Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	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
CAMSAP1L1	23271	broad.mit.edu	37	1	200825160	200825160	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:200825160T>G	ENST00000236925.4	+	16	4001	c.3952T>G	c.(3952-3954)Tta>Gta	p.L1318V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1291V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L1307V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1318					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGAAGGCTTCTTATCTCCAAG	0.388																																						uc001gvl.3																			0											c.(3952-3954)Tta>Gta		Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.							138	158	151					1																	200825160		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200825160T>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3952T>G	1.37:g.200825160T>G	ENSP00000236925:p.Leu1318Val		Somatic				CAMSAP2_uc001gvk.3_Missense_Mutation_p.L1307V|CAMSAP2_uc001gvm.3_Missense_Mutation_p.L1291V	p.L1318V	NM_203459	NP_982284	WXS	Illumina GAIIx	Phase_I	Q08AD1	CAMP2_HUMAN			15	4222	+			1318					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3952T>G		.	.	.	.	.	.	.	.	.	.	T	13.27	2.186082	0.38609	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14766	2.5;2.48;2.49	5.36	0.414	0.16406	.	0.066702	0.64402	D	0.000015	T	0.11793	0.0287	L	0.54323	1.7	0.52501	D	0.999954	B;B;B	0.22541	0.014;0.042;0.071	B;B;B	0.28139	0.037;0.04;0.086	T	0.12344	-1.0551	10	0.29301	T	0.29	-14.1698	5.4833	0.16735	0.1257:0.3504:0.0:0.5239	.	1291;1318;1307	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	1307;1291;1318	ENSP00000351684:L1307V;ENSP00000416800:L1291V;ENSP00000236925:L1318V	ENSP00000236925:L1318V	L	+	1	2	CAMSAP1L1	199091783	0.915000	0.31059	0.833000	0.33012	0.964000	0.63967	0.099000	0.15210	-0.109000	0.12044	0.533000	0.62120	TTA		0.388	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		6	288	0	0	0	1	0	6	288					G	200825160	T	G	200825160	3	3	1	1	0	0	0	0	1	0	0	0	2612	1606	56	5	3977	5	CAMSAP1L1	1	200825160	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		200825160	48425461	1	1											
ZP4	57829	broad.mit.edu	37	1	238045749	238045749	+	Silent	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr1:238045749C>T	ENST00000366570.4	-	12	1754	c.1596G>A	c.(1594-1596)aaG>aaA	p.K532K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	532					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGGGCAACTCTTCTGTTTCT	0.443																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1594-1596)aaG>aaA		Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.							144	146	146					1																	238045749		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238045749C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1596G>A	1.37:g.238045749C>T			Somatic				LOC100130331_uc010pyc.2_Intron	p.K532K	NM_021186	NP_067009	WXS	Illumina GAIIx	Phase_I	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		11	1883	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	532					B2RAE1	Silent	SNP	ENST00000366570.4	37	c.1596G>A	CCDS1615.1																																																																																				0.443	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			5	209	0	0	0	1	0	5	209					T	238045749	C	T	238045749	2	4	1	1	0	0	0	0	0	0	0	1	18215	912	32	2		2	ZP4	1	238045749	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	37220589	238045749	11204872	2	2											
MRPS5	64969	broad.mit.edu	37	2	95773945	95773945	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:95773945G>A	ENST00000272418.2	-	5	820	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	204					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTCAGGGGGGCCAAGACTGA	0.488																																						uc002sub.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(610-612)ggC>ggT		Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.							147	123	131					2																	95773945		2203	4300	6503	SO:0001819	synonymous_variant	64969				translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome	g.chr2:95773945G>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.612C>T	2.37:g.95773945G>A			Somatic				MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Silent_p.G204G	p.G204G	NM_031902	NP_114108	WXS	Illumina GAIIx	Phase_I	P82675	RT05_HUMAN			4	830	-			204					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	c.612C>T	CCDS2010.1																																																																																				0.488	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		4	130	0	0	0	1	0	4	130					A	95773945	G	A	95773945	2	1	1	1	0	0	0	0	0	0	0	1	9846	1190	42	2		2	MRPS5	2	95773945	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		95773945	147425428	3	3											
SCN1A	6323	broad.mit.edu	37	2	166894497	166894497	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:166894497A>G	ENST00000303395.4	-	15	2734	c.2735T>C	c.(2734-2736)tTt>tCt	p.F912S	SCN1A_ENST00000423058.2_Missense_Mutation_p.F912S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F884S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F901S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	912					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTTTTACCAAAGAGCTGCAT	0.478																																						uc002udo.4																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2734-2736)tTt>tCt		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						155	141	146					2																	166894497		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894497A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2735T>C	2.37:g.166894497A>G	ENSP00000303540:p.Phe912Ser		Somatic				SCN1A_uc010fpk.3_Missense_Mutation_p.F884S|SCN1A_uc021vsb.1_Missense_Mutation_p.F901S	p.F912S	NM_001202435	NP_001189364	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			16	2962	-			912					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2735T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618173	0.87359	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99667	0.9876	H	0.99675	4.695	0.80722	D	1	B;D;D	0.89917	0.194;0.999;1.0	B;D;D	0.87578	0.132;0.997;0.998	D	0.97078	0.9782	10	0.87932	D	0	.	15.1254	0.72478	1.0:0.0:0.0:0.0	.	901;884;912	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	912;912;901;884	ENSP00000407030:F912S;ENSP00000303540:F912S;ENSP00000364554:F901S;ENSP00000386312:F884S	ENSP00000303540:F912S	F	-	2	0	SCN1A	166602743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.226000	0.95229	2.042000	0.60477	0.482000	0.46254	TTT		0.478	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		35	117	0	0	0	1	0	35	117					G	166894497	A	G	166894497	3	3	1	1	0	0	0	0	1	0	0	0	13914	14	1	3	3342	3	SCN1A	2	166894497	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	71120552	166894497	76304876	4	4											
SSFA2	6744	broad.mit.edu	37	2	182783539	182783539	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr2:182783539A>G	ENST00000431877.2	+	13	3102	c.2923A>G	c.(2923-2925)Atg>Gtg	p.M975V	SSFA2_ENST00000409136.1_Missense_Mutation_p.M484V|SSFA2_ENST00000320370.7_Missense_Mutation_p.M975V|SSFA2_ENST00000428267.2_Missense_Mutation_p.M822V|SSFA2_ENST00000409001.1_Missense_Mutation_p.M975V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	975						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)			TAGAACACAAATGATGGATTT	0.373																																						uc002uoi.3																			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.(2923-2925)Atg>Gtg		Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.							70	71	71					2																	182783539		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783539A>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2923A>G	2.37:g.182783539A>G	ENSP00000388731:p.Met975Val		Somatic				SSFA2_uc002uoh.3_Missense_Mutation_p.M975V|SSFA2_uc002uoj.3_Missense_Mutation_p.M975V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.M822V|SSFA2_uc002uol.3_Missense_Mutation_p.M822V|SSFA2_uc002uom.3_Missense_Mutation_p.M443V	p.M975V	NM_001130445	NP_001123917	WXS	Illumina GAIIx	Phase_I	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		12	3245	+			975					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2923A>G	CCDS46467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.208844|4.208844	0.79240|0.79240	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	T;T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38;1.38|.	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75968|0.75968	0.3922|0.3922	M|M	0.74881|0.74881	2.28|2.28	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D;D|.	0.71674|.	0.998;0.99;0.998;0.998;0.998|.	D;D;D;D;D|.	0.76071|.	0.987;0.979;0.987;0.987;0.987|.	T|T	0.75844|0.75844	-0.3174|-0.3174	10|5	0.56958|.	D|.	0.05|.	-19.6247|-19.6247	16.7021|16.7021	0.85357|0.85357	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	822;484;975;975;975|.	E7END2;E7EUL7;E9PHV5;P28290;P28290-3|.	.;.;.;SSFA2_HUMAN;.|.	V|S	975;975;975;822;484|13	ENSP00000388731:M975V;ENSP00000314669:M975V;ENSP00000387319:M975V;ENSP00000409867:M822V;ENSP00000386916:M484V|.	ENSP00000314669:M975V|.	M|N	+|+	1|2	0|0	SSFA2|SSFA2	182491784|182491784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.810000|7.810000	0.86072|0.86072	2.343000|2.343000	0.79666|0.79666	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.373	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		3	99	0	0	0	1	0	3	99					G	182783539	A	G	182783539	3	3	1	1	0	0	0	0	1	0	0	0	15182	101	4	3	2973	3	SSFA2	2	182783539	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	15889042	182783539	60415834	5	5											
NEK10	152110	broad.mit.edu	37	3	27332763	27332763	+	Missense_Mutation	SNP	C	C	G	rs547879901		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:27332763C>G	ENST00000429845.2	-	19	1957	c.1595G>C	c.(1594-1596)tGt>tCt	p.C532S	NEK10_ENST00000357467.2_5'UTR|NEK10_ENST00000341435.5_Missense_Mutation_p.C532S			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGTAAACACAGCCAAAAGC	0.383																																						uc003cdt.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1594-1596)tGt>tCt		Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.							128	118	121					3																	27332763		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27332763C>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1595G>C	3.37:g.27332763C>G	ENSP00000395849:p.Cys532Ser		Somatic				NEK10_uc003cds.1_5'UTR	p.C532S	NM_199347	NP_955379	WXS	Illumina GAIIx	Phase_I	Q6ZWH5	NEK10_HUMAN			18	1869	-			532			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1595G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.14|11.14	1.551507|1.551507	0.27739|0.27739	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000341435;ENST00000396636|ENST00000424275	T|.	0.63096|.	-0.02|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.101452|.	0.64402|.	N|.	0.000009|.	T|T	0.32852|0.32852	0.0843|0.0843	N|N	0.01576|0.01576	-0.805|-0.805	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.16289|.	0.015|.	T|T	0.35375|0.35375	-0.9791|-0.9791	10|5	0.02654|.	T|.	1|.	.|.	19.7321|19.7321	0.96186|0.96186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	532|.	Q6ZWH5|.	NEK10_HUMAN|.	S|L	532|65	ENSP00000343847:C532S|.	ENSP00000343847:C532S|.	C|V	-|-	2|1	0|0	NEK10|NEK10	27307767|27307767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.264000|4.264000	0.58859|0.58859	2.652000|2.652000	0.90054|0.90054	0.650000|0.650000	0.86243|0.86243	TGT|GTG		0.383	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		8	45	0	0	0	1	0	8	45					G	27332763	C	G	27332763	3	3	1	1	0	0	0	0	1	0	0	0	10322	478	17	4	571	4	NEK10	3	27332763	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		27332763	170689667	6	6											
HTR3C	170572	broad.mit.edu	37	3	183777748	183777748	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:183777748A>T	ENST00000318351.1	+	8	1092	c.1058A>T	c.(1057-1059)cAc>cTc	p.H353L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	353					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTGCTGCTCCACTGCACCAGC	0.642																																						uc003fmk.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(1057-1059)cAc>cTc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.							67	62	64					3																	183777748		2203	4295	6498	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777748A>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1058A>T	3.37:g.183777748A>T	ENSP00000322617:p.His353Leu		Somatic					p.H353L	NM_130770	NP_570126	WXS	Illumina GAIIx	Phase_I	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1092	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		353					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.1058A>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	A	9.081	0.999307	0.19121	.	.	ENSG00000178084	ENST00000318351	D	0.85556	-2.0	3.68	-1.93	0.07594	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.318280	0.01627	N	0.023341	D	0.84960	0.5588	M	0.66939	2.045	0.09310	N	1	B	0.23316	0.083	B	0.39339	0.297	T	0.64719	-0.6341	10	0.51188	T	0.08	.	0.5472	0.00656	0.4367:0.1769:0.2146:0.1718	.	353	Q8WXA8	5HT3C_HUMAN	L	353	ENSP00000322617:H353L	ENSP00000322617:H353L	H	+	2	0	HTR3C	185260442	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.662000	0.05305	-0.221000	0.09973	-1.400000	0.01143	CAC		0.642	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		23	50	0	0	0	1	0	23	50					T	183777748	A	T	183777748	3	4	1	1	0	0	0	0	1	0	0	0	7446	159	6	5	1088	5	HTR3C	3	183777748	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	156444985	183777748	14244682	7	7											
EIF4G1	1981	broad.mit.edu	37	3	184040719	184040719	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr3:184040719A>G	ENST00000346169.2	+	13	2177	c.1906A>G	c.(1906-1908)Atc>Gtc	p.I636V	EIF4G1_ENST00000435046.2_Missense_Mutation_p.I440V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I440V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I636V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I596V|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I549V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I643V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I596V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I472V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I472V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.I636V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I549V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	636	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|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)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGCCACATATCAGTGACGT	0.507																																						uc010hxx.3																			0		p.K643N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1927-1929)Atc>Gtc		Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 6, mRNA.							197	186	190					3																	184040719		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184040719A>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1906A>G	3.37:g.184040719A>G	ENSP00000316879:p.Ile636Val		Somatic				EIF4G1_uc003fno.2_Missense_Mutation_p.I577V|EIF4G1_uc010hxw.2_Missense_Mutation_p.I472V|EIF4G1_uc003fnt.3_Missense_Mutation_p.I347V|EIF4G1_uc010hxy.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnp.3_Missense_Mutation_p.I636V|EIF4G1_uc003fnq.3_Missense_Mutation_p.I549V|EIF4G1_uc003fnr.3_Missense_Mutation_p.I472V|EIF4G1_uc003fns.3_Missense_Mutation_p.I596V|EIF4G1_uc003fnv.4_Missense_Mutation_p.I636V|EIF4G1_uc003fnw.3_Missense_Mutation_p.I643V|EIF4G1_uc003fnx.3_Missense_Mutation_p.I440V|SNORD66_uc003fnz.3_5'Flank	p.I643V	NM_001194946	NP_937885	WXS	Illumina GAIIx	Phase_I	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	2198	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		636			MIF4G.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1927A>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916999	0.73098	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.65975	2.015	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.81914	0.992;0.995;0.995;0.995	T	0.59700	-0.7405	10	0.13853	T	0.58	-12.5475	15.5933	0.76558	1.0:0.0:0.0:0.0	.	643;636;636;643	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	636;596;549;636;643;643;577;472;643;549;636;636;643;596;472;472;440;440	ENSP00000316879:I636V;ENSP00000391935:I596V;ENSP00000376320:I549V;ENSP00000391412:I636V;ENSP00000413159:I643V;ENSP00000371767:I643V;ENSP00000403269:I577V;ENSP00000317600:I472V;ENSP00000338020:I643V;ENSP00000407682:I549V;ENSP00000343450:I636V;ENSP00000323737:I636V;ENSP00000416255:I643V;ENSP00000395974:I596V;ENSP00000398145:I472V;ENSP00000399858:I472V;ENSP00000411826:I440V;ENSP00000404754:I440V	ENSP00000323737:I636V	I	+	1	0	EIF4G1	185523413	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.761000	0.91691	2.270000	0.75569	0.460000	0.39030	ATC		0.507	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		6	285	0	0	0	1	0	6	285					G	184040719	A	G	184040719	3	3	1	1	0	0	0	0	1	0	0	0	5036	449	16	3	1948	3	EIF4G1	3	184040719	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	262971	184040719	13981711	8	8											
FRYL	285527	broad.mit.edu	37	4	48591854	48591854	+	Silent	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr4:48591854A>G	ENST00000503238.1	-	15	1547	c.1548T>C	c.(1546-1548)gaT>gaC	p.D516D	FRYL_ENST00000537810.1_Silent_p.D516D|FRYL_ENST00000358350.4_Silent_p.D516D|FRYL_ENST00000506685.1_Silent_p.D222D|FRYL_ENST00000507711.1_Silent_p.D516D|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGAGGATGCTATCTAATGCTT	0.353																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1546-1548)gaT>gaC		Homo sapiens FRY-like (FRYL), mRNA.							186	171	176					4																	48591854		1861	4102	5963	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48591854A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1548T>C	4.37:g.48591854A>G			Somatic				FRYL_uc003gyk.3_Silent_p.D516D	p.D516D	NM_015030	NP_055845	WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			17	2153	-			516					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.1548T>C	CCDS43227.1																																																																																				0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	249	0	0	0	1	0	4	249					G	48591854	A	G	48591854	2	3	1	1	0	0	0	0	0	0	0	1	6064	446	16	3		3	FRYL	4	48591854	Silent	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		48591854	142562422	9	9											
DNAH5	1767	broad.mit.edu	37	5	13751210	13751210	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr5:13751210T>C	ENST00000265104.4	-	65	11292	c.11188A>G	c.(11188-11190)Agg>Ggg	p.R3730G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3730	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAATGACCCTCCCCAGTAAC	0.443									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11188-11190)Agg>Ggg		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							137	128	131					5																	13751210		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13751210T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11188A>G	5.37:g.13751210T>C	ENSP00000265104:p.Arg3730Gly		Somatic				DNAH5_uc003jfc.2_5'UTR	p.R3730G	NM_001369	NP_001360	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			64	11230	-	Lung NSC(4;0.00476)		3730			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11188A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489428	0.84962	.	.	ENSG00000039139	ENST00000265104	T	0.21361	2.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.89785	3.06	0.80722	D	1	P	0.39352	0.669	P	0.48089	0.566	T	0.53315	-0.8456	10	0.59425	D	0.04	.	15.8087	0.78538	0.0:0.0:0.0:1.0	.	3730	Q8TE73	DYH5_HUMAN	G	3730	ENSP00000265104:R3730G	ENSP00000265104:R3730G	R	-	1	2	DNAH5	13804210	0.996000	0.38824	1.000000	0.80357	0.926000	0.56050	2.452000	0.44961	2.191000	0.70037	0.528000	0.53228	AGG		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		32	70	0	0	0	1	0	32	70					C	13751210	T	C	13751210	3	2	1	1	0	0	0	0	1	0	0	0	4604	1550	54	3	2746	3	DNAH5	5	13751210	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		13751210	167164050	10	10											
ZFAND3	60685	broad.mit.edu	37	6	38029485	38029485	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:38029485A>G	ENST00000287218.4	+	3	676	c.229A>G	c.(229-231)Act>Gct	p.T77A	ZFAND3_ENST00000373391.2_Missense_Mutation_p.T77A	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	77							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AACCACGCCAACTCTTAGTCC	0.493																																						uc003onx.3																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						c.(229-231)Act>Gct		Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.							97	84	88					6																	38029485		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38029485A>G	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"Zinc fingers, AN1-type domain containing"	18019	protein-coding gene	gene with protein product		607455	"testis expressed sequence 27"	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.229A>G	6.37:g.38029485A>G	ENSP00000287218:p.Thr77Ala		Somatic					p.T77A	NM_021943	NP_068762	WXS	Illumina GAIIx	Phase_I	Q9H8U3	ZFAN3_HUMAN			2	644	+			77					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.229A>G	CCDS4836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.24|12.24	1.877352|1.877352	0.33162|0.33162	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000373389|ENST00000287218;ENST00000373391;ENST00000474522	.|T	.|0.41758	.|0.99	5.43|5.43	4.27|4.27	0.50696|0.50696	.|.	.|0.370552	.|0.30252	.|N	.|0.010043	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.08118|0.08118	0|0	0.38547|0.38547	D|D	0.949361|0.949361	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.18524|0.18524	-1.0334|-1.0334	5|10	.|0.09084	.|T	.|0.74	-0.7091|-0.7091	9.3104|9.3104	0.37900|0.37900	0.8419:0.0:0.1581:0.0|0.8419:0.0:0.1581:0.0	.|.	.|77	.|Q9H8U3	.|ZFAN3_HUMAN	S|A	53|77;77;108	.|ENSP00000420240:T108A	.|ENSP00000287218:T77A	N|T	+|+	2|1	0|0	ZFAND3|ZFAND3	38137463|38137463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.317000|2.317000	0.43770|0.43770	1.000000|1.000000	0.39049|0.39049	0.383000|0.383000	0.25322|0.25322	AAC|ACT		0.493	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		15	49	0	0	0	1	0	15	49					G	38029485	A	G	38029485	3	3	1	1	0	0	0	0	1	0	0	0	17626	43	2	3	239	3	ZFAND3	6	38029485	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		38029485	133085582	11	11											
PTPRK	5796	broad.mit.edu	37	6	128540102	128540102	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr6:128540102G>A	ENST00000368215.3	-	6	832	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PTPRK_ENST00000368227.3_Missense_Mutation_p.S278F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S278F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S278F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.S278F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S278F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S278F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	278	Ig-like C2-type.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGACACACCGGAACCTCGTTC	0.398																																						uc011ebu.2																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(832-834)tCc>tTc		Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 1, mRNA.							160	142	148					6																	128540102		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128540102G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.833C>T	6.37:g.128540102G>A	ENSP00000357198:p.Ser278Phe		Somatic				PTPRK_uc010kfc.3_Missense_Mutation_p.S278F|PTPRK_uc003qbj.3_Missense_Mutation_p.S278F|PTPRK_uc003qbk.3_Missense_Mutation_p.S278F|PTPRK_uc003qbl.1_Missense_Mutation_p.S148F|PTPRK_uc011ebv.1_Missense_Mutation_p.S278F	p.S278F	NM_001135648	NP_001129120	WXS	Illumina GAIIx	Phase_I	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	5	1200	-			278			Ig-like C2-type.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.833C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.584439|4.584439	0.86748|0.86748	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000490332|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.|T;T;T;T;T;T;T	.|0.16073	.|2.37;2.37;2.37;2.37;2.37;2.37;2.37	4.78|4.78	4.78|4.78	0.61160|0.61160	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.48642|0.48642	1.525|1.525	0.50313|0.50313	D|D	0.999868|0.999868	.|P;D;D;D;P;P	.|0.69078	.|0.878;0.997;0.997;0.997;0.57;0.514	.|P;D;D;D;P;B	.|0.68943	.|0.73;0.961;0.935;0.921;0.567;0.431	T|T	0.03423|0.03423	-1.1038|-1.1038	5|10	.|0.12103	.|T	.|0.63	.|.	17.8323|17.8323	0.88686|0.88686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|278;278;278;135;278;278	.|B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.|.;.;.;.;PTPRK_HUMAN;.	S|F	95|278;278;278;278;278;278;278;135	.|ENSP00000357209:S278F;ENSP00000357210:S278F;ENSP00000432973:S278F;ENSP00000357196:S278F;ENSP00000357193:S278F;ENSP00000357198:S278F;ENSP00000357190:S278F	.|ENSP00000357190:S278F	P|S	-|-	1|2	0|0	PTPRK|PTPRK	128581795|128581795	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	9.457000|9.457000	0.97630|0.97630	2.189000|2.189000	0.69895|0.69895	0.455000|0.455000	0.32223|0.32223	CCG|TCC		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			41	158	0	0	0	1	0	41	158					A	128540102	G	A	128540102	3	1	1	1	0	0	0	0	1	0	0	0	12805	1174	41	2	3611	2	PTPRK	6	128540102	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	90510617	128540102	42574965	12	12											
C7orf10	79783	broad.mit.edu	37	7	40899976	40899976	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:40899976G>A	ENST00000335693.4	+	14	1259	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Silent_p.G438G|C7orf10_ENST00000401647.2_Silent_p.G364G	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		412					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CGCTGCTCGGGCAGCACACAA	0.572																																						uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1312-1314)ggG>ggA		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							99	110	106					7																	40899976		2107	4229	6336	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40899976G>A																												ENST00000335693.4:c.1236G>A	7.37:g.40899976G>A			Somatic				C7orf10_uc003thn.2_Silent_p.G412G|C7orf10_uc003tho.2_Silent_p.G364G|C7orf10_uc003thp.2_Non-coding_Transcript	p.G438G	NM_001193311	NP_001180240	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			14	1338	+			412					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.1314G>A	CCDS55105.1																																																																																				0.572	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			11	285	0	0	0	1	0	11	285					A	40899976	G	A	40899976	2	1	1	1	0	0	0	0	0	0	0	1	2376	1190	42	2		2	C7orf10	7	40899976	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		40899976	118238687	13	13											
HUS1	3364	broad.mit.edu	37	7	48016402	48016402	+	Silent	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr7:48016402G>T	ENST00000258774.5	-	4	413	c.390C>A	c.(388-390)acC>acA	p.T130T	HUS1_ENST00000432325.1_Silent_p.T109T	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	130					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGATGTCATGGGTCACAATGC	0.408								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	uc003tod.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(388-390)acC>acA	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.							181	167	172					7																	48016402		2203	4300	6503	SO:0001819	synonymous_variant	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48016402G>T	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.390C>A	7.37:g.48016402G>T			Somatic					p.T130T	NM_004507	NP_004498	WXS	Illumina GAIIx	Phase_I	O60921	HUS1_HUMAN			3	496	-		Breast(660;0.00139)	130					B4DFI9	Silent	SNP	ENST00000258774.5	37	c.390C>A	CCDS34635.1																																																																																				0.408	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		7	247	0	0	0	1	0	7	247					T	48016402	G	T	48016402	2	4	1	1	0	0	0	0	0	0	0	1	7459	1219	43	4		4	HUS1	7	48016402	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	7116426	48016402	111122261	14	14											
CNGB3	54714	broad.mit.edu	37	8	87683262	87683262	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr8:87683262G>C	ENST00000320005.5	-	4	450	c.403C>G	c.(403-405)Ctg>Gtg	p.L135V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	135					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTTTCACCAGGTTGTGTAGC	0.473																																						uc003ydx.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(403-405)Ctg>Gtg		Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.							243	250	248					8																	87683262		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683262G>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.403C>G	8.37:g.87683262G>C	ENSP00000316605:p.Leu135Val		Somatic				CNGB3_uc010maj.3_5'UTR	p.L135V	NM_019098	NP_061971	WXS	Illumina GAIIx	Phase_I	Q9NQW8	CNGB3_HUMAN			3	451	-			135					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.403C>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202908	0.58234	.	.	ENSG00000170289	ENST00000320005	T	0.61510	0.1	5.68	0.286	0.15710	.	0.182929	0.35179	N	0.003395	T	0.59155	0.2173	M	0.67397	2.05	0.20489	N	0.999892	D	0.67145	0.996	P	0.56563	0.801	T	0.52442	-0.8575	10	0.62326	D	0.03	.	1.9517	0.03368	0.2006:0.0989:0.4153:0.2851	.	135	Q9NQW8	CNGB3_HUMAN	V	135	ENSP00000316605:L135V	ENSP00000316605:L135V	L	-	1	2	CNGB3	87752378	0.022000	0.18835	0.080000	0.20451	0.980000	0.70556	-0.041000	0.12084	0.001000	0.14605	0.591000	0.81541	CTG		0.473	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		12	499	0	0	0	1	0	12	499					C	87683262	G	C	87683262	3	2	1	1	0	0	0	0	1	0	0	0	3601	991	35	4	2086	4	CNGB3	8	87683262	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		87683262	58680760	15	15											
FGD3	89846	broad.mit.edu	37	9	95797678	95797678	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr9:95797678C>T	ENST00000375482.3	+	18	2481	c.1985C>T	c.(1984-1986)cCt>cTt	p.P662L	FGD3_ENST00000416701.2_Missense_Mutation_p.P661L|FGD3_ENST00000337352.6_Missense_Mutation_p.P662L|FGD3_ENST00000538555.1_Missense_Mutation_p.P265L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	662	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GTGCCGGACCCTGAGGAGAGG	0.672																																						uc004asw.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1984-1986)cCt>cTt		Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 1, mRNA.							27	35	33					9																	95797678		2135	4242	6377	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr9:95797678C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1985C>T	9.37:g.95797678C>T	ENSP00000364631:p.Pro662Leu		Somatic				FGD3_uc004asx.2_Missense_Mutation_p.P661L|FGD3_uc004asz.2_Missense_Mutation_p.P662L|FGD3_uc011luc.1_Missense_Mutation_p.P265L	p.P662L	NM_001083536	NP_149077	WXS	Illumina GAIIx	Phase_I	Q5JSP0	FGD3_HUMAN			17	2613	+			662			PH 2.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1985C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	c	10.54	1.379758	0.24944	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.73152	-0.66;-0.66;-0.66;-0.72	4.51	2.42	0.29668	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.37623	N	0.002002	T	0.73009	0.3532	M	0.70275	2.135	0.09310	N	0.999999	D;B	0.53745	0.962;0.053	P;B	0.54965	0.765;0.046	T	0.61232	-0.7104	10	0.27785	T	0.31	.	5.6654	0.17693	0.0:0.6812:0.1932:0.1256	.	661;662	F8W7P2;Q5JSP0	.;FGD3_HUMAN	L	662;661;662;265	ENSP00000364631:P662L;ENSP00000413833:P661L;ENSP00000336914:P662L;ENSP00000442560:P265L	ENSP00000336914:P662L	P	+	2	0	FGD3	94837499	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.419000	0.21247	0.464000	0.27142	0.556000	0.70494	CCT		0.672	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		6	13	0	0	0	1	0	6	13					T	95797678	C	T	95797678	3	4	1	1	0	0	0	0	1	0	0	0	5834	681	24	2	2047	2	FGD3	9	95797678	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		95797678	45415753	16	16											
FRMPD2	143162	broad.mit.edu	37	10	49409405	49409405	+	Missense_Mutation	SNP	C	C	T	rs540210045		TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:49409405C>T	ENST00000374201.3	-	15	2122	c.1820G>A	c.(1819-1821)aGc>aAc	p.S607N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.S582N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S575N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	607	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGTGACACTGCTTGTGATGGT	0.453													C|||	1	0.000199681	0	0	5008	,	,		18843	0.001		0	False		,,,				2504	0					uc001jgi.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1819-1821)aGc>aAc		Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.							202	166	178					10																	49409405		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49409405C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1820G>A	10.37:g.49409405C>T	ENSP00000363317:p.Ser607Asn		Somatic				FRMPD2_uc001jgh.3_Missense_Mutation_p.S575N|FRMPD2_uc001jgj.3_Missense_Mutation_p.S576N	p.S607N	NM_001018071	NP_001018081	WXS	Illumina GAIIx	Phase_I	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	14	2151	-			607			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1820G>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905214	0.52333	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.82081	-1.57;-1.57;-1.57	5.16	5.16	0.70880	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.86928	0.6051	L	0.41236	1.265	0.39178	D	0.96272	D;P;D	0.89917	1.0;0.771;1.0	D;B;D	0.85130	0.997;0.348;0.997	D	0.83824	0.0248	9	0.18710	T	0.47	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	582;607;575	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	N	607;582;575	ENSP00000363317:S607N;ENSP00000307079:S582N;ENSP00000384339:S575N	ENSP00000307079:S582N	S	-	2	0	FRMPD2	49079411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.146000	0.64845	2.585000	0.87301	0.655000	0.94253	AGC		0.453	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		52	170	0	0	0	1	0	52	170					T	49409405	C	T	49409405	3	4	1	1	0	0	0	0	1	0	0	0	6058	797	28	2	2169	2	FRMPD2	10	49409405	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		49409405	86125342	17	17											
C10orf76	79591	broad.mit.edu	37	10	103735059	103735059	+	Splice_Site	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:103735059T>C	ENST00000370033.4	-	20	1526		c.e20-2			NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATGCAGCGTCTGTAACAGGGA	0.493																																						uc009xwy.1																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.e20-1		Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.							76	78	78					10																	103735059		1915	4121	6036	SO:0001630	splice_region_variant	79591					integral to membrane		g.chr10:103735059T>C	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1407-2A>G	10.37:g.103735059T>C			Somatic				C10orf76_uc009xwx.1_Splice_Site	p.I469_splice	NM_024541	NP_078817	WXS	Illumina GAIIx	Phase_I	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	20	1509	-		Colorectal(252;0.123)	469					Q2TB87|Q9H8Z9	Splice_Site	SNP	ENST00000370033.4	37	c.1407_splice	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604159	0.87157	.	.	ENSG00000120029	ENST00000370033;ENST00000431271	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1214	0.65189	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf76	103725049	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	7.276000	0.78559	1.994000	0.58287	0.402000	0.26972	.		0.493	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	Intron	19	49	0	0	0	1	0	19	49					C	103735059	T	C	103735059	5	2	1	1	0	0	0	0	0	0	1	0	1616	1594	55	3	692	3	C10orf76	10	103735059	Splice_Site	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08	54325654	103735059	31799688	18	18											
PPAPDC1A	196051	broad.mit.edu	37	10	122273473	122273473	+	Silent	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr10:122273473C>T	ENST00000398250.1	+	3	568	c.216C>T	c.(214-216)atC>atT	p.I72I	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Silent_p.I72I|PPAPDC1A_ENST00000439221.1_Silent_p.I72I|PPAPDC1A_ENST00000369073.3_Silent_p.I62I	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	72					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TGAAAATTATCCGGCGAACAG	0.413																																						uc001lev.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(214-216)atC>atT		Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.							188	169	175					10																	122273473		1834	4088	5922	SO:0001819	synonymous_variant	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122273473C>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.216C>T	10.37:g.122273473C>T			Somatic				PPAPDC1A_uc010qtd.2_Silent_p.I72I|PPAPDC1A_uc009xzl.1_Silent_p.I72I|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_5'UTR	p.I72I	NM_001030059	NP_001025230	WXS	Illumina GAIIx	Phase_I	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	2	568	+		Lung NSC(174;0.1)|all_lung(145;0.132)	72					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Silent	SNP	ENST00000398250.1	37	c.216C>T	CCDS41573.1																																																																																				0.413	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		4	184	0	0	0	1	0	4	184					T	122273473	C	T	122273473	2	4	1	1	0	0	0	0	0	0	0	1	12293	845	30	2		2	PPAPDC1A	10	122273473	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	18538414	122273473	13261274	19	19											
OR5B2	390190	broad.mit.edu	37	11	58190019	58190019	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:58190019C>T	ENST00000302581.2	-	1	767	c.716G>A	c.(715-717)tGt>tAt	p.C239Y		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGAGAGGCACAGGTGGACAA	0.438																																						uc010rkg.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(715-717)tGt>tAt		Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.							123	114	117					11																	58190019		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190019C>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.716G>A	11.37:g.58190019C>T	ENSP00000303076:p.Cys239Tyr		Somatic					p.C239Y	NM_001005566	NP_001005566	WXS	Illumina GAIIx	Phase_I	Q96R09	OR5B2_HUMAN			0	768	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	239					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.716G>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858260	0.51376	.	.	ENSG00000172365	ENST00000302581	T	0.00369	7.74	3.73	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	U	0.001601	T	0.01940	0.0061	H	0.98295	4.195	0.52099	D	0.999945	D	0.89917	1.0	D	0.75484	0.986	T	0.10428	-1.0630	10	0.87932	D	0	-10.7883	14.5682	0.68194	0.0:1.0:0.0:0.0	.	239	Q96R09	OR5B2_HUMAN	Y	239	ENSP00000303076:C239Y	ENSP00000303076:C239Y	C	-	2	0	OR5B2	57946595	1.000000	0.71417	0.993000	0.49108	0.303000	0.27691	5.754000	0.68743	2.098000	0.63641	0.585000	0.79938	TGT		0.438	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		27	57	0	0	0	1	0	27	57					T	58190019	C	T	58190019	3	4	1	1	0	0	0	0	1	0	0	0	11150	478	17	2	217	2	OR5B2	11	58190019	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		58190019	76816497	20	20											
C11orf9	745	broad.mit.edu	37	11	61551039	61551039	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:61551039C>T	ENST00000278836.5	+	23	3182	c.3086C>T	c.(3085-3087)aCc>aTc	p.T1029I	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Missense_Mutation_p.T415I|MYRF_ENST00000265460.5_Missense_Mutation_p.T989I	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1029					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATGTCCATCACCTCCCAGTAC	0.617																																						uc001nsc.1																			0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						c.(3085-3087)aCc>aTc		Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.							157	140	146					11																	61551039		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61551039C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3086C>T	11.37:g.61551039C>T	ENSP00000278836:p.Thr1029Ile		Somatic				C11orf9_uc001nse.1_Missense_Mutation_p.T989I|C11orf9_uc010rll.1_Missense_Mutation_p.T415I|C11orf9_uc021qkh.1_5'Flank	p.T1029I	NM_001127392	NP_001120864	WXS	Illumina GAIIx	Phase_I	Q9Y2G1	MRF_HUMAN			22	3182	+			1029					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3086C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942936	0.73672	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.49139	0.79;0.79;0.79	4.36	4.36	0.52297	.	0.327071	0.31897	N	0.006896	T	0.57770	0.2076	L	0.47716	1.5	0.80722	D	1	D;P;D	0.69078	0.997;0.744;0.973	D;B;P	0.65010	0.931;0.341;0.756	T	0.56998	-0.7886	10	0.45353	T	0.12	-26.4873	12.9201	0.58226	0.2026:0.7974:0.0:0.0	.	415;989;1029	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	I	1029;989;415	ENSP00000278836:T1029I;ENSP00000265460:T989I;ENSP00000374253:T415I	ENSP00000265460:T989I	T	+	2	0	C11orf9	61307615	0.947000	0.32204	0.991000	0.47740	0.996000	0.88848	2.018000	0.40991	2.350000	0.79820	0.655000	0.94253	ACC		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		5	308	0	0	0	1	0	5	308					T	61551039	C	T	61551039	3	4	1	1	0	0	0	0	1	0	0	0	1671	507	18	2	3202	2	C11orf9	11	61551039	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	3361020	61551039	73455477	21	21											
OR2AT4	341152	broad.mit.edu	37	11	74800585	74800585	+	Silent	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:74800585G>T	ENST00000305159.3	-	1	214	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTGGAGGCTGGGCTCTGCCA	0.502																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(172-174)ccC>ccA		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							146	124	132					11																	74800585		2200	4293	6493	SO:0001819	synonymous_variant	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800585G>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.174C>A	11.37:g.74800585G>T			Somatic					p.P58P	NM_001005285	NP_001005285	WXS	Illumina GAIIx	Phase_I	A6NND4	O2AT4_HUMAN			0	174	-			58					B9EGZ8	Silent	SNP	ENST00000305159.3	37	c.174C>A	CCDS31639.1																																																																																				0.502	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		5	87	0	0	0	1	0	5	87					T	74800585	G	T	74800585	2	4	1	1	0	0	0	0	0	0	0	1	10987	1335	47	4		4	OR2AT4	11	74800585	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	13249546	74800585	60205931	22	22											
SORL1	6653	broad.mit.edu	37	11	121424735	121424735	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:121424735G>A	ENST00000260197.7	+	17	2485	c.2356G>A	c.(2356-2358)Ggg>Agg	p.G786R		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	786					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)		GCCTCTCACCGGGCTACGGGC	0.562																																						uc001pxx.3																			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.(2356-2358)Ggg>Agg		Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.							152	143	146					11																	121424735		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.chr11:121424735G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2356G>A	11.37:g.121424735G>A	ENSP00000260197:p.Gly786Arg		Somatic					p.G786R	NM_003105	NP_003096	WXS	Illumina GAIIx	Phase_I	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	16	2485	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	786					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2356G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165764	0.78339	.	.	ENSG00000137642	ENST00000260197	D	0.92149	-2.98	4.96	4.96	0.65561	Six-bladed beta-propeller, TolB-like (1);	0.282723	0.38381	N	0.001711	D	0.95478	0.8531	M	0.90145	3.09	0.80722	D	1	D	0.65815	0.995	P	0.51895	0.683	D	0.96353	0.9260	10	0.72032	D	0.01	.	18.396	0.90499	0.0:0.0:1.0:0.0	.	786	Q92673	SORL_HUMAN	R	786	ENSP00000260197:G786R	ENSP00000260197:G786R	G	+	1	0	SORL1	120929945	1.000000	0.71417	0.559000	0.28332	0.375000	0.29983	9.299000	0.96137	2.564000	0.86499	0.561000	0.74099	GGG		0.562	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		4	234	0	0	0	1	0	4	234					A	121424735	G	A	121424735	3	1	1	1	0	0	0	0	1	0	0	0	14934	1116	39	1	2422	1	SORL1	11	121424735	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	46624150	121424735	13581781	23	23											
THYN1	29087	broad.mit.edu	37	11	134122752	134122752	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr11:134122752C>G	ENST00000341541.3	-	1	486	c.25G>C	c.(25-27)Gct>Cct	p.A9P	THYN1_ENST00000392595.2_Missense_Mutation_p.A9P|ACAD8_ENST00000537423.1_5'Flank|THYN1_ENST00000525677.1_5'UTR|THYN1_ENST00000392594.3_Missense_Mutation_p.A9P|ACAD8_ENST00000543332.1_5'Flank|ACAD8_ENST00000281182.4_5'Flank|ACAD8_ENST00000374752.4_5'Flank|THYN1_ENST00000352327.5_Missense_Mutation_p.A9P	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	9						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		GAAGTCCCAGCCAGCCTCTTC	0.512																																						uc001qhf.3																			0				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7						c.(25-27)Gct>Cct		Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.							65	68	67					11																	134122752		2201	4297	6498	SO:0001583	missense	29087					nucleus		g.chr11:134122752C>G	BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.25G>C	11.37:g.134122752C>G	ENSP00000341657:p.Ala9Pro		Somatic				THYN1_uc001qhg.3_Missense_Mutation_p.A9P|THYN1_uc001qhh.3_Missense_Mutation_p.A9P|THYN1_uc001qhi.3_Missense_Mutation_p.A9P|THYN1_uc001qhj.3_Missense_Mutation_p.A9P|THYN1_uc009zdb.3_Missense_Mutation_p.A9P|ACAD8_uc009zdc.3_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.2_5'Flank|ACAD8_uc001qhk.3_5'Flank|ACAD8_uc001qhl.3_5'Flank	p.A9P	NM_001037305	NP_954995	WXS	Illumina GAIIx	Phase_I	Q9P016	THYN1_HUMAN		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)	1	127	-	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	9					Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	ENST00000341541.3	37	c.25G>C	CCDS8496.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791521	0.31685	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594;ENST00000352327;ENST00000534274	.	.	.	4.87	-4.11	0.03928	.	1.452300	0.04306	N	0.348115	T	0.15652	0.0377	N	0.12182	0.205	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	0.10200	-1.0640	9	0.23891	T	0.37	-27.3705	0.2404	0.00191	0.2522:0.2481:0.2477:0.2519	.	9;9;9	E9PPQ6;Q9P016-2;Q9P016	.;.;THYN1_HUMAN	P	9	.	ENSP00000341657:A9P	A	-	1	0	THYN1	133627962	0.000000	0.05858	0.001000	0.08648	0.671000	0.39405	-1.152000	0.03172	-0.572000	0.06006	-0.152000	0.13540	GCT		0.512	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393599.1	NM_014174		3	148	0	0	0	1	0	3	148					G	134122752	C	G	134122752	3	3	1	1	0	0	0	0	1	0	0	0	15883	739	26	4	680	4	THYN1	11	134122752	Missense_Mutation	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08	12698017	134122752	883764	24	24											
A2ML1	144568	broad.mit.edu	37	12	9013729	9013729	+	Splice_Site	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:9013729A>G	ENST00000299698.7	+	28	3519		c.e28-1		A2ML1_ENST00000539547.1_Splice_Site	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTCACTTTTTAGGACCCAATG	0.433																																						uc001quz.4																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.e28-2		Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.							116	118	117					12																	9013729		1941	4139	6080	SO:0001630	splice_region_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013729A>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3340-1A>G	12.37:g.9013729A>G			Somatic				A2ML1_uc001qva.1_Splice_Site_p.D694_splice|A2ML1_uc010sgm.2_Splice_Site_p.D614_splice	p.D1114_splice	NM_144670	NP_653271	WXS	Illumina GAIIx	Phase_I	B3KVV6	B3KVV6_HUMAN			28	3438	+			958						Splice_Site	SNP	ENST00000299698.7	37	c.3340_splice	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595175	0.46318	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	.	.	.	3.45	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.43	0.38604	0.8204:0.1796:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8904996	1.000000	0.71417	0.677000	0.29947	0.819000	0.46315	7.399000	0.79935	0.680000	0.31366	0.460000	0.39030	.		0.433	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	3	193	0	0	0	1	0	3	193					G	9013729	A	G	9013729	5	3	1	1	0	0	0	0	0	0	1	0	5	434	15	3	3448	3	A2ML1	12	9013729	Splice_Site	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		9013729	124838166	25	25											
CCDC38	120935	broad.mit.edu	37	12	96310945	96310945	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr12:96310945A>C	ENST00000344280.3	-	4	823	c.266T>G	c.(265-267)tTt>tGt	p.F89C	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	89										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTGGCCCAAACTTTTCAAA	0.373																																						uc001tek.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(265-267)tTt>tGt		Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.							87	84	85					12																	96310945		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96310945A>C	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.266T>G	12.37:g.96310945A>C	ENSP00000345470:p.Phe89Cys		Somatic					p.F89C	NM_182496	NP_872302	WXS	Illumina GAIIx	Phase_I	Q502W7	CCD38_HUMAN			3	500	-			89					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.266T>G	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270605	0.40194	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.32988	1.43	5.54	1.79	0.24919	.	0.840158	0.10504	N	0.666927	T	0.22820	0.0551	L	0.27053	0.805	0.09310	N	1	D	0.59357	0.985	P	0.46796	0.527	T	0.09840	-1.0656	10	0.38643	T	0.18	0.0074	4.3683	0.11235	0.6132:0.0:0.0824:0.3045	.	89	Q502W7	CCD38_HUMAN	C	89;49	ENSP00000345470:F89C	ENSP00000345470:F89C	F	-	2	0	CCDC38	94835076	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	1.153000	0.31676	0.141000	0.18875	-0.344000	0.07964	TTT		0.373	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		6	94	0	0	0	1	0	6	94					C	96310945	A	C	96310945	3	2	1	1	0	0	0	0	1	0	0	0	2810	14	1	5	1477	5	CCDC38	12	96310945	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08	87297216	96310945	37540950	26	26											
TEP1	7011	broad.mit.edu	37	14	20869182	20869182	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:20869182G>T	ENST00000262715.5	-	9	1550	c.1510C>A	c.(1510-1512)Cta>Ata	p.L504I	TEP1_ENST00000556935.1_Missense_Mutation_p.L396I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	504	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				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)		TTCCCCCGTAGGCTCAGCTCC	0.547																																						uc001vxe.3																			0				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						c.(1510-1512)Cta>Ata		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							142	117	125					14																	20869182		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20869182G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1510C>A	14.37:g.20869182G>T	ENSP00000262715:p.Leu504Ile		Somatic				TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.L396I	p.L504I	NM_007110	NP_009041	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	8	1550	-	all_cancers(95;0.00123)	all_lung(585;0.235)	504			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1510C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425462	0.62733	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.14893	2.47;2.47	5.71	1.56	0.23342	TROVE (2);	0.270585	0.30658	N	0.009141	T	0.30947	0.0781	M	0.73962	2.25	0.43430	D	0.995591	P;D	0.57571	0.879;0.98	P;P	0.59703	0.662;0.862	T	0.01786	-1.1274	10	0.56958	D	0.05	-6.154	6.0473	0.19768	0.3145:0.1397:0.5458:0.0	.	396;504	G3V5X7;Q99973	.;TEP1_HUMAN	I	504;504;396	ENSP00000262715:L504I;ENSP00000452574:L396I	ENSP00000262715:L504I	L	-	1	2	TEP1	19939022	0.886000	0.30341	0.245000	0.24217	0.681000	0.39784	1.160000	0.31761	-0.003000	0.14444	0.555000	0.69702	CTA		0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		51	107	0	0	0	1	0	51	107					T	20869182	G	T	20869182	3	4	1	1	0	0	0	0	1	0	0	0	15756	991	35	4	6561	4	TEP1	14	20869182	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		20869182	86480358	27	27											
MTHFD1	4522	broad.mit.edu	37	14	64882196	64882196	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr14:64882196G>C	ENST00000545908.1	+	5	758	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	MTHFD1_ENST00000216605.8_Missense_Mutation_p.E121Q			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	121	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TATTGCACCCGAGAAGGATGT	0.383																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc010aqf.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(529-531)Gag>Cag		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						228	211	217					14																	64882196		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64882196G>C	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.529G>C	14.37:g.64882196G>C	ENSP00000438588:p.Glu177Gln		Somatic				MTHFD1_uc010aqe.2_Missense_Mutation_p.E157Q|MTHFD1_uc001xhb.3_Missense_Mutation_p.E121Q	p.E177Q	NM_005956	NP_005947	WXS	Illumina GAIIx	Phase_I	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	4	748	+			121			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.529G>C		.	.	.	.	.	.	.	.	.	.	G	13.94	2.387894	0.42308	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.25085	2.6;2.63;2.61;1.82	4.96	4.96	0.65561	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.79123	2.44	0.80722	D	1	B;B;B	0.30455	0.215;0.28;0.032	B;B;B	0.31946	0.085;0.138;0.036	T	0.35895	-0.9770	10	0.59425	D	0.04	-23.9048	18.5926	0.91218	0.0:0.0:1.0:0.0	.	177;121;121	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	Q	177;121;177;101	ENSP00000438588:E177Q;ENSP00000450560:E121Q;ENSP00000216605:E177Q;ENSP00000451309:E101Q	ENSP00000216605:E121Q	E	+	1	0	MTHFD1	63951949	1.000000	0.71417	0.925000	0.36789	0.181000	0.23173	9.348000	0.97062	2.462000	0.83206	0.455000	0.32223	GAG		0.383	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			3	280	0	0	0	1	0	3	280					C	64882196	G	C	64882196	3	2	1	1	0	0	0	0	1	0	0	0	9927	1059	37	4	379	4	MTHFD1	14	64882196	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	44013014	64882196	42467344	28	28											
INO80	54617	broad.mit.edu	37	15	41364115	41364115	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr15:41364115T>C	ENST00000361937.3	-	12	1961	c.1537A>G	c.(1537-1539)Att>Gtt	p.I513V	INO80_ENST00000401393.3_Missense_Mutation_p.I513V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	513	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATTAAAAATTGTGGGCTGT	0.448																																						uc001zni.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1537-1539)Att>Gtt		Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.							101	107	105					15																	41364115		2203	4300	6503	SO:0001583	missense	54617				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding	g.chr15:41364115T>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1537A>G	15.37:g.41364115T>C	ENSP00000355205:p.Ile513Val		Somatic				INO80_uc010ucu.2_Non-coding_Transcript	p.I513V	NM_017553	NP_060023	WXS	Illumina GAIIx	Phase_I	Q9ULG1	INO80_HUMAN			11	1750	-			513			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1537A>G	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653972	0.67472	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93247	-3.19;-3.19	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	M	0.61703	1.905	0.54753	D	0.999987	P	0.41947	0.766	B	0.34346	0.18	D	0.92032	0.5634	10	0.72032	D	0.01	.	14.8253	0.70107	0.0:0.0:0.0:1.0	.	513	Q9ULG1	INO80_HUMAN	V	513	ENSP00000355205:I513V;ENSP00000384686:I513V	ENSP00000355205:I513V	I	-	1	0	INO80	39151407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	2.096000	0.63516	0.529000	0.55759	ATT		0.448	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		3	218	0	0	0	1	0	3	218					C	41364115	T	C	41364115	3	2	1	1	0	0	0	0	1	0	0	0	7746	1493	52	3	3233	3	INO80	15	41364115	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		41364115	61167277	29	29											
AXIN1	8312	broad.mit.edu	37	16	364573	364573	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:364573G>A	ENST00000262320.3	-	3	1360	c.989C>T	c.(988-990)gCa>gTa	p.A330V	AXIN1_ENST00000354866.3_Missense_Mutation_p.A330V|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	330	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGGTGTCTGCATCGCTGGA	0.627																																						uc002cgp.2																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(988-990)gCa>gTa		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							82	60	68					16																	364573		2203	4300	6503	SO:0001583	missense	8312				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:364573G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.989C>T	16.37:g.364573G>A	ENSP00000262320:p.Ala330Val		Somatic				LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.A330V	p.A330V	NM_003502	NP_003493	WXS	Illumina GAIIx	Phase_I	O15169	AXIN1_HUMAN			2	1378	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	330			Interaction with TP53 (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.989C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944483	0.73672	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.82619	-1.63;-1.63	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.81497	2.545	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.85130	0.997;0.653	D	0.91528	0.5240	10	0.48119	T	0.1	4.4309	18.8372	0.92167	0.0:0.0:1.0:0.0	.	330;330	O15169-2;O15169	.;AXIN1_HUMAN	V	330	ENSP00000262320:A330V;ENSP00000346935:A330V	ENSP00000262320:A330V	A	-	2	0	AXIN1	304574	1.000000	0.71417	0.900000	0.35374	0.898000	0.52572	9.647000	0.98478	2.449000	0.82847	0.436000	0.28706	GCA		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			14	56	0	0	0	1	0	14	56					A	364573	G	A	364573	3	1	1	1	0	0	0	0	1	0	0	0	1236	1319	46	2	1635	2	AXIN1	16	364573	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		364573	89990180	30	30											
CDH8	1006	broad.mit.edu	37	16	61687826	61687826	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr16:61687826G>C	ENST00000577390.1	-	12	3040	c.2086C>G	c.(2086-2088)Ccc>Gcc	p.P696A	CDH8_ENST00000299345.6_Missense_Mutation_p.P696A|CDH8_ENST00000577730.1_Missense_Mutation_p.P696A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	696					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCTTACGGGGTAAAAATCCA	0.408																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(2086-2088)Ccc>Gcc		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							106	104	105					16																	61687826		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687826G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2086C>G	16.37:g.61687826G>C	ENSP00000462701:p.Pro696Ala		Somatic					p.P696A	NM_001796	NP_001787	WXS	Illumina GAIIx	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	3041	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	696					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2086C>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	7.723	0.697656	0.15106	.	.	ENSG00000150394	ENST00000299345	T	0.75704	-0.96	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	L	0.53249	1.67	0.80722	D	1	B	0.23249	0.082	B	0.33568	0.166	T	0.67313	-0.5702	10	0.16420	T	0.52	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	696	P55286	CADH8_HUMAN	A	696	ENSP00000299345:P696A	ENSP00000299345:P696A	P	-	1	0	CDH8	60245327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.679000	0.91253	0.655000	0.94253	CCC		0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		39	188	0	0	0	1	0	39	188					C	61687826	G	C	61687826	3	2	1	1	0	0	0	0	1	0	0	0	3116	1261	44	4	317	4	CDH8	16	61687826	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	61323253	61687826	28666927	31	31											
C18orf62	284274	broad.mit.edu	37	18	73130763	73130763	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr18:73130763T>C	ENST00000579022.1	-	2	377	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000382638.3_Intron|SMIM21_ENST00000584508.1_Missense_Mutation_p.R80G|RP11-321M21.3_ENST00000578340.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	80						integral component of membrane (GO:0016021)		p.R80G(1)									ctgttggcccttttccagtct	0.368																																						uc002lma.1																			1	Substitution - Missense(1)	p.R80G(2)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(238-240)Agg>Ggg		Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.							136	131	133					18																	73130763		2203	4300	6503	SO:0001583	missense	284274					integral to membrane		g.chr18:73130763T>C		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 62"	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.238A>G	18.37:g.73130763T>C	ENSP00000462106:p.Arg80Gly		Somatic				C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	p.R80G	NM_001037331	NP_001032408	WXS	Illumina GAIIx	Phase_I	Q3B7S5	CR062_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)	1	309	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	80						Missense_Mutation	SNP	ENST00000579022.1	37	c.238A>G	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	T	4.260	0.047263	0.08243	.	.	ENSG00000206026	ENST00000382638	.	.	.	2.47	-1.31	0.09230	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25710	-1.0124	8	0.87932	D	0	.	5.9114	0.19031	0.0:0.5421:0.0:0.4579	.	80	Q3B7S5	CR062_HUMAN	G	80	.	ENSP00000372083:R80G	R	-	1	2	C18orf62	71259751	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.070000	0.14573	0.345000	0.23873	0.477000	0.44152	AGG		0.368	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		3	199	0	0	0	1	0	3	199					C	73130763	T	C	73130763	3	2	1	1	0	0	0	0	1	0	0	0	1906	1608	56	3	75	3	C18orf62	18	73130763	Missense_Mutation	SNP	T	TCGA-BJ-A0YZ-01A-11D-A10S-08		73130763	4946485	32	32											
MUC16	94025	broad.mit.edu	37	19	9064376	9064376	+	Silent	SNP	C	C	T	rs150330701	byFrequency	TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:9064376C>T	ENST00000397910.4	-	3	23273	c.23070G>A	c.(23068-23070)ccG>ccA	p.P7690P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7692	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						GTAAAGACAGCGGGGAGGATG	0.562													N|||	11	0.00219649	0.0076	0.0014	5008	,	,		17804	0		0	False		,,,				2504	0					uc002mkp.3																			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.(23068-23070)ccG>ccA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.		C		16,4030		0,16,2007	79	89	86		23070	-4.4	0.0	19	dbSNP_134	86	0,8342		0,0,4171	no	coding-synonymous	MUC16	NM_024690.2		0,16,6178	TT,TC,CC		0.0,0.3955,0.1292		7690/14508	9064376	16,12372	2023	4171	6194	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064376C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23070G>A	19.37:g.9064376C>T			Somatic					p.P7690P	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	23274	-			7692			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.23070G>A	CCDS54212.1																																																																																				0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	55	0	0	0	1	0	7	55					T	9064376	C	T	9064376	2	4	1	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	9064376	Silent	SNP	C	TCGA-BJ-A0YZ-01A-11D-A10S-08		9064376	50064607	33	33											
VN1R1	57191	broad.mit.edu	37	19	57967438	57967438	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967438G>C	ENST00000321039.3	-	1	416	c.417C>G	c.(415-417)atC>atG	p.I139M	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	139			I -> T (in allele VN1R1*2). {ECO:0000269|PubMed:12826614}.		response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAAGGCAGATGGTGCTGA	0.428																																						uc002qos.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(415-417)atC>atG		Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.							99	91	94					19																	57967438		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967438G>C	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.417C>G	19.37:g.57967438G>C	ENSP00000322339:p.Ile139Met		Somatic					p.I139M	NM_020633	NP_065684	WXS	Illumina GAIIx	Phase_I	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	0	670	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	139		I -> T (in allele VN1R1*2).			B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.417C>G	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485130	0.44147	.	.	ENSG00000178201	ENST00000321039	T	0.38401	1.14	4.18	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36524	0.0970	L	0.42245	1.32	0.21290	N	0.999732	P	0.39326	0.668	P	0.45639	0.488	T	0.23404	-1.0189	9	0.87932	D	0	.	8.2359	0.31625	0.1982:0.0:0.8018:0.0	.	139	Q9GZP7	VN1R1_HUMAN	M	139	ENSP00000322339:I139M	ENSP00000322339:I139M	I	-	3	3	VN1R1	62659250	0.996000	0.38824	0.029000	0.17559	0.009000	0.06853	2.720000	0.47252	0.545000	0.28902	0.638000	0.83543	ATC		0.428	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		24	131	0	0	0	1	0	24	131					C	57967438	G	C	57967438	3	2	1	1	0	0	0	0	1	0	0	0	17175	932	33	4	648	4	VN1R1	19	57967438	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	48903062	57967438	1161545	34	34			1	1		3	3	275	G		5.634331e-08
VN1R1	57191	broad.mit.edu	37	19	57967675	57967675	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967675G>A	ENST00000321039.3	-	1	179	c.180C>T	c.(178-180)atC>atT	p.I60I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	60					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AATTTCCCAGGATCCCAACTC	0.413																																						uc002qos.2																			0		p.G59E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(178-180)atC>atT		Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.							51	52	52					19																	57967675		2203	4300	6503	SO:0001819	synonymous_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967675G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.180C>T	19.37:g.57967675G>A			Somatic					p.I60I	NM_020633	NP_065684	WXS	Illumina GAIIx	Phase_I	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	0	433	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	60					B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	ENST00000321039.3	37	c.180C>T	CCDS12951.1																																																																																				0.413	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		14	88	0	0	0	1	0	14	88					A	57967675	G	A	57967675	2	1	1	1	0	0	0	0	0	0	0	1	17175	1164	41	2		2	VN1R1	19	57967675	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	237	57967675	1161308	35	35			1	1		3	3	275	G		5.634331e-08
VN1R1	57191	broad.mit.edu	37	19	57967712	57967712	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr19:57967712G>A	ENST00000321039.3	-	1	142	c.143C>T	c.(142-144)tCa>tTa	p.S48L	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	48					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GCTAATCCCTGATTTTACTTT	0.358																																						uc002qos.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(142-144)tCa>tTa		Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.							55	56	56					19																	57967712		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967712G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.143C>T	19.37:g.57967712G>A	ENSP00000322339:p.Ser48Leu		Somatic					p.S48L	NM_020633	NP_065684	WXS	Illumina GAIIx	Phase_I	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	0	396	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	48					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.143C>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	3.279	-0.147503	0.06627	.	.	ENSG00000178201	ENST00000321039	T	0.28069	1.63	4.18	-0.788	0.10939	.	.	.	.	.	T	0.07413	0.0187	N	0.00637	-1.305	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	9	0.30078	T	0.28	.	2.1666	0.03839	0.4412:0.3232:0.0929:0.1426	.	48	Q9GZP7	VN1R1_HUMAN	L	48	ENSP00000322339:S48L	ENSP00000322339:S48L	S	-	2	0	VN1R1	62659524	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.324000	0.08589	-1.353000	0.01230	TCA		0.358	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		17	91	0	0	0	1	0	17	91					A	57967712	G	A	57967712	3	1	1	1	0	0	0	0	1	0	0	0	17175	1294	45	2	922	2	VN1R1	19	57967712	Missense_Mutation	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08	37	57967712	1161271	36	36			1	1		3	3	275	G		5.634331e-08
UMODL1	89766	broad.mit.edu	37	21	43547305	43547305	+	Silent	SNP	G	G	A			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chr21:43547305G>A	ENST00000408910.2	+	19	3483	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.P1217P|UMODL1_ENST00000400424.2_Silent_p.P1089P|UMODL1_ENST00000408989.2_Silent_p.P1289P	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1161	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						GGGCAACCCCGTCTAGCAACG	0.562																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zag.1																			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.(3865-3867)ccG>ccA		Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.							65	67	66					21																	43547305		1963	4145	6108	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547305G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3483G>A	21.37:g.43547305G>A			Somatic				UMODL1_uc002zad.1_Silent_p.P1089P|UMODL1_uc002zae.1_Silent_p.P1217P|UMODL1_uc002zaf.1_Silent_p.P1161P|UMODL1_uc002zal.1_Silent_p.P111P|UMODL1_uc010gpa.1_5'Flank	p.P1289P	NM_173568	NP_001186456	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			17	3867	+			1161					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3867G>A	CCDS42936.1																																																																																				0.562	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	126	0	0	0	1	0	5	126					A	43547305	G	A	43547305	2	1	1	1	0	0	0	0	0	0	0	1	16977	1132	40	1		1	UMODL1	21	43547305	Silent	SNP	G	TCGA-BJ-A0YZ-01A-11D-A10S-08		43547305	4582590	37	37											
DDX3Y	8653	broad.mit.edu	37	Y	15024673	15024673	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0YZ-01A-11D-A10S-08	TCGA-BJ-A0YZ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97e645e-024e-469f-8976-3798876197f3	9fd240bd-24f1-4679-82ba-c81437321e8d	g.chrY:15024673A>G	ENST00000336079.3	+	5	422	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DDX3Y_ENST00000360160.4_Missense_Mutation_p.I106V	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	106						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						CTATGATGGTATTGGCAATCG	0.433																																						uc004fsu.1																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(316-318)Att>Gtt		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked (DDX3Y), transcript variant 1, mRNA.							132	130	130					Y																	15024673		629	2001	2630	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15024673A>G	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.316A>G	Y.37:g.15024673A>G	ENSP00000336725:p.Ile106Val		Somatic				DDX3Y_uc010nwv.1_Missense_Mutation_p.I106V|DDX3Y_uc011naq.1_Missense_Mutation_p.I106V|DDX3Y_uc004fsv.2_Missense_Mutation_p.I106V|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.I103V	p.I106V	NM_001122665	NP_004651	WXS	Illumina GAIIx	Phase_I	O15523	DDX3Y_HUMAN			5	625	+			106					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.316A>G	CCDS14782.1																																																																																				0.433	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		4	65	0	0	0	1	0	4	65					G	15024673	A	G	15024673	3	3	1	1	0	0	0	0	1	0	0	0	4359	449	16	3	334	3	DDX3Y	24	15024673	Missense_Mutation	SNP	A	TCGA-BJ-A0YZ-01A-11D-A10S-08		15024673	44348893	38	38											
RAP1GAP	5909	broad.mit.edu	37	1	21928276	21928276	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:21928276G>A	ENST00000374765.4	-	20	1753	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.A544V|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A582V|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A549V|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A603V	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	518					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTTCTGACCAGCCGGAGGGCT	0.667																																						uc001bev.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1807-1809)gCt>gTt		Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.							51	48	49					1																	21928276		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity	g.chr1:21928276G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1553C>T	1.37:g.21928276G>A	ENSP00000363897:p.Ala518Val		Somatic				RAP1GAP_uc001bew.3_Missense_Mutation_p.A582V|RAP1GAP_uc001bey.3_Missense_Mutation_p.A544V|RAP1GAP_uc001bex.3_Missense_Mutation_p.A518V	p.A603V	NM_001145657	NP_001139129	WXS	Illumina GAIIx	Phase_I	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	17	1826	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	518					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1808C>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	g	14.53	2.564132	0.45694	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89415	-2.48;-2.48;-2.51;-2.47	4.72	4.72	0.59763	.	0.398003	0.25394	N	0.030988	T	0.81494	0.4834	L	0.38175	1.15	0.25936	N	0.982931	P;P;B;P	0.39862	0.692;0.454;0.356;0.454	B;B;B;B	0.34536	0.117;0.038;0.185;0.038	T	0.75551	-0.3278	10	0.39692	T	0.17	-5.9044	10.971	0.47438	0.0:0.189:0.811:0.0	.	544;518;548;518	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	V	582;549;544;518;548;603	ENSP00000290101:A582V;ENSP00000363893:A549V;ENSP00000441661:A544V;ENSP00000363897:A518V	ENSP00000290101:A582V	A	-	2	0	RAP1GAP	21800863	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.163000	0.50763	2.452000	0.82932	0.556000	0.70494	GCT		0.667	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		12	65	0	0	0	1	0	12	65					A	21928276	G	A	21928276	3	1	2	1	0	0	0	0	1	0	0	0	13037	971	34	2	458	2	RAP1GAP	1	21928276	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		21928276	227322345	1	39											
ZMYM1	79830	broad.mit.edu	37	1	35579878	35579878	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:35579878T>A	ENST00000373330.1	+	11	2621	c.2447T>A	c.(2446-2448)tTa>tAa	p.L816*	ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.L816*|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	816						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCGTACATTACTATCTGTG	0.343																																						uc001bym.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2446-2448)tTa>tAa		Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.							99	89	92					1																	35579878		1874	4119	5993	SO:0001587	stop_gained	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579878T>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2447T>A	1.37:g.35579878T>A	ENSP00000362427:p.Leu816*		Somatic				ZMYM1_uc001byn.3_Nonsense_Mutation_p.L816*|ZMYM1_uc010ohu.2_Nonsense_Mutation_p.L797*|ZMYM1_uc001byo.3_Nonsense_Mutation_p.L456*|ZMYM1_uc009vut.3_Nonsense_Mutation_p.L741*	p.L816*	NM_024772	NP_079048	WXS	Illumina GAIIx	Phase_I	Q5SVZ6	ZMYM1_HUMAN			9	2593	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	816					D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	ENST00000373330.1	37	c.2447T>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883886	0.51908	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	3.91	3.91	0.45181	.	0.000000	0.37437	N	0.002089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3508	9.4269	0.38586	0.0:0.0:0.0:1.0	.	.	.	.	X	816;741;816	.	.	L	+	2	0	ZMYM1	35352465	0.002000	0.14202	0.003000	0.11579	0.014000	0.08584	1.321000	0.33678	2.006000	0.58801	0.374000	0.22700	TTA		0.343	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		4	121	0	0	0	1	0	4	121					A	35579878	T	A	35579878	4	1	2	1	0	0	0	0	0	1	0	0	17696	1764	61	5	2481	5	ZMYM1	1	35579878	Nonsense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13651602	35579878	213670743	2	40											
HEYL	26508	broad.mit.edu	37	1	40092678	40092678	+	Missense_Mutation	SNP	G	G	A	rs139668981	byFrequency	TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:40092678G>A	ENST00000372852.3	-	5	807	c.488C>T	c.(487-489)tCg>tTg	p.S163L	HEYL_ENST00000535435.1_Missense_Mutation_p.S135L	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	163	Pro-rich.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|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 corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCGTGGGCGAAGGCTCCAT	0.652																																						uc001cdp.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(487-489)tCg>tTg		Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	67	60	63		488	2.0	0.1	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense	HEYL	NM_014571.3	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	163/329	40092678	3,13003	2203	4300	6503	SO:0001583	missense	26508				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:40092678G>A	BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"Basic helix-loop-helix proteins"	4882	protein-coding gene	gene with protein product	"hairy/enhancer-of-split related with YRPW motif 3"	609034	"hairy/enhancer-of-split related with YRPW motif-like"			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.488C>T	1.37:g.40092678G>A	ENSP00000361943:p.Ser163Leu		Somatic				HEYL_uc010oiw.2_Missense_Mutation_p.S135L	p.S163L	NM_014571	NP_055386	WXS	Illumina GAIIx	Phase_I	Q9NQ87	HEYL_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	539	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	163			Pro-rich.		Q5TG99	Missense_Mutation	SNP	ENST00000372852.3	37	c.488C>T	CCDS439.1	.	.	.	.	.	.	.	.	.	.	G	7.414	0.635416	0.14322	6.81E-4	0.0	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.60040	0.23;0.22	5.02	2.02	0.26589	.	0.341096	0.30501	N	0.009484	T	0.49047	0.1534	L	0.58101	1.795	0.20196	N	0.999926	B	0.13145	0.007	B	0.08055	0.003	T	0.43653	-0.9378	10	0.49607	T	0.09	-16.095	8.0745	0.30708	0.1279:0.1326:0.7395:0.0	.	163	Q9NQ87	HEYL_HUMAN	L	163;135	ENSP00000361943:S163L;ENSP00000439071:S135L	ENSP00000361943:S163L	S	-	2	0	HEYL	39865265	0.002000	0.14202	0.083000	0.20561	0.107000	0.19398	0.847000	0.27696	0.131000	0.18576	0.462000	0.41574	TCG		0.652	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571		40	51	0	0	0	1	0	40	51					A	40092678	G	A	40092678	3	1	2	1	0	0	0	0	1	0	0	0	7080	1059	37	1	502	1	HEYL	1	40092678	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	4512800	40092678	209157943	3	41											
ADAM15	8751	broad.mit.edu	37	1	155029547	155029547	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:155029547C>T	ENST00000356955.2	+	11	1219	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.A373V|ADAM15_ENST00000359280.4_Missense_Mutation_p.A373V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Missense_Mutation_p.A373V|ADAM15_ENST00000531455.1_Missense_Mutation_p.A383V|ADAM15_ENST00000447332.3_Missense_Mutation_p.A357V|ADAM15_ENST00000271836.6_Missense_Mutation_p.A373V|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.A373V|ADAM15_ENST00000355956.2_Missense_Mutation_p.A373V	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			CCAGCCCCAGCCAAGACCTGC	0.642																																						uc001fgr.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(1117-1119)gCc>gTc		Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.							40	43	42					1																	155029547		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	g.chr1:155029547C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1118C>T	1.37:g.155029547C>T	ENSP00000349436:p.Ala373Val		Somatic				LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Missense_Mutation_p.A58V|ADAM15_uc010pet.1_Missense_Mutation_p.A357V|ADAM15_uc010peu.1_Missense_Mutation_p.A390V|ADAM15_uc001fgx.1_Missense_Mutation_p.A373V|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.A373V|ADAM15_uc001fgs.1_Missense_Mutation_p.A373V|ADAM15_uc010pev.1_Missense_Mutation_p.A383V|ADAM15_uc001fgu.1_Missense_Mutation_p.A373V|ADAM15_uc001fgv.1_Missense_Mutation_p.A373V|ADAM15_uc001fgw.1_Missense_Mutation_p.A373V	p.A373V	NM_207197	NP_997080	WXS	Illumina GAIIx	Phase_I	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		10	1219	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		373			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.1118C>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422378	0.83559	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.76	3.85	0.44370	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.44688	D	0.000428	T	0.59649	0.2209	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.76494	0.988;0.988;0.974;0.999;0.997;0.984;0.984;0.984;0.997;0.999;0.988	D;D;P;D;D;P;P;P;D;D;D	0.79108	0.909;0.909;0.688;0.986;0.984;0.853;0.853;0.853;0.984;0.992;0.909	T	0.63332	-0.6661	10	0.52906	T	0.07	.	8.6793	0.34198	0.0:0.8973:0.0:0.1027	.	383;390;357;373;373;373;373;373;373;373;370	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	V	373;373;373;373;373;373;373;383	ENSP00000349436:A373V;ENSP00000403843:A373V;ENSP00000352226:A373V;ENSP00000353892:A373V;ENSP00000357397:A373V;ENSP00000348227:A373V;ENSP00000271836:A373V;ENSP00000432927:A383V	ENSP00000271836:A373V	A	+	2	0	ADAM15	153296171	0.183000	0.23186	1.000000	0.80357	0.993000	0.82548	1.126000	0.31344	1.240000	0.43803	0.655000	0.94253	GCC		0.642	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		13	52	0	0	0	1	0	13	52					T	155029547	C	T	155029547	3	4	2	1	0	0	0	0	1	0	0	0	237	739	26	2	1160	2	ADAM15	1	155029547	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	114936869	155029547	94221074	4	42											
TROVE2	6738	broad.mit.edu	37	1	193038698	193038698	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:193038698A>G	ENST00000367446.3	+	2	724	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.K172E|TROVE2_ENST00000367443.1_Missense_Mutation_p.K172E|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.K172E|TROVE2_ENST00000367444.3_Missense_Mutation_p.K172E|TROVE2_ENST00000367445.3_Missense_Mutation_p.K172E	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	172	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACAAAATATAAACAGAGAAA	0.458																																						uc001gss.3																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(514-516)Aaa>Gaa		Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.							81	79	79					1																	193038698		1890	4119	6009	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding	g.chr1:193038698A>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.514A>G	1.37:g.193038698A>G	ENSP00000356416:p.Lys172Glu		Somatic				TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.K172E|TROVE2_uc009wyp.3_Missense_Mutation_p.K172E|TROVE2_uc001gsw.3_Missense_Mutation_p.K172E|TROVE2_uc009wyq.3_Missense_Mutation_p.K172E|TROVE2_uc001gsx.2_Missense_Mutation_p.K172E	p.K172E	NM_001173524	NP_004591	WXS	Illumina GAIIx	Phase_I	P10155	RO60_HUMAN			1	890	+			172			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.514A>G	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883187	0.91740	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441;ENST00000512587	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.75	5.75	0.90469	TROVE (2);	0.047145	0.85682	D	0.000000	T	0.37625	0.1010	M	0.80616	2.505	0.80722	D	1	P;P;P;D	0.58268	0.648;0.648;0.869;0.982	P;P;P;P	0.56865	0.652;0.652;0.583;0.808	T	0.20773	-1.0265	10	0.19590	T	0.45	-1.045	16.0663	0.80878	1.0:0.0:0.0:0.0	.	172;172;172;172	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	E	172;172;172;172;172;172;113	ENSP00000383752:K172E;ENSP00000356416:K172E;ENSP00000356413:K172E;ENSP00000356415:K172E;ENSP00000356414:K172E;ENSP00000356411:K172E;ENSP00000424612:K113E	ENSP00000356411:K172E	K	+	1	0	TROVE2	191305321	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.770000	0.91746	2.201000	0.70794	0.533000	0.62120	AAA		0.458	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		43	110	0	0	0	1	0	43	110					G	193038698	A	G	193038698	3	3	2	1	0	0	0	0	1	0	0	0	16573	363	13	3	516	3	TROVE2	1	193038698	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	38009151	193038698	56211923	5	43											
CLK1	1195	broad.mit.edu	37	2	201719735	201719735	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr2:201719735C>A	ENST00000321356.4	-	10	1267	c.1132G>T	c.(1132-1134)Gta>Tta	p.V378L	CLK1_ENST00000434813.2_Missense_Mutation_p.V420L|CLK1_ENST00000409769.2_Missense_Mutation_p.V201L	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGGAAATACGGTAAACCCA	0.388																																						uc010zhi.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1258-1260)Gta>Tta		Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 2, mRNA.							96	94	95					2																	201719735		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201719735C>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1132G>T	2.37:g.201719735C>A	ENSP00000326830:p.Val378Leu		Somatic				CLK1_uc002uwe.2_Missense_Mutation_p.V378L|CLK1_uc002uwf.2_Missense_Mutation_p.V152L|CLK1_uc002uwg.2_Missense_Mutation_p.V227L	p.V420L	NM_001162407	NP_004062	WXS	Illumina GAIIx	Phase_I	P49759	CLK1_HUMAN			9	1593	-			378			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.1258G>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	1.759	-0.487345	0.04352	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.17528	2.27;2.27;2.27	5.1	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.205350	0.42172	D	0.000753	T	0.02649	0.0080	N	0.00121	-2.07	0.35566	D	0.805082	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.12837	0.008;0.005;0.005;0.005	T	0.37865	-0.9687	10	0.02654	T	1	.	8.1359	0.31054	0.0:0.7135:0.1484:0.138	.	420;348;378;201	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	L	378;348;201;420	ENSP00000326830:V378L;ENSP00000386358:V201L;ENSP00000394734:V420L	ENSP00000326830:V378L	V	-	1	0	CLK1	201427980	0.035000	0.19736	0.999000	0.59377	0.856000	0.48823	0.250000	0.18235	2.525000	0.85131	0.563000	0.77884	GTA		0.388	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			48	80	0	0	0	1	0	48	80					A	201719735	C	A	201719735	3	1	2	1	0	0	0	0	1	0	0	0	3536	536	19	4	338	4	CLK1	2	201719735	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		201719735	41479638	6	44											
N4BP2	55728	broad.mit.edu	37	4	40113746	40113746	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:40113746A>G	ENST00000261435.6	+	6	1957	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	514					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						ATAATTATAGATAATACAAAC	0.274																																						uc003guy.4																			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.(1540-1542)gAt>gGt		Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.							94	112	106					4																	40113746		2203	4297	6500	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40113746A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1541A>G	4.37:g.40113746A>G	ENSP00000261435:p.Asp514Gly		Somatic				N4BP2_uc010ifq.3_Missense_Mutation_p.D434G|N4BP2_uc010ifr.3_Missense_Mutation_p.D434G	p.D514G	NM_018177	NP_060647	WXS	Illumina GAIIx	Phase_I	Q86UW6	N4BP2_HUMAN			5	1879	+			514					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1541A>G	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691125	0.88735	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.60797	0.16	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.80103	-0.1522	10	0.87932	D	0	-27.3898	16.635	0.85050	1.0:0.0:0.0:0.0	.	514;514	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	514;434	ENSP00000261435:D514G	ENSP00000261435:D514G	D	+	2	0	N4BP2	39790141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.433000	0.90291	2.330000	0.79161	0.477000	0.44152	GAT		0.274	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		124	133	0	0	0	1	0	124	133					G	40113746	A	G	40113746	3	3	2	1	0	0	0	0	1	0	0	0	10110	333	12	3	1555	3	N4BP2	4	40113746	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08		40113746	151040530	7	45											
MUC7	4589	broad.mit.edu	37	4	71339788	71339788	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:71339788T>C	ENST00000304887.5	+	2	240	c.50T>C	c.(49-51)tTc>tCc	p.F17S	MUC7_ENST00000514512.1_Intron|MUC7_ENST00000456088.1_Missense_Mutation_p.F17S|MUC7_ENST00000413702.1_Missense_Mutation_p.F17S	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	17					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGTGCTTGCTTCTCGGTAAGT	0.388																																						uc011cat.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(49-51)tTc>tCc		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							130	126	127					4																	71339788		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71339788T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.50T>C	4.37:g.71339788T>C	ENSP00000302021:p.Phe17Ser		Somatic				MUC7_uc011cau.2_Missense_Mutation_p.F17S|MUC7_uc003hfj.3_Missense_Mutation_p.F17S	p.F17S	NM_001145006	NP_689504	WXS	Illumina GAIIx	Phase_I	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		2	338	+			17					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.50T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198545	0.38806	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.55413	0.54;0.52;0.54;0.54	3.93	3.93	0.45458	.	.	.	.	.	T	0.55194	0.1905	N	0.24115	0.695	0.24752	N	0.992974	D	0.76494	0.999	D	0.72075	0.976	T	0.40478	-0.9561	8	.	.	.	-6.7394	9.4534	0.38741	0.0:0.0:0.0:1.0	.	17	Q8TAX7	MUC7_HUMAN	S	17	ENSP00000407422:F17S;ENSP00000427594:F17S;ENSP00000400585:F17S;ENSP00000302021:F17S	.	F	+	2	0	MUC7	71374377	0.966000	0.33281	0.997000	0.53966	0.504000	0.33889	2.887000	0.48586	2.005000	0.58758	0.460000	0.39030	TTC		0.388	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		49	97	0	0	0	1	0	49	97					C	71339788	T	C	71339788	3	2	2	1	0	0	0	0	1	0	0	0	9981	1783	62	3	52	3	MUC7	4	71339788	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	31226042	71339788	119814488	8	46											
SHROOM3	57619	broad.mit.edu	37	4	77660335	77660335	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77660335G>C	ENST00000296043.6	+	5	1962	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	337					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGGCCCGAGCCTCAGCAAA	0.552																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1009-1011)Gcc>Ccc		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							56	61	59					4																	77660335		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660335G>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1009G>C	4.37:g.77660335G>C	ENSP00000296043:p.Ala337Pro		Somatic				SHROOM3_uc011cbz.1_Missense_Mutation_p.A161P|SHROOM3_uc003hkf.1_Missense_Mutation_p.A212P|SHROOM3_uc003hkg.3_Missense_Mutation_p.A115P	p.A337P	NM_020859	NP_065910	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	1962	+			337					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1009G>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013781	0.35511	.	.	ENSG00000138771	ENST00000296043	T	0.47869	0.83	5.97	3.26	0.37387	.	0.766256	0.12196	N	0.490730	T	0.46444	0.1393	M	0.62723	1.935	0.19300	N	0.999978	P;B;B	0.49961	0.93;0.062;0.062	P;B;B	0.44860	0.462;0.023;0.023	T	0.24119	-1.0169	10	0.32370	T	0.25	-2.3986	8.1734	0.31268	0.1341:0.1308:0.7351:0.0	.	161;337;115	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	P	337	ENSP00000296043:A337P	ENSP00000296043:A337P	A	+	1	0	SHROOM3	77879359	0.001000	0.12720	0.018000	0.16275	0.627000	0.37826	1.187000	0.32090	0.384000	0.24942	0.655000	0.94253	GCC		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		48	95	0	0	0	1	0	48	95					C	77660335	G	C	77660335	3	2	2	1	0	0	0	0	1	0	0	0	14295	971	34	4	1027	4	SHROOM3	4	77660335	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	6320547	77660335	113493941	9	47											
SHROOM3	57619	broad.mit.edu	37	4	77661752	77661752	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77661752A>T	ENST00000296043.6	+	5	3379	c.2426A>T	c.(2425-2427)tAt>tTt	p.Y809F		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	809					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCATAACTATAGGCCCCAC	0.552																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2425-2427)tAt>tTt		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							59	67	64					4																	77661752		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661752A>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2426A>T	4.37:g.77661752A>T	ENSP00000296043:p.Tyr809Phe		Somatic				SHROOM3_uc011cbz.1_Missense_Mutation_p.Y633F|SHROOM3_uc003hkf.1_Missense_Mutation_p.Y684F|SHROOM3_uc003hkg.3_Missense_Mutation_p.Y587F	p.Y809F	NM_020859	NP_065910	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	3379	+			809					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2426A>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	a	14.31	2.497908	0.44455	.	.	ENSG00000138771	ENST00000296043	T	0.35973	1.28	5.52	1.48	0.22813	.	4.376620	0.00520	N	0.000188	T	0.38639	0.1048	M	0.62723	1.935	0.09310	N	1	B;B;B	0.18461	0.028;0.028;0.028	B;B;B	0.17433	0.018;0.018;0.018	T	0.16630	-1.0396	10	0.41790	T	0.15	-2.2554	6.6506	0.22959	0.588:0.1416:0.0:0.2705	.	633;809;587	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	F	809	ENSP00000296043:Y809F	ENSP00000296043:Y809F	Y	+	2	0	SHROOM3	77880776	.	.	0.005000	0.12908	0.002000	0.02628	.	.	0.026000	0.15269	0.375000	0.23000	TAT		0.552	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		29	80	0	0	0	1	0	29	80					T	77661752	A	T	77661752	3	4	2	1	0	0	0	0	1	0	0	0	14295	449	16	5	2444	5	SHROOM3	4	77661752	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	1417	77661752	113492524	10	48											
SEC24B	10427	broad.mit.edu	37	4	110454843	110454843	+	Splice_Site	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:110454843T>A	ENST00000265175.5	+	22	3643		c.e22+2		SEC24B_ENST00000399100.2_Splice_Site|SEC24B_ENST00000504968.2_Splice_Site	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B						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)		CAGAAAATGGTCAGTAGATTT	0.284																																						uc011cfp.2																			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.e23+2		Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.							144	131	135					4																	110454843		1809	4069	5878	SO:0001630	splice_region_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110454843T>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3588+2T>A	4.37:g.110454843T>A			Somatic				SEC24B_uc003hzk.3_Splice_Site_p.M1196_splice|SEC24B_uc003hzl.3_Splice_Site_p.M1161_splice|SEC24B_uc011cfq.2_Splice_Site_p.M1195_splice|SEC24B_uc011cfr.2_Splice_Site_p.M1160_splice	p.M1226_splice	NM_006323	NP_006314	WXS	Illumina GAIIx	Phase_I	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	23	3733	+		Hepatocellular(203;0.217)	1196					B7ZKM8|B7ZKN4|Q0VG08	Splice_Site	SNP	ENST00000265175.5	37	c.3678_splice	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397104	0.83120	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2322	0.82352	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24B	110674292	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.318000	0.79029	2.288000	0.76882	0.528000	0.53228	.		0.284	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		Intron	27	188	0	0	0	1	0	27	188					A	110454843	T	A	110454843	5	1	2	1	0	0	0	0	0	0	1	0	13995	1681	58	5	3676	5	SEC24B	4	110454843	Splice_Site	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	32793091	110454843	80699433	11	49											
MAP3K1	4214	broad.mit.edu	37	5	56181836	56181836	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:56181836C>G	ENST00000399503.3	+	17	4060	c.4060C>G	c.(4060-4062)Ctc>Gtc	p.L1354V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAACAGTTACTCCGTGGCCT	0.338																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(4060-4062)Ctc>Gtc		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							97	90	92					5																	56181836		1838	4086	5924	SO:0001583	missense	4214				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181836C>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4060C>G	5.37:g.56181836C>G	ENSP00000382423:p.Leu1354Val		Somatic					p.L1354V	NM_005921	NP_005912	WXS	Illumina GAIIx	Phase_I	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	16	4561	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1354			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4060C>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826812	0.71143	.	.	ENSG00000095015	ENST00000399503	T	0.27890	1.64	5.51	5.51	0.81932	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	0.64402	D	0.000003	T	0.47192	0.1432	M	0.68593	2.085	0.54753	D	0.999983	P	0.46952	0.887	P	0.54706	0.759	T	0.45205	-0.9277	10	0.72032	D	0.01	.	13.1533	0.59503	0.0:0.9171:0.0:0.0829	.	1354	Q13233	M3K1_HUMAN	V	1354	ENSP00000382423:L1354V	ENSP00000382423:L1354V	L	+	1	0	MAP3K1	56217593	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.802000	0.55553	2.591000	0.87537	0.655000	0.94253	CTC		0.338	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		3	139	0	0	0	1	0	3	139					G	56181836	C	G	56181836	3	3	2	1	0	0	0	0	1	0	0	0	9243	565	20	4	4126	4	MAP3K1	5	56181836	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		56181836	124733424	12	50											
BDP1	55814	broad.mit.edu	37	5	70805633	70805633	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:70805633T>C	ENST00000358731.4	+	17	2977	c.2714T>C	c.(2713-2715)aTg>aCg	p.M905T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	905	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGAAAGCAATGGGAAGAGAG	0.418																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2713-2715)aTg>aCg		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							70	68	69					5																	70805633		1867	4097	5964	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805633T>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2714T>C	5.37:g.70805633T>C	ENSP00000351575:p.Met905Thr		Somatic				BDP1_uc003kbn.1_Missense_Mutation_p.M905T|BDP1_uc003kbo.3_Missense_Mutation_p.M905T	p.M905T	NM_018429	NP_060899	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	16	2977	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	905			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.2714T>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.128732	0.00342	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10005	2.92	3.97	-5.57	0.02521	.	1.146510	0.06665	N	0.765092	T	0.01558	0.0050	N	0.00128	-2.045	0.09310	N	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39840	-0.9594	10	0.13853	T	0.58	.	2.9655	0.05907	0.1041:0.3667:0.3123:0.2168	.	905;905;905	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	T	905;485	ENSP00000351575:M905T	ENSP00000351575:M905T	M	+	2	0	BDP1	70841389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.599000	0.05700	-1.822000	0.01211	-3.626000	0.00027	ATG		0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		32	86	0	0	0	1	0	32	86					C	70805633	T	C	70805633	3	2	2	1	0	0	0	0	1	0	0	0	1395	1464	51	3	2780	3	BDP1	5	70805633	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	14623797	70805633	110109627	13	51											
PCDHB1	29930	broad.mit.edu	37	5	140433491	140433491	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:140433491G>T	ENST00000306549.3	+	1	2513	c.2436G>T	c.(2434-2436)caG>caT	p.Q812H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	812					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATGACCAGGTATCTGATG	0.418																																						uc003lik.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(2434-2436)caG>caT		Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.							51	56	55					5																	140433491		2200	4299	6499	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433491G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2436G>T	5.37:g.140433491G>T	ENSP00000307234:p.Gln812His		Somatic					p.Q812H	NM_013340	NP_037472	WXS	Illumina GAIIx	Phase_I	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2513	+			812					Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2436G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726714	0.30593	.	.	ENSG00000171815	ENST00000306549	T	0.49432	0.78	5.75	3.55	0.40652	.	0.631179	0.13057	N	0.417229	T	0.27419	0.0673	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.31751	0.135	T	0.17048	-1.0382	10	0.54805	T	0.06	.	5.8316	0.18584	0.5276:0.0:0.4724:0.0	.	812	Q9Y5F3	PCDB1_HUMAN	H	812	ENSP00000307234:Q812H	ENSP00000307234:Q812H	Q	+	3	2	PCDHB1	140413675	0.002000	0.14202	0.065000	0.19835	0.858000	0.48976	1.140000	0.31516	1.265000	0.44215	0.650000	0.86243	CAG		0.418	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		31	139	0	0	0	1	0	31	139					T	140433491	G	T	140433491	3	4	2	1	0	0	0	0	1	0	0	0	11534	991	35	4	2438	4	PCDHB1	5	140433491	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	69627858	140433491	40481769	14	52											
GEMIN5	25929	broad.mit.edu	37	5	154280951	154280951	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:154280951T>A	ENST00000285873.7	-	21	3037	c.2962A>T	c.(2962-2964)Atc>Ttc	p.I988F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	988					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTTTGTGGATGGAAAGTAGG	0.453																																						uc003lvx.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2962-2964)Atc>Ttc		Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.							119	117	118					5																	154280951		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154280951T>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2962A>T	5.37:g.154280951T>A	ENSP00000285873:p.Ile988Phe		Somatic				GEMIN5_uc011ddk.1_Missense_Mutation_p.I987F	p.I988F	NM_015465	NP_056280	WXS	Illumina GAIIx	Phase_I	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		20	3045	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	988					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.2962A>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801507	0.90538	.	.	ENSG00000082516	ENST00000285873	T	0.73681	-0.77	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.75264	2.295	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.54100	0.742;0.742	D	0.83833	0.0253	10	0.72032	D	0.01	-17.8524	12.8468	0.57833	0.0:0.0:0.1359:0.8641	.	987;988	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	F	988	ENSP00000285873:I988F	ENSP00000285873:I988F	I	-	1	0	GEMIN5	154261144	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.725000	0.54970	2.258000	0.74832	0.533000	0.62120	ATC		0.453	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			85	103	0	0	0	1	0	85	103					A	154280951	T	A	154280951	3	1	2	1	0	0	0	0	1	0	0	0	6331	1464	51	5	1596	5	GEMIN5	5	154280951	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13847460	154280951	26634309	15	53											
TBC1D9B	23061	broad.mit.edu	37	5	179302050	179302050	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:179302050G>A	ENST00000356834.3	-	12	2075	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P680S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	680	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGAAGGGCATGACGCTG	0.602																																						uc003mlh.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2038-2040)Ccc>Tcc		Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.							101	92	95					5																	179302050		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding	g.chr5:179302050G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2038C>T	5.37:g.179302050G>A	ENSP00000349291:p.Pro680Ser		Somatic				TBC1D9B_uc003mli.3_Missense_Mutation_p.P680S|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P680S|TBC1D9B_uc011dgv.2_5'Flank	p.P680S	NM_198868	NP_942568	WXS	Illumina GAIIx	Phase_I	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	2073	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	680			Rab-GAP TBC.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2038C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629998	0.87660	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.28255	1.62;1.62	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.070373	0.64402	D	0.000016	T	0.54287	0.1849	L	0.60957	1.885	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	T	0.54207	-0.8328	10	0.56958	D	0.05	-31.5261	18.9378	0.92592	0.0:0.0:1.0:0.0	.	680;680;680	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	S	680	ENSP00000349291:P680S;ENSP00000347375:P680S	ENSP00000347375:P680S	P	-	1	0	TBC1D9B	179234656	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.771000	0.98977	2.469000	0.83416	0.491000	0.48974	CCC		0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		4	130	0	0	0	1	0	4	130					A	179302050	G	A	179302050	3	1	2	1	0	0	0	0	1	0	0	0	15625	1203	42	2	1758	2	TBC1D9B	5	179302050	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08	25021099	179302050	1613210	16	54											
C7orf30	115416	broad.mit.edu	37	7	23349054	23349054	+	Silent	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr7:23349054T>C	ENST00000466681.1	+	4	750	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	199					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											TACGTTCTTATGATGACCAGT	0.403																																						uc003swd.1																			0											c.(595-597)taT>taC		Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA.							140	131	134					7																	23349054		2203	4300	6503	SO:0001819	synonymous_variant	115416					mitochondrion		g.chr7:23349054T>C	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"chromosome 7 open reading frame 30"	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.597T>C	7.37:g.23349054T>C			Somatic				MALSU1_uc003swe.3_Non-coding_Transcript	p.Y199Y	NM_138446	NP_612455	WXS	Illumina GAIIx	Phase_I	Q96EH3	CG030_HUMAN			3	629	+			199					A4D154	Silent	SNP	ENST00000466681.1	37	c.597T>C	CCDS5381.1																																																																																				0.403	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		12	154	0	0	0	1	0	12	154					C	23349054	T	C	23349054	2	2	2	1	0	0	0	0	0	0	0	1	2386	1471	51	3		3	C7orf30	7	23349054	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08		23349054	135789609	17	55											
PRKDC	5591	broad.mit.edu	37	8	48749054	48749054	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:48749054C>T	ENST00000314191.2	-	59	7849	c.7793G>A	c.(7792-7794)aGt>aAt	p.S2598N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S2598N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2599	KIP-binding.		R -> Q (in dbSNP:rs55923149). {ECO:0000269|PubMed:17344846}.		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)	GAGAACAGTACTTCGGAAACG	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				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						c.(7792-7794)aGt>aAt	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							34	36	35					8																	48749054		1952	4145	6097	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48749054C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7793G>A	8.37:g.48749054C>T	ENSP00000313420:p.Ser2598Asn		Somatic				PRKDC_uc003xqj.3_Missense_Mutation_p.S2598N	p.S2598N	NM_006904	NP_008835	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			58	7850	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2599		R -> Q (in dbSNP:rs55923149).	KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7793G>A		.	.	.	.	.	.	.	.	.	.	C	19.01	3.743836	0.69418	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02140	4.51;4.43	5.67	5.67	0.87782	.	0.049104	0.85682	D	0.000000	T	0.07999	0.0200	L	0.46614	1.455	0.58432	D	0.999996	D;D	0.71674	0.972;0.998	P;P	0.62649	0.786;0.905	T	0.51601	-0.8685	10	0.20046	T	0.44	.	18.745	0.91789	0.0:1.0:0.0:0.0	.	2598;2599	E7EUY0;P78527	.;PRKDC_HUMAN	N	2598	ENSP00000313420:S2598N;ENSP00000345182:S2598N	ENSP00000313420:S2598N	S	-	2	0	PRKDC	48911607	1.000000	0.71417	0.992000	0.48379	0.426000	0.31534	3.604000	0.54081	2.671000	0.90904	0.585000	0.79938	AGT		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	26	0	0	0	1	0	3	26					T	48749054	C	T	48749054	3	4	2	1	0	0	0	0	1	0	0	0	12521	565	20	2	4706	2	PRKDC	8	48749054	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		48749054	97614968	18	56											
ENPP2	5168	broad.mit.edu	37	8	120575209	120575209	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:120575209C>T	ENST00000075322.6	-	24	2367	c.2309G>A	c.(2308-2310)aGc>aAc	p.S770N	ENPP2_ENST00000427067.2_Missense_Mutation_p.S791N|ENPP2_ENST00000259486.6_Missense_Mutation_p.S822N|ENPP2_ENST00000522167.1_Missense_Mutation_p.S405N|ENPP2_ENST00000522826.1_Missense_Mutation_p.S795N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	770					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTGATGATGCTGTAGTAGTG	0.507																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2464-2466)aGc>aAc		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							141	118	126					8																	120575209		2203	4300	6503	SO:0001583	missense	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575209C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2309G>A	8.37:g.120575209C>T	ENSP00000075322:p.Ser770Asn		Somatic				ENPP2_uc011lic.2_Missense_Mutation_p.S308N|ENPP2_uc003yor.2_Missense_Mutation_p.S405N|ENPP2_uc010mdd.2_Missense_Mutation_p.S795N|ENPP2_uc003yot.2_Missense_Mutation_p.S770N	p.S822N	NM_006209	NP_006200	WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	2551	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		770					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2465G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456081	0.63401	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.8	5.8	0.92144	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.460028	0.26895	N	0.021955	T	0.61311	0.2337	N	0.22421	0.69	0.29029	N	0.885805	P;P;B;B;P	0.38745	0.645;0.626;0.393;0.439;0.535	B;B;B;B;B	0.43838	0.433;0.403;0.223;0.195;0.223	T	0.64296	-0.6441	10	0.72032	D	0.01	.	16.532	0.84364	0.0:0.8609:0.139:0.0	.	308;795;770;822;405	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	N	822;791;405;795;770	ENSP00000259486:S822N;ENSP00000403315:S791N;ENSP00000429476:S405N;ENSP00000428291:S795N;ENSP00000075322:S770N	ENSP00000075322:S770N	S	-	2	0	ENPP2	120644390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.408000	0.52651	2.732000	0.93576	0.650000	0.86243	AGC		0.507	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			8	68	0	0	0	1	0	8	68					T	120575209	C	T	120575209	3	4	2	1	0	0	0	0	1	0	0	0	5130	797	28	2	290	2	ENPP2	8	120575209	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	71826155	120575209	25788813	19	57											
TG	7038	broad.mit.edu	37	8	133894135	133894135	+	Silent	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:133894135T>C	ENST00000220616.4	+	6	706	c.666T>C	c.(664-666)agT>agC	p.S222S	TG_ENST00000377869.1_Silent_p.S222S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	222	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		TGACCTTCAGTTCCTTCCAGA	0.483																																						uc003ytw.3																			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.(664-666)agT>agC		Homo sapiens thyroglobulin (TG), mRNA.							133	115	121					8																	133894135		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133894135T>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.666T>C	8.37:g.133894135T>C			Somatic					p.S222S	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	5	707	+	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)	222			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.666T>C	CCDS34944.1																																																																																				0.483	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		44	87	0	0	0	1	0	44	87					C	133894135	T	C	133894135	2	2	2	1	0	0	0	0	0	0	0	1	15810	1722	60	3		3	TG	8	133894135	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	13318926	133894135	12469887	20	58											
SLC27A4	10999	broad.mit.edu	37	9	131112771	131112771	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr9:131112771G>A	ENST00000300456.4	+	6	911	c.794G>A	c.(793-795)cGc>cAc	p.R265H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	265					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGGTATTACCGCATGGCTGCC	0.627																																					Pancreas(107;1554 2241 10946 12953)	uc004but.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(793-795)cGc>cAc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.							69	56	60					9																	131112771		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112771G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.794G>A	9.37:g.131112771G>A	ENSP00000300456:p.Arg265His		Somatic				SLC27A4_uc004buu.3_Intron	p.R265H	NM_005094	NP_005085	WXS	Illumina GAIIx	Phase_I	Q6P1M0	S27A4_HUMAN			5	1079	+			265					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.794G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863525	0.91511	.	.	ENSG00000167114	ENST00000300456	T	0.40756	1.02	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.56962	-0.7892	10	0.15952	T	0.53	-25.6073	17.6262	0.88095	0.0:0.0:1.0:0.0	.	265	Q6P1M0	S27A4_HUMAN	H	265	ENSP00000300456:R265H	ENSP00000300456:R265H	R	+	2	0	SLC27A4	130152592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.639000	0.89480	0.563000	0.77884	CGC		0.627	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			4	59	0	0	0	1	0	4	59					A	131112771	G	A	131112771	3	1	2	1	0	0	0	0	1	0	0	0	14528	1087	38	1	812	1	SLC27A4	9	131112771	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		131112771	10100660	21	59											
PTEN	5728	broad.mit.edu	37	10	89692932	89692932	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89692932T>A	ENST00000371953.3	+	5	1773	c.416T>A	c.(415-417)tTa>tAa	p.L139*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	139	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L139*(5)|p.L139fs*40(2)|p.Y27fs*1(2)|p.L139fs*7(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCATATTTATTACATCGG	0.383		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(12)|Substitution - Nonsense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.L139*(12)|p.?(5)|p.R55fs*1(5)|p.L139fs*40(4)|p.L139fs*7(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y138C(2)|p.Y138fs*9(1)|p.L139V(1)|p.I135fs*6(1)|p.L139F(1)|p.Y138*(1)|p.Y138D(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|skin(9)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD075527|CM033667|CM983502	PTEN	D|M		c.(415-417)tTa>tAa		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							106	102	103					10																	89692932		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692932T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.416T>A	10.37:g.89692932T>A	ENSP00000361021:p.Leu139*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_uc021pvw.1_Non-coding_Transcript	p.L139*	NM_000314	NP_000305	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1448	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	139			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.416T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	48	14.413217	0.99794	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9534	15.1019	0.72284	0.0:0.0:0.0:1.0	.	.	.	.	X	139	.	.	L	+	2	0	PTEN	89682912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TTA		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		20	66	0	0	0	1	0	20	66					A	89692932	T	A	89692932	4	1	2	1	0	0	0	0	0	1	0	0	12738	1764	61	5	434	5	PTEN	10	89692932	Nonsense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08		89692932	45841815	22	60											
PTEN	5728	broad.mit.edu	37	10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89711928delA	ENST00000371953.3	+	6	1903	c.546delA	c.(544-546)ttafs	p.L182fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	182	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		60	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)	prostate(16)|central_nervous_system(15)|skin(10)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|pancreas(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(544-546)ttafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							144	144	144					10																	89711928		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711928delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.546delA	10.37:g.89711928delA	ENSP00000361021:p.Leu182fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_uc021pvw.1_Non-coding_Transcript	p.L182fs	NM_000314	NP_000305	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1578	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	182			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.546delA	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		87	77						87	77	---	---	---	---	-	89711928	A	-	89711928	7	5	2	1	0	1	0	1	0	0	0	0	12738	359	13	0	568	0	PTEN	10	89711928	Frame_Shift_Del	DEL	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	18996	89711928	45822819	23	61											
TRIM34	53840	broad.mit.edu	37	11	5653565	5653565	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:5653565G>C	ENST00000514226.1	+	2	341	c.4G>C	c.(4-6)Gct>Cct	p.A2P	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.A356P|TRIM34_ENST00000429814.2_Missense_Mutation_p.A2P|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.A2P	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	2					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAATGGCTTCAAAAAT	0.517											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1066-1068)Gct>Cct		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.							122	109	113					11																	5653565		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5653565G>C	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.4G>C	11.37:g.5653565G>C	ENSP00000422947:p.Ala2Pro		Somatic	OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbh.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.A2P	p.A356P	NM_001003819	NP_067629	WXS	Illumina GAIIx	Phase_I	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	7	1329	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	356					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1066G>C	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570944	0.86542	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;D	0.84730	-0.71;-0.71;-0.71;-1.89	3.07	3.07	0.35406	.	1.201000	0.06473	N	0.731518	D	0.93746	0.8001	M	0.89968	3.075	0.30447	N	0.775669	D;D;P	0.76494	0.999;0.992;0.799	D;D;B	0.78314	0.991;0.935;0.292	D	0.84976	0.0885	10	0.66056	D	0.02	.	12.3957	0.55382	0.0:0.0:1.0:0.0	.	2;2;356	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	P	356;2;2;2;356	ENSP00000422947:A2P;ENSP00000402595:A2P;ENSP00000395982:A2P;ENSP00000346916:A356P	ENSP00000402595:A2P	A	+	1	0	TRIM34;TRIM6-TRIM34	5610141	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.064000	0.41432	2.031000	0.59945	0.555000	0.69702	GCT		0.517	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		23	124	0	0	0	1	0	23	124					C	5653565	G	C	5653565	3	2	2	1	0	0	0	0	1	0	0	0	16505	1203	42	4	6	4	TRIM34	11	5653565	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		5653565	129352951	24	62											
FANCF	2188	broad.mit.edu	37	11	22646539	22646539	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:22646539A>C	ENST00000327470.3	-	1	848	c.818T>G	c.(817-819)gTc>gGc	p.V273G	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	273					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						ACCCAGATAGACAGGAGACAG	0.552			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mql.1			yes	Rec		Fanconi anaemia F	11	11p15	2188	"N, F"	"Fanconi anemia, complementation group F"			L		"AML, leukemia"			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(817-819)gTc>gGc	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.							54	61	58					11																	22646539		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646539A>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.818T>G	11.37:g.22646539A>C	ENSP00000330875:p.Val273Gly		Somatic	OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.V273G	NM_022725	NP_073562	WXS	Illumina GAIIx	Phase_I	Q9NPI8	FANCF_HUMAN			0	849	-			273					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.818T>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887916	0.33348	.	.	ENSG00000183161	ENST00000327470	T	0.35048	1.33	5.41	-3.69	0.04450	.	1.110220	0.07015	N	0.825849	T	0.27278	0.0669	L	0.40543	1.245	0.09310	N	0.999996	B	0.15141	0.012	B	0.14578	0.011	T	0.33675	-0.9859	10	0.33141	T	0.24	-4.4098	9.7752	0.40614	0.1675:0.2383:0.5942:0.0	.	273	Q9NPI8	FANCF_HUMAN	G	273	ENSP00000330875:V273G	ENSP00000330875:V273G	V	-	2	0	FANCF	22603115	0.170000	0.23016	0.010000	0.14722	0.194000	0.23727	0.044000	0.13992	-0.503000	0.06586	0.459000	0.35465	GTC		0.552	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		5	133	0	0	0	1	0	5	133					C	22646539	A	C	22646539	3	2	2	1	0	0	0	0	1	0	0	0	5667	275	10	5	310	5	FANCF	11	22646539	Missense_Mutation	SNP	A	TCGA-BJ-A0Z0-01A-11D-A10S-08	16992974	22646539	112359977	25	63											
AGBL1	123624	broad.mit.edu	37	15	86697783	86697783	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:86697783G>T	ENST00000441037.2	+	3	342	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S	AGBL1_ENST00000421325.2_Missense_Mutation_p.A83S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	83					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCGTGTGTTTGCCTCCAGTGG	0.522																																						uc002blz.1																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(247-249)Gcc>Tcc		Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.							97	98	98					15																	86697783		2025	4191	6216	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697783G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.247G>T	15.37:g.86697783G>T	ENSP00000413001:p.Ala83Ser		Somatic					p.A83S	NM_152336	NP_689549	WXS	Illumina GAIIx	Phase_I	Q96MI9	CBPC4_HUMAN			2	327	+			83					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.247G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	7.282	0.609293	0.14066	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.56444	0.46	5.41	4.49	0.54785	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.35913	0.0948	L	0.31578	0.945	0.80722	D	1	B	0.27882	0.192	B	0.25987	0.065	T	0.11518	-1.0584	9	0.07030	T	0.85	-9.5684	11.8983	0.52669	0.0:0.0:0.8258:0.1742	.	83	Q96MI9	CBPC4_HUMAN	S	112;83	ENSP00000397173:A83S	ENSP00000397173:A83S	A	+	1	0	AGBL1	84498787	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.168000	0.42424	1.393000	0.46605	0.655000	0.94253	GCC		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		6	42	0	0	0	1	0	6	42					T	86697783	G	T	86697783	3	4	2	1	0	0	0	0	1	0	0	0	375	1319	46	4	253	4	AGBL1	15	86697783	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		86697783	15833609	26	64											
FAM169B	283777	broad.mit.edu	37	15	98982901	98982901	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:98982901C>T	ENST00000558256.1	-	7	787	c.538G>A	c.(538-540)Gca>Aca	p.A180T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A180T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	180										large_intestine(3)|lung(3)|urinary_tract(1)	7						GGCTGCCCTGCCAGCCCGGCA	0.587																																						uc002buk.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(538-540)Gca>Aca		Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.							76	78	77					15																	98982901		1996	4164	6160	SO:0001583	missense	283777							g.chr15:98982901C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.538G>A	15.37:g.98982901C>T	ENSP00000453554:p.Ala180Thr		Somatic					p.A180T	NM_182562	NP_872368	WXS	Illumina GAIIx	Phase_I	Q8N8A8	F169B_HUMAN			6	788	-			180					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.538G>A	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102826	0.20632	.	.	ENSG00000185087	ENST00000332908	T	0.52983	0.64	2.93	0.956	0.19608	.	2.328530	0.01834	N	0.034908	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.16512	-1.0400	10	0.34782	T	0.22	.	5.1223	0.14867	0.2217:0.5173:0.261:0.0	.	180	Q8N8A8	F169B_HUMAN	T	180	ENSP00000332615:A180T	ENSP00000332615:A180T	A	-	1	0	FAM169B	96800424	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.473000	0.00988	0.286000	0.22352	0.650000	0.86243	GCA		0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		12	50	0	0	0	1	0	12	50					T	98982901	C	T	98982901	3	4	2	1	0	0	0	0	1	0	0	0	5488	739	26	2	44	2	FAM169B	15	98982901	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08	12285118	98982901	3548491	27	65											
SNTB2	6645	broad.mit.edu	37	16	69279566	69279566	+	Silent	SNP	G	G	A	rs143099113		TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr16:69279566G>A	ENST00000336278.4	+	2	680	c.642G>A	c.(640-642)ccG>ccA	p.P214P	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	214	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CAGATCTGCCGTGGGAAGGTG	0.448																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	uc002ewu.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13						c.(640-642)ccG>ccA		Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.		G		0,4396		0,0,2198	203	195	197		642	-3.8	1.0	16	dbSNP_134	197	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SNTB2	NM_006750.3		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		214/541	69279566	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	6645					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	g.chr16:69279566G>A	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.642G>A	16.37:g.69279566G>A			Somatic				SNTB2_uc021tkg.1_Non-coding_Transcript	p.P214P	NM_006750	NP_006741	WXS	Illumina GAIIx	Phase_I	Q13425	SNTB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.208)	1	662	+		Ovarian(137;0.101)	214			PH 1.		Q9BY09	Silent	SNP	ENST00000336278.4	37	c.642G>A	CCDS10873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.537|9.537	1.112328|1.112328	0.20795|0.20795	0.0|0.0	2.33E-4|2.33E-4	ENSG00000168807|ENSG00000168807	ENST00000525632;ENST00000528525|ENST00000360496;ENST00000534235	.|.	.|.	.|.	5.75|5.75	-3.75|-3.75	0.04372|0.04372	.|.	.|.	.|.	.|.	.|.	T|T	0.40297|0.40297	0.1111|0.1111	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35798|0.35798	-0.9774|-0.9774	4|4	.|.	.|.	.|.	-0.4595|-0.4595	3.6992|3.6992	0.08376|0.08376	0.3021:0.3962:0.2169:0.0848|0.3021:0.3962:0.2169:0.0848	.|.	.|.	.|.	.|.	H|M	83;56|71;51	.|.	.|.	R|V	+|+	2|1	0|0	SNTB2|SNTB2	67837067|67837067	0.006000|0.006000	0.16342|0.16342	0.991000|0.991000	0.47740|0.47740	0.986000|0.986000	0.74619|0.74619	-0.970000|-0.970000	0.03810|0.03810	-0.448000|-0.448000	0.07128|0.07128	-0.378000|-0.378000	0.06908|0.06908	CGT|GTG		0.448	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1			107	263	0	0	0	1	0	107	263					A	69279566	G	A	69279566	2	1	2	1	0	0	0	0	0	0	0	1	14873	1132	40	1		1	SNTB2	16	69279566	Silent	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		69279566	21075187	28	66											
TCEB3B	51224	broad.mit.edu	37	18	44560437	44560437	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr18:44560437C>T	ENST00000332567.4	-	1	1551	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	400					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGATTTTCCAGTCTTTTT	0.478																																						uc002lcr.1																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1198-1200)gGa>gAa		Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.							114	102	106					18																	44560437		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560437C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1199G>A	18.37:g.44560437C>T	ENSP00000331302:p.Gly400Glu		Somatic				KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	p.G400E	NM_016427	NP_057511	WXS	Illumina GAIIx	Phase_I	Q8IYF1	ELOA2_HUMAN			0	1552	-			400					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1199G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.634	0.485375	0.12641	.	.	ENSG00000206181	ENST00000332567	T	0.06068	3.35	2.19	-0.409	0.12378	.	0.983616	0.08203	U	0.981964	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.39250	0.665	B	0.29598	0.104	T	0.46498	-0.9187	10	0.22706	T	0.39	.	6.8852	0.24195	0.4157:0.5843:0.0:0.0	.	400	Q8IYF1	ELOA2_HUMAN	E	400	ENSP00000331302:G400E	ENSP00000331302:G400E	G	-	2	0	TCEB3B	42814435	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.194000	0.09559	-0.070000	0.12908	-0.388000	0.06559	GGA		0.478	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		50	164	0	0	0	1	0	50	164					T	44560437	C	T	44560437	3	4	2	1	0	0	0	0	1	0	0	0	15679	855	30	2	1066	2	TCEB3B	18	44560437	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		44560437	33516811	29	67											
ZNF565	147929	broad.mit.edu	37	19	36674128	36674128	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:36674128C>G	ENST00000355114.5	-	5	1586	c.860G>C	c.(859-861)gGt>gCt	p.G287A	ZNF565_ENST00000304116.5_Missense_Mutation_p.G247A|ZNF565_ENST00000392173.2_Missense_Mutation_p.G247A			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	287					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGTTTGACACCAGTATGAAG	0.438																																						uc002odn.3																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(739-741)gGt>gCt		Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.							82	76	78					19																	36674128		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36674128C>G	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.860G>C	19.37:g.36674128C>G	ENSP00000347234:p.Gly287Ala		Somatic				ZNF565_uc010ees.3_Missense_Mutation_p.G182A|ZNF565_uc002odo.3_Missense_Mutation_p.G247A	p.G247A	NM_152477	NP_689690	WXS	Illumina GAIIx	Phase_I	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		4	848	-	Esophageal squamous(110;0.162)		247					B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.740G>C		.	.	.	.	.	.	.	.	.	.	c	15.78	2.935423	0.52866	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.26373	1.74;1.74;1.74	4.36	4.36	0.52297	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001003	T	0.41743	0.1172	M	0.71581	2.175	0.40656	D	0.982089	D	0.57899	0.981	P	0.53102	0.718	T	0.48490	-0.9031	10	0.87932	D	0	.	14.8205	0.70068	0.0:1.0:0.0:0.0	.	247	Q8N9K5	ZN565_HUMAN	A	247;247;287	ENSP00000376013:G247A;ENSP00000306869:G247A;ENSP00000347234:G287A	ENSP00000306869:G247A	G	-	2	0	ZNF565	41365968	0.711000	0.27906	1.000000	0.80357	0.064000	0.16182	3.246000	0.51414	2.437000	0.82529	0.585000	0.79938	GGT		0.438	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		10	111	0	0	0	1	0	10	111					G	36674128	C	G	36674128	3	3	2	1	0	0	0	0	1	0	0	0	17993	507	18	4	763	4	ZNF565	19	36674128	Missense_Mutation	SNP	C	TCGA-BJ-A0Z0-01A-11D-A10S-08		36674128	22454855	30	68											
FCGBP	8857	broad.mit.edu	37	19	40366101	40366101	+	Silent	SNP	T	T	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:40366101T>C	ENST00000221347.6	-	30	14140	c.14133A>G	c.(14131-14133)gcA>gcG	p.A4711A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4711						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTAGCCACTGCAGGACAGA	0.672																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14131-14133)gcA>gcG		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							34	42	39					19																	40366101		2201	4297	6498	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40366101T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14133A>G	19.37:g.40366101T>C			Somatic					p.A4711A	NM_003890	NP_003881	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	14141	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4711					O95784	Silent	SNP	ENST00000221347.6	37	c.14133A>G	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		22	33	0	0	0	1	0	22	33					C	40366101	T	C	40366101	2	2	2	1	0	0	0	0	0	0	0	1	5778	1567	55	3		3	FCGBP	19	40366101	Silent	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	3691973	40366101	18762882	31	69											
PPP2R1A	5518	broad.mit.edu	37	19	52719096	52719096	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:52719096T>A	ENST00000322088.6	+	7	930	c.872T>A	c.(871-873)aTg>aAg	p.M291K	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.M236K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.M112K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	291	PP2A subunit B binding.|Polyoma small and medium T antigens 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)		cagaacCTGATGAAAGACTGT	0.612			Mis		clear cell ovarian carcinoma																																	uc002pyp.3				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		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.(871-873)aTg>aAg		Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.							67	63	65					19																	52719096		2203	4300	6503	SO:0001583	missense	5518				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|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 DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|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.chr19:52719096T>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.872T>A	19.37:g.52719096T>A	ENSP00000324804:p.Met291Lys		Somatic				PPP2R1A_uc010ydk.2_Missense_Mutation_p.M236K|PPP2R1A_uc010epm.1_Missense_Mutation_p.M331K|PPP2R1A_uc002pyq.3_Missense_Mutation_p.M112K	p.M291K	NM_014225	NP_055040	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	1167	+			291			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.872T>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589151	0.86851	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	L	0.39898	1.24	0.51012	D	0.9999	D;P;P	0.54047	0.964;0.879;0.879	P;B;B	0.45474	0.482;0.329;0.329	T	0.05500	-1.0881	10	0.87932	D	0	-35.5917	12.4296	0.55567	0.0:0.0:0.0:1.0	.	236;291;291	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	K	281;211;291;236	ENSP00000324804:M291K;ENSP00000415067:M236K	ENSP00000324804:M291K	M	+	2	0	PPP2R1A	57410908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.085000	0.76875	2.099000	0.63709	0.533000	0.62120	ATG		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		4	137	0	0	0	1	0	4	137					A	52719096	T	A	52719096	3	1	2	1	0	0	0	0	1	0	0	0	12382	1464	51	5	898	5	PPP2R1A	19	52719096	Missense_Mutation	SNP	T	TCGA-BJ-A0Z0-01A-11D-A10S-08	12352995	52719096	6409887	32	70											
NCAPH2	29781	broad.mit.edu	37	22	50961303	50961303	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr22:50961303G>T	ENST00000420993.2	+	18	1601	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	NCAPH2_ENST00000299821.11_Missense_Mutation_p.Q494H|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.Q493H	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	493					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGCTGAGCCAGCGCATCAGGG	0.647																																						uc003blx.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(1480-1482)caG>caT		Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.							38	37	37					22																	50961303		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50961303G>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1479G>T	22.37:g.50961303G>T	ENSP00000410088:p.Gln493His		Somatic				NCAPH2_uc003blv.3_Missense_Mutation_p.Q493H|NCAPH2_uc003blr.4_Missense_Mutation_p.Q493H	p.Q494H	NM_001185011	NP_001171940	WXS	Illumina GAIIx	Phase_I	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	17	1604	+		all_cancers(38;4.58e-14)|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)	493					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1482G>T	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.568564|3.568564	0.65651|0.65651	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821|ENST00000522304	.|.	.|.	.|.	5.24|5.24	3.1|3.1	0.35709|0.35709	.|.	0.381600|.	0.27198|.	N|.	0.020480|.	T|T	0.56572|0.56572	0.1994|0.1994	M|M	0.73598|0.73598	2.24|2.24	0.26950|0.26950	N|N	0.96605|0.96605	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.997;0.997;0.998|.	T|T	0.49312|0.49312	-0.8953|-0.8953	9|5	0.52906|.	T|.	0.07|.	-20.0179|-20.0179	10.8482|10.8482	0.46754|0.46754	0.1577:0.0:0.8423:0.0|0.1577:0.0:0.8423:0.0	.|.	494;471;493|.	Q6IBW4-4;Q6IBW4-2;Q6IBW4|.	.;.;CNDH2_HUMAN|.	H|I	493;493;494|50	.|.	ENSP00000299821:Q494H|.	Q|S	+|+	3|2	2|0	NCAPH2|NCAPH2	49308169|49308169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.803000|0.803000	0.27083|0.27083	0.576000|0.576000	0.29452|0.29452	0.650000|0.650000	0.86243|0.86243	CAG|AGC		0.647	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		5	59	0	0	0	1	0	5	59					T	50961303	G	T	50961303	3	4	2	1	0	0	0	0	1	0	0	0	10210	962	34	4	1591	4	NCAPH2	22	50961303	Missense_Mutation	SNP	G	TCGA-BJ-A0Z0-01A-11D-A10S-08		50961303	343263	33	71											
UBR4	23352	broad.mit.edu	37	1	19420477	19420477	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:19420477C>A	ENST00000375254.3	-	95	13930	c.13903G>T	c.(13903-13905)Gtg>Ttg	p.V4635L	UBR4_ENST00000375226.2_Missense_Mutation_p.V4611L|UBR4_ENST00000375224.1_Missense_Mutation_p.V342L|UBR4_ENST00000375267.2_Missense_Mutation_p.V4635L|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000429347.2_Missense_Mutation_p.V158L|UBR4_ENST00000543981.1_Missense_Mutation_p.V299L|UBR4_ENST00000375217.2_Missense_Mutation_p.V4628L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4635					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)		AATCGCTCCACCAAGATCTGC	0.463																																						uc001bbi.3																			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.(13903-13905)Gtg>Ttg		Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.							92	84	87					1																	19420477		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.chr1:19420477C>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13903G>T	1.37:g.19420477C>A	ENSP00000364403:p.Val4635Leu		Somatic				UBR4_uc010ocv.2_Missense_Mutation_p.V158L|UBR4_uc009vph.3_Missense_Mutation_p.V269L|UBR4_uc010ocw.2_Missense_Mutation_p.V299L|UBR4_uc001bbg.3_Missense_Mutation_p.V346L|UBR4_uc001bbh.3_Missense_Mutation_p.V344L	p.V4635L	NM_020765	NP_065816	WXS	Illumina GAIIx	Phase_I	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)	94	13907	-		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)	4635					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.13903G>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092940	0.76756	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;1.18;1.18;1.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.64170	1.965	0.80722	D	1	P;P;P;P	0.49185	0.92;0.92;0.92;0.902	D;D;D;P	0.68192	0.935;0.935;0.956;0.893	T	0.76995	-0.2752	10	0.56958	D	0.05	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	299;158;4635;4611	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	4635;4635;4628;4611;342;158;299	ENSP00000364403:V4635L;ENSP00000364416:V4635L;ENSP00000364365:V4628L;ENSP00000364374:V4611L;ENSP00000364372:V342L;ENSP00000394173:V158L;ENSP00000444070:V299L	ENSP00000364365:V4628L	V	-	1	0	UBR4	19293064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.267000	0.78462	2.785000	0.95823	0.591000	0.81541	GTG		0.463	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		17	26	0	0	0	1	0	17	26					A	19420477	C	A	19420477	3	1	3	1	0	0	0	0	1	0	0	0	16901	507	18	4	1696	4	UBR4	1	19420477	Missense_Mutation	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		19420477	229830144	1	72											
NLRP3	114548	broad.mit.edu	37	1	247586597	247586597	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr1:247586597T>C	ENST00000336119.3	+	2	1095	c.349T>C	c.(349-351)Tgg>Cgg	p.W117R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.W117R|NLRP3_ENST00000366496.2_Missense_Mutation_p.W117R|NLRP3_ENST00000348069.2_Missense_Mutation_p.W117R|NLRP3_ENST00000391828.3_Missense_Mutation_p.W117R|NLRP3_ENST00000391827.2_Missense_Mutation_p.W117R	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	117					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)			TGAAGAGGAGTGGATGGGTTT	0.423																																						uc001icr.3																			0		p.W117L(1)		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.(349-351)Tgg>Cgg		Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.							206	204	205					1																	247586597		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.chr1:247586597T>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.349T>C	1.37:g.247586597T>C	ENSP00000337383:p.Trp117Arg		Somatic				NLRP3_uc001ics.3_Missense_Mutation_p.W117R|NLRP3_uc001icu.3_Missense_Mutation_p.W117R|NLRP3_uc001icw.3_Missense_Mutation_p.W117R|NLRP3_uc001icv.3_Missense_Mutation_p.W117R|NLRP3_uc010pyw.2_Missense_Mutation_p.W115R|NLRP3_uc001ict.1_Missense_Mutation_p.W115R	p.W117R	NM_001079821	NP_001230062	WXS	Illumina GAIIx	Phase_I	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	487	+	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)	117					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.349T>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	1.794	-0.478754	0.04414	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.73363	-0.65;-0.67;-0.65;-0.74;-0.67;-0.7	4.1	1.73	0.24493	.	0.165674	0.29486	N	0.012013	T	0.58524	0.2128	L	0.47716	1.5	0.30783	N	0.741742	B;B;B;B;B	0.15141	0.0;0.0;0.001;0.012;0.003	B;B;B;B;B	0.12156	0.0;0.0;0.007;0.007;0.001	T	0.44574	-0.9319	10	0.15952	T	0.53	.	3.5439	0.07821	0.1937:0.106:0.0:0.7003	.	117;117;117;117;117	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	R	117	ENSP00000375704:W117R;ENSP00000355453:W117R;ENSP00000337383:W117R;ENSP00000294752:W117R;ENSP00000355452:W117R;ENSP00000375703:W117R	ENSP00000337383:W117R	W	+	1	0	NLRP3	245653220	1.000000	0.71417	0.967000	0.41034	0.093000	0.18481	1.255000	0.32909	0.362000	0.24319	-0.250000	0.11733	TGG		0.423	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		94	108	0	0	0	1	0	94	108					C	247586597	T	C	247586597	3	2	3	1	0	0	0	0	1	0	0	0	10478	1696	59	3	355	3	NLRP3	1	247586597	Missense_Mutation	SNP	T	TCGA-BJ-A0Z2-01A-11D-A10S-08	228166120	247586597	1664024	2	73											
SNRNP27	11017	broad.mit.edu	37	2	70121125	70121125	+	Silent	SNP	C	C	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr2:70121125C>T	ENST00000244227.3	+	1	434	c.9C>T	c.(7-9)cgC>cgT	p.R3R	SNRNP27_ENST00000409116.1_Silent_p.R3R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	3	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGGGTCGCAGTCGCAGCC	0.542																																						uc002sfw.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(7-9)cgC>cgT		Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA.							49	53	52					2																	70121125		2203	4300	6503	SO:0001819	synonymous_variant	11017				RNA splicing|mRNA processing	nucleus	nucleic acid binding	g.chr2:70121125C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.9C>T	2.37:g.70121125C>T			Somatic				SNRNP27_uc002sfv.3_Non-coding_Transcript	p.R3R	NM_006857	NP_006848	WXS	Illumina GAIIx	Phase_I	Q8WVK2	SNR27_HUMAN			0	51	+			3			Arg-rich.		Q15410	Silent	SNP	ENST00000244227.3	37	c.9C>T	CCDS33219.1																																																																																				0.542	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		35	35	0	0	0	1	0	35	35					T	70121125	C	T	70121125	2	4	3	1	0	0	0	0	0	0	0	1	14854	697	25	2		2	SNRNP27	2	70121125	Silent	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		70121125	173078248	3	74											
CACNA2D1	781	broad.mit.edu	37	7	81594935	81594936	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:81594935_81594936GC>TT	ENST00000356253.5	-	32	2839_2840	c.2584_2585GC>AA	c.(2584-2586)GCa>AAa	p.A862K	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.A62K|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A850K			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	862					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)			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)	ATCATGATTTGCCATCAGAAGA	0.366																																						uc003uhr.1																			0		p.M849I(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.(2548-2550)gca>AAa		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81594935_81594936GC>TT	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2584_2585delinsTT	7.37:g.81594935_81594936delinsTT	ENSP00000348589:p.Ala862Lys		Somatic				CACNA2D1_uc011kgy.1_Missense_Mutation_p.A62K	p.A850K	NM_000722	NP_000713	WXS	Illumina GAIIx	Phase_I	P54289	CA2D1_HUMAN			31	2804_2805	-			862					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	DNP	ENST00000356253.5	37	c.2548_2549GC>AA																																																																																					0.366	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				46	80	0	0	0	1	0	46	80					TT	81594936	GC	TT	81594935	3	4	3	1	0	0	0	0	1	0	0	0	2548	1319	46	4	758	4	CACNA2D1	7	81594935	Missense_Mutation	DNP	GC	TCGA-BJ-A0Z2-01A-11D-A10S-08		81594935	77543728	4	75											
IRF5	3663	broad.mit.edu	37	7	128588864	128588864	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:128588864A>T	ENST00000402030.2	+	9	1561	c.1489A>T	c.(1489-1491)Atg>Ttg	p.M497L	IRF5_ENST00000249375.4_Missense_Mutation_p.M497L|IRF5_ENST00000357234.5_Missense_Mutation_p.M513L|IRF5_ENST00000477535.1_Missense_Mutation_p.M411L|IRF5_ENST00000473745.1_Missense_Mutation_p.M497L	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	497					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCAGCTGGCATGCAATAACA	0.657																																						uc003vog.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1537-1539)Atg>Ttg		Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 5, mRNA.							36	39	38					7																	128588864		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588864A>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1489A>T	7.37:g.128588864A>T	ENSP00000385352:p.Met497Leu		Somatic				IRF5_uc003voh.3_Missense_Mutation_p.M497L|IRF5_uc010llt.3_Missense_Mutation_p.M411L|IRF5_uc003voi.3_Missense_Mutation_p.M497L|IRF5_uc003voj.4_Missense_Mutation_p.M497L	p.M513L	NM_001098629	NP_001092099	WXS	Illumina GAIIx	Phase_I	Q13568	IRF5_HUMAN			8	1658	+			497					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1537A>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090064	0.36855	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97138	-4.26;-4.23;-4.25;-4.25;-4.25	5.73	5.73	0.89815	.	0.963128	0.08515	N	0.934286	D	0.95965	0.8686	L	0.54323	1.7	0.36884	D	0.889568	B;B;B	0.26744	0.068;0.158;0.092	B;B;B	0.26202	0.031;0.046;0.067	D	0.91994	0.5605	10	0.87932	D	0	-20.7332	13.9759	0.64273	1.0:0.0:0.0:0.0	.	411;497;513	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	L	513;411;497;497;497;487	ENSP00000349770:M513L;ENSP00000419950:M411L;ENSP00000385352:M497L;ENSP00000249375:M497L;ENSP00000419149:M497L	ENSP00000249375:M497L	M	+	1	0	IRF5	128376100	1.000000	0.71417	0.999000	0.59377	0.034000	0.12701	3.282000	0.51693	2.179000	0.69175	0.533000	0.62120	ATG		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		44	46	0	0	0	1	0	44	46					T	128588864	A	T	128588864	3	4	3	1	0	0	0	0	1	0	0	0	7833	217	8	5	1567	5	IRF5	7	128588864	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	46993929	128588864	30549799	5	76											
WEE2	494551	broad.mit.edu	37	7	141420816	141420816	+	Silent	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr7:141420816A>T	ENST00000397541.2	+	5	1246	c.840A>T	c.(838-840)gcA>gcT	p.A280A	WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTCATGGGCAGAAGATGACC	0.413																																						uc003vwn.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(838-840)gcA>gcT		Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.							138	127	130					7																	141420816		1894	4120	6014	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420816A>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.840A>T	7.37:g.141420816A>T			Somatic				FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.A280A	NM_001105558	NP_001099028	WXS	Illumina GAIIx	Phase_I	P0C1S8	WEE2_HUMAN			4	1246	+	Melanoma(164;0.0171)		280			Protein kinase.			Silent	SNP	ENST00000397541.2	37	c.840A>T	CCDS43660.1																																																																																				0.413	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		93	86	0	0	0	1	0	93	86					T	141420816	A	T	141420816	2	4	3	1	0	0	0	0	0	0	0	1	17342	175	7	5		5	WEE2	7	141420816	Silent	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	12831952	141420816	17717847	6	77											
PTK2B	2185	broad.mit.edu	37	8	27294958	27294958	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr8:27294958G>A	ENST00000397501.1	+	22	2280	c.1472G>A	c.(1471-1473)gGc>gAc	p.G491D	PTK2B_ENST00000420218.2_Missense_Mutation_p.G491D|PTK2B_ENST00000517339.1_Missense_Mutation_p.G491D|PTK2B_ENST00000338238.4_Missense_Mutation_p.G491D|PTK2B_ENST00000544172.1_Missense_Mutation_p.G491D|PTK2B_ENST00000346049.5_Missense_Mutation_p.G491D|PTK2B_ENST00000397497.4_Missense_Mutation_p.G237D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AAGCTGATCGGCATCATTGAA	0.567																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1471-1473)gGc>gAc		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.							108	86	93					8																	27294958		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27294958G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1472G>A	8.37:g.27294958G>A	ENSP00000380638:p.Gly491Asp		Somatic				PTK2B_uc022ate.1_Missense_Mutation_p.G491D|PTK2B_uc003xfp.2_Missense_Mutation_p.G491D|PTK2B_uc003xfq.2_Missense_Mutation_p.G491D|PTK2B_uc003xfr.1_Missense_Mutation_p.G237D	p.G491D	NM_173174	NP_775268	WXS	Illumina GAIIx	Phase_I	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	21	2280	+		Ovarian(32;2.72e-05)	491			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1472G>A	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295624	0.95574	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.998;0.988	D	0.95587	0.8651	10	0.87932	D	0	.	17.43	0.87537	0.0:0.0:1.0:0.0	.	237;491;491	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	D	491;496;491;491;491;491;491;237	ENSP00000380638:G491D;ENSP00000342242:G491D;ENSP00000440926:G491D;ENSP00000332816:G491D;ENSP00000391995:G491D;ENSP00000427931:G491D;ENSP00000380634:G237D	ENSP00000342242:G491D	G	+	2	0	PTK2B	27350875	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	6.644000	0.74338	2.720000	0.93068	0.561000	0.74099	GGC		0.567	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		49	66	0	0	0	1	0	49	66					A	27294958	G	A	27294958	3	1	3	1	0	0	0	0	1	0	0	0	12763	1203	42	2	1534	2	PTK2B	8	27294958	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		27294958	119069064	7	78											
HRCT1	646962	broad.mit.edu	37	9	35906344	35906344	+	Silent	SNP	G	G	A	rs374590028		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:35906344G>A	ENST00000354323.2	+	1	156	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	20						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						CTGCTGTGGCGGTCctgctgc	0.657																																						uc003zyr.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(58-60)gcG>gcA		Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.		G		0,4396		0,0,2198	21	25	24		60	-8.3	0.0	9		24	1,8597		0,1,4298	no	coding-synonymous	HRCT1	NM_001039792.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		20/116	35906344	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	646962					integral to membrane		g.chr9:35906344G>A		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.60G>A	9.37:g.35906344G>A			Somatic					p.A20A	NM_001039792	NP_001034881	WXS	Illumina GAIIx	Phase_I	Q6UXD1	HRCT1_HUMAN			0	156	+			20					B7ZBJ1	Silent	SNP	ENST00000354323.2	37	c.60G>A	CCDS35012.1																																																																																				0.657	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		3	16	0	0	0	1	0	3	16					A	35906344	G	A	35906344	2	1	3	1	0	0	0	0	0	0	0	1	7353	1103	39	1		1	HRCT1	9	35906344	Silent	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		35906344	105307087	8	79											
NANS	54187	broad.mit.edu	37	9	100845135	100845135	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr9:100845135A>C	ENST00000210444.5	+	6	948	c.878A>C	c.(877-879)aAg>aCg	p.K293T	TRIM14_ENST00000478530.1_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	293					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAGCTGGGCAAGTCTGTGGTG	0.488																																						uc004ayc.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(877-879)aAg>aCg		Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.							66	58	61					9																	100845135		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100845135A>C	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.878A>C	9.37:g.100845135A>C	ENSP00000210444:p.Lys293Thr		Somatic				TRIM14_uc004ayd.2_Intron	p.K293T	NM_018946	NP_061819	WXS	Illumina GAIIx	Phase_I	Q9NR45	SIAS_HUMAN			5	1010	+		Acute lymphoblastic leukemia(62;0.0559)	293					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.878A>C	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524750	0.85600	.	.	ENSG00000095380	ENST00000210444	T	0.50277	0.75	5.6	5.6	0.85130	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal (1);Aldolase-type TIM barrel (1);SAF domain (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.79805	2.47	0.80722	D	1	D	0.54964	0.969	P	0.58013	0.831	T	0.71444	-0.4591	10	0.87932	D	0	-23.0255	14.0504	0.64732	1.0:0.0:0.0:0.0	.	293	Q9NR45	SIAS_HUMAN	T	293	ENSP00000210444:K293T	ENSP00000210444:K293T	K	+	2	0	NANS	99884956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.277000	0.76020	0.528000	0.53228	AAG		0.488	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		32	37	0	0	0	1	0	32	37					C	100845135	A	C	100845135	3	2	3	1	0	0	0	0	1	0	0	0	10155	72	3	5	900	5	NANS	9	100845135	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	64938791	100845135	40368296	9	80											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		61	100	0	0	0	1	0	61	100					C	533874	T	C	533874	3	2	3	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A0Z2-01A-11D-A10S-08		533874	134472642	10	81											
MUC5B	727897	broad.mit.edu	37	11	1275535	1275535	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:1275535A>T	ENST00000529681.1	+	34	15489	c.15431A>T	c.(15430-15432)gAt>gTt	p.D5144V	MUC5B_ENST00000447027.1_Missense_Mutation_p.D5147V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5144	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGTCCATGGATATCGTCCTC	0.642																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15430-15432)gAt>gTt		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							34	41	39					11																	1275535		2166	4259	6425	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1275535A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15431A>T	11.37:g.1275535A>T	ENSP00000436812:p.Asp5144Val		Somatic					p.D5144V	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	33	15490	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5144			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15431A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	11.30	1.599474	0.28534	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.16457	2.34;2.53	4.4	1.9	0.25705	.	.	.	.	.	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	D;P	0.53619	0.961;0.891	P;P	0.51701	0.677;0.587	T	0.11567	-1.0582	9	0.87932	D	0	.	6.2598	0.20893	0.7419:0.1635:0.0945:0.0	.	5481;5147	A7Y9J9;E9PBJ0	.;.	V	5144;5147;5088;43;4856	ENSP00000436812:D5144V;ENSP00000415793:D5147V	ENSP00000343037:D5088V	D	+	2	0	MUC5B	1232111	0.012000	0.17670	0.012000	0.15200	0.507000	0.33981	2.113000	0.41902	1.754000	0.51921	0.329000	0.21502	GAT		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		23	32	0	0	0	1	0	23	32					T	1275535	A	T	1275535	3	4	3	1	0	0	0	0	1	0	0	0	9979	333	12	5	15574	5	MUC5B	11	1275535	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	741661	1275535	133730981	11	82											
PIK3C2A	5286	broad.mit.edu	37	11	17144297	17144297	+	Silent	SNP	A	A	G			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr11:17144297A>G	ENST00000265970.7	-	13	2462	c.2463T>C	c.(2461-2463)ccT>ccC	p.P821P	PIK3C2A_ENST00000540361.1_Silent_p.P441P|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	821	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAACTGTTCCAGGAACAGAAT	0.313																																						uc001mmq.4																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2461-2463)ccT>ccC		Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	Phosphatidylserine(DB00144)						82	82	82					11																	17144297		2200	4290	6490	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17144297A>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2463T>C	11.37:g.17144297A>G			Somatic				PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.P441P|PIK3C2A_uc001mmr.3_Intron	p.P821P	NM_002645	NP_002636	WXS	Illumina GAIIx	Phase_I	O00443	P3C2A_HUMAN			12	2528	-			821					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.2463T>C	CCDS7824.1																																																																																				0.313	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	75	0	0	0	1	0	7	75					G	17144297	A	G	17144297	2	3	3	1	0	0	0	0	0	0	0	1	11909	175	7	3		3	PIK3C2A	11	17144297	Silent	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08	15868762	17144297	117862219	12	83											
PDE3A	5139	broad.mit.edu	37	12	20799741	20799741	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:20799741A>T	ENST00000359062.3	+	12	2462	c.2422A>T	c.(2422-2424)Aat>Tat	p.N808Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	808	Catalytic. {ECO:0000250}.				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)			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)	AAAAACGTATAATGTGACAGA	0.398																																						uc001reh.2																			0				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.(2422-2424)Aat>Tat		Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						161	151	155					12																	20799741		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.chr12:20799741A>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2422A>T	12.37:g.20799741A>T	ENSP00000351957:p.Asn808Tyr		Somatic				PDE3A_uc021qwa.1_Missense_Mutation_p.N486Y	p.N808Y	NM_000921	NP_000912	WXS	Illumina GAIIx	Phase_I	Q14432	PDE3A_HUMAN			11	2462	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	808			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2422A>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880376	0.33255	.	.	ENSG00000172572	ENST00000359062	T	0.76709	-1.04	5.84	1.63	0.23807	Metal-dependent phosphohydrolase, HD domain (1);	0.512427	0.21568	N	0.072449	T	0.52025	0.1709	N	0.14661	0.345	0.09310	N	1	B	0.26400	0.148	B	0.26770	0.073	T	0.32375	-0.9909	10	0.09338	T	0.73	.	3.554	0.07857	0.6429:0.1098:0.1341:0.1132	.	808	Q14432	PDE3A_HUMAN	Y	808	ENSP00000351957:N808Y	ENSP00000351957:N808Y	N	+	1	0	PDE3A	20691008	0.000000	0.05858	0.183000	0.23137	0.988000	0.76386	0.335000	0.19806	0.447000	0.26695	0.519000	0.50382	AAT		0.398	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			98	109	0	0	0	1	0	98	109					T	20799741	A	T	20799741	3	4	3	1	0	0	0	0	1	0	0	0	11637	362	13	5	2468	5	PDE3A	12	20799741	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08		20799741	113052154	13	84											
SUOX	6821	broad.mit.edu	37	12	56397583	56397583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr12:56397583delG	ENST00000394109.3	+	3	1134	c.410delG	c.(409-411)tggfs	p.W137fs	SUOX_ENST00000548274.1_Frame_Shift_Del_p.W137fs|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Frame_Shift_Del_p.W137fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.W137fs|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Frame_Shift_Del_p.W137fs			P51687	SUOX_HUMAN	sulfite oxidase	137	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAGCCCTTCTGGGCCCTCTAT	0.557																																						uc001six.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(409-411)tggfs		Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							90	91	90					12																	56397583		2203	4300	6503	SO:0001589	frameshift_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397583delG	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.410delG	12.37:g.56397583delG	ENSP00000377668:p.Trp137fs		Somatic				SUOX_uc001siy.3_Frame_Shift_Del_p.W137fs|SUOX_uc001siz.3_Frame_Shift_Del_p.W137fs|SUOX_uc001sja.3_Frame_Shift_Del_p.W137fs	p.W137fs	NM_000456	NP_001027559	WXS	Illumina GAIIx	Phase_I	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		5	736	+			137			Cytochrome b5 heme-binding.			Frame_Shift_Del	DEL	ENST00000394109.3	37	c.410delG	CCDS8901.2																																																																																				0.557	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		97	126						97	126	---	---	---	---	-	56397583	G	-	56397583	7	5	3	1	0	1	0	1	0	0	0	0	15392	1357	47	0	420	0	SUOX	12	56397583	Frame_Shift_Del	DEL	G	TCGA-BJ-A0Z2-01A-11D-A10S-08	35597842	56397583	77454312	14	85											
PRKD1	5587	broad.mit.edu	37	14	30066788	30066788	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr14:30066788G>C	ENST00000331968.5	-	16	2572	c.2343C>G	c.(2341-2343)ttC>ttG	p.F781L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F789L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CATTAAATGGGAATGTGCCGC	0.438																																						uc001wqh.3																			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.(2341-2343)ttC>ttG		Homo sapiens protein kinase D1 (PRKD1), mRNA.							153	143	146					14																	30066788		2203	4300	6503	SO:0001583	missense	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.chr14:30066788G>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2343C>G	14.37:g.30066788G>C	ENSP00000333568:p.Phe781Leu		Somatic				MIR548AI_uc021rrv.1_Intron	p.F781L	NM_002742	NP_002733	WXS	Illumina GAIIx	Phase_I	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	15	2524	-	Hepatocellular(127;0.0604)		781			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2343C>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175349	0.78564	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.81659	-1.52;-1.52	5.62	1.91	0.25777	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	0.68311	0.2987	N	0.02721	-0.515	0.58432	D	0.999999	P	0.41159	0.74	P	0.52758	0.708	T	0.68250	-0.5458	10	0.46703	T	0.11	-26.8609	9.1712	0.37083	0.4272:0.0:0.5728:0.0	.	781	Q15139	KPCD1_HUMAN	L	781;789	ENSP00000333568:F781L;ENSP00000390535:F789L	ENSP00000333568:F781L	F	-	3	2	PRKD1	29136539	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.477000	0.22196	0.647000	0.30713	0.650000	0.86243	TTC		0.438	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		75	79	0	0	0	1	0	75	79					C	30066788	G	C	30066788	3	2	3	1	0	0	0	0	1	0	0	0	12518	1165	41	4	407	4	PRKD1	14	30066788	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		30066788	77282752	15	86											
ZNF652	22834	broad.mit.edu	37	17	47375973	47375973	+	Silent	SNP	C	C	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr17:47375973C>A	ENST00000362063.2	-	6	1941	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	ZNF652_ENST00000430262.2_Silent_p.R541R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	541	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			gggggatgggccgagggGGAA	0.597																																						uc002iov.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1621-1623)cgG>cgT		Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.							60	65	63					17																	47375973		2203	4300	6503	SO:0001819	synonymous_variant	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47375973C>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1623G>T	17.37:g.47375973C>A			Somatic				ZNF652_uc002iow.3_Silent_p.R541R|ZNF652_uc002iou.4_Non-coding_Transcript	p.R541R	NM_001145365	NP_055712	WXS	Illumina GAIIx	Phase_I	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		5	2087	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		541			Mediates interaction with CBFA2T3.|Pro-rich.		A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	37	c.1623G>T	CCDS32677.1																																																																																				0.597	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		22	30	0	0	0	1	0	22	30					A	47375973	C	A	47375973	2	1	3	1	0	0	0	0	0	0	0	1	18062	726	26	4		4	ZNF652	17	47375973	Silent	SNP	C	TCGA-BJ-A0Z2-01A-11D-A10S-08		47375973	33819237	16	87											
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567																																						uc010dln.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S75S(2)|p.S75R(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(223-225)agC>agT		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							43	53	50					18																	14542921		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542921G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.225C>T	18.37:g.14542921G>A			Somatic				POTEC_uc010xaj.2_Non-coding_Transcript	p.S75S	NM_001137671	NP_001131143	WXS	Illumina GAIIx	Phase_I	B2RU33	POTEC_HUMAN			0	679	-			75						Silent	SNP	ENST00000358970.5	37	c.225C>T	CCDS45835.1																																																																																				0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		113	234	0	0	0	1	0	113	234					A	14542921	G	A	14542921	2	1	3	1	0	0	0	0	0	0	0	1	12262	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		14542921	63534327	17	88											
MUC16	94025	broad.mit.edu	37	19	9049457	9049457	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chr19:9049457G>C	ENST00000397910.4	-	5	32377	c.32174C>G	c.(32173-32175)cCa>cGa	p.P10725R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10727	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						AGTCATAATTGGAATAGCTGA	0.443																																						uc002mkp.3																			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.(32173-32175)cCa>cGa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							239	211	220					19																	9049457		1915	4137	6052	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049457G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32174C>G	19.37:g.9049457G>C	ENSP00000381008:p.Pro10725Arg		Somatic					p.P10725R	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			4	32378	-			10727			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32174C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.879	0.163394	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.03242	4.0	3.18	2.1	0.27182	.	.	.	.	.	T	0.07954	0.0199	L	0.36672	1.1	.	.	.	D	0.69078	0.997	P	0.62184	0.899	T	0.18618	-1.0331	8	0.87932	D	0	.	6.6459	0.22934	0.1363:0.0:0.8637:0.0	.	10725	B5ME49	.	R	10725	ENSP00000381008:P10725R	ENSP00000381008:P10725R	P	-	2	0	MUC16	8910457	0.031000	0.19500	0.001000	0.08648	0.043000	0.13939	1.433000	0.34947	0.862000	0.35528	0.479000	0.44913	CCA		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		159	215	0	0	0	1	0	159	215					C	9049457	G	C	9049457	3	2	3	1	0	0	0	0	1	0	0	0	9973	1348	47	4	11669	4	MUC16	19	9049457	Missense_Mutation	SNP	G	TCGA-BJ-A0Z2-01A-11D-A10S-08		9049457	50079526	18	89											
KIAA2022	340533	broad.mit.edu	37	X	73963336	73963336	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z2-01A-11D-A10S-08	TCGA-BJ-A0Z2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dd5eea1-42a1-4e8b-99ac-20399cc7e15c	6f8f241c-648e-42c0-8660-600b58036c3a	g.chrX:73963336A>C	ENST00000055682.6	-	3	1667	c.1056T>G	c.(1054-1056)agT>agG	p.S352R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	352					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAGGGCCCCACTCTTAGACT	0.468																																						uc004eby.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1054-1056)agT>agG		Homo sapiens KIAA2022 (KIAA2022), mRNA.							59	55	56					X																	73963336		2203	4299	6502	SO:0001583	missense	340533				DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963336A>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1056T>G	X.37:g.73963336A>C	ENSP00000055682:p.Ser352Arg		Somatic					p.S352R	NM_001008537	NP_001008537	WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			2	1673	-			352					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1056T>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	7.196	0.592526	0.13875	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.93	2.31	0.28768	.	0.901601	0.10006	N	0.727817	T	0.24890	0.0604	L	0.44542	1.39	0.38431	D	0.946445	B	0.02656	0.0	B	0.06405	0.002	T	0.10894	-1.0610	10	0.62326	D	0.03	-3.7851	5.2431	0.15483	0.4481:0.2186:0.3334:0.0	.	352	Q5QGS0	K2022_HUMAN	R	352	ENSP00000362567:S352R;ENSP00000055682:S352R	ENSP00000055682:S352R	S	-	3	2	KIAA2022	73880061	0.414000	0.25408	0.995000	0.50966	0.372000	0.29890	0.174000	0.16743	0.340000	0.23745	0.486000	0.48141	AGT		0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		4	71	0	0	0	1	0	4	71					C	73963336	A	C	73963336	3	2	3	1	0	0	0	0	1	0	0	0	8269	156	6	5	3502	5	KIAA2022	23	73963336	Missense_Mutation	SNP	A	TCGA-BJ-A0Z2-01A-11D-A10S-08		73963336	81307224	19	90											
USP40	55230	broad.mit.edu	37	2	234389870	234389870	+	Missense_Mutation	SNP	C	C	T	rs368386083		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:234389870C>T	ENST00000427112.2	-	30	3610	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	USP40_ENST00000251722.6_Missense_Mutation_p.R1192Q|USP40_ENST00000450966.1_Missense_Mutation_p.R1204Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1192					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCCAGGGCCCGTTGTTTCTG	0.453																																						uc010zmr.2																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3610-3612)cGg>cAg		Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.		C	GLN/ARG	0,3788		0,0,1894	185	176	179		3611	-3.9	0.0	2		179	1,8215		0,1,4107	no	missense	USP40	NM_018218.2	43	0,1,6001	TT,TC,CC		0.0122,0.0,0.0083	benign	1204/1248	234389870	1,12003	1894	4108	6002	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234389870C>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3575G>A	2.37:g.234389870C>T	ENSP00000387898:p.Arg1192Gln		Somatic				USP40_uc002vul.3_Missense_Mutation_p.R188Q	p.R1204Q	NM_018218	NP_060688	WXS	Illumina GAIIx	Phase_I	Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	29	3611	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1192					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.3611G>A	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279279	0.23307	0.0	1.22E-4	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.04454	3.62;3.62;3.62	5.22	-3.86	0.04230	.	1.478860	0.04070	N	0.307878	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42515	-0.9447	10	0.21540	T	0.41	.	0.2608	0.00218	0.3485:0.2333:0.1984:0.2198	.	1204	Q9NVE5-3	.	Q	1204;1192;1192	ENSP00000415434:R1204Q;ENSP00000251722:R1192Q;ENSP00000387898:R1192Q	ENSP00000251722:R1192Q	R	-	2	0	USP40	234054609	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	0.221000	0.17680	-1.046000	0.03246	-1.061000	0.02294	CGG		0.453	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		3	19	0	0	0	1	0	3	19					T	234389870	C	T	234389870	3	4	4	1	0	0	0	0	1	0	0	0	17069	652	23	1	140	1	USP40	2	234389870	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		234389870	8809503	1	91											
RAD18	56852	broad.mit.edu	37	3	8990195	8990195	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:8990195C>T	ENST00000264926.2	-	3	309	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	65					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AAACTCACCACACAGCAAGTT	0.338								Rad6 pathway																														uc003brd.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(193-195)Gtg>Atg	Rad6 pathway	Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA.							101	113	109					3																	8990195		2203	4297	6500	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	Y-form DNA binding|damaged DNA binding|ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr3:8990195C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.193G>A	3.37:g.8990195C>T	ENSP00000264926:p.Val65Met		Somatic					p.V65M	NM_020165	NP_064550	WXS	Illumina GAIIx	Phase_I	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	2	283	-			65					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.193G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241616	0.79912	.	.	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.17528	2.27;2.27	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);	0.195636	0.46145	D	0.000310	T	0.21841	0.0526	N	0.20357	0.565	0.43467	D	0.995678	P	0.46621	0.881	P	0.53988	0.739	T	0.00945	-1.1505	10	0.42905	T	0.14	-5.5725	15.3966	0.74798	0.0:1.0:0.0:0.0	.	65	Q9NS91	RAD18_HUMAN	M	65	ENSP00000264926:V65M;ENSP00000412261:V65M	ENSP00000264926:V65M	V	-	1	0	RAD18	8965195	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.083000	0.30815	2.717000	0.92951	0.655000	0.94253	GTG		0.338	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		4	155	0	0	0	1	0	4	155					T	8990195	C	T	8990195	3	4	4	1	0	0	0	0	1	0	0	0	12980	478	17	2	1338	2	RAD18	3	8990195	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		8990195	189032235	2	92											
CTNNB1	1499	broad.mit.edu	37	3	41280717	41280717	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:41280717C>A	ENST00000349496.5	+	15	2510	c.2230C>A	c.(2230-2232)Cct>Act	p.P744T	CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737T|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744T|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	744					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGCCACCACCCTGGTGCTGA	0.557		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(2230-2232)Cct>Act		Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	Lithium(DB01356)						81	73	76					3																	41280717		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280717C>A	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2230C>A	3.37:g.41280717C>A	ENSP00000344456:p.Pro744Thr		Somatic				CTNNB1_uc003ckq.2_Missense_Mutation_p.P744T|CTNNB1_uc003ckp.2_Missense_Mutation_p.P744T|CTNNB1_uc003ckr.2_Missense_Mutation_p.P744T|CTNNB1_uc011azf.1_Missense_Mutation_p.P737T|CTNNB1_uc011azg.1_Missense_Mutation_p.P672T	p.P744T	NM_001904	NP_001895	WXS	Illumina GAIIx	Phase_I	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	15	2386	+			744					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2230C>A	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082871	0.36758	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.43152	1.355	0.80722	D	1	B;B	0.27068	0.167;0.0	B;B	0.21360	0.034;0.001	T	0.42275	-0.9461	10	0.49607	T	0.09	-28.1093	19.7949	0.96477	0.0:1.0:0.0:0.0	.	672;744	B4DSW9;P35222	.;CTNB1_HUMAN	T	744;744;744;737;744	ENSP00000385604:P744T;ENSP00000379486:P744T;ENSP00000344456:P744T;ENSP00000411226:P737T;ENSP00000379488:P744T	ENSP00000344456:P744T	P	+	1	0	CTNNB1	41255721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.679000	0.91253	0.557000	0.71058	CCT		0.557	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		6	90	0	0	0	1	0	6	90					A	41280717	C	A	41280717	3	1	4	1	0	0	0	0	1	0	0	0	4016	623	22	4	2284	4	CTNNB1	3	41280717	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	32290522	41280717	156741713	3	93											
KBTBD5	131377	broad.mit.edu	37	3	42727577	42727577	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:42727577T>A	ENST00000287777.4	+	1	567	c.467T>A	c.(466-468)aTc>aAc	p.I156N		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	156	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGCGACTTCATCTGCGCTCAC	0.657																																						uc003clv.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(466-468)aTc>aAc		Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.							59	59	59					3																	42727577		2203	4299	6502	SO:0001583	missense	131377							g.chr3:42727577T>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.467T>A	3.37:g.42727577T>A	ENSP00000287777:p.Ile156Asn		Somatic					p.I156N	NM_152393	NP_689606	WXS	Illumina GAIIx	Phase_I	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	0	567	+			156			BACK.		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.467T>A	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848943	0.71603	.	.	ENSG00000157119	ENST00000287777	T	0.73047	-0.71	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.175151	0.51477	D	0.000097	D	0.86682	0.5991	M	0.92738	3.34	0.47905	D	0.999544	D	0.71674	0.998	D	0.70935	0.971	D	0.90089	0.4176	10	0.87932	D	0	.	14.0796	0.64912	0.0:0.0:0.0:1.0	.	156	Q2TBA0	KBTB5_HUMAN	N	156	ENSP00000287777:I156N	ENSP00000287777:I156N	I	+	2	0	KBTBD5	42702581	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.977000	0.56874	1.937000	0.56155	0.533000	0.62120	ATC		0.657	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		9	60	0	0	0	1	0	9	60					A	42727577	T	A	42727577	3	1	4	1	0	0	0	0	1	0	0	0	7996	1435	50	5	469	5	KBTBD5	3	42727577	Missense_Mutation	SNP	T	TCGA-BJ-A0Z3-01A-11D-A13W-08	1446860	42727577	155294853	4	94											
RASSF1	11334	broad.mit.edu	37	3	50368106	50368106	+	5'Flank	SNP	C	C	T	rs142957899		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:50368106C>T	ENST00000232496.4	-	0	0				RASSF1_ENST00000357043.2_Missense_Mutation_p.R314Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240Q|RASSF1_ENST00000395126.3_Missense_Mutation_p.R159Q|TUSC2_ENST00000462137.1_5'Flank|RASSF1_ENST00000359365.4_Missense_Mutation_p.R310Q	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCCTCCTCCCGCTGCAGGAT	0.587																																						uc003dad.1																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(940-942)cGg>cAg		Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	103	92	95		476,929,476,719,941	5.5	1.0	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	RASSF1	NM_001206957.1,NM_007182.4,NM_170712.2,NM_170713.2,NM_170714.1	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/190,310/341,159/190,240/271,314/345	50368106	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	11186				Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein N-terminus binding|protein binding|zinc ion binding	g.chr3:50368106C>T	AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"PDGFA associated protein 2"	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368106C>T	Exception_encountered		Somatic				TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Missense_Mutation_p.R159Q|RASSF1_uc003dab.1_Missense_Mutation_p.R240Q|RASSF1_uc003dac.2_Missense_Mutation_p.R159Q|RASSF1_uc003dae.1_Missense_Mutation_p.R310Q|RASSF1_uc003daf.1_Missense_Mutation_p.R159Q|RASSF1_uc010hlk.1_Non-coding_Transcript	p.R314Q	NM_170714	NP_733830	WXS	Illumina GAIIx	Phase_I	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	1072	-			314			SARAH.		B2R4Y9	Missense_Mutation	SNP	ENST00000232496.4	37	c.941G>A	CCDS2819.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279396	0.95489	0.0	1.16E-4	ENSG00000068028	ENST00000327761;ENST00000395126;ENST00000357043;ENST00000359365	T;T;T;T	0.76968	2.71;2.25;-1.06;-1.06	5.49	5.49	0.81192	SARAH (1);	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.977	D;D;P	0.91635	0.951;0.999;0.618	D	0.87265	0.2282	10	0.51188	T	0.08	-30.2568	18.3174	0.90226	0.0:1.0:0.0:0.0	.	310;314;240	Q9NS23-2;Q9NS23;Q5TZT2	.;RASF1_HUMAN;.	Q	240;159;314;310	ENSP00000333327:R240Q;ENSP00000378558:R159Q;ENSP00000349547:R314Q;ENSP00000352323:R310Q	ENSP00000333327:R240Q	R	-	2	0	RASSF1	50343110	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.852000	0.55934	2.735000	0.93741	0.563000	0.77884	CGG		0.587	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346399.1	NM_007275		27	90	0	0	0	1	0	27	90					T	50368106	C	T	50368106	1	4	4	0	1	0	0	0	0	0	0	0	13084	652	23	1		1	RASSF1	3	50368106	5'Flank	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	7640529	50368106	147654324	5	95											
CACNA1D	776	broad.mit.edu	37	3	53757947	53757947	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:53757947G>A	ENST00000350061.5	+	14	2532	c.2021G>A	c.(2020-2022)gGc>gAc	p.G674D	CACNA1D_ENST00000422281.2_Missense_Mutation_p.G674D|CACNA1D_ENST00000288139.4_Missense_Mutation_p.G694D	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	674					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)	CTGTTTGGCGGCAAGTTTAAT	0.458																																						uc003dgu.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.(2080-2082)gGc>gAc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 1, mRNA.	Verapamil(DB00661)						141	130	134					3																	53757947		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.chr3:53757947G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2021G>A	3.37:g.53757947G>A	ENSP00000288133:p.Gly674Asp		Somatic				CACNA1D_uc003dgv.4_Missense_Mutation_p.G674D|CACNA1D_uc003dgy.4_Missense_Mutation_p.G674D|CACNA1D_uc003dgw.4_Missense_Mutation_p.G341D	p.G694D	NM_000720	NP_000711	WXS	Illumina GAIIx	Phase_I	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)	14	2244	+			674					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2081G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332736	0.95733	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	M	0.91249	3.19	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;0.999;1.0	D	0.99013	1.0815	10	0.87932	D	0	.	20.417	0.99027	0.0:0.0:1.0:0.0	.	674;367;674;694	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	D	674;694;674;367	ENSP00000288133:G674D;ENSP00000288139:G694D;ENSP00000409174:G674D;ENSP00000418014:G367D	ENSP00000288139:G694D	G	+	2	0	CACNA1D	53732987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.832000	0.97577	0.585000	0.79938	GGC		0.458	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		4	179	0	0	0	1	0	4	179					A	53757947	G	A	53757947	3	1	4	1	0	0	0	0	1	0	0	0	2541	1203	42	2	2247	2	CACNA1D	3	53757947	Missense_Mutation	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08	3389841	53757947	144264483	6	96											
SLIT2	9353	broad.mit.edu	37	4	20259495	20259495	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr4:20259495C>T	ENST00000504154.1	+	3	508	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	SLIT2_ENST00000503837.1_Missense_Mutation_p.L86F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L86F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L86F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	86					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						TTTCAGTCAGCTTATGGAGAA	0.333																																						uc003gpr.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.(256-258)Ctt>Ttt		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							143	157	152					4																	20259495		2203	4296	6499	SO:0001583	missense	9353				Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	g.chr4:20259495C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.256C>T	4.37:g.20259495C>T	ENSP00000422591:p.Leu86Phe		Somatic				SLIT2_uc003gps.1_Missense_Mutation_p.L86F	p.L86F	NM_004787	NP_004778	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			2	460	+			86					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.256C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042557	0.75732	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-0.93	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	D	0.90920	0.7146	H	0.94222	3.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92232	0.5793	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	86;86	O94813-3;O94813	.;SLIT2_HUMAN	F	86;86;86;86;86;47	ENSP00000427548:L86F;ENSP00000422591:L86F;ENSP00000273739:L86F;ENSP00000422261:L86F;ENSP00000426356:L47F	ENSP00000273739:L86F	L	+	1	0	SLIT2	19868593	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.144000	0.58057	2.882000	0.98803	0.655000	0.94253	CTT		0.333	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			5	189	0	0	0	1	0	5	189					T	20259495	C	T	20259495	3	4	4	1	0	0	0	0	1	0	0	0	14740	797	28	2	266	2	SLIT2	4	20259495	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		20259495	170894781	7	97											
SPEF2	79925	broad.mit.edu	37	5	35800129	35800129	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr5:35800129G>A	ENST00000356031.3	+	34	5044	c.4890G>A	c.(4888-4890)caG>caA	p.Q1630Q	SPEF2_ENST00000440995.2_Silent_p.Q1625Q|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.Q427Q	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1630					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTACACACAGATGCTGCTTT	0.463																																						uc003jjo.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(4888-4890)caG>caA		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.							244	223	230					5																	35800129		1988	4167	6155	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35800129G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4890G>A	5.37:g.35800129G>A			Somatic				SPEF2_uc003jjp.1_Silent_p.Q1116Q|SPEF2_uc003jjr.3_Silent_p.Q685Q	p.Q1630Q	NM_024867	NP_079143	WXS	Illumina GAIIx	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		33	5001	+	all_lung(31;7.56e-05)		1630					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.4890G>A	CCDS43309.1																																																																																				0.463	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		8	268	0	0	0	1	0	8	268					A	35800129	G	A	35800129	2	1	4	1	0	0	0	0	0	0	0	1	15034	933	33	2		2	SPEF2	5	35800129	Silent	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		35800129	145115131	8	98											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	72	0	0	0	1	0	26	72					T	140453136	A	T	140453136	3	4	4	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0Z3-01A-11D-A13W-08		140453136	18685527	9	99											
MCF2L	23263	broad.mit.edu	37	13	113742643	113742643	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr13:113742643G>A	ENST00000375608.3	+	25	2839	c.2781G>A	c.(2779-2781)gcG>gcA	p.A927A	MCF2L_ENST00000375597.4_Silent_p.A895A|MCF2L_ENST00000375604.2_Silent_p.A954A|MCF2L_ENST00000434480.2_Silent_p.A903A|MCF2L_ENST00000421756.1_Silent_p.A901A|MCF2L_ENST00000535094.2_Silent_p.A897A|MCF2L_ENST00000375601.3_Silent_p.A901A|MCF2L_ENST00000423482.2_Silent_p.A895A|MCF2L_ENST00000442652.2_Silent_p.A927A|MCF2L_ENST00000397030.1_Silent_p.A930A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	927	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGAAACAGGCGCCAACTCCTG	0.522																																						uc001vsu.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2860-2862)gcG>gcA		Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.							99	109	106					13																	113742643		2203	4300	6503	SO:0001819	synonymous_variant	23263				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742643G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2781G>A	13.37:g.113742643G>A			Somatic				MCF2L_uc001vsq.3_Silent_p.A954A|MCF2L_uc010tjr.2_Silent_p.A897A|MCF2L_uc001vsr.3_Silent_p.A901A|MCF2L_uc001vss.4_Silent_p.A895A|MCF2L_uc010tjs.2_Silent_p.A895A	p.A954A	NM_024979	NP_079255	WXS	Illumina GAIIx	Phase_I	O15068	MCF2L_HUMAN			23	2862	+	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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	927					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.2862G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.037|0.037	-1.302824|-1.302824	0.01353|0.01353	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297;ENST00000439475|ENST00000413354;ENST00000261963	T;T;T|.	0.38560|.	1.13;1.13;1.13|.	4.29|4.29	-6.9|-6.9	0.01655|0.01655	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36496|0.36496	0.0969|0.0969	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41998|0.41998	-0.9477|-0.9477	7|4	0.87932|.	D|.	0|.	.|.	3.0267|3.0267	0.06094|0.06094	0.4204:0.1144:0.3539:0.1113|0.4204:0.1144:0.3539:0.1113	.|.	.|.	.|.	.|.	T|H	558;52;3|127;68	ENSP00000380212:A558T;ENSP00000392953:A52T;ENSP00000411315:A3T|.	ENSP00000380212:A558T|.	A|R	+|+	1|2	0|0	MCF2L|MCF2L	112790644|112790644	0.084000|0.084000	0.21492|0.21492	0.249000|0.249000	0.24280|0.24280	0.031000|0.031000	0.12232|0.12232	-0.468000|-0.468000	0.06656|0.06656	-0.995000|-0.995000	0.03459|0.03459	-1.166000|-1.166000	0.01754|0.01754	GCC|CGC		0.522	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	187	0	0	0	1	0	5	187					A	113742643	G	A	113742643	2	1	4	1	0	0	0	0	0	0	0	1	9379	1074	38	1		1	MCF2L	13	113742643	Silent	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		113742643	1427235	10	100											
VIPAR	63894	broad.mit.edu	37	14	77904217	77904217	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr14:77904217T>C	ENST00000553888.1	-	12	1280	c.770A>G	c.(769-771)cAt>cGt	p.H257R	VIPAS39_ENST00000327028.4_Missense_Mutation_p.H244R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.H257R|VIPAS39_ENST00000343765.2_Missense_Mutation_p.H257R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.H208R|VIPAS39_ENST00000556412.1_Missense_Mutation_p.H283R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	257					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CTCTCGATAATGAGATAGCTA	0.348																																						uc001xtt.2																			0											c.(769-771)cAt>cGt		Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.							94	91	92					14																	77904217		2202	4300	6502	SO:0001583	missense	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77904217T>C	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.770A>G	14.37:g.77904217T>C	ENSP00000452181:p.His257Arg		Somatic				C14orf133_uc001xtu.2_Missense_Mutation_p.H257R|C14orf133_uc001xtv.2_Missense_Mutation_p.H257R|C14orf133_uc021rwu.1_Missense_Mutation_p.H257R|C14orf133_uc010tvj.2_Missense_Mutation_p.H208R	p.H257R	NM_022067	NP_071350	WXS	Illumina GAIIx	Phase_I	Q9H9C1	VIPAR_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	12	1187	-			257					B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.770A>G	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137357	0.37728	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.61	5.61	0.85477	.	0.099468	0.64402	D	0.000001	T	0.23611	0.0571	N	0.08118	0	0.40078	D	0.976096	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.12578	-1.0542	10	0.11182	T	0.66	-15.9951	15.4512	0.75274	0.0:0.0:0.0:1.0	.	208;257	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	R	257;257;244;257;208;283	ENSP00000339122:H257R;ENSP00000452181:H257R;ENSP00000313098:H244R;ENSP00000452191:H257R;ENSP00000404815:H208R;ENSP00000451857:H283R	ENSP00000313098:H244R	H	-	2	0	VIPAR	76973970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.376000	0.59556	2.117000	0.64856	0.496000	0.49642	CAT		0.348	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		4	135	0	0	0	1	0	4	135					C	77904217	T	C	77904217	3	2	4	1	0	0	0	0	1	0	0	0	17165	1464	51	3	747	3	VIPAR	14	77904217	Missense_Mutation	SNP	T	TCGA-BJ-A0Z3-01A-11D-A13W-08		77904217	29445323	11	101											
PLCB2	5330	broad.mit.edu	37	15	40585837	40585837	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr15:40585837C>T	ENST00000260402.3	-	20	2399	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R717H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R713H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	717	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		AGTTCGATAGCGCCTCTTGGG	0.582																																						uc001zld.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.(2149-2151)cGc>cAc		Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.							97	103	101					15																	40585837		2008	4189	6197	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.chr15:40585837C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2150G>A	15.37:g.40585837C>T	ENSP00000260402:p.Arg717His		Somatic				PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.R713H|PLCB2_uc010ucm.2_Missense_Mutation_p.R717H	p.R717H	NM_004573	NP_004564	WXS	Illumina GAIIx	Phase_I	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	19	2451	-		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)	717			C2.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2150G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488382	0.84854	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.70986	-0.53;-0.53	4.7	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.399468	0.23782	N	0.044605	T	0.75882	0.3910	L	0.58302	1.8	0.80722	D	1	D;P;D	0.71674	0.998;0.472;0.994	P;B;D	0.62955	0.89;0.036;0.909	T	0.77403	-0.2601	10	0.87932	D	0	.	5.5806	0.17248	0.0:0.7611:0.0:0.2388	.	717;713;717	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	717	ENSP00000260402:R717H;ENSP00000411991:R717H	ENSP00000260402:R717H	R	-	2	0	PLCB2	38373129	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.952000	0.70282	2.442000	0.82660	0.542000	0.68232	CGC		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	136	0	0	0	1	0	4	136					T	40585837	C	T	40585837	3	4	4	1	0	0	0	0	1	0	0	0	12028	768	27	1	1459	1	PLCB2	15	40585837	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		40585837	61945555	12	102											
ABCC6	368	broad.mit.edu	37	16	16256941	16256941	+	Missense_Mutation	SNP	C	C	T	rs63750146		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:16256941C>T	ENST00000205557.7	-	24	3444	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1139	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		A -> T (in PXE; dbSNP:rs63750146). {ECO:0000269|PubMed:17617515}.		response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GTTCGGAATGCCCGGACCACT	0.582																																						uc002den.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43	GRCh37	CM073973	ABCC6	M	rs63750146	c.(3415-3417)Gca>Aca		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.							73	76	75					16																	16256941		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16256941C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3415G>A	16.37:g.16256941C>T	ENSP00000205557:p.Ala1139Thr		Somatic				ABCC6_uc010bvo.3_Intron	p.A1139T	NM_001171	NP_001162	WXS	Illumina GAIIx	Phase_I	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	23	3452	-			1139			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3415G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264369	0.95399	.	.	ENSG00000091262	ENST00000205557	D	0.91843	-2.92	5.42	5.42	0.78866	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.48767	U	0.000164	D	0.97492	0.9179	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98490	1.0609	10	0.87932	D	0	.	19.2117	0.93758	0.0:1.0:0.0:0.0	rs63750146	1139	O95255	MRP6_HUMAN	T	1139	ENSP00000205557:A1139T	ENSP00000205557:A1139T	A	-	1	0	ABCC6	16164442	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.801000	0.85960	2.520000	0.84964	0.655000	0.94253	GCA		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			4	156	0	0	0	1	0	4	156					T	16256941	C	T	16256941	3	4	4	1	0	0	0	0	1	0	0	0	57	739	26	2	1128	2	ABCC6	16	16256941	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		16256941	74097812	13	103											
C3	718	broad.mit.edu	37	19	6682003	6682003	+	Silent	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:6682003C>T	ENST00000245907.6	-	35	4391	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1433	Properdin-binding.				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)	CTTTGTCCAGCTCATACTTGG	0.562																																						uc002mfm.3																			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.(4297-4299)gaG>gaA		Homo sapiens complement component 3 (C3), mRNA.							181	164	170					19																	6682003		2203	4300	6503	SO:0001819	synonymous_variant	718				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6682003C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4299G>A	19.37:g.6682003C>T			Somatic					p.E1433E	NM_000064	NP_000055	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	34	4361	-			1433			Properdin-binding.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4299G>A	CCDS32883.1																																																																																				0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		57	169	0	0	0	1	0	57	169					T	6682003	C	T	6682003	2	4	4	1	0	0	0	0	0	0	0	1	2204	796	28	2		2	C3	19	6682003	Silent	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08		6682003	52446980	14	104											
SIN3B	23309	broad.mit.edu	37	19	16952630	16952630	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:16952630C>T	ENST00000248054.5	+	4	454	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	SIN3B_ENST00000596802.1_Missense_Mutation_p.P145S|CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000379803.1_Missense_Mutation_p.P145S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGCAGGTGCCGTATAAAGA	0.522																																						uc002ney.2																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(433-435)Ccg>Tcg		Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.							100	92	95					19																	16952630		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16952630C>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.433C>T	19.37:g.16952630C>T	ENSP00000248054:p.Pro145Ser		Somatic				SIN3B_uc002new.3_Missense_Mutation_p.P145S|SIN3B_uc002nez.2_Missense_Mutation_p.P145S	p.P145S	NM_015260	NP_056075	WXS	Illumina GAIIx	Phase_I	O75182	SIN3B_HUMAN			3	456	+			145						Missense_Mutation	SNP	ENST00000248054.5	37	c.433C>T		.	.	.	.	.	.	.	.	.	.	C	15.93	2.979374	0.53827	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.50001	0.76;0.8	5.41	1.99	0.26369	.	0.814419	0.11165	N	0.592609	T	0.29620	0.0739	N	0.25332	0.735	0.09310	N	1	B;B;B	0.13145	0.001;0.0;0.007	B;B;B	0.14023	0.003;0.001;0.01	T	0.25012	-1.0144	10	0.13108	T	0.6	0.8534	6.6648	0.23035	0.0:0.6936:0.1448:0.1616	.	145;145;145	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	S	145	ENSP00000369131:P145S;ENSP00000248054:P145S	ENSP00000248054:P145S	P	+	1	0	SIN3B	16813630	0.041000	0.20044	0.002000	0.10522	0.643000	0.38383	0.989000	0.29629	0.621000	0.30232	0.557000	0.71058	CCG		0.522	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	119	0	0	0	1	0	4	119					T	16952630	C	T	16952630	3	4	4	1	0	0	0	0	1	0	0	0	14326	739	26	2	447	2	SIN3B	19	16952630	Missense_Mutation	SNP	C	TCGA-BJ-A0Z3-01A-11D-A13W-08	10270627	16952630	42176353	15	105											
ZNF616	90317	broad.mit.edu	37	19	52618688	52618688	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:52618688A>G	ENST00000600228.1	-	4	1990	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	577					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(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTGCATTTGTAAGGTTTCTCT	0.418																																						uc002pym.3																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1729-1731)Tac>Cac		Homo sapiens zinc finger protein 616 (ZNF616), mRNA.							110	95	100					19																	52618688		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618688A>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1729T>C	19.37:g.52618688A>G	ENSP00000471000:p.Tyr577His		Somatic				ZNF616_uc002pyn.3_Non-coding_Transcript	p.Y577H	NM_178523	NP_848618	WXS	Illumina GAIIx	Phase_I	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	3	2012	-			577					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1729T>C	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911160	0.52439	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.544	0.17185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38931	0.1059	N	0.21324	0.655	0.21697	N	0.999589	D	0.76494	0.999	D	0.72338	0.977	T	0.18935	-1.0321	8	0.59425	D	0.04	.	5.4645	0.16635	0.836:0.0:0.164:0.0	.	577	Q08AN1	ZN616_HUMAN	H	577	.	ENSP00000328722:Y577H	Y	-	1	0	ZNF616	57310500	0.001000	0.12720	0.021000	0.16686	0.333000	0.28666	1.564000	0.36375	-0.052000	0.13311	0.254000	0.18369	TAC		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		3	77	0	0	0	1	0	3	77					G	52618688	A	G	52618688	3	3	4	1	0	0	0	0	1	0	0	0	18038	362	13	3	620	3	ZNF616	19	52618688	Missense_Mutation	SNP	A	TCGA-BJ-A0Z3-01A-11D-A13W-08	35666058	52618688	6510295	16	106											
RFPL1	5988	broad.mit.edu	37	22	29835022	29835022	+	Missense_Mutation	SNP	G	G	C	rs369425454		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr22:29835022G>C	ENST00000354373.2	+	1	451	c.242G>C	c.(241-243)tGt>tCt	p.C81S	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	81							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TGCTGTTGCTGTTCCATGGTC	0.517																																						uc003afn.3																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(241-243)tGt>tCt		Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.							147	136	139					22																	29835022		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835022G>C	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.242G>C	22.37:g.29835022G>C	ENSP00000346342:p.Cys81Ser		Somatic				RFPL1-AS1_uc003afm.2_Non-coding_Transcript	p.C81S	NM_021026	NP_066306	WXS	Illumina GAIIx	Phase_I	O75677	RFPL1_HUMAN			0	451	+			81					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.242G>C	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	10.66	1.413858	0.25465	.	.	ENSG00000128250	ENST00000354373	T	0.54479	0.57	1.23	1.23	0.21249	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.55986	0.1955	M	0.62723	1.935	0.09310	N	1	B	0.22276	0.067	B	0.41813	0.367	T	0.57974	-0.7718	9	0.45353	T	0.12	.	6.348	0.21361	0.0:0.0:1.0:0.0	.	81	O75677	RFPL1_HUMAN	S	81	ENSP00000346342:C81S	ENSP00000346342:C81S	C	+	2	0	RFPL1	28165022	0.829000	0.29322	0.002000	0.10522	0.004000	0.04260	3.427000	0.52785	0.579000	0.29504	0.418000	0.28097	TGT		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		42	151	0	0	0	1	0	42	151					C	29835022	G	C	29835022	3	2	4	1	0	0	0	0	1	0	0	0	13253	1377	48	4	244	4	RFPL1	22	29835022	Missense_Mutation	SNP	G	TCGA-BJ-A0Z3-01A-11D-A13W-08		29835022	21469544	17	107											
VCAM1	7412	broad.mit.edu	37	1	101198098	101198098	+	Silent	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:101198098C>A	ENST00000294728.2	+	7	1751	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	VCAM1_ENST00000347652.2_Silent_p.L458L|VCAM1_ENST00000370115.1_Silent_p.L351L|VCAM1_ENST00000370119.4_Silent_p.L488L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	550	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAGGCAGCTCCCTAACGGGG	0.478																																						uc001dti.3																			0		p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1648-1650)ctC>ctA		Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	Carvedilol(DB01136)						43	47	46					1																	101198098		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198098C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1650C>A	1.37:g.101198098C>A			Somatic				VCAM1_uc010ouj.2_Silent_p.L488L|VCAM1_uc001dtj.3_Silent_p.L458L	p.L550L	NM_001078	NP_001069	WXS	Illumina GAIIx	Phase_I	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1871	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	550			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1650C>A	CCDS773.1																																																																																				0.478	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		8	56	0	0	0	1	0	8	56					A	101198098	C	A	101198098	2	1	5	1	0	0	0	0	0	0	0	1	17134	842	30	4		4	VCAM1	1	101198098	Silent	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		101198098	148052523	1	108											
SLC26A9	115019	broad.mit.edu	37	1	205892719	205892719	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:205892719G>C	ENST00000367135.3	-	14	1632	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	SLC26A9_ENST00000340781.4_Missense_Mutation_p.Q507E|SLC26A9_ENST00000367134.2_Missense_Mutation_p.Q507E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	507					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)	p.Q507K(1)		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)			TCCATGACCTGGGCCAGTGCA	0.493																																						uc001hdp.3																			1	Substitution - Missense(1)	p.Q507K(2)	breast(1)	NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1519-1521)Cag>Gag		Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.							113	103	106					1																	205892719		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205892719G>C	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1519C>G	1.37:g.205892719G>C	ENSP00000356103:p.Gln507Glu		Somatic				SLC26A9_uc001hdo.3_Missense_Mutation_p.Q175E|SLC26A9_uc001hdq.3_Missense_Mutation_p.Q507E	p.Q507E	NM_134325	NP_599152	WXS	Illumina GAIIx	Phase_I	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		13	1633	-	Breast(84;0.201)		507					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.1519C>G	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314738	0.60524	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92647	-3.08;-3.06;-3.08	5.62	5.62	0.85841	.	0.137761	0.48286	D	0.000182	D	0.92153	0.7512	M	0.81942	2.565	0.48135	D	0.999591	B;B	0.34015	0.199;0.435	B;B	0.30179	0.061;0.112	D	0.92050	0.5647	10	0.66056	D	0.02	.	18.227	0.89921	0.0:0.0:1.0:0.0	.	507;507	Q7LBE3;B1AVM8	S26A9_HUMAN;.	E	507	ENSP00000341682:Q507E;ENSP00000356103:Q507E;ENSP00000356102:Q507E	ENSP00000341682:Q507E	Q	-	1	0	SLC26A9	204159342	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.456000	0.73501	2.625000	0.88918	0.655000	0.94253	CAG		0.493	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		16	28	0	0	0	1	0	16	28					C	205892719	G	C	205892719	3	2	5	1	0	0	0	0	1	0	0	0	14524	1357	47	4	1184	4	SLC26A9	1	205892719	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	104694621	205892719	43357902	2	109											
APOB	338	broad.mit.edu	37	2	21230694	21230694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:21230694C>A	ENST00000233242.1	-	26	9173	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3016					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTAAACTCTGCCTTCCCT	0.423																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9046-9048)Gag>Tag		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						65	68	67					2																	21230694		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230694C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9046G>T	2.37:g.21230694C>A	ENSP00000233242:p.Glu3016*		Somatic					p.E3016*	NM_000384	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			25	9174	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3016					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.9046G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	50	16.465662	0.99864	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.87	4.95	0.65309	.	0.107337	0.41294	D	0.000910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.8027	0.46497	0.0:0.797:0.1327:0.0703	.	.	.	.	X	3016	.	ENSP00000233242:E3016X	E	-	1	0	APOB	21084199	0.992000	0.36948	0.856000	0.33681	0.927000	0.56198	3.246000	0.51414	2.780000	0.95670	0.655000	0.94253	GAG		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	46	0	0	0	1	0	20	46					A	21230694	C	A	21230694	4	1	5	1	0	0	0	0	0	1	0	0	785	922	32	4	4661	4	APOB	2	21230694	Nonsense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		21230694	221968679	3	110											
PTH2R	5746	broad.mit.edu	37	2	209302540	209302540	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:209302540A>C	ENST00000272847.2	+	4	558	c.345A>C	c.(343-345)ttA>ttC	p.L115F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	115					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGCACAGCTTAAATAAAACAT	0.413																																						uc010zjb.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(376-378)ttA>ttC		Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.							89	87	88					2																	209302540		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302540A>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.345A>C	2.37:g.209302540A>C	ENSP00000272847:p.Leu115Phe		Somatic				PTH2R_uc002vdb.3_Missense_Mutation_p.L115F	p.L126F	NM_005048	NP_005039	WXS	Illumina GAIIx	Phase_I	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	3	664	+			115					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.378A>C	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359310	0.24598	.	.	ENSG00000144407	ENST00000272847	T	0.37915	1.17	5.25	1.47	0.22746	GPCR, family 2, extracellular hormone receptor domain (3);	0.188116	0.25017	N	0.033784	T	0.37320	0.0999	L	0.51422	1.61	0.28412	N	0.918153	P;P	0.45634	0.863;0.844	P;P	0.52267	0.556;0.694	T	0.17440	-1.0369	10	0.32370	T	0.25	.	5.3198	0.15876	0.6867:0.1499:0.1634:0.0	.	4;115	B4DFN8;P49190	.;PTH2R_HUMAN	F	115	ENSP00000272847:L115F	ENSP00000272847:L115F	L	+	3	2	PTH2R	209010785	0.915000	0.31059	0.993000	0.49108	0.780000	0.44128	0.720000	0.25896	0.071000	0.16664	0.383000	0.25322	TTA		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		8	53	0	0	0	1	0	8	53					C	209302540	A	C	209302540	3	2	5	1	0	0	0	0	1	0	0	0	12760	359	13	5	359	5	PTH2R	2	209302540	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	188071846	209302540	33896833	4	111											
DBR1	51163	broad.mit.edu	37	3	137886109	137886109	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr3:137886109C>A	ENST00000260803.4	-	5	681	c.528G>T	c.(526-528)tgG>tgT	p.W176C	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	176					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTCTTGGCCAATCATGAG	0.328																																						uc003erv.3																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(526-528)tgG>tgT		Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.							49	53	52					3																	137886109		2203	4300	6503	SO:0001583	missense	51163					nucleus	RNA lariat debranching enzyme activity|metal ion binding	g.chr3:137886109C>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.528G>T	3.37:g.137886109C>A	ENSP00000260803:p.Trp176Cys		Somatic				DBR1_uc003eru.3_Missense_Mutation_p.W125C	p.W176C	NM_016216	NP_057300	WXS	Illumina GAIIx	Phase_I	Q9UK59	DBR1_HUMAN			4	682	-			176					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.528G>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129842	0.77549	.	.	ENSG00000138231	ENST00000260803	T	0.47528	0.84	5.28	5.28	0.74379	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88022	0.2769	10	0.87932	D	0	-29.0773	16.4145	0.83729	0.0:1.0:0.0:0.0	.	176	Q9UK59	DBR1_HUMAN	C	176	ENSP00000260803:W176C	ENSP00000260803:W176C	W	-	3	0	DBR1	139368799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.467000	0.83353	0.650000	0.86243	TGG		0.328	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			3	34	0	0	0	1	0	3	34					A	137886109	C	A	137886109	3	1	5	1	0	0	0	0	1	0	0	0	4257	740	26	4	1122	4	DBR1	3	137886109	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		137886109	60136321	5	112											
PDZD2	23037	broad.mit.edu	37	5	32087441	32087441	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:32087441C>A	ENST00000438447.1	+	20	4275	c.3887C>A	c.(3886-3888)gCa>gAa	p.A1296E	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1296E			O15018	PDZD2_HUMAN	PDZ domain containing 2	1296					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						GGGGAGAAAGCAGCGGCTCCC	0.652																																						uc003jhl.3																			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.(3886-3888)gCa>gAa		Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.							54	63	60					5																	32087441		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087441C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3887C>A	5.37:g.32087441C>A	ENSP00000402033:p.Ala1296Glu		Somatic				PDZD2_uc003jhm.3_Missense_Mutation_p.A1296E	p.A1296E	NM_178140	NP_835260	WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			19	4275	+			1296					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3887C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791997	0.50102	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08546	3.08;3.08	3.69	2.82	0.32997	.	0.558311	0.14980	N	0.287305	T	0.12135	0.0295	L	0.50333	1.59	0.09310	N	1	D	0.54047	0.964	P	0.50314	0.637	T	0.11348	-1.0591	10	0.40728	T	0.16	.	7.0641	0.25141	0.0:0.8765:0.0:0.1235	.	1296	O15018	PDZD2_HUMAN	E	1296;1097;1296	ENSP00000402033:A1296E;ENSP00000282493:A1296E	ENSP00000282493:A1296E	A	+	2	0	PDZD2	32123198	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.423000	0.21313	1.124000	0.41980	0.655000	0.94253	GCA		0.652	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			26	55	0	0	0	1	0	26	55					A	32087441	C	A	32087441	3	1	5	1	0	0	0	0	1	0	0	0	11701	710	25	4	3961	4	PDZD2	5	32087441	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		32087441	148827819	6	113											
ANKRD43	134548	broad.mit.edu	37	5	132150581	132150581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:132150581delA	ENST00000378693.2	+	1	1549	c.1268delA	c.(1267-1269)tacfs	p.Y423fs	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	423																	CGTCGCGCCTACCAGTACCTG	0.701																																						uc003kxw.3																			0											c.(1267-1269)tacfs		Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.																																				SO:0001589	frameshift_variant	134548							g.chr5:132150581delA	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1268delA	5.37:g.132150581delA	ENSP00000367965:p.Tyr423fs		Somatic					p.Y423fs	NM_175873	NP_787069	WXS	Illumina GAIIx	Phase_I	Q2M3V2	ANR43_HUMAN			0	1549	+			423					Q8NAE7	Frame_Shift_Del	DEL	ENST00000378693.2	37	c.1268delA	CCDS43361.1																																																																																				0.701	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		2	4						2	4	---	---	---	---	-	132150581	A	-	132150581	7	5	5	1	0	1	0	1	0	0	0	0	671	391	14	0	1270	0	ANKRD43	5	132150581	Frame_Shift_Del	DEL	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	100063140	132150581	48764679	7	114											
SPATS1	221409	broad.mit.edu	37	6	44336175	44336175	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:44336175C>T	ENST00000288390.2	+	5	981	c.634C>T	c.(634-636)Cca>Tca	p.P212S	SPATS1_ENST00000323108.8_Missense_Mutation_p.P212S|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	212										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATATATGTACCCAGAACAGAG	0.378																																						uc021yzz.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(634-636)Cca>Tca		Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.							122	118	119					6																	44336175		2203	4300	6503	SO:0001583	missense	221409							g.chr6:44336175C>T	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.634C>T	6.37:g.44336175C>T	ENSP00000424400:p.Pro212Ser		Somatic				TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.P97S|SPATS1_uc003oxk.3_Missense_Mutation_p.P212S	p.P212S	NM_145026	NP_659463	WXS	Illumina GAIIx	Phase_I	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	735	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		212					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.634C>T	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378426	0.61735	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.51817	0.69;0.69	5.11	2.32	0.28847	.	0.128413	0.35262	N	0.003334	T	0.47377	0.1442	M	0.63843	1.955	0.29176	N	0.876792	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.59425	D	0.04	.	7.9125	0.29800	0.0:0.7222:0.0:0.2778	.	212	Q496A3	SPAS1_HUMAN	S	212	ENSP00000437552:P212S;ENSP00000424400:P212S	ENSP00000424400:P212S	P	+	1	0	SPATS1	44444153	0.780000	0.28664	0.995000	0.50966	0.963000	0.63663	0.811000	0.27198	0.662000	0.31006	0.655000	0.94253	CCA		0.378	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		11	47	0	0	0	1	0	11	47					T	44336175	C	T	44336175	3	4	5	1	0	0	0	0	1	0	0	0	15017	623	22	2	652	2	SPATS1	6	44336175	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08		44336175	126778892	8	115											
AIM1	202	broad.mit.edu	37	6	106968615	106968615	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:106968615A>T	ENST00000369066.3	+	2	2795	c.2308A>T	c.(2308-2310)Atg>Ttg	p.M770L		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)		TTTACATTTGATGCAGAACCT	0.453																																						uc003prh.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.(2308-2310)Atg>Ttg		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							78	77	77					6																	106968615		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968615A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2308A>T	6.37:g.106968615A>T	ENSP00000358062:p.Met770Leu		Somatic					p.M770L	NM_001624	NP_001615	WXS	Illumina GAIIx	Phase_I	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	3220	+	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)	770					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2308A>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	9.601	1.128696	0.21041	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.69926	-0.44	5.97	0.564	0.17302	.	0.939589	0.09121	N	0.845727	T	0.23330	0.0564	N	0.16656	0.425	0.58432	D	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.30327	-0.9982	10	0.08599	T	0.76	.	7.905	0.29757	0.4754:0.3177:0.0:0.207	.	770	Q9Y4K1	AIM1_HUMAN	L	1178;770	ENSP00000358062:M770L	ENSP00000285105:M1178L	M	+	1	0	AIM1	107075308	0.996000	0.38824	0.957000	0.39632	0.898000	0.52572	0.524000	0.22940	0.491000	0.27793	0.533000	0.62120	ATG		0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			38	47	0	0	0	1	0	38	47					T	106968615	A	T	106968615	3	4	5	1	0	0	0	0	1	0	0	0	430	333	12	5	2314	5	AIM1	6	106968615	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	62632440	106968615	64146452	9	116											
TAX1BP1	8887	broad.mit.edu	37	7	27856087	27856087	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:27856087T>A	ENST00000396319.2	+	14	1972	c.1884T>A	c.(1882-1884)aaT>aaA	p.N628K	TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.N652K|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	628					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CATTGTCAAATGCACAACCAG	0.378																																						uc003szl.3																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1882-1884)aaT>aaA		Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.							160	156	157					7																	27856087		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856087T>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1884T>A	7.37:g.27856087T>A	ENSP00000379612:p.Asn628Lys		Somatic				TAX1BP1_uc011jzo.2_Intron|TAX1BP1_uc003szk.3_Intron|TAX1BP1_uc011jzp.2_Intron	p.N628K	NM_006024	NP_006015	WXS	Illumina GAIIx	Phase_I	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		13	2066	+			628					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1884T>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	T	0.969	-0.700815	0.03279	.	.	ENSG00000106052	ENST00000409980;ENST00000396319	T;T	0.09073	3.04;3.02	5.84	4.7	0.59300	.	1.179470	0.06322	N	0.704571	T	0.08492	0.0211	L	0.29908	0.895	0.35269	D	0.780269	B	0.02656	0.0	B	0.08055	0.003	T	0.15435	-1.0437	9	.	.	.	0.6194	11.3192	0.49410	0.0:0.0705:0.0:0.9295	.	628	Q86VP1	TAXB1_HUMAN	K	652;628	ENSP00000386515:N652K;ENSP00000379612:N628K	.	N	+	3	2	TAX1BP1	27822612	0.020000	0.18652	0.069000	0.20011	0.582000	0.36321	1.655000	0.37345	2.232000	0.73038	0.533000	0.62120	AAT		0.378	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		37	73	0	0	0	1	0	37	73					A	27856087	T	A	27856087	3	1	5	1	0	0	0	0	1	0	0	0	15591	1461	51	5	1934	5	TAX1BP1	7	27856087	Missense_Mutation	SNP	T	TCGA-BJ-A0Z9-01A-11D-A10S-08		27856087	131282576	10	117											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	44	0	0	0	1	0	20	44					T	140453136	A	T	140453136	3	4	5	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	112597049	140453136	18685527	11	118											
ZNF467	168544	broad.mit.edu	37	7	149463284	149463284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:149463284G>A	ENST00000302017.3	-	5	720	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	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)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCCTCCTGATCTTCGTCC	0.542																																						uc003wgd.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(307-309)Cag>Tag		Homo sapiens zinc finger protein 467 (ZNF467), mRNA.							114	96	102					7																	149463284		2203	4300	6503	SO:0001587	stop_gained	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149463284G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.307C>T	7.37:g.149463284G>A	ENSP00000304769:p.Gln103*		Somatic				ZNF467_uc003wgc.3_Intron	p.Q103*	NM_207336	NP_997219	WXS	Illumina GAIIx	Phase_I	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		4	448	-	Melanoma(164;0.165)|Ovarian(565;0.177)		103						Nonsense_Mutation	SNP	ENST00000302017.3	37	c.307C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	g	38	6.699744	0.97772	.	.	ENSG00000181444	ENST00000302017	.	.	.	4.57	2.44	0.29823	.	0.937050	0.08641	U	0.915489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-6.6904	3.8069	0.08780	0.0928:0.1631:0.5762:0.1679	.	.	.	.	X	103	.	ENSP00000304769:Q103X	Q	-	1	0	ZNF467	149094217	0.001000	0.12720	0.994000	0.49952	0.968000	0.65278	0.889000	0.28282	2.074000	0.62210	0.552000	0.68991	CAG		0.542	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		19	28	0	0	0	1	0	19	28					A	149463284	G	A	149463284	4	1	5	1	0	0	0	0	0	1	0	0	17924	1299	45	2	1484	2	ZNF467	7	149463284	Nonsense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	9010148	149463284	9675379	12	119											
KIAA1967	57805	broad.mit.edu	37	8	22476665	22476665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:22476665G>T	ENST00000308511.4	+	20	2773	c.2524G>T	c.(2524-2526)Gag>Tag	p.E842*	CCAR2_ENST00000389279.3_Nonsense_Mutation_p.E842*|CCAR2_ENST00000520861.1_Nonsense_Mutation_p.E517*|RP11-582J16.5_ENST00000521025.1_RNA|BIN3_ENST00000519335.1_5'Flank			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	842	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)										CCTTGCAGAGGAGAGCCATAA	0.617																																						uc003xch.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(2524-2526)Gag>Tag		Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.							19	19	19					8																	22476665		2200	4299	6499	SO:0001587	stop_gained	57805				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22476665G>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2524G>T	8.37:g.22476665G>T	ENSP00000310670:p.Glu842*		Somatic				KIAA1967_uc003xci.3_Nonsense_Mutation_p.E842*|KIAA1967_uc003xcj.1_Nonsense_Mutation_p.E511*	p.E842*	NM_021174	NP_066997	WXS	Illumina GAIIx	Phase_I	Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	19	2773	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	842					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Nonsense_Mutation	SNP	ENST00000308511.4	37	c.2524G>T	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.624880|10.624880	0.99439|0.99439	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.141007|.	0.48286|.	D|.	0.000185|.	.|T	.|0.69735	.|0.3144	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67233	.|-0.5722	.|4	0.37606|.	T|.	0.19|.	-28.3095|-28.3095	14.2988|14.2988	0.66331|0.66331	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	842;842;517|533	.|.	ENSP00000310670:E842X|.	E|R	+|+	1|3	0|2	KIAA1967|KIAA1967	22532610|22532610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	5.513000|5.513000	0.67037|0.67037	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.617	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		5	15	0	0	0	1	0	5	15					T	22476665	G	T	22476665	4	4	5	1	0	0	0	0	0	1	0	0	8265	1175	41	4	2598	4	KIAA1967	8	22476665	Nonsense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		22476665	123887357	13	120											
PXDNL	137902	broad.mit.edu	37	8	52339273	52339273	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:52339273A>G	ENST00000356297.4	-	13	1671	c.1571T>C	c.(1570-1572)gTt>gCt	p.V524A	PXDNL_ENST00000543296.1_Missense_Mutation_p.V524A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	524	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATTCTTTCCAACCTCGACACT	0.338																																						uc003xqu.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1570-1572)gTt>gCt		Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.							120	107	111					8																	52339273		1859	4108	5967	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52339273A>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1571T>C	8.37:g.52339273A>G	ENSP00000348645:p.Val524Ala		Somatic					p.V524A	NM_144651	NP_653252	WXS	Illumina GAIIx	Phase_I	A1KZ92	PXDNL_HUMAN			12	1672	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	524			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1571T>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.548349	0.00926	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.77358	-1.09;-1.09	4.18	0.309	0.15820	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63651	0.2529	L	0.33339	1.005	0.19300	N	0.999974	B	0.21753	0.06	B	0.29353	0.101	T	0.47861	-0.9084	9	0.15066	T	0.55	.	6.3655	0.21453	0.6669:0.0:0.3331:0.0	.	524	A1KZ92	PXDNL_HUMAN	A	524	ENSP00000348645:V524A;ENSP00000444865:V524A	ENSP00000348645:V524A	V	-	2	0	PXDNL	52501826	0.016000	0.18221	0.040000	0.18447	0.014000	0.08584	-0.085000	0.11250	-0.123000	0.11745	-0.263000	0.10527	GTT		0.338	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	5	0	0	0	1	0	3	5					G	52339273	A	G	52339273	3	3	5	1	0	0	0	0	1	0	0	0	12848	43	2	3	2864	3	PXDNL	8	52339273	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08	29862608	52339273	94024749	14	121											
PLEC	5339	broad.mit.edu	37	8	144994984	144994984	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:144994984C>T	ENST00000322810.4	-	32	9585	c.9416G>A	c.(9415-9417)cGa>cAa	p.R3139Q	PLEC_ENST00000356346.3_Missense_Mutation_p.R2988Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2970Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2980Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R3029Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R3006Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R3025Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R3002Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	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						GCGCTCACCTCGCTGCAGCTG	0.687																																						uc003zaf.1																			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.(9415-9417)cGa>cAa		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							20	24	23					8																	144994984		2057	4163	6220	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.chr8:144994984C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9416G>A	8.37:g.144994984C>T	ENSP00000323856:p.Arg3139Gln		Somatic				PLEC_uc003zab.1_Missense_Mutation_p.R3002Q|PLEC_uc003zac.1_Missense_Mutation_p.R3006Q|PLEC_uc003zad.2_Missense_Mutation_p.R3002Q|PLEC_uc003zae.1_Missense_Mutation_p.R2970Q|PLEC_uc003zag.1_Missense_Mutation_p.R2980Q|PLEC_uc003zah.2_Missense_Mutation_p.R2988Q|PLEC_uc003zaj.2_Missense_Mutation_p.R3029Q	p.R3139Q	NM_201380	NP_958782	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			31	9586	-			3139			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9416G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.521	0.096753	0.08681	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.6	-6.59	0.01830	.	0.750881	0.11464	N	0.561429	T	0.20210	0.0486	N	0.00325	-1.645	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.36672	-0.9738	10	0.10902	T	0.67	.	5.0996	0.14753	0.0987:0.2079:0.0986:0.5948	.	3029;2988;2980;3139;2970;3002;3006;3002	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3002;3006;3002;2970;3139;2980;2988;3029;3025	ENSP00000344848:R3002Q;ENSP00000350277:R3006Q;ENSP00000346602:R3002Q;ENSP00000381756:R2970Q;ENSP00000323856:R3139Q;ENSP00000347044:R2980Q;ENSP00000348702:R2988Q;ENSP00000388180:R3029Q;ENSP00000434583:R3025Q	ENSP00000323856:R3139Q	R	-	2	0	PLEC	145066972	0.040000	0.19996	0.221000	0.23827	0.005000	0.04900	-0.423000	0.07034	-1.800000	0.01247	-1.688000	0.00730	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		19	23	0	0	0	1	0	19	23					T	144994984	C	T	144994984	3	4	5	1	0	0	0	0	1	0	0	0	12052	884	31	1	4642	1	PLEC	8	144994984	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	92655711	144994984	1369038	15	122											
KCNV2	169522	broad.mit.edu	37	9	2718725	2718725	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr9:2718725G>A	ENST00000382082.3	+	1	1224	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	329					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GACCTGAGGCGCTTCGCGCGC	0.672																																						uc003zho.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(985-987)cGc>cAc		Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.							45	51	49					9																	2718725		2203	4297	6500	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718725G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.986G>A	9.37:g.2718725G>A	ENSP00000371514:p.Arg329His		Somatic					p.R329H	NM_133497	NP_598004	WXS	Illumina GAIIx	Phase_I	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	0	1200	+			329					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.986G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039658	0.35989	.	.	ENSG00000168263	ENST00000382082	D	0.97752	-4.52	5.22	4.3	0.51218	Ion transport (1);	0.447666	0.26383	N	0.024684	D	0.94052	0.8094	L	0.37897	1.145	0.50813	D	0.999892	B	0.18166	0.026	B	0.14578	0.011	D	0.90117	0.4196	10	0.44086	T	0.13	.	6.6104	0.22749	0.1519:0.152:0.6962:0.0	.	329	Q8TDN2	KCNV2_HUMAN	H	329	ENSP00000371514:R329H	ENSP00000371514:R329H	R	+	2	0	KCNV2	2708725	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.499000	0.53310	1.156000	0.42514	0.563000	0.77884	CGC		0.672	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		16	37	0	0	0	1	0	16	37					A	2718725	G	A	2718725	3	1	5	1	0	0	0	0	1	0	0	0	8095	1087	38	1	988	1	KCNV2	9	2718725	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		2718725	138494706	16	123											
C11orf70	85016	broad.mit.edu	37	11	101951999	101951999	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:101951999A>C	ENST00000434758.2	+	6	690	c.662A>C	c.(661-663)aAa>aCa	p.K221T	C11orf70_ENST00000526781.1_Missense_Mutation_p.K221T	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	221										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TCTGTCTTTAAAGTTTCAGCT	0.313																																						uc001pgp.3																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(661-663)aAa>aCa		Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.							86	87	87					11																	101951999		2203	4296	6499	SO:0001583	missense	85016							g.chr11:101951999A>C	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.662A>C	11.37:g.101951999A>C	ENSP00000414390:p.Lys221Thr		Somatic				C11orf70_uc001pgq.3_Missense_Mutation_p.K183T	p.K221T	NM_032930	NP_116319	WXS	Illumina GAIIx	Phase_I	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	5	695	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	221					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.662A>C	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655073	0.67472	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	.	0.123303	0.64402	D	0.000001	T	0.70369	0.3216	M	0.81239	2.535	0.80722	D	1	D	0.56746	0.977	P	0.55923	0.787	T	0.75001	-0.3471	9	0.72032	D	0.01	-16.1292	10.3638	0.44010	0.9228:0.0:0.0772:0.0	.	221	Q9BRQ4	CK070_HUMAN	T	221;221;183	.	ENSP00000392150:K183T	K	+	2	0	C11orf70	101457209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.490000	0.60319	2.317000	0.78254	0.460000	0.39030	AAA		0.313	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		10	29	0	0	0	1	0	10	29					C	101951999	A	C	101951999	3	2	5	1	0	0	0	0	1	0	0	0	1659	14	1	5	566	5	C11orf70	11	101951999	Missense_Mutation	SNP	A	TCGA-BJ-A0Z9-01A-11D-A10S-08		101951999	33054517	17	124											
LOC100132247	100132247	broad.mit.edu	37	16	22545452	22545454	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr16:22545452_22545454delATA	ENST00000517539.1	+	8	1223_1225	c.1148_1150delATA	c.(1147-1152)gataat>gat	p.N384del	NPIPB5_ENST00000424340.1_In_Frame_Del_p.N384del|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	384	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCGGATGATAATCTCAAGAC	0.576																																						uc010bxg.3																			0											c.(1147-1152)gataat>gat		Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																																				SO:0001651	inframe_deletion	100132247							g.chr16:22545452_22545454delATA		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1148_1150delATA	16.37:g.22545452_22545454delATA	ENSP00000430633:p.Asn384del		Somatic				LOC100132247_uc010vbv.2_In_Frame_Del_p.N384del|LOC100132247_uc021tew.1_In_Frame_Del_p.N384del|LOC100132247_uc010bxi.3_In_Frame_Del_p.N365del|LOC100132247_uc010bxk.3_In_Frame_Del_p.N201del	p.N384del	NM_001135865	NP_001129337	WXS	Illumina GAIIx	Phase_I					8	1330_1332	+								B4DK13	In_Frame_Del	DEL	ENST00000517539.1	37	c.1148_1150delATA	CCDS45443.1																																																																																				0.576	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	5						3	5	---	---	---	---	-	22545454	ATA	-	22545452	7	5	5	1	0	1	0	1	0	0	0	0	8868	333	12	0	1174	0	LOC100132247	16	22545452	In_Frame_Del	DEL	ATA	TCGA-BJ-A0Z9-01A-11D-A10S-08		22545452	67809301	18	125											
VPS53	55275	broad.mit.edu	37	17	465847	465847	+	Silent	SNP	T	T	C	rs370664941		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr17:465847T>C	ENST00000571805.1	-	14	1588	c.1452A>G	c.(1450-1452)caA>caG	p.Q484Q	VPS53_ENST00000437048.2_Silent_p.Q484Q|VPS53_ENST00000291074.5_Silent_p.Q455Q|VPS53_ENST00000401468.3_Silent_p.Q207Q|VPS53_ENST00000446250.2_Silent_p.Q286Q|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	484					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCTGAGAGCATTGCACCATGC	0.567																																						uc010cjo.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1450-1452)caA>caG		Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	86	79	81		1452,1365	4.1	1.0	17		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS53	NM_001128159.2,NM_018289.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	484/833,455/671	465847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	Golgi apparatus|endosome membrane		g.chr17:465847T>C		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1452A>G	17.37:g.465847T>C			Somatic				VPS53_uc002frk.3_Silent_p.Q3Q|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Silent_p.Q455Q|VPS53_uc002frn.2_Silent_p.Q484Q|VPS53_uc002fro.2_Silent_p.Q286Q|VPS53_uc010cjp.1_Silent_p.Q207Q	p.Q484Q	NM_001128159	NP_001121631	WXS	Illumina GAIIx	Phase_I	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	13	1599	-			484					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.1452A>G																																																																																					0.567	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		6	59	0	0	0	1	0	6	59					C	465847	T	C	465847	2	2	5	1	0	0	0	0	0	0	0	1	17212	1490	52	3		3	VPS53	17	465847	Silent	SNP	T	TCGA-BJ-A0Z9-01A-11D-A10S-08		465847	80729363	19	126											
SIGLEC11	114132	broad.mit.edu	37	19	50455611	50455611	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr19:50455611G>A	ENST00000447370.2	-	9	1782	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Silent_p.A468A|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	564					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGCTCCCAGGGCAGCCCCCA	0.657																																						uc010ybh.2																			0		p.F563F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1690-1692)gcC>gcT		Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.							71	73	72					19																	50455611		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50455611G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"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"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1692C>T	19.37:g.50455611G>A			Somatic				SIGLEC11_uc010ybi.2_Silent_p.A468A	p.A564A	NM_052884	NP_443116	WXS	Illumina GAIIx	Phase_I	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	8	1783	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	564						Silent	SNP	ENST00000447370.2	37	c.1692C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042314	0.07452	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.21	-6.43	0.01926	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30357	-0.9981	4	.	.	.	.	6.4013	0.21640	0.2141:0.5021:0.2838:0.0	.	.	.	.	L	458	.	.	P	-	2	0	SIGLEC11	55147423	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-1.249000	0.02500	-1.474000	0.01003	CCC		0.657	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		27	36	0	0	0	1	0	27	36					A	50455611	G	A	50455611	2	1	5	1	0	0	0	0	0	0	0	1	14307	1219	43	2		2	SIGLEC11	19	50455611	Silent	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		50455611	8673372	20	127											
SEL1L2	80343	broad.mit.edu	37	20	13830243	13830243	+	Missense_Mutation	SNP	G	G	A	rs199650783	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr20:13830243G>A	ENST00000284951.5	-	20	2029	c.1955C>T	c.(1954-1956)aCg>aTg	p.T652M	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.T539M			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	652						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTCCATCTCGTTGTGAACTG	0.483													G|||	4	0.000798722	0.0023	0	5008	,	,		15689	0		0	False		,,,				2504	0.001					uc010gcf.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1954-1956)aCg>aTg		Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.		G	MET/THR	11,3967		0,11,1978	146	146	146		1955	-0.2	0.0	20		146	1,8321		0,1,4160	yes	missense	SEL1L2	NM_025229.1	81	0,12,6138	AA,AG,GG		0.012,0.2765,0.0976	benign	652/689	13830243	12,12288	1989	4161	6150	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830243G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1955C>T	20.37:g.13830243G>A	ENSP00000284951:p.Thr652Met		Somatic				SEL1L2_uc002woq.4_Missense_Mutation_p.T513M|SEL1L2_uc010zrl.2_Missense_Mutation_p.T539M|SEL1L2_uc002wor.3_Non-coding_Transcript	p.T652M	NM_025229	NP_079505	WXS	Illumina GAIIx	Phase_I	Q5TEA6	SE1L2_HUMAN			19	2037	-			652					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1955C>T		.	.	.	.	.	.	.	.	.	.	G	9.017	0.983913	0.18889	0.002765	1.2E-4	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.23147	1.92;2.23	5.17	-0.153	0.13403	.	0.886778	0.09839	N	0.749178	T	0.08582	0.0213	N	0.02802	-0.49	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.06405	0.002;0.0	T	0.28332	-1.0047	10	0.40728	T	0.16	2.6533	1.049	0.01575	0.5163:0.157:0.1751:0.1515	.	539;652	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	539;652	ENSP00000367312:T539M;ENSP00000284951:T652M	ENSP00000284951:T652M	T	-	2	0	SEL1L2	13778243	0.000000	0.05858	0.009000	0.14445	0.901000	0.52897	-0.049000	0.11924	-0.319000	0.08652	-0.266000	0.10368	ACG		0.483	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		11	37	0	0	0	1	0	11	37					A	13830243	G	A	13830243	3	1	5	1	0	0	0	0	1	0	0	0	14011	1145	40	1	115	1	SEL1L2	20	13830243	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		13830243	49195277	21	128											
CXorf65	158830	broad.mit.edu	37	X	70324246	70324246	+	Missense_Mutation	SNP	G	G	A	rs199887066		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:70324246G>A	ENST00000374251.5	-	5	376	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	110										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CATTGTATGCGCAGTGCAACT	0.478																																						uc011mpo.2																			0		p.L109P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.(328-330)Cgc>Tgc		Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.		G	CYS/ARG	0,3835		0,0,0,1632,571	59	44	49		328	2.0	0.9	X		49	2,6726		0,1,1,2427,1871	no	missense	CXorf65	NM_001025265.2	180	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	benign	110/184	70324246	2,10561	2203	4300	6503	SO:0001583	missense	158830							g.chrX:70324246G>A	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.328C>T	X.37:g.70324246G>A	ENSP00000363369:p.Arg110Cys		Somatic				CXorf65_uc011mpp.2_Missense_Mutation_p.R62C	p.R110C	NM_001025265	NP_001020436	WXS	Illumina GAIIx	Phase_I	A6NEN9	CX065_HUMAN			4	560	-			110						Missense_Mutation	SNP	ENST00000374251.5	37	c.328C>T	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789377	0.31685	0.0	2.97E-4	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.58060	0.36;0.48	3.91	1.96	0.26148	.	0.607210	0.16074	N	0.230827	T	0.29321	0.0730	N	0.15975	0.35	0.23673	N	0.997143	B	0.24132	0.098	B	0.18871	0.023	T	0.15235	-1.0444	10	0.56958	D	0.05	-7.1756	3.644	0.08177	0.1354:0.0:0.6223:0.2423	.	110	A6NEN9	CX065_HUMAN	C	110	ENSP00000363369:R110C;ENSP00000411354:R110C	ENSP00000363369:R110C	R	-	1	0	CXorf65	70240971	0.058000	0.20735	0.906000	0.35671	0.377000	0.30045	0.770000	0.26618	0.793000	0.33875	-0.190000	0.12839	CGC		0.478	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		3	16	0	0	0	1	0	3	16					A	70324246	G	A	70324246	3	1	5	1	0	0	0	0	1	0	0	0	4117	1087	38	1	231	1	CXorf65	23	70324246	Missense_Mutation	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08		70324246	84946314	22	129											
ARMCX2	9823	broad.mit.edu	37	X	100911988	100911988	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:100911988C>A	ENST00000328766.5	-	5	1040	c.587G>T	c.(586-588)gGt>gTt	p.G196V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G196V|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G196V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	196	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						TACCCCAGGACCCTCGGTCAC	0.662																																						uc004eid.2																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(586-588)gGt>gTt		Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.							25	24	24					X																	100911988		2194	4276	6470	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911988C>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.587G>T	X.37:g.100911988C>A	ENSP00000331662:p.Gly196Val		Somatic				ARMCX2_uc010nnt.2_Missense_Mutation_p.G196V|ARMCX2_uc004eie.3_Missense_Mutation_p.G196V|ARMCX2_uc004eif.3_Missense_Mutation_p.G196V|ARMCX2_uc004eig.3_Missense_Mutation_p.G196V|ARMCX2_uc022caq.1_Missense_Mutation_p.G196V	p.G196V	NM_177949	NP_808818	WXS	Illumina GAIIx	Phase_I	Q7L311	ARMX2_HUMAN			2	942	-			196			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.587G>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	4.219	0.039510	0.08148	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.30182	1.54;1.54;1.54	3.99	-2.58	0.06228	.	.	.	.	.	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	9	0.28530	T	0.3	.	5.6835	0.17790	0.3583:0.3872:0.2545:0.0	.	196	Q7L311	ARMX2_HUMAN	V	196	ENSP00000331662:G196V;ENSP00000328631:G196V;ENSP00000349281:G196V	ENSP00000331662:G196V	G	-	2	0	ARMCX2	100798644	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.598000	0.05706	-1.007000	0.03408	-1.886000	0.00541	GGT		0.662	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		19	34	0	0	0	1	0	19	34					A	100911988	C	A	100911988	3	1	5	1	0	0	0	0	1	0	0	0	960	507	18	4	1315	4	ARMCX2	23	100911988	Missense_Mutation	SNP	C	TCGA-BJ-A0Z9-01A-11D-A10S-08	30587742	100911988	54358572	23	130											
FLNA	2316	broad.mit.edu	37	X	153593301	153593301	+	Silent	SNP	G	G	A	rs201550267		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:153593301G>A	ENST00000369850.3	-	12	1952	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	FLNA_ENST00000422373.1_Silent_p.T572T|FLNA_ENST00000344736.4_Silent_p.T572T|FLNA_ENST00000360319.4_Silent_p.T572T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	572					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TGCCACACTCGGTGCCCACCT	0.642																																						uc004fkk.2																			0				breast(6)	6						c.(1714-1716)acC>acT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.			,	1,3602		0,1,0,1515,571	89	100	97		1716,1716	-8.6	0.2	X		97	4,6563		0,2,2,2375,1811	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,3,2,3890,2382	AA,AG,A,GG,G		0.0609,0.0278,0.0492	,	572/2648,572/2640	153593301	5,10165	2087	4190	6277	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding	g.chrX:153593301G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1716C>T	X.37:g.153593301G>A			Somatic				FLNA_uc010nuu.1_Silent_p.T572T	p.T572T	NM_001110556	NP_001104026	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			11	1965	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		572					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.1716C>T	CCDS48194.1																																																																																				0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			7	156	0	0	0	1	0	7	156					A	153593301	G	A	153593301	2	1	5	1	0	0	0	0	0	0	0	1	5933	1103	39	1		1	FLNA	23	153593301	Silent	SNP	G	TCGA-BJ-A0Z9-01A-11D-A10S-08	52681313	153593301	1677259	24	131											
SLC25A24	29957	broad.mit.edu	37	1	108697672	108697672	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:108697672C>A	ENST00000565488.1	-	6	974	c.755G>T	c.(754-756)aGg>aTg	p.R252M	SLC25A24_ENST00000370041.4_Missense_Mutation_p.R233M	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	252					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ACCATTTCCCCTCCAAAGCGA	0.388																																						uc001dvn.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(754-756)aGg>aTg		Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							125	117	119					1																	108697672		2203	4300	6503	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108697672C>A	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.755G>T	1.37:g.108697672C>A	ENSP00000457733:p.Arg252Met		Somatic				SLC25A24_uc001dvm.3_Missense_Mutation_p.R233M	p.R252M	NM_013386	NP_037518	WXS	Illumina GAIIx	Phase_I	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	5	969	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	252					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.755G>T	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340783	0.81911	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	D	0.82255	-1.59	5.4	5.4	0.78164	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.955	D	0.96308	0.9226	10	0.87932	D	0	-26.4634	18.1686	0.89737	0.0:1.0:0.0:0.0	.	252;233	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	M	252;233	ENSP00000359058:R233M	ENSP00000264128:R252M	R	-	2	0	SLC25A24	108499195	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.747000	0.85070	2.522000	0.85027	0.484000	0.47621	AGG		0.388	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		4	123	0	0	0	1	0	4	123					A	108697672	C	A	108697672	3	1	6	1	0	0	0	0	1	0	0	0	14487	681	24	4	698	4	SLC25A24	1	108697672	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		108697672	140552949	1	132											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		102	150	0	0	0	1	0	102	150					C	115256529	T	C	115256529	3	2	6	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	6558857	115256529	133994092	2	133											
ATF6	22926	broad.mit.edu	37	1	161816351	161816351	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:161816351A>T	ENST00000367942.3	+	10	1367	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	434					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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AGATGGTATTATCCAGAAAAA	0.413																																						uc001gbs.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1300-1302)Atc>Ttc		Homo sapiens activating transcription factor 6 (ATF6), mRNA.							120	112	115					1																	161816351		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161816351A>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1300A>T	1.37:g.161816351A>T	ENSP00000356919:p.Ile434Phe		Somatic				ATF6_uc001gbq.2_Missense_Mutation_p.I434F	p.I434F	NM_007348	NP_031374	WXS	Illumina GAIIx	Phase_I	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		9	1417	+	all_hematologic(112;0.156)		434					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1300A>T	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496840	0.26861	.	.	ENSG00000118217	ENST00000367942	T	0.14516	2.5	5.1	2.76	0.32466	.	0.606272	0.18578	N	0.137127	T	0.03348	0.0097	L	0.29908	0.895	0.30575	N	0.763061	B;B	0.23735	0.068;0.09	B;B	0.23150	0.044;0.04	T	0.29150	-1.0021	9	0.51188	T	0.08	-9.5825	6.3035	0.21125	0.8031:0.0:0.1969:0.0	.	434;435	P18850;Q59H30	ATF6A_HUMAN;.	F	434	ENSP00000356919:I434F	ENSP00000356919:I434F	I	+	1	0	ATF6	160082975	0.985000	0.35326	0.976000	0.42696	0.477000	0.33069	1.639000	0.37176	0.875000	0.35847	0.443000	0.29094	ATC		0.413	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		4	102	0	0	0	1	0	4	102					T	161816351	A	T	161816351	3	4	6	1	0	0	0	0	1	0	0	0	1084	449	16	5	1338	5	ATF6	1	161816351	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08	46559822	161816351	87434270	3	134											
PROC	5624	broad.mit.edu	37	2	128186036	128186036	+	Missense_Mutation	SNP	C	C	G	rs112356403	byFrequency	TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:128186036C>G	ENST00000234071.3	+	9	987	c.900C>G	c.(898-900)atC>atG	p.I300M	PROC_ENST00000409048.1_Missense_Mutation_p.I334M|PROC_ENST00000453608.2_Missense_Mutation_p.I355M|PROC_ENST00000422777.3_Missense_Mutation_p.I300M	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	300	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAATGACATCGCACTGCTGC	0.632																																						uc010yzi.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1066-1068)atC>atG		Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						119	96	104					2																	128186036		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186036C>G	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.900C>G	2.37:g.128186036C>G	ENSP00000234071:p.Ile300Met		Somatic				PROC_uc002tok.3_Missense_Mutation_p.I300M|PROC_uc002tol.3_Missense_Mutation_p.I321M|PROC_uc010yzj.2_Missense_Mutation_p.I195M|PROC_uc010yzk.2_Missense_Mutation_p.I355M	p.I356M			WXS	Illumina GAIIx	Phase_I	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	7	1095	+	Colorectal(110;0.1)		300			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1068C>G	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.514781|2.514781	0.44763|0.44763	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.95821|.	-3.82;-3.82;-3.82;-3.82|.	5.55|5.55	-1.34|-1.34	0.09143|0.09143	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.44688|.	D|.	0.000421|.	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.91717|0.91717	3.235|3.235	0.49130|0.49130	D|D	0.999753|0.999753	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.996;1.0|.	T|T	0.76299|0.76299	-0.3010|-0.3010	10|5	0.87932|.	D|.	0|.	.|.	8.6615|8.6615	0.34095|0.34095	0.0954:0.4654:0.0:0.4392|0.0954:0.4654:0.0:0.4392	.|.	355;356;334;300|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	M|W	300;259;355;334;300|75	ENSP00000234071:I300M;ENSP00000404030:I355M;ENSP00000386679:I334M;ENSP00000409543:I300M|.	ENSP00000234071:I300M|.	I|S	+|+	3|2	3|0	PROC|PROC	127902506|127902506	0.001000|0.001000	0.12720|0.12720	0.963000|0.963000	0.40424|0.40424	0.489000|0.489000	0.33432|0.33432	-1.407000|-1.407000	0.02488|0.02488	-0.165000|-0.165000	0.10908|0.10908	-0.258000|-0.258000	0.10820|0.10820	ATC|TCG		0.632	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		3	103	0	0	0	1	0	3	103					G	128186036	C	G	128186036	3	3	6	1	0	0	0	0	1	0	0	0	12545	874	31	4	930	4	PROC	2	128186036	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		128186036	115013337	4	135											
ZRANB3	84083	broad.mit.edu	37	2	136026599	136026599	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:136026599A>G	ENST00000264159.6	-	11	1435	c.1319T>C	c.(1318-1320)gTg>gCg	p.V440A	ZRANB3_ENST00000401392.1_Missense_Mutation_p.V440A|ZRANB3_ENST00000536680.1_Missense_Mutation_p.V440A	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	440	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGAATATTCACAGAACTGCA	0.423																																						uc002tum.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1318-1320)gTg>gCg		Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.							196	187	190					2																	136026599		1852	4096	5948	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136026599A>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1319T>C	2.37:g.136026599A>G	ENSP00000264159:p.Val440Ala		Somatic				ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.V440A|ZRANB3_uc002tun.1_3'UTR	p.V440A	NM_032143	NP_115519	WXS	Illumina GAIIx	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	10	1436	-			440			Helicase C-terminal.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1319T>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.873374	0.91664	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.94966	-3.57;-3.57;-3.57	5.55	5.55	0.83447	Helicase, C-terminal (1);	0.057203	0.64402	D	0.000002	D	0.98201	0.9405	H	0.97131	3.945	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.70016	0.853;0.967	D	0.99636	1.0987	10	0.87932	D	0	-14.4179	15.9962	0.80250	1.0:0.0:0.0:0.0	.	440;440	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	A	440	ENSP00000383979:V440A;ENSP00000264159:V440A;ENSP00000441320:V440A	ENSP00000264159:V440A	V	-	2	0	ZRANB3	135743069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.234000	0.73211	0.533000	0.62120	GTG		0.423	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		8	194	0	0	0	1	0	8	194					G	136026599	A	G	136026599	3	3	6	1	0	0	0	0	1	0	0	0	18221	159	6	3	1964	3	ZRANB3	2	136026599	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08	7840563	136026599	107172774	5	136											
LPP	4026	broad.mit.edu	37	3	188584007	188584007	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr3:188584007A>G	ENST00000312675.4	+	9	1676	c.1430A>G	c.(1429-1431)aAt>aGt	p.N477S	LPP_ENST00000543006.1_Missense_Mutation_p.N477S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	477	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCAGTGCAATGTGTGTTCC	0.532			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	uc003frs.2				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1429-1431)aAt>aGt		Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.							159	136	144					3																	188584007		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584007A>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1430A>G	3.37:g.188584007A>G	ENSP00000318089:p.Asn477Ser		Somatic				LPP_uc011bsg.2_Missense_Mutation_p.N330S|LPP_uc011bsi.2_Missense_Mutation_p.N477S|LPP_uc011bsj.2_Missense_Mutation_p.N314S	p.N477S	NM_005578	NP_005569	WXS	Illumina GAIIx	Phase_I	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	8	1676	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	477			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1430A>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	1.428	-0.571121	0.03882	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.86562	-2.14;-2.14	5.76	-0.704	0.11256	Zinc finger, LIM-type (5);	0.397537	0.34156	N	0.004205	T	0.51719	0.1691	N	0.00459	-1.475	0.19575	N	0.999965	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55503	-0.8131	10	0.12103	T	0.63	.	2.6457	0.04983	0.186:0.2775:0.3991:0.1374	.	330;477	B7Z8W0;Q93052	.;LPP_HUMAN	S	477	ENSP00000318089:N477S;ENSP00000438891:N477S	ENSP00000318089:N477S	N	+	2	0	LPP	190066701	0.046000	0.20272	0.045000	0.18777	0.970000	0.65996	0.455000	0.21843	-0.339000	0.08401	0.533000	0.62120	AAT		0.532	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		35	48	0	0	0	1	0	35	48					G	188584007	A	G	188584007	3	3	6	1	0	0	0	0	1	0	0	0	8923	101	4	3	1456	3	LPP	3	188584007	Missense_Mutation	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08		188584007	9438423	6	137											
FBN2	2201	broad.mit.edu	37	5	127637170	127637170	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr5:127637170C>T	ENST00000508053.1	-	53	6924	c.5950G>A	c.(5950-5952)Gtg>Atg	p.V1984M	FBN2_ENST00000262464.4_Missense_Mutation_p.V1984M			P35556	FBN2_HUMAN	fibrillin 2	1984	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTCTGCACACCTGACCAAAA	0.368																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5950-5952)Gtg>Atg		Homo sapiens fibrillin 2 (FBN2), mRNA.							141	140	140					5																	127637170		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127637170C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5950G>A	5.37:g.127637170C>T	ENSP00000424571:p.Val1984Met		Somatic					p.V1984M	NM_001999	NP_001990	WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	46	6389	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1984			EGF-like 33; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5950G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955472	0.73902	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92199	-2.99;-2.99	5.53	4.65	0.58169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000031	D	0.88020	0.6325	L	0.28054	0.825	0.45250	D	0.99825	P	0.43750	0.816	B	0.43809	0.432	D	0.87862	0.2665	10	0.44086	T	0.13	.	14.9671	0.71201	0.0:0.9305:0.0:0.0695	.	1984	P35556	FBN2_HUMAN	M	1984	ENSP00000262464:V1984M;ENSP00000424571:V1984M	ENSP00000262464:V1984M	V	-	1	0	FBN2	127665069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.308000	0.59129	2.879000	0.98667	0.650000	0.86243	GTG		0.368	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		6	134	0	0	0	1	0	6	134					T	127637170	C	T	127637170	3	4	6	1	0	0	0	0	1	0	0	0	5703	507	18	2	2864	2	FBN2	5	127637170	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		127637170	53278090	7	138											
LAMA4	3910	broad.mit.edu	37	6	112462655	112462655	+	Silent	SNP	G	G	A	rs530825191		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr6:112462655G>A	ENST00000230538.7	-	21	3115	c.2718C>T	c.(2716-2718)taC>taT	p.Y906Y	LAMA4_ENST00000389463.4_Silent_p.Y899Y|LAMA4_ENST00000424408.2_Silent_p.Y899Y|LAMA4_ENST00000522006.1_Silent_p.Y899Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	906	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATTATAGACGTATACCAGAT	0.368																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2716-2718)taC>taT		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							101	102	102					6																	112462655		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462655G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2718C>T	6.37:g.112462655G>A			Somatic				LAMA4_uc003pvv.2_Silent_p.Y899Y|LAMA4_uc003pvt.2_Silent_p.Y899Y	p.Y906Y	NM_001105206	NP_001098676	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	3027	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	906			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2718C>T	CCDS43491.1																																																																																				0.368	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		26	62	0	0	0	1	0	26	62					A	112462655	G	A	112462655	2	1	6	1	0	0	0	0	0	0	0	1	8608	1140	40	1		1	LAMA4	6	112462655	Silent	SNP	G	TCGA-BJ-A0ZA-01A-11D-A10S-08		112462655	58652412	8	139											
SRPK2	6733	broad.mit.edu	37	7	104786953	104786953	+	Silent	SNP	A	A	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr7:104786953A>T	ENST00000393651.3	-	8	861	c.774T>A	c.(772-774)ccT>ccA	p.P258P	SRPK2_ENST00000489828.1_Silent_p.P247P|SRPK2_ENST00000357311.3_Silent_p.P247P	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGACCCTGAAGGAGGAGGAG	0.498																																						uc003vcv.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(772-774)ccT>ccA		Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 1, mRNA.							89	70	77					7																	104786953		2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104786953A>T	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.774T>A	7.37:g.104786953A>T			Somatic				SRPK2_uc003vct.3_Silent_p.P247P|SRPK2_uc003vcu.3_Silent_p.P247P|SRPK2_uc003vcw.1_Silent_p.P247P	p.P258P	NM_182692	NP_872634	WXS	Illumina GAIIx	Phase_I	P78362	SRPK2_HUMAN			7	862	-			247			Protein kinase.			Silent	SNP	ENST00000393651.3	37	c.774T>A	CCDS34724.1																																																																																				0.498	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		8	44	0	0	0	1	0	8	44					T	104786953	A	T	104786953	2	4	6	1	0	0	0	0	0	0	0	1	15159	59	3	5		5	SRPK2	7	104786953	Silent	SNP	A	TCGA-BJ-A0ZA-01A-11D-A10S-08		104786953	54351710	9	140											
MAT1A	4143	broad.mit.edu	37	10	82036179	82036179	+	Missense_Mutation	SNP	C	C	T	rs147356286		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr10:82036179C>T	ENST00000372213.3	-	6	981	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	241					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGTGGTAGACGGTGTCTTCG	0.592																																						uc001kbw.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(721-723)Gtc>Atc		Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	111	99	103		721	-0.4	0.8	10	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MAT1A	NM_000429.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	241/396	82036179	3,13003	2203	4300	6503	SO:0001583	missense	4143				S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036179C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.721G>A	10.37:g.82036179C>T	ENSP00000361287:p.Val241Ile		Somatic					p.V241I	NM_000429	NP_000420	WXS	Illumina GAIIx	Phase_I	Q00266	METK1_HUMAN	Colorectal(32;0.229)		5	976	-			241					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.721G>A	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076890	0.07184	2.27E-4	2.33E-4	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.82255	-1.59	4.84	-0.375	0.12509	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.515439	0.23558	N	0.046898	T	0.53254	0.1785	N	0.02658	-0.545	0.42388	D	0.99251	B	0.02656	0.0	B	0.04013	0.001	T	0.48490	-0.9031	10	0.05833	T	0.94	-9.6283	8.9585	0.35832	0.0:0.4239:0.0:0.5761	.	241	Q00266	METK1_HUMAN	I	241	ENSP00000361287:V241I	ENSP00000361280:V241I	V	-	1	0	MAT1A	82026159	0.425000	0.25498	0.816000	0.32577	0.860000	0.49131	-0.036000	0.12185	-0.148000	0.11234	-0.294000	0.09567	GTC		0.592	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		7	131	0	0	0	1	0	7	131					T	82036179	C	T	82036179	3	4	6	1	0	0	0	0	1	0	0	0	9329	536	19	1	482	1	MAT1A	10	82036179	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		82036179	53498568	10	141											
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393960.1_Missense_Mutation_p.A172T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622																																						uc001ojo.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(514-516)Gcc>Acc		Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	Biotin(DB00121)|Pyruvic acid(DB00119)						122	125	124					11																	66638642		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638642C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.514G>A	11.37:g.66638642C>T	ENSP00000377530:p.Ala172Thr		Somatic				PC_uc001ojp.1_Missense_Mutation_p.A172T|PC_uc001ojn.1_Missense_Mutation_p.A172T	p.A172T	NM_001040716	NP_071504	WXS	Illumina GAIIx	Phase_I	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	6	796	-		Melanoma(852;0.0525)	172			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.514G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		12	130	0	0	0	1	0	12	130					T	66638642	C	T	66638642	3	4	6	1	0	0	0	0	1	0	0	0	11497	710	25	2	3090	2	PC	11	66638642	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		66638642	68367874	11	142											
AMOTL1	154810	broad.mit.edu	37	11	94592844	94592844	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:94592844T>G	ENST00000433060.2	+	9	2240	c.2099T>G	c.(2098-2100)tTt>tGt	p.F700C	AMOTL1_ENST00000317829.8_Missense_Mutation_p.F650C|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	700					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATCCGACACTTTGCCATGAAT	0.522																																						uc001pfb.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(2098-2100)tTt>tGt		Homo sapiens angiomotin like 1 (AMOTL1), mRNA.							30	35	33					11																	94592844		2197	4298	6495	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94592844T>G	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2099T>G	11.37:g.94592844T>G	ENSP00000387739:p.Phe700Cys		Somatic				AMOTL1_uc001pfc.3_Missense_Mutation_p.F650C	p.F700C	NM_130847	NP_570899	WXS	Illumina GAIIx	Phase_I	Q8IY63	AMOL1_HUMAN			8	2269	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	700					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2099T>G	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546648	0.65198	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.22539	1.97;1.95	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.62266	1.93	0.80722	D	1	D;D	0.55605	0.972;0.971	D;D	0.67548	0.943;0.952	T	0.25572	-1.0128	10	0.56958	D	0.05	-20.5464	16.6438	0.85155	0.0:0.0:0.0:1.0	.	650;700	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	C	650;700	ENSP00000320968:F650C;ENSP00000387739:F700C	ENSP00000320968:F650C	F	+	2	0	AMOTL1	94232492	1.000000	0.71417	0.974000	0.42286	0.146000	0.21551	7.815000	0.86186	2.333000	0.79357	0.533000	0.62120	TTT		0.522	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		3	21	0	0	0	1	0	3	21					G	94592844	T	G	94592844	3	3	6	1	0	0	0	0	1	0	0	0	583	1841	64	5	2133	5	AMOTL1	11	94592844	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	27954202	94592844	40413672	12	143											
TBX5	6910	broad.mit.edu	37	12	114793765	114793765	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:114793765C>T	ENST00000310346.4	-	9	1795	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	TBX5_ENST00000349716.5_Missense_Mutation_p.A327T|TBX5_ENST00000405440.2_Missense_Mutation_p.A377T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	377					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)		TACATGCAAGCTTGCCGCTGT	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.3																			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.(1129-1131)Gct>Act		Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.							92	80	84					12																	114793765		2203	4300	6503	SO:0001583	missense	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.chr12:114793765C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1129G>A	12.37:g.114793765C>T	ENSP00000309913:p.Ala377Thr		Somatic				TBX5_uc001tvp.3_Missense_Mutation_p.A377T|TBX5_uc001tvq.3_Missense_Mutation_p.A327T	p.A377T	NM_181486	NP_542448	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1624	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		377					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1129G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219195	0.95104	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.49720	0.77;0.77;0.77	5.27	5.27	0.74061	.	0.109140	0.64402	D	0.000007	T	0.71384	0.3333	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72083	-0.4397	10	0.41790	T	0.15	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	377	Q99593	TBX5_HUMAN	T	327;377;274;377	ENSP00000337723:A327T;ENSP00000309913:A377T;ENSP00000384152:A377T	ENSP00000309913:A377T	A	-	1	0	TBX5	113278148	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.463000	0.83235	0.655000	0.94253	GCT		0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		62	89	0	0	0	1	0	62	89					T	114793765	C	T	114793765	3	4	6	1	0	0	0	0	1	0	0	0	15658	797	28	2	431	2	TBX5	12	114793765	Missense_Mutation	SNP	C	TCGA-BJ-A0ZA-01A-11D-A10S-08		114793765	19058130	13	144											
DNAH10	196385	broad.mit.edu	37	12	124408831	124408831	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:124408831T>C	ENST00000409039.3	+	66	11289	c.11264T>C	c.(11263-11265)aTt>aCt	p.I3755T	CCDC92_ENST00000544798.1_5'UTR|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3755					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)		TTAGGAAACATTTCCCTGGAG	0.413																																						uc001uft.4																			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.(11263-11265)aTt>aCt		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							63	63	63					12																	124408831		1855	4116	5971	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124408831T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11264T>C	12.37:g.124408831T>C	ENSP00000386770:p.Ile3755Thr		Somatic				DNAH10_uc001ufu.4_5'Flank	p.I3755T	NM_207437	NP_997320	WXS	Illumina GAIIx	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	65	11289	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3755					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.11264T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891959	0.33442	.	.	ENSG00000197653	ENST00000409039	D	0.86097	-2.07	4.96	4.96	0.65561	.	0.220799	0.39146	N	0.001443	T	0.81064	0.4745	L	0.48174	1.505	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.76664	-0.2876	10	0.35671	T	0.21	.	14.6352	0.68682	0.0:0.0:0.0:1.0	.	3755	Q8IVF4	DYH10_HUMAN	T	3755	ENSP00000386770:I3755T	ENSP00000386770:I3755T	I	+	2	0	DNAH10	122974784	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.676000	0.84012	1.840000	0.53500	0.459000	0.35465	ATT		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	11	0	0	0	1	0	5	11					C	124408831	T	C	124408831	3	2	6	1	0	0	0	0	1	0	0	0	4598	1493	52	3	11526	3	DNAH10	12	124408831	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	9615066	124408831	9443064	14	145											
HS3ST2	9956	broad.mit.edu	37	16	22926609	22926609	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:22926609T>A	ENST00000261374.3	+	2	1264	c.830T>A	c.(829-831)cTc>cAc	p.L277H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	277					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.L277H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGCGAGCGACTCATCACTGAC	0.557																																						uc002dli.3																			1	Substitution - Missense(1)	p.L277H(2)	kidney(1)	breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(829-831)cTc>cAc		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.							102	100	101					16																	22926609		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926609T>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"Sulfotransferases, membrane-bound"	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.830T>A	16.37:g.22926609T>A	ENSP00000261374:p.Leu277His		Somatic					p.L277H	NM_006043	NP_006034	WXS	Illumina GAIIx	Phase_I	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	902	+			277					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.830T>A	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579601	0.86645	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.65178	-0.14	5.21	5.21	0.72293	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86335	0.1701	10	0.87932	D	0	.	14.2988	0.66331	0.0:0.0:0.0:1.0	.	277	Q9Y278	HS3S2_HUMAN	H	277;285	ENSP00000261374:L277H	ENSP00000261374:L277H	L	+	2	0	HS3ST2	22834110	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.040000	0.89188	1.972000	0.57404	0.459000	0.35465	CTC		0.557	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		8	218	0	0	0	1	0	8	218					A	22926609	T	A	22926609	3	1	6	1	0	0	0	0	1	0	0	0	7364	1551	54	5	836	5	HS3ST2	16	22926609	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08		22926609	67428144	15	146											
BBS2	583	broad.mit.edu	37	16	56539933	56539933	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:56539933T>C	ENST00000245157.5	-	7	1153	c.733A>G	c.(733-735)Atg>Gtg	p.M245V	BBS2_ENST00000568104.1_Missense_Mutation_p.M245V|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	245					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGAATGCTCATGGCATGATTT	0.343									Bardet-Biedl syndrome																													uc002ejd.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(733-735)Atg>Gtg		Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.							87	86	86					16																	56539933		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56539933T>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.733A>G	16.37:g.56539933T>C	ENSP00000245157:p.Met245Val		Somatic				BBS2_uc010ccg.2_Missense_Mutation_p.M245V	p.M245V	NM_031885	NP_114091	WXS	Illumina GAIIx	Phase_I	Q9BXC9	BBS2_HUMAN			6	967	-			245					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.733A>G	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	0.154	-1.088251	0.01873	.	.	ENSG00000125124	ENST00000245157	D	0.83992	-1.79	5.7	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.068649	0.85682	N	0.000000	T	0.56978	0.2022	N	0.03294	-0.36	0.51233	D	0.999916	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.52480	-0.8570	10	0.02654	T	1	-8.716	9.591	0.39545	0.0:0.2024:0.0:0.7976	.	245;245	A8K0N9;Q9BXC9	.;BBS2_HUMAN	V	245	ENSP00000245157:M245V	ENSP00000245157:M245V	M	-	1	0	BBS2	55097434	0.996000	0.38824	1.000000	0.80357	0.590000	0.36582	2.063000	0.41423	0.452000	0.26830	-0.250000	0.11733	ATG		0.343	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		4	76	0	0	0	1	0	4	76					C	56539933	T	C	56539933	3	2	6	1	0	0	0	0	1	0	0	0	1338	1464	51	3	1476	3	BBS2	16	56539933	Missense_Mutation	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	33613324	56539933	33814820	16	147											
DHX8	1659	broad.mit.edu	37	17	41570183	41570183	+	Missense_Mutation	SNP	G	G	T	rs559076556		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr17:41570183G>T	ENST00000262415.3	+	6	710	c.638G>T	c.(637-639)cGg>cTg	p.R213L	DHX8_ENST00000540306.1_Missense_Mutation_p.R213L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	213	Arg/Ser-rich (RS domain).				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCCAGGACCCGGGAGAGGAAT	0.547																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(637-639)cGg>cTg		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.							135	142	140					17																	41570183		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	g.chr17:41570183G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.638G>T	17.37:g.41570183G>T	ENSP00000262415:p.Arg213Leu		Somatic				DHX8_uc010wif.1_Missense_Mutation_p.R122L|DHX8_uc010wig.2_Missense_Mutation_p.R213L	p.R213L	NM_004941	NP_004932	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	5	710	+		Breast(137;0.00908)	213			Arg/Ser-rich (RS domain).			Missense_Mutation	SNP	ENST00000262415.3	37	c.638G>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.990002	0.18966	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.61859	0.07;0.07	5.28	2.25	0.28309	.	0.062515	0.64402	D	0.000012	T	0.45377	0.1339	L	0.43923	1.385	0.40007	D	0.975231	B;B	0.19200	0.034;0.02	B;B	0.22753	0.041;0.012	T	0.25502	-1.0130	10	0.32370	T	0.25	.	8.0555	0.30602	0.3097:0.0:0.6903:0.0	.	213;213	F5H658;Q14562	.;DHX8_HUMAN	L	213	ENSP00000437886:R213L;ENSP00000262415:R213L	ENSP00000262415:R213L	R	+	2	0	DHX8	38925709	1.000000	0.71417	0.985000	0.45067	0.015000	0.08874	3.431000	0.52814	0.247000	0.21414	-0.768000	0.03414	CGG		0.547	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			55	161	0	0	0	1	0	55	161					T	41570183	G	T	41570183	3	4	6	1	0	0	0	0	1	0	0	0	4515	1116	39	4	660	4	DHX8	17	41570183	Missense_Mutation	SNP	G	TCGA-BJ-A0ZA-01A-11D-A10S-08		41570183	39625027	17	148											
DSC2	1824	broad.mit.edu	37	18	28662246	28662246	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:28662246T>C	ENST00000280904.6	-	9	1664	c.1221A>G	c.(1219-1221)gtA>gtG	p.V407V	DSC2_ENST00000251081.6_Silent_p.V407V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	407	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGCATCTGTTACAATTTTAA	0.308																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1219-1221)gtA>gtG		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							88	91	90					18																	28662246		2202	4295	6497	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662246T>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1221A>G	18.37:g.28662246T>C			Somatic				DSC2_uc002kwk.4_Silent_p.V407V	p.V407V	NM_024422	NP_077740	WXS	Illumina GAIIx	Phase_I	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		8	1675	-			407			Cadherin 3.			Silent	SNP	ENST00000280904.6	37	c.1221A>G	CCDS11892.1																																																																																				0.308	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		3	98	0	0	0	1	0	3	98					C	28662246	T	C	28662246	2	2	6	1	0	0	0	0	0	0	0	1	4766	1741	61	3		3	DSC2	18	28662246	Silent	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08		28662246	49415002	18	149											
MAPRE2	10982	broad.mit.edu	37	18	32677460	32677460	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:32677460T>C	ENST00000300249.5	+	3	481	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L	MAPRE2_ENST00000436190.2_Silent_p.L89L|MAPRE2_ENST00000589699.1_Silent_p.L58L|MAPRE2_ENST00000588910.1_Silent_p.L101L|MAPRE2_ENST00000538170.2_Silent_p.L48L|MAPRE2_ENST00000413393.1_Silent_p.L58L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	101	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGCATTAGTTTGAAGAAAGT	0.403																																						uc002kyg.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(301-303)Ttg>Ctg		Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.							99	93	95					18																	32677460		2203	4300	6503	SO:0001819	synonymous_variant	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32677460T>C	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.301T>C	18.37:g.32677460T>C			Somatic				MAPRE2_uc010xcb.2_Silent_p.L58L|MAPRE2_uc010xcc.2_Silent_p.L89L|MAPRE2_uc002kyf.2_Silent_p.L101L|MAPRE2_uc002kyh.3_Silent_p.L48L|MAPRE2_uc010xcd.2_Silent_p.L58L	p.L101L	NM_014268	NP_001137298	WXS	Illumina GAIIx	Phase_I	Q15555	MARE2_HUMAN			2	481	+			101			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Silent	SNP	ENST00000300249.5	37	c.301T>C	CCDS11910.1																																																																																				0.403	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		3	92	0	0	0	1	0	3	92					C	32677460	T	C	32677460	2	2	6	1	0	0	0	0	0	0	0	1	9295	1838	64	3		3	MAPRE2	18	32677460	Silent	SNP	T	TCGA-BJ-A0ZA-01A-11D-A10S-08	4015214	32677460	45399788	19	150											
CSF3R	1441	broad.mit.edu	37	1	36937076	36937076	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:36937076C>T	ENST00000373106.1	-	10	1790	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	CSF3R_ENST00000361632.4_Missense_Mutation_p.G415R|CSF3R_ENST00000373103.1_Missense_Mutation_p.G415R|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.G415R|CSF3R_ENST00000373104.1_Missense_Mutation_p.G415R|CSF3R_ENST00000440588.2_Missense_Mutation_p.G415R|CSF3R_ENST00000338937.5_Missense_Mutation_p.G415R|CSF3R_ENST00000418048.2_Missense_Mutation_p.G415R	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	415	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGAGAGGTCCCGGCTGAGTTA	0.592																																						uc001cax.2																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1243-1245)Ggg>Agg		Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA.	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						101	109	106					1																	36937076		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36937076C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1243G>A	1.37:g.36937076C>T	ENSP00000362198:p.Gly415Arg		Somatic				CSF3R_uc001cav.2_Missense_Mutation_p.G415R|CSF3R_uc001caw.2_Missense_Mutation_p.G415R	p.G415R	NM_156039	NP_724781	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			9	1827	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	415			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000373106.1	37	c.1243G>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345319	0.61073	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.3	4.36	0.52297	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.130398	0.27811	N	0.017752	T	0.69744	0.3145	M	0.84585	2.705	0.45378	D	0.998369	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	T	0.73965	-0.3816	10	0.87932	D	0	-13.8365	11.1808	0.48627	0.1837:0.8163:0.0:0.0	.	415;415;415;415	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	R	415	ENSP00000362198:G415R;ENSP00000362196:G415R;ENSP00000362195:G415R;ENSP00000355406:G415R;ENSP00000332180:G415R;ENSP00000401588:G415R;ENSP00000345013:G415R;ENSP00000397568:G415R	ENSP00000332180:G415R	G	-	1	0	CSF3R	36709663	0.987000	0.35691	0.830000	0.32933	0.616000	0.37450	2.893000	0.48633	1.188000	0.43014	0.561000	0.74099	GGG		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		139	180	0	0	0	1	0	139	180					T	36937076	C	T	36937076	3	4	7	1	0	0	0	0	1	0	0	0	3937	652	23	1	1489	1	CSF3R	1	36937076	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		36937076	212313545	1	151											
KIF2C	11004	broad.mit.edu	37	1	45218850	45218850	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218850G>C	ENST00000372224.4	+	6	599	c.486G>C	c.(484-486)ttG>ttC	p.L162F	KIF2C_ENST00000372217.1_Missense_Mutation_p.L108F|KIF2C_ENST00000372222.3_Missense_Mutation_p.L49F|KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	162	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATACCATTGAGGATGGTCA	0.547																																						uc001cmg.4																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(484-486)ttG>ttC		Homo sapiens kinesin family member 2C (KIF2C), mRNA.							167	143	151					1																	45218850		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45218850G>C	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.486G>C	1.37:g.45218850G>C	ENSP00000361298:p.Leu162Phe		Somatic				KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.L49F|KIF2C_uc001cmh.4_Missense_Mutation_p.L108F	p.L162F	NM_006845	NP_006836	WXS	Illumina GAIIx	Phase_I	Q99661	KIF2C_HUMAN			5	601	+	Acute lymphoblastic leukemia(166;0.155)		162			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.486G>C	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	8.684	0.905712	0.17760	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.75367	-0.93;0.82;-0.91;-0.93	5.26	4.34	0.51931	.	0.743599	0.12513	N	0.462294	T	0.62221	0.2410	N	0.22421	0.69	0.30198	N	0.798913	B;B	0.11235	0.003;0.004	B;B	0.13407	0.009;0.005	T	0.60182	-0.7313	10	0.51188	T	0.08	.	11.0786	0.48047	0.0:0.0:0.8153:0.1847	.	108;162	Q99661-2;Q99661	.;KIF2C_HUMAN	F	162;153;49;108	ENSP00000361298:L162F;ENSP00000395050:L153F;ENSP00000361296:L49F;ENSP00000361291:L108F	ENSP00000361291:L108F	L	+	3	2	KIF2C	44991437	0.996000	0.38824	0.998000	0.56505	0.713000	0.41058	2.990000	0.49401	1.430000	0.47334	0.561000	0.74099	TTG		0.547	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		3	135	0	0	0	1	0	3	135					C	45218850	G	C	45218850	3	2	7	1	0	0	0	0	1	0	0	0	8299	1281	45	4	508	4	KIF2C	1	45218850	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	8281774	45218850	204031771	2	152			1	2		2	2	14	G		2.519613e-05
KIF2C	11004	broad.mit.edu	37	1	45218863	45218863	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:45218863G>A	ENST00000372224.4	+	6	612	c.499G>A	c.(499-501)Gag>Aag	p.E167K	KIF2C_ENST00000372217.1_Missense_Mutation_p.E113K|KIF2C_ENST00000372222.3_Missense_Mutation_p.E54K|KIF2C_ENST00000372218.4_Intron|KIF2C_ENST00000493027.1_Intron	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	167	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GATGGTCAGCGAGGAGATGGA	0.532																																						uc001cmg.4																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(499-501)Gag>Aag		Homo sapiens kinesin family member 2C (KIF2C), mRNA.							181	152	162					1																	45218863		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45218863G>A	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.499G>A	1.37:g.45218863G>A	ENSP00000361298:p.Glu167Lys		Somatic				KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.E54K|KIF2C_uc001cmh.4_Missense_Mutation_p.E113K	p.E167K	NM_006845	NP_006836	WXS	Illumina GAIIx	Phase_I	Q99661	KIF2C_HUMAN			5	614	+	Acute lymphoblastic leukemia(166;0.155)		167			Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.499G>A	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	13.38	2.218800	0.39201	.	.	ENSG00000142945	ENST00000372224;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T	0.74632	-0.82;1.01;-0.86;-0.85	5.26	3.41	0.39046	.	0.687289	0.13786	N	0.362853	T	0.52092	0.1713	N	0.14661	0.345	0.36991	D	0.894765	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.42447	-0.9451	10	0.08837	T	0.75	.	7.7959	0.29148	0.1853:0.0:0.8147:0.0	.	113;167	Q99661-2;Q99661	.;KIF2C_HUMAN	K	167;158;54;113	ENSP00000361298:E167K;ENSP00000395050:E158K;ENSP00000361296:E54K;ENSP00000361291:E113K	ENSP00000361291:E113K	E	+	1	0	KIF2C	44991450	0.997000	0.39634	1.000000	0.80357	0.805000	0.45488	1.050000	0.30404	0.818000	0.34468	0.561000	0.74099	GAG		0.532	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		4	130	0	0	0	1	0	4	130					A	45218863	G	A	45218863	3	1	7	1	0	0	0	0	1	0	0	0	8299	1059	37	1	521	1	KIF2C	1	45218863	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	13	45218863	204031758	3	153			1	2		2	2	14	G		2.519613e-05
ARHGAP29	9411	broad.mit.edu	37	1	94639989	94639989	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:94639989C>T	ENST00000260526.6	-	23	3404	c.3222G>A	c.(3220-3222)caG>caA	p.Q1074Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1074					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGTTTGCTGGTCAAAGC	0.388																																						uc001dqj.4																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3220-3222)caG>caA		Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.							152	148	149					1																	94639989		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	g.chr1:94639989C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3222G>A	1.37:g.94639989C>T			Somatic				ARHGAP29_uc009wdq.1_Intron	p.Q1074Q	NM_004815	NP_004806	WXS	Illumina GAIIx	Phase_I	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	22	3591	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1074					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.3222G>A	CCDS748.1																																																																																				0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		5	226	0	0	0	1	0	5	226					T	94639989	C	T	94639989	2	4	7	1	0	0	0	0	0	0	0	1	878	796	28	2		2	ARHGAP29	1	94639989	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	49421126	94639989	154610632	4	154											
ADAMTSL4	54507	broad.mit.edu	37	1	150531845	150531845	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:150531845C>A	ENST00000369038.2	+	15	3047	c.2846C>A	c.(2845-2847)tCt>tAt	p.S949Y	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S972Y|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S949Y|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	949	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AACGTGACTTCTCCGAGCAAC	0.612											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wlw.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2914-2916)tCt>tAt		Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.							125	93	104					1																	150531845		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150531845C>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2846C>A	1.37:g.150531845C>A	ENSP00000358034:p.Ser949Tyr		Somatic	OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_uc001eux.3_Missense_Mutation_p.S949Y|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.S910Y|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.S112Y	p.S972Y	NM_019032	NP_061905	WXS	Illumina GAIIx	Phase_I	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		16	3073	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		949			TSP type-1 6.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2915C>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418645	0.42918	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.61980	0.06;0.06;0.06	5.52	4.59	0.56863	.	.	.	.	.	T	0.54175	0.1842	L	0.38838	1.175	0.09310	N	1	D;D;D	0.67145	0.996;0.98;0.991	D;P;P	0.63381	0.914;0.844;0.837	T	0.48896	-0.8994	9	0.59425	D	0.04	.	7.6566	0.28379	0.1609:0.7536:0.0:0.0855	.	910;972;949	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	Y	949;972;949	ENSP00000271643:S949Y;ENSP00000358035:S972Y;ENSP00000358034:S949Y	ENSP00000271643:S949Y	S	+	2	0	ADAMTSL4	148798469	0.006000	0.16342	0.976000	0.42696	0.269000	0.26545	2.049000	0.41288	2.584000	0.87258	0.462000	0.41574	TCT		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		75	95	0	0	0	1	0	75	95					A	150531845	C	A	150531845	3	1	7	1	0	0	0	0	1	0	0	0	277	913	32	4	2979	4	ADAMTSL4	1	150531845	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	55891856	150531845	98718776	5	155											
NES	10763	broad.mit.edu	37	1	156641203	156641203	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:156641203C>T	ENST00000368223.3	-	4	2909	c.2777G>A	c.(2776-2778)gGa>gAa	p.G926E		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	926	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGGTACTCTCCCTTTCCCAG	0.527																																						uc001fpq.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2776-2778)gGa>gAa		Homo sapiens nestin (NES), mRNA.							137	151	146					1																	156641203		2203	4300	6503	SO:0001583	missense	10763				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641203C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2777G>A	1.37:g.156641203C>T	ENSP00000357206:p.Gly926Glu		Somatic				NES_uc021pbh.1_5'Flank	p.G926E	NM_006617	NP_006608	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			3	2910	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		926			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2777G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	8.650	0.897930	0.17686	.	.	ENSG00000132688	ENST00000368223	D	0.83163	-1.69	5.25	-10.1	0.00402	.	.	.	.	.	T	0.36386	0.0965	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16897	-1.0387	9	0.17832	T	0.49	.	5.0833	0.14668	0.0855:0.1734:0.1709:0.5702	.	926	P48681	NEST_HUMAN	E	926	ENSP00000357206:G926E	ENSP00000357206:G926E	G	-	2	0	NES	154907827	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.488000	0.00977	-2.110000	0.00837	-0.253000	0.11424	GGA		0.527	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		6	246	0	0	0	1	0	6	246					T	156641203	C	T	156641203	3	4	7	1	0	0	0	0	1	0	0	0	10337	855	30	2	2092	2	NES	1	156641203	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	6109358	156641203	92609418	6	156											
CACNA1E	777	broad.mit.edu	37	1	181731728	181731728	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:181731728T>C	ENST00000367573.2	+	33	4624	c.4624T>C	c.(4624-4626)Tgg>Cgg	p.W1542R	CACNA1E_ENST00000526775.1_Missense_Mutation_p.W1523R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.W1474R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.W1493R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.W1149R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.W1542R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.W1523R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1542					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGACACCTGGAATATCTT	0.363																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4624-4626)Tgg>Cgg		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							95	84	88					1																	181731728		1870	4107	5977	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181731728T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4624T>C	1.37:g.181731728T>C	ENSP00000356545:p.Trp1542Arg		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.W1542R|CACNA1E_uc009wxs.3_Missense_Mutation_p.W1523R|CACNA1E_uc001gox.1_Missense_Mutation_p.W768R	p.W1542R	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			32	4819	+			1542					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4624T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090197	0.76756	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	5.76	4.59	0.56863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.914	D	0.98252	1.0494	10	0.87932	D	0	.	12.8118	0.57643	0.0:0.0:0.1361:0.8639	.	1523;1542;1542	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1542;1523;1493;1474;1149;1523;1542	ENSP00000356542:W1542R;ENSP00000434814:W1523R;ENSP00000350183:W1493R;ENSP00000351101:W1474R;ENSP00000356539:W1149R;ENSP00000353222:W1523R;ENSP00000356545:W1542R	ENSP00000350183:W1493R	W	+	1	0	CACNA1E	179998351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.200000	0.70718	0.482000	0.46254	TGG		0.363	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	45	0	0	0	1	0	11	45					C	181731728	T	C	181731728	3	2	7	1	0	0	0	0	1	0	0	0	2542	1580	55	3	4754	3	CACNA1E	1	181731728	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	25090525	181731728	67518893	7	157											
ELF3	1999	broad.mit.edu	37	1	201981484	201981484	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:201981484C>T	ENST00000359651.3	+	3	3590	c.398C>T	c.(397-399)tCt>tTt	p.S133F	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.S133F|ELF3_ENST00000367283.3_Missense_Mutation_p.S133F|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTC	0.582																																						uc001gxg.4																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(397-399)tCt>tTt		Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.							70	76	74					1																	201981484		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981484C>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.398C>T	1.37:g.201981484C>T	ENSP00000352673:p.Ser133Phe		Somatic				ELF3_uc001gxi.4_Missense_Mutation_p.S133F|ELF3_uc001gxh.4_Missense_Mutation_p.S133F	p.S133F	NM_004433	NP_004424	WXS	Illumina GAIIx	Phase_I	P78545	ELF3_HUMAN			2	3590	+			133						Missense_Mutation	SNP	ENST00000359651.3	37	c.398C>T	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356067	0.61293	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.52526	2.38;2.38;2.38;0.66	5.4	4.48	0.54585	Sterile alpha motif/pointed domain (1);	5.936500	0.00508	N	0.000165	T	0.59211	0.2177	L	0.50333	1.59	0.22305	N	0.999218	D	0.57257	0.979	P	0.53722	0.733	T	0.49818	-0.8899	10	0.15952	T	0.53	.	13.8186	0.63308	0.1533:0.8467:0.0:0.0	.	133	P78545	ELF3_HUMAN	F	133;133;133;133;131	ENSP00000352673:S133F;ENSP00000356253:S133F;ENSP00000356252:S133F;ENSP00000405162:S131F	ENSP00000311348:S133F	S	+	2	0	ELF3	200248107	0.010000	0.17322	0.021000	0.16686	0.139000	0.21198	1.510000	0.35790	1.262000	0.44165	-0.188000	0.12872	TCT		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		4	112	0	0	0	1	0	4	112					T	201981484	C	T	201981484	3	4	7	1	0	0	0	0	1	0	0	0	5055	913	32	2	408	2	ELF3	1	201981484	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	20249756	201981484	47269137	8	158											
HHIPL2	79802	broad.mit.edu	37	1	222717148	222717148	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr1:222717148G>A	ENST00000343410.6	-	2	763	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	235					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTACCTGCTCGGCAACAAAGA	0.622																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(703-705)gcC>gcT		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							72	65	68					1																	222717148		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717148G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.705C>T	1.37:g.222717148G>A			Somatic					p.A235A	NM_024746	NP_079022	WXS	Illumina GAIIx	Phase_I	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	763	-			235					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.705C>T	CCDS1530.2																																																																																				0.622	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		10	86	0	0	0	1	0	10	86					A	222717148	G	A	222717148	2	1	7	1	0	0	0	0	0	0	0	1	7094	1103	39	1		1	HHIPL2	1	222717148	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	20735664	222717148	26533473	9	159											
CD207	50489	broad.mit.edu	37	2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572																																						uc002shg.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(805-807)gAc>gGc		Homo sapiens CD207 molecule, langerin (CD207), mRNA.							127	137	134					2																	71058862		2051	4192	6243	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058862T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.806A>G	2.37:g.71058862T>C	ENSP00000386378:p.Asp269Gly		Somatic					p.D269G	NM_015717	NP_056532	WXS	Illumina GAIIx	Phase_I	Q9UJ71	CLC4K_HUMAN			4	853	-			269			C-type lectin.			Missense_Mutation	SNP	ENST00000410009.3	37	c.806A>G		.	.	.	.	.	.	.	.	.	.	T	0.278	-0.988373	0.02162	.	.	ENSG00000116031	ENST00000410009	T	0.07021	3.23	4.78	-0.708	0.11241	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.204330	0.06002	N	0.648005	T	0.01835	0.0058	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43621	-0.9380	10	0.02654	T	1	.	7.4699	0.27342	0.0:0.5137:0.0:0.4862	.	269	Q9UJ71	CLC4K_HUMAN	G	269	ENSP00000386378:D269G	ENSP00000386378:D269G	D	-	2	0	CD207	70912370	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.242000	0.18087	0.008000	0.14787	0.523000	0.50628	GAC		0.572	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		5	125	0	0	0	1	0	5	125					C	71058862	T	C	71058862	3	2	7	1	0	0	0	0	1	0	0	0	2983	1667	58	3	188	3	CD207	2	71058862	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		71058862	172140511	10	160											
TTN	7273	broad.mit.edu	37	2	179408637	179408637	+	Silent	SNP	G	G	A	rs376532382		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:179408637G>A	ENST00000591111.1	-	296	91535	c.91311C>T	c.(91309-91311)taC>taT	p.Y30437Y	TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y23205Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Y32078Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Y23138Y|TTN_ENST00000460472.2_Silent_p.Y23013Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.Y29510Y|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30437	Ig-like 137.				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)			TTCCAGCATCGTACCGATTAA	0.413																																						uc021vsy.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.(88528-88530)taC>taT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	0,3854		0,0,1927	174	159	164		69039,88530,69414,69615	-7.1	0.9	2		164	1,8279		0,1,4139	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6066	AA,AG,GG		0.0121,0.0,0.0082	,,,	23013/26927,29510/33424,23138/27052,23205/27119	179408637	1,12133	1927	4140	6067	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408637G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91311C>T	2.37:g.179408637G>A			Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y23205Y|TTN_uc021vta.1_Silent_p.Y23138Y|TTN_uc021vtb.1_Silent_p.Y23013Y	p.Y29510Y	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		294	88755	-			30437			Fibronectin type-III 115.		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.88530C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	74	0	0	0	1	0	44	74					A	179408637	G	A	179408637	2	1	7	1	0	0	0	0	0	0	0	1	16732	1140	40	1		1	TTN	2	179408637	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	108349775	179408637	63790736	11	161											
HTR2B	3357	broad.mit.edu	37	2	231973299	231973299	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr2:231973299G>C	ENST00000258400.3	-	4	1890	c.1378C>G	c.(1378-1380)Cta>Gta	p.L460V	PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	460					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)	GTATCTAGTAGAATGATTGAT	0.393																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1378-1380)Cta>Gta		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						93	87	89					2																	231973299		2203	4300	6503	SO:0001583	missense	3357				ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|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	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr2:231973299G>C		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1378C>G	2.37:g.231973299G>C	ENSP00000258400:p.Leu460Val		Somatic				PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Missense_Mutation_p.L393V	p.L460V	NM_000867	NP_000858	WXS	Illumina GAIIx	Phase_I	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	3	1883	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	460					B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1378C>G	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599835	0.28534	.	.	ENSG00000135914	ENST00000258400	T	0.60299	0.2	5.9	4.06	0.47325	.	0.202447	0.42964	D	0.000624	T	0.45657	0.1353	L	0.53249	1.67	0.39758	D	0.971984	P;P	0.42409	0.779;0.635	B;B	0.36766	0.232;0.14	T	0.41484	-0.9506	10	0.16896	T	0.51	.	9.3261	0.37993	0.2249:0.0:0.7751:0.0	.	275;460	B3VRC5;P41595	.;5HT2B_HUMAN	V	460	ENSP00000258400:L460V	ENSP00000258400:L460V	L	-	1	2	HTR2B	231681543	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.345000	0.19979	1.462000	0.47948	0.650000	0.86243	CTA		0.393	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		3	72	0	0	0	1	0	3	72					C	231973299	G	C	231973299	3	2	7	1	0	0	0	0	1	0	0	0	7442	933	33	4	71	4	HTR2B	2	231973299	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	52564662	231973299	11226074	12	162											
FANCD2	2177	broad.mit.edu	37	3	10091163	10091163	+	Missense_Mutation	SNP	A	A	G	rs376708399		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:10091163A>G	ENST00000419585.1	+	17	1680	c.1519A>G	c.(1519-1521)Atg>Gtg	p.M507V	FANCD2_ENST00000383807.1_Missense_Mutation_p.M507V|FANCD2_ENST00000287647.3_Missense_Mutation_p.M507V|FANCD2_ENST00000383806.1_Missense_Mutation_p.M507V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	507					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)		CCCATCTGCTATGATGATGAA	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			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.(1519-1521)Atg>Gtg	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.		A	VAL/MET,VAL/MET	0,4402		0,0,2201	210	226	221		1519,1519	3.2	1.0	3		221	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	FANCD2	NM_001018115.1,NM_033084.3	21,21	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	507/1452,507/1472	10091163	1,12999	2201	4299	6500	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10091163A>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1519A>G	3.37:g.10091163A>G	ENSP00000398754:p.Met507Val		Somatic				FANCD2_uc003bux.1_Missense_Mutation_p.M507V|FANCD2_uc003buy.1_Missense_Mutation_p.M507V|FANCD2_uc010hcw.1_Non-coding_Transcript	p.M507V	NM_033084	NP_149075	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	16	1597	+			507					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1519A>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516647	0.27123	0.0	1.16E-4	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.59	3.19	0.36642	.	0.205916	0.64402	N	0.000019	T	0.33411	0.0862	L	0.41710	1.295	0.31299	N	0.688489	B;B	0.20780	0.012;0.048	B;B	0.21360	0.034;0.034	T	0.27400	-1.0075	10	0.19590	T	0.45	.	7.3634	0.26760	0.7507:0.0:0.2493:0.0	.	507;507	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	V	507	ENSP00000287647:M507V;ENSP00000373318:M507V;ENSP00000373317:M507V;ENSP00000398754:M507V	ENSP00000287647:M507V	M	+	1	0	FANCD2	10066163	0.925000	0.31364	0.991000	0.47740	0.839000	0.47603	1.388000	0.34442	0.992000	0.38840	0.472000	0.43445	ATG		0.418	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	258	0	0	0	1	0	6	258					G	10091163	A	G	10091163	3	3	7	1	0	0	0	0	1	0	0	0	5665	449	16	3	1581	3	FANCD2	3	10091163	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08		10091163	187931267	13	163											
CAMKV	79012	broad.mit.edu	37	3	49899480	49899480	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:49899480C>T	ENST00000477224.1	-	3	703	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000463537.1_Silent_p.K75K|CAMKV_ENST00000466940.1_Silent_p.K75K|CAMKV_ENST00000488336.1_Silent_p.K75K|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000296471.7_Silent_p.K75K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAACTCACATCTTGAGGATGC	0.597																																						uc003cxt.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(223-225)aaG>aaA		Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.							61	65	64					3																	49899480		2203	4300	6503	SO:0001819	synonymous_variant	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899480C>T	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.225G>A	3.37:g.49899480C>T			Somatic				CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Silent_p.K75K|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.K75K|CAMKV_uc011bcz.1_Intron|CAMKV_uc011bda.1_Silent_p.K75K|CAMKV_uc011bdb.1_Non-coding_Transcript	p.K75K	NM_024046	NP_076951	WXS	Illumina GAIIx	Phase_I	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	418	-			75			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	c.225G>A	CCDS33762.1																																																																																				0.597	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		4	48	0	0	0	1	0	4	48					T	49899480	C	T	49899480	2	4	7	1	0	0	0	0	0	0	0	1	2608	912	32	2		2	CAMKV	3	49899480	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	39808317	49899480	148122950	14	164											
TOPBP1	11073	broad.mit.edu	37	3	133329896	133329896	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:133329896C>G	ENST00000260810.5	-	25	4256	c.4125G>C	c.(4123-4125)atG>atC	p.M1375I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1375					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTCTCCATCTCATTGCTGCAA	0.353								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(4123-4125)atG>atC	Other conserved DNA damage response genes	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.							222	217	219					3																	133329896		1881	4105	5986	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133329896C>G	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4125G>C	3.37:g.133329896C>G	ENSP00000260810:p.Met1375Ile		Somatic					p.M1375I	NM_007027	NP_008958	WXS	Illumina GAIIx	Phase_I	Q92547	TOPB1_HUMAN			24	4257	-			1375					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.4125G>C	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491816	0.64074	.	.	ENSG00000163781	ENST00000260810	T	0.12255	2.7	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.53249	1.67	0.80722	D	1	B	0.29115	0.233	B	0.20577	0.03	T	0.02313	-1.1178	10	0.35671	T	0.21	.	18.8928	0.92412	0.0:1.0:0.0:0.0	.	1375	Q92547	TOPB1_HUMAN	I	1375	ENSP00000260810:M1375I	ENSP00000260810:M1375I	M	-	3	0	TOPBP1	134812586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.939000	0.56591	2.466000	0.83321	0.591000	0.81541	ATG		0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		8	167	0	0	0	1	0	8	167					G	133329896	C	G	133329896	3	3	7	1	0	0	0	0	1	0	0	0	16366	826	29	4	459	4	TOPBP1	3	133329896	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	83430416	133329896	64692534	15	165											
AMOTL2	51421	broad.mit.edu	37	3	134089564	134089564	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:134089564G>A	ENST00000422605.2	-	2	878	c.712C>T	c.(712-714)Cac>Tac	p.H238Y	AMOTL2_ENST00000249883.5_Missense_Mutation_p.H238Y|AMOTL2_ENST00000514516.1_Missense_Mutation_p.H296Y|AMOTL2_ENST00000513145.1_Missense_Mutation_p.H238Y|AMOTL2_ENST00000511759.1_Intron			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	238					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						TGCTGGAAGTGCGGGCTGCCG	0.587																																						uc003eqf.2																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(886-888)Cac>Tac		Homo sapiens angiomotin like 2 (AMOTL2), mRNA.							50	43	45					3																	134089564		2199	4297	6496	SO:0001583	missense	51421							g.chr3:134089564G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.712C>T	3.37:g.134089564G>A	ENSP00000409999:p.His238Tyr		Somatic				AMOTL2_uc003eqg.1_Missense_Mutation_p.H238Y|AMOTL2_uc003eqh.1_Missense_Mutation_p.H238Y	p.H296Y	NM_016201	NP_057285	WXS	Illumina GAIIx	Phase_I	Q9Y2J4	AMOL2_HUMAN			1	1003	-			238					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	G	13.31	2.199017	0.38806	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.69	2.69	0.31865	.	0.744361	0.13009	N	0.421055	T	0.13457	0.0326	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.16689	-1.0394	10	0.42905	T	0.14	-26.6143	5.4618	0.16622	0.2131:0.3074:0.4795:0.0	.	238;238;296	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	Y	238;238;296;238	ENSP00000249883:H238Y;ENSP00000409999:H238Y;ENSP00000424765:H296Y;ENSP00000425475:H238Y	ENSP00000249883:H238Y	H	-	1	0	AMOTL2	135572254	0.981000	0.34729	0.597000	0.28824	0.622000	0.37654	2.767000	0.47637	1.082000	0.41137	0.455000	0.32223	CAC		0.587	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		6	85	0	0	0	1	0	6	85					A	134089564	G	A	134089564	3	1	7	1	0	0	0	0	1	0	0	0	584	1319	46	2	1666	2	AMOTL2	3	134089564	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	759668	134089564	63932866	16	166											
ATR	545	broad.mit.edu	37	3	142268516	142268516	+	Splice_Site	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:142268516C>G	ENST00000350721.4	-	15	3098		c.e15-1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAATGTCCTCTGAAAAAGAA	0.343								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.e15-1	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							43	44	43					3																	142268516		2203	4299	6502	SO:0001630	splice_region_variant	545				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268516C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2977-1G>C	3.37:g.142268516C>G			Somatic					p.R993_splice	NM_001184	NP_001175	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			15	3099	-			993					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37	c.2977_splice	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579462	0.86645	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7702	0.88489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143751206	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.317000	0.79018	2.635000	0.89317	0.655000	0.94253	.		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron	3	49	0	0	0	1	0	3	49					G	142268516	C	G	142268516	5	3	7	1	0	0	0	0	0	0	1	0	1204	927	32	4	5090	4	ATR	3	142268516	Splice_Site	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	8178952	142268516	55753914	17	167											
PLCH1	23007	broad.mit.edu	37	3	155200705	155200705	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:155200705G>C	ENST00000340059.7	-	23	3133	c.3134C>G	c.(3133-3135)tCt>tGt	p.S1045C	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1007C|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1007C|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1007C|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1045					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGGCAGTAGATACAATGGT	0.463																																						uc021xge.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3133-3135)tCt>tGt		Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.							163	158	159					3																	155200705		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200705G>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3134C>G	3.37:g.155200705G>C	ENSP00000345988:p.Ser1045Cys		Somatic				PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1007C	p.S1045C	NM_001130960	NP_001124432	WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3411	-			1045					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3134C>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250529	0.22880	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.23950	1.88;1.89;1.88;1.88	5.57	2.79	0.32731	.	1.277270	0.05124	N	0.491303	T	0.19287	0.0463	N	0.20986	0.625	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.27938	-1.0059	10	0.48119	T	0.1	.	6.6716	0.23072	0.1561:0.1461:0.6977:0.0	.	1007;1045	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1007;1045;1007;1007	ENSP00000417502:S1007C;ENSP00000345988:S1045C;ENSP00000335469:S1007C;ENSP00000412977:S1007C	ENSP00000335469:S1007C	S	-	2	0	PLCH1	156683399	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.382000	0.20635	0.300000	0.22699	-0.229000	0.12294	TCT		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		3	177	0	0	0	1	0	3	177					C	155200705	G	C	155200705	3	2	7	1	0	0	0	0	1	0	0	0	12037	942	33	4	1951	4	PLCH1	3	155200705	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	12932189	155200705	42821725	18	168											
TTC14	151613	broad.mit.edu	37	3	180328136	180328136	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr3:180328136A>G	ENST00000296015.4	+	12	2251	c.2119A>G	c.(2119-2121)Aca>Gca	p.T707A	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	707							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCGTTTAAATACAAATCAAGG	0.378																																						uc003fkk.3																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(2119-2121)Aca>Gca		Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.							78	82	81					3																	180328136		2203	4299	6502	SO:0001583	missense	151613						RNA binding	g.chr3:180328136A>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2119A>G	3.37:g.180328136A>G	ENSP00000296015:p.Thr707Ala		Somatic				TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron	p.T707A	NM_133462	NP_597719	WXS	Illumina GAIIx	Phase_I	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		11	2251	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		707					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.2119A>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	9.764	1.170757	0.21621	.	.	ENSG00000163728	ENST00000296015	T	0.42513	0.97	6.04	-0.643	0.11482	.	0.387849	0.26089	N	0.026417	T	0.26268	0.0641	N	0.24115	0.695	0.23519	N	0.997509	P	0.43231	0.801	B	0.43990	0.438	T	0.13045	-1.0524	10	0.40728	T	0.16	-5.3662	5.6656	0.17693	0.5534:0.0:0.3275:0.1191	.	707	Q96N46	TTC14_HUMAN	A	707	ENSP00000296015:T707A	ENSP00000296015:T707A	T	+	1	0	TTC14	181810830	0.973000	0.33851	0.911000	0.35937	0.947000	0.59692	1.113000	0.31184	0.196000	0.20367	0.460000	0.39030	ACA		0.378	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		3	101	0	0	0	1	0	3	101					G	180328136	A	G	180328136	3	3	7	1	0	0	0	0	1	0	0	0	16678	391	14	3	2195	3	TTC14	3	180328136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	25127431	180328136	17694294	19	169											
GRID2	2895	broad.mit.edu	37	4	94693647	94693647	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:94693647T>C	ENST00000282020.4	+	16	3280	c.3022T>C	c.(3022-3024)Tga>Cga	p.*1008R	GRID2_ENST00000510992.1_Nonstop_Mutation_p.*913R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	0					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)		CACCTCCATATGAGCATCAAA	0.403																																						uc011cdt.2																			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.(3022-3024)Tga>Cga		Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	L-Glutamic Acid(DB00142)						52	50	51					4																	94693647		2203	4300	6503	SO:0001578	stop_lost	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.chr4:94693647T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.3022T>C	4.37:g.94693647T>C	ENSP00000282020:p.*1008Argext*29		Somatic				GRID2_uc011cdu.2_Nonstop_Mutation_p.*913R	p.*1008R	NM_001510	NP_001501	WXS	Illumina GAIIx	Phase_I	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	15	3280	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	0					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Nonstop_Mutation	SNP	ENST00000282020.4	37	c.3022T>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004848	0.93287	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.23994	N	0.996237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.413	0.74943	0.0:0.0:0.0:1.0	.	.	.	.	R	1008;913	.	.	X	+	1	0	GRID2	94912670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.662000	0.83803	2.038000	0.60285	0.455000	0.32223	TGA		0.403	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			25	61	0	0	0	1	0	25	61					C	94693647	T	C	94693647	4	2	7	1	0	0	0	0	0	0	0	0	6772	1478	51	3	3084	3	GRID2	4	94693647	Nonstop_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		94693647	96460629	20	170											
ANK2	287	broad.mit.edu	37	4	114263046	114263046	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:114263046G>A	ENST00000357077.4	+	33	4149	c.4096G>A	c.(4096-4098)Gag>Aag	p.E1366K	ANK2_ENST00000506722.1_Missense_Mutation_p.E1357K|ANK2_ENST00000510275.2_Missense_Mutation_p.E18K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1366K|ANK2_ENST00000509550.1_Missense_Mutation_p.E542K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1333K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1366	UPA domain.				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)		AAATTTTGCTGAGGTGGCCAG	0.373																																						uc003ibe.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.(4096-4098)Gag>Aag		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							86	83	84					4																	114263046		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114263046G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4096G>A	4.37:g.114263046G>A	ENSP00000349588:p.Glu1366Lys		Somatic				ANK2_uc003ibd.4_Missense_Mutation_p.E1357K|ANK2_uc003ibf.4_Missense_Mutation_p.E1366K|ANK2_uc011cgc.2_Missense_Mutation_p.E542K|ANK2_uc003ibg.4_Missense_Mutation_p.E361K|ANK2_uc003ibh.4_Missense_Mutation_p.E40K|ANK2_uc011cgb.1_Missense_Mutation_p.E1381K	p.E1366K	NM_001148	NP_001139	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	32	4196	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1333					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4096G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648443	0.96714	.	.	ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.54	5.54	0.83059	.	0.000000	0.51477	D	0.000084	T	0.63920	0.2552	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.998;0.999;0.997;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.97;0.993;0.979;0.993;0.971;0.999;0.997	T	0.69881	-0.5025	10	0.87932	D	0	.	19.4923	0.95056	0.0:0.0:1.0:0.0	.	542;1333;412;378;1366;1366;1357	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;ANK2_HUMAN;.;.;.;.;.	K	1279;1357;412;1381;1366;1366;1333;1357;542;18	ENSP00000421011:E1279K;ENSP00000421067:E1357K;ENSP00000424722:E1381K;ENSP00000378044:E1366K;ENSP00000349588:E1366K;ENSP00000264366:E1333K;ENSP00000426944:E542K;ENSP00000421023:E18K	ENSP00000264366:E1333K	E	+	1	0	ANK2	114482495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.607000	0.88179	0.650000	0.86243	GAG		0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		12	102	0	0	0	1	0	12	102					A	114263046	G	A	114263046	3	1	7	1	0	0	0	0	1	0	0	0	621	1291	45	2	4291	2	ANK2	4	114263046	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	19569399	114263046	76891230	21	171											
KIAA0922	23240	broad.mit.edu	37	4	154533507	154533507	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr4:154533507T>C	ENST00000409663.3	+	26	3571	c.3519T>C	c.(3517-3519)tcT>tcC	p.S1173S	KIAA0922_ENST00000409959.3_Silent_p.S1174S|KIAA0922_ENST00000440693.1_Silent_p.S1090S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1173						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACAAAACATCTAGAGAAGACA	0.343																																						uc010ipp.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3520-3522)tcT>tcC		Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.							72	73	73					4																	154533507		2203	4299	6502	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154533507T>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3519T>C	4.37:g.154533507T>C			Somatic				KIAA0922_uc003inm.4_Silent_p.S1173S|KIAA0922_uc010ipq.3_Silent_p.S942S	p.S1174S	NM_001131007	NP_001124479	WXS	Illumina GAIIx	Phase_I	A2VDJ0	T131L_HUMAN			25	3574	+	all_hematologic(180;0.093)	Renal(120;0.118)	1173					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.3522T>C	CCDS3783.2																																																																																				0.343	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		35	38	0	0	0	1	0	35	38					C	154533507	T	C	154533507	2	2	7	1	0	0	0	0	0	0	0	1	8201	1509	53	3		3	KIAA0922	4	154533507	Silent	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	40270461	154533507	36620769	22	172											
ETF1	2107	broad.mit.edu	37	5	137844496	137844496	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:137844496C>G	ENST00000360541.5	-	10	1314	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	ETF1_ENST00000503014.1_Missense_Mutation_p.E351Q|ETF1_ENST00000499810.2_Missense_Mutation_p.E332Q	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	365					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 methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTCATGTTCCTGTCCGGTC	0.433																																						uc003ldc.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1093-1095)Gaa>Caa		Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.							91	90	90					5																	137844496		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137844496C>G	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1093G>C	5.37:g.137844496C>G	ENSP00000353741:p.Glu365Gln		Somatic				ETF1_uc011cyv.2_Missense_Mutation_p.E351Q|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.E332Q	p.E365Q	NM_004730	NP_004721	WXS	Illumina GAIIx	Phase_I	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1258	-			365					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.1093G>C	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620976	0.66787	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	6.17	5.31	0.75309	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	M	0.85945	2.785	0.80722	D	1	P;B	0.39282	0.666;0.162	P;B	0.51833	0.681;0.242	T	0.79855	-0.1627	9	0.37606	T	0.19	-16.4685	15.2063	0.73180	0.0:0.9326:0.0:0.0674	.	351;365	B7Z7P8;P62495	.;ERF1_HUMAN	Q	332;365;351	.	ENSP00000353741:E365Q	E	-	1	0	ETF1	137872395	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.809000	0.86057	1.635000	0.50512	0.655000	0.94253	GAA		0.433	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		8	161	0	0	0	1	0	8	161					G	137844496	C	G	137844496	3	3	7	1	0	0	0	0	1	0	0	0	5268	864	30	4	228	4	ETF1	5	137844496	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		137844496	43070764	23	173											
DBN1	1627	broad.mit.edu	37	5	176893800	176893800	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:176893800C>G	ENST00000309007.5	-	8	963	c.744G>C	c.(742-744)aaG>aaC	p.K248N	DBN1_ENST00000292385.5_Missense_Mutation_p.K250N|DBN1_ENST00000393565.1_Missense_Mutation_p.K248N	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	248					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TCAACCGCCTCTTGGCCTCTT	0.602																																						uc003mgx.2																			0		p.R250L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(748-750)aaG>aaC		Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.							177	188	184					5																	176893800		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893800C>G		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.744G>C	5.37:g.176893800C>G	ENSP00000308532:p.Lys248Asn		Somatic				DBN1_uc003mgy.2_Missense_Mutation_p.K248N|DBN1_uc010jkn.1_Missense_Mutation_p.K198N|DBN1_uc003mgz.1_Missense_Mutation_p.K185N	p.K250N	NM_080881	NP_543157	WXS	Illumina GAIIx	Phase_I	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1032	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	248					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.750G>C	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532320	0.64972	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41065	1.01;1.01;1.01	4.99	3.06	0.35304	.	0.106793	0.64402	D	0.000010	T	0.54549	0.1865	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.71414	0.973;0.94;0.922;0.964	T	0.52215	-0.8605	10	0.39692	T	0.17	-30.8346	9.6929	0.40139	0.0:0.759:0.0:0.241	.	198;248;248;250	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	N	248;250;248;247	ENSP00000308532:K248N;ENSP00000292385:K250N;ENSP00000377195:K248N	ENSP00000292385:K250N	K	-	3	2	DBN1	176826406	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.665000	0.25083	1.328000	0.45358	0.655000	0.94253	AAG		0.602	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		4	260	0	0	0	1	0	4	260					G	176893800	C	G	176893800	3	3	7	1	0	0	0	0	1	0	0	0	4252	912	32	4	1233	4	DBN1	5	176893800	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	39049304	176893800	4021460	24	174											
TRIM52	84851	broad.mit.edu	37	5	180687578	180687578	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr5:180687578G>C	ENST00000327767.4	-	1	541	c.237C>G	c.(235-237)gaC>gaG	p.D79E	TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	79	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GAATGGAGCCGTCCCATCCAT	0.552																																						uc003mnp.3																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(235-237)gaC>gaG		Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.							180	137	151					5																	180687578		2203	4300	6503	SO:0001583	missense	84851					intracellular	zinc ion binding	g.chr5:180687578G>C		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.237C>G	5.37:g.180687578G>C	ENSP00000332152:p.Asp79Glu		Somatic				BC016291_uc003mnq.3_5'Flank	p.D79E	NM_032765	NP_116154	WXS	Illumina GAIIx	Phase_I	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	0	542	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	79			Glu-rich.			Missense_Mutation	SNP	ENST00000327767.4	37	c.237C>G	CCDS4467.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.677239	0.29783	.	.	ENSG00000183718	ENST00000327767	T	0.21734	1.99	3.45	1.6	0.23607	Zinc finger, RING-type (1);	.	.	.	.	T	0.13841	0.0335	L	0.32530	0.975	0.09310	N	1	P	0.47034	0.889	B	0.41236	0.351	T	0.13176	-1.0519	8	.	.	.	.	4.7237	0.12931	0.2923:0.0:0.7077:0.0	.	79	Q96A61	TRI52_HUMAN	E	79	ENSP00000332152:D79E	.	D	-	3	2	TRIM52	180620184	0.001000	0.12720	0.002000	0.10522	0.265000	0.26407	0.534000	0.23098	0.750000	0.32877	0.511000	0.50034	GAC		0.552	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		4	199	0	0	0	1	0	4	199					C	180687578	G	C	180687578	3	2	7	1	0	0	0	0	1	0	0	0	16524	1136	40	4	664	4	TRIM52	5	180687578	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	3793778	180687578	227682	25	175											
MDC1	9656	broad.mit.edu	37	6	30681830	30681830	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr6:30681830G>A	ENST00000376406.3	-	3	914	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.L89L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CACAGTCTCGGAGGATAGGTG	0.517								Other conserved DNA damage response genes																														uc003nrg.4																			0		p.I88F(1)		breast(2)|kidney(1)|ovary(1)	4						c.(265-267)ctC>ctT	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							111	94	100					6																	30681830		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681830G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.267C>T	6.37:g.30681830G>A			Somatic				MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Silent_p.L89L	p.L89L	NM_014641	NP_055456	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			2	707	-			89			FHA.|Interaction with CHEK2.|Interaction with the MRN complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.267C>T	CCDS34384.1																																																																																				0.517	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		4	98	0	0	0	1	0	4	98					A	30681830	G	A	30681830	2	1	7	1	0	0	0	0	0	0	0	1	9403	1161	41	2		2	MDC1	6	30681830	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		30681830	140433237	26	176											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	63	0	0	0	1	0	38	63					T	140453136	A	T	140453136	3	4	7	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08		140453136	18685527	27	177											
RAB11FIP1	80223	broad.mit.edu	37	8	37720621	37720621	+	Missense_Mutation	SNP	G	G	A	rs367553328		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:37720621G>A	ENST00000330843.4	-	6	3656	c.3644C>T	c.(3643-3645)cCc>cTc	p.P1215L	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P581L|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P433L|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1215	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGGTCCGAGGGGCTGTATTT	0.448																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3643-3645)cCc>cTc		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.		G	LEU/PRO,LEU/PRO	1,4405		0,1,2202	74	80	78		3644,1742	6.0	1.0	8		78	0,8600		0,0,4300	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1215/1284,581/650	37720621	1,13005	2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37720621G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3644C>T	8.37:g.37720621G>A	ENSP00000331342:p.Pro1215Leu		Somatic				RAB11FIP1_uc003xkn.2_Missense_Mutation_p.P581L|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P544L	p.P1215L	NM_001002814	NP_001002814	WXS	Illumina GAIIx	Phase_I	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		5	3700	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1215			FIP-RBD.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.3644C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840533	0.71488	2.27E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727	T;T;T	0.33438	2.07;2.41;1.41	6.03	6.03	0.97812	Rab-binding domain FIP-RBD (1);	0.000000	0.64402	D	0.000016	T	0.51702	0.1690	L	0.46157	1.445	0.80722	D	1	D;D;P	0.76494	0.999;0.971;0.476	D;P;B	0.70935	0.971;0.859;0.394	T	0.38045	-0.9679	10	0.52906	T	0.07	-24.8904	20.5752	0.99366	0.0:0.0:1.0:0.0	.	433;581;1215	E7EX40;Q6WKZ4-3;Q6WKZ4	.;.;RFIP1_HUMAN	L	581;1215;433	ENSP00000287263:P581L;ENSP00000331342:P1215L;ENSP00000430009:P433L	ENSP00000287263:P581L	P	-	2	0	RAB11FIP1	37839779	1.000000	0.71417	0.989000	0.46669	0.520000	0.34377	6.469000	0.73555	2.868000	0.98415	0.557000	0.71058	CCC		0.448	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	134	0	0	0	1	0	5	134					A	37720621	G	A	37720621	3	1	7	1	0	0	0	0	1	0	0	0	12893	1232	43	2	211	2	RAB11FIP1	8	37720621	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		37720621	108643401	28	178											
PRKDC	5591	broad.mit.edu	37	8	48772221	48772221	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:48772221G>C	ENST00000314191.2	-	47	6211	c.6155C>G	c.(6154-6156)tCa>tGa	p.S2052*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S2052*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2053					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)	p.S2052*(1)|p.S2053*(1)		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)	GGAGCTGTATGAATAGCTCTG	0.438								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			2	Substitution - Nonsense(2)	p.S2052*(1)|p.S2053*(1)	large_intestine(2)	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						c.(6154-6156)tCa>tGa	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							122	120	121					8																	48772221		1889	4125	6014	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48772221G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6155C>G	8.37:g.48772221G>C	ENSP00000313420:p.Ser2052*		Somatic				PRKDC_uc003xqj.3_Nonsense_Mutation_p.S2052*	p.S2052*	NM_006904	NP_008835	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			46	6212	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2053					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.6155C>G		.	.	.	.	.	.	.	.	.	.	G	48	13.995747	0.99774	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2546	0.93941	0.0:0.0:1.0:0.0	.	.	.	.	X	2052	.	ENSP00000313420:S2052X	S	-	2	0	PRKDC	48934774	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	7.459000	0.80802	2.786000	0.95864	0.561000	0.74099	TCA		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	206	0	0	0	1	0	6	206					C	48772221	G	C	48772221	4	2	7	1	0	0	0	0	0	1	0	0	12521	1294	45	4	6392	4	PRKDC	8	48772221	Nonsense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	11051600	48772221	97591801	29	179											
RUNX1T1	862	broad.mit.edu	37	8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	543					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567																																						uc022axs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1804-1806)Gac>Cac		Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.							90	79	83					8																	92972658		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972658C>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1627G>C	8.37:g.92972658C>G	ENSP00000428543:p.Asp543His		Somatic				RUNX1T1_uc003yfc.2_Missense_Mutation_p.D516H|RUNX1T1_uc010mam.3_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D506H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D543H|RUNX1T1_uc022axo.1_Missense_Mutation_p.D543H|RUNX1T1_uc010mao.3_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D554H|RUNX1T1_uc022axp.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axq.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axr.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axt.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axu.1_Missense_Mutation_p.D523H|RUNX1T1_uc022axv.1_Missense_Mutation_p.D543H|RUNX1T1_uc010man.2_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D506H	p.D602H	NM_001198679	NP_001185608	WXS	Illumina GAIIx	Phase_I	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1991	-			543					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1804G>C	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233862	0.79688	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.52057	0.68;0.74;0.68;0.76;0.76;0.76;0.71;0.74	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.28776	0.89	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;1.0;1.0;0.999	T	0.59968	-0.7354	10	0.52906	T	0.07	-24.1858	20.1802	0.98196	0.0:1.0:0.0:0.0	.	554;506;543;516	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	H	543;516;543;506;506;506;554;516	ENSP00000428543:D543H;ENSP00000379520:D516H;ENSP00000265814:D543H;ENSP00000353504:D506H;ENSP00000390137:D506H;ENSP00000428742:D506H;ENSP00000402257:D554H;ENSP00000430728:D516H	ENSP00000265814:D543H	D	-	1	0	RUNX1T1	93041834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GAC		0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		5	51	0	0	0	1	0	5	51					G	92972658	C	G	92972658	3	3	7	1	0	0	0	0	1	0	0	0	13747	913	32	4	191	4	RUNX1T1	8	92972658	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	44200437	92972658	53391364	30	180											
ASAP1	50807	broad.mit.edu	37	8	131067027	131067027	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:131067027C>T	ENST00000518721.1	-	30	3567	c.3340G>A	c.(3340-3342)Gaa>Aaa	p.E1114K	ASAP1_ENST00000357668.1_Missense_Mutation_p.E1114K	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1114	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCCTTCCTTTCAGGCTGTCCT	0.527																																						uc003yta.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(3340-3342)Gaa>Aaa		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							143	126	132					8																	131067027		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding	g.chr8:131067027C>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.3340G>A	8.37:g.131067027C>T	ENSP00000429900:p.Glu1114Lys		Somatic				ASAP1_uc003ysz.2_Missense_Mutation_p.E925K|ASAP1_uc011liw.2_Missense_Mutation_p.E1107K	p.E1114K	NM_018482	NP_060952	WXS	Illumina GAIIx	Phase_I	Q9ULH1	ASAP1_HUMAN			29	3568	-			1114			SH3.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.3340G>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482441	0.63962	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.29917	1.55;1.55	5.62	5.62	0.85841	Src homology-3 domain (4);	0.280072	0.39210	N	0.001426	T	0.24624	0.0597	N	0.20685	0.6	0.80722	D	1	B;B;B	0.23735	0.09;0.09;0.073	B;B;B	0.28385	0.089;0.089;0.053	T	0.05068	-1.0908	10	0.22109	T	0.4	.	18.6495	0.91425	0.0:1.0:0.0:0.0	.	1114;1114;1117	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	K	1117;1114;1114	ENSP00000350297:E1114K;ENSP00000429900:E1114K	ENSP00000344591:E1117K	E	-	1	0	ASAP1	131136209	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	5.772000	0.68889	2.633000	0.89246	0.655000	0.94253	GAA		0.527	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		6	127	0	0	0	1	0	6	127					T	131067027	C	T	131067027	3	4	7	1	0	0	0	0	1	0	0	0	1010	835	29	2	53	2	ASAP1	8	131067027	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	38094369	131067027	15296995	31	181											
FAM135B	51059	broad.mit.edu	37	8	139163752	139163752	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr8:139163752A>G	ENST00000395297.1	-	13	3136	c.2966T>C	c.(2965-2967)gTg>gCg	p.V989A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	989										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGAATGGGTCACAGTGGGGCA	0.493										HNSCC(54;0.14)																												uc003yuy.3																			0		p.T988T(1)|p.V989V(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2965-2967)gTg>gCg		Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.							101	89	93					8																	139163752		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163752A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2966T>C	8.37:g.139163752A>G	ENSP00000378710:p.Val989Ala	HNSCC(54;0.14)	Somatic				FAM135B_uc003yux.3_Missense_Mutation_p.V890A|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.V551A|FAM135B_uc003yvb.3_Missense_Mutation_p.V551A	p.V989A	NM_015912	NP_056996	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	3137	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		989					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2966T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266860	0.40095	.	.	ENSG00000147724	ENST00000395297	T	0.15017	2.46	5.45	-1.81	0.07882	.	1.315360	0.04859	N	0.443795	T	0.13114	0.0318	L	0.51422	1.61	0.09310	N	1	B;B;B	0.20052	0.041;0.041;0.001	B;B;B	0.16722	0.016;0.011;0.003	T	0.32295	-0.9912	10	0.15952	T	0.53	-4.9411	2.4819	0.04589	0.3313:0.3984:0.1525:0.1179	.	989;989;989	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	A	989	ENSP00000378710:V989A	ENSP00000276737:V989A	V	-	2	0	FAM135B	139232934	0.286000	0.24305	0.920000	0.36463	0.962000	0.63368	0.947000	0.29082	0.039000	0.15632	0.533000	0.62120	GTG		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		41	70	0	0	0	1	0	41	70					G	139163752	A	G	139163752	3	3	7	1	0	0	0	0	1	0	0	0	5449	159	6	3	1286	3	FAM135B	8	139163752	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	8096725	139163752	7200270	32	182											
OR1N2	138882	broad.mit.edu	37	9	125315950	125315950	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr9:125315950C>G	ENST00000373688.2	+	1	560	c.502C>G	c.(502-504)Cta>Gta	p.L168V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTGCTGGGTGCTAACCAACTG	0.532																																						uc011lyx.2																			0		p.L168P(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(502-504)Cta>Gta		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							140	122	128					9																	125315950		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315950C>G		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.502C>G	9.37:g.125315950C>G	ENSP00000362792:p.Leu168Val		Somatic					p.L168V	NM_001004457	NP_001004457	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			0	502	+			168					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.502C>G	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959276	0.18507	.	.	ENSG00000171501	ENST00000373688	T	0.39229	1.09	4.41	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.200788	0.24251	N	0.040175	T	0.30355	0.0762	N	0.25485	0.75	0.09310	N	1	B	0.28760	0.221	B	0.37550	0.253	T	0.20806	-1.0264	10	0.37606	T	0.19	.	6.0188	0.19618	0.0:0.6034:0.0:0.3965	.	168	Q8NGR9	OR1N2_HUMAN	V	168	ENSP00000362792:L168V	ENSP00000362792:L168V	L	+	1	2	OR1N2	124355771	0.001000	0.12720	0.857000	0.33713	0.975000	0.68041	-0.074000	0.11450	0.509000	0.28195	0.644000	0.83932	CTA		0.532	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			17	184	0	0	0	1	0	17	184					G	125315950	C	G	125315950	3	3	7	1	0	0	0	0	1	0	0	0	10970	796	28	4	504	4	OR1N2	9	125315950	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		125315950	15897481	33	183											
CHAT	1103	broad.mit.edu	37	10	50824648	50824648	+	Splice_Site	SNP	T	T	G	rs143723043		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr10:50824648T>G	ENST00000337653.2	+	2	540	c.387T>G	c.(385-387)tcT>tcG	p.S129S	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Splice_Site_p.S11S|CHAT_ENST00000395559.2_Splice_Site_p.S11S|CHAT_ENST00000351556.3_Splice_Site_p.S11S|CHAT_ENST00000455728.2_Splice_Site_p.S11S|CHAT_ENST00000395562.2_Splice_Site_p.S47S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	129					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)	GTGAGGAGTCTGTGAGTGACT	0.567																																						uc001jhz.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.e2+1		Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	Choline(DB00122)						113	86	95					10																	50824648		2203	4300	6503	SO:0001630	splice_region_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50824648T>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.387+1T>G	10.37:g.50824648T>G			Somatic				CHAT_uc001jhv.1_Splice_Site_p.S11_splice|CHAT_uc001jhx.1_Splice_Site_p.S11_splice|CHAT_uc001jhy.1_Splice_Site_p.S11_splice|CHAT_uc001jia.2_Splice_Site_p.S47_splice|CHAT_uc010qgs.1_Splice_Site_p.S11_splice	p.S129_splice	NM_020549	NP_066266	WXS	Illumina GAIIx	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	2	540	+		all_neural(218;0.107)	129					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Splice_Site	SNP	ENST00000337653.2	37	c.387_splice	CCDS7232.1																																																																																				0.567	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	Silent	17	14	0	0	0	1	0	17	14					G	50824648	T	G	50824648	5	3	7	1	0	0	0	0	0	0	1	0	3313	1594	55	5	437	5	CHAT	10	50824648	Splice_Site	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		50824648	84710099	34	184											
MUC5B	727897	broad.mit.edu	37	11	1264048	1264048	+	Missense_Mutation	SNP	G	G	A	rs189444561		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:1264048G>A	ENST00000529681.1	+	31	5996	c.5938G>A	c.(5938-5940)Gtt>Att	p.V1980I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V1983I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1980	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			VTP -> FTA (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTACCAGCGTTACACCCAT	0.632																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5938-5940)Gtt>Att		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							226	284	264					11																	1264048		2182	4266	6448	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264048G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5938G>A	11.37:g.1264048G>A	ENSP00000436812:p.Val1980Ile		Somatic					p.V1980I	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	5997	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1980	VTP -> FTA (in Ref. 4; CAA96577).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5938G>A	CCDS44515.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	4.904	0.168075	0.09339	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.56	1.36	0.248	0.15526	.	.	.	.	.	T	0.07728	0.0194	N	0.14661	0.345	0.09310	N	1	B;B	0.27498	0.18;0.106	B;B	0.15052	0.012;0.008	T	0.30880	-0.9963	9	0.87932	D	0	.	1.8708	0.03208	0.1534:0.1853:0.4662:0.1952	.	2673;1983	A7Y9J9;E9PBJ0	.;.	I	1980;1983;1981;2050	ENSP00000436812:V1980I;ENSP00000415793:V1983I	ENSP00000343037:V1981I	V	+	1	0	MUC5B	1220624	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	1.280000	0.33202	-0.912000	0.03837	-1.142000	0.01873	GTT		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		79	117	0	0	0	1	0	79	117					A	1264048	G	A	1264048	3	1	7	1	0	0	0	0	1	0	0	0	9979	1145	40	1	6069	1	MUC5B	11	1264048	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		1264048	133742468	35	185											
OR51V1	283111	broad.mit.edu	37	11	5221748	5221748	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:5221748C>G	ENST00000321255.1	-	1	182	c.183G>C	c.(181-183)gaG>gaC	p.E61D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	61					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(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGCTTGGCTCAGTCCATA	0.537																																						uc010qyz.2																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(181-183)gaG>gaC		Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.							122	104	110					11																	5221748		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221748C>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.183G>C	11.37:g.5221748C>G	ENSP00000321729:p.Glu61Asp		Somatic					p.E61D	NM_001004760	NP_001004760	WXS	Illumina GAIIx	Phase_I	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	183	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	61						Missense_Mutation	SNP	ENST00000321255.1	37	c.183G>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	6.083	0.383542	0.11524	.	.	ENSG00000176742	ENST00000321255	T	0.02140	4.43	5.48	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000484	T	0.03739	0.0106	N	0.25380	0.74	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.48779	-0.9005	10	0.19147	T	0.46	.	1.7292	0.02928	0.1675:0.4888:0.1612:0.1825	.	61	Q9H2C8	O51V1_HUMAN	D	61	ENSP00000321729:E61D	ENSP00000321729:E61D	E	-	3	2	OR51V1	5178324	0.000000	0.05858	0.938000	0.37757	0.278000	0.26855	-0.414000	0.07114	1.551000	0.49450	0.650000	0.86243	GAG		0.537	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		13	72	0	0	0	1	0	13	72					G	5221748	C	G	5221748	3	3	7	1	0	0	0	0	1	0	0	0	11107	796	28	4	785	4	OR51V1	11	5221748	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	3957700	5221748	129784768	36	186											
EIF4G2	1982	broad.mit.edu	37	11	10822345	10822345	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:10822345A>G	ENST00000526148.1	-	16	2087	c.1577T>C	c.(1576-1578)aTc>aCc	p.I526T	EIF4G2_ENST00000525681.1_Missense_Mutation_p.I526T|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.I526T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I488T|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTTTTCCTGGATAAGCGGTGG	0.383																																						uc009ygf.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1576-1578)aTc>aCc		Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.							115	112	113					11																	10822345		2201	4294	6495	SO:0001583	missense	1982				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10822345A>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1577T>C	11.37:g.10822345A>G	ENSP00000433664:p.Ile526Thr		Somatic				EIF4G2_uc001mjb.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjc.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjd.3_Missense_Mutation_p.I488T	p.I526T	NM_001418	NP_001409	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	1883	-			526						Missense_Mutation	SNP	ENST00000526148.1	37	c.1577T>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801380	0.70567	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.43688	2.29;2.29;2.29;2.28;0.94	6.06	6.06	0.98353	.	0.044625	0.85682	D	0.000000	T	0.43567	0.1253	L	0.49350	1.555	0.47949	D	0.999558	D;D	0.59357	0.985;0.985	P;P	0.47206	0.541;0.541	T	0.42949	-0.9421	9	0.13108	T	0.6	-6.1952	16.6245	0.84952	1.0:0.0:0.0:0.0	.	526;599	P78344;B4DZF2	IF4G2_HUMAN;.	T	526;526;526;488;599;31	ENSP00000433664:I526T;ENSP00000433371:I526T;ENSP00000340281:I526T;ENSP00000379778:I488T;ENSP00000433561:I31T	ENSP00000340281:I526T	I	-	2	0	EIF4G2	10778921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.890000	0.92477	2.323000	0.78572	0.528000	0.53228	ATC		0.383	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		48	75	0	0	0	1	0	48	75					G	10822345	A	G	10822345	3	3	7	1	0	0	0	0	1	0	0	0	5037	333	12	3	1174	3	EIF4G2	11	10822345	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	5600597	10822345	124184171	37	187											
PATL1	219988	broad.mit.edu	37	11	59421541	59421541	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:59421541G>C	ENST00000300146.9	-	9	1120	c.1036C>G	c.(1036-1038)Cag>Gag	p.Q346E		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	346	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|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 metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATTGGGGCCTGAGATCTAAGA	0.428																																						uc001noe.4																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1036-1038)Cag>Gag		Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.							162	160	161					11																	59421541		1975	4155	6130	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding	g.chr11:59421541G>C	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1036C>G	11.37:g.59421541G>C	ENSP00000300146:p.Gln346Glu		Somatic				PATL1_uc009yms.1_Missense_Mutation_p.Q316E|PATL1_uc010rkw.2_Missense_Mutation_p.Q51E	p.Q346E	NM_152716	NP_689929	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			8	1179	-			346			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1036C>G	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341552	0.24339	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.46451	0.87	5.75	5.75	0.90469	.	0.129015	0.51477	D	0.000083	T	0.29945	0.0749	L	0.29908	0.895	0.40485	D	0.980483	B;B	0.19583	0.012;0.037	B;B	0.22386	0.015;0.039	T	0.11060	-1.0603	10	0.10636	T	0.68	-11.9401	12.86	0.57908	0.0753:0.0:0.9247:0.0	.	316;346	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	E	346;316	ENSP00000300146:Q346E	ENSP00000300146:Q346E	Q	-	1	0	PATL1	59178117	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.718000	0.68455	2.716000	0.92895	0.655000	0.94253	CAG		0.428	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		3	116	0	0	0	1	0	3	116					C	59421541	G	C	59421541	3	2	7	1	0	0	0	0	1	0	0	0	11475	1299	45	4	1320	4	PATL1	11	59421541	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	48599196	59421541	75584975	38	188											
TMEM109	79073	broad.mit.edu	37	11	60689584	60689584	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:60689584C>T	ENST00000227525.3	+	4	1082	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	TMEM132A_ENST00000005286.4_5'Flank|RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.R227C|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	227					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GGAGGAGCTGCGCTGGCGCCA	0.687																																						uc001nqg.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(679-681)Cgc>Tgc		Homo sapiens transmembrane protein 109 (TMEM109), mRNA.							13	15	14					11																	60689584		2201	4296	6497	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60689584C>T		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.679C>T	11.37:g.60689584C>T	ENSP00000227525:p.Arg227Cys		Somatic				TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	p.R227C	NM_024092	NP_076997	WXS	Illumina GAIIx	Phase_I	Q9BVC6	TM109_HUMAN			3	1057	+			227						Missense_Mutation	SNP	ENST00000227525.3	37	c.679C>T	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110550	0.77210	.	.	ENSG00000110108	ENST00000227525;ENST00000536171	.	.	.	5.05	4.13	0.48395	.	0.000000	0.64402	D	0.000003	T	0.67581	0.2908	L	0.56769	1.78	0.46113	D	0.998876	D	0.89917	1.0	P	0.59288	0.855	T	0.71031	-0.4710	9	0.87932	D	0	-5.8291	13.0564	0.58982	0.1605:0.8395:0.0:0.0	.	227	Q9BVC6	TM109_HUMAN	C	227	.	ENSP00000227525:R227C	R	+	1	0	TMEM109	60446160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.146000	0.42216	1.095000	0.41419	0.650000	0.86243	CGC		0.687	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		5	39	0	0	0	1	0	5	39					T	60689584	C	T	60689584	3	4	7	1	0	0	0	0	1	0	0	0	16022	768	27	1	689	1	TMEM109	11	60689584	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	1268043	60689584	74316932	39	189											
ASRGL1	80150	broad.mit.edu	37	11	62123836	62123836	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr11:62123836T>C	ENST00000415229.2	+	3	445	c.230T>C	c.(229-231)aTg>aCg	p.M77T	ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Missense_Mutation_p.M77T	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	77					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GAGGTTGAAATGGATGCTAGT	0.453																																						uc001nte.4																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(229-231)aTg>aCg		Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						208	192	198					11																	62123836		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62123836T>C		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.230T>C	11.37:g.62123836T>C	ENSP00000400057:p.Met77Thr		Somatic				ASRGL1_uc001ntf.4_Missense_Mutation_p.M77T|ASRGL1_uc001ntg.4_Intron|ASRGL1_uc001nth.1_5'Flank	p.M77T	NM_025080	NP_079356	WXS	Illumina GAIIx	Phase_I	Q7L266	ASGL1_HUMAN			2	514	+			77					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.230T>C	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	t	22.4	4.289149	0.80914	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.89343	-2.5;-2.5	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	M	0.84585	2.705	0.80722	D	1	B	0.32467	0.372	P	0.51742	0.678	D	0.94314	0.7548	10	0.87932	D	0	-37.1564	14.108	0.65104	0.0:0.0:0.0:1.0	.	77	Q7L266	ASGL1_HUMAN	T	77	ENSP00000400057:M77T;ENSP00000301776:M77T	ENSP00000301776:M77T	M	+	2	0	ASRGL1	61880412	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.330000	0.72925	2.210000	0.71456	0.528000	0.53228	ATG		0.453	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		64	95	0	0	0	1	0	64	95					C	62123836	T	C	62123836	3	2	7	1	0	0	0	0	1	0	0	0	1060	1464	51	3	236	3	ASRGL1	11	62123836	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	1434252	62123836	72882680	40	190											
A2M	2	broad.mit.edu	37	12	9264798	9264798	+	Missense_Mutation	SNP	C	C	T	rs201769751		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:9264798C>T	ENST00000318602.7	-	4	747	c.440G>A	c.(439-441)cGt>cAt	p.R147H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	147					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAGACAACACGAAATTTCAC	0.393													C|||	3	0.000599042	0.0023	0	5008	,	,		-128	0		0	False		,,,				2504	0					uc001qvk.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(439-441)cGt>cAt		Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	Bacitracin(DB00626)|Becaplermin(DB00102)	C	HIS/ARG	3,3657		0,3,1827	67	66	66		440	5.4	1.0	12		66	0,8148		0,0,4074	yes	missense	A2M	NM_000014.4	29	0,3,5901	TT,TC,CC		0.0,0.082,0.0254	probably-damaging	147/1475	9264798	3,11805	1830	4074	5904	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9264798C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.440G>A	12.37:g.9264798C>T	ENSP00000323929:p.Arg147His		Somatic				A2M_uc009zgk.1_5'UTR	p.R147H	NM_000014	NP_000005	WXS	Illumina GAIIx	Phase_I	P01023	A2MG_HUMAN			3	553	-			147					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.440G>A	CCDS44827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	23.1	4.371479	0.82573	8.2E-4	0.0	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.77229	-1.08;-1.08	5.43	5.43	0.79202	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.91811	0.7409	H	0.96996	3.92	0.46078	D	0.998853	D	0.89917	1.0	D	0.81914	0.995	D	0.94107	0.7367	10	0.87932	D	0	.	14.7525	0.69536	0.0:1.0:0.0:0.0	.	147	P01023	A2MG_HUMAN	H	147;162;147	ENSP00000323929:R147H;ENSP00000385710:R147H	ENSP00000323929:R147H	R	-	2	0	A2M	9156065	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	3.028000	0.49705	2.540000	0.85666	0.650000	0.86243	CGT		0.393	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		13	35	0	0	0	1	0	13	35					T	9264798	C	T	9264798	3	4	7	1	0	0	0	0	1	0	0	0	4	536	19	1	4116	1	A2M	12	9264798	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		9264798	124587097	41	191											
PPHLN1	51535	broad.mit.edu	37	12	42836501	42836501	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:42836501C>T	ENST00000395568.2	+	11	1167	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	PPHLN1_ENST00000337898.6_Silent_p.H306H|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Silent_p.H306H|PPHLN1_ENST00000256678.8_Silent_p.H241H	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	361					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		aaatggatcacgacggaaccc	0.552																																						uc001rng.1																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1081-1083)caC>caT		Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.							132	130	131					12																	42836501		2203	4300	6503	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42836501C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.1083C>T	12.37:g.42836501C>T			Somatic				PPHLN1_uc010skr.1_Silent_p.H306H|PPHLN1_uc010sks.1_Silent_p.H287H|PPHLN1_uc010skt.1_Silent_p.H241H|PPHLN1_uc001rni.1_Silent_p.H306H|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron	p.H361H	NM_016488	NP_057572	WXS	Illumina GAIIx	Phase_I	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	10	1188	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	361					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.1083C>T	CCDS31777.1																																																																																				0.552	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		22	279	0	0	0	1	0	22	279					T	42836501	C	T	42836501	2	4	7	1	0	0	0	0	0	0	0	1	12315	535	19	1		1	PPHLN1	12	42836501	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	33571703	42836501	91015394	42	192											
ESPL1	9700	broad.mit.edu	37	12	53680377	53680377	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:53680377A>T	ENST00000257934.4	+	18	3948	c.3857A>T	c.(3856-3858)cAa>cTa	p.Q1286L	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q1286L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1286					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGTACTACCCAACTTTTTGCA	0.552																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(3856-3858)cAa>cTa		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							55	59	58					12																	53680377		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680377A>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3857A>T	12.37:g.53680377A>T	ENSP00000257934:p.Gln1286Leu		Somatic				ESPL1_uc001scj.2_Missense_Mutation_p.Q961L|ESPL1_uc010soe.1_Intron	p.Q1286L	NM_012291	NP_036423	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			17	3948	+			1286						Missense_Mutation	SNP	ENST00000257934.4	37	c.3857A>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	8.750	0.920966	0.17982	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12879	2.64;2.64	4.96	3.81	0.43845	.	0.311935	0.34777	N	0.003693	T	0.12987	0.0315	L	0.57536	1.79	0.19300	N	0.999971	P	0.40000	0.698	B	0.35353	0.201	T	0.18461	-1.0336	10	0.72032	D	0.01	.	7.7043	0.28640	0.9049:0.0:0.0951:0.0	.	1286	Q14674	ESPL1_HUMAN	L	1286;961;1286	ENSP00000257934:Q1286L;ENSP00000449831:Q1286L	ENSP00000257934:Q1286L	Q	+	2	0	ESPL1	51966644	0.175000	0.23083	0.513000	0.27749	0.022000	0.10575	1.298000	0.33412	1.021000	0.39600	0.459000	0.35465	CAA		0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	124	0	0	0	1	0	7	124					T	53680377	A	T	53680377	3	4	7	1	0	0	0	0	1	0	0	0	5253	130	5	5	3923	5	ESPL1	12	53680377	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	10843876	53680377	80171518	43	193											
CCT2	10576	broad.mit.edu	37	12	69985902	69985902	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:69985902T>G	ENST00000299300.6	+	8	901	c.713T>G	c.(712-714)cTt>cGt	p.L238R	CCT2_ENST00000543146.2_Missense_Mutation_p.L191R|CCT2_ENST00000544368.2_Missense_Mutation_p.L238R	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	238					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTAAAATTCTTATTGCAAAT	0.299																																						uc001svb.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(712-714)cTt>cGt		Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.							66	75	72					12																	69985902		2202	4299	6501	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69985902T>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.713T>G	12.37:g.69985902T>G	ENSP00000299300:p.Leu238Arg		Somatic				CCT2_uc010stl.1_Missense_Mutation_p.L191R	p.L238R	NM_006431	NP_001185771	WXS	Illumina GAIIx	Phase_I	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		7	807	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		238					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.713T>G	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467887	0.84533	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	D;D;D	0.84146	-1.81;-1.81;-1.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96926	0.9677	9	.	.	.	-38.207	15.7577	0.78046	0.0:0.0:0.0:1.0	.	238;238	F5GWF6;P78371	.;TCPB_HUMAN	R	238;238;191	ENSP00000299300:L238R;ENSP00000441847:L238R;ENSP00000445471:L191R	.	L	+	2	0	CCT2	68272169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.094000	0.76944	2.191000	0.70037	0.533000	0.62120	CTT		0.299	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		38	56	0	0	0	1	0	38	56					G	69985902	T	G	69985902	3	3	7	1	0	0	0	0	1	0	0	0	2953	1609	56	5	743	5	CCT2	12	69985902	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	16305525	69985902	63865993	44	194											
ACAD10	80724	broad.mit.edu	37	12	112185090	112185101	+	Splice_Site	DEL	CCCACTCAGGTT	CCCACTCAGGTT	-	rs377685712		TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:112185090_112185101delCCCACTCAGGTT	ENST00000313698.4	+	16	2549_2552	c.2394_2397delCCCACTCAGGTT	c.(2392-2397)caccca>ca	p.HP798del	ACAD10_ENST00000392636.2_Splice_Site_p.HP400del|ACAD10_ENST00000455480.2_Splice_Site_p.HP829del|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	798						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAATATGCTCCCCACTCAGGTTGCCTCTTCAG	0.561																																						uc009zvx.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.e17-1		Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112185090_112185101delCCCACTCAGGTT	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2395-1CCCACTCAGGTT>-	12.37:g.112185090_112185101delCCCACTCAGGTT			Somatic				ACAD10_uc001tsp.3_Splice_Site_p.V799_splice|ACAD10_uc001tsq.3_Splice_Site_p.V799_splice|ACAD10_uc001tss.1_Splice_Site	p.V830_splice	NM_001136538	NP_001130010	WXS	Illumina GAIIx	Phase_I	Q6JQN1	ACD10_HUMAN			17	2688	+			799					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Splice_Site	DEL	ENST00000313698.4	37	c.2488_splice	CCDS31903.1																																																																																				0.561	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	In_Frame_Del	34	56						34	56	---	---	---	---	-	112185101	CCCACTCAGGTT	-	112185090	8	5	7	1	0	1	0	1	0	0	1	0	108	638	22	0		0	ACAD10	12	112185090	Splice_Site	DEL	CCCACTCAGGTT	TCGA-BJ-A0ZB-01A-11D-A10S-08	42199188	112185090	21666805	45	195											
CIT	11113	broad.mit.edu	37	12	120241044	120241044	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr12:120241044A>G	ENST00000261833.7	-	10	1313	c.1261T>C	c.(1261-1263)Tac>Cac	p.Y421H	CIT_ENST00000392521.2_Missense_Mutation_p.Y421H	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	421	AGC-kinase C-terminal.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCTTGCTGTACGAAAACCCC	0.488																																						uc001txj.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1261-1263)Tac>Cac		Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.							90	91	90					12																	120241044		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr12:120241044A>G	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1261T>C	12.37:g.120241044A>G	ENSP00000261833:p.Tyr421His		Somatic				CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.Y421H	p.Y421H	NM_001206999	NP_001193928	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	9	1317	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	421			AGC-kinase C-terminal.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1261T>C	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743478	0.30865	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.73897	-0.79;-0.79	5.43	5.43	0.79202	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.069169	0.56097	D	0.000022	T	0.69895	0.3162	L	0.52266	1.64	0.43499	D	0.995746	B;B	0.22983	0.013;0.078	B;B	0.23018	0.02;0.043	T	0.66284	-0.5962	10	0.36615	T	0.2	.	15.5086	0.75760	1.0:0.0:0.0:0.0	.	421;421	Q2M5E1;O14578	.;CTRO_HUMAN	H	421	ENSP00000376306:Y421H;ENSP00000261833:Y421H	ENSP00000261833:Y421H	Y	-	1	0	CIT	118725427	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.475000	0.90417	2.061000	0.61500	0.533000	0.62120	TAC		0.488	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		3	101	0	0	0	1	0	3	101					G	120241044	A	G	120241044	3	3	7	1	0	0	0	0	1	0	0	0	3438	391	14	3	4974	3	CIT	12	120241044	Missense_Mutation	SNP	A	TCGA-BJ-A0ZB-01A-11D-A10S-08	8055954	120241044	13610851	46	196											
LCTL	197021	broad.mit.edu	37	15	66842425	66842425	+	Silent	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:66842425G>C	ENST00000341509.5	-	12	1673	c.1542C>G	c.(1540-1542)ctC>ctG	p.L514L	LCTL_ENST00000537670.1_Silent_p.L341L	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	514					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAAAGCTTTGAGGTACCAAC	0.308																																						uc002aqc.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1540-1542)ctC>ctG		Homo sapiens lactase-like (LCTL), mRNA.							68	66	67					15																	66842425		2201	4298	6499	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66842425G>C	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"klotho gamma", "KL lactase phlorizin hydrolase"					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1542C>G	15.37:g.66842425G>C			Somatic				LCTL_uc002aqd.4_Silent_p.L341L|LCTL_uc010bhw.3_Intron	p.L514L	NM_207338	NP_997221	WXS	Illumina GAIIx	Phase_I	Q6UWM7	LCTL_HUMAN			11	1674	-			514					B3KQY0	Silent	SNP	ENST00000341509.5	37	c.1542C>G	CCDS10220.1																																																																																				0.308	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		3	61	0	0	0	1	0	3	61					C	66842425	G	C	66842425	2	2	7	1	0	0	0	0	0	0	0	1	8694	1277	45	4		4	LCTL	15	66842425	Silent	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		66842425	35688967	47	197											
BNC1	646	broad.mit.edu	37	15	83932102	83932102	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:83932102C>T	ENST00000345382.2	-	4	1986	c.1901G>A	c.(1900-1902)aGg>aAg	p.R634K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R627K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	634					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						CTCAGTCTCCCTCTCTGAATT	0.552																																						uc002bjt.1																			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.(1900-1902)aGg>aAg		Homo sapiens basonuclin 1 (BNC1), mRNA.							135	134	134					15																	83932102		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.chr15:83932102C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1901G>A	15.37:g.83932102C>T	ENSP00000307041:p.Arg634Lys		Somatic				BNC1_uc010uos.1_Missense_Mutation_p.R622K	p.R634K	NM_001717	NP_001708	WXS	Illumina GAIIx	Phase_I	Q01954	BNC1_HUMAN			3	1989	-			634					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.1901G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	9.228	1.035135	0.19590	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.39787	1.06	4.79	2.68	0.31781	.	0.400124	0.29253	N	0.012689	T	0.26846	0.0657	L	0.36672	1.1	0.25825	N	0.984235	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11891	-1.0569	10	0.18710	T	0.47	-10.6543	6.2829	0.21017	0.0:0.5882:0.0:0.4118	.	627;634	F5GY04;Q01954	.;BNC1_HUMAN	K	634;627	ENSP00000307041:R634K	ENSP00000307041:R634K	R	-	2	0	BNC1	81723106	1.000000	0.71417	0.977000	0.42913	0.454000	0.32378	1.536000	0.36072	1.126000	0.42016	0.655000	0.94253	AGG		0.552	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		5	175	0	0	0	1	0	5	175					T	83932102	C	T	83932102	3	4	7	1	0	0	0	0	1	0	0	0	1474	681	24	2	1091	2	BNC1	15	83932102	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	17089677	83932102	18599290	48	198											
ADAMTSL3	57188	broad.mit.edu	37	15	84582013	84582013	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr15:84582013G>A	ENST00000286744.5	+	16	2094	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A624T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	624	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCTGGAAGCATGTGATGA	0.617																																						uc002bjz.4																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1870-1872)Gca>Aca		Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.							58	51	53					15																	84582013		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84582013G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1870G>A	15.37:g.84582013G>A	ENSP00000286744:p.Ala624Thr		Somatic				ADAMTSL3_uc010bmt.1_Missense_Mutation_p.A624T	p.A624T	NM_207517	NP_997400	WXS	Illumina GAIIx	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		15	2094	+			624			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1870G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364191	0.41902	.	.	ENSG00000156218	ENST00000286744	T	0.61274	0.12	4.9	1.8	0.24995	.	0.365165	0.26010	N	0.026882	T	0.51363	0.1670	L	0.41961	1.31	0.28396	N	0.918866	B;P	0.40000	0.426;0.698	B;B	0.40825	0.287;0.341	T	0.53767	-0.8392	10	0.72032	D	0.01	.	14.1213	0.65189	0.0:0.6247:0.2727:0.1026	.	624;624	P82987-2;P82987	.;ATL3_HUMAN	T	624	ENSP00000286744:A624T	ENSP00000286744:A624T	A	+	1	0	ADAMTSL3	82373017	0.021000	0.18746	0.008000	0.14137	0.284000	0.27059	1.005000	0.29834	0.447000	0.26695	0.563000	0.77884	GCA		0.617	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		25	32	0	0	0	1	0	25	32					A	84582013	G	A	84582013	3	1	7	1	0	0	0	0	1	0	0	0	276	971	34	2	1928	2	ADAMTSL3	15	84582013	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	649911	84582013	17949379	49	199											
ITGAL	3683	broad.mit.edu	37	16	30521697	30521697	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:30521697C>T	ENST00000356798.6	+	22	2704	c.2524C>T	c.(2524-2526)Cct>Tct	p.P842S	ITGAL_ENST00000358164.5_Missense_Mutation_p.P758S|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	842					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TAGCCAGATACCTGTGAGCTG	0.557																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2524-2526)Cct>Tct		Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	Efalizumab(DB00095)						140	129	133					16																	30521697		2197	4300	6497	SO:0001583	missense	3683				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30521697C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2524C>T	16.37:g.30521697C>T	ENSP00000349252:p.Pro842Ser		Somatic				ITGAL_uc002dyj.4_Missense_Mutation_p.P758S|ITGAL_uc010vev.2_Intron	p.P842S	NM_002209	NP_002200	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			21	2700	+			842					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2524C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	11.92	1.782555	0.31502	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.41400	1.0;1.0	4.45	4.45	0.53987	Integrin alpha-2 (1);	0.000000	0.41823	D	0.000816	T	0.62708	0.2450	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.78314	0.882;0.991	T	0.62020	-0.6942	10	0.34782	T	0.22	.	13.3782	0.60752	0.0:1.0:0.0:0.0	.	758;842	Q96HB1;P20701	.;ITAL_HUMAN	S	842;758	ENSP00000349252:P842S;ENSP00000350886:P758S	ENSP00000349252:P842S	P	+	1	0	ITGAL	30429198	0.984000	0.35163	0.944000	0.38274	0.168000	0.22595	3.442000	0.52900	2.443000	0.82685	0.187000	0.17357	CCT		0.557	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			78	134	0	0	0	1	0	78	134					T	30521697	C	T	30521697	3	4	7	1	0	0	0	0	1	0	0	0	7886	507	18	2	2610	2	ITGAL	16	30521697	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		30521697	59833056	50	200											
ITGAD	3681	broad.mit.edu	37	16	31435803	31435803	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:31435803G>C	ENST00000389202.2	+	29	3326	c.3277G>C	c.(3277-3279)Gaa>Caa	p.E1093Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1093					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GATGGTGCTAGAAGAAGACGA	0.542																																						uc010cap.1																			0		p.E1094K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(3280-3282)Gaa>Caa		Homo sapiens integrin, alpha D (ITGAD), mRNA.							116	95	102					16																	31435803		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435803G>C	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3277G>C	16.37:g.31435803G>C	ENSP00000373854:p.Glu1093Gln		Somatic				ITGAD_uc002ebv.1_Missense_Mutation_p.E1093Q	p.E1094Q	NM_005353	NP_005344	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			28	3329	+			1093					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.3280G>C	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411474	0.62399	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.58652	0.32	5.15	5.15	0.70609	.	.	.	.	.	T	0.78110	0.4232	M	0.84846	2.72	0.20489	N	0.999891	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.70923	-0.4740	9	0.87932	D	0	.	14.1208	0.65186	0.0:0.0:1.0:0.0	.	1109;1093	Q59H14;Q13349	.;ITAD_HUMAN	Q	1109;1093	ENSP00000373854:E1093Q	ENSP00000373854:E1093Q	E	+	1	0	ITGAD	31343304	0.998000	0.40836	0.070000	0.20053	0.017000	0.09413	1.942000	0.40243	2.392000	0.81423	0.563000	0.77884	GAA		0.542	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	105	0	0	0	1	0	6	105					C	31435803	G	C	31435803	3	2	7	1	0	0	0	0	1	0	0	0	7884	943	33	4	3391	4	ITGAD	16	31435803	Missense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08	914106	31435803	58918950	51	201											
ADAMTS18	170692	broad.mit.edu	37	16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr16:77389861C>T	ENST00000282849.5	-	9	1854	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	479	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)	p.R479H(1)		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						GAGATACTGGCGGCTGCAGGA	0.488																																						uc002ffc.4																			1	Substitution - Missense(1)	p.R479H(2)	ovary(1)	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.(1435-1437)cGc>cAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							106	95	99					16																	77389861		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77389861C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1436G>A	16.37:g.77389861C>T	ENSP00000282849:p.Arg479His		Somatic				ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript	p.R479H	NM_199355	NP_955387	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			8	1855	-			479			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1436G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044901	0.75732	.	.	ENSG00000140873	ENST00000282849	T	0.08720	3.06	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.89163	3.01	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.36212	-0.9757	10	0.87932	D	0	.	13.4679	0.61266	0.0:0.9246:0.0:0.0754	.	479;479	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	479	ENSP00000282849:R479H	ENSP00000282849:R479H	R	-	2	0	ADAMTS18	75947362	1.000000	0.71417	0.910000	0.35882	0.335000	0.28730	5.859000	0.69539	1.561000	0.49584	0.655000	0.94253	CGC		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			46	58	0	0	0	1	0	46	58					T	77389861	C	T	77389861	3	4	7	1	0	0	0	0	1	0	0	0	263	768	27	1	2289	1	ADAMTS18	16	77389861	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	45954058	77389861	12964892	52	202											
C17orf74	201243	broad.mit.edu	37	17	7330441	7330441	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:7330441C>T	ENST00000333870.3	+	3	1205	c.1131C>T	c.(1129-1131)gaC>gaT	p.D377D	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	377						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCTCCCAGGACCCCCGTGAGG	0.682																																						uc002ggw.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1129-1131)gaC>gaT		Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.							27	35	32					17																	7330441		2102	4209	6311	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330441C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1131C>T	17.37:g.7330441C>T			Somatic				SPEM1_uc010vtw.1_Intron	p.D377D	NM_175734	NP_783861	WXS	Illumina GAIIx	Phase_I	Q0P670	CQ074_HUMAN			2	1204	+		Prostate(122;0.157)	377						Silent	SNP	ENST00000333870.3	37	c.1131C>T	CCDS42255.1																																																																																				0.682	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		10	27	0	0	0	1	0	10	27					T	7330441	C	T	7330441	2	4	7	1	0	0	0	0	0	0	0	1	1879	506	18	2		2	C17orf74	17	7330441	Silent	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		7330441	73864769	53	203											
TK1	7083	broad.mit.edu	37	17	76170913	76170913	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr17:76170913T>G	ENST00000301634.7	-	7	870	c.632A>C	c.(631-633)aAg>aCg	p.K211T	TK1_ENST00000590862.1_Intron|TK1_ENST00000405273.1_Missense_Mutation_p.K211T|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000588734.1_Missense_Mutation_p.K244T	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	211					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	TTCCCCTGGCTTTCCTGGCAC	0.632																																						uc002juw.2																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(631-633)aAg>aCg		Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.							43	41	42					17																	76170913		2203	4300	6503	SO:0001583	missense	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76170913T>G		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.632A>C	17.37:g.76170913T>G	ENSP00000301634:p.Lys211Thr		Somatic					p.K211T	NM_003258	NP_003249	WXS	Illumina GAIIx	Phase_I	P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	842	-			211					B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	c.632A>C	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	T	5.678	0.309615	0.10733	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.47	-0.134	0.13481	.	0.574682	0.19491	N	0.113000	T	0.23688	0.0573	L	0.29908	0.895	0.09310	N	1	B;B	0.27559	0.083;0.181	B;B	0.26416	0.022;0.069	T	0.17410	-1.0370	9	0.18710	T	0.47	-13.9362	6.0327	0.19688	0.0:0.3968:0.1407:0.4624	.	211;211	B5BU32;P04183	.;KITH_HUMAN	T	211	.	ENSP00000301634:K211T	K	-	2	0	TK1	73682508	0.484000	0.25964	0.016000	0.15963	0.030000	0.12068	0.294000	0.19047	-0.007000	0.14345	-0.290000	0.09829	AAG		0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		8	11	0	0	0	1	0	8	11					G	76170913	T	G	76170913	3	3	7	1	0	0	0	0	1	0	0	0	15929	1609	56	5	76	5	TK1	17	76170913	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08	68840472	76170913	5024297	54	204											
DNASE2	1777	broad.mit.edu	37	19	12991901	12991901	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:12991901T>C	ENST00000222219.3	-	2	244	c.152A>G	c.(151-153)tAc>tGc	p.Y51C	DNASE2_ENST00000538460.1_Missense_Mutation_p.Y51C|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	51					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGATACTTGTACTGCAGCCC	0.647																																						uc002mvn.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(151-153)tAc>tGc		Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.							38	43	41					19																	12991901		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding	g.chr19:12991901T>C	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.152A>G	19.37:g.12991901T>C	ENSP00000222219:p.Tyr51Cys		Somatic				DNASE2_uc010xmr.1_Missense_Mutation_p.Y51C	p.Y51C	NM_001375	NP_001366	WXS	Illumina GAIIx	Phase_I	O00115	DNS2A_HUMAN			1	298	-			51					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.152A>G	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231947	0.58777	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.16743	2.32;2.32	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.93062	3.375	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.62690	-0.6801	10	0.72032	D	0.01	.	13.3146	0.60399	0.0:0.0:0.0:1.0	.	51;51	B7Z4K6;O00115	.;DNS2A_HUMAN	C	51	ENSP00000222219:Y51C;ENSP00000445988:Y51C	ENSP00000222219:Y51C	Y	-	2	0	DNASE2	12852901	1.000000	0.71417	0.924000	0.36721	0.143000	0.21401	5.780000	0.68956	2.045000	0.60652	0.459000	0.35465	TAC		0.647	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			29	55	0	0	0	1	0	29	55					C	12991901	T	C	12991901	3	2	7	1	0	0	0	0	1	0	0	0	4664	1638	57	3	950	3	DNASE2	19	12991901	Missense_Mutation	SNP	T	TCGA-BJ-A0ZB-01A-11D-A10S-08		12991901	46137082	55	205											
EPS15L1	58513	broad.mit.edu	37	19	16548625	16548625	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:16548625C>T	ENST00000248070.6	-	5	404	c.265G>A	c.(265-267)Gtt>Att	p.V89I	EPS15L1_ENST00000455140.2_Missense_Mutation_p.V89I|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V89I|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V89I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V89I|EPS15L1_ENST00000602009.1_5'Flank	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	89	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCAAGGTAACTTCATGGCCA	0.468																																						uc002ndx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(265-267)Gtt>Att		Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.							123	104	111					19																	16548625		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16548625C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.265G>A	19.37:g.16548625C>T	ENSP00000248070:p.Val89Ile		Somatic				EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc002ndz.1_Missense_Mutation_p.V89I|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.V89I|EPS15L1_uc010eah.1_Missense_Mutation_p.V89I|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Missense_Mutation_p.V89I	p.V89I	NM_021235	NP_067058	WXS	Illumina GAIIx	Phase_I	Q9UBC2	EP15R_HUMAN			4	271	-			89			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.265G>A	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246378	0.39697	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.31510	1.9;1.91;1.49	5.02	3.98	0.46160	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.064527	0.64402	D	0.000007	T	0.20861	0.0502	N	0.16602	0.42	0.47819	D	0.999528	B;B;B;B;B	0.22541	0.005;0.071;0.053;0.005;0.004	B;B;B;B;B	0.29785	0.044;0.107;0.083;0.023;0.008	T	0.04723	-1.0931	10	0.23302	T	0.38	.	12.8143	0.57657	0.0:0.9206:0.0:0.0794	.	89;89;89;89;89	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	I	89	ENSP00000393313:V89I;ENSP00000248070:V89I;ENSP00000440103:V89I	ENSP00000248070:V89I	V	-	1	0	EPS15L1	16409625	0.860000	0.29831	0.771000	0.31576	0.901000	0.52897	1.607000	0.36836	1.120000	0.41904	0.561000	0.74099	GTT		0.468	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		7	53	0	0	0	1	0	7	53					T	16548625	C	T	16548625	3	4	7	1	0	0	0	0	1	0	0	0	5193	565	20	2	2405	2	EPS15L1	19	16548625	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	3556724	16548625	42580358	56	206											
KIR2DL1	3811	broad.mit.edu	37	19	55286820	55286820	+	Intron	SNP	C	C	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr19:55286820C>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.H192N|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.H192N|KIR2DL3_ENST00000434419.2_Intron			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)		CCCTGCCACCCACGGAGGGAC	0.567																																						uc010erz.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(574-576)Cac>Aac		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.							136	148	144					19																	55286820		2101	4166	6267	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55286820C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42169C>A	19.37:g.55286820C>A			Somatic				KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.H192N	p.H192N	NM_014218	NP_055033	WXS	Illumina GAIIx	Phase_I	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	612	+			192			Ig-like C2-type 2.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.574C>A		.	.	.	.	.	.	.	.	.	.	C	11.24	1.579883	0.28180	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.21932	1.98;1.98	1.1	-0.0407	0.13871	.	.	.	.	.	T	0.40886	0.1135	M	0.88181	2.935	0.09310	N	1	P;P	0.48764	0.878;0.915	P;P	0.58331	0.802;0.837	T	0.24835	-1.0149	9	0.87932	D	0	.	3.4299	0.07425	0.0:0.7035:0.0:0.2965	.	192;192	Q6IST4;Q6H2H3	.;.	N	192	ENSP00000336769:H192N;ENSP00000291633:H192N	ENSP00000291633:H192N	H	+	1	0	KIR2DL1	59978632	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.264000	0.18497	0.045000	0.15804	0.184000	0.17185	CAC		0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		8	148	0	0	0	1	0	8	148					A	55286820	C	A	55286820	1	1	7	0	1	0	0	0	0	0	0	0	8316	594	21	4		4	KIR2DL1	19	55286820	Intron	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08	38738195	55286820	3842163	57	207											
SFRS15	57466	broad.mit.edu	37	21	33043813	33043813	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chr21:33043813C>G	ENST00000286835.7	-	20	3725	c.3343G>C	c.(3343-3345)Gag>Cag	p.E1115Q	SCAF4_ENST00000399804.1_Missense_Mutation_p.E1093Q|SCAF4_ENST00000434667.3_Missense_Mutation_p.E1100Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1115						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACTGCAGCCTCAGACACCCCC	0.517																																						uc002ypd.2																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3343-3345)Gag>Cag		Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.							117	109	112					21																	33043813		2203	4300	6503	SO:0001583	missense	57466					nucleus	RNA binding|nucleotide binding	g.chr21:33043813C>G	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3343G>C	21.37:g.33043813C>G	ENSP00000286835:p.Glu1115Gln		Somatic				SCAF4_uc002ype.2_Missense_Mutation_p.E1093Q|SCAF4_uc010glu.2_Missense_Mutation_p.E1100Q	p.E1115Q	NM_020706	NP_065757	WXS	Illumina GAIIx	Phase_I	O95104	SFR15_HUMAN			19	3769	-			1115					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.3343G>C	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010574	0.19277	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.22134	1.97;1.97;1.97	5.09	3.95	0.45737	.	0.121046	0.35903	N	0.002914	T	0.18882	0.0453	N	0.24115	0.695	0.23809	N	0.996782	P;B;B	0.34546	0.456;0.023;0.013	B;B;B	0.43225	0.412;0.049;0.022	T	0.16512	-1.0400	10	0.30078	T	0.28	-3.7783	11.7068	0.51601	0.0:0.8887:0.0:0.1113	.	1100;1093;1115	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	Q	1100;1115;1093	ENSP00000402377:E1100Q;ENSP00000286835:E1115Q;ENSP00000382703:E1093Q	ENSP00000286835:E1115Q	E	-	1	0	SCAF4	31965684	0.469000	0.25846	0.271000	0.24616	0.474000	0.32979	0.792000	0.26929	1.132000	0.42129	0.655000	0.94253	GAG		0.517	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		7	100	0	0	0	1	0	7	100					G	33043813	C	G	33043813	3	3	7	1	0	0	0	0	1	0	0	0	14171	835	29	4	104	4	SFRS15	21	33043813	Missense_Mutation	SNP	C	TCGA-BJ-A0ZB-01A-11D-A10S-08		33043813	15086082	58	208											
ARHGAP6	395	broad.mit.edu	37	X	11200233	11200233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:11200233G>A	ENST00000337414.4	-	6	2151	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.Q224*|ARHGAP6_ENST00000534860.1_Nonsense_Mutation_p.Q252*|ARHGAP6_ENST00000491514.1_5'Flank|ARHGAP6_ENST00000380732.3_Nonsense_Mutation_p.Q459*|ARHGAP6_ENST00000380718.1_Nonsense_Mutation_p.Q427*|ARHGAP6_ENST00000413512.3_Nonsense_Mutation_p.Q236*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.Q224*	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCACTGTCTGGAGGCCTGCA	0.398																																						uc004cup.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1279-1281)Cag>Tag		Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.							159	152	155					X																	11200233		2203	4300	6503	SO:0001587	stop_gained	395				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding	g.chrX:11200233G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1279C>T	X.37:g.11200233G>A	ENSP00000338967:p.Gln427*		Somatic				ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Nonsense_Mutation_p.Q427*|ARHGAP6_uc004cum.1_Nonsense_Mutation_p.Q224*|ARHGAP6_uc004cun.1_Nonsense_Mutation_p.Q247*|ARHGAP6_uc010neb.1_Nonsense_Mutation_p.Q249*|ARHGAP6_uc011mif.1_Nonsense_Mutation_p.Q224*	p.Q427*	NM_013427	NP_038286	WXS	Illumina GAIIx	Phase_I	O43182	RHG06_HUMAN			5	2152	-			427			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Nonsense_Mutation	SNP	ENST00000337414.4	37	c.1279C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	48	14.538669	0.99800	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	.	.	.	5.66	5.66	0.87406	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	.	.	.	X	252;224;224;427;263;427;236;459	.	ENSP00000302312:Q224X	Q	-	1	0	ARHGAP6	11110154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.027000	0.93706	2.385000	0.81259	0.600000	0.82982	CAG		0.398	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		6	165	0	0	0	1	0	6	165					A	11200233	G	A	11200233	4	1	7	1	0	0	0	0	0	1	0	0	887	1357	47	2	1799	2	ARHGAP6	23	11200233	Nonsense_Mutation	SNP	G	TCGA-BJ-A0ZB-01A-11D-A10S-08		11200233	144070327	59	209											
TEX11	56159	broad.mit.edu	37	X	70053437	70053438	+	Frame_Shift_Ins	INS	-	-	AACT			TCGA-BJ-A0ZB-01A-11D-A10S-08	TCGA-BJ-A0ZB-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	add0b0f6-b4a8-4b73-b634-c3600dc567d5	d078cbf9-7e5f-47cb-9f33-725a33f31c1b	g.chrX:70053437_70053438insAACT	ENST00000395889.2	-	9	731_732	c.576_577insAGTT	c.(574-579)gttgctfs	p.A193fs	TEX11_ENST00000344304.3_Frame_Shift_Ins_p.A193fs|TEX11_ENST00000374333.2_Frame_Shift_Ins_p.A178fs	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	193					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCCCTTGAGCAACTGCCTGAA	0.356																																						uc004dyl.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(574-579)gttgctfs		Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	56159						protein binding	g.chrX:70053437_70053438insAACT	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.573_576dupAGTT	X.37:g.70053438_70053441dupAACT	ENSP00000379226:p.Ala193fs		Somatic				TEX11_uc004dym.3_Frame_Shift_Ins_p.V177fs	p.V192fs	NM_001003811	NP_001003811	WXS	Illumina GAIIx	Phase_I	Q8IYF3	TEX11_HUMAN			8	738_739	-	Renal(35;0.156)		192					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Frame_Shift_Ins	INS	ENST00000395889.2	37	c.576_577insAGTT	CCDS35323.1																																																																																				0.356	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			23	11						23	11	---	---	---	---	AACT	70053438	-	AACT	70053437	7	5	7	1	0	1	1	0	0	0	0	0	15771	710	25	0	2337	0	TEX11	23	70053437	Frame_Shift_Ins	INS	-	TCGA-BJ-A0ZB-01A-11D-A10S-08	58853204	70053437	85217123	60	210											
AMIGO1	57463	broad.mit.edu	37	1	110050830	110050830	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:110050830G>A	ENST00000369864.4	-	2	1054	c.705C>T	c.(703-705)caC>caT	p.H235H	AMIGO1_ENST00000369862.1_Silent_p.H235H					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_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;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATACTGCCAGTGTGAAAACA	0.517																																						uc001dxx.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(703-705)caC>caT		Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.							74	73	73					1																	110050830		2203	4300	6503	SO:0001819	synonymous_variant	57463				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		g.chr1:110050830G>A		CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"Immunoglobulin superfamily / V-set domain containing"	20824	protein-coding gene	gene with protein product	"amphoterin-induced gene and open reading frame"	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.705C>T	1.37:g.110050830G>A			Somatic				AMIGO1_uc021org.1_Silent_p.H235H	p.H235H	NM_020703	NP_065754	WXS	Illumina GAIIx	Phase_I	Q86WK6	AMGO1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	1	1087	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	235			LRRCT.			Silent	SNP	ENST00000369864.4	37	c.705C>T	CCDS30795.1																																																																																				0.517	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703		3	83	0	0	0	1	0	3	83					A	110050830	G	A	110050830	2	1	8	1	0	0	0	0	0	0	0	1	575	1020	36	2		2	AMIGO1	1	110050830	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		110050830	139199791	1	211											
RC3H1	149041	broad.mit.edu	37	1	173934152	173934152	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr1:173934152C>T	ENST00000367696.2	-	10	1792	c.1441G>A	c.(1441-1443)Ggt>Agt	p.G481S	RC3H1_ENST00000258349.4_Missense_Mutation_p.G481S|RC3H1_ENST00000367694.2_Missense_Mutation_p.G481S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	481					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCCACTGCACCTTCATCTGGA	0.498																																						uc010pmt.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(1441-1443)Ggt>Agt		Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.							124	114	117					1																	173934152		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173934152C>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1441G>A	1.37:g.173934152C>T	ENSP00000356669:p.Gly481Ser		Somatic				RC3H1_uc001gju.4_Missense_Mutation_p.G481S|RC3H1_uc010pms.2_Missense_Mutation_p.G481S|RC3H1_uc001gjv.3_Missense_Mutation_p.G481S	p.G481S	NM_172071	NP_742068	WXS	Illumina GAIIx	Phase_I	Q5TC82	RC3H1_HUMAN			8	1528	-			481					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1441G>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046210	0.55110	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.48522	0.81;0.81;0.82	5.8	1.81	0.25067	.	0.415206	0.30704	N	0.009059	T	0.38188	0.1031	L	0.55481	1.735	0.42273	D	0.992069	B;B;B;B	0.12013	0.005;0.002;0.001;0.0	B;B;B;B	0.12156	0.004;0.004;0.007;0.003	T	0.13872	-1.0493	10	0.42905	T	0.14	-0.1841	6.7272	0.23363	0.1257:0.6711:0.0:0.2032	.	481;481;481;481	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	S	481	ENSP00000356669:G481S;ENSP00000258349:G481S;ENSP00000356667:G481S	ENSP00000258349:G481S	G	-	1	0	RC3H1	172200775	0.993000	0.37304	0.996000	0.52242	0.991000	0.79684	1.030000	0.30153	0.073000	0.16731	0.655000	0.94253	GGT		0.498	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		3	121	0	0	0	1	0	3	121					T	173934152	C	T	173934152	3	4	8	1	0	0	0	0	1	0	0	0	13166	681	24	2	2004	2	RC3H1	1	173934152	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	63883322	173934152	75316469	2	212											
NPR3	4883	broad.mit.edu	37	5	32774825	32774825	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:32774825T>C	ENST00000265074.8	+	4	1414	c.1071T>C	c.(1069-1071)ttT>ttC	p.F357F	NPR3_ENST00000415167.2_Silent_p.F357F|NPR3_ENST00000415685.2_Silent_p.F141F|NPR3_ENST00000434067.2_Silent_p.F141F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	357					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTAACATGTTTGTTGAAGGAT	0.433																																						uc003jhv.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1069-1071)ttT>ttC		Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	Nesiritide(DB04899)						192	185	187					5																	32774825		1899	4102	6001	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774825T>C		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1071T>C	5.37:g.32774825T>C			Somatic				NPR3_uc010iuo.3_Silent_p.F141F|NPR3_uc003jhw.2_Silent_p.F141F|NPR3_uc003jhu.3_Silent_p.F357F	p.F357F	NM_001204375	NP_001191304	WXS	Illumina GAIIx	Phase_I	P17342	ANPRC_HUMAN			3	1516	+			357					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.1071T>C	CCDS56357.1																																																																																				0.433	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		6	282	0	0	0	1	0	6	282					C	32774825	T	C	32774825	2	2	8	1	0	0	0	0	0	0	0	1	10596	1809	63	3		3	NPR3	5	32774825	Silent	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		32774825	148140435	3	213											
RNF14	9604	broad.mit.edu	37	5	141364442	141364442	+	Silent	SNP	C	C	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr5:141364442C>G	ENST00000394520.2	+	8	1620	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	RNF14_ENST00000394519.1_Silent_p.L437L|RNF14_ENST00000347642.3_Silent_p.L437L|RNF14_ENST00000394515.3_Silent_p.L261L|RNF14_ENST00000356143.1_Silent_p.L437L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Silent_p.L311L|RNF14_ENST00000540015.1_Silent_p.L134L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	437	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGGGTTCTCTCTCTAGAGCAA	0.403																																						uc003llz.3																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1309-1311)ctC>ctG		Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.							131	123	125					5																	141364442		2203	4300	6503	SO:0001819	synonymous_variant	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141364442C>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"RING-type (C3HC4) zinc fingers"	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1311C>G	5.37:g.141364442C>G			Somatic				RNF14_uc003lly.3_Silent_p.L437L|RNF14_uc003lma.3_Silent_p.L437L|RNF14_uc003lmb.3_Silent_p.L311L|RNF14_uc003lmc.3_Silent_p.L437L|RNF14_uc011dbg.2_Silent_p.L261L|RNF14_uc011dbh.2_Silent_p.L134L|RNF14_uc003lmd.3_Silent_p.L437L	p.L437L	NM_001201365	NP_001188294	WXS	Illumina GAIIx	Phase_I	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	7	1559	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	437			Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP	ENST00000394520.2	37	c.1311C>G	CCDS4270.1																																																																																				0.403	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		4	229	0	0	0	1	0	4	229					G	141364442	C	G	141364442	2	3	8	1	0	0	0	0	0	0	0	1	13443	900	32	4		4	RNF14	5	141364442	Silent	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	108589617	141364442	39550818	4	214											
FOXQ1	94234	broad.mit.edu	37	6	1313344	1313344	+	Silent	SNP	G	G	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:1313344G>T	ENST00000296839.2	+	1	670	c.405G>T	c.(403-405)tcG>tcT	p.S135S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCCGCGACTCGGCGGGCGGGC	0.687																																						uc003mtl.4																			0		p.S135L(1)		lung(1)|urinary_tract(1)	2						c.(403-405)tcG>tcT		Homo sapiens forkhead box Q1 (FOXQ1), mRNA.							26	30	28					6																	1313344		2153	4214	6367	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding	g.chr6:1313344G>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.405G>T	6.37:g.1313344G>T			Somatic					p.S135S	NM_033260	NP_150285	WXS	Illumina GAIIx	Phase_I	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	0	670	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	135					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.405G>T	CCDS4471.1																																																																																				0.687	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		3	18	0	0	0	1	0	3	18					T	1313344	G	T	1313344	2	4	8	1	0	0	0	0	0	0	0	1	6030	1103	39	4		4	FOXQ1	6	1313344	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		1313344	169801723	5	215											
HIST1H4L	8368	broad.mit.edu	37	6	27841025	27841025	+	Silent	SNP	A	A	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr6:27841025A>T	ENST00000355981.2	-	1	264	c.264T>A	c.(262-264)gtT>gtA	p.V88V	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	88					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAGCGCGTAAACCACGTCCA	0.542																																						uc003njz.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(262-264)gtT>gtA		Homo sapiens histone cluster 1, H4l (HIST1H4L), mRNA.							92	85	87					6																	27841025		2203	4300	6503	SO:0001819	synonymous_variant	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841025A>T	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"Histones / Replication-dependent"	4791	protein-coding gene	gene with protein product		602831	"H4 histone family, member K", "histone 1, H4l"	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.264T>A	6.37:g.27841025A>T			Somatic				HIST1H3I_uc003njy.3_5'Flank	p.V88V	NM_003546	NP_778224	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			0	265	-			88					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000355981.2	37	c.264T>A	CCDS4637.1																																																																																				0.542	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		36	48	0	0	0	1	0	36	48					T	27841025	A	T	27841025	2	4	8	1	0	0	0	0	0	0	0	1	7176	1	1	5		5	HIST1H4L	6	27841025	Silent	SNP	A	TCGA-BJ-A0ZC-01A-12D-A13W-08	26527681	27841025	143274042	6	216											
RBPMS	11030	broad.mit.edu	37	8	30361916	30361916	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:30361916G>A	ENST00000320203.4	+	5	942	c.360G>A	c.(358-360)ctG>ctA	p.L120L	RBPMS_ENST00000538486.1_Silent_p.L120L|RBPMS_ENST00000339877.4_Silent_p.L120L|RBPMS_ENST00000520191.1_Silent_p.L16L|RBPMS_ENST00000397323.4_Silent_p.L120L|RBPMS_ENST00000520161.1_Silent_p.L16L|RBPMS_ENST00000517860.1_Silent_p.L120L|RBPMS_ENST00000519647.1_Silent_p.L16L|RBPMS_ENST00000287771.5_Silent_p.L120L	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	120					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GTACTCCTCTGCCCAACACTG	0.433																																						uc011lba.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(358-360)ctG>ctA		Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA.							153	130	138					8																	30361916		2203	4300	6503	SO:0001819	synonymous_variant	11030				RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30361916G>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"RNA binding motif (RRM) containing"	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.360G>A	8.37:g.30361916G>A			Somatic				RBPMS_uc003xic.1_Silent_p.L120L|RBPMS_uc003xid.1_Silent_p.L120L|RBPMS_uc003xie.1_Silent_p.L120L|RBPMS_uc003xif.1_Non-coding_Transcript|RBPMS_uc003xib.3_Silent_p.L120L|RBPMS_uc010lvh.1_Silent_p.L16L	p.L120L	NM_006867	NP_006858	WXS	Illumina GAIIx	Phase_I	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	4	1025	+			120					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.360G>A	CCDS6077.1																																																																																				0.433	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			12	131	0	0	0	1	0	12	131					A	30361916	G	A	30361916	2	1	8	1	0	0	0	0	0	0	0	1	13163	1306	46	2		2	RBPMS	8	30361916	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		30361916	116002106	7	217											
RALYL	138046	broad.mit.edu	37	8	85785580	85785580	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr8:85785580C>G	ENST00000521268.1	+	7	1738	c.633C>G	c.(631-633)gaC>gaG	p.D211E	RALYL_ENST00000518566.1_Missense_Mutation_p.D200E|RALYL_ENST00000517638.1_Missense_Mutation_p.D224E|RALYL_ENST00000521376.1_Missense_Mutation_p.D122E|RALYL_ENST00000521695.1_Missense_Mutation_p.D211E|RALYL_ENST00000523850.1_Missense_Mutation_p.D138E|RALYL_ENST00000522455.1_Missense_Mutation_p.D211E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	211							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTAAAATTGACTCCTTGCTAG	0.428																																						uc003yct.4																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(670-672)gaC>gaG		Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.							67	63	64					8																	85785580		1880	4104	5984	SO:0001583	missense	138046						RNA binding|identical protein binding|nucleotide binding	g.chr8:85785580C>G		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.633C>G	8.37:g.85785580C>G	ENSP00000430367:p.Asp211Glu		Somatic				RALYL_uc003ycq.4_Missense_Mutation_p.D211E|RALYL_uc003ycr.4_Missense_Mutation_p.D211E|RALYL_uc003ycs.4_Missense_Mutation_p.D211E|RALYL_uc010lzy.3_Missense_Mutation_p.D200E|RALYL_uc003ycu.4_Missense_Mutation_p.D138E	p.D224E	NM_001100391	NP_776247	WXS	Illumina GAIIx	Phase_I	Q86SE5	RALYL_HUMAN			6	806	+			211					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.672C>G	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568118	0.86439	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.34275	1.97;1.97;1.97;1.94;1.92;1.4;1.37	6.16	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	M	0.71581	2.175	0.37017	D	0.896006	P;P;D;D;P	0.89917	0.93;0.709;1.0;0.967;0.709	P;B;D;P;B	0.83275	0.668;0.412;0.996;0.822;0.412	T	0.67162	-0.5740	10	0.66056	D	0.02	-12.513	12.4099	0.55461	0.0:0.8661:0.0:0.1339	.	200;211;138;224;211	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	E	211;211;211;200;224;138;122	ENSP00000430394:D211E;ENSP00000428667:D211E;ENSP00000430367:D211E;ENSP00000430065:D200E;ENSP00000430128:D224E;ENSP00000428807:D138E;ENSP00000428310:D122E	ENSP00000430128:D224E	D	+	3	2	RALYL	85948135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.679000	0.61649	1.623000	0.50342	0.650000	0.86243	GAC		0.428	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			2	14	0	0	0	1	0	2	14					G	85785580	C	G	85785580	3	3	8	1	0	0	0	0	1	0	0	0	13020	564	20	4	698	4	RALYL	8	85785580	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08	55423664	85785580	60578442	8	218											
ALAD	210	broad.mit.edu	37	9	116151734	116151734	+	Missense_Mutation	SNP	C	C	A	rs201865229		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr9:116151734C>A	ENST00000409155.3	-	10	981	c.785G>T	c.(784-786)cGg>cTg	p.R262L	ALAD_ENST00000277315.5_Missense_Mutation_p.R245L|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	262					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CTTTACCTCCCGCACGATGTC	0.567																																						uc004bhl.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9						c.(871-873)cGg>cTg		Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	Aminolevulinic acid(DB00855)						115	110	112					9																	116151734		2203	4300	6503	SO:0001583	missense	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116151734C>A	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"porphobilinogen synthase"	125270	"aminolevulinate, delta-, dehydratase"			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.785G>T	9.37:g.116151734C>A	ENSP00000386284:p.Arg262Leu		Somatic				ALAD_uc011lxe.2_Missense_Mutation_p.R245L|ALAD_uc011lxf.2_Missense_Mutation_p.R262L	p.R291L			WXS	Illumina GAIIx	Phase_I	P13716	HEM2_HUMAN			9	1153	-			262					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.872G>T	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726558	0.89298	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.87887	-2.31;-2.31	5.56	4.66	0.58398	Aldolase-type TIM barrel (1);	0.048090	0.85682	D	0.000000	D	0.93939	0.8060	M	0.93898	3.47	0.80722	D	1	P;P;P	0.52463	0.872;0.883;0.953	P;P;P	0.57776	0.615;0.773;0.827	D	0.94964	0.8111	10	0.72032	D	0.01	-9.6272	13.888	0.63721	0.0:0.9259:0.0:0.0741	.	262;245;291	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	L	262;245	ENSP00000386284:R262L;ENSP00000277315:R245L	ENSP00000277315:R245L	R	-	2	0	ALAD	115191555	1.000000	0.71417	0.973000	0.42090	0.922000	0.55478	5.657000	0.67996	1.308000	0.44962	0.655000	0.94253	CGG		0.567	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		3	77	0	0	0	1	0	3	77					A	116151734	C	A	116151734	3	1	8	1	0	0	0	0	1	0	0	0	483	652	23	4	219	4	ALAD	9	116151734	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		116151734	25061697	9	219											
PHF21A	51317	broad.mit.edu	37	11	45959840	45959840	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr11:45959840G>A	ENST00000418153.2	-	15	1672	c.1473C>T	c.(1471-1473)tgC>tgT	p.C491C	PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Silent_p.C445C|PHF21A_ENST00000257821.4_Silent_p.C492C			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	491	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGCAAACGCTGCAAAAATCCT	0.393																																						uc001ncc.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1471-1473)tgC>tgT		Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.							81	77	78					11																	45959840		2202	4299	6501	SO:0001819	synonymous_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45959840G>A	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1473C>T	11.37:g.45959840G>A			Somatic				PHF21A_uc001ncb.4_Silent_p.C445C|PHF21A_uc009ykx.3_Silent_p.C445C|PHF21A_uc001nca.1_Silent_p.C227C	p.C491C	NM_001101802	NP_001095272	WXS	Illumina GAIIx	Phase_I	Q96BD5	PF21A_HUMAN			14	2097	-			491			Required for transcriptional repression.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	c.1473C>T	CCDS44578.1																																																																																				0.393	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		4	94	0	0	0	1	0	4	94					A	45959840	G	A	45959840	2	1	8	1	0	0	0	0	0	0	0	1	11833	1311	46	2		2	PHF21A	11	45959840	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		45959840	89046676	10	220											
ASAM	79827	broad.mit.edu	37	11	122968529	122968529	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr11:122968529T>C	ENST00000448775.2	-	2	500	c.160A>G	c.(160-162)Acc>Gcc	p.T54A		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	54	Ig-like C2-type 1.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TCATTATCGGTGAGCAGCCAT	0.493																																						uc001pyt.3																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(160-162)Acc>Gcc		Homo sapiens CXADR-like membrane protein (CLMP), mRNA.							161	156	157					11																	122968529		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122968529T>C	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24039	protein-coding gene	gene with protein product	"adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule"	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.160A>G	11.37:g.122968529T>C	ENSP00000405577:p.Thr54Ala		Somatic					p.T54A	NM_024769	NP_079045	WXS	Illumina GAIIx	Phase_I	Q9H6B4	CLMP_HUMAN			1	519	-			54			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000448775.2	37	c.160A>G	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567039	0.45694	.	.	ENSG00000166250	ENST00000448775	D	0.94232	-3.38	5.34	5.34	0.76211	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.369558	0.30109	N	0.010383	D	0.87892	0.6292	L	0.39898	1.24	0.30160	N	0.802307	B	0.28820	0.224	B	0.31495	0.131	T	0.77988	-0.2380	10	0.05833	T	0.94	.	10.8487	0.46757	0.0:0.0:0.1574:0.8426	.	54	Q9H6B4	CLMP_HUMAN	A	54	ENSP00000405577:T54A	ENSP00000405577:T54A	T	-	1	0	CLMP	122473739	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	2.210000	0.42816	2.161000	0.67846	0.379000	0.24179	ACC		0.493	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769		4	124	0	0	0	1	0	4	124					C	122968529	T	C	122968529	3	2	8	1	0	0	0	0	1	0	0	0	1009	1696	59	3	985	3	ASAM	11	122968529	Missense_Mutation	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08	77008689	122968529	12037987	11	221											
DDX51	317781	broad.mit.edu	37	12	132626093	132626093	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr12:132626093C>G	ENST00000397333.3	-	7	1092	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	352	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		TCGATGTGGTCCACCAGGCGG	0.647																																						uc001ujy.4																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1054-1056)Gac>Cac		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.							39	51	47					12																	132626093		2019	4173	6192	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626093C>G	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1054G>C	12.37:g.132626093C>G	ENSP00000380495:p.Asp352His		Somatic				NOC4L_uc001ujz.1_5'Flank	p.D352H	NM_175066	NP_778236	WXS	Illumina GAIIx	Phase_I	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	6	1093	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	352			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1054G>C	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713240	0.89112	.	.	ENSG00000185163	ENST00000397333	T	0.06687	3.27	4.97	4.97	0.65823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.67517	2.055	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.00936	-1.1508	10	0.87932	D	0	-29.3003	15.7486	0.77967	0.0:1.0:0.0:0.0	.	352	Q8N8A6	DDX51_HUMAN	H	352	ENSP00000380495:D352H	ENSP00000380495:D352H	D	-	1	0	DDX51	131192046	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.133000	0.77259	2.312000	0.78011	0.591000	0.81541	GAC		0.647	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		3	38	0	0	0	1	0	3	38					G	132626093	C	G	132626093	3	3	8	1	0	0	0	0	1	0	0	0	4369	855	30	4	982	4	DDX51	12	132626093	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		132626093	1225802	12	222											
AP4S1	11154	broad.mit.edu	37	14	31553973	31553973	+	Intron	SNP	A	A	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:31553973A>T	ENST00000542754.2	+	5	699				AP4S1_ENST00000334725.4_Splice_Site|AP4S1_ENST00000216366.4_Splice_Site|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554345.1_Splice_Site|AP4S1_ENST00000554609.1_Intron	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit							coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TGTTTTTTTTAGGAACCAATT	0.413																																					Pancreas(128;620 2365 4508 44145)	uc001wqw.4																			0				lung(1)	1						c.e6-2		Homo sapiens adaptor-related protein complex 4, sigma 1 subunit (AP4S1), transcript variant 1, mRNA.							53	56	55					14																	31553973		2203	4300	6503	SO:0001627	intron_variant	11154					Golgi apparatus|coated pit	protein transporter activity	g.chr14:31553973A>T	AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.306+4183A>T	14.37:g.31553973A>T			Somatic				AP4S1_uc021rry.1_Intron|AP4S1_uc001wqx.4_Splice_Site|AP4S1_uc010amh.3_Splice_Site_p.E99_splice|AP4S1_uc001wqy.4_Intron|AP4S1_uc021rrz.1_Intron	p.E123_splice	NM_007077	NP_009008	WXS	Illumina GAIIx	Phase_I	Q9Y587	AP4S1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)	6	756	+	Hepatocellular(127;0.0877)|Breast(36;0.176)		21					G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Splice_Site	SNP	ENST00000542754.2	37	c.367_splice	CCDS45093.1	.	.	.	.	.	.	.	.	.	.	A	6.598	0.478645	0.12521	.	.	ENSG00000100478	ENST00000216366;ENST00000554345	.	.	.	3.62	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4195	0.21736	0.4226:0.0:0.0:0.5774	.	.	.	.	.	-1	.	.	.	+	.	.	AP4S1	30623724	0.225000	0.23685	0.000000	0.03702	0.008000	0.06430	0.169000	0.16641	0.200000	0.20447	0.459000	0.35465	.		0.413	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409723.1			4	133	0	0	0	1	0	4	133					T	31553973	A	T	31553973	1	4	8	0	1	0	0	0	0	0	0	0	754	434	15	5		5	AP4S1	14	31553973	Intron	SNP	A	TCGA-BJ-A0ZC-01A-12D-A13W-08		31553973	75795567	13	223											
SMOC1	64093	broad.mit.edu	37	14	70477484	70477484	+	Silent	SNP	G	G	A	rs546621996		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr14:70477484G>A	ENST00000381280.4	+	8	931	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SMOC1_ENST00000361956.3_Silent_p.S226S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	226	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AAGTCTATTCGTGTGACCAGG	0.527													G|||	1	0.000199681	0	0	5008	,	,		20577	0		0	False		,,,				2504	0.001					uc001xlt.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(676-678)tcG>tcA		Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.							101	107	105					14																	70477484		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477484G>A	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.678G>A	14.37:g.70477484G>A			Somatic				SMOC1_uc001xls.2_Silent_p.S226S	p.S226S	NM_001034852	NP_001030024	WXS	Illumina GAIIx	Phase_I	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	7	960	+			226			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.678G>A	CCDS9798.1																																																																																				0.527	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			4	122	0	0	0	1	0	4	122					A	70477484	G	A	70477484	2	1	8	1	0	0	0	0	0	0	0	1	14801	1132	40	1		1	SMOC1	14	70477484	Silent	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08	38923511	70477484	36872056	14	224											
PIK3R5	23533	broad.mit.edu	37	17	8808196	8808196	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:8808196T>C	ENST00000447110.1	-	5	434	c.310A>G	c.(310-312)Aag>Gag	p.K104E	PIK3R5_ENST00000584803.1_Missense_Mutation_p.K104E|PIK3R5_ENST00000581552.1_Missense_Mutation_p.K104E	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	104					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						CTGGCTGCCTTCAGAAGGAGA	0.552																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			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.(310-312)Aag>Gag		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.							122	107	112					17																	8808196		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8808196T>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.310A>G	17.37:g.8808196T>C	ENSP00000392812:p.Lys104Glu		Somatic				PIK3R5_uc010vuz.2_Missense_Mutation_p.K104E|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	p.K104E	NM_014308	NP_001238784	WXS	Illumina GAIIx	Phase_I	Q8WYR1	PI3R5_HUMAN			4	377	-			104					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.310A>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001631	0.35320	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.80994	-1.44;-1.44	4.75	2.26	0.28386	.	0.224065	0.46145	D	0.000315	T	0.64023	0.2561	N	0.12746	0.255	0.42617	D	0.993337	B	0.17852	0.024	B	0.25614	0.062	T	0.57260	-0.7842	10	0.39692	T	0.17	-9.421	9.9615	0.41699	0.0:0.0:0.3268:0.6732	.	104	Q8WYR1	PI3R5_HUMAN	E	104	ENSP00000269300:K104E;ENSP00000392812:K104E	ENSP00000269300:K104E	K	-	1	0	PIK3R5	8748921	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.691000	0.47010	0.746000	0.32786	0.524000	0.50904	AAG		0.552	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		27	50	0	0	0	1	0	27	50					C	8808196	T	C	8808196	3	2	8	1	0	0	0	0	1	0	0	0	11922	1792	62	3	2392	3	PIK3R5	17	8808196	Missense_Mutation	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		8808196	72387014	15	225											
TBC1D16	125058	broad.mit.edu	37	17	77926612	77926612	+	Missense_Mutation	SNP	G	G	T	rs559517523		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr17:77926612G>T	ENST00000310924.2	-	4	900	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	TBC1D16_ENST00000576768.1_5'Flank|TBC1D16_ENST00000340848.7_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000570373.1_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	262	Ser-rich.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGAGCTGGACGGGGGGCTGGT	0.657																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(784-786)cCg>cAg		Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.							25	29	27					17																	77926612		2197	4282	6479	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77926612G>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.785C>A	17.37:g.77926612G>T	ENSP00000309794:p.Pro262Gln		Somatic				TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank	p.P262Q	NM_019020	NP_061893	WXS	Illumina GAIIx	Phase_I	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		3	901	-	all_neural(118;0.167)		262			Ser-rich.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.785C>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335469	0.24253	.	.	ENSG00000167291	ENST00000310924	T	0.07567	3.18	5.3	5.3	0.74995	.	0.463064	0.21532	N	0.073035	T	0.10337	0.0253	L	0.44542	1.39	0.80722	D	1	P	0.39847	0.691	B	0.40741	0.339	T	0.13229	-1.0517	10	0.33940	T	0.23	-41.7925	13.3822	0.60773	0.0:0.1578:0.8422:0.0	.	262	Q8TBP0	TBC16_HUMAN	Q	262	ENSP00000309794:P262Q	ENSP00000309794:P262Q	P	-	2	0	TBC1D16	75541207	1.000000	0.71417	0.970000	0.41538	0.082000	0.17680	7.201000	0.77847	2.472000	0.83506	0.655000	0.94253	CCG		0.657	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		3	42	0	0	0	1	0	3	42					T	77926612	G	T	77926612	3	4	8	1	0	0	0	0	1	0	0	0	15602	1116	39	4	1554	4	TBC1D16	17	77926612	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08	69118416	77926612	3268598	16	226											
APCDD1	147495	broad.mit.edu	37	18	10485461	10485461	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr18:10485461C>A	ENST00000355285.5	+	4	1131	c.777C>A	c.(775-777)aaC>aaA	p.N259K	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGCTTCAGAACCACGACCATG	0.577																																						uc002kom.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(775-777)aaC>aaA		Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.							106	100	102					18																	10485461		2203	4300	6503	SO:0001583	missense	147495				Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10485461C>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.777C>A	18.37:g.10485461C>A	ENSP00000347433:p.Asn259Lys		Somatic					p.N259K	NM_153000	NP_694545	WXS	Illumina GAIIx	Phase_I	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	1131	+			259						Missense_Mutation	SNP	ENST00000355285.5	37	c.777C>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417609	0.42918	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18502	2.21	4.94	-0.44	0.12261	.	0.087235	0.85682	N	0.000000	T	0.24160	0.0585	L	0.60455	1.87	0.80722	D	1	P	0.50443	0.935	P	0.55391	0.775	T	0.01988	-1.1234	10	0.52906	T	0.07	-31.3258	6.5406	0.22378	0.1227:0.5744:0.0:0.3029	.	259	Q8J025	APCD1_HUMAN	K	259;310	ENSP00000347433:N259K	ENSP00000347433:N259K	N	+	3	2	APCDD1	10475461	0.998000	0.40836	0.984000	0.44739	0.414000	0.31173	0.592000	0.23984	0.011000	0.14865	0.561000	0.74099	AAC		0.577	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		5	134	0	0	0	1	0	5	134					A	10485461	C	A	10485461	3	1	8	1	0	0	0	0	1	0	0	0	765	506	18	4	791	4	APCDD1	18	10485461	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		10485461	67591787	17	227											
HIF3A	64344	broad.mit.edu	37	19	46811989	46811989	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr19:46811989C>T	ENST00000377670.4	+	5	549	c.518C>T	c.(517-519)aCc>aTc	p.T173I	HIF3A_ENST00000244303.6_Missense_Mutation_p.T104I|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.T122I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T171I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T104I|HIF3A_ENST00000339613.2_Missense_Mutation_p.T117I|HIF3A_ENST00000600383.1_Missense_Mutation_p.T104I|HIF3A_ENST00000525854.1_3'UTR	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	173					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGTACACTCACCAGCCGCGGG	0.716																																						uc002peh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(517-519)aCc>aTc		Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.							19	17	18					19																	46811989		2198	4293	6491	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811989C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.518C>T	19.37:g.46811989C>T	ENSP00000366898:p.Thr173Ile		Somatic				HIF3A_uc002pef.2_Missense_Mutation_p.T173I|HIF3A_uc002peg.4_Missense_Mutation_p.T173I|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.T117I|HIF3A_uc002pej.2_Missense_Mutation_p.T104I|HIF3A_uc010xxy.2_Missense_Mutation_p.T104I|HIF3A_uc002pel.3_Missense_Mutation_p.T171I|HIF3A_uc010xxz.2_Missense_Mutation_p.T122I	p.T173I	NM_152795	NP_690008	WXS	Illumina GAIIx	Phase_I	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	4	549	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	173					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.518C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153843	0.78114	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	4.8	3.74	0.42951	.	0.206611	0.24554	N	0.037534	T	0.69305	0.3096	H	0.97158	3.95	0.58432	D	0.999999	D;D;P;D;P;P;D;D	0.69078	0.974;0.981;0.943;0.997;0.954;0.89;0.971;0.969	P;P;P;D;P;P;P;P	0.64042	0.875;0.522;0.629;0.921;0.828;0.745;0.812;0.536	T	0.80027	-0.1554	10	0.87932	D	0	.	13.0918	0.59171	0.0:0.837:0.1629:0.0	.	122;104;171;122;117;173;173;173	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;.;.;.;HIF3A_HUMAN;.;.	I	173;173;173;87;173;104;117;104;117;171;122	ENSP00000366898:T173I;ENSP00000244303:T104I;ENSP00000341877:T117I;ENSP00000300862:T171I;ENSP00000407771:T122I	ENSP00000244302:T173I	T	+	2	0	HIF3A	51503829	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.661000	0.61518	1.134000	0.42165	0.561000	0.74099	ACC		0.716	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			5	5	0	0	0	1	0	5	5					T	46811989	C	T	46811989	3	4	8	1	0	0	0	0	1	0	0	0	7105	507	18	2	560	2	HIF3A	19	46811989	Missense_Mutation	SNP	C	TCGA-BJ-A0ZC-01A-12D-A13W-08		46811989	12316994	18	228											
ZHX3	23051	broad.mit.edu	37	20	39831621	39831621	+	Silent	SNP	T	T	G			TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chr20:39831621T>G	ENST00000309060.3	-	4	2351	c.1936A>C	c.(1936-1938)Aga>Cga	p.R646R	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.R646R|ZHX3_ENST00000559234.1_Silent_p.R646R|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.R646R|ZHX3_ENST00000432768.2_Silent_p.R646R|ZHX3_ENST00000544979.2_Silent_p.R646R			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	646					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)				GTTTCACTTCTCAGGCGGTCC	0.493																																						uc002xjr.1																			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.(1936-1938)Aga>Cga		Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.							134	145	141					20																	39831621		2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:39831621T>G	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1936A>C	20.37:g.39831621T>G			Somatic				ZHX3_uc002xjs.1_Silent_p.R646R|ZHX3_uc002xjt.1_Silent_p.R646R|ZHX3_uc002xju.1_Silent_p.R646R|ZHX3_uc002xjv.1_Silent_p.R646R|ZHX3_uc002xjw.1_Silent_p.R646R|ZHX3_uc010ggg.1_Silent_p.R646R	p.R646R	NM_015035	NP_055850	WXS	Illumina GAIIx	Phase_I	Q9H4I2	ZHX3_HUMAN			3	2399	-		Myeloproliferative disorder(115;0.00425)	646					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.1936A>C	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	T	6.226	0.409839	0.11812	.	.	ENSG00000174306	ENST00000421422	.	.	.	6.06	2.31	0.28768	.	.	.	.	.	T	0.67059	0.2853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64183	-0.6467	4	.	.	.	-22.8556	13.4542	0.61189	0.0:0.0:0.3719:0.6281	.	.	.	.	A	354	.	.	E	-	2	0	ZHX3	39265035	0.994000	0.37717	0.999000	0.59377	0.994000	0.84299	0.918000	0.28678	0.493000	0.27837	0.528000	0.53228	GAG		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		6	254	0	0	0	1	0	6	254					G	39831621	T	G	39831621	2	3	8	1	0	0	0	0	0	0	0	1	17674	1559	54	5		5	ZHX3	20	39831621	Silent	SNP	T	TCGA-BJ-A0ZC-01A-12D-A13W-08		39831621	23193899	19	229											
DMD	1756	broad.mit.edu	37	X	31854884	31854884	+	Missense_Mutation	SNP	G	G	A	rs185706283		TCGA-BJ-A0ZC-01A-12D-A13W-08	TCGA-BJ-A0ZC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae01da3a-78ad-4405-a24a-bcd786b4846b	bbb6db00-380f-4352-b719-235d668bdd23	g.chrX:31854884G>A	ENST00000357033.4	-	49	7357	c.7151C>T	c.(7150-7152)tCt>tTt	p.S2384F	DMD_ENST00000378677.2_Missense_Mutation_p.S2380F|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2384					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCTTTAGACAAAATCTC	0.408																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7150-7152)tCt>tTt		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							214	178	190					X																	31854884		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31854884G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7151C>T	X.37:g.31854884G>A	ENSP00000354923:p.Ser2384Phe		Somatic				DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.S1040F|DMD_uc004dcx.2_Missense_Mutation_p.S1043F|DMD_uc004dcz.2_Missense_Mutation_p.S2261F|DMD_uc004dcy.1_Missense_Mutation_p.S2380F|DMD_uc004ddb.1_Missense_Mutation_p.S2376F|DMD_uc004ddd.1_5'UTR	p.S2384F	NM_004006	NP_004001	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			48	7395	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2384					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7151C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197687	0.58126	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.36520	1.25;1.25;1.25	5.63	5.63	0.86233	.	0.000000	0.34777	U	0.003682	T	0.50599	0.1625	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.995;0.995;0.976;0.976	D;D;D;P;P	0.80764	0.994;0.986;0.986;0.549;0.447	T	0.51545	-0.8692	10	0.62326	D	0.03	.	16.847	0.85983	0.0:0.0:1.0:0.0	.	2376;2384;2380;1043;1040	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	F	2376;1043;1040;80;2380;2384;2384;2261	ENSP00000350765:S80F;ENSP00000367948:S2380F;ENSP00000354923:S2384F	ENSP00000354923:S2384F	S	-	2	0	DMD	31764805	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.780000	0.75063	2.355000	0.79922	0.415000	0.27848	TCT		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	98	0	0	0	1	0	5	98					A	31854884	G	A	31854884	3	1	8	1	0	0	0	0	1	0	0	0	4580	942	33	2	4178	2	DMD	23	31854884	Missense_Mutation	SNP	G	TCGA-BJ-A0ZC-01A-12D-A13W-08		31854884	123415676	20	230											
SCN9A	6335	broad.mit.edu	37	2	167055182	167055182	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:167055182C>G	ENST00000409435.1	-	26	5966	c.5967G>C	c.(5965-5967)taG>taC	p.*1989Y	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Nonstop_Mutation_p.*1990Y|SCN9A_ENST00000409672.1_Nonstop_Mutation_p.*1978Y|SCN9A_ENST00000375387.4_Nonstop_Mutation_p.*1990Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	0					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)	AAATGAAGCTCTATTTTTTGC	0.318																																						uc010fpl.3																			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.(5932-5934)taG>taC		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						103	93	97					2																	167055182		1858	4096	5954	SO:0001578	stop_lost	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055182C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5967G>C	2.37:g.167055182C>G			Somatic				BC051759_uc002udp.3_Intron	p.*1978Y	NM_002977	NP_002968	WXS	Illumina GAIIx	Phase_I	Q15858	SCN9A_HUMAN			26	6275	-			0					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonstop_Mutation	SNP	ENST00000409435.1	37	c.5934G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.269100	0.40095	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.86	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3472	0.04274	0.2234:0.4215:0.0:0.3551	.	.	.	.	Y	1978;1990;1990;1989	.	.	X	-	3	2	SCN9A	166763428	0.000000	0.05858	0.979000	0.43373	0.354000	0.29330	-0.570000	0.05895	1.420000	0.47138	0.591000	0.81541	TAG		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		11	17	0	0	0	1	0	11	17					G	167055182	C	G	167055182	4	3	9	1	0	0	0	0	0	0	0	0	13925	924	32	4	3	4	SCN9A	2	167055182	Nonstop_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		167055182	76144191	1	231											
COL3A1	1281	broad.mit.edu	37	2	189853339	189853339	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:189853339C>A	ENST00000304636.3	+	7	776	c.606C>A	c.(604-606)ccC>ccA	p.P202P	COL3A1_ENST00000317840.5_Silent_p.P202P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	202	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACCAAGGACCCCCTGGTGAAC	0.328																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(604-606)ccC>ccA		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						34	39	37					2																	189853339		2201	4296	6497	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189853339C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.606C>A	2.37:g.189853339C>A			Somatic					p.P202P	NM_000090	NP_000081	WXS	Illumina GAIIx	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		6	723	+			202			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.606C>A	CCDS2297.1																																																																																				0.328	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		3	84	0	0	0	1	0	3	84					A	189853339	C	A	189853339	2	1	9	1	0	0	0	0	0	0	0	1	3688	610	22	4		4	COL3A1	2	189853339	Silent	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	22798157	189853339	53346034	2	232											
MITF	4286	broad.mit.edu	37	3	69987187	69987187	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:69987187A>G	ENST00000448226.2	+	3	696	c.569A>G	c.(568-570)aAc>aGc	p.N190S	MITF_ENST00000314557.6_Missense_Mutation_p.N83S|MITF_ENST00000394355.2_Missense_Mutation_p.N165S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.N83S|MITF_ENST00000352241.4_Missense_Mutation_p.N190S|MITF_ENST00000314589.5_Missense_Mutation_p.N174S|MITF_ENST00000328528.6_Missense_Mutation_p.N189S|MITF_ENST00000472437.1_Missense_Mutation_p.N138S|MITF_ENST00000531774.1_Intron			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	190					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTAACTCCAACTGTGAAAAA	0.488			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)	uc003dnz.3				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"Waardenburg syndrome type 2, Tietz syndrome"	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(568-570)aAc>aGc		Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.							76	66	69					3																	69987187		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding	g.chr3:69987187A>G		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.569A>G	3.37:g.69987187A>G	ENSP00000391803:p.Asn190Ser		Somatic				MITF_uc011bgb.2_Missense_Mutation_p.N138S|MITF_uc003doa.3_Missense_Mutation_p.N189S|MITF_uc003dob.3_Missense_Mutation_p.N174S|MITF_uc021xam.1_Intron|MITF_uc003doe.3_Missense_Mutation_p.N83S|MITF_uc003dof.3_Missense_Mutation_p.N83S|MITF_uc021xal.1_Missense_Mutation_p.N83S	p.N190S	NM_198159	NP_001171896	WXS	Illumina GAIIx	Phase_I	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	2	732	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	190					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.569A>G		.	.	.	.	.	.	.	.	.	.	A	9.900	1.206637	0.22205	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.25085	2.67;2.2;2.46;2.65;1.85;2.64;2.66;2.41;1.82	5.43	4.24	0.50183	.	0.275563	0.45606	D	0.000344	T	0.20170	0.0485	L	0.38531	1.155	0.51767	D	0.999938	B;B;B;B;B;B;B	0.33940	0.047;0.078;0.078;0.194;0.194;0.198;0.433	B;B;B;B;B;B;B	0.34418	0.049;0.106;0.106;0.172;0.172;0.172;0.182	T	0.03103	-1.1072	9	.	.	.	.	11.2501	0.49020	0.7074:0.2926:0.0:0.0	.	138;83;83;165;174;189;190	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	S	190;190;138;189;174;174;165;83;83	ENSP00000295600:N190S;ENSP00000391803:N190S;ENSP00000418845:N138S;ENSP00000327867:N189S;ENSP00000398639:N174S;ENSP00000324443:N174S;ENSP00000377884:N165S;ENSP00000324246:N83S;ENSP00000377880:N83S	.	N	+	2	0	MITF	70069877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.986000	0.70563	0.844000	0.35094	0.533000	0.62120	AAC		0.488	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		41	70	0	0	0	1	0	41	70					G	69987187	A	G	69987187	3	3	9	1	0	0	0	0	1	0	0	0	9596	43	2	3	781	3	MITF	3	69987187	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		69987187	128035243	3	233											
MFAP3L	9848	broad.mit.edu	37	4	170913279	170913279	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr4:170913279G>A	ENST00000361618.3	-	3	787	c.480C>T	c.(478-480)gcC>gcT	p.A160A	MFAP3L_ENST00000393704.3_Silent_p.A57A|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CGATGGTGAAGGCCACCAGGC	0.512																																						uc003isp.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(478-480)gcC>gcT		Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.							142	127	132					4																	170913279		2203	4300	6503	SO:0001819	synonymous_variant	9848					integral to membrane|plasma membrane		g.chr4:170913279G>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.480C>T	4.37:g.170913279G>A			Somatic				MFAP3L_uc003isn.4_Silent_p.A57A|MFAP3L_uc021xuj.1_Silent_p.A57A	p.A160A	NM_021647	NP_001009554	WXS	Illumina GAIIx	Phase_I	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	658	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	160					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	c.480C>T	CCDS34103.1																																																																																				0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		7	159	0	0	0	1	0	7	159					A	170913279	G	A	170913279	2	1	9	1	0	0	0	0	0	0	0	1	9516	987	35	2		2	MFAP3L	4	170913279	Silent	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		170913279	20240997	4	234											
ABCF1	23	broad.mit.edu	37	6	30553911	30553911	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:30553911G>C	ENST00000326195.8	+	18	1826	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	ABCF1_ENST00000376545.3_Splice_Site_p.E534Q|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	572					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCTCTCCAGGAAAAACAAAC	0.552																																						uc003nql.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.e18-1		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.							39	43	42					6																	30553911		2202	4298	6500	SO:0001630	splice_region_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30553911G>C	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1714-1G>C	6.37:g.30553911G>C			Somatic				ABCF1_uc003nqm.3_Splice_Site_p.E534_splice	p.E572_splice	NM_001025091	NP_001020262	WXS	Illumina GAIIx	Phase_I	Q8NE71	ABCF1_HUMAN			18	1809	+			572					A2BF75|O14897|Q69YP6	Splice_Site	SNP	ENST00000326195.8	37	c.1714_splice	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964376	0.53507	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	T;T	0.40225	1.55;1.04	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.82193	2.58	0.80722	D	1	P;P	0.42871	0.792;0.624	P;B	0.46419	0.516;0.3	T	0.51911	-0.8645	9	.	.	.	-12.3944	16.3085	0.82859	0.0:0.0:1.0:0.0	.	534;572	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	Q	572;534	ENSP00000313603:E572Q;ENSP00000365728:E534Q	.	E	+	1	0	ABCF1	30661890	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	7.995000	0.88328	2.385000	0.81259	0.555000	0.69702	GAA		0.552	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		Missense_Mutation	29	40	0	0	0	1	0	29	40					C	30553911	G	C	30553911	5	2	9	1	0	0	0	0	0	0	1	0	65	1188	41	4	1784	4	ABCF1	6	30553911	Splice_Site	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		30553911	140561156	5	235											
HLA-DMA	3108	broad.mit.edu	37	6	32917464	32917464	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:32917464G>A	ENST00000374843.4	-	3	661	c.576C>T	c.(574-576)ttC>ttT	p.F192F	HLA-DMA_ENST00000395305.3_Silent_p.F97F|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395303.3_Silent_p.F158F	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	192	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)			kidney(1)|large_intestine(2)|lung(8)	11						GTTCTGGTGTGAAGTTTAAGT	0.478																																						uc003ocm.2																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(574-576)ttC>ttT		Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.							77	74	75					6																	32917464		1510	2709	4219	SO:0001819	synonymous_variant	3108					MHC class II protein complex|integral to membrane		g.chr6:32917464G>A		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.576C>T	6.37:g.32917464G>A			Somatic				HLA-DMA_uc011dqm.1_3'UTR	p.F192F	NM_006120	NP_006111	WXS	Illumina GAIIx	Phase_I	Q31604	Q31604_HUMAN			2	662	-			192					Q29639|Q29640	Silent	SNP	ENST00000374843.4	37	c.576C>T	CCDS4761.1																																																																																				0.478	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		4	102	0	0	0	1	0	4	102					A	32917464	G	A	32917464	2	1	9	1	0	0	0	0	0	0	0	1	7198	1281	45	2		2	HLA-DMA	6	32917464	Silent	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08	2363553	32917464	138197603	6	236											
GPT	2875	broad.mit.edu	37	8	145731945	145731945	+	Missense_Mutation	SNP	A	A	G	rs200853809		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:145731945A>G	ENST00000528431.1	+	10	1350	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Missense_Mutation_p.N398S			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	398					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CAGGTCTTCAATGAGGCTCCT	0.692													A|||	1	0.000199681	8e-04	0	5008	,	,		12082	0		0	False		,,,				2504	0					uc003zdh.4																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1192-1194)aAt>aGt		Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	A	SER/ASN	0,4290		0,0,2145	17	11	13		1193	2.0	0.1	8		13	1,8419		0,1,4209	no	missense	GPT	NM_005309.2	46	0,1,6354	GG,GA,AA		0.0119,0.0,0.0079	benign	398/497	145731945	1,12709	2145	4210	6355	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145731945A>G		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1193A>G	8.37:g.145731945A>G	ENSP00000433586:p.Asn398Ser		Somatic				MFSD3_uc003zdi.1_5'Flank	p.N398S	NM_005309	NP_005300	WXS	Illumina GAIIx	Phase_I	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		8	1416	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		398					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.1193A>G	CCDS6430.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	11.45	1.643798	0.29246	0.0	1.19E-4	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90444	-2.67;-2.67	4.54	2.02	0.26589	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	M	0.77616	2.38	0.51767	D	0.999937	B	0.09022	0.002	B	0.16289	0.015	T	0.80339	-0.1424	10	0.49607	T	0.09	-6.8781	6.062	0.19842	0.7283:0.1785:0.0932:0.0	.	398	P24298	ALAT1_HUMAN	S	398	ENSP00000433586:N398S;ENSP00000378408:N398S	ENSP00000378408:N398S	N	+	2	0	GPT	145702753	0.584000	0.26766	0.120000	0.21714	0.573000	0.36030	1.417000	0.34770	0.095000	0.17434	-0.411000	0.06167	AAT		0.692	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			5	9	0	0	0	1	0	5	9					G	145731945	A	G	145731945	3	3	9	1	0	0	0	0	1	0	0	0	6737	101	4	3	1227	3	GPT	8	145731945	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		145731945	632077	7	237											
PTGES	9536	broad.mit.edu	37	9	132511009	132511009	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:132511009G>A	ENST00000340607.4	-	2	168	c.134C>T	c.(133-135)gCc>gTc	p.A45V	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	45					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCGGGGTTGGCAAAGGCCTG	0.592																																						uc004byi.3																			0				lung(1)|skin(1)	2						c.(133-135)gCc>gTc		Homo sapiens prostaglandin E synthase (PTGES), mRNA.							49	40	43					9																	132511009		2203	4300	6503	SO:0001583	missense	9536				prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity	g.chr9:132511009G>A	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase 1-like 1", "tumor protein p53 inducible protein 12", "p53-induced gene 12", "microsomal prostaglandin E synthase-1", "glutathione S-transferase 1-like 1", "MGST1-like 1"	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.134C>T	9.37:g.132511009G>A	ENSP00000342385:p.Ala45Val		Somatic				PTGES_uc010myy.3_Non-coding_Transcript	p.A45V	NM_004878	NP_004869	WXS	Illumina GAIIx	Phase_I	O14684	PTGES_HUMAN			1	187	-		Ovarian(14;0.00556)	45					O14900|Q5SZC0	Missense_Mutation	SNP	ENST00000340607.4	37	c.134C>T	CCDS6927.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156301	0.78114	.	.	ENSG00000148344	ENST00000340607	T	0.58652	0.32	6.08	6.08	0.98989	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.050231	0.85682	D	0.000000	T	0.74861	0.3772	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.75004	-0.3470	10	0.87932	D	0	-23.388	19.6516	0.95815	0.0:0.0:1.0:0.0	.	45	O14684	PTGES_HUMAN	V	45	ENSP00000342385:A45V	ENSP00000342385:A45V	A	-	2	0	PTGES	131550830	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.110000	0.94302	2.894000	0.99253	0.655000	0.94253	GCC		0.592	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		3	51	0	0	0	1	0	3	51					A	132511009	G	A	132511009	3	1	9	1	0	0	0	0	1	0	0	0	12746	1203	42	2	332	2	PTGES	9	132511009	Missense_Mutation	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		132511009	8702422	8	238											
ADM	133	broad.mit.edu	37	11	10327267	10327267	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:10327267C>T	ENST00000528655.1	+	1	637	c.20C>T	c.(19-21)gCc>gTc	p.A7V	ADM_ENST00000530439.1_5'UTR|ADM_ENST00000525063.1_Missense_Mutation_p.A7V|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000524948.1_Missense_Mutation_p.A7V|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000528544.1_Missense_Mutation_p.A7V|ADM_ENST00000278175.5_Missense_Mutation_p.A7V|ADM_ENST00000526492.1_Missense_Mutation_p.A7V			P35318	ADML_HUMAN	adrenomedullin	7					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GTTTCCGTCGCCCTGATGTAC	0.642																																						uc001mil.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(19-21)gCc>gTc		Homo sapiens adrenomedullin (ADM), mRNA.							90	83	85					11																	10327267		2201	4294	6495	SO:0001583	missense	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327267C>T	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"Endogenous ligands"	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.20C>T	11.37:g.10327267C>T	ENSP00000436607:p.Ala7Val		Somatic					p.A7V	NM_001124	NP_001115	WXS	Illumina GAIIx	Phase_I	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	1	176	+			7					B2R793|D3DQV3|Q6FGW2	Missense_Mutation	SNP	ENST00000528655.1	37	c.20C>T	CCDS7801.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424423	0.62733	.	.	ENSG00000148926	ENST00000278175;ENST00000524948;ENST00000528655;ENST00000526492;ENST00000525063;ENST00000528544	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	4.84	3.93	0.45458	.	0.524000	0.23261	N	0.050137	T	0.24084	0.0583	L	0.46157	1.445	0.30002	N	0.815911	B	0.25772	0.134	B	0.27262	0.078	T	0.16928	-1.0386	10	0.56958	D	0.05	-11.4712	10.8424	0.46724	0.0:0.9122:0.0:0.0878	.	7	P35318	ADML_HUMAN	V	7	ENSP00000278175:A7V;ENSP00000433062:A7V;ENSP00000436607:A7V;ENSP00000434354:A7V;ENSP00000435124:A7V;ENSP00000434749:A7V	ENSP00000278175:A7V	A	+	2	0	ADM	10283843	1.000000	0.71417	0.972000	0.41901	0.900000	0.52787	2.684000	0.46951	1.262000	0.44165	0.561000	0.74099	GCC		0.642	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1	NM_001124		43	56	0	0	0	1	0	43	56					T	10327267	C	T	10327267	3	4	9	1	0	0	0	0	1	0	0	0	321	739	26	2	22	2	ADM	11	10327267	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		10327267	124679249	9	239											
MEN1	4221	broad.mit.edu	37	11	64575515	64575515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:64575515delG	ENST00000337652.1	-	3	1020	c.517delC	c.(517-519)ctgfs	p.L173fs	MEN1_ENST00000394376.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000394374.2_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.L168fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.L168fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.L168fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.L168fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	173			L -> P (in MEN1). {ECO:0000269|PubMed:9820618}.|Missing (in MEN1). {ECO:0000269|PubMed:9747036}.		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)	p.A167fs*10(1)		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						CGGAGACCCAGGGCCTGGCAG	0.602			"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)	uc001obj.3			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		1	Deletion - Frameshift(1)	p.D172V(1)|p.A167fs*10(1)	parathyroid(1)	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						c.(517-519)ctgfs		Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.							41	41	41					11																	64575515		2201	4297	6498	SO:0001589	frameshift_variant	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|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 UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	g.chr11:64575515delG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.517delC	11.37:g.64575515delG	ENSP00000337088:p.Leu173fs		Somatic				MEN1_uc001obk.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obl.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obm.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obn.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obo.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obq.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obr.3_Frame_Shift_Del_p.L173fs	p.L173fs	NM_130800	NP_570716	WXS	Illumina GAIIx	Phase_I	O00255	MEN1_HUMAN			2	590	-			173		L -> P (in MEN1).|Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	c.517delC	CCDS8083.1																																																																																				0.602	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			21	41						21	41	---	---	---	---	-	64575515	G	-	64575515	7	5	9	1	0	1	0	1	0	0	0	0	9472	991	35	0	1362	0	MEN1	11	64575515	Frame_Shift_Del	DEL	G	TCGA-BJ-A0ZE-01A-11D-A10S-08	54248248	64575515	70431001	10	240											
ANKRD42	338699	broad.mit.edu	37	11	82959006	82959006	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:82959006C>T	ENST00000393392.2	+	10	1295	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	ANKRD42_ENST00000533342.1_Silent_p.G448G|ANKRD42_ENST00000260047.6_Silent_p.G447G|ANKRD42_ENST00000531895.1_Silent_p.G448G|ANKRD42_ENST00000528190.1_3'UTR	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	378					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTGCAGGGCCAGCTGGAGT	0.343																																						uc001ozz.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(1132-1134)gCc>gTc		Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.							81	82	82					11																	82959006		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82959006C>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.1133C>T	11.37:g.82959006C>T	ENSP00000377051:p.Ala378Val		Somatic				ANKRD42_uc010rsv.1_Silent_p.G448G|ANKRD42_uc001paa.3_Silent_p.G448G|ANKRD42_uc001pab.1_Silent_p.G447G	p.A378V	NM_182603	NP_872409	WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			9	1555	+			378					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.1133C>T	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419860	0.42918	.	.	ENSG00000137494	ENST00000393392	T	0.67345	-0.26	5.46	1.35	0.21983	.	4.375660	0.00166	N	0.000014	T	0.46833	0.1413	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23013	-1.0200	9	.	.	.	-0.0387	7.4647	0.27314	0.0:0.614:0.2357:0.1503	.	378	Q8N9B4	ANR42_HUMAN	V	378	ENSP00000377051:A378V	.	A	+	2	0	ANKRD42	82636654	0.792000	0.28813	0.270000	0.24601	0.955000	0.61496	1.232000	0.32636	0.056000	0.16144	0.561000	0.74099	GCC		0.343	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		3	38	0	0	0	1	0	3	38					T	82959006	C	T	82959006	3	4	9	1	0	0	0	0	1	0	0	0	670	739	26	2	1171	2	ANKRD42	11	82959006	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	18383491	82959006	52047510	11	241											
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	141	Substitution - Missense(141)	p.Q61H(208)|p.Q61L(144)|p.Q61R(112)|p.Q61K(32)|p.Q61P(24)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)cAa>cGa		Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.							109	97	101					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380276T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>G	12.37:g.25380276T>C	ENSP00000256078:p.Gln61Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_uc001rgq.1_Missense_Mutation_p.Q61R	p.Q61R	NM_033360	NP_203524	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	363	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.182A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		34	76	0	0	0	1	0	34	76					C	25380276	T	C	25380276	3	2	9	1	0	0	0	0	1	0	0	0	8438	1812	63	3	520	3	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-BJ-A0ZE-01A-11D-A10S-08		25380276	108471619	12	242											
SPATS2	65244	broad.mit.edu	37	12	49890689	49890689	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:49890689A>G	ENST00000553127.1	+	9	1113	c.600A>G	c.(598-600)caA>caG	p.Q200Q	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Silent_p.Q200Q|SPATS2_ENST00000321898.6_Silent_p.Q200Q			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	200						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACAATTCTCAACAACCCAGGA	0.438																																						uc001rud.2																			0		p.Q200*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(598-600)caA>caG		Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.							130	120	124					12																	49890689		2203	4300	6503	SO:0001819	synonymous_variant	65244					cytoplasm		g.chr12:49890689A>G	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.600A>G	12.37:g.49890689A>G			Somatic				SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Silent_p.Q200Q|SPATS2_uc001ruf.2_Silent_p.Q200Q	p.Q200Q	NM_023071	NP_075559	WXS	Illumina GAIIx	Phase_I	Q86XZ4	SPAS2_HUMAN			7	1589	+			200					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	c.600A>G	CCDS31794.1																																																																																				0.438	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		69	94	0	0	0	1	0	69	94					G	49890689	A	G	49890689	2	3	9	1	0	0	0	0	0	0	0	1	15018	40	2	3		3	SPATS2	12	49890689	Silent	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08	24510413	49890689	83961206	13	243											
ATP2A2	488	broad.mit.edu	37	12	110771021	110771021	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:110771021A>G	ENST00000539276.2	+	10	1329	c.1220A>G	c.(1219-1221)tAt>tGt	p.Y407C	ATP2A2_ENST00000395494.2_Missense_Mutation_p.Y380C|ATP2A2_ENST00000308664.6_Missense_Mutation_p.Y407C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	407					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGTCACCAGTATGATGGTCTG	0.423																																						uc001tqk.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38	GRCh37	CD991621	ATP2A2	D		c.(1219-1221)tAt>tGt		Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.							241	222	228					12																	110771021		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding	g.chr12:110771021A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1220A>G	12.37:g.110771021A>G	ENSP00000440045:p.Tyr407Cys		Somatic				ATP2A2_uc001tql.4_Missense_Mutation_p.Y407C|ATP2A2_uc021rdt.1_Missense_Mutation_p.Y255C	p.Y407C	NM_170665	NP_733765	WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			9	1783	+			407					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1220A>G	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057843	0.76074	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.82803	-1.65;-1.65;-1.65	5.98	5.98	0.97165	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	0.394769	0.31450	N	0.007631	D	0.87577	0.6212	M	0.66506	2.035	0.53005	D	0.999963	D;D;D	0.56521	0.97;0.97;0.976	P;P;P	0.54856	0.649;0.649;0.762	D	0.87013	0.2124	10	0.40728	T	0.16	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	380;407;407	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	C	407;380;407	ENSP00000311186:Y407C;ENSP00000378872:Y380C;ENSP00000440045:Y407C	ENSP00000311186:Y407C	Y	+	2	0	ATP2A2	109255404	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	6.164000	0.71885	2.289000	0.77006	0.482000	0.46254	TAT		0.423	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		81	126	0	0	0	1	0	81	126					G	110771021	A	G	110771021	3	3	9	1	0	0	0	0	1	0	0	0	1137	449	16	3	1258	3	ATP2A2	12	110771021	Missense_Mutation	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08	60880332	110771021	23080874	14	244											
RPUSD1	113000	broad.mit.edu	37	16	837367	837367	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:837367G>A	ENST00000561734.1	-	2	536	c.293C>T	c.(292-294)gCt>gTt	p.A98V	CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000565809.1_Missense_Mutation_p.A98V|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.A98V|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	98					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCAGGTAAGCCTTGGTCAC	0.657																																						uc002cka.3																			0				endometrium(3)|lung(2)|skin(2)	7						c.(292-294)gCt>gTt		Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.							25	22	23					16																	837367		2175	4286	6461	SO:0001583	missense	113000				pseudouridine synthesis		RNA binding|pseudouridine synthase activity	g.chr16:837367G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.293C>T	16.37:g.837367G>A	ENSP00000455026:p.Ala98Val		Somatic				RPUSD1_uc002ckb.3_Missense_Mutation_p.A98V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	p.A98V	NM_058192	NP_478072	WXS	Illumina GAIIx	Phase_I	Q9UJJ7	RUSD1_HUMAN			1	527	-		Hepatocellular(780;0.00335)	98					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.293C>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086312	0.36855	.	.	ENSG00000007376	ENST00000007264	T	0.13420	2.59	4.38	3.43	0.39272	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.053327	0.85682	N	0.000000	T	0.10121	0.0248	N	0.13098	0.295	0.80722	D	1	P	0.45986	0.87	P	0.45753	0.492	T	0.22452	-1.0216	10	0.32370	T	0.25	-10.0552	11.006	0.47635	0.0927:0.0:0.9073:0.0	.	98	Q9UJJ7	RUSD1_HUMAN	V	98	ENSP00000007264:A98V	ENSP00000007264:A98V	A	-	2	0	RPUSD1	777368	1.000000	0.71417	0.964000	0.40570	0.910000	0.53928	6.426000	0.73374	1.073000	0.40885	0.542000	0.68232	GCT		0.657	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		8	14	0	0	0	1	0	8	14					A	837367	G	A	837367	3	1	9	1	0	0	0	0	1	0	0	0	13666	971	34	2	661	2	RPUSD1	16	837367	Missense_Mutation	SNP	G	TCGA-BJ-A0ZE-01A-11D-A10S-08		837367	89517386	15	245											
KIAA0895L	653319	broad.mit.edu	37	16	67213988	67213988	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:67213988C>T	ENST00000290881.7	-	3	1452	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.V176M|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V176M			Q68EN5	K895L_HUMAN	KIAA0895-like	176								p.V176L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTTTCCAGCACAGCCGTGGGC	0.582																																						uc002ert.3																			1	Substitution - Missense(1)	p.V176L(2)	endometrium(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(526-528)Gtg>Atg		Homo sapiens KIAA0895-like (KIAA0895L), mRNA.							97	102	100					16																	67213988		2011	4176	6187	SO:0001583	missense	653319							g.chr16:67213988C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.526G>A	16.37:g.67213988C>T	ENSP00000290881:p.Val176Met		Somatic				KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Missense_Mutation_p.V176M|EXOC3L1_uc002erv.1_Non-coding_Transcript	p.V176M	NM_001040715	NP_001035805	WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			1	1361	-			176					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.526G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628718	0.87560	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.92	4.92	0.64577	.	0.120392	0.56097	D	0.000038	T	0.75547	0.3864	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.72338	0.977;0.812	T	0.74847	-0.3525	9	0.41790	T	0.15	-25.3349	15.6593	0.77169	0.0:1.0:0.0:0.0	.	176;176	Q68EN5-2;Q68EN5	.;K895L_HUMAN	M	176	.	ENSP00000290881:V176M	V	-	1	0	KIAA0895L	65771489	1.000000	0.71417	0.971000	0.41717	0.892000	0.51952	6.957000	0.76019	2.544000	0.85801	0.555000	0.69702	GTG		0.582	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		36	88	0	0	0	1	0	36	88					T	67213988	C	T	67213988	3	4	9	1	0	0	0	0	1	0	0	0	8198	478	17	2	913	2	KIAA0895L	16	67213988	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08	66376621	67213988	23140765	16	246											
APOBEC3G	60489	broad.mit.edu	37	22	39475061	39475061	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr22:39475061C>A	ENST00000407997.3	+	2	499	c.142C>A	c.(142-144)Cct>Act	p.P48T	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.P48T|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	48	Essential for cytoplasmic localization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTCAAGGCCCCCTTTGGACGC	0.507																																						uc021wpr.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(142-144)Cct>Act		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.							73	65	68					22																	39475061		2203	4300	6503	SO:0001583	missense	200316				DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding	g.chr22:39475061C>A	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.142C>A	22.37:g.39475061C>A	ENSP00000385057:p.Pro48Thr		Somatic				APOBEC3F_uc003awx.3_Missense_Mutation_p.P48T|APOBEC3F_uc003awy.3_5'Flank	p.P48T	NM_021822	NP_068594	WXS	Illumina GAIIx	Phase_I	Q9HC16	ABC3G_HUMAN			1	435	+	Melanoma(58;0.04)		48					B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.142C>A	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	0.507	-0.868181	0.02590	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.62941	-0.01;-0.01	1.54	-3.08	0.05347	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.39091	0.1065	N	0.17800	0.525	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.20638	-1.0269	9	0.18710	T	0.47	.	6.5472	0.22412	0.0:0.3312:0.0:0.6688	.	48	Q9HC16	ABC3G_HUMAN	T	48	ENSP00000413376:P48T;ENSP00000385057:P48T	ENSP00000385057:P48T	P	+	1	0	APOBEC3G	37805007	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.329000	0.07935	-1.166000	0.02783	-0.291000	0.09656	CCT		0.507	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		3	51	0	0	0	1	0	3	51					A	39475061	C	A	39475061	3	1	9	1	0	0	0	0	1	0	0	0	794	623	22	4	148	4	APOBEC3G	22	39475061	Missense_Mutation	SNP	C	TCGA-BJ-A0ZE-01A-11D-A10S-08		39475061	11829505	17	247											
ABCB7	22	broad.mit.edu	37	X	74332769	74332769	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chrX:74332769A>G	ENST00000373394.3	-	3	292	c.285T>C	c.(283-285)tgT>tgC	p.C95C	ABCB7_ENST00000339447.4_Silent_p.C95C|ABCB7_ENST00000253577.3_Silent_p.C96C			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	95					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GACCATGCCAACATGTCCTCT	0.438																																						uc004ebz.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(286-288)tgT>tgC		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.							206	157	173					X																	74332769		2203	4300	6503	SO:0001819	synonymous_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74332769A>G	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.285T>C	X.37:g.74332769A>G			Somatic				ABCB7_uc010nlt.3_Silent_p.C95C|ABCB7_uc004eca.3_Silent_p.C95C|ABCB7_uc011mqn.2_Silent_p.C69C|ABCB7_uc010nls.3_Silent_p.C96C	p.C96C	NM_004299	NP_004290	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			2	313	-			95					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37	c.288T>C																																																																																					0.438	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		9	244	0	0	0	1	0	9	244					G	74332769	A	G	74332769	2	3	9	1	0	0	0	0	0	0	0	1	46	41	2	3		3	ABCB7	23	74332769	Silent	SNP	A	TCGA-BJ-A0ZE-01A-11D-A10S-08		74332769	80937791	18	248											
GOLGA4	2803	broad.mit.edu	37	3	37368937	37368937	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:37368937C>A	ENST00000361924.2	+	14	5934	c.5560C>A	c.(5560-5562)Caa>Aaa	p.Q1854K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1876K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1854	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						GATTTTGGAGCAAAAGATAAA	0.373																																						uc003cgw.3																			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.(5626-5628)Caa>Aaa		Homo sapiens golgin A4 (GOLGA4), transcript variant 1, mRNA.							55	57	56					3																	37368937		2203	4297	6500	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368937C>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5560C>A	3.37:g.37368937C>A	ENSP00000354486:p.Gln1854Lys		Somatic				GOLGA4_uc010hgr.2_Missense_Mutation_p.Q1415K|GOLGA4_uc003cgv.3_Missense_Mutation_p.Q1854K|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.Q1735K	p.Q1876K	NM_001172713	NP_001166184	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			14	5986	+			1854			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5626C>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695564	0.48202	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23950	1.88;1.88;1.88	4.71	3.8	0.43715	.	0.269278	0.19838	N	0.104906	T	0.26011	0.0634	M	0.67953	2.075	0.33420	D	0.579738	B;B;B;P	0.35612	0.4;0.4;0.4;0.512	B;B;B;B	0.36464	0.225;0.225;0.225;0.15	T	0.27606	-1.0069	10	0.21014	T	0.42	.	9.9831	0.41826	0.155:0.6954:0.1496:0.0	.	1854;1854;1876;1854	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1854;1876;1725	ENSP00000354486:Q1854K;ENSP00000349305:Q1876K;ENSP00000405842:Q1725K	ENSP00000349305:Q1876K	Q	+	1	0	GOLGA4	37343941	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.994000	0.40757	2.168000	0.68352	0.549000	0.68633	CAA		0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		4	98	0	0	0	1	0	4	98					A	37368937	C	A	37368937	3	1	10	1	0	0	0	0	1	0	0	0	6555	711	25	4	5684	4	GOLGA4	3	37368937	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		37368937	160653493	1	249											
TTC14	151613	broad.mit.edu	37	3	180324339	180324339	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr3:180324339C>G	ENST00000296015.4	+	9	1252	c.1120C>G	c.(1120-1122)Cac>Gac	p.H374D	TTC14_ENST00000382584.4_Missense_Mutation_p.H374D|TTC14_ENST00000412756.2_Missense_Mutation_p.H374D	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	374							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGTCCAACTCACAGAAATGC	0.383																																						uc003fkk.3																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1120-1122)Cac>Gac		Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.							119	127	124					3																	180324339		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324339C>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1120C>G	3.37:g.180324339C>G	ENSP00000296015:p.His374Asp		Somatic				TTC14_uc003fkl.3_Missense_Mutation_p.H374D|TTC14_uc003fkm.2_Missense_Mutation_p.H374D	p.H374D	NM_133462	NP_597719	WXS	Illumina GAIIx	Phase_I	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1252	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		374					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1120C>G	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859364	0.91433	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.72942	-0.7;-0.7;-0.7	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85927	0.5811	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;P	0.91635	0.999;0.999;0.82	D	0.85721	0.1325	10	0.56958	D	0.05	-9.1635	20.3465	0.98790	0.0:1.0:0.0:0.0	.	374;374;374	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	D	374	ENSP00000296015:H374D;ENSP00000413743:H374D;ENSP00000372027:H374D	ENSP00000296015:H374D	H	+	1	0	TTC14	181807033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.798000	0.96311	0.655000	0.94253	CAC		0.383	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		4	196	0	0	0	1	0	4	196					G	180324339	C	G	180324339	3	3	10	1	0	0	0	0	1	0	0	0	16678	826	29	4	1154	4	TTC14	3	180324339	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	142955402	180324339	17698091	2	250											
CPE	1363	broad.mit.edu	37	4	166403472	166403472	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr4:166403472G>A	ENST00000402744.4	+	4	1031	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	251					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCATGGAGGAGACCTTGTGGC	0.403																																						uc003irg.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(751-753)Gac>Aac		Homo sapiens carboxypeptidase E (CPE), mRNA.	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						174	155	161					4																	166403472		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166403472G>A	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.751G>A	4.37:g.166403472G>A	ENSP00000386104:p.Asp251Asn		Somatic					p.D251N	NM_001873	NP_001864	WXS	Illumina GAIIx	Phase_I	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	3	1028	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	251					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.751G>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796907	0.70567	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40664	-0.9551	10	0.72032	D	0.01	-11.06	19.2265	0.93820	0.0:0.0:1.0:0.0	.	251	P16870	CBPE_HUMAN	N	139;251;215;139;139	ENSP00000424830:D139N;ENSP00000386104:D251N;ENSP00000416601:D139N;ENSP00000423699:D139N	ENSP00000261510:D215N	D	+	1	0	CPE	166622922	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	7.574000	0.82434	2.531000	0.85337	0.650000	0.86243	GAC		0.403	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		4	151	0	0	0	1	0	4	151					A	166403472	G	A	166403472	3	1	10	1	0	0	0	0	1	0	0	0	3799	942	33	2	765	2	CPE	4	166403472	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		166403472	24750804	3	251											
MICAL1	64780	broad.mit.edu	37	6	109769507	109769507	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr6:109769507A>G	ENST00000358807.3	-	13	2065	c.1754T>C	c.(1753-1755)gTg>gCg	p.V585A	MICAL1_ENST00000368952.4_Missense_Mutation_p.V604A|MICAL1_ENST00000358577.3_Missense_Mutation_p.V499A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	585	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGCAGACACCACCGGTGTGAT	0.607																																						uc011eaq.2																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1810-1812)gTg>gCg		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.							173	161	165					6																	109769507		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109769507A>G	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1754T>C	6.37:g.109769507A>G	ENSP00000351664:p.Val585Ala		Somatic				MICAL1_uc003ptj.3_Missense_Mutation_p.V585A|MICAL1_uc003ptk.3_Missense_Mutation_p.V585A|MICAL1_uc010kdr.3_Missense_Mutation_p.V499A	p.V604A	NM_022765	NP_073602	WXS	Illumina GAIIx	Phase_I	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	12	2102	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	585			CH.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1811T>C	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724524	0.68959	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	D;D;D	0.95482	-3.72;-3.72;-3.72	5.38	5.38	0.77491	Calponin homology domain (5);	0.148043	0.45361	D	0.000380	D	0.95778	0.8626	M	0.75085	2.285	0.38677	D	0.952446	B;B;B	0.28291	0.172;0.172;0.206	P;B;P	0.46940	0.45;0.397;0.532	D	0.96032	0.9017	10	0.66056	D	0.02	.	13.3412	0.60545	1.0:0.0:0.0:0.0	.	604;499;585	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	A	585;604;499;109	ENSP00000351664:V585A;ENSP00000357948:V604A;ENSP00000351385:V499A	ENSP00000351385:V499A	V	-	2	0	MICAL1	109876200	0.994000	0.37717	0.329000	0.25429	0.850000	0.48378	6.901000	0.75693	2.044000	0.60594	0.459000	0.35465	GTG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		7	392	0	0	0	1	0	7	392					G	109769507	A	G	109769507	3	3	10	1	0	0	0	0	1	0	0	0	9569	159	6	3	1501	3	MICAL1	6	109769507	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		109769507	61345560	4	252											
GNGT1	2792	broad.mit.edu	37	7	93540201	93540201	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr7:93540201G>C	ENST00000248572.5	+	3	344	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Missense_Mutation_p.E66Q	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	66					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TCCCTTCAAGGAGCTCAAAGG	0.348																																						uc003unc.1																			0		p.K65K(1)|p.E66D(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6						c.(196-198)Gag>Cag		Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 (GNGT1), mRNA.							61	59	60					7																	93540201		2203	4300	6503	SO:0001583	missense	2792				G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr7:93540201G>C		CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.196G>C	7.37:g.93540201G>C	ENSP00000248572:p.Glu66Gln		Somatic				GNGT1_uc003umx.1_Non-coding_Transcript	p.E66Q	NM_021955	NP_068774	WXS	Illumina GAIIx	Phase_I	P63211	GBG1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	344	+	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		66					A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	ENST00000248572.5	37	c.196G>C	CCDS5633.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082844	0.94050	.	.	ENSG00000127928	ENST00000248572;ENST00000429473	T;T	0.35789	1.29;1.29	5.75	5.75	0.90469	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64956	-0.6285	9	0.66056	D	0.02	-33.4741	19.0975	0.93258	0.0:0.0:1.0:0.0	.	66	P63211	GBG1_HUMAN	Q	66	ENSP00000248572:E66Q;ENSP00000388777:E66Q	ENSP00000248572:E66Q	E	+	1	0	GNGT1	93378137	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.582000	0.90791	2.885000	0.99019	0.655000	0.94253	GAG		0.348	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254718.2	NM_021955		5	84	0	0	0	1	0	5	84					C	93540201	G	C	93540201	3	2	10	1	0	0	0	0	1	0	0	0	6533	1175	41	4	202	4	GNGT1	7	93540201	Missense_Mutation	SNP	G	TCGA-BJ-A0ZG-01A-11D-A10S-08		93540201	65598462	5	253											
PPP1R3B	79660	broad.mit.edu	37	8	8998408	8998408	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr8:8998408A>T	ENST00000310455.3	-	2	904	c.754T>A	c.(754-756)Ttg>Atg	p.L252M	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.L252M|RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	252					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)		GATATTCCCAAATCCGGTCCA	0.498																																						uc003wsn.4																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(754-756)Ttg>Atg		Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.							160	157	158					8																	8998408		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998408A>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.754T>A	8.37:g.8998408A>T	ENSP00000308318:p.Leu252Met		Somatic				PPP1R3B_uc003wso.4_Missense_Mutation_p.L252M|PPP1R3B_uc022arp.1_Missense_Mutation_p.L252M	p.L252M	NM_024607	NP_078883	WXS	Illumina GAIIx	Phase_I	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	1	919	-			252					B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.754T>A	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303228	0.23736	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.46451	0.87;0.87	5.93	2.03	0.26663	.	1.025670	0.07688	N	0.938312	T	0.28995	0.0720	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20538	-1.0272	10	0.30854	T	0.27	-7.3538	5.6581	0.17654	0.706:0.143:0.151:0.0	.	252	Q86XI6	PPR3B_HUMAN	M	252	ENSP00000308318:L252M;ENSP00000428642:L252M	ENSP00000308318:L252M	L	-	1	2	PPP1R3B	9035818	0.790000	0.28787	0.249000	0.24280	0.866000	0.49608	1.598000	0.36740	1.072000	0.40860	0.459000	0.35465	TTG		0.498	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		14	90	0	0	0	1	0	14	90					T	8998408	A	T	8998408	3	4	10	1	0	0	0	0	1	0	0	0	12372	11	1	5	107	5	PPP1R3B	8	8998408	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		8998408	137365614	6	254											
SMUG1	23583	broad.mit.edu	37	12	54576295	54576295	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:54576295T>A	ENST00000508394.2	-	3	460	c.398A>T	c.(397-399)cAg>cTg	p.Q133L	SMUG1_ENST00000506595.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000514196.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000243112.5_Missense_Mutation_p.Q133L|SMUG1_ENST00000513838.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000337581.3_Missense_Mutation_p.Q133L|SMUG1_ENST00000514685.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000401977.2_Missense_Mutation_p.Q133L|SMUG1_ENST00000505128.1_3'UTR	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	133				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						CACTTCTGACTGTGGGCACTC	0.562								Base excision repair (BER), DNA glycosylases																														uc001sfg.2																			0				kidney(1)|large_intestine(4)|lung(1)	6						c.(397-399)cAg>cTg	Base excision repair (BER), DNA glycosylases	Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 2, mRNA.							90	90	90					12																	54576295		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576295T>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.398A>T	12.37:g.54576295T>A	ENSP00000424191:p.Gln133Leu		Somatic				SMUG1_uc001sfa.1_5'Flank|SMUG1_uc009znf.2_Missense_Mutation_p.Q133L|SMUG1_uc001sff.2_Missense_Mutation_p.Q133L|SMUG1_uc001sfc.4_Missense_Mutation_p.Q133L|SMUG1_uc001sfb.4_Missense_Mutation_p.Q133L|SMUG1_uc001sfd.4_Missense_Mutation_p.Q133L|SMUG1_uc021qyn.1_Missense_Mutation_p.Q133L|SMUG1_uc001sfe.2_3'UTR	p.Q133L	NM_001243787	NP_001230716	WXS	Illumina GAIIx	Phase_I	Q53HV7	SMUG1_HUMAN			3	545	-			133	Missing (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.398A>T	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085929	0.55861	.	.	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.86	4.86	0.63082	Uracil-DNA glycosylase-like (3);	0.376195	0.30840	N	0.008765	T	0.44705	0.1306	L	0.60455	1.87	0.80722	D	1	P;P	0.48016	0.904;0.895	P;B	0.44422	0.449;0.335	T	0.50575	-0.8812	10	0.66056	D	0.02	.	13.7757	0.63053	0.0:0.0:0.0:1.0	.	133;133	Q53HV7;Q53HV7-2	SMUG1_HUMAN;.	L	133	ENSP00000421206:Q133L;ENSP00000421139:Q133L;ENSP00000338606:Q133L;ENSP00000424191:Q133L;ENSP00000423629:Q133L;ENSP00000243112:Q133L;ENSP00000384828:Q133L;ENSP00000425974:Q133L;ENSP00000423083:Q133L	ENSP00000243112:Q133L	Q	-	2	0	SMUG1	52862562	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.387000	0.52501	1.957000	0.56846	0.460000	0.39030	CAG		0.562	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		20	313	0	0	0	1	0	20	313					A	54576295	T	A	54576295	3	1	10	1	0	0	0	0	1	0	0	0	14818	1580	55	5	418	5	SMUG1	12	54576295	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		54576295	79275600	7	255											
ANO4	121601	broad.mit.edu	37	12	101520843	101520843	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr12:101520843C>T	ENST00000392977.3	+	27	3073	c.2863C>T	c.(2863-2865)Ccg>Tcg	p.P955S	ANO4_ENST00000550015.1_Missense_Mutation_p.P475S|ANO4_ENST00000299222.9_Missense_Mutation_p.P475S|ANO4_ENST00000392979.3_Missense_Mutation_p.P920S			Q32M45	ANO4_HUMAN	anoctamin 4	955					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)	p.P920S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAACGAGTGGCCGTGACCATG	0.488										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)	p.P920S(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(2863-2865)Ccg>Tcg		Homo sapiens anoctamin 4 (ANO4), mRNA.							98	67	77					12																	101520843		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520843C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2863C>T	12.37:g.101520843C>T	ENSP00000376703:p.Pro955Ser	HNSCC(74;0.22)	Somatic				ANO4_uc001thw.2_Missense_Mutation_p.P920S|ANO4_uc001thx.2_Missense_Mutation_p.P955S|ANO4_uc001thy.2_Missense_Mutation_p.P475S	p.P955S	NM_178826	NP_849148	WXS	Illumina GAIIx	Phase_I	Q32M45	ANO4_HUMAN			26	3435	+			955					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2863C>T		.	.	.	.	.	.	.	.	.	.	C	26.6	4.753853	0.89843	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.71698	-0.54;-0.27;-0.59;-0.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80165	-0.1496	10	0.87932	D	0	.	19.9299	0.97115	0.0:1.0:0.0:0.0	.	475;955;920	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	920;475;955;475	ENSP00000376705:P920S;ENSP00000299222:P475S;ENSP00000376703:P955S;ENSP00000450192:P475S	ENSP00000299222:P475S	P	+	1	0	ANO4	100044974	1.000000	0.71417	0.998000	0.56505	0.697000	0.40408	7.772000	0.85439	2.769000	0.95229	0.655000	0.94253	CCG		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		3	46	0	0	0	1	0	3	46					T	101520843	C	T	101520843	3	4	10	1	0	0	0	0	1	0	0	0	699	739	26	2	2856	2	ANO4	12	101520843	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	46944548	101520843	32331052	8	256											
TRMT5	57570	broad.mit.edu	37	14	61442344	61442344	+	Silent	SNP	A	A	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr14:61442344A>C	ENST00000261249.6	-	4	1677	c.1293T>G	c.(1291-1293)gtT>gtG	p.V431V	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CCCTTTGCCGAACATCCTCAG	0.483																																						uc001xff.4																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(1291-1293)gtT>gtG		Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.							103	98	99					14																	61442344		2203	4300	6503	SO:0001819	synonymous_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442344A>C	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"tRNA (guanine(37)-N1)-methyltransferase"	611023	"KIAA1393", "tRNA methyltransferase 5 homolog (S. cerevisiae)"	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1293T>G	14.37:g.61442344A>C			Somatic					p.V431V	NM_020810	NP_065861	WXS	Illumina GAIIx	Phase_I	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	3	1384	-			431						Silent	SNP	ENST00000261249.6	37	c.1293T>G	CCDS32092.1																																																																																				0.483	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		8	148	0	0	0	1	0	8	148					C	61442344	A	C	61442344	2	2	10	1	0	0	0	0	0	0	0	1	16564	233	9	5		5	TRMT5	14	61442344	Silent	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		61442344	45907196	9	257											
MYO5C	55930	broad.mit.edu	37	15	52486124	52486124	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr15:52486124T>C	ENST00000261839.7	-	41	5365	c.5204A>G	c.(5203-5205)aAg>aGg	p.K1735R	GNB5_ENST00000261837.7_5'Flank|RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1735						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AAAGCCTAGCTTGAAACTGCT	0.383																																						uc010bff.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5203-5205)aAg>aGg		Homo sapiens myosin VC (MYO5C), mRNA.							114	111	112					15																	52486124		1822	4083	5905	SO:0001583	missense	55930					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	g.chr15:52486124T>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.5204A>G	15.37:g.52486124T>C	ENSP00000261839:p.Lys1735Arg		Somatic				GNB5_uc002abt.1_5'Flank|MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Intron	p.K1735R	NM_018728	NP_061198	WXS	Illumina GAIIx	Phase_I	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	40	5366	-			1735					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.5204A>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860440	0.51482	.	.	ENSG00000128833	ENST00000261839	D	0.88509	-2.39	4.85	4.85	0.62838	.	0.123458	0.53938	D	0.000041	D	0.85230	0.5649	L	0.54323	1.7	0.80722	D	1	P	0.42827	0.791	B	0.38616	0.277	D	0.83539	0.0095	10	0.20519	T	0.43	.	14.5988	0.68424	0.0:0.0:0.0:1.0	.	1735	Q9NQX4	MYO5C_HUMAN	R	1735	ENSP00000261839:K1735R	ENSP00000261839:K1735R	K	-	2	0	MYO5C	50273416	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.129000	0.57957	2.045000	0.60652	0.455000	0.32223	AAG		0.383	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		21	221	0	0	0	1	0	21	221					C	52486124	T	C	52486124	3	2	10	1	0	0	0	0	1	0	0	0	10080	1609	56	3	28	3	MYO5C	15	52486124	Missense_Mutation	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		52486124	50045268	10	258											
CHD9	80205	broad.mit.edu	37	16	53243396	53243396	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr16:53243396T>C	ENST00000398510.3	+	2	1542	c.1455T>C	c.(1453-1455)ccT>ccC	p.P485P	CHD9_ENST00000564845.1_Silent_p.P485P|CHD9_ENST00000566029.1_Silent_p.P485P|CHD9_ENST00000447540.1_Silent_p.P485P			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	485					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTCTGTAGCCTCCATCTTCCA	0.343																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1453-1455)ccT>ccC		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							33	30	31					16																	53243396		1803	4074	5877	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53243396T>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1455T>C	16.37:g.53243396T>C			Somatic				CHD9_uc002egy.3_Silent_p.P485P|CHD9_uc002egz.1_Silent_p.P485P|CHD9_uc002ehc.3_Silent_p.P485P|CHD9_uc002ehd.2_Silent_p.P11P	p.P485P	NM_025134	NP_079410	WXS	Illumina GAIIx	Phase_I	Q3L8U1	CHD9_HUMAN			1	1619	+		all_cancers(37;0.0212)	485					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.1455T>C																																																																																					0.343	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	33	0	0	0	1	0	3	33					C	53243396	T	C	53243396	2	2	10	1	0	0	0	0	0	0	0	1	3332	1538	54	3		3	CHD9	16	53243396	Silent	SNP	T	TCGA-BJ-A0ZG-01A-11D-A10S-08		53243396	37111357	11	259											
CLIP3	25999	broad.mit.edu	37	19	36509847	36509847	+	Missense_Mutation	SNP	C	C	T	rs368502619		TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:36509847C>T	ENST00000360535.4	-	9	1363	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R379Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	379					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGTCCATCCGGGGGGTCCG	0.612																																						uc010eeq.2																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1135-1137)cGg>cAg		Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	65	67	66		1136,1136	4.9	1.0	19		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLIP3	NM_001199570.1,NM_015526.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	379/548,379/548	36509847	1,13005	2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36509847C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1136G>A	19.37:g.36509847C>T	ENSP00000353732:p.Arg379Gln		Somatic				BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.R379Q	p.R379Q	NM_001199570	NP_001186499	WXS	Illumina GAIIx	Phase_I	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	1450	-	Esophageal squamous(110;0.162)		379					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1136G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558751	0.96514	0.0	1.16E-4	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.75050	-0.9	4.87	4.87	0.63330	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.67948	-0.5538	10	0.16896	T	0.51	-26.029	15.5566	0.76200	0.0:1.0:0.0:0.0	.	379	Q96DZ5	CLIP3_HUMAN	Q	379;261;355	ENSP00000353732:R379Q	ENSP00000353732:R379Q	R	-	2	0	CLIP3	41201687	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.623000	0.74238	2.558000	0.86282	0.650000	0.86243	CGG		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		19	135	0	0	0	1	0	19	135					T	36509847	C	T	36509847	3	4	10	1	0	0	0	0	1	0	0	0	3534	652	23	1	531	1	CLIP3	19	36509847	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		36509847	22619136	12	260											
ZNF790	388536	broad.mit.edu	37	19	37309574	37309574	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr19:37309574C>T	ENST00000356725.4	-	5	1792	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	558					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGTTCTGCATCAGTATGAATT	0.358																																						uc021utk.1																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1672-1674)Gat>Aat		Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.							109	109	109					19																	37309574		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309574C>T	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1672G>A	19.37:g.37309574C>T	ENSP00000349161:p.Asp558Asn		Somatic				LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.D558N|ZNF790_uc021utl.1_Missense_Mutation_p.D558N|ZNF790_uc021utm.1_Missense_Mutation_p.D558N	p.D558N	NM_001242802	NP_001229731	WXS	Illumina GAIIx	Phase_I	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		4	2101	-	Esophageal squamous(110;0.183)		558						Missense_Mutation	SNP	ENST00000356725.4	37	c.1672G>A	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	5.035	0.192147	0.09599	.	.	ENSG00000197863	ENST00000356725	T	0.60299	0.2	3.18	-0.434	0.12283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30166	0.0756	N	0.08118	0	0.19300	N	0.999973	B	0.06786	0.001	B	0.04013	0.001	T	0.19128	-1.0315	9	0.66056	D	0.02	.	1.3832	0.02234	0.1712:0.4532:0.1674:0.2083	.	558	Q6PG37	ZN790_HUMAN	N	558	ENSP00000349161:D558N	ENSP00000349161:D558N	D	-	1	0	ZNF790	42001414	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.577000	0.23758	-0.089000	0.12484	-0.282000	0.10007	GAT		0.358	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		8	239	0	0	0	1	0	8	239					T	37309574	C	T	37309574	3	4	10	1	0	0	0	0	1	0	0	0	18159	826	29	2	242	2	ZNF790	19	37309574	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	799727	37309574	21819409	13	261											
LAMA5	3911	broad.mit.edu	37	20	60910087	60910087	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr20:60910087A>C	ENST00000252999.3	-	20	2538	c.2472T>G	c.(2470-2472)ttT>ttG	p.F824L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	824	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)			TGCGGCAGCCAAAATAGTCAG	0.652																																						uc002ycq.3																			0				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						c.(2470-2472)ttT>ttG		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						61	49	53					20																	60910087		2203	4299	6502	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60910087A>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2472T>G	20.37:g.60910087A>C	ENSP00000252999:p.Phe824Leu		Somatic				LAMA5_uc021wfw.1_Missense_Mutation_p.F824L|MIR4758_uc021wfx.1_5'Flank	p.F824L	NM_005560	NP_005551	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		19	2539	-	Breast(26;1.57e-08)		824			Laminin EGF-like 10.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2472T>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246579	0.59103	.	.	ENSG00000130702	ENST00000252999	T	0.52526	0.66	5.1	-6.16	0.02098	EGF-like, laminin (4);	0.050890	0.85682	D	0.000000	T	0.32194	0.0821	L	0.31664	0.95	0.80722	D	1	P	0.42908	0.793	B	0.42386	0.386	T	0.28202	-1.0051	10	0.27082	T	0.32	.	15.345	0.74330	0.705:0.0:0.295:0.0	.	824	O15230	LAMA5_HUMAN	L	824	ENSP00000252999:F824L	ENSP00000252999:F824L	F	-	3	2	LAMA5	60343482	0.045000	0.20229	0.888000	0.34837	0.176000	0.22953	-0.432000	0.06956	-1.019000	0.03358	-2.156000	0.00330	TTT		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	55	0	0	0	1	0	3	55					C	60910087	A	C	60910087	3	2	10	1	0	0	0	0	1	0	0	0	8609	127	5	5	8859	5	LAMA5	20	60910087	Missense_Mutation	SNP	A	TCGA-BJ-A0ZG-01A-11D-A10S-08		60910087	2115433	14	262											
KRTAP13-4	284827	broad.mit.edu	37	21	31802980	31802980	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chr21:31802980C>A	ENST00000334068.2	+	1	409	c.387C>A	c.(385-387)tcC>tcA	p.S129S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	129						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GTTACGGATCCAGATTCTGCT	0.473																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(385-387)tcC>tcA		Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.							104	93	97					21																	31802980		2203	4300	6503	SO:0001819	synonymous_variant	284827					intermediate filament		g.chr21:31802980C>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.387C>A	21.37:g.31802980C>A			Somatic					p.S129S	NM_181600	NP_853631	WXS	Illumina GAIIx	Phase_I	Q3LI77	KR134_HUMAN			0	387	+			129					A2RRL3	Silent	SNP	ENST00000334068.2	37	c.387C>A	CCDS13592.1																																																																																				0.473	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			8	105	0	0	0	1	0	8	105					A	31802980	C	A	31802980	2	1	10	1	0	0	0	0	0	0	0	1	8525	581	21	4		4	KRTAP13-4	21	31802980	Silent	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		31802980	16326915	15	263											
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	EIF1AX_ENST00000379593.1_Intron|snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_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																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.							143	133	136					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp		Somatic				SCARNA9L_uc010nfp.3_5'Flank	p.G9D	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			1	234	-			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	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	EIF1AX	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			63	38	0	0	0	1	0	63	38					T	20156731	C	T	20156731	3	4	10	1	0	0	0	0	1	0	0	0	4992	507	18	2	432	2	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08		20156731	135113829	16	264											
ABCD1	215	broad.mit.edu	37	X	152991197	152991197	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZG-01A-11D-A10S-08	TCGA-BJ-A0ZG-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36359097-f78d-46ea-9944-0f763b96f6dc	00b180fc-6158-4ed3-a8b3-2ef314e66bd1	g.chrX:152991197C>T	ENST00000218104.3	+	1	875	c.476C>T	c.(475-477)gCc>gTc	p.A159V	BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000441714.1_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000458587.2_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	159	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				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)					GGCCAACTGGCCCTGTCGTTC	0.647																																						uc004fif.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(475-477)gCc>gTc		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.							56	47	50					X																	152991197		2202	4300	6502	SO:0001583	missense	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:152991197C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.476C>T	X.37:g.152991197C>T	ENSP00000218104:p.Ala159Val		Somatic				BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	p.A159V	NM_000033	NP_000024	WXS	Illumina GAIIx	Phase_I	P33897	ABCD1_HUMAN			0	875	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		159			ABC transmembrane type-1.|Interaction with PEX19.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.476C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385635	0.61956	.	.	ENSG00000101986	ENST00000218104	D	0.95035	-3.59	5.24	5.24	0.73138	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.297872	0.31909	N	0.006869	D	0.96990	0.9017	M	0.86343	2.81	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	D	0.97178	0.9849	10	0.59425	D	0.04	-25.2022	11.7198	0.51675	0.0:0.6959:0.3041:0.0	.	159	P33897	ABCD1_HUMAN	V	159	ENSP00000218104:A159V	ENSP00000218104:A159V	A	+	2	0	ABCD1	152644391	1.000000	0.71417	0.988000	0.46212	0.608000	0.37181	1.369000	0.34227	2.183000	0.69458	0.436000	0.28706	GCC		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	39	0	0	0	1	0	3	39					T	152991197	C	T	152991197	3	4	10	1	0	0	0	0	1	0	0	0	60	739	26	2	478	2	ABCD1	23	152991197	Missense_Mutation	SNP	C	TCGA-BJ-A0ZG-01A-11D-A10S-08	132834466	152991197	2279363	17	265											
EXOSC10	5394	broad.mit.edu	37	1	11129618	11129618	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:11129618G>A	ENST00000376936.4	-	22	2535	c.2486C>T	c.(2485-2487)gCt>gTt	p.A829V	RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Missense_Mutation_p.A804V|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	829					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTCCTCACCAGCAAAAGCCTT	0.502																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2485-2487)gCt>gTt		Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.							289	306	300					1																	11129618		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity	g.chr1:11129618G>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2486C>T	1.37:g.11129618G>A	ENSP00000366135:p.Ala829Val		Somatic				EXOSC10_uc001asb.3_Missense_Mutation_p.A804V	p.A829V	NM_001001998	NP_001001998	WXS	Illumina GAIIx	Phase_I	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	21	2536	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	829					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.2486C>T	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152714	0.78001	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.39	5.39	0.77823	.	0.156804	0.56097	D	0.000035	T	0.60958	0.2309	L	0.32530	0.975	0.80722	D	1	P;B	0.35033	0.481;0.051	B;B	0.42798	0.398;0.036	T	0.62115	-0.6922	9	0.49607	T	0.09	-6.2263	17.7533	0.88441	0.0:0.0:1.0:0.0	.	804;829	Q01780-2;Q01780	.;EXOSX_HUMAN	V	829;804	.	ENSP00000307307:A804V	A	-	2	0	EXOSC10	11052205	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.447000	0.80620	2.526000	0.85167	0.563000	0.77884	GCT		0.502	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		6	624	0	0	0	1	0	6	624					A	11129618	G	A	11129618	3	1	11	1	0	0	0	0	1	0	0	0	5314	971	34	2	187	2	EXOSC10	1	11129618	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		11129618	238121003	1	266											
CGN	57530	broad.mit.edu	37	1	151491515	151491515	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:151491515C>T	ENST00000271636.7	+	2	653	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	168	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGACACTGCTCCCCTGTCTTC	0.592																																						uc009wmw.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(520-522)Ccc>Tcc		Homo sapiens cingulin (CGN), mRNA.							82	85	84					1																	151491515		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491515C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.520C>T	1.37:g.151491515C>T	ENSP00000271636:p.Pro174Ser		Somatic					p.P174S	NM_020770	NP_065821	WXS	Illumina GAIIx	Phase_I	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	664	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		168			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.520C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490402	0.64074	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.60920	1.59;0.15	4.93	4.93	0.64822	.	0.252195	0.40728	N	0.001026	T	0.40322	0.1112	L	0.31926	0.97	0.58432	D	0.999999	P	0.43750	0.816	B	0.43809	0.432	T	0.20240	-1.0281	9	.	.	.	-22.4433	17.2425	0.87017	0.0:1.0:0.0:0.0	.	168	Q9P2M7	CING_HUMAN	S	174	ENSP00000410836:P174S;ENSP00000271636:P174S	.	P	+	1	0	CGN	149758139	0.910000	0.30920	1.000000	0.80357	0.992000	0.81027	2.273000	0.43381	2.739000	0.93911	0.561000	0.74099	CCC		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		6	171	0	0	0	1	0	6	171					T	151491515	C	T	151491515	3	4	11	1	0	0	0	0	1	0	0	0	3303	855	30	2	522	2	CGN	1	151491515	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	140361897	151491515	97759106	2	267											
CCDC19	25790	broad.mit.edu	37	1	159842908	159842908	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr1:159842908G>A	ENST00000368099.4	-	11	1467	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	RP11-190A12.7_ENST00000544342.1_5'Flank|CCDC19_ENST00000426543.2_Missense_Mutation_p.A383V|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCCCTGTGGCCTTTTTCTC	0.602																																						uc001fui.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1402-1404)gCc>gTc		Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.							59	56	57					1																	159842908		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159842908G>A																												ENST00000368099.4:c.1403C>T	1.37:g.159842908G>A	ENSP00000357079:p.Ala468Val		Somatic				CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.A383V|CCDC19_uc001fuj.3_Non-coding_Transcript	p.A468V	NM_012337	NP_036469	WXS	Illumina GAIIx	Phase_I	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		10	1421	-	all_hematologic(112;0.0597)		468						Missense_Mutation	SNP	ENST00000368099.4	37	c.1403C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	7.187	0.590715	0.13812	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.09911	2.93;2.93	5.26	3.28	0.37604	.	0.601844	0.18527	N	0.138585	T	0.02848	0.0085	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.38394	-0.9663	9	.	.	.	-3.8175	4.6071	0.12383	0.088:0.1491:0.61:0.1529	.	468	Q9UL16	CCD19_HUMAN	V	468;383	ENSP00000357079:A468V;ENSP00000403044:A383V	.	A	-	2	0	CCDC19	158109532	0.004000	0.15560	0.075000	0.20258	0.334000	0.28698	0.680000	0.25306	1.346000	0.45694	0.655000	0.94253	GCC		0.602	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			25	49	0	0	0	1	0	25	49					A	159842908	G	A	159842908	3	1	11	1	0	0	0	0	1	0	0	0	2795	1203	42	2	260	2	CCDC19	1	159842908	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	8351393	159842908	89407713	3	268											
SETD2	29072	broad.mit.edu	37	3	47162712	47162712	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr3:47162712C>G	ENST00000409792.3	-	3	3456	c.3414G>C	c.(3412-3414)gaG>gaC	p.E1138D		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1138					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)		CCGGATTCTTCTCTGTTCCTT	0.373			"N, F, S, Mis"		clear cell renal carcinoma																																	uc003cqv.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0		p.H1126Y(2)		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.(3379-3381)gaG>gaC		Homo sapiens SET domain containing 2 (SETD2), mRNA.							123	133	130					3																	47162712		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162712C>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3414G>C	3.37:g.47162712C>G	ENSP00000386759:p.Glu1138Asp		Somatic				SETD2_uc003cqs.3_Missense_Mutation_p.E1138D	p.E1127D	NM_014159	NP_054878	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	2	3467	-		Acute lymphoblastic leukemia(5;0.0169)	1138					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3381G>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736484	0.15574	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89415	-2.51;1.3	5.55	3.62	0.41486	.	0.099661	0.43919	D	0.000511	T	0.77751	0.4177	N	0.12182	0.205	0.27807	N	0.942261	B;B	0.14805	0.011;0.005	B;B	0.19946	0.027;0.007	T	0.67810	-0.5574	10	0.34782	T	0.22	.	9.9627	0.41706	0.2076:0.7193:0.0:0.0731	.	1138;1138	F2Z317;Q9BYW2	.;SETD2_HUMAN	D	1138;1138;1138;1094	ENSP00000386759:E1138D;ENSP00000416401:E1094D	ENSP00000386759:E1138D	E	-	3	2	SETD2	47137716	0.476000	0.25901	0.997000	0.53966	0.768000	0.43524	-0.383000	0.07398	1.567000	0.49668	0.655000	0.94253	GAG		0.373	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	220	0	0	0	1	0	12	220					G	47162712	C	G	47162712	3	3	11	1	0	0	0	0	1	0	0	0	14131	912	32	4	4356	4	SETD2	3	47162712	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		47162712	150859718	4	269											
SPARCL1	8404	broad.mit.edu	37	4	88415391	88415391	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr4:88415391A>T	ENST00000282470.6	-	4	1031	c.561T>A	c.(559-561)gaT>gaA	p.D187E	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D187E|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D62E	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	187					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)		GGTTTCCTTGATCCCTTAGGC	0.398																																						uc010ikm.3																			0		p.R186M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(559-561)gaT>gaA		Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.							251	258	256					4																	88415391		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415391A>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	11220	protein-coding gene	gene with protein product		606041	"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.561T>A	4.37:g.88415391A>T	ENSP00000282470:p.Asp187Glu		Somatic				SPARCL1_uc011cdc.2_Missense_Mutation_p.D62E|SPARCL1_uc003hqs.4_Missense_Mutation_p.D187E|SPARCL1_uc011cdd.2_Missense_Mutation_p.D62E	p.D187E	NM_001128310	NP_004675	WXS	Illumina GAIIx	Phase_I	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	4	1133	-			187					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.561T>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	A	7.300	0.612912	0.14066	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.23552	2.48;2.48;1.9	4.95	-3.55	0.04639	.	1.223850	0.05506	N	0.559255	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.26155	-1.0111	10	0.02654	T	1	-3.0531	0.0986	0.00046	0.3601:0.1855:0.1895:0.265	.	187;187	Q8N4S1;Q14515	.;SPRL1_HUMAN	E	187;187;62;62	ENSP00000282470:D187E;ENSP00000414856:D187E;ENSP00000422903:D62E	ENSP00000282470:D187E	D	-	3	2	SPARCL1	88634415	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	-0.470000	0.06639	-0.612000	0.05701	-0.408000	0.06270	GAT		0.398	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			8	577	0	0	0	1	0	8	577					T	88415391	A	T	88415391	3	4	11	1	0	0	0	0	1	0	0	0	14995	330	12	5	1465	5	SPARCL1	4	88415391	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08		88415391	102738885	5	270											
GHR	2690	broad.mit.edu	37	5	42718766	42718766	+	Missense_Mutation	SNP	G	G	A	rs180778998	byFrequency	TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:42718766G>A	ENST00000230882.4	+	10	1347	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.R364H|GHR_ENST00000537449.1_Missense_Mutation_p.R199H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	386					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACTCTGGACGTACCAGCTGT	0.473													G|||	2	0.000399361	0	0	5008	,	,		19814	0.001		0	False		,,,				2504	0.001					uc021xxv.1																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1177-1179)cGt>cAt		Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						151	117	129					5																	42718766		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718766G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1157G>A	5.37:g.42718766G>A	ENSP00000230882:p.Arg386His		Somatic				GHR_uc003jmt.3_Missense_Mutation_p.R386H|GHR_uc003jmu.3_Missense_Mutation_p.R386H|GHR_uc003jmv.2_Missense_Mutation_p.R386H|GHR_uc021xxw.1_Missense_Mutation_p.R386H|GHR_uc021xxx.1_Missense_Mutation_p.R386H|GHR_uc021xxy.1_Missense_Mutation_p.R386H|GHR_uc021xxz.1_Missense_Mutation_p.R386H|GHR_uc021xya.1_Missense_Mutation_p.R386H|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.R199H|GHR_uc021xyd.1_Missense_Mutation_p.R364H	p.R393H	NM_001242399	NP_001229328	WXS	Illumina GAIIx	Phase_I	P10912	GHR_HUMAN			9	1315	+		Myeloproliferative disorder(839;0.00878)	386					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1178G>A	CCDS3940.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.60	3.858190	0.71834	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.46819	0.86;0.86;0.86	5.86	5.0	0.66597	.	0.139321	0.64402	N	0.000002	T	0.65790	0.2725	M	0.91663	3.23	0.80722	D	1	P	0.52170	0.951	P	0.49085	0.6	T	0.76214	-0.3041	10	0.87932	D	0	-7.4586	15.0984	0.72253	0.0681:0.0:0.9319:0.0	.	386	P10912	GHR_HUMAN	H	386;364;199	ENSP00000230882:R386H;ENSP00000350335:R364H;ENSP00000442206:R199H	ENSP00000230882:R386H	R	+	2	0	GHR	42754523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.666000	0.74446	1.494000	0.48533	0.591000	0.81541	CGT		0.473	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		6	169	0	0	0	1	0	6	169					A	42718766	G	A	42718766	3	1	11	1	0	0	0	0	1	0	0	0	6371	1145	40	1	1191	1	GHR	5	42718766	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		42718766	138196494	6	271											
CNOT6	57472	broad.mit.edu	37	5	179996203	179996203	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr5:179996203T>C	ENST00000393356.1	+	12	1545	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	CNOT6_ENST00000261951.4_Missense_Mutation_p.V374A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	374	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|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)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTGAAGTTGGTACAAACTATG	0.413																																						uc003mlx.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1120-1122)gTa>gCa		Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.							118	113	115					5																	179996203		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding	g.chr5:179996203T>C	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1121T>C	5.37:g.179996203T>C	ENSP00000377024:p.Val374Ala		Somatic				CNOT6_uc010jld.3_Missense_Mutation_p.V374A|CNOT6_uc010jle.3_Missense_Mutation_p.V369A	p.V374A	NM_015455	NP_056270	WXS	Illumina GAIIx	Phase_I	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	9	1470	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	374					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1121T>C	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031245	0.93575	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.79033	-1.23;-1.23	5.86	5.86	0.93980	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	N	0.20574	0.59	0.80722	D	1	P	0.50156	0.932	P	0.53313	0.723	T	0.73968	-0.3815	9	.	.	.	-14.3907	16.2605	0.82541	0.0:0.0:0.0:1.0	.	374	Q9ULM6	CNOT6_HUMAN	A	374	ENSP00000261951:V374A;ENSP00000377024:V374A	.	V	+	2	0	CNOT6	179928809	1.000000	0.71417	0.963000	0.40424	0.868000	0.49771	8.040000	0.89188	2.237000	0.73441	0.460000	0.39030	GTA		0.413	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		3	157	0	0	0	1	0	3	157					C	179996203	T	C	179996203	3	2	11	1	0	0	0	0	1	0	0	0	3622	1638	57	3	1155	3	CNOT6	5	179996203	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08	137277437	179996203	919057	7	272											
DSP	1832	broad.mit.edu	37	6	7585761	7585761	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr6:7585761A>G	ENST00000379802.3	+	24	8607	c.8266A>G	c.(8266-8268)Ata>Gta	p.I2756V	DSP_ENST00000418664.2_Missense_Mutation_p.I2157V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2756	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGGGTTCATAGATGGCCG	0.537																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8266-8268)Ata>Gta		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							61	68	66					6																	7585761		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585761A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8266A>G	6.37:g.7585761A>G	ENSP00000369129:p.Ile2756Val		Somatic				DSP_uc003mxq.1_Missense_Mutation_p.I2157V|DSP_uc021yle.1_Missense_Mutation_p.I2313V	p.I2756V	NM_004415	NP_004406	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	8545	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2756			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8266A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	2.316	-0.356658	0.05138	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76709	-1.04;-1.04	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000005	T	0.80319	0.4601	L	0.53671	1.685	0.25457	N	0.987957	P;P	0.46656	0.485;0.882	P;D	0.68765	0.593;0.96	T	0.74355	-0.3692	10	0.37606	T	0.19	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	2204;2756	Q4LE79;P15924	.;DESP_HUMAN	V	2756;2157	ENSP00000369129:I2756V;ENSP00000396591:I2157V	ENSP00000369129:I2756V	I	+	1	0	DSP	7530760	1.000000	0.71417	0.975000	0.42487	0.084000	0.17831	2.999000	0.49473	2.209000	0.71365	0.533000	0.62120	ATA		0.537	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	152	0	0	0	1	0	5	152					G	7585761	A	G	7585761	3	3	11	1	0	0	0	0	1	0	0	0	4781	217	8	3	8360	3	DSP	6	7585761	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08		7585761	163529306	8	273											
NOD1	10392	broad.mit.edu	37	7	30491380	30491380	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:30491380C>A	ENST00000222823.4	-	6	2178	c.1653G>T	c.(1651-1653)gcG>gcT	p.A551A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	551					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|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)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGCTGCCCCCGCAGGGGGCA	0.622																																						uc003tav.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1651-1653)gcG>gcT		Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.							54	63	60					7																	30491380		2203	4300	6503	SO:0001819	synonymous_variant	10392				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491380C>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1653G>T	7.37:g.30491380C>A			Somatic					p.A551A	NM_006092	NP_006083	WXS	Illumina GAIIx	Phase_I	Q9Y239	NOD1_HUMAN			5	2176	-			551					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1653G>T	CCDS5427.1																																																																																				0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			4	177	0	0	0	1	0	4	177					A	30491380	C	A	30491380	2	1	11	1	0	0	0	0	0	0	0	1	10516	639	23	4		4	NOD1	7	30491380	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		30491380	128647283	9	274											
PARP12	64761	broad.mit.edu	37	7	139757774	139757774	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:139757774A>G	ENST00000263549.3	-	2	1260	c.387T>C	c.(385-387)acT>acC	p.T129T		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	129						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAACGCCATGAGTTCTCAGCA	0.483																																						uc003vvl.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(385-387)acT>acC		Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.							216	172	187					7																	139757774		2203	4300	6503	SO:0001819	synonymous_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139757774A>G	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.387T>C	7.37:g.139757774A>G			Somatic				PARP12_uc010lnf.1_Non-coding_Transcript	p.T129T	NM_022750	NP_073587	WXS	Illumina GAIIx	Phase_I	Q9H0J9	PAR12_HUMAN			1	1261	-	Melanoma(164;0.0142)		129					Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	c.387T>C	CCDS5857.1																																																																																				0.483	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		3	170	0	0	0	1	0	3	170					G	139757774	A	G	139757774	2	3	11	1	0	0	0	0	0	0	0	1	11457	291	11	3		3	PARP12	7	139757774	Silent	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	109266394	139757774	19380889	10	275											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	71	0	0	0	1	0	33	71					T	140453136	A	T	140453136	3	4	11	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	695362	140453136	18685527	11	276											
DKK4	27121	broad.mit.edu	37	8	42231877	42231877	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr8:42231877C>A	ENST00000220812.2	-	4	602	c.416G>T	c.(415-417)gGa>gTa	p.G139V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	139					multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCCCTCTTGTCCTGTAACAAG	0.463																																						uc003xpb.3																			0				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						c.e4-1		Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.							66	65	65					8																	42231877		2203	4300	6503	SO:0001630	splice_region_variant	27121				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region		g.chr8:42231877C>A	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"dickkopf (Xenopus laevis) homolog 4", "dickkopf homolog 4 (Xenopus laevis)"			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.416-1G>T	8.37:g.42231877C>A			Somatic					p.G139_splice	NM_014420	NP_055235	WXS	Illumina GAIIx	Phase_I	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	527	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	139					Q3KNX0|Q9Y4C3	Splice_Site	SNP	ENST00000220812.2	37	c.416_splice	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850588	0.71719	.	.	ENSG00000104371	ENST00000220812	T	0.41065	1.01	5.76	5.76	0.90799	.	0.103185	0.43260	D	0.000584	T	0.66713	0.2817	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.69555	-0.5114	10	0.87932	D	0	.	17.4796	0.87669	0.0:1.0:0.0:0.0	.	139	Q9UBT3	DKK4_HUMAN	V	139	ENSP00000220812:G139V	ENSP00000220812:G139V	G	-	2	0	DKK4	42351034	0.999000	0.42202	1.000000	0.80357	0.398000	0.30690	3.694000	0.54742	2.706000	0.92434	0.655000	0.94253	GGA		0.463	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1		Missense_Mutation	4	120	0	0	0	1	0	4	120					A	42231877	C	A	42231877	5	1	11	1	0	0	0	0	0	0	1	0	4547	869	30	4	262	4	DKK4	8	42231877	Splice_Site	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		42231877	104132145	12	277											
PIGO	84720	broad.mit.edu	37	9	35092632	35092632	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:35092632C>T	ENST00000378617.3	-	7	1646	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	PIGO_ENST00000298004.5_Missense_Mutation_p.E418K|PIGO_ENST00000361778.2_Missense_Mutation_p.E418K|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.E418K	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	418					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGTCGCCTCAGCCCCCTTG	0.587																																						uc003zwd.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1252-1254)Gag>Aag		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.							52	58	56					9																	35092632		2188	4281	6469	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092632C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1252G>A	9.37:g.35092632C>T	ENSP00000367880:p.Glu418Lys		Somatic				PIGO_uc003zwe.3_Missense_Mutation_p.E418K|PIGO_uc003zwf.3_Missense_Mutation_p.E418K|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR	p.E418K	NM_032634	NP_116023	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		6	1648	-			418					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1252G>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568625	0.13560	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.55930	0.53;0.49;0.49;0.53	5.38	5.38	0.77491	.	0.448691	0.24078	N	0.041743	T	0.48169	0.1485	M	0.61703	1.905	0.24242	N	0.995352	B;B	0.21452	0.007;0.056	B;B	0.15484	0.003;0.013	T	0.30297	-0.9983	10	0.18276	T	0.48	-25.6264	13.6251	0.62159	0.0:0.9238:0.0:0.0762	.	418;418	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	K	418	ENSP00000298004:E418K;ENSP00000367880:E418K;ENSP00000339382:E418K;ENSP00000354678:E418K	ENSP00000298004:E418K	E	-	1	0	PIGO	35082632	0.935000	0.31712	0.667000	0.29798	0.181000	0.23173	2.821000	0.48065	2.813000	0.96785	0.655000	0.94253	GAG		0.587	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		17	67	0	0	0	1	0	17	67					T	35092632	C	T	35092632	3	4	11	1	0	0	0	0	1	0	0	0	11894	835	29	2	2037	2	PIGO	9	35092632	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		35092632	106120799	13	278											
PTGES2	80142	broad.mit.edu	37	9	130885238	130885238	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr9:130885238G>C	ENST00000338961.6	-	5	1606	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V	PTGES2_ENST00000277462.5_Missense_Mutation_p.L97V|PTGES2_ENST00000483625.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	288	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCTGATGAGGTACATGGCC	0.627																																						uc004bti.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(862-864)Ctc>Gtc		Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.							117	93	101					9																	130885238		2203	4300	6503	SO:0001583	missense	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130885238G>C	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"chromosome 9 open reading frame 15"	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.862C>G	9.37:g.130885238G>C	ENSP00000345341:p.Leu288Val		Somatic				PTGES2_uc004btk.3_Missense_Mutation_p.L97V|PTGES2_uc004btl.3_Missense_Mutation_p.L97V	p.L288V	NM_025072	NP_079348	WXS	Illumina GAIIx	Phase_I	Q9H7Z7	PGES2_HUMAN			4	1340	-			288			GST C-terminal.		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	c.862C>G	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768380	0.31320	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.45668	0.96;0.96;0.89	5.42	-6.25	0.02039	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.672579	0.15519	N	0.258125	T	0.17959	0.0431	N	0.19112	0.55	0.27388	N	0.955231	B	0.02656	0.0	B	0.04013	0.001	T	0.07233	-1.0783	10	0.33141	T	0.24	-14.5339	3.6901	0.08343	0.5629:0.0909:0.1749:0.1712	.	288	Q9H7Z7	PGES2_HUMAN	V	288;97;253	ENSP00000345341:L288V;ENSP00000277462:L97V;ENSP00000411378:L253V	ENSP00000277462:L97V	L	-	1	0	PTGES2	129925059	0.001000	0.12720	0.974000	0.42286	0.983000	0.72400	-1.501000	0.02281	-0.638000	0.05509	0.561000	0.74099	CTC		0.627	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			4	86	0	0	0	1	0	4	86					C	130885238	G	C	130885238	3	2	11	1	0	0	0	0	1	0	0	0	12747	1000	35	4	283	4	PTGES2	9	130885238	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	95792606	130885238	10328193	14	279											
CYP2E1	1571	broad.mit.edu	37	10	135345689	135345689	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr10:135345689C>G	ENST00000463117.2	+	6	821	c.549C>G	c.(547-549)atC>atG	p.I183M	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.I183M			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	183					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TAGCCGACATCCTCTTCCGCA	0.522									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(547-549)atC>atG		Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						140	126	130					10																	135345689		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345689C>G	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.549C>G	10.37:g.135345689C>G	ENSP00000440689:p.Ile183Met		Somatic				CYP2E1_uc001lnk.1_Missense_Mutation_p.I46M|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	p.I183M	NM_000773	NP_000764	WXS	Illumina GAIIx	Phase_I	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	3	582	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	183					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.549C>G	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581111	0.46006	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.59	2.69	0.31865	.	0.102744	0.64402	D	0.000003	T	0.71787	0.3381	L	0.37897	1.145	0.31294	N	0.689112	D	0.64830	0.994	D	0.91635	0.999	T	0.70226	-0.4930	10	0.87932	D	0	.	3.7861	0.08702	0.168:0.5797:0.1627:0.0896	.	183	P05181	CP2E1_HUMAN	M	183;183;96;46	ENSP00000440689:I183M;ENSP00000252945:I183M;ENSP00000412754:I96M;ENSP00000397299:I46M	ENSP00000252945:I183M	I	+	3	3	CYP2E1	135195679	0.950000	0.32346	0.999000	0.59377	0.428000	0.31595	-0.080000	0.11339	0.822000	0.34565	0.655000	0.94253	ATC		0.522	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		11	160	0	0	0	1	0	11	160					G	135345689	C	G	135345689	3	3	11	1	0	0	0	0	1	0	0	0	4170	845	30	4	563	4	CYP2E1	10	135345689	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		135345689	189058	15	280											
LRRC4C	57689	broad.mit.edu	37	11	40137758	40137758	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr11:40137758C>T	ENST00000278198.2	-	2	2048	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	LRRC4C_ENST00000530763.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.V29M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V29M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	29					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCCAGCAGCACCACAAGCAGG	0.498																																						uc001mxa.1																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(85-87)Gtg>Atg		Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.							71	69	70					11																	40137758		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137758C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.85G>A	11.37:g.40137758C>T	ENSP00000278198:p.Val29Met		Somatic				LRRC4C_uc001mxc.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxd.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxb.1_Missense_Mutation_p.V25M|LRRC4C_uc021qgf.1_Missense_Mutation_p.V29M	p.V29M	NM_020929	NP_065980	WXS	Illumina GAIIx	Phase_I	Q9HCJ2	LRC4C_HUMAN			1	2049	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	29					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.85G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577678	0.45902	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763;ENST00000533474	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.76	5.76	0.90799	.	0.071131	0.56097	D	0.000024	T	0.38904	0.1058	N	0.14661	0.345	0.36362	D	0.860747	B	0.31290	0.318	B	0.25405	0.06	T	0.49021	-0.8982	10	0.62326	D	0.03	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	29	Q9HCJ2	LRC4C_HUMAN	M	29	ENSP00000278198:V29M;ENSP00000436976:V29M;ENSP00000437132:V29M;ENSP00000434761:V29M	ENSP00000278198:V29M	V	-	1	0	LRRC4C	40094334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.272000	0.65559	2.719000	0.93026	0.650000	0.86243	GTG		0.498	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	37	0	0	0	1	0	12	37					T	40137758	C	T	40137758	3	4	11	1	0	0	0	0	1	0	0	0	9008	507	18	2	1841	2	LRRC4C	11	40137758	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		40137758	94868758	16	281											
PTPRO	5800	broad.mit.edu	37	12	15636959	15636959	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:15636959T>C	ENST00000281171.4	+	2	457	c.127T>C	c.(127-129)Tca>Cca	p.S43P	PTPRO_ENST00000348962.2_Missense_Mutation_p.S43P|PTPRO_ENST00000543886.1_Missense_Mutation_p.S43P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	43					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCGTTGTCTCATTAGAAGC	0.348																																						uc001rcv.2																			0		p.S43S(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(127-129)Tca>Cca		Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.							93	93	93					12																	15636959		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15636959T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.127T>C	12.37:g.15636959T>C	ENSP00000281171:p.Ser43Pro		Somatic				PTPRO_uc001rcw.2_Missense_Mutation_p.S43P|PTPRO_uc001rcu.2_Missense_Mutation_p.S43P	p.S43P	NM_030667	NP_109592	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			1	597	+		Hepatocellular(102;0.244)	43					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.127T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023107	0.75275	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04551	3.6;3.6	5.48	5.48	0.80851	Fibronectin, type III (1);	0.000000	0.51477	D	0.000100	T	0.12603	0.0306	L	0.27053	0.805	0.80722	D	1	D;D;D	0.67145	0.996;0.988;0.995	P;P;D	0.72982	0.857;0.723;0.979	T	0.04229	-1.0967	10	0.87932	D	0	.	15.5822	0.76452	0.0:0.0:0.0:1.0	.	43;43;43	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	P	43	ENSP00000281171:S43P;ENSP00000343434:S43P	ENSP00000281171:S43P	S	+	1	0	PTPRO	15528226	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	5.828000	0.69307	2.080000	0.62538	0.533000	0.62120	TCA		0.348	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			41	104	0	0	0	1	0	41	104					C	15636959	T	C	15636959	3	2	11	1	0	0	0	0	1	0	0	0	12809	1551	54	3	133	3	PTPRO	12	15636959	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08		15636959	118214936	17	282											
DENND5B	160518	broad.mit.edu	37	12	31605154	31605154	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:31605154C>T	ENST00000389082.5	-	5	1613	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	DENND5B_ENST00000536562.1_Missense_Mutation_p.G485D|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.G485D|DENND5B_ENST00000354285.4_Missense_Mutation_p.G472D	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	450					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTTTCATTGCCCTTCAGTAA	0.448																																						uc001rkh.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1453-1455)gGc>gAc		Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.							176	173	174					12																	31605154		1940	4140	6080	SO:0001583	missense	160518					integral to membrane		g.chr12:31605154C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1349G>A	12.37:g.31605154C>T	ENSP00000373734:p.Gly450Asp		Somatic				DENND5B_uc001rki.1_Missense_Mutation_p.G450D|DENND5B_uc001rkj.3_Missense_Mutation_p.G472D|DENND5B_uc001rkk.1_Missense_Mutation_p.G372D	p.G485D	NM_144973	NP_659410	WXS	Illumina GAIIx	Phase_I	Q6ZUT9	DEN5B_HUMAN			6	1605	-			450					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1454G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525367	0.44969	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.54323	1.7	0.58432	D	0.999999	B;P;B;B	0.37061	0.321;0.58;0.215;0.321	B;B;B;B	0.38755	0.138;0.281;0.065;0.138	T	0.35375	-0.9791	10	0.13853	T	0.58	-22.9198	17.7861	0.88538	0.0:1.0:0.0:0.0	.	372;472;450;485	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	D	450;485;485;472;402	ENSP00000373734:G450D;ENSP00000306482:G485D;ENSP00000444889:G485D;ENSP00000346238:G472D;ENSP00000442938:G402D	ENSP00000306482:G485D	G	-	2	0	DENND5B	31496421	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	1.157000	0.31724	2.421000	0.82119	0.563000	0.77884	GGC		0.448	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	315	0	0	0	1	0	7	315					T	31605154	C	T	31605154	3	4	11	1	0	0	0	0	1	0	0	0	4437	739	26	2	2543	2	DENND5B	12	31605154	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	15968195	31605154	102246741	18	283											
UNG	7374	broad.mit.edu	37	12	109536206	109536206	+	Silent	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr12:109536206C>G	ENST00000336865.2	+	1	284	c.75C>G	c.(73-75)ctC>ctG	p.L25L	UNG_ENST00000242576.2_Intron	NM_003362.3	NP_003353.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CGCTGCAGCTCTTGAGCCGCC	0.697								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													uc001toa.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(73-75)ctC>ctG	Base excision repair (BER), DNA glycosylases	Homo sapiens uracil-DNA glycosylase (UNG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							20	23	22					12																	109536206		2194	4265	6459	SO:0001819	synonymous_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109536206C>G	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000336865.2:c.75C>G	12.37:g.109536206C>G			Somatic				UNG_uc001tnz.2_Intron	p.L25L	NM_003362	NP_003353	WXS	Illumina GAIIx	Phase_I	P13051	UNG_HUMAN			0	284	+			0						Silent	SNP	ENST00000336865.2	37	c.75C>G	CCDS9125.1																																																																																				0.697	UNG-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000403069.1	NM_080911		5	67	0	0	0	1	0	5	67					G	109536206	C	G	109536206	2	3	11	1	0	0	0	0	0	0	0	1	16996	900	32	4		4	UNG	12	109536206	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	77931052	109536206	24315689	19	284											
BRCA2	675	broad.mit.edu	37	13	32953493	32953493	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr13:32953493C>T	ENST00000380152.3	+	22	9027	c.8794C>T	c.(8794-8796)Cac>Tac	p.H2932Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.H2932Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2932					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)		CTTGAATAATCACAGGCAAAT	0.363			"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)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		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.(8794-8796)Cac>Tac	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							95	91	92					13																	32953493		2203	4300	6503	SO:0001583	missense	675	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	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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	g.chr13:32953493C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8794C>T	13.37:g.32953493C>T	ENSP00000369497:p.His2932Tyr	TCGA Ovarian(8;0.087)	Somatic					p.H2932Y	NM_000059	NP_000050	WXS	Illumina GAIIx	Phase_I	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)	21	9021	+		Lung SC(185;0.0262)	2932					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8794C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001906	0.35320	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.54675	0.56;0.56	5.6	4.74	0.60224	Nucleic acid-binding, OB-fold-like (1);	0.103307	0.64402	N	0.000002	T	0.37156	0.0993	N	0.26130	0.795	0.34960	D	0.752104	P	0.42409	0.779	B	0.37480	0.251	T	0.50389	-0.8834	10	0.30078	T	0.28	.	11.9964	0.53206	0.0:0.8541:0.0:0.1459	.	2932	P51587	BRCA2_HUMAN	Y	2932	ENSP00000369497:H2932Y;ENSP00000439902:H2932Y	ENSP00000369497:H2932Y	H	+	1	0	BRCA2	31851493	0.619000	0.27059	0.992000	0.48379	0.974000	0.67602	1.054000	0.30455	1.470000	0.48102	0.563000	0.77884	CAC		0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		9	73	0	0	0	1	0	9	73					T	32953493	C	T	32953493	3	4	11	1	0	0	0	0	1	0	0	0	1499	826	29	2	8876	2	BRCA2	13	32953493	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		32953493	82216385	20	285											
CBLN3	643866	broad.mit.edu	37	14	24897090	24897090	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:24897090G>A	ENST00000267406.6	-	3	993	c.523C>T	c.(523-525)Cct>Tct	p.P175S	CBLN3_ENST00000555436.1_Missense_Mutation_p.P124S|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000553935.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	175	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGGTCCCCAGGGTCCAAGGGC	0.587																																						uc001wpg.4																			0				central_nervous_system(1)|lung(3)	4						c.(523-525)Cct>Tct		Homo sapiens cerebellin 3 precursor (CBLN3), mRNA.							108	111	110					14																	24897090		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897090G>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.523C>T	14.37:g.24897090G>A	ENSP00000267406:p.Pro175Ser		Somatic				KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank	p.P175S	NM_001039771	NP_001034860	WXS	Illumina GAIIx	Phase_I	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	2	994	-			175			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Missense_Mutation	SNP	ENST00000267406.6	37	c.523C>T	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157515	0.57368	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.74526	-0.85;-0.85	5.62	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.49916	D	0.000135	T	0.64864	0.2637	N	0.24115	0.695	0.33425	D	0.580397	P	0.38551	0.636	P	0.46452	0.517	T	0.66019	-0.6027	10	0.08599	T	0.76	-11.4589	11.5084	0.50481	0.0:0.0:0.6737:0.3263	.	175	Q6UW01	CBLN3_HUMAN	S	175;124	ENSP00000267406:P175S;ENSP00000450935:P124S	ENSP00000267406:P175S	P	-	1	0	CBLN3	23966930	0.998000	0.40836	0.983000	0.44433	0.987000	0.75469	1.755000	0.38379	1.352000	0.45808	0.561000	0.74099	CCT		0.587	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		7	196	0	0	0	1	0	7	196					A	24897090	G	A	24897090	3	1	11	1	0	0	0	0	1	0	0	0	2706	1232	43	2	98	2	CBLN3	14	24897090	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		24897090	82452450	21	286											
ERO1L	30001	broad.mit.edu	37	14	53150513	53150513	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:53150513T>C	ENST00000395686.3	-	2	450	c.227A>G	c.(226-228)tAt>tGt	p.Y76C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	76					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					taCCTTGTAATACCTAAAGTA	0.259																																						uc001wzv.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(226-228)tAt>tGt		Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.							30	29	29					14																	53150513		2194	4294	6488	SO:0001583	missense	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53150513T>C	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.227A>G	14.37:g.53150513T>C	ENSP00000379042:p.Tyr76Cys		Somatic					p.Y76C	NM_014584	NP_055399	WXS	Illumina GAIIx	Phase_I	Q96HE7	ERO1A_HUMAN			1	447	-	Breast(41;0.226)		76					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	c.227A>G	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346956	0.61183	.	.	ENSG00000197930	ENST00000395686	T	0.54675	0.56	5.54	5.54	0.83059	.	0.059391	0.64402	D	0.000002	T	0.80138	0.4568	M	0.94142	3.5	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	D	0.86003	0.1496	10	0.87932	D	0	-24.3564	15.6262	0.76859	0.0:0.0:0.0:1.0	.	76	Q96HE7	ERO1A_HUMAN	C	76	ENSP00000379042:Y76C	ENSP00000379042:Y76C	Y	-	2	0	ERO1L	52220263	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.131000	0.57970	2.232000	0.73038	0.533000	0.62120	TAT		0.259	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		3	33	0	0	0	1	0	3	33					C	53150513	T	C	53150513	3	2	11	1	0	0	0	0	1	0	0	0	5239	1406	49	3	1239	3	ERO1L	14	53150513	Missense_Mutation	SNP	T	TCGA-BJ-A0ZH-01A-11D-A10S-08	28253423	53150513	54199027	22	287											
TTC8	123016	broad.mit.edu	37	14	89319349	89319349	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr14:89319349C>G	ENST00000345383.5	+	7	713	c.629C>G	c.(628-630)tCt>tGt	p.S210C	TTC8_ENST00000380656.2_Missense_Mutation_p.S220C|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_Missense_Mutation_p.S22C|TTC8_ENST00000346301.4_Missense_Mutation_p.S180C|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000338104.6_Missense_Mutation_p.S236C	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	246					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						ACAGAACATTCTCAGTACAAG	0.363																																						uc010ath.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(706-708)tCt>tGt		Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.							89	79	83					14																	89319349		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.chr14:89319349C>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.629C>G	14.37:g.89319349C>G	ENSP00000339486:p.Ser210Cys		Somatic				TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.S220C|TTC8_uc001xxj.3_Missense_Mutation_p.S210C|TTC8_uc001xxk.3_Missense_Mutation_p.S180C|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_Missense_Mutation_p.S22C|TTC8_uc010atj.3_Intron	p.S236C	NM_198309	NP_938051	WXS	Illumina GAIIx	Phase_I	Q8TAM2	TTC8_HUMAN			7	841	+			246					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.707C>G	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.289165|2.289165	0.40494|0.40494	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000554686|ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000358622	.|T;T;T;T;T	.|0.78364	.|-1.16;-1.13;-1.17;-1.17;-1.12	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.232860	.|0.44902	.|D	.|0.000402	T|T	0.66771|0.66771	0.2823|0.2823	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.49961	.|0.93;0.0;0.002	.|P;B;B	.|0.47206	.|0.541;0.002;0.005	T|T	0.66148|0.66148	-0.5996|-0.5996	5|10	.|0.19590	.|T	.|0.45	-15.1555|-15.1555	18.9747|18.9747	0.92731|0.92731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246;190;220	.|Q8TAM2;Q8TAM2-3;Q8TAM2-4	.|TTC8_HUMAN;.;.	V|C	170|210;180;236;220;22	.|ENSP00000339486:S210C;ENSP00000298324:S180C;ENSP00000337653:S236C;ENSP00000370031:S220C;ENSP00000351439:S22C	.|ENSP00000337653:S236C	L|S	+|+	1|2	0|0	TTC8|TTC8	88389102|88389102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.960000|6.960000	0.76036|0.76036	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.363	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		31	65	0	0	0	1	0	31	65					G	89319349	C	G	89319349	3	3	11	1	0	0	0	0	1	0	0	0	16711	913	32	4	689	4	TTC8	14	89319349	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	36168836	89319349	18030191	23	288											
GPR56	9289	broad.mit.edu	37	16	57695714	57695714	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr16:57695714C>T	ENST00000388812.4	+	13	2228	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	GPR56_ENST00000379696.3_Silent_p.I596I|GPR56_ENST00000544297.1_Silent_p.I415I|GPR56_ENST00000379694.4_Silent_p.I426I|GPR56_ENST00000540164.2_Silent_p.I590I|GPR56_ENST00000568908.1_Silent_p.I590I|GPR56_ENST00000538815.1_Silent_p.I590I|GPR56_ENST00000567835.1_Silent_p.I596I|GPR56_ENST00000562631.1_Silent_p.I590I|GPR56_ENST00000562558.1_Silent_p.I590I|GPR56_ENST00000388813.5_Silent_p.I590I|GPR56_ENST00000568909.1_Silent_p.I596I|GPR56_ENST00000456916.1_Silent_p.I596I			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	596					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGCAGATCCTGCGGCTGC	0.602																																						uc002emb.2																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1786-1788)atC>atT		Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.							130	110	117					16																	57695714		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57695714C>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1788C>T	16.37:g.57695714C>T			Somatic				GPR56_uc002ema.1_Silent_p.I421I|GPR56_uc002emc.2_Silent_p.I590I|GPR56_uc002emf.2_Silent_p.I590I|GPR56_uc010vhs.1_Silent_p.I596I|GPR56_uc002emd.2_Silent_p.I590I|GPR56_uc002eme.2_Silent_p.I590I|GPR56_uc010vht.1_Silent_p.I595I|GPR56_uc002emg.3_Silent_p.I590I|GPR56_uc010vhu.1_Silent_p.I415I	p.I596I	NM_005682	NP_005673	WXS	Illumina GAIIx	Phase_I	Q9Y653	GPR56_HUMAN			13	2080	+			596					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1788C>T	CCDS32460.1																																																																																				0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			4	118	0	0	0	1	0	4	118					T	57695714	C	T	57695714	2	4	11	1	0	0	0	0	0	0	0	1	6700	845	30	2		2	GPR56	16	57695714	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		57695714	32659039	24	289											
TUSC5	286753	broad.mit.edu	37	17	1198817	1198817	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:1198817C>T	ENST00000333813.3	+	2	759	c.420C>T	c.(418-420)gaC>gaT	p.D140D		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	140					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAACGTGGACGGCGCCCGGA	0.622																																						uc002fsi.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(418-420)gaC>gaT		Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.							99	115	110					17																	1198817		2090	4225	6315	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1198817C>T	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.420C>T	17.37:g.1198817C>T			Somatic					p.D140D	NM_172367	NP_758955	WXS	Illumina GAIIx	Phase_I	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	759	+			140					A6NMK4	Silent	SNP	ENST00000333813.3	37	c.420C>T	CCDS42225.1																																																																																				0.622	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		13	226	0	0	0	1	0	13	226					T	1198817	C	T	1198817	2	4	11	1	0	0	0	0	0	0	0	1	16776	535	19	1		1	TUSC5	17	1198817	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		1198817	79996393	25	290											
LUC7L3	51747	broad.mit.edu	37	17	48823271	48823271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:48823271C>A	ENST00000505658.1	+	8	1073	c.884C>A	c.(883-885)tCa>tAa	p.S295*	LUC7L3_ENST00000544170.1_Nonsense_Mutation_p.S219*|LUC7L3_ENST00000393227.2_Nonsense_Mutation_p.S295*|LUC7L3_ENST00000240304.1_Nonsense_Mutation_p.S295*			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	295	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAAGTCGTTCACGAAGTAGA	0.458																																						uc002isq.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(883-885)tCa>tAa		Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA.							64	63	63					17																	48823271		2203	4300	6503	SO:0001587	stop_gained	51747				RNA splicing|apoptosis|mRNA processing|response to stress	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48823271C>A		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"cisplatin resistance associated overexpressed protein", "CRE-associated protein"	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.884C>A	17.37:g.48823271C>A	ENSP00000425092:p.Ser295*		Somatic				LUC7L3_uc010wmw.2_Nonsense_Mutation_p.S219*|LUC7L3_uc002isr.3_Nonsense_Mutation_p.S295*|LUC7L3_uc002iss.3_Nonsense_Mutation_p.S295*	p.S295*	NM_016424	NP_057508	WXS	Illumina GAIIx	Phase_I	O95232	LC7L3_HUMAN			7	1052	+			295			Arg/Ser-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Nonsense_Mutation	SNP	ENST00000505658.1	37	c.884C>A	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727933	0.97792	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.499	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	295;295;295;219	.	ENSP00000240304:S295X	S	+	2	0	LUC7L3	46178270	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.604000	0.74150	2.824000	0.97209	0.655000	0.94253	TCA		0.458	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		6	17	0	0	0	1	0	6	17					A	48823271	C	A	48823271	4	1	11	1	0	0	0	0	0	1	0	0	9084	838	29	4	914	4	LUC7L3	17	48823271	Nonsense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	47624454	48823271	32371939	26	291											
UNC13D	201294	broad.mit.edu	37	17	73831849	73831849	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr17:73831849G>A	ENST00000207549.4	-	19	1985	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	UNC13D_ENST00000412096.2_Missense_Mutation_p.R536W	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	536	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGCACCCGCTTGGCCACC	0.622									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1606-1608)Cgg>Tgg		Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.							73	78	77					17																	73831849		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831849G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1606C>T	17.37:g.73831849G>A	ENSP00000207549:p.Arg536Trp		Somatic				UNC13D_uc010wsk.1_Missense_Mutation_p.R536W|UNC13D_uc002jpq.1_Missense_Mutation_p.R186W	p.R536W	NM_199242	NP_954712	WXS	Illumina GAIIx	Phase_I	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	1986	-			536			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1606C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713370	0.48517	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.81	-1.93	0.07594	.	0.475057	0.20803	N	0.085394	T	0.67059	0.2853	L	0.51422	1.61	0.33672	D	0.611012	D;D	0.71674	0.998;0.984	P;B	0.50970	0.655;0.42	T	0.72966	-0.4131	10	0.52906	T	0.07	-24.9033	9.9618	0.41701	0.0672:0.0:0.3373:0.5954	.	536;536	Q70J99-3;Q70J99	.;UN13D_HUMAN	W	536	ENSP00000207549:R536W;ENSP00000388093:R536W	ENSP00000207549:R536W	R	-	1	2	UNC13D	71343444	0.305000	0.24481	0.962000	0.40283	0.468000	0.32798	0.583000	0.23849	-0.224000	0.09928	0.561000	0.74099	CGG		0.622	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		4	164	0	0	0	1	0	4	164					A	73831849	G	A	73831849	3	1	11	1	0	0	0	0	1	0	0	0	16984	1086	38	1	1722	1	UNC13D	17	73831849	Missense_Mutation	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	25008578	73831849	7363361	27	292											
EVI5L	115704	broad.mit.edu	37	19	7914210	7914210	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:7914210C>A	ENST00000270530.4	+	5	817	c.621C>A	c.(619-621)ctC>ctA	p.L207L	EVI5L_ENST00000538904.2_Silent_p.L207L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	207	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCTGCTCCTCATGCAGGTAG	0.647																																						uc010xjz.2																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(619-621)ctC>ctA		Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.							53	49	50					19																	7914210		2203	4300	6503	SO:0001819	synonymous_variant	115704					intracellular	Rab GTPase activator activity|protein binding	g.chr19:7914210C>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.621C>A	19.37:g.7914210C>A			Somatic				EVI5L_uc002min.3_Silent_p.L207L|EVI5L_uc002mio.1_5'Flank	p.L207L	NM_001159944	NP_001153416	WXS	Illumina GAIIx	Phase_I	Q96CN4	EVI5L_HUMAN			3	668	+			207			Rab-GAP TBC.		B9A6I9	Silent	SNP	ENST00000270530.4	37	c.621C>A	CCDS12188.1																																																																																				0.647	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		4	88	0	0	0	1	0	4	88					A	7914210	C	A	7914210	2	1	11	1	0	0	0	0	0	0	0	1	5290	813	29	4		4	EVI5L	19	7914210	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		7914210	51214773	28	293											
MUC16	94025	broad.mit.edu	37	19	9011326	9011326	+	Silent	SNP	G	G	C			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:9011326G>C	ENST00000397910.4	-	36	39110	c.38907C>G	c.(38905-38907)gtC>gtG	p.V12969V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12971	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						GTTCACCATTGACATAGAGAC	0.537																																						uc002mkp.3																			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.(38905-38907)gtC>gtG		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							204	176	185					19																	9011326		1988	4188	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011326G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38907C>G	19.37:g.9011326G>C			Somatic				MUC16_uc021uog.1_Intron	p.V12969V	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			35	39111	-			12971			SEA 6.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38907C>G	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	283	0	0	0	1	0	9	283					C	9011326	G	C	9011326	2	2	11	1	0	0	0	0	0	0	0	1	9973	1277	45	4		4	MUC16	19	9011326	Silent	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08	1097116	9011326	50117657	29	294											
ZNF146	7705	broad.mit.edu	37	19	36727354	36727354	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:36727354C>T	ENST00000443387.2	+	4	1004	c.12C>T	c.(10-12)ctC>ctT	p.L4L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Silent_p.L4L	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	4					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGTCACACCTCAGCCAGCAGA	0.418																																						uc002odq.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(10-12)ctC>ctT		Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.							42	43	43					19																	36727354		2203	4300	6503	SO:0001819	synonymous_variant	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727354C>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"Zinc fingers, C2H2-type"	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.12C>T	19.37:g.36727354C>T			Somatic				ZNF146_uc010eet.3_Silent_p.L4L|ZNF146_uc010eeu.3_Silent_p.L4L|ZNF146_uc021ute.1_Silent_p.L4L	p.L4L	NM_007145	NP_009076	WXS	Illumina GAIIx	Phase_I	Q15072	OZF_HUMAN			3	1535	+	Esophageal squamous(110;0.162)		4					Q2TB94	Silent	SNP	ENST00000443387.2	37	c.12C>T	CCDS12492.1																																																																																				0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		4	69	0	0	0	1	0	4	69					T	36727354	C	T	36727354	2	4	11	1	0	0	0	0	0	0	0	1	17730	813	29	2		2	ZNF146	19	36727354	Silent	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	27716028	36727354	22401629	30	295											
ZNF28	7576	broad.mit.edu	37	19	53303160	53303160	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53303160C>G	ENST00000457749.2	-	4	2057	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	ZNF28_ENST00000360272.4_Missense_Mutation_p.Q593H|ZNF28_ENST00000414252.2_Missense_Mutation_p.Q593H|ZNF28_ENST00000438150.2_Missense_Mutation_p.Q593H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	646					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)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGGATGACATCTGACTGAAGG	0.433																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1936-1938)caG>caC		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							199	188	192					19																	53303160		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303160C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1938G>C	19.37:g.53303160C>G	ENSP00000397693:p.Gln646His		Somatic				ZNF28_uc002qac.3_Missense_Mutation_p.Q592H|ZNF28_uc010eqe.3_Missense_Mutation_p.Q592H|ZNF28_uc021uza.1_Missense_Mutation_p.Q593H	p.Q646H	NM_006969	NP_008900	WXS	Illumina GAIIx	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	2095	-			646					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1938G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.007	-2.009686	0.00426	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	1.81	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	N	0.02960	-0.455	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.22243	-1.0222	9	0.12103	T	0.63	.	2.4612	0.04541	0.1308:0.4448:0.2623:0.162	.	646	P17035	ZNF28_HUMAN	H	593;646;593;593	ENSP00000412143:Q593H;ENSP00000397693:Q646H;ENSP00000353410:Q593H;ENSP00000444965:Q593H	ENSP00000353410:Q593H	Q	-	3	2	ZNF28	57994972	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-10.817000	0.00005	-1.540000	0.01730	-1.341000	0.01249	CAG		0.433	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	354	0	0	0	1	0	15	354					G	53303160	C	G	53303160	3	3	11	1	0	0	0	0	1	0	0	0	17810	912	32	4	222	4	ZNF28	19	53303160	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	16575806	53303160	5825823	31	296			1	3		3	3	1617	C		1.76252e-06
ZNF28	7576	broad.mit.edu	37	19	53304746	53304746	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304746C>G	ENST00000457749.2	-	4	471	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.E65Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.E65Q|ZNF28_ENST00000438150.2_Missense_Mutation_p.E65Q|ZNF28_ENST00000339844.6_3'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E65*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGTCAACTCTTTGATTTCT	0.403																																						uc002qad.3																			1	Substitution - Nonsense(1)	p.E65*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(352-354)Gag>Cag		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							279	259	266					19																	53304746		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304746C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.352G>C	19.37:g.53304746C>G	ENSP00000397693:p.Glu118Gln		Somatic				ZNF28_uc002qac.3_Missense_Mutation_p.E64Q|ZNF28_uc010eqe.3_Missense_Mutation_p.E64Q|ZNF28_uc021uza.1_Missense_Mutation_p.E65Q	p.E118Q	NM_006969	NP_008900	WXS	Illumina GAIIx	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	509	-			118					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.352G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.899	-0.722846	0.03158	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783;ENST00000339844	T;T;T;T;T	0.08282	3.11;3.2;3.11;3.11;3.15	1.81	0.681	0.17986	.	.	.	.	.	T	0.06872	0.0175	L	0.40543	1.245	0.09310	N	1	B	0.18310	0.027	B	0.12156	0.007	T	0.36625	-0.9740	9	0.87932	D	0	.	3.6643	0.08250	0.0:0.2246:0.0:0.7754	.	118	P17035	ZNF28_HUMAN	Q	65;118;65;65;65;6	ENSP00000412143:E65Q;ENSP00000397693:E118Q;ENSP00000353410:E65Q;ENSP00000444965:E65Q;ENSP00000375661:E65Q	ENSP00000344777:E6Q	E	-	1	0	ZNF28	57996558	0.000000	0.05858	0.012000	0.15200	0.032000	0.12392	0.105000	0.15333	-0.001000	0.14495	-0.849000	0.03036	GAG		0.403	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		15	459	0	0	0	1	0	15	459					G	53304746	C	G	53304746	3	3	11	1	0	0	0	0	1	0	0	0	17810	922	32	4	1808	4	ZNF28	19	53304746	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	1586	53304746	5824237	32	297			1	3		3	3	1617	C		1.76252e-06
ZNF28	7576	broad.mit.edu	37	19	53304776	53304776	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr19:53304776C>G	ENST00000457749.2	-	4	441	c.322G>C	c.(322-324)Gac>Cac	p.D108H	ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.D55H|ZNF28_ENST00000414252.2_Missense_Mutation_p.D55H|ZNF28_ENST00000438150.2_Missense_Mutation_p.D55H|ZNF28_ENST00000339844.6_3'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	108					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)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCTGCATGGTCATTTGTTTCA	0.408																																						uc002qad.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(322-324)Gac>Cac		Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.							267	251	257					19																	53304776		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304776C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.322G>C	19.37:g.53304776C>G	ENSP00000397693:p.Asp108His		Somatic				ZNF28_uc002qac.3_Missense_Mutation_p.D54H|ZNF28_uc010eqe.3_Missense_Mutation_p.D54H|ZNF28_uc021uza.1_Missense_Mutation_p.D55H	p.D108H	NM_006969	NP_008900	WXS	Illumina GAIIx	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	479	-			108					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.322G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.652332	0.00785	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08008	3.14;3.25;3.14;3.14;3.18	1.81	-3.62	0.04543	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.31790	0.34	B	0.30855	0.121	T	0.33828	-0.9853	9	0.16420	T	0.52	.	3.2709	0.06882	0.2845:0.3677:0.0:0.3478	.	108	P17035	ZNF28_HUMAN	H	55;108;55;55;55	ENSP00000412143:D55H;ENSP00000397693:D108H;ENSP00000353410:D55H;ENSP00000444965:D55H;ENSP00000375661:D55H	ENSP00000353410:D55H	D	-	1	0	ZNF28	57996588	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.519000	0.06260	-2.621000	0.00439	-0.708000	0.03648	GAC		0.408	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		12	442	0	0	0	1	0	12	442					G	53304776	C	G	53304776	3	3	11	1	0	0	0	0	1	0	0	0	17810	826	29	4	1838	4	ZNF28	19	53304776	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08	30	53304776	5824207	33	298			1	3		3	3	1617	C		1.76252e-06
MOCS3	8813	broad.mit.edu	37	20	49575532	49575532	+	5'Flank	SNP	G	G	A			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chr20:49575532G>A	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Silent_p.P51P|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGCTGCCGCCGAAGGCCGCTC	0.652																																						uc002xvy.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(151-153)ccG>ccA		Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.							35	42	40					20																	49575532		2192	4281	6473	SO:0001631	upstream_gene_variant	27304				Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity	g.chr20:49575532G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575532G>A	Exception_encountered		Somatic				DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.P51P	NM_014484	NP_055299	WXS	Illumina GAIIx	Phase_I	O95396	MOCS3_HUMAN			0	170	+			51					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.153G>A	CCDS13434.1																																																																																				0.652	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		4	89	0	0	0	1	0	4	89					A	49575532	G	A	49575532	1	1	11	0	1	0	0	0	0	0	0	0	9692	1045	37	1		1	MOCS3	20	49575532	5'Flank	SNP	G	TCGA-BJ-A0ZH-01A-11D-A10S-08		49575532	13449988	34	299											
ARSH	347527	broad.mit.edu	37	X	2947386	2947386	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:2947386C>G	ENST00000381130.2	+	8	1298	c.1298C>G	c.(1297-1299)aCg>aGg	p.T433R		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	433					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)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATCTGCACACGGTCAGGTGG	0.572																																						uc011mhj.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1297-1299)aCg>aGg		Homo sapiens arylsulfatase family, member H (ARSH), mRNA.							125	96	106					X																	2947386		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2947386C>G	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1298C>G	X.37:g.2947386C>G	ENSP00000370522:p.Thr433Arg		Somatic					p.T433R	NM_001011719	NP_001011719	WXS	Illumina GAIIx	Phase_I	Q5FYA8	ARSH_HUMAN			7	1298	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	433						Missense_Mutation	SNP	ENST00000381130.2	37	c.1298C>G	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440573	0.43326	.	.	ENSG00000205667	ENST00000381130	D	0.90261	-2.64	3.5	3.5	0.40072	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.214552	0.39475	U	0.001345	D	0.90628	0.7061	L	0.41124	1.26	0.28576	N	0.910362	P	0.42993	0.797	P	0.52454	0.699	D	0.86910	0.2060	10	0.66056	D	0.02	.	14.4689	0.67501	0.0:1.0:0.0:0.0	.	433	Q5FYA8	ARSH_HUMAN	R	433	ENSP00000370522:T433R	ENSP00000370522:T433R	T	+	2	0	ARSH	2957386	0.999000	0.42202	0.001000	0.08648	0.019000	0.09904	6.342000	0.72982	1.377000	0.46286	0.600000	0.82982	ACG		0.572	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		3	222	0	0	0	1	0	3	222					G	2947386	C	G	2947386	3	3	11	1	0	0	0	0	1	0	0	0	993	536	19	4	1328	4	ARSH	23	2947386	Missense_Mutation	SNP	C	TCGA-BJ-A0ZH-01A-11D-A10S-08		2947386	152323174	35	300											
GPRASP1	9737	broad.mit.edu	37	X	101910801	101910801	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZH-01A-11D-A10S-08	TCGA-BJ-A0ZH-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7480c602-9209-4768-997b-15b3d2ca1b14	8c99553b-4cbb-4d31-ae3d-dd596a654801	g.chrX:101910801A>T	ENST00000361600.5	+	5	2761	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L	GPRASP1_ENST00000415986.1_Missense_Mutation_p.M654L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.M654L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.M654L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	654	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGGTCAGTATGAAGCATGG	0.478																																						uc010nod.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1960-1962)Atg>Ttg		Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.							131	121	124					X																	101910801		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910801A>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1960A>T	X.37:g.101910801A>T	ENSP00000355146:p.Met654Leu		Somatic				ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M654L|GPRASP1_uc004ejj.4_Missense_Mutation_p.M654L|GPRASP1_uc004eji.4_Missense_Mutation_p.M654L|GPRASP1_uc022cbd.1_Missense_Mutation_p.M654L	p.M654L	NM_001099411	NP_055525	WXS	Illumina GAIIx	Phase_I	Q5JY77	GASP1_HUMAN			2	2602	+			654			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1960A>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.419860	0.25552	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	2.92	-1.05	0.10036	.	.	.	.	.	T	0.08358	0.0208	L	0.43152	1.355	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.42481	-0.9449	9	0.19147	T	0.46	-5.0989	7.3746	0.26821	0.4469:0.0:0.5531:0.0	.	654	Q5JY77	GASP1_HUMAN	L	654	ENSP00000393691:M654L;ENSP00000409420:M654L;ENSP00000355146:M654L;ENSP00000445683:M654L	ENSP00000355146:M654L	M	+	1	0	GPRASP1	101797457	0.276000	0.24211	0.005000	0.12908	0.047000	0.14425	-0.238000	0.08977	-0.293000	0.08986	0.422000	0.28245	ATG		0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		11	238	0	0	0	1	0	11	238					T	101910801	A	T	101910801	3	4	11	1	0	0	0	0	1	0	0	0	6722	449	16	5	1962	5	GPRASP1	23	101910801	Missense_Mutation	SNP	A	TCGA-BJ-A0ZH-01A-11D-A10S-08	98963415	101910801	53359759	36	301											
OR4A15	81328	broad.mit.edu	37	11	55135389	55135389	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr11:55135389T>C	ENST00000314706.3	+	1	30	c.30T>C	c.(28-30)ttT>ttC	p.F10F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCTCAAATTTATCACTGACC	0.413																																						uc010rif.2																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(28-30)ttT>ttC		Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.							54	48	50					11																	55135389		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135389T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.30T>C	11.37:g.55135389T>C			Somatic					p.F10F	NM_001005275	NP_001005275	WXS	Illumina GAIIx	Phase_I	Q8NGL6	O4A15_HUMAN			0	30	+			10					Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.30T>C	CCDS31500.1																																																																																				0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		4	78	0	0	0	1	0	4	78					C	55135389	T	C	55135389	2	2	12	1	0	0	0	0	0	0	0	1	11040	1751	61	3		3	OR4A15	11	55135389	Silent	SNP	T	TCGA-BJ-A0ZJ-01A-11D-A10S-08		55135389	79871127	1	302											
CASC5	57082	broad.mit.edu	37	15	40913253	40913253	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr15:40913253A>G	ENST00000346991.5	+	11	1259	c.869A>G	c.(868-870)gAt>gGt	p.D290G	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D264G			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	290	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAAGGAAGATGAAAATAAC	0.363																																						uc010bbs.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(868-870)gAt>gGt		Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.							51	49	50					15																	40913253		1833	4081	5914	SO:0001583	missense	57082				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913253A>G	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.869A>G	15.37:g.40913253A>G	ENSP00000335463:p.Asp290Gly		Somatic				CASC5_uc010ucq.1_Missense_Mutation_p.D114G|CASC5_uc001zme.3_Missense_Mutation_p.D264G|CASC5_uc010bbt.1_Missense_Mutation_p.D264G	p.D290G	NM_170589	NP_733468	WXS	Illumina GAIIx	Phase_I	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	10	1030	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	290			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.869A>G	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405228	0.25378	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.07114	3.23;3.22	5.92	3.55	0.40652	.	0.480600	0.20451	N	0.092081	T	0.10380	0.0254	M	0.61703	1.905	0.21802	N	0.999533	B;B;B	0.22003	0.01;0.01;0.063	B;B;B	0.18871	0.01;0.01;0.023	T	0.18429	-1.0337	10	0.54805	T	0.06	.	8.7411	0.34558	0.6981:0.2385:0.0634:0.0	.	264;290;264	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	290;264;264	ENSP00000335463:D290G;ENSP00000382576:D264G	ENSP00000260369:D264G	D	+	2	0	CASC5	38700545	0.076000	0.21285	0.460000	0.27093	0.019000	0.09904	0.541000	0.23207	0.460000	0.27045	0.383000	0.25322	GAT		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		6	93	0	0	0	1	0	6	93					G	40913253	A	G	40913253	3	3	12	1	0	0	0	0	1	0	0	0	2663	333	12	3	907	3	CASC5	15	40913253	Missense_Mutation	SNP	A	TCGA-BJ-A0ZJ-01A-11D-A10S-08		40913253	61618139	2	303											
TMEM188	255919	broad.mit.edu	37	16	50059581	50059581	+	Intron	SNP	G	G	A			TCGA-BJ-A0ZJ-01A-11D-A10S-08	TCGA-BJ-A0ZJ-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50437cd5-7611-4021-bba6-5a6597c8d024	219fccf2-bfd4-412a-bf0c-e865392d8b4e	g.chr16:50059581G>A	ENST00000427478.2	+	1	79				CNEP1R1_ENST00000562576.1_Intron|CNEP1R1_ENST00000565556.1_5'UTR|CNEP1R1_ENST00000458059.3_Silent_p.L15L|CNEP1R1_ENST00000567712.1_3'UTR	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1						lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											TTGTATCCCTGATTCCTGCGG	0.463																																						uc002eft.3																			0											c.(43-45)ctG>ctA		Homo sapiens transmembrane protein 188 (TMEM188), mRNA.							88	86	87					16																	50059581		1887	4122	6009	SO:0001627	intron_variant	255919					integral to membrane		g.chr16:50059581G>A	AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"nuclear envelope phosphatase 1-regulatory subunit 1"		"chromosome 16 open reading frame 69", "transmembrane protein 188"	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.25+330G>A	16.37:g.50059581G>A			Somatic				CNEP1R1_uc002efu.3_Intron|CNEP1R1_uc002efv.3_Intron	p.L15L	NM_153261	NP_694993	WXS	Illumina GAIIx	Phase_I	Q8N9A8	TM188_HUMAN			1	83	+			8	R -> G (in Ref. 2; CAI45924).				Q4G1A9|Q5H9V0|Q8NE06	Silent	SNP	ENST00000427478.2	37	c.45G>A																																																																																					0.463	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153261		12	55	0	0	0	1	0	12	55					A	50059581	G	A	50059581	1	1	12	0	1	0	0	0	0	0	0	0	16107	1277	45	2		2	TMEM188	16	50059581	Intron	SNP	G	TCGA-BJ-A0ZJ-01A-11D-A10S-08		50059581	40295172	3	304											
LPPR4	9890	broad.mit.edu	37	1	99771893	99771893	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:99771893C>G	ENST00000370185.3	+	7	2116	c.1619C>G	c.(1618-1620)aCt>aGt	p.T540S	LPPR4_ENST00000370184.1_Missense_Mutation_p.T382S|LPPR4_ENST00000457765.1_Missense_Mutation_p.T482S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		540					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCTGAGGAGACTCAGGAAAAC	0.557																																						uc001dse.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1618-1620)aCt>aGt		Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.							103	108	106					1																	99771893		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771893C>G																												ENST00000370185.3:c.1619C>G	1.37:g.99771893C>G	ENSP00000359204:p.Thr540Ser		Somatic				LPPR4_uc010oue.2_Missense_Mutation_p.T482S	p.T540S	NM_014839	NP_055654	WXS	Illumina GAIIx	Phase_I	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	6	1777	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	540					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1619C>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770978	0.31320	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.21932	2.55;2.56;1.98	5.62	5.62	0.85841	.	0.102345	0.64402	D	0.000002	T	0.19327	0.0464	L	0.28274	0.84	0.52099	D	0.999949	D;B	0.59767	0.986;0.032	P;B	0.55391	0.775;0.017	T	0.01245	-1.1407	9	.	.	.	-31.271	19.6433	0.95764	0.0:1.0:0.0:0.0	.	482;540	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	S	540;482;540;382	ENSP00000359204:T540S;ENSP00000394913:T482S;ENSP00000359203:T382S	.	T	+	2	0	RP4-788L13.1	99544481	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	3.693000	0.54735	2.638000	0.89438	0.591000	0.81541	ACT		0.557	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			3	41	0	0	0	1	0	3	41					G	99771893	C	G	99771893	3	3	13	1	0	0	0	0	1	0	0	0	8927	565	20	4	1645	4	LPPR4	1	99771893	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		99771893	149478728	1	305											
PRSS38	339501	broad.mit.edu	37	1	228033757	228033757	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:228033757G>A	ENST00000366757.3	+	5	853	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTACCCTGGAGTGTATGCCAG	0.547																																						uc001hrh.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(829-831)Gtg>Atg		Homo sapiens protease, serine, 38 (PRSS38), mRNA.							75	75	75					1																	228033757		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228033757G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.829G>A	1.37:g.228033757G>A	ENSP00000355719:p.Val277Met		Somatic					p.V277M	NM_183062	NP_898885	WXS	Illumina GAIIx	Phase_I	A1L453	PRS38_HUMAN			4	829	+			277			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.829G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385613	0.61956	.	.	ENSG00000185888	ENST00000366757	D	0.91631	-2.88	4.21	4.21	0.49690	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32328	N	0.006254	D	0.96728	0.8932	M	0.92459	3.31	0.32760	N	0.50529	D	0.89917	1.0	D	0.91635	0.999	D	0.98106	1.0417	10	0.87932	D	0	.	14.4345	0.67272	0.0:0.0:1.0:0.0	.	277	A1L453	PRS38_HUMAN	M	277	ENSP00000355719:V277M	ENSP00000355719:V277M	V	+	1	0	PRSS38	226100380	1.000000	0.71417	0.059000	0.19551	0.143000	0.21401	5.314000	0.65804	2.324000	0.78689	0.563000	0.77884	GTG		0.547	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		7	71	0	0	0	1	0	7	71					A	228033757	G	A	228033757	3	1	13	1	0	0	0	0	1	0	0	0	12627	1029	36	2	847	2	PRSS38	1	228033757	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	128261864	228033757	21216864	2	306											
MFSD2B	388931	broad.mit.edu	37	2	24245335	24245335	+	Silent	SNP	A	A	G	rs377638611		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:24245335A>G	ENST00000406420.3	+	9	943	c.927A>G	c.(925-927)acA>acG	p.T309T	MFSD2B_ENST00000338315.4_Silent_p.T309T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	309					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTTCTGTACACATGCCTCCC	0.607																																						uc002reo.2																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(925-927)acA>acG		Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.							61	59	60					2																	24245335		2129	4247	6376	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24245335A>G		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.927A>G	2.37:g.24245335A>G			Somatic					p.T309T	NM_001080473	NP_001073942	WXS	Illumina GAIIx	Phase_I	A6NFX1	MFS2B_HUMAN			8	941	+			309					B5MC32	Silent	SNP	ENST00000406420.3	37	c.927A>G	CCDS46228.1																																																																																				0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		14	20	0	0	0	1	0	14	20					G	24245335	A	G	24245335	2	3	13	1	0	0	0	0	0	0	0	1	9531	146	6	3		3	MFSD2B	2	24245335	Silent	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		24245335	218954038	3	307											
TTC7A	57217	broad.mit.edu	37	2	47222329	47222329	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:47222329C>A	ENST00000319190.5	+	8	1424	c.1056C>A	c.(1054-1056)agC>agA	p.S352R	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.S318R|TTC7A_ENST00000394850.2_Missense_Mutation_p.S352R	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	352					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCCTCATCAGCGAATCCATGG	0.607																																						uc010fbb.3																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1054-1056)agC>agA		Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.							167	125	139					2																	47222329		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47222329C>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1056C>A	2.37:g.47222329C>A	ENSP00000316699:p.Ser352Arg		Somatic				TTC7A_uc002rvm.3_Missense_Mutation_p.S318R|TTC7A_uc002rvn.1_Missense_Mutation_p.S233R|TTC7A_uc002rvo.3_Missense_Mutation_p.S352R|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.S233R|TTC7A_uc002rvq.3_Missense_Mutation_p.S92R|TTC7A_uc002rvr.3_5'UTR	p.S352R	NM_020458	NP_065191	WXS	Illumina GAIIx	Phase_I	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		7	1424	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	352					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1056C>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774120	0.69992	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.36699	1.68;1.68;1.24	4.67	-2.98	0.05513	.	0.052522	0.85682	D	0.000000	T	0.51363	0.1670	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.69078	0.992;0.995;0.989;0.99;0.997	P;D;P;P;D	0.72075	0.862;0.947;0.754;0.737;0.976	T	0.53774	-0.8391	10	0.62326	D	0.03	-7.7181	11.4861	0.50354	0.0:0.2545:0.0:0.7455	.	352;318;352;180;318	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	R	318;352;352;179	ENSP00000386307:S318R;ENSP00000316699:S352R;ENSP00000378320:S352R	ENSP00000316699:S352R	S	+	3	2	TTC7A	47075833	0.835000	0.29415	0.989000	0.46669	0.998000	0.95712	-0.461000	0.06712	-0.460000	0.07003	0.655000	0.94253	AGC		0.607	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		3	55	0	0	0	1	0	3	55					A	47222329	C	A	47222329	3	1	13	1	0	0	0	0	1	0	0	0	16709	767	27	4	1086	4	TTC7A	2	47222329	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08	22976994	47222329	195977044	4	308											
LRP1B	53353	broad.mit.edu	37	2	141259265	141259265	+	Silent	SNP	G	G	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:141259265G>T	ENST00000389484.3	-	55	9812	c.8841C>A	c.(8839-8841)gtC>gtA	p.V2947V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2947	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CCTTATAACTGACCGGAAGGT	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0		p.P2946P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8839-8841)gtC>gtA		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							107	110	109					2																	141259265		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259265G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8841C>A	2.37:g.141259265G>T		TSP Lung(27;0.18)	Somatic					p.V2947V	NM_018557	NP_061027	WXS	Illumina GAIIx	Phase_I	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)	54	9813	-		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)	2947			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8841C>A	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	22	0	0	0	1	0	3	22					T	141259265	G	T	141259265	2	4	13	1	0	0	0	0	0	0	0	1	8955	1277	45	4		4	LRP1B	2	141259265	Silent	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	94036936	141259265	101940108	5	309											
RRP9	9136	broad.mit.edu	37	3	51969488	51969488	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr3:51969488C>T	ENST00000232888.6	-	10	914	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	281					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCCTGGTGTCCGAAGCTAGAG	0.627																																						uc003dbw.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21						c.(841-843)Gga>Aga		Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.							81	65	71					3																	51969488		2203	4300	6503	SO:0001583	missense	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51969488C>T	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.841G>A	3.37:g.51969488C>T	ENSP00000232888:p.Gly281Arg		Somatic					p.G281R	NM_004704	NP_004695	WXS	Illumina GAIIx	Phase_I	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	9	880	-			281					B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	c.841G>A	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287645	0.59976	.	.	ENSG00000114767	ENST00000232888	T	0.70749	-0.51	4.36	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92434	0.5956	10	0.87932	D	0	-40.9732	16.7078	0.85377	0.0:1.0:0.0:0.0	.	281	O43818	U3IP2_HUMAN	R	281	ENSP00000232888:G281R	ENSP00000232888:G281R	G	-	1	0	RRP9	51944528	1.000000	0.71417	0.975000	0.42487	0.009000	0.06853	7.083000	0.76859	2.278000	0.76064	0.561000	0.74099	GGA		0.627	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		11	33	0	0	0	1	0	11	33					T	51969488	C	T	51969488	3	4	13	1	0	0	0	0	1	0	0	0	13691	661	23	1	610	1	RRP9	3	51969488	Missense_Mutation	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		51969488	146052942	6	310											
NDST3	9348	broad.mit.edu	37	4	118975673	118975673	+	Missense_Mutation	SNP	G	G	T	rs377531754		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr4:118975673G>T	ENST00000296499.5	+	2	1011	c.608G>T	c.(607-609)cGt>cTt	p.R203L	NDST3_ENST00000433996.2_Missense_Mutation_p.R203L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358																																						uc003ibx.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(607-609)cGt>cTt		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.							121	124	123					4																	118975673		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975673G>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.608G>T	4.37:g.118975673G>T	ENSP00000296499:p.Arg203Leu		Somatic				NDST3_uc011cgf.1_Missense_Mutation_p.R203L|NDST3_uc003ibw.3_Missense_Mutation_p.R203L	p.R203L	NM_004784	NP_004775	WXS	Illumina GAIIx	Phase_I	O95803	NDST3_HUMAN			1	1011	+			203			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.608G>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516216	0.27123	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46819	1.21;0.86	5.07	-2.27	0.06846	.	0.268407	0.41712	D	0.000822	T	0.38878	0.1057	L	0.56199	1.76	0.33064	D	0.534513	B;B;P	0.40302	0.042;0.006;0.712	B;B;B	0.38378	0.046;0.038;0.272	T	0.52313	-0.8592	10	0.56958	D	0.05	.	12.0683	0.53601	0.6079:0.0:0.3921:0.0	.	203;203;203	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	203	ENSP00000296499:R203L;ENSP00000396625:R203L	ENSP00000296499:R203L	R	+	2	0	NDST3	119195121	0.000000	0.05858	0.900000	0.35374	0.916000	0.54674	-0.173000	0.09854	-0.434000	0.07275	-0.794000	0.03295	CGT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		3	40	0	0	0	1	0	3	40					T	118975673	G	T	118975673	3	4	13	1	0	0	0	0	1	0	0	0	10257	1145	40	4	610	4	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		118975673	72178603	7	311											
CYB5R4	51167	broad.mit.edu	37	6	84618797	84618797	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr6:84618797G>A	ENST00000369681.5	+	4	540	c.400G>A	c.(400-402)Gct>Act	p.A134T	CYB5R4_ENST00000369679.4_Missense_Mutation_p.A100T	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	134					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CATTAAACCTGCTGTTCTGAA	0.393																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(400-402)Gct>Act		Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.							130	116	121					6																	84618797		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	g.chr6:84618797G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.400G>A	6.37:g.84618797G>A	ENSP00000358695:p.Ala134Thr		Somatic					p.A134T	NM_016230	NP_057314	WXS	Illumina GAIIx	Phase_I	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	3	532	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	134					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.400G>A	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873357	0.17322	.	.	ENSG00000065615	ENST00000369681;ENST00000369679	D;D	0.84370	-1.84;-1.7	5.83	-6.32	0.01995	.	1.213010	0.05427	N	0.545185	T	0.41604	0.1166	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41197	-0.9522	10	0.22706	T	0.39	.	10.374	0.44071	0.6443:0.1051:0.2505:0.0	.	134	Q7L1T6	NB5R4_HUMAN	T	134;100	ENSP00000358695:A134T;ENSP00000358693:A100T	ENSP00000358693:A100T	A	+	1	0	CYB5R4	84675516	0.028000	0.19301	0.000000	0.03702	0.000000	0.00434	0.085000	0.14912	-2.064000	0.00888	-0.751000	0.03497	GCT		0.393	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		11	26	0	0	0	1	0	11	26					A	84618797	G	A	84618797	3	1	13	1	0	0	0	0	1	0	0	0	4129	1319	46	2	414	2	CYB5R4	6	84618797	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		84618797	86496270	8	312											
TG	7038	broad.mit.edu	37	8	133899654	133899654	+	Silent	SNP	C	C	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr8:133899654C>T	ENST00000220616.4	+	9	2077	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	TG_ENST00000377869.1_Silent_p.G679G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	679	Thyroglobulin type-1 6. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		AGCCTGCTGGCTCCACCTTGT	0.557																																						uc003ytw.3																			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.(2035-2037)ggC>ggT		Homo sapiens thyroglobulin (TG), mRNA.							65	61	62					8																	133899654		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899654C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2037C>T	8.37:g.133899654C>T			Somatic					p.G679G	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	2078	+	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)	679			Thyroglobulin type-1 6.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2037C>T	CCDS34944.1																																																																																				0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	52	0	0	0	1	0	10	52					T	133899654	C	T	133899654	2	4	13	1	0	0	0	0	0	0	0	1	15810	784	28	2		2	TG	8	133899654	Silent	SNP	C	TCGA-BJ-A18Y-01A-11D-A13W-08		133899654	12464368	9	313											
ANGPTL2	23452	broad.mit.edu	37	9	129870595	129870595	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr9:129870595A>T	ENST00000373425.3	-	2	1033	c.416T>A	c.(415-417)aTg>aAg	p.M139K	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	139					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAGGAGCTGCATGTAGAGCTG	0.617																																						uc004bqr.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(415-417)aTg>aAg		Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.							56	49	52					9																	129870595		2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870595A>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.416T>A	9.37:g.129870595A>T	ENSP00000362524:p.Met139Lys		Somatic				RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	p.M139K	NM_012098	NP_036230	WXS	Illumina GAIIx	Phase_I	Q9UKU9	ANGL2_HUMAN			1	916	-			139					Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.416T>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645315	0.87859	.	.	ENSG00000136859	ENST00000373425	T	0.35973	1.28	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	M	0.73962	2.25	0.80722	D	1	D	0.56521	0.976	P	0.60173	0.87	T	0.57306	-0.7834	10	0.39692	T	0.17	.	15.1095	0.72343	1.0:0.0:0.0:0.0	.	139	Q9UKU9	ANGL2_HUMAN	K	139	ENSP00000362524:M139K	ENSP00000362524:M139K	M	-	2	0	ANGPTL2	128910416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	1.981000	0.57761	0.533000	0.62120	ATG		0.617	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		4	56	0	0	0	1	0	4	56					T	129870595	A	T	129870595	3	4	13	1	0	0	0	0	1	0	0	0	614	217	8	5	1081	5	ANGPTL2	9	129870595	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		129870595	11342836	10	314											
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61K	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	369	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		49	116	0	0	0	1	0	49	116					T	533875	G	T	533875	3	4	13	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08		533875	134472641	11	315											
SLC22A6	9356	broad.mit.edu	37	11	62747391	62747391	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:62747391A>C	ENST00000377871.3	-	7	1333	c.1067T>G	c.(1066-1068)cTg>cGg	p.L356R	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L356R|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L356R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	356					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTCCATGACCAGCCCATAGTA	0.502																																						uc001nwk.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1066-1068)cTg>cGg		Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.							58	55	56					11																	62747391		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62747391A>C	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1067T>G	11.37:g.62747391A>C	ENSP00000367102:p.Leu356Arg		Somatic				SLC22A6_uc001nwl.3_Missense_Mutation_p.L356R|SLC22A6_uc001nwj.3_Missense_Mutation_p.L356R|SLC22A6_uc001nwm.3_Missense_Mutation_p.L356R	p.L356R	NM_004790	NP_004781	WXS	Illumina GAIIx	Phase_I	Q4U2R8	S22A6_HUMAN			6	1400	-			356					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1067T>G	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055786	0.76074	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	D	0.85102	0.5620	H	0.97265	3.97	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.993;0.997;0.995	D	0.89240	0.3583	10	0.87932	D	0	.	11.6251	0.51139	1.0:0.0:0.0:0.0	.	356;356;356;356	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	R	356;335;356;356;356	ENSP00000353597:L356R;ENSP00000367102:L356R;ENSP00000396401:L356R;ENSP00000404441:L356R	ENSP00000353597:L356R	L	-	2	0	SLC22A6	62503967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.540000	0.90641	1.829000	0.53265	0.459000	0.35465	CTG		0.502	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		5	117	0	0	0	1	0	5	117					C	62747391	A	C	62747391	3	2	13	1	0	0	0	0	1	0	0	0	14458	188	7	5	640	5	SLC22A6	11	62747391	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08	62213516	62747391	72259125	12	316											
UBTFL1	0	broad.mit.edu	37	11	89819843	89819843	+	IGR	SNP	G	G	A			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:89819843G>A								TRIM49C (13285 upstream) : SNORD56 (31715 downstream)																							GTAAAGAGATGCAACATTTGT	0.483																																						uc010rub.2																			0											c.(724-726)atG>atA		Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.							12	9	10					11																	89819843		558	1389	1947	SO:0001628	intergenic_variant	642623				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr11:89819843G>A																													11.37:g.89819843G>A			Somatic					p.M242I	NM_001143975	NP_001137447	WXS	Illumina GAIIx	Phase_I	P0CB47	UBFL1_HUMAN			0	726	+			242						Missense_Mutation	SNP		37	c.726G>A																																																																																				0	0.483									5	58	0	0	0	1	0	5	58					A	89819843	G	A	89819843	1	1	13	0	1	0	0	0	0	0	0	0	16907	1319	46	2		2	UBTFL1	11	89819843	IGR	SNP	G	TCGA-BJ-A18Y-01A-11D-A13W-08	27072452	89819843	45186673	13	317											
DENND5B	160518	broad.mit.edu	37	12	31605085	31605085	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr12:31605085A>C	ENST00000389082.5	-	5	1682	c.1418T>G	c.(1417-1419)cTc>cGc	p.L473R	DENND5B_ENST00000354285.4_Missense_Mutation_p.L495R|DENND5B_ENST00000536562.1_Missense_Mutation_p.L508R|DENND5B_ENST00000306833.6_Missense_Mutation_p.L508R|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	473					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAAGCAGAGAGGTCCATTTT	0.468																																						uc001rkh.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1522-1524)cTc>cGc		Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.							162	164	163					12																	31605085		1948	4141	6089	SO:0001583	missense	160518					integral to membrane		g.chr12:31605085A>C	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1418T>G	12.37:g.31605085A>C	ENSP00000373734:p.Leu473Arg		Somatic				DENND5B_uc001rki.1_Missense_Mutation_p.L473R|DENND5B_uc001rkj.3_Missense_Mutation_p.L495R|DENND5B_uc001rkk.1_Missense_Mutation_p.L395R	p.L508R	NM_144973	NP_659410	WXS	Illumina GAIIx	Phase_I	Q6ZUT9	DEN5B_HUMAN			6	1674	-			473			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1523T>G	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.709651	0.30322	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	4.53	4.53	0.55603	.	0.666536	0.14147	N	0.338284	T	0.48554	0.1506	L	0.44542	1.39	0.40243	D	0.977986	P;P;B;B	0.40638	0.725;0.725;0.158;0.451	P;B;B;B	0.45998	0.5;0.382;0.078;0.212	T	0.41342	-0.9514	10	0.32370	T	0.25	-17.9575	14.0426	0.64687	1.0:0.0:0.0:0.0	.	395;495;473;508	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	R	473;508;508;495;425	ENSP00000373734:L473R;ENSP00000306482:L508R;ENSP00000444889:L508R;ENSP00000346238:L495R;ENSP00000442938:L425R	ENSP00000306482:L508R	L	-	2	0	DENND5B	31496352	1.000000	0.71417	0.733000	0.30861	0.693000	0.40251	4.943000	0.63554	1.891000	0.54761	0.460000	0.39030	CTC		0.468	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		9	234	0	0	0	1	0	9	234					C	31605085	A	C	31605085	3	2	13	1	0	0	0	0	1	0	0	0	4437	304	11	5	2474	5	DENND5B	12	31605085	Missense_Mutation	SNP	A	TCGA-BJ-A18Y-01A-11D-A13W-08		31605085	102246810	14	318											
LPPR3	79948	broad.mit.edu	37	19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-	rs189344455		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:813360_813362delTCC	ENST00000520876.3	-	8	1443_1445	c.1365_1367delGGA	c.(1363-1368)gaggaa>gaa	p.455_456EE>E	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_In_Frame_Del_p.483_484EE>E	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		455	Glu-rich.					integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										ctcctcctcttcctcctcctcct	0.759																																						uc002lpw.1																			0											c.(1447-1452)gaggaa>gaa		Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.				10,2858		2,6,1426						-3.4	0.3			2	12,5844		3,6,2919	no	coding	LPPR3	NM_024888.1		5,12,4345	A1A1,A1R,RR		0.2049,0.3487,0.2522				22,8702				SO:0001651	inframe_deletion	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:813360_813362delTCC																												ENST00000520876.3:c.1365_1367delGGA	19.37:g.813369_813371delTCC	ENSP00000430297:p.Glu459del		Somatic				LPPR3_uc021ulz.1_In_Frame_Del_p.91_92EE>E|LPPR3_uc002lpx.1_In_Frame_Del_p.455_456EE>E|LPPR3_uc002lpy.1_In_Frame_Del_p.236_237EE>E|MIR3187_uc021uma.1_5'Flank	p.483_484EE>E	NM_024888	NP_079164	WXS	Illumina GAIIx	Phase_I	Q6T4P5	LPPR3_HUMAN			6	1513_1515	-			455					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	In_Frame_Del	DEL	ENST00000520876.3	37	c.1449_1451delGGA	CCDS58636.1																																																																																				0.759	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			2	4						2	4	---	---	---	---	-	813362	TCC	-	813360	7	5	13	1	0	1	0	1	0	0	0	0	8926	1783	62	0	793	0	LPPR3	19	813360	In_Frame_Del	DEL	TCC	TCGA-BJ-A18Y-01A-11D-A13W-08		813360	58315623	15	319											
TPRX1	284355	broad.mit.edu	37	19	48306192	48306193	+	Frame_Shift_Ins	INS	-	-	C	rs369852848	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:48306192_48306193insC	ENST00000322175.3	-	2	230_231	c.75_76insG	c.(73-78)cggctcfs	p.L26fs	TPRX1_ENST00000543508.1_Frame_Shift_Ins_p.L26fs|TPRX1_ENST00000535759.1_Frame_Shift_Ins_p.L123fs	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	26						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TGCTGCTGGAGCCGCCGCTCCC	0.723																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(73-78)cggctcfs		Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.																																				SO:0001589	frameshift_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48306192_48306193insC		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.76dupG	19.37:g.48306194_48306194dupC	ENSP00000323455:p.Leu26fs		Somatic					p.R25fs	NM_198479	NP_940881	WXS	Illumina GAIIx	Phase_I	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	1	215_216	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	25					A5D8Y3|B2RPL5	Frame_Shift_Ins	INS	ENST00000322175.3	37	c.75_76insG	CCDS33066.1																																																																																				0.723	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		2	4						2	4	---	---	---	---	C	48306193	-	C	48306192	7	5	13	1	0	1	1	0	0	0	0	0	16419	971	34	0	1163	0	TPRX1	19	48306192	Frame_Shift_Ins	INS	-	TCGA-BJ-A18Y-01A-11D-A13W-08	47492832	48306192	10822791	16	320											
HFM1	164045	broad.mit.edu	37	1	91733329	91733329	+	Missense_Mutation	SNP	T	T	C	rs538274561	byFrequency	TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:91733329T>C	ENST00000370425.3	-	35	3954	c.3856A>G	c.(3856-3858)Act>Gct	p.T1286A	HFM1_ENST00000370424.3_Missense_Mutation_p.T965A|HFM1_ENST00000294696.5_Missense_Mutation_p.T518A|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1286					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTATCAGTTGAAAAGCTA	0.303																																						uc001doa.4																			0		p.S1285L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3856-3858)Act>Gct		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							88	91	90					1																	91733329		2203	4292	6495	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91733329T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3856A>G	1.37:g.91733329T>C	ENSP00000359454:p.Thr1286Ala		Somatic				HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.T965A|HFM1_uc001dob.4_Missense_Mutation_p.T474A|HFM1_uc010osv.1_Missense_Mutation_p.T970A	p.T1286A	NM_001017975	NP_001017975	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	34	3955	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3856A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	0.568	-0.842270	0.02671	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424	T;T;T	0.63580	0.35;0.71;-0.05	5.09	-7.74	0.01241	.	0.970645	0.08416	N	0.949133	T	0.04003	0.0112	N	0.00483	-1.445	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	0.08806	-1.0704	10	0.02654	T	1	.	1.4872	0.02449	0.2046:0.2885:0.1012:0.4056	.	965;497;1286	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	A	1286;518;965	ENSP00000359454:T1286A;ENSP00000294696:T518A;ENSP00000359453:T965A	ENSP00000294696:T518A	T	-	1	0	HFM1	91505917	0.000000	0.05858	0.032000	0.17829	0.973000	0.67179	-0.951000	0.03885	-1.380000	0.02115	-0.323000	0.08544	ACT		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		3	36	0	0	0	1	0	3	36					C	91733329	T	C	91733329	3	2	14	1	0	0	0	0	1	0	0	0	7083	1725	60	3	471	3	HFM1	1	91733329	Missense_Mutation	SNP	T	TCGA-BJ-A18Z-01A-21D-A13W-08		91733329	157517292	1	321											
OR14C36	127066	broad.mit.edu	37	1	248512212	248512212	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr1:248512212G>A	ENST00000317861.1	+	1	136	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	46						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)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CATTGTGACCGTCACCACCTG	0.438																																						uc010pzl.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(136-138)Gtc>Atc		Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.							254	220	232					1																	248512212		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512212G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"GPCR / Class A : Olfactory receptors"	15026	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BF, member 1"	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.136G>A	1.37:g.248512212G>A	ENSP00000324534:p.Val46Ile		Somatic					p.V46I	NM_001001918	NP_001001918	WXS	Illumina GAIIx	Phase_I	Q8NHC7	O14CZ_HUMAN			0	136	+			46					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.136G>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593320	0.13875	.	.	ENSG00000177174	ENST00000317861	T	0.03035	4.07	4.05	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.416770	0.17250	N	0.181220	T	0.01489	0.0048	N	0.16066	0.365	0.09310	N	1	P	0.40266	0.71	B	0.28385	0.089	T	0.32402	-0.9908	10	0.02654	T	1	.	6.5902	0.22642	0.0943:0.0:0.7279:0.1779	.	46	Q8NHC7	O14CZ_HUMAN	I	46	ENSP00000324534:V46I	ENSP00000324534:V46I	V	+	1	0	OR14C36	246578835	0.000000	0.05858	0.012000	0.15200	0.344000	0.29017	-1.205000	0.03014	0.945000	0.37605	0.395000	0.25975	GTC		0.438	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		11	131	0	0	0	1	0	11	131					A	248512212	G	A	248512212	3	1	14	1	0	0	0	0	1	0	0	0	10946	1145	40	1	138	1	OR14C36	1	248512212	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	156778883	248512212	738409	2	322											
ARHGEF4	50649	broad.mit.edu	37	2	131704157	131704157	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:131704157G>A	ENST00000326016.5	+	4	895	c.376G>A	c.(376-378)Gct>Act	p.A126T	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A126T|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.A126T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A126T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A126T|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.A982T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	126	ABR (APC-binding region) domain.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTCCCAGAGTGCTCCAACGGG	0.532																																						uc010fmw.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(2314-2316)Gct>Act		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.							116	115	115					2																	131704157		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding	g.chr2:131704157G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.376G>A	2.37:g.131704157G>A	ENSP00000316845:p.Ala126Thr		Somatic				ARHGEF4_uc002tsa.1_Missense_Mutation_p.A126T|ARHGEF4_uc002tsb.1_Missense_Mutation_p.A126T|ARHGEF4_uc010fmx.1_Missense_Mutation_p.A126T|ARHGEF4_uc002trz.1_Missense_Mutation_p.A772T	p.A772T			WXS	Illumina GAIIx	Phase_I	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	2	2668	+		Prostate(154;0.055)	126					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.2314G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	3.397	-0.123032	0.06795	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.73047	0.42;-0.52;-0.67;0.61;0.61;-0.67;-0.71	4.49	3.6	0.41247	.	0.420409	0.16203	N	0.224821	T	0.64159	0.2573	L	0.29908	0.895	0.31264	N	0.692569	B;P;B;B	0.50943	0.001;0.94;0.035;0.004	B;P;B;B	0.56434	0.006;0.798;0.009;0.006	T	0.59836	-0.7379	10	0.02654	T	1	.	8.437	0.32793	0.1071:0.0:0.8929:0.0	.	126;982;126;126	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	T	982;126;126;306;126;126;126	ENSP00000386794:A982T;ENSP00000316845:A126T;ENSP00000376680:A126T;ENSP00000389661:A306T;ENSP00000398455:A126T;ENSP00000432267:A126T;ENSP00000387285:A126T	ENSP00000316845:A126T	A	+	1	0	ARHGEF4	131420627	0.992000	0.36948	0.997000	0.53966	0.161000	0.22273	1.254000	0.32897	1.241000	0.43820	0.655000	0.94253	GCT		0.532	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			6	120	0	0	0	1	0	6	120					A	131704157	G	A	131704157	3	1	14	1	0	0	0	0	1	0	0	0	908	1319	46	2	382	2	ARHGEF4	2	131704157	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		131704157	111495216	3	323											
AOX1	316	broad.mit.edu	37	2	201467063	201467063	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr2:201467063T>C	ENST00000374700.2	+	6	734	c.493T>C	c.(493-495)Tgt>Cgt	p.C165R		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	165					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)	CAAGACTTTCTGTAAAGTAAG	0.448																																						uc002uvx.3																			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.(493-495)Tgt>Cgt		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						192	174	180					2																	201467063		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	g.chr2:201467063T>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.493T>C	2.37:g.201467063T>C	ENSP00000363832:p.Cys165Arg		Somatic					p.C165R	NM_001159	NP_001150	WXS	Illumina GAIIx	Phase_I	Q06278	ADO_HUMAN			5	594	+			165					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.493T>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547602	0.65311	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.53640	0.61;0.61	5.65	5.65	0.86999	[2Fe-2S]-binding (2);	0.049569	0.85682	D	0.000000	T	0.67468	0.2896	M	0.87547	2.89	0.80722	D	1	D	0.54601	0.967	P	0.54460	0.753	T	0.74500	-0.3645	10	0.72032	D	0.01	-15.5629	16.0399	0.80667	0.0:0.0:0.0:1.0	.	165	Q06278	ADO_HUMAN	R	165;140	ENSP00000363832:C165R;ENSP00000392485:C140R	ENSP00000363832:C165R	C	+	1	0	AOX1	201175308	1.000000	0.71417	0.991000	0.47740	0.433000	0.31745	5.488000	0.66869	2.371000	0.80710	0.533000	0.62120	TGT		0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		26	67	0	0	0	1	0	26	67					C	201467063	T	C	201467063	3	2	14	1	0	0	0	0	1	0	0	0	729	1580	55	3	515	3	AOX1	2	201467063	Missense_Mutation	SNP	T	TCGA-BJ-A18Z-01A-21D-A13W-08	69762906	201467063	41732310	4	324											
GSTA2	2939	broad.mit.edu	37	6	52616490	52616490	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr6:52616490C>T	ENST00000493422.1	-	6	586	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	144	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GTAGTCTTGTCCGTGGCTCTT	0.537																																						uc003pay.3																			0		p.G144R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(430-432)gGa>gAa		Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						138	122	127					6																	52616490		2203	4300	6503	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616490C>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.431G>A	6.37:g.52616490C>T	ENSP00000420168:p.Gly144Glu		Somatic					p.G144E	NM_000846	NP_000837	WXS	Illumina GAIIx	Phase_I	P09210	GSTA2_HUMAN			5	581	-	Lung NSC(77;0.118)		144			GST C-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.431G>A	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.080068	0.36662	.	.	ENSG00000244067	ENST00000493422	T	0.13657	2.57	2.88	2.88	0.33553	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.146928	0.44097	N	0.000493	T	0.12475	0.0303	M	0.80332	2.49	0.31349	N	0.682737	B	0.23854	0.092	B	0.36418	0.224	T	0.06180	-1.0841	10	0.66056	D	0.02	.	11.5816	0.50894	0.0:1.0:0.0:0.0	.	144	P09210	GSTA2_HUMAN	E	144	ENSP00000420168:G144E	ENSP00000420168:G144E	G	-	2	0	GSTA2	52724449	0.795000	0.28851	0.977000	0.42913	0.690000	0.40134	3.957000	0.56730	1.629000	0.50426	0.485000	0.47835	GGA		0.537	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		23	115	0	0	0	1	0	23	115					T	52616490	C	T	52616490	3	4	14	1	0	0	0	0	1	0	0	0	6831	855	30	2	245	2	GSTA2	6	52616490	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		52616490	118498577	5	325											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	67	0	0	0	1	0	20	67					T	140453136	A	T	140453136	3	4	14	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		140453136	18685527	6	326											
WNK2	65268	broad.mit.edu	37	9	96069101	96069101	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:96069101G>A	ENST00000297954.4	+	27	6368	c.6368G>A	c.(6367-6369)aGt>aAt	p.S2123N	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.S1698N|WNK2_ENST00000395477.2_Missense_Mutation_p.S2086N|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.S1735N	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2123					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GAACACAGCAGTAGTAATTAT	0.567																																						uc004ati.1																			0		p.V2122A(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6367-6369)aGt>aAt		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							522	529	526					9																	96069101		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96069101G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6368G>A	9.37:g.96069101G>A	ENSP00000297954:p.Ser2123Asn		Somatic				WNK2_uc011lud.1_Missense_Mutation_p.S2086N|WNK2_uc004atj.3_Missense_Mutation_p.S2086N|WNK2_uc004atk.3_Intron	p.S2123N	NM_006648	NP_006639	WXS	Illumina GAIIx	Phase_I	Q9Y3S1	WNK2_HUMAN			26	6368	+			2123					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6368G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.555860|5.555860	0.96514|0.96514	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|.	0.79653|.	-1.29;-1.28;-0.63;-0.58|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.217720|.	0.47852|.	D|.	0.000214|.	T|T	0.68220|0.68220	0.2977|0.2977	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.983;1.0;1.0|.	P;D;D|.	0.74023|.	0.846;0.982;0.96|.	T|T	0.63274|0.63274	-0.6674|-0.6674	10|5	0.62326|.	D|.	0.03|.	.|.	19.3931|19.3931	0.94592|0.94592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2086;2086;2123|.	Q9Y3S1-2;F8W9F9;Q9Y3S1|.	.;.;WNK2_HUMAN|.	N|I	2123;2086;1735;1698|2082;883	ENSP00000297954:S2123N;ENSP00000378860:S2086N;ENSP00000297876:S1735N;ENSP00000411181:S1698N|.	ENSP00000297954:S2123N|.	S|V	+|+	2|1	0|0	WNK2|WNK2	95108922|95108922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.619000|9.619000	0.98369|0.98369	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.567	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		7	200	0	0	0	1	0	7	200					A	96069101	G	A	96069101	3	1	14	1	0	0	0	0	1	0	0	0	17375	1029	36	2	6359	2	WNK2	9	96069101	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		96069101	45144330	7	327											
MUSK	4593	broad.mit.edu	37	9	113563207	113563207	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:113563207C>G	ENST00000374448.4	+	15	2683	c.2549C>G	c.(2548-2550)aCc>aGc	p.T850S	MUSK_ENST00000416899.2_Missense_Mutation_p.T842S|MUSK_ENST00000189978.5_Missense_Mutation_p.T850S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	850	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CCCAGTTTCACCAGTATTCAC	0.507																																						uc022blv.1																			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.(2548-2550)aCc>aGc		Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.							40	38	39					9																	113563207		2023	4190	6213	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113563207C>G	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2549C>G	9.37:g.113563207C>G	ENSP00000363571:p.Thr850Ser		Somatic				MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.T761S|MUSK_uc022blu.1_Missense_Mutation_p.T751S	p.T850S	NM_005592	NP_005583	WXS	Illumina GAIIx	Phase_I	O15146	MUSK_HUMAN			14	2683	+			850			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2549C>G	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	6.627	0.484152	0.12581	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.81739	-1.53	5.62	3.73	0.42828	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.815827	0.11846	N	0.523771	T	0.55561	0.1928	N	0.01417	-0.88	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45934	-0.9227	10	0.08381	T	0.77	.	15.4013	0.74843	0.0:0.7268:0.2732:0.0	.	850	O15146	MUSK_HUMAN	S	856;850;850;764;764;848	ENSP00000363571:T850S	ENSP00000189978:T856S	T	+	2	0	MUSK	112603028	0.987000	0.35691	0.402000	0.26371	0.953000	0.61014	4.226000	0.58606	0.803000	0.34113	0.557000	0.71058	ACC		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	26	0	0	0	1	0	8	26					G	113563207	C	G	113563207	3	3	14	1	0	0	0	0	1	0	0	0	9989	507	18	4	2639	4	MUSK	9	113563207	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08	17494106	113563207	27650224	8	328											
FAM129B	64855	broad.mit.edu	37	9	130279165	130279165	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr9:130279165G>A	ENST00000373312.3	-	8	1157	c.944C>T	c.(943-945)tCc>tTc	p.S315F	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.S302F	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	315					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTTGGAGGTGATAAT	0.597																																						uc004brh.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(943-945)tCc>tTc		Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.							216	205	209					9																	130279165		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130279165G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.944C>T	9.37:g.130279165G>A	ENSP00000362409:p.Ser315Phe		Somatic				FAM129B_uc004bri.3_Missense_Mutation_p.S302F|FAM129B_uc004brj.4_Missense_Mutation_p.S315F	p.S315F	NM_022833	NP_073744	WXS	Illumina GAIIx	Phase_I	Q96TA1	NIBL1_HUMAN			7	1146	-			315					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.944C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833079	0.71258	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.28895	1.59;1.59	4.87	3.97	0.46021	.	0.180266	0.50627	D	0.000110	T	0.49695	0.1572	M	0.73962	2.25	0.36995	D	0.894964	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.55730	-0.8095	10	0.44086	T	0.13	-43.2424	7.0794	0.25223	0.094:0.1732:0.7328:0.0	.	302;315	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	F	302;315	ENSP00000362411:S302F;ENSP00000362409:S315F	ENSP00000362409:S315F	S	-	2	0	FAM129B	129318986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.172000	0.77604	1.045000	0.40225	0.655000	0.94253	TCC		0.597	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		78	286	0	0	0	1	0	78	286					A	130279165	G	A	130279165	3	1	14	1	0	0	0	0	1	0	0	0	5437	1174	41	2	1324	2	FAM129B	9	130279165	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	16715958	130279165	10934266	9	329											
SGPL1	8879	broad.mit.edu	37	10	72633169	72633169	+	Missense_Mutation	SNP	A	A	G	rs139751906	byFrequency	TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr10:72633169A>G	ENST00000373202.3	+	12	1321	c.1121A>G	c.(1120-1122)tAt>tGt	p.Y374C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	374					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TACAGGAACTATCAGTTCTTC	0.502																																					Colon(151;1054 2458 6676 40971)	uc001jrm.3																			0				large_intestine(4)	4						c.(1120-1122)tAt>tGt		Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	Pyridoxal Phosphate(DB00114)	A	CYS/TYR	0,4406		0,0,2203	154	132	140		1121	4.6	0.7	10	dbSNP_134	140	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SGPL1	NM_003901.3	194	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	possibly-damaging	374/569	72633169	4,13002	2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72633169A>G	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1121A>G	10.37:g.72633169A>G	ENSP00000362298:p.Tyr374Cys		Somatic				SGPL1_uc009xqk.3_Non-coding_Transcript	p.Y374C	NM_003901	NP_003892	WXS	Illumina GAIIx	Phase_I	O95470	SGPL1_HUMAN			11	1343	+			374					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.1121A>G	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204986	0.79127	0.0	4.65E-4	ENSG00000166224	ENST00000373202	T	0.37235	1.21	5.73	4.58	0.56647	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053210	0.85682	D	0.000000	T	0.42966	0.1226	M	0.71581	2.175	0.58432	D	0.999996	B	0.22683	0.073	B	0.34536	0.185	T	0.30031	-0.9992	10	0.41790	T	0.15	-6.6712	12.1512	0.54051	0.8715:0.0:0.0:0.1284	.	374	O95470	SGPL1_HUMAN	C	374	ENSP00000362298:Y374C	ENSP00000362298:Y374C	Y	+	2	0	SGPL1	72303175	1.000000	0.71417	0.729000	0.30791	0.994000	0.84299	5.003000	0.63959	0.962000	0.38057	0.533000	0.62120	TAT		0.502	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		5	136	0	0	0	1	0	5	136					G	72633169	A	G	72633169	3	3	14	1	0	0	0	0	1	0	0	0	14218	449	16	3	1163	3	SGPL1	10	72633169	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		72633169	62901578	10	330											
LGI1	9211	broad.mit.edu	37	10	95556981	95556981	+	Silent	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr10:95556981C>T	ENST00000371418.4	+	8	1355	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.N317N	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	365					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GGAACGGAAACGGATTCTACT	0.408																																						uc001kjc.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1093-1095)aaC>aaT		Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.							88	83	85					10																	95556981		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95556981C>T	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1095C>T	10.37:g.95556981C>T			Somatic				LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Silent_p.N317N|LGI1_uc009xui.3_Non-coding_Transcript	p.N365N	NM_005097	NP_005088	WXS	Illumina GAIIx	Phase_I	O95970	LGI1_HUMAN			7	1431	+		Colorectal(252;0.124)	365					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.1095C>T	CCDS7431.1																																																																																				0.408	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		29	60	0	0	0	1	0	29	60					T	95556981	C	T	95556981	2	4	14	1	0	0	0	0	0	0	0	1	8751	535	19	1		1	LGI1	10	95556981	Silent	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08	22923812	95556981	39977766	11	331											
AMPD3	272	broad.mit.edu	37	11	10518462	10518462	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr11:10518462G>A	ENST00000396554.3	+	10	1902	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	AMPD3_ENST00000444303.2_Missense_Mutation_p.E353K	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	512					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGATCATCGAGAGCTTCACCT	0.512																																						uc001min.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1561-1563)Gag>Aag		Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.							153	140	144					11																	10518462		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10518462G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1561G>A	11.37:g.10518462G>A	ENSP00000379802:p.Glu521Lys		Somatic				AMPD3_uc010rbz.1_Missense_Mutation_p.E353K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.E512K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E519K|AMPD3_uc009yfy.2_Missense_Mutation_p.E512K	p.E521K	NM_000480	NP_001165902	WXS	Illumina GAIIx	Phase_I	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	9	1906	+			512					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1561G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027440	0.35797	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	4.56	4.56	0.56223	Adenosine/AMP deaminase (1);	0.161278	0.53938	D	0.000051	T	0.74168	0.3681	L	0.41632	1.29	0.58432	D	0.999998	B;B;B	0.27068	0.167;0.09;0.167	B;B;B	0.30716	0.119;0.095;0.119	T	0.69522	-0.5123	10	0.13853	T	0.58	-21.9048	17.3255	0.87245	0.0:0.0:1.0:0.0	.	519;512;521	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	K	353;521;512;519;512	ENSP00000396000:E353K;ENSP00000379802:E521K;ENSP00000379801:E512K;ENSP00000436987:E519K;ENSP00000431648:E512K	ENSP00000379801:E512K	E	+	1	0	AMPD3	10475038	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.655000	0.67981	2.095000	0.63458	0.289000	0.19496	GAG		0.512	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		7	159	0	0	0	1	0	7	159					A	10518462	G	A	10518462	3	1	14	1	0	0	0	0	1	0	0	0	587	943	33	2	1619	2	AMPD3	11	10518462	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		10518462	124488054	12	332											
LRP1	4035	broad.mit.edu	37	12	57581169	57581169	+	Missense_Mutation	SNP	G	G	A	rs367854676		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr12:57581169G>A	ENST00000243077.3	+	42	7427	c.6961G>A	c.(6961-6963)Gag>Aag	p.E2321K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2321					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)	AGGGGCCTTCGAGCGTGAGAC	0.607																																						uc001snd.3																			0				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						c.(6961-6963)Gag>Aag		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	G	LYS/GLU	0,4406		0,0,2203	84	76	78		6961	4.4	1.0	12		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2321/4545	57581169	1,13005	2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581169G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6961G>A	12.37:g.57581169G>A	ENSP00000243077:p.Glu2321Lys		Somatic					p.E2321K	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7427	+			2321					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6961G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453874	0.43531	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.90788	-2.73	4.39	4.39	0.52855	Six-bladed beta-propeller, TolB-like (1);	0.155040	0.40818	N	0.001014	D	0.82449	0.5039	L	0.32530	0.975	0.80722	D	1	P	0.36733	0.567	B	0.22753	0.041	T	0.81647	-0.0838	10	0.20046	T	0.44	.	16.2444	0.82434	0.0:0.0:1.0:0.0	.	2321	Q07954	LRP1_HUMAN	K	2321	ENSP00000243077:E2321K	ENSP00000243077:E2321K	E	+	1	0	LRP1	55867436	1.000000	0.71417	0.966000	0.40874	0.905000	0.53344	3.941000	0.56607	2.433000	0.82419	0.655000	0.94253	GAG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	44	0	0	0	1	0	3	44					A	57581169	G	A	57581169	3	1	14	1	0	0	0	0	1	0	0	0	8951	1059	37	1	7127	1	LRP1	12	57581169	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		57581169	76270726	13	333											
OR11G2	390439	broad.mit.edu	37	14	20666455	20666455	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr14:20666455C>T	ENST00000357366.3	+	1	961	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	321						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(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		tgttgttaccccactgcttaa	0.398																																						uc010tlb.2																			0		p.P321Q(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(961-963)Cca>Tca		Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.							117	115	116					14																	20666455		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666455C>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.961C>T	14.37:g.20666455C>T	ENSP00000349930:p.Pro321Ser		Somatic					p.P321S	NM_001005503	NP_001005503	WXS	Illumina GAIIx	Phase_I	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	961	+	all_cancers(95;0.00108)		321					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.961C>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.659499	0.67586	.	.	ENSG00000196832	ENST00000357366	T	0.00330	8.08	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.01287	0.0042	M	0.93328	3.405	0.36360	D	0.860638	D	0.89917	1.0	D	0.97110	1.0	T	0.50136	-0.8863	10	0.72032	D	0.01	.	17.1038	0.86656	0.0:1.0:0.0:0.0	.	321	Q8NGC1	O11G2_HUMAN	S	321	ENSP00000349930:P321S	ENSP00000349930:P321S	P	+	1	0	OR11G2	19736295	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	4.404000	0.59735	2.569000	0.86673	0.655000	0.94253	CCA		0.398	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			35	102	0	0	0	1	0	35	102					T	20666455	C	T	20666455	3	4	14	1	0	0	0	0	1	0	0	0	10925	623	22	2	963	2	OR11G2	14	20666455	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		20666455	86683085	14	334											
MEGF11	84465	broad.mit.edu	37	15	66207904	66207904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr15:66207904G>A	ENST00000409699.2	-	19	2549	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*	MEGF11_ENST00000422354.1_Nonsense_Mutation_p.Q793*|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Silent_p.V869V|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.Q718*|MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.Q718*			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	793	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CATAGCTGCTGACACCCATAG	0.537																																						uc002apm.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2377-2379)Cag>Tag		Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.							162	102	122					15																	66207904		2201	4299	6500	SO:0001587	stop_gained	84465					basolateral plasma membrane|integral to membrane		g.chr15:66207904G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2377C>T	15.37:g.66207904G>A	ENSP00000386908:p.Gln793*		Somatic				MEGF11_uc002apl.2_Nonsense_Mutation_p.Q718*|MEGF11_uc002apn.1_Nonsense_Mutation_p.Q793*	p.Q793*	NM_032445	NP_115821	WXS	Illumina GAIIx	Phase_I	A6BM72	MEG11_HUMAN			18	2518	-			793			EGF-like 14.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Nonsense_Mutation	SNP	ENST00000409699.2	37	c.2377C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	42	9.208064	0.99101	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	.	.	.	4.48	4.48	0.54585	.	0.186077	0.25807	U	0.028175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	13.3803	0.60762	0.0:0.0:0.8322:0.1678	.	.	.	.	X	793;718;793;718	.	ENSP00000288745:Q718X	Q	-	1	0	MEGF11	63994958	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.090000	0.71397	2.309000	0.77851	0.561000	0.74099	CAG		0.537	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		5	24	0	0	0	1	0	5	24					A	66207904	G	A	66207904	4	1	14	1	0	0	0	0	0	1	0	0	9461	1299	45	2	777	2	MEGF11	15	66207904	Nonsense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08		66207904	36323488	15	335											
ADCY9	115	broad.mit.edu	37	16	4164528	4164528	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr16:4164528A>C	ENST00000294016.3	-	2	1454	c.916T>G	c.(916-918)Tcc>Gcc	p.S306A		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	306					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						GTGCTCCTGGACCTCACCTGG	0.612																																						uc002cvx.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.(916-918)Tcc>Gcc		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							86	83	84					16																	4164528		2197	4300	6497	SO:0001583	missense	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	ATP binding|adenylate cyclase activity|metal ion binding	g.chr16:4164528A>C	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.916T>G	16.37:g.4164528A>C	ENSP00000294016:p.Ser306Ala		Somatic					p.S306A	NM_001116	NP_001107	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			1	1455	-			306					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.916T>G	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412208	0.42817	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.57	5.57	0.84162	.	0.061325	0.64402	N	0.000002	D	0.88070	0.6338	M	0.68317	2.08	0.52501	D	0.999959	D	0.69078	0.997	P	0.62813	0.907	D	0.85306	0.1076	10	0.15066	T	0.55	.	15.7744	0.78198	1.0:0.0:0.0:0.0	.	306	O60503	ADCY9_HUMAN	A	306	ENSP00000294016:S306A	ENSP00000294016:S306A	S	-	1	0	ADCY9	4104529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.144000	0.66660	0.454000	0.30748	TCC		0.612	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			14	84	0	0	0	1	0	14	84					C	4164528	A	C	4164528	3	2	14	1	0	0	0	0	1	0	0	0	301	275	10	5	3185	5	ADCY9	16	4164528	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		4164528	86190225	16	336											
BECN1	8678	broad.mit.edu	37	17	40967972	40967972	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:40967972C>A	ENST00000361523.4	-	8	916	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	BECN1_ENST00000590099.1_Missense_Mutation_p.D262Y|BECN1_ENST00000438274.3_Missense_Mutation_p.D186Y	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	262					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTCAGCTTATCCAGCTGCGTC	0.458																																						uc002ibo.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(784-786)Gat>Tat		Homo sapiens beclin 1, autophagy related (BECN1), mRNA.							255	217	230					17																	40967972		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967972C>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.784G>T	17.37:g.40967972C>A	ENSP00000355231:p.Asp262Tyr		Somatic				BECN1_uc010whb.1_Missense_Mutation_p.D175Y|BECN1_uc010whc.1_Missense_Mutation_p.D186Y|BECN1_uc002ibn.2_Missense_Mutation_p.D262Y	p.D262Y	NM_003766	NP_003757	WXS	Illumina GAIIx	Phase_I	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	7	919	-		Breast(137;0.00104)	262					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.784G>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958155	0.92726	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.50548	0.74;2.43	5.95	5.95	0.96441	.	0.109071	0.64402	D	0.000005	T	0.74913	0.3779	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.972;0.99	T	0.76602	-0.2899	10	0.56958	D	0.05	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	186;262	E7EV84;Q14457	.;BECN1_HUMAN	Y	262;186;175	ENSP00000355231:D262Y;ENSP00000416173:D186Y	ENSP00000355231:D262Y	D	-	1	0	BECN1	38221498	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.390000	0.79816	2.824000	0.97209	0.655000	0.94253	GAT		0.458	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		8	168	0	0	0	1	0	8	168					A	40967972	C	A	40967972	3	1	14	1	0	0	0	0	1	0	0	0	1396	855	30	4	588	4	BECN1	17	40967972	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		40967972	40227238	17	337											
MAP3K3	4215	broad.mit.edu	37	17	61759173	61759173	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:61759173G>A	ENST00000361733.3	+	7	870	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MAP3K3_ENST00000361357.3_Missense_Mutation_p.E215K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E215K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.E184K	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	184					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTATGTTCCTGAGCGGCAGCA	0.602																																						uc002jbe.3																			0		p.L214L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(643-645)Gag>Aag		Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.							93	89	90					17																	61759173		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61759173G>A	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.550G>A	17.37:g.61759173G>A	ENSP00000354485:p.Glu184Lys		Somatic				MAP3K3_uc002jbf.3_Missense_Mutation_p.E215K|MAP3K3_uc002jbg.3_Missense_Mutation_p.E184K|MAP3K3_uc002jbh.3_Missense_Mutation_p.E215K|MAP3K3_uc010wpo.2_Missense_Mutation_p.E99K|MAP3K3_uc010wpp.2_Missense_Mutation_p.E184K	p.E215K	NM_203351	NP_976226	WXS	Illumina GAIIx	Phase_I	Q99759	M3K3_HUMAN			8	709	+			184					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.643G>A	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.866375	0.97043	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.69806	-0.43;-0.41	5.58	5.58	0.84498	.	0.048306	0.85682	D	0.000000	T	0.77644	0.4161	M	0.72894	2.215	0.80722	D	1	P;P;P;P	0.48911	0.864;0.864;0.864;0.917	P;P;P;P	0.52909	0.52;0.52;0.52;0.713	T	0.78565	-0.2155	10	0.59425	D	0.04	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	184;152;184;215	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	K	215;184	ENSP00000354927:E215K;ENSP00000354485:E184K	ENSP00000354927:E215K	E	+	1	0	MAP3K3	59112905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.772000	0.98984	2.797000	0.96272	0.561000	0.74099	GAG		0.602	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		14	110	0	0	0	1	0	14	110					A	61759173	G	A	61759173	3	1	14	1	0	0	0	0	1	0	0	0	9251	1291	45	2	673	2	MAP3K3	17	61759173	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	20791201	61759173	19436037	18	338											
CASKIN2	57513	broad.mit.edu	37	17	73501926	73501926	+	Missense_Mutation	SNP	G	G	A	rs374893748		TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr17:73501926G>A	ENST00000321617.3	-	9	1397	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	CASKIN2_ENST00000581870.1_Missense_Mutation_p.R271W|CASKIN2_ENST00000433559.2_Missense_Mutation_p.R189W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	271						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGATTTCCCGGCTGGCCTGG	0.622																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(811-813)Cgg>Tgg		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	89	78	82		565,811	4.5	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/1121,271/1203	73501926	1,13005	2203	4300	6503	SO:0001583	missense	57513					cytoplasm		g.chr17:73501926G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.811C>T	17.37:g.73501926G>A	ENSP00000325355:p.Arg271Trp		Somatic				CASKIN2_uc010wsc.2_Missense_Mutation_p.R189W|CASKIN2_uc002jod.3_Missense_Mutation_p.R271W	p.R271W	NM_020753	NP_001136115	WXS	Illumina GAIIx	Phase_I	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1361	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		271					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.811C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638331	0.87760	0.0	1.16E-4	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.14391	2.51;2.51	5.53	4.54	0.55810	Ankyrin repeat-containing domain (2);	0.000000	0.42172	D	0.000756	T	0.21841	0.0526	L	0.27053	0.805	0.43317	D	0.995336	D;D	0.89917	0.994;1.0	P;D	0.63283	0.715;0.913	T	0.01635	-1.1307	10	0.72032	D	0.01	.	12.6739	0.56882	0.0:0.0:0.5454:0.4546	.	189;271	Q8WXE0-2;Q8WXE0	.;CSKI2_HUMAN	W	271;189	ENSP00000325355:R271W;ENSP00000406963:R189W	ENSP00000325355:R271W	R	-	1	2	CASKIN2	71013521	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.655000	0.61476	1.291000	0.44653	0.655000	0.94253	CGG		0.622	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	37	0	0	0	1	0	3	37					A	73501926	G	A	73501926	3	1	14	1	0	0	0	0	1	0	0	0	2667	1115	39	1	2845	1	CASKIN2	17	73501926	Missense_Mutation	SNP	G	TCGA-BJ-A18Z-01A-21D-A13W-08	11742753	73501926	7693284	19	339											
KCNK6	9424	broad.mit.edu	37	19	38810844	38810844	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:38810844A>G	ENST00000263372.3	+	1	361	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	85					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGGTCCGCCAACGCCTCGGAC	0.706																																						uc002oic.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(253-255)aAc>aGc		Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	Ibutilide(DB00308)|Quinidine(DB00908)						19	23	22					19																	38810844		2199	4298	6497	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38810844A>G	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.254A>G	19.37:g.38810844A>G	ENSP00000263372:p.Asn85Ser		Somatic					p.N85S	NM_004823	NP_004814	WXS	Illumina GAIIx	Phase_I	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		0	361	+	all_cancers(60;5.83e-07)		85					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.254A>G	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874261	0.72180	.	.	ENSG00000099337	ENST00000263372	T	0.23950	1.88	4.57	3.49	0.39957	.	0.656803	0.14927	N	0.290281	T	0.30198	0.0757	L	0.46157	1.445	0.31297	N	0.688711	P	0.50272	0.933	P	0.53102	0.718	T	0.10894	-1.0610	10	0.25751	T	0.34	.	7.3862	0.26884	0.8858:0.0:0.1142:0.0	.	85	Q9Y257	KCNK6_HUMAN	S	85	ENSP00000263372:N85S	ENSP00000263372:N85S	N	+	2	0	KCNK6	43502684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.116000	0.50399	1.938000	0.56188	0.454000	0.30748	AAC		0.706	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		4	29	0	0	0	1	0	4	29					G	38810844	A	G	38810844	3	3	14	1	0	0	0	0	1	0	0	0	8070	43	2	3	256	3	KCNK6	19	38810844	Missense_Mutation	SNP	A	TCGA-BJ-A18Z-01A-21D-A13W-08		38810844	20318139	20	340											
LMTK3	114783	broad.mit.edu	37	19	49001922	49001922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chr19:49001922delA	ENST00000600059.1	-	11	2631	c.2404delT	c.(2404-2406)tccfs	p.S802fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.S831fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	802	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCTCTGGGGAAAAAGGGGTC	0.766																																						uc002pjk.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(2491-2493)tccfs		Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.							2	2	2					19																	49001922		950	2390	3340	SO:0001589	frameshift_variant	114783							g.chr19:49001922delA	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2404delT	19.37:g.49001922delA	ENSP00000472020:p.Ser802fs		Somatic					p.S831fs	NM_001080434	NP_001073903	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2491	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.2491delT																																																																																					0.766	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		2	4						2	4	---	---	---	---	-	49001922	A	-	49001922	7	5	14	1	0	1	0	1	0	0	0	0	8860	246	9	0	1998	0	LMTK3	19	49001922	Frame_Shift_Del	DEL	A	TCGA-BJ-A18Z-01A-21D-A13W-08	10191078	49001922	10127061	21	341											
GPR173	54328	broad.mit.edu	37	X	53106066	53106066	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Z-01A-21D-A13W-08	TCGA-BJ-A18Z-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	776cb4b1-8efd-4ea2-b53f-9dff7dd94b10	ba9479a1-929f-4e4e-8bf5-e23cb280dfcf	g.chrX:53106066C>T	ENST00000332582.4	+	2	754	c.263C>T	c.(262-264)tCa>tTa	p.S88L		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	88					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CACGGCTCTTCATGGACCTTC	0.577																																						uc004dru.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(262-264)tCa>tTa		Homo sapiens G protein-coupled receptor 173 (GPR173), mRNA.							120	99	106					X																	53106066		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106066C>T	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.263C>T	X.37:g.53106066C>T	ENSP00000331600:p.Ser88Leu		Somatic				GPR173_uc022bxc.1_Missense_Mutation_p.S88L	p.S88L	NM_018969	NP_061842	WXS	Illumina GAIIx	Phase_I	Q9NS66	GP173_HUMAN			1	521	+			88					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.263C>T	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078395	0.36662	.	.	ENSG00000184194	ENST00000332582	T	0.72394	-0.65	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.065862	0.64402	D	0.000017	T	0.58395	0.2119	L	0.34521	1.04	0.42929	D	0.994318	B	0.06786	0.001	B	0.10450	0.005	T	0.54503	-0.8284	10	0.22109	T	0.4	-5.0005	13.3442	0.60561	0.0:1.0:0.0:0.0	.	88	Q9NS66	GP173_HUMAN	L	88	ENSP00000331600:S88L	ENSP00000331600:S88L	S	+	2	0	GPR173	53122791	1.000000	0.71417	0.992000	0.48379	0.919000	0.55068	5.846000	0.69444	2.006000	0.58801	0.529000	0.55759	TCA		0.577	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		4	74	0	0	0	1	0	4	74					T	53106066	C	T	53106066	3	4	14	1	0	0	0	0	1	0	0	0	6671	838	29	2	265	2	GPR173	23	53106066	Missense_Mutation	SNP	C	TCGA-BJ-A18Z-01A-21D-A13W-08		53106066	102164494	22	342											
NDUFS5	4725	broad.mit.edu	37	1	39494585	39494586	+	Frame_Shift_Ins	INS	-	-	TA	rs541997196|rs372457176		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr1:39494585_39494586insTA	ENST00000372969.3	+	2	276_277	c.189_190insTA	c.(190-192)gtafs	p.V64fs	NDUFS5_ENST00000372967.3_Frame_Shift_Ins_p.V64fs	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	64					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			ATGATGATTTCGTAGAGTGTTT	0.396																																						uc001ccx.3																			0		p.D62Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5						c.(187-192)ttcgtafs		Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) (NDUFS5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)																																			SO:0001589	frameshift_variant	4725				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr1:39494585_39494586insTA	AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"Mitochondrial respiratory chain complex / Complex I"	7712	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"	603847	"NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	Exception_encountered	1.37:g.39494585_39494586insTA	ENSP00000362060:p.Val64fs		Somatic				NDUFS5_uc001ccy.3_Frame_Shift_Ins_p.F63fs	p.F63fs	NM_004552	NP_004543	WXS	Illumina GAIIx	Phase_I	O43920	NDUS5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		1	299_300	+	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	63						Frame_Shift_Ins	INS	ENST00000372969.3	37	c.189_190insTA	CCDS434.1																																																																																				0.396	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552		69	72						69	72	---	---	---	---	TA	39494586	-	TA	39494585	7	5	15	1	0	1	1	0	0	0	0	0	10295	883	31	0	191	0	NDUFS5	1	39494585	Frame_Shift_Ins	INS	-	TCGA-BJ-A191-01A-11D-A13W-08		39494585	209756036	1	343											
PDCD1	5133	broad.mit.edu	37	2	242794494	242794494	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr2:242794494C>T	ENST00000334409.5	-	3	517	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	150					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGGCACTTCTGCCCTTCTC	0.677																																						uc002wcq.4																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(448-450)Gaa>Aaa		Homo sapiens programmed cell death 1 (PDCD1), mRNA.							14	18	17					2																	242794494		2195	4292	6487	SO:0001583	missense	5133				T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794494C>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.448G>A	2.37:g.242794494C>T	ENSP00000335062:p.Glu150Lys		Somatic				PDCD1_uc010fzs.3_Intron|PDCD1_uc010fzt.3_Non-coding_Transcript	p.E150K	NM_005018	NP_005009	WXS	Illumina GAIIx	Phase_I	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	516	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	150					O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.448G>A	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353940	0.24512	.	.	ENSG00000188389	ENST00000334409	T	0.64260	-0.09	3.28	1.46	0.22682	.	0.253106	0.27298	N	0.020005	T	0.49898	0.1584	M	0.62723	1.935	0.09310	N	1	P	0.40000	0.698	B	0.33846	0.171	T	0.47328	-0.9126	10	0.56958	D	0.05	-7.8649	5.5708	0.17196	0.0:0.7385:0.0:0.2615	.	150	Q15116	PDCD1_HUMAN	K	150	ENSP00000335062:E150K	ENSP00000335062:E150K	E	-	1	0	PDCD1	242443167	0.009000	0.17119	0.000000	0.03702	0.063000	0.16089	1.459000	0.35234	0.398000	0.25338	0.305000	0.20034	GAA		0.677	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		9	21	0	0	0	1	0	9	21					T	242794494	C	T	242794494	3	4	15	1	0	0	0	0	1	0	0	0	11615	922	32	2	430	2	PDCD1	2	242794494	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		242794494	404879	2	344											
LSAMP	4045	broad.mit.edu	37	3	115561414	115561414	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr3:115561414T>C	ENST00000490035.2	-	5	1160	c.661A>G	c.(661-663)Atc>Gtc	p.I221V	LSAMP_ENST00000539563.1_Missense_Mutation_p.I218V|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	221	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GATTCTGTGATAGTGGGAGGA	0.493																																						uc011bis.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(661-663)Atc>Gtc		Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.							211	178	190					3																	115561414		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115561414T>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.661A>G	3.37:g.115561414T>C	ENSP00000419000:p.Ile221Val		Somatic				LSAMP_uc003ebs.3_Missense_Mutation_p.I221V	p.I221V	NM_002338	NP_002329	WXS	Illumina GAIIx	Phase_I	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	4	1168	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	221			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.661A>G	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600605	0.66332	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.73897	-0.79;-0.79;-0.79	5.7	5.7	0.88788	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.69185	2.1	0.58432	D	0.999999	D;P	0.53151	0.958;0.937	D;P	0.70716	0.97;0.669	D	0.85125	0.0971	10	0.51188	T	0.08	-14.7319	15.9796	0.80097	0.0:0.0:0.0:1.0	.	221;221	B2RCU8;Q13449	.;LSAMP_HUMAN	V	205;221;218	ENSP00000328455:I205V;ENSP00000419000:I221V;ENSP00000443429:I218V	ENSP00000328455:I205V	I	-	1	0	LSAMP	117044104	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.542000	0.82095	2.185000	0.69588	0.528000	0.53228	ATC		0.493	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		13	19	0	0	0	1	0	13	19					C	115561414	T	C	115561414	3	2	15	1	0	0	0	0	1	0	0	0	9048	1406	49	3	367	3	LSAMP	3	115561414	Missense_Mutation	SNP	T	TCGA-BJ-A191-01A-11D-A13W-08		115561414	82461016	3	345											
TMEM66	51669	broad.mit.edu	37	8	29927254	29927254	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:29927254G>T	ENST00000256255.6	-	3	861	c.604C>A	c.(604-606)Cca>Aca	p.P202T	TMEM66_ENST00000545648.1_Missense_Mutation_p.P30T|TMEM66_ENST00000536273.1_Missense_Mutation_p.P30T	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		202					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GAGTACGGTGGAGGAGAATAC	0.488																																						uc003xhs.3																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(604-606)Cca>Aca		Homo sapiens transmembrane protein 66 (TMEM66), mRNA.							109	95	100					8																	29927254		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927254G>T																												ENST00000256255.6:c.604C>A	8.37:g.29927254G>T	ENSP00000256255:p.Pro202Thr		Somatic				MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.P30T	p.P202T	NM_016127	NP_057211	WXS	Illumina GAIIx	Phase_I	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	2	788	-			202					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.604C>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.62|18.62	3.662455|3.662455	0.67700|0.67700	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127;ENST00000522794|ENST00000518296	T;T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02;1.02|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.112431|.	0.64402|.	D|.	0.000010|.	T|T	0.76364|0.76364	0.3977|0.3977	M|M	0.75447|0.75447	2.3|2.3	0.44042|0.44042	D|D	0.996771|0.996771	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.72982|.	0.979;0.979|.	T|T	0.75230|0.75230	-0.3391|-0.3391	10|5	0.17832|.	T|.	0.49|.	-31.3791|-31.3791	17.6081|17.6081	0.88045|0.88045	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;202|.	B3KQQ4;Q96BY9|.	.;TMM66_HUMAN|.	T|Y	202;30;166;30;100;166|71	ENSP00000256255:P202T;ENSP00000441351:P30T;ENSP00000441723:P30T;ENSP00000428323:P100T;ENSP00000429630:P166T|.	ENSP00000256255:P202T|.	P|S	-|-	1|2	0|0	TMEM66|TMEM66	30046796|30046796	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.554000|0.554000	0.35429|0.35429	4.255000|4.255000	0.58804|0.58804	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.488	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			32	83	0	0	0	1	0	32	83					T	29927254	G	T	29927254	3	4	15	1	0	0	0	0	1	0	0	0	16192	1174	41	4	431	4	TMEM66	8	29927254	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		29927254	116436768	4	346											
RIMS2	9699	broad.mit.edu	37	8	105261014	105261014	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr8:105261014C>T	ENST00000436393.2	+	25	3857	c.3616C>T	c.(3616-3618)Cgc>Tgc	p.R1206C	RIMS2_ENST00000406091.3_Missense_Mutation_p.R1188C|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1027C|RIMS2_ENST00000339750.2_Missense_Mutation_p.R124C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1002C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1250					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTAGTGGGACGCCAGACTCT	0.428										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3616-3618)Cgc>Tgc		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							96	96	96					8																	105261014		2156	4283	6439	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	g.chr8:105261014C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3616C>T	8.37:g.105261014C>T	ENSP00000390665:p.Arg1206Cys	HNSCC(12;0.0054)	Somatic				RIMS2_uc003ylp.3_Missense_Mutation_p.R1188C|RIMS2_uc003ylw.2_Missense_Mutation_p.R1195C|RIMS2_uc003ylq.3_Missense_Mutation_p.R1002C|RIMS2_uc003ylr.3_Missense_Mutation_p.R1027C	p.R1206C	NM_014677	NP_055492	WXS	Illumina GAIIx	Phase_I	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		24	3857	+			1250					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3616C>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.597826	0.87055	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.39229	2.17;1.94;2.01;1.09;1.96;1.89;1.85	5.34	5.34	0.76211	.	.	.	.	.	T	0.65176	0.2666	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0	D;D;D;D;D	0.79784	0.969;0.979;0.957;0.986;0.993	T	0.67389	-0.5683	9	0.87932	D	0	.	19.4079	0.94655	0.0:1.0:0.0:0.0	.	1250;1206;1027;1002;1188	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	1225;1188;1250;1027;1002;1195;1206;124;124	ENSP00000384892:R1188C;ENSP00000262231:R1027C;ENSP00000423559:R1002C;ENSP00000386228:R1195C;ENSP00000390665:R1206C;ENSP00000428478:R124C;ENSP00000342051:R124C	ENSP00000262231:R1027C	R	+	1	0	RIMS2	105330190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.910000	0.69931	2.664000	0.90586	0.650000	0.86243	CGC		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		17	30	0	0	0	1	0	17	30					T	105261014	C	T	105261014	3	4	15	1	0	0	0	0	1	0	0	0	13368	536	19	1	3840	1	RIMS2	8	105261014	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	75333760	105261014	41103008	5	347											
FREM1	158326	broad.mit.edu	37	9	14759843	14759843	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:14759843T>C	ENST00000380880.3	-	28	6044	c.5261A>G	c.(5260-5262)gAg>gGg	p.E1754G	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380881.4_Missense_Mutation_p.E1755G|FREM1_ENST00000380894.1_Missense_Mutation_p.E290G|FREM1_ENST00000422223.2_Missense_Mutation_p.E1754G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1754	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCCACATTCTCACAGACTTC	0.388																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(5260-5262)gAg>gGg		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							143	133	136					9																	14759843		1859	4105	5964	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14759843T>C	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5261A>G	9.37:g.14759843T>C	ENSP00000370262:p.Glu1754Gly		Somatic				FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.E290G	p.E1754G	NM_144966	NP_659403	WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	28	6077	-			1754			Calx-beta.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.5261A>G	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361384	0.82353	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.86	5.86	0.93980	Na-Ca exchanger/integrin-beta4 (1);	0.101697	0.64402	D	0.000003	T	0.80879	0.4708	M	0.89904	3.07	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84869	0.0824	10	0.72032	D	0.01	-24.6016	16.2479	0.82454	0.0:0.0:0.0:1.0	.	1754;290	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	G	1755;1754;290;1754;167	ENSP00000370263:E1755G;ENSP00000412940:E1754G;ENSP00000370278:E290G;ENSP00000370262:E1754G	ENSP00000370262:E1754G	E	-	2	0	FREM1	14749843	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.383000	0.66219	2.241000	0.73720	0.533000	0.62120	GAG		0.388	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		20	29	0	0	0	1	0	20	29					C	14759843	T	C	14759843	3	2	15	1	0	0	0	0	1	0	0	0	6044	1551	54	3	1318	3	FREM1	9	14759843	Missense_Mutation	SNP	T	TCGA-BJ-A191-01A-11D-A13W-08		14759843	126453588	6	348											
ZNF618	114991	broad.mit.edu	37	9	116811046	116811046	+	Silent	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr9:116811046C>T	ENST00000374126.5	+	15	1563	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	ZNF618_ENST00000288466.7_Silent_p.S395S|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	488					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(4)|lung(10)|urinary_tract(1)	16						GCGTGGTCAGCGGGAAGGAGT	0.582																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1462-1464)agC>agT		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							68	74	72					9																	116811046		2045	4181	6226	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811046C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1464C>T	9.37:g.116811046C>T			Somatic				ZNF618_uc004bic.3_Silent_p.S395S|ZNF618_uc011lxi.2_Silent_p.S455S|ZNF618_uc011lxj.2_Silent_p.S456S|ZNF618_uc010mvb.3_Silent_p.S78S	p.S488S	NM_133374	NP_588615	WXS	Illumina GAIIx	Phase_I	Q5T7W0	ZN618_HUMAN			14	1563	+			488					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.1464C>T																																																																																					0.582	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		33	67	0	0	0	1	0	33	67					T	116811046	C	T	116811046	2	4	15	1	0	0	0	0	0	0	0	1	18039	767	27	1		1	ZNF618	9	116811046	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	102051203	116811046	24402385	7	349											
PLXDC2	84898	broad.mit.edu	37	10	20500614	20500614	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr10:20500614G>C	ENST00000377252.4	+	10	1919	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.D311H	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	360	PSI.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGTGGATTTGATCGTCATCG	0.443																																						uc001iqg.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1078-1080)Gat>Cat		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							148	131	137					10																	20500614		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20500614G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1078G>C	10.37:g.20500614G>C	ENSP00000366460:p.Asp360His		Somatic				PLXDC2_uc001iqh.1_Missense_Mutation_p.D311H|PLXDC2_uc009xkc.1_Intron	p.D360H	NM_032812	NP_116201	WXS	Illumina GAIIx	Phase_I	Q6UX71	PXDC2_HUMAN			9	1715	+			360			PSI.		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1078G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095513	0.76870	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.32988	1.43;1.43	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.55017	1.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.39840	-0.9594	10	0.48119	T	0.1	.	17.5761	0.87949	0.0:0.0:1.0:0.0	.	311;360	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	H	360;311;223;346	ENSP00000366460:D360H;ENSP00000366450:D311H	ENSP00000366446:D223H	D	+	1	0	PLXDC2	20540620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.575000	0.74018	2.885000	0.99019	0.655000	0.94253	GAT		0.443	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		4	6	0	0	0	1	0	4	6					C	20500614	G	C	20500614	3	2	15	1	0	0	0	0	1	0	0	0	12118	1290	45	4	1116	4	PLXDC2	10	20500614	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		20500614	115034133	8	350											
RIC3	79608	broad.mit.edu	37	11	8190434	8190434	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr11:8190434C>T	ENST00000309737.6	-	1	102	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RIC3_ENST00000419822.2_Missense_Mutation_p.E35K|RP11-379P15.1_ENST00000499752.2_lincRNA|RIC3_ENST00000335425.7_Missense_Mutation_p.E35K|RIC3_ENST00000343202.4_Missense_Mutation_p.E35K|RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000425599.2_Missense_Mutation_p.E35K			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	35					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GGCGGCGGCTCCTGCCGCTTC	0.657																																						uc010rbm.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(103-105)Gag>Aag		Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.							22	24	24					11																	8190434		2157	4220	6377	SO:0001583	missense	79608					Golgi membrane|endoplasmic reticulum membrane|integral to membrane		g.chr11:8190434C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.103G>A	11.37:g.8190434C>T	ENSP00000308820:p.Glu35Lys		Somatic				RIC3_uc010rbl.1_5'UTR|RIC3_uc001mgd.2_Missense_Mutation_p.E35K|RIC3_uc001mgc.2_Missense_Mutation_p.E35K|RIC3_uc009yfm.2_Missense_Mutation_p.E35K|RIC3_uc001mge.2_Missense_Mutation_p.E35K|RIC3_uc009yfn.2_5'UTR|RIC3_uc001mgf.4_Missense_Mutation_p.E35K	p.E35K	NM_024557	NP_001193600	WXS	Illumina GAIIx	Phase_I	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	0	157	-			35					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.103G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813862	0.50527	.	.	ENSG00000166405	ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.43	4.5	0.54988	.	0.107271	0.41097	D	0.000941	T	0.34454	0.0898	M	0.63428	1.95	0.80722	D	1	P;P;B;B;B;B	0.45474	0.649;0.859;0.078;0.403;0.16;0.16	B;P;B;B;B;B	0.45195	0.164;0.473;0.059;0.168;0.087;0.087	T	0.10870	-1.0611	10	0.14252	T	0.57	-17.7483	14.066	0.64828	0.0:0.7125:0.2875:0.0	.	35;35;35;35;35;35	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5	.;.;.;.;RIC3_HUMAN;.	K	35	ENSP00000344904:E35K;ENSP00000308820:E35K;ENSP00000395320:E35K;ENSP00000431658:E35K;ENSP00000404415:E35K	ENSP00000308820:E35K	E	-	1	0	RIC3	8147010	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.735000	0.26115	1.254000	0.44035	0.491000	0.48974	GAG		0.657	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		6	7	0	0	0	1	0	6	7					T	8190434	C	T	8190434	3	4	15	1	0	0	0	0	1	0	0	0	13354	864	30	2	1027	2	RIC3	11	8190434	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		8190434	126816082	9	351											
ACAD10	80724	broad.mit.edu	37	12	112182761	112182761	+	Missense_Mutation	SNP	C	C	G	rs368355800		TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr12:112182761C>G	ENST00000313698.4	+	13	2184	c.2029C>G	c.(2029-2031)Cgt>Ggt	p.R677G	ACAD10_ENST00000392636.2_Missense_Mutation_p.R279G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.R708G|ACAD10_ENST00000549590.1_Missense_Mutation_p.R677G	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	677						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CATGGAGCAACGTGTGTACCC	0.582																																						uc009zvx.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2122-2124)Cgt>Ggt		Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.		C	GLY/ARG,GLY/ARG	1,4405	2.1+/-5.4	0,1,2202	63	62	62		2029,2122	2.7	0.0	12		62	0,8600		0,0,4300	no	missense,missense	ACAD10	NM_025247.5,NM_001136538.1	125,125	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	677/1060,708/1091	112182761	1,13005	2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182761C>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2029C>G	12.37:g.112182761C>G	ENSP00000325137:p.Arg677Gly		Somatic				ACAD10_uc001tsp.3_Missense_Mutation_p.R677G|ACAD10_uc001tsq.3_Missense_Mutation_p.R677G|ACAD10_uc001tss.1_Non-coding_Transcript	p.R708G	NM_001136538	NP_001130010	WXS	Illumina GAIIx	Phase_I	Q6JQN1	ACD10_HUMAN			13	2322	+			677					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2122C>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789027	0.16258	2.27E-4	0.0	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698	D;T;D;D	0.99730	-6.56;3.28;-6.56;-6.56	5.53	2.65	0.31530	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	1.063850	0.07295	N	0.873168	D	0.98817	0.9601	M	0.62723	1.935	0.09310	N	1	B;B;B	0.15473	0.013;0.001;0.003	B;B;B	0.14023	0.009;0.004;0.01	D	0.99925	1.1280	10	0.72032	D	0.01	.	4.7976	0.13279	0.1547:0.6104:0.0:0.2349	.	708;677;677	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	G	279;677;677;708;70;677	ENSP00000376411:R279G;ENSP00000446959:R677G;ENSP00000389813:R708G;ENSP00000325137:R677G	ENSP00000325137:R677G	R	+	1	0	ACAD10	110667144	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.094000	0.11094	0.660000	0.30964	-0.126000	0.14955	CGT		0.582	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		57	48	0	0	0	1	0	57	48					G	112182761	C	G	112182761	3	3	15	1	0	0	0	0	1	0	0	0	108	536	19	4	2172	4	ACAD10	12	112182761	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		112182761	21669134	10	352											
TSC22D1	8848	broad.mit.edu	37	13	45149845	45149845	+	Silent	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr13:45149845G>C	ENST00000458659.2	-	1	856	c.366C>G	c.(364-366)tcC>tcG	p.S122S	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Silent_p.S122S	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	122					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S122S(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGATACTAGCGGAGATCTGAG	0.493																																						uc001uzn.4																			1	Substitution - coding silent(1)	p.S122S(2)	lung(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(364-366)tcC>tcG		Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.							118	118	118					13																	45149845		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149845G>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.366C>G	13.37:g.45149845G>C			Somatic				TSC22D1_uc001uzo.2_Silent_p.S122S|TSC22D1-AS1_uc021rjb.1_5'Flank	p.S122S	NM_183422	NP_904358	WXS	Illumina GAIIx	Phase_I	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	0	857	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	122					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.366C>G	CCDS31966.1																																																																																				0.493	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		127	151	0	0	0	1	0	127	151					C	45149845	G	C	45149845	2	2	15	1	0	0	0	0	0	0	0	1	16604	1103	39	4		4	TSC22D1	13	45149845	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		45149845	70020033	11	353											
ABHD4	63874	broad.mit.edu	37	14	23075421	23075421	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:23075421G>A	ENST00000428304.2	+	5	804	c.734G>A	c.(733-735)tGc>tAc	p.C245Y	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	245					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		ATTTACCACTGCAACGCACAG	0.522																																						uc001wgm.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(733-735)tGc>tAc		Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.							45	43	44					14																	23075421		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23075421G>A	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"Abhydrolase domain containing"	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.734G>A	14.37:g.23075421G>A	ENSP00000414558:p.Cys245Tyr		Somatic				ABHD4_uc010tna.1_Missense_Mutation_p.A272T|ABHD4_uc010tnb.2_Non-coding_Transcript	p.C245Y	NM_022060	NP_071343	WXS	Illumina GAIIx	Phase_I	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	4	803	+	all_cancers(95;5.49e-05)		245					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.734G>A	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968175	0.74131	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	D;D	0.83992	-1.79;-1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91996	0.5607	10	0.54805	T	0.06	-18.5192	16.7765	0.85552	0.0:0.0:1.0:0.0	.	245	Q8TB40	ABHD4_HUMAN	Y	245;179	ENSP00000414558:C245Y;ENSP00000216327:C179Y	ENSP00000216327:C179Y	C	+	2	0	ABHD4	22145261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.284000	0.72652	2.551000	0.86045	0.650000	0.86243	TGC		0.522	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			13	10	0	0	0	1	0	13	10					A	23075421	G	A	23075421	3	1	15	1	0	0	0	0	1	0	0	0	84	1319	46	2	752	2	ABHD4	14	23075421	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		23075421	84274119	12	354											
DAAM1	23002	broad.mit.edu	37	14	59789679	59789679	+	Silent	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:59789679C>T	ENST00000395125.1	+	5	533	c.510C>T	c.(508-510)taC>taT	p.Y170Y	DAAM1_ENST00000360909.3_Silent_p.Y170Y|DAAM1_ENST00000351081.1_Silent_p.Y170Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	170	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCATGGACTACGAGACCTCAG	0.448																																						uc001xdz.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(508-510)taC>taT		Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.							139	134	135					14																	59789679		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding	g.chr14:59789679C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.510C>T	14.37:g.59789679C>T			Somatic				DAAM1_uc001xea.1_Silent_p.Y170Y|DAAM1_uc001xeb.1_Silent_p.Y170Y	p.Y170Y	NM_014992	NP_055807	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	635	+			170			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.510C>T	CCDS9737.1																																																																																				0.448	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		58	67	0	0	0	1	0	58	67					T	59789679	C	T	59789679	2	4	15	1	0	0	0	0	0	0	0	1	4215	547	19	1		1	DAAM1	14	59789679	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	36714258	59789679	47559861	13	355											
STON2	85439	broad.mit.edu	37	14	81744032	81744032	+	Silent	SNP	G	G	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:81744032G>A	ENST00000267540.2	-	4	1823	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	STON2_ENST00000555447.1_Silent_p.F541F|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	541	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTGCATGGATGAAACTCAGGA	0.498																																						uc001xvk.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1621-1623)ttC>ttT		Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.							98	98	98					14																	81744032		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744032G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1623C>T	14.37:g.81744032G>A			Somatic				STON2_uc010tvu.2_Silent_p.F541F|STON2_uc010tvt.2_Silent_p.F338F	p.F541F	NM_033104	NP_149095	WXS	Illumina GAIIx	Phase_I	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	5	2036	-			541			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1623C>T	CCDS9875.1																																																																																				0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		50	66	0	0	0	1	0	50	66					A	81744032	G	A	81744032	2	1	15	1	0	0	0	0	0	0	0	1	15317	1281	45	2		2	STON2	14	81744032	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	21954353	81744032	25605508	14	356											
BTBD7	55727	broad.mit.edu	37	14	93723588	93723588	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:93723588G>C	ENST00000334746.5	-	6	1868	c.1561C>G	c.(1561-1563)Cga>Gga	p.R521G	BTBD7_ENST00000554565.1_Missense_Mutation_p.R170G|BTBD7_ENST00000393170.2_Missense_Mutation_p.R95G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	521					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)		TGTTCAATTCGCACAAAAGGT	0.408																																						uc001ybo.3																			0		p.R521L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1561-1563)Cga>Gga		Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.							166	156	159					14																	93723588		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93723588G>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1561C>G	14.37:g.93723588G>C	ENSP00000335615:p.Arg521Gly		Somatic				BTBD7_uc010aur.3_Missense_Mutation_p.R46G|BTBD7_uc010two.2_Missense_Mutation_p.R341G|BTBD7_uc001ybp.3_Missense_Mutation_p.R170G|BTBD7_uc001ybq.4_Missense_Mutation_p.R436G	p.R521G	NM_001002860	NP_001002860	WXS	Illumina GAIIx	Phase_I	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	5	1887	-		all_cancers(154;0.08)	521					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1561C>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954828	0.73902	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.76839	-0.78;-1.05	5.64	3.76	0.43208	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.995	D	0.89316	0.3636	10	0.87932	D	0	.	15.1131	0.72375	0.0:0.0:0.7415:0.2585	.	95;170;521	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	G	521;170;136;95	ENSP00000335615:R521G;ENSP00000451010:R170G	ENSP00000335615:R521G	R	-	1	2	BTBD7	92793341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.893000	0.56243	0.800000	0.34041	0.650000	0.86243	CGA		0.408	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		55	75	0	0	0	1	0	55	75					C	93723588	G	C	93723588	3	2	15	1	0	0	0	0	1	0	0	0	1546	1095	38	4	1861	4	BTBD7	14	93723588	Missense_Mutation	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08	11979556	93723588	13625952	15	357											
TECPR2	9895	broad.mit.edu	37	14	102873742	102873742	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr14:102873742C>T	ENST00000359520.7	+	3	513	c.287C>T	c.(286-288)aCa>aTa	p.T96I	TECPR2_ENST00000558678.1_Missense_Mutation_p.T96I|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	96					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCAGCAGGCACAGCCTCTGGC	0.463																																						uc001ylw.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(286-288)aCa>aTa		Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.							93	82	86					14																	102873742		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102873742C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.287C>T	14.37:g.102873742C>T	ENSP00000352510:p.Thr96Ile		Somatic				TECPR2_uc010txw.2_Missense_Mutation_p.T96I|TECPR2_uc010awl.3_Missense_Mutation_p.T96I|TECPR2_uc010txx.2_Intron	p.T96I	NM_014844	NP_055659	WXS	Illumina GAIIx	Phase_I	O15040	TCPR2_HUMAN			2	513	+			96					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.287C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277190	0.95459	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.01406	4.93	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	L	0.56769	1.78	0.52099	D	0.999941	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.991;0.992;0.996	T	0.00630	-1.1636	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	96;96;96	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	I	96	ENSP00000352510:T96I	ENSP00000352510:T96I	T	+	2	0	TECPR2	101943495	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	7.463000	0.80869	2.937000	0.99478	0.650000	0.86243	ACA		0.463	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		54	36	0	0	0	1	0	54	36					T	102873742	C	T	102873742	3	4	15	1	0	0	0	0	1	0	0	0	15741	478	17	2	293	2	TECPR2	14	102873742	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	9150154	102873742	4475798	16	358											
NUP93	9688	broad.mit.edu	37	16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					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)|nuclear pore complex assembly (GO:0051292)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	uc002eka.3																			1	Substitution - Nonsense(1)	p.E14K(3)|p.Q15*(2)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.							67	65	66					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*		Somatic					p.Q15*	NM_014669	NP_001229725	WXS	Illumina GAIIx	Phase_I	Q8N1F7	NUP93_HUMAN			1	164	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		31	74	0	0	0	1	0	31	74					T	56782202	C	T	56782202	4	4	15	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		56782202	33572551	17	359											
NCOR1	9611	broad.mit.edu	37	17	15983374	15983374	+	Silent	SNP	G	G	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:15983374G>A	ENST00000268712.3	-	26	3662	c.3405C>T	c.(3403-3405)acC>acT	p.T1135T	NCOR1_ENST00000395851.1_Silent_p.T1151T|NCOR1_ENST00000395857.3_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1135	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCTCCTGCGGTACCTGAAT	0.463																																						uc002gpo.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3403-3405)acC>acT		Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.							119	104	109					17																	15983374		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15983374G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3405C>T	17.37:g.15983374G>A			Somatic				NCOR1_uc002gpn.3_Silent_p.T1151T|NCOR1_uc002gpp.1_Silent_p.T1042T|NCOR1_uc010vwb.2_5'UTR|NCOR1_uc010coy.3_Silent_p.T43T|NCOR1_uc010vwc.2_5'UTR	p.T1135T	NM_006311	NP_006302	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	25	3674	-			1135			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3405C>T	CCDS11175.1																																																																																				0.463	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		28	29	0	0	0	1	0	28	29					A	15983374	G	A	15983374	2	1	15	1	0	0	0	0	0	0	0	1	10235	1103	39	1		1	NCOR1	17	15983374	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		15983374	65211836	18	360											
CCL13	6357	broad.mit.edu	37	17	32683581	32683581	+	Silent	SNP	C	C	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:32683581C>G	ENST00000225844.2	+	1	111	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	12					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				GCCTGCTGCTCATGACAGCAG	0.502																																						uc002hic.3																			0				large_intestine(1)|prostate(1)	2						c.(34-36)ctC>ctG		Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.							185	174	178					17																	32683581		2203	4300	6503	SO:0001819	synonymous_variant	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32683581C>G	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"Chemokine ligands", "Endogenous ligands"	10611	protein-coding gene	gene with protein product		601391	"small inducible cytokine subfamily A (Cys-Cys), member 13"	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.36C>G	17.37:g.32683581C>G			Somatic					p.L12L	NM_005408	NP_005399	WXS	Illumina GAIIx	Phase_I	Q99616	CCL13_HUMAN			0	111	+		Ovarian(249;0.0443)|Breast(31;0.151)	12					O95689|Q6ICQ6	Silent	SNP	ENST00000225844.2	37	c.36C>G	CCDS11281.1																																																																																				0.502	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		22	26	0	0	0	1	0	22	26					G	32683581	C	G	32683581	2	3	15	1	0	0	0	0	0	0	0	1	2884	813	29	4		4	CCL13	17	32683581	Silent	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	16700207	32683581	48511629	19	361											
NPEPPS	9520	broad.mit.edu	37	17	45608849	45608849	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr17:45608849C>G	ENST00000322157.4	+	1	420	c.183C>G	c.(181-183)atC>atG	p.I61M	NPEPPS_ENST00000530173.1_Missense_Mutation_p.I57M|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Missense_Mutation_p.I17M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	61					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCCCCCATCAACTACAGCC	0.687																																						uc002ilr.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(181-183)atC>atG		Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.																																				SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45608849C>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.183C>G	17.37:g.45608849C>G	ENSP00000320324:p.Ile61Met		Somatic				NPEPPS_uc010wkt.2_Missense_Mutation_p.I57M|NPEPPS_uc010wku.2_Missense_Mutation_p.I61M	p.I61M	NM_006310	NP_006301	WXS	Illumina GAIIx	Phase_I	P55786	PSA_HUMAN			0	406	+			61					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.183C>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835877	0.32421	.	.	ENSG00000141279	ENST00000525007;ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T;T	0.04454	4.12;4.12;4.12;3.62	2.69	1.7	0.24286	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.082576	0.50627	U	0.000117	T	0.09113	0.0225	L	0.49640	1.575	0.33057	D	0.53358	B;B;B	0.34313	0.448;0.259;0.411	B;B;P	0.47102	0.332;0.264;0.537	T	0.07597	-1.0764	10	0.48119	T	0.1	.	8.2424	0.31669	0.0:0.871:0.0:0.129	.	61;57;61	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	M	48;57;61;48;17	ENSP00000437019:I48M;ENSP00000433287:I57M;ENSP00000320324:I61M;ENSP00000442461:I17M	ENSP00000320324:I61M	I	+	3	3	NPEPPS	42963848	1.000000	0.71417	0.996000	0.52242	0.306000	0.27790	4.188000	0.58351	0.330000	0.23485	-0.361000	0.07541	ATC		0.687	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		7	8	0	0	0	1	0	7	8					G	45608849	C	G	45608849	3	3	15	1	0	0	0	0	1	0	0	0	10575	816	29	4	185	4	NPEPPS	17	45608849	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08	12925268	45608849	35586361	20	362											
ALPK2	115701	broad.mit.edu	37	18	56204584	56204584	+	Silent	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr18:56204584G>C	ENST00000361673.3	-	5	3048	c.2835C>G	c.(2833-2835)ctC>ctG	p.L945L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	945						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGAAGAAAGGAGCTGTGTTT	0.532																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(2833-2835)ctC>ctG		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							57	58	57					18																	56204584		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204584G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2835C>G	18.37:g.56204584G>C			Somatic				ALPK2_uc002lhk.1_Silent_p.L276L	p.L945L	NM_052947	NP_443179	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			4	3049	-			945					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.2835C>G	CCDS11966.2																																																																																				0.532	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		15	11	0	0	0	1	0	15	11					C	56204584	G	C	56204584	2	2	15	1	0	0	0	0	0	0	0	1	545	1161	41	4		4	ALPK2	18	56204584	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		56204584	21872664	21	363											
CELF5	60680	broad.mit.edu	37	19	3282183	3282183	+	Silent	SNP	G	G	C			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr19:3282183G>C	ENST00000292672.2	+	7	847	c.810G>C	c.(808-810)gtG>gtC	p.V270V	CELF5_ENST00000541430.2_Silent_p.V270V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	270					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GTCCCGGCGTGGCCTTCTCAC	0.622																																						uc002lxm.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(808-810)gtG>gtC		Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.							129	108	115					19																	3282183		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding	g.chr19:3282183G>C	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.810G>C	19.37:g.3282183G>C			Somatic				CELF5_uc010dtj.2_Silent_p.V270V|CELF5_uc002lxl.2_Silent_p.V270V|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	p.V270V	NM_021938	NP_068757	WXS	Illumina GAIIx	Phase_I	Q8N6W0	CELF5_HUMAN			6	847	+			270					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.810G>C	CCDS12106.1																																																																																				0.622	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		64	118	0	0	0	1	0	64	118					C	3282183	G	C	3282183	2	2	15	1	0	0	0	0	0	0	0	1	3219	1335	47	4		4	CELF5	19	3282183	Silent	SNP	G	TCGA-BJ-A191-01A-11D-A13W-08		3282183	55846800	22	364											
NPBWR2	2832	broad.mit.edu	37	20	62737969	62737969	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr20:62737969C>A	ENST00000369768.1	-	1	555	c.216G>T	c.(214-216)agG>agT	p.R72S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	72					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TCTTGGGCGCCCTTAGGATTA	0.617																																						uc011abt.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(214-216)agG>agT		Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.							71	59	63					20																	62737969		2201	4300	6501	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737969C>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.216G>T	20.37:g.62737969C>A	ENSP00000358783:p.Arg72Ser		Somatic					p.R72S	NM_005286	NP_005277	WXS	Illumina GAIIx	Phase_I	P48146	NPBW2_HUMAN			0	216	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		72					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.216G>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687479	0.48097	.	.	ENSG00000125522	ENST00000369768	T	0.39997	1.05	3.74	-0.626	0.11544	GPCR, rhodopsin-like superfamily (1);	0.063428	0.64402	U	0.000015	T	0.43366	0.1244	M	0.62209	1.925	0.28443	N	0.916724	P	0.48834	0.916	P	0.49085	0.6	T	0.44967	-0.9293	10	0.87932	D	0	.	8.7092	0.34374	0.0:0.5513:0.0:0.4486	.	72	P48146	NPBW2_HUMAN	S	72	ENSP00000358783:R72S	ENSP00000358783:R72S	R	-	3	2	NPBWR2	62208413	0.626000	0.27120	0.217000	0.23759	0.510000	0.34073	-0.198000	0.09505	0.100000	0.17581	0.484000	0.47621	AGG		0.617	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		33	25	0	0	0	1	0	33	25					A	62737969	C	A	62737969	3	1	15	1	0	0	0	0	1	0	0	0	10569	622	22	4	788	4	NPBWR2	20	62737969	Missense_Mutation	SNP	C	TCGA-BJ-A191-01A-11D-A13W-08		62737969	287551	23	365											
IL17REL	400935	broad.mit.edu	37	22	50436654	50436654	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A191-01A-11D-A13W-08	TCGA-BJ-A191-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c2e6a0-2341-49c4-a6dd-656e7bb505dd	62c780b8-c3a9-4c61-a1bc-18a80c5ca48d	g.chr22:50436654A>G	ENST00000389983.2	-	10	950	c.686T>C	c.(685-687)gTg>gCg	p.V229A	IL17REL_ENST00000341280.5_Missense_Mutation_p.V229A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	229										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGCCACTCACAGGGCAGGC	0.677																																						uc003bje.1																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(685-687)gTg>gCg		Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.							42	48	46					22																	50436654		2203	4300	6503	SO:0001583	missense	400935							g.chr22:50436654A>G	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.686T>C	22.37:g.50436654A>G	ENSP00000374633:p.Val229Ala		Somatic					p.V229A	NM_001001694	NP_001001694	WXS	Illumina GAIIx	Phase_I	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	9	918	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	229					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.686T>C	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798149	0.50208	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16457	2.34;2.34	3.05	3.05	0.35203	.	0.098435	0.40144	U	0.001165	T	0.25568	0.0622	L	0.52573	1.65	0.23906	N	0.996508	D	0.59357	0.985	P	0.56823	0.807	T	0.02574	-1.1139	10	0.72032	D	0.01	.	7.5203	0.27624	1.0:0.0:0.0:0.0	.	229	Q6ZVW7	I17EL_HUMAN	A	229	ENSP00000374633:V229A;ENSP00000342520:V229A	ENSP00000342520:V229A	V	-	2	0	IL17REL	48778781	0.140000	0.22579	0.908000	0.35775	0.351000	0.29236	1.572000	0.36461	1.265000	0.44215	0.459000	0.35465	GTG		0.677	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		3	78	0	0	0	1	0	3	78					G	50436654	A	G	50436654	3	3	15	1	0	0	0	0	1	0	0	0	7644	159	6	3	344	3	IL17REL	22	50436654	Missense_Mutation	SNP	A	TCGA-BJ-A191-01A-11D-A13W-08		50436654	867912	24	366											
GNAT1	2779	broad.mit.edu	37	3	50230803	50230803	+	Silent	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr3:50230803C>T	ENST00000433068.1	+	3	311	c.255C>T	c.(253-255)acC>acT	p.T85T	GNAT1_ENST00000232461.3_Silent_p.T85T	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	85					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGCCATGACCACACTCAACA	0.637																																						uc003cym.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(253-255)acC>acT		Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.							84	71	76					3																	50230803		2203	4300	6503	SO:0001819	synonymous_variant	2779				G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity	g.chr3:50230803C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.255C>T	3.37:g.50230803C>T			Somatic				GNAT1_uc003cyl.2_Silent_p.T85T	p.T85T	NM_144499	NP_653082	WXS	Illumina GAIIx	Phase_I	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	371	+			85					Q4VBN2	Silent	SNP	ENST00000433068.1	37	c.255C>T	CCDS2812.1																																																																																				0.637	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		8	31	0	0	0	1	0	8	31					T	50230803	C	T	50230803	2	4	16	1	0	0	0	0	0	0	0	1	6511	581	21	2		2	GNAT1	3	50230803	Silent	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		50230803	147791627	1	367											
CDH12	1010	broad.mit.edu	37	5	21842341	21842341	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr5:21842341C>T	ENST00000382254.1	-	8	1829	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G208E|CDH12_ENST00000504376.2_Missense_Mutation_p.G248E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	248	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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCGGCTAATCCTCCAAGCTG	0.423										HNSCC(59;0.17)																												uc010iuc.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(742-744)gGa>gAa		Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.							347	262	291					5																	21842341		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842341C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.743G>A	5.37:g.21842341C>T	ENSP00000371689:p.Gly248Glu	HNSCC(59;0.17)	Somatic				CDH12_uc011cno.1_Missense_Mutation_p.G208E|CDH12_uc003jgk.2_Missense_Mutation_p.G248E	p.G248E	NM_004061	NP_004052	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			4	1201	-			248			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.743G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097091	0.94197	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60040	0.63;0.63;0.22	5.34	5.34	0.76211	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.79948	-0.1588	10	0.87932	D	0	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	208;248	B7Z2U6;P55289	.;CAD12_HUMAN	E	248;248;208	ENSP00000423577:G248E;ENSP00000371689:G248E;ENSP00000428786:G208E	ENSP00000371689:G248E	G	-	2	0	CDH12	21878098	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	7.666000	0.83877	2.480000	0.83734	0.655000	0.94253	GGA		0.423	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		9	163	0	0	0	1	0	9	163					T	21842341	C	T	21842341	3	4	16	1	0	0	0	0	1	0	0	0	3098	855	30	2	1673	2	CDH12	5	21842341	Missense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		21842341	159072919	2	368											
ABP1	26	broad.mit.edu	37	7	150554081	150554081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr7:150554081C>T	ENST00000493429.1	+	4	1107	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	AOC1_ENST00000467291.1_Nonsense_Mutation_p.Q175*|AOC1_ENST00000360937.4_Nonsense_Mutation_p.Q175*|AOC1_ENST00000416793.2_Nonsense_Mutation_p.Q175*			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	175					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTTCTCATTCCAAGACTGCCA	0.582																																						uc003wia.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(523-525)Caa>Taa		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)						76	77	76					7																	150554081		2010	4176	6186	SO:0001587	stop_gained	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554081C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.523C>T	7.37:g.150554081C>T	ENSP00000418614:p.Gln175*		Somatic				ABP1_uc003why.1_Nonsense_Mutation_p.Q175*|ABP1_uc003whz.1_Nonsense_Mutation_p.Q175*	p.Q175*	NM_001091	NP_001082	WXS	Illumina GAIIx	Phase_I	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	613	+	all_neural(206;0.219)		175					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Nonsense_Mutation	SNP	ENST00000493429.1	37	c.523C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008422	0.75046	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	.	.	.	5.45	2.57	0.30868	.	1.165620	0.06129	N	0.670192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.7051	3.5456	0.07827	0.2992:0.4614:0.1577:0.0817	.	.	.	.	X	175;175;175;175;175;51;175	.	ENSP00000354193:Q175X	Q	+	1	0	ABP1	150185014	0.000000	0.05858	0.001000	0.08648	0.261000	0.26267	0.377000	0.20552	0.237000	0.21200	0.655000	0.94253	CAA		0.582	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		40	111	0	0	0	1	0	40	111					T	150554081	C	T	150554081	4	4	16	1	0	0	0	0	0	1	0	0	98	595	21	2	525	2	ABP1	7	150554081	Nonsense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		150554081	8584582	3	369											
MSI1	4440	broad.mit.edu	37	12	120805884	120805884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr12:120805884delA	ENST00000257552.2	-	4	282	c.194delT	c.(193-195)ttcfs	p.F65fs	RPS27P25_ENST00000477404.1_RNA	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAAGTGACGAAGCCGAAACC	0.657																																						uc001tye.1																			0		p.F65F(1)		breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(193-195)ttcfs		Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.							39	33	35					12																	120805884		2203	4300	6503	SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120805884delA	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.194delT	12.37:g.120805884delA	ENSP00000257552:p.Phe65fs		Somatic					p.F65fs	NM_002442	NP_002433	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			3	258	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		65			RRM 1.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Del	DEL	ENST00000257552.2	37	c.194delT	CCDS9196.1																																																																																				0.657	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		9	11						9	11	---	---	---	---	-	120805884	A	-	120805884	7	5	16	1	0	1	0	1	0	0	0	0	9875	246	9	0	938	0	MSI1	12	120805884	Frame_Shift_Del	DEL	A	TCGA-BJ-A192-01A-31D-A13W-08		120805884	13046011	4	370											
ERAL1	26284	broad.mit.edu	37	17	27182067	27182067	+	Silent	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr17:27182067C>T	ENST00000254928.5	+	1	112	c.15C>T	c.(13-15)agC>agT	p.S5S	ERAL1_ENST00000578001.1_3'UTR|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	5					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTGCCCCCAGCTGGCGCGGGG	0.612																																						uc002hcy.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(13-15)agC>agT		Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.							29	30	30					17																	27182067		2199	4294	6493	SO:0001819	synonymous_variant	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding	g.chr17:27182067C>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.15C>T	17.37:g.27182067C>T			Somatic				ERAL1_uc002hcx.1_Silent_p.S5S|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	p.S5S	NM_005702	NP_005693	WXS	Illumina GAIIx	Phase_I	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		0	25	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		5					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	ENST00000254928.5	37	c.15C>T	CCDS11244.1																																																																																				0.612	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			5	26	0	0	0	1	0	5	26					T	27182067	C	T	27182067	2	4	16	1	0	0	0	0	0	0	0	1	5202	796	28	2		2	ERAL1	17	27182067	Silent	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		27182067	54013143	5	371											
KEAP1	9817	broad.mit.edu	37	19	10600426	10600426	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:10600426C>T	ENST00000171111.5	-	4	1976	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.G477S|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	477					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCGTCAAAGCCCCCCACGGCA	0.577																																						uc002moq.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1429-1431)Ggc>Agc		Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.							85	69	74					19																	10600426		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600426C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1429G>A	19.37:g.10600426C>T	ENSP00000171111:p.Gly477Ser		Somatic				KEAP1_uc002mop.1_Missense_Mutation_p.G195S|KEAP1_uc002mor.1_Missense_Mutation_p.G477S	p.G477S	NM_012289	NP_987096	WXS	Illumina GAIIx	Phase_I	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1585	-			477					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1429G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352299	0.82132	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.99494	-6.01;-6.01	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97355	0.9966	10	0.87932	D	0	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	477	Q14145	KEAP1_HUMAN	S	477	ENSP00000171111:G477S;ENSP00000377245:G477S	ENSP00000171111:G477S	G	-	1	0	KEAP1	10461426	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	7.509000	0.81698	2.752000	0.94435	0.558000	0.71614	GGC		0.577	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		12	8	0	0	0	1	0	12	8					T	10600426	C	T	10600426	3	4	16	1	0	0	0	0	1	0	0	0	8141	623	22	2	457	2	KEAP1	19	10600426	Missense_Mutation	SNP	C	TCGA-BJ-A192-01A-31D-A13W-08		10600426	48528557	6	372											
NFKBID	84807	broad.mit.edu	37	19	36387021	36387021	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:36387021G>A	ENST00000396901.1	-	9	1040	c.467C>T	c.(466-468)cCg>cTg	p.P156L	NFKBID_ENST00000352614.2_Missense_Mutation_p.P308L|NFKBID_ENST00000606253.1_Missense_Mutation_p.P156L|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	156					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CGTGTGGAGCGGGGTGAGGCC	0.647																																						uc002oci.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(466-468)cCg>cTg		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.							119	148	138					19																	36387021		2125	4219	6344	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36387021G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.467C>T	19.37:g.36387021G>A	ENSP00000380109:p.Pro156Leu		Somatic				NFKBID_uc002och.1_5'UTR	p.P156L	NM_139239	NP_640332	WXS	Illumina GAIIx	Phase_I	Q8NI38	IKBD_HUMAN			8	1041	-			156					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.467C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389740	0.82902	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.51817	0.69;0.69	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.117559	0.64402	D	0.000017	T	0.64316	0.2587	M	0.88979	2.995	0.80722	D	1	D;D	0.57571	0.975;0.98	P;P	0.49477	0.6;0.612	T	0.74438	-0.3665	10	0.87932	D	0	.	16.0724	0.80943	0.0:0.0:1.0:0.0	.	308;156	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	L	308;156	ENSP00000252985:P308L;ENSP00000380109:P156L	ENSP00000252985:P308L	P	-	2	0	NFKBID	41078861	1.000000	0.71417	0.933000	0.37362	0.911000	0.54048	7.924000	0.87555	2.393000	0.81446	0.561000	0.74099	CCG		0.647	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		9	75	0	0	0	1	0	9	75					A	36387021	G	A	36387021	3	1	16	1	0	0	0	0	1	0	0	0	10379	1116	39	1	490	1	NFKBID	19	36387021	Missense_Mutation	SNP	G	TCGA-BJ-A192-01A-31D-A13W-08	25786595	36387021	22741962	7	373											
LGALS13	29124	broad.mit.edu	37	19	40095966	40095966	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A192-01A-31D-A13W-08	TCGA-BJ-A192-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d79a268-fa99-488e-ac9a-24e7adef76bc	05f2dae1-eff1-46b9-ada8-423cb1cdb118	g.chr19:40095966G>A	ENST00000221797.4	+	3	286	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	81	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			AACAGACTACGTGCCCTTTGA	0.493																																						uc002omb.3																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(241-243)Gtg>Atg		Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.							220	164	183					19																	40095966		2203	4300	6503	SO:0001583	missense	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095966G>A	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.241G>A	19.37:g.40095966G>A	ENSP00000221797:p.Val81Met		Somatic					p.V81M	NM_013268	NP_037400	WXS	Illumina GAIIx	Phase_I	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	281	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		81			Galectin.		C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	c.241G>A	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.695544	0.00098	.	.	ENSG00000105198	ENST00000221797	T	0.05447	3.44	0.744	-0.815	0.10843	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.01800	0.0057	N	0.02674	-0.535	0.09310	N	1	B	0.23058	0.079	B	0.18871	0.023	T	0.44559	-0.9320	8	0.02654	T	1	.	.	.	.	.	81	Q9UHV8	PP13_HUMAN	M	81	ENSP00000221797:V81M	ENSP00000221797:V81M	V	+	1	0	LGALS13	44787806	0.033000	0.19621	0.003000	0.11579	0.043000	0.13939	-0.033000	0.12246	-0.333000	0.08476	0.305000	0.20034	GTG		0.493	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		31	47	0	0	0	1	0	31	47					A	40095966	G	A	40095966	3	1	16	1	0	0	0	0	1	0	0	0	8740	1145	40	1	251	1	LGALS13	19	40095966	Missense_Mutation	SNP	G	TCGA-BJ-A192-01A-31D-A13W-08	3708945	40095966	19033017	8	374											
SNX27	81609	broad.mit.edu	37	1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC	rs567208173	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:151584734_151584735insGGC	ENST00000458013.2	+	1	177_178	c.57_58insGGC	c.(58-60)ggc>GGCggc	p.20_20G>GG	SNX27_ENST00000368843.3_In_Frame_Ins_p.20_20G>GG|RP11-404E16.1_ENST00000504583.2_RNA			Q96L92	SNX27_HUMAN	sorting nexin family member 27	20					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.738														3	0.000599042	8e-04	0.0014	5008	,	,		10116	0		0.001	False		,,,				2504	0				Colon(46;291 966 40145 41237 41888)	uc001eyn.1																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(55-60)insGGC		Homo sapiens sorting nexin family member 27 (SNX27), mRNA.																																				SO:0001652	inframe_insertion	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151584734_151584735insGGC	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.67_69dupGGC	1.37:g.151584741_151584743dupGGC	ENSP00000400333:p.Gly25dup		Somatic					p.25_26insG	NM_030918	NP_112180	WXS	Illumina GAIIx	Phase_I	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		0	73_74	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		25					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	In_Frame_Ins	INS	ENST00000458013.2	37	c.57_58insGGC																																																																																					0.738	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		7	2						7	2	---	---	---	---	GGC	151584735	-	GGC	151584734	7	5	17	1	0	1	1	0	0	0	0	0	14897	1683	59	0	59	0	SNX27	1	151584734	In_Frame_Ins	INS	-	TCGA-BJ-A28R-01A-11D-A16O-08		151584734	97665887	1	375											
TPM3	7170	broad.mit.edu	37	1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:154145568A>G	ENST00000368530.2	-	4	679	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368533.3_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	163					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																	uc001fec.1				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"E, L"	"NTRK1, ALK, ROS1"		"papillary thyroid, ALCL, NSCLC"	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(487-489)Tat>Cat		Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.							198	167	178					1																	154145568		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145568A>G	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"Tropomyosins"	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.487T>C	1.37:g.154145568A>G	ENSP00000357516:p.Tyr163His		Somatic				TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.Y36H|TPM3_uc001fdy.1_Missense_Mutation_p.Y126H|TPM3_uc001fdz.1_Missense_Mutation_p.Y126H|TPM3_uc001fea.1_Missense_Mutation_p.Y126H|TPM3_uc001feb.1_Missense_Mutation_p.Y126H|TPM3_uc010pej.1_Missense_Mutation_p.Y59H|TPM3_uc001fed.1_Missense_Mutation_p.Y126H	p.Y163H	NM_152263	NP_689476	WXS	Illumina GAIIx	Phase_I	P06753	TPM3_HUMAN			3	602	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		162					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.487T>C	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416590	0.83449	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.95539	3.685	0.51233	D	0.999917	P;D;D;D;B;P;B	0.76494	0.885;0.999;0.999;0.999;0.275;0.822;0.108	D;D;D;D;B;P;P	0.97110	0.916;0.999;1.0;0.993;0.374;0.897;0.56	D	0.99301	1.0901	10	0.87932	D	0	-1.777	16.2588	0.82530	1.0:0.0:0.0:0.0	.	60;126;162;126;126;126;126	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	H	126;110;126;102;126;163;36;126;126;163	ENSP00000357521:Y126H;ENSP00000341653:Y110H;ENSP00000339035:Y126H;ENSP00000339378:Y102H;ENSP00000357520:Y126H;ENSP00000271850:Y163H;ENSP00000307712:Y36H;ENSP00000357517:Y126H;ENSP00000357518:Y126H;ENSP00000357516:Y163H	ENSP00000271850:Y163H	Y	-	1	0	TPM3	152412192	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.246000	0.95438	2.243000	0.73865	0.459000	0.35465	TAT		0.428	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		47	89	0	0	0	1	0	47	89					G	154145568	A	G	154145568	3	3	17	1	0	0	0	0	1	0	0	0	16404	391	14	3	649	3	TPM3	1	154145568	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08	2560834	154145568	95105053	2	376											
XPR1	9213	broad.mit.edu	37	1	180651511	180651511	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:180651511C>T	ENST00000367590.4	+	2	283	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_ENST00000367589.3_Silent_p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	29	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328																																						uc001goi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(85-87)Ctg>Ttg		Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.							98	104	102					1																	180651511		2203	4299	6502	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180651511C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.85C>T	1.37:g.180651511C>T			Somatic				XPR1_uc009wxm.2_Silent_p.L29L|XPR1_uc009wxn.3_Silent_p.L29L	p.L29L	NM_004736	NP_004727	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			1	277	+			29			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.85C>T	CCDS1340.1																																																																																				0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	173	0	0	0	1	0	5	173					T	180651511	C	T	180651511	2	4	17	1	0	0	0	0	0	0	0	1	17448	796	28	2		2	XPR1	1	180651511	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	26505943	180651511	68599110	3	377											
SCN10A	6336	broad.mit.edu	37	3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:38755465C>G	ENST00000449082.2	-	21	3787	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTTCAAATCGAGAAAGAGC	0.537																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3787-3789)cGa>cCa		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						66	68	67					3																	38755465		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755465C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3788G>C	3.37:g.38755465C>G	ENSP00000390600:p.Arg1263Pro		Somatic					p.R1263P	NM_006514	NP_006505	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	20	3788	-			1263					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3788G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358887	0.82353	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99855	4.85	0.54753	D	0.999983	D	0.63046	0.992	D	0.65140	0.932	D	0.97300	0.9930	10	0.87932	D	0	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	1263	Q9Y5Y9	SCNAA_HUMAN	P	1263	ENSP00000390600:R1263P	ENSP00000390600:R1263P	R	-	2	0	SCN10A	38730469	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.917000	0.69989	2.133000	0.65898	0.411000	0.27672	CGA		0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		8	86	0	0	0	1	0	8	86					G	38755465	C	G	38755465	3	3	17	1	0	0	0	0	1	0	0	0	13912	884	31	4	2110	4	SCN10A	3	38755465	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		38755465	159266965	4	378											
YEATS2	55689	broad.mit.edu	37	3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:183518272C>T	ENST00000305135.5	+	24	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1115					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473																																						uc003fly.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3343-3345)aCa>aTa		Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.							68	70	70					3																	183518272		2034	4203	6237	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183518272C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3344C>T	3.37:g.183518272C>T	ENSP00000306983:p.Thr1115Ile		Somatic					p.T1115I	NM_018023	NP_060493	WXS	Illumina GAIIx	Phase_I	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3539	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1115					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3344C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931652	0.52866	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22336	1.96	5.94	5.94	0.96194	.	0.523372	0.19797	N	0.105832	T	0.16938	0.0407	N	0.22421	0.69	0.23865	N	0.996626	B	0.34103	0.437	B	0.27500	0.08	T	0.18493	-1.0335	10	0.66056	D	0.02	-12.8255	18.5399	0.91024	0.0:1.0:0.0:0.0	.	1115	Q9ULM3	YETS2_HUMAN	I	1115	ENSP00000306983:T1115I	ENSP00000306983:T1115I	T	+	2	0	YEATS2	185000966	0.177000	0.23109	0.588000	0.28705	0.831000	0.47069	2.303000	0.43646	2.816000	0.96949	0.563000	0.77884	ACA		0.473	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		16	51	0	0	0	1	0	16	51					T	183518272	C	T	183518272	3	4	17	1	0	0	0	0	1	0	0	0	17469	478	17	2	3434	2	YEATS2	3	183518272	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	144762807	183518272	14504158	5	379											
PRSS12	8492	broad.mit.edu	37	4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr4:119229634T>C	ENST00000296498.3	-	8	1870	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	530	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408																																						uc003ica.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1588-1590)Act>Gct		Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.							293	247	263					4																	119229634		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119229634T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1588A>G	4.37:g.119229634T>C	ENSP00000296498:p.Thr530Ala		Somatic					p.T530A	NM_003619	NP_003610	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			7	1635	-			530			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1588A>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846091	0.71603	.	.	ENSG00000164099	ENST00000296498	T	0.30714	1.52	5.86	5.86	0.93980	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.136421	0.64402	D	0.000003	T	0.44871	0.1314	L	0.53249	1.67	0.51482	D	0.999922	D	0.55385	0.971	P	0.60286	0.872	T	0.30563	-0.9974	10	0.40728	T	0.16	.	11.1179	0.48270	0.1706:0.0:0.0:0.8294	.	530	P56730	NETR_HUMAN	A	530	ENSP00000296498:T530A	ENSP00000296498:T530A	T	-	1	0	PRSS12	119449082	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.899000	0.69846	2.237000	0.73441	0.528000	0.53228	ACT		0.408	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			3	124	0	0	0	1	0	3	124					C	119229634	T	C	119229634	3	2	17	1	0	0	0	0	1	0	0	0	12615	1667	58	3	1063	3	PRSS12	4	119229634	Missense_Mutation	SNP	T	TCGA-BJ-A28R-01A-11D-A16O-08		119229634	71924642	6	380											
ARID1B	57492	broad.mit.edu	37	6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr6:157525128C>A	ENST00000350026.5	+	18	4985	c.4984C>A	c.(4984-4986)Cag>Aag	p.Q1662K	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1675K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1662					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)		CAATCTCTCCCAGGTAAGCCA	0.438																																						uc003qqn.3																			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.(5143-5145)Cag>Aag		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							293	293	293					6																	157525128		2203	4296	6499	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.chr6:157525128C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4984C>A	6.37:g.157525128C>A	ENSP00000055163:p.Gln1662Lys		Somatic				ARID1B_uc003qqo.3_Missense_Mutation_p.Q1675K|ARID1B_uc003qqp.3_Missense_Mutation_p.Q1662K	p.Q1715K	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	5143	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1662					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5143C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02369	4.65;4.64;4.65;4.65;4.32	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	M	0.78049	2.395	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.72982	0.952;0.979;0.979	T	0.01021	-1.1478	10	0.72032	D	0.01	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1662;1675;1657	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1675;1662;1715;1657;1184	ENSP00000344546:Q1675K;ENSP00000055163:Q1662K;ENSP00000356116:Q1715K;ENSP00000275248:Q1657K;ENSP00000412835:Q1184K	ENSP00000275248:Q1657K	Q	+	1	0	ARID1B	157566820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.071000	0.71229	2.652000	0.90054	0.655000	0.94253	CAG		0.438	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	395	0	0	0	1	0	6	395					A	157525128	C	A	157525128	3	1	17	1	0	0	0	0	1	0	0	0	914	595	21	4	5097	4	ARID1B	6	157525128	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		157525128	13589939	7	381											
CCDC129	223075	broad.mit.edu	37	7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:31682443A>G	ENST00000407970.3	+	11	1497	c.1459A>G	c.(1459-1461)Agc>Ggc	p.S487G	CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G|CCDC129_ENST00000319386.3_Missense_Mutation_p.S339G|CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1537-1539)Agc>Ggc		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							108	108	108					7																	31682443		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682443A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1459A>G	7.37:g.31682443A>G	ENSP00000384416:p.Ser487Gly		Somatic				CCDC129_uc011kad.1_Missense_Mutation_p.S497G|CCDC129_uc003tcj.1_Missense_Mutation_p.S487G|CCDC129_uc003tci.1_Missense_Mutation_p.S338G|CCDC129_uc003tck.1_Missense_Mutation_p.S395G	p.S513G	NM_194300	NP_919276	WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			10	1549	+			487					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1537A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117320	0.20795	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.35048	1.33;1.67;1.67;1.41	5.85	3.46	0.39613	.	0.510961	0.20395	N	0.093176	T	0.31263	0.0791	M	0.61703	1.905	0.24045	N	0.996069	B;B;B;B	0.28552	0.058;0.215;0.215;0.058	B;B;B;B	0.29663	0.028;0.105;0.063;0.016	T	0.23048	-1.0199	10	0.28530	T	0.3	-1.0063	5.351	0.16036	0.7627:0.0:0.0828:0.1545	.	513;497;487;339	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	G	339;487;513;497;395	ENSP00000313062:S339G;ENSP00000384416:S487G;ENSP00000395835:S513G;ENSP00000387214:S395G	ENSP00000313062:S339G	S	+	1	0	CCDC129	31648968	0.846000	0.29590	0.682000	0.30024	0.268000	0.26511	1.866000	0.39489	0.463000	0.27118	0.477000	0.44152	AGC		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	162	0	0	0	1	0	3	162					G	31682443	A	G	31682443	3	3	17	1	0	0	0	0	1	0	0	0	2764	72	3	3	1497	3	CCDC129	7	31682443	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08		31682443	127456220	8	382											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	58	0	0	0	1	0	36	58					T	140453136	A	T	140453136	3	4	17	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08	108770693	140453136	18685527	9	383											
KCNV2	169522	broad.mit.edu	37	9	2718675	2718675	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:2718675C>T	ENST00000382082.3	+	1	1174	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	312					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687																																						uc003zho.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(934-936)ttC>ttT		Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.							43	47	46					9																	2718675		2203	4299	6502	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718675C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.936C>T	9.37:g.2718675C>T			Somatic					p.F312F	NM_133497	NP_598004	WXS	Illumina GAIIx	Phase_I	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	0	1150	+			312					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.936C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	6.956	0.546250	0.13312	.	.	ENSG00000168263	ENST00000423608	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.74741	0.3756	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73839	-0.3856	4	.	.	.	.	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	F	263	.	.	L	+	1	0	KCNV2	2708675	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.250000	0.51445	2.434000	0.82447	0.563000	0.77884	CTT		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		5	64	0	0	0	1	0	5	64					T	2718675	C	T	2718675	2	4	17	1	0	0	0	0	0	0	0	1	8095	912	32	2		2	KCNV2	9	2718675	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		2718675	138494756	10	384											
IFNE	338376	broad.mit.edu	37	9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:21481080C>G	ENST00000448696.3	-	1	1232	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	205					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413																																						uc003zpg.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(613-615)aGa>aCa		Homo sapiens interferon, epsilon (IFNE), mRNA.							91	93	92					9																	21481080		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481080C>G	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.614G>C	9.37:g.21481080C>G	ENSP00000418018:p.Arg205Thr		Somatic				MIR31HG_uc003zpe.2_Intron	p.R205T	NM_176891	NP_795372	WXS	Illumina GAIIx	Phase_I	Q86WN2	IFNE_HUMAN			0	1233	-			205						Missense_Mutation	SNP	ENST00000448696.3	37	c.614G>C	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578204	0.28180	.	.	ENSG00000184995	ENST00000448696	T	0.04706	3.57	4.9	1.17	0.20885	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.44390	-0.9331	9	0.87932	D	0	.	7.2139	0.25949	0.0:0.2582:0.0:0.7418	.	205	Q86WN2	IFNE_HUMAN	T	205	ENSP00000418018:R205T	ENSP00000418018:R205T	R	-	2	0	IFNE	21471080	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.371000	0.20450	0.083000	0.17047	-0.150000	0.13652	AGA		0.413	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		4	195	0	0	0	1	0	4	195					G	21481080	C	G	21481080	3	3	17	1	0	0	0	0	1	0	0	0	7547	913	32	4	16	4	IFNE	9	21481080	Missense_Mutation	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08	18762405	21481080	119732351	11	385											
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					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)	p.G810D(1)		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)			TTCTGCTCCGGCAAACATTTC	0.483																																						uc001ild.4																			1	Substitution - Missense(1)	p.G810D(2)	large_intestine(1)	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.(2428-2430)gGc>gAc		Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.							148	160	156					10																	12160774		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160774G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp		Somatic					p.G810D	NM_018706	NP_061176	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2528	+		Renal(717;0.228)	810					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2429G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	278	0	0	0	1	0	5	278					A	12160774	G	A	12160774	3	1	17	1	0	0	0	0	1	0	0	0	4500	1203	42	2	2487	2	DHTKD1	10	12160774	Missense_Mutation	SNP	G	TCGA-BJ-A28R-01A-11D-A16O-08		12160774	123373973	12	386											
PTPRO	5800	broad.mit.edu	37	12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr12:15713197T>C	ENST00000281171.4	+	17	3028	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000544244.1_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	900					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313																																						uc001rcv.2																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2698-2700)Tat>Cat		Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.		T	,HIS/TYR,,HIS/TYR,,HIS/TYR	1,4405	4.2+/-10.8	0,1,2202	184	168	173		,2698,,265,,265	5.4	1.0	12	dbSNP_134	173	0,8598		0,0,4299	no	intron,missense,intron,missense,intron,missense	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,83,,83,,83	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,,probably-damaging	,900/1217,,89/406,,89/406	15713197	1,13003	2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15713197T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2698T>C	12.37:g.15713197T>C	ENSP00000281171:p.Tyr900His		Somatic				PTPRO_uc001rcw.2_Intron|PTPRO_uc001rcx.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcy.2_Missense_Mutation_p.Y89H|PTPRO_uc001rcz.2_Intron|PTPRO_uc001rda.2_Intron	p.Y900H	NM_030667	NP_109592	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			16	3168	+		Hepatocellular(102;0.244)	900					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2698T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087730	0.76642	2.27E-4	0.0	ENSG00000151490	ENST00000281171;ENST00000442921;ENST00000445537	T;T;T	0.05139	3.49;3.62;3.62	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000261	T	0.14313	0.0346	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.10086	-1.0645	10	0.40728	T	0.16	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	900	Q16827	PTPRO_HUMAN	H	900;89;89	ENSP00000281171:Y900H;ENSP00000404188:Y89H;ENSP00000393449:Y89H	ENSP00000281171:Y900H	Y	+	1	0	PTPRO	15604464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.285000	0.76669	0.533000	0.62120	TAT		0.313	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			3	120	0	0	0	1	0	3	120					C	15713197	T	C	15713197	3	2	17	1	0	0	0	0	1	0	0	0	12809	1754	61	3	2764	3	PTPRO	12	15713197	Missense_Mutation	SNP	T	TCGA-BJ-A28R-01A-11D-A16O-08		15713197	118138698	13	387											
C16orf79	283870	broad.mit.edu	37	16	2260148	2260148	+	Silent	SNP	C	C	T	rs368580516		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:2260148C>T	ENST00000562360.1	-	3	314	c.315G>A	c.(313-315)gcG>gcA	p.A105A	BRICD5_ENST00000566018.1_Silent_p.A105A|RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Silent_p.A105A			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	105	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CGAACAGCACCGCCCAGCTGT	0.711													C|||	1	0.000199681	0	0	5008	,	,		16334	0		0	False		,,,				2504	0.001					uc010bsh.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(313-315)gcG>gcA		Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.		C		0,4386		0,0,2193	42	35	37		315	-11.1	0.4	16		37	1,8591		0,1,4295	no	coding-synonymous	C16orf79	NM_182563.3		0,1,6488	TT,TC,CC		0.0116,0.0,0.0077		105/229	2260148	1,12977	2193	4296	6489	SO:0001819	synonymous_variant	283870					integral to membrane		g.chr16:2260148C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"BRICHOS domain containing"	28309	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 79"	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.315G>A	16.37:g.2260148C>T			Somatic				C16orf79_uc002cpi.2_Silent_p.A105A	p.A105A	NM_182563	NP_872369	WXS	Illumina GAIIx	Phase_I	Q6PL45	CP079_HUMAN			2	550	-			105			BRICHOS.		C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.315G>A	CCDS10463.1																																																																																				0.711	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	9	0	0	0	1	0	7	9					T	2260148	C	T	2260148	2	4	17	1	0	0	0	0	0	0	0	1	1836	639	23	1		1	C16orf79	16	2260148	Silent	SNP	C	TCGA-BJ-A28R-01A-11D-A16O-08		2260148	88094605	14	388											
ATMIN	23300	broad.mit.edu	37	16	81078068	81078069	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078068_81078069AC>TG	ENST00000299575.4	+	4	1989_1990	c.1965_1966AC>TG	c.(1963-1968)gaACtt>gaTGtt	p.655_656EL>DV	ATMIN_ENST00000566488.1_Missense_Mutation_p.499_500EL>DV|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.499_500EL>DV	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	655					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCAT	0.505																																						uc002ffz.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1963-1968)gaactt>gaTGtt		Homo sapiens ATM interactor (ATMIN), mRNA.																																				SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078068_81078069AC>TG	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	Exception_encountered	16.37:g.81078068_81078069delinsTG	ENSP00000299575:p.E655_L656delinsDV		Somatic				ATMIN_uc002fga.2_Missense_Mutation_p.497_498EL>DV|ATMIN_uc010vnn.1_Missense_Mutation_p.426_427EL>DV|ATMIN_uc002fgb.1_Missense_Mutation_p.497_498EL>DV	p.655_656EL>DV	NM_015251	NP_056066	WXS	Illumina GAIIx	Phase_I	O43313	ATMIN_HUMAN			3	1983_1984	+			655					A8K4H8|Q68DC9	Missense_Mutation	DNP	ENST00000299575.4	37	c.1965_1966AC>TG	CCDS32494.1																																																																																				0.505	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	106	0	0	0	1	0	6	106					TG	81078069	AC	TG	81078068	3	4	17	1	0	0	0	0	1	0	0	0	1110	40	2	5	1979	5	ATMIN	16	81078068	Missense_Mutation	DNP	AC	TCGA-BJ-A28R-01A-11D-A16O-08	78817920	81078068	9276685	15	389											
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Peptidase S8.				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)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fhi.3																			1	Substitution - Nonsense(1)	p.S411*(2)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1231-1233)tCa>tGa		Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.							87	74	78					16																	84118642		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84118642G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1232C>G	16.37:g.84118642G>C	ENSP00000344223:p.Ser411*		Somatic	OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1226		p.S411*	NM_003791	NP_003782	WXS	Illumina GAIIx	Phase_I	Q14703	MBTP1_HUMAN			9	1734	-			411			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.1232C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	44	10.654229	0.99445	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6862	19.3469	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000344223:S411X	S	-	2	0	MBTPS1	82676143	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	TCA		0.602	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		3	64	0	0	0	1	0	3	64					C	84118642	G	C	84118642	4	2	17	1	0	0	0	0	0	1	0	0	9361	1294	45	4	1982	4	MBTPS1	16	84118642	Nonsense_Mutation	SNP	G	TCGA-BJ-A28R-01A-11D-A16O-08	3040574	84118642	6236111	16	390											
C17orf87	388325	broad.mit.edu	37	17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr17:5126666A>G	ENST00000574081.1	-	2	211	c.107T>C	c.(106-108)cTc>cCc	p.L36P	SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	36					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GTACAGGATGAGGCCCAGACC	0.512																																						uc002gbh.2																			0											c.(106-108)cTc>cCc		Homo sapiens SLP adaptor and CSK interacting membrane protein (SCIMP), mRNA.							323	306	311					17																	5126666		2086	4218	6304	SO:0001583	missense	388325					integral to membrane		g.chr17:5126666A>G	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"SLP65/SLP76, Csk-interacting membrane protein"	614406	"chromosome 17 open reading frame 87"	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.107T>C	17.37:g.5126666A>G	ENSP00000461269:p.Leu36Pro		Somatic				LOC100130950_uc002gbf.2_Non-coding_Transcript|LOC100130950_uc002gbg.2_Non-coding_Transcript|SCIMP_uc010clb.1_Missense_Mutation_p.L36P|SCIMP_uc002gbi.2_Missense_Mutation_p.L36P	p.L36P	NM_207103	NP_996986	WXS	Illumina GAIIx	Phase_I	Q6UWF3	CQ087_HUMAN			1	140	-			36					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.107T>C	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.254064	0.59212	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.53	4.45	0.53987	.	0.649988	0.14397	N	0.322169	T	0.68393	0.2996	L	0.55481	1.735	0.37220	D	0.905221	D;D;D	0.76494	0.99;0.999;0.99	P;D;D	0.68943	0.875;0.961;0.925	T	0.70605	-0.4826	9	0.87932	D	0	-4.6159	8.5126	0.33226	0.9119:0.0:0.0881:0.0	.	36;36;36	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	P	36;25	.	ENSP00000382501:L25P	L	-	2	0	C17orf87	5067390	0.402000	0.25311	0.926000	0.36857	0.900000	0.52787	2.579000	0.46059	1.044000	0.40200	0.533000	0.62120	CTC		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		5	381	0	0	0	1	0	5	381					G	5126666	A	G	5126666	3	3	17	1	0	0	0	0	1	0	0	0	1889	304	11	3	346	3	C17orf87	17	5126666	Missense_Mutation	SNP	A	TCGA-BJ-A28R-01A-11D-A16O-08		5126666	76068544	17	391											
MEGF6	1953	broad.mit.edu	37	1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687																																					Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1177-1179)tAc>tGc		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							44	55	51					1																	3427403		2154	4245	6399	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427403T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1178A>G	1.37:g.3427403T>C	ENSP00000348982:p.Tyr393Cys		Somatic				MEGF6_uc001akk.3_Missense_Mutation_p.Y288C	p.Y393C	NM_001409	NP_001400	WXS	Illumina GAIIx	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	9	1405	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	393			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1178A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920882	0.73213	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88664	-2.41;-2.41	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.96547	3.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.59425	D	0.04	-45.6001	13.478	0.61320	0.0:0.0:0.0:1.0	.	393;288	O75095;O75095-2	MEGF6_HUMAN;.	C	288;393	ENSP00000294599:Y288C;ENSP00000348982:Y393C	ENSP00000294599:Y288C	Y	-	2	0	MEGF6	3417263	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.080000	0.57620	1.655000	0.50712	0.379000	0.24179	TAC		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		58	79	0	0	0	1	0	58	79					C	3427403	T	C	3427403	3	2	18	1	0	0	0	0	1	0	0	0	9462	1638	57	3	3559	3	MEGF6	1	3427403	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		3427403	245823218	1	392											
EIF2C1	26523	broad.mit.edu	37	1	36381032	36381032	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:36381032C>T	ENST00000373204.4	+	15	2130	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	AGO1_ENST00000373206.1_Silent_p.D564D	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	639	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCATTGAAGACTTGTCCTACA	0.547																																						uc001bzl.3																			0				biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36						c.(1915-1917)gaC>gaT		Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.							187	149	162					1																	36381032		2203	4300	6503	SO:0001819	synonymous_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding	g.chr1:36381032C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1917C>T	1.37:g.36381032C>T			Somatic				EIF2C1_uc001bzk.3_Silent_p.D564D|EIF2C1_uc009vuy.3_Non-coding_Transcript	p.D639D	NM_012199	NP_036331	WXS	Illumina GAIIx	Phase_I	Q9UL18	AGO1_HUMAN			14	2130	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	639			Piwi.		Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.1917C>T	CCDS398.1																																																																																				0.547	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			20	142	0	0	0	1	0	20	142					T	36381032	C	T	36381032	2	4	18	1	0	0	0	0	0	0	0	1	5005	564	20	2		2	EIF2C1	1	36381032	Silent	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08	32953629	36381032	212869589	2	393											
RBM6	10180	broad.mit.edu	37	3	50004962	50004962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:50004962delT	ENST00000266022.4	+	3	363	c.104delT	c.(103-105)cttfs	p.L35fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	35					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTCCTCCCCTTAAGAGTCAT	0.483																																						uc003cyc.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(103-105)cttfs		Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.							100	105	103					3																	50004962		2203	4300	6503	SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding	g.chr3:50004962delT	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.104delT	3.37:g.50004962delT	ENSP00000266022:p.Leu35fs		Somatic				RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	p.L35fs	NM_005777	NP_001161054	WXS	Illumina GAIIx	Phase_I	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	2	352	+			35					O60549|O75524|Q86SS3	Frame_Shift_Del	DEL	ENST00000266022.4	37	c.104delT	CCDS2809.1																																																																																				0.483	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		72	107						72	107	---	---	---	---	-	50004962	T	-	50004962	7	5	18	1	0	1	0	1	0	0	0	0	13144	1609	56	0	110	0	RBM6	3	50004962	Frame_Shift_Del	DEL	T	TCGA-BJ-A28S-01A-11D-A19J-08		50004962	148017468	3	394											
ATR	545	broad.mit.edu	37	3	142268455	142268455	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:142268455G>C	ENST00000350721.4	-	15	3158	c.3037C>G	c.(3037-3039)Ctc>Gtc	p.L1013V	ATR_ENST00000383101.3_Missense_Mutation_p.L949V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1013					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCGAATGAGAGCAGAAGCT	0.343								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3037-3039)Ctc>Gtc	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							52	54	53					3																	142268455		2202	4298	6500	SO:0001583	missense	545				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268455G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3037C>G	3.37:g.142268455G>C	ENSP00000343741:p.Leu1013Val		Somatic					p.L1013V	NM_001184	NP_001175	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			14	3159	-			1013					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.3037C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689341	0.48097	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.64085	-0.08;-0.08	5.59	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.139502	0.49305	D	0.000142	T	0.47911	0.1471	N	0.24115	0.695	0.53005	D	0.999962	B	0.19817	0.039	B	0.17433	0.018	T	0.36311	-0.9753	10	0.30854	T	0.27	-5.0346	13.659	0.62354	0.0:0.0:0.8328:0.1672	.	1013	Q13535	ATR_HUMAN	V	1013;949	ENSP00000343741:L1013V;ENSP00000372581:L949V	ENSP00000343741:L1013V	L	-	1	0	ATR	143751145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.173000	0.71937	1.294000	0.44707	0.655000	0.94253	CTC		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		27	50	0	0	0	1	0	27	50					C	142268455	G	C	142268455	3	2	18	1	0	0	0	0	1	0	0	0	1204	942	33	4	5029	4	ATR	3	142268455	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	92263493	142268455	55753975	4	395											
TNXB	7148	broad.mit.edu	37	6	32021216	32021216	+	Missense_Mutation	SNP	C	C	A	rs200708257	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32021216C>A	ENST00000375244.3	-	25	8941	c.8740G>T	c.(8740-8742)Ggc>Tgc	p.G2914C	TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C			P22105	TENX_HUMAN	tenascin XB	2961	Fibronectin type-III 21. {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						CCGTGGAAGCCGTACAGGTTC	0.657																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8734-8736)Ggc>Tgc		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							48	50	49					6																	32021216		1244	2559	3803	SO:0001583	missense	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.chr6:32021216C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8740G>T	6.37:g.32021216C>A	ENSP00000364393:p.Gly2914Cys		Somatic					p.G2912C	NM_019105	NP_061978	WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			24	8936	-			2961			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8734G>T		.	.	.	.	.	.	.	.	.	.	c	19.54	3.847474	0.71603	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.39	4.39	0.52855	.	.	.	.	.	T	0.75810	0.3900	H	0.95816	3.725	0.37252	D	0.906608	D	0.89917	1.0	D	0.97110	1.0	D	0.84426	0.0574	9	0.87932	D	0	.	13.8893	0.63729	0.0:1.0:0.0:0.0	.	2912	P22105-3	.	C	2914;2912	ENSP00000364393:G2914C;ENSP00000364396:G2912C	ENSP00000364393:G2914C	G	-	1	0	TNXB	32129194	0.961000	0.32948	0.989000	0.46669	0.827000	0.46813	5.079000	0.64431	1.989000	0.58080	0.543000	0.68304	GGC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	97	0	0	0	1	0	4	97					A	32021216	C	A	32021216	3	1	18	1	0	0	0	0	1	0	0	0	16343	652	23	4	6059	4	TNXB	6	32021216	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		32021216	139093851	5	396											
LAMA4	3910	broad.mit.edu	37	6	112479970	112479970	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:112479970G>T	ENST00000230538.7	-	14	2178	c.1781C>A	c.(1780-1782)gCa>gAa	p.A594E	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	594	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGGTCCTGTGCATGGTCAAT	0.343																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1780-1782)gCa>gAa		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							203	184	190					6																	112479970		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112479970G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1781C>A	6.37:g.112479970G>T	ENSP00000230538:p.Ala594Glu		Somatic				LAMA4_uc003pvv.2_Missense_Mutation_p.A587E|LAMA4_uc003pvt.2_Missense_Mutation_p.A587E	p.A594E	NM_001105206	NP_001098676	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	2090	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	594			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1781C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358164	0.82243	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.56444	0.5;0.46;0.46;0.46	5.68	5.68	0.88126	.	0.096863	0.64402	D	0.000001	T	0.54759	0.1878	L	0.59436	1.845	0.80722	D	1	P;D	0.53462	0.933;0.96	P;P	0.52856	0.518;0.711	T	0.59418	-0.7458	10	0.87932	D	0	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	594;587	Q16363;Q16363-2	LAMA4_HUMAN;.	E	594;587;587;587	ENSP00000230538:A594E;ENSP00000429488:A587E;ENSP00000374114:A587E;ENSP00000416470:A587E	ENSP00000230538:A594E	A	-	2	0	LAMA4	112586663	1.000000	0.71417	0.958000	0.39756	0.709000	0.40893	5.650000	0.67944	2.668000	0.90789	0.591000	0.81541	GCA		0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		45	74	0	0	0	1	0	45	74					T	112479970	G	T	112479970	3	4	18	1	0	0	0	0	1	0	0	0	8608	1319	46	4	3794	4	LAMA4	6	112479970	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	80458754	112479970	58635097	6	397											
SP4	6671	broad.mit.edu	37	7	21469309	21469309	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:21469309G>C	ENST00000222584.3	+	3	744	c.526G>C	c.(526-528)Ggt>Cgt	p.G176R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	176					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GACAGTGGAAGGTCAACAAAT	0.388																																						uc003sva.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(526-528)Ggt>Cgt		Homo sapiens Sp4 transcription factor (SP4), mRNA.							77	74	75					7																	21469309		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469309G>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.526G>C	7.37:g.21469309G>C	ENSP00000222584:p.Gly176Arg		Somatic				SP4_uc003svb.3_5'UTR	p.G176R	NM_003112	NP_003103	WXS	Illumina GAIIx	Phase_I	Q02446	SP4_HUMAN			2	707	+			176					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.526G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324825	0.60634	.	.	ENSG00000105866	ENST00000222584	T	0.28069	1.63	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63853	-0.6543	10	0.59425	D	0.04	.	16.8705	0.86039	0.0:0.0:1.0:0.0	.	176	Q02446	SP4_HUMAN	R	176	ENSP00000222584:G176R	ENSP00000222584:G176R	G	+	1	0	SP4	21435834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.243000	0.72384	2.197000	0.70478	0.655000	0.94253	GGT		0.388	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	110	0	0	0	1	0	6	110					C	21469309	G	C	21469309	3	2	18	1	0	0	0	0	1	0	0	0	14966	1000	35	4	536	4	SP4	7	21469309	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		21469309	137669354	7	398											
RABGEF1	27342	broad.mit.edu	37	7	66262494	66262494	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:66262494G>A	ENST00000284957.5	+	6	805		c.e6+1		KCTD7_ENST00000510829.2_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site|RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site|KCTD7_ENST00000380828.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|KCTD7_ENST00000451741.2_Splice_Site			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAGAATCAGGTAGTTGCTTA	0.363																																						uc011kee.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						c.e6+1		Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							59	56	57					7																	66262494		2203	4300	6503	SO:0001630	splice_region_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66262494G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.728+1G>A	7.37:g.66262494G>A			Somatic				RABGEF1_uc003tvf.3_Splice_Site_p.R116_splice|RABGEF1_uc003tvg.3_Splice_Site_p.R51_splice|RABGEF1_uc003tvh.3_Splice_Site_p.R243_splice|RABGEF1_uc010lag.3_Splice_Site_p.R243_splice|RABGEF1_uc003tvi.3_Splice_Site_p.R77_splice	p.R257_splice	NM_014504	NP_055319	WXS	Illumina GAIIx	Phase_I	Q9UJ41	RABX5_HUMAN			6	934	+			460					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Splice_Site	SNP	ENST00000284957.5	37	c.770_splice	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013187	0.75161	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7712	0.88493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGEF1;KCTD7	65899929	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	9.386000	0.97228	2.494000	0.84150	0.551000	0.68910	.		0.363	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	Intron	4	85	0	0	0	1	0	4	85					A	66262494	G	A	66262494	5	1	18	1	0	0	0	0	0	0	1	0	12966	1275	44	2	747	2	RABGEF1	7	66262494	Splice_Site	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	44793185	66262494	92876169	8	399											
BRAF	673	broad.mit.edu	37	7	140453140	140453193	+	In_Frame_Ins	INS	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	rs121913370|rs121913336|rs121913337|rs397507483|rs121913363|rs397507482|rs121913340|rs121913341|rs121913366|rs121913338|rs121913361|rs121913362|rs55939351|rs121913225|rs397516895|rs397516896|rs121913368|rs121913369|rs121913335		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:140453140_140453193insTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	ENST00000288602.6	-	15	1802_1855	c.1742_1795insATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTA	c.(1741-1797)aatatatttcttcatgaagacctcacagtaaaaataggtgattttggtctagcATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAtaca>aatatatttcttcatgaagacctcacagtaaaaataggtgattttggtctagcaATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAtatatttcttcatgaagacctcacagtaaaaataggtgattttggtctagctataca	p.599_599T>IYFFMKTSQ*K*VILV*LIYFFMKTSQ*K*VILV*LYISS*RPHSKNR*FWSSYT		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> R (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D594G(35)|p.L597R(14)|p.L597V(11)|p.D594N(9)|p.L597S(9)|p.N581S(9)|p.F595L(8)|p.L597Q(8)|p.A598_T599insV(6)|p.G596R(6)|p.E586E(4)|p.I592M(4)|p.F583F(4)|p.A598V(4)|p.L597L(3)|p.F595S(3)|p.D594V(3)|p.E586K(3)|p.L584L(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.L584F(2)|p.I582M(2)|p.D587E(2)|p.D594D(1)|p.K591R(1)|p.N581I(1)|p.H585H(1)|p.G596fs*2(1)|p.D587N(1)|p.V590I(1)|p.D587A(1)|p.A598T(1)|p.G593D(1)|p.T589I(1)|p.V590fs*3(1)|p.L588R(1)|p.L588P(1)|p.V590V(1)|p.G593S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GATTTCACTGTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATCTGAGGTGTA	0.354	G596R(NCIH508_LARGE_INTESTINE)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	G596R(NCIH508_LARGE_INTESTINE)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	176	Substitution - Missense(151)|Substitution - coding silent(17)|Insertion - In frame(6)|Deletion - Frameshift(2)	p.D594G(35)|p.L597R(14)|p.L597V(11)|p.D594N(9)|p.L597S(9)|p.N581S(9)|p.F595L(8)|p.L597Q(8)|p.A598_T599insV(6)|p.G596R(6)|p.E586E(4)|p.I592M(4)|p.F583F(4)|p.A598V(4)|p.L597L(3)|p.F595S(3)|p.D594V(3)|p.E586K(3)|p.L584L(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.L584F(2)|p.I582M(2)|p.D587E(2)|p.D594D(1)|p.K591R(1)|p.N581I(1)|p.H585H(1)|p.G596fs*2(1)|p.D587N(1)|p.V590I(1)|p.D587A(1)|p.A598T(1)|p.G593D(1)|p.T589I(1)|p.V590fs*3(1)|p.L588R(1)|p.L588P(1)|p.V590V(1)|p.G593S(1)	skin(78)|large_intestine(35)|lung(21)|thyroid(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(7)|cervix(3)|endometrium(3)|biliary_tract(2)|stomach(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|central_nervous_system(1)|salivary_gland(1)|kidney(1)|prostate(1)|bone(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060877|CM060882|CM080112	BRAF	M	rs121913341	c.e15-1		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)																																			SO:0001652	inframe_insertion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453140_140453193TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT>TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1742_1795insATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTA	7.37:g.140453140_140453193insTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	ENSP00000288602:p.Thr599delinsIleTyrPhePheMetLysThrSerGln*Lys*ValIleLeuVal*LeuIleTyrPhePheMetLysThrSerGln*Lys*ValIleLeuVal*LeuTyrIleSerSer*ArgProHisSerLysAsnArg*PheTrpSerSerTyrThr		Somatic					p.N581_splice	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			15	1803	-	Melanoma(164;0.00956)		581		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Splice_Site	INS	ENST00000288602.6	37	c.1742_splice	CCDS5863.1																																																																																				0.354	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	135						35	135	---	---	---	---	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	140453193	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	140453140	7	5	18	1	0	1	1	0	0	0	0	0	1496	1638	57	0	521	0	BRAF	7	140453140	In_Frame_Ins	INS	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TCGA-BJ-A28S-01A-11D-A19J-08	74190646	140453140	18685523	9	400											
C8orf34	116328	broad.mit.edu	37	8	69434071	69434071	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr8:69434071G>A	ENST00000539993.1	+	6	1094	c.545G>A	c.(544-546)cGt>cAt	p.R182H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R157H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	182								p.R157H(1)|p.R182H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGAGGCCCCGTGTGATTGGA	0.413																																						uc010lyz.3																			2	Substitution - Missense(2)	p.R157H(1)|p.R182H(1)	endometrium(2)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(802-804)cGt>cAt		Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.							87	84	85					8																	69434071		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434071G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.545G>A	8.37:g.69434071G>A	ENSP00000438159:p.Arg182His		Somatic				C8orf34_uc010lyy.2_Missense_Mutation_p.R268H|C8orf34_uc003xyb.3_Missense_Mutation_p.R157H	p.R268H	NM_052958	NP_443190	WXS	Illumina GAIIx	Phase_I	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	1094	+			182					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.803G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.072284	0.93950	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.51817	0.69;0.73;0.71	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.57536	1.79	0.45867	D	0.998728	D;D	0.89917	1.0;1.0	D;D	0.83275	0.938;0.996	T	0.63418	-0.6642	9	.	.	.	-11.9929	19.6482	0.95790	0.0:0.0:1.0:0.0	.	182;182	Q49A92;Q49A92-3	CH034_HUMAN;.	H	268;182;182;157	ENSP00000427820:R268H;ENSP00000438159:R182H;ENSP00000337174:R157H	.	R	+	2	0	C8orf34	69596625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.365000	0.90108	2.696000	0.92011	0.655000	0.94253	CGT		0.413	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		28	44	0	0	0	1	0	28	44					A	69434071	G	A	69434071	3	1	18	1	0	0	0	0	1	0	0	0	2422	1145	40	1	488	1	C8orf34	8	69434071	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		69434071	76929951	10	401											
GALNT12	79695	broad.mit.edu	37	9	101589093	101589093	+	Missense_Mutation	SNP	C	C	A	rs372616005		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:101589093C>A	ENST00000375011.3	+	3	601	c.601C>A	c.(601-603)Cgc>Agc	p.R201S		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	201	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCGCCTGATCCGCGCCAACAA	0.627																																						uc004ayz.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(601-603)Cgc>Agc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.							39	37	37					9																	101589093		2203	4299	6502	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101589093C>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.601C>A	9.37:g.101589093C>A	ENSP00000364150:p.Arg201Ser		Somatic					p.R201S	NM_024642	NP_078918	WXS	Illumina GAIIx	Phase_I	Q8IXK2	GLT12_HUMAN			2	601	+		Acute lymphoblastic leukemia(62;0.0559)	201			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.601C>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667262	0.96745	.	.	ENSG00000119514	ENST00000375011	T	0.64260	-0.09	5.96	5.96	0.96718	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.84433	2.695	0.80722	D	1	D	0.63046	0.992	P	0.57846	0.828	T	0.82131	-0.0609	10	0.87932	D	0	.	17.902	0.88907	0.0:1.0:0.0:0.0	.	201	Q8IXK2	GLT12_HUMAN	S	201	ENSP00000364150:R201S	ENSP00000364150:R201S	R	+	1	0	GALNT12	100628914	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	5.942000	0.70203	2.814000	0.96858	0.655000	0.94253	CGC		0.627	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		3	40	0	0	0	1	0	3	40					A	101589093	C	A	101589093	3	1	18	1	0	0	0	0	1	0	0	0	6210	652	23	4	611	4	GALNT12	9	101589093	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		101589093	39624338	11	402											
SVIL	6840	broad.mit.edu	37	10	29773738	29773738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:29773738delC	ENST00000355867.4	-	27	5554	c.4802delG	c.(4801-4803)agtfs	p.S1601fs	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1601	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAAACTTCACTACCAAAATC	0.403																																						uc001iut.1																			0		p.S1601S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4801-4803)agtfs		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							104	91	95					10																	29773738		2203	4300	6503	SO:0001589	frameshift_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29773738delC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4802delG	10.37:g.29773738delC	ENSP00000348128:p.Ser1601fs		Somatic				LOC387647_uc001iup.3_Non-coding_Transcript|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.S515fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.S1175fs|SVIL_uc009xlc.2_Frame_Shift_Del_p.S393fs	p.S1601fs	NM_021738	NP_068506	WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			26	5555	-		Breast(68;0.103)	1601			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	c.4802delG	CCDS7164.1																																																																																				0.403	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			37	62						37	62	---	---	---	---	-	29773738	C	-	29773738	7	5	18	1	0	1	0	1	0	0	0	0	15418	565	20	0	1890	0	SVIL	10	29773738	Frame_Shift_Del	DEL	C	TCGA-BJ-A28S-01A-11D-A19J-08		29773738	105761009	12	403											
MYOF	26509	broad.mit.edu	37	10	95121253	95121253	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:95121253T>C	ENST00000359263.4	-	28	2929	c.2930A>G	c.(2929-2931)gAt>gGt	p.D977G	MYOF_ENST00000371501.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	977					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						CCATGCATCATCTTCCCATTC	0.458																																						uc001kin.3																			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.(2929-2931)gAt>gGt		Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.							207	204	205					10																	95121253		2011	4190	6201	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.chr10:95121253T>C	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2930A>G	10.37:g.95121253T>C	ENSP00000352208:p.Asp977Gly		Somatic				MYOF_uc001kio.3_Missense_Mutation_p.D964G|MYOF_uc009xue.3_Non-coding_Transcript	p.D977G	NM_013451	NP_038479	WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			27	3053	-			977					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.2930A>G	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111814	0.77210	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83250	-1.7;-1.69;-1.69;-1.69	5.81	5.81	0.92471	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	L	0.45698	1.435	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.87031	0.2135	10	0.36615	T	0.2	-24.3735	16.1773	0.81862	0.0:0.0:0.0:1.0	.	964;977	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	G	964;977;977;977	ENSP00000351094:D964G;ENSP00000352208:D977G;ENSP00000360556:D977G;ENSP00000360557:D977G	ENSP00000351094:D964G	D	-	2	0	MYOF	95111243	1.000000	0.71417	0.991000	0.47740	0.552000	0.35366	7.683000	0.84093	2.217000	0.71921	0.482000	0.46254	GAT		0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		73	107	0	0	0	1	0	73	107					C	95121253	T	C	95121253	3	2	18	1	0	0	0	0	1	0	0	0	10089	1435	50	3	3363	3	MYOF	10	95121253	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08	65347515	95121253	40413494	13	404											
CCKBR	887	broad.mit.edu	37	11	6292023	6292023	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:6292023C>T	ENST00000334619.2	+	4	994	c.801C>T	c.(799-801)ggC>ggT	p.G267G	CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000525462.1_Silent_p.G267G	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	267					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAAACCAAGGCGGGCTGCCAG	0.632																																						uc001mcs.3																			0		p.G267V(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(799-801)ggC>ggT		Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	Pentagastrin(DB00183)						48	46	46					11																	6292023		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292023C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.801C>T	11.37:g.6292023C>T			Somatic				CCKBR_uc001mcp.3_Silent_p.G267G|CCKBR_uc001mcq.3_Silent_p.G195G|CCKBR_uc001mcr.3_Silent_p.G267G|CCKBR_uc001mct.1_Non-coding_Transcript	p.G267G	NM_176875	NP_795344	WXS	Illumina GAIIx	Phase_I	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	1056	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	218					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.801C>T	CCDS7761.1																																																																																				0.632	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		5	73	0	0	0	1	0	5	73					T	6292023	C	T	6292023	2	4	18	1	0	0	0	0	0	0	0	1	2881	755	27	1		1	CCKBR	11	6292023	Silent	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		6292023	128714493	14	405											
FADS1	3992	broad.mit.edu	37	11	61570928	61570928	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:61570928G>A	ENST00000350997.7	-	9	1387	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	FADS1_ENST00000433932.1_Silent_p.F244F|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000460649.1_Silent_p.F30F|FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000536991.1_Silent_p.F76F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	328					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTTCCAGGAACCTGTTAG	0.478																																						uc010rlm.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(1153-1155)ttC>ttT		Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						185	182	183					11																	61570928		1963	4191	6154	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61570928G>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"Fatty acid desaturases"	3574	protein-coding gene	gene with protein product	"delta-5 desaturase"	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1155C>T	11.37:g.61570928G>A			Somatic				FADS1_uc001nsh.3_Silent_p.F244F	p.F385F	NM_013402	NP_037534	WXS	Illumina GAIIx	Phase_I	O60427	FADS1_HUMAN			8	1283	-			328					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.1155C>T	CCDS8011.2																																																																																				0.478	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		10	316	0	0	0	1	0	10	316					A	61570928	G	A	61570928	2	1	18	1	0	0	0	0	0	0	0	1	5365	1165	41	2		2	FADS1	11	61570928	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	55278905	61570928	73435588	15	406											
ITPR2	3709	broad.mit.edu	37	12	26784809	26784809	+	Missense_Mutation	SNP	T	T	A	rs187811112	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:26784809T>A	ENST00000381340.3	-	22	3340	c.2924A>T	c.(2923-2925)gAg>gTg	p.E975V	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'Flank	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	975					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)	CTGCAAAATCTCAATGATCTT	0.473																																						uc001rhg.3																		ETV6/ITPR2(2)	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.(2923-2925)gAg>gTg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							103	109	107					12																	26784809		2059	4193	6252	SO:0001583	missense	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.chr12:26784809T>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2924A>T	12.37:g.26784809T>A	ENSP00000370744:p.Glu975Val		Somatic					p.E975V	NM_002223	NP_002214	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			21	3341	-	Colorectal(261;0.0847)		975					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2924A>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762721	0.89932	.	.	ENSG00000123104	ENST00000381340	D	0.95447	-3.71	5.07	5.07	0.68467	.	0.098343	0.64402	D	0.000002	D	0.96830	0.8965	M	0.87180	2.865	0.80722	D	1	P	0.44521	0.837	P	0.49999	0.628	D	0.97216	0.9874	10	0.56958	D	0.05	.	14.9902	0.71381	0.0:0.0:0.0:1.0	.	975	Q14571	ITPR2_HUMAN	V	975	ENSP00000370744:E975V	ENSP00000370744:E975V	E	-	2	0	ITPR2	26676076	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.314000	0.78988	2.139000	0.66308	0.533000	0.62120	GAG		0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	150	0	0	0	1	0	6	150					A	26784809	T	A	26784809	3	1	18	1	0	0	0	0	1	0	0	0	7921	1551	54	5	5325	5	ITPR2	12	26784809	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		26784809	107067086	16	407											
ESPL1	9700	broad.mit.edu	37	12	53670431	53670431	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:53670431G>T	ENST00000257934.4	+	8	1819	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	576					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCAGTGGCTGGGACCCGGAGA	0.632																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1726-1728)tgG>tgT		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							18	18	18					12																	53670431		2198	4287	6485	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53670431G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1728G>T	12.37:g.53670431G>T	ENSP00000257934:p.Trp576Cys		Somatic				ESPL1_uc001scj.2_Missense_Mutation_p.W251C	p.W576C	NM_012291	NP_036423	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			7	1819	+			576						Missense_Mutation	SNP	ENST00000257934.4	37	c.1728G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705563	0.48412	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12465	2.68;2.68	5.39	5.39	0.77823	.	0.244102	0.40385	N	0.001108	T	0.30262	0.0759	M	0.68317	2.08	0.45477	D	0.998448	D	0.76494	0.999	P	0.58820	0.846	T	0.00277	-1.1854	10	0.39692	T	0.17	.	14.2893	0.66265	0.0:0.1498:0.8502:0.0	.	576	Q14674	ESPL1_HUMAN	C	576;251;576	ENSP00000257934:W576C;ENSP00000449831:W576C	ENSP00000257934:W576C	W	+	3	0	ESPL1	51956698	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.466000	0.35310	2.808000	0.96608	0.655000	0.94253	TGG		0.632	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		17	29	0	0	0	1	0	17	29					T	53670431	G	T	53670431	3	4	18	1	0	0	0	0	1	0	0	0	5253	1241	43	4	1754	4	ESPL1	12	53670431	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	26885622	53670431	80181464	17	408											
KSR2	283455	broad.mit.edu	37	12	117922266	117922266	+	Missense_Mutation	SNP	G	G	A	rs563602140		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:117922266G>A	ENST00000339824.5	-	16	3132	c.2405C>T	c.(2404-2406)aCg>aTg	p.T802M	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.T773M			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T834M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAGTCCGTGATGACCAC	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		19917	0		0	False		,,,				2504	0					uc001two.2																			1	Substitution - Missense(1)	p.T834M(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2317-2319)aCg>aTg		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							96	99	98					12																	117922266		2020	4190	6210	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117922266G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2405C>T	12.37:g.117922266G>A	ENSP00000339952:p.Thr802Met		Somatic					p.T773M	NM_173598	NP_775869	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			15	2373	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		802			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2318C>T		.	.	.	.	.	.	.	.	.	.	G	29.4	5.000619	0.93227	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.72032	D	0.01	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	802	Q6VAB6	KSR2_HUMAN	M	773;802	ENSP00000389715:T773M;ENSP00000339952:T802M	ENSP00000339952:T802M	T	-	2	0	KSR2	116406649	1.000000	0.71417	0.965000	0.40720	0.948000	0.59901	9.837000	0.99465	2.612000	0.88384	0.655000	0.94253	ACG		0.542	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	60	0	0	0	1	0	7	60					A	117922266	G	A	117922266	3	1	18	1	0	0	0	0	1	0	0	0	8582	1145	40	1	467	1	KSR2	12	117922266	Missense_Mutation	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	64251835	117922266	15929629	18	409											
NDFIP2	54602	broad.mit.edu	37	13	80107511	80107511	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:80107511A>T	ENST00000218652.7	+	3	593	c.541A>T	c.(541-543)Acc>Tcc	p.T181S		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	181					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TAGCGTTGCTACCTCTCTTCC	0.383																																						uc001vlf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(541-543)Acc>Tcc		Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA.							72	68	69					13																	80107511		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	WW domain binding|signal transducer activity	g.chr13:80107511A>T	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.541A>T	13.37:g.80107511A>T	ENSP00000218652:p.Thr181Ser		Somatic				NDFIP2_uc010tib.2_Missense_Mutation_p.T181S|NDFIP2_uc001vlg.3_Non-coding_Transcript	p.T181S	NM_019080	NP_061953	WXS	Illumina GAIIx	Phase_I	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	2	621	+		Acute lymphoblastic leukemia(28;0.205)	181					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.541A>T	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924241	0.92319	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.39406	1.25;1.08	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.72894	2.215	0.58432	D	0.999999	P;P	0.52692	0.955;0.923	P;P	0.54544	0.755;0.755	T	0.57871	-0.7736	10	0.42905	T	0.14	-11.0901	14.5939	0.68392	1.0:0.0:0.0:0.0	.	87;181	B4DGY6;Q9NV92	.;NFIP2_HUMAN	S	181;98	ENSP00000218652:T181S;ENSP00000419200:T98S	ENSP00000218652:T181S	T	+	1	0	NDFIP2	79005512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.334000	0.90028	2.101000	0.63845	0.477000	0.44152	ACC		0.383	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			35	58	0	0	0	1	0	35	58					T	80107511	A	T	80107511	3	4	18	1	0	0	0	0	1	0	0	0	10246	391	14	5	551	5	NDFIP2	13	80107511	Missense_Mutation	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		80107511	35062367	19	410											
MSLNL	401827	broad.mit.edu	37	16	824957	824957	+	Missense_Mutation	SNP	C	C	T	rs369732940		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr16:824957C>T	ENST00000442466.1	-	6	561	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	MSLNL_ENST00000293892.3_Missense_Mutation_p.A539T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	188					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATGCTGGACGCGTCCATGTCA	0.716																																						uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(1615-1617)Gcg>Acg		Homo sapiens mesothelin-like (MSLNL), mRNA.			THR/ALA	0,4124		0,0,2062	21	24	23		1615	2.0	0.3	16		23	1,8337		0,1,4168	no	missense	MSLNL	NM_001025190.1	58	0,1,6230	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	539/1054	824957	1,12461	2062	4169	6231	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:824957C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.562G>A	16.37:g.824957C>T	ENSP00000415767:p.Ala188Thr		Somatic					p.A539T	NM_001025190	NP_001020361	WXS	Illumina GAIIx	Phase_I	Q96KJ4	MSLNL_HUMAN			6	1615	-			188						Missense_Mutation	SNP	ENST00000442466.1	37	c.1615G>A		.	.	.	.	.	.	.	.	.	.	c	13.61	2.287377	0.40494	0.0	1.2E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11495	2.77;2.77;2.77	4.1	1.95	0.26073	.	0.416661	0.22018	N	0.065766	T	0.12689	0.0308	.	.	.	0.21579	N	0.999639	P	0.44521	0.837	P	0.45037	0.467	T	0.08046	-1.0741	9	0.51188	T	0.08	-14.1409	10.8934	0.47008	0.0:0.4533:0.5466:0.0	.	188	Q96KJ4	MSLNL_HUMAN	T	238;188;539	ENSP00000441381:A238T;ENSP00000415767:A188T;ENSP00000293892:A539T	ENSP00000293892:A539T	A	-	1	0	MSLNL	764958	0.004000	0.15560	0.268000	0.24571	0.209000	0.24338	0.638000	0.24674	0.908000	0.36671	-0.342000	0.07992	GCG		0.716	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		18	91	0	0	0	1	0	18	91					T	824957	C	T	824957	3	4	18	1	0	0	0	0	1	0	0	0	9882	768	27	1	1586	1	MSLNL	16	824957	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		824957	89529796	20	411											
ZNF624	57547	broad.mit.edu	37	17	16525630	16525630	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:16525630A>T	ENST00000311331.7	-	6	2661	c.2570T>A	c.(2569-2571)aTa>aAa	p.I857K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	857					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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTTGATGTATTCTTTGATG	0.328																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.2																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(2569-2571)aTa>aAa		Homo sapiens zinc finger protein 624 (ZNF624), mRNA.							117	120	119					17																	16525630		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16525630A>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2570T>A	17.37:g.16525630A>T	ENSP00000310472:p.Ile857Lys		Somatic				ZNF624_uc021tre.1_Missense_Mutation_p.I731K	p.I857K	NM_020787	NP_065838	WXS	Illumina GAIIx	Phase_I	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	2662	-			857					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.2570T>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	A	7.388	0.630208	0.14257	.	.	ENSG00000197566	ENST00000311331	T	0.09073	3.02	3.21	0.972	0.19704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.58510	1.815	0.34717	D	0.728311	B	0.23058	0.079	B	0.21546	0.035	T	0.07252	-1.0782	9	0.62326	D	0.03	.	6.4242	0.21760	0.774:0.0:0.226:0.0	.	857	Q9P2J8	ZN624_HUMAN	K	857	ENSP00000310472:I857K	ENSP00000310472:I857K	I	-	2	0	ZNF624	16466355	0.000000	0.05858	0.969000	0.41365	0.697000	0.40408	0.233000	0.17911	0.162000	0.19483	0.460000	0.39030	ATA		0.328	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		89	114	0	0	0	1	0	89	114					T	16525630	A	T	16525630	3	4	18	1	0	0	0	0	1	0	0	0	18045	449	16	5	31	5	ZNF624	17	16525630	Missense_Mutation	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		16525630	64669580	21	412											
CEACAM20	125931	broad.mit.edu	37	19	45028102	45028102	+	RNA	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45028102C>T	ENST00000454753.1	-	0	667							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGAGTCCTCCCGCTGGACAAT	0.527																																						uc010ejn.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15						c.(388-390)cGg>cAg		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.							68	68	68					19																	45028102		2079	4228	6307			125931					integral to membrane		g.chr19:45028102C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45028102C>T			Somatic				CEACAM20_uc010ejo.1_Missense_Mutation_p.R130Q|CEACAM20_uc010ejp.1_Missense_Mutation_p.R130Q|CEACAM20_uc010ejq.1_Missense_Mutation_p.R130Q	p.R130Q	NM_001102597	NP_001096067	WXS	Illumina GAIIx	Phase_I	Q6UY09	CEA20_HUMAN			2	405	-		Prostate(69;0.0352)	130			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000454753.1	37	c.389G>A																																																																																					0.527	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		3	6	0	0	0	1	0	3	6					T	45028102	C	T	45028102	1	4	18	0	1	0	0	0	0	0	0	0	3191	652	23	1		1	CEACAM20	19	45028102	RNA	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		45028102	14100881	22	413											
EXOC3L2	90332	broad.mit.edu	37	19	45716591	45716591	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45716591G>A	ENST00000252482.3	-	9	993	c.966C>T	c.(964-966)ctC>ctT	p.L322L	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Silent_p.L322L			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	322					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CACGGATGTCGAGGAGGGCTG	0.672																																						uc002pay.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(964-966)ctC>ctT		Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.							37	40	39					19																	45716591		2203	4300	6503	SO:0001819	synonymous_variant	90332							g.chr19:45716591G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.966C>T	19.37:g.45716591G>A			Somatic					p.L322L	NM_138568	NP_612635	WXS	Illumina GAIIx	Phase_I	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	9	1007	-		all_neural(266;0.224)|Ovarian(192;0.231)	322					Q8N9W2|Q96GV2	Silent	SNP	ENST00000252482.3	37	c.966C>T	CCDS12657.1																																																																																				0.672	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		44	89	0	0	0	1	0	44	89					A	45716591	G	A	45716591	2	1	18	1	0	0	0	0	0	0	0	1	5305	1045	37	1		1	EXOC3L2	19	45716591	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08	688489	45716591	13412392	23	414											
RBM12	10137	broad.mit.edu	37	20	34242285	34242285	+	Silent	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr20:34242285G>C	ENST00000374114.3	-	3	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	RBM12_ENST00000359646.1_Silent_p.V320V|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron	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	320	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					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)			AAAAATCTCTGACATCATTTT	0.438																																						uc002xdq.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.(958-960)gtC>gtG		Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.							94	93	93					20																	34242285		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	RNA binding|nucleotide binding|protein binding	g.chr20:34242285G>C	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.960C>G	20.37:g.34242285G>C			Somatic				CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xds.3_Silent_p.V320V|RBM12_uc002xdr.3_Silent_p.V320V|RBM12_uc021wcq.1_Silent_p.V320V|RBM12_uc021wcr.1_Silent_p.V320V	p.V320V	NM_152838	NP_690051	WXS	Illumina GAIIx	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		2	1232	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		320			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.960C>G	CCDS13261.1																																																																																				0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		4	153	0	0	0	1	0	4	153					C	34242285	G	C	34242285	2	2	18	1	0	0	0	0	0	0	0	1	13113	1277	45	4		4	RBM12	20	34242285	Silent	SNP	G	TCGA-BJ-A28S-01A-11D-A19J-08		34242285	28783235	24	415											
BRWD1	54014	broad.mit.edu	37	21	40668280	40668280	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:40668280T>C	ENST00000333229.2	-	6	686	c.359A>G	c.(358-360)cAc>cGc	p.H120R	BRWD1_ENST00000342449.3_Missense_Mutation_p.H120R|BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000470108.1_5'Flank	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	120					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAACTGTGTGCCTGCAGTC	0.368																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(358-360)cAc>cGc		Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.							89	91	91					21																	40668280		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40668280T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.359A>G	21.37:g.40668280T>C	ENSP00000330753:p.His120Arg		Somatic				BRWD1_uc021wjf.1_Missense_Mutation_p.H120R	p.H120R	NM_018963	NP_061836	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			5	654	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	120					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.359A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891130	0.33348	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16457	2.34;2.34;2.34	5.94	5.94	0.96194	.	0.133086	0.50627	D	0.000111	T	0.14657	0.0354	L	0.27053	0.805	0.80722	D	1	P;B	0.39862	0.692;0.031	B;B	0.39339	0.297;0.006	T	0.09487	-1.0672	10	0.21540	T	0.41	-7.5662	16.4075	0.83691	0.0:0.0:0.0:1.0	.	120;120	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	R	120	ENSP00000330753:H120R;ENSP00000344333:H120R;ENSP00000370178:H120R	ENSP00000330753:H120R	H	-	2	0	BRWD1	39590150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.983000	0.49345	2.275000	0.75901	0.528000	0.53228	CAC		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		83	88	0	0	0	1	0	83	88					C	40668280	T	C	40668280	3	2	18	1	0	0	0	0	1	0	0	0	1525	1696	59	3	6990	3	BRWD1	21	40668280	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08		40668280	7461615	25	416											
PKDREJ	10343	broad.mit.edu	37	22	46658226	46658226	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:46658226C>T	ENST00000253255.5	-	1	993	c.994G>A	c.(994-996)Gtc>Atc	p.V332I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	332	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAACTCCTGACGATCCAGACA	0.547																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(994-996)Gtc>Atc		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							125	133	131					22																	46658226		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658226C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.994G>A	22.37:g.46658226C>T	ENSP00000253255:p.Val332Ile		Somatic					p.V332I	NM_006071	NP_006062	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	994	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	332			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.994G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562384	0.27915	.	.	ENSG00000130943	ENST00000253255	T	0.70045	-0.45	4.78	-9.57	0.00562	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	4.250190	0.00819	N	0.001575	T	0.42720	0.1215	L	0.34521	1.04	0.09310	N	1	B	0.31026	0.304	B	0.20384	0.029	T	0.32771	-0.9894	10	0.33141	T	0.24	2.3754	0.5519	0.00664	0.2901:0.179:0.2873:0.2435	.	332	Q9NTG1	PKDRE_HUMAN	I	332	ENSP00000253255:V332I	ENSP00000253255:V332I	V	-	1	0	PKDREJ	45036890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.172000	0.01266	-2.267000	0.00686	-0.199000	0.12753	GTC		0.547	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	372	0	0	0	1	0	7	372					T	46658226	C	T	46658226	3	4	18	1	0	0	0	0	1	0	0	0	11970	536	19	1	5771	1	PKDREJ	22	46658226	Missense_Mutation	SNP	C	TCGA-BJ-A28S-01A-11D-A19J-08		46658226	4646340	26	417											
CXorf22	170063	broad.mit.edu	37	X	35989984	35989984	+	Splice_Site	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:35989984A>T	ENST00000297866.5	+	13	2223		c.e13-1			NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22											breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GATTTTTTACAGGTTCTCAAA	0.323																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.e13-2		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							25	22	23					X																	35989984		2202	4299	6501	SO:0001630	splice_region_variant	170063							g.chrX:35989984A>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2158-1A>T	X.37:g.35989984A>T			Somatic				CXorf22_uc010ngv.3_Splice_Site	p.V720_splice	NM_152632	NP_689845	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			13	2224	+			720					Q5JRM8|Q8N6X8	Splice_Site	SNP	ENST00000297866.5	37	c.2158_splice	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	8.748	0.920564	0.17982	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9811	0.47494	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXorf22	35899905	0.999000	0.42202	0.219000	0.23793	0.062000	0.15995	5.293000	0.65680	1.864000	0.54056	0.486000	0.48141	.		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	Intron	13	1	0	0	0	1	0	13	1					T	35989984	A	T	35989984	5	4	18	1	0	0	0	0	0	0	1	0	4102	202	7	5	2206	5	CXorf22	23	35989984	Splice_Site	SNP	A	TCGA-BJ-A28S-01A-11D-A19J-08		35989984	119280576	27	418											
MAGEC3	139081	broad.mit.edu	37	X	140969464	140969464	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:140969464T>A	ENST00000298296.1	+	4	791	c.791T>A	c.(790-792)cTg>cAg	p.L264Q	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	264	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									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)					GAGGGGAGTCTGAGTGATGAG	0.478																																						uc011mwp.2																			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.(790-792)cTg>cAg		Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.							139	128	132					X																	140969464		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140969464T>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.791T>A	X.37:g.140969464T>A	ENSP00000298296:p.Leu264Gln		Somatic					p.L264Q	NM_138702	NP_619647	WXS	Illumina GAIIx	Phase_I	Q8TD91	MAGC3_HUMAN			3	791	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.791T>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466113	0.26335	.	.	ENSG00000165509	ENST00000298296	T	0.06068	3.35	2.26	0.984	0.19773	.	.	.	.	.	T	0.15305	0.0369	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.64410	0.925	T	0.12344	-1.0551	9	0.87932	D	0	.	3.9105	0.09201	0.3286:0.0:0.0:0.6713	.	264	Q8TD91	MAGC3_HUMAN	Q	264	ENSP00000298296:L264Q	ENSP00000298296:L264Q	L	+	2	0	MAGEC3	140797130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.412000	0.21131	0.176000	0.19873	0.426000	0.28351	CTG		0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	199	0	0	0	1	0	5	199					A	140969464	T	A	140969464	3	1	18	1	0	0	0	0	1	0	0	0	9182	1580	55	5	805	5	MAGEC3	23	140969464	Missense_Mutation	SNP	T	TCGA-BJ-A28S-01A-11D-A19J-08	104979480	140969464	14301096	28	419											
SLC35D2	11046	broad.mit.edu	37	9	99083567	99083567	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr9:99083567T>C	ENST00000253270.7	-	12	1033	c.971A>G	c.(970-972)aAa>aGa	p.K324R	SLC35D2_ENST00000375259.4_Missense_Mutation_p.K236R	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	324					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCACAGGTTTAGGTTTTAA	0.448																																						uc004awc.3																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(970-972)aAa>aGa		Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.							110	104	106					9																	99083567		2203	4300	6503	SO:0001583	missense	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99083567T>C	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.971A>G	9.37:g.99083567T>C	ENSP00000253270:p.Lys324Arg		Somatic				SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Missense_Mutation_p.K236R	p.K324R	NM_007001	NP_008932	WXS	Illumina GAIIx	Phase_I	Q76EJ3	S35D2_HUMAN			11	1047	-		Acute lymphoblastic leukemia(62;0.0167)	324					O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	c.971A>G	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	T	9.899	1.206375	0.22205	.	.	ENSG00000130958	ENST00000253270;ENST00000375259	T;T	0.65732	0.4;-0.17	4.64	0.802	0.18686	.	0.853536	0.10863	N	0.625828	T	0.56673	0.2001	L	0.61387	1.9	0.09310	N	1	B;B	0.29432	0.244;0.003	B;B	0.28991	0.097;0.002	T	0.43734	-0.9373	10	0.28530	T	0.3	.	10.5984	0.45352	0.0:0.0:0.5547:0.4453	.	236;324	Q76EJ3-2;Q76EJ3	.;S35D2_HUMAN	R	324;236	ENSP00000253270:K324R;ENSP00000364408:K236R	ENSP00000253270:K324R	K	-	2	0	SLC35D2	98123388	0.004000	0.15560	0.000000	0.03702	0.242000	0.25591	1.191000	0.32138	0.041000	0.15688	0.402000	0.26972	AAA		0.448	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			6	68	0	0	0	1	0	6	68					C	99083567	T	C	99083567	3	2	19	1	0	0	0	0	1	0	0	0	14582	1841	64	3	46	3	SLC35D2	9	99083567	Missense_Mutation	SNP	T	TCGA-BJ-A28T-01A-11D-A16O-08		99083567	42129864	1	420											
ATM	472	broad.mit.edu	37	11	108200988	108200988	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr11:108200988T>C	ENST00000452508.2	+	51	7544	c.7355T>C	c.(7354-7356)cTg>cCg	p.L2452P	ATM_ENST00000278616.4_Missense_Mutation_p.L2452P|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2452	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAATTAGCCCTGCGTGCACTG	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7354-7356)cTg>cCg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							117	120	119					11																	108200988		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108200988T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7355T>C	11.37:g.108200988T>C	ENSP00000388058:p.Leu2452Pro	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Missense_Mutation_p.L2452P|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L1104P|ATM_uc001pkg.1_Missense_Mutation_p.L809P	p.L2452P	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	49	7740	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2452			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7355T>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777104	0.49786	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.84298	-1.83;-1.83	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.122188	0.56097	D	0.000035	D	0.89677	0.6784	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.90747	0.4654	10	0.87932	D	0	.	13.6318	0.62200	0.0:0.0:0.0:1.0	.	2452	Q13315	ATM_HUMAN	P	2452	ENSP00000278616:L2452P;ENSP00000388058:L2452P	ENSP00000278616:L2452P	L	+	2	0	ATM	107706198	1.000000	0.71417	0.997000	0.53966	0.042000	0.13812	7.603000	0.82811	1.860000	0.53959	0.459000	0.35465	CTG		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		3	67	0	0	0	1	0	3	67					C	108200988	T	C	108200988	3	2	19	1	0	0	0	0	1	0	0	0	1109	1580	55	3	7549	3	ATM	11	108200988	Missense_Mutation	SNP	T	TCGA-BJ-A28T-01A-11D-A16O-08		108200988	26805528	2	421											
NLRP1	22861	broad.mit.edu	37	17	5418798	5418798	+	Missense_Mutation	SNP	C	C	T	rs367981968		TCGA-BJ-A28T-01A-11D-A16O-08	TCGA-BJ-A28T-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f018056-6042-4651-819c-869d8027a17e	530e1ddc-1a12-416e-9172-4a52473e61eb	g.chr17:5418798C>T	ENST00000572272.1	-	16	4096	c.4097G>A	c.(4096-4098)cGc>cAc	p.R1366H	NLRP1_ENST00000354411.3_Missense_Mutation_p.R1336H|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000345221.3_Missense_Mutation_p.R1322H|NLRP1_ENST00000577119.1_Missense_Mutation_p.R1292H|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Missense_Mutation_p.R1322H			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1366			R -> C (in dbSNP:rs2137722). {ECO:0000269|PubMed:11270363}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTGACCTATGCGGGCTGGAGG	0.507																																						uc002gci.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4096-4098)cGc>cAc		Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,	0,3998		0,0,1999	61	66	64		3965,4097,4007,3875,	-5.1	0.0	17		64	1,8327		0,1,4163	no	missense,missense,missense,missense,intron	NLRP1	NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3,NM_001033053.2	29,29,29,29,	0,1,6162	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	1322/1430,1366/1474,1336/1444,1292/1400,	5418798	1,12325	1999	4164	6163	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418798C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4097G>A	17.37:g.5418798C>T	ENSP00000460475:p.Arg1366His		Somatic				NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Missense_Mutation_p.R1322H|NLRP1_uc002gck.3_Missense_Mutation_p.R1322H|NLRP1_uc002gcj.3_Missense_Mutation_p.R1336H|NLRP1_uc002gcl.3_Missense_Mutation_p.R1292H	p.R1366H	NM_033004	NP_127497	WXS	Illumina GAIIx	Phase_I	Q9C000	NALP1_HUMAN			15	4652	-		Colorectal(1115;3.48e-05)	1366		R -> C (in dbSNP:rs2137722).			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.4097G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590741	0.13812	0.0	1.2E-4	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.70399	-0.47;-0.48	4.17	-5.14	0.02875	.	2.920070	0.01662	N	0.025176	T	0.37705	0.1013	N	0.08118	0	0.09310	N	1	P;P;P;P	0.49358	0.923;0.923;0.875;0.923	B;B;B;B	0.34722	0.188;0.188;0.092;0.188	T	0.47315	-0.9127	10	0.15066	T	0.55	.	2.1421	0.03777	0.2833:0.3939:0.2013:0.1215	.	1292;1336;1366;1322	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	H	1366;1336;1322	ENSP00000346390:R1336H;ENSP00000324366:R1322H	ENSP00000269280:R1366H	R	-	2	0	NLRP1	5359522	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-1.930000	0.01557	-0.925000	0.03775	-0.140000	0.14226	CGC		0.507	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		4	70	0	0	0	1	0	4	70					T	5418798	C	T	5418798	3	4	19	1	0	0	0	0	1	0	0	0	10471	768	27	1	395	1	NLRP1	17	5418798	Missense_Mutation	SNP	C	TCGA-BJ-A28T-01A-11D-A16O-08		5418798	75776412	3	422											
USP48	84196	broad.mit.edu	37	1	22084264	22084264	+	Silent	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:22084264T>C	ENST00000308271.9	-	2	795	c.147A>G	c.(145-147)aaA>aaG	p.K49K	USP48_ENST00000421625.2_Silent_p.K49K|USP48_ENST00000529637.1_Silent_p.K49K|USP48_ENST00000400301.1_Silent_p.K49K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	49					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCGGATTTCCTTTGCAGTTTC	0.333																																						uc010odq.2																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(145-147)aaA>aaG		Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.							87	80	83					1																	22084264		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22084264T>C	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.147A>G	1.37:g.22084264T>C			Somatic				USP48_uc001bfb.3_Silent_p.K49K|USP48_uc009vqc.3_Silent_p.K49K|USP48_uc001bfc.3_Silent_p.K49K|USP48_uc001bfe.1_Silent_p.K49K|USP48_uc001bff.3_Silent_p.K49K	p.K49K	NM_032236	NP_115612	WXS	Illumina GAIIx	Phase_I	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	1	385	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	49					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.147A>G	CCDS30623.1																																																																																				0.333	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		19	22	0	0	0	1	0	19	22					C	22084264	T	C	22084264	2	2	20	1	0	0	0	0	0	0	0	1	17076	1606	56	3		3	USP48	1	22084264	Silent	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		22084264	227166357	1	423											
JAK1	3716	broad.mit.edu	37	1	65309860	65309860	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:65309860C>T	ENST00000342505.4	-	17	2538	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	764	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GAGTCCTCAACACACTCAGGA	0.488			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		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.(2290-2292)Gtt>Att		Homo sapiens Janus kinase 1 (JAK1), mRNA.							163	162	163					1																	65309860		2048	4193	6241	SO:0001583	missense	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.chr1:65309860C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2290G>A	1.37:g.65309860C>T	ENSP00000343204:p.Val764Ile		Somatic				JAK1_uc009wam.1_Missense_Mutation_p.V764I|JAK1_uc009wal.1_5'UTR	p.V764I	NM_002227	NP_002218	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2539	-			764			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2290G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145495	0.37825	.	.	ENSG00000162434	ENST00000342505	T	0.81078	-1.45	5.37	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.69878	0.3160	N	0.17901	0.54	0.53005	D	0.999968	D	0.69078	0.997	D	0.80764	0.994	T	0.70615	-0.4823	9	0.06099	T	0.92	-4.1919	14.4518	0.67389	0.0:0.9298:0.0:0.0702	.	764	P23458	JAK1_HUMAN	I	764	ENSP00000343204:V764I	ENSP00000343204:V764I	V	-	1	0	JAK1	65082448	1.000000	0.71417	0.993000	0.49108	0.305000	0.27757	2.851000	0.48302	1.511000	0.48818	-0.215000	0.12644	GTT		0.488	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		42	105	0	0	0	1	0	42	105					T	65309860	C	T	65309860	3	4	20	1	0	0	0	0	1	0	0	0	7937	478	17	2	1210	2	JAK1	1	65309860	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	43225596	65309860	183940761	2	424											
NUP210L	91181	broad.mit.edu	37	1	153984831	153984831	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:153984831A>T	ENST00000368559.3	-	34	4740	c.4669T>A	c.(4669-4671)Tca>Aca	p.S1557T	NUP210L_ENST00000271854.3_Missense_Mutation_p.S1557T|NUP210L_ENST00000368553.1_Missense_Mutation_p.S490T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1557					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATCTTGATGATGCATTGACC	0.413																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(4669-4671)Tca>Aca		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							272	241	251					1																	153984831		1956	4166	6122	SO:0001583	missense	91181					integral to membrane		g.chr1:153984831A>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4669T>A	1.37:g.153984831A>T	ENSP00000357547:p.Ser1557Thr		Somatic				NUP210L_uc009woq.3_Missense_Mutation_p.S466T|NUP210L_uc010peh.2_Missense_Mutation_p.S1557T	p.S1557T	NM_207308	NP_997191	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		33	4741	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1557					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4669T>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047196	0.55110	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23348	3.44;1.91;3.24	6.0	6.0	0.97389	.	0.250753	0.28589	N	0.014802	T	0.11836	0.0288	L	0.44542	1.39	0.27433	N	0.953946	P;P	0.50443	0.935;0.935	P;P	0.45753	0.492;0.492	T	0.13737	-1.0498	10	0.09590	T	0.72	-31.9468	13.9332	0.64010	1.0:0.0:0.0:0.0	.	1557;1557	E7EP56;Q5VU65	.;P210L_HUMAN	T	1557;490;1557	ENSP00000357547:S1557T;ENSP00000357541:S490T;ENSP00000271854:S1557T	ENSP00000271854:S1557T	S	-	1	0	NUP210L	152251455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.973000	0.63763	2.313000	0.78055	0.454000	0.30748	TCA		0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		64	103	0	0	0	1	0	64	103					T	153984831	A	T	153984831	3	4	20	1	0	0	0	0	1	0	0	0	10761	333	12	5	1025	5	NUP210L	1	153984831	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	88674971	153984831	95265790	3	425											
PCNXL2	80003	broad.mit.edu	37	1	233152767	233152767	+	Missense_Mutation	SNP	A	A	T	rs538249519		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:233152767A>T	ENST00000258229.9	-	27	4973	c.4739T>A	c.(4738-4740)aTt>aAt	p.I1580N	PCNXL2_ENST00000344698.2_Missense_Mutation_p.I232N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1580						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCATCATCAATGTTAATGTT	0.458																																						uc001hvl.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4738-4740)aTt>aAt		Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.							143	137	139					1																	233152767		1985	4149	6134	SO:0001583	missense	80003					integral to membrane		g.chr1:233152767A>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4739T>A	1.37:g.233152767A>T	ENSP00000258229:p.Ile1580Asn		Somatic				PCNXL2_uc001hvk.1_Missense_Mutation_p.I232N|PCNXL2_uc001hvm.1_Non-coding_Transcript	p.I1580N	NM_014801	NP_055616	WXS	Illumina GAIIx	Phase_I	A6NKB5	PCX2_HUMAN			26	4974	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1580					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4739T>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642831	0.67244	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26373	1.74;2.85	5.8	0.898	0.19264	.	0.149732	0.64402	D	0.000016	T	0.20740	0.0499	L	0.41415	1.275	0.80722	D	1	B;P	0.48089	0.002;0.905	B;B	0.42653	0.025;0.394	T	0.02015	-1.1229	10	0.87932	D	0	.	9.8652	0.41138	0.746:0.0:0.254:0.0	.	1580;232	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	N	232;1580	ENSP00000340759:I232N;ENSP00000258229:I1580N	ENSP00000258229:I1580N	I	-	2	0	PCNXL2	231219390	1.000000	0.71417	0.776000	0.31678	0.942000	0.58702	4.990000	0.63876	-0.100000	0.12241	-0.274000	0.10170	ATT		0.458	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		38	54	0	0	0	1	0	38	54					T	233152767	A	T	233152767	3	4	20	1	0	0	0	0	1	0	0	0	11592	101	4	5	1706	5	PCNXL2	1	233152767	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	79167936	233152767	16097854	4	426											
APOB	338	broad.mit.edu	37	2	21245891	21245891	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:21245891T>A	ENST00000233242.1	-	18	2755	c.2628A>T	c.(2626-2628)aaA>aaT	p.K876N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	876					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACGGAGGGTTTTGCCACCA	0.473																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2626-2628)aaA>aaT		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						100	103	102					2																	21245891		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245891T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2628A>T	2.37:g.21245891T>A	ENSP00000233242:p.Lys876Asn		Somatic					p.K876N	NM_000384	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			17	2756	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		876					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2628A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383134	0.61845	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.21031	2.03	5.51	0.263	0.15602	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.177736	0.38778	N	0.001571	T	0.35998	0.0951	M	0.75447	2.3	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.08953	-1.0697	10	0.49607	T	0.09	.	9.1461	0.36933	0.0:0.3577:0.0:0.6423	.	876	P04114	APOB_HUMAN	N	876	ENSP00000233242:K876N	ENSP00000233242:K876N	K	-	3	2	APOB	21099396	0.988000	0.35896	0.614000	0.29051	0.722000	0.41435	0.182000	0.16900	0.045000	0.15804	-0.290000	0.09829	AAA		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	69	0	0	0	1	0	4	69					A	21245891	T	A	21245891	3	1	20	1	0	0	0	0	1	0	0	0	785	1722	60	5	11111	5	APOB	2	21245891	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		21245891	221953482	5	427											
ABCG8	64241	broad.mit.edu	37	2	44079903	44079903	+	Missense_Mutation	SNP	C	C	T	rs201133496		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:44079903C>T	ENST00000272286.2	+	6	950	c.860C>T	c.(859-861)aCg>aTg	p.T287M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	287	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCCTGATGACGTCTGGCACC	0.587																																						uc002rtq.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(859-861)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.							92	84	87					2																	44079903		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079903C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.860C>T	2.37:g.44079903C>T	ENSP00000272286:p.Thr287Met		Somatic				ABCG8_uc010yoa.2_Missense_Mutation_p.T287M	p.T287M	NM_022437	NP_071882	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			5	950	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	287			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.860C>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099860	0.56183	.	.	ENSG00000143921	ENST00000272286	T	0.41758	0.99	5.57	4.64	0.57946	ABC transporter-like (1);	0.216247	0.48767	D	0.000170	T	0.59018	0.2163	L	0.56769	1.78	0.45342	D	0.99833	D;D	0.76494	0.999;0.998	D;P	0.64595	0.927;0.847	T	0.62459	-0.6850	10	0.87932	D	0	.	15.9022	0.79387	0.0:0.8646:0.1354:0.0	.	287;287	Q9H221-2;Q9H221	.;ABCG8_HUMAN	M	287	ENSP00000272286:T287M	ENSP00000272286:T287M	T	+	2	0	ABCG8	43933407	1.000000	0.71417	0.096000	0.21009	0.137000	0.21094	4.575000	0.60908	2.614000	0.88457	0.655000	0.94253	ACG		0.587	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		6	71	0	0	0	1	0	6	71					T	44079903	C	T	44079903	3	4	20	1	0	0	0	0	1	0	0	0	72	536	19	1	882	1	ABCG8	2	44079903	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	22834012	44079903	199119470	6	428											
HEG1	57493	broad.mit.edu	37	3	124746059	124746059	+	Silent	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr3:124746059G>A	ENST00000311127.4	-	3	970	c.903C>T	c.(901-903)gaC>gaT	p.D301D		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	301					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATGAGGAAAGGTCTAAGAGAG	0.468																																						uc011bke.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(901-903)gaC>gaT		Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.							42	46	45					3																	124746059		1987	4151	6138	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746059G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.903C>T	3.37:g.124746059G>A			Somatic				HEG1_uc003ehs.4_Silent_p.D301D	p.D301D	NM_020733	NP_065784	WXS	Illumina GAIIx	Phase_I	Q9ULI3	HEG1_HUMAN			2	971	-			301					Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.903C>T	CCDS46898.1																																																																																				0.468	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		3	9	0	0	0	1	0	3	9					A	124746059	G	A	124746059	2	1	20	1	0	0	0	0	0	0	0	1	7044	1252	44	2		2	HEG1	3	124746059	Silent	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		124746059	73276371	7	429											
TKTL2	84076	broad.mit.edu	37	4	164394293	164394293	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr4:164394293A>C	ENST00000280605.3	-	1	754	c.594T>G	c.(592-594)caT>caG	p.H198Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	198						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCTGCGCCATGCTCAAGGG	0.527																																						uc003iqp.4																			0		p.E197E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(592-594)caT>caG		Homo sapiens transketolase-like 2 (TKTL2), mRNA.							72	72	72					4																	164394293		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394293A>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.594T>G	4.37:g.164394293A>C	ENSP00000280605:p.His198Gln		Somatic					p.H198Q	NM_032136	NP_115512	WXS	Illumina GAIIx	Phase_I	Q9H0I9	TKTL2_HUMAN			0	755	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	198					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.594T>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	A	9.085	1.000261	0.19121	.	.	ENSG00000151005	ENST00000280605	T	0.29397	1.57	3.75	0.831	0.18860	Transketolase, N-terminal (1);	0.060527	0.64402	D	0.000004	T	0.42562	0.1208	M	0.62016	1.91	0.51233	D	0.999919	D	0.61080	0.989	D	0.65323	0.934	T	0.23619	-1.0183	10	0.62326	D	0.03	-7.8207	5.3787	0.16179	0.2038:0.1685:0.6277:0.0	.	198	Q9H0I9	TKTL2_HUMAN	Q	198	ENSP00000280605:H198Q	ENSP00000280605:H198Q	H	-	3	2	TKTL2	164613743	0.978000	0.34361	0.002000	0.10522	0.009000	0.06853	0.793000	0.26944	0.164000	0.19529	-0.177000	0.13119	CAT		0.527	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		37	60	0	0	0	1	0	37	60					C	164394293	A	C	164394293	3	2	20	1	0	0	0	0	1	0	0	0	15933	214	8	5	1290	5	TKTL2	4	164394293	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		164394293	26759983	8	430											
KIF4B	285643	broad.mit.edu	37	5	154393803	154393803	+	Silent	SNP	A	A	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:154393803A>G	ENST00000435029.4	+	1	544	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	128	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			K -> Q (in Ref. 1; AF241316). {ECO:0000305}.	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)			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)			AAATTGATAAAAAGAGTGACT	0.373																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(382-384)aaA>aaG		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							82	88	86					5																	154393803		2203	4298	6501	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393803A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.384A>G	5.37:g.154393803A>G			Somatic					p.K128K	NM_001099293	NP_001092763	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	544	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	128	K -> Q (in Ref. 1; AF241316).		Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.384A>G	CCDS47324.1																																																																																				0.373	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			39	75	0	0	0	1	0	39	75					G	154393803	A	G	154393803	2	3	20	1	0	0	0	0	0	0	0	1	8304	11	1	3		3	KIF4B	5	154393803	Silent	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		154393803	26521457	9	431											
NSD1	64324	broad.mit.edu	37	5	176721551	176721552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:176721551_176721552insA	ENST00000439151.2	+	23	7227_7228	c.7182_7183insA	c.(7183-7185)actfs	p.T2395fs	NSD1_ENST00000347982.4_Frame_Shift_Ins_p.T2126fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.T2126fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.T2292fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2395	Pro-rich.				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)		GACTGCTCATTACTAGCAGTCC	0.545			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.4				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		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.(7180-7185)attactfs		Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	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.chr5:176721551_176721552insA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7183dupA	5.37:g.176721552_176721552dupA	ENSP00000395929:p.Thr2395fs	HNSCC(47;0.14)	Somatic				NSD1_uc003mft.4_Frame_Shift_Ins_p.I2125fs|NSD1_uc011dfx.2_Frame_Shift_Ins_p.I2042fs|NSD1_uc021yip.1_Frame_Shift_Ins_p.I218fs	p.I2394fs	NM_022455	NP_071900	WXS	Illumina GAIIx	Phase_I	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)	22	7320_7321	+	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)	2394			Pro-rich.		Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.7182_7183insA	CCDS4412.1																																																																																				0.545	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		44	76						44	76	---	---	---	---	A	176721552	-	A	176721551	7	5	20	1	0	1	1	0	0	0	0	0	10669	1742	61	0	7268	0	NSD1	5	176721551	Frame_Shift_Ins	INS	-	TCGA-BJ-A28V-01A-11D-A19J-08	22327748	176721551	4193709	10	432											
TBX18	9096	broad.mit.edu	37	6	85446689	85446689	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr6:85446689G>C	ENST00000369663.5	-	8	1875	c.1538C>G	c.(1537-1539)aCc>aGc	p.T513S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	513					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACCCTGATGGGTCTGGTTAGT	0.498																																						uc003pkl.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1537-1539)aCc>aGc		Homo sapiens T-box 18 (TBX18), mRNA.							139	152	148					6																	85446689		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446689G>C	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1538C>G	6.37:g.85446689G>C	ENSP00000358677:p.Thr513Ser		Somatic				TBX18_uc010kbq.2_Intron	p.T513S	NM_001080508	NP_001073977	WXS	Illumina GAIIx	Phase_I	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1538	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	513					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1538C>G	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	2.887	-0.230436	0.05983	.	.	ENSG00000112837	ENST00000369663	D	0.87412	-2.25	5.26	5.26	0.73747	.	0.428736	0.27236	N	0.020284	T	0.65344	0.2682	N	0.12182	0.205	0.37536	D	0.9181	B	0.17268	0.021	B	0.15052	0.012	T	0.63395	-0.6647	10	0.11485	T	0.65	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	513	O95935	TBX18_HUMAN	S	513	ENSP00000358677:T513S	ENSP00000358677:T513S	T	-	2	0	TBX18	85503408	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	3.805000	0.55575	2.453000	0.82957	0.585000	0.79938	ACC		0.498	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		19	124	0	0	0	1	0	19	124					C	85446689	G	C	85446689	3	2	20	1	0	0	0	0	1	0	0	0	15650	1261	44	4	289	4	TBX18	6	85446689	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		85446689	85668378	11	433											
DCLRE1C	64421	broad.mit.edu	37	10	14950925	14950925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:14950925G>A	ENST00000378278.2	-	14	1598	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L174F|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L406F|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.L401F			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	521					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGAAAAGCTTTGGTGAC	0.453								Non-homologous end-joining																														uc001inn.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1561-1563)Ctt>Ttt	Non-homologous end-joining	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.							49	49	49					10																	14950925		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14950925G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1561C>T	10.37:g.14950925G>A	ENSP00000367527:p.Leu521Phe		Somatic				DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.L174F|DCLRE1C_uc001inl.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inr.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xji.3_Missense_Mutation_p.L406F|DCLRE1C_uc001inm.3_Missense_Mutation_p.L401F|DCLRE1C_uc001ino.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inq.3_Missense_Mutation_p.L401F|DCLRE1C_uc021pni.1_Missense_Mutation_p.L406F	p.L521F	NM_001033855	NP_001029027	WXS	Illumina GAIIx	Phase_I	Q96SD1	DCR1C_HUMAN			13	1646	-			521					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.1561C>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924458	0.73213	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.93	5.02	0.67125	.	0.188507	0.45361	D	0.000369	T	0.34395	0.0896	L	0.34521	1.04	0.36403	D	0.863263	D;D	0.63046	0.992;0.99	P;P	0.62298	0.9;0.762	T	0.42949	-0.9421	10	0.72032	D	0.01	.	9.6033	0.39619	0.0736:0.0:0.7823:0.1441	.	406;521	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	F	401;406;406;406;401;401;401;521;401;174	ENSP00000400529:L401F;ENSP00000367492:L406F;ENSP00000350349:L406F;ENSP00000367496:L406F;ENSP00000380030:L401F;ENSP00000367503:L401F;ENSP00000367502:L401F;ENSP00000367527:L521F;ENSP00000367506:L401F;ENSP00000367488:L174F	ENSP00000350349:L406F	L	-	1	0	DCLRE1C	14990931	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	1.860000	0.39428	1.486000	0.48398	0.655000	0.94253	CTT		0.453	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		10	29	0	0	0	1	0	10	29					A	14950925	G	A	14950925	3	1	20	1	0	0	0	0	1	0	0	0	4296	971	34	2	521	2	DCLRE1C	10	14950925	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		14950925	120583822	12	434											
ADO	84890	broad.mit.edu	37	10	64565000	64565000	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:64565000C>G	ENST00000373783.1	+	1	485	c.181C>G	c.(181-183)Ctc>Gtc	p.L61V	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	61						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGACCCAGCTCCGCGCCGA	0.687																																						uc001jmg.3																			0				lung(2)	2						c.(181-183)Ctc>Gtc		Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.							19	20	19					10																	64565000		2199	4293	6492	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565000C>G	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.181C>G	10.37:g.64565000C>G	ENSP00000362888:p.Leu61Val		Somatic					p.L61V	NM_032804	NP_116193	WXS	Illumina GAIIx	Phase_I	Q96SZ5	AEDO_HUMAN			0	485	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		61					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.181C>G	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	c	1.896	-0.454375	0.04540	.	.	ENSG00000181915	ENST00000373783	T	0.49720	0.77	4.99	0.65	0.17812	Cupin, RmlC-type (1);	0.224693	0.35870	N	0.002922	T	0.17323	0.0416	N	0.02539	-0.55	0.24527	N	0.994137	B	0.11235	0.004	B	0.15052	0.012	T	0.30736	-0.9968	10	0.06494	T	0.89	-11.3433	10.5299	0.44971	0.0738:0.372:0.5542:0.0	.	61	Q96SZ5	AEDO_HUMAN	V	61	ENSP00000362888:L61V	ENSP00000362888:L61V	L	+	1	0	ADO	64235006	0.953000	0.32496	1.000000	0.80357	0.843000	0.47879	0.331000	0.19733	0.216000	0.20781	-0.777000	0.03380	CTC		0.687	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		13	9	0	0	0	1	0	13	9					G	64565000	C	G	64565000	3	3	20	1	0	0	0	0	1	0	0	0	325	797	28	4	183	4	ADO	10	64565000	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	49614075	64565000	70969747	13	435											
OR10AG1	282770	broad.mit.edu	37	11	55735773	55735773	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:55735773T>C	ENST00000312345.2	-	1	217	c.167A>G	c.(166-168)aAt>aGt	p.N56S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	56						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)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGGGAAAAATTGCTAAGAAA	0.343																																						uc010rit.2																			0		p.N56N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(166-168)aAt>aGt		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.							56	64	61					11																	55735773		2200	4296	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735773T>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.167A>G	11.37:g.55735773T>C	ENSP00000311477:p.Asn56Ser		Somatic					p.N56S	NM_001005491	NP_001005491	WXS	Illumina GAIIx	Phase_I	Q8NH19	O10AG_HUMAN			0	167	-	Esophageal squamous(21;0.0137)		56					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.167A>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	T	7.510	0.654528	0.14580	.	.	ENSG00000174970	ENST00000312345	T	0.12774	2.65	5.36	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.117120	0.38326	N	0.001727	T	0.17577	0.0422	M	0.78637	2.42	0.09310	N	1	P	0.45011	0.848	B	0.38921	0.285	T	0.18618	-1.0331	10	0.66056	D	0.02	.	9.6179	0.39704	0.0:0.0841:0.0:0.9159	.	56	Q8NH19	O10AG_HUMAN	S	56	ENSP00000311477:N56S	ENSP00000311477:N56S	N	-	2	0	OR10AG1	55492349	0.007000	0.16637	0.004000	0.12327	0.022000	0.10575	1.673000	0.37534	0.893000	0.36288	-0.698000	0.03680	AAT		0.343	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		26	59	0	0	0	1	0	26	59					C	55735773	T	C	55735773	3	2	20	1	0	0	0	0	1	0	0	0	10897	1493	52	3	741	3	OR10AG1	11	55735773	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		55735773	79270743	14	436											
OR9I1	219954	broad.mit.edu	37	11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	rs139300657		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:57886441C>T	ENST00000302610.1	-	1	475	c.476G>A	c.(475-477)cGt>cAt	p.R159H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542													C|||	1	0.000199681	0	0.0014	5008	,	,		20976	0		0	False		,,,				2504	0					uc001nml.1																			1	Substitution - Missense(1)	p.R159H(2)	urinary_tract(1)	endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(475-477)cGt>cAt		Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	57	55	56		476	4.0	1.0	11	dbSNP_134	56	5,8587	4.3+/-15.6	0,5,4291	yes	missense	OR9I1	NM_001005211.1	29	0,6,6491	TT,TC,CC		0.0582,0.0227,0.0462	benign	159/315	57886441	6,12988	2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886441C>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"GPCR / Class A : Olfactory receptors"	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.476G>A	11.37:g.57886441C>T	ENSP00000302606:p.Arg159His		Somatic				OR9Q1_uc001nmj.3_Intron	p.R159H	NM_001005211	NP_001005211	WXS	Illumina GAIIx	Phase_I	Q8NGQ6	OR9I1_HUMAN			0	476	-		Breast(21;0.0589)	159					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.476G>A	CCDS31542.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.672	-0.801673	0.02841	2.27E-4	5.82E-4	ENSG00000172377	ENST00000302610	T	0.00017	9.1	4.96	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000341	T	0.00039	0.0001	N	0.01277	-0.915	0.09310	N	0.999993	B	0.33857	0.429	B	0.29176	0.099	T	0.03933	-1.0991	10	0.02654	T	1	-4.4557	7.1379	0.25539	0.0:0.7432:0.0:0.2568	.	159	Q8NGQ6	OR9I1_HUMAN	H	159	ENSP00000302606:R159H	ENSP00000302606:R159H	R	-	2	0	OR9I1	57643017	0.000000	0.05858	0.988000	0.46212	0.650000	0.38633	0.034000	0.13776	1.433000	0.47394	0.460000	0.39030	CGT		0.542	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		3	18	0	0	0	1	0	3	18					T	57886441	C	T	57886441	3	4	20	1	0	0	0	0	1	0	0	0	11253	536	19	1	472	1	OR9I1	11	57886441	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	2150668	57886441	77120075	15	437											
BCL9L	283149	broad.mit.edu	37	11	118769524	118769524	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:118769524G>A	ENST00000334801.3	-	8	5064	c.4100C>T	c.(4099-4101)gCg>gTg	p.A1367V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1367	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGTCTGCTCCGCCATCATGTT	0.617																																						uc001pug.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(4099-4101)gCg>gTg		Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.							37	38	38					11																	118769524		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769524G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4100C>T	11.37:g.118769524G>A	ENSP00000335320:p.Ala1367Val		Somatic				BCL9L_uc009zal.3_Missense_Mutation_p.A1362V	p.A1367V	NM_182557	NP_872363	WXS	Illumina GAIIx	Phase_I	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	5065	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1367			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.4100C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	g	19.18	3.778187	0.70107	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000431085	T	0.47869	0.83	3.97	3.97	0.46021	.	0.352979	0.20033	U	0.100667	T	0.56202	0.1969	L	0.40543	1.245	0.49483	D	0.999798	D;D	0.71674	0.998;0.996	P;P	0.59012	0.85;0.711	T	0.60737	-0.7204	10	0.56958	D	0.05	-4.2762	16.411	0.83712	0.0:0.0:1.0:0.0	.	1362;1367	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	1367;1330;613;1322	ENSP00000335320:A1367V	ENSP00000335320:A1367V	A	-	2	0	BCL9L	118274734	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.622000	0.74233	1.931000	0.55961	0.298000	0.19748	GCG		0.617	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		3	47	0	0	0	1	0	3	47					A	118769524	G	A	118769524	3	1	20	1	0	0	0	0	1	0	0	0	1382	1087	38	1	403	1	BCL9L	11	118769524	Missense_Mutation	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08	60883083	118769524	16236992	16	438											
GUCY2C	2984	broad.mit.edu	37	12	14836053	14836053	+	Silent	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:14836053G>A	ENST00000261170.3	-	4	670	c.534C>T	c.(532-534)aaC>aaT	p.N178N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	178					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGGGCAGATCGTTGGTTTTCC	0.383																																						uc001rcd.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(532-534)aaC>aaT		Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.							97	91	93					12																	14836053		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14836053G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.534C>T	12.37:g.14836053G>A			Somatic				GUCY2C_uc009zhz.2_Silent_p.N178N	p.N178N	NM_004963	NP_004954	WXS	Illumina GAIIx	Phase_I	P25092	GUC2C_HUMAN			3	671	-			178					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.534C>T	CCDS8664.1																																																																																				0.383	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			21	24	0	0	0	1	0	21	24					A	14836053	G	A	14836053	2	1	20	1	0	0	0	0	0	0	0	1	6896	1136	40	1		1	GUCY2C	12	14836053	Silent	SNP	G	TCGA-BJ-A28V-01A-11D-A19J-08		14836053	119015842	17	439											
PLEKHA5	54477	broad.mit.edu	37	12	19501352	19501352	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:19501352A>G	ENST00000299275.6	+	19	2426	c.2420A>G	c.(2419-2421)tAc>tGc	p.Y807C	PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y796C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y789C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y870C|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y565C|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y973C	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	807					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TATAGACTCTACAAGAGTGAA	0.333																																					Pancreas(196;329 2193 11246 14234 19524)	uc010sie.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2902-2904)tAc>tGc		Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 2, mRNA.							99	101	100					12																	19501352		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501352A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2420A>G	12.37:g.19501352A>G	ENSP00000299275:p.Tyr807Cys		Somatic				PLEKHA5_uc001rea.3_Missense_Mutation_p.Y865C|PLEKHA5_uc001reb.3_Missense_Mutation_p.Y807C|PLEKHA5_uc009zin.3_Missense_Mutation_p.Y565C|PLEKHA5_uc010sig.2_Missense_Mutation_p.Y789C|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y762C|PLEKHA5_uc021qvy.1_Missense_Mutation_p.Y796C|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y616C|PLEKHA5_uc009zio.3_Intron	p.Y968C	NM_001143821	NP_001137293	WXS	Illumina GAIIx	Phase_I	Q9HAU0	PKHA5_HUMAN			24	3011	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		826					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2903A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745440	0.69418	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	D;T;D;T;T;T;D;D;D	0.88741	-2.42;2.11;-2.42;2.18;1.8;2.11;-2.42;-2.42;-2.42	5.09	5.09	0.68999	.	0.126713	0.56097	D	0.000040	D	0.94341	0.8181	M	0.83012	2.62	0.45239	D	0.998247	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;1.0;0.999;0.996;0.999;0.999;1.0	D	0.93978	0.7255	10	0.38643	T	0.18	-10.8403	15.1692	0.72858	1.0:0.0:0.0:0.0	.	870;789;796;968;973;807;865	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	C	870;865;969;973;807;565;865;796;789;762	ENSP00000325155:Y870C;ENSP00000347560:Y865C;ENSP00000404296:Y973C;ENSP00000299275:Y807C;ENSP00000440611:Y565C;ENSP00000439673:Y865C;ENSP00000400411:Y796C;ENSP00000439837:Y789C;ENSP00000440371:Y762C	ENSP00000299275:Y807C	Y	+	2	0	PLEKHA5	19392619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.014000	0.59158	0.460000	0.39030	TAC		0.333	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		9	78	0	0	0	1	0	9	78					G	19501352	A	G	19501352	3	3	20	1	0	0	0	0	1	0	0	0	12059	391	14	3	2812	3	PLEKHA5	12	19501352	Missense_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08	4665299	19501352	114350543	18	440											
PXMP2	5827	broad.mit.edu	37	12	133266955	133266955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:133266955delG	ENST00000317479.3	+	2	294	c.229delG	c.(229-231)gttfs	p.V77fs	PXMP2_ENST00000539093.1_Frame_Shift_Del_p.P2fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000428960.2_5'UTR|PXMP2_ENST00000545677.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.V77fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	77						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAGATATGCCGTTTACGGGTG	0.498																																						uc001ukt.3																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(229-231)gttfs		Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.							74	73	74					12																	133266955		2203	4300	6503	SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266955delG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"peroxisomal membrane protein 2 (22kD)"			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.229delG	12.37:g.133266955delG	ENSP00000321271:p.Val77fs		Somatic				PGAM5_uc010tbr.2_Non-coding_Transcript	p.V77fs	NM_018663	NP_061133	WXS	Illumina GAIIx	Phase_I	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	1	294	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		77						Frame_Shift_Del	DEL	ENST00000317479.3	37	c.229delG	CCDS9279.1																																																																																				0.498	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		18	36						18	36	---	---	---	---	-	133266955	G	-	133266955	7	5	20	1	0	1	0	1	0	0	0	0	12850	1145	40	0	235	0	PXMP2	12	133266955	Frame_Shift_Del	DEL	G	TCGA-BJ-A28V-01A-11D-A19J-08	113765603	133266955	584940	19	441											
OR4M1	441670	broad.mit.edu	37	14	20249247	20249247	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr14:20249247T>C	ENST00000315957.4	+	1	847	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTTGGGCCATCCATCTACAT	0.423																																						uc010tku.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(766-768)Tcc>Ccc		Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.							227	210	216					14																	20249247		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249247T>C		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.766T>C	14.37:g.20249247T>C	ENSP00000319654:p.Ser256Pro		Somatic					p.S256P	NM_001005500	NP_001005500	WXS	Illumina GAIIx	Phase_I	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	766	+	all_cancers(95;0.00108)		256					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.766T>C	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.749035	0.49257	.	.	ENSG00000176299	ENST00000315957	T	0.00115	8.71	4.42	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.281254	0.25851	N	0.027888	T	0.00109	0.0003	L	0.38175	1.15	0.32041	N	0.598205	B	0.21905	0.062	B	0.20955	0.032	T	0.16305	-1.0407	10	0.72032	D	0.01	-11.3993	5.1896	0.15203	0.181:0.0:0.1883:0.6307	.	256	Q8NGD0	OR4M1_HUMAN	P	256	ENSP00000319654:S256P	ENSP00000319654:S256P	S	+	1	0	OR4M1	19319087	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.084000	0.14891	0.822000	0.34565	0.414000	0.27820	TCC		0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			43	126	0	0	0	1	0	43	126					C	20249247	T	C	20249247	3	2	20	1	0	0	0	0	1	0	0	0	11075	1435	50	3	768	3	OR4M1	14	20249247	Missense_Mutation	SNP	T	TCGA-BJ-A28V-01A-11D-A19J-08		20249247	87100293	20	442											
MYH3	4621	broad.mit.edu	37	17	10558261	10558261	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:10558261C>A	ENST00000583535.1	-	3	208	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	MYH3_ENST00000226209.7_Missense_Mutation_p.V41L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	41					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTGAGTCCACCACGAAGCAA	0.507																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(121-123)Gtg>Ttg		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							241	226	231					17																	10558261		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10558261C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.121G>T	17.37:g.10558261C>A	ENSP00000464317:p.Val41Leu		Somatic					p.V41L	NM_002470	NP_002461	WXS	Illumina GAIIx	Phase_I	P11055	MYH3_HUMAN			2	209	-			41			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.121G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784287	0.49997	.	.	ENSG00000109063	ENST00000226209	T	0.80304	-1.36	5.38	5.38	0.77491	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.78729	0.4329	L	0.61036	1.89	0.27742	N	0.944462	B	0.02656	0.0	B	0.09377	0.004	T	0.71441	-0.4592	9	0.72032	D	0.01	.	12.6162	0.56578	0.0:0.9249:0.0:0.0751	.	41	P11055	MYH3_HUMAN	L	41	ENSP00000226209:V41L	ENSP00000226209:V41L	V	-	1	0	MYH3	10498986	0.004000	0.15560	1.000000	0.80357	0.895000	0.52256	0.397000	0.20883	2.794000	0.96219	0.655000	0.94253	GTG		0.507	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		54	162	0	0	0	1	0	54	162					A	10558261	C	A	10558261	3	1	20	1	0	0	0	0	1	0	0	0	10036	507	18	4	5857	4	MYH3	17	10558261	Missense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08		10558261	70636949	21	443											
APOH	350	broad.mit.edu	37	17	64212937	64212937	+	Silent	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:64212937C>A	ENST00000205948.6	-	6	790	c.753G>T	c.(751-753)ctG>ctT	p.L251L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	251	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACCAGTTTCCCAGTTTGGTAC	0.418																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(751-753)ctG>ctT		Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.							139	136	137					17																	64212937		2203	4300	6503	SO:0001819	synonymous_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64212937C>A		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.753G>T	17.37:g.64212937C>A			Somatic					p.L251L	NM_000042	NP_000033	WXS	Illumina GAIIx	Phase_I	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		5	812	-			251			Sushi 4.		B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	c.753G>T	CCDS11663.1																																																																																				0.418	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		4	108	0	0	0	1	0	4	108					A	64212937	C	A	64212937	2	1	20	1	0	0	0	0	0	0	0	1	804	581	21	4		4	APOH	17	64212937	Silent	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08	53654676	64212937	16982273	22	444											
FUT3	2525	broad.mit.edu	37	19	5844724	5844724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr19:5844724C>A	ENST00000303225.6	-	3	761	c.127G>T	c.(127-129)Gga>Tga	p.G43*	FUT3_ENST00000589918.1_Nonsense_Mutation_p.G43*|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Nonsense_Mutation_p.G43*|FUT3_ENST00000589620.1_Nonsense_Mutation_p.G43*|AC024592.9_ENST00000589276.1_RNA	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	43					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTAGGGGATCCAGTGGCATCG	0.622																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(127-129)Gga>Tga		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.							23	25	24					19																	5844724		2203	4300	6503	SO:0001587	stop_gained	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844724C>A		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.127G>T	19.37:g.5844724C>A	ENSP00000305603:p.Gly43*		Somatic				FUT3_uc002mdm.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdj.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdl.2_Nonsense_Mutation_p.G43*|FUT3_uc021unn.1_Nonsense_Mutation_p.G43*|BC033124_uc002mdn.3_5'Flank	p.G43*	NM_001097641	NP_001091110	WXS	Illumina GAIIx	Phase_I	P21217	FUT3_HUMAN			1	224	-			43					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Nonsense_Mutation	SNP	ENST00000303225.6	37	c.127G>T	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911321	0.33721	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	.	.	.	0.931	-1.86	0.07760	.	2.011830	0.02604	N	0.101372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	2.7676	0.05324	0.3013:0.3982:0.3005:0.0	.	.	.	.	X	43	.	ENSP00000305603:G43X	G	-	1	0	FUT3	5795724	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.701000	0.05075	-0.888000	0.03956	0.205000	0.17691	GGA		0.622	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		8	12	0	0	0	1	0	8	12					A	5844724	C	A	5844724	4	1	20	1	0	0	0	0	0	1	0	0	6105	603	21	4	962	4	FUT3	19	5844724	Nonsense_Mutation	SNP	C	TCGA-BJ-A28V-01A-11D-A19J-08		5844724	53284259	23	445											
DOK5	55816	broad.mit.edu	37	20	53267018	53267018	+	Nonstop_Mutation	SNP	A	A	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:53267018A>T	ENST00000262593.5	+	8	1271	c.921A>T	c.(919-921)tgA>tgT	p.*307C	DOK5_ENST00000395939.1_Nonstop_Mutation_p.*199C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	0					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CTGAGCACTGACAGTAACTGC	0.423																																						uc002xwy.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(919-921)tgA>tgT		Homo sapiens docking protein 5 (DOK5), mRNA.							83	70	74					20																	53267018		2203	4300	6503	SO:0001578	stop_lost	55816						insulin receptor binding	g.chr20:53267018A>T	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.921A>T	20.37:g.53267018A>T	ENSP00000262593:p.*307Cysext*2		Somatic					p.*307C	NM_018431	NP_060901	WXS	Illumina GAIIx	Phase_I	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		7	1141	+			0					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Nonstop_Mutation	SNP	ENST00000262593.5	37	c.921A>T	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402367	0.42613	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3115	0.74035	1.0:0.0:0.0:0.0	.	.	.	.	C	307;199	.	.	X	+	3	0	DOK5	52700425	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	5.981000	0.70524	2.207000	0.71202	0.533000	0.62120	TGA		0.423	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			4	45	0	0	0	1	0	4	45					T	53267018	A	T	53267018	4	4	20	1	0	0	0	0	0	0	0	0	4700	288	10	5	951	5	DOK5	20	53267018	Nonstop_Mutation	SNP	A	TCGA-BJ-A28V-01A-11D-A19J-08		53267018	9758502	24	446											
ZFYVE9	9372	broad.mit.edu	37	1	52703746	52703746	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:52703746G>A	ENST00000371591.1	+	3	788	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ZFYVE9_ENST00000287727.3_Silent_p.P219P|ZFYVE9_ENST00000357206.2_Silent_p.P219P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	219					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATAGACCGAAAACAGAGG	0.363																																						uc001cto.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(655-657)ccG>ccA		Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.							85	88	87					1																	52703746		2203	4300	6503	SO:0001819	synonymous_variant	9372				SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703746G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.657G>A	1.37:g.52703746G>A			Somatic				ZFYVE9_uc001ctn.3_Silent_p.P219P|ZFYVE9_uc001ctp.3_Silent_p.P219P	p.P219P	NM_004799	NP_004790	WXS	Illumina GAIIx	Phase_I	O95405	ZFYV9_HUMAN			3	829	+			219					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.657G>A	CCDS563.1																																																																																				0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		4	237	0	0	0	1	0	4	237					A	52703746	G	A	52703746	2	1	21	1	0	0	0	0	0	0	0	1	17668	1045	37	1		1	ZFYVE9	1	52703746	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		52703746	196546875	1	447											
TGFBR3	7049	broad.mit.edu	37	1	92262932	92262932	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:92262932G>A	ENST00000525962.1	-	2	219	c.158C>T	c.(157-159)gCc>gTc	p.A53V	TGFBR3_ENST00000212355.4_Missense_Mutation_p.A53V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A53V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	53					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCTCTGCTGGCACAGCCTGA	0.602																																						uc001doh.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(157-159)gCc>gTc		Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.							94	96	95					1																	92262932		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92262932G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.158C>T	1.37:g.92262932G>A	ENSP00000436127:p.Ala53Val		Somatic				TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.A11V|TGFBR3_uc001doi.3_Missense_Mutation_p.A53V|TGFBR3_uc001doj.3_Missense_Mutation_p.A53V	p.A53V	NM_003243	NP_003234	WXS	Illumina GAIIx	Phase_I	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	2	673	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	53					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.158C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093986	0.94149	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.24119	-1.0169	10	0.09084	T	0.74	-20.6722	20.0795	0.97766	0.0:0.0:1.0:0.0	.	53;53	Q03167-2;Q03167	.;TGBR3_HUMAN	V	53	ENSP00000212355:A53V;ENSP00000359426:A53V;ENSP00000436127:A53V;ENSP00000432638:A53V	ENSP00000212355:A53V	A	-	2	0	TGFBR3	92035520	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.916000	0.92745	2.747000	0.94245	0.650000	0.86243	GCC		0.602	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		5	280	0	0	0	1	0	5	280					A	92262932	G	A	92262932	3	1	21	1	0	0	0	0	1	0	0	0	15820	1203	42	2	2457	2	TGFBR3	1	92262932	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	39559186	92262932	156987689	2	448											
KCNC4	3749	broad.mit.edu	37	1	110754255	110754255	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:110754255C>T	ENST00000369787.3	+	1	161	c.134C>T	c.(133-135)aCg>aTg	p.T45M	KCNC4_ENST00000413138.3_Missense_Mutation_p.T45M|KCNC4-AS1_ENST00000455967.1_RNA|KCNC4_ENST00000438661.2_Missense_Mutation_p.T45M	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCGGCACGCGACATGAG	0.682																																						uc009wfr.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(133-135)aCg>aTg		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.							53	52	52					1																	110754255		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754255C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.134C>T	1.37:g.110754255C>T	ENSP00000358802:p.Thr45Met		Somatic				KCNC4_uc001dzf.3_Missense_Mutation_p.T45M|KCNC4_uc001dzh.3_Missense_Mutation_p.T45M|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.T45M	p.T45M	NM_001039574	NP_001034663	WXS	Illumina GAIIx	Phase_I	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	0	920	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	45					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.134C>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390136	0.42410	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.77489	-1.1;-1.1;-1.1	4.02	3.1	0.35709	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.49778	1.585	0.49582	D	0.999805	P;P;D	0.76494	0.67;0.619;0.999	B;B;D	0.68039	0.283;0.119;0.955	T	0.79988	-0.1571	10	0.66056	D	0.02	.	10.6474	0.45628	0.0:0.9034:0.0:0.0966	.	45;45;45	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	M	45	ENSP00000358802:T45M;ENSP00000388029:T45M;ENSP00000393655:T45M	ENSP00000358802:T45M	T	+	2	0	KCNC4	110555778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.794000	0.69067	1.800000	0.52685	0.462000	0.41574	ACG		0.682	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	67	0	0	0	1	0	3	67					T	110754255	C	T	110754255	3	4	21	1	0	0	0	0	1	0	0	0	8017	536	19	1	136	1	KCNC4	1	110754255	Missense_Mutation	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	18491323	110754255	138496366	3	449											
TMEM63A	9725	broad.mit.edu	37	1	226050509	226050509	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:226050509G>A	ENST00000366835.3	-	11	1059	c.789C>T	c.(787-789)tgC>tgT	p.C263C	TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	263					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCACGTTGTAGCACAGCTGCA	0.577																																						uc001hpm.2																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(787-789)tgC>tgT		Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.							115	81	93					1																	226050509		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226050509G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.789C>T	1.37:g.226050509G>A			Somatic					p.C263C	NM_014698	NP_055513	WXS	Illumina GAIIx	Phase_I	O94886	TM63A_HUMAN			10	1411	-	Breast(184;0.197)		263					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.789C>T	CCDS31042.1																																																																																				0.577	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		3	79	0	0	0	1	0	3	79					A	226050509	G	A	226050509	2	1	21	1	0	0	0	0	0	0	0	1	16187	963	34	2		2	TMEM63A	1	226050509	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	115296254	226050509	23200112	4	450											
MYH15	22989	broad.mit.edu	37	3	108224618	108224618	+	Silent	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr3:108224618T>C	ENST00000273353.3	-	3	263	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	69						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K69K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCACTCCCTTTTACCTCAG	0.348																																						uc003dxa.1																			1	Substitution - coding silent(1)	p.K69K(2)|p.V68L(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(205-207)aaA>aaG		Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.							212	197	202					3																	108224618		1876	4133	6009	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr3:108224618T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.207A>G	3.37:g.108224618T>C			Somatic					p.K69K	NM_014981	NP_055796	WXS	Illumina GAIIx	Phase_I	Q9Y2K3	MYH15_HUMAN			2	264	-			69			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.207A>G	CCDS43127.1																																																																																				0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		3	244	0	0	0	1	0	3	244					C	108224618	T	C	108224618	2	2	21	1	0	0	0	0	0	0	0	1	10034	1606	56	3		3	MYH15	3	108224618	Silent	SNP	T	TCGA-BJ-A28X-01A-11D-A22D-08		108224618	89797812	5	451											
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					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)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	8e-04	0	5008	,	,		13350	0		0	False		,,,				2504	0.001					uc010icw.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		Homo sapiens HGF activator (HGFAC), mRNA.							13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G			Somatic				HGFAC_uc003ghc.3_Silent_p.L23L	p.L23L	NM_001528	NP_001519	WXS	Illumina GAIIx	Phase_I	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	0	72	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	46	0	0	0	1	0	3	46					G	3443797	C	G	3443797	2	3	21	1	0	0	0	0	0	0	0	1	7086	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08		3443797	187710479	6	452											
PRRC1	133619	broad.mit.edu	37	5	126887496	126887496	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:126887496G>A	ENST00000296666.8	+	9	1414	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.R409Q|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	409						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AATGTCAGCCGGACTGATTGG	0.527																																						uc003kuk.3																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1225-1227)cGg>cAg		Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.							99	99	99					5																	126887496		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126887496G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1226G>A	5.37:g.126887496G>A	ENSP00000296666:p.Arg409Gln		Somatic				PRRC1_uc003kuj.4_3'UTR|PRRC1_uc021ydd.1_5'Flank	p.R409Q	NM_130809	NP_570721	WXS	Illumina GAIIx	Phase_I	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	8	1406	+		Prostate(80;0.165)	409					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1226G>A	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232150	0.79688	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	L	0.48362	1.52	0.80722	D	1	B	0.33135	0.399	B	0.16722	0.016	T	0.50825	-0.8782	9	0.44086	T	0.13	-16.3773	18.2643	0.90048	0.0:0.0:1.0:0.0	.	409	Q96M27	PRRC1_HUMAN	Q	409	.	ENSP00000296666:R409Q	R	+	2	0	PRRC1	126915395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.788000	0.95919	0.557000	0.71058	CGG		0.527	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		3	115	0	0	0	1	0	3	115					A	126887496	G	A	126887496	3	1	21	1	0	0	0	0	1	0	0	0	12604	1116	39	1	1256	1	PRRC1	5	126887496	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		126887496	54027764	7	453											
PCDHB5	26167	broad.mit.edu	37	5	140516096	140516096	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:140516096G>A	ENST00000231134.5	+	1	1297	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	360	Cadherin 4. {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)	p.P360P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCCCCGGAAACTGTAG	0.502																																						uc003liq.3																			1	Substitution - coding silent(1)	p.P360P(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1078-1080)ccG>ccA		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							81	88	86					5																	140516096		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516096G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1080G>A	5.37:g.140516096G>A			Somatic					p.P360P	NM_015669	NP_056484	WXS	Illumina GAIIx	Phase_I	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1297	+			360			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1080G>A	CCDS4247.1																																																																																				0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		3	159	0	0	0	1	0	3	159					A	140516096	G	A	140516096	2	1	21	1	0	0	0	0	0	0	0	1	11545	1103	39	1		1	PCDHB5	5	140516096	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	13628600	140516096	40399164	8	454											
CTTNBP2	83992	broad.mit.edu	37	7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:117368303A>G	ENST00000160373.3	-	17	3986	c.3895T>C	c.(3895-3897)Tcc>Ccc	p.S1299P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1299					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)		TCGCAGGGGGAGGGCGCCTGA	0.512																																						uc003vjf.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.(3895-3897)Tcc>Ccc		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							79	90	86					7																	117368303		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368303A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3895T>C	7.37:g.117368303A>G	ENSP00000160373:p.Ser1299Pro		Somatic					p.S1299P	NM_033427	NP_219499	WXS	Illumina GAIIx	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3987	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1299					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3895T>C	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.572|7.572	0.666994|0.666994	0.14710|0.14710	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.90788	.|-2.73	5.22|5.22	1.42|1.42	0.22433|0.22433	.|.	.|0.446324	.|0.26143	.|N	.|0.026099	D|D	0.85526|0.85526	0.5717|0.5717	L|L	0.58669|0.58669	1.825|1.825	0.23515|0.23515	N|N	0.997519|0.997519	.|B	.|0.11235	.|0.004	.|B	.|0.10450	.|0.005	T|T	0.74466|0.74466	-0.3656|-0.3656	5|10	.|0.46703	.|T	.|0.11	22.8976|22.8976	5.3613|5.3613	0.16089|0.16089	0.4928:0.3126:0.1945:0.0|0.4928:0.3126:0.1945:0.0	.|.	.|1299	.|Q8WZ74	.|CTTB2_HUMAN	P|P	786|1299	.|ENSP00000160373:S1299P	.|ENSP00000160373:S1299P	L|S	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155539|117155539	0.997000|0.997000	0.39634|0.39634	0.176000|0.176000	0.23000|0.23000	0.378000|0.378000	0.30076|0.30076	1.390000|1.390000	0.34464|0.34464	0.053000|0.053000	0.16036|0.16036	-0.280000|-0.280000	0.10049|0.10049	CTC|TCC		0.512	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	237	0	0	0	1	0	3	237					G	117368303	A	G	117368303	3	3	21	1	0	0	0	0	1	0	0	0	4045	304	11	3	1124	3	CTTNBP2	7	117368303	Missense_Mutation	SNP	A	TCGA-BJ-A28X-01A-11D-A22D-08		117368303	41770360	9	455											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	134	0	0	0	1	0	29	134					T	140453136	A	T	140453136	3	4	21	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A28X-01A-11D-A22D-08	23084833	140453136	18685527	10	456											
GIMAP8	155038	broad.mit.edu	37	7	150163814	150163814	+	Missense_Mutation	SNP	G	G	A	rs143529569		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:150163814G>A	ENST00000307271.3	+	2	602	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	10	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E10K(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGATGTCCGAACTGCGGCT	0.507																																						uc003whj.3																			2	Substitution - Missense(2)	p.E10K(4)	large_intestine(1)|skin(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(28-30)Gaa>Aaa		Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.							48	51	50					7																	150163814		2203	4300	6503	SO:0001583	missense	155038					Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	g.chr7:150163814G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.28G>A	7.37:g.150163814G>A	ENSP00000305107:p.Glu10Lys		Somatic					p.E10K	NM_175571	NP_783161	WXS	Illumina GAIIx	Phase_I	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	1	358	+			10						Missense_Mutation	SNP	ENST00000307271.3	37	c.28G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271644	0.59649	.	.	ENSG00000171115	ENST00000307271	T	0.61274	0.12	4.48	-5.23	0.02798	.	1.488750	0.04286	N	0.344696	T	0.49541	0.1563	L	0.50847	1.595	0.09310	N	1	D	0.67145	0.996	P	0.49683	0.619	T	0.50676	-0.8800	10	0.18710	T	0.47	.	1.8855	0.03237	0.3116:0.3671:0.1974:0.1239	.	10	Q8ND71	GIMA8_HUMAN	K	10	ENSP00000305107:E10K	ENSP00000305107:E10K	E	+	1	0	GIMAP8	149794747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.230000	0.17852	-1.051000	0.03226	-0.844000	0.03045	GAA		0.507	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		3	99	0	0	0	1	0	3	99					A	150163814	G	A	150163814	3	1	21	1	0	0	0	0	1	0	0	0	6385	1059	37	1	30	1	GIMAP8	7	150163814	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	9710678	150163814	8974849	11	457											
SETX	23064	broad.mit.edu	37	9	135173645	135173645	+	Missense_Mutation	SNP	G	G	A	rs370368422		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr9:135173645G>A	ENST00000224140.5	-	13	5785	c.5603C>T	c.(5602-5604)cCg>cTg	p.P1868L	SETX_ENST00000393220.1_Missense_Mutation_p.P1868L|SETX_ENST00000372169.2_Missense_Mutation_p.P1868L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1868					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)		TAAATTGGCCGGAAAGTTCTC	0.388																																						uc004cbk.3																			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.(5602-5604)cCg>cTg		Homo sapiens senataxin (SETX), mRNA.		G	LEU/PRO	0,4406		0,0,2203	98	95	96		5603	5.7	0.1	9		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1868/2678	135173645	1,13005	2203	4300	6503	SO:0001583	missense	23064				RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135173645G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5603C>T	9.37:g.135173645G>A	ENSP00000224140:p.Pro1868Leu		Somatic				SETX_uc004cbj.3_Missense_Mutation_p.P1487L|SETX_uc010mzt.3_Missense_Mutation_p.P1487L	p.P1868L	NM_015046	NP_055861	WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	12	5786	-		Myeloproliferative disorder(178;0.204)	1868					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.5603C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471479	0.63737	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90197	-2.08;-2.63;-2.17;-1.8	5.72	5.72	0.89469	.	0.189487	0.37219	N	0.002192	D	0.88724	0.6514	L	0.29908	0.895	0.37388	D	0.912315	B;D;D	0.63880	0.042;0.987;0.993	B;P;P	0.51079	0.019;0.456;0.658	D	0.87891	0.2684	10	0.23302	T	0.38	.	16.5947	0.84792	0.0:0.0:1.0:0.0	.	1868;1868;1868	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	1868;110;1868;1868	ENSP00000224140:P1868L;ENSP00000409143:P110L;ENSP00000361242:P1868L;ENSP00000376913:P1868L	ENSP00000224140:P1868L	P	-	2	0	SETX	134163466	0.589000	0.26807	0.092000	0.20876	0.761000	0.43186	2.864000	0.48404	2.696000	0.92011	0.591000	0.81541	CCG		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	106	0	0	0	1	0	3	106					A	135173645	G	A	135173645	3	1	21	1	0	0	0	0	1	0	0	0	14141	1116	39	1	2486	1	SETX	9	135173645	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		135173645	6039786	12	458											
CNTF	1270	broad.mit.edu	37	11	58390308	58390308	+	Missense_Mutation	SNP	G	G	A	rs139149169		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58390308G>A	ENST00000361987.4	+	1	163	c.83G>A	c.(82-84)cGt>cAt	p.R28H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	28					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGATTCGTTCAGACCTG	0.483													G|||	1	0.000199681	0	0	5008	,	,		18782	0		0.001	False		,,,				2504	0					uc001nna.4																			0		p.R28C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10						c.(82-84)cGt>cAt		Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.		G	HIS/ARG	4,4398	6.2+/-15.9	0,4,2197	127	117	120		83	2.3	1.0	11	dbSNP_134	120	10,8580	7.7+/-29.5	0,10,4285	yes	missense	CNTF	NM_000614.3	29	0,14,6482	AA,AG,GG		0.1164,0.0909,0.1078	probably-damaging	28/201	58390308	14,12978	2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58390308G>A	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.83G>A	11.37:g.58390308G>A	ENSP00000355370:p.Arg28His		Somatic				CNTF_uc010rkm.2_Non-coding_Transcript	p.R28H	NM_000614	NP_000605	WXS	Illumina GAIIx	Phase_I	P26441	CNTF_HUMAN			0	163	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	28					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.83G>A	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953376	0.53293	9.09E-4	0.001164	ENSG00000242689	ENST00000361987	T	0.46063	0.88	5.16	2.3	0.28687	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.39784	0.1091	M	0.67953	2.075	0.35143	D	0.769012	B	0.20459	0.045	B	0.18871	0.023	T	0.47129	-0.9141	9	0.72032	D	0.01	-12.4163	8.7308	0.34498	0.2424:0.0:0.7576:0.0	.	28	P26441	CNTF_HUMAN	H	28	ENSP00000355370:R28H	ENSP00000447778:R28H	R	+	2	0	CNTF	58146884	1.000000	0.71417	0.996000	0.52242	0.495000	0.33615	2.425000	0.44723	0.439000	0.26476	-0.126000	0.14955	CGT		0.483	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		13	49	0	0	0	1	0	13	49					A	58390308	G	A	58390308	3	1	21	1	0	0	0	0	1	0	0	0	3637	1145	40	1	85	1	CNTF	11	58390308	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		58390308	76616208	13	459											
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A	rs371989300		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						uc001nnl.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.		G	,,	1,4401	2.1+/-5.4	0,1,2200	68	75	73		1014,1014,1104	-0.8	0.0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A			Somatic				FAM111B_uc001nnm.3_Silent_p.P338P|FAM111B_uc010rko.2_Silent_p.P338P|FAM111B_uc021qjn.1_Silent_p.P338P	p.P368P	NM_198947	NP_001136176	WXS	Illumina GAIIx	Phase_I	Q6SJ93	F111B_HUMAN			3	1347	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		4	229	0	0	0	1	0	4	229					A	58892674	G	A	58892674	2	1	21	1	0	0	0	0	0	0	0	1	5400	1074	38	1		1	FAM111B	11	58892674	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	502366	58892674	76113842	14	460											
OSBP	5007	broad.mit.edu	37	11	59377967	59377967	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:59377967T>C	ENST00000263847.1	-	2	937	c.458A>G	c.(457-459)aAt>aGt	p.N153S		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	153	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCACCCCCATTGGAAATGAT	0.537																																						uc001noc.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(457-459)aAt>aGt		Homo sapiens oxysterol binding protein (OSBP), mRNA.							169	150	156					11																	59377967		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59377967T>C	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.458A>G	11.37:g.59377967T>C	ENSP00000263847:p.Asn153Ser		Somatic					p.N153S	NM_002556	NP_002547	WXS	Illumina GAIIx	Phase_I	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	1	938	-		all_epithelial(135;0.000236)	153			PH.		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.458A>G	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457043	0.26161	.	.	ENSG00000110048	ENST00000263847	T	0.75704	-0.96	5.68	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.145690	0.64402	D	0.000008	T	0.61464	0.2349	N	0.11364	0.135	0.58432	D	0.999991	B	0.27286	0.174	B	0.42916	0.402	T	0.51733	-0.8668	10	0.07482	T	0.82	-25.4067	11.3214	0.49424	0.0:0.072:0.0:0.928	.	153	P22059	OSBP1_HUMAN	S	153	ENSP00000263847:N153S	ENSP00000263847:N153S	N	-	2	0	OSBP	59134543	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	6.290000	0.72712	0.979000	0.38497	-0.256000	0.11100	AAT		0.537	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			41	119	0	0	0	1	0	41	119					C	59377967	T	C	59377967	3	2	21	1	0	0	0	0	1	0	0	0	11273	1493	52	3	2017	3	OSBP	11	59377967	Missense_Mutation	SNP	T	TCGA-BJ-A28X-01A-11D-A22D-08	485293	59377967	75628549	15	461											
CD4	920	broad.mit.edu	37	12	6927643	6927643	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:6927643G>A	ENST00000011653.4	+	8	1471	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		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	405					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)	GCTGGGGGGCGTCGCCGGCCT	0.622																																						uc001qqv.2																			0		p.G404G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(1213-1215)Gtc>Atc		Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.							81	76	78					12																	6927643		2203	4300	6503	SO:0001583	missense	920				T cell costimulation|T cell receptor signaling pathway|T cell selection|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|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6927643G>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1213G>A	12.37:g.6927643G>A	ENSP00000011653:p.Val405Ile		Somatic				CD4_uc010sfj.2_Missense_Mutation_p.V132I|CD4_uc009zfc.2_Missense_Mutation_p.V226I|CD4_uc010sfl.2_Missense_Mutation_p.V132I|CD4_uc010sfk.2_Missense_Mutation_p.V132I|CD4_uc010sfm.1_Missense_Mutation_p.V132I	p.V405I	NM_000616	NP_000607	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			7	1471	+		Myeloproliferative disorder(1001;0.0122)	405					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.1213G>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887456	0.02511	.	.	ENSG00000010610	ENST00000011653	T	0.22134	1.97	4.23	-7.83	0.01201	.	5.286540	0.00357	N	0.000031	T	0.07954	0.0199	N	0.12746	0.255	0.09310	N	0.999999	B;P	0.35226	0.024;0.491	B;B	0.22753	0.003;0.041	T	0.14504	-1.0470	10	0.19147	T	0.46	-6.7019	6.0682	0.19875	0.5671:0.0:0.1977:0.2352	.	226;405	B0AZV7;P01730	.;CD4_HUMAN	I	405	ENSP00000011653:V405I	ENSP00000011653:V405I	V	+	1	0	CD4	6797904	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.849000	0.01672	-2.457000	0.00539	-1.108000	0.02087	GTC		0.622	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		4	145	0	0	0	1	0	4	145					A	6927643	G	A	6927643	3	1	21	1	0	0	0	0	1	0	0	0	3014	1145	40	1	1239	1	CD4	12	6927643	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		6927643	126924252	16	462											
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:55725701G>A	ENST00000379667.1	+	1	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	73					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(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428																																						uc010spj.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(217-219)Gta>Ata		Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.			ILE/VAL	0,4406		0,0,2203	95	105	102		217	4.1	0.4	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6C3	NM_054104.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	73/312	55725701	1,13005	2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725701G>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.217G>A	12.37:g.55725701G>A	ENSP00000368989:p.Val73Ile		Somatic					p.V73I	NM_054104	NP_473445	WXS	Illumina GAIIx	Phase_I	Q9NZP0	OR6C3_HUMAN			0	217	+			73						Missense_Mutation	SNP	ENST00000379667.1	37	c.217G>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446486	0.43429	0.0	1.16E-4	ENSG00000205329	ENST00000379667	T	0.01234	5.13	5.02	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.158118	0.29424	N	0.012191	T	0.02047	0.0064	L	0.45581	1.43	0.09310	N	1	D	0.54772	0.968	P	0.46629	0.522	T	0.49303	-0.8954	10	0.49607	T	0.09	.	6.1286	0.20194	0.1514:0.0:0.6839:0.1648	.	73	Q9NZP0	OR6C3_HUMAN	I	73	ENSP00000368989:V73I	ENSP00000368989:V73I	V	+	1	0	OR6C3	54011968	0.000000	0.05858	0.410000	0.26471	0.610000	0.37248	0.690000	0.25451	2.771000	0.95319	0.461000	0.40582	GTA		0.428	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			4	149	0	0	0	1	0	4	149					A	55725701	G	A	55725701	3	1	21	1	0	0	0	0	1	0	0	0	11192	1145	40	1	219	1	OR6C3	12	55725701	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	48798058	55725701	78126194	17	463											
LEMD3	23592	broad.mit.edu	37	12	65564560	65564560	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:65564560G>A	ENST00000308330.2	+	1	1210	c.1184G>A	c.(1183-1185)gGt>gAt	p.G395D	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	395					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CATATTGGCGGTGGGGCCTTC	0.537																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1183-1185)gGt>gAt		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							62	71	68					12																	65564560		2203	4300	6503	SO:0001583	missense	23592				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564560G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1184G>A	12.37:g.65564560G>A	ENSP00000308369:p.Gly395Asp		Somatic				LEMD3_uc009zqo.2_Missense_Mutation_p.G395D	p.G395D	NM_014319	NP_055134	WXS	Illumina GAIIx	Phase_I	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	0	1210	+			395					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1184G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997963	0.35226	.	.	ENSG00000174106	ENST00000308330	T	0.51817	0.69	3.96	3.04	0.35103	.	0.413267	0.21710	N	0.070297	T	0.29945	0.0749	N	0.19112	0.55	0.29690	N	0.841036	B	0.27559	0.181	B	0.21151	0.033	T	0.14896	-1.0456	9	.	.	.	-1.5237	13.0416	0.58901	0.0:0.164:0.836:0.0	.	395	Q9Y2U8	MAN1_HUMAN	D	395	ENSP00000308369:G395D	.	G	+	2	0	LEMD3	63850827	1.000000	0.71417	0.896000	0.35187	0.803000	0.45373	4.204000	0.58460	1.203000	0.43233	0.462000	0.41574	GGT		0.537	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			4	180	0	0	0	1	0	4	180					A	65564560	G	A	65564560	3	1	21	1	0	0	0	0	1	0	0	0	8721	1261	44	2	1186	2	LEMD3	12	65564560	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	9838859	65564560	68287335	18	464											
ADCY4	196883	broad.mit.edu	37	14	24798362	24798362	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:24798362G>A	ENST00000310677.4	-	11	1542	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	ADCY4_ENST00000554068.2_Silent_p.L477L|ADCY4_ENST00000418030.2_Silent_p.L477L|ADCY4_ENST00000396747.3_Silent_p.L170L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	477					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)		CGGGTCATCAGCAGTGATGGA	0.622																																						uc001wow.3																			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.(1429-1431)Ctg>Ttg		Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.							132	122	125					14																	24798362		2203	4300	6503	SO:0001819	synonymous_variant	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	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	g.chr14:24798362G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1429C>T	14.37:g.24798362G>A			Somatic				ADCY4_uc010toh.2_Silent_p.L163L|ADCY4_uc001wox.3_Silent_p.L477L|ADCY4_uc001woy.3_Silent_p.L477L	p.L477L	NM_001198568	NP_001185497	WXS	Illumina GAIIx	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	9	1848	-			477					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1429C>T	CCDS9627.1																																																																																				0.622	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	96	0	0	0	1	0	3	96					A	24798362	G	A	24798362	2	1	21	1	0	0	0	0	0	0	0	1	296	962	34	2		2	ADCY4	14	24798362	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		24798362	82551178	19	465											
C14orf135	64430	broad.mit.edu	37	14	60591629	60591629	+	Missense_Mutation	SNP	G	G	A	rs141333786		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:60591629G>A	ENST00000406854.1	+	9	3294	c.2740G>A	c.(2740-2742)Gca>Aca	p.A914T	PCNXL4_ENST00000404681.2_Missense_Mutation_p.A914T|PCNXL4_ENST00000317623.4_Missense_Mutation_p.A680T|PCNXL4_ENST00000535349.1_Missense_Mutation_p.A121T|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A680T			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	914						integral component of membrane (GO:0016021)											ATGCTTACCCGCAGAGTGGAG	0.433																																						uc001xer.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18						c.(2038-2040)Gca>Aca		Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.		G	THR/ALA	0,4406		0,0,2203	105	110	109		2038	2.1	0.9	14	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	C14orf135	NM_022495.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	680/939	60591629	1,13005	2203	4300	6503	SO:0001583	missense	64430					integral to membrane		g.chr14:60591629G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2740G>A	14.37:g.60591629G>A	ENSP00000384801:p.Ala914Thr		Somatic				C14orf135_uc001xeq.2_Missense_Mutation_p.A680T|C14orf135_uc010apm.3_Non-coding_Transcript	p.A680T	NM_022495	NP_071940	WXS	Illumina GAIIx	Phase_I	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	7	2560	+		Myeloproliferative disorder(585;0.163)	914					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2038G>A		.	.	.	.	.	.	.	.	.	.	G	6.817	0.519841	0.13005	0.0	1.16E-4	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.29397	1.99;1.99;1.99;1.99;1.57	4.99	2.08	0.27032	.	0.485632	0.24740	N	0.035983	T	0.10809	0.0264	N	0.08118	0	0.19300	N	0.999974	B;B	0.32620	0.065;0.378	B;B	0.19148	0.002;0.024	T	0.28586	-1.0039	10	0.15952	T	0.53	.	7.0604	0.25123	0.1459:0.2644:0.5897:0.0	.	914;680	Q63HM2;B5MC47	CN135_HUMAN;.	T	680;914;680;914;121	ENSP00000317396:A680T;ENSP00000384801:A914T;ENSP00000385201:A680T;ENSP00000385713:A914T;ENSP00000445644:A121T	ENSP00000317396:A680T	A	+	1	0	C14orf135	59661382	0.980000	0.34600	0.924000	0.36721	0.710000	0.40934	1.970000	0.40520	0.210000	0.20664	0.305000	0.20034	GCA		0.433	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		4	217	0	0	0	1	0	4	217					A	60591629	G	A	60591629	3	1	21	1	0	0	0	0	1	0	0	0	1745	1087	38	1	2064	1	C14orf135	14	60591629	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	35793267	60591629	46757911	20	466											
C14orf145	145508	broad.mit.edu	37	14	81251451	81251451	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:81251451C>T	ENST00000555265.1	-	15	2374	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	CEP128_ENST00000281129.3_Missense_Mutation_p.D667N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	667						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGTGAGGTCAGAAAGGTCC	0.478																																						uc001xux.2																			0		p.D667V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1999-2001)Gac>Aac		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							232	186	202					14																	81251451		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81251451C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1999G>A	14.37:g.81251451C>T	ENSP00000451162:p.Asp667Asn		Somatic				CEP128_uc010asz.2_Non-coding_Transcript	p.D667N	NM_152446	NP_689659	WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			13	2170	-			667					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1999G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274203	0.40194	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.38887	1.11;1.11	6.15	4.3	0.51218	.	0.126644	0.51477	D	0.000086	T	0.43366	0.1244	L	0.46157	1.445	0.80722	D	1	P	0.46142	0.873	B	0.43658	0.426	T	0.50709	-0.8796	10	0.66056	D	0.02	.	17.3776	0.87397	0.0:0.7658:0.2341:0.0	.	667	Q6ZU80	CE128_HUMAN	N	667	ENSP00000281129:D667N;ENSP00000451162:D667N	ENSP00000281129:D667N	D	-	1	0	CEP128	80321204	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.813000	0.48002	1.634000	0.50500	-0.134000	0.14843	GAC		0.478	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		43	160	0	0	0	1	0	43	160					T	81251451	C	T	81251451	3	4	21	1	0	0	0	0	1	0	0	0	1749	826	29	2	1329	2	C14orf145	14	81251451	Missense_Mutation	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	20659822	81251451	26098089	21	467											
INF2	64423	broad.mit.edu	37	14	105175025	105175025	+	Silent	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:105175025C>T	ENST00000392634.4	+	10	2017	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	INF2_ENST00000330634.7_Silent_p.A635A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	635	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTCGATGCCAAGAAGAGCC	0.622											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ypb.2																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1903-1905)gcC>gcT		Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.							109	122	118					14																	105175025		1984	4167	6151	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	g.chr14:105175025C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1905C>T	14.37:g.105175025C>T			Somatic	OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_uc001ypc.2_Silent_p.A635A|INF2_uc010awz.1_Non-coding_Transcript	p.A635A	NM_022489	NP_071934	WXS	Illumina GAIIx	Phase_I	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	9	2048	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	635			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1905C>T	CCDS9989.2																																																																																				0.622	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		13	181	0	0	0	1	0	13	181					T	105175025	C	T	105175025	2	4	21	1	0	0	0	0	0	0	0	1	7734	581	21	2		2	INF2	14	105175025	Silent	SNP	C	TCGA-BJ-A28X-01A-11D-A22D-08	23923574	105175025	2174515	22	468											
ZNF770	54989	broad.mit.edu	37	15	35274879	35274879	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr15:35274879G>A	ENST00000356321.4	-	3	1101	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	253					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(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATTCTGTACGCCTCTTCTTT	0.368																																						uc001ziw.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(757-759)Cgt>Tgt		Homo sapiens zinc finger protein 770 (ZNF770), mRNA.							41	43	42					15																	35274879		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274879G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.757C>T	15.37:g.35274879G>A	ENSP00000348673:p.Arg253Cys		Somatic				ZNF770_uc021siy.1_Missense_Mutation_p.R253C	p.R253C	NM_014106	NP_054825	WXS	Illumina GAIIx	Phase_I	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	2	1111	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	253					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.757C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	2.255	-0.370584	0.05069	.	.	ENSG00000198146	ENST00000356321	T	0.10099	2.91	5.17	4.05	0.47172	.	0.463790	0.19982	U	0.101745	T	0.05640	0.0148	N	0.08118	0	0.19945	N	0.999941	P	0.51653	0.947	B	0.38296	0.27	T	0.20273	-1.0280	10	0.87932	D	0	-0.0212	11.4796	0.50318	0.0:0.0:0.1582:0.8418	.	253	Q6IQ21	ZN770_HUMAN	C	253	ENSP00000348673:R253C	ENSP00000348673:R253C	R	-	1	0	ZNF770	33062171	0.862000	0.29867	0.023000	0.16930	0.042000	0.13812	1.419000	0.34793	0.991000	0.38814	-0.262000	0.10625	CGT		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		3	59	0	0	0	1	0	3	59					A	35274879	G	A	35274879	3	1	21	1	0	0	0	0	1	0	0	0	18140	1087	38	1	1322	1	ZNF770	15	35274879	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		35274879	67256513	23	469											
MEFV	4210	broad.mit.edu	37	16	3304298	3304298	+	Missense_Mutation	SNP	G	G	A	rs201025181		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:3304298G>A	ENST00000219596.1	-	2	809	c.770C>T	c.(769-771)cCa>cTa	p.P257L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	257					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						GAGAATTTCTGGATTTGCGGG	0.577													G|||	1	0.000199681	0	0	5008	,	,		13560	0.001		0	False		,,,				2504	0					uc002cun.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.(769-771)cCa>cTa		Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	Colchicine(DB01394)						116	132	127					16																	3304298		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304298G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.770C>T	16.37:g.3304298G>A	ENSP00000219596:p.Pro257Leu		Somatic				MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	p.P257L	NM_000243	NP_000234	WXS	Illumina GAIIx	Phase_I	O15553	MEFV_HUMAN			1	810	-			257					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.770C>T	CCDS10498.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.80	2.045150	0.36085	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.70631	-0.5	5.31	3.3	0.37823	.	0.840199	0.10448	N	0.673403	T	0.69043	0.3067	L	0.48642	1.525	0.09310	N	0.99999	D	0.56521	0.976	P	0.48524	0.58	T	0.57963	-0.7720	10	0.87932	D	0	-16.218	8.8325	0.35093	0.0:0.1631:0.6679:0.1691	.	257	O15553	MEFV_HUMAN	L	257	ENSP00000219596:P257L	ENSP00000219596:P257L	P	-	2	0	MEFV	3244299	0.247000	0.23920	0.002000	0.10522	0.137000	0.21094	1.308000	0.33528	0.835000	0.34877	0.655000	0.94253	CCA		0.577	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		48	178	0	0	0	1	0	48	178					A	3304298	G	A	3304298	3	1	21	1	0	0	0	0	1	0	0	0	9459	1348	47	2	1611	2	MEFV	16	3304298	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		3304298	87050455	24	470											
GPRC5B	51704	broad.mit.edu	37	16	19883499	19883499	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:19883499G>A	ENST00000300571.2	-	2	860	c.669C>T	c.(667-669)tgC>tgT	p.C223C	GPRC5B_ENST00000569847.1_Silent_p.C223C|GPRC5B_ENST00000535671.1_Silent_p.C223C|GPRC5B_ENST00000537135.1_Silent_p.C249C|GPRC5B_ENST00000569479.1_Silent_p.C223C	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	223					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACTTGCCGCACAGAGTGA	0.592																																						uc010vav.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(745-747)tgC>tgT		Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.							129	114	119					16																	19883499		2197	4300	6497	SO:0001819	synonymous_variant	51704							g.chr16:19883499G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.669C>T	16.37:g.19883499G>A			Somatic				GPRC5B_uc021tef.1_Silent_p.C215C|GPRC5B_uc002dgt.3_Silent_p.C223C	p.C249C	NM_016235	NP_057319	WXS	Illumina GAIIx	Phase_I	Q9NZH0	GPC5B_HUMAN			1	978	-			223					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.747C>T	CCDS10581.1																																																																																				0.592	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			3	133	0	0	0	1	0	3	133					A	19883499	G	A	19883499	2	1	21	1	0	0	0	0	0	0	0	1	6725	1079	38	1		1	GPRC5B	16	19883499	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	16579201	19883499	70471254	25	471											
ATP6V0D1	9114	broad.mit.edu	37	16	67473189	67473189	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:67473189G>A	ENST00000290949.3	-	5	777	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Silent_p.C132C|ATP6V0D1_ENST00000540149.1_Silent_p.C250C	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	209					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCAGGATGGGGCACATGGCAT	0.627																																						uc010vjo.1																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(748-750)tgC>tgT		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.							73	61	65					16																	67473189		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67473189G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.627C>T	16.37:g.67473189G>A			Somatic				ATP6V0D1_uc002ete.1_Silent_p.C209C|ATP6V0D1_uc010vjn.1_Silent_p.C132C	p.C250C	NM_004691	NP_004682	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	5	850	-		Ovarian(137;0.0563)	209					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.750C>T	CCDS10838.1																																																																																				0.627	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		4	94	0	0	0	1	0	4	94					A	67473189	G	A	67473189	2	1	21	1	0	0	0	0	0	0	0	1	1173	1195	42	2		2	ATP6V0D1	16	67473189	Silent	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08	47589690	67473189	22881564	26	472											
AP2B1	163	broad.mit.edu	37	17	34009806	34009806	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr17:34009806G>A	ENST00000262325.7	+	17	2928	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	AP2B1_ENST00000537622.2_Missense_Mutation_p.G806D|AP2B1_ENST00000312678.8_Missense_Mutation_p.G806D|AP2B1_ENST00000592545.1_Missense_Mutation_p.G768D|AP2B1_ENST00000538556.1_Missense_Mutation_p.G735D|AP2B1_ENST00000589344.1_Missense_Mutation_p.G806D|AP2B1_ENST00000545922.2_3'UTR|CTC-507E2.1_ENST00000588135.1_RNA	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	792					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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATACCTTGGGCCCAGTCATG	0.438																																						uc002hjq.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2416-2418)gGc>gAc		Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 1, mRNA.							99	85	89					17																	34009806		2203	4300	6503	SO:0001583	missense	163				axon guidance|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|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34009806G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2375G>A	17.37:g.34009806G>A	ENSP00000262325:p.Gly792Asp		Somatic				AP2B1_uc002hjr.3_Missense_Mutation_p.G792D|AP2B1_uc010wci.2_Missense_Mutation_p.G768D|AP2B1_uc002hjs.3_Missense_Mutation_p.G735D|AP2B1_uc002hjt.3_Missense_Mutation_p.G806D|AP2B1_uc010ctv.3_Missense_Mutation_p.G806D|AP2B1_uc010wcj.2_Missense_Mutation_p.G543D	p.G806D	NM_001030006	NP_001025177	WXS	Illumina GAIIx	Phase_I	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	17	2606	+		Ovarian(249;0.17)	792					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2417G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001666	0.93227	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.31	5.31	0.75309	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.87381	2.88	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;0.998;1.0	T	0.76179	-0.3054	10	0.72032	D	0.01	-11.4818	17.9619	0.89087	0.0:0.0:1.0:0.0	.	543;768;792;806	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	D	792;806;735;806;543	ENSP00000262325:G792D;ENSP00000314414:G806D;ENSP00000440563:G735D;ENSP00000437413:G806D	ENSP00000262325:G792D	G	+	2	0	AP2B1	31033919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.668000	0.98619	2.483000	0.83821	0.650000	0.86243	GGC		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	137	0	0	0	1	0	4	137					A	34009806	G	A	34009806	3	1	21	1	0	0	0	0	1	0	0	0	741	1203	42	2	2483	2	AP2B1	17	34009806	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		34009806	47185404	27	473											
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr20:62324212G>A	ENST00000360203.5	+	29	3032	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000318100.4_Missense_Mutation_p.V903M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642																																						uc021wge.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2707-2709)Gtg>Atg		Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	0,4392		0,0,2196	86	78	80		2707,2779	4.6	0.9	20	dbSNP_134	80	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense	RTEL1	NM_016434.3,NM_032957.4	21,21	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	903/1220,927/1244	62324212	1,12973	2196	4291	6487	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324212G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2707G>A	20.37:g.62324212G>A	ENSP00000353332:p.Val903Met		Somatic				RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V903M|RTEL1_uc011abd.2_Missense_Mutation_p.V927M|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V680M|RTEL1_uc002yfx.1_Missense_Mutation_p.V148M|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	p.V903M	NM_016434	NP_057518	WXS	Illumina GAIIx	Phase_I	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		27	2877	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		903						Missense_Mutation	SNP	ENST00000360203.5	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660166	0.47572	0.0	1.17E-4	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.59	4.59	0.56863	.	0.111999	0.64402	D	0.000010	T	0.31009	0.0783	L	0.61387	1.9	0.39435	D	0.967157	D;D;D;D	0.89917	0.968;1.0;0.991;0.975	P;D;P;P	0.91635	0.714;0.999;0.791;0.742	T	0.05835	-1.0861	10	0.56958	D	0.05	-27.1972	16.5163	0.84301	0.0:0.0:1.0:0.0	.	927;148;903;903	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	M	903;903;927;903;148	ENSP00000359035:V903M;ENSP00000322287:V903M;ENSP00000424307:V927M;ENSP00000353332:V903M;ENSP00000359020:V148M	ENSP00000353332:V903M	V	+	1	0	AL353715.1	61794656	1.000000	0.71417	0.939000	0.37840	0.343000	0.28985	3.355000	0.52262	2.271000	0.75665	0.442000	0.29010	GTG		0.642	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	137	0	0	0	1	0	3	137					A	62324212	G	A	62324212	3	1	21	1	0	0	0	0	1	0	0	0	13720	1145	40	1	2817	1	RTEL1	20	62324212	Missense_Mutation	SNP	G	TCGA-BJ-A28X-01A-11D-A22D-08		62324212	701308	28	474											
NIPAL3	57185	broad.mit.edu	37	1	24785395	24785395	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:24785395C>T	ENST00000374399.4	+	9	1159	c.791C>T	c.(790-792)tCa>tTa	p.S264L	NIPAL3_ENST00000339255.2_Missense_Mutation_p.S264L|NIPAL3_ENST00000003912.3_Missense_Mutation_p.S182L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	264						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGCCTCACAGATGTAC	0.468																																						uc001bjh.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(790-792)tCa>tTa		Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.							216	177	190					1																	24785395		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24785395C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.791C>T	1.37:g.24785395C>T	ENSP00000363520:p.Ser264Leu		Somatic				NIPAL3_uc009vrc.3_Missense_Mutation_p.S182L|NIPAL3_uc001bji.3_Silent_p.L72L	p.S264L	NM_020448	NP_065181	WXS	Illumina GAIIx	Phase_I	Q6P499	NPAL3_HUMAN			8	1198	+			264					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.791C>T	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.438032|1.438032	0.25900|0.25900	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.86694	.|-2.16;-2.16;-2.16	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.179348	.|0.52532	.|N	.|0.000080	T|T	0.73760|0.73760	0.3628|0.3628	N|N	0.05050|0.05050	-0.12|-0.12	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34103	.|0.193;0.437	.|B;B	.|0.34452	.|0.089;0.183	T|T	0.73817|0.73817	-0.3863|-0.3863	5|10	.|0.02654	.|T	.|1	-15.9078|-15.9078	19.1524|19.1524	0.93495|0.93495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264;264	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	Y|L	76|264;182;264	.|ENSP00000363520:S264L;ENSP00000003912:S182L;ENSP00000343549:S264L	.|ENSP00000003912:S182L	H|S	+|+	1|2	0|0	NIPAL3|NIPAL3	24657982|24657982	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.434000|3.434000	0.52841|0.52841	2.775000|2.775000	0.95449|0.95449	0.563000|0.563000	0.77884|0.77884	CAC|TCA		0.468	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		17	58	0	0	0	1	0	17	58					T	24785395	C	T	24785395	3	4	22	1	0	0	0	0	1	0	0	0	10426	838	29	2	821	2	NIPAL3	1	24785395	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		24785395	224465226	1	475											
TNFSF4	7292	broad.mit.edu	37	1	173155920	173155920	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr1:173155920T>C	ENST00000281834.3	-	3	423	c.287A>G	c.(286-288)aAc>aGc	p.N96S	TNFSF4_ENST00000367718.1_Missense_Mutation_p.N46S|TNFSF4_ENST00000488053.1_5'Flank	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	96					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCCATCACAGTTGATGATGAC	0.458																																						uc001giw.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(286-288)aAc>aGc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.							115	118	117					1																	173155920		2203	4300	6503	SO:0001583	missense	7292				T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155920T>C	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11934	protein-coding gene	gene with protein product		603594	"tax-transcriptionally activated glycoprotein 1, 34kD"	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.287A>G	1.37:g.173155920T>C	ENSP00000281834:p.Asn96Ser		Somatic				TNFSF4_uc001giv.3_Missense_Mutation_p.N46S	p.N96S	NM_003326	NP_003317	WXS	Illumina GAIIx	Phase_I	P23510	TNFL4_HUMAN			2	443	-			96					Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	c.287A>G	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	T	9.580	1.123243	0.20959	.	.	ENSG00000117586	ENST00000367718;ENST00000281834;ENST00000545292	D;D	0.94613	-3.47;-3.47	5.76	-8.73	0.00841	Tumour necrosis factor (2);Tumour necrosis factor-like (1);Tumour necrosis factor, conserved site (1);	1.693150	0.02418	N	0.082257	D	0.82365	0.5021	L	0.54323	1.7	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.73563	-0.3943	10	0.20046	T	0.44	0.119	9.1863	0.37172	0.0:0.457:0.3483:0.1948	.	96;46	P23510;Q8IV74	TNFL4_HUMAN;.	S	46;96;46	ENSP00000356691:N46S;ENSP00000281834:N96S	ENSP00000281834:N96S	N	-	2	0	TNFSF4	171422543	0.001000	0.12720	0.000000	0.03702	0.390000	0.30446	-1.701000	0.01903	-1.157000	0.02815	-0.250000	0.11733	AAC		0.458	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			21	69	0	0	0	1	0	21	69					C	173155920	T	C	173155920	3	2	22	1	0	0	0	0	1	0	0	0	16307	1725	60	3	268	3	TNFSF4	1	173155920	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08	148370525	173155920	76094701	2	476											
MAP4K4	9448	broad.mit.edu	37	2	102450904	102450904	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:102450904G>C	ENST00000347699.4	+	8	673	c.673G>C	c.(673-675)Gag>Cag	p.E225Q	MAP4K4_ENST00000425019.1_Missense_Mutation_p.E225Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E205Q|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000413150.2_Missense_Mutation_p.E225Q	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACAGCCATTGAGATGGCAGA	0.408																																						uc002tbc.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(673-675)Gag>Cag		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.							159	144	149					2																	102450904		1884	4125	6009	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102450904G>C	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.673G>C	2.37:g.102450904G>C	ENSP00000314363:p.Glu225Gln		Somatic				MAP4K4_uc002tbf.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbd.3_Missense_Mutation_p.E225Q|MAP4K4_uc010yvy.2_Missense_Mutation_p.E225Q|MAP4K4_uc002tbh.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbg.3_Missense_Mutation_p.E225Q|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.E205Q|MAP4K4_uc010fiw.1_Missense_Mutation_p.E67Q|MAP4K4_uc002tbj.1_Missense_Mutation_p.E121Q	p.E225Q	NM_145687	NP_001229488	WXS	Illumina GAIIx	Phase_I	O95819	M4K4_HUMAN			7	1051	+			225			Protein kinase.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.673G>C	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479370	0.84747	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T	0.70045	1.25;1.25;1.25;1.25;1.25;1.25;-0.45	6.03	6.03	0.97812	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	0.85504	0.5712	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.85130	0.983;0.997;0.993;0.983;0.971;0.996;0.996;0.943;0.993;0.993	D	0.86528	0.1820	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	205;225;225;205;225;225;225;225;225;225	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	Q	225;225;225;225;225;187;205	ENSP00000392830:E225Q;ENSP00000313644:E225Q;ENSP00000281111:E225Q;ENSP00000389752:E225Q;ENSP00000314363:E225Q;ENSP00000409720:E187Q;ENSP00000343658:E205Q	ENSP00000313644:E225Q	E	+	1	0	MAP4K4	101817336	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.813000	0.99286	2.854000	0.98071	0.655000	0.94253	GAG		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	21	0	0	0	1	0	4	21					C	102450904	G	C	102450904	3	2	22	1	0	0	0	0	1	0	0	0	9262	1291	45	4	703	4	MAP4K4	2	102450904	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		102450904	140748469	3	477											
ANKRD44	91526	broad.mit.edu	37	2	197975514	197975514	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr2:197975514G>A	ENST00000328737.2	-	9	962	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R296W|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R249W|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R296W|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R313W|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R321W|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R321W			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	321										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTGTGACCGTGTGAACCTT	0.428																																						uc021vuj.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(961-963)Cgg>Tgg		Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.							223	210	214					2																	197975514		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197975514G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.886C>T	2.37:g.197975514G>A	ENSP00000331516:p.Arg296Trp		Somatic				ANKRD44_uc002utz.4_Missense_Mutation_p.R10W|ANKRD44_uc021vuk.1_Missense_Mutation_p.R296W|ANKRD44_uc002uub.3_Missense_Mutation_p.R321W|ANKRD44_uc010zgw.2_Missense_Mutation_p.R249W|ANKRD44_uc002uuc.3_Missense_Mutation_p.R321W	p.R321W	NM_001195144	NP_001182073	WXS	Illumina GAIIx	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		8	1154	-			321					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.961C>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.247132	0.80024	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T;T	0.64260	2.4;2.41;-0.09;-0.09;-0.09;-0.09;2.4;-0.09;-0.09	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.73225	0.3560	L	0.43152	1.355	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.75391	-0.3334	10	0.72032	D	0.01	.	16.31	0.82865	0.0:0.0:1.0:0.0	.	249;321;321	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	W	118;313;296;296;296;19;321;249;321	ENSP00000403415:R118W;ENSP00000282272:R313W;ENSP00000331516:R296W;ENSP00000402420:R296W;ENSP00000338794:R296W;ENSP00000416319:R19W;ENSP00000387141:R321W;ENSP00000437825:R249W;ENSP00000387233:R321W	ENSP00000282272:R313W	R	-	1	2	ANKRD44	197683759	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.155000	0.58131	2.600000	0.87896	0.563000	0.77884	CGG		0.428	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		5	210	0	0	0	1	0	5	210					A	197975514	G	A	197975514	3	1	22	1	0	0	0	0	1	0	0	0	672	1144	40	1	1945	1	ANKRD44	2	197975514	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	95524610	197975514	45223859	4	478											
KIF15	56992	broad.mit.edu	37	3	44839336	44839336	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:44839336G>A	ENST00000326047.4	+	10	1135	c.986G>A	c.(985-987)gGa>gAa	p.G329E	KIF15_ENST00000425755.1_5'Flank	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	329	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GATTCCCTTGGAGGTAATGCC	0.403																																						uc003cnx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(985-987)gGa>gAa		Homo sapiens kinesin family member 15 (KIF15), mRNA.							100	97	98					3																	44839336		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44839336G>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.986G>A	3.37:g.44839336G>A	ENSP00000324020:p.Gly329Glu		Somatic				KIF15_uc010hiq.3_Missense_Mutation_p.G232E|KIF15_uc003cny.1_5'Flank	p.G329E	NM_020242	NP_064627	WXS	Illumina GAIIx	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	9	1135	+			329					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.986G>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788122	0.90367	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031	T;T	0.76448	-1.02;-1.02	5.37	5.37	0.77165	Kinesin, motor domain (4);	0.000000	0.50627	D	0.000107	D	0.91253	0.7243	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93106	0.6512	10	0.87932	D	0	.	19.1155	0.93336	0.0:0.0:1.0:0.0	.	329	Q9NS87	KIF15_HUMAN	E	329;101;328	ENSP00000324020:G329E;ENSP00000425499:G101E	ENSP00000324020:G329E	G	+	2	0	KIF15	44814340	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.476000	0.97823	2.519000	0.84933	0.462000	0.41574	GGA		0.403	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			27	74	0	0	0	1	0	27	74					A	44839336	G	A	44839336	3	1	22	1	0	0	0	0	1	0	0	0	8277	1174	41	2	1024	2	KIF15	3	44839336	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		44839336	153183094	5	479											
BFSP2	8419	broad.mit.edu	37	3	133185795	133185795	+	Missense_Mutation	SNP	C	C	T	rs200573601		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:133185795C>T	ENST00000302334.2	+	5	1104	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	339	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGAATCCTTACGTGCCCTGGT	0.517																																						uc003epn.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1015-1017)Cgt>Tgt		Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.							65	63	64					3																	133185795		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133185795C>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"Intermediate filaments type VI, eye lens intermediate filaments"	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.1015C>T	3.37:g.133185795C>T	ENSP00000304987:p.Arg339Cys		Somatic					p.R339C	NM_003571	NP_003562	WXS	Illumina GAIIx	Phase_I	Q13515	BFSP2_HUMAN			4	1153	+			339			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.1015C>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010621	0.75046	.	.	ENSG00000170819	ENST00000302334	D	0.89875	-2.58	5.92	2.87	0.33458	Filament (1);	0.204715	0.33534	N	0.004801	D	0.94381	0.8193	M	0.88310	2.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.67382	0.951	D	0.94571	0.7771	10	0.56958	D	0.05	-18.2126	13.8519	0.63501	0.6735:0.3265:0.0:0.0	.	339	Q13515	BFSP2_HUMAN	C	339	ENSP00000304987:R339C	ENSP00000304987:R339C	R	+	1	0	BFSP2	134668485	0.998000	0.40836	0.703000	0.30354	0.983000	0.72400	2.255000	0.43222	0.826000	0.34661	0.561000	0.74099	CGT		0.517	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			16	54	0	0	0	1	0	16	54					T	133185795	C	T	133185795	3	4	22	1	0	0	0	0	1	0	0	0	1416	536	19	1	1033	1	BFSP2	3	133185795	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	88346459	133185795	64836635	6	480											
B3GNT5	84002	broad.mit.edu	37	3	182988119	182988119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr3:182988119G>A	ENST00000326505.3	+	2	1063	c.533G>A	c.(532-534)tGg>tAg	p.W178*	MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W178*|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W178*	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	178					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGTTCAGTTGGGCAAATACC	0.343																																						uc003flk.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(532-534)tGg>tAg		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.							82	81	81					3																	182988119		2203	4300	6503	SO:0001587	stop_gained	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988119G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.533G>A	3.37:g.182988119G>A	ENSP00000316173:p.Trp178*		Somatic				MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.3_Nonsense_Mutation_p.W178*|B3GNT5_uc003flm.3_Nonsense_Mutation_p.W178*|B3GNT5_uc021xic.1_Nonsense_Mutation_p.W178*	p.W178*	NM_032047	NP_114436	WXS	Illumina GAIIx	Phase_I	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		1	1063	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		178					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Nonsense_Mutation	SNP	ENST00000326505.3	37	c.533G>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	43	10.122265	0.99342	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	.	.	.	X	178	.	ENSP00000316173:W178X	W	+	2	0	B3GNT5	184470813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.736000	0.93811	0.557000	0.71058	TGG		0.343	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		32	95	0	0	0	1	0	32	95					A	182988119	G	A	182988119	4	1	22	1	0	0	0	0	0	1	0	0	1260	1357	47	2	535	2	B3GNT5	3	182988119	Nonsense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	49802324	182988119	15034311	7	481											
TRIML1	339976	broad.mit.edu	37	4	189060832	189060832	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr4:189060832C>T	ENST00000332517.3	+	1	260	c.120C>T	c.(118-120)ctC>ctT	p.L40L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	40					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)		TGGTGTGTCTCCTCAGGAGCT	0.547																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			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.(118-120)ctC>ctT		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							181	180	180					4																	189060832		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060832C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.120C>T	4.37:g.189060832C>T			Somatic					p.L40L	NM_178556	NP_848651	WXS	Illumina GAIIx	Phase_I	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)	0	235	+		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)	40					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.120C>T	CCDS3851.1																																																																																				0.547	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		67	234	0	0	0	1	0	67	234					T	189060832	C	T	189060832	2	4	22	1	0	0	0	0	0	0	0	1	16547	842	30	2		2	TRIML1	4	189060832	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		189060832	2093444	8	482											
ARSK	153642	broad.mit.edu	37	5	94918766	94918766	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr5:94918766G>A	ENST00000380009.4	+	4	768	c.563G>A	c.(562-564)aGa>aAa	p.R188K		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	188					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(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AACTGGTTAAGAAAGGAAGCA	0.388																																						uc003kld.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(562-564)aGa>aAa		Homo sapiens arylsulfatase family, member K (ARSK), mRNA.							132	128	129					5																	94918766		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94918766G>A		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.563G>A	5.37:g.94918766G>A	ENSP00000369346:p.Arg188Lys		Somatic				ARSK_uc010jbg.3_Missense_Mutation_p.R29K|ARSK_uc011cum.2_Non-coding_Transcript	p.R188K	NM_198150	NP_937793	WXS	Illumina GAIIx	Phase_I	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	3	721	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	188					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.563G>A	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107340	0.37145	.	.	ENSG00000164291	ENST00000380009	D	0.99885	-7.51	6.02	3.31	0.37934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.273372	0.40818	N	0.001014	D	0.99086	0.9686	L	0.28458	0.855	0.80722	D	1	B	0.19200	0.034	B	0.22152	0.038	D	0.99986	1.3294	10	0.19590	T	0.45	-17.4236	9.0933	0.36623	0.359:0.0:0.641:0.0	.	188	Q6UWY0	ARSK_HUMAN	K	188	ENSP00000369346:R188K	ENSP00000369346:R188K	R	+	2	0	ARSK	94944522	1.000000	0.71417	0.998000	0.56505	0.619000	0.37552	2.021000	0.41020	0.447000	0.26695	-0.157000	0.13467	AGA		0.388	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		24	64	0	0	0	1	0	24	64					A	94918766	G	A	94918766	3	1	22	1	0	0	0	0	1	0	0	0	996	942	33	2	577	2	ARSK	5	94918766	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		94918766	85996494	9	483											
C6orf27	80737	broad.mit.edu	37	6	31741165	31741165	+	Silent	SNP	C	C	T	rs201850397	byFrequency	TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:31741165C>T	ENST00000375688.4	-	6	971	c.771G>A	c.(769-771)ccG>ccA	p.P257P	VWA7_ENST00000447450.1_Silent_p.P257P|VWA7_ENST00000375686.3_Silent_p.P257P|VWA7_ENST00000467576.1_Intron			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	257						extracellular region (GO:0005576)											TGCCTCCCCTCGGTGGCTGGG	0.602													C|||	2	0.000399361	0.0015	0	5008	,	,		18508	0		0	False		,,,				2504	0					uc011dog.2																			0											c.(769-771)ccG>ccA		Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.							57	56	56					6																	31741165		2203	4299	6502	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31741165C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.771G>A	6.37:g.31741165C>T			Somatic				VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Intron	p.P257P	NM_025258	NP_079534	WXS	Illumina GAIIx	Phase_I	Q9Y334	G7C_HUMAN			5	1009	-			257					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.771G>A	CCDS4721.2																																																																																				0.602	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		5	20	0	0	0	1	0	5	20					T	31741165	C	T	31741165	2	4	22	1	0	0	0	0	0	0	0	1	2362	871	31	1		1	C6orf27	6	31741165	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		31741165	139373902	10	484											
C6orf150	115004	broad.mit.edu	37	6	74161389	74161389	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:74161389C>T	ENST00000370315.3	-	1	610	c.516G>A	c.(514-516)ttG>ttA	p.L172L	MB21D1_ENST00000370318.1_Silent_p.L172L	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	172					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						GGCTGAGCTTCAACTTCTCCA	0.667																																						uc003pgx.1																			0				central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(514-516)ttG>ttA		Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.							26	27	26					6																	74161389		2203	4299	6502	SO:0001819	synonymous_variant	115004							g.chr6:74161389C>T	BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"chromosome 6 open reading frame 150"	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.516G>A	6.37:g.74161389C>T			Somatic					p.L172L	NM_138441	NP_612450	WXS	Illumina GAIIx	Phase_I	Q8N884	M21D1_HUMAN			0	655	-			172					L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	ENST00000370315.3	37	c.516G>A	CCDS4978.1																																																																																				0.667	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		5	26	0	0	0	1	0	5	26					T	74161389	C	T	74161389	2	4	22	1	0	0	0	0	0	0	0	1	2337	825	29	2		2	C6orf150	6	74161389	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	42420224	74161389	96953678	11	485											
GOPC	57120	broad.mit.edu	37	6	117900212	117900212	+	Silent	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr6:117900212G>A	ENST00000368498.2	-	2	376	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	GOPC_ENST00000052569.6_Silent_p.L101L|GOPC_ENST00000535237.1_Silent_p.L101L	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	101					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCAGATTTCAGATCCACCAAC	0.348			O	ROS1	glioblastoma																																	uc003pxu.3				Dom	yes		6	6q21	57120	T	golgi associated PDZ and coiled-coil motif containing			O	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	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.(301-303)Ctg>Ttg		Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.							85	80	82					6																	117900212		2203	4299	6502	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117900212G>A	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.301C>T	6.37:g.117900212G>A			Somatic				ROS1_uc003pxv.3_Silent_p.L101L|ROS1_uc010keg.2_5'Flank	p.L101L	NM_020399	NP_065132	WXS	Illumina GAIIx	Phase_I	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	1	555	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	0			Fibronectin type-III 1.		A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	c.301C>T	CCDS5117.1																																																																																				0.348	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		13	41	0	0	0	1	0	13	41					A	117900212	G	A	117900212	2	1	22	1	0	0	0	0	0	0	0	1	6573	933	33	2		2	GOPC	6	117900212	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	43738823	117900212	53214855	12	486											
FZD1	8321	broad.mit.edu	37	7	90894813	90894813	+	Silent	SNP	C	C	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr7:90894813C>A	ENST00000287934.2	+	1	1031	c.618C>A	c.(616-618)ggC>ggA	p.G206G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	206	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ACAAGTTCGGCTTCCAGTGGC	0.701																																						uc003ula.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(616-618)ggC>ggA		Homo sapiens frizzled family receptor 1 (FZD1), mRNA.							46	51	49					7																	90894813		2203	4299	6502	SO:0001819	synonymous_variant	8321				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding	g.chr7:90894813C>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.618C>A	7.37:g.90894813C>A			Somatic					p.G206G	NM_003505	NP_003496	WXS	Illumina GAIIx	Phase_I	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		0	1031	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		206			FZ.		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.618C>A	CCDS5620.1																																																																																				0.701	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		16	56	0	0	0	1	0	16	56					A	90894813	C	A	90894813	2	1	22	1	0	0	0	0	0	0	0	1	6128	784	28	4		4	FZD1	7	90894813	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		90894813	68243850	13	487											
STAR	6770	broad.mit.edu	37	8	38005733	38005733	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr8:38005733C>T	ENST00000276449.4	-	3	737	c.291G>A	c.(289-291)aaG>aaA	p.K97K	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	97	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GACTCTCCTTCTTCCAGCCCT	0.557																																						uc003xkv.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(289-291)aaG>aaA		Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.							106	70	82					8																	38005733		2203	4300	6503	SO:0001819	synonymous_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005733C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.291G>A	8.37:g.38005733C>T			Somatic					p.K97K	NM_000349	NP_000340	WXS	Illumina GAIIx	Phase_I	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	555	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	97			START.		Q16396	Silent	SNP	ENST00000276449.4	37	c.291G>A	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900516	0.17686	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.43	4.55	0.56014	.	.	.	.	.	T	0.62636	0.2444	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61098	-0.7131	4	.	.	.	-35.5742	11.1751	0.48595	0.0:0.8527:0.0:0.1473	.	.	.	.	K	76	.	.	R	-	2	0	STAR	38124890	0.958000	0.32768	1.000000	0.80357	0.878000	0.50629	0.472000	0.22116	1.427000	0.47276	0.491000	0.48974	AGA		0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		9	33	0	0	0	1	0	9	33					T	38005733	C	T	38005733	2	4	22	1	0	0	0	0	0	0	0	1	15253	912	32	2		2	STAR	8	38005733	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		38005733	108358289	14	488											
CEP110	11064	broad.mit.edu	37	9	123927267	123927267	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr9:123927267T>A	ENST00000373855.1	+	35	5730	c.5470T>A	c.(5470-5472)Tta>Ata	p.L1824I	CNTRL_ENST00000238341.5_Missense_Mutation_p.L1824I|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.L1272I			Q7Z7A1	CNTRL_HUMAN	centriolin	1824					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCAATCAAACTTAGAAAAGTT	0.398																																						uc004bkx.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(5470-5472)Tta>Ata		Homo sapiens centriolin (CNTRL), mRNA.							84	77	80					9																	123927267		2203	4300	6503	SO:0001583	missense	11064				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding	g.chr9:123927267T>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5470T>A	9.37:g.123927267T>A	ENSP00000362962:p.Leu1824Ile		Somatic				CNTRL_uc004blb.1_Missense_Mutation_p.L493I|CNTRL_uc010mvp.1_5'UTR	p.L1824I	NM_007018	NP_008949	WXS	Illumina GAIIx	Phase_I	Q7Z7A1	CNTRL_HUMAN			32	5501	+			1824					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5470T>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873184	0.72180	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.43294	1.22;1.22;0.95	6.04	2.29	0.28610	.	.	.	.	.	T	0.35537	0.0935	L	0.59436	1.845	0.23616	N	0.997285	P	0.49185	0.92	B	0.44108	0.441	T	0.24333	-1.0163	9	0.37606	T	0.19	.	1.6738	0.02817	0.1208:0.1602:0.3088:0.4103	.	1824	Q7Z7A1	CNTRL_HUMAN	I	1824;1824;1824;580;6;1272;506	ENSP00000362962:L1824I;ENSP00000238341:L1824I;ENSP00000362956:L1272I	ENSP00000238341:L1824I	L	+	1	2	CNTRL	122967088	0.902000	0.30710	1.000000	0.80357	0.993000	0.82548	0.023000	0.13533	0.539000	0.28788	0.460000	0.39030	TTA		0.398	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		4	76	0	0	0	1	0	4	76					A	123927267	T	A	123927267	3	1	22	1	0	0	0	0	1	0	0	0	3245	1606	56	5	5600	5	CEP110	9	123927267	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08		123927267	17286164	15	489											
ITGB1	3688	broad.mit.edu	37	10	33200886	33200886	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:33200886C>T	ENST00000396033.2	-	12	1771	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ITGB1_ENST00000374956.4_Missense_Mutation_p.E546K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E546K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E546K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	546	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GAATAAATTTCATTTGTATTA	0.403																																						uc001iwr.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1636-1638)Gaa>Aaa		Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1D, mRNA.							141	132	135					10																	33200886		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200886C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1636G>A	10.37:g.33200886C>T	ENSP00000379350:p.Glu546Lys		Somatic				ITGB1_uc001iws.4_Missense_Mutation_p.E546K|ITGB1_uc001iwt.4_Missense_Mutation_p.E546K	p.E546K	NM_033668	NP_391988	WXS	Illumina GAIIx	Phase_I	P05556	ITB1_HUMAN			10	1636	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	546			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1636G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737797	0.69304	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.07	6.07	0.98685	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.991;1.0	D;D;D;P;D	0.91635	0.999;0.997;0.999;0.785;0.999	D	0.85695	0.1309	10	0.16896	T	0.51	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	546;546;546;546;546	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	K	546	ENSP00000379350:E546K;ENSP00000388694:E546K;ENSP00000303351:E546K;ENSP00000364094:E546K	ENSP00000303351:E546K	E	-	1	0	ITGB1	33240892	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.743000	0.85020	2.885000	0.99019	0.655000	0.94253	GAA		0.403	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		21	106	0	0	0	1	0	21	106					T	33200886	C	T	33200886	3	4	22	1	0	0	0	0	1	0	0	0	7890	835	29	2	1018	2	ITGB1	10	33200886	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08		33200886	102333861	16	490											
CSGALNACT2	55454	broad.mit.edu	37	10	43651086	43651086	+	Silent	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr10:43651086C>T	ENST00000374466.3	+	2	824	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CSGALNACT2_ENST00000374464.1_Silent_p.L163L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	163					carbohydrate metabolic process (GO:0005975)|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)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAATGGGTCTCACTCGCCATC	0.413																																						uc001jan.3																			0		p.G162C(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(487-489)ctC>ctT		Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.							95	95	95					10																	43651086		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43651086C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.489C>T	10.37:g.43651086C>T			Somatic				CSGALNACT2_uc001jam.1_Silent_p.L163L	p.L163L	NM_018590	NP_061060	WXS	Illumina GAIIx	Phase_I	Q8N6G5	CGAT2_HUMAN			1	824	+			163					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.489C>T	CCDS7201.1																																																																																				0.413	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		14	65	0	0	0	1	0	14	65					T	43651086	C	T	43651086	2	4	22	1	0	0	0	0	0	0	0	1	3939	813	29	2		2	CSGALNACT2	10	43651086	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	10450200	43651086	91883661	17	491											
OR4D9	390199	broad.mit.edu	37	11	59283197	59283197	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:59283197T>A	ENST00000329328.3	+	1	812	c.812T>A	c.(811-813)aTc>aAc	p.I271N		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GACACTGCCATCTCTGTCACC	0.532																																						uc010rkv.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(811-813)aTc>aAc		Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.							203	187	193					11																	59283197		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283197T>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.812T>A	11.37:g.59283197T>A	ENSP00000328563:p.Ile271Asn		Somatic					p.I271N	NM_001004711	NP_001004711	WXS	Illumina GAIIx	Phase_I	Q8NGE8	OR4D9_HUMAN			0	812	+			271					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.812T>A	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454887	0.43634	.	.	ENSG00000172742	ENST00000329328	T	0.42513	0.97	4.26	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.352642	0.20367	U	0.093737	T	0.62466	0.2430	M	0.84433	2.695	0.22412	N	0.999127	D	0.56521	0.976	P	0.62089	0.898	T	0.56080	-0.8038	10	0.87932	D	0	-10.5019	10.0764	0.42362	0.0:0.0:0.1694:0.8306	.	271	Q8NGE8	OR4D9_HUMAN	N	271	ENSP00000328563:I271N	ENSP00000328563:I271N	I	+	2	0	OR4D9	59039773	0.000000	0.05858	0.530000	0.27963	0.770000	0.43624	0.373000	0.20484	0.576000	0.29452	0.460000	0.39030	ATC		0.532	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		45	207	0	0	0	1	0	45	207					A	59283197	T	A	59283197	3	1	22	1	0	0	0	0	1	0	0	0	11059	1435	50	5	814	5	OR4D9	11	59283197	Missense_Mutation	SNP	T	TCGA-BJ-A28Z-01A-11D-A16O-08		59283197	75723319	18	492											
EHD1	10938	broad.mit.edu	37	11	64622296	64622296	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr11:64622296G>C	ENST00000320631.3	-	5	1368	c.1114C>G	c.(1114-1116)Cag>Gag	p.Q372E	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.Q372E	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	372					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						TTCAGCGCCTGGAACTTGCTG	0.642																																						uc010rnq.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1156-1158)Cag>Gag		Homo sapiens EH-domain containing 1 (EHD1), mRNA.							182	177	179					11																	64622296		2201	4297	6498	SO:0001583	missense	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|GTP binding|GTPase activity|calcium ion binding|protein binding	g.chr11:64622296G>C	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1114C>G	11.37:g.64622296G>C	ENSP00000320516:p.Gln372Glu		Somatic				EHD1_uc021qkz.1_Missense_Mutation_p.Q55E|EHD1_uc001obu.1_Missense_Mutation_p.Q372E|EHD1_uc001obv.1_Missense_Mutation_p.Q372E	p.Q386E	NM_006795	NP_006786	WXS	Illumina GAIIx	Phase_I	Q9H4M9	EHD1_HUMAN			5	1203	-			372					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1156C>G	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	6.616	0.482159	0.12581	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510	T;T;T	0.41400	2.32;2.32;1.0	4.32	4.32	0.51571	.	0.251404	0.40064	N	0.001199	T	0.26882	0.0658	N	0.25825	0.765	0.42629	D	0.993376	B;B	0.17268	0.021;0.021	B;B	0.17098	0.017;0.017	T	0.08411	-1.0723	10	0.02654	T	1	.	14.3322	0.66564	0.0:0.0:1.0:0.0	.	372;372	B2R5U3;Q9H4M9	.;EHD1_HUMAN	E	372;372;348;386;236	ENSP00000320516:Q372E;ENSP00000352354:Q372E;ENSP00000391429:Q236E	ENSP00000320516:Q372E	Q	-	1	0	EHD1	64378872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.230000	0.58632	2.263000	0.75096	0.561000	0.74099	CAG		0.642	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		57	209	0	0	0	1	0	57	209					C	64622296	G	C	64622296	3	2	22	1	0	0	0	0	1	0	0	0	4977	1357	47	4	494	4	EHD1	11	64622296	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	5339099	64622296	70384220	19	493											
SMARCC2	6601	broad.mit.edu	37	12	56571852	56571852	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:56571852G>C	ENST00000267064.4	-	15	1422	c.1336C>G	c.(1336-1338)Ctc>Gtc	p.L446V	SMARCC2_ENST00000550164.1_Missense_Mutation_p.L446V|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.L446V|SMARCC2_ENST00000394023.3_Missense_Mutation_p.L446V	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	446	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACTCGGGGAGAGCCCTCCGC	0.512																																						uc001skb.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1336-1338)Ctc>Gtc		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.							130	121	124					12																	56571852		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity	g.chr12:56571852G>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1336C>G	12.37:g.56571852G>C	ENSP00000267064:p.Leu446Val		Somatic				SMARCC2_uc001skd.3_Missense_Mutation_p.L446V|SMARCC2_uc001ska.3_Missense_Mutation_p.L446V|SMARCC2_uc001skc.3_Missense_Mutation_p.L446V|SMARCC2_uc010sqf.2_Missense_Mutation_p.L335V	p.L446V	NM_003075	NP_003066	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		14	1442	-			446			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1336C>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194055	0.78902	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.59502	0.26;0.27;0.28	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.075949	0.50627	D	0.000111	T	0.71986	0.3405	M	0.75884	2.315	0.48762	D	0.9997	D;D;D;D;D	0.69078	0.997;0.974;0.979;0.997;0.974	D;D;D;D;D	0.76071	0.987;0.953;0.973;0.987;0.953	T	0.73668	-0.3910	10	0.62326	D	0.03	-13.438	9.8703	0.41170	0.0974:0.0:0.9026:0.0	.	335;446;451;446;446	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	V	446	ENSP00000449396:L446V;ENSP00000302919:L446V;ENSP00000267064:L446V	ENSP00000267064:L446V	L	-	1	0	SMARCC2	54858119	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.298000	0.65710	2.582000	0.87167	0.655000	0.94253	CTC		0.512	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	30	0	0	0	1	0	7	30					C	56571852	G	C	56571852	3	2	22	1	0	0	0	0	1	0	0	0	14776	942	33	4	2461	4	SMARCC2	12	56571852	Missense_Mutation	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		56571852	77280043	20	494											
TMTC2	160335	broad.mit.edu	37	12	83289743	83289743	+	Silent	SNP	C	C	T	rs143764076		TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr12:83289743C>T	ENST00000321196.3	+	3	1508	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TMTC2_ENST00000548305.1_Silent_p.L267L|TMTC2_ENST00000549919.1_Silent_p.L261L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	267					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACAGCCTCCTCACCCGCACTC	0.532																																						uc001szt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(799-801)ctC>ctT		Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.							140	130	133					12																	83289743		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289743C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.801C>T	12.37:g.83289743C>T			Somatic				TMTC2_uc001szr.1_Silent_p.L267L|TMTC2_uc001szs.1_Silent_p.L267L|TMTC2_uc010suk.2_Silent_p.L22L	p.L267L	NM_152588	NP_689801	WXS	Illumina GAIIx	Phase_I	Q8N394	TMTC2_HUMAN			2	1233	+			267					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.801C>T	CCDS9025.1																																																																																				0.532	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		35	160	0	0	0	1	0	35	160					T	83289743	C	T	83289743	2	4	22	1	0	0	0	0	0	0	0	1	16258	813	29	2		2	TMTC2	12	83289743	Silent	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	26717891	83289743	50562152	21	495											
PAN3	255967	broad.mit.edu	37	13	28851441	28851441	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:28851441A>G	ENST00000380958.3	+	15	2269	c.2117A>G	c.(2116-2118)cAg>cGg	p.Q706R	PAN3_ENST00000282391.5_Missense_Mutation_p.Q394R|PAN3_ENST00000399613.1_Missense_Mutation_p.Q506R	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCAGGAATTCAGCGAGAGAAT	0.338																																						uc001urz.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2116-2118)cAg>cGg		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							109	113	112					13																	28851441		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28851441A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2117A>G	13.37:g.28851441A>G	ENSP00000370345:p.Gln706Arg		Somatic				PAN3_uc001ury.3_Missense_Mutation_p.Q394R|PAN3_uc001urx.3_Missense_Mutation_p.Q506R	p.Q706R	NM_175854	NP_787050	WXS	Illumina GAIIx	Phase_I	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	14	2269	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	706			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.2117A>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289647	0.80914	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.40225	1.04;1.04;1.04	5.81	5.81	0.92471	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	L	0.56124	1.755	0.80722	D	1	D;D;D	0.71674	0.997;0.989;0.998	D;D;D	0.80764	0.99;0.979;0.994	T	0.54091	-0.8345	10	0.27785	T	0.31	-7.7026	16.1699	0.81801	1.0:0.0:0.0:0.0	.	706;394;652	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	R	706;506;394	ENSP00000370345:Q706R;ENSP00000382522:Q506R;ENSP00000282391:Q394R	ENSP00000282391:Q394R	Q	+	2	0	PAN3	27749441	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.217000	0.71921	0.533000	0.62120	CAG		0.338	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		3	109	0	0	0	1	0	3	109					G	28851441	A	G	28851441	3	3	22	1	0	0	0	0	1	0	0	0	11415	188	7	3	2175	3	PAN3	13	28851441	Missense_Mutation	SNP	A	TCGA-BJ-A28Z-01A-11D-A16O-08		28851441	86318437	22	496											
GPC5	2262	broad.mit.edu	37	13	92345516	92345516	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr13:92345516C>T	ENST00000377067.3	+	3	773	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	134					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)				AGGAACATGGCCTTGGAGGCT	0.403																																						uc010tif.2																			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.(400-402)gCc>gTc		Homo sapiens glypican 5 (GPC5), mRNA.							119	123	121					13																	92345516		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345516C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.401C>T	13.37:g.92345516C>T	ENSP00000366267:p.Ala134Val		Somatic					p.A134V	NM_004466	NP_004457	WXS	Illumina GAIIx	Phase_I	P78333	GPC5_HUMAN			2	767	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	134					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.401C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360843	0.82353	.	.	ENSG00000179399	ENST00000377067	T	0.47177	0.85	5.07	5.07	0.68467	.	0.115012	0.64402	D	0.000015	T	0.67040	0.2851	M	0.79258	2.445	0.43018	D	0.994563	P	0.46952	0.887	P	0.57548	0.823	T	0.72200	-0.4362	10	0.72032	D	0.01	.	17.4374	0.87555	0.0:1.0:0.0:0.0	.	134	P78333	GPC5_HUMAN	V	134	ENSP00000366267:A134V	ENSP00000366267:A134V	A	+	2	0	GPC5	91143517	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	5.920000	0.70017	2.351000	0.79841	0.467000	0.42956	GCC		0.403	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		20	84	0	0	0	1	0	20	84					T	92345516	C	T	92345516	3	4	22	1	0	0	0	0	1	0	0	0	6601	739	26	2	411	2	GPC5	13	92345516	Missense_Mutation	SNP	C	TCGA-BJ-A28Z-01A-11D-A16O-08	63494075	92345516	22824362	23	497											
ABCA3	21	broad.mit.edu	37	16	2358593	2358593	+	Silent	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:2358593G>A	ENST00000301732.5	-	11	1843	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	381					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)	TGAAGAAGTAGAGGAAGCCTC	0.602																																						uc002cpy.1																			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.(1141-1143)ctC>ctT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.							106	90	96					16																	2358593		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.chr16:2358593G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1143C>T	16.37:g.2358593G>A			Somatic				ABCA3_uc010bsk.1_Intron|ABCA3_uc010bsl.1_Silent_p.L381L	p.L381L	NM_001089	NP_001080	WXS	Illumina GAIIx	Phase_I	Q99758	ABCA3_HUMAN			10	1855	-		Ovarian(90;0.17)	381					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.1143C>T	CCDS10466.1																																																																																				0.602	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		17	67	0	0	0	1	0	17	67					A	2358593	G	A	2358593	2	1	22	1	0	0	0	0	0	0	0	1	33	929	33	2		2	ABCA3	16	2358593	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		2358593	87996160	24	498											
NUBP1	4682	broad.mit.edu	37	16	10855244	10855244	+	Silent	SNP	G	G	C			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr16:10855244G>C	ENST00000283027.5	+	8	649	c.630G>C	c.(628-630)cgG>cgC	p.R210R	TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.R199R	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGGATGTCCGGAAAGAAATCA	0.537																																						uc002daa.1																			0				large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						c.(628-630)cgG>cgC		Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.							108	94	99					16																	10855244		2197	4300	6497	SO:0001819	synonymous_variant	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10855244G>C	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.630G>C	16.37:g.10855244G>C			Somatic				FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|NUBP1_uc010bum.1_Silent_p.R75R|NUBP1_uc002dab.1_Silent_p.R199R	p.R210R	NM_002484	NP_002475	WXS	Illumina GAIIx	Phase_I	P53384	NUBP1_HUMAN			7	653	+			210						Silent	SNP	ENST00000283027.5	37	c.630G>C	CCDS10543.1																																																																																				0.537	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		19	47	0	0	0	1	0	19	47					C	10855244	G	C	10855244	2	2	22	1	0	0	0	0	0	0	0	1	10715	1161	41	4		4	NUBP1	16	10855244	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08	8496651	10855244	79499509	25	499											
MYOCD	93649	broad.mit.edu	37	17	12656261	12656261	+	Silent	SNP	G	G	A			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr17:12656261G>A	ENST00000343344.4	+	10	1656	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.Q552Q|AC005358.1_ENST00000609971.1_Silent_p.Q456Q			Q8IZQ8	MYCD_HUMAN	myocardin	552					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCAGAAGCAGAAAAGGAATA	0.522																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1654-1656)caG>caA		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.							37	39	38					17																	12656261		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	g.chr17:12656261G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1656G>A	17.37:g.12656261G>A			Somatic				MYOCD_uc002gnn.2_Silent_p.Q552Q|MYOCD_uc002gnp.1_Silent_p.Q456Q|MYOCD_uc002gnq.2_Silent_p.Q271Q	p.Q552Q	NM_001146312	NP_001139784	WXS	Illumina GAIIx	Phase_I	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	9	1955	+			552					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1656G>A	CCDS11163.1																																																																																				0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	51	0	0	0	1	0	7	51					A	12656261	G	A	12656261	2	1	22	1	0	0	0	0	0	0	0	1	10087	933	33	2		2	MYOCD	17	12656261	Silent	SNP	G	TCGA-BJ-A28Z-01A-11D-A16O-08		12656261	68538949	26	500											
ZNF236	7776	broad.mit.edu	37	18	74625777	74625777	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28Z-01A-11D-A16O-08	TCGA-BJ-A28Z-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbeaafa1-9d03-47c5-a48a-38fda6ed7840	d8cee918-54f1-448a-8a91-c78d9b645ae3	g.chr18:74625777A>G	ENST00000253159.8	+	18	3176	c.2978A>G	c.(2977-2979)aAg>aGg	p.K993R	ZNF236_ENST00000320610.9_Missense_Mutation_p.K995R	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	993					cellular response to glucose stimulus (GO:0071333)|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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACCGGGGAAAAGCCCTACAAG	0.517																																						uc002lmi.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2977-2979)aAg>aGg		Homo sapiens zinc finger protein 236 (ZNF236), mRNA.							96	103	101					18																	74625777		1979	4170	6149	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625777A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2978A>G	18.37:g.74625777A>G	ENSP00000253159:p.Lys993Arg		Somatic				ZNF236_uc002lmj.3_Non-coding_Transcript	p.K993R	NM_007345	NP_031371	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	17	3176	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	993					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2978A>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160992	0.57368	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.24908	1.83;1.83	4.98	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.059365	0.64402	D	0.000005	T	0.15176	0.0366	N	0.12443	0.215	0.51233	D	0.999918	B	0.29162	0.235	B	0.29524	0.103	T	0.07121	-1.0789	10	0.72032	D	0.01	.	10.5053	0.44830	0.9237:0.0:0.0763:0.0	.	993	Q9UL36	ZN236_HUMAN	R	993	ENSP00000253159:K993R;ENSP00000444524:K993R	ENSP00000253159:K993R	K	+	2	0	ZNF236	72754765	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.191000	0.77763	0.763000	0.33175	-0.464000	0.05259	AAG		0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			3	111	0	0	0	1	0	3	111					G	74625777	A	G	74625777	3	3	22	1	0	0	0	0	1	0	0	0	17786	72	3	3	3048	3	ZNF236	18	74625777	Missense_Mutation	SNP	A	TCGA-BJ-A28Z-01A-11D-A16O-08		74625777	3451471	27	501											
SDF4	51150	broad.mit.edu	37	1	1152973	1152973	+	Silent	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr1:1152973G>T	ENST00000360001.6	-	7	1270	c.1008C>A	c.(1006-1008)ccC>ccA	p.P336P	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	336	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.642																																						uc001adh.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1006-1008)ccC>ccA		Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.							95	100	98					1																	1152973		2203	4299	6502	SO:0001819	synonymous_variant	51150				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1152973G>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.1008C>A	1.37:g.1152973G>T			Somatic				SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_3'UTR|SDF4_uc009vjw.3_Non-coding_Transcript	p.P336P	NM_016176	NP_057260	WXS	Illumina GAIIx	Phase_I	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	6	1337	-	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)	336			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.1008C>A	CCDS30553.1																																																																																				0.642	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		4	77	0	0	0	1	0	4	77					T	1152973	G	T	1152973	2	4	23	1	0	0	0	0	0	0	0	1	13962	1103	39	4		4	SDF4	1	1152973	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		1152973	248097648	1	502											
OR2G3	81469	broad.mit.edu	37	1	247769085	247769085	+	Silent	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr1:247769085C>G	ENST00000320002.2	+	1	230	c.198C>G	c.(196-198)ctC>ctG	p.L66L	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	66						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(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGCAACCTCTCTTTACTGG	0.458																																						uc010pyz.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(196-198)ctC>ctG		Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.							276	262	267					1																	247769085		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769085C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.198C>G	1.37:g.247769085C>G			Somatic					p.L66L	NM_001001914	NP_001001914	WXS	Illumina GAIIx	Phase_I	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	198	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		66					B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.198C>G	CCDS31093.1																																																																																				0.458	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			4	324	0	0	0	1	0	4	324					G	247769085	C	G	247769085	2	3	23	1	0	0	0	0	0	0	0	1	10999	900	32	4		4	OR2G3	1	247769085	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	246616112	247769085	1481536	2	503											
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	rs201197388		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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)			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)	CTGTCGAAGCGTTGAACTCGA	0.408																																						uc010fsp.3																			0				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.(1324-1326)Gtt>Att		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62	59	60		1324	1.0	1.0	2		60	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	442/1096	198949565	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949565G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1324G>A	2.37:g.198949565G>A	ENSP00000402861:p.Val442Ile		Somatic				PLCL1_uc002uuv.4_Missense_Mutation_p.V363I	p.V442I	NM_006226	NP_006217	WXS	Illumina GAIIx	Phase_I	Q15111	PLCL1_HUMAN			1	1722	+			442			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1324G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	g	2.384	-0.341507	0.05243	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.55413	0.52;0.52	5.94	1.05	0.20165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279290	0.31031	N	0.008399	T	0.30696	0.0773	N	0.13235	0.315	0.22940	N	0.998531	B;B	0.21147	0.052;0.021	B;B	0.24006	0.05;0.05	T	0.18871	-1.0323	9	.	.	.	.	9.6222	0.39727	0.7455:0.0:0.2545:0.0	.	442;368	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	442;344	ENSP00000402861:V442I;ENSP00000414138:V344I	.	V	+	1	0	PLCL1	198657810	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.516000	0.45520	0.161000	0.19458	-0.405000	0.06341	GTT		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		38	30	0	0	0	1	0	38	30					A	198949565	G	A	198949565	3	1	23	1	0	0	0	0	1	0	0	0	12039	1145	40	1	1330	1	PLCL1	2	198949565	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		198949565	44249808	3	504											
COL6A3	1293	broad.mit.edu	37	2	238280733	238280733	+	Missense_Mutation	SNP	C	C	A	rs201240081		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:238280733C>A	ENST00000295550.4	-	9	4379	c.3927G>T	c.(3925-3927)caG>caT	p.Q1309H	COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1309	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACGTTGATCTGCCGCCCTC	0.617																																						uc002vwl.2																			0		p.R1308W(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3925-3927)caG>caT		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							61	54	56					2																	238280733		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280733C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3927G>T	2.37:g.238280733C>A	ENSP00000295550:p.Gln1309His		Somatic				COL6A3_uc002vwo.2_Missense_Mutation_p.Q1103H|COL6A3_uc010znj.1_Missense_Mutation_p.Q702H|COL6A3_uc002vwq.3_Missense_Mutation_p.Q1103H|COL6A3_uc002vwr.3_Missense_Mutation_p.Q902H	p.Q1309H	NM_004369	NP_004360	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	4212	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1309			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3927G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891762	0.33442	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.84	2.57	0.30868	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000083	D	0.85699	0.5757	L	0.58428	1.81	0.09310	N	0.999997	D;P;P;D;D	0.71674	0.997;0.747;0.869;0.997;0.998	D;P;P;D;D	0.77557	0.99;0.866;0.89;0.967;0.956	T	0.73930	-0.3827	10	0.41790	T	0.15	.	4.9214	0.13871	0.1382:0.525:0.0:0.3368	.	702;902;1103;1103;1309	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1309;1108;1103;702;1103;1109;1103;902	ENSP00000295550:Q1309H;ENSP00000315609:Q1108H;ENSP00000315873:Q1103H;ENSP00000418285:Q702H;ENSP00000386844:Q1103H;ENSP00000295546:Q1109H;ENSP00000375861:Q1103H;ENSP00000375860:Q902H	ENSP00000295550:Q1309H	Q	-	3	2	COL6A3	237945472	0.000000	0.05858	0.336000	0.25522	0.367000	0.29736	-0.915000	0.04033	0.689000	0.31550	0.655000	0.94253	CAG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		26	80	0	0	0	1	0	26	80					A	238280733	C	A	238280733	3	1	23	1	0	0	0	0	1	0	0	0	3701	912	32	4	5797	4	COL6A3	2	238280733	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	39331168	238280733	4918640	4	505											
KBTBD8	84541	broad.mit.edu	37	3	67058637	67058637	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:67058637T>C	ENST00000417314.2	+	4	1683	c.1634T>C	c.(1633-1635)gTt>gCt	p.V545A	KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A|KBTBD8_ENST00000295568.4_Missense_Mutation_p.V519A			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	545						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAAGTGACTGTTGAAGAACAC	0.403																																						uc003dmy.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1633-1635)gTt>gCt		Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.							112	109	110					3																	67058637		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058637T>C	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1634T>C	3.37:g.67058637T>C	ENSP00000401878:p.Val545Ala		Somatic				KBTBD8_uc011bfv.2_Missense_Mutation_p.V103A	p.V545A	NM_032505	NP_115894	WXS	Illumina GAIIx	Phase_I	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1687	+		Lung NSC(201;0.0765)	545					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1634T>C	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861749	0.51482	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71934	-0.61;-0.48;-0.61	5.37	5.37	0.77165	Kelch-type beta propeller (1);	1.149780	0.06215	N	0.685764	T	0.66406	0.2786	N	0.24115	0.695	0.80722	D	1	P;P	0.49961	0.915;0.93	B;P	0.48627	0.441;0.584	T	0.54173	-0.8333	10	0.08599	T	0.76	.	15.3743	0.74593	0.0:0.0:0.0:1.0	.	103;545	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	A	519;103;545	ENSP00000295568:V519A;ENSP00000419738:V103A;ENSP00000401878:V545A	ENSP00000295568:V519A	V	+	2	0	KBTBD8	67141327	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.008000	0.88588	2.041000	0.60428	0.528000	0.53228	GTT		0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		9	79	0	0	0	1	0	9	79					C	67058637	T	C	67058637	3	2	23	1	0	0	0	0	1	0	0	0	7999	1725	60	3	1648	3	KBTBD8	3	67058637	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		67058637	130963793	5	506											
ZIC1	7545	broad.mit.edu	37	3	147128058	147128058	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:147128058G>A	ENST00000282928.4	+	1	888	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	53					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCCCAGTTCGCACGAGCTGG	0.721																																						uc003ewe.3																			0		p.S53L(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(157-159)tcG>tcA		Homo sapiens Zic family member 1 (ZIC1), mRNA.							28	31	30					3																	147128058		2198	4293	6491	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128058G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.159G>A	3.37:g.147128058G>A			Somatic					p.S53S	NM_003412	NP_003403	WXS	Illumina GAIIx	Phase_I	Q15915	ZIC1_HUMAN			0	878	+			53					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.159G>A	CCDS3136.1																																																																																				0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		22	33	0	0	0	1	0	22	33					A	147128058	G	A	147128058	2	1	23	1	0	0	0	0	0	0	0	1	17675	1074	38	1		1	ZIC1	3	147128058	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	80069421	147128058	50894372	6	507											
HTR3C	170572	broad.mit.edu	37	3	183777419	183777419	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:183777419C>T	ENST00000318351.1	+	7	950	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	306					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGTGGCACCCCCCTCATCAG	0.582																																						uc003fmk.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(916-918)Ccc>Tcc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.							135	123	127					3																	183777419		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777419C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24003	protein-coding gene	gene with protein product		610121	"5-hydroxytryptamine (serotonin) receptor 3, family member C"			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.916C>T	3.37:g.183777419C>T	ENSP00000322617:p.Pro306Ser		Somatic					p.P306S	NM_130770	NP_570126	WXS	Illumina GAIIx	Phase_I	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	950	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		306					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.916C>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	16.16	3.045665	0.55110	.	.	ENSG00000178084	ENST00000318351	D	0.91124	-2.79	3.87	3.87	0.44632	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.131112	0.52532	N	0.000077	D	0.92031	0.7475	M	0.67625	2.065	0.44816	D	0.997822	P	0.45011	0.848	P	0.51297	0.665	D	0.92835	0.6283	10	0.66056	D	0.02	.	13.3708	0.60711	0.0:1.0:0.0:0.0	.	306	Q8WXA8	5HT3C_HUMAN	S	306	ENSP00000322617:P306S	ENSP00000322617:P306S	P	+	1	0	HTR3C	185260113	1.000000	0.71417	0.981000	0.43875	0.219000	0.24729	7.346000	0.79347	2.009000	0.58944	0.655000	0.94253	CCC		0.582	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		10	133	0	0	0	1	0	10	133					T	183777419	C	T	183777419	3	4	23	1	0	0	0	0	1	0	0	0	7446	623	22	2	942	2	HTR3C	3	183777419	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	36649361	183777419	14245011	7	508											
IL7R	3575	broad.mit.edu	37	5	35875685	35875685	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:35875685G>C	ENST00000303115.3	+	7	1001	c.872G>C	c.(871-873)aGa>aCa	p.R291T	IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q|IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	291					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(871-873)aGa>aCa		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							85	83	84					5																	35875685		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35875685G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.872G>C	5.37:g.35875685G>C	ENSP00000306157:p.Arg291Thr		Somatic				IL7R_uc011coo.2_Missense_Mutation_p.E260Q|IL7R_uc011cop.2_Non-coding_Transcript	p.R291T	NM_002185	NP_002176	WXS	Illumina GAIIx	Phase_I	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		6	961	+	all_lung(31;0.00015)		291					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.872G>C	CCDS3911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.174595|2.174595	0.38413|0.38413	.|.	.|.	ENSG00000168685|ENSG00000168685	ENST00000343305;ENST00000506850;ENST00000505093|ENST00000303115;ENST00000505875	T;T|T;T	0.49139|0.32023	0.79;0.8|1.96;1.47	5.77|5.77	3.34|3.34	0.38264|0.38264	.|.	.|0.320874	.|0.33217	.|N	.|0.005160	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.14661|0.14661	0.345|0.345	0.21290|0.21290	N|N	0.999731|0.999731	B|B	0.19583|0.02656	0.037|0.0	B|B	0.14578|0.01281	0.011|0.0	T|T	0.18618|0.18618	-1.0331|-1.0331	9|10	0.34782|0.72032	T|D	0.22|0.01	-13.2858|-13.2858	3.8533|3.8533	0.08965|0.08965	0.7088:0.0:0.1059:0.1852|0.7088:0.0:0.1059:0.1852	.|.	260|291	D6RGV2|P16871	.|IL7RA_HUMAN	Q|T	260;260;63|291;57	ENSP00000345819:E260Q;ENSP00000421207:E260Q|ENSP00000306157:R291T;ENSP00000420923:R57T	ENSP00000345819:E260Q|ENSP00000306157:R291T	E|R	+|+	1|2	0|0	IL7R|IL7R	35911442|35911442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	1.534000|1.534000	0.36051|0.36051	0.419000|0.419000	0.25927|0.25927	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.413	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			11	20	0	0	0	1	0	11	20					C	35875685	G	C	35875685	3	2	23	1	0	0	0	0	1	0	0	0	7705	942	33	4	898	4	IL7R	5	35875685	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		35875685	145039575	8	509											
TTC37	9652	broad.mit.edu	37	5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:94858951C>A	ENST00000358746.2	-	18	2010	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	571						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						ATAGTATAGTCCTCGCCTAAG	0.393																																						uc003klb.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1711-1713)gGa>gTa		Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.							182	177	179					5																	94858951		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94858951C>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1712G>T	5.37:g.94858951C>A	ENSP00000351596:p.Gly571Val		Somatic				TTC37_uc010jbf.2_Missense_Mutation_p.G523V	p.G571V	NM_014639	NP_055454	WXS	Illumina GAIIx	Phase_I	Q6PGP7	TTC37_HUMAN			17	2009	-			571					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1712G>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639611	0.87760	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.80824	-1.42;-1.42	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96478	0.9354	10	0.72032	D	0.01	.	18.3902	0.90479	0.0:1.0:0.0:0.0	.	523;571	D6RCE2;Q6PGP7	.;TTC37_HUMAN	V	571;523	ENSP00000351596:G571V;ENSP00000423742:G523V	ENSP00000351596:G571V	G	-	2	0	TTC37	94884707	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.150000	0.77403	2.402000	0.81655	0.557000	0.71058	GGA		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		45	78	0	0	0	1	0	45	78					A	94858951	C	A	94858951	3	1	23	1	0	0	0	0	1	0	0	0	16702	855	30	4	3086	4	TTC37	5	94858951	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	58983266	94858951	86056309	9	510											
SHROOM1	134549	broad.mit.edu	37	5	132158517	132158517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:132158517G>A	ENST00000378679.3	-	10	3334	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775*|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	844					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)			AAGGGCGGCTGAACTGGAGGA	0.622																																						uc003kxx.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.(2530-2532)Cag>Tag		Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.							28	31	30					5																	132158517		2199	4299	6498	SO:0001587	stop_gained	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158517G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2530C>T	5.37:g.132158517G>A	ENSP00000367950:p.Gln844*		Somatic				SHROOM1_uc003kxy.2_Nonsense_Mutation_p.Q839*	p.Q844*	NM_001172700	NP_001166171	WXS	Illumina GAIIx	Phase_I	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	3335	-			844					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	ENST00000378679.3	37	c.2530C>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574161	0.86542	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	.	.	.	4.03	-2.63	0.06133	.	1.556200	0.03641	N	0.239593	.	.	.	.	.	.	0.26134	N	0.980374	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.3457	4.6822	0.12741	0.0:0.2992:0.3504:0.3504	.	.	.	.	X	844;839;775	.	ENSP00000324245:Q839X	Q	-	1	0	SHROOM1	132186416	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.105000	0.10907	-0.478000	0.06823	-1.193000	0.01689	CAG		0.622	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		15	17	0	0	0	1	0	15	17					A	132158517	G	A	132158517	4	1	23	1	0	0	0	0	0	1	0	0	14293	1299	45	2	32	2	SHROOM1	5	132158517	Nonsense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	37299566	132158517	48756743	10	511											
TRIM7	81786	broad.mit.edu	37	5	180622520	180622520	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:180622520C>T	ENST00000274773.7	-	7	1243	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	TRIM7_ENST00000393319.3_Silent_p.S212S|TRIM7_ENST00000393315.1_Silent_p.S186S|TRIM7_ENST00000361809.3_Silent_p.S186S|CTC-338M12.5_ENST00000508877.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.5_ENST00000514487.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Silent_p.S186S|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	394	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)		GATGCCGGCCCGAGGAGAAGC	0.706																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(1180-1182)tcG>tcA		Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.							23	26	25					5																	180622520		2181	4262	6443	SO:0001819	synonymous_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622520C>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1182G>A	5.37:g.180622520C>T			Somatic				TRIM7_uc003mmv.1_Silent_p.S212S|TRIM7_uc003mmw.1_Silent_p.S186S|TRIM7_uc003mmy.1_Silent_p.S186S|TRIM7_uc003mmx.1_Silent_p.S186S	p.S394S	NM_203293	NP_976041	WXS	Illumina GAIIx	Phase_I	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)	6	1249	-	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)	394			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	c.1182G>A	CCDS4462.1																																																																																				0.706	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		8	58	0	0	0	1	0	8	58					T	180622520	C	T	180622520	2	4	23	1	0	0	0	0	0	0	0	1	16540	639	23	1		1	TRIM7	5	180622520	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	48464003	180622520	292740	11	512											
JARID2	3720	broad.mit.edu	37	6	15513524	15513524	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:15513524C>T	ENST00000341776.2	+	16	3565	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	JARID2_ENST00000397311.3_Silent_p.S935S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1107					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCACTCCTCCGCACGCTATG	0.637																																						uc003nbj.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(3319-3321)tcC>tcT		Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.							26	23	24					6																	15513524		2177	4232	6409	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15513524C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3321C>T	6.37:g.15513524C>T			Somatic				JARID2_uc011div.2_Silent_p.S935S	p.S1107S	NM_004973	NP_004964	WXS	Illumina GAIIx	Phase_I	Q92833	JARD2_HUMAN			15	3565	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1107					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.3321C>T	CCDS4533.1																																																																																				0.637	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		15	14	0	0	0	1	0	15	14					T	15513524	C	T	15513524	2	4	23	1	0	0	0	0	0	0	0	1	7945	639	23	1		1	JARID2	6	15513524	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		15513524	155601543	12	513											
HIST1H1E	3008	broad.mit.edu	37	6	26156708	26156708	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:26156708G>C	ENST00000304218.3	+	1	150	c.90G>C	c.(88-90)gcG>gcC	p.A30A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	30					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTGCAGGTGCGGCCAAGCGCA	0.642																																						uc003ngq.3																			0		p.G29D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(88-90)gcG>gcC		Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.							27	35	33					6																	26156708		2193	4290	6483	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156708G>C	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.90G>C	6.37:g.26156708G>C			Somatic				HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	p.A30A	NM_005321	NP_005312	WXS	Illumina GAIIx	Phase_I	P10412	H14_HUMAN			0	150	+			30					Q4VB25	Silent	SNP	ENST00000304218.3	37	c.90G>C	CCDS4586.1																																																																																				0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		47	72	0	0	0	1	0	47	72					C	26156708	G	C	26156708	2	2	23	1	0	0	0	0	0	0	0	1	7126	1103	39	4		4	HIST1H1E	6	26156708	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	10643184	26156708	144958359	13	514											
TMEM195	392636	broad.mit.edu	37	7	15430321	15430321	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:15430321T>C	ENST00000342526.3	-	8	966	c.797A>G	c.(796-798)aAt>aGt	p.N266S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	266					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTCAAATGTATTAATGGGATG	0.289																																						uc003stb.1																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(796-798)aAt>aGt		Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.							125	137	133					7																	15430321		2202	4298	6500	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430321T>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.797A>G	7.37:g.15430321T>C	ENSP00000341662:p.Asn266Ser		Somatic					p.N266S	NM_001004320	NP_001004320	WXS	Illumina GAIIx	Phase_I	Q6ZNB7	ALKMO_HUMAN			7	967	-			266					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.797A>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016614	0.35606	.	.	ENSG00000187546	ENST00000342526	T	0.32515	1.45	5.33	4.18	0.49190	.	0.356195	0.34879	N	0.003612	T	0.28366	0.0701	L	0.54965	1.715	0.26887	N	0.967405	B	0.16802	0.019	B	0.22601	0.04	T	0.17107	-1.0380	10	0.26408	T	0.33	-14.8569	10.522	0.44924	0.0:0.0776:0.0:0.9224	.	266	Q6ZNB7	ALKMO_HUMAN	S	266	ENSP00000341662:N266S	ENSP00000341662:N266S	N	-	2	0	AGMO	15396846	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.875000	0.56108	0.977000	0.38444	0.482000	0.46254	AAT		0.289	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		56	69	0	0	0	1	0	56	69					C	15430321	T	C	15430321	3	2	23	1	0	0	0	0	1	0	0	0	16114	1493	52	3	564	3	TMEM195	7	15430321	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		15430321	143708342	14	515											
STEAP2	261729	broad.mit.edu	37	7	89856412	89856412	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:89856412G>T	ENST00000287908.3	+	3	1013	c.620G>T	c.(619-621)cGa>cTa	p.R207L	STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L|STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	207					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACCCCTACGACTCTTTACT	0.438																																						uc010len.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(619-621)cGa>cTa		Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.							103	99	100					7																	89856412		2203	4300	6503	SO:0001583	missense	261729				Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856412G>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.620G>T	7.37:g.89856412G>T	ENSP00000287908:p.Arg207Leu		Somatic				STEAP2_uc003ujy.2_Missense_Mutation_p.R249L|STEAP2_uc003uka.3_Missense_Mutation_p.R207L|STEAP2_uc003ujz.3_Missense_Mutation_p.R207L|STEAP2_uc003ukc.3_Missense_Mutation_p.R207L|STEAP2_uc003ukb.3_Missense_Mutation_p.R207L|STEAP2_uc003ukd.3_Missense_Mutation_p.R207L	p.R207L	NM_001244944	NP_001231873	WXS	Illumina GAIIx	Phase_I	Q8NFT2	STEA2_HUMAN			3	1126	+	all_hematologic(106;0.112)		207					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.620G>T	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722966	0.48728	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	6.08	4.3	0.51218	.	0.219115	0.42294	D	0.000737	T	0.12178	0.0296	L	0.33485	1.01	0.38776	D	0.954655	P;B;P;P	0.36733	0.567;0.431;0.552;0.552	B;B;B;B	0.31191	0.061;0.03;0.125;0.086	T	0.12319	-1.0552	9	.	.	.	-4.163	13.1287	0.59369	0.1293:0.0:0.8707:0.0	.	207;207;207;207	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	207	ENSP00000287908:R207L;ENSP00000378123:R207L;ENSP00000378120:R207L;ENSP00000378128:R207L;ENSP00000378119:R207L;ENSP00000384191:R207L;ENSP00000378125:R207L	.	R	+	2	0	STEAP2	89694348	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	2.680000	0.46918	0.915000	0.36847	-0.137000	0.14449	CGA		0.438	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		24	37	0	0	0	1	0	24	37					T	89856412	G	T	89856412	3	4	23	1	0	0	0	0	1	0	0	0	15277	1058	37	4	626	4	STEAP2	7	89856412	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	74426091	89856412	69282251	15	516											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	34	0	0	0	1	0	23	34					T	140453136	A	T	140453136	3	4	23	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A290-01A-11D-A17V-08	50596724	140453136	18685527	16	517											
TG	7038	broad.mit.edu	37	8	133880376	133880376	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr8:133880376C>T	ENST00000220616.4	+	2	124	c.84C>T	c.(82-84)gcC>gcT	p.A28A	TG_ENST00000377869.1_Silent_p.A28A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	28					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)		AGGTGGATGCCCAGCCCCTTC	0.547																																						uc003ytw.3																			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.(82-84)gcC>gcT		Homo sapiens thyroglobulin (TG), mRNA.							99	88	92					8																	133880376		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880376C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.84C>T	8.37:g.133880376C>T			Somatic					p.A28A	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	1	125	+	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)	28					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.84C>T	CCDS34944.1																																																																																				0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		13	37	0	0	0	1	0	13	37					T	133880376	C	T	133880376	2	4	23	1	0	0	0	0	0	0	0	1	15810	610	22	2		2	TG	8	133880376	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		133880376	12483646	17	518											
TEK	7010	broad.mit.edu	37	9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:27157925G>A	ENST00000380036.4	+	2	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	50	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R50H(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGGGTGGCGCCCCCATGAG	0.502																																						uc003zqi.4																			1	Substitution - Missense(1)	p.R50H(1)|p.W49*(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(148-150)cGc>cAc		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							145	129	134					9																	27157925		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27157925G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.149G>A	9.37:g.27157925G>A	ENSP00000369375:p.Arg50His		Somatic				TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.R50H|TEK_uc011lno.2_Missense_Mutation_p.R50H|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.R27H	p.R50H	NM_000459	NP_000450	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	1	591	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	50			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.149G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960706	0.18583	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73789	-0.75;-0.78	5.93	-2.2	0.06994	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.582526	0.15628	N	0.252547	T	0.50752	0.1634	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.31223	-0.9951	10	0.32370	T	0.25	.	12.5809	0.56390	0.5636:0.0:0.4364:0.0	.	83;50;50;50	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	H	50	ENSP00000369375:R50H;ENSP00000383977:R50H	ENSP00000343716:R50H	R	+	2	0	TEK	27147925	0.079000	0.21365	0.119000	0.21687	0.912000	0.54170	0.280000	0.18790	-0.463000	0.06973	-0.940000	0.02684	CGC		0.502	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			50	81	0	0	0	1	0	50	81					A	27157925	G	A	27157925	3	1	23	1	0	0	0	0	1	0	0	0	15748	1087	38	1	155	1	TEK	9	27157925	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		27157925	114055506	18	519											
IL11RA	3590	broad.mit.edu	37	9	34659885	34659885	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:34659885A>C	ENST00000555003.1	+	9	2296	c.940A>C	c.(940-942)Act>Cct	p.T314P	IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|RP11-195F19.30_ENST00000564224.1_RNA|IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P|IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|CCL27_ENST00000557161.1_5'Flank			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	314	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGCCTGGGGAACTCCGAGCAC	0.592																																						uc003zvi.3																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(940-942)Act>Cct		Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	Oprelvekin(DB00038)						41	44	43					9																	34659885		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34659885A>C	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.940A>C	9.37:g.34659885A>C	ENSP00000450565:p.Thr314Pro		Somatic				IL11RA_uc011loq.2_Missense_Mutation_p.T314P|IL11RA_uc003zvj.3_Missense_Mutation_p.T314P|IL11RA_uc003zvk.3_Missense_Mutation_p.T314P|IL11RA_uc010mke.3_Missense_Mutation_p.T196P	p.T314P	NM_004512	NP_004503	WXS	Illumina GAIIx	Phase_I	Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	8	2296	+	all_epithelial(49;0.102)		314					Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.940A>C	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262533	0.80358	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.43294	1.13;1.13;0.95;1.13	5.48	5.48	0.80851	.	0.264995	0.41823	D	0.000807	T	0.65595	0.2706	M	0.80183	2.485	0.42176	D	0.991662	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.70594	-0.4829	10	0.62326	D	0.03	-10.0789	13.5135	0.61526	1.0:0.0:0.0:0.0	.	314;314	Q5VZ79;Q14626	.;I11RA_HUMAN	P	314	ENSP00000450565:T314P;ENSP00000394391:T314P;ENSP00000368094:T314P;ENSP00000326500:T314P	ENSP00000326500:T314P	T	+	1	0	IL11RA	34649885	0.973000	0.33851	0.591000	0.28745	0.959000	0.62525	5.874000	0.69652	2.073000	0.62155	0.460000	0.39030	ACT		0.592	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		16	29	0	0	0	1	0	16	29					C	34659885	A	C	34659885	3	2	23	1	0	0	0	0	1	0	0	0	7623	43	2	5	970	5	IL11RA	9	34659885	Missense_Mutation	SNP	A	TCGA-BJ-A290-01A-11D-A17V-08	7501960	34659885	106553546	19	520											
KRTAP5-11	440051	broad.mit.edu	37	11	71293827	71293827	+	Silent	SNP	G	G	A	rs373629079		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:71293827G>A	ENST00000398530.1	-	1	94	c.57C>T	c.(55-57)tcC>tcT	p.S19S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632																																						uc001oqu.3																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(55-57)tcC>tcT		Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.		G		1,4377		0,1,2188	32	45	41		57	-0.1	0.9	11		41	1,8579		0,1,4289	no	coding-synonymous	KRTAP5-11	NM_001005405.2		0,2,6477	AA,AG,GG		0.0117,0.0228,0.0154		19/157	71293827	2,12956	2189	4290	6479	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293827G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"Keratin associated proteins"	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.57C>T	11.37:g.71293827G>A			Somatic					p.S19S	NM_001005405	NP_001005405	WXS	Illumina GAIIx	Phase_I	Q6L8G4	KR511_HUMAN			0	95	-			19						Silent	SNP	ENST00000398530.1	37	c.57C>T	CCDS41685.1																																																																																				0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		18	68	0	0	0	1	0	18	68					A	71293827	G	A	71293827	2	1	23	1	0	0	0	0	0	0	0	1	8560	1103	39	1		1	KRTAP5-11	11	71293827	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		71293827	63712689	20	521											
OR8G1	26494	broad.mit.edu	37	11	124121061	124121061	+	RNA	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:124121061C>A	ENST00000534473.2	+	0	639				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						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)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CCAGCCTGACCATCCTTTGCT	0.458																																						uc001pzx.3																			0											c.(637-639)acC>acA		Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.							145	134	138					11																	124121061		2061	4233	6294			26494				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124121061C>A	AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"GPCR / Class A : Olfactory receptors"	8484	protein-coding gene	gene with protein product			"olfactory receptor, family 8, subfamily G, member 1 pseudogene"	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124121061C>A			Somatic					p.T213T	NM_001002905	NP_001002905	WXS	Illumina GAIIx	Phase_I	Q15617	OR8G1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)	0	639	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	213					Q8NG88	Silent	SNP	ENST00000534473.2	37	c.639C>A																																																																																					0.458	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387282.2	NM_001002905		31	30	0	0	0	1	0	31	30					A	124121061	C	A	124121061	1	1	23	0	1	0	0	0	0	0	0	0	11234	581	21	4		4	OR8G1	11	124121061	RNA	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	52827234	124121061	10885455	21	522											
LRTM2	654429	broad.mit.edu	37	12	1943779	1943779	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:1943779C>T	ENST00000543818.1	+	5	1847	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.Y335Y|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Silent_p.Y335Y|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	335						integral component of membrane (GO:0016021)		p.Y335Y(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637																																						uc001qjt.2																			2	Substitution - coding silent(2)	p.Y335Y(4)|p.I334F(1)	ovary(1)|lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1003-1005)taC>taT		Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.							44	40	42					12																	1943779		2200	4284	6484	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1943779C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.1005C>T	12.37:g.1943779C>T			Somatic				CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.Y335Y|LRTM2_uc010sdx.1_Silent_p.Y335Y|LRTM2_uc001qjv.2_Silent_p.Y97Y	p.Y335Y	NM_001039029	NP_001157398	WXS	Illumina GAIIx	Phase_I	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1811	+	Ovarian(42;0.107)		335					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.1005C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134459	0.09032	.	.	ENSG00000166159	ENST00000424079	.	.	.	5.3	-5.34	0.02705	.	.	.	.	.	T	0.70430	0.3223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76233	-0.3034	5	0.87932	D	0	.	15.8497	0.78921	0.0:0.2259:0.0:0.7741	.	.	.	.	C	92	.	ENSP00000394967:R92C	R	+	1	0	LRTM2	1814040	0.021000	0.18746	0.908000	0.35775	0.520000	0.34377	-0.805000	0.04530	-1.063000	0.03177	-1.036000	0.02392	CGC		0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			40	40	0	0	0	1	0	40	40					T	1943779	C	T	1943779	2	4	23	1	0	0	0	0	0	0	0	1	9045	547	19	1		1	LRTM2	12	1943779	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		1943779	131908116	22	523											
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Silent	SNP	C	C	T	rs267607456		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:52913586C>T	ENST00000252242.4	-	1	885	c.495G>A	c.(493-495)agG>agA	p.R165R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	165	Head.		R -> S (in DM-EBS). {ECO:0000269|PubMed:21623745}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522																																						uc001san.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(493-495)agG>agA		Homo sapiens keratin 5 (KRT5), mRNA.							179	171	174					12																	52913586		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913586C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.495G>A	12.37:g.52913586C>T			Somatic				KRT5_uc009zmh.3_Silent_p.R165R	p.R165R	NM_000424	NP_000415	WXS	Illumina GAIIx	Phase_I	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	0	658	-			165			Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.495G>A	CCDS8830.1																																																																																				0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			7	148	0	0	0	1	0	7	148					T	52913586	C	T	52913586	2	4	23	1	0	0	0	0	0	0	0	1	8479	854	30	2		2	KRT5	12	52913586	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08	50969807	52913586	80938309	23	524											
STAB2	55576	broad.mit.edu	37	12	104100607	104100607	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:104100607G>T	ENST00000388887.2	+	38	4238	c.4034G>T	c.(4033-4035)tGc>tTc	p.C1345F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCCCCCAATGCCAGCCCTGC	0.547																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4033-4035)tGc>tTc		Homo sapiens stabilin 2 (STAB2), mRNA.							123	117	119					12																	104100607		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104100607G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4034G>T	12.37:g.104100607G>T	ENSP00000373539:p.Cys1345Phe		Somatic					p.C1345F	NM_017564	NP_060034	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			37	4220	+			1345			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4034G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174352	0.57692	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.85258	-1.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.95294	3.65	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96017	0.9006	10	0.87932	D	0	.	19.8101	0.96543	0.0:0.0:1.0:0.0	.	1345	Q8WWQ8	STAB2_HUMAN	F	1345;32	ENSP00000373539:C1345F	ENSP00000258495:C32F	C	+	2	0	STAB2	102624737	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.151000	0.94674	2.696000	0.92011	0.655000	0.94253	TGC		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			21	45	0	0	0	1	0	21	45					T	104100607	G	T	104100607	3	4	23	1	0	0	0	0	1	0	0	0	15237	1319	46	4	4184	4	STAB2	12	104100607	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	51187021	104100607	29751288	24	525											
AGBL1	123624	broad.mit.edu	37	15	86838596	86838596	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr15:86838596G>C	ENST00000441037.2	+	16	2288	c.2193G>C	c.(2191-2193)acG>acC	p.T731T	AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T462T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.T731T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498																																						uc002blz.1																			1	Substitution - coding silent(1)	p.T731T(2)	prostate(1)	NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2191-2193)acG>acC		Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.							110	110	110					15																	86838596		1998	4176	6174	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838596G>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2193G>C	15.37:g.86838596G>C			Somatic				AGBL1_uc002bma.1_Silent_p.T462T|AGBL1_uc002bmb.1_Silent_p.T425T	p.T731T	NM_152336	NP_689549	WXS	Illumina GAIIx	Phase_I	Q96MI9	CBPC4_HUMAN			15	2273	+			731					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2193G>C	CCDS58398.1																																																																																				0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		3	69	0	0	0	1	0	3	69					C	86838596	G	C	86838596	2	2	23	1	0	0	0	0	0	0	0	1	375	1103	39	4		4	AGBL1	15	86838596	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		86838596	15692796	25	526											
UMOD	7369	broad.mit.edu	37	16	20355366	20355366	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr16:20355366G>A	ENST00000570689.1	-	6	1457	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Silent_p.T437T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000396134.2_Silent_p.T470T			P07911	UROM_HUMAN	uromodulin	437	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						GCTGTAGGGCGGTCTTCAGGC	0.537																																						uc002dhb.3																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1408-1410)acC>acT		Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.							120	102	108					16																	20355366		2203	4300	6503	SO:0001819	synonymous_variant	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.chr16:20355366G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1311C>T	16.37:g.20355366G>A			Somatic				UMOD_uc002dgz.3_Silent_p.T437T|UMOD_uc002dha.3_Silent_p.T437T	p.T470T	NM_003361	NP_003352	WXS	Illumina GAIIx	Phase_I	P07911	UROM_HUMAN			6	1539	-			437			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1410C>T	CCDS10583.1																																																																																				0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			22	43	0	0	0	1	0	22	43					A	20355366	G	A	20355366	2	1	23	1	0	0	0	0	0	0	0	1	16976	1103	39	1		1	UMOD	16	20355366	Silent	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		20355366	69999387	26	527											
MAP3K3	4215	broad.mit.edu	37	17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:61759152C>T	ENST00000361733.3	+	7	849	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S|MAP3K3_ENST00000361357.3_Missense_Mutation_p.P208S|MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	177					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607																																						uc002jbe.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(622-624)Cct>Tct		Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.							99	91	94					17																	61759152		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61759152C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.529C>T	17.37:g.61759152C>T	ENSP00000354485:p.Pro177Ser		Somatic				MAP3K3_uc002jbf.3_Missense_Mutation_p.P208S|MAP3K3_uc002jbg.3_Missense_Mutation_p.P177S|MAP3K3_uc002jbh.3_Missense_Mutation_p.P208S|MAP3K3_uc010wpo.2_Missense_Mutation_p.P92S|MAP3K3_uc010wpp.2_Missense_Mutation_p.P177S	p.P208S	NM_203351	NP_976226	WXS	Illumina GAIIx	Phase_I	Q99759	M3K3_HUMAN			8	688	+			177					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.622C>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158497	0.94686	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.75938	-0.98;-0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.79926	2.475	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	D	0.88505	0.3085	10	0.87932	D	0	.	19.6853	0.95977	0.0:1.0:0.0:0.0	.	177;145;177;208	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	S	208;177	ENSP00000354927:P208S;ENSP00000354485:P177S	ENSP00000354927:P208S	P	+	1	0	MAP3K3	59112884	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.744000	0.85034	2.737000	0.93849	0.561000	0.74099	CCT		0.607	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		43	62	0	0	0	1	0	43	62					T	61759152	C	T	61759152	3	4	23	1	0	0	0	0	1	0	0	0	9251	507	18	2	652	2	MAP3K3	17	61759152	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		61759152	19436058	27	528											
RIT2	6014	broad.mit.edu	37	18	40503596	40503596	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr18:40503596T>A	ENST00000326695.5	-	4	538	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RIT2_ENST00000282028.4_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T|RIT2_ENST00000589109.1_Missense_Mutation_p.T123S	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	123					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTCATAGGTGTGGCGGACC	0.493																																						uc002lav.3																			0				endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(367-369)Acc>Tcc		Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.							205	206	206					18																	40503596		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	g.chr18:40503596T>A	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"Ric (Drosophila)-like, expressed in neurons"	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.367A>T	18.37:g.40503596T>A	ENSP00000321805:p.Thr123Ser		Somatic				RIT2_uc010dnf.3_Missense_Mutation_p.T123S	p.T123S	NM_002930	NP_002921	WXS	Illumina GAIIx	Phase_I	Q99578	RIT2_HUMAN			3	540	-			123					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.367A>T	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735808	0.49045	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.70045	-0.37;-0.45	5.45	4.25	0.50352	Small GTP-binding protein domain (1);	0.083798	0.51477	N	0.000086	T	0.60379	0.2264	N	0.05177	-0.1	0.33303	D	0.565091	B;D	0.76494	0.004;0.999	B;D	0.81914	0.009;0.995	T	0.63157	-0.6700	10	0.13470	T	0.59	.	11.8882	0.52615	0.1309:0.0:0.0:0.8691	.	123;123	Q99578-2;Q99578	.;RIT2_HUMAN	S	123	ENSP00000321805:T123S;ENSP00000282028:T123S	ENSP00000282028:T123S	T	-	1	0	RIT2	38757594	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.613000	0.61176	0.958000	0.37956	0.533000	0.62120	ACC		0.493	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		64	111	0	0	0	1	0	64	111					A	40503596	T	A	40503596	3	1	23	1	0	0	0	0	1	0	0	0	13387	1696	59	5	294	5	RIT2	18	40503596	Missense_Mutation	SNP	T	TCGA-BJ-A290-01A-11D-A17V-08		40503596	37573652	28	529											
CEACAM8	1088	broad.mit.edu	37	19	43093666	43093666	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:43093666C>G	ENST00000244336.5	-	3	747	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	216	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGTATTTCACATTCATAG	0.537																																						uc002oud.2																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(646-648)Gaa>Caa		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.							252	229	237					19																	43093666		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43093666C>G	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.646G>C	19.37:g.43093666C>G	ENSP00000244336:p.Glu216Gln		Somatic				AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	p.E216Q	NM_001816	NP_001807	WXS	Illumina GAIIx	Phase_I	P31997	CEAM8_HUMAN			2	748	-		Prostate(69;0.00899)	216			Ig-like C2-type 1.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.646G>C	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.318451	0.40996	.	.	ENSG00000124469	ENST00000244336	T	0.03035	4.07	2.7	0.176	0.15049	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	M	0.78637	2.42	0.09310	N	0.999997	D	0.71674	0.998	D	0.75020	0.985	T	0.10109	-1.0644	9	0.87932	D	0	.	4.5754	0.12230	0.0:0.5785:0.0:0.4215	.	216	P31997	CEAM8_HUMAN	Q	216	ENSP00000244336:E216Q	ENSP00000244336:E216Q	E	-	1	0	CEACAM8	47785506	0.002000	0.14202	0.093000	0.20910	0.178000	0.23041	-0.339000	0.07832	-0.004000	0.14419	0.313000	0.20887	GAA		0.537	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			4	235	0	0	0	1	0	4	235					G	43093666	C	G	43093666	3	3	23	1	0	0	0	0	1	0	0	0	3198	835	29	4	415	4	CEACAM8	19	43093666	Missense_Mutation	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		43093666	16035317	29	530											
GRIN2D	2906	broad.mit.edu	37	19	48908178	48908178	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:48908178G>A	ENST00000263269.3	+	3	741	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	218					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGGAGCACCGCGGAGCGCTG	0.682																																						uc002pjc.4																			0		p.R218C(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(652-654)cGc>cAc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						79	78	79					19																	48908178		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908178G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.653G>A	19.37:g.48908178G>A	ENSP00000263269:p.Arg218His		Somatic					p.R218H	NM_000836	NP_000827	WXS	Illumina GAIIx	Phase_I	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	2	741	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	218						Missense_Mutation	SNP	ENST00000263269.3	37	c.653G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113261	0.77210	.	.	ENSG00000105464	ENST00000263269	D	0.93859	-3.3	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.141001	0.45606	D	0.000348	D	0.93897	0.8047	L	0.29908	0.895	0.40641	D	0.981945	D	0.76494	0.999	D	0.66602	0.945	D	0.94139	0.7395	10	0.44086	T	0.13	.	17.3107	0.87208	0.0:0.0:1.0:0.0	.	218	O15399	NMDE4_HUMAN	H	218	ENSP00000263269:R218H	ENSP00000263269:R218H	R	+	2	0	GRIN2D	53599990	0.996000	0.38824	0.999000	0.59377	0.867000	0.49689	3.348000	0.52209	2.457000	0.83068	0.561000	0.74099	CGC		0.682	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			10	131	0	0	0	1	0	10	131					A	48908178	G	A	48908178	3	1	23	1	0	0	0	0	1	0	0	0	6782	1087	38	1	659	1	GRIN2D	19	48908178	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08	5814512	48908178	10220805	30	531											
SIGLEC6	946	broad.mit.edu	37	19	52033047	52033049	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:52033047_52033049delCTT	ENST00000425629.3	-	5	1095_1097	c.941_943delAAG	c.(940-945)gaagga>gga	p.E314del	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.E262del|SIGLEC6_ENST00000359982.4_In_Frame_Del_p.E325del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.E303del|SIGLEC6_ENST00000346477.3_In_Frame_Del_p.E298del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.E314del	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGAAATCTCCTTCTTCTGCAGA	0.601																																						uc002pwy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(940-945)gaagga>gga		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033047_52033049delCTT	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.941_943delAAG	19.37:g.52033050_52033052delCTT	ENSP00000401502:p.Glu314del		Somatic				SIGLEC6_uc002pwz.3_In_Frame_Del_p.E298del|SIGLEC6_uc010ydb.2_In_Frame_Del_p.E262del|SIGLEC6_uc010ydc.2_In_Frame_Del_p.E325del|SIGLEC6_uc002pxa.3_In_Frame_Del_p.E314del|SIGLEC6_uc010eoz.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epa.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epb.2_In_Frame_Del_p.E267del	p.E314del	NM_001245	NP_001236	WXS	Illumina GAIIx	Phase_I	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	1149_1151	-		all_neural(266;0.0199)	314			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	In_Frame_Del	DEL	ENST00000425629.3	37	c.941_943delAAG	CCDS12834.3																																																																																				0.601	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	56						32	56	---	---	---	---	-	52033049	CTT	-	52033047	7	5	23	1	0	1	0	1	0	0	0	0	14312	690	24	0	434	0	SIGLEC6	19	52033047	In_Frame_Del	DEL	CTT	TCGA-BJ-A290-01A-11D-A17V-08	3124869	52033047	7095936	31	532											
PRIC285	85441	broad.mit.edu	37	20	62198473	62198473	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:62198473C>T	ENST00000467148.1	-	6	2307	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	HELZ2_ENST00000427522.2_Silent_p.T177T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	746	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)										CAATGGCGTCCGTGCAGCGGT	0.662																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(2236-2238)acG>acA		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							63	61	62					20																	62198473		2202	4299	6501	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding	g.chr20:62198473C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2238G>A	20.37:g.62198473C>T			Somatic				PRIC285_uc002yfl.1_Silent_p.T177T	p.T746T	NM_001037335	NP_001032412	WXS	Illumina GAIIx	Phase_I	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	3130	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		746					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2238G>A	CCDS33508.1																																																																																				0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		39	72	0	0	0	1	0	39	72					T	62198473	C	T	62198473	2	4	23	1	0	0	0	0	0	0	0	1	12485	639	23	1		1	PRIC285	20	62198473	Silent	SNP	C	TCGA-BJ-A290-01A-11D-A17V-08		62198473	827047	32	533											
COL6A2	1292	broad.mit.edu	37	21	47552224	47552224	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr21:47552224G>A	ENST00000300527.4	+	28	2922	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	940	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	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)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGAGGCACGCAGAGCTGTC	0.657																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2818-2820)Gca>Aca		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							34	36	35					21																	47552224		2201	4299	6500	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552224G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2818G>A	21.37:g.47552224G>A	ENSP00000300527:p.Ala940Thr		Somatic				COL6A2_uc010gqe.2_Non-coding_Transcript	p.A940T	NM_001849	NP_001840	WXS	Illumina GAIIx	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	27	2900	+	Breast(49;0.245)		940			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2818G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760209	0.49468	.	.	ENSG00000142173	ENST00000300527	T	0.79454	-1.27	4.16	4.16	0.48862	von Willebrand factor, type A (3);	0.000000	0.85682	U	0.000000	D	0.86719	0.6000	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.85291	0.1067	10	0.22706	T	0.39	-21.4829	16.468	0.84090	0.0:0.0:1.0:0.0	.	940	P12110	CO6A2_HUMAN	T	940	ENSP00000300527:A940T	ENSP00000300527:A940T	A	+	1	0	COL6A2	46376652	1.000000	0.71417	0.935000	0.37517	0.035000	0.12851	9.525000	0.98039	1.881000	0.54492	0.297000	0.19635	GCA		0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	19	0	0	0	1	0	9	19					A	47552224	G	A	47552224	3	1	23	1	0	0	0	0	1	0	0	0	3700	1087	38	1	3254	1	COL6A2	21	47552224	Missense_Mutation	SNP	G	TCGA-BJ-A290-01A-11D-A17V-08		47552224	577671	33	534											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		56	87	0	0	0	1	0	56	87					C	115256529	T	C	115256529	3	2	24	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A2N7-01A-11D-A18F-08		115256529	133994092	1	535											
UNC50	25972	broad.mit.edu	37	2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr2:99226304G>A	ENST00000357765.2	+	2	234	c.82G>A	c.(82-84)Gga>Aga	p.G28R	UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|COA5_ENST00000328709.3_5'Flank|COA5_ENST00000409997.1_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.G45R|COA5_ENST00000483527.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483																																						uc010yvl.2																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(133-135)Gga>Aga		Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.							168	168	168					2																	99226304		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226304G>A		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.82G>A	2.37:g.99226304G>A	ENSP00000350409:p.Gly28Arg		Somatic				COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Missense_Mutation_p.G28R|UNC50_uc002szb.3_Missense_Mutation_p.G28R	p.G45R	NM_014044	NP_054763	WXS	Illumina GAIIx	Phase_I	Q53HI1	UNC50_HUMAN			1	367	+			28					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.133G>A	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111883	0.94339	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.55309	-0.8161	9	0.13853	T	0.58	-9.4319	18.0646	0.89387	0.0:0.0:1.0:0.0	.	28	Q53HI1	UNC50_HUMAN	R	28;45;45	.	ENSP00000350409:G28R	G	+	1	0	UNC50	98592736	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.343000	0.79319	2.505000	0.84491	0.591000	0.81541	GGA		0.483	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		4	191	0	0	0	1	0	4	191					A	99226304	G	A	99226304	3	1	24	1	0	0	0	0	1	0	0	0	16987	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-BJ-A2N7-01A-11D-A18F-08		99226304	143973069	2	536											
KIF9	64147	broad.mit.edu	37	3	47308733	47308733	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr3:47308733T>C	ENST00000265529.3	-	7	1292	c.612A>G	c.(610-612)atA>atG	p.I204M	KIF9_ENST00000452770.2_Missense_Mutation_p.I204M|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.I111M|KIF9_ENST00000335044.2_Missense_Mutation_p.I204M|KIF9_ENST00000444589.2_Missense_Mutation_p.I204M			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGGGAGGCTATAATCCTGT	0.443																																					Colon(44;962 1147 15977 24541)	uc010hjp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(610-612)atA>atG		Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.							261	261	261					3																	47308733		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47308733T>C	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.612A>G	3.37:g.47308733T>C	ENSP00000265529:p.Ile204Met		Somatic				KIF9_uc003cqx.3_Missense_Mutation_p.I204M|KIF9_uc003cqy.3_Missense_Mutation_p.I204M|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	p.I204M	NM_001134878	NP_878905	WXS	Illumina GAIIx	Phase_I	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	6	1216	-		Acute lymphoblastic leukemia(5;0.164)	204			Kinesin-motor.		Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.612A>G	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010781	0.54361	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910;ENST00000456548	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;2.26	5.93	-1.34	0.09143	Kinesin, motor domain (4);	0.048294	0.85682	D	0.000000	T	0.65302	0.2678	L	0.45228	1.405	0.38290	D	0.942679	B;P	0.35401	0.141;0.499	B;B	0.41917	0.272;0.37	T	0.61671	-0.7015	10	0.87932	D	0	.	6.6382	0.22895	0.473:0.0:0.2315:0.2955	.	204;204	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	M	204;204;204;204;111;129	ENSP00000333942:I204M;ENSP00000265529:I204M;ENSP00000414987:I204M;ENSP00000391100:I204M;ENSP00000292334:I111M;ENSP00000387959:I129M	ENSP00000265529:I204M	I	-	3	3	KIF9	47283737	0.965000	0.33210	0.996000	0.52242	0.986000	0.74619	-0.069000	0.11542	-0.123000	0.11745	-0.333000	0.08304	ATA		0.443	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			3	236	0	0	0	1	0	3	236					C	47308733	T	C	47308733	3	2	24	1	0	0	0	0	1	0	0	0	8310	1512	53	3	1824	3	KIF9	3	47308733	Missense_Mutation	SNP	T	TCGA-BJ-A2N7-01A-11D-A18F-08		47308733	150713697	3	537											
CHID1	66005	broad.mit.edu	37	11	883172	883172	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr11:883172G>A	ENST00000449825.1	-	10	1291	c.935C>T	c.(934-936)gCc>gTc	p.A312V	CHID1_ENST00000528581.1_Missense_Mutation_p.A337V|CHID1_ENST00000454838.2_Missense_Mutation_p.A337V|CHID1_ENST00000436108.2_Missense_Mutation_p.A312V|CHID1_ENST00000323578.8_Missense_Mutation_p.A312V|CHID1_ENST00000429789.2_Missense_Mutation_p.A281V|CHID1_ENST00000323541.7_Missense_Mutation_p.A342V|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.A337V	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	312					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGGCTCACGGGCATCCTTGGA	0.622																																					Pancreas(117;992 2327 5172 41921)	uc010qwv.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(1117-1119)gCc>gTc		Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.							109	102	105					11																	883172		2203	4299	6502	SO:0001583	missense	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:883172G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.935C>T	11.37:g.883172G>A	ENSP00000391255:p.Ala312Val		Somatic				CHID1_uc010qwu.1_Missense_Mutation_p.A342V|CHID1_uc001lsn.3_Missense_Mutation_p.A337V|CHID1_uc001lso.3_Missense_Mutation_p.A312V|CHID1_uc001lsm.3_Missense_Mutation_p.A312V|CHID1_uc001lsp.3_Missense_Mutation_p.A281V|CHID1_uc010qww.2_Missense_Mutation_p.A312V|AX747537_uc001lsq.1_5'Flank|AX747537_uc001lsr.1_5'Flank	p.A373V	NM_023947	NP_076436	WXS	Illumina GAIIx	Phase_I	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	9	1159	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	312					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	ENST00000449825.1	37	c.1118C>T	CCDS7722.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006439	0.54361	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000429789;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.45	4.45	0.53987	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.252260	0.32093	N	0.006595	T	0.26593	0.0650	N	0.14661	0.345	0.33775	D	0.623584	B;B;B;B;B	0.29988	0.07;0.022;0.264;0.018;0.07	B;B;B;B;B	0.26864	0.018;0.018;0.074;0.006;0.017	T	0.32079	-0.9920	10	0.24483	T	0.36	-24.6921	16.0214	0.80499	0.0:0.0:1.0:0.0	.	373;342;281;337;312	B4DN31;B7Z705;Q9BWS9-3;Q9BWS9-2;Q9BWS9	.;.;.;.;CHID1_HUMAN	V	342;312;337;312;281;337;337;312;216	ENSP00000324821:A342V;ENSP00000391255:A312V;ENSP00000398722:A337V;ENSP00000325055:A312V;ENSP00000416034:A281V;ENSP00000435503:A337V;ENSP00000338838:A337V;ENSP00000388156:A312V	ENSP00000324821:A342V	A	-	2	0	CHID1	873172	0.524000	0.26282	0.474000	0.27266	0.002000	0.02628	2.410000	0.44592	2.313000	0.78055	0.563000	0.77884	GCC		0.622	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		4	144	0	0	0	1	0	4	144					A	883172	G	A	883172	3	1	24	1	0	0	0	0	1	0	0	0	3345	1203	42	2	262	2	CHID1	11	883172	Missense_Mutation	SNP	G	TCGA-BJ-A2N7-01A-11D-A18F-08		883172	134123344	4	538											
ASPSCR1	79058	broad.mit.edu	37	17	79966911	79966925	+	Splice_Site	DEL	AGCCCGTGGACCGGG	AGCCCGTGGACCGGG	-	rs372283666|rs528114039|rs538605448	byFrequency	TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	aabbbea7-bee7-4732-aa63-bbeebc54dcd4	g.chr17:79966911_79966925delAGCCCGTGGACCGGG	ENST00000306739.4	+	8	1030_1043	c.933_946delAGCCCGTGGACCGGG	c.(931-948)cgagcccgtggaccggga>cgga	p.ARGPG312del	ASPSCR1_ENST00000306729.7_Splice_Site_p.ARGPG312del|ASPSCR1_ENST00000580534.1_Splice_Site_p.ARGPG235del	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	312		Breakpoint for translocation to form ASPSCR1-TFE3.			glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	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)			CTCTGCCTCCAGCCCGTGGACCGGGAGCCCGTGGA	0.721			T	TFE3	alveolar soft part sarcoma									25	0.00499201	0.0098	0	5008	,	,		14865	0.0099		0	False		,,,				2504	0.002					uc002kcy.3				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.e8-1		Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.				48,3836		19,10,1913						1.2	0.0			11	25,7549		10,5,3772	no	coding-near-splice	ASPSCR1	NM_024083.2		29,15,5685	A1A1,A1R,RR		0.3301,1.2358,0.6371				73,11385				SO:0001630	splice_region_variant	79058						protein binding	g.chr17:79966911_79966925delAGCCCGTGGACCGGG	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.934-1AGCCCGTGGACCGGG>-	17.37:g.79966911_79966925delAGCCCGTGGACCGGG			Somatic				ASPSCR1_uc002kcx.3_Splice_Site_p.P312_splice|ASPSCR1_uc021ufj.1_Splice_Site_p.P235_splice|ASPSCR1_uc002kda.3_Splice_Site_p.P235_splice|ASPSCR1_uc002kdb.1_Splice_Site_p.P235_splice	p.P312_splice	NM_001251888	NP_001238817	WXS	Illumina GAIIx	Phase_I	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	1031	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		312				Breakpoint for translocation to form ASPSCR1-TFE3.	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Splice_Site	DEL	ENST00000306739.4	37	c.934_splice	CCDS11796.1																																																																																				0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083	In_Frame_Del	4	5						4	5	---	---	---	---	-	79966925	AGCCCGTGGACCGGG	-	79966911	8	5	24	1	0	1	0	1	0	0	1	0	1059	202	7	0	962	0	ASPSCR1	17	79966911	Splice_Site	DEL	AGCCCGTGGACCGGG	TCGA-BJ-A2N7-01A-11D-A18F-08		79966911	1228299	5	539											
DNASE2	1777	broad.mit.edu	37	19	12991827	12991827	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr19:12991827C>T	ENST00000222219.3	-	2	318	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G76S	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	76					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGCTTCGGCCCACGGCCCCC	0.692																																						uc002mvn.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(226-228)Ggc>Agc		Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.							25	27	26					19																	12991827		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding	g.chr19:12991827C>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.226G>A	19.37:g.12991827C>T	ENSP00000222219:p.Gly76Ser		Somatic				DNASE2_uc010xmr.1_Missense_Mutation_p.G76S	p.G76S	NM_001375	NP_001366	WXS	Illumina GAIIx	Phase_I	O00115	DNS2A_HUMAN			1	372	-			76					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.226G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517624	0.85495	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.14516	2.5;2.5	5.37	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	M	0.79343	2.45	0.48511	D	0.999665	D;P	0.89917	1.0;0.943	D;P	0.85130	0.997;0.823	T	0.03641	-1.1017	10	0.28530	T	0.3	.	13.2321	0.59949	0.0:0.839:0.1609:0.0	.	76;76	B7Z4K6;O00115	.;DNS2A_HUMAN	S	76	ENSP00000222219:G76S;ENSP00000445988:G76S	ENSP00000222219:G76S	G	-	1	0	DNASE2	12852827	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.086000	0.50159	2.529000	0.85273	0.561000	0.74099	GGC		0.692	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			25	19	0	0	0	1	0	25	19					T	12991827	C	T	12991827	3	4	24	1	0	0	0	0	1	0	0	0	4664	623	22	2	876	2	DNASE2	19	12991827	Missense_Mutation	SNP	C	TCGA-BJ-A2N7-01A-11D-A18F-08		12991827	46137156	6	540											
ERG	2078	broad.mit.edu	37	21	39795356	39795356	+	Missense_Mutation	SNP	C	C	G	rs528221936		TCGA-BJ-A2N7-01A-11D-A18F-08	TCGA-BJ-A2N7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de442e29-fc8d-43ac-ab0f-2998b2ca7df2	f019b164-6be7-43df-b9db-6191e32ff67f	g.chr21:39795356C>G	ENST00000417133.2	-	5	570	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	ERG_ENST00000288319.7_Missense_Mutation_p.E122Q|ERG_ENST00000398905.1_Missense_Mutation_p.E122Q|ERG_ENST00000398911.1_Missense_Mutation_p.E129Q|ERG_ENST00000453032.2_Missense_Mutation_p.E30Q|ERG_ENST00000398897.1_Missense_Mutation_p.E30Q|ERG_ENST00000442448.1_Missense_Mutation_p.E129Q|ERG_ENST00000429727.2_Missense_Mutation_p.E122Q|ERG_ENST00000398907.1_Missense_Mutation_p.E122Q|ERG_ENST00000398910.1_Missense_Mutation_p.E129Q|ERG_ENST00000398919.2_Missense_Mutation_p.E129Q	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	147	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACTCTGCGCTCGTTCGTGGTC	0.597			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								C|||	1	0.000199681	0	0	5008	,	,		15696	0		0	False		,,,				2504	0.001				Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.3				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(385-387)Gag>Cag		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.							235	152	180					21																	39795356		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39795356C>G		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.385G>C	21.37:g.39795356C>G	ENSP00000414150:p.Glu129Gln		Somatic				ERG_uc021wjd.1_Missense_Mutation_p.E129Q|ERG_uc002yxa.3_Missense_Mutation_p.E122Q|ERG_uc011aek.2_Missense_Mutation_p.E30Q|ERG_uc010gnv.3_Missense_Mutation_p.E30Q|ERG_uc010gnx.3_Missense_Mutation_p.E129Q|ERG_uc011ael.2_Missense_Mutation_p.E129Q|ERG_uc002yxb.3_Missense_Mutation_p.E129Q|ERG_uc011aem.1_Missense_Mutation_p.E122Q|ERG_uc002yxc.4_Missense_Mutation_p.E129Q	p.E129Q	NM_001243428	NP_001230357	WXS	Illumina GAIIx	Phase_I	P11308	ERG_HUMAN			4	680	-		Prostate(19;3.6e-06)	129			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.385G>C	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368390	0.95900	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.05	5.05	0.67936	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	L	0.31926	0.97	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.997;0.992;0.995;0.997;0.986;0.981	T	0.40590	-0.9555	10	0.48119	T	0.1	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	122;129;122;129;129;122	B4E3C5;P11308;B5MDW0;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.;.	Q	122;122;122;30;129;129;129;129;30;129;122	ENSP00000381877:E122Q;ENSP00000381879:E122Q;ENSP00000288319:E122Q;ENSP00000381871:E30Q;ENSP00000381882:E129Q;ENSP00000414150:E129Q;ENSP00000381881:E129Q;ENSP00000394694:E129Q;ENSP00000396268:E30Q;ENSP00000381891:E129Q	ENSP00000288319:E122Q	E	-	1	0	ERG	38717226	1.000000	0.71417	0.987000	0.45799	0.967000	0.64934	7.445000	0.80570	2.503000	0.84419	0.561000	0.74099	GAG		0.597	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		12	23	0	0	0	1	0	12	23					G	39795356	C	G	39795356	3	3	24	1	0	0	0	0	1	0	0	0	5222	893	31	4	1107	4	ERG	21	39795356	Missense_Mutation	SNP	C	TCGA-BJ-A2N7-01A-11D-A18F-08		39795356	8334539	7	541											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		60	109	0	0	0	1	0	60	109					C	115256529	T	C	115256529	3	2	25	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		115256529	133994092	1	542											
CFHR5	81494	broad.mit.edu	37	1	196964999	196964999	+	Nonsense_Mutation	SNP	G	G	T	rs201472916		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:196964999G>T	ENST00000256785.4	+	5	869	c.760G>T	c.(760-762)Gga>Tga	p.G254*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.G278*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGGATGGAGAATGGAC	0.308																																						uc001gts.4																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(760-762)Gga>Tga		Homo sapiens complement factor H-related 5 (CFHR5), mRNA.							88	96	93					1																	196964999		2203	4300	6503	SO:0001587	stop_gained	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964999G>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.760G>T	1.37:g.196964999G>T	ENSP00000256785:p.Gly254*		Somatic					p.G254*	NM_030787	NP_110414	WXS	Illumina GAIIx	Phase_I	Q9BXR6	FHR5_HUMAN			4	888	+			254			Sushi 4.		Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	c.760G>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433947	0.62955	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.838	0.46698	0.0:0.0:1.0:0.0	.	.	.	.	X	278;254	.	ENSP00000256785:G254X	G	+	1	0	CFHR5	195231622	1.000000	0.71417	0.435000	0.26784	0.052000	0.14988	3.147000	0.50639	1.670000	0.50864	0.544000	0.68410	GGA		0.308	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		4	37	0	0	0	1	0	4	37					T	196964999	G	T	196964999	4	4	25	1	0	0	0	0	0	1	0	0	3288	1349	47	4	778	4	CFHR5	1	196964999	Nonsense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	81708470	196964999	52285622	2	543											
ADCY3	109	broad.mit.edu	37	2	25061434	25061434	+	Missense_Mutation	SNP	C	C	A	rs577337871		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:25061434C>A	ENST00000260600.5	-	7	2264	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	ADCY3_ENST00000405392.1_Missense_Mutation_p.E104D	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	471					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCGCCTGGCTCCACATCAA	0.577																																						uc010ykm.2																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1411-1413)gaG>gaT		Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.							152	150	151					2																	25061434		2203	4300	6503	SO:0001583	missense	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061434C>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1413G>T	2.37:g.25061434C>A	ENSP00000260600:p.Glu471Asp		Somatic				ADCY3_uc002rfr.4_Missense_Mutation_p.E104D|ADCY3_uc002rfs.4_Missense_Mutation_p.E471D	p.E471D	NM_004036	NP_004027	WXS	Illumina GAIIx	Phase_I	O60266	ADCY3_HUMAN			6	1612	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		471					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1413G>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526425	0.44969	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;D;T;T;T	0.88741	-1.48;-2.42;-1.48;-1.48;-1.48	5.3	3.46	0.39613	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.82132	2.575	0.39024	D	0.959798	D;D;D	0.89917	0.992;0.992;1.0	D;D;D	0.91635	0.994;0.994;0.999	D	0.93431	0.6785	10	0.87932	D	0	.	11.944	0.52918	0.0:0.7902:0.0:0.2098	.	471;471;104	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	D	471;104;446;97;227;421	ENSP00000260600:E471D;ENSP00000384484:E104D;ENSP00000410120:E97D;ENSP00000399275:E227D;ENSP00000389799:E421D	ENSP00000260600:E471D	E	-	3	2	ADCY3	24914938	1.000000	0.71417	0.993000	0.49108	0.215000	0.24574	2.058000	0.41374	0.214000	0.20742	-0.797000	0.03246	GAG		0.577	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			5	149	0	0	0	1	0	5	149					A	25061434	C	A	25061434	3	1	25	1	0	0	0	0	1	0	0	0	295	796	28	4	2081	4	ADCY3	2	25061434	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		25061434	218137939	3	544											
SCN9A	6335	broad.mit.edu	37	2	167142878	167142878	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:167142878C>T	ENST00000409435.1	-	10	1569	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A525T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A525T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	524					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)	TTTTCATGTGCTCGCCTATGC	0.443																																						uc010fpl.3																			0		p.R523L(1)		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.(1570-1572)Gca>Aca		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						257	241	246					2																	167142878		1929	4137	6066	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142878C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1570G>A	2.37:g.167142878C>T	ENSP00000386330:p.Ala524Thr		Somatic				BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.A395T|SCN9A_uc002uds.1_Missense_Mutation_p.A395T|SCN9A_uc002udt.1_Missense_Mutation_p.A395T	p.A524T	NM_002977	NP_002968	WXS	Illumina GAIIx	Phase_I	Q15858	SCN9A_HUMAN			10	1911	-			524					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1570G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.698242	0.00725	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.76	1.79	0.24919	Domain of unknown function DUF3451 (1);	2.855450	0.01030	N	0.004121	T	0.69646	0.3134	N	0.00966	-1.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.69083	-0.5239	10	0.02654	T	1	.	7.7958	0.29146	0.0:0.5993:0.1067:0.294	.	524;524;525	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	524;525;525;524;389;389	ENSP00000386306:A524T;ENSP00000364536:A525T;ENSP00000304748:A525T;ENSP00000386330:A524T;ENSP00000413212:A389T;ENSP00000393141:A389T	ENSP00000304748:A525T	A	-	1	0	SCN9A	166851124	0.000000	0.05858	0.105000	0.21289	0.085000	0.17905	-0.500000	0.06405	0.317000	0.23160	0.585000	0.79938	GCA		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		12	263	0	0	0	1	0	12	263					T	167142878	C	T	167142878	3	4	25	1	0	0	0	0	1	0	0	0	13925	797	28	2	4431	2	SCN9A	2	167142878	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08	142081444	167142878	76056495	4	545											
LASS6	253782	broad.mit.edu	37	2	169547576	169547576	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:169547576G>C	ENST00000305747.6	+	5	1085	c.498G>C	c.(496-498)tgG>tgC	p.W166C	CERS6_ENST00000392687.4_Missense_Mutation_p.W166C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	166	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCATTGCTGGTACAACTACC	0.388																																						uc002uec.1																			0											c.(496-498)tgG>tgC		Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.							155	157	156					2																	169547576		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169547576G>C	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.498G>C	2.37:g.169547576G>C	ENSP00000306579:p.Trp166Cys		Somatic				CERS6_uc002ueb.1_Missense_Mutation_p.W166C	p.W166C	NM_203463	NP_982288	WXS	Illumina GAIIx	Phase_I	Q6ZMG9	CERS6_HUMAN			4	622	+			166			TLC.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.498G>C	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063957	0.76187	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.86366	-2.11;-2.11	5.94	5.94	0.96194	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96728	0.9537	10	0.87932	D	0	-34.7055	19.1451	0.93461	0.0:0.0:1.0:0.0	.	166;166	Q32M63;Q6ZMG9	.;CERS6_HUMAN	C	166	ENSP00000306579:W166C;ENSP00000376453:W166C	ENSP00000306579:W166C	W	+	3	0	CERS6	169255822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.139000	0.89615	2.820000	0.97059	0.650000	0.86243	TGG		0.388	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		3	96	0	0	0	1	0	3	96					C	169547576	G	C	169547576	3	2	25	1	0	0	0	0	1	0	0	0	8643	1270	44	4	516	4	LASS6	2	169547576	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	2404698	169547576	73651797	5	546											
FKBPL	63943	broad.mit.edu	37	6	32096729	32096729	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr6:32096729G>C	ENST00000375156.3	-	2	1099	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	277					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										TCCAACACCCGGTCACAGCTC	0.592																																						uc003nzr.3																			0											c.(829-831)Cgg>Ggg		Homo sapiens FK506 binding protein like (FKBPL), mRNA.							53	58	56					6																	32096729		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096729G>C	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"Tetratricopeptide (TTC) repeat domain containing"	13949	protein-coding gene	gene with protein product	"WAF-1/CIP1 stabilizing protein 39"		"FK506-binding protein like"			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.829C>G	6.37:g.32096729G>C	ENSP00000364298:p.Arg277Gly		Somatic				ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R277G	p.R277G	NM_022110	NP_071393	WXS	Illumina GAIIx	Phase_I	Q9UIM3	FKBPL_HUMAN			1	1099	-			277					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.829C>G	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010601	0.75046	.	.	ENSG00000204315	ENST00000375156	T	0.61040	0.14	5.87	4.02	0.46733	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181999	0.34986	N	0.003532	T	0.64068	0.2565	M	0.75615	2.305	0.36303	D	0.857161	D	0.63880	0.993	D	0.64687	0.928	T	0.69172	-0.5215	10	0.51188	T	0.08	-12.5954	12.9986	0.58662	0.0:0.0:0.677:0.3229	.	277	Q9UIM3	FKBPL_HUMAN	G	277	ENSP00000364298:R277G	ENSP00000364298:R277G	R	-	1	2	FKBPL	32204707	0.984000	0.35163	0.999000	0.59377	0.993000	0.82548	0.971000	0.29396	0.749000	0.32854	0.561000	0.74099	CGG		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			9	83	0	0	0	1	0	9	83					C	32096729	G	C	32096729	3	2	25	1	0	0	0	0	1	0	0	0	5916	1115	39	4	224	4	FKBPL	6	32096729	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08		32096729	139018338	6	547											
ZNF804B	219578	broad.mit.edu	37	7	88965206	88965206	+	Silent	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr7:88965206A>G	ENST00000333190.4	+	4	3519	c.2910A>G	c.(2908-2910)tcA>tcG	p.S970S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	970							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCACCATCAGGCTGTAACA	0.408										HNSCC(36;0.09)																												uc011khi.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2908-2910)tcA>tcG		Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.							111	111	111					7																	88965206		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88965206A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2910A>G	7.37:g.88965206A>G		HNSCC(36;0.09)	Somatic					p.S970S	NM_181646	NP_857597	WXS	Illumina GAIIx	Phase_I	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	3448	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		970					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2910A>G	CCDS5613.1																																																																																				0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		3	98	0	0	0	1	0	3	98					G	88965206	A	G	88965206	2	3	25	1	0	0	0	0	0	0	0	1	18168	175	7	3		3	ZNF804B	7	88965206	Silent	SNP	A	TCGA-BJ-A2N8-01A-11D-A18F-08		88965206	70173457	7	548											
RET	5979	broad.mit.edu	37	10	43607566	43607566	+	Silent	SNP	C	C	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr10:43607566C>A	ENST00000355710.3	+	8	1774	c.1542C>A	c.(1540-1542)ggC>ggA	p.G514G	RET_ENST00000340058.5_Silent_p.G514G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	514					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)	AGGAGGCGGGCTGCCCCCTGT	0.662		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)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0		p.A513G(1)		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.(1540-1542)ggC>ggA		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)						61	57	58					10																	43607566		2202	4297	6499	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	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.chr10:43607566C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1542C>A	10.37:g.43607566C>A			Somatic				RET_uc001jak.1_Silent_p.G514G|RET_uc010qez.1_Silent_p.G260G	p.G514G	NM_020975	NP_066124	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			7	1732	+		Ovarian(717;0.0423)	514					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1542C>A	CCDS7200.1																																																																																				0.662	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		3	6	0	0	0	1	0	3	6					A	43607566	C	A	43607566	2	1	25	1	0	0	0	0	0	0	0	1	13235	784	28	4		4	RET	10	43607566	Silent	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		43607566	91927181	8	549											
WNT5B	81029	broad.mit.edu	37	12	1741882	1741882	+	Missense_Mutation	SNP	G	G	A	rs138238149		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr12:1741882G>A	ENST00000397196.2	+	3	371	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M|WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M|WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	47					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCCCAGCCCGTGTGCAGTCA	0.567																																						uc009zdq.3																			0				skin(1)	1						c.(139-141)Gtg>Atg		Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.							102	106	105					12																	1741882		2203	4300	6503	SO:0001583	missense	81029				Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1741882G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.139G>A	12.37:g.1741882G>A	ENSP00000380379:p.Val47Met		Somatic				WNT5B_uc001qjj.3_Missense_Mutation_p.V47M|WNT5B_uc001qjk.3_Missense_Mutation_p.V47M|WNT5B_uc001qjl.3_Missense_Mutation_p.V47M	p.V47M	NM_032642	NP_116031	WXS	Illumina GAIIx	Phase_I	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		2	381	+	Ovarian(42;0.107)		47					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.139G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693665	0.48202	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.3	5.3	0.74995	.	0.240720	0.34750	N	0.003712	T	0.51601	0.1684	N	0.04655	-0.195	0.47659	D	0.999489	B	0.26577	0.153	B	0.26770	0.073	T	0.52525	-0.8564	10	0.10902	T	0.67	.	14.5596	0.68126	0.0:0.146:0.854:0.0	.	47	Q9H1J7	WNT5B_HUMAN	M	47	ENSP00000438414:V47M;ENSP00000445395:V47M;ENSP00000439312:V47M;ENSP00000308887:V47M;ENSP00000380379:V47M;ENSP00000442348:V47M;ENSP00000440600:V47M	ENSP00000308887:V47M	V	+	1	0	WNT5B	1612143	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.380000	0.52448	2.475000	0.83589	0.557000	0.71058	GTG		0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			19	120	0	0	0	1	0	19	120					A	1741882	G	A	1741882	3	1	25	1	0	0	0	0	1	0	0	0	17389	1145	40	1	145	1	WNT5B	12	1741882	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08		1741882	132110013	9	550											
GTF2F2	2963	broad.mit.edu	37	13	45725876	45725876	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr13:45725876C>T	ENST00000340473.6	+	4	355	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	72					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGTGGAAAACCAGCTTCAGT	0.378																																						uc001uzw.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(214-216)Cca>Tca		Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA.							166	157	160					13																	45725876		2203	4300	6503	SO:0001583	missense	2963				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	g.chr13:45725876C>T	X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"General transcription factors"	4653	protein-coding gene	gene with protein product		189969	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.214C>T	13.37:g.45725876C>T	ENSP00000340823:p.Pro72Ser		Somatic					p.P72S	NM_004128	NP_004119	WXS	Illumina GAIIx	Phase_I	P13984	T2FB_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)	3	374	+		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	72					A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	c.214C>T	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052999	0.36181	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.88	5.88	0.94601	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.113026	0.64402	D	0.000009	T	0.59088	0.2168	L	0.61036	1.89	0.51233	D	0.999913	B	0.06786	0.001	B	0.06405	0.002	T	0.54768	-0.8244	9	0.41790	T	0.15	-9.7873	12.5139	0.56021	0.0:0.9246:0.0:0.0754	.	72	P13984	T2FB_HUMAN	S	72	.	ENSP00000340823:P72S	P	+	1	0	GTF2F2	44623876	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.149000	0.42244	2.769000	0.95229	0.655000	0.94253	CCA		0.378	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		4	82	0	0	0	1	0	4	82					T	45725876	C	T	45725876	3	4	25	1	0	0	0	0	1	0	0	0	6859	507	18	2	228	2	GTF2F2	13	45725876	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		45725876	69444002	10	551											
OR4N4	283694	broad.mit.edu	37	15	22383218	22383218	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr15:22383218T>C	ENST00000328795.4	+	1	837	c.746T>C	c.(745-747)cTt>cCt	p.L249P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	249						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		ATTATACTTCTTATGTTTGGA	0.468																																						uc001yuc.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(745-747)cTt>cCt		Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.							232	203	213					15																	22383218		2192	4263	6455	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383218T>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.746T>C	15.37:g.22383218T>C	ENSP00000332500:p.Leu249Pro		Somatic				abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.L249P	p.L249P	NM_001005241	NP_001005241	WXS	Illumina GAIIx	Phase_I	Q8N0Y3	OR4N4_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)	6	1727	+		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)	249					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.746T>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.286599	0.23478	.	.	ENSG00000183706	ENST00000328795	T	0.00302	8.2	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.175058	0.27549	N	0.018868	T	0.01124	0.0037	H	0.98370	4.215	0.38917	D	0.957663	D	0.76494	0.999	D	0.76575	0.988	T	0.18429	-1.0337	10	0.87932	D	0	-8.8255	9.7407	0.40416	0.0:0.0:0.0:1.0	.	249	Q8N0Y3	OR4N4_HUMAN	P	249	ENSP00000332500:L249P	ENSP00000332500:L249P	L	+	2	0	OR4N4	19884582	0.175000	0.23083	0.973000	0.42090	0.018000	0.09664	3.334000	0.52097	1.454000	0.47793	0.332000	0.21555	CTT		0.468	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			4	209	0	0	0	1	0	4	209					C	22383218	T	C	22383218	3	2	25	1	0	0	0	0	1	0	0	0	11078	1609	56	3	748	3	OR4N4	15	22383218	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		22383218	80148174	11	552											
THOC1	9984	broad.mit.edu	37	18	246403	246403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:246403T>C	ENST00000261600.6	-	11	846	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	280					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTGAGGCCTGAGTATCATC	0.269																																						uc002kkj.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(838-840)cAg>cGg		Homo sapiens THO complex 1 (THOC1), mRNA.							46	47	46					18																	246403		1786	4048	5834	SO:0001583	missense	9984				RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	g.chr18:246403T>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.839A>G	18.37:g.246403T>C	ENSP00000261600:p.Gln280Arg		Somatic				THOC1_uc002kkl.2_Missense_Mutation_p.Q280R	p.Q280R	NM_005131	NP_005122	WXS	Illumina GAIIx	Phase_I	Q96FV9	THOC1_HUMAN			10	879	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	280					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.839A>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253312	0.22965	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	N	0.13235	0.315	0.58432	D	0.999999	B;D	0.57571	0.2;0.98	B;P	0.55577	0.069;0.779	T	0.38222	-0.9671	9	0.05620	T	0.96	-10.0384	16.1668	0.81768	0.0:0.0:0.0:1.0	.	280;280	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	R	280	.	ENSP00000261600:Q280R	Q	-	2	0	THOC1	236403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.210000	0.71456	0.533000	0.62120	CAG		0.269	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		3	61	0	0	0	1	0	3	61					C	246403	T	C	246403	3	2	25	1	0	0	0	0	1	0	0	0	15861	1580	55	3	1178	3	THOC1	18	246403	Missense_Mutation	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08		246403	77830845	12	553											
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:63477091G>A	ENST00000397968.2	+	3	788	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CDH7_ENST00000536984.2_Missense_Mutation_p.R121Q|CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R121L(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493																																						uc002ljz.3																			2	Substitution - Missense(2)	p.R121L(3)|p.R121*(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(361-363)cGa>cAa		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA.							71	67	69					18																	63477091		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.chr18:63477091G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.362G>A	18.37:g.63477091G>A	ENSP00000381058:p.Arg121Gln		Somatic				CDH7_uc002lka.3_Missense_Mutation_p.R121Q|CDH7_uc002lkb.3_Missense_Mutation_p.R121Q	p.R121Q	NM_033646	NP_387450	WXS	Illumina GAIIx	Phase_I	Q9ULB5	CADH7_HUMAN			2	687	+		Esophageal squamous(42;0.129)	121			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.362G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501863	0.64298	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50548	0.74;0.74;0.74	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.152719	0.45361	D	0.000373	T	0.39306	0.1073	L	0.45285	1.41	0.58432	D	0.999994	P;P	0.45428	0.858;0.467	B;B	0.29716	0.106;0.023	T	0.43621	-0.9380	10	0.52906	T	0.07	.	20.1416	0.98058	0.0:0.0:1.0:0.0	.	121;121	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	121	ENSP00000319166:R121Q;ENSP00000443030:R121Q;ENSP00000381058:R121Q	ENSP00000319166:R121Q	R	+	2	0	CDH7	61628071	0.998000	0.40836	0.290000	0.24890	0.879000	0.50718	4.835000	0.62781	2.767000	0.95098	0.650000	0.86243	CGA		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		7	55	0	0	0	1	0	7	55					A	63477091	G	A	63477091	3	1	25	1	0	0	0	0	1	0	0	0	3115	1058	37	1	368	1	CDH7	18	63477091	Missense_Mutation	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	63230688	63477091	14600157	13	554											
FKRP	79147	broad.mit.edu	37	19	47259967	47259967	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr19:47259967C>G	ENST00000318584.5	+	4	1557	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	420					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGGCCCTTCTACCCCCGCA	0.627																																						uc002pfn.2																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1258-1260)ttC>ttG		Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.							89	50	64					19																	47259967		2203	4300	6503	SO:0001583	missense	79147					Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259967C>G	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1260C>G	19.37:g.47259967C>G	ENSP00000326570:p.Phe420Leu		Somatic				FKRP_uc002pfp.2_Missense_Mutation_p.F420L|FKRP_uc021uwj.1_Missense_Mutation_p.F420L	p.F420L	NM_024301	NP_077277	WXS	Illumina GAIIx	Phase_I	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	3	1557	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	420					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.1260C>G	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763224	0.69763	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99637	-6.29;-6.29	5.15	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.62723	1.935	0.53005	D	0.999967	D	0.63880	0.993	D	0.72625	0.978	D	0.98725	1.0710	10	0.54805	T	0.06	-16.9604	13.0076	0.58715	0.0:0.9188:0.0:0.0812	.	420	Q9H9S5	FKRP_HUMAN	L	420	ENSP00000375776:F420L;ENSP00000326570:F420L	ENSP00000326570:F420L	F	+	3	2	FKRP	51951807	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.954000	0.49113	1.148000	0.42385	0.305000	0.20034	TTC		0.627	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		2	13	0	0	0	1	0	2	13					G	47259967	C	G	47259967	3	3	25	1	0	0	0	0	1	0	0	0	5917	912	32	4	1262	4	FKRP	19	47259967	Missense_Mutation	SNP	C	TCGA-BJ-A2N8-01A-11D-A18F-08		47259967	11869016	14	555											
LPAR4	2846	broad.mit.edu	37	X	78010703	78010703	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:78010703A>G	ENST00000435339.3	+	2	723	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	113					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)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTGCAAGATCTCTGGAAC	0.428																																						uc010nme.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(337-339)Atc>Gtc		Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.							170	140	150					X																	78010703		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010703A>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.337A>G	X.37:g.78010703A>G	ENSP00000408205:p.Ile113Val		Somatic				LPAR4_uc022bzj.1_Missense_Mutation_p.I113V	p.I113V	NM_005296	NP_005287	WXS	Illumina GAIIx	Phase_I	Q99677	LPAR4_HUMAN			1	742	+			113					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.337A>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	6.541	0.468165	0.12461	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37411	1.2;1.2	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.079753	0.52532	D	0.000072	T	0.27134	0.0665	L	0.28504	0.86	0.40862	D	0.983846	B	0.13594	0.008	B	0.20577	0.03	T	0.07927	-1.0747	10	0.39692	T	0.17	.	11.3846	0.49778	1.0:0.0:0.0:0.0	.	113	Q99677	LPAR4_HUMAN	V	113	ENSP00000408205:I113V;ENSP00000362398:I113V	ENSP00000362398:I113V	I	+	1	0	LPAR4	77897359	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.576000	0.60915	1.561000	0.49584	0.345000	0.21793	ATC		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		4	148	0	0	0	1	0	4	148					G	78010703	A	G	78010703	3	3	25	1	0	0	0	0	1	0	0	0	8907	333	12	3	339	3	LPAR4	23	78010703	Missense_Mutation	SNP	A	TCGA-BJ-A2N8-01A-11D-A18F-08		78010703	77259857	15	556											
NGFRAP1	27018	broad.mit.edu	37	X	102632596	102632596	+	Silent	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:102632596G>C	ENST00000372645.3	+	3	504	c.177G>C	c.(175-177)ggG>ggC	p.G59G	NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000361298.4_Silent_p.G49G|NGFRAP1_ENST00000372635.1_Silent_p.G59G|NGFRAP1_ENST00000372634.1_Silent_p.G49G			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)	p.G59A(1)|p.G59G(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCAATGATGGGATGGGTGGAG	0.502																																						uc004eki.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G59A(3)|p.G59G(2)	lung(2)	NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(175-177)ggG>ggC		Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.							191	181	184					X																	102632596		2203	4300	6503	SO:0001819	synonymous_variant	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632596G>C	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"brain expressed, X-linked 3"	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.177G>C	X.37:g.102632596G>C			Somatic				NGFRAP1_uc004ekh.3_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G	p.G59G	NM_206915	NP_996800	WXS	Illumina GAIIx	Phase_I	Q00994	BEX3_HUMAN			2	559	+			59					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Silent	SNP	ENST00000372645.3	37	c.177G>C	CCDS14508.1																																																																																				0.502	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		10	243	0	0	0	1	0	10	243					C	102632596	G	C	102632596	2	2	25	1	0	0	0	0	0	0	0	1	10397	1161	41	4		4	NGFRAP1	23	102632596	Silent	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	24621893	102632596	52637964	16	557											
KLHL13	90293	broad.mit.edu	37	X	117053625	117053625	+	Silent	SNP	G	G	A	rs75572880		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117053625G>A	ENST00000262820.3	-	4	1338	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000371882.1_Silent_p.V92V|KLHL13_ENST00000371876.1_Silent_p.V92V|KLHL13_ENST00000469946.1_Silent_p.V92V|KLHL13_ENST00000545703.1_Silent_p.V101V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	143	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTTAGACCGACTTTGCTCA	0.343																																						uc011mtp.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(436-438)gtC>gtT		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.							67	68	67					X																	117053625		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117053625G>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.429C>T	X.37:g.117053625G>A			Somatic				KLHL13_uc004eqk.3_Silent_p.V92V|KLHL13_uc004eql.3_Silent_p.V143V|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Silent_p.V137V|KLHL13_uc011mtq.2_Silent_p.V127V|KLHL13_uc004eqm.3_Silent_p.V101V|KLHL13_uc022cde.1_Silent_p.V127V	p.V146V	NM_001168299	NP_001161775	WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			4	571	-			143			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.438C>T	CCDS14571.1																																																																																				0.343	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		4	78	0	0	0	1	0	4	78					A	117053625	G	A	117053625	2	1	25	1	0	0	0	0	0	0	0	1	8369	1045	37	1		1	KLHL13	23	117053625	Silent	SNP	G	TCGA-BJ-A2N8-01A-11D-A18F-08	14421029	117053625	38216935	17	558											
DOCK11	139818	broad.mit.edu	37	X	117815662	117815662	+	Silent	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117815662T>C	ENST00000276202.7	+	51	5931	c.5868T>C	c.(5866-5868)aaT>aaC	p.N1956N	DOCK11_ENST00000276204.6_Silent_p.N1956N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1956	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGGTCAATGCTGGTCCAT	0.338																																						uc004eqp.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5866-5868)aaT>aaC		Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.							136	124	128					X																	117815662		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117815662T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5868T>C	X.37:g.117815662T>C			Somatic				DOCK11_uc004eqq.2_Silent_p.N1735N	p.N1956N	NM_144658	NP_653259	WXS	Illumina GAIIx	Phase_I	Q5JSL3	DOC11_HUMAN			50	5931	+			1956			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.5868T>C	CCDS35373.1																																																																																				0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		21	106	0	0	0	1	0	21	106					C	117815662	T	C	117815662	2	2	25	1	0	0	0	0	0	0	0	1	4686	1461	51	3		3	DOCK11	23	117815662	Silent	SNP	T	TCGA-BJ-A2N8-01A-11D-A18F-08	762037	117815662	37454898	18	559											
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	rs374126308		TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:160607074G>A	ENST00000302035.6	-	2	671	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	108	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468																																						uc001fwl.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(322-324)Cgg>Tgg		Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.		G	TRP/ARG	0,4406		0,0,2203	127	123	124		322	1.2	0.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	108/336	160607074	1,13005	2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607074G>A	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.322C>T	1.37:g.160607074G>A	ENSP00000306190:p.Arg108Trp		Somatic				SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	p.R108W	NM_003037	NP_003028	WXS	Illumina GAIIx	Phase_I	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	668	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		108					Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.322C>T	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317495	0.23908	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.19	1.19	0.21007	Signaling lymphocytic activation molecule, N-terminal (2);	1.152020	0.06391	N	0.717075	T	0.23846	0.0577	N	0.22421	0.69	0.09310	N	1	D;D	0.71674	0.994;0.998	P;P	0.51615	0.675;0.615	T	0.11916	-1.0568	10	0.52906	T	0.07	-0.043	5.5763	0.17225	0.3728:0.0:0.6272:0.0	.	108;108	B4E2E4;Q13291	.;SLAF1_HUMAN	W	108	ENSP00000306190:R108W;ENSP00000235739:R108W;ENSP00000438406:R108W;ENSP00000347333:R108W	ENSP00000235739:R108W	R	-	1	2	SLAMF1	158873698	0.882000	0.30256	0.004000	0.12327	0.023000	0.10783	1.244000	0.32778	0.270000	0.21984	0.491000	0.48974	CGG		0.468	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			4	72	0	0	0	1	0	4	72					A	160607074	G	A	160607074	3	1	26	1	0	0	0	0	1	0	0	0	14367	1144	40	1	709	1	SLAMF1	1	160607074	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		160607074	88643547	1	560											
RFWD2	64326	broad.mit.edu	37	1	176054931	176054931	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr1:176054931T>C	ENST00000367669.3	-	10	1636	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	RFWD2_ENST00000308769.8_Silent_p.T350T	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	374					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGACATCCTTGTAGAAAAGT	0.348																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1																			0		p.T374I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1120-1122)acA>acG		Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.							103	94	97					1																	176054931		2203	4300	6503	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176054931T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1122A>G	1.37:g.176054931T>C			Somatic				RFWD2_uc001gkv.1_Silent_p.T350T|RFWD2_uc001gkw.1_Silent_p.T134T|RFWD2_uc009wwv.2_Silent_p.T173T|RFWD2_uc001gkt.1_Silent_p.T213T	p.T374T	NM_022457	NP_071902	WXS	Illumina GAIIx	Phase_I	Q8NHY2	RFWD2_HUMAN			9	1378	-			374					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.1122A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	8.957	0.969702	0.18659	.	.	ENSG00000143207	ENST00000459744	.	.	.	5.28	4.15	0.48705	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51934	-0.8642	4	.	.	.	-9.6619	6.8308	0.23909	0.0:0.0816:0.152:0.7663	.	.	.	.	R	94	.	.	Q	-	2	0	RFWD2	174321554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.198000	0.51035	0.956000	0.37904	0.383000	0.25322	CAA		0.348	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		3	86	0	0	0	1	0	3	86					C	176054931	T	C	176054931	2	2	26	1	0	0	0	0	0	0	0	1	13260	1799	63	3		3	RFWD2	1	176054931	Silent	SNP	T	TCGA-BJ-A2N9-01A-11D-A18F-08	15447857	176054931	73195690	2	561											
SPOCK3	50859	broad.mit.edu	37	4	167810357	167810357	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr4:167810357C>A	ENST00000357154.3	-	7	659	c.522G>T	c.(520-522)caG>caT	p.Q174H	SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	174	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACTGAGATCTGTTTTCCTA	0.328																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(547-549)caG>caT		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							128	121	123					4																	167810357		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167810357C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.522G>T	4.37:g.167810357C>A	ENSP00000349677:p.Gln174His		Somatic				SPOCK3_uc021xuf.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjr.1_Missense_Mutation_p.Q54H|SPOCK3_uc003iri.1_Missense_Mutation_p.Q174H|SPOCK3_uc011cjs.1_Missense_Mutation_p.Q123H|SPOCK3_uc003irj.1_Missense_Mutation_p.Q171H|SPOCK3_uc011cjt.1_Missense_Mutation_p.Q82H|SPOCK3_uc011cjp.2_Missense_Mutation_p.Q171H|SPOCK3_uc011cju.1_Missense_Mutation_p.Q78H|SPOCK3_uc011cjv.1_Missense_Mutation_p.Q76H|SPOCK3_uc003irk.4_Missense_Mutation_p.Q171H|SPOCK3_uc011cjw.1_Non-coding_Transcript	p.Q183H	NM_001204353	NP_001191282	WXS	Illumina GAIIx	Phase_I	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	4	606	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	174			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.549G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096084	0.36952	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44881	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;0.91;3.58;3.58;3.58;0.91;3.58;3.58	5.17	3.35	0.38373	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.198219	0.44688	N	0.000421	T	0.50429	0.1615	L	0.45422	1.42	0.41111	D	0.985743	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.997;0.999;0.998;0.998;0.998;0.998	P;D;D;D;D;D;D;D	0.85130	0.897;0.969;0.968;0.997;0.996;0.969;0.994;0.996	T	0.44711	-0.9310	10	0.45353	T	0.12	-14.5186	6.7286	0.23371	0.1413:0.6877:0.0:0.171	.	76;78;123;183;171;174;171;174	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	H	174;171;171;174;174;174;171;54;76;171;82;123;76;78;171	ENSP00000349677:Q174H;ENSP00000350153:Q171H;ENSP00000425570:Q171H;ENSP00000420920:Q174H;ENSP00000423421:Q174H;ENSP00000423606:Q174H;ENSP00000426716:Q171H;ENSP00000444789:Q54H;ENSP00000426318:Q76H;ENSP00000425502:Q171H;ENSP00000441396:Q82H;ENSP00000411344:Q123H;ENSP00000445430:Q76H;ENSP00000438142:Q78H;ENSP00000426177:Q171H	ENSP00000349677:Q174H	Q	-	3	2	SPOCK3	168046932	1.000000	0.71417	0.798000	0.32154	0.237000	0.25408	0.795000	0.26972	0.599000	0.29845	0.650000	0.86243	CAG		0.328	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			22	33	0	0	0	1	0	22	33					A	167810357	C	A	167810357	3	1	26	1	0	0	0	0	1	0	0	0	15080	912	32	4	812	4	SPOCK3	4	167810357	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		167810357	23343919	3	562											
FILIP1	27145	broad.mit.edu	37	6	76022780	76022780	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr6:76022780G>A	ENST00000237172.7	-	5	3098	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	FILIP1_ENST00000393004.2_Missense_Mutation_p.A923V|FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	923										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCCAAAGTCGCAGTGCTGTT	0.473																																						uc010kbe.3																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2776-2778)gCg>gTg		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							145	139	141					6																	76022780		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022780G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2768C>T	6.37:g.76022780G>A	ENSP00000237172:p.Ala923Val		Somatic				FILIP1_uc003phy.1_Missense_Mutation_p.A923V|FILIP1_uc003phz.3_Missense_Mutation_p.A824V|FILIP1_uc003pia.3_Missense_Mutation_p.A923V|FILIP1_uc003pib.1_Missense_Mutation_p.A675V	p.A926V	NM_015687	NP_056502	WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	3307	-			923					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2777C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802427	0.90538	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.25414	1.81;1.8;1.81	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.995;0.998	T	0.31668	-0.9935	10	0.66056	D	0.02	-21.1339	20.2723	0.98479	0.0:0.0:1.0:0.0	.	923;923;923	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	V	923;923;824	ENSP00000376728:A923V;ENSP00000237172:A923V;ENSP00000359037:A824V	ENSP00000237172:A923V	A	-	2	0	FILIP1	76079500	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	7.874000	0.87199	2.793000	0.96121	0.563000	0.77884	GCG		0.473	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		24	76	0	0	0	1	0	24	76					A	76022780	G	A	76022780	3	1	26	1	0	0	0	0	1	0	0	0	5894	1087	38	1	881	1	FILIP1	6	76022780	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		76022780	95092287	4	563											
UBR5	51366	broad.mit.edu	37	8	103297922	103297922	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr8:103297922G>A	ENST00000520539.1	-	39	5909	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1768	Poly-Ala.				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)			AGCTTCCAAAGCAGCTGCTGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.2																			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.(5302-5304)gCt>gTt		Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.							72	68	70					8																	103297922		2203	4300	6503	SO:0001583	missense	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	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297922G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5303C>T	8.37:g.103297922G>A	ENSP00000429084:p.Ala1768Val		Somatic				UBR5_uc003yks.2_Missense_Mutation_p.A1768V	p.A1768V	NM_015902	NP_056986	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5758	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1768			Poly-Ala.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5303C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174184	0.78452	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47869	0.83;0.83;0.83	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	N	0.22421	0.69	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.52726	-0.8537	10	0.33940	T	0.23	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1762;1768	E7EMW7;O95071	.;UBR5_HUMAN	V	1768;1768;1762	ENSP00000429084:A1768V;ENSP00000220959:A1768V;ENSP00000427819:A1762V	ENSP00000220959:A1768V	A	-	2	0	UBR5	103367098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	GCT		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	49	0	0	0	1	0	10	49					A	103297922	G	A	103297922	3	1	26	1	0	0	0	0	1	0	0	0	16902	971	34	2	3180	2	UBR5	8	103297922	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		103297922	43066100	5	564											
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr9:8499764G>A	ENST00000381196.4	-	22	2748	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.P735P(1)		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)		TATTGGGCACGGGTGAGCGCC	0.483										TSP Lung(15;0.13)																												uc003zkk.3																			1	Substitution - coding silent(1)	p.P735P(1)	lung(1)	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.(2203-2205)ccC>ccT		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							172	150	157					9																	8499764		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.chr9:8499764G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2205C>T	9.37:g.8499764G>A		TSP Lung(15;0.13)	Somatic				PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	p.P735P	NM_002839	NP_002830	WXS	Illumina GAIIx	Phase_I	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)	24	2948	-		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)	735			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2205C>T	CCDS43786.1																																																																																				0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	89	0	0	0	1	0	3	89					A	8499764	G	A	8499764	2	1	26	1	0	0	0	0	0	0	0	1	12799	1103	39	1		1	PTPRD	9	8499764	Silent	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		8499764	132713667	6	565											
IDE	3416	broad.mit.edu	37	10	94214212	94214212	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr10:94214212C>T	ENST00000265986.6	-	25	3105	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.A462T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1017					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	CAGAGTTTTGCAGCCATGAAG	0.433																																						uc001kia.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(3049-3051)Gca>Aca		Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151	151	151					10																	94214212		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214212C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.3049G>A	10.37:g.94214212C>T	ENSP00000265986:p.Ala1017Thr		Somatic				IDE_uc010qnp.2_Missense_Mutation_p.A462T|IDE_uc001khz.3_Missense_Mutation_p.A462T	p.A1017T	NM_004969	NP_004960	WXS	Illumina GAIIx	Phase_I	P14735	IDE_HUMAN			24	3125	-			1017					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.3049G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955730	0.73902	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.34859	1.34;1.35	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.47716	1.5	0.58432	D	0.999999	B;D	0.54207	0.292;0.965	B;P	0.46299	0.038;0.511	T	0.04495	-1.0947	10	0.24483	T	0.36	-13.0314	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1017;462	P14735;B3KSB8	IDE_HUMAN;.	T	1017;462	ENSP00000265986:A1017T;ENSP00000360637:A462T	ENSP00000265986:A1017T	A	-	1	0	IDE	94204192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.475000	0.66787	2.788000	0.95919	0.650000	0.86243	GCA		0.433	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		4	129	0	0	0	1	0	4	129					T	94214212	C	T	94214212	3	4	26	1	0	0	0	0	1	0	0	0	7493	710	25	2	14	2	IDE	10	94214212	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		94214212	41320535	7	566											
TCP11L2	255394	broad.mit.edu	37	12	106715426	106715426	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr12:106715426G>C	ENST00000299045.3	+	5	751	c.577G>C	c.(577-579)Gtg>Ctg	p.V193L	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000546625.1_Missense_Mutation_p.V193L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	193										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GTGTGCTCCCGTGCGAGATAA	0.493																																						uc001tln.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(577-579)Gtg>Ctg		Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.							173	156	162					12																	106715426		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106715426G>C	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.577G>C	12.37:g.106715426G>C	ENSP00000299045:p.Val193Leu		Somatic				TCP11L2_uc001tll.3_Missense_Mutation_p.V193L|TCP11L2_uc001tlm.3_Missense_Mutation_p.V193L	p.V193L	NM_152772	NP_689985	WXS	Illumina GAIIx	Phase_I	Q8N4U5	T11L2_HUMAN			4	751	+			193					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.577G>C	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549194	0.65311	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	5.18	0.71444	.	0.297969	0.36234	N	0.002719	T	0.22513	0.0543	M	0.79805	2.47	0.23616	N	0.997285	P;P;B	0.46859	0.838;0.885;0.338	P;B;B	0.48063	0.565;0.429;0.058	T	0.16247	-1.0409	10	0.12430	T	0.62	-20.4283	10.2898	0.43588	0.2038:0.0:0.7962:0.0	.	193;193;193	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	L	193	ENSP00000448952:V193L;ENSP00000299045:V193L;ENSP00000449123:V193L;ENSP00000448629:V193L	ENSP00000299045:V193L	V	+	1	0	TCP11L2	105239556	0.229000	0.23729	0.869000	0.34112	0.978000	0.69477	1.286000	0.33273	1.570000	0.49709	0.655000	0.94253	GTG		0.493	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		3	82	0	0	0	1	0	3	82					C	106715426	G	C	106715426	3	2	26	1	0	0	0	0	1	0	0	0	15712	1145	40	4	591	4	TCP11L2	12	106715426	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		106715426	27136469	8	567											
ATP6V0C	527	broad.mit.edu	37	16	2569368	2569368	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr16:2569368G>T	ENST00000330398.4	+	2	463	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|AMDHD2_ENST00000413459.3_5'Flank|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R372L|AMDHD2_ENST00000302956.4_5'Flank|AMDHD2_ENST00000293971.6_5'Flank|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	77					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGTCCTCATCGCCAACTCCCT	0.612																																						uc002cqm.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(1114-1116)cGc>cTc		Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA.							91	69	76					16																	2569368		2198	4300	6498	SO:0001583	missense	57465				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding	g.chr16:2569368G>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"ATPases / V-type"	855	protein-coding gene	gene with protein product		108745	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.229G>T	16.37:g.2569368G>T	ENSP00000329757:p.Ala77Ser		Somatic				ATP6V0C_uc021tav.1_Missense_Mutation_p.A77S|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A77S|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	p.R372L	NM_020705	NP_065756	WXS	Illumina GAIIx	Phase_I	Q9ULP9	TBC24_HUMAN			1	1230	+			0			TLD.		Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.1115G>T	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262072	0.39995	.	.	ENSG00000185883	ENST00000330398	T	0.40225	1.04	4.85	3.9	0.45041	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	D	0.000000	T	0.23926	0.0579	N	0.12611	0.24	0.58432	D	0.999998	B	0.15719	0.014	B	0.22386	0.039	T	0.04522	-1.0945	10	0.13108	T	0.6	-3.3277	11.9352	0.52870	0.0854:0.0:0.9146:0.0	.	77	P27449	VATL_HUMAN	S	77	ENSP00000329757:A77S	ENSP00000329757:A77S	A	+	1	0	ATP6V0C	2509369	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.895000	0.87343	1.055000	0.40461	-0.265000	0.10407	GCC		0.612	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		3	64	0	0	0	1	0	3	64					T	2569368	G	T	2569368	3	4	26	1	0	0	0	0	1	0	0	0	1172	1087	38	4	235	4	ATP6V0C	16	2569368	Missense_Mutation	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08		2569368	87785385	9	568											
MYH1	4619	broad.mit.edu	37	17	10402290	10402290	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr17:10402290C>A	ENST00000226207.5	-	29	4079		c.e29+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGGAGCTTACCTTTATCTCC	0.398																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.e29+1		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							185	162	170					17																	10402290		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:10402290C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3984+1G>T	17.37:g.10402290C>A			Somatic				AK097500_uc002gml.1_Intron	p.K1328_splice	NM_005963	NP_005954	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			29	4078	-			1328					Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37	c.3984_splice	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948968	0.73787	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4571	0.94897	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10343015	1.000000	0.71417	0.994000	0.49952	0.649000	0.38597	7.750000	0.85110	2.690000	0.91761	0.655000	0.94253	.		0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	5	56	0	0	0	1	0	5	56					A	10402290	C	A	10402290	5	1	26	1	0	0	0	0	0	0	1	0	10029	521	18	4	1882	4	MYH1	17	10402290	Splice_Site	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		10402290	70792920	10	569											
LPIN3	64900	broad.mit.edu	37	20	39984584	39984584	+	Silent	SNP	T	T	C			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr20:39984584T>C	ENST00000373257.3	+	14	1804	c.1713T>C	c.(1711-1713)ccT>ccC	p.P571P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	571					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGACAGCCCTGTGATCCTGG	0.592																																						uc010ggh.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1714-1716)ccT>ccC		Homo sapiens lipin 3 (LPIN3), mRNA.							338	254	283					20																	39984584		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39984584T>C	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1713T>C	20.37:g.39984584T>C			Somatic				LPIN3_uc002xjx.3_Silent_p.P571P|LPIN3_uc010zwf.2_Non-coding_Transcript	p.P572P	NM_022896	NP_075047	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			13	1807	+		Myeloproliferative disorder(115;0.000739)	571					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1716T>C	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	T	3.783	-0.045297	0.07452	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.83	-3.91	0.04168	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.43421	D	0.995573	.	.	.	.	.	.	T	0.50030	-0.8875	4	.	.	.	-11.6615	8.351	0.32303	0.0:0.5085:0.2903:0.2012	.	.	.	.	P	61	.	.	L	+	2	0	LPIN3	39417998	0.000000	0.05858	0.986000	0.45419	0.382000	0.30200	-1.186000	0.03070	-0.588000	0.05882	-0.464000	0.05259	CTG		0.592	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		3	64	0	0	0	1	0	3	64					C	39984584	T	C	39984584	2	2	26	1	0	0	0	0	0	0	0	1	8920	1567	55	3		3	LPIN3	20	39984584	Silent	SNP	T	TCGA-BJ-A2N9-01A-11D-A18F-08		39984584	23040936	11	570											
PCNT	5116	broad.mit.edu	37	21	47783836	47783836	+	Silent	SNP	C	C	T			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr21:47783836C>T	ENST00000359568.5	+	14	2703	c.2596C>T	c.(2596-2598)Ctg>Ttg	p.L866L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	866					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)					GCAGCTGATGCTGGCCCGGAG	0.677																																						uc002zji.4																			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.(2596-2598)Ctg>Ttg		Homo sapiens pericentrin (PCNT), mRNA.							38	44	42					21																	47783836		2180	4265	6445	SO:0001819	synonymous_variant	5116				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	g.chr21:47783836C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2596C>T	21.37:g.47783836C>T			Somatic				PCNT_uc002zjj.3_Silent_p.L748L	p.L866L	NM_006031	NP_006022	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			13	2703	+	Breast(49;0.112)		866					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2596C>T	CCDS33592.1																																																																																				0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	91	0	0	0	1	0	3	91					T	47783836	C	T	47783836	2	4	26	1	0	0	0	0	0	0	0	1	11590	796	28	2		2	PCNT	21	47783836	Silent	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		47783836	346059	12	571											
ARVCF	421	broad.mit.edu	37	22	19960732	19960732	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:19960732A>G	ENST00000263207.3	-	14	2639	c.2348T>C	c.(2347-2349)aTc>aCc	p.I783T	ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	783					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GATTTCGTGGATGGTGTTGAG	0.672																																						uc002zqz.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2347-2349)aTc>aCc		Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.							33	27	29					22																	19960732		2198	4294	6492	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960732A>G		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2348T>C	22.37:g.19960732A>G	ENSP00000263207:p.Ile783Thr		Somatic				ARVCF_uc002zqy.3_Missense_Mutation_p.I299T	p.I783T	NM_001670	NP_001661	WXS	Illumina GAIIx	Phase_I	O00192	ARVC_HUMAN			13	2618	-	Colorectal(54;0.0993)		783					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2348T>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890383	0.72524	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.79475	2.455	0.80722	D	1	B;P	0.37914	0.145;0.611	B;B	0.41332	0.112;0.354	T	0.60682	-0.7215	9	.	.	.	-13.0459	12.9426	0.58354	1.0:0.0:0.0:0.0	.	783;299	O00192;E7EV58	ARVC_HUMAN;.	T	783;720;720;714;777	ENSP00000263207:I783T;ENSP00000342042:I720T;ENSP00000384341:I720T;ENSP00000384732:I714T;ENSP00000385444:I777T	.	I	-	2	0	ARVCF	18340732	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.582000	0.74049	1.956000	0.56807	0.459000	0.35465	ATC		0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		6	11	0	0	0	1	0	6	11					G	19960732	A	G	19960732	3	3	26	1	0	0	0	0	1	0	0	0	1003	333	12	3	564	3	ARVCF	22	19960732	Missense_Mutation	SNP	A	TCGA-BJ-A2N9-01A-11D-A18F-08		19960732	31343834	13	572											
SEC14L4	284904	broad.mit.edu	37	22	30890948	30890948	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chr22:30890948G>A	ENST00000255858.7	-	6	507	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	SEC14L4_ENST00000381982.3_Splice_Site_p.L142L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Splice_Site_p.L88L|SEC14L4_ENST00000540456.1_Splice_Site_p.L127L|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	142	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TTCCTGCCCAGCTGCTTGGGA	0.587																																						uc003aid.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.e6-1		Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	Vitamin E(DB00163)						107	86	93					22																	30890948		2203	4300	6503	SO:0001630	splice_region_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890948G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.424-1C>T	22.37:g.30890948G>A			Somatic				SEC14L4_uc011akz.1_Splice_Site_p.L142_splice|SEC14L4_uc003aie.2_Splice_Site_p.L127_splice|SEC14L4_uc003aif.2_Splice_Site_p.L88_splice	p.L142_splice	NM_174977	NP_777637	WXS	Illumina GAIIx	Phase_I	Q9UDX3	S14L4_HUMAN			6	524	-			142			CRAL-TRIO.		A5D6W7|A6NCV4	Splice_Site	SNP	ENST00000255858.7	37	c.424_splice	CCDS13878.1																																																																																				0.587	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	Silent	11	34	0	0	0	1	0	11	34					A	30890948	G	A	30890948	5	1	26	1	0	0	0	0	0	0	1	0	13984	985	34	2	830	2	SEC14L4	22	30890948	Splice_Site	SNP	G	TCGA-BJ-A2N9-01A-11D-A18F-08	10930216	30890948	20413618	14	573											
WDR45	11152	broad.mit.edu	37	X	48933589	48933589	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N9-01A-11D-A18F-08	TCGA-BJ-A2N9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a00bec6-810b-4749-93e0-039659cbf4c9	b26431e2-7d3d-475e-bfdf-013f3306f45e	g.chrX:48933589C>A	ENST00000376372.3	-	7	633	c.452G>T	c.(451-453)tGc>tTc	p.C151F	WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000356463.3_Missense_Mutation_p.C152F|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|AF196779.12_ENST00000376358.3_Missense_Mutation_p.C49F	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	151					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCTGGGGCAGAGGTCACA	0.597																																						uc004dml.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(454-456)tGc>tTc		Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.							56	44	48					X																	48933589		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933589C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.452G>T	X.37:g.48933589C>A	ENSP00000365551:p.Cys151Phe		Somatic				WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Missense_Mutation_p.C49F|WDR45_uc004dmj.1_Missense_Mutation_p.C112F|WDR45_uc004dmk.1_Missense_Mutation_p.C151F|WDR45_uc004dmn.1_Missense_Mutation_p.C42F|WDR45_uc004dmp.1_Missense_Mutation_p.C152F	p.C152F	NM_007075	NP_009006	WXS	Illumina GAIIx	Phase_I	Q9Y484	WIPI4_HUMAN			6	627	-			151					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.455G>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993589	0.54041	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	3.92	3.92	0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.83118	2.625	0.80722	D	1	D;B;B;B;B;P	0.56287	0.975;0.003;0.005;0.007;0.001;0.939	B;B;B;B;B;P	0.50192	0.356;0.003;0.011;0.011;0.011;0.634	D	0.87352	0.2338	10	0.87932	D	0	-14.9901	14.6881	0.69065	0.0:1.0:0.0:0.0	.	49;151;162;116;152;151	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	F	49;151;162;152;116;151;152;151;84;117;176;169;127;49	ENSP00000451962:C49F;ENSP00000365551:C151F;ENSP00000365543:C162F;ENSP00000348848:C152F;ENSP00000419897:C116F;ENSP00000417211:C151F;ENSP00000365546:C152F;ENSP00000379913:C151F;ENSP00000418466:C84F;ENSP00000418919:C117F;ENSP00000420728:C176F;ENSP00000393640:C169F;ENSP00000419324:C127F;ENSP00000365536:C49F	ENSP00000365536:C49F	C	-	2	0	AF196779.12;WDR45	48820533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.533000	0.67160	1.896000	0.54893	0.532000	0.56150	TGC		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		11	12	0	0	0	1	0	11	12					A	48933589	C	A	48933589	3	1	26	1	0	0	0	0	1	0	0	0	17294	710	25	4	650	4	WDR45	23	48933589	Missense_Mutation	SNP	C	TCGA-BJ-A2N9-01A-11D-A18F-08		48933589	106336971	15	574											
KIAA0319L	79932	broad.mit.edu	37	1	35915475	35915475	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr1:35915475C>T	ENST00000325722.3	-	15	2580	c.2346G>A	c.(2344-2346)gtG>gtA	p.V782V	KIAA0319L_ENST00000373266.4_Silent_p.V219V|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	782	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACCAGGTTTCACCTCCACAG	0.493																																						uc001byx.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2344-2346)gtG>gtA		Homo sapiens KIAA0319-like (KIAA0319L), mRNA.							142	101	115					1																	35915475		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915475C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2346G>A	1.37:g.35915475C>T			Somatic				KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V	p.V782V	NM_024874	NP_079150	WXS	Illumina GAIIx	Phase_I	Q8IZA0	K319L_HUMAN			14	2604	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	782			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2346G>A	CCDS390.1																																																																																				0.493	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		11	44	0	0	0	1	0	11	44					T	35915475	C	T	35915475	2	4	27	1	0	0	0	0	0	0	0	1	8169	813	29	2		2	KIAA0319L	1	35915475	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		35915475	213335146	1	575											
OXER1	165140	broad.mit.edu	37	2	42991084	42991084	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991084G>C	ENST00000378661.2	-	1	317	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	79	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGGCCCTCCAGAGGACCCCCC	0.627																																						uc002rss.3																			0		p.S78fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(235-237)tCt>tGt		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							30	34	33					2																	42991084		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991084G>C	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.236C>G	2.37:g.42991084G>C	ENSP00000367930:p.Ser79Cys		Somatic					p.S79C	NM_148962	NP_683765	WXS	Illumina GAIIx	Phase_I	Q8TDS5	OXER1_HUMAN			0	318	-			79			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.236C>G	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	8.765	0.924573	0.18056	.	.	ENSG00000162881	ENST00000378661	T	0.61510	0.1	2.7	-0.823	0.10815	.	1.098910	0.07490	U	0.905469	T	0.32346	0.0826	N	0.08118	0	0.09310	N	1	B	0.23185	0.081	B	0.14023	0.01	T	0.20405	-1.0276	10	0.59425	D	0.04	.	3.9433	0.09338	0.1345:0.0:0.3617:0.5038	.	79	Q8TDS5	OXER1_HUMAN	C	79	ENSP00000367930:S79C	ENSP00000367930:S79C	S	-	2	0	OXER1	42844588	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.048000	0.14078	-0.192000	0.10432	0.555000	0.69702	TCT		0.627	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		9	20	0	0	0	1	0	9	20					C	42991084	G	C	42991084	3	2	27	1	0	0	0	0	1	0	0	0	11331	942	33	4	1039	4	OXER1	2	42991084	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		42991084	200208289	2	576			1	4		3	3	89	G		7.38521e-09
OXER1	165140	broad.mit.edu	37	2	42991137	42991137	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991137G>A	ENST00000378661.2	-	1	264	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	61	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gtgagggagagaaggagggag	0.612																																						uc002rss.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(181-183)ttC>ttT		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							42	38	40					2																	42991137		2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991137G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.183C>T	2.37:g.42991137G>A			Somatic					p.F61F	NM_148962	NP_683765	WXS	Illumina GAIIx	Phase_I	Q8TDS5	OXER1_HUMAN			0	265	-			61			Ser-rich.		Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.183C>T	CCDS1810.1																																																																																				0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		8	20	0	0	0	1	0	8	20					A	42991137	G	A	42991137	2	1	27	1	0	0	0	0	0	0	0	1	11331	933	33	2		2	OXER1	2	42991137	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	53	42991137	200208236	3	577			1	4		3	3	89	G		7.38521e-09
OXER1	165140	broad.mit.edu	37	2	42991172	42991172	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991172G>A	ENST00000378661.2	-	1	229	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	50	Ser-rich.				G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gagagagagggagatggagag	0.602																																						uc002rss.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(148-150)Ccc>Tcc		Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.							69	58	61					2																	42991172		2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42991172G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.148C>T	2.37:g.42991172G>A	ENSP00000367930:p.Pro50Ser		Somatic					p.P50S	NM_148962	NP_683765	WXS	Illumina GAIIx	Phase_I	Q8TDS5	OXER1_HUMAN			0	230	-			50			Ser-rich.		Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.148C>T	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164731	0.38217	.	.	ENSG00000162881	ENST00000378661	T	0.60171	0.21	3.09	2.2	0.27929	.	.	.	.	.	T	0.30792	0.0776	N	0.08118	0	0.09310	N	1	P	0.42757	0.789	B	0.40329	0.326	T	0.11179	-1.0598	9	0.08837	T	0.75	.	6.4874	0.22097	0.1488:0.0:0.8512:0.0	.	50	Q8TDS5	OXER1_HUMAN	S	50	ENSP00000367930:P50S	ENSP00000367930:P50S	P	-	1	0	OXER1	42844676	0.102000	0.21896	0.001000	0.08648	0.016000	0.09150	1.957000	0.40392	0.580000	0.29522	0.455000	0.32223	CCC		0.602	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		6	39	0	0	0	1	0	6	39					A	42991172	G	A	42991172	3	1	27	1	0	0	0	0	1	0	0	0	11331	1174	41	2	1127	2	OXER1	2	42991172	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	35	42991172	200208201	4	578			1	4		3	3	89	G		7.38521e-09
SPC25	57405	broad.mit.edu	37	2	169732647	169732647	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:169732647T>C	ENST00000282074.2	-	5	527	c.386A>G	c.(385-387)aAa>aGa	p.K129R	SPC25_ENST00000472216.2_5'Flank	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	129	Interaction with the N-terminus of SPBC24.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						CTGCAGCCTTTTCAACCTCTC	0.289																																						uc002uel.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						c.(385-387)aAa>aGa		Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.							24	27	26					2																	169732647		2196	4293	6489	SO:0001583	missense	57405				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding	g.chr2:169732647T>C	AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.386A>G	2.37:g.169732647T>C	ENSP00000282074:p.Lys129Arg		Somatic					p.K129R	NM_020675	NP_065726	WXS	Illumina GAIIx	Phase_I	Q9HBM1	SPC25_HUMAN			4	517	-			129			Interaction with the N-terminus of SPBC24.		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	c.386A>G	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339908	0.60963	.	.	ENSG00000152253	ENST00000282074	D	0.86366	-2.11	6.17	6.17	0.99709	.	0.222920	0.52532	D	0.000062	D	0.84506	0.5487	L	0.60455	1.87	0.47065	D	0.999305	B	0.23854	0.092	B	0.27500	0.08	T	0.79403	-0.1818	10	0.14252	T	0.57	-17.3381	14.3455	0.66658	0.0:0.0:0.0:1.0	.	129	Q9HBM1	SPC25_HUMAN	R	129	ENSP00000282074:K129R	ENSP00000282074:K129R	K	-	2	0	SPC25	169440893	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.942000	0.63547	2.371000	0.80710	0.533000	0.62120	AAA		0.289	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2	NM_020675		2	17	0	0	0	1	0	2	17					C	169732647	T	C	169732647	3	2	27	1	0	0	0	0	1	0	0	0	15021	1841	64	3	300	3	SPC25	2	169732647	Missense_Mutation	SNP	T	TCGA-BJ-A2NA-01A-12D-A19J-08	126741475	169732647	73466726	5	579											
SLC34A2	10568	broad.mit.edu	37	4	25678361	25678361	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr4:25678361C>T	ENST00000382051.3	+	13	2113	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	SLC34A2_ENST00000503434.1_Missense_Mutation_p.T687M|SLC34A2_ENST00000504570.1_Missense_Mutation_p.T687M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	688					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCGAATGCACGGCCTTGTAG	0.567			T	ROS1	NSCLC																																	uc003grr.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2062-2064)aCg>aTg		Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.							52	53	53					4																	25678361		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678361C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2063C>T	4.37:g.25678361C>T	ENSP00000371483:p.Thr688Met		Somatic				SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M	p.T688M	NM_006424	NP_006415	WXS	Illumina GAIIx	Phase_I	O95436	NPT2B_HUMAN			12	2144	+		Breast(46;0.0503)	688					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.2063C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741588	0.49151	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.23950	1.88;1.88;1.88	5.02	5.02	0.67125	.	0.099991	0.64402	D	0.000002	T	0.28928	0.0718	M	0.69823	2.125	0.09310	N	0.999999	D;D	0.56968	0.978;0.962	B;B	0.39562	0.303;0.159	T	0.43228	-0.9404	10	0.72032	D	0.01	-14.514	14.1694	0.65500	0.0:1.0:0.0:0.0	.	687;688	O95436-2;O95436	.;NPT2B_HUMAN	M	687;688;687	ENSP00000425501:T687M;ENSP00000371483:T688M;ENSP00000423021:T687M	ENSP00000371483:T688M	T	+	2	0	SLC34A2	25287459	0.650000	0.27331	0.053000	0.19242	0.021000	0.10359	2.570000	0.45981	2.492000	0.84095	0.555000	0.69702	ACG		0.567	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		20	33	0	0	0	1	0	20	33					T	25678361	C	T	25678361	3	4	27	1	0	0	0	0	1	0	0	0	14568	536	19	1	2109	1	SLC34A2	4	25678361	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		25678361	165475915	6	580											
MRS2	57380	broad.mit.edu	37	6	24409748	24409748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:24409748C>T	ENST00000378386.3	+	4	454	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MRS2_ENST00000535061.1_Intron|MRS2_ENST00000378353.1_Nonsense_Mutation_p.Q121*|MRS2_ENST00000443868.2_Nonsense_Mutation_p.Q121*|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000274747.7_Intron	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	121						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTGAGATTTCAGCATGTAAT	0.303																																						uc011djl.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(361-363)Cag>Tag		Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.							88	90	89					6																	24409748		2203	4299	6502	SO:0001587	stop_gained	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24409748C>T	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.361C>T	6.37:g.24409748C>T	ENSP00000367637:p.Gln121*		Somatic				MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron	p.Q121*	NM_020662	NP_065713	WXS	Illumina GAIIx	Phase_I	Q9HD23	MRS2_HUMAN			3	483	+			121					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Nonsense_Mutation	SNP	ENST00000378386.3	37	c.361C>T	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	C	37	6.516849	0.97629	.	.	ENSG00000124532	ENST00000378386;ENST00000378353;ENST00000443868	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-25.1512	19.7727	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000367604:Q121X	Q	+	1	0	MRS2	24517727	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.636000	0.83301	2.758000	0.94735	0.563000	0.77884	CAG		0.303	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			5	68	0	0	0	1	0	5	68					T	24409748	C	T	24409748	4	4	27	1	0	0	0	0	0	1	0	0	9851	827	29	2	375	2	MRS2	6	24409748	Nonsense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		24409748	146705319	7	581											
MDN1	23195	broad.mit.edu	37	6	90400467	90400467	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:90400467C>T	ENST00000369393.3	-	64	10789	c.10674G>A	c.(10672-10674)agG>agA	p.R3558R	MDN1_ENST00000428876.1_Silent_p.R3558R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3558					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)		TCCTAGAGTTCCTGCTCCTGT	0.517																																						uc003pnn.1																			0				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						c.(10672-10674)agG>agA		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							131	106	114					6																	90400467		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90400467C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10674G>A	6.37:g.90400467C>T			Somatic					p.R3558R	NM_014611	NP_055426	WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	63	10790	-		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)	3558					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.10674G>A	CCDS5024.1																																																																																				0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	42	0	0	0	1	0	6	42					T	90400467	C	T	90400467	2	4	27	1	0	0	0	0	0	0	0	1	9415	854	30	2		2	MDN1	6	90400467	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	65990719	90400467	80714600	8	582											
PPP1R14C	81706	broad.mit.edu	37	6	150464574	150464574	+	Silent	SNP	G	G	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:150464574G>T	ENST00000361131.4	+	1	363	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	82					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAGCTTCGGAAGCGGCTGG	0.647																																					Melanoma(165;1879 1941 2052 16588 48349)	uc003qnt.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(244-246)cgG>cgT		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.							37	39	39					6																	150464574		2203	4300	6503	SO:0001819	synonymous_variant	81706				regulation of phosphorylation	cytoplasm|membrane		g.chr6:150464574G>T	AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.246G>T	6.37:g.150464574G>T			Somatic					p.R82R	NM_030949	NP_112211	WXS	Illumina GAIIx	Phase_I	Q8TAE6	PP14C_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)	0	387	+		Ovarian(120;0.0284)	82					Q5VY83|Q96BB1|Q9H277	Silent	SNP	ENST00000361131.4	37	c.246G>T	CCDS5226.1																																																																																				0.647	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042685.1	NM_030949		7	16	0	0	0	1	0	7	16					T	150464574	G	T	150464574	2	4	27	1	0	0	0	0	0	0	0	1	12361	1161	41	4		4	PPP1R14C	6	150464574	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	60064107	150464574	20650493	9	583											
ZDHHC14	79683	broad.mit.edu	37	6	157803239	157803239	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:157803239C>T	ENST00000359775.5	+	1	1075	c.186C>T	c.(184-186)ggC>ggT	p.G62G	ZDHHC14_ENST00000414563.2_Silent_p.G62G			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	62					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)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCAGACGGGCGTCTTCTACC	0.592																																						uc003qqt.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(184-186)ggC>ggT		Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.							47	52	50					6																	157803239		2203	4296	6499	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157803239C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.186C>T	6.37:g.157803239C>T			Somatic				ZDHHC14_uc003qqs.3_Silent_p.G62G	p.G62G	NM_024630	NP_078906	WXS	Illumina GAIIx	Phase_I	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	0	683	+		Breast(66;0.00586)|Ovarian(120;0.123)	62					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.186C>T	CCDS5252.1																																																																																				0.592	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		18	36	0	0	0	1	0	18	36					T	157803239	C	T	157803239	2	4	27	1	0	0	0	0	0	0	0	1	17601	755	27	1		1	ZDHHC14	6	157803239	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7338665	157803239	13311828	10	584											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	53	0	0	0	1	0	18	53					T	140453136	A	T	140453136	3	4	27	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08		140453136	18685527	11	585											
WHSC1L1	54904	broad.mit.edu	37	8	38205277	38205277	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:38205277G>A	ENST00000317025.8	-	2	930	c.413C>T	c.(412-414)tCg>tTg	p.S138L	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.S138L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.S138L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.S138L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	138					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGTGGTACCGAAGGAGGAGG	0.418			T	NUP98	AML																																	uc003xli.3				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(412-414)tCg>tTg		Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.							94	100	98					8																	38205277		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205277G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.413C>T	8.37:g.38205277G>A	ENSP00000313983:p.Ser138Leu		Somatic				WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L	p.S138L	NM_023034	NP_075447	WXS	Illumina GAIIx	Phase_I	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		1	931	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	138					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.413C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241230	0.39598	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95482	-3.72;-3.71;-3.71;-0.26;0.8	5.03	4.16	0.48862	.	0.422482	0.17399	U	0.175632	D	0.89455	0.6720	N	0.14661	0.345	0.32899	D	0.512977	P;P;B;P	0.43909	0.727;0.821;0.009;0.727	B;B;B;B	0.38616	0.143;0.277;0.008;0.143	D	0.90172	0.4236	10	0.34782	T	0.22	.	13.2932	0.60282	0.0759:0.0:0.9241:0.0	.	138;138;138;138	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	138;138;75;138;138;138	ENSP00000393284:S138L;ENSP00000313983:S138L;ENSP00000434730:S138L;ENSP00000313410:S138L;ENSP00000435422:S138L	ENSP00000313410:S138L	S	-	2	0	WHSC1L1	38324434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.023000	0.49666	1.329000	0.45376	0.563000	0.77884	TCG		0.418	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		23	79	0	0	0	1	0	23	79					A	38205277	G	A	38205277	3	1	27	1	0	0	0	0	1	0	0	0	17360	1059	37	1	4079	1	WHSC1L1	8	38205277	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		38205277	108158745	12	586											
SNX31	169166	broad.mit.edu	37	8	101661544	101661544	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:101661544G>A	ENST00000311812.2	-	2	249	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCCTGCAGAAGAGGAACC	0.612																																						uc003yjr.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(97-99)ttC>ttT		Homo sapiens sorting nexin 31 (SNX31), mRNA.							69	67	68					8																	101661544		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101661544G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.99C>T	8.37:g.101661544G>A			Somatic					p.F33F	NM_152628	NP_689841	WXS	Illumina GAIIx	Phase_I	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		1	250	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		33			PX.		C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.99C>T	CCDS6288.1																																																																																				0.612	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		4	34	0	0	0	1	0	4	34					A	101661544	G	A	101661544	2	1	27	1	0	0	0	0	0	0	0	1	14901	933	33	2		2	SNX31	8	101661544	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	63456267	101661544	44702478	13	587											
CEP110	11064	broad.mit.edu	37	9	123936008	123936008	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr9:123936008G>A	ENST00000373855.1	+	42	7000	c.6740G>A	c.(6739-6741)cGa>cAa	p.R2247Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.R1695Q|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2247Q			Q7Z7A1	CNTRL_HUMAN	centriolin	2247	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGGGAAGACCGACTCAAGGTT	0.463																																						uc004bkx.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6739-6741)cGa>cAa		Homo sapiens centriolin (CNTRL), mRNA.							110	117	114					9																	123936008		2203	4300	6503	SO:0001583	missense	11064				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding	g.chr9:123936008G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6740G>A	9.37:g.123936008G>A	ENSP00000362962:p.Arg2247Gln		Somatic				CNTRL_uc004blb.1_Missense_Mutation_p.R916Q|CNTRL_uc010mvp.1_Missense_Mutation_p.R197Q	p.R2247Q	NM_007018	NP_008949	WXS	Illumina GAIIx	Phase_I	Q7Z7A1	CNTRL_HUMAN			39	6771	+			2247			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6740G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150376	0.37923	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.33216	1.71;1.71;1.42	6.03	4.18	0.49190	.	.	.	.	.	T	0.19485	0.0468	L	0.28115	0.83	0.29888	N	0.825473	B	0.30193	0.272	B	0.15052	0.012	T	0.09400	-1.0676	9	0.27082	T	0.32	.	11.043	0.47842	0.1522:0.0:0.8478:0.0	.	2247	Q7Z7A1	CNTRL_HUMAN	Q	2247;2247;2247;404;1695;929	ENSP00000362962:R2247Q;ENSP00000238341:R2247Q;ENSP00000362956:R1695Q	ENSP00000238341:R2247Q	R	+	2	0	CNTRL	122975829	0.996000	0.38824	0.989000	0.46669	0.399000	0.30720	2.043000	0.41231	0.866000	0.35629	-0.140000	0.14226	CGA		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		18	108	0	0	0	1	0	18	108					A	123936008	G	A	123936008	3	1	27	1	0	0	0	0	1	0	0	0	3245	1058	37	1	6898	1	CEP110	9	123936008	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		123936008	17277423	14	588											
RAB11FIP2	22841	broad.mit.edu	37	10	119798740	119798740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr10:119798740delC	ENST00000355624.3	-	3	1447	c.1008delG	c.(1006-1008)atgfs	p.M336fs	RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.M336fs|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	336					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AAAATAAATTCATGCTGCTGT	0.343																																						uc009xyz.2																			0		p.S335N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1006-1008)atgfs		Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.							113	117	116					10																	119798740		2203	4299	6502	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798740delC	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1008delG	10.37:g.119798740delC	ENSP00000347839:p.Met336fs		Somatic				RAB11FIP2_uc001ldj.2_Frame_Shift_Del_p.M336fs	p.M336fs	NM_014904	NP_055719	WXS	Illumina GAIIx	Phase_I	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1448	-		Colorectal(252;0.235)	336					A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1008delG	CCDS7602.1																																																																																				0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		32	70						32	70	---	---	---	---	-	119798740	C	-	119798740	7	5	27	1	0	1	0	1	0	0	0	0	12894	826	29	0	542	0	RAB11FIP2	10	119798740	Frame_Shift_Del	DEL	C	TCGA-BJ-A2NA-01A-12D-A19J-08		119798740	15736007	15	589											
IGSF22	283284	broad.mit.edu	37	11	18741432	18741432	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:18741432G>A	ENST00000513874.1	-	7	666	c.527C>T	c.(526-528)cCt>cTt	p.P176L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	176	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTGGGAGCAGGGGGTGCCCT	0.502																																						uc009yht.2																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(526-528)cCt>cTt		Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.							133	129	130					11																	18741432		1883	4116	5999	SO:0001583	missense	283284							g.chr11:18741432G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.527C>T	11.37:g.18741432G>A	ENSP00000421191:p.Pro176Leu		Somatic				IGSF22_uc001mpa.2_Non-coding_Transcript	p.P176L	NM_173588	NP_775859	WXS	Illumina GAIIx	Phase_I	Q8N9C0	IGS22_HUMAN			6	717	-			176			Lys-rich.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.527C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399995	0.62177	.	.	ENSG00000179057	ENST00000513874	T	0.52983	0.64	5.02	2.08	0.27032	.	0.000000	0.36628	U	0.002498	T	0.39410	0.1077	L	0.54323	1.7	0.38547	D	0.949375	B	0.20780	0.048	B	0.22386	0.039	T	0.20638	-1.0269	10	0.38643	T	0.18	.	7.9838	0.30198	0.2543:0.0:0.7457:0.0	.	176	D6RGV7	.	L	176	ENSP00000421191:P176L	ENSP00000322422:P176L	P	-	2	0	IGSF22	18698008	0.971000	0.33674	0.234000	0.24042	0.964000	0.63967	2.102000	0.41796	0.148000	0.19059	0.557000	0.71058	CCT		0.502	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		7	117	0	0	0	1	0	7	117					A	18741432	G	A	18741432	3	1	27	1	0	0	0	0	1	0	0	0	7600	1000	35	2	3521	2	IGSF22	11	18741432	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		18741432	116265084	16	590											
OR10Q1	219960	broad.mit.edu	37	11	57995529	57995529	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:57995529C>T	ENST00000316770.2	-	1	861	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTCCTCATCCTCTGAGGTGC	0.572																																						uc010rkd.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(817-819)gaG>gaA		Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.							105	93	97					11																	57995529		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995529C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.819G>A	11.37:g.57995529C>T			Somatic					p.E273E	NM_001004471	NP_001004471	WXS	Illumina GAIIx	Phase_I	Q8NGQ4	O10Q1_HUMAN			0	862	-		Breast(21;0.0589)	273					Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.819G>A	CCDS31547.1																																																																																				0.572	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		30	38	0	0	0	1	0	30	38					T	57995529	C	T	57995529	2	4	27	1	0	0	0	0	0	0	0	1	10916	680	24	2		2	OR10Q1	11	57995529	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	39254097	57995529	77010987	17	591											
ST8SIA1	6489	broad.mit.edu	37	12	22487068	22487068	+	Silent	SNP	A	A	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:22487068A>G	ENST00000396037.4	-	1	580	c.99T>C	c.(97-99)agT>agC	p.S33S	ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Silent_p.S33S|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Silent_p.S33S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	33					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGAGGGCACTGGCTCCCA	0.667																																						uc001rfo.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(97-99)agT>agC		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.							94	91	92					12																	22487068		2203	4300	6503	SO:0001819	synonymous_variant	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487068A>G	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.99T>C	12.37:g.22487068A>G			Somatic				ST8SIA1_uc009zix.3_5'UTR	p.S33S	NM_003034	NP_003025	WXS	Illumina GAIIx	Phase_I	Q92185	SIA8A_HUMAN			0	581	-			33					A8K4H6|Q17RL0|Q6PZN5|Q93064	Silent	SNP	ENST00000396037.4	37	c.99T>C	CCDS8697.1																																																																																				0.667	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		29	72	0	0	0	1	0	29	72					G	22487068	A	G	22487068	2	3	27	1	0	0	0	0	0	0	0	1	15230	156	6	3		3	ST8SIA1	12	22487068	Silent	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08		22487068	111364827	18	592											
MYF5	4617	broad.mit.edu	37	12	81112653	81112653	+	Silent	SNP	T	T	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:81112653T>C	ENST00000228644.3	+	3	743	c.591T>C	c.(589-591)gaT>gaC	p.D197D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	197					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCCACAGATAAAAACTCCT	0.423																																						uc001szg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(589-591)gaT>gaC		Homo sapiens myogenic factor 5 (MYF5), mRNA.							90	94	93					12																	81112653		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112653T>C		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.591T>C	12.37:g.81112653T>C			Somatic					p.D197D	NM_005593	NP_005584	WXS	Illumina GAIIx	Phase_I	P13349	MYF5_HUMAN			2	726	+			197					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.591T>C	CCDS9020.1																																																																																				0.423	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		34	60	0	0	0	1	0	34	60					C	81112653	T	C	81112653	2	2	27	1	0	0	0	0	0	0	0	1	10027	1403	49	3		3	MYF5	12	81112653	Silent	SNP	T	TCGA-BJ-A2NA-01A-12D-A19J-08	58625585	81112653	52739242	19	593											
FAM48A	55578	broad.mit.edu	37	13	37622068	37622068	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:37622068G>A	ENST00000350612.6	-	4	265	c.45C>T	c.(43-45)gtC>gtT	p.V15V	SUPT20H_ENST00000360252.4_Silent_p.V15V|SUPT20H_ENST00000464744.1_Silent_p.V15V|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Silent_p.V15V|SUPT20H_ENST00000475892.1_Silent_p.V15V|SUPT20H_ENST00000542180.1_Silent_p.V3V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	15					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CACTTTCAATGACATACTAAA	0.318																																						uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(43-45)gtC>gtT		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.							104	107	106					13																	37622068		2202	4299	6501	SO:0001819	synonymous_variant	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37622068G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.45C>T	13.37:g.37622068G>A			Somatic				FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V	p.V15V	NM_017569	NP_060039	WXS	Illumina GAIIx	Phase_I	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	3	293	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	15					E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.45C>T	CCDS31959.1																																																																																				0.318	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		6	52	0	0	0	1	0	6	52					A	37622068	G	A	37622068	2	1	27	1	0	0	0	0	0	0	0	1	5572	1277	45	2		2	FAM48A	13	37622068	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		37622068	77547810	20	594											
PIBF1	10464	broad.mit.edu	37	13	73539420	73539420	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:73539420A>C	ENST00000326291.6	+	15	2180	c.1842A>C	c.(1840-1842)agA>agC	p.R614S		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	614				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659). {ECO:0000305}.		centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCTTGACAGAGCCAATTCGC	0.343																																						uc001vjc.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1840-1842)agA>agC		Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.							77	74	75					13																	73539420		2202	4300	6502	SO:0001583	missense	10464					centrosome		g.chr13:73539420A>C	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1842A>C	13.37:g.73539420A>C	ENSP00000317144:p.Arg614Ser		Somatic				PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S	p.R614S	NM_006346	NP_006337	WXS	Illumina GAIIx	Phase_I	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	14	2147	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	614	DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).				O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1842A>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	7.008	0.556202	0.13436	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.26373	1.74	4.85	1.89	0.25635	.	0.232106	0.43747	D	0.000538	T	0.15955	0.0384	L	0.40543	1.245	0.43971	D	0.996659	P;P	0.36909	0.573;0.573	B;B	0.36666	0.23;0.23	T	0.10428	-1.0630	10	0.18276	T	0.48	-12.416	4.4416	0.11577	0.5655:0.0:0.2674:0.1671	.	614;614	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	S	614;73	ENSP00000317144:R614S	ENSP00000317144:R614S	R	+	3	2	PIBF1	72437421	0.999000	0.42202	1.000000	0.80357	0.645000	0.38454	0.350000	0.20079	0.148000	0.19059	-0.462000	0.05337	AGA		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		10	29	0	0	0	1	0	10	29					C	73539420	A	C	73539420	3	2	27	1	0	0	0	0	1	0	0	0	11879	301	11	5	1896	5	PIBF1	13	73539420	Missense_Mutation	SNP	A	TCGA-BJ-A2NA-01A-12D-A19J-08	35917352	73539420	41630458	21	595											
SLC39A2	29986	broad.mit.edu	37	14	21468323	21468323	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:21468323C>T	ENST00000298681.4	+	3	452	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	99					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGATTCAGCTCATGTAAGTAC	0.463																																						uc001vyr.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(295-297)Cat>Tat		Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.							109	95	100					14																	21468323		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21468323C>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.295C>T	14.37:g.21468323C>T	ENSP00000298681:p.His99Tyr		Somatic				SLC39A2_uc001vys.3_5'UTR	p.H99Y	NM_014579	NP_055394	WXS	Illumina GAIIx	Phase_I	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	2	487	+	all_cancers(95;0.00267)		99					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.295C>T	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943163	0.02322	.	.	ENSG00000165794	ENST00000298681	T	0.08102	3.13	5.27	-5.19	0.02832	.	3.072470	0.00674	N	0.000649	T	0.02342	0.0072	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38845	-0.9642	10	0.02654	T	1	13.8239	4.1357	0.10169	0.1183:0.186:0.1167:0.579	.	99	Q9NP94	S39A2_HUMAN	Y	99	ENSP00000298681:H99Y	ENSP00000298681:H99Y	H	+	1	0	SLC39A2	20538163	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.887000	0.04152	-0.684000	0.05183	-0.150000	0.13652	CAT		0.463	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		7	41	0	0	0	1	0	7	41					T	21468323	C	T	21468323	3	4	27	1	0	0	0	0	1	0	0	0	14618	826	29	2	305	2	SLC39A2	14	21468323	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		21468323	85881217	22	596											
KHNYN	23351	broad.mit.edu	37	14	24900883	24900883	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:24900883C>T	ENST00000251343.5	+	3	555	c.416C>T	c.(415-417)gCa>gTa	p.A139V	KHNYN_ENST00000556842.1_Missense_Mutation_p.A139V|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A139V|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	139							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGCTGGCAGAGCGGCTG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tpc.2																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(538-540)gCa>gTa		Homo sapiens KH and NYN domain containing (KHNYN), mRNA.							50	57	55					14																	24900883		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24900883C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.416C>T	14.37:g.24900883C>T	ENSP00000251343:p.Ala139Val		Somatic	OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank	p.A180V	NM_015299	NP_056114	WXS	Illumina GAIIx	Phase_I	O15037	KHNYN_HUMAN			2	555	+			139					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.539C>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.331967	0.01298	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.38722	1.12;1.12;1.12	5.04	-2.81	0.05805	.	0.675193	0.13453	N	0.386742	T	0.08403	0.0209	N	0.00496	-1.435	0.35182	D	0.772539	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44922	-0.9296	10	0.02654	T	1	.	5.0214	0.14363	0.1321:0.3312:0.0:0.5367	.	180;139	D3DS77;O15037	.;KHNYN_HUMAN	V	139	ENSP00000251343:A139V;ENSP00000451106:A139V;ENSP00000450799:A139V	ENSP00000251343:A139V	A	+	2	0	KHNYN	23970723	0.969000	0.33509	0.647000	0.29507	0.109000	0.19521	0.392000	0.20801	-0.211000	0.10124	-0.440000	0.05779	GCA		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			8	55	0	0	0	1	0	8	55					T	24900883	C	T	24900883	3	4	27	1	0	0	0	0	1	0	0	0	8150	710	25	2	422	2	KHNYN	14	24900883	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	3432560	24900883	82448657	23	597											
NKX2-1	7080	broad.mit.edu	37	14	36988488	36988488	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:36988488C>G	ENST00000518149.1	-	2	680	c.75G>C	c.(73-75)aaG>aaC	p.K25N	NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K25N|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K55N|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K25N|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	25					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|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)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCACTTTCTTGTAGCTTT	0.652			A		NSCLC																																	uc001wtu.3				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(163-165)aaG>aaC		Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.							12	14	14					14																	36988488		2182	4256	6438	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988488C>G		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.75G>C	14.37:g.36988488C>G	ENSP00000428341:p.Lys25Asn		Somatic				SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank	p.K55N	NM_001079668	NP_001073136	WXS	Illumina GAIIx	Phase_I	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	1	261	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		25					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.165G>C	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929769	0.73327	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.12	5.12	0.69794	.	0.167890	0.51477	D	0.000099	T	0.80374	0.4611	M	0.83692	2.655	0.80722	D	1	D;P	0.58268	0.982;0.917	P;B	0.50708	0.648;0.446	T	0.82458	-0.0447	10	0.44086	T	0.13	.	18.5237	0.90963	0.0:1.0:0.0:0.0	.	55;25	P43699-3;P43699	.;NKX21_HUMAN	N	55;25;25;25	ENSP00000346879:K55N;ENSP00000429607:K25N;ENSP00000428341:K25N;ENSP00000429519:K25N	ENSP00000346879:K55N	K	-	3	2	NKX2-1	36058239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.410000	0.66381	2.381000	0.81170	0.462000	0.41574	AAG		0.652	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		3	20	0	0	0	1	0	3	20					G	36988488	C	G	36988488	3	3	27	1	0	0	0	0	1	0	0	0	10449	912	32	4	1048	4	NKX2-1	14	36988488	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	12087605	36988488	70361052	24	598											
KIAA0831	22863	broad.mit.edu	37	14	55848817	55848817	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:55848817G>A	ENST00000247178.5	-	6	775	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	247					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCATCGTCCTGAGAGGTAAGT	0.532																																						uc001xbx.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(739-741)tCa>tTa		Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.							182	154	163					14																	55848817		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848817G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.740C>T	14.37:g.55848817G>A	ENSP00000247178:p.Ser247Leu		Somatic				FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S134L	p.S247L	NM_014924	NP_055739	WXS	Illumina GAIIx	Phase_I	Q6ZNE5	BAKOR_HUMAN			5	776	-			247					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.740C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.955424	0.73902	.	.	ENSG00000126775	ENST00000247178	T	0.33216	1.42	5.87	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44406	-0.9330	10	0.42905	T	0.14	-9.6849	17.1487	0.86773	0.0:0.1263:0.8737:0.0	.	247	Q6ZNE5	BAKOR_HUMAN	L	247	ENSP00000247178:S247L	ENSP00000247178:S247L	S	-	2	0	ATG14	54918570	1.000000	0.71417	0.097000	0.21041	0.542000	0.35054	9.614000	0.98353	1.464000	0.47987	0.650000	0.86243	TCA		0.532	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		21	81	0	0	0	1	0	21	81					A	55848817	G	A	55848817	3	1	27	1	0	0	0	0	1	0	0	0	8195	1294	45	2	758	2	KIAA0831	14	55848817	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	18860329	55848817	51500723	25	599											
TTBK2	146057	broad.mit.edu	37	15	43067809	43067809	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:43067809C>T	ENST00000267890.6	-	13	1630	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	508					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TATTCTTCATCATAGTGCCAG	0.502																																						uc001zqo.2																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1522-1524)Gat>Aat		Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.							103	100	101					15																	43067809		1989	4155	6144	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067809C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1522G>A	15.37:g.43067809C>T	ENSP00000267890:p.Asp508Asn		Somatic				TTBK2_uc010bcy.2_Missense_Mutation_p.D439N	p.D508N	NM_173500	NP_775771	WXS	Illumina GAIIx	Phase_I	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	12	1961	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	508					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1522G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691451	0.96793	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.66099	-0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.961;0.996	T	0.79077	-0.1951	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	439;508	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	N	508;438;913	ENSP00000267890:D508N	ENSP00000263802:D913N	D	-	1	0	TTBK2	40855101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.294000	0.78760	2.827000	0.97445	0.650000	0.86243	GAT		0.502	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		12	80	0	0	0	1	0	12	80					T	43067809	C	T	43067809	3	4	27	1	0	0	0	0	1	0	0	0	16674	826	29	2	2224	2	TTBK2	15	43067809	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		43067809	59463583	26	600											
ABHD2	11057	broad.mit.edu	37	15	89659640	89659640	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:89659640G>A	ENST00000352732.5	+	3	602	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ABHD2_ENST00000565973.1_Missense_Mutation_p.V28M|ABHD2_ENST00000355100.3_Missense_Mutation_p.V28M	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	28					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)					TGTGCTGTACGTGATCGTCCG	0.577																																					Colon(11;252 417 24570 33239 41878)	uc002bnj.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(82-84)Gtg>Atg		Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.							116	99	105					15																	89659640		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89659640G>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.82G>A	15.37:g.89659640G>A	ENSP00000268129:p.Val28Met		Somatic				ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M	p.V28M	NM_007011	NP_690888	WXS	Illumina GAIIx	Phase_I	P08910	ABHD2_HUMAN			6	1000	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		28					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.82G>A	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892064	0.72524	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.15603	2.41;2.41	5.91	5.91	0.95273	.	0.136993	0.51477	D	0.000081	T	0.18383	0.0441	L	0.60455	1.87	0.58432	D	0.999997	P	0.51240	0.943	B	0.40982	0.345	T	0.00824	-1.1551	10	0.49607	T	0.09	-1.7991	10.6141	0.45441	0.1413:0.0:0.8587:0.0	.	28	P08910	ABHD2_HUMAN	M	28	ENSP00000268129:V28M;ENSP00000347217:V28M	ENSP00000268129:V28M	V	+	1	0	ABHD2	87460644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.492000	0.53259	2.793000	0.96121	0.655000	0.94253	GTG		0.577	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			34	59	0	0	0	1	0	34	59					A	89659640	G	A	89659640	3	1	27	1	0	0	0	0	1	0	0	0	82	1145	40	1	84	1	ABHD2	15	89659640	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	46591831	89659640	12871752	27	601											
OR2C1	4993	broad.mit.edu	37	16	3405956	3405956	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:3405956G>C	ENST00000304936.2	+	1	68	c.16G>C	c.(16-18)Gat>Cat	p.D6H		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	6					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGGGGTGAATGATAGCTCCTT	0.463																																						uc002cuw.1																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(16-18)Gat>Cat		Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.							77	72	74					16																	3405956		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3405956G>C	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.16G>C	16.37:g.3405956G>C	ENSP00000307726:p.Asp6His		Somatic					p.D6H	NM_012368	NP_036500	WXS	Illumina GAIIx	Phase_I	O95371	OR2C1_HUMAN			0	68	+			6					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.16G>C	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	7.834	0.720557	0.15372	.	.	ENSG00000168158	ENST00000304936	T	0.00578	6.44	4.35	-0.49	0.12049	.	2.273470	0.01900	N	0.039121	T	0.00384	0.0012	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46020	-0.9221	10	0.41790	T	0.15	.	8.0946	0.30820	0.6361:0.0:0.3639:0.0	.	6	O95371	OR2C1_HUMAN	H	6	ENSP00000307726:D6H	ENSP00000307726:D6H	D	+	1	0	OR2C1	3345957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.131000	0.01311	-0.311000	0.08754	-0.494000	0.04653	GAT		0.463	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			9	42	0	0	0	1	0	9	42					C	3405956	G	C	3405956	3	2	27	1	0	0	0	0	1	0	0	0	10992	1290	45	4	18	4	OR2C1	16	3405956	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		3405956	86948797	28	602											
FA2H	79152	broad.mit.edu	37	16	74750252	74750252	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:74750252C>G	ENST00000219368.3	-	6	1101	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	FA2H_ENST00000544337.1_Missense_Mutation_p.Q131H	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	344					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACCTGACTTCTGATGTGCAA	0.542																																						uc002fde.2																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(1030-1032)caG>caC		Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.							100	85	90					16																	74750252		2198	4300	6498	SO:0001583	missense	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74750252C>G	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.1032G>C	16.37:g.74750252C>G	ENSP00000219368:p.Gln344His		Somatic				FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript	p.Q344H	NM_024306	NP_077282	WXS	Illumina GAIIx	Phase_I	Q7L5A8	FA2H_HUMAN			5	1108	-			344					B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	c.1032G>C	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074800	0.36566	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.86097	-2.07;-2.07	5.4	1.98	0.26296	.	0.050919	0.85682	N	0.000000	T	0.72590	0.3479	L	0.43152	1.355	0.45648	D	0.998578	B;B	0.30741	0.293;0.071	B;B	0.28991	0.097;0.038	T	0.58983	-0.7539	10	0.13853	T	0.58	-9.8988	3.5304	0.07774	0.1871:0.4844:0.0:0.3285	.	344;252	Q7L5A8;B2RDE6	FA2H_HUMAN;.	H	344;131	ENSP00000219368:Q344H;ENSP00000442334:Q131H	ENSP00000219368:Q344H	Q	-	3	2	FA2H	73307753	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	1.113000	0.31184	0.649000	0.30751	0.655000	0.94253	CAG		0.542	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		7	42	0	0	0	1	0	7	42					G	74750252	C	G	74750252	3	3	27	1	0	0	0	0	1	0	0	0	5352	912	32	4	94	4	FA2H	16	74750252	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	71344296	74750252	15604501	29	603											
PHF23	79142	broad.mit.edu	37	17	7139630	7139630	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139630G>C	ENST00000320316.3	-	4	842	c.616C>G	c.(616-618)Cct>Gct	p.P206A	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000571362.1_Missense_Mutation_p.P139A|PHF23_ENST00000454255.2_Missense_Mutation_p.P202A|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000576955.1_Missense_Mutation_p.P76A	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	206							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCATCCCCAGGAGTTGGCCGA	0.582																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(616-618)Cct>Gct		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							81	90	87					17																	7139630		1861	4089	5950	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139630G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.616C>G	17.37:g.7139630G>C	ENSP00000322579:p.Pro206Ala		Somatic				DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A	p.P206A	NM_024297	NP_077273	WXS	Illumina GAIIx	Phase_I	Q9BUL5	PHF23_HUMAN			3	843	-			206					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.616C>G	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735268	0.48939	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.34859	1.35;1.34	4.92	2.93	0.34026	.	0.137208	0.49916	D	0.000133	T	0.34542	0.0901	N	0.14661	0.345	0.32968	D	0.521921	D;B	0.63880	0.993;0.068	D;B	0.70935	0.971;0.012	T	0.42531	-0.9446	10	0.42905	T	0.14	-7.2061	5.1001	0.14754	0.1854:0.1713:0.6432:0.0	.	139;206	B4DLK6;Q9BUL5	.;PHF23_HUMAN	A	206;202	ENSP00000322579:P206A;ENSP00000414607:P202A	ENSP00000322579:P206A	P	-	1	0	PHF23	7080354	0.998000	0.40836	0.991000	0.47740	0.991000	0.79684	2.676000	0.46883	0.660000	0.30964	0.563000	0.77884	CCT		0.582	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		17	76	0	0	0	1	0	17	76					C	7139630	G	C	7139630	3	2	27	1	0	0	0	0	1	0	0	0	11835	1174	41	4	603	4	PHF23	17	7139630	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		7139630	74055580	30	604											
PHF23	79142	broad.mit.edu	37	17	7139847	7139847	+	Silent	SNP	G	G	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139847G>C	ENST00000320316.3	-	4	625	c.399C>G	c.(397-399)ctC>ctG	p.L133L	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000571362.1_Silent_p.L66L|PHF23_ENST00000454255.2_Silent_p.L129L|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000576955.1_Silent_p.L3L	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	133							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAGAGTCCTTGAGCTTCATCT	0.602																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(397-399)ctC>ctG		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							81	90	87					17																	7139847		1972	4152	6124	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139847G>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.399C>G	17.37:g.7139847G>C			Somatic				DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L	p.L133L	NM_024297	NP_077273	WXS	Illumina GAIIx	Phase_I	Q9BUL5	PHF23_HUMAN			3	626	-			133					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.399C>G	CCDS42250.1																																																																																				0.602	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		11	65	0	0	0	1	0	11	65					C	7139847	G	C	7139847	2	2	27	1	0	0	0	0	0	0	0	1	11835	1277	45	4		4	PHF23	17	7139847	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	217	7139847	74055363	31	605											
ALOX12B	242	broad.mit.edu	37	17	7977036	7977036	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7977036C>T	ENST00000319144.4	-	13	1954	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	565	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGTGACATATCGGATCAGCTC	0.622										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjy.1																			0		p.R565R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1693-1695)cGa>cAa		Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.							92	75	81					17																	7977036		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7977036C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1694G>A	17.37:g.7977036C>T	ENSP00000315167:p.Arg565Gln	Multiple Myeloma(8;0.094)	Somatic	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645		p.R565Q	NM_001139	NP_001130	WXS	Illumina GAIIx	Phase_I	O75342	LX12B_HUMAN			12	1955	-			565			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1694G>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941563	0.34283	.	.	ENSG00000179477	ENST00000319144	D	0.89485	-2.52	5.08	3.85	0.44370	Lipoxygenase, C-terminal (3);	0.273257	0.32868	N	0.005552	T	0.76608	0.4011	N	0.17800	0.525	0.20074	N	0.999937	B	0.26809	0.16	B	0.19946	0.027	T	0.61212	-0.7108	10	0.21540	T	0.41	-1.2885	6.3715	0.21483	0.0:0.6434:0.0:0.3566	.	565	O75342	LX12B_HUMAN	Q	565	ENSP00000315167:R565Q	ENSP00000315167:R565Q	R	-	2	0	ALOX12B	7917761	0.700000	0.27796	0.998000	0.56505	0.946000	0.59487	1.081000	0.30791	0.803000	0.34113	0.650000	0.86243	CGA		0.622	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			3	20	0	0	0	1	0	3	20					T	7977036	C	T	7977036	3	4	27	1	0	0	0	0	1	0	0	0	537	884	31	1	423	1	ALOX12B	17	7977036	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	837189	7977036	73218174	32	606											
CREB3L3	84699	broad.mit.edu	37	19	4154971	4154971	+	Missense_Mutation	SNP	G	G	A	rs201474344		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:4154971G>A	ENST00000078445.2	+	2	250	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CREB3L3_ENST00000602147.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G26S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G35S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G35S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	35					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGGACGGCATCCTGAG	0.637																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(103-105)Ggc>Agc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	96	84	88		103	5.2	0.9	19		88	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	35/462	4154971	2,13004	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4154971G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.103G>A	19.37:g.4154971G>A	ENSP00000078445:p.Gly35Ser		Somatic				CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S	p.G35S	NM_032607	NP_115996	WXS	Illumina GAIIx	Phase_I	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	1	219	+			35					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.103G>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674006	0.67928	4.54E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.91686	-2.89;-2.89	5.18	5.18	0.71444	.	0.057246	0.64402	D	0.000001	D	0.94785	0.8316	M	0.72894	2.215	0.37460	D	0.915194	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;P;P;P	0.91635	0.999;0.757;0.877;0.757	D	0.93625	0.6951	10	0.16420	T	0.52	-9.6483	14.2452	0.65983	0.0:0.0:1.0:0.0	.	35;35;35;35	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	35;35;26	ENSP00000078445:G35S;ENSP00000252587:G26S	ENSP00000078445:G35S	G	+	1	0	CREB3L3	4105971	1.000000	0.71417	0.897000	0.35233	0.238000	0.25445	5.804000	0.69135	2.428000	0.82296	0.306000	0.20318	GGC		0.637	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		26	63	0	0	0	1	0	26	63					A	4154971	G	A	4154971	3	1	27	1	0	0	0	0	1	0	0	0	3858	1116	39	1	109	1	CREB3L3	19	4154971	Missense_Mutation	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		4154971	54974012	33	607											
C19orf39	126074	broad.mit.edu	37	19	11486194	11486194	+	Silent	SNP	C	C	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:11486194C>A	ENST00000312423.2	+	2	251	c.192C>A	c.(190-192)atC>atA	p.I64I	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	64					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										TCTAGAAGATCCGCTTCCAGT	0.587																																						uc002mrg.1																			0											c.(190-192)atC>atA		Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.							115	135	128					19																	11486194		2202	4298	6500	SO:0001819	synonymous_variant	126074							g.chr19:11486194C>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"zinc finger, SWIM-type containing 7 associated protein 1", "SWS1-associated protein 1"	614536	"chromosome 19 open reading frame 39"	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.192C>A	19.37:g.11486194C>A			Somatic					p.I64I	NM_175871	NP_787067	WXS	Illumina GAIIx	Phase_I	Q6NVH7	CS039_HUMAN			1	229	+			64					Q8NAM1	Silent	SNP	ENST00000312423.2	37	c.192C>A	CCDS12259.1																																																																																				0.587	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		80	134	0	0	0	1	0	80	134					A	11486194	C	A	11486194	2	1	27	1	0	0	0	0	0	0	0	1	1922	845	30	4		4	C19orf39	19	11486194	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7331223	11486194	47642789	34	608											
MYO9B	4650	broad.mit.edu	37	19	17313022	17313022	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17313022G>A	ENST00000594824.1	+	28	4893	c.4746G>A	c.(4744-4746)caG>caA	p.Q1582Q	MYO9B_ENST00000397274.2_Silent_p.Q1582Q|MYO9B_ENST00000595618.1_Silent_p.Q1582Q			Q13459	MYO9B_HUMAN	myosin IXB	1582	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGTGGCCAGAAGGACACCA	0.562																																						uc010eak.3																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4744-4746)caG>caA		Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.							42	45	44					19																	17313022		2013	4181	6194	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity	g.chr19:17313022G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4746G>A	19.37:g.17313022G>A			Somatic				MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q	p.Q1582Q	NM_004145	NP_004136	WXS	Illumina GAIIx	Phase_I	Q13459	MYO9B_HUMAN			27	4898	+			1582			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.4746G>A																																																																																					0.562	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	12	0	0	0	1	0	5	12					A	17313022	G	A	17313022	2	1	27	1	0	0	0	0	0	0	0	1	10085	933	33	2		2	MYO9B	19	17313022	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	5826828	17313022	41815961	35	609											
UNC13A	23025	broad.mit.edu	37	19	17756912	17756912	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17756912C>T	ENST00000519716.2	-	18	2052	c.2053G>A	c.(2053-2055)Gcc>Acc	p.A685T	UNC13A_ENST00000428389.2_Missense_Mutation_p.A773T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A683T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A685T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A685T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A685T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	685	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557																																						uc021uqk.1																			1	Substitution - Missense(1)	p.A685T(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2050-2052)Gcc>Acc		Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.							67	66	66					19																	17756912		2078	4249	6327	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756912C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2053G>A	19.37:g.17756912C>T	ENSP00000429562:p.Ala685Thr		Somatic					p.A684T	NM_001080421	NP_001073890	WXS	Illumina GAIIx	Phase_I	Q9UPW8	UN13A_HUMAN			17	2092	-			685			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2050G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052219	0.75960	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.47	3.47	0.39725	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	D	0.93598	0.7956	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94841	0.8005	10	0.87932	D	0	-20.1126	12.8397	0.57794	0.0:1.0:0.0:0.0	.	685	Q9UPW8	UN13A_HUMAN	T	685;773;685;685;685;683	ENSP00000429562:A685T;ENSP00000400409:A773T;ENSP00000252773:A685T;ENSP00000447236:A685T;ENSP00000447572:A685T;ENSP00000446831:A683T	ENSP00000252773:A685T	A	-	1	0	UNC13A	17617912	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	7.595000	0.82710	1.688000	0.51068	0.306000	0.20318	GCC		0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	23	0	0	0	1	0	5	23					T	17756912	C	T	17756912	3	4	27	1	0	0	0	0	1	0	0	0	16981	768	27	1	3162	1	UNC13A	19	17756912	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	443890	17756912	41372071	36	610											
SIRT2	22933	broad.mit.edu	37	19	39370317	39370317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:39370317delA	ENST00000249396.7	-	14	1203	c.902delT	c.(901-903)atgfs	p.M301fs	RINL_ENST00000340740.3_5'Flank|SIRT2_ENST00000392081.2_Frame_Shift_Del_p.M264fs|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000358931.5_Intron|RINL_ENST00000598904.1_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	301	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCGAGGCCCATAATCATCCC	0.652																																						uc002ojt.2																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(901-903)atgfs		Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.							13	12	13					19																	39370317		2197	4295	6492	SO:0001589	frameshift_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39370317delA	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.902delT	19.37:g.39370317delA	ENSP00000249396:p.Met301fs		Somatic				RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs	p.M301fs	NM_012237	NP_085096	WXS	Illumina GAIIx	Phase_I	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		13	1243	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		301			Deacetylase sirtuin-type.		A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Frame_Shift_Del	DEL	ENST00000249396.7	37	c.902delT	CCDS12523.1																																																																																				0.652	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			2	4						2	4	---	---	---	---	-	39370317	A	-	39370317	7	5	27	1	0	1	0	1	0	0	0	0	14338	217	8	0	279	0	SIRT2	19	39370317	Frame_Shift_Del	DEL	A	TCGA-BJ-A2NA-01A-12D-A19J-08	21613405	39370317	19758666	37	611											
PPFIA3	8541	broad.mit.edu	37	19	49651468	49651468	+	Silent	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:49651468C>T	ENST00000334186.4	+	24	3313	c.2964C>T	c.(2962-2964)aaC>aaT	p.N988N	PPFIA3_ENST00000602351.1_Silent_p.N979N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	988	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCACCTTAACAAGAAGGAGC	0.612																																						uc002pmr.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2962-2964)aaC>aaT		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.							48	47	48					19																	49651468		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49651468C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2964C>T	19.37:g.49651468C>T			Somatic				PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N	p.N988N	NM_003660	NP_003651	WXS	Illumina GAIIx	Phase_I	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	23	3296	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	988			SAM 2.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.2964C>T	CCDS12758.1																																																																																				0.612	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		8	30	0	0	0	1	0	8	30					T	49651468	C	T	49651468	2	4	27	1	0	0	0	0	0	0	0	1	12311	477	17	2		2	PPFIA3	19	49651468	Silent	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	10281151	49651468	9477515	38	612											
ZSCAN5B	342933	broad.mit.edu	37	19	56701879	56701879	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:56701879C>T	ENST00000586855.2	-	5	1118	c.805G>A	c.(805-807)Gac>Aac	p.D269N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D269N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	269					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(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGTGTGTCAGCATCCACA	0.502																																						uc010ygh.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(805-807)Gac>Aac		Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.							124	121	122					19																	56701879		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701879C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.805G>A	19.37:g.56701879C>T	ENSP00000466072:p.Asp269Asn		Somatic					p.D269N	NM_001080456	NP_001073925	WXS	Illumina GAIIx	Phase_I	A6NJL1	ZSA5B_HUMAN			3	805	-			269						Missense_Mutation	SNP	ENST00000586855.2	37	c.805G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347857	0.41599	.	.	ENSG00000197213	ENST00000358992	T	0.05717	3.4	1.86	1.86	0.25419	.	.	.	.	.	T	0.17959	0.0431	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	D	0.77004	0.989	T	0.15122	-1.0448	9	0.16420	T	0.52	.	7.274	0.26273	0.0:1.0:0.0:0.0	.	269	A6NJL1	ZSA5B_HUMAN	N	269	ENSP00000351883:D269N	ENSP00000351883:D269N	D	-	1	0	ZSCAN5B	61393691	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	0.399000	0.20916	1.356000	0.45884	0.306000	0.20318	GAC		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		24	111	0	0	0	1	0	24	111					T	56701879	C	T	56701879	3	4	27	1	0	0	0	0	1	0	0	0	18236	826	29	2	686	2	ZSCAN5B	19	56701879	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	7050411	56701879	2427104	39	613											
RASD2	23551	broad.mit.edu	37	22	35947855	35947855	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:35947855C>T	ENST00000216127.4	+	3	1219	c.577C>T	c.(577-579)Cca>Tca	p.P193S		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	193	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGCCAAGCTGCCACACGAGAT	0.612																																						uc003anx.3																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(577-579)Cca>Tca		Homo sapiens RASD family, member 2 (RASD2), mRNA.							115	81	93					22																	35947855		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947855C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"tumor endothelial marker 2", "Ras homolog enriched in striatum"	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.577C>T	22.37:g.35947855C>T	ENSP00000216127:p.Pro193Ser		Somatic				RASD2_uc003any.3_Missense_Mutation_p.P193S	p.P193S	NM_014310	NP_055125	WXS	Illumina GAIIx	Phase_I	Q96D21	RHES_HUMAN			2	782	+			193			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.577C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468382	0.96274	.	.	ENSG00000100302	ENST00000216127	T	0.72051	-0.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82456	-0.0448	10	0.54805	T	0.06	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	193	Q96D21	RHES_HUMAN	S	193	ENSP00000216127:P193S	ENSP00000216127:P193S	P	+	1	0	RASD2	34277801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.724000	0.84798	2.709000	0.92574	0.561000	0.74099	CCA		0.612	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		3	34	0	0	0	1	0	3	34					T	35947855	C	T	35947855	3	4	27	1	0	0	0	0	1	0	0	0	13067	739	26	2	583	2	RASD2	22	35947855	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08		35947855	15356711	40	614											
TYMP	1890	broad.mit.edu	37	22	50967746	50967746	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:50967746C>A	ENST00000252029.3	-	3	398	c.236G>T	c.(235-237)cGa>cTa	p.R79L	TYMP_ENST00000395681.1_Missense_Mutation_p.R79L|SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Missense_Mutation_p.R79L|TYMP_ENST00000395680.1_Missense_Mutation_p.R79L	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	79					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GCCCCGAAGTCGGATGGCCAT	0.692																																						uc003bme.4																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(235-237)cGa>cTa		Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						40	41	41					22																	50967746		2203	4298	6501	SO:0001583	missense	1890				DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967746C>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.236G>T	22.37:g.50967746C>A	ENSP00000252029:p.Arg79Leu		Somatic				SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L	p.R79L	NM_001953	NP_001944	WXS	Illumina GAIIx	Phase_I	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	428	-		all_cancers(38;4.58e-14)|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)	79					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.236G>T	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	9.085	1.000211	0.19121	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.76	3.73	0.42828	Glycosyl transferase, family 3, N-terminal (2);Glycosyl transferase, family 3, subgroup, N-terminal (1);	0.155014	0.46145	D	0.000307	D	0.88157	0.6361	N	0.20685	0.6	0.46044	D	0.998832	P;P;P;P	0.52170	0.951;0.907;0.907;0.907	B;B;B;B	0.40602	0.334;0.236;0.236;0.236	D	0.87543	0.2460	10	0.66056	D	0.02	-8.504	10.6052	0.45390	0.0:0.9036:0.0:0.0964	.	79;79;79;79	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	L	79	ENSP00000379037:R79L;ENSP00000379038:R79L;ENSP00000252029:R79L;ENSP00000379036:R79L;ENSP00000395875:R79L	ENSP00000252029:R79L	R	-	2	0	TYMP	49314612	0.994000	0.37717	0.836000	0.33094	0.324000	0.28378	2.403000	0.44530	0.992000	0.38840	0.462000	0.41574	CGA		0.692	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		13	26	0	0	0	1	0	13	26					A	50967746	C	A	50967746	3	1	27	1	0	0	0	0	1	0	0	0	16808	884	31	4	1244	4	TYMP	22	50967746	Missense_Mutation	SNP	C	TCGA-BJ-A2NA-01A-12D-A19J-08	15019891	50967746	336820	41	615											
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:100547854G>A	ENST00000372907.3	-	1	191	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_De_novo_Start_OutOfFrame	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	60					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.3																			0		p.A59A(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(178-180)gaC>gaT		Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.							119	116	117					X																	100547854		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547854G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.180C>T	X.37:g.100547854G>A			Somatic				TAF7L_uc004ehc.2_5'Flank	p.D60D	NM_024885	NP_001161946	WXS	Illumina GAIIx	Phase_I	Q5H9L4	TAF7L_HUMAN			0	206	-			60					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.180C>T	CCDS35347.1																																																																																				0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			65	27	0	0	0	1	0	65	27					A	100547854	G	A	100547854	2	1	27	1	0	0	0	0	0	0	0	1	15530	1136	40	1		1	TAF7L	23	100547854	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08		100547854	54722706	42	616											
PNCK	139728	broad.mit.edu	37	X	152937598	152937598	+	Silent	SNP	G	G	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:152937598G>A	ENST00000370150.1	-	4	436	c.258C>T	c.(256-258)ctC>ctT	p.L86L	PNCK_ENST00000370145.4_Silent_p.L103L|PNCK_ENST00000447676.2_Silent_p.L169L|PNCK_ENST00000370142.1_Silent_p.L86L|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Silent_p.L86L|PNCK_ENST00000393831.2_Silent_p.L86L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L86L(1)|p.L103L(1)|p.L115L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGTAGAGGTGGGAAG	0.637																																						uc011myu.2																			3	Substitution - coding silent(3)	p.L86L(1)|p.L103L(1)|p.L115L(1)	breast(3)	breast(2)|lung(3)|skin(1)	6						c.(505-507)ctC>ctT		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							95	70	79					X																	152937598		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937598G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.258C>T	X.37:g.152937598G>A			Somatic				PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L	p.L169L	NM_001039582	NP_001034671	WXS	Illumina GAIIx	Phase_I	Q6P2M8	KCC1B_HUMAN			3	693	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		86			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.507C>T		.	.	.	.	.	.	.	.	.	.	g	13.13	2.146238	0.37923	.	.	ENSG00000130822	ENST00000418241	T	0.52295	0.67	5.01	-3.36	0.04913	.	.	.	.	.	T	0.49150	0.1540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53201	-0.8472	6	0.87932	D	0	-15.5739	6.7283	0.23369	0.1524:0.5789:0.1666:0.1021	.	.	.	.	F	93	ENSP00000411267:S93F	ENSP00000391264:S76F	S	-	2	0	PNCK	152590792	0.316000	0.24580	0.856000	0.33681	0.891000	0.51852	-0.357000	0.07651	-0.966000	0.03587	-1.192000	0.01694	TCT		0.637	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		6	22	0	0	0	1	0	6	22					A	152937598	G	A	152937598	2	1	27	1	0	0	0	0	0	0	0	1	12145	929	33	2		2	PNCK	23	152937598	Silent	SNP	G	TCGA-BJ-A2NA-01A-12D-A19J-08	52389744	152937598	2332962	43	617											
CACHD1	57685	broad.mit.edu	37	1	65113681	65113681	+	Missense_Mutation	SNP	G	G	A	rs201086698		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:65113681G>A	ENST00000371073.2	+	9	1354	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V401I			Q5VU97	CAHD1_HUMAN	cache domain containing 1	452					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						TGATGAAGCCGTCTTCAGCCT	0.488																																						uc001dbo.1																			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.(1201-1203)Gtc>Atc		Homo sapiens cache domain containing 1 (CACHD1), mRNA.							69	58	61					1																	65113681		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65113681G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1354G>A	1.37:g.65113681G>A	ENSP00000360113:p.Val452Ile		Somatic				CACHD1_uc001dbp.1_Missense_Mutation_p.V156I|CACHD1_uc001dbq.1_Missense_Mutation_p.V156I	p.V401I	NM_020925	NP_065976	WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			8	1306	+			452			VWFA.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1201G>A		.	.	.	.	.	.	.	.	.	.	G	10.12	1.261791	0.23051	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24151	1.87;1.88	5.38	5.38	0.77491	.	0.222920	0.47093	D	0.000253	T	0.06735	0.0172	N	0.08118	0	0.43330	D	0.995369	B	0.28208	0.203	B	0.20184	0.028	T	0.19778	-1.0295	10	0.17832	T	0.49	-27.9678	19.1392	0.93441	0.0:0.0:1.0:0.0	.	452	Q5VU97	CAHD1_HUMAN	I	452;401	ENSP00000360113:V452I;ENSP00000290039:V401I	ENSP00000290039:V401I	V	+	1	0	CACHD1	64886269	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	4.695000	0.61767	2.512000	0.84698	0.561000	0.74099	GTC		0.488	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		3	26	0	0	0	1	0	3	26					A	65113681	G	A	65113681	3	1	28	1	0	0	0	0	1	0	0	0	2537	1145	40	1	1235	1	CACHD1	1	65113681	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		65113681	184136940	1	618											
ADCY10	55811	broad.mit.edu	37	1	167829094	167829094	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr1:167829094A>G	ENST00000367851.4	-	16	2031	c.1847T>C	c.(1846-1848)tTg>tCg	p.L616S	ADCY10_ENST00000367848.1_Missense_Mutation_p.L524S|ADCY10_ENST00000545172.1_Missense_Mutation_p.L463S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	616					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGCTTTTTCAAGGTGCTCAT	0.393																																						uc001ger.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1846-1848)tTg>tCg		Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.							157	163	161					1																	167829094		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	g.chr1:167829094A>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1847T>C	1.37:g.167829094A>G	ENSP00000356825:p.Leu616Ser		Somatic				ADCY10_uc010plj.2_Missense_Mutation_p.L463S|ADCY10_uc009wvk.3_Missense_Mutation_p.L524S|ADCY10_uc009wvl.3_Missense_Mutation_p.L615S	p.L616S	NM_018417	NP_001161221	WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			15	2145	-			616					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1847T>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	0.150	-1.092873	0.01858	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.62498	0.02;0.02;0.02	5.4	-5.73	0.02398	.	1.525520	0.03594	N	0.232275	T	0.22244	0.0536	L	0.43152	1.355	0.24027	N	0.996124	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.15052	0.012;0.005;0.002	T	0.04678	-1.0934	9	0.07990	T	0.79	0.7408	7.3024	0.26428	0.4131:0.0:0.4646:0.1223	.	463;524;616	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	463;616;524	ENSP00000441992:L463S;ENSP00000356825:L616S;ENSP00000356822:L524S	ENSP00000356822:L524S	L	-	2	0	ADCY10	166095718	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.138000	0.10374	-0.823000	0.04301	-0.912000	0.02778	TTG		0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		4	174	0	0	0	1	0	4	174					G	167829094	A	G	167829094	3	3	28	1	0	0	0	0	1	0	0	0	293	131	5	3	3057	3	ADCY10	1	167829094	Missense_Mutation	SNP	A	TCGA-BJ-A2P4-01A-11D-A18F-08	102715413	167829094	81421527	2	619											
POLR1B	84172	broad.mit.edu	37	2	113332659	113332661	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:113332659_113332661delCCA	ENST00000263331.5	+	15	3341_3343	c.2761_2763delCCA	c.(2761-2763)ccadel	p.P921del	POLR1B_ENST00000417433.2_In_Frame_Del_p.P865del|POLR1B_ENST00000541869.1_In_Frame_Del_p.P959del|POLR1B_ENST00000409894.3_In_Frame_Del_p.P738del|POLR1B_ENST00000537335.1_In_Frame_Del_p.P710del	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	921					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						CCATGGTTTTCCATCCCGCATGA	0.507																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2																			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.(2761-2763)ccadel		Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	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.chr2:113332659_113332661delCCA	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2761_2763delCCA	2.37:g.113332659_113332661delCCA	ENSP00000263331:p.Pro921del		Somatic				POLR1B_uc010fkn.2_In_Frame_Del_p.P865del|POLR1B_uc002thx.2_In_Frame_Del_p.P782del|POLR1B_uc010fko.2_In_Frame_Del_p.P738del|POLR1B_uc010fkp.2_In_Frame_Del_p.P360del|POLR1B_uc002thy.2_In_Frame_Del_p.P782del|POLR1B_uc010yxo.1_In_Frame_Del_p.P698del	p.P921del	NM_019014	NP_061887	WXS	Illumina GAIIx	Phase_I	Q9H9Y6	RPA2_HUMAN			14	3341_3343	+			921					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	In_Frame_Del	DEL	ENST00000263331.5	37	c.2761_2763delCCA	CCDS2097.1																																																																																				0.507	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		40	88						40	88	---	---	---	---	-	113332661	CCA	-	113332659	7	5	28	1	0	1	0	1	0	0	0	0	12210	855	30	0	2819	0	POLR1B	2	113332659	In_Frame_Del	DEL	CCA	TCGA-BJ-A2P4-01A-11D-A18F-08		113332659	129866714	3	620											
LCT	3938	broad.mit.edu	37	2	136567521	136567521	+	Missense_Mutation	SNP	C	C	T	rs565990613		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr2:136567521C>T	ENST00000264162.2	-	8	2406	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	799	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AATGAGGGAACGAGCAATGTA	0.438													C|||	1	0.000199681	0	0	5008	,	,		19434	0		0	False		,,,				2504	0.001					uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2395-2397)cGt>cAt		Homo sapiens lactase (LCT), mRNA.							57	58	58					2																	136567521		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567521C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2396G>A	2.37:g.136567521C>T	ENSP00000264162:p.Arg799His		Somatic					p.R799H	NM_002299	NP_002290	WXS	Illumina GAIIx	Phase_I	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2407	-			799			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2396G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378574	0.61735	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.50277	0.75	5.71	4.82	0.62117	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.182021	0.49916	D	0.000124	T	0.64832	0.2634	M	0.70595	2.14	0.46167	D	0.998908	D	0.67145	0.996	D	0.65987	0.94	T	0.63466	-0.6631	10	0.44086	T	0.13	-15.3064	14.4898	0.67642	0.0:0.9297:0.0:0.0703	.	799	P09848	LPH_HUMAN	H	799;231	ENSP00000264162:R799H	ENSP00000264162:R799H	R	-	2	0	LCT	136283991	0.998000	0.40836	1.000000	0.80357	0.675000	0.39556	2.829000	0.48128	2.868000	0.98415	0.557000	0.71058	CGT		0.438	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		23	47	0	0	0	1	0	23	47					T	136567521	C	T	136567521	3	4	28	1	0	0	0	0	1	0	0	0	8693	536	19	1	3427	1	LCT	2	136567521	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	23234862	136567521	106631852	4	621											
AP3B1	8546	broad.mit.edu	37	5	77452179	77452179	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:77452179G>C	ENST00000255194.6	-	14	1551	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G	AP3B1_ENST00000519295.1_Missense_Mutation_p.A410G	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	459					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)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACACTTTCAGCAACAACTAT	0.294									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1375-1377)gCt>gGt		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							116	113	114					5																	77452179		2202	4299	6501	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452179G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1376C>G	5.37:g.77452179G>C	ENSP00000255194:p.Ala459Gly		Somatic					p.A459G	NM_003664	NP_003655	WXS	Illumina GAIIx	Phase_I	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	13	1501	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	459					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1376C>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798016	0.70567	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.27720	1.65;1.65	5.38	5.38	0.77491	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	L	0.45352	1.415	0.80722	D	1	B	0.23990	0.095	B	0.28011	0.085	T	0.06285	-1.0835	10	0.45353	T	0.12	-20.4636	19.4893	0.95044	0.0:0.0:1.0:0.0	.	459	O00203	AP3B1_HUMAN	G	459;410;459;363	ENSP00000255194:A459G;ENSP00000430597:A410G	ENSP00000255194:A459G	A	-	2	0	AP3B1	77487935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.676000	0.91093	0.563000	0.77884	GCT		0.294	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			27	43	0	0	0	1	0	27	43					C	77452179	G	C	77452179	3	2	28	1	0	0	0	0	1	0	0	0	744	971	34	4	1964	4	AP3B1	5	77452179	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		77452179	103463081	5	622											
PCDHB6	56130	broad.mit.edu	37	5	140531461	140531461	+	Missense_Mutation	SNP	C	C	A	rs61730259	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr5:140531461C>A	ENST00000231136.1	+	1	1623	c.1623C>A	c.(1621-1623)agC>agA	p.S541R	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S405R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.682																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1621-1623)agC>agA		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							50	57	54					5																	140531461		2202	4299	6501	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531461C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1623C>A	5.37:g.140531461C>A	ENSP00000231136:p.Ser541Arg		Somatic					p.S541R	NM_018939	NP_061762	WXS	Illumina GAIIx	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1623	+			541			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1623C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216834	0.58452	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.54866	0.55;0.55	4.19	4.19	0.49359	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.75759	0.3893	M	0.93420	3.415	0.29907	N	0.823909	D	0.71674	0.998	D	0.78314	0.991	T	0.73658	-0.3913	9	0.72032	D	0.01	.	6.846	0.23988	0.1755:0.7348:0.0:0.0897	rs61730259	541	Q9Y5E3	PCDB6_HUMAN	R	405;541;326	ENSP00000438466:S405R;ENSP00000231136:S541R	ENSP00000231136:S541R	S	+	3	2	PCDHB6	140511645	0.003000	0.15002	1.000000	0.80357	0.941000	0.58515	0.271000	0.18626	2.047000	0.60756	0.556000	0.70494	AGC		0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		3	102	0	0	0	1	0	3	102					A	140531461	C	A	140531461	3	1	28	1	0	0	0	0	1	0	0	0	11546	767	27	4	1625	4	PCDHB6	5	140531461	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	63079282	140531461	40383799	6	623											
MUC17	140453	broad.mit.edu	37	7	100679466	100679466	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr7:100679466C>A	ENST00000306151.4	+	3	4833	c.4769C>A	c.(4768-4770)gCt>gAt	p.A1590D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1590	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)					AGTTCTGAGGCTAACACCCTT	0.488																																						uc003uxp.1																			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.(4768-4770)gCt>gAt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							245	231	236					7																	100679466		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679466C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4769C>A	7.37:g.100679466C>A	ENSP00000302716:p.Ala1590Asp		Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.A1590D	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	4822	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1590			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4769C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.645	-0.515478	0.04200	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.815	-0.289	0.12851	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.31686	0.134	T	0.46233	-0.9206	9	0.15499	T	0.54	.	3.3888	0.07281	0.0:0.6743:0.0:0.3257	.	1590	Q685J3	MUC17_HUMAN	D	1590	ENSP00000302716:A1590D	ENSP00000302716:A1590D	A	+	2	0	MUC17	100466186	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.101000	0.03336	-0.071000	0.12886	0.089000	0.15464	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		83	173	0	0	0	1	0	83	173					A	100679466	C	A	100679466	3	1	28	1	0	0	0	0	1	0	0	0	9974	797	28	4	4779	4	MUC17	7	100679466	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		100679466	58459197	7	624											
SLA	6503	broad.mit.edu	37	8	134062170	134062170	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr8:134062170T>C	ENST00000338087.5	-	5	1044	c.225A>G	c.(223-225)atA>atG	p.I75M	SLA_ENST00000517648.1_Missense_Mutation_p.I92M|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_De_novo_Start_InFrame|SLA_ENST00000427060.2_Missense_Mutation_p.I115M|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.I92M|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	75	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGCCACACATATTCCAGGGA	0.448																																						uc011ljd.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(343-345)atA>atG		Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.							146	122	130					8																	134062170		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134062170T>C		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.225A>G	8.37:g.134062170T>C	ENSP00000337548:p.Ile75Met		Somatic				TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.I75M|SLA_uc011lje.2_Missense_Mutation_p.I92M|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Missense_Mutation_p.I92M|SLA_uc010mdy.1_Missense_Mutation_p.I75M|SLA_uc010mdz.1_Missense_Mutation_p.I75M|SLA_uc010mea.2_Non-coding_Transcript	p.I115M	NM_006748	NP_006739	WXS	Illumina GAIIx	Phase_I	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		2	423	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	75			SH2.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.345A>G	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483787	0.44147	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341	T;T;T;D;D;T	0.92446	-1.1;-1.04;-1.04;-3.04;-3.04;1.3	5.65	-5.65	0.02459	Src homology-3 domain (3);	0.280041	0.45867	N	0.000333	T	0.80253	0.4589	N	0.19112	0.55	0.25246	N	0.989716	B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.0;0.0;0.003	B;B;B;B;B;B	0.08055	0.003;0.002;0.003;0.0;0.002;0.002	T	0.65594	-0.6130	10	0.48119	T	0.1	-10.0352	7.3237	0.26542	0.0:0.248:0.4556:0.2964	.	92;75;75;75;75;75	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	M	75;115;92;92;75;75	ENSP00000337548:I75M;ENSP00000394049:I115M;ENSP00000378759:I92M;ENSP00000428559:I92M;ENSP00000430596:I75M;ENSP00000429681:I75M	ENSP00000337548:I75M	I	-	3	3	SLA	134131352	0.971000	0.33674	0.908000	0.35775	0.940000	0.58332	-0.038000	0.12144	-0.870000	0.04047	-0.313000	0.08912	ATA		0.448	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			22	33	0	0	0	1	0	22	33					C	134062170	T	C	134062170	3	2	28	1	0	0	0	0	1	0	0	0	14363	1396	49	3	625	3	SLA	8	134062170	Missense_Mutation	SNP	T	TCGA-BJ-A2P4-01A-11D-A18F-08		134062170	12301852	8	625											
TMEM38B	55151	broad.mit.edu	37	9	108510354	108510354	+	Splice_Site	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr9:108510354C>T	ENST00000374692.3	+	5	660	c.543C>T	c.(541-543)taC>taT	p.Y181Y	TMEM38B_ENST00000374688.1_Splice_Site_p.Y127Y	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	181						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTATTTTCAGCCCTGCCAAGG	0.363																																						uc004bcu.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.e5-1		Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.							82	77	78					9																	108510354		2203	4300	6503	SO:0001630	splice_region_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108510354C>T	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.543-1C>T	9.37:g.108510354C>T			Somatic				TMEM38B_uc010mtn.1_Intron	p.Y181_splice	NM_018112	NP_060582	WXS	Illumina GAIIx	Phase_I	Q9NVV0	TM38B_HUMAN			5	660	+			181					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Splice_Site	SNP	ENST00000374692.3	37	c.543_splice	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.19|12.19	1.862475|1.862475	0.32884|0.32884	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034	.|.	.|.	.|.	5.57|5.57	3.36|3.36	0.38483|0.38483	.|.	.|.	.|.	.|.	.|.	T|T	0.57417|0.57417	0.2052|0.2052	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.54255|0.54255	-0.8321|-0.8321	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.0:0.7759:0.0:0.2241|0.0:0.7759:0.0:0.2241	.|.	.|.	.|.	.|.	S|I	42|118	.|.	.|.	P|T	+|+	1|2	0|0	TMEM38B|TMEM38B	107550175|107550175	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.236000|0.236000	0.17967|0.17967	1.486000|1.486000	0.48398|0.48398	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.363	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112	Silent	4	58	0	0	0	1	0	4	58					T	108510354	C	T	108510354	5	4	28	1	0	0	0	0	0	0	1	0	16157	753	26	2	561	2	TMEM38B	9	108510354	Splice_Site	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		108510354	32703077	9	626											
GPRIN2	9721	broad.mit.edu	37	10	46999058	46999058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr10:46999058C>T	ENST00000374317.1	+	3	451	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GPRIN2_ENST00000374314.4_Nonsense_Mutation_p.Q60*	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	60										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACCAGACCCCAGGCCCCGGA	0.701																																						uc001jec.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(178-180)Cag>Tag		Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.							29	37	34					10																	46999058		2200	4293	6493	SO:0001587	stop_gained	9721							g.chr10:46999058C>T	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.178C>T	10.37:g.46999058C>T	ENSP00000363436:p.Gln60*		Somatic				GPRIN2_uc021ppt.1_Nonsense_Mutation_p.Q60*	p.Q60*	NM_014696	NP_055511	WXS	Illumina GAIIx	Phase_I	O60269	GRIN2_HUMAN			2	313	+			60					Q5SVF0	Nonsense_Mutation	SNP	ENST00000374317.1	37	c.178C>T	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	40	8.441494	0.98813	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	.	.	.	5.64	1.24	0.21308	.	1.100880	0.07001	N	0.823335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-0.1473	4.7021	0.12832	0.135:0.4503:0.3315:0.0833	.	.	.	.	X	60	.	ENSP00000363433:Q60X	Q	+	1	0	GPRIN2	46419064	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.133000	0.15912	0.337000	0.23665	0.650000	0.86243	CAG		0.701	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		12	54	0	0	0	1	0	12	54					T	46999058	C	T	46999058	4	4	28	1	0	0	0	0	0	1	0	0	6730	595	21	2	180	2	GPRIN2	10	46999058	Nonsense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		46999058	88535689	10	627											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		33	53	0	0	0	1	0	33	53					C	533874	T	C	533874	3	2	28	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A2P4-01A-11D-A18F-08		533874	134472642	11	628											
FLI1	2313	broad.mit.edu	37	11	128642762	128642762	+	Silent	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr11:128642762C>T	ENST00000527786.2	+	4	960	c.471C>T	c.(469-471)tcC>tcT	p.S157S	FLI1_ENST00000525560.1_Intron|FLI1_ENST00000344954.6_Silent_p.S124S|FLI1_ENST00000534087.2_Silent_p.S124S|FLI1_ENST00000281428.8_Silent_p.S91S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	157	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCGACACATCCTTTTTCCAGA	0.522			T	EWSR1	Ewing sarcoma																																	uc010sbu.2				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0		p.T156I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(469-471)tcC>tcT		Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.							210	218	215					11																	128642762		2118	4237	6355	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642762C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.471C>T	11.37:g.128642762C>T			Somatic				FLI1_uc010sbt.2_Intron|FLI1_uc010sbv.2_Silent_p.S124S|FLI1_uc009zci.3_Silent_p.S91S	p.S157S	NM_002017	NP_001161153	WXS	Illumina GAIIx	Phase_I	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	3	814	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	157			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.471C>T	CCDS44768.1																																																																																				0.522	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		4	172	0	0	0	1	0	4	172					T	128642762	C	T	128642762	2	4	28	1	0	0	0	0	0	0	0	1	5924	668	24	2		2	FLI1	11	128642762	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	128108888	128642762	6363754	12	629											
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr12:18891209C>A	ENST00000317658.3	+	1	165	c.7C>A	c.(7-9)Ctt>Att	p.L3I	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438																																						uc001rdy.3																			1	Substitution - Missense(1)	p.L3V(2)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)Ctt>Att		Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.							82	80	80					12																	18891209		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891209C>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.7C>A	12.37:g.18891209C>A	ENSP00000326238:p.Leu3Ile		Somatic				PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	p.L3I	NM_033328	NP_201585	WXS	Illumina GAIIx	Phase_I	Q96KX2	CAZA3_HUMAN			0	165	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.7C>A	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214819	0.22373	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.31	4.35	0.52113	.	0.466123	0.19910	N	0.103315	T	0.22704	0.0548	N	0.08118	0	0.18873	N	0.999987	B	0.20052	0.041	B	0.16722	0.016	T	0.08659	-1.0711	9	0.40728	T	0.16	-9.6728	10.264	0.43445	0.2104:0.7896:0.0:0.0	.	3	Q96KX2	CAZA3_HUMAN	I	3	.	ENSP00000326238:L3I	L	+	1	0	CAPZA3	18782476	0.095000	0.21747	0.958000	0.39756	0.469000	0.32828	0.732000	0.26072	2.763000	0.94921	0.563000	0.77884	CTT		0.438	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		5	89	0	0	0	1	0	5	89					A	18891209	C	A	18891209	3	1	28	1	0	0	0	0	1	0	0	0	2642	565	20	4	9	4	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		18891209	114960686	13	630											
KIAA1409	57578	broad.mit.edu	37	14	94079271	94079271	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr14:94079271G>A	ENST00000393151.2	+	27	3883	c.3883G>A	c.(3883-3885)Gct>Act	p.A1295T	UNC79_ENST00000553484.1_Missense_Mutation_p.A1317T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1295T|UNC79_ENST00000256339.4_Missense_Mutation_p.A1118T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1295					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)				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						TGAAAGCAGCGCTGAGTCAGA	0.527																																						uc001ybv.1																			0				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.(3418-3420)Gct>Act		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							130	108	116					14																	94079271		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94079271G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3883G>A	14.37:g.94079271G>A	ENSP00000376858:p.Ala1295Thr		Somatic				UNC79_uc001ybs.1_Missense_Mutation_p.A1118T	p.A1140T	NM_020818	NP_065869	WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			24	3501	+			1295					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3418G>A		.	.	.	.	.	.	.	.	.	.	G	14.79	2.640753	0.47153	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18502	2.21;2.21;2.22;2.21	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.22421	0.69	0.54753	D	0.999987	D	0.89917	1.0	D	0.79108	0.992	T	0.03423	-1.1038	10	0.22706	T	0.39	-15.2766	19.5316	0.95231	0.0:0.0:1.0:0.0	.	1317	C9JQL1	.	T	1118;1295;1317;1295;1317	ENSP00000256339:A1118T;ENSP00000450868:A1295T;ENSP00000451360:A1317T;ENSP00000376858:A1295T	ENSP00000256339:A1118T	A	+	1	0	KIAA1409	93149024	1.000000	0.71417	0.702000	0.30337	0.788000	0.44548	7.863000	0.87023	2.617000	0.88574	0.650000	0.86243	GCT		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		22	38	0	0	0	1	0	22	38					A	94079271	G	A	94079271	3	1	28	1	0	0	0	0	1	0	0	0	8230	1087	38	1	3446	1	KIAA1409	14	94079271	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		94079271	13270269	14	631											
SF3B3	23450	broad.mit.edu	37	16	70569224	70569224	+	Silent	SNP	A	A	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr16:70569224A>T	ENST00000302516.5	+	6	937	c.726A>T	c.(724-726)tcA>tcT	p.S242S	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	242					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGGAGGGTCAGATGGTCCAA	0.448																																						uc002ezf.3																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(724-726)tcA>tcT		Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.							215	220	218					16																	70569224		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding	g.chr16:70569224A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.726A>T	16.37:g.70569224A>T			Somatic				SNORD111_uc002ezg.1_5'Flank	p.S242S	NM_012426	NP_036558	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			5	937	+		Ovarian(137;0.0694)	242					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.726A>T	CCDS10894.1																																																																																				0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		92	140	0	0	0	1	0	92	140					T	70569224	A	T	70569224	2	4	28	1	0	0	0	0	0	0	0	1	14152	175	7	5		5	SF3B3	16	70569224	Silent	SNP	A	TCGA-BJ-A2P4-01A-11D-A18F-08		70569224	19785529	15	632											
GIP	2695	broad.mit.edu	37	17	47039134	47039134	+	Missense_Mutation	SNP	G	G	A	rs369958190		TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr17:47039134G>A	ENST00000357424.2	-	4	405	c.305C>T	c.(304-306)gCc>gTc	p.A102V		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	102					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						AGCTTGACTGGCCAGCTCCAG	0.617																																						uc002iol.1																			0				lung(2)|skin(1)|stomach(1)	4						c.(304-306)gCc>gTc		Homo sapiens gastric inhibitory polypeptide (GIP), mRNA.		G	VAL/ALA	0,4406		0,0,2203	45	36	39		305	3.9	0.0	17		39	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	benign	102/154	47039134	1,13005	2203	4300	6503	SO:0001583	missense	2695				energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr17:47039134G>A		CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"Endogenous ligands"	4270	protein-coding gene	gene with protein product	"glucose-dependent insulinotropic polypeptide"	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.305C>T	17.37:g.47039134G>A	ENSP00000350005:p.Ala102Val		Somatic					p.A102V	NM_004123	NP_004114	WXS	Illumina GAIIx	Phase_I	P09681	GIP_HUMAN			3	403	-			102					Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	c.305C>T	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351952	0.41700	0.0	1.16E-4	ENSG00000159224	ENST00000357424	T	0.24151	1.87	4.83	3.87	0.44632	.	0.592602	0.15809	N	0.243562	T	0.18002	0.0432	L	0.29908	0.895	0.09310	N	1	B	0.20550	0.046	B	0.14578	0.011	T	0.13737	-1.0498	10	0.42905	T	0.14	-3.7723	8.6476	0.34016	0.1028:0.0:0.8972:0.0	.	102	P09681	GIP_HUMAN	V	102	ENSP00000350005:A102V	ENSP00000350005:A102V	A	-	2	0	GIP	44394133	0.341000	0.24801	0.028000	0.17463	0.001000	0.01503	2.333000	0.43912	1.256000	0.44068	0.655000	0.94253	GCC		0.617	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364044.1	NM_004123		3	27	0	0	0	1	0	3	27					A	47039134	G	A	47039134	3	1	28	1	0	0	0	0	1	0	0	0	6391	1203	42	2	168	2	GIP	17	47039134	Missense_Mutation	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		47039134	34156076	16	633											
ANKLE1	126549	broad.mit.edu	37	19	17394682	17394682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:17394682delT	ENST00000394458.3	+	5	1385	c.1109delT	c.(1108-1110)ctcfs	p.L370fs	ANKLE1_ENST00000433424.2_Frame_Shift_Del_p.L424fs|ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.L370fs|ANKLE1_ENST00000404085.1_Frame_Shift_Del_p.L392fs|ANKLE1_ENST00000594072.1_Frame_Shift_Del_p.L359fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	370	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTGAAGGGACTCCGAGCACTT	0.577																																						uc010xpn.1																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1270-1272)ctcfs		Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.							57	57	57					19																	17394682		2203	4300	6503	SO:0001589	frameshift_variant	126549					nuclear envelope		g.chr19:17394682delT	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1109delT	19.37:g.17394682delT	ENSP00000377971:p.Leu370fs		Somatic				ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Frame_Shift_Del_p.L370fs|ANKLE1_uc010eao.1_Frame_Shift_Del_p.L392fs|ANKLE1_uc002nfy.2_Frame_Shift_Del_p.L359fs|ANKLE1_uc002nfz.2_Frame_Shift_Del_p.L76fs	p.L424fs			WXS	Illumina GAIIx	Phase_I	Q8NAG6	ANKL1_HUMAN			4	1385	+			370					A8VU82|Q8N8J8	Frame_Shift_Del	DEL	ENST00000394458.3	37	c.1271delT	CCDS12354.2																																																																																				0.577	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		21	39						21	39	---	---	---	---	-	17394682	T	-	17394682	7	5	28	1	0	1	0	1	0	0	0	0	632	1551	54	0	1127	0	ANKLE1	19	17394682	Frame_Shift_Del	DEL	T	TCGA-BJ-A2P4-01A-11D-A18F-08		17394682	41734301	17	634											
PRODH2	58510	broad.mit.edu	37	19	36303117	36303117	+	Silent	SNP	C	C	T			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr19:36303117C>T	ENST00000301175.3	-	4	674	c.657G>A	c.(655-657)cgG>cgA	p.R219R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	219					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGAGGCCCCGTGACAGGT	0.647																																						uc002obx.1																			0		p.R219W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(655-657)cgG>cgA		Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.							53	58	56					19																	36303117		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303117C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.657G>A	19.37:g.36303117C>T			Somatic					p.R219R	NM_021232	NP_067055	WXS	Illumina GAIIx	Phase_I	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	675	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		219						Silent	SNP	ENST00000301175.3	37	c.657G>A	CCDS12478.1																																																																																				0.647	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		22	45	0	0	0	1	0	22	45					T	36303117	C	T	36303117	2	4	28	1	0	0	0	0	0	0	0	1	12549	610	22	2		2	PRODH2	19	36303117	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08	18908435	36303117	22825866	18	635											
DDX27	55661	broad.mit.edu	37	20	47845343	47845343	+	Silent	SNP	C	C	T	rs200539083	byFrequency	TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:47845343C>T	ENST00000371764.4	+	8	900	c.891C>T	c.(889-891)ccC>ccT	p.P297P	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	297	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCTAGTGCCCACCCGAGAGC	0.602																																						uc002xuh.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(889-891)ccC>ccT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.							81	82	82					20																	47845343		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47845343C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"DEAD-boxes"	15837	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.891C>T	20.37:g.47845343C>T			Somatic					p.P297P	NM_017895	NP_060365	WXS	Illumina GAIIx	Phase_I	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		7	952	+			297			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.891C>T	CCDS13416.1																																																																																				0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			46	42	0	0	0	1	0	46	42					T	47845343	C	T	47845343	2	4	28	1	0	0	0	0	0	0	0	1	4354	581	21	2		2	DDX27	20	47845343	Silent	SNP	C	TCGA-BJ-A2P4-01A-11D-A18F-08		47845343	15180177	19	636											
OGFR	11054	broad.mit.edu	37	20	61444704	61444704	+	Silent	SNP	G	G	A			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr20:61444704G>A	ENST00000290291.6	+	7	1762	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	OGFR_ENST00000370461.1_Silent_p.S527S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	579	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				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)					AGAGCCCATCGGAGACCCCAG	0.741																																						uc002ydj.3																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1735-1737)tcG>tcA		Homo sapiens opioid growth factor receptor (OGFR), mRNA.							4	9	8					20																	61444704		1743	3746	5489	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444704G>A	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1737G>A	20.37:g.61444704G>A			Somatic				OGFR_uc002ydk.3_Silent_p.S562S|OGFR_uc002ydl.3_Silent_p.S527S	p.S579S	NM_007346	NP_031372	WXS	Illumina GAIIx	Phase_I	Q9NZT2	OGFR_HUMAN			6	1772	+	Breast(26;3.65e-08)		579			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1737G>A	CCDS13504.1																																																																																				0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			3	9	0	0	0	1	0	3	9					A	61444704	G	A	61444704	2	1	28	1	0	0	0	0	0	0	0	1	10843	1103	39	1		1	OGFR	20	61444704	Silent	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08	13599361	61444704	1580816	20	637											
ANKRD54	129138	broad.mit.edu	37	22	38236241	38236241	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A2P4-01A-11D-A18F-08	TCGA-BJ-A2P4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64bb0fec-acc3-43ac-b80d-c267d9fca3e9	464d968e-2efa-4aa0-8483-4cfa938005f7	g.chr22:38236241G>C	ENST00000215941.4	-	2	521	c.329C>G	c.(328-330)gCt>gGt	p.A110G	ANKRD54_ENST00000406423.1_5'UTR|ANKRD54_ENST00000609454.1_5'UTR|ANKRD54_ENST00000411961.2_Intron	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	110	Nuclear localization signal (NLS). {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TCTCTTCAGAGCTGTAAAGAG	0.547																																						uc003auc.3																			0				lung(1)	1						c.e2-1		Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.							163	153	156					22																	38236241		2203	4300	6503	SO:0001630	splice_region_variant	129138							g.chr22:38236241G>C	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"Ankyrin repeat domain containing"	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.329-1C>G	22.37:g.38236241G>C			Somatic				ANKRD54_uc003aud.3_Splice_Site	p.A110_splice	NM_138797	NP_620152	WXS	Illumina GAIIx	Phase_I	Q6NXT1	ANR54_HUMAN			2	437	-	Melanoma(58;0.045)		110					Q6ZSB1|Q9UGV1	Splice_Site	SNP	ENST00000215941.4	37	c.329_splice	CCDS13959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902571|2.902571	0.52227|0.52227	.|.	.|.	ENSG00000100124|ENSG00000100124	ENST00000215941;ENST00000434930|ENST00000458278	T;T|.	0.70164|.	-0.25;-0.46|.	4.43|4.43	3.38|3.38	0.38709|0.38709	Ankyrin repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B|.	0.19200|.	0.034|.	B|.	0.20384|.	0.029|.	T|T	0.14392|0.14392	-1.0474|-1.0474	10|5	0.02654|.	T|.	1|.	.|.	12.9286|12.9286	0.58275|0.58275	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	110|.	Q6NXT1|.	ANR54_HUMAN|.	G|V	110|33	ENSP00000215941:A110G;ENSP00000387507:A110G|.	ENSP00000215941:A110G|.	A|L	-|-	2|1	0|0	ANKRD54|ANKRD54	36566187|36566187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	4.870000|4.870000	0.63035|0.63035	2.309000|2.309000	0.77851|0.77851	0.543000|0.543000	0.68304|0.68304	GCT|CTC		0.547	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797	Missense_Mutation	3	100	0	0	0	1	0	3	100					C	38236241	G	C	38236241	5	2	28	1	0	0	0	0	0	0	1	0	680	985	34	4	601	4	ANKRD54	22	38236241	Splice_Site	SNP	G	TCGA-BJ-A2P4-01A-11D-A18F-08		38236241	13068325	21	638											
PRDM2	7799	broad.mit.edu	37	1	14075951	14075951	+	Silent	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:14075951G>C	ENST00000235372.7	+	6	1336	c.480G>C	c.(478-480)cgG>cgC	p.R160R	PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000311066.5_Silent_p.R160R|PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000376048.5_Silent_p.R160R|PRDM2_ENST00000503842.1_5'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	160					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)		CCAGCGCCCGGAGCAAGCGGA	0.726																																						uc001avi.3																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(478-480)cgG>cgC		Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.							14	17	16					1																	14075951		2195	4283	6478	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14075951G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	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"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.480G>C	1.37:g.14075951G>C			Somatic				PRDM2_uc001avg.3_Silent_p.R160R|PRDM2_uc001avh.3_Silent_p.R160R|PRDM2_uc021ogk.1_5'UTR|PRDM2_uc001avk.3_5'UTR|PRDM2_uc009voe.3_Non-coding_Transcript|PRDM2_uc009vof.3_Non-coding_Transcript	p.R160R	NM_012231	NP_036363	WXS	Illumina GAIIx	Phase_I	Q13029	PRDM2_HUMAN	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)	5	1336	+	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)	160					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.480G>C	CCDS150.1																																																																																				0.726	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		13	6	0	0	0	1	0	13	6					C	14075951	G	C	14075951	2	2	29	1	0	0	0	0	0	0	0	1	12458	1161	41	4		4	PRDM2	1	14075951	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		14075951	235174670	1	639											
NBPF10	100132406	broad.mit.edu	37	1	145293460	145293460	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:145293460G>C	ENST00000369339.3	+	3	308	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E19Q			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	290						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)		GAACATTCTAGAAATCAACGA	0.522																																						uc021oul.1																			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.(55-57)Gaa>Caa		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145293460G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.55G>C	1.37:g.145293460G>C	ENSP00000358345:p.Glu19Gln		Somatic				NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Missense_Mutation_p.E19Q|NBPF10_uc001emq.1_Missense_Mutation_p.E19Q	p.E19Q	NM_001039703	NP_001034792	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	0	90	+	all_hematologic(923;0.032)		19					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.55G>C		.	.	.	.	.	.	.	.	.	.	.	10.94	1.491944	0.26774	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03212	4.01	1.21	1.21	0.21127	.	.	.	.	.	T	0.07324	0.0185	M	0.83483	2.645	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.14671	-1.0464	9	0.72032	D	0.01	.	5.8427	0.18643	0.0:0.0:1.0:0.0	.	19	A8MQ30	.	Q	19	ENSP00000345684:E19Q	ENSP00000345684:E19Q	E	+	1	0	NBPF10	144004817	0.000000	0.05858	0.017000	0.16124	0.030000	0.12068	-0.240000	0.08952	0.969000	0.38237	0.184000	0.17185	GAA		0.522	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		96	650	0	0	0	1	0	96	650					C	145293460	G	C	145293460	3	2	29	1	0	0	0	0	1	0	0	0	10193	943	33	4	57	4	NBPF10	1	145293460	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	131217509	145293460	103957161	2	640											
ABL2	27	broad.mit.edu	37	1	179090742	179090742	+	Silent	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:179090742C>T	ENST00000502732.1	-	5	1151	c.948G>A	c.(946-948)gtG>gtA	p.V316V	ABL2_ENST00000507173.1_Silent_p.V295V|ABL2_ENST00000512653.1_Silent_p.V301V|ABL2_ENST00000367623.4_Silent_p.V295V|ABL2_ENST00000511413.1_Silent_p.V316V|ABL2_ENST00000392043.3_Silent_p.V295V|ABL2_ENST00000344730.3_Silent_p.V301V|ABL2_ENST00000504405.1_Silent_p.V280V|ABL2_ENST00000408940.3_Silent_p.V280V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCAATGTTTTCACAGCAACTG	0.428			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(946-948)gtG>gtA		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						192	184	187					1																	179090742		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090742C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.948G>A	1.37:g.179090742C>T			Somatic				ABL2_uc010pnf.2_Silent_p.V316V|ABL2_uc010png.2_Silent_p.V295V|ABL2_uc010pnh.2_Silent_p.V295V|ABL2_uc009wxe.3_Silent_p.V295V|ABL2_uc001gmg.4_Silent_p.V301V|ABL2_uc001gmi.4_Silent_p.V301V|ABL2_uc010pne.2_Silent_p.V280V|ABL2_uc001gmk.3_Silent_p.V280V|ABL2_uc009wxf.2_Silent_p.V301V	p.V316V	NM_007314	NP_009298	WXS	Illumina GAIIx	Phase_I	P42684	ABL2_HUMAN			4	1235	-			316			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.948G>A	CCDS30947.1																																																																																				0.428	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		9	232	0	0	0	1	0	9	232					T	179090742	C	T	179090742	2	4	29	1	0	0	0	0	0	0	0	1	93	813	29	2		2	ABL2	1	179090742	Silent	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	33797282	179090742	70159879	3	641											
GNPAT	8443	broad.mit.edu	37	1	231401089	231401089	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:231401089T>C	ENST00000366647.4	+	5	788	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	207					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCGGGTGCCTTTTTCATGCG	0.383																																						uc001hup.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(619-621)Ttt>Ctt		Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.							118	122	120					1																	231401089		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401089T>C	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.619T>C	1.37:g.231401089T>C	ENSP00000355607:p.Phe207Leu		Somatic				GNPAT_uc009xfo.1_Missense_Mutation_p.F98L|GNPAT_uc009xfp.3_Missense_Mutation_p.F146L	p.F207L	NM_014236	NP_055051	WXS	Illumina GAIIx	Phase_I	O15228	GNPAT_HUMAN			4	825	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	207					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.619T>C	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035589	0.93630	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.25	5.25	0.73442	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	D	0.97350	0.9963	10	0.87932	D	0	.	15.4621	0.75366	0.0:0.0:0.0:1.0	.	146;207	B4DNM9;O15228	.;GNPAT_HUMAN	L	146;207;146;197	ENSP00000402811:F146L;ENSP00000355607:F207L;ENSP00000355606:F146L;ENSP00000411640:F197L	ENSP00000355606:F146L	F	+	1	0	GNPAT	229467712	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.630000	0.83225	2.120000	0.65058	0.383000	0.25322	TTT		0.383	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			3	92	0	0	0	1	0	3	92					C	231401089	T	C	231401089	3	2	29	1	0	0	0	0	1	0	0	0	6541	1609	56	3	637	3	GNPAT	1	231401089	Missense_Mutation	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	52310347	231401089	17849532	4	642											
PIK3CA	5290	broad.mit.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	C	rs121913283		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr3:178952074G>C	ENST00000263967.3	+	21	3286	c.3129G>C	c.(3127-3129)atG>atC	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		66	Substitution - Missense(66)	p.M1043I(128)|p.M1043V(21)|p.M1043T(4)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)atG>atC		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							98	88	91					3																	178952074		1907	4120	6027	SO:0001583	missense	5290				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952074G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3129G>C	3.37:g.178952074G>C	ENSP00000263967:p.Met1043Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.M1043I	NM_006218	NP_006209	WXS	Illumina GAIIx	Phase_I	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3286	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3129G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859141	0.51376	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	55	0	0	0	1	0	40	55					C	178952074	G	C	178952074	3	2	29	1	0	0	0	0	1	0	0	0	11913	1290	45	4	3207	4	PIK3CA	3	178952074	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		178952074	19070356	5	643											
MTTP	4547	broad.mit.edu	37	4	100534244	100534244	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:100534244G>A	ENST00000265517.5	+	15	2367	c.2164G>A	c.(2164-2166)Ggc>Agc	p.G722S	MTTP_ENST00000457717.1_Missense_Mutation_p.G722S|MTTP_ENST00000511045.1_Missense_Mutation_p.G749S|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GTCAGCATCTGGCGACCCTAT	0.423																																						uc011cej.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2245-2247)Ggc>Agc		Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	Hesperetin(DB01094)						159	140	147					4																	100534244		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534244G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2164G>A	4.37:g.100534244G>A	ENSP00000265517:p.Gly722Ser		Somatic				MTTP_uc003hvc.4_Missense_Mutation_p.G722S	p.G749S	NM_000253	NP_000244	WXS	Illumina GAIIx	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2258	+			722					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2245G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663995	0.47572	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62105	0.05;0.08;0.08	5.49	-2.31	0.06765	.	0.188909	0.56097	N	0.000030	T	0.54615	0.1869	L	0.57536	1.79	0.52099	D	0.99994	B;B	0.23854	0.092;0.007	B;B	0.21917	0.037;0.017	T	0.43163	-0.9408	10	0.23302	T	0.38	-4.3126	16.8818	0.86065	0.1004:0.0:0.8996:0.0	.	749;722	E9PBP6;P55157	.;MTP_HUMAN	S	749;722;722	ENSP00000427679:G749S;ENSP00000400821:G722S;ENSP00000265517:G722S	ENSP00000265517:G722S	G	+	1	0	MTTP	100753267	1.000000	0.71417	0.005000	0.12908	0.968000	0.65278	1.655000	0.37345	-0.912000	0.03837	0.585000	0.79938	GGC		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			3	75	0	0	0	1	0	3	75					A	100534244	G	A	100534244	3	1	29	1	0	0	0	0	1	0	0	0	9964	1348	47	2	2222	2	MTTP	4	100534244	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		100534244	90620032	6	644											
ADAM29	11086	broad.mit.edu	37	4	175897117	175897117	+	Silent	SNP	T	T	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:175897117T>C	ENST00000359240.3	+	5	1111	c.441T>C	c.(439-441)caT>caC	p.H147H	ADAM29_ENST00000514159.1_Silent_p.H147H|ADAM29_ENST00000445694.1_Silent_p.H147H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.H147H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	147					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGTTTGAACATCTGGTATACA	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(439-441)caT>caC		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							83	86	85					4																	175897117		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897117T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.441T>C	4.37:g.175897117T>C			Somatic				ADAM29_uc003iud.3_Silent_p.H147H|ADAM29_uc010irr.3_Silent_p.H147H|ADAM29_uc011cki.2_Silent_p.H147H|ADAM29_uc021xuo.1_Silent_p.H147H	p.H147H	NM_014269	NP_055084	WXS	Illumina GAIIx	Phase_I	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	1111	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	147					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.441T>C	CCDS3823.1																																																																																				0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				46	78	0	0	0	1	0	46	78					C	175897117	T	C	175897117	2	2	29	1	0	0	0	0	0	0	0	1	247	1432	50	3		3	ADAM29	4	175897117	Silent	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	75362873	175897117	15257159	7	645											
MTMR12	54545	broad.mit.edu	37	5	32230250	32230250	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:32230250C>A	ENST00000382142.3	-	16	2048	c.1878G>T	c.(1876-1878)ttG>ttT	p.L626F	MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.L572F|MTMR12_ENST00000264934.5_Missense_Mutation_p.L516F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	626	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGGTAACAACAAACCATGGT	0.483																																						uc003jhq.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1876-1878)ttG>ttT		Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.							99	98	98					5																	32230250		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230250C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1878G>T	5.37:g.32230250C>A	ENSP00000371577:p.Leu626Phe		Somatic				MTMR12_uc010iuk.3_Missense_Mutation_p.L572F|MTMR12_uc010iul.3_Missense_Mutation_p.L516F	p.L626F	NM_001040446	NP_001035536	WXS	Illumina GAIIx	Phase_I	Q9C0I1	MTMRC_HUMAN			15	2048	-			626			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1878G>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457207	0.43634	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.52983	0.64;0.64;0.64	5.78	2.87	0.33458	Myotubularin phosphatase domain (1);	0.000000	0.64402	D	0.000001	T	0.58366	0.2117	M	0.62723	1.935	0.22389	N	0.999143	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.47849	-0.9085	10	0.72032	D	0.01	.	3.9688	0.09444	0.1198:0.5421:0.1967:0.1414	.	516;572;626	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	F	572;626;516	ENSP00000280285:L572F;ENSP00000371577:L626F;ENSP00000264934:L516F	ENSP00000264934:L516F	L	-	3	2	MTMR12	32266007	0.861000	0.29849	0.103000	0.21229	0.394000	0.30568	0.633000	0.24598	0.779000	0.33543	0.561000	0.74099	TTG		0.483	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		72	96	0	0	0	1	0	72	96					A	32230250	C	A	32230250	3	1	29	1	0	0	0	0	1	0	0	0	9941	477	17	4	369	4	MTMR12	5	32230250	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08		32230250	148685010	8	646											
CAMK2A	815	broad.mit.edu	37	5	149602592	149602592	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:149602592C>T	ENST00000348628.6	-	17	2058	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.V476I	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	465					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTGGACGATCTGCCAT	0.632																																						uc003lrt.2																			0		p.I475I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1426-1428)Gtc>Atc		Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 1, mRNA.							71	83	79					5																	149602592		2182	4293	6475	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602592C>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1393G>A	5.37:g.149602592C>T	ENSP00000261793:p.Val465Ile		Somatic				CAMK2A_uc003lru.2_Missense_Mutation_p.V465I	p.V476I	NM_015981	NP_057065	WXS	Illumina GAIIx	Phase_I	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	1641	-		all_hematologic(541;0.224)	465					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1426G>A	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990298	0.74589	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.54479	0.57;0.57	5.15	4.29	0.51040	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.64402	U	0.000006	T	0.58949	0.2158	L	0.57536	1.79	0.58432	D	0.999999	B;P;B	0.39920	0.03;0.695;0.03	B;P;B	0.47705	0.012;0.555;0.012	T	0.61148	-0.7121	10	0.52906	T	0.07	.	13.9542	0.64137	0.0:0.9263:0.0:0.0737	.	465;476;465	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	I	465;476	ENSP00000261793:V465I;ENSP00000381412:V476I	ENSP00000261793:V465I	V	-	1	0	CAMK2A	149582785	0.993000	0.37304	0.996000	0.52242	0.986000	0.74619	3.075000	0.50073	1.188000	0.43014	0.555000	0.69702	GTC		0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		57	67	0	0	0	1	0	57	67					T	149602592	C	T	149602592	3	4	29	1	0	0	0	0	1	0	0	0	2599	536	19	1	51	1	CAMK2A	5	149602592	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	117372342	149602592	31312668	9	647											
INTS1	26173	broad.mit.edu	37	7	1542823	1542823	+	Silent	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:1542823G>A	ENST00000404767.3	-	3	148	c.63C>T	c.(61-63)caC>caT	p.H21H	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Silent_p.H149H	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	21					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGGGGGAGGGTGCCCTGCAG	0.542																																						uc003skn.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(61-63)caC>caT		Homo sapiens integrator complex subunit 1 (INTS1), mRNA.							42	48	46					7																	1542823		1926	4129	6055	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542823G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.63C>T	7.37:g.1542823G>A			Somatic				INTS1_uc003skq.2_Silent_p.H21H	p.H21H	NM_001080453	NP_001073922	WXS	Illumina GAIIx	Phase_I	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	2	164	-		Ovarian(82;0.0253)	21					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.63C>T	CCDS47526.1																																																																																				0.542	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			30	50	0	0	0	1	0	30	50					A	1542823	G	A	1542823	2	1	29	1	0	0	0	0	0	0	0	1	7775	1252	44	2		2	INTS1	7	1542823	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		1542823	157595840	10	648											
CLIP2	7461	broad.mit.edu	37	7	73731926	73731926	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:73731926C>G	ENST00000395060.1	+	1	50	c.50C>G	c.(49-51)tCc>tGc	p.S17C	CLIP2_ENST00000223398.6_Missense_Mutation_p.S17C|CLIP2_ENST00000361545.5_Missense_Mutation_p.S17C			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	17						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGAAGCACTCCAGCCCCATG	0.672																																						uc003uam.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(49-51)tCc>tGc		Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.							56	61	59					7																	73731926		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73731926C>G	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.50C>G	7.37:g.73731926C>G	ENSP00000378500:p.Ser17Cys		Somatic				CLIP2_uc003uan.3_Missense_Mutation_p.S17C	p.S17C	NM_003388	NP_003379	WXS	Illumina GAIIx	Phase_I	Q9UDT6	CLIP2_HUMAN			1	377	+			17					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.50C>G	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677258	0.68042	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.60920	0.15;0.2;0.15	4.52	4.52	0.55395	.	0.149197	0.45606	D	0.000358	T	0.61887	0.2383	L	0.27053	0.805	0.38517	D	0.948633	D;D	0.76494	0.999;0.999	D;P	0.66847	0.947;0.862	T	0.68221	-0.5466	10	0.87932	D	0	-15.5974	12.629	0.56646	0.0:1.0:0.0:0.0	.	17;17	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	C	17	ENSP00000223398:S17C;ENSP00000355151:S17C;ENSP00000378500:S17C	ENSP00000223398:S17C	S	+	2	0	CLIP2	73369862	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.665000	0.54532	2.340000	0.79590	0.561000	0.74099	TCC		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		65	80	0	0	0	1	0	65	80					G	73731926	C	G	73731926	3	3	29	1	0	0	0	0	1	0	0	0	3533	855	30	4	52	4	CLIP2	7	73731926	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	72189103	73731926	85406737	11	649											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	63	0	0	0	1	0	46	63					T	140453136	A	T	140453136	3	4	29	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08	66721210	140453136	18685527	12	650											
TMEM176B	28959	broad.mit.edu	37	7	150490266	150490266	+	Silent	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150490266G>C	ENST00000447204.2	-	5	882	c.510C>G	c.(508-510)gtC>gtG	p.V170V	TMEM176B_ENST00000492607.1_Silent_p.V170V|TMEM176B_ENST00000434545.1_Silent_p.V170V|TMEM176B_ENST00000326442.5_Silent_p.V170V|TMEM176B_ENST00000450753.2_Silent_p.V133V|TMEM176B_ENST00000429904.2_Silent_p.V170V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	170					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTAGGGAAGACAGGGTCTG	0.507																																						uc022apx.1																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(508-510)gtC>gtG		Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.							161	133	143					7																	150490266		2203	4300	6503	SO:0001819	synonymous_variant	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490266G>C	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.510C>G	7.37:g.150490266G>C			Somatic				TMEM176B_uc003whu.4_Silent_p.V170V|TMEM176B_uc003whv.4_Silent_p.V133V|TMEM176B_uc003whw.4_Silent_p.V170V	p.V170V	NM_014020	NP_054739	WXS	Illumina GAIIx	Phase_I	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	636	-			170					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	ENST00000447204.2	37	c.510C>G	CCDS5908.1																																																																																				0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		53	69	0	0	0	1	0	53	69					C	150490266	G	C	150490266	2	2	29	1	0	0	0	0	0	0	0	1	16090	929	33	4		4	TMEM176B	7	150490266	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	10037130	150490266	8648397	13	651											
ABP1	26	broad.mit.edu	37	7	150558122	150558122	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150558122T>A	ENST00000493429.1	+	7	2665	c.2081T>A	c.(2080-2082)tTc>tAc	p.F694Y	AOC1_ENST00000360937.4_Missense_Mutation_p.F694Y|AOC1_ENST00000416793.2_Missense_Mutation_p.F713Y|AOC1_ENST00000467291.1_Missense_Mutation_p.F694Y|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	694					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TCCGTGGGCTTCCTGCTCCGG	0.627																																						uc003wia.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2137-2139)tTc>tAc		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)						63	76	72					7																	150558122		2063	4216	6279	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150558122T>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2081T>A	7.37:g.150558122T>A	ENSP00000418614:p.Phe694Tyr		Somatic				ABP1_uc003why.1_Missense_Mutation_p.F694Y|ABP1_uc003whz.1_Missense_Mutation_p.F694Y	p.F713Y	NM_001091	NP_001082	WXS	Illumina GAIIx	Phase_I	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	2228	+	all_neural(206;0.219)		694					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2138T>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863710	0.91511	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.01	5.01	0.66863	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.92738	3.34	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.18272	-1.0342	10	0.72032	D	0.01	-28.9915	12.689	0.56964	0.0:0.0:0.0:1.0	.	713;694	C9J690;P19801	.;ABP1_HUMAN	Y	694;694;694;713;570	ENSP00000418614:F694Y;ENSP00000418328:F694Y;ENSP00000354193:F694Y;ENSP00000411613:F713Y	ENSP00000354193:F694Y	F	+	2	0	ABP1	150189055	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.632000	0.83247	1.884000	0.54569	0.397000	0.26171	TTC		0.627	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		41	50	0	0	0	1	0	41	50					A	150558122	T	A	150558122	3	1	29	1	0	0	0	0	1	0	0	0	98	1783	62	5	2095	5	ABP1	7	150558122	Missense_Mutation	SNP	T	TCGA-BJ-A3EZ-01A-11D-A202-08	67856	150558122	8580541	14	652											
LETM2	137994	broad.mit.edu	37	8	38264955	38264955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr8:38264955G>T	ENST00000379957.4	+	10	1514	c.1387G>T	c.(1387-1389)Gga>Tga	p.G463*	LETM2_ENST00000523983.2_Nonsense_Mutation_p.G416*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.G415*|RP11-350N15.6_ENST00000606593.1_RNA|LETM2_ENST00000297720.5_Nonsense_Mutation_p.G368*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.G249*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	463						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ATTACCTAAAGGACCCATCAC	0.388																																						uc003xlm.2																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1246-1248)Gga>Tga		Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.							176	163	167					8																	38264955		2203	4300	6503	SO:0001587	stop_gained	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38264955G>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1387G>T	8.37:g.38264955G>T	ENSP00000369291:p.Gly463*		Somatic				LETM2_uc003xll.2_Nonsense_Mutation_p.G368*|LETM2_uc003xln.2_Nonsense_Mutation_p.G260*|LETM2_uc003xlo.2_Nonsense_Mutation_p.G260*	p.G416*	NM_001199659	NP_001186588	WXS	Illumina GAIIx	Phase_I	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		9	1478	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	463					A6NMG3|Q8NCR2|Q96LL1	Nonsense_Mutation	SNP	ENST00000379957.4	37	c.1246G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627203|2.627203	0.46944|0.46944	.|.	.|.	ENSG00000165046|ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710|ENST00000527175	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	1.470630|.	0.04114|.	N|.	0.315118|.	.|T	.|0.64505	.|0.2604	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63589	.|-0.6603	.|4	0.14252|.	T|.	0.57|.	-3.1925|-3.1925	13.0793|13.0793	0.59104|0.59104	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	368;415;463;416;249|57	.|.	ENSP00000297720:G368X|.	G|R	+|+	1|2	0|0	LETM2|LETM2	38384112|38384112	0.142000|0.142000	0.22610|0.22610	0.137000|0.137000	0.22149|0.22149	0.075000|0.075000	0.17131|0.17131	2.233000|2.233000	0.43027|0.43027	2.134000|2.134000	0.65973|0.65973	0.561000|0.561000	0.74099|0.74099	GGA|AGG		0.388	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		68	113	0	0	0	1	0	68	113					T	38264955	G	T	38264955	4	4	29	1	0	0	0	0	0	1	0	0	8735	1001	35	4	1128	4	LETM2	8	38264955	Nonsense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		38264955	108099067	15	653											
NUDT15	55270	broad.mit.edu	37	13	48611888	48611888	+	Silent	SNP	G	G	A	rs200646172		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr13:48611888G>A	ENST00000258662.2	+	1	186	c.6G>A	c.(4-6)acG>acA	p.T2T	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	2					dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GCGCTATGACGGCCAGCGCAC	0.721											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vbw.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(4-6)acG>acA		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA.							9	12	11					13																	48611888		2159	4195	6354	SO:0001819	synonymous_variant	55270						hydrolase activity|metal ion binding	g.chr13:48611888G>A		CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"Nudix motif containing"	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.6G>A	13.37:g.48611888G>A			Somatic	OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	SUCLA2_uc010tgd.2_5'UTR|NUDT15_uc001vbv.3_Silent_p.T2T	p.T2T	NM_018283	NP_060753	WXS	Illumina GAIIx	Phase_I	Q9NV35	NUD15_HUMAN		GBM - Glioblastoma multiforme(144;4.83e-07)	0	186	+		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	2					A2RUR6|Q32Q27|Q6P2C9	Silent	SNP	ENST00000258662.2	37	c.6G>A	CCDS9407.1																																																																																				0.721	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283		3	0	0	0	0	1	0	3	0					A	48611888	G	A	48611888	2	1	29	1	0	0	0	0	0	0	0	1	10731	1103	39	1		1	NUDT15	13	48611888	Silent	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		48611888	66557990	16	654											
KIAA0556	23247	broad.mit.edu	37	16	27763240	27763240	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:27763240G>C	ENST00000261588.4	+	17	3566	c.3547G>C	c.(3547-3549)Gaa>Caa	p.E1183Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1183						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						GGGGGCTGATGAACGGGTAGG	0.612																																						uc002dow.3																			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.(3547-3549)Gaa>Caa		Homo sapiens KIAA0556 (KIAA0556), mRNA.							22	24	23					16																	27763240		2191	4297	6488	SO:0001583	missense	23247							g.chr16:27763240G>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3547G>C	16.37:g.27763240G>C	ENSP00000261588:p.Glu1183Gln		Somatic					p.E1183Q	NM_015202	NP_056017	WXS	Illumina GAIIx	Phase_I	O60303	K0556_HUMAN			16	3571	+			1183					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3547G>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673236	0.14776	.	.	ENSG00000047578	ENST00000261588	T	0.10005	2.92	5.02	5.02	0.67125	.	0.327247	0.31404	N	0.007701	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.33904	-0.9850	10	0.23891	T	0.37	-17.1038	8.2031	0.31436	0.0821:0.0:0.76:0.1579	.	1183	O60303	K0556_HUMAN	Q	1183	ENSP00000261588:E1183Q	ENSP00000261588:E1183Q	E	+	1	0	KIAA0556	27670741	0.825000	0.29262	0.015000	0.15790	0.007000	0.05969	2.663000	0.46774	2.468000	0.83385	0.585000	0.79938	GAA		0.612	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		22	20	0	0	0	1	0	22	20					C	27763240	G	C	27763240	3	2	29	1	0	0	0	0	1	0	0	0	8183	1291	45	4	3613	4	KIAA0556	16	27763240	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		27763240	62591513	17	655											
ZNF48	197407	broad.mit.edu	37	16	30409512	30409512	+	Missense_Mutation	SNP	G	G	A	rs145091254		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:30409512G>A	ENST00000320159.2	+	2	1317	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	314					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)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GAGTTTGCCCGGGGATCCGAC	0.622																																						uc021tgi.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(940-942)cGg>cAg		Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 2, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	88	100	96		941,572,941,941	4.9	1.0	16	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF48	NM_001214906.1,NM_001214907.1,NM_001214909.1,NM_152652.2	43,43,43,43	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	314/619,191/496,314/619,314/619	30409512	1,12993	2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409512G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"Zinc fingers, C2H2-type"	13114	protein-coding gene	gene with protein product			"zinc finger protein 553"	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.941G>A	16.37:g.30409512G>A	ENSP00000324056:p.Arg314Gln		Somatic				ZNF48_uc021tgj.1_Missense_Mutation_p.R191Q|ZNF48_uc021tgk.1_Missense_Mutation_p.R314Q|ZNF48_uc002dya.2_Missense_Mutation_p.R314Q	p.R314Q	NM_001214906	NP_001201835	WXS	Illumina GAIIx	Phase_I	Q96MX3	ZNF48_HUMAN			2	1055	+			314					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.941G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733793	0.30684	2.28E-4	0.0	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.14893	2.47	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002281	T	0.15696	0.0378	N	0.05619	-0.0049999999999999	0.23640	N	0.997222	D	0.76494	0.999	D	0.87578	0.998	T	0.23547	-1.0185	10	0.05351	T	0.99	-12.9205	9.1161	0.36758	0.0971:0.0:0.9029:0.0	.	314	Q96MX3	ZNF48_HUMAN	Q	439;314	ENSP00000324056:R314Q	ENSP00000324056:R314Q	R	+	2	0	ZNF48	30317013	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.318000	0.08050	2.565000	0.86533	0.467000	0.42956	CGG		0.622	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		43	42	0	0	0	1	0	43	42					A	30409512	G	A	30409512	3	1	29	1	0	0	0	0	1	0	0	0	17931	1116	39	1	947	1	ZNF48	16	30409512	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	2646272	30409512	59945241	18	656											
CIRH1A	84916	broad.mit.edu	37	16	69200994	69200994	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:69200994A>G	ENST00000314423.7	+	16	2027	c.1850A>G	c.(1849-1851)aAa>aGa	p.K617R	CIRH1A_ENST00000352319.4_Missense_Mutation_p.K502R|CIRH1A_ENST00000563094.1_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	617					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCAAATGACAAAACCTTACTC	0.378																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1849-1851)aAa>aGa		Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.							120	120	120					16																	69200994		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69200994A>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1850A>G	16.37:g.69200994A>G	ENSP00000327179:p.Lys617Arg		Somatic				CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Missense_Mutation_p.K534R|CIRH1A_uc010cfi.3_Missense_Mutation_p.K419R	p.K617R	NM_032830	NP_116219	WXS	Illumina GAIIx	Phase_I	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1946	+			617					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1850A>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407630	0.42715	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.38887	1.63;1.11	6.03	4.93	0.64822	.	0.090395	0.85682	N	0.000000	T	0.39911	0.1096	M	0.65975	2.015	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19192	-1.0313	10	0.26408	T	0.33	.	10.5758	0.45227	0.924:0.0:0.076:0.0	.	617	Q969X6	CIR1A_HUMAN	R	617;502	ENSP00000327179:K617R;ENSP00000339164:K502R	ENSP00000327179:K617R	K	+	2	0	CIRH1A	67758495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.457000	0.45005	1.090000	0.41315	0.533000	0.62120	AAA		0.378	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		59	70	0	0	0	1	0	59	70					G	69200994	A	G	69200994	3	3	29	1	0	0	0	0	1	0	0	0	3434	14	1	3	1908	3	CIRH1A	16	69200994	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08	38791482	69200994	21153759	19	657											
ARHGEF15	22899	broad.mit.edu	37	17	8218800	8218800	+	Silent	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:8218800C>T	ENST00000361926.3	+	7	1439	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Silent_p.F443F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	443	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)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCGACACCTTCGTGCTGAGCC	0.617																																						uc002glc.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1327-1329)ttC>ttT		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.							117	105	109					17																	8218800		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.chr17:8218800C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1329C>T	17.37:g.8218800C>T			Somatic				ARHGEF15_uc002gld.3_Silent_p.F443F|ARHGEF15_uc010vuw.2_Silent_p.F332F	p.F443F	NM_173728	NP_776089	WXS	Illumina GAIIx	Phase_I	O94989	ARHGF_HUMAN			6	1484	+			443			DH.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1329C>T	CCDS11139.1																																																																																				0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		50	127	0	0	0	1	0	50	127					T	8218800	C	T	8218800	2	4	29	1	0	0	0	0	0	0	0	1	898	883	31	1		1	ARHGEF15	17	8218800	Silent	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08		8218800	72976410	20	658											
DNAH9	1770	broad.mit.edu	37	17	11757354	11757354	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:11757354C>T	ENST00000262442.4	+	50	9610	c.9542C>T	c.(9541-9543)cCg>cTg	p.P3181L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3181L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3181	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P3181Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGGCTCTCCGCCTCTGGCC	0.572																																						uc002gne.3																			1	Substitution - Missense(1)	p.P3181Q(2)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9541-9543)cCg>cTg		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							81	80	80					17																	11757354		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757354C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9542C>T	17.37:g.11757354C>T	ENSP00000262442:p.Pro3181Leu		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.P2475L	p.P3181L	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	49	9610	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3181			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9542C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797725	0.70567	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.81996	-1.56;-1.56	5.49	5.49	0.81192	Dynein heavy chain, coiled coil stalk (1);	0.126189	0.53938	D	0.000054	D	0.95535	0.8549	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97072	0.9778	10	0.87932	D	0	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	3181	Q9NYC9	DYH9_HUMAN	L	3181;3181;1763	ENSP00000262442:P3181L;ENSP00000414874:P3181L	ENSP00000262442:P3181L	P	+	2	0	DNAH9	11698079	1.000000	0.71417	0.260000	0.24451	0.477000	0.33069	7.278000	0.78587	2.857000	0.98124	0.650000	0.86243	CCG		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		36	47	0	0	0	1	0	36	47					T	11757354	C	T	11757354	3	4	29	1	0	0	0	0	1	0	0	0	4608	652	23	1	9740	1	DNAH9	17	11757354	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	3538554	11757354	69437856	21	659											
FLII	2314	broad.mit.edu	37	17	18149316	18149316	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:18149316C>T	ENST00000327031.4	-	26	3553	c.3328G>A	c.(3328-3330)Gac>Aac	p.D1110N	FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.D1024N|FLII_ENST00000579294.1_Missense_Mutation_p.D1099N|FLII_ENST00000545457.2_Missense_Mutation_p.D1055N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1110					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCGTCAGGGTCTGATGCCCGG	0.617																																						uc002gsr.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3328-3330)Gac>Aac		Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.							88	80	83					17																	18149316		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149316C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3328G>A	17.37:g.18149316C>T	ENSP00000324573:p.Asp1110Asn		Somatic				FLII_uc002gsq.1_Missense_Mutation_p.D981N|FLII_uc010vxn.1_Missense_Mutation_p.D1079N|FLII_uc010vxo.1_Missense_Mutation_p.D1055N	p.D1110N	NM_002018	NP_002009	WXS	Illumina GAIIx	Phase_I	Q13045	FLII_HUMAN			25	3379	-	all_neural(463;0.228)		1110					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3328G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610013	0.66558	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.20069	2.1;2.1	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.42686	1.345	0.80722	D	1	B;B;B;B	0.28783	0.206;0.206;0.024;0.222	B;B;B;B	0.38428	0.043;0.043;0.015;0.273	T	0.02713	-1.1120	10	0.28530	T	0.3	-37.4009	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1024;1024;1110;1079	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	N	1110;989;1024	ENSP00000324573:D1110N;ENSP00000368763:D1024N	ENSP00000324573:D1110N	D	-	1	0	FLII	18090041	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.090000	0.76916	2.690000	0.91761	0.655000	0.94253	GAC		0.617	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		21	43	0	0	0	1	0	21	43					T	18149316	C	T	18149316	3	4	29	1	0	0	0	0	1	0	0	0	5925	913	32	2	501	2	FLII	17	18149316	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	6391962	18149316	63045894	22	660											
DHX8	1659	broad.mit.edu	37	17	41585706	41585706	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:41585706G>A	ENST00000262415.3	+	16	2392		c.e16-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8						ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCTGCTCGTAGGTGATATCCT	0.388																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e16-1		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.							135	128	130					17																	41585706		2203	4300	6503	SO:0001630	splice_region_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	g.chr17:41585706G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2321-1G>A	17.37:g.41585706G>A			Somatic				DHX8_uc010wif.1_Splice_Site_p.G683_splice|DHX8_uc010wig.2_Splice_Site_p.G774_splice	p.G774_splice	NM_004941	NP_004932	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	16	2393	+		Breast(137;0.00908)	774			Helicase C-terminal.			Splice_Site	SNP	ENST00000262415.3	37	c.2321_splice	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801881	0.70682	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3255	0.90252	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX8	38941232	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	9.620000	0.98373	2.571000	0.86741	0.561000	0.74099	.		0.388	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		Intron	43	84	0	0	0	1	0	43	84					A	41585706	G	A	41585706	5	1	29	1	0	0	0	0	0	0	1	0	4515	1014	35	2	2382	2	DHX8	17	41585706	Splice_Site	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	23436390	41585706	39609504	23	661											
CYTH1	9267	broad.mit.edu	37	17	76695039	76695039	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:76695039C>T	ENST00000446868.3	-	8	632	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I|CYTH1_ENST00000589296.1_Intron|RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|CYTH1_ENST00000589297.1_Missense_Mutation_p.V129I			Q15438	CYH1_HUMAN	cytohesin 1	188	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AAGGAGAGGACGTAACAAGTA	0.478																																						uc021ueg.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(562-564)Gtc>Atc		Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.							203	197	199					17																	76695039		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76695039C>T	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.562G>A	17.37:g.76695039C>T	ENSP00000389095:p.Val188Ile		Somatic				CYTH1_uc002jvw.3_Missense_Mutation_p.V188I|U6_uc021ueh.1_5'Flank|CYTH1_uc010wtw.1_Missense_Mutation_p.V129I|CYTH1_uc010wtx.1_Missense_Mutation_p.V129I	p.V188I	NM_004762	NP_004753	WXS	Illumina GAIIx	Phase_I	Q15438	CYH1_HUMAN			7	633	-			188			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.562G>A		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481344	0.44147	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.52057	0.68;0.68	5.34	5.34	0.76211	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.056226	0.64402	D	0.000001	T	0.34890	0.0913	N	0.22421	0.69	0.49915	D	0.999838	B;B	0.15141	0.012;0.01	B;B	0.23419	0.046;0.044	T	0.12091	-1.0561	10	0.31617	T	0.26	.	12.4059	0.55439	0.0:0.9231:0.0:0.0769	.	188;188	Q15438;Q15438-2	CYH1_HUMAN;.	I	188;188;129;129;188;25	ENSP00000389095:V188I;ENSP00000354398:V188I	ENSP00000262763:V188I	V	-	1	0	CYTH1	74206634	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	3.853000	0.55941	2.475000	0.83589	0.591000	0.81541	GTC		0.478	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		7	232	0	0	0	1	0	7	232					T	76695039	C	T	76695039	3	4	29	1	0	0	0	0	1	0	0	0	4203	536	19	1	658	1	CYTH1	17	76695039	Missense_Mutation	SNP	C	TCGA-BJ-A3EZ-01A-11D-A202-08	35109333	76695039	4500171	24	662											
ARRDC5	645432	broad.mit.edu	37	19	4891083	4891083	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr19:4891083G>A	ENST00000381781.2	-	3	1003	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	335										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGGGTTCACGGGTAACACTCC	0.512																																						uc002mbm.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(1003-1005)cCc>cTc		Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.							76	78	77					19																	4891083		2028	4195	6223	SO:0001583	missense	645432				signal transduction			g.chr19:4891083G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.1004C>T	19.37:g.4891083G>A	ENSP00000371200:p.Pro335Leu		Somatic					p.P335L	NM_001080523	NP_001073992	WXS	Illumina GAIIx	Phase_I	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	1004	-			335						Missense_Mutation	SNP	ENST00000381781.2	37	c.1004C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644392	0.29246	.	.	ENSG00000205784	ENST00000381781	T	0.23552	1.9	3.13	3.13	0.36017	Immunoglobulin E-set (1);	.	.	.	.	T	0.19127	0.0459	L	0.27053	0.805	0.09310	N	1	B	0.25351	0.124	B	0.24701	0.055	T	0.15321	-1.0441	9	0.87932	D	0	-6.9293	9.9844	0.41832	0.0:0.0:1.0:0.0	.	335	A6NEK1	ARRD5_HUMAN	L	335	ENSP00000371200:P335L	ENSP00000371200:P335L	P	-	2	0	ARRDC5	4842083	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.332000	0.19751	2.076000	0.62316	0.650000	0.86243	CCC		0.512	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		38	56	0	0	0	1	0	38	56					A	4891083	G	A	4891083	3	1	29	1	0	0	0	0	1	0	0	0	986	1232	43	2	28	2	ARRDC5	19	4891083	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08		4891083	54237900	25	663											
ZNF337	26152	broad.mit.edu	37	20	25656557	25656557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:25656557delT	ENST00000376436.1	-	4	1906	c.1367delA	c.(1366-1368)gagfs	p.E457fs	ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.E425fs|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E457fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	457					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGCTTCTCCTCTGAGTGTGT	0.453																																						uc002wva.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1366-1368)gagfs		Homo sapiens zinc finger protein 337 (ZNF337), mRNA.							154	132	139					20																	25656557		2203	4300	6503	SO:0001589	frameshift_variant	26152							g.chr20:25656557delT		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1367delA	20.37:g.25656557delT	ENSP00000365619:p.Glu457fs		Somatic				ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Del_p.E424fs|ZNF337_uc002wvc.3_Frame_Shift_Del_p.E456fs	p.E456fs	NM_015655	NP_056470	WXS	Illumina GAIIx	Phase_I					3	1889	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.1367delA	CCDS13174.1																																																																																				0.453	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			99	132						99	132	---	---	---	---	-	25656557	T	-	25656557	7	5	29	1	0	1	0	1	0	0	0	0	17850	1551	54	0	892	0	ZNF337	20	25656557	Frame_Shift_Del	DEL	T	TCGA-BJ-A3EZ-01A-11D-A202-08		25656557	37368963	26	664											
SRC	6714	broad.mit.edu	37	20	36031692	36031692	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:36031692G>C	ENST00000373578.2	+	14	1870	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	SRC_ENST00000373558.2_Missense_Mutation_p.E513D|SRC_ENST00000373567.2_Missense_Mutation_p.E507D|SRC_ENST00000358208.4_Missense_Mutation_p.E507D|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Missense_Mutation_p.E513D|SRC_ENST00000445403.1_Missense_Mutation_p.E507D	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|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)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	AGGAGCCTGAGGAGCGGCCCA	0.677																																						uc002xgx.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1519-1521)gaG>gaC		Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	Dasatinib(DB01254)						48	38	41					20																	36031692		2202	4300	6502	SO:0001583	missense	6714				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:36031692G>C	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"SH2 domain containing"	11283	protein-coding gene	gene with protein product		190090	"v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1521G>C	20.37:g.36031692G>C	ENSP00000362680:p.Glu507Asp		Somatic				SRC_uc002xgy.3_Missense_Mutation_p.E507D|SRC_uc021wdd.1_Non-coding_Transcript	p.E507D	NM_005417	NP_938033	WXS	Illumina GAIIx	Phase_I	P12931	SRC_HUMAN			13	1970	+		Myeloproliferative disorder(115;0.00878)	507			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1521G>C	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884682	0.33255	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	4.49	1.45	0.22620	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	N	0.04805	-0.155	0.80722	D	1	P	0.45827	0.867	D	0.64144	0.922	T	0.69610	-0.5099	10	0.32370	T	0.25	.	5.5604	0.17140	0.1825:0.0:0.655:0.1625	.	507	P12931	SRC_HUMAN	D	507;507;513;507;507;513	ENSP00000408503:E507D;ENSP00000362680:E507D;ENSP00000353950:E513D;ENSP00000350941:E507D;ENSP00000362668:E507D;ENSP00000362659:E513D	ENSP00000350941:E507D	E	+	3	2	SRC	35465106	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.254000	0.32897	0.612000	0.30071	0.561000	0.74099	GAG		0.677	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		3	15	0	0	0	1	0	3	15					C	36031692	G	C	36031692	3	2	29	1	0	0	0	0	1	0	0	0	15133	991	35	4	1563	4	SRC	20	36031692	Missense_Mutation	SNP	G	TCGA-BJ-A3EZ-01A-11D-A202-08	10375135	36031692	26993828	27	665											
USP9Y	8287	broad.mit.edu	37	Y	14924964	14924964	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chrY:14924964A>C	ENST00000338981.3	+	31	5531	c.4586A>C	c.(4585-4587)tAt>tCt	p.Y1529S	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1529					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGAAATGTATTACATGGGC	0.333																																						uc004fst.1																			0				kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(4585-4587)tAt>tCt		Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.							51	47	48					Y																	14924964		599	1931	2530	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14924964A>C	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.4586A>C	Y.37:g.14924964A>C	ENSP00000342812:p.Tyr1529Ser		Somatic				USP9Y_uc010nwu.1_Non-coding_Transcript	p.Y1529S	NM_004654	NP_004645	WXS	Illumina GAIIx	Phase_I	O00507	USP9Y_HUMAN			30	5531	+			1529					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.4586A>C	CCDS14781.1																																																																																				0.333	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		29	8	0	0	0	1	0	29	8					C	14924964	A	C	14924964	3	2	29	1	0	0	0	0	1	0	0	0	17088	449	16	5	4700	5	USP9Y	24	14924964	Missense_Mutation	SNP	A	TCGA-BJ-A3EZ-01A-11D-A202-08		14924964	44448602	28	666											
BAI2	576	broad.mit.edu	37	1	32207698	32207698	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr1:32207698C>T	ENST00000373658.3	-	8	1714	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	BAI2_ENST00000398538.1_Missense_Mutation_p.G446D|BAI2_ENST00000440175.2_Missense_Mutation_p.G100D|BAI2_ENST00000398542.1_Missense_Mutation_p.G391D|BAI2_ENST00000398547.1_Missense_Mutation_p.G391D|BAI2_ENST00000257070.4_Missense_Mutation_p.G458D|BAI2_ENST00000527361.1_Missense_Mutation_p.G458D|BAI2_ENST00000398556.3_Missense_Mutation_p.G406D|BAI2_ENST00000373655.2_Missense_Mutation_p.G458D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	458	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGAGGGCACCCGTGCATGT	0.677																																						uc001btn.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1372-1374)gGt>gAt		Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.							30	35	34					1																	32207698		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207698C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1373G>A	1.37:g.32207698C>T	ENSP00000362762:p.Gly458Asp		Somatic				BAI2_uc010ogo.2_Missense_Mutation_p.G100D|BAI2_uc010ogp.2_Missense_Mutation_p.G391D|BAI2_uc010ogq.2_Missense_Mutation_p.G458D|BAI2_uc001bto.3_Missense_Mutation_p.G458D|BAI2_uc001btq.1_Missense_Mutation_p.G391D|BAI2_uc010ogr.1_Missense_Mutation_p.G391D	p.G458D	NM_001703	NP_001694	WXS	Illumina GAIIx	Phase_I	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	7	1727	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	458			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1373G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202795	0.79127	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.1	3.19	0.36642	.	0.209202	0.24247	N	0.040215	T	0.75561	0.3866	M	0.91612	3.225	0.53688	D	0.99997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0	T	0.79619	-0.1728	10	0.72032	D	0.01	.	11.0446	0.47850	0.0:0.9064:0.0:0.0936	.	391;458;446;100;391;458;458	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	D	406;391;458;458;391;458;458;100;446;396;437	ENSP00000381564:G406D;ENSP00000381555:G391D;ENSP00000362762:G458D;ENSP00000362759:G458D;ENSP00000381550:G391D;ENSP00000257070:G458D;ENSP00000435397:G458D;ENSP00000391071:G100D;ENSP00000381548:G446D;ENSP00000410921:G396D;ENSP00000437219:G437D	ENSP00000257070:G458D	G	-	2	0	BAI2	31980285	1.000000	0.71417	0.477000	0.27303	0.991000	0.79684	4.793000	0.62474	1.079000	0.41038	0.561000	0.74099	GGT		0.677	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		4	38	0	0	0	1	0	4	38					T	32207698	C	T	32207698	3	4	30	1	0	0	0	0	1	0	0	0	1299	507	18	2	3488	2	BAI2	1	32207698	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		32207698	217042923	1	667											
NPAS2	4862	broad.mit.edu	37	2	101564729	101564729	+	Silent	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr2:101564729C>T	ENST00000335681.5	+	6	681	c.396C>T	c.(394-396)ttC>ttT	p.F132F	NPAS2_ENST00000542504.1_Silent_p.F197F|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	132	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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						TGTTAAATTTCCTCCCAGAAC	0.348																																						uc010yvt.1																			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.(589-591)ttC>ttT		Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.							116	113	114					2																	101564729		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:101564729C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.396C>T	2.37:g.101564729C>T			Somatic				NPAS2_uc002tap.1_Silent_p.F132F	p.F197F	NM_002518	NP_002509	WXS	Illumina GAIIx	Phase_I	Q99743	NPAS2_HUMAN			5	593	+			132					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.591C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.880|7.880	0.730047|0.730047	0.15507|0.15507	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000448812|ENST00000427413	.|.	.|.	.|.	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|.	.|.	.|.	.|.	T|T	0.59998|0.59998	0.2235|0.2235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57458|0.57458	-0.7808|-0.7808	4|4	.|.	.|.	.|.	.|.	9.8791|9.8791	0.41222|0.41222	0.0:0.8442:0.0:0.1558|0.0:0.8442:0.0:0.1558	.|.	.|.	.|.	.|.	S|F	122|198	.|.	.|.	P|S	+|+	1|2	0|0	NPAS2|NPAS2	100931161|100931161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.996000|1.996000	0.40776|0.40776	1.309000|1.309000	0.44985|0.44985	0.650000|0.650000	0.86243|0.86243	CCT|TCC		0.348	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			32	47	0	0	0	1	0	32	47					T	101564729	C	T	101564729	2	4	30	1	0	0	0	0	0	0	0	1	10563	854	30	2		2	NPAS2	2	101564729	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		101564729	141634644	2	668											
DHX30	22907	broad.mit.edu	37	3	47890987	47890987	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:47890987G>T	ENST00000445061.1	+	20	3541	c.3134G>T	c.(3133-3135)aGc>aTc	p.S1045I	DHX30_ENST00000348968.4_Missense_Mutation_p.S1017I|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.S1073I|DHX30_ENST00000446256.2_Missense_Mutation_p.S1006I	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1045						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGCCCAACAGCGTCACATAT	0.592																																						uc003cru.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3133-3135)aGc>aTc		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.							90	82	85					3																	47890987		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	g.chr3:47890987G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3134G>T	3.37:g.47890987G>T	ENSP00000405620:p.Ser1045Ile		Somatic				DHX30_uc003crt.3_Missense_Mutation_p.S1006I|MIR1226_uc021wxj.1_5'Flank	p.S1045I	NM_138615	NP_619520	WXS	Illumina GAIIx	Phase_I	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	19	3560	+			1045					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.3134G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448366	0.43429	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03496	3.92;3.92;3.92;3.91	5.25	4.38	0.52667	Domain of unknown function DUF1605 (1);	0.090751	0.64402	D	0.000001	T	0.06872	0.0175	M	0.64997	1.995	0.46478	D	0.999065	B;B	0.30634	0.288;0.232	B;B	0.34038	0.174;0.113	T	0.11084	-1.0602	10	0.56958	D	0.05	.	12.581	0.56390	0.0794:0.0:0.9206:0.0	.	1045;1006	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	I	1006;1045;1017;1073	ENSP00000392601:S1006I;ENSP00000405620:S1045I;ENSP00000343442:S1017I;ENSP00000394682:S1073I	ENSP00000343442:S1017I	S	+	2	0	DHX30	47865991	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.899000	0.69846	1.215000	0.43411	0.655000	0.94253	AGC		0.592	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	54	0	0	0	1	0	4	54					T	47890987	G	T	47890987	3	4	30	1	0	0	0	0	1	0	0	0	4504	971	34	4	3215	4	DHX30	3	47890987	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		47890987	150131443	3	669											
TIPARP	25976	broad.mit.edu	37	3	156421217	156421217	+	Missense_Mutation	SNP	C	C	T	rs1137515		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr3:156421217C>T	ENST00000461166.1	+	5	1840	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TIPARP_ENST00000542783.1_Missense_Mutation_p.L418F|TIPARP_ENST00000295924.7_Missense_Mutation_p.L418F|TIPARP_ENST00000486483.1_Missense_Mutation_p.L418F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	418					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTAGGACACTTGGTGGGGT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1252-1254)Ctt>Ttt		Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.							65	62	63					3																	156421217		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421217C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1252C>T	3.37:g.156421217C>T	ENSP00000420612:p.Leu418Phe		Somatic				TIPARP_uc003faw.3_Missense_Mutation_p.L418F|TIPARP_uc021xgg.1_Missense_Mutation_p.L418F	p.L418F	NM_015508	NP_056323	WXS	Illumina GAIIx	Phase_I	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		4	1674	+			418					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1252C>T	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.236173|4.236173	0.79800|0.79800	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783|ENST00000495891	T;T;T;T;T;T|T	0.32272|0.31510	1.46;1.46;1.46;1.46;1.46;1.46|1.49	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.066745|.	0.64402|.	D|.	0.000016|.	T|T	0.37625|0.37625	0.1010|0.1010	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P|.	0.47841|.	0.901|.	P|.	0.47786|.	0.557|.	T|T	0.04242|0.04242	-1.0966|-1.0966	10|7	0.37606|0.20519	T|T	0.19|0.43	.|.	13.0582|13.0582	0.58992|0.58992	0.0:0.9217:0.0:0.0783|0.0:0.9217:0.0:0.0783	rs1137515|rs1137515	418|.	Q7Z3E1|.	PARPT_HUMAN|.	F|I	418|120	ENSP00000418757:L418F;ENSP00000295924:L418F;ENSP00000420612:L418F;ENSP00000419982:L418F;ENSP00000418829:L418F;ENSP00000438345:L418F|ENSP00000420141:T120I	ENSP00000295924:L418F|ENSP00000420141:T120I	L|T	+|+	1|2	0|0	TIPARP|TIPARP	157903911|157903911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.256000|2.256000	0.43231|0.43231	2.503000|2.503000	0.84419|0.84419	0.585000|0.585000	0.79938|0.79938	CTT|ACT		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		5	42	0	0	0	1	0	5	42					T	156421217	C	T	156421217	3	4	30	1	0	0	0	0	1	0	0	0	15921	565	20	2	1266	2	TIPARP	3	156421217	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08	108530230	156421217	41601213	4	670											
RAI14	26064	broad.mit.edu	37	5	34826488	34826488	+	Silent	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr5:34826488C>T	ENST00000265109.3	+	16	2990	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	RAI14_ENST00000428746.2_Silent_p.L901L|RAI14_ENST00000512629.1_Silent_p.L872L|RAI14_ENST00000515799.1_Silent_p.L904L|RAI14_ENST00000506376.1_Silent_p.L893L|RAI14_ENST00000397449.1_Silent_p.L894L|RAI14_ENST00000503673.1_Silent_p.L901L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	901						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)					TGAACAGCCTCTCCCAGCTCT	0.498																																						uc003jis.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.(2710-2712)ctC>ctT		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							80	81	81					5																	34826488		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34826488C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2703C>T	5.37:g.34826488C>T			Somatic				RAI14_uc003jir.3_Silent_p.L901L|RAI14_uc010iur.3_Silent_p.L872L|RAI14_uc011coj.2_Silent_p.L901L|RAI14_uc003jit.3_Silent_p.L901L|RAI14_uc011cok.2_Silent_p.L893L	p.L904L	NM_001145525	NP_001138997	WXS	Illumina GAIIx	Phase_I	Q9P0K7	RAI14_HUMAN			17	3251	+	all_lung(31;0.000191)		901					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.2712C>T	CCDS34142.1																																																																																				0.498	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		28	49	0	0	0	1	0	28	49					T	34826488	C	T	34826488	2	4	30	1	0	0	0	0	0	0	0	1	13008	900	32	2		2	RAI14	5	34826488	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		34826488	146088772	5	671											
DOCK5	80005	broad.mit.edu	37	8	25226092	25226092	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr8:25226092C>T	ENST00000276440.7	+	33	3333	c.3289C>T	c.(3289-3291)Cac>Tac	p.H1097Y		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1097					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCAGGTCCCCACAAAATCAA	0.393																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3289-3291)Cac>Tac		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							60	61	61					8																	25226092		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25226092C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3289C>T	8.37:g.25226092C>T	ENSP00000276440:p.His1097Tyr		Somatic				DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.H811Y|DOCK5_uc003xei.3_Missense_Mutation_p.H667Y|DOCK5_uc003xej.3_Non-coding_Transcript	p.H1097Y	NM_024940	NP_079216	WXS	Illumina GAIIx	Phase_I	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	32	3426	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1097					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3289C>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.969615|2.969615	0.53614|0.53614	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|T	0.30714|0.41400	1.52|1.0	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.047910|.	0.85682|.	D|.	0.000000|.	T|T	0.55353|0.55353	0.1915|0.1915	L|L	0.50333|0.50333	1.59|1.59	0.51482|0.51482	D|D	0.999923|0.999923	B;B;B|.	0.16802|.	0.019;0.008;0.019|.	B;B;B|.	0.19946|.	0.024;0.027;0.024|.	T|T	0.43327|0.43327	-0.9398|-0.9398	10|7	0.38643|0.37606	T|T	0.18|0.19	.|.	20.0567|20.0567	0.97653|0.97653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1087;872;1097|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	Y|L	1097|868	ENSP00000276440:H1097Y|ENSP00000414125:P868L	ENSP00000276440:H1097Y|ENSP00000414125:P868L	H|P	+|+	1|2	0|0	DOCK5|DOCK5	25282009|25282009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	4.896000|4.896000	0.63222|0.63222	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.393	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		14	41	0	0	0	1	0	14	41					T	25226092	C	T	25226092	3	4	30	1	0	0	0	0	1	0	0	0	4690	594	21	2	3419	2	DOCK5	8	25226092	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		25226092	121137930	6	672											
CYP2C8	1558	broad.mit.edu	37	10	96802700	96802700	+	Missense_Mutation	SNP	C	C	T	rs147133669	byFrequency	TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr10:96802700C>T	ENST00000371270.3	-	7	1190	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280M|CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264M	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	366					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)	GCATGGGGCACACCGGTGGGG	0.488													C|||	3	0.000599042	8e-04	0.0014	5008	,	,		20568	0		0.001	False		,,,				2504	0					uc001kkb.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1096-1098)Gtg>Atg		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	4,4402	8.1+/-20.4	0,4,2199	243	204	217		1096,886,790,886	-9.0	0.0	10	dbSNP_134	217	0,8600		0,0,4300	no	missense,missense,missense,missense	CYP2C8	NM_000770.3,NM_001198853.1,NM_001198854.1,NM_001198855.1	21,21,21,21	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign,benign	366/491,296/421,264/389,296/421	96802700	4,13002	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.chr10:96802700C>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1096G>A	10.37:g.96802700C>T	ENSP00000360317:p.Val366Met		Somatic				CYP2C8_uc010qoa.2_Missense_Mutation_p.V296M|CYP2C8_uc010qoc.2_Missense_Mutation_p.V264M|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.V280M|CYP2C8_uc021pwl.1_Missense_Mutation_p.V296M|CYP2C8_uc010qod.1_Missense_Mutation_p.V280M	p.V366M	NM_000770	NP_000761	WXS	Illumina GAIIx	Phase_I	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	6	1191	-		Colorectal(252;0.0397)	366					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1096G>A	CCDS7438.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.561	1.118553	0.20877	9.08E-4	0.0	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70516	-0.49;-0.49;-0.49	4.49	-8.97	0.00758	.	0.552015	0.14889	U	0.292505	T	0.57184	0.2036	L	0.60957	1.885	0.09310	N	1	P;P;B;B	0.39071	0.508;0.658;0.364;0.41	B;B;B;B	0.37943	0.156;0.124;0.261;0.124	T	0.55636	-0.8110	10	0.72032	D	0.01	.	8.5394	0.33384	0.1303:0.5889:0.1179:0.1629	.	280;264;334;366	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	M	366;333;264;280	ENSP00000360317:V366M;ENSP00000445062:V264M;ENSP00000442343:V280M	ENSP00000360317:V366M	V	-	1	0	CYP2C8	96792690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.941000	0.00329	-2.337000	0.00628	-1.105000	0.02106	GTG		0.488	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	113	0	0	0	1	0	4	113					T	96802700	C	T	96802700	3	4	30	1	0	0	0	0	1	0	0	0	4167	478	17	2	388	2	CYP2C8	10	96802700	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		96802700	38732047	7	673											
CHRM4	1132	broad.mit.edu	37	11	46407206	46407206	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr11:46407206G>A	ENST00000433765.2	-	1	901	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	301					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTTCTGGGTGGCACTGCCTGA	0.697																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(901-903)gCc>gTc		Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						48	59	55					11																	46407206		2127	4224	6351	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407206G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.902C>T	11.37:g.46407206G>A	ENSP00000409378:p.Ala301Val		Somatic					p.A301V	NM_000741	NP_000732	WXS	Illumina GAIIx	Phase_I	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	0	902	-			301					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.902C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	7.438	0.640047	0.14386	.	.	ENSG00000180720	ENST00000433765	T	0.58940	0.3	4.09	2.02	0.26589	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33265	0.0857	N	0.16266	0.395	0.27656	N	0.947234	B	0.06786	0.001	B	0.10450	0.005	T	0.21586	-1.0241	9	0.12103	T	0.63	.	4.1601	0.10280	0.529:0.0:0.471:0.0	.	301	P08173	ACM4_HUMAN	V	301	ENSP00000409378:A301V	ENSP00000409378:A301V	A	-	2	0	CHRM4	46363782	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	4.279000	0.58953	0.934000	0.37316	0.457000	0.33378	GCC		0.697	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		3	44	0	0	0	1	0	3	44					A	46407206	G	A	46407206	3	1	30	1	0	0	0	0	1	0	0	0	3379	1203	42	2	541	2	CHRM4	11	46407206	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		46407206	88599310	8	674											
CRY1	1407	broad.mit.edu	37	12	107415951	107415951	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr12:107415951C>T	ENST00000008527.5	-	2	1045	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	60	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAGATCCTCAAGACACTGA	0.313																																						uc001tmi.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(178-180)Gag>Aag		Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.							78	84	82					12																	107415951		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107415951C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.178G>A	12.37:g.107415951C>T	ENSP00000008527:p.Glu60Lys		Somatic					p.E60K	NM_004075	NP_004066	WXS	Illumina GAIIx	Phase_I	Q16526	CRY1_HUMAN			1	1037	-			60			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.178G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953221	0.73902	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.25	5.25	0.73442	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.68593	2.085	0.80722	D	1	B	0.21309	0.054	B	0.23852	0.049	T	0.62567	-0.6827	9	0.21014	T	0.42	-12.9293	18.4266	0.90611	0.0:1.0:0.0:0.0	.	60	Q16526	CRY1_HUMAN	K	60	.	ENSP00000008527:E60K	E	-	1	0	CRY1	105940081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.552000	0.82192	2.448000	0.82819	0.555000	0.69702	GAG		0.313	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		5	85	0	0	0	1	0	5	85					T	107415951	C	T	107415951	3	4	30	1	0	0	0	0	1	0	0	0	3903	835	29	2	1626	2	CRY1	12	107415951	Missense_Mutation	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		107415951	26435944	9	675											
LGMN	5641	broad.mit.edu	37	14	93172867	93172867	+	Silent	SNP	C	C	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr14:93172867C>A	ENST00000393218.2	-	13	1489	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	LGMN_ENST00000334869.4_Silent_p.L384L|LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	384					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TCCGGAAGTGCAGCAGGGCCT	0.627																																						uc001yav.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(1150-1152)ctG>ctT		Homo sapiens legumain (LGMN), transcript variant 2, mRNA.							51	52	52					14																	93172867		2203	4300	6503	SO:0001819	synonymous_variant	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93172867C>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1152G>T	14.37:g.93172867C>A			Somatic				LGMN_uc001yat.3_Intron|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Silent_p.L384L	p.L384L	NM_001008530	NP_005597	WXS	Illumina GAIIx	Phase_I	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	12	1513	-		all_cancers(154;0.0706)	384					O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	c.1152G>T	CCDS9904.1																																																																																				0.627	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		3	55	0	0	0	1	0	3	55					A	93172867	C	A	93172867	2	1	30	1	0	0	0	0	0	0	0	1	8755	697	25	4		4	LGMN	14	93172867	Silent	SNP	C	TCGA-BJ-A3F0-01A-11D-A202-08		93172867	14176673	10	676											
C16orf70	80262	broad.mit.edu	37	16	67173971	67173971	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67173971T>G	ENST00000219139.3	+	9	934	c.746T>G	c.(745-747)cTt>cGt	p.L249R	C16orf70_ENST00000569600.1_Missense_Mutation_p.L249R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	249										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAGATGTTCTTAGCATGCTT	0.408																																						uc002erc.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(745-747)cTt>cGt		Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.							126	114	118					16																	67173971		2199	4300	6499	SO:0001583	missense	80262							g.chr16:67173971T>G	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.746T>G	16.37:g.67173971T>G	ENSP00000219139:p.Leu249Arg		Somatic				C16orf70_uc002erd.3_Missense_Mutation_p.L249R	p.L249R	NM_025187	NP_079463	WXS	Illumina GAIIx	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	9	830	+		Ovarian(137;0.192)	249					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.746T>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461493	0.43736	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.73217	2.22	0.58432	D	0.999999	D	0.67145	0.996	D	0.66602	0.945	T	0.79145	-0.1924	9	0.62326	D	0.03	-11.8018	15.3964	0.74798	0.0:0.0:0.0:1.0	.	249	Q9BSU1	CP070_HUMAN	R	249	.	ENSP00000219139:L249R	L	+	2	0	C16orf70	65731472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.117000	0.71577	2.313000	0.78055	0.455000	0.32223	CTT		0.408	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		4	81	0	0	0	1	0	4	81					G	67173971	T	G	67173971	3	3	30	1	0	0	0	0	1	0	0	0	1829	1609	56	5	780	5	C16orf70	16	67173971	Missense_Mutation	SNP	T	TCGA-BJ-A3F0-01A-11D-A202-08		67173971	23180782	11	677											
KIAA0895L	653319	broad.mit.edu	37	16	67214355	67214355	+	Silent	SNP	G	G	A			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr16:67214355G>A	ENST00000290881.7	-	3	1085	c.159C>T	c.(157-159)gtC>gtT	p.V53V	KIAA0895L_ENST00000563902.1_Silent_p.V53V|KIAA0895L_ENST00000561621.1_Silent_p.V53V|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	53	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCGCTGGGGGGACTGCCAGAG	0.657																																						uc002ert.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(157-159)gtC>gtT		Homo sapiens KIAA0895-like (KIAA0895L), mRNA.							11	16	14					16																	67214355		2007	4140	6147	SO:0001819	synonymous_variant	653319							g.chr16:67214355G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.159C>T	16.37:g.67214355G>A			Somatic				KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Silent_p.V53V|EXOC3L1_uc002erv.1_Non-coding_Transcript	p.V53V	NM_001040715	NP_001035805	WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			1	994	-			53			Pro-rich.		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.159C>T	CCDS42177.1																																																																																				0.657	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	14	0	0	0	1	0	8	14					A	67214355	G	A	67214355	2	1	30	1	0	0	0	0	0	0	0	1	8198	1161	41	2		2	KIAA0895L	16	67214355	Silent	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08	40384	67214355	23140398	12	678											
ACAP1	9744	broad.mit.edu	37	17	7251632	7251632	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7251632A>G	ENST00000158762.3	+	17	1722	c.1516A>G	c.(1516-1518)Aag>Gag	p.K506E	ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	506	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAGGCAGGAGAAGGAGGCCTG	0.627																																						uc002ggd.2																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1516-1518)Aag>Gag		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.							42	32	36					17																	7251632		2203	4299	6502	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7251632A>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1516A>G	17.37:g.7251632A>G	ENSP00000158762:p.Lys506Glu		Somatic					p.K506E	NM_014716	NP_055531	WXS	Illumina GAIIx	Phase_I	Q15027	ACAP1_HUMAN			16	1722	+			506			Arf-GAP.|Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1516A>G	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580524	0.86645	.	.	ENSG00000072818	ENST00000158762	T	0.44482	0.92	5.22	5.22	0.72569	.	0.111417	0.64402	D	0.000011	T	0.68063	0.2960	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.74359	-0.3691	10	0.87932	D	0	.	13.1034	0.59233	1.0:0.0:0.0:0.0	.	506	Q15027	ACAP1_HUMAN	E	506	ENSP00000158762:K506E	ENSP00000158762:K506E	K	+	1	0	ACAP1	7192356	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.929000	0.75852	2.196000	0.70406	0.533000	0.62120	AAG		0.627	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		7	23	0	0	0	1	0	7	23					G	7251632	A	G	7251632	3	3	30	1	0	0	0	0	1	0	0	0	118	247	9	3	1582	3	ACAP1	17	7251632	Missense_Mutation	SNP	A	TCGA-BJ-A3F0-01A-11D-A202-08		7251632	73943578	13	679											
EIF4A1	1973	broad.mit.edu	37	17	7481488	7481488	+	Silent	SNP	A	A	G			TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr17:7481488A>G	ENST00000293831.8	+	10	1018	c.1002A>G	c.(1000-1002)agA>agG	p.R334R	EIF4A1_ENST00000582746.1_Intron|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000581808.1_3'UTR|EIF4A1_ENST00000577269.1_Intron|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	334	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGTAGGCCAGAGGCATTGATG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1000-1002)agA>agG		Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.							91	85	87					17																	7481488		2203	4300	6503	SO:0001819	synonymous_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity	g.chr17:7481488A>G	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1002A>G	17.37:g.7481488A>G			Somatic				EIF4A1_uc002ghr.1_Intron|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	p.R334R	NM_001416	NP_001407	WXS	Illumina GAIIx	Phase_I	P60842	IF4A1_HUMAN			20	3565	+			334			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Silent	SNP	ENST00000293831.8	37	c.1002A>G	CCDS11113.1																																																																																				0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		3	74	0	0	0	1	0	3	74					G	7481488	A	G	7481488	2	3	30	1	0	0	0	0	0	0	0	1	5024	301	11	3		3	EIF4A1	17	7481488	Silent	SNP	A	TCGA-BJ-A3F0-01A-11D-A202-08	229856	7481488	73713722	14	680											
GNAS	2778	broad.mit.edu	37	20	57484597	57484597	+	Missense_Mutation	SNP	G	G	T	rs137854533		TCGA-BJ-A3F0-01A-11D-A202-08	TCGA-BJ-A3F0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0715a737-9c4b-41e4-8a79-0701999c9c2e	e53739f1-a4ec-4515-8d37-2726f2608741	g.chr20:57484597G>T	ENST00000371085.3	+	9	1105	c.681G>T	c.(679-681)caG>caT	p.Q227H	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.Q212H|GNAS_ENST00000371102.4_Missense_Mutation_p.Q856H|GNAS_ENST00000371095.3_Missense_Mutation_p.Q213H|GNAS_ENST00000354359.7_Missense_Mutation_p.Q228H|GNAS_ENST00000306090.10_Missense_Mutation_p.Q213H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.Q870H|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	227			Q -> H (in pituitary adenoma; ACTH- secreting adenoma; in a patient with severe Cushing syndrome complicated by psychosis). {ECO:0000269|PubMed:7737262}.|Q -> R (in somatotrophinoma). {ECO:0000269|PubMed:2549426}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Q227H(7)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGGTGGCCAGCGCGATGAAC	0.512			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.3				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		7	Substitution - Missense(7)	p.Q227H(7)	thyroid(7)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2608-2610)caG>caT		Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.							108	91	97					20																	57484597		2203	4300	6503	SO:0001583	missense	2778				G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484597G>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.681G>T	20.37:g.57484597G>T	ENSP00000360126:p.Gln227His	TSP Lung(22;0.16)	Somatic				GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.Q195H|GNAS_uc010gjq.3_Missense_Mutation_p.Q168H|GNAS_uc002xzx.3_Missense_Mutation_p.Q168H|GNAS_uc021wfn.1_Missense_Mutation_p.Q227H|GNAS_uc021wfo.1_Missense_Mutation_p.Q228H|GNAS_uc002yaa.3_Missense_Mutation_p.Q212H|GNAS_uc021wfp.1_Missense_Mutation_p.Q213H|GNAS_uc002yad.3_Missense_Mutation_p.Q118H|GNAS_uc002yae.3_Missense_Mutation_p.Q152H	p.Q870H	NM_080425	NP_001070958	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	2895	+	all_lung(29;0.0104)		227					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2610G>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594386	0.46214	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.59	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.992;0.975;0.998	D	0.91742	0.5405	10	0.87932	D	0	.	7.091	0.25283	0.4002:0.0:0.5998:0.0	.	227;228;212;870	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	870;856;213;227;228;212;213	ENSP00000360141:Q870H;ENSP00000360143:Q856H;ENSP00000360136:Q213H;ENSP00000360126:Q227H;ENSP00000346328:Q228H;ENSP00000265620:Q212H;ENSP00000304472:Q213H	ENSP00000265620:Q212H	Q	+	3	2	GNAS	56917992	1.000000	0.71417	0.998000	0.56505	0.068000	0.16541	2.207000	0.42788	0.844000	0.35094	-0.145000	0.13849	CAG		0.512	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		13	35	0	0	0	1	0	13	35					T	57484597	G	T	57484597	3	4	30	1	0	0	0	0	1	0	0	0	6510	962	34	4	3532	4	GNAS	20	57484597	Missense_Mutation	SNP	G	TCGA-BJ-A3F0-01A-11D-A202-08		57484597	5540923	15	681											
CSMD2	114784	broad.mit.edu	37	1	34180219	34180219	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:34180219C>T	ENST00000373381.4	-	21	3550	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1085	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)				GCTCCACAGGCGCCGTCTGCC	0.592																																						uc001bxm.1																			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.(3373-3375)cGc>cAc		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							127	144	139					1																	34180219		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180219C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3374G>A	1.37:g.34180219C>T	ENSP00000362479:p.Arg1125His		Somatic				CSMD2_uc001bxn.1_Missense_Mutation_p.R1085H	p.R1125H	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			20	3551	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1085			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3374G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.424714	0.96111	.	.	ENSG00000121904	ENST00000373381	T	0.64803	-0.12	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.85130	0.997;0.978	T	0.81597	-0.0860	10	0.23302	T	0.38	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1085;1125	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	1125	ENSP00000362479:R1125H	ENSP00000241312:R1085H	R	-	2	0	CSMD2	33952806	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	CGC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		20	341	0	0	0	1	0	20	341					T	34180219	C	T	34180219	3	4	31	1	0	0	0	0	1	0	0	0	3945	768	27	1	7405	1	CSMD2	1	34180219	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		34180219	215070402	1	682											
COL24A1	255631	broad.mit.edu	37	1	86250007	86250007	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:86250007T>C	ENST00000370571.2	-	49	4468	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1368	Collagen-like 16.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGGTGACCTCTTTTACCTTGA	0.453																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4102-4104)Aga>Gga		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							114	110	111					1																	86250007		1930	4133	6063	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86250007T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4102A>G	1.37:g.86250007T>C	ENSP00000359603:p.Arg1368Gly		Somatic				COL24A1_uc001dli.3_Missense_Mutation_p.R504G|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R668G|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.R1368G	NM_152890	NP_690850	WXS	Illumina GAIIx	Phase_I	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	48	4177	-			1368			Collagen-like 16.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4102A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617128	0.46736	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94184	-3.2;-3.37	5.36	4.16	0.48862	.	0.000000	0.36374	N	0.002634	D	0.96405	0.8827	M	0.91249	3.19	0.48395	D	0.999641	D;D	0.71674	0.998;0.998	D;D	0.70487	0.954;0.969	D	0.96328	0.9241	10	0.52906	T	0.07	.	11.9821	0.53125	0.0:0.0:0.1447:0.8553	.	1368;1368	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	G	1368	ENSP00000359603:R1368G;ENSP00000392531:R1368G	ENSP00000359603:R1368G	R	-	1	2	COL24A1	86022595	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.256000	0.51492	2.034000	0.60081	0.482000	0.46254	AGA		0.453	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		3	117	0	0	0	1	0	3	117					C	86250007	T	C	86250007	3	2	31	1	0	0	0	0	1	0	0	0	3683	1617	56	3	1090	3	COL24A1	1	86250007	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08	52069788	86250007	163000614	2	683											
TTC30B	150737	broad.mit.edu	37	2	178416303	178416303	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr2:178416303C>T	ENST00000408939.3	-	1	1439	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	397					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCCTGTACTTGTATGGTA	0.448																																						uc002uln.3																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1189-1191)Gta>Ata		Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.							235	240	238					2																	178416303		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416303C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1189G>A	2.37:g.178416303C>T	ENSP00000386181:p.Val397Ile		Somatic				TTC30B_uc010zfc.1_Missense_Mutation_p.V169I	p.V397I	NM_152517	NP_689730	WXS	Illumina GAIIx	Phase_I	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		0	1222	-			397					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1189G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	1.268	-0.614009	0.03690	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.16073	2.37	4.77	4.77	0.60923	.	0.052693	0.85682	D	0.000000	T	0.09730	0.0239	N	0.16656	0.425	0.58432	D	0.999998	B	0.10296	0.003	B	0.13407	0.009	T	0.07309	-1.0779	10	0.06099	T	0.92	.	13.7493	0.62897	0.0:0.9229:0.0:0.0771	.	397	Q8N4P2	TT30B_HUMAN	I	350;397	ENSP00000386181:V397I	ENSP00000386181:V397I	V	-	1	0	TTC30B	178124549	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	4.994000	0.63901	2.628000	0.89032	0.655000	0.94253	GTA		0.448	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	330	0	0	0	1	0	6	330					T	178416303	C	T	178416303	3	4	31	1	0	0	0	0	1	0	0	0	16696	565	20	2	812	2	TTC30B	2	178416303	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		178416303	64783070	3	684											
STXBP5L	9515	broad.mit.edu	37	3	120628502	120628502	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:120628502G>A	ENST00000273666.6	+	2	348	c.77G>A	c.(76-78)aGt>aAt	p.S26N	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	26					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAGTGGCAGTAACAGTGGT	0.478																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(76-78)aGt>aAt		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							46	54	52					3																	120628502		1912	4139	6051	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120628502G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.77G>A	3.37:g.120628502G>A	ENSP00000273666:p.Ser26Asn		Somatic				STXBP5L_uc011bji.2_Missense_Mutation_p.S26N	p.S26N	NM_014980	NP_055795	WXS	Illumina GAIIx	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	1	217	+			26					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.77G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415669	0.42817	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.52526	1.72;1.73;1.52;1.03;1.5;0.66;1.74	5.04	2.1	0.27182	.	0.357947	0.24403	N	0.038821	T	0.24736	0.0600	N	0.08118	0	0.23107	N	0.998286	B;B	0.17667	0.023;0.023	B;B	0.18263	0.021;0.021	T	0.16512	-1.0400	10	0.28530	T	0.3	-28.0666	9.3173	0.37941	0.0:0.299:0.5462:0.1548	.	26;26	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	26	ENSP00000273666:S26N;ENSP00000420019:S26N;ENSP00000419627:S26N;ENSP00000420287:S26N;ENSP00000420666:S26N;ENSP00000419404:S26N;ENSP00000420167:S26N	ENSP00000273666:S26N	S	+	2	0	STXBP5L	122111192	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	2.009000	0.40903	0.250000	0.21479	0.650000	0.86243	AGT		0.478	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			3	66	0	0	0	1	0	3	66					A	120628502	G	A	120628502	3	1	31	1	0	0	0	0	1	0	0	0	15356	1029	36	2	79	2	STXBP5L	3	120628502	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		120628502	77393928	4	685											
ENPEP	2028	broad.mit.edu	37	4	111398002	111398002	+	Silent	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:111398002C>T	ENST00000265162.5	+	1	774	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	144					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCACCCGGCTCCCGGAGCTGA	0.622																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(430-432)ctC>ctT		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						68	79	75					4																	111398002		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398002C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.432C>T	4.37:g.111398002C>T			Somatic					p.L144L	NM_001977	NP_001968	WXS	Illumina GAIIx	Phase_I	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	0	774	+		Hepatocellular(203;0.217)	144					Q504U2	Silent	SNP	ENST00000265162.5	37	c.432C>T	CCDS3691.1																																																																																				0.622	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			19	202	0	0	0	1	0	19	202					T	111398002	C	T	111398002	2	4	31	1	0	0	0	0	0	0	0	1	5128	842	30	2		2	ENPEP	4	111398002	Silent	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		111398002	79756274	5	686											
FNIP2	57600	broad.mit.edu	37	4	159750278	159750278	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:159750278A>G	ENST00000264433.6	+	3	357	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FNIP2_ENST00000379346.3_Silent_p.G117G|FNIP2_ENST00000505445.1_3'UTR	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	94					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCCAGGGAagcagcagtg	0.458																																						uc003iqe.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(280-282)ggA>ggG		Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.							45	46	46					4																	159750278		2041	4207	6248	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159750278A>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.282A>G	4.37:g.159750278A>G			Somatic				FNIP2_uc003iqd.2_Silent_p.G94G	p.G94G	NM_020840	NP_065891	WXS	Illumina GAIIx	Phase_I	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	2	465	+	all_hematologic(180;0.24)		94					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.282A>G	CCDS47155.1																																																																																				0.458	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		3	25	0	0	0	1	0	3	25					G	159750278	A	G	159750278	2	3	31	1	0	0	0	0	0	0	0	1	5976	233	9	3		3	FNIP2	4	159750278	Silent	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	48352276	159750278	31403998	6	687											
HLA-DRA	3122	broad.mit.edu	37	6	32411670	32411670	+	Missense_Mutation	SNP	C	C	T	rs530789959		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:32411670C>T	ENST00000374982.5	+	4	746	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R250C			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGCAGCAGAACGCAGGGGGCC	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				C|||	1	0.000199681	8e-04	0	5008	,	,		20038	0		0	False		,,,				2504	0					uc003obh.3																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(748-750)Cgc>Tgc		Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.							124	111	116					6																	32411670		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity	g.chr6:32411670C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.673C>T	6.37:g.32411670C>T	ENSP00000364121:p.Arg225Cys		Somatic				HLA-DRA_uc003obi.3_Missense_Mutation_p.R225C	p.R250C	NM_019111	NP_061984	WXS	Illumina GAIIx	Phase_I	P01903	DRA_HUMAN			3	857	+			250					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	.	16.42	3.117810	0.56505	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01871	4.59;4.83	5.06	3.29	0.37713	.	0.471757	0.23091	N	0.052037	T	0.02610	0.0079	M	0.76574	2.34	0.09310	N	1	D;D	0.71674	0.998;0.99	P;P	0.53360	0.724;0.634	T	0.36480	-0.9746	10	0.56958	D	0.05	.	7.8486	0.29440	0.0:0.813:0.0:0.187	.	225;250	Q30118;P01903	.;DRA_HUMAN	C	250;225	ENSP00000378786:R250C;ENSP00000364121:R225C	ENSP00000364121:R225C	R	+	1	0	HLA-DRA	32519648	0.000000	0.05858	0.007000	0.13788	0.244000	0.25665	0.522000	0.22909	0.846000	0.35142	0.573000	0.79308	CGC		0.532	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		8	115	0	0	0	1	0	8	115					T	32411670	C	T	32411670	3	4	31	1	0	0	0	0	1	0	0	0	7207	536	19	1	762	1	HLA-DRA	6	32411670	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		32411670	138703397	7	688											
ELOVL5	60481	broad.mit.edu	37	6	53139895	53139895	+	Silent	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53139895G>A	ENST00000542638.1	-	5	936	c.489C>T	c.(487-489)tgC>tgT	p.C163C	ELOVL5_ENST00000541407.1_Silent_p.C190C|ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000486973.1_5'Flank|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000370918.4_Silent_p.C153C			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	163					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|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)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACAGTGGCCGCAGGGGACCC	0.517																																						uc011dwx.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(568-570)tgC>tgT		Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA.							77	64	69					6																	53139895		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|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.chr6:53139895G>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.489C>T	6.37:g.53139895G>A			Somatic				ELOVL5_uc003pbq.1_Silent_p.C163C|ELOVL5_uc003pbr.2_Silent_p.C163C|ELOVL5_uc003pbs.2_Silent_p.C163C	p.C190C	NM_001242828	NP_001229757	WXS	Illumina GAIIx	Phase_I	Q9NYP7	ELOV5_HUMAN			5	941	-	Lung NSC(77;0.116)		163	YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).				B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.570C>T	CCDS4951.1																																																																																				0.517	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		3	55	0	0	0	1	0	3	55					A	53139895	G	A	53139895	2	1	31	1	0	0	0	0	0	0	0	1	5077	1079	38	1		1	ELOVL5	6	53139895	Silent	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08	20728225	53139895	117975172	8	689											
C6orf142	90523	broad.mit.edu	37	6	53989504	53989504	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53989504A>G	ENST00000274897.5	+	3	566	c.453A>G	c.(451-453)ccA>ccG	p.P151P	MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000514921.1_Silent_p.P151P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000370876.2_Silent_p.P89P|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	151						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGCCCCCCAGGGGGGATTG	0.537																																						uc011dxa.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(484-486)ccA>ccG		Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.							77	79	78					6																	53989504		2203	4300	6503	SO:0001819	synonymous_variant	90523					PML body|nuclear envelope	protein binding	g.chr6:53989504A>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.453A>G	6.37:g.53989504A>G			Somatic				MLIP_uc003pcf.2_Silent_p.P151P|MLIP_uc003pcg.4_Silent_p.P151P|MLIP_uc003pch.4_Silent_p.P89P|MLIP_uc011dwz.1_Silent_p.P110P	p.P162P	NM_138569	NP_612636	WXS	Illumina GAIIx	Phase_I	Q5VWP3	MLIP_HUMAN			2	519	+			151					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.486A>G	CCDS4954.1																																																																																				0.537	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		6	155	0	0	0	1	0	6	155					G	53989504	A	G	53989504	2	3	31	1	0	0	0	0	0	0	0	1	2333	175	7	3		3	C6orf142	6	53989504	Silent	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	849609	53989504	117125563	9	690											
HOXA13	3209	broad.mit.edu	37	7	27237982	27237982	+	Silent	SNP	T	T	C	rs35608915	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:27237982T>C	ENST00000222753.4	-	2	1030	c.1002A>G	c.(1000-1002)ttA>ttG	p.L334L	HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000521028.2_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	334					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|endometrium(1)|large_intestine(1)|lung(2)	6						CAAGTTCTTTTAATTGCACCT	0.507			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T|||	5	0.000998403	0	0.0014	5008	,	,		18519	0		0.003	False		,,,				2504	0.001					uc003szb.1				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(1000-1002)ttA>ttG		Homo sapiens homeobox A13 (HOXA13), mRNA.		T		3,4403	6.2+/-15.9	0,3,2200	181	179	180		1002	0.4	1.0	7	dbSNP_126	180	34,8566	24.0+/-70.4	0,34,4266	no	coding-synonymous	HOXA13	NM_000522.4		0,37,6466	CC,CT,TT		0.3953,0.0681,0.2845		334/389	27237982	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237982T>C		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"Homeoboxes / ANTP class : HOXL subclass"	5102	protein-coding gene	gene with protein product		142959	"homeo box A13"	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1002A>G	7.37:g.27237982T>C			Somatic	OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTTIP_uc022aau.1_5'Flank	p.L334L	NM_000522	NP_000513	WXS	Illumina GAIIx	Phase_I	P31271	HXA13_HUMAN			1	1031	-			334					A4D188|O43371	Silent	SNP	ENST00000222753.4	37	c.1002A>G	CCDS5412.1																																																																																				0.507	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			5	214	0	0	0	1	0	5	214					C	27237982	T	C	27237982	2	2	31	1	0	0	0	0	0	0	0	1	7291	1751	61	3		3	HOXA13	7	27237982	Silent	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		27237982	131900681	10	691											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		6	102	0	0	0	1	0	6	102					T	140453136	A	T	140453136	3	4	31	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08	113215154	140453136	18685527	11	692											
ANK1	286	broad.mit.edu	37	8	41554019	41554019	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr8:41554019C>T	ENST00000347528.4	-	26	2905	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	941	ZU5 1. {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)			TGCGCACGTCCGTGGCGGGAT	0.682																																						uc003xom.3																			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.(2944-2946)cGg>cAg		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.							44	43	43					8																	41554019		2203	4299	6502	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.chr8:41554019C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2822G>A	8.37:g.41554019C>T	ENSP00000339620:p.Arg941Gln		Somatic				NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R257Q|ANK1_uc003xoi.3_Missense_Mutation_p.R941Q|ANK1_uc003xoj.3_Missense_Mutation_p.R941Q|ANK1_uc003xok.3_Missense_Mutation_p.R941Q|ANK1_uc003xol.3_Missense_Mutation_p.R941Q	p.R982Q	NM_001142446	NP_001135918	WXS	Illumina GAIIx	Phase_I	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)		26	3227	-	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)	941			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2945G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704567	0.96812	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.67	5.67	0.87782	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.69358	2.11	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	0.85130	0.997;0.994;0.977;0.937;0.997;0.997	T	0.66736	-0.5848	10	0.72032	D	0.01	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	982;941;941;941;941;257	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Q	941;941;941;941;941;941;982;941	ENSP00000339620:R941Q;ENSP00000289734:R941Q;ENSP00000369082:R941Q;ENSP00000380149:R941Q;ENSP00000380147:R941Q;ENSP00000309131:R941Q;ENSP00000265709:R982Q	ENSP00000265709:R982Q	R	-	2	0	ANK1	41673176	1.000000	0.71417	0.814000	0.32528	0.756000	0.42949	6.050000	0.71063	2.686000	0.91538	0.561000	0.74099	CGG		0.682	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	67	0	0	0	1	0	4	67					T	41554019	C	T	41554019	3	4	31	1	0	0	0	0	1	0	0	0	620	652	23	1	3217	1	ANK1	8	41554019	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		41554019	104810003	12	693											
BAMBI	25805	broad.mit.edu	37	10	28970195	28970195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr10:28970195C>T	ENST00000375533.3	+	2	641	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	29					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGTGAAATTCGATGCTACTG	0.433																																						uc001iuj.1																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(85-87)Cga>Tga		Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.							93	90	91					10																	28970195		2203	4300	6503	SO:0001587	stop_gained	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970195C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.85C>T	10.37:g.28970195C>T	ENSP00000364683:p.Arg29*		Somatic					p.R29*	NM_012342	NP_036474	WXS	Illumina GAIIx	Phase_I	Q13145	BAMBI_HUMAN			1	488	+			29						Nonsense_Mutation	SNP	ENST00000375533.3	37	c.85C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021380	0.98613	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.64	1.99	0.26369	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7832	0.69781	0.6988:0.3012:0.0:0.0	.	.	.	.	X	29	.	ENSP00000364683:R29X	R	+	1	2	BAMBI	29010201	0.995000	0.38212	0.998000	0.56505	0.986000	0.74619	1.636000	0.37144	0.524000	0.28502	0.655000	0.94253	CGA		0.433	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		3	83	0	0	0	1	0	3	83					T	28970195	C	T	28970195	4	4	31	1	0	0	0	0	0	1	0	0	1306	876	31	1	91	1	BAMBI	10	28970195	Nonsense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08		28970195	106564552	13	694											
OR4X1	390113	broad.mit.edu	37	11	48285551	48285551	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:48285551A>T	ENST00000320048.1	+	1	139	c.139A>T	c.(139-141)Atc>Ttc	p.I47F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	47						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTGGTGACCATCCTGGCCAG	0.493																																						uc010rht.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(139-141)Atc>Ttc		Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.							178	159	166					11																	48285551		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285551A>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.139A>T	11.37:g.48285551A>T	ENSP00000321506:p.Ile47Phe		Somatic					p.I47F	NM_001004726	NP_001004726	WXS	Illumina GAIIx	Phase_I	Q8NH49	OR4X1_HUMAN			0	139	+			47					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.139A>T	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	9.029	0.986732	0.18889	.	.	ENSG00000176567	ENST00000320048	T	0.08546	3.08	4.29	-4.04	0.04010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18467	0.0443	H	0.94886	3.595	0.09310	N	1	P	0.48503	0.911	B	0.41988	0.372	T	0.22556	-1.0213	9	0.87932	D	0	.	11.4936	0.50396	0.492:0.0:0.508:0.0	.	47	Q8NH49	OR4X1_HUMAN	F	47	ENSP00000321506:I47F	ENSP00000321506:I47F	I	+	1	0	OR4X1	48242127	0.000000	0.05858	0.003000	0.11579	0.058000	0.15608	-0.061000	0.11693	-0.662000	0.05338	0.460000	0.39030	ATC		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		7	62	0	0	0	1	0	7	62					T	48285551	A	T	48285551	3	4	31	1	0	0	0	0	1	0	0	0	11084	217	8	5	141	5	OR4X1	11	48285551	Missense_Mutation	SNP	A	TCGA-BJ-A3PR-01A-11D-A21Z-08		48285551	86720965	14	695											
VPS13C	54832	broad.mit.edu	37	15	62305292	62305292	+	Silent	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr15:62305292G>A	ENST00000261517.5	-	11	844	c.771C>T	c.(769-771)gcC>gcT	p.A257A	VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395896.4_Silent_p.A257A|VPS13C_ENST00000395898.3_Silent_p.A214A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTCCAGTAGGCGCTAAGAC	0.348																																						uc002agz.3																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(769-771)gcC>gcT		Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.							78	73	74					15																	62305292		2203	4299	6502	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62305292G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.771C>T	15.37:g.62305292G>A			Somatic				VPS13C_uc002aha.3_Silent_p.A214A|VPS13C_uc002ahb.2_Silent_p.A257A|VPS13C_uc002ahc.2_Silent_p.A214A	p.A257A	NM_020821	NP_065872	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			10	862	-			257						Silent	SNP	ENST00000261517.5	37	c.771C>T	CCDS32257.1																																																																																				0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		9	100	0	0	0	1	0	9	100					A	62305292	G	A	62305292	2	1	31	1	0	0	0	0	0	0	0	1	17188	987	35	2		2	VPS13C	15	62305292	Silent	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		62305292	40226100	15	696											
COIL	8161	broad.mit.edu	37	17	55016500	55016500	+	Missense_Mutation	SNP	T	T	C	rs533878148		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr17:55016500T>C	ENST00000240316.4	-	7	1697	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	555	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													T|||	1	0.000199681	0	0	5008	,	,		17301	0		0.001	False		,,,				2504	0					uc002iuu.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1663-1665)Aaa>Gaa		Homo sapiens coilin (COIL), mRNA.							119	114	116					17																	55016500		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55016500T>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1663A>G	17.37:g.55016500T>C	ENSP00000240316:p.Lys555Glu		Somatic					p.K555E	NM_004645	NP_004636	WXS	Illumina GAIIx	Phase_I	P38432	COIL_HUMAN			6	1694	-	Breast(9;6.15e-08)		555					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1663A>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600898	0.28534	.	.	ENSG00000121058	ENST00000240316	T	0.35048	1.33	4.84	4.84	0.62591	.	0.333481	0.31872	N	0.006935	T	0.21468	0.0517	N	0.14661	0.345	0.21950	N	0.999451	B	0.02656	0.0	B	0.08055	0.003	T	0.11012	-1.0605	10	0.32370	T	0.25	-14.4845	10.9787	0.47482	0.0:0.0:0.0:1.0	.	555	P38432	COIL_HUMAN	E	555	ENSP00000240316:K555E	ENSP00000240316:K555E	K	-	1	0	COIL	52371499	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	1.545000	0.36169	2.173000	0.68751	0.533000	0.62120	AAA		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			6	141	0	0	0	1	0	6	141					C	55016500	T	C	55016500	3	2	31	1	0	0	0	0	1	0	0	0	3665	1792	62	3	71	3	COIL	17	55016500	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		55016500	26178710	16	697											
CEP192	55125	broad.mit.edu	37	18	13100361	13100361	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr18:13100361T>G	ENST00000325971.8	+	36	6526	c.4933T>G	c.(4933-4935)Ttg>Gtg	p.L1645V	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.L2241V|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1645					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						TTTAACTCGTTTGACCTCCAA	0.363																																						uc010xac.2																			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.(6721-6723)Ttg>Gtg		Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.							77	75	76					18																	13100361		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13100361T>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4933T>G	18.37:g.13100361T>G	ENSP00000317156:p.Leu1645Val		Somatic				CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1766V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L663V|CEP192_uc002krx.3_Missense_Mutation_p.L245V|CEP192_uc002kry.3_Non-coding_Transcript	p.L2241V	NM_032142	NP_115518	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			37	6801	+			1836					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6721T>G		.	.	.	.	.	.	.	.	.	.	T	4.087	0.014049	0.07959	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06528	3.29;3.29;3.29	5.52	0.189	0.15119	.	1.695950	0.02940	N	0.140341	T	0.09291	0.0229	L	0.56769	1.78	0.09310	N	1	P;P;P;B	0.45827	0.867;0.604;0.744;0.001	P;B;B;B	0.44811	0.461;0.271;0.21;0.002	T	0.29088	-1.0023	10	0.21014	T	0.42	2.1655	3.4464	0.07482	0.1317:0.0839:0.4427:0.3417	.	1766;2241;245;843	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	V	2241;1645;1645;1766;245	ENSP00000427550:L2241V;ENSP00000317156:L1645V;ENSP00000389190:L1766V	ENSP00000317156:L1645V	L	+	1	2	CEP192	13090361	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.550000	0.23345	-0.118000	0.11851	-0.313000	0.08912	TTG		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	117	0	0	0	1	0	8	117					G	13100361	T	G	13100361	3	3	31	1	0	0	0	0	1	0	0	0	3251	1838	64	5	6867	5	CEP192	18	13100361	Missense_Mutation	SNP	T	TCGA-BJ-A3PR-01A-11D-A21Z-08		13100361	64976887	17	698											
SPTBN4	57731	broad.mit.edu	37	19	41026051	41026051	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:41026051G>A	ENST00000352632.3	+	16	3733	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1216					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)			GTGGTGCTGCGTAACCAGGTG	0.672																																						uc002ony.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.(3646-3648)cGt>cAt		Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.							9	10	10					19																	41026051		2109	4128	6237	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41026051G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3647G>A	19.37:g.41026051G>A	ENSP00000263373:p.Arg1216His		Somatic				SPTBN4_uc002onx.3_Missense_Mutation_p.R1216H|SPTBN4_uc002onz.3_Missense_Mutation_p.R1216H|SPTBN4_uc010egx.3_5'UTR	p.R1216H	NM_020971	NP_066022	WXS	Illumina GAIIx	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		15	3733	+			1216					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3647G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975268	0.18736	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.75154	-0.91;1.27;1.27	3.89	-0.906	0.10524	.	0.293275	0.28332	U	0.015737	T	0.40423	0.1116	N	0.01352	-0.895	0.80722	D	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.002;0.003	T	0.14254	-1.0479	10	0.72032	D	0.01	.	7.0653	0.25149	0.6735:0.0:0.3265:0.0	.	1216;1216	Q9H254;Q71S06	SPTN4_HUMAN;.	H	1216	ENSP00000263373:R1216H;ENSP00000340345:R1216H;ENSP00000340741:R1216H	ENSP00000340345:R1216H	R	+	2	0	SPTBN4	45717891	0.000000	0.05858	0.225000	0.23894	0.063000	0.16089	-0.126000	0.10563	0.028000	0.15324	-0.379000	0.06801	CGT		0.672	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	20	0	0	0	1	0	3	20					A	41026051	G	A	41026051	3	1	31	1	0	0	0	0	1	0	0	0	15120	1145	40	1	3705	1	SPTBN4	19	41026051	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		41026051	18102932	18	699											
ZNF665	79788	broad.mit.edu	37	19	53668940	53668940	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:53668940C>T	ENST00000600412.1	-	2	723	c.608G>A	c.(607-609)gGc>gAc	p.G203D	ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	203					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(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAGGCTTTGCCACACTCATT	0.393																																						uc010eqm.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(802-804)gGc>gAc		Homo sapiens zinc finger protein 665 (ZNF665), mRNA.							122	131	128					19																	53668940		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668940C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.608G>A	19.37:g.53668940C>T	ENSP00000469154:p.Gly203Asp		Somatic					p.G268D	NM_024733	NP_079009	WXS	Illumina GAIIx	Phase_I	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	903	-			203					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.803G>A		.	.	.	.	.	.	.	.	.	.	C	9.115	1.007516	0.19199	.	.	ENSG00000197497	ENST00000396424	T	0.20881	2.04	2.07	-1.76	0.08006	.	.	.	.	.	T	0.24586	0.0596	L	0.31420	0.93	0.09310	N	0.999999	D	0.63880	0.993	D	0.67900	0.954	T	0.14896	-1.0456	9	0.56958	D	0.05	.	3.2245	0.06728	0.1911:0.4318:0.0:0.3772	.	268	Q9H7R5-2	.	D	268	ENSP00000379702:G268D	ENSP00000379702:G268D	G	-	2	0	ZNF665	58360752	0.000000	0.05858	0.005000	0.12908	0.165000	0.22458	-1.020000	0.03618	-0.179000	0.10654	0.436000	0.28706	GGC		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		5	248	0	0	0	1	0	5	248					T	53668940	C	T	53668940	3	4	31	1	0	0	0	0	1	0	0	0	18070	739	26	2	1237	2	ZNF665	19	53668940	Missense_Mutation	SNP	C	TCGA-BJ-A3PR-01A-11D-A21Z-08	12642889	53668940	5460043	19	700											
NHSL2	340527	broad.mit.edu	37	X	71360543	71360543	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chrX:71360543G>T	ENST00000373677.1	+	2	3309	c.2047G>T	c.(2047-2049)Ggc>Tgc	p.G683C	NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562																																						uc011mqa.2																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(3145-3147)Ggc>Tgc		Homo sapiens NHS-like 2 (NHSL2), mRNA.							53	49	50					X																	71360543		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360543G>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2047G>T	X.37:g.71360543G>T	ENSP00000362781:p.Gly683Cys		Somatic				NHSL2_uc004eak.1_Missense_Mutation_p.G683C|NHSL2_uc010nli.2_Missense_Mutation_p.G818C	p.G1049C	NM_001013627	NP_001013649	WXS	Illumina GAIIx	Phase_I	F5H593	F5H593_HUMAN			5	3145	+	Renal(35;0.156)		1049					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.3145G>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.538055	0.45176	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.49720	1.45;0.8;0.77;0.8	6.08	-9.76	0.00503	.	1.007180	0.07974	N	0.984427	T	0.25791	0.0628	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16603	0.007;0.018;0.018	B;B;B	0.15484	0.013;0.013;0.013	T	0.32161	-0.9917	10	0.59425	D	0.04	-0.0168	6.4653	0.21977	0.5785:0.1589:0.1872:0.0754	.	1049;818;683	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	C	1049;683;818;683	ENSP00000444617:G1049C;ENSP00000362781:G683C;ENSP00000424079:G818C;ENSP00000444914:G683C	ENSP00000362781:G683C	G	+	1	0	NHSL2	71277268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-2.498000	0.00512	-0.905000	0.02835	GGC		0.562	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		3	72	0	0	0	1	0	3	72					T	71360543	G	T	71360543	3	4	31	1	0	0	0	0	1	0	0	0	10412	1116	39	4	3167	4	NHSL2	23	71360543	Missense_Mutation	SNP	G	TCGA-BJ-A3PR-01A-11D-A21Z-08		71360543	83910017	20	701											
PRPF38B	55119	broad.mit.edu	37	1	109235326	109235326	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:109235326C>T	ENST00000370025.4	+	1	382	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.A38V|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	38					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ACCAAGCCGGCGGTCTCCGGC	0.667																																						uc001dvv.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(112-114)gCg>gTg		Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA.							47	37	40					1																	109235326		2202	4299	6501	SO:0001583	missense	55119				RNA splicing|mRNA processing	spliceosomal complex		g.chr1:109235326C>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.113C>T	1.37:g.109235326C>T	ENSP00000359042:p.Ala38Val		Somatic				PRPF38B_uc001dvw.4_5'UTR|PRPF38B_uc010ouz.2_5'UTR	p.A38V	NM_018061	NP_060531	WXS	Illumina GAIIx	Phase_I	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	0	395	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	38					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.113C>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080998	0.76528	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.64	2.67	0.31697	.	0.165964	0.53938	N	0.000048	T	0.21631	0.0521	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.05903	-1.0857	9	0.36615	T	0.2	.	9.2823	0.37735	0.0:0.7481:0.1194:0.1324	.	38	Q5VTL8	PR38B_HUMAN	V	38	.	ENSP00000359039:A38V	A	+	2	0	PRPF38B	109036849	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	3.893000	0.56243	0.755000	0.32990	0.462000	0.41574	GCG		0.667	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		4	49	0	0	0	1	0	4	49					T	109235326	C	T	109235326	3	4	32	1	0	0	0	0	1	0	0	0	12568	768	27	1	115	1	PRPF38B	1	109235326	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		109235326	140015295	1	702											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		85	172	0	0	0	1	0	85	172					C	115256529	T	C	115256529	3	2	32	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A3PT-01A-12D-A21Z-08	6021203	115256529	133994092	2	703											
PRPF3	9129	broad.mit.edu	37	1	150307507	150307507	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:150307507G>A	ENST00000324862.6	+	7	995	c.830G>A	c.(829-831)cGc>cAc	p.R277H	PRPF3_ENST00000414970.2_Missense_Mutation_p.R228H|PRPF3_ENST00000543398.1_Missense_Mutation_p.R142H|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	277					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGACACACCGCATGCCTACT	0.458																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.4																			0		p.R277C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(829-831)cGc>cAc		Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.							116	93	101					1																	150307507		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150307507G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.830G>A	1.37:g.150307507G>A	ENSP00000315379:p.Arg277His		Somatic				PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.R236H|PRPF3_uc010pcb.2_Missense_Mutation_p.R228H|PRPF3_uc009wlq.1_Non-coding_Transcript	p.R277H	NM_004698	NP_004689	WXS	Illumina GAIIx	Phase_I	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	6	992	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		277					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.830G>A	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249198	0.59103	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.77750	-1.12;-1.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.68952	2.095	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.14578	0.011;0.011	T	0.65187	-0.6229	10	0.13853	T	0.58	-5.0451	20.0822	0.97779	0.0:0.0:1.0:0.0	.	228;277	E7EVD1;O43395	.;PRPF3_HUMAN	H	277;228;142	ENSP00000315379:R277H;ENSP00000387844:R228H	ENSP00000315379:R277H	R	+	2	0	PRPF3	148574131	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.511000	0.98006	2.826000	0.97356	0.563000	0.77884	CGC		0.458	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		3	51	0	0	0	1	0	3	51					A	150307507	G	A	150307507	3	1	32	1	0	0	0	0	1	0	0	0	12565	1087	38	1	852	1	PRPF3	1	150307507	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	35050978	150307507	98943114	3	704											
GON4L	54856	broad.mit.edu	37	1	155796629	155796629	+	Splice_Site	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:155796629C>T	ENST00000368331.1	-	3	744	c.696G>A	c.(694-696)atG>atA	p.M232I	GON4L_ENST00000437809.1_Splice_Site_p.M232I|GON4L_ENST00000271883.5_Splice_Site_p.M232I|GON4L_ENST00000361040.5_Splice_Site_p.M232I|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	232					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGCCTACCCATTGGAATGA	0.383																																						uc001flz.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.e3+1		Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.							81	80	81					1																	155796629		2203	4300	6503	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155796629C>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.697+1G>A	1.37:g.155796629C>T			Somatic				GON4L_uc001fly.1_Splice_Site_p.E233_splice|GON4L_uc009wrh.1_Splice_Site_p.E233_splice|GON4L_uc001fma.1_Splice_Site_p.E233_splice|GON4L_uc001fmc.3_Splice_Site_p.E233_splice|GON4L_uc001fmd.4_Splice_Site_p.E233_splice|GON4L_uc009wri.3_Splice_Site|GON4L_uc001fme.3_Splice_Site_p.E61_splice	p.E233_splice	NM_001037533	NP_001032622	WXS	Illumina GAIIx	Phase_I	Q3T8J9	GON4L_HUMAN			3	794	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		233					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37	c.697_splice		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292817	0.23564	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.11385	2.98;2.98;2.98;2.78	4.47	2.38	0.29361	.	0.300219	0.27851	N	0.017588	T	0.01905	0.0060	L	0.27053	0.805	0.21802	N	0.999533	B;B;B;B	0.19706	0.022;0.001;0.022;0.038	B;B;B;B	0.18871	0.023;0.003;0.006;0.014	T	0.46048	-0.9219	10	0.17832	T	0.49	.	6.628	0.22841	0.1984:0.5914:0.2102:0.0	.	232;232;232;232	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	I	232	ENSP00000396117:M232I;ENSP00000357315:M232I;ENSP00000271883:M232I;ENSP00000354322:M232I	ENSP00000271883:M232I	M	-	3	0	GON4L	154063253	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.449000	0.21744	1.202000	0.43218	0.491000	0.48974	ATG		0.383	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	Missense_Mutation	5	77	0	0	0	1	0	5	77					T	155796629	C	T	155796629	5	4	32	1	0	0	0	0	0	0	1	0	6572	608	21	2	6263	2	GON4L	1	155796629	Splice_Site	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	5489122	155796629	93453992	4	705											
DISC1	27185	broad.mit.edu	37	1	231885806	231885806	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:231885806C>T	ENST00000602281.1	+	4	1305	c.1252C>T	c.(1252-1254)Cgt>Tgt	p.R418C	DISC1_ENST00000537876.1_Missense_Mutation_p.R418C|DISC1_ENST00000366633.3_Missense_Mutation_p.R418C|DISC1_ENST00000366637.3_5'UTR|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.R418C|DISC1_ENST00000539444.1_Missense_Mutation_p.R418C|DISC1_ENST00000602873.1_Missense_Mutation_p.R68C|DISC1_ENST00000439617.2_Missense_Mutation_p.R418C|DISC1_ENST00000366636.4_Missense_Mutation_p.R418C	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	418	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCCTTGCGCCGTGGGGCCAC	0.527																																						uc010pxh.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1348-1350)Cgt>Tgt		Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.							69	70	70					1																	231885806		2203	4300	6503	SO:0001583	missense	27185				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding	g.chr1:231885806C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1252C>T	1.37:g.231885806C>T	ENSP00000473425:p.Arg418Cys		Somatic				DISC1_uc010pwf.2_3'UTR|DISC1_uc010pwj.1_Missense_Mutation_p.R407C|DISC1_uc010pwk.1_Missense_Mutation_p.R407C|DISC1_uc010pwg.1_Missense_Mutation_p.R407C|DISC1_uc010pwh.1_Missense_Mutation_p.R373C|DISC1_uc010pwi.1_Missense_Mutation_p.R373C|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.R418C|DISC1_uc010pwo.2_3'UTR|DISC1_uc010pwq.2_Missense_Mutation_p.R418C|DISC1_uc010pwr.1_Missense_Mutation_p.R418C|DISC1_uc010pws.1_Missense_Mutation_p.R418C|DISC1_uc010pwt.1_Missense_Mutation_p.R418C|DISC1_uc010pwu.1_Missense_Mutation_p.R68C|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Intron|DISC1_uc010pww.2_Missense_Mutation_p.R418C|DISC1_uc001huy.3_Missense_Mutation_p.R418C|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.R418C|DISC1_uc010pxc.1_Missense_Mutation_p.R418C|DISC1_uc010pxe.2_Missense_Mutation_p.R418C|DISC1_uc010pxf.2_Missense_Mutation_p.R418C|DISC1_uc010pxg.2_Missense_Mutation_p.R418C|DISC1_uc010pxd.2_Missense_Mutation_p.R63C|DISC1_uc009xfr.3_Missense_Mutation_p.R373C|DISC1_uc010pxn.1_Missense_Mutation_p.R63C|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Missense_Mutation_p.R63C|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.R418C|DISC1_uc001huz.3_Missense_Mutation_p.R418C|DISC1_uc001hva.3_Missense_Mutation_p.R418C	p.R450C	NM_001164537	NP_001158009	WXS	Illumina GAIIx	Phase_I	Q9NRI5	DISC1_HUMAN			4	1401	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	418			Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.1348C>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.379182	0.61735	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.18657	2.61;2.44;2.44;2.23;2.61;2.25;2.24;2.2	4.32	0.511	0.16989	.	2.081170	0.03736	N	0.254267	T	0.31827	0.0809	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D;D	0.89917	1.0;0.976;1.0;0.999;1.0;0.999;0.998;1.0;0.996;0.999;0.006;0.998;0.999;0.999;1.0;0.998;1.0;0.998;0.998	P;B;D;P;D;P;P;D;P;P;B;P;P;P;P;P;P;P;P	0.65874	0.899;0.431;0.911;0.827;0.939;0.827;0.731;0.939;0.55;0.827;0.002;0.731;0.827;0.827;0.899;0.731;0.899;0.731;0.731	T	0.12760	-1.0535	10	0.87932	D	0	-0.4317	3.0663	0.06215	0.0:0.4068:0.2221:0.3712	.	450;418;450;418;418;418;418;418;68;418;418;418;418;418;418;418;418;418;418	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	C	418;418;418;450;418;418;418;418;418;418;418	ENSP00000403888:R418C;ENSP00000355596:R418C;ENSP00000443996:R418C;ENSP00000440909:R418C;ENSP00000355593:R418C;ENSP00000440953:R418C;ENSP00000295051:R418C;ENSP00000441193:R418C	ENSP00000295051:R418C	R	+	1	0	DISC1	229952429	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	-0.337000	0.07852	0.063000	0.16370	0.655000	0.94253	CGT		0.527	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		5	94	0	0	0	1	0	5	94					T	231885806	C	T	231885806	3	4	32	1	0	0	0	0	1	0	0	0	4538	652	23	1	1625	1	DISC1	1	231885806	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	76089177	231885806	17364815	5	706											
PDE1A	5136	broad.mit.edu	37	2	183387037	183387037	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:183387037G>T	ENST00000410103.1	-	2	150	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	PDE1A_ENST00000435564.1_Missense_Mutation_p.Q23K|PDE1A_ENST00000456212.1_Missense_Mutation_p.Q23K|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000331935.6_Missense_Mutation_p.Q23K|PDE1A_ENST00000358139.2_Missense_Mutation_p.Q23K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	23					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTTTCAGTCTGTTCTCCTGTA	0.398																																						uc002uoq.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(67-69)Cag>Aag		Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 1, mRNA.							147	147	147					2																	183387037		2202	4300	6502	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183387037G>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.67C>A	2.37:g.183387037G>T	ENSP00000387037:p.Gln23Lys		Somatic				PDE1A_uc010zfp.1_5'UTR|PDE1A_uc010zfq.1_Missense_Mutation_p.Q23K|PDE1A_uc002uos.3_Missense_Mutation_p.Q23K|PDE1A_uc002uov.1_Non-coding_Transcript	p.Q23K	NM_005019	NP_005010	WXS	Illumina GAIIx	Phase_I	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		0	217	-			23					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.67C>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	9.327	1.059621	0.19987	.	.	ENSG00000115252	ENST00000435564;ENST00000331935;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T	0.70045	-0.43;-0.43;-0.44;-0.44;-0.45	5.73	5.73	0.89815	.	0.667620	0.14105	N	0.341135	T	0.56659	0.2000	L	0.46157	1.445	0.31181	N	0.702087	B;P	0.35033	0.349;0.481	B;B	0.33454	0.079;0.164	T	0.55573	-0.8120	10	0.10636	T	0.68	.	12.2252	0.54455	0.0775:0.0:0.9225:0.0	.	23;23	P54750;P54750-4	PDE1A_HUMAN;.	K	23	ENSP00000410309:Q23K;ENSP00000331574:Q23K;ENSP00000387037:Q23K;ENSP00000350858:Q23K;ENSP00000408874:Q23K	ENSP00000331574:Q23K	Q	-	1	0	PDE1A	183095282	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.010000	0.57117	2.714000	0.92807	0.591000	0.81541	CAG		0.398	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			23	123	0	0	0	1	0	23	123					T	183387037	G	T	183387037	3	4	32	1	0	0	0	0	1	0	0	0	11633	1386	48	4	1674	4	PDE1A	2	183387037	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		183387037	59812336	6	707											
SP140	11262	broad.mit.edu	37	2	231135315	231135315	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:231135315G>A	ENST00000392045.3	+	15	1573	c.1459G>A	c.(1459-1461)Gca>Aca	p.A487T	SP140_ENST00000420434.3_Missense_Mutation_p.A460T|SP140_ENST00000486687.2_Missense_Mutation_p.A411T|SP140_ENST00000343805.6_Missense_Mutation_p.A427T|SP140_ENST00000417495.3_Missense_Mutation_p.A373T|SP140_ENST00000350136.5_Missense_Mutation_p.A356T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	487					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTGGATATTGCAAACAACTC	0.308																																						uc002vql.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1459-1461)Gca>Aca		Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.							73	67	69					2																	231135315		1798	4067	5865	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231135315G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1459G>A	2.37:g.231135315G>A	ENSP00000375899:p.Ala487Thr		Somatic				SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.A373T|SP140_uc002vqm.3_Missense_Mutation_p.A427T|SP140_uc010fxl.3_Missense_Mutation_p.A460T	p.A487T	NM_007237	NP_009168	WXS	Illumina GAIIx	Phase_I	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	14	1574	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	487					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1459G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003742	0.07866	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.58210	0.56;0.89;0.63;0.35;0.64	2.98	0.0753	0.14399	.	.	.	.	.	T	0.26159	0.0638	N	0.14661	0.345	0.09310	N	1	P;B;B;B	0.36048	0.534;0.079;0.435;0.016	B;B;B;B	0.29353	0.068;0.019;0.101;0.014	T	0.11966	-1.0566	9	0.21014	T	0.42	-3.8702	5.5523	0.17097	0.3948:0.0:0.6052:0.0	.	460;373;427;487	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	T	411;356;487;373;427;460	ENSP00000440107:A411T;ENSP00000345846:A356T;ENSP00000375899:A487T;ENSP00000342096:A427T;ENSP00000398210:A460T	ENSP00000342096:A427T	A	+	1	0	SP140	230843559	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	-0.063000	0.11655	0.013000	0.14918	-0.145000	0.13849	GCA		0.308	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		12	141	0	0	0	1	0	12	141					A	231135315	G	A	231135315	3	1	32	1	0	0	0	0	1	0	0	0	14962	1319	46	2	1634	2	SP140	2	231135315	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	47748278	231135315	12064058	7	708											
ITPR1	3708	broad.mit.edu	37	3	4824425	4824425	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr3:4824425G>C	ENST00000443694.2	+	47	6465	c.6465G>C	c.(6463-6465)caG>caC	p.Q2155H	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Splice_Site_p.Q2122H|ITPR1_ENST00000354582.6_Splice_Site_p.Q2155H|ITPR1_ENST00000302640.8_Splice_Site_p.Q2155H|ITPR1_ENST00000456211.2_Splice_Site_p.Q2107H|ITPR1_ENST00000423119.2_Splice_Site_p.Q2122H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2170					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)	TAGCCCATCAGGTATGATCTC	0.527																																						uc003bqc.3																			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.e49+1		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.							72	80	77					3																	4824425		2080	4188	6268	SO:0001630	splice_region_variant	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.chr3:4824425G>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6465+1G>C	3.37:g.4824425G>C			Somatic				ITPR1_uc021wsi.1_Splice_Site_p.Q2122_splice|ITPR1_uc021wsj.1_Splice_Site_p.Q2107_splice|ITPR1_uc011asu.2_Intron	p.Q2155_splice	NM_001168272	NP_001161744	WXS	Illumina GAIIx	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	49	6815	+			2170					E7EPX7|E9PDE9|Q14660|Q99897	Splice_Site	SNP	ENST00000443694.2	37	c.6465_splice	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743139	0.49151	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.04;-3.05	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.96002	0.8698	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.72982	0.907;0.979	D	0.96302	0.9222	10	0.66056	D	0.02	.	18.6784	0.91537	0.0:0.0:1.0:0.0	.	2170;2122	Q14643;G5E9P1	ITPR1_HUMAN;.	H	2170;2155;2155;2122;616;2122;2107;2155	ENSP00000306253:Q2155H;ENSP00000346595:Q2155H;ENSP00000405934:Q2122H;ENSP00000349597:Q2122H;ENSP00000397885:Q2107H;ENSP00000401671:Q2155H	ENSP00000306253:Q2155H	Q	+	3	2	ITPR1	4799425	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	5.514000	0.67043	2.407000	0.81776	0.655000	0.94253	CAG		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Missense_Mutation	4	42	0	0	0	1	0	4	42					C	4824425	G	C	4824425	5	2	32	1	0	0	0	0	0	0	1	0	7920	1014	35	4	6700	4	ITPR1	3	4824425	Splice_Site	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		4824425	193198005	8	709											
RAPGEF6	51735	broad.mit.edu	37	5	130825338	130825338	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:130825338C>A	ENST00000509018.1	-	15	1946	c.1741G>T	c.(1741-1743)Gta>Tta	p.V581L	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V581L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V581L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V581L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V296L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V581L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V581L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.V631L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	581	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGTCCATTTACTTCCATAATC	0.259																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvp.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1891-1893)Gta>Tta		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.							42	44	43					5																	130825338		2201	4291	6492	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	g.chr5:130825338C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1741G>T	5.37:g.130825338C>A	ENSP00000421684:p.Val581Leu		Somatic				RAPGEF6_uc003kvo.2_Missense_Mutation_p.V581L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.V581L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.V581L|RAPGEF6_uc003kvn.2_Missense_Mutation_p.V581L|RAPGEF6_uc003kvq.3_Missense_Mutation_p.V298L|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.V581L|RAPGEF6_uc010jdk.3_Missense_Mutation_p.V581L	p.V631L	NM_016340	NP_057424	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	15	2033	-			581					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1891G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353524	0.82243	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.93	5.93	0.95920	PDZ/DHR/GLGF (4);Ras guanine nucleotide exchange factor, domain (1);	0.069079	0.64402	D	0.000019	T	0.49643	0.1569	L	0.47190	1.495	0.80722	D	1	P;P;P;P;P;P;P	0.50272	0.933;0.933;0.918;0.835;0.933;0.918;0.87	P;P;P;P;P;P;P	0.53102	0.718;0.718;0.596;0.612;0.718;0.596;0.718	T	0.44298	-0.9337	10	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	581;581;581;296;631;581;581	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	L	581;581;581;581;581;296;581;581;631	ENSP00000421684:V581L;ENSP00000309298:V581L;ENSP00000426081:V581L;ENSP00000296859:V581L;ENSP00000426910:V296L;ENSP00000311419:V581L;ENSP00000425389:V581L;ENSP00000426948:V631L	ENSP00000426948:V631L	V	-	1	0	RAPGEF6;FNIP1	130853237	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.969000	0.49232	2.805000	0.96524	0.655000	0.94253	GTA		0.259	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		3	34	0	0	0	1	0	3	34					A	130825338	C	A	130825338	3	1	32	1	0	0	0	0	1	0	0	0	13048	565	20	4	3606	4	RAPGEF6	5	130825338	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		130825338	50089922	9	710											
PCDHGB4	8641	broad.mit.edu	37	5	140768722	140768722	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:140768722A>G	ENST00000519479.1	+	1	1271	c.1271A>G	c.(1270-1272)gAt>gGt	p.D424G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	424	Cadherin 4. {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)			ACGGCAACAGATCGGGGCAAG	0.448																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1270-1272)gAt>gGt		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							120	126	124					5																	140768722		1954	4154	6108	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768722A>G	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1271A>G	5.37:g.140768722A>G	ENSP00000428288:p.Asp424Gly		Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.D424G	NM_003736	NP_003727	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1271	+			428			Cadherin 4.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1271A>G	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.680233	0.47886	.	.	ENSG00000253953	ENST00000519479	T	0.68765	-0.35	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90669	0.7073	H	0.99884	4.89	0.35060	D	0.761495	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97373	0.9977	9	0.87932	D	0	.	15.0172	0.71594	1.0:0.0:0.0:0.0	.	424;424	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	G	424	ENSP00000428288:D424G	ENSP00000428288:D424G	D	+	2	0	PCDHGB4	140748906	1.000000	0.71417	0.064000	0.19789	0.032000	0.12392	8.808000	0.91939	2.078000	0.62432	0.529000	0.55759	GAT		0.448	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		7	191	0	0	0	1	0	7	191					G	140768722	A	G	140768722	3	3	32	1	0	0	0	0	1	0	0	0	11565	333	12	3	1273	3	PCDHGB4	5	140768722	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08	9943384	140768722	40146538	10	711											
GEMIN5	25929	broad.mit.edu	37	5	154315560	154315560	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:154315560C>A	ENST00000285873.7	-	3	425	c.350G>T	c.(349-351)tGg>tTg	p.W117L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	117					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCGAGGAGACCAATGTAATGT	0.328																																						uc003lvx.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(349-351)tGg>tTg		Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.							74	69	71					5																	154315560		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154315560C>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.350G>T	5.37:g.154315560C>A	ENSP00000285873:p.Trp117Leu		Somatic				GEMIN5_uc011ddk.1_Missense_Mutation_p.W117L	p.W117L	NM_015465	NP_056280	WXS	Illumina GAIIx	Phase_I	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		2	433	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	117					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.350G>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856694	0.91433	.	.	ENSG00000082516	ENST00000285873	T	0.67171	-0.25	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.84175	0.0436	10	0.72032	D	0.01	-9.5783	19.9983	0.97395	0.0:1.0:0.0:0.0	.	117;117	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	L	117	ENSP00000285873:W117L	ENSP00000285873:W117L	W	-	2	0	GEMIN5	154295753	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.231000	0.78106	2.724000	0.93272	0.561000	0.74099	TGG		0.328	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			8	41	0	0	0	1	0	8	41					A	154315560	C	A	154315560	3	1	32	1	0	0	0	0	1	0	0	0	6331	595	21	4	4280	4	GEMIN5	5	154315560	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	13546838	154315560	26599700	11	712											
E2F3	1871	broad.mit.edu	37	6	20402610	20402610	+	Silent	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741																																						uc003nda.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(145-147)gcC>gcT		Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.							14	21	18					6																	20402610		2127	4171	6298	SO:0001819	synonymous_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402610C>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.147C>T	6.37:g.20402610C>T			Somatic				E2F3_uc003ncz.2_Silent_p.A49A|E2F3_uc021ymj.1_5'Flank	p.A49A	NM_001949	NP_001940	WXS	Illumina GAIIx	Phase_I	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		0	474	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		49			Poly-Ala.		Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	c.147C>T	CCDS4545.1																																																																																				0.741	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			3	75	0	0	0	1	0	3	75					T	20402610	C	T	20402610	2	4	32	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20402610	Silent	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		20402610	150712457	12	713											
DIRAS2	54769	broad.mit.edu	37	9	93375575	93375575	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:93375575C>A	ENST00000375765.3	-	2	923	c.535G>T	c.(535-537)Gac>Tac	p.D179Y		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	179					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.D179N(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTTCCCGTCGATCTGGAGA	0.547																																						uc004aqx.1																			1	Substitution - Missense(1)	p.D179N(2)|p.I178I(1)|p.I178V(1)	skin(1)	kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(535-537)Gac>Tac		Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.							166	149	155					9																	93375575		2203	4300	6503	SO:0001583	missense	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375575C>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.535G>T	9.37:g.93375575C>A	ENSP00000364919:p.Asp179Tyr		Somatic				DIRAS2_uc022bjs.1_Missense_Mutation_p.D179Y	p.D179Y	NM_017594	NP_060064	WXS	Illumina GAIIx	Phase_I	Q96HU8	DIRA2_HUMAN			1	646	-			179					B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	37	c.535G>T	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277498	0.80580	.	.	ENSG00000165023	ENST00000375765	T	0.70164	-0.46	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	L	0.29908	0.895	0.80722	D	1	D	0.57257	0.979	P	0.55303	0.773	T	0.70521	-0.4849	10	0.54805	T	0.06	.	18.3183	0.90229	0.0:1.0:0.0:0.0	.	179	Q96HU8	DIRA2_HUMAN	Y	179	ENSP00000364919:D179Y	ENSP00000364919:D179Y	D	-	1	0	DIRAS2	92415395	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.473000	0.81007	2.884000	0.98904	0.655000	0.94253	GAC		0.547	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			3	58	0	0	0	1	0	3	58					A	93375575	C	A	93375575	3	1	32	1	0	0	0	0	1	0	0	0	4531	884	31	4	68	4	DIRAS2	9	93375575	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08		93375575	47837856	13	714											
PTCH1	5727	broad.mit.edu	37	9	98229625	98229625	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:98229625G>A	ENST00000331920.6	-	15	2632	c.2333C>T	c.(2332-2334)aCg>aTg	p.T778M	PTCH1_ENST00000418258.1_Missense_Mutation_p.T627M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T627M|PTCH1_ENST00000430669.2_Missense_Mutation_p.T712M|PTCH1_ENST00000429896.2_Missense_Mutation_p.T627M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T777M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T712M	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	778					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.T778M(2)|p.T777M(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAATGTCCGTAAGGTCCAG	0.473																																						uc004avk.4																			3	Substitution - Missense(3)	p.T778M(3)|p.T778T(1)|p.T777M(1)	large_intestine(3)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490	GRCh37	CI972684	PTCH1	I		c.(2332-2334)aCg>aTg		Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.							103	103	103					9																	98229625		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98229625G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2333C>T	9.37:g.98229625G>A	ENSP00000332353:p.Thr778Met		Somatic				PTCH1_uc010mro.3_Missense_Mutation_p.T627M|PTCH1_uc010mrp.3_Missense_Mutation_p.T627M|PTCH1_uc010mrq.3_Missense_Mutation_p.T627M|PTCH1_uc004avl.4_Missense_Mutation_p.T627M|PTCH1_uc004avm.4_Missense_Mutation_p.T777M|PTCH1_uc010mrr.3_Missense_Mutation_p.T712M|LOC100507346_uc022bkm.1_Non-coding_Transcript	p.T778M	NM_000264	NP_001077076	WXS	Illumina GAIIx	Phase_I	Q13635	PTC1_HUMAN			14	2521	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	778					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2333C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742987	0.89573	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90732	-2.72;-2.71;-2.7;-2.7;-2.71;-2.7;-2.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	M	0.71036	2.16	0.80722	D	1	D;D;D	0.69078	0.997;0.994;0.996	P;P;P	0.61592	0.891;0.803;0.883	D	0.94031	0.7301	10	0.52906	T	0.07	-14.1169	19.894	0.96945	0.0:0.0:1.0:0.0	.	712;777;778	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	M	778;712;627;627;214;712;627;777	ENSP00000332353:T778M;ENSP00000389744:T712M;ENSP00000399981:T627M;ENSP00000396135:T627M;ENSP00000410287:T712M;ENSP00000414823:T627M;ENSP00000364423:T777M	ENSP00000332353:T778M	T	-	2	0	PTCH1	97269446	1.000000	0.71417	0.970000	0.41538	0.973000	0.67179	9.476000	0.97823	2.700000	0.92200	0.591000	0.81541	ACG		0.473	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	152	0	0	0	1	0	4	152					A	98229625	G	A	98229625	3	1	32	1	0	0	0	0	1	0	0	0	12730	1145	40	1	2046	1	PTCH1	9	98229625	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	4854050	98229625	42983806	14	715											
PSMB7	5695	broad.mit.edu	37	9	127177679	127177679	+	Missense_Mutation	SNP	G	G	A	rs143961480		TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:127177679G>A	ENST00000259457.3	-	1	39	c.26C>T	c.(25-27)cCa>cTa	p.P9L	PSMB7_ENST00000536392.1_Missense_Mutation_p.P9L|PSMB7_ENST00000498485.1_5'Flank	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						TCCAACTGGTGGAGCATACAC	0.607											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004boj.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						c.(25-27)cCa>cTa		Homo sapiens proteasome (prosome, macropain) subunit, beta type, 7 (PSMB7), mRNA.		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	43	43	43		26	2.3	0.0	9	dbSNP_134	43	0,8600		0,0,4300	no	missense	PSMB7	NM_002799.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	9/278	127177679	1,13005	2203	4300	6503	SO:0001583	missense	5695				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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr9:127177679G>A	AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"Proteasome (prosome, macropain) subunits"	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.26C>T	9.37:g.127177679G>A	ENSP00000259457:p.Pro9Leu		Somatic	OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1555	PSMB7_uc010mwm.3_Missense_Mutation_p.P9L	p.P9L	NM_002799	NP_002790	WXS	Illumina GAIIx	Phase_I	Q99436	PSB7_HUMAN			0	43	-			9					B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Missense_Mutation	SNP	ENST00000259457.3	37	c.26C>T	CCDS6855.1	.	.	.	.	.	.	.	.	.	.	G	9.026	0.986104	0.18889	2.27E-4	0.0	ENSG00000136930	ENST00000259457;ENST00000536392;ENST00000441097	T;T;T	0.32753	1.44;1.44;1.44	6.17	2.28	0.28536	.	0.692388	0.14648	N	0.306794	T	0.15912	0.0383	N	0.13168	0.305	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30966	-0.9960	10	0.10377	T	0.69	-32.2283	10.5372	0.45011	0.0713:0.4231:0.5056:0.0	.	9;9	B4E0P1;Q99436	.;PSB7_HUMAN	L	9	ENSP00000259457:P9L;ENSP00000440247:P9L;ENSP00000393157:P9L	ENSP00000259457:P9L	P	-	2	0	PSMB7	126217500	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.406000	0.21032	0.165000	0.19558	-0.150000	0.13652	CCA		0.607	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055525.1	NM_002799		3	76	0	0	0	1	0	3	76					A	127177679	G	A	127177679	3	1	32	1	0	0	0	0	1	0	0	0	12682	1348	47	2	839	2	PSMB7	9	127177679	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	28948054	127177679	14035752	15	716											
CELF2	10659	broad.mit.edu	37	10	11299727	11299727	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr10:11299727G>A	ENST00000379261.4	+	5	501	c.409G>A	c.(409-411)Gga>Aga	p.G137R	CELF2_ENST00000542579.1_Missense_Mutation_p.G144R|CELF2_ENST00000608830.1_Missense_Mutation_p.G113R|CELF2_ENST00000399850.3_Missense_Mutation_p.G113R|CELF2_ENST00000354440.2_Missense_Mutation_p.G113R|CELF2_ENST00000450189.1_Missense_Mutation_p.G144R|CELF2_ENST00000416382.2_Missense_Mutation_p.G137R|CELF2_ENST00000609692.1_Missense_Mutation_p.G113R|CELF2_ENST00000354897.3_Missense_Mutation_p.G113R|CELF2_ENST00000537122.1_Missense_Mutation_p.G26R|CELF2_ENST00000417956.2_Missense_Mutation_p.G113R|CELF2_ENST00000427450.1_Missense_Mutation_p.G113R|CELF2_ENST00000315874.4_Missense_Mutation_p.G113R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	137	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTGTTCATAGGAATGGTATC	0.418																																						uc001ikk.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(430-432)Gga>Aga		Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.							88	89	88					10																	11299727		1931	4141	6072	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding	g.chr10:11299727G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.409G>A	10.37:g.11299727G>A	ENSP00000368563:p.Gly137Arg		Somatic				CELF2_uc010qbi.2_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.G137R|CELF2_uc001iki.4_Missense_Mutation_p.G137R|CELF2_uc001ikl.4_Missense_Mutation_p.G144R|CELF2_uc010qbk.1_Non-coding_Transcript|CELF2_uc010qbl.1_Missense_Mutation_p.G113R|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.4_Missense_Mutation_p.G113R|CELF2_uc001ikp.4_Missense_Mutation_p.G113R|CELF2_uc009xiw.1_3'UTR|CELF2_uc010qbo.1_Missense_Mutation_p.G26R|CELF2_uc010qbp.1_5'UTR	p.G144R	NM_001083591	NP_001077060	WXS	Illumina GAIIx	Phase_I	O95319	CELF2_HUMAN			4	590	+			137			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.430G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057691	0.93846	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122	T;T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.05354	-1.0890	10	0.87932	D	0	-7.3231	19.3698	0.94480	0.0:0.0:1.0:0.0	.	121;137;132;144;132;137	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	R	137;137;144;144;113;113;113;113;113;113;26	ENSP00000368563:G137R;ENSP00000406451:G137R;ENSP00000389951:G144R;ENSP00000443926:G144R;ENSP00000382743:G113R;ENSP00000404834:G113R;ENSP00000315328:G113R;ENSP00000346426:G113R;ENSP00000388530:G113R;ENSP00000438884:G26R	ENSP00000315328:G113R	G	+	1	0	CELF2	11339733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.745000	0.98856	2.555000	0.86185	0.655000	0.94253	GGA		0.418	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	72	0	0	0	1	0	10	72					A	11299727	G	A	11299727	3	1	32	1	0	0	0	0	1	0	0	0	3216	1001	35	2	505	2	CELF2	10	11299727	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		11299727	124235020	16	717											
UBASH3B	84959	broad.mit.edu	37	11	122680513	122680513	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr11:122680513G>A	ENST00000284273.5	+	14	2244	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	623	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GAATATGGCAGCTGACAGATC	0.443																																						uc001pyi.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1867-1869)caG>caA		Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.							82	83	83					11																	122680513		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122680513G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1869G>A	11.37:g.122680513G>A			Somatic					p.Q623Q	NM_032873	NP_116262	WXS	Illumina GAIIx	Phase_I	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	13	2229	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	623			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1869G>A	CCDS31694.1																																																																																				0.443	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		3	110	0	0	0	1	0	3	110					A	122680513	G	A	122680513	2	1	32	1	0	0	0	0	0	0	0	1	16837	962	34	2		2	UBASH3B	11	122680513	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		122680513	12326003	17	718											
OR4K5	79317	broad.mit.edu	37	14	20389468	20389468	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr14:20389468A>C	ENST00000315915.4	+	1	728	c.703A>C	c.(703-705)Aag>Cag	p.K235Q		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	235						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCAATGGCAAAGGCATTTTC	0.418																																						uc010tkw.2																			0		p.A234P(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(703-705)Aag>Cag		Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.							258	271	267					14																	20389468		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389468A>C	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.703A>C	14.37:g.20389468A>C	ENSP00000319511:p.Lys235Gln		Somatic					p.K235Q	NM_001005483	NP_001005483	WXS	Illumina GAIIx	Phase_I	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	703	+	all_cancers(95;0.00108)		235					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.703A>C	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.577984	0.28180	.	.	ENSG00000176281	ENST00000315915	T	0.00372	7.73	4.52	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.117100	0.37393	N	0.002107	T	0.01976	0.0062	H	0.99732	4.735	0.22610	N	0.998935	D	0.89917	1.0	D	0.79108	0.992	T	0.35919	-0.9769	10	0.87932	D	0	.	8.3313	0.32189	0.9041:0.0:0.0959:0.0	.	235	Q8NGD3	OR4K5_HUMAN	Q	235	ENSP00000319511:K235Q	ENSP00000319511:K235Q	K	+	1	0	OR4K5	19459308	1.000000	0.71417	0.024000	0.17045	0.005000	0.04900	6.139000	0.71728	0.760000	0.33108	-0.253000	0.11424	AAG		0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		21	541	0	0	0	1	0	21	541					C	20389468	A	C	20389468	3	2	32	1	0	0	0	0	1	0	0	0	11073	15	1	5	705	5	OR4K5	14	20389468	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08		20389468	86960072	18	719											
MCTP2	55784	broad.mit.edu	37	15	94858758	94858758	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr15:94858758G>A	ENST00000357742.4	+	3	529	c.529G>A	c.(529-531)Gta>Ata	p.V177I	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Splice_Site_p.V177I|MCTP2_ENST00000543482.1_Splice_Site_p.V177I	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	177					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCTGTGCAGGTACCGGGGGA	0.512																																						uc002btj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.e3-1		Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.							90	73	79					15																	94858758		2197	4298	6495	SO:0001630	splice_region_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94858758G>A	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.529-1G>A	15.37:g.94858758G>A			Somatic				MCTP2_uc010urg.1_Splice_Site_p.V177_splice|MCTP2_uc002bti.2_Splice_Site_p.V177_splice|MCTP2_uc010boj.3_Splice_Site|MCTP2_uc010bok.3_Splice_Site_p.V177_splice|MCTP2_uc002btg.4_Splice_Site_p.V177_splice|MCTP2_uc002bth.4_Splice_Site_p.V177_splice	p.V177_splice	NM_018349	NP_060819	WXS	Illumina GAIIx	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		3	594	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		177					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Splice_Site	SNP	ENST00000357742.4	37	c.529_splice	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	0.970	-0.700359	0.03279	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.69806	-0.43;-0.21;-0.06	6.07	-0.562	0.11781	C2 calcium/lipid-binding domain, CaLB (1);	1.003210	0.08035	N	0.994205	T	0.43277	0.1240	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.12013	0.002;0.0;0.0;0.001;0.005	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.14615	-1.0466	9	.	.	.	.	10.6672	0.45736	0.5048:0.0:0.4952:0.0	.	177;177;177;177;177	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	I	177	ENSP00000438521:V177I;ENSP00000395109:V177I;ENSP00000350377:V177I	.	V	+	1	0	MCTP2	92659762	0.001000	0.12720	0.028000	0.17463	0.042000	0.13812	-0.286000	0.08399	-0.285000	0.09089	-0.290000	0.09829	GTA		0.512	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	Missense_Mutation	3	39	0	0	0	1	0	3	39					A	94858758	G	A	94858758	5	1	32	1	0	0	0	0	0	0	1	0	9401	1275	44	2	539	2	MCTP2	15	94858758	Splice_Site	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		94858758	7672634	19	720											
QPRT	23475	broad.mit.edu	37	16	29708392	29708392	+	Missense_Mutation	SNP	G	G	A	rs147793931	byFrequency	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:29708392G>A	ENST00000395384.4	+	3	786	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Missense_Mutation_p.V61M	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	209					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCAGGAGGCCGTGCAGGCAGC	0.657																																						uc002dto.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(625-627)Gtg>Atg		Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	Niacin(DB00627)	G	MET/VAL	1,4393		0,1,2196	26	24	24		625	-6.6	0.0	16	dbSNP_134	24	2,8598		0,2,4298	yes	missense	QPRT	NM_014298.3	21	0,3,6494	AA,AG,GG		0.0233,0.0228,0.0231	possibly-damaging	209/298	29708392	3,12991	2197	4300	6497	SO:0001583	missense	23475				protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	g.chr16:29708392G>A	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"nicotinate-nucleotide pyrophosphorylase (carboxylating)"	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.625G>A	16.37:g.29708392G>A	ENSP00000378782:p.Val209Met		Somatic				BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Non-coding_Transcript	p.V209M	NM_014298	NP_055113	WXS	Illumina GAIIx	Phase_I	Q15274	NADC_HUMAN			2	703	+			209					Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	c.625G>A	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	9.382	1.073194	0.20147	2.28E-4	2.33E-4	ENSG00000103485	ENST00000219771;ENST00000395384	T	0.30714	1.52	4.97	-6.57	0.01842	Aldolase-type TIM barrel (1);Quinolinate phosphoribosyl transferase, C-terminal (2);	1.175030	0.06391	N	0.717076	T	0.21103	0.0508	L	0.49350	1.555	0.09310	N	1	B	0.25563	0.129	B	0.20767	0.031	T	0.35500	-0.9786	10	0.44086	T	0.13	-19.2333	4.0328	0.09716	0.0796:0.3559:0.151:0.4134	.	209	Q15274	NADC_HUMAN	M	64;209	ENSP00000378782:V209M	ENSP00000219771:V64M	V	+	1	0	QPRT	29615893	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-1.062000	0.03468	-0.707000	0.05022	0.491000	0.48974	GTG		0.657	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		3	31	0	0	0	1	0	3	31					A	29708392	G	A	29708392	3	1	32	1	0	0	0	0	1	0	0	0	12876	1145	40	1	635	1	QPRT	16	29708392	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		29708392	60646361	20	721											
KIAA0895L	653319	broad.mit.edu	37	16	67211930	67211930	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67211930G>A	ENST00000290881.7	-	7	2160	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	KIAA0895L_ENST00000561621.1_Silent_p.C408C|KIAA0895L_ENST00000563902.1_Silent_p.L412L|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	412										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AGTGAGGTCAGCAACGGGAAA	0.607																																						uc002ert.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1234-1236)Ctg>Ttg		Homo sapiens KIAA0895-like (KIAA0895L), mRNA.							53	51	51					16																	67211930		2006	4184	6190	SO:0001819	synonymous_variant	653319							g.chr16:67211930G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1234C>T	16.37:g.67211930G>A			Somatic				KIAA0895L_uc002err.3_Intron|KIAA0895L_uc002ers.3_Silent_p.L257L|KIAA0895L_uc002eru.3_Silent_p.C408C	p.L412L	NM_001040715	NP_001035805	WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			5	2069	-			412					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.1234C>T	CCDS42177.1																																																																																				0.607	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		3	88	0	0	0	1	0	3	88					A	67211930	G	A	67211930	2	1	32	1	0	0	0	0	0	0	0	1	8198	962	34	2		2	KIAA0895L	16	67211930	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	37503538	67211930	23142823	21	722											
SLC12A4	6560	broad.mit.edu	37	16	67979074	67979074	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67979074C>A	ENST00000316341.3	-	23	3222	c.3082G>T	c.(3082-3084)Gtc>Ttc	p.V1028F	SLC12A4_ENST00000576616.1_Missense_Mutation_p.V1028F|SLC12A4_ENST00000422611.2_Missense_Mutation_p.V1030F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.V980F|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V1022F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V997F|SLC12A4_ENST00000338335.3_3'UTR|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1028					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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGACAATGACTTCATTGAGC	0.577																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(3088-3090)Gtc>Ttc		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						139	127	131					16																	67979074		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979074C>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3082G>T	16.37:g.67979074C>A	ENSP00000318557:p.Val1028Phe		Somatic				LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.V1022F|SLC12A4_uc010vkh.1_Missense_Mutation_p.V997F|SLC12A4_uc002euz.2_Missense_Mutation_p.V1028F|SLC12A4_uc010vki.1_Missense_Mutation_p.V1022F|SLC12A4_uc002eva.2_Missense_Mutation_p.V1028F	p.V1030F	NM_001145962	NP_001139434	WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	21	3128	-		Ovarian(137;0.192)	1028					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.3088G>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343899	0.95807	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.90145	3.09	0.80722	D	1	D;P;D;P;D;P	0.63046	0.973;0.956;0.992;0.947;0.974;0.911	P;P;D;P;D;P	0.64042	0.73;0.714;0.921;0.805;0.913;0.643	D	0.87188	0.2232	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	1030;1022;997;1022;1028;1028	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	F	1030;997;1022;1028	ENSP00000395983:V1030F;ENSP00000438334:V997F;ENSP00000445962:V1022F;ENSP00000318557:V1028F	ENSP00000318557:V1028F	V	-	1	0	SLC12A4	66536575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.822000	0.97130	0.557000	0.71058	GTC		0.577	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		4	146	0	0	0	1	0	4	146					A	67979074	C	A	67979074	3	1	32	1	0	0	0	0	1	0	0	0	14385	565	20	4	183	4	SLC12A4	16	67979074	Missense_Mutation	SNP	C	TCGA-BJ-A3PT-01A-12D-A21Z-08	767144	67979074	22375679	22	723											
KDM6B	23135	broad.mit.edu	37	17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr17:7750709G>C	ENST00000448097.2	+	10	1527	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_ENST00000254846.5_Missense_Mutation_p.S399T			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	399	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S399T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672																																						uc002giw.1																			1	Substitution - Missense(1)	p.S399T(2)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1195-1197)aGc>aCc		Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.							45	54	51					17																	7750709		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750709G>C	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1196G>C	17.37:g.7750709G>C	ENSP00000412513:p.Ser399Thr		Somatic				KDM6B_uc002gix.3_5'Flank	p.S399T	NM_001080424	NP_001073893	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			9	1572	+			399			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1196G>C		.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002662	0.07819	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08458	3.09;3.09	2.79	0.726	0.18248	.	0.509864	0.16624	N	0.206341	T	0.03434	0.0099	N	0.08118	0	0.20196	N	0.999927	B	0.11235	0.004	B	0.13407	0.009	T	0.45205	-0.9277	10	0.05351	T	0.99	-5.8581	10.8708	0.46883	0.0:0.4056:0.5944:0.0	.	399	O15054-1	.	T	399	ENSP00000254846:S399T;ENSP00000412513:S399T	ENSP00000254846:S399T	S	+	2	0	KDM6B	7691434	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.396000	0.34531	0.250000	0.21479	-0.234000	0.12200	AGC		0.672	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	167	0	0	0	1	0	4	167					C	7750709	G	C	7750709	3	2	32	1	0	0	0	0	1	0	0	0	8138	971	34	4	1222	4	KDM6B	17	7750709	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		7750709	73444501	23	724											
GYS1	2997	broad.mit.edu	37	19	49488755	49488755	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr19:49488755G>A	ENST00000323798.3	-	5	982	c.786C>T	c.(784-786)acC>acT	p.T262T	GYS1_ENST00000541188.1_Silent_p.T182T|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Silent_p.T182T|GYS1_ENST00000457974.1_5'Flank|GYS1_ENST00000263276.6_Silent_p.T198T	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	262					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCTCGATGGCGGTGATCTGGG	0.582																																						uc002plp.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(784-786)acC>acT		Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.							127	96	107					19																	49488755		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49488755G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.786C>T	19.37:g.49488755G>A			Somatic				GYS1_uc010emm.3_Silent_p.T198T|GYS1_uc010xzz.2_Silent_p.T182T|GYS1_uc010yaa.1_Non-coding_Transcript	p.T262T	NM_002103	NP_002094	WXS	Illumina GAIIx	Phase_I	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	4	1027	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	262					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.786C>T	CCDS12747.1																																																																																				0.582	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		3	74	0	0	0	1	0	3	74					A	49488755	G	A	49488755	2	1	32	1	0	0	0	0	0	0	0	1	6912	1103	39	1		1	GYS1	19	49488755	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		49488755	9640228	24	725											
XRN2	22803	broad.mit.edu	37	20	21346221	21346221	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr20:21346221G>A	ENST00000377191.3	+	26	2430	c.2335G>A	c.(2335-2337)Gca>Aca	p.A779T	XRN2_ENST00000430571.2_Missense_Mutation_p.A703T|XRN2_ENST00000539513.1_Missense_Mutation_p.A725T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	779					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AAAGCCAGCAGCAGTACTGAA	0.438																																						uc002wsf.1																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2335-2337)Gca>Aca		Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.							96	95	96					20																	21346221		2203	4300	6503	SO:0001583	missense	22803				DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346221G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2335G>A	20.37:g.21346221G>A	ENSP00000366396:p.Ala779Thr		Somatic				XRN2_uc002wsg.1_Missense_Mutation_p.A703T|XRN2_uc010zsk.1_Missense_Mutation_p.A725T	p.A779T	NM_012255	NP_036387	WXS	Illumina GAIIx	Phase_I	Q9H0D6	XRN2_HUMAN			25	2430	+			779					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2335G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569493	0.28003	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.18338	2.22;2.22;2.22	5.95	0.00139	0.14046	.	0.422063	0.29572	N	0.011779	T	0.05456	0.0144	N	0.02011	-0.69	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	10	0.22706	T	0.39	-0.1946	9.8893	0.41281	0.3764:0.4698:0.1538:0.0	.	779	Q9H0D6	XRN2_HUMAN	T	779;703;725	ENSP00000366396:A779T;ENSP00000413548:A703T;ENSP00000441113:A725T	ENSP00000366396:A779T	A	+	1	0	XRN2	21294221	1.000000	0.71417	0.956000	0.39512	0.422000	0.31414	1.577000	0.36515	0.132000	0.18615	-0.768000	0.03414	GCA		0.438	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		3	103	0	0	0	1	0	3	103					A	21346221	G	A	21346221	3	1	32	1	0	0	0	0	1	0	0	0	17457	971	34	2	2437	2	XRN2	20	21346221	Missense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		21346221	41679299	25	726											
CHEK2	11200	broad.mit.edu	37	22	29091787	29091787	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr22:29091787G>C	ENST00000405598.1	-	12	1361	c.1170C>G	c.(1168-1170)taC>taG	p.Y390*	CHEK2_ENST00000382580.2_Nonsense_Mutation_p.Y433*|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Nonsense_Mutation_p.Y169*|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.Y390*|CHEK2_ENST00000402731.1_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.Y390*|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAGGCGCCAAGTAGGTGGGGG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adt.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1297-1299)taC>taG	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.							56	57	57					22																	29091787		2203	4300	6503	SO:0001587	stop_gained	11200				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091787G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1170C>G	22.37:g.29091787G>C	ENSP00000386087:p.Tyr390*		Somatic				CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Nonsense_Mutation_p.Y169*|CHEK2_uc010gvh.1_Nonsense_Mutation_p.Y299*|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Nonsense_Mutation_p.Y390*|CHEK2_uc003adv.1_Nonsense_Mutation_p.Y361*|CHEK2_uc003adx.1_Nonsense_Mutation_p.Y169*	p.Y433*	NM_001005735	NP_001005735	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			11	1371	-			390			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	ENST00000405598.1	37	c.1299C>G	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	48|48	14.325224|14.325224	0.99790|0.99790	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|.	.|.	.|.	5.89|5.89	2.09|2.09	0.27110|0.27110	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.27027|.	0.0662|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15809|.	-1.0424|.	4|.	.|0.02654	.|T	.|1	-30.0052|-30.0052	7.6633|7.6633	0.28415|0.28415	0.4602:0.0:0.5398:0.0|0.4602:0.0:0.5398:0.0	.|.	.|.	.|.	.|.	S|X	134|361;299;169;390;390;390;433;299;361	.|.	.|ENSP00000329178:Y390X	T|Y	-|-	2|3	0|2	CHEK2|CHEK2	27421787|27421787	0.999000|0.999000	0.42202|0.42202	0.797000|0.797000	0.32132|0.32132	0.912000|0.912000	0.54170|0.54170	0.561000|0.561000	0.23515|0.23515	0.499000|0.499000	0.27970|0.27970	0.650000|0.650000	0.86243|0.86243	ACT|TAC		0.423	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		8	95	0	0	0	1	0	8	95					C	29091787	G	C	29091787	4	2	32	1	0	0	0	0	0	1	0	0	3335	1024	36	4	481	4	CHEK2	22	29091787	Nonsense_Mutation	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08		29091787	22212779	26	727											
FRMPD4	9758	broad.mit.edu	37	X	12734288	12734288	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:12734288A>G	ENST00000380682.1	+	15	2216	c.1710A>G	c.(1708-1710)atA>atG	p.I570M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	570					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGCCCAGATAACATACATAG	0.468																																						uc004cuz.2																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1708-1710)atA>atG		Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.							127	117	120					X																	12734288		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734288A>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1710A>G	X.37:g.12734288A>G	ENSP00000370057:p.Ile570Met		Somatic				FRMPD4_uc011mij.2_Missense_Mutation_p.I562M	p.I570M	NM_014728	NP_055543	WXS	Illumina GAIIx	Phase_I	Q14CM0	FRPD4_HUMAN			14	2216	+			570					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1710A>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546416	0.27652	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.26223	1.75	5.47	-1.94	0.07571	.	0.273852	0.41712	D	0.000827	T	0.14141	0.0342	L	0.36672	1.1	0.21950	N	0.999458	B;B	0.23540	0.017;0.087	B;B	0.14023	0.004;0.01	T	0.08806	-1.0704	10	0.44086	T	0.13	.	4.2688	0.10776	0.2865:0.4953:0.0989:0.1193	.	562;570	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	M	570;561;559	ENSP00000370057:I570M	ENSP00000304583:I559M	I	+	3	3	FRMPD4	12644209	0.914000	0.31030	0.773000	0.31616	0.996000	0.88848	0.196000	0.17176	-0.792000	0.04480	0.430000	0.28490	ATA		0.468	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		10	201	0	0	0	1	0	10	201					G	12734288	A	G	12734288	3	3	32	1	0	0	0	0	1	0	0	0	6059	352	13	3	1768	3	FRMPD4	23	12734288	Missense_Mutation	SNP	A	TCGA-BJ-A3PT-01A-12D-A21Z-08		12734288	142536272	27	728											
PNCK	139728	broad.mit.edu	37	X	152936612	152936612	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:152936612G>A	ENST00000370150.1	-	8	826	c.648C>T	c.(646-648)agC>agT	p.S216S	PNCK_ENST00000340888.3_Silent_p.S216S|PNCK_ENST00000370142.1_Silent_p.S239S|PNCK_ENST00000447676.2_Silent_p.S299S|PNCK_ENST00000370145.4_Silent_p.S233S|PNCK_ENST00000393831.2_Silent_p.S239S|PNCK_ENST00000475172.1_5'Flank			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGGGTCGCTCTCGTCGT	0.602																																						uc011myu.2																			0				breast(2)|lung(3)|skin(1)	6						c.(895-897)agC>agT		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							61	60	60					X																	152936612		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936612G>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.648C>T	X.37:g.152936612G>A			Somatic				PNCK_uc011myt.2_Silent_p.S233S|PNCK_uc004fhz.4_Silent_p.S114S|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_3'UTR|PNCK_uc011myw.2_3'UTR	p.S299S	NM_001039582	NP_001034671	WXS	Illumina GAIIx	Phase_I	Q6P2M8	KCC1B_HUMAN			7	1083	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		216			Calmodulin-binding (By similarity).		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.897C>T																																																																																					0.602	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		51	124	0	0	0	1	0	51	124					A	152936612	G	A	152936612	2	1	32	1	0	0	0	0	0	0	0	1	12145	1078	38	1		1	PNCK	23	152936612	Silent	SNP	G	TCGA-BJ-A3PT-01A-12D-A21Z-08	140202324	152936612	2333948	28	729											
FAM76A	199870	broad.mit.edu	37	1	28087061	28087062	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr1:28087061_28087062delCA	ENST00000373954.6	+	9	995_996	c.893_894delCA	c.(892-894)tcafs	p.S298fs	FAM76A_ENST00000419687.2_Frame_Shift_Del_p.S218fs|FAM76A_ENST00000373949.1_Frame_Shift_Del_p.S269fs|FAM76A_ENST00000010299.6_Frame_Shift_Del_p.S332fs|FAM76A_ENST00000234549.7_Frame_Shift_Del_p.S303fs	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	298										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGAAGTCAGAGAAGTCAG	0.48																																						uc001bor.3																			0				endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9						c.(994-996)tcafs		Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	199870							g.chr1:28087061_28087062delCA	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.893_894delCA	1.37:g.28087061_28087062delCA	ENSP00000363065:p.Ser298fs		Somatic				FAM76A_uc001boq.3_Frame_Shift_Del_p.S298fs|FAM76A_uc001bos.3_Frame_Shift_Del_p.S303fs|FAM76A_uc001bot.3_Frame_Shift_Del_p.S269fs|FAM76A_uc010ofm.2_Frame_Shift_Del_p.S218fs	p.S332fs	NM_001143912	NP_001137384	WXS	Illumina GAIIx	Phase_I	Q8TAV0	FA76A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)	9	1097_1098	+		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)	298					B4DWT3|O95565|O95566|Q8N7J5	Frame_Shift_Del	DEL	ENST00000373954.6	37	c.995_996delCA	CCDS309.1																																																																																				0.48	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		19	17						19	17	---	---	---	---	-	28087062	CA	-	28087061	7	5	33	1	0	1	0	1	0	0	0	0	5624	838	29	0	1033	0	FAM76A	1	28087061	Frame_Shift_Del	DEL	CA	TCGA-BJ-A3PU-01A-11D-A21Z-08		28087061	221163560	1	730											
CSRNP3	80034	broad.mit.edu	37	2	166536026	166536026	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr2:166536026C>T	ENST00000342316.4	+	5	1793	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	CSRNP3_ENST00000314499.7_Silent_p.S507S|CSRNP3_ENST00000409420.1_Silent_p.S539S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	507					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTCCTCTTCCGAAAATGATA	0.512																																						uc002udf.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1519-1521)tcC>tcT		Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.							89	75	80					2																	166536026		2203	4300	6503	SO:0001819	synonymous_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166536026C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1521C>T	2.37:g.166536026C>T			Somatic				CSRNP3_uc002udg.3_Silent_p.S507S	p.S507S	NM_001172173	NP_079245	WXS	Illumina GAIIx	Phase_I	Q8WYN3	CSRN3_HUMAN			6	1897	+			507					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	ENST00000342316.4	37	c.1521C>T	CCDS2225.1																																																																																				0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		16	37	0	0	0	1	0	16	37					T	166536026	C	T	166536026	2	4	33	1	0	0	0	0	0	0	0	1	3965	639	23	1		1	CSRNP3	2	166536026	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08		166536026	76663347	2	731											
SCAP	22937	broad.mit.edu	37	3	47470042	47470042	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:47470042T>A	ENST00000265565.5	-	4	783	c.371A>T	c.(370-372)cAa>cTa	p.Q124L	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	124					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCCACCAGTTGGAATGCCCG	0.527																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(370-372)cAa>cTa		Homo sapiens SREBF chaperone (SCAP), mRNA.							160	149	153					3																	47470042		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding	g.chr3:47470042T>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.371A>T	3.37:g.47470042T>A	ENSP00000265565:p.Gln124Leu		Somatic				SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	p.Q124L	NM_012235	NP_036367	WXS	Illumina GAIIx	Phase_I	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	3	626	-			124					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.371A>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602794	0.46423	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603	T	0.80033	-1.33	5.81	5.81	0.92471	.	0.135790	0.53938	D	0.000058	T	0.70116	0.3187	N	0.25647	0.755	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.66400	-0.5933	10	0.51188	T	0.08	-19.5949	11.7752	0.51981	0.0:0.0:0.1468:0.8532	.	124	Q12770	SCAP_HUMAN	L	124	ENSP00000265565:Q124L	ENSP00000265565:Q124L	Q	-	2	0	SCAP	47445046	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.835000	0.39181	2.210000	0.71456	0.533000	0.62120	CAA		0.527	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		7	201	0	0	0	1	0	7	201					A	47470042	T	A	47470042	3	1	33	1	0	0	0	0	1	0	0	0	13877	1812	63	5	3548	5	SCAP	3	47470042	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08		47470042	150552388	3	732											
TNIK	23043	broad.mit.edu	37	3	170802927	170802927	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:170802927T>A	ENST00000436636.2	-	25	3322	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	TNIK_ENST00000341852.6_Missense_Mutation_p.D909V|TNIK_ENST00000470834.1_Missense_Mutation_p.D956V|TNIK_ENST00000357327.5_Missense_Mutation_p.D964V|TNIK_ENST00000369326.5_Missense_Mutation_p.D971V|TNIK_ENST00000538048.1_Missense_Mutation_p.D945V|TNIK_ENST00000460047.1_Missense_Mutation_p.D930V|TNIK_ENST00000488470.1_Missense_Mutation_p.D938V|TNIK_ENST00000475336.1_Missense_Mutation_p.D901V|TNIK_ENST00000284483.8_Missense_Mutation_p.D985V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	993	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGATTCCTCATCCTCTTCATC	0.478																																						uc003fhh.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2977-2979)gAt>gTt		Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.							62	63	62					3																	170802927		1905	4121	6026	SO:0001583	missense	23043				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802927T>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2978A>T	3.37:g.170802927T>A	ENSP00000399511:p.Asp993Val		Somatic				TNIK_uc003fhi.2_Missense_Mutation_p.D938V|TNIK_uc003fhj.2_Missense_Mutation_p.D964V|TNIK_uc003fhk.2_Missense_Mutation_p.D985V|TNIK_uc003fhl.2_Missense_Mutation_p.D909V|TNIK_uc003fhm.2_Missense_Mutation_p.D930V|TNIK_uc003fhn.2_Missense_Mutation_p.D956V|TNIK_uc003fho.2_Missense_Mutation_p.D901V|TNIK_uc003fhg.2_Missense_Mutation_p.D171V|TNIK_uc003fhp.3_5'Flank	p.D993V	NM_015028	NP_055843	WXS	Illumina GAIIx	Phase_I	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3323	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		993			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2978A>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698264	0.48307	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73575	-0.74;-0.73;-0.75;-0.76;-0.74;-0.76;-0.75;-0.76;-0.76;-0.75	5.37	5.37	0.77165	.	0.323692	0.32640	N	0.005822	T	0.71484	0.3345	N	0.08118	0	0.80722	D	1	P;P;P;P;P;D;P;D	0.65815	0.95;0.758;0.95;0.95;0.503;0.978;0.95;0.995	P;B;P;P;B;P;P;P	0.62184	0.698;0.425;0.698;0.698;0.198;0.836;0.698;0.899	T	0.76277	-0.3018	10	0.45353	T	0.12	.	15.5421	0.76062	0.0:0.0:0.0:1.0	.	901;956;930;909;985;964;938;993	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	V	993;971;945;909;985;901;964;930;938;956	ENSP00000399511:D993V;ENSP00000358332:D971V;ENSP00000443278:D945V;ENSP00000345352:D909V;ENSP00000284483:D985V;ENSP00000418156:D901V;ENSP00000349880:D964V;ENSP00000418916:D930V;ENSP00000418378:D938V;ENSP00000419990:D956V	ENSP00000284483:D985V	D	-	2	0	TNIK	172285621	1.000000	0.71417	0.997000	0.53966	0.302000	0.27658	7.421000	0.80204	2.254000	0.74563	0.460000	0.39030	GAT		0.478	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	18	0	0	0	1	0	5	18					A	170802927	T	A	170802927	3	1	33	1	0	0	0	0	1	0	0	0	16310	1435	50	5	1140	5	TNIK	3	170802927	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	123332885	170802927	27219503	4	733											
FGF5	2250	broad.mit.edu	37	4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr4:81188003C>T	ENST00000312465.7	+	1	251	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000456523.3_Missense_Mutation_p.L9F	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627																																						uc003hmd.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(25-27)Ctc>Ttc		Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.							41	45	43					4																	81188003		2202	4299	6501	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188003C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.25C>T	4.37:g.81188003C>T	ENSP00000311697:p.Leu9Phe		Somatic				FGF5_uc003hme.3_Missense_Mutation_p.L9F	p.L9F	NM_004464	NP_004455	WXS	Illumina GAIIx	Phase_I	P12034	FGF5_HUMAN			0	262	+			9					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.25C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240743	0.58995	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.11712	2.75;2.75	5.36	4.5	0.54988	.	0.504072	0.19266	N	0.118534	T	0.15825	0.0381	N	0.24115	0.695	0.25746	N	0.985108	D;P	0.63046	0.992;0.883	P;P	0.62298	0.9;0.459	T	0.04693	-1.0933	10	0.59425	D	0.04	.	8.6866	0.34240	0.1571:0.7677:0.0:0.0751	.	9;9	P12034-2;P12034	.;FGF5_HUMAN	F	9	ENSP00000311697:L9F;ENSP00000398353:L9F	ENSP00000311697:L9F	L	+	1	0	FGF5	81407027	0.990000	0.36364	0.997000	0.53966	0.872000	0.50106	0.465000	0.22004	1.436000	0.47453	0.561000	0.74099	CTC		0.627	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	91	0	0	0	1	0	3	91					T	81188003	C	T	81188003	3	4	33	1	0	0	0	0	1	0	0	0	5855	681	24	2	27	2	FGF5	4	81188003	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08		81188003	109966273	5	734											
LIN54	132660	broad.mit.edu	37	4	83857237	83857237	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr4:83857237G>C	ENST00000340417.3	-	11	2119	c.1742C>G	c.(1741-1743)cCt>cGt	p.P581R	LIN54_ENST00000505397.1_Missense_Mutation_p.P581R|LIN54_ENST00000395283.2_Missense_Mutation_p.P492R|LIN54_ENST00000446851.2_Missense_Mutation_p.P360R|LIN54_ENST00000510557.1_Missense_Mutation_p.P360R|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Missense_Mutation_p.P360R|LIN54_ENST00000506560.1_Missense_Mutation_p.P492R	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	581	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCCTATCTTAGGCTTAAAGGC	0.378																																						uc003hnx.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(1741-1743)cCt>cGt		Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.							160	142	148					4																	83857237		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83857237G>C	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1742C>G	4.37:g.83857237G>C	ENSP00000341947:p.Pro581Arg		Somatic				LIN54_uc003hnz.3_Missense_Mutation_p.P360R|LIN54_uc003hny.3_Missense_Mutation_p.P180R|LIN54_uc010ijt.2_Missense_Mutation_p.P492R|LIN54_uc010iju.2_Missense_Mutation_p.P180R|LIN54_uc010ijv.2_Missense_Mutation_p.P360R	p.P581R	NM_194282	NP_919258	WXS	Illumina GAIIx	Phase_I	Q6MZP7	LIN54_HUMAN			10	2120	-		Hepatocellular(203;0.114)	581					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1742C>G	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860215	0.71834	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.85239	0.1037	9	0.87932	D	0	-16.2552	19.0569	0.93069	0.0:0.0:1.0:0.0	.	492;453;581	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	R	581;492;360;360;360;492;581	.	ENSP00000341947:P581R	P	-	2	0	LIN54	84076261	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	9.581000	0.98210	2.732000	0.93576	0.650000	0.86243	CCT		0.378	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		17	94	0	0	0	1	0	17	94					C	83857237	G	C	83857237	3	2	33	1	0	0	0	0	1	0	0	0	8809	1000	35	4	519	4	LIN54	4	83857237	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	2669234	83857237	107297039	6	735											
DMGDH	29958	broad.mit.edu	37	5	78322341	78322341	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:78322341A>C	ENST00000255189.3	-	13	2124	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	DMGDH_ENST00000380311.4_Missense_Mutation_p.M498R|DMGDH_ENST00000540686.1_Missense_Mutation_p.M319R	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	699					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCTGCATTCATGATAGCGTC	0.512																																						uc003kfs.3																			0		p.M699I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2095-2097)aTg>aGg		Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.							106	96	99					5																	78322341		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78322341A>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2096T>G	5.37:g.78322341A>C	ENSP00000255189:p.Met699Arg		Somatic				DMGDH_uc011cte.1_Missense_Mutation_p.M549R|DMGDH_uc011ctf.1_Missense_Mutation_p.M498R|DMGDH_uc011ctg.1_Missense_Mutation_p.M319R	p.M699R	NM_013391	NP_037523	WXS	Illumina GAIIx	Phase_I	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	12	2102	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	699					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2096T>G	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047714	0.75846	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.52	5.52	0.82312	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	M	0.67953	2.075	0.80722	D	1	D;D;B;B	0.63880	0.993;0.973;0.168;0.202	P;P;B;B	0.61800	0.878;0.894;0.085;0.139	T	0.82214	-0.0568	10	0.36615	T	0.2	.	15.6338	0.76933	1.0:0.0:0.0:0.0	.	319;498;549;699	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	R	699;538;498;319;549	ENSP00000255189:M699R;ENSP00000430972:M538R;ENSP00000369667:M498R;ENSP00000439478:M319R	ENSP00000255189:M699R	M	-	2	0	DMGDH	78358097	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	9.154000	0.94694	2.107000	0.64212	0.459000	0.35465	ATG		0.512	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		4	96	0	0	0	1	0	4	96					C	78322341	A	C	78322341	3	2	33	1	0	0	0	0	1	0	0	0	4581	217	8	5	520	5	DMGDH	5	78322341	Missense_Mutation	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		78322341	102592919	7	736											
PCDHB6	56130	broad.mit.edu	37	5	140530372	140530372	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:140530372C>A	ENST00000231136.1	+	1	534	c.534C>A	c.(532-534)caC>caA	p.H178Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCACTTCCACGTTCTCACCC	0.547																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(532-534)caC>caA		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							142	150	147					5																	140530372		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530372C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.534C>A	5.37:g.140530372C>A	ENSP00000231136:p.His178Gln		Somatic					p.H178Q	NM_018939	NP_061762	WXS	Illumina GAIIx	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	534	+			178			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.534C>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541479	0.27563	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.50277	0.75;0.75	4.7	-0.908	0.10517	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52885	0.1762	L	0.39692	1.235	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42120	-0.9470	9	0.66056	D	0.02	.	5.7518	0.18150	0.1253:0.4472:0.0:0.4275	.	178	Q9Y5E3	PCDB6_HUMAN	Q	42;178	ENSP00000438466:H42Q;ENSP00000231136:H178Q	ENSP00000231136:H178Q	H	+	3	2	PCDHB6	140510556	0.000000	0.05858	0.987000	0.45799	0.946000	0.59487	-1.909000	0.01586	-0.058000	0.13177	-0.254000	0.11334	CAC		0.547	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	357	0	0	0	1	0	12	357					A	140530372	C	A	140530372	3	1	33	1	0	0	0	0	1	0	0	0	11546	535	19	4	536	4	PCDHB6	5	140530372	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	62208031	140530372	40384888	8	737											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	65	0	0	0	1	0	38	65					T	140453136	A	T	140453136	3	4	33	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		140453136	18685527	9	738											
MYOM2	9172	broad.mit.edu	37	8	2040223	2040223	+	Silent	SNP	G	G	A	rs574414781		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:2040223G>A	ENST00000262113.4	+	16	2019	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	MYOM2_ENST00000523438.1_Silent_p.T51T	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	626	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACCAAGACGTCGGTGGTGG	0.572													G|||	1	0.000199681	0	0	5008	,	,		18763	0		0	False		,,,				2504	0.001					uc003wpx.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1876-1878)acG>acA		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							196	181	186					8																	2040223		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040223G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1878G>A	8.37:g.2040223G>A			Somatic				MYOM2_uc011kwi.2_Silent_p.T51T	p.T626T	NM_003970	NP_003961	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	15	2016	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	626			Fibronectin type-III 3.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1878G>A	CCDS5957.1																																																																																				0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	218	0	0	0	1	0	6	218					A	2040223	G	A	2040223	2	1	33	1	0	0	0	0	0	0	0	1	10092	1132	40	1		1	MYOM2	8	2040223	Silent	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		2040223	144323799	10	739											
PSD3	23362	broad.mit.edu	37	8	18513180	18513180	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:18513180T>C	ENST00000327040.8	-	10	2290	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	PSD3_ENST00000523619.1_Missense_Mutation_p.I665V|PSD3_ENST00000286485.8_Missense_Mutation_p.I196V|PSD3_ENST00000428502.2_Missense_Mutation_p.I59V|PSD3_ENST00000440756.2_Missense_Mutation_p.I732V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	731	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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)		TCATTCTTGATTGAGTTGTAC	0.373																																						uc003wza.3																			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.(2188-2190)Atc>Gtc		Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.							111	103	106					8																	18513180		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18513180T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2188A>G	8.37:g.18513180T>C	ENSP00000324127:p.Ile730Val		Somatic				PSD3_uc003wyx.4_Missense_Mutation_p.I59V|PSD3_uc003wyy.3_Missense_Mutation_p.I196V|PSD3_uc003wyz.3_Missense_Mutation_p.I31V	p.I730V	NM_015310	NP_056125	WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	9	2291	-			731			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2188A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713769	0.68730	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.52532	U	0.000079	T	0.75961	0.3921	M	0.65975	2.015	0.51012	D	0.9999	D;D;D;D	0.69078	0.994;0.995;0.997;0.992	D;D;D;D	0.79108	0.968;0.98;0.965;0.992	T	0.78623	-0.2132	10	0.87932	D	0	.	12.0105	0.53284	0.0:0.0:0.0:1.0	.	730;731;196;59	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	V	730;732;59;196;59;665	ENSP00000324127:I730V;ENSP00000401704:I732V;ENSP00000286485:I196V;ENSP00000430640:I665V	ENSP00000286485:I196V	I	-	1	0	PSD3	18557460	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.063000	0.64332	2.097000	0.63578	0.519000	0.50382	ATC		0.373	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		3	88	0	0	0	1	0	3	88					C	18513180	T	C	18513180	3	2	33	1	0	0	0	0	1	0	0	0	12648	1493	52	3	983	3	PSD3	8	18513180	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	16472957	18513180	127850842	11	740											
SPTAN1	6709	broad.mit.edu	37	9	131355261	131355261	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:131355261G>A	ENST00000372731.4	+	23	3265		c.e23-1		SPTAN1_ENST00000372739.3_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCTGTGCAGGACACGCATA	0.532																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvm.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.e23-1		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 1, mRNA.							76	60	66					9																	131355261		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131355261G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3156-1G>A	9.37:g.131355261G>A			Somatic				SPTAN1_uc011mbg.2_Intron|SPTAN1_uc011mbh.2_Splice_Site_p.Q1064_splice|SPTAN1_uc004bvl.4_Splice_Site_p.Q1052_splice|SPTAN1_uc004bvn.4_Intron	p.Q1052_splice	NM_001130438	NP_001123910	WXS	Illumina GAIIx	Phase_I	Q13813	SPTA2_HUMAN			23	3298	+			1052					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	37	c.3156_splice	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998181	0.74818	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7891	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130395082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.232000	0.89796	2.761000	0.94854	0.591000	0.81541	.		0.532	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Intron	3	13	0	0	0	1	0	3	13					A	131355261	G	A	131355261	5	1	33	1	0	0	0	0	0	0	1	0	15116	1014	35	2	3241	2	SPTAN1	9	131355261	Splice_Site	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		131355261	9858170	12	741											
RXRA	6256	broad.mit.edu	37	9	137323832	137323832	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:137323832C>T	ENST00000481739.1	+	8	1177	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Silent_p.L278L	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	375	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCATCGTCCTCTTTAACCCTG	0.627																																						uc004cfb.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1123-1125)ctC>ctT		Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						120	97	105					9																	137323832		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137323832C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1125C>T	9.37:g.137323832C>T			Somatic				RXRA_uc004cfc.1_Silent_p.L278L	p.L375L	NM_002957	NP_002948	WXS	Illumina GAIIx	Phase_I	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	7	1287	+			375			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.1125C>T	CCDS35172.1																																																																																				0.627	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		22	24	0	0	0	1	0	22	24					T	137323832	C	T	137323832	2	4	33	1	0	0	0	0	0	0	0	1	13763	900	32	2		2	RXRA	9	137323832	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	5968571	137323832	3889599	13	742											
CNOT2	4848	broad.mit.edu	37	12	70732321	70732321	+	Silent	SNP	A	A	G			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:70732321A>G	ENST00000418359.3	+	11	1450	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000229195.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323																																						uc001svv.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(997-999)aaA>aaG		Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.							87	90	89					12																	70732321		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding	g.chr12:70732321A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.999A>G	12.37:g.70732321A>G			Somatic				CNOT2_uc009zro.3_Silent_p.K333K|CNOT2_uc009zrp.3_Silent_p.K313K|CNOT2_uc009zrq.3_Silent_p.K333K|CNOT2_uc001svw.1_Silent_p.K73K	p.K333K	NM_014515	NP_055330	WXS	Illumina GAIIx	Phase_I	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		9	1581	+	Renal(347;0.236)		333					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.999A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	5.067	0.198090	0.09652	.	.	ENSG00000111596	ENST00000552599	.	.	.	5.71	-0.549	0.11829	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50268	-0.8848	4	.	.	.	-7.611	9.9087	0.41392	0.6553:0.0:0.3447:0.0	.	.	.	.	G	44	.	.	R	+	1	2	CNOT2	69018588	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.180000	0.42537	-0.100000	0.12241	-0.376000	0.06991	AGG		0.323	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			3	107	0	0	0	1	0	3	107					G	70732321	A	G	70732321	2	3	33	1	0	0	0	0	0	0	0	1	3619	69	3	3		3	CNOT2	12	70732321	Silent	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08		70732321	63119574	14	743											
TSPAN8	7103	broad.mit.edu	37	12	71519144	71519144	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:71519144C>A	ENST00000393330.2	-	12	1236	c.684G>T	c.(682-684)atG>atT	p.M228I	TSPAN8_ENST00000247829.3_Missense_Mutation_p.M228I|TSPAN8_ENST00000546561.1_Missense_Mutation_p.M228I|TSPAN8_ENST00000552128.1_Missense_Mutation_p.M145I			P19075	TSN8_HUMAN	tetraspanin 8	228					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATACAGGACCATAGAAAACA	0.353																																						uc001swk.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(682-684)atG>atT		Homo sapiens tetraspanin 8 (TSPAN8), mRNA.							124	115	118					12																	71519144		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71519144C>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.684G>T	12.37:g.71519144C>A	ENSP00000377003:p.Met228Ile		Somatic				TSPAN8_uc009zrt.1_Missense_Mutation_p.M228I|TSPAN8_uc001swj.1_Missense_Mutation_p.M228I	p.M228I	NM_004616	NP_004607	WXS	Illumina GAIIx	Phase_I	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		11	1237	-			228					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.684G>T	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609095	0.46527	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	6.16	4.27	0.50696	.	0.252557	0.49305	N	0.000143	T	0.75428	0.3848	L	0.61387	1.9	0.39786	D	0.972371	P	0.39181	0.663	B	0.41510	0.359	T	0.74893	-0.3509	10	0.30078	T	0.28	.	12.1046	0.53805	0.3307:0.6693:0.0:0.0	.	228	P19075	TSN8_HUMAN	I	228;228;228;145	ENSP00000377003:M228I;ENSP00000247829:M228I;ENSP00000447160:M228I;ENSP00000449820:M145I	ENSP00000247829:M228I	M	-	3	0	TSPAN8	69805411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.873000	0.39558	1.590000	0.49995	0.650000	0.86243	ATG		0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		49	73	0	0	0	1	0	49	73					A	71519144	C	A	71519144	3	1	33	1	0	0	0	0	1	0	0	0	16650	594	21	4	33	4	TSPAN8	12	71519144	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	786823	71519144	62332751	15	744											
TMEM132D	121256	broad.mit.edu	37	12	130184856	130184856	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:130184856C>A	ENST00000422113.2	-	2	793	c.467G>T	c.(466-468)tGg>tTg	p.W156L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	156					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGGTCGTCCCAGTCTCTGCC	0.607																																						uc009zyl.1																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(466-468)tGg>tTg		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							28	28	28					12																	130184856		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184856C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.467G>T	12.37:g.130184856C>A	ENSP00000408581:p.Trp156Leu		Somatic					p.W156L	NM_133448	NP_597705	WXS	Illumina GAIIx	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	795	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	156					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.467G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919216	0.73098	.	.	ENSG00000151952	ENST00000422113	T	0.13089	2.62	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000015	T	0.37999	0.1024	M	0.67625	2.065	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.03818	-1.1001	9	.	.	.	-22.3852	19.0288	0.92946	0.0:1.0:0.0:0.0	.	156	Q14C87	T132D_HUMAN	L	156	ENSP00000408581:W156L	.	W	-	2	0	TMEM132D	128750809	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	7.619000	0.83057	2.472000	0.83506	0.555000	0.69702	TGG		0.607	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	35	0	0	0	1	0	13	35					A	130184856	C	A	130184856	3	1	33	1	0	0	0	0	1	0	0	0	16044	595	21	4	2864	4	TMEM132D	12	130184856	Missense_Mutation	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	58665712	130184856	3667039	16	745											
INO80E	283899	broad.mit.edu	37	16	30012109	30012109	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:30012109G>A	ENST00000563197.1	+	4	1253	c.236G>A	c.(235-237)aGc>aAc	p.S79N	INO80E_ENST00000304516.7_Missense_Mutation_p.S79N|INO80E_ENST00000567705.1_Missense_Mutation_p.S79N|INO80E_ENST00000567254.1_Missense_Mutation_p.S79N	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	79					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCAGATAACAGCGAGACGGAG	0.587																																						uc002dvg.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(235-237)aGc>aAc		Homo sapiens INO80 complex subunit E (INO80E), mRNA.							74	61	65					16																	30012109		2197	4300	6497	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30012109G>A	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"INO80 complex subunits"	26905	protein-coding gene	gene with protein product			"coiled-coil domain containing 95"	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.236G>A	16.37:g.30012109G>A	ENSP00000457016:p.Ser79Asn		Somatic				BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	p.S79N	NM_173618	NP_775889	WXS	Illumina GAIIx	Phase_I	Q8NBZ0	IN80E_HUMAN			3	337	+			79					Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.236G>A	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901111	0.92035	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.61703	1.905	0.54753	D	0.999982	P;D;D	0.57899	0.945;0.981;0.981	D;D;D	0.63597	0.916;0.916;0.916	T	0.76364	-0.2986	9	0.59425	D	0.04	-12.833	17.7145	0.88332	0.0:0.0:1.0:0.0	.	103;79;79	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	N	79;103;79	.	ENSP00000303977:S79N	S	+	2	0	INO80E	29919610	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.287000	0.72671	2.790000	0.95986	0.591000	0.81541	AGC		0.587	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		3	58	0	0	0	1	0	3	58					A	30012109	G	A	30012109	3	1	33	1	0	0	0	0	1	0	0	0	7750	971	34	2	250	2	INO80E	16	30012109	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		30012109	60342644	17	746											
MYST1	84148	broad.mit.edu	37	16	31141896	31141896	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:31141896T>C	ENST00000543774.2	+	10	1461	c.1126T>C	c.(1126-1128)Ttc>Ctc	p.F376L	KAT8_ENST00000219797.4_Missense_Mutation_p.F376L|KAT8_ENST00000448516.2_Missense_Mutation_p.F376L|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	376	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CCTGCGGGACTTCCGGGGCAC	0.647																																						uc002eax.3																			0											c.(1126-1128)Ttc>Ctc		Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 2, mRNA.							46	47	47					16																	31141896		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141896T>C	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1126T>C	16.37:g.31141896T>C	ENSP00000456933:p.Phe376Leu		Somatic				KAT8_uc002eay.3_Missense_Mutation_p.F376L|KAT8_uc002eaz.3_Missense_Mutation_p.F218L|KAT8_uc002eba.3_Missense_Mutation_p.F160L	p.F376L	NM_182958	NP_892003	WXS	Illumina GAIIx	Phase_I	Q9H7Z6	MYST1_HUMAN			8	1144	+			376					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.1126T>C	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	t	15.52	2.857210	0.51376	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.33189	0.99	0.80722	D	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.31833	-0.9929	9	0.10377	T	0.69	-20.6273	13.6347	0.62215	0.0:0.0:0.0:1.0	.	376;376;376	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	L	376	.	ENSP00000219797:F376L	F	+	1	0	KAT8	31049397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.075000	0.62263	0.454000	0.30748	TTC		0.647	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		17	39	0	0	0	1	0	17	39					C	31141896	T	C	31141896	3	2	33	1	0	0	0	0	1	0	0	0	10102	1609	56	3	1160	3	MYST1	16	31141896	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	1129787	31141896	59212857	18	747											
CNOT1	23019	broad.mit.edu	37	16	58560012	58560012	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:58560012G>A	ENST00000317147.5	-	45	6816	c.6484C>T	c.(6484-6486)Ccc>Tcc	p.P2162S	CNOT1_ENST00000245138.4_Missense_Mutation_p.P1013S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2157S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2162					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)		AGAATCCGGGGAGCAATGTTA	0.378																																						uc002env.3																			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.(6484-6486)Ccc>Tcc		Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.							112	111	111					16																	58560012		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.chr16:58560012G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6484C>T	16.37:g.58560012G>A	ENSP00000320949:p.Pro2162Ser		Somatic				CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P2157S|CNOT1_uc002ent.3_Missense_Mutation_p.P100S|CNOT1_uc010vik.2_Missense_Mutation_p.P1119S	p.P2162S	NM_016284	NP_057368	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	44	6777	-			2162					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6484C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118834	0.94385	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.63096	-0.02	5.68	5.68	0.88126	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86012	0.5831	H	0.95574	3.69	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	0.89592	0.3828	10	0.72032	D	0.01	.	18.7868	0.91959	0.0:0.0:1.0:0.0	.	1013;2162;2157	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	2162;856;167;1013	ENSP00000320949:P2162S	ENSP00000245138:P1013S	P	-	1	0	CNOT1	57117513	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.626000	0.98410	2.682000	0.91365	0.557000	0.71058	CCC		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		32	94	0	0	0	1	0	32	94					A	58560012	G	A	58560012	3	1	33	1	0	0	0	0	1	0	0	0	3617	1174	41	2	666	2	CNOT1	16	58560012	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	27418116	58560012	31794741	19	748											
TTC39C	125488	broad.mit.edu	37	18	21646063	21646063	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr18:21646063G>A	ENST00000317571.3	+	3	540	c.304G>A	c.(304-306)Gct>Act	p.A102T	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.A41T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	102										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGTGAAGAGGCTGGAGTAAT	0.358																																						uc002kuw.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(304-306)Gct>Act		Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.							116	128	124					18																	21646063		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21646063G>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.304G>A	18.37:g.21646063G>A	ENSP00000323645:p.Ala102Thr		Somatic				TTC39C_uc002kuu.3_Missense_Mutation_p.A41T	p.A102T	NM_001135993	NP_694943	WXS	Illumina GAIIx	Phase_I	Q8N584	TT39C_HUMAN			2	756	+			102					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.304G>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103513	0.20632	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.050625	0.85682	D	0.000000	T	0.40694	0.1127	L	0.36672	1.1	0.80722	D	1	B	0.26902	0.163	B	0.27380	0.079	T	0.21211	-1.0252	10	0.14252	T	0.57	-1.7976	19.1675	0.93562	0.0:0.0:1.0:0.0	.	102	Q8N584	TT39C_HUMAN	T	41;102	ENSP00000306598:A41T;ENSP00000323645:A102T	ENSP00000306598:A41T	A	+	1	0	TTC39C	19900061	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.237000	0.65360	2.545000	0.85829	0.561000	0.74099	GCT		0.358	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	41	0	0	0	1	0	12	41					A	21646063	G	A	21646063	3	1	33	1	0	0	0	0	1	0	0	0	16706	1203	42	2	314	2	TTC39C	18	21646063	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		21646063	56431185	20	749											
ZNF700	90592	broad.mit.edu	37	19	12060967	12060967	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:12060967G>A	ENST00000254321.5	+	4	2271	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.G692R|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGCGGAAAAGCATT	0.383																																						uc010xme.2																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(2182-2184)Gga>Aga		Homo sapiens zinc finger protein 700 (ZNF700), mRNA.							84	78	80					19																	12060967		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060967G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.2128G>A	19.37:g.12060967G>A	ENSP00000254321:p.Gly710Arg		Somatic				ZNF700_uc002msu.3_Missense_Mutation_p.G710R|ZNF700_uc010xmf.2_Intron	p.G728R			WXS	Illumina GAIIx	Phase_I	Q9H0M5	ZN700_HUMAN			4	2373	+			710					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.2182G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	9.708	1.156403	0.21454	.	.	ENSG00000196757	ENST00000254321	T	0.21361	2.01	0.826	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43411	0.1246	M	0.86028	2.79	0.26756	N	0.970108	D	0.89917	1.0	D	0.75020	0.985	T	0.26224	-1.0109	9	0.54805	T	0.06	.	7.1518	0.25614	0.2422:0.0:0.7578:0.0	.	710	Q9H0M5	ZN700_HUMAN	R	710	ENSP00000254321:G710R	ENSP00000254321:G710R	G	+	1	0	ZNF700	11921967	0.997000	0.39634	0.000000	0.03702	0.050000	0.14768	1.988000	0.40697	-0.567000	0.06046	0.313000	0.20887	GGA		0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	58	0	0	0	1	0	3	58					A	12060967	G	A	12060967	3	1	33	1	0	0	0	0	1	0	0	0	18101	1117	39	1	2142	1	ZNF700	19	12060967	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		12060967	47068016	21	750											
CHST8	64377	broad.mit.edu	37	19	34263440	34263440	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:34263440C>T	ENST00000262622.4	+	4	1505	c.747C>T	c.(745-747)agC>agT	p.S249S	CHST8_ENST00000438847.3_Silent_p.S249S|CHST8_ENST00000434302.1_Silent_p.S249S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	249					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCGTCTCAGCACCTACACCA	0.602																																						uc002nus.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(745-747)agC>agT		Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.							129	115	119					19																	34263440		2203	4300	6503	SO:0001819	synonymous_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263440C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.747C>T	19.37:g.34263440C>T			Somatic				CHST8_uc002nut.4_Silent_p.S249S|CHST8_uc002nuu.3_Silent_p.S249S	p.S249S	NM_001127895	NP_071912	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	1252	+	Esophageal squamous(110;0.162)		249					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.747C>T	CCDS12433.1																																																																																				0.602	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	108	0	0	0	1	0	8	108					T	34263440	C	T	34263440	2	4	33	1	0	0	0	0	0	0	0	1	3410	709	25	2		2	CHST8	19	34263440	Silent	SNP	C	TCGA-BJ-A3PU-01A-11D-A21Z-08	22202473	34263440	24865543	22	751											
CGB2	114336	broad.mit.edu	37	19	49536439	49536439	+	Silent	SNP	A	A	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:49536439A>T	ENST00000359342.6	+	3	571	c.453A>T	c.(451-453)cgA>cgT	p.R151R	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2	Q6NT52	CGB2_HUMAN	chorionic gonadotropin, beta polypeptide 2	183						extracellular region (GO:0005576)				large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCCCATCCCGACTCCCGGGGC	0.637																																						uc002plw.3																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(451-453)cgA>cgT		Homo sapiens chorionic gonadotropin, beta polypeptide 2 (CGB2), mRNA.							42	59	53					19																	49536439		2198	4298	6496	SO:0001819	synonymous_variant	114336							g.chr19:49536439A>T	K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818			16722	protein-coding gene	gene with protein product		608824				6194155	Standard	NM_033378		Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.453A>T	19.37:g.49536439A>T			Somatic				SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.2_Silent_p.R139R	p.R151R	NM_033378	NP_203696	WXS	Illumina GAIIx	Phase_I				all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	676	+		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						B9ZVM5	Silent	SNP	ENST00000359342.6	37	c.453A>T	CCDS12750.2																																																																																				0.637	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316745.1	NM_033378		5	105	0	0	0	1	0	5	105					T	49536439	A	T	49536439	2	4	33	1	0	0	0	0	0	0	0	1	3298	262	10	5		5	CGB2	19	49536439	Silent	SNP	A	TCGA-BJ-A3PU-01A-11D-A21Z-08	15272999	49536439	9592544	23	752											
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Gca>Aca		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							108	101	104					19																	56466799		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466799G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr		Somatic				NLRP8_uc010etg.3_Missense_Mutation_p.A459T	p.A459T	NM_176811	NP_789781	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	1446	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	459			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1375G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		4	118	0	0	0	1	0	4	118					A	56466799	G	A	56466799	3	1	33	1	0	0	0	0	1	0	0	0	10483	1087	38	1	1385	1	NLRP8	19	56466799	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	6930360	56466799	2662184	24	753											
HLCS	3141	broad.mit.edu	37	21	38137432	38137432	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:38137432G>C	ENST00000399120.1	-	9	2791	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	HLCS_ENST00000336648.4_Missense_Mutation_p.L521V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	521	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)	AGAGTAGAAAGAGCACATCCC	0.572																																						uc010gnb.3																			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.(1561-1563)Ctt>Gtt		Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	Biotin(DB00121)						166	129	142					21																	38137432		2203	4300	6503	SO:0001583	missense	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.chr21:38137432G>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1561C>G	21.37:g.38137432G>C	ENSP00000382071:p.Leu521Val		Somatic				HLCS_uc021wjb.1_Missense_Mutation_p.L521V|HLCS_uc002yvs.3_Missense_Mutation_p.L521V	p.L521V	NM_001242784	NP_001229713	WXS	Illumina GAIIx	Phase_I	P50747	BPL1_HUMAN			8	2975	-		Myeloproliferative disorder(46;0.0422)	521					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1561C>G	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816556	0.16607	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94232	-3.38;-3.38	5.82	0.378	0.16204	Biotin/lipoate A/B protein ligase (1);	0.376195	0.27076	N	0.021044	D	0.89518	0.6738	M	0.67953	2.075	0.09310	N	1	P	0.43231	0.801	B	0.40782	0.34	T	0.82762	-0.0297	10	0.66056	D	0.02	.	3.6012	0.08026	0.1195:0.1058:0.3211:0.4537	.	521	P50747	BPL1_HUMAN	V	521	ENSP00000382071:L521V;ENSP00000338387:L521V	ENSP00000338387:L521V	L	-	1	0	HLCS	37059302	0.459000	0.25768	0.001000	0.08648	0.020000	0.10135	0.826000	0.27407	0.043000	0.15746	-0.262000	0.10625	CTT		0.572	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			4	75	0	0	0	1	0	4	75					C	38137432	G	C	38137432	3	2	33	1	0	0	0	0	1	0	0	0	7213	942	33	4	635	4	HLCS	21	38137432	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		38137432	9992463	25	754											
DSCAM	1826	broad.mit.edu	37	21	41539194	41539194	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:41539194T>C	ENST00000400454.1	-	16	3446	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	990	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				CAGGTGAACTTCCTGAGGTGG	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.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.(2968-2970)gAa>gGa		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							99	99	99					21																	41539194		1927	4128	6055	SO:0001583	missense	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.chr21:41539194T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2969A>G	21.37:g.41539194T>C	ENSP00000383303:p.Glu990Gly		Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.E990G	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			15	3421	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	990			Fibronectin type-III 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2969A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781719	0.49891	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55760	0.5;0.5	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.106075	0.64402	D	0.000004	T	0.34716	0.0907	N	0.11789	0.175	0.38613	D	0.95094	B	0.21381	0.055	B	0.24701	0.055	T	0.26950	-1.0088	10	0.30854	T	0.27	.	11.8118	0.52188	0.0:0.0:0.0:1.0	.	990	O60469	DSCAM_HUMAN	G	990;742	ENSP00000383303:E990G;ENSP00000385342:E742G	ENSP00000383303:E990G	E	-	2	0	DSCAM	40461064	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.310000	0.65780	2.099000	0.63709	0.533000	0.62120	GAA		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	100	0	0	0	1	0	3	100					C	41539194	T	C	41539194	3	2	33	1	0	0	0	0	1	0	0	0	4768	1783	62	3	3141	3	DSCAM	21	41539194	Missense_Mutation	SNP	T	TCGA-BJ-A3PU-01A-11D-A21Z-08	3401762	41539194	6590701	26	755											
MID2	11043	broad.mit.edu	37	X	107148766	107148766	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:107148766G>A	ENST00000262843.6	+	5	1531	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MID2_ENST00000443968.2_Missense_Mutation_p.R328Q|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	328					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|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 localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTCTTGAACGGTCAACAGTC	0.403																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(982-984)cGg>cAg		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							163	145	151					X																	107148766		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107148766G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.983G>A	X.37:g.107148766G>A	ENSP00000262843:p.Arg328Gln		Somatic				MID2_uc004enk.3_Missense_Mutation_p.R328Q	p.R328Q	NM_012216	NP_036348	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			4	1556	+			328					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.983G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865898	0.91511	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.58652	0.32;0.34	5.58	5.58	0.84498	B-box, C-terminal (1);	0.103566	0.64402	D	0.000002	T	0.59418	0.2192	L	0.53249	1.67	0.54753	D	0.999988	D;P	0.61697	0.99;0.501	P;B	0.48114	0.567;0.179	T	0.57171	-0.7857	10	0.26408	T	0.33	.	15.8544	0.78965	0.0:0.0:1.0:0.0	.	328;328	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	Q	328	ENSP00000262843:R328Q;ENSP00000413976:R328Q	ENSP00000262843:R328Q	R	+	2	0	MID2	107035422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.343000	0.79666	0.600000	0.82982	CGG		0.403	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		9	115	0	0	0	1	0	9	115					A	107148766	G	A	107148766	3	1	33	1	0	0	0	0	1	0	0	0	9578	1116	39	1	1001	1	MID2	23	107148766	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08		107148766	48121794	27	756											
BGN	633	broad.mit.edu	37	X	152772037	152772037	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:152772037G>A	ENST00000331595.4	+	5	802	c.616G>A	c.(616-618)Gat>Aat	p.D206N	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	206					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|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)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCTTCGATGGCCTGAA	0.612																																						uc004fhr.2																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(616-618)Gat>Aat		Homo sapiens biglycan (BGN), mRNA.							121	103	109					X																	152772037		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152772037G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.616G>A	X.37:g.152772037G>A	ENSP00000327336:p.Asp206Asn		Somatic					p.D206N	NM_001711	NP_001702	WXS	Illumina GAIIx	Phase_I	P21810	PGS1_HUMAN			4	852	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		206					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.616G>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591485	0.28357	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.82167	0.39;-1.58;0.39	4.71	3.85	0.44370	.	0.113514	0.64402	D	0.000015	T	0.70107	0.3186	N	0.25060	0.705	0.41541	D	0.988511	B	0.09022	0.002	B	0.08055	0.003	T	0.61362	-0.7078	10	0.20046	T	0.44	-18.0593	11.3012	0.49306	0.0942:0.0:0.9058:0.0	.	206	P21810	PGS1_HUMAN	N	206;223;145;145	ENSP00000327336:D206N;ENSP00000402525:D223N;ENSP00000359223:D145N	ENSP00000327336:D206N	D	+	1	0	BGN	152425231	0.997000	0.39634	0.117000	0.21633	0.487000	0.33371	2.878000	0.48515	0.911000	0.36747	0.529000	0.55759	GAT		0.612	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		12	63	0	0	0	1	0	12	63					A	152772037	G	A	152772037	3	1	33	1	0	0	0	0	1	0	0	0	1418	1058	37	1	630	1	BGN	23	152772037	Missense_Mutation	SNP	G	TCGA-BJ-A3PU-01A-11D-A21Z-08	45623271	152772037	2498523	28	757											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		32	108	0	0	0	1	0	32	108					C	533874	T	C	533874	3	2	34	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-BJ-A45D-01A-11D-A23U-08		533874	134472642	1	758											
SRP68	6730	broad.mit.edu	37	17	74039961	74039961	+	Silent	SNP	T	T	C			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr17:74039961T>C	ENST00000307877.2	-	13	1634	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	SRP68_ENST00000539137.1_Silent_p.K453K|SRP68_ENST00000355113.5_Silent_p.K390K|SRP68_ENST00000602720.1_Silent_p.K152K|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	491					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CATTTGCATATTTCAGGACTC	0.488																																						uc002jqk.1																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(1471-1473)aaA>aaG		Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.							107	97	100					17																	74039961		2203	4300	6503	SO:0001819	synonymous_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74039961T>C	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1473A>G	17.37:g.74039961T>C			Somatic				SRP68_uc010wsu.1_Silent_p.K390K|SRP68_uc002jql.1_Silent_p.K453K|SRP68_uc002jqj.1_Silent_p.K152K	p.K491K	NM_014230	NP_055045	WXS	Illumina GAIIx	Phase_I	Q9UHB9	SRP68_HUMAN			12	1508	-			491					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	c.1473A>G	CCDS11738.1																																																																																				0.488	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		12	28	0	0	0	1	0	12	28					C	74039961	T	C	74039961	2	2	34	1	0	0	0	0	0	0	0	1	15155	1490	52	3		3	SRP68	17	74039961	Silent	SNP	T	TCGA-BJ-A45D-01A-11D-A23U-08		74039961	7155249	2	759											
KIR3DL2	3812	broad.mit.edu	37	19	55378013	55378013	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr19:55378013G>A	ENST00000326321.3	+	9	1228	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	RNU6-222P_ENST00000362438.1_RNA|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A399T|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.A382T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	399					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)		GGTGACGTACGCACAGTTGGA	0.502																																						uc002qhl.4																			0		p.Y398N(1)		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.(1195-1197)Gca>Aca		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.							279	265	269					19																	55378013		2203	4300	6503	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378013G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1195G>A	19.37:g.55378013G>A	ENSP00000325525:p.Ala399Thr		Somatic				KIR3DL2_uc002qho.4_Missense_Mutation_p.A399T|KIR3DL2_uc010esh.3_Missense_Mutation_p.A382T	p.A399T			WXS	Illumina GAIIx	Phase_I	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1258	+			399					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1195G>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	G	7.616	0.675865	0.14841	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00543	6.69;6.68;6.86	1.59	-1.52	0.08637	.	.	.	.	.	T	0.01092	0.0036	L	0.55103	1.725	0.09310	N	1	B;B;D	0.89917	0.006;0.032;1.0	B;B;D	0.83275	0.008;0.011;0.996	T	0.50491	-0.8822	9	0.72032	D	0.01	.	2.2086	0.03942	0.2087:0.0:0.4949:0.2964	.	382;399;399	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	T	399;399;382	ENSP00000384528:A399T;ENSP00000325525:A399T;ENSP00000270442:A382T	ENSP00000384528:A399T	A	+	1	0	KIR3DL1;KIR3DL2	60069825	0.000000	0.05858	0.010000	0.14722	0.038000	0.13279	-0.409000	0.07160	-0.451000	0.07097	-0.515000	0.04445	GCA		0.502	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			12	246	0	0	0	1	0	12	246					A	55378013	G	A	55378013	3	1	34	1	0	0	0	0	1	0	0	0	8321	1087	38	1	1229	1	KIR3DL2	19	55378013	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		55378013	3750970	3	760											
OPRL1	4987	broad.mit.edu	37	20	62730072	62730072	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr20:62730072G>A	ENST00000349451.3	+	6	1445	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	OPRL1_ENST00000336866.2_Missense_Mutation_p.V345M|OPRL1_ENST00000355631.4_Missense_Mutation_p.V345M	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	345					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGACGTGCAGGTGTCTGACCG	0.637																																						uc002yic.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1033-1035)Gtg>Atg		Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.							74	66	69					20																	62730072		2201	4298	6499	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding	g.chr20:62730072G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1033G>A	20.37:g.62730072G>A	ENSP00000336764:p.Val345Met		Somatic				OPRL1_uc002yid.3_Missense_Mutation_p.V345M|OPRL1_uc021wgs.1_Missense_Mutation_p.V345M|OPRL1_uc002yif.4_Missense_Mutation_p.V340M	p.V345M	NM_182647	NP_872588	WXS	Illumina GAIIx	Phase_I	P41146	OPRX_HUMAN			4	1452	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		345					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.1033G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439077	0.12104	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.64618	-0.11;-0.11;-0.11	5.12	2.0	0.26442	.	0.378221	0.28688	N	0.014468	T	0.33294	0.0858	N	0.08118	0	0.27570	N	0.949922	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.09662	-1.0664	10	0.37606	T	0.19	.	2.461	0.04541	0.3761:0.0:0.4107:0.2131	.	340;345	P41146-2;P41146	.;OPRX_HUMAN	M	345	ENSP00000336843:V345M;ENSP00000347848:V345M;ENSP00000336764:V345M	ENSP00000336843:V345M	V	+	1	0	OPRL1	62200516	1.000000	0.71417	0.830000	0.32933	0.019000	0.09904	0.995000	0.29706	0.512000	0.28257	-0.273000	0.10243	GTG		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		23	55	0	0	0	1	0	23	55					A	62730072	G	A	62730072	3	1	34	1	0	0	0	0	1	0	0	0	10886	1261	44	2	1043	2	OPRL1	20	62730072	Missense_Mutation	SNP	G	TCGA-BJ-A45D-01A-11D-A23U-08		62730072	295448	4	761											
SAPS2	9701	broad.mit.edu	37	22	50876653	50876655	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-BJ-A45D-01A-11D-A23U-08	TCGA-BJ-A45D-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8e8f132-db25-43c9-a475-df9fdae46dce	0fb3fafc-65a4-4492-90eb-5f3c0238b58f	g.chr22:50876653_50876655delTGA	ENST00000216061.5	+	19	2260_2262	c.1890_1892delTGA	c.(1888-1893)tttgat>ttt	p.D633del	PPP6R2_ENST00000395744.3_In_Frame_Del_p.D606del|PPP6R2_ENST00000359139.3_In_Frame_Del_p.D606del|PPP6R2_ENST00000395741.3_In_Frame_Del_p.D607del			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	633			D -> E (in dbSNP:rs11555194).			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						TCCAGCCCTTTGATGATGATGAG	0.616																																						uc003blb.2																			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.(1888-1893)tttgat>ttt		Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50876653_50876655delTGA	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1890_1892delTGA	22.37:g.50876662_50876664delTGA	ENSP00000216061:p.Asp633del		Somatic				PPP6R2_uc003blc.3_In_Frame_Del_p.D633del|PPP6R2_uc003bky.2_In_Frame_Del_p.D606del|PPP6R2_uc003bla.2_In_Frame_Del_p.D607del|PPP6R2_uc003bkz.2_In_Frame_Del_p.D606del|PPP6R2_uc003bld.2_In_Frame_Del_p.D165del	p.D633del	NM_001242898	NP_001229827	WXS	Illumina GAIIx	Phase_I	O75170	PP6R2_HUMAN			18	2312_2314	+			633		D -> E (in dbSNP:rs11555194).			A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	In_Frame_Del	DEL	ENST00000216061.5	37	c.1890_1892delTGA																																																																																					0.616	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		55	93						55	93	---	---	---	---	-	50876655	TGA	-	50876653	7	5	34	1	0	1	0	1	0	0	0	0	13837	1809	63	0	1867	0	SAPS2	22	50876653	In_Frame_Del	DEL	TGA	TCGA-BJ-A45D-01A-11D-A23U-08		50876653	427913	5	762											
VCPIP1	80124	broad.mit.edu	37	8	67579177	67579177	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	d6d2a21b-6095-4ec9-8254-e5d2564aad50	g.chr8:67579177G>A	ENST00000310421.4	-	1	275	c.17C>T	c.(16-18)cCg>cTg	p.P6L	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	6	Pro-rich.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			aggcggcggcggcggcggcTG	0.697																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.3																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(16-18)cCg>cTg		Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.							4	6	6					8																	67579177		1743	3670	5413	SO:0001583	missense	80124				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity	g.chr8:67579177G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.17C>T	8.37:g.67579177G>A	ENSP00000309031:p.Pro6Leu		Somatic				SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	p.P6L	NM_025054	NP_079330	WXS	Illumina GAIIx	Phase_I	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		0	276	-		Lung NSC(129;0.142)|all_lung(136;0.227)	6			Pro-rich.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.17C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532628	0.45073	.	.	ENSG00000175073	ENST00000310421	D	0.87179	-2.22	6.03	6.03	0.97812	.	0.562047	0.17447	N	0.173926	T	0.80979	0.4728	N	0.22421	0.69	0.51482	D	0.999929	B	0.10296	0.003	B	0.04013	0.001	T	0.75388	-0.3335	10	0.87932	D	0	-2.5929	14.9071	0.70727	0.0:0.0:0.8213:0.1787	.	6	Q96JH7	VCIP1_HUMAN	L	6	ENSP00000309031:P6L	ENSP00000309031:P6L	P	-	2	0	VCPIP1	67741731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.524000	0.53495	2.861000	0.98227	0.655000	0.94253	CCG		0.697	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			12	17	0	0	0	1	0	12	17					A	67579177	G	A	67579177	3	1	35	1	0	0	0	0	1	0	0	0	17138	1116	39	1	3663	1	VCPIP1	8	67579177	Missense_Mutation	SNP	G	TCGA-BJ-A45E-01A-11D-A23U-08		67579177	78784845	1	763											
RBP3	5949	broad.mit.edu	37	10	48390034	48390034	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr10:48390034C>T	ENST00000224600.4	-	1	957	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	282	4 X approximate tandem repeats.		V -> M. {ECO:0000269|PubMed:19074801}.		lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GACCTGGACACGGGCACCGTG	0.697																																						uc001jez.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(844-846)Gtg>Atg		Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	Vitamin A(DB00162)						26	24	25					10																	48390034		2202	4300	6502	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390034C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.844G>A	10.37:g.48390034C>T	ENSP00000224600:p.Val282Met		Somatic					p.V282M	NM_002900	NP_002891	WXS	Illumina GAIIx	Phase_I	P10745	RET3_HUMAN			0	958	-			282			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.844G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085598	0.55861	.	.	ENSG00000107618	ENST00000224600	T	0.65732	-0.17	5.56	5.56	0.83823	Interphotoreceptor retinol-binding (2);	0.242826	0.42548	D	0.000695	T	0.81669	0.4871	M	0.83774	2.66	0.45747	D	0.99864	D	0.89917	1.0	D	0.91635	0.999	D	0.83964	0.0323	10	0.87932	D	0	-35.7589	18.5233	0.90962	0.0:1.0:0.0:0.0	.	282	P10745	RET3_HUMAN	M	282	ENSP00000224600:V282M	ENSP00000224600:V282M	V	-	1	0	RBP3	48010040	0.986000	0.35501	0.959000	0.39883	0.652000	0.38707	2.801000	0.47908	2.640000	0.89533	0.655000	0.94253	GTG		0.697	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	46	0	0	0	1	0	4	46					T	48390034	C	T	48390034	3	4	35	1	0	0	0	0	1	0	0	0	13157	536	19	1	2915	1	RBP3	10	48390034	Missense_Mutation	SNP	C	TCGA-BJ-A45E-01A-11D-A23U-08		48390034	87144713	2	764											
ITGB7	3695	broad.mit.edu	37	12	53586181	53586181	+	Silent	SNP	C	C	T			TCGA-BJ-A45E-01A-11D-A23U-08	TCGA-BJ-A45E-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b22bf924-6c87-4ccc-ac51-bcd914c39163	c181d15b-c8ae-4d11-b57f-8de22eb27f81	g.chr12:53586181C>T	ENST00000267082.5	-	14	2319	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	ITGB7_ENST00000550743.2_Silent_p.Q548Q|ITGB7_ENST00000338737.4_Silent_p.Q548Q|ITGB7_ENST00000422257.3_Silent_p.Q696Q	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	696					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAGAACAGCTGGTTGTCCA	0.567																																						uc009zmv.3																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2086-2088)caG>caA		Homo sapiens integrin, beta 7 (ITGB7), mRNA.							140	125	130					12																	53586181		2203	4300	6503	SO:0001819	synonymous_variant	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53586181C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"Integrins"	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2088G>A	12.37:g.53586181C>T			Somatic				ITGB7_uc001scc.3_Silent_p.Q696Q|ITGB7_uc010snz.2_Non-coding_Transcript	p.Q696Q	NM_000889	NP_000880	WXS	Illumina GAIIx	Phase_I	P26010	ITB7_HUMAN			12	2159	-			696					Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	c.2088G>A	CCDS8849.1																																																																																				0.567	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			13	81	0	0	0	1	0	13	81					T	53586181	C	T	53586181	2	4	35	1	0	0	0	0	0	0	0	1	7900	796	28	2		2	ITGB7	12	53586181	Silent	SNP	C	TCGA-BJ-A45E-01A-11D-A23U-08		53586181	80265714	3	765											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		31	46	0	0	0	1	0	31	46					C	115256529	T	C	115256529	3	2	36	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		115256529	133994092	1	766											
EEF1A1	1915	broad.mit.edu	37	6	74228523	74228523	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr6:74228523T>C	ENST00000316292.9	-	4	1661	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	224	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGTTCCACTGGCATTGCCA	0.517											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(670-672)Agt>Ggt		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.							105	97	99					6																	74228523		2203	4297	6500	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228523T>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.670A>G	6.37:g.74228523T>C	ENSP00000339063:p.Ser224Gly		Somatic	OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Missense_Mutation_p.S224G|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	p.S224G	NM_001402	NP_001393	WXS	Illumina GAIIx	Phase_I	P68104	EF1A1_HUMAN			3	1662	-			224					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.670A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177470	0.38413	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.46063	0.88;0.88;0.88	4.31	4.31	0.51392	Protein synthesis factor, GTP-binding (2);	0.264000	0.36374	U	0.002624	T	0.18964	0.0455	L	0.31664	0.95	0.53005	D	0.99996	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.09037	-1.0693	10	0.62326	D	0.03	.	13.8286	0.63366	0.0:0.0:0.0:1.0	.	224;224;224;224	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	G	224;224;224;224;203	ENSP00000339063:S224G;ENSP00000339053:S224G;ENSP00000330054:S224G	ENSP00000339053:S224G	S	-	1	0	EEF1A1	74285244	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.725000	0.54970	1.719000	0.51432	0.449000	0.29647	AGT		0.517	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		17	24	0	0	0	1	0	17	24					C	74228523	T	C	74228523	3	2	36	1	0	0	0	0	1	0	0	0	4923	1580	55	3	734	3	EEF1A1	6	74228523	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		74228523	96886544	2	767											
ZMIZ2	83637	broad.mit.edu	37	7	44801338	44801338	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:44801338G>A	ENST00000309315.4	+	11	1553	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	477	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACGAGGACCGGCAGATGAAC	0.612																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1429-1431)cGg>cAg		Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.							57	61	60					7																	44801338		2203	4300	6503	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44801338G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1430G>A	7.37:g.44801338G>A	ENSP00000311778:p.Arg477Gln		Somatic				ZMIZ2_uc003tlq.3_Missense_Mutation_p.R419Q|ZMIZ2_uc003tls.3_Missense_Mutation_p.R451Q|ZMIZ2_uc003tlt.3_Missense_Mutation_p.R100Q|ZMIZ2_uc010kyj.3_5'UTR	p.R477Q	NM_031449	NP_113637	WXS	Illumina GAIIx	Phase_I	Q8NF64	ZMIZ2_HUMAN			10	1553	+			477			Interaction with AR.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1430G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	37	6.209731	0.97380	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.73	4.73	0.59995	.	0.000000	0.56097	D	0.000039	T	0.63954	0.2555	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.966;0.987	T	0.64659	-0.6355	10	0.44086	T	0.13	-16.8339	17.4928	0.87709	0.0:0.0:1.0:0.0	.	451;477;419	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	Q	419;477;477;445;451;477	ENSP00000409648:R419Q;ENSP00000311778:R477Q;ENSP00000414723:R477Q;ENSP00000396601:R445Q;ENSP00000265346:R451Q	ENSP00000265346:R451Q	R	+	2	0	ZMIZ2	44767863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.131000	0.94446	2.444000	0.82710	0.655000	0.94253	CGG		0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		16	17	0	0	0	1	0	16	17					A	44801338	G	A	44801338	3	1	36	1	0	0	0	0	1	0	0	0	17694	1116	39	1	1468	1	ZMIZ2	7	44801338	Missense_Mutation	SNP	G	TCGA-BJ-A45F-01A-12D-A23U-08		44801338	114337325	3	768											
CACNA2D1	781	broad.mit.edu	37	7	81596976	81596977	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:81596976_81596977delAC	ENST00000356253.5	-	30	2689_2690	c.2434_2435delGT	c.(2434-2436)gttfs	p.V812fs	CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs|CACNA2D1_ENST00000356860.3_Frame_Shift_Del_p.V800fs			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	812					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)			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)	TTTAATTCCAACAACTGAAAAA	0.262																																						uc003uhr.1																			0				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.(2398-2400)gttfs		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001589	frameshift_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81596976_81596977delAC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2434_2435delGT	7.37:g.81596976_81596977delAC	ENSP00000348589:p.Val812fs		Somatic				CACNA2D1_uc011kgy.1_Frame_Shift_Del_p.V12fs	p.V800fs	NM_000722	NP_000713	WXS	Illumina GAIIx	Phase_I	P54289	CA2D1_HUMAN			29	2654_2655	-			812					Q17R45|Q9UD80|Q9UD81|Q9UD82	Frame_Shift_Del	DEL	ENST00000356253.5	37	c.2398_2399delGT																																																																																					0.262	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	81596977	AC	-	81596976	7	5	36	1	0	1	0	1	0	0	0	0	2548	43	2	0	916	0	CACNA2D1	7	81596976	Frame_Shift_Del	DEL	AC	TCGA-BJ-A45F-01A-12D-A23U-08	36795638	81596976	77541687	4	769											
TG	7038	broad.mit.edu	37	8	133919035	133919035	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr8:133919035A>C	ENST00000220616.4	+	17	3777	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	TG_ENST00000377869.1_Missense_Mutation_p.Q1246P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1246					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)		CAGCAGTGCCAATTGCTGTGC	0.632																																						uc003ytw.3																			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.(3736-3738)cAa>cCa		Homo sapiens thyroglobulin (TG), mRNA.							65	56	59					8																	133919035		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133919035A>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3737A>C	8.37:g.133919035A>C	ENSP00000220616:p.Gln1246Pro		Somatic				TG_uc010mdw.3_Missense_Mutation_p.Q5P	p.Q1246P	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	16	3778	+	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)	1246					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3737A>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.899|9.899	1.206274|1.206274	0.22205|0.22205	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518505|ENST00000377869;ENST00000543313;ENST00000220616	.|T;T	.|0.65549	.|-0.16;-0.15	5.48|5.48	-4.43|-4.43	0.03568|0.03568	.|.	.|0.542430	.|0.17260	.|N	.|0.180827	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.59436|0.59436	1.845|1.845	0.24681|0.24681	N|N	0.99337|0.99337	.|P	.|0.37955	.|0.612	.|B	.|0.34722	.|0.188	T|T	0.42464|0.42464	-0.9450|-0.9450	5|10	.|0.87932	.|D	.|0	.|.	4.713|4.713	0.12882|0.12882	0.3416:0.0:0.3927:0.2657|0.3416:0.0:0.3927:0.2657	.|.	.|1246	.|P01266	.|THYG_HUMAN	H|P	190|1246;52;1246	.|ENSP00000367100:Q1246P;ENSP00000220616:Q1246P	.|ENSP00000220616:Q1246P	N|Q	+|+	1|2	0|0	TG|TG	133988217|133988217	0.054000|0.054000	0.20591|0.20591	0.872000|0.872000	0.34217|0.34217	0.033000|0.033000	0.12548|0.12548	-0.627000|-0.627000	0.05521|0.05521	-0.851000|-0.851000	0.04147|0.04147	-1.054000|-1.054000	0.02325|0.02325	AAT|CAA		0.632	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	28	0	0	0	1	0	10	28					C	133919035	A	C	133919035	3	2	36	1	0	0	0	0	1	0	0	0	15810	130	5	5	3803	5	TG	8	133919035	Missense_Mutation	SNP	A	TCGA-BJ-A45F-01A-12D-A23U-08		133919035	12444987	5	770											
GRAMD2	196996	broad.mit.edu	37	15	72454662	72454662	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr15:72454662T>C	ENST00000309731.7	-	11	1026	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	338						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TAACTGCTGCTCTAGCCGAGA	0.488																																						uc002atq.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1012-1014)gAg>gGg		Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.							87	80	83					15																	72454662		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72454662T>C	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.1013A>G	15.37:g.72454662T>C	ENSP00000311657:p.Glu338Gly		Somatic				GRAMD2_uc010bis.2_Missense_Mutation_p.E338G|GRAMD2_uc010ukh.2_Missense_Mutation_p.E132G	p.E338G	NM_001012642	NP_001012660	WXS	Illumina GAIIx	Phase_I	Q8IUY3	GRAM2_HUMAN			10	1037	-			338					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.1013A>G	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866427	0.72065	.	.	ENSG00000175318	ENST00000309731	T	0.69040	-0.37	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	L	0.61218	1.895	0.51482	D	0.999923	D	0.89917	1.0	D	0.87578	0.998	T	0.80913	-0.1170	10	0.87932	D	0	.	12.5847	0.56410	0.0:0.0:0.0:1.0	.	338	Q8IUY3	GRAM2_HUMAN	G	338	ENSP00000311657:E338G	ENSP00000311657:E338G	E	-	2	0	GRAMD2	70241716	1.000000	0.71417	0.956000	0.39512	0.435000	0.31806	6.284000	0.72652	1.983000	0.57843	0.460000	0.39030	GAG		0.488	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		11	33	0	0	0	1	0	11	33					C	72454662	T	C	72454662	3	2	36	1	0	0	0	0	1	0	0	0	6750	1551	54	3	59	3	GRAMD2	15	72454662	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		72454662	30076730	6	771											
CYTSB	92521	broad.mit.edu	37	17	20013740	20013740	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr17:20013740C>A	ENST00000261503.5	+	3	199	c.148C>A	c.(148-150)Ctc>Atc	p.L50I	SPECC1_ENST00000395527.4_Splice_Site_p.L50I|SPECC1_ENST00000395529.3_Splice_Site_p.L50I|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	50					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)		ACTCTCTCAGCTCAAGAGGGC	0.572																																						uc002gwq.3																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.e3-1		Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.							90	92	92					17																	20013740		2203	4300	6503	SO:0001630	splice_region_variant	92521					nucleus		g.chr17:20013740C>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.148-1C>A	17.37:g.20013740C>A			Somatic				SPECC1_uc010cqx.3_Splice_Site_p.L50_splice|SPECC1_uc002gwr.3_Splice_Site_p.L50_splice|SPECC1_uc002gws.3_Splice_Site_p.L50_splice	p.L50_splice	NM_001243439	NP_001230368	WXS	Illumina GAIIx	Phase_I	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	3	258	+			50					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Splice_Site	SNP	ENST00000261503.5	37	c.148_splice	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284741	0.59867	.	.	ENSG00000128487	ENST00000395530;ENST00000413167;ENST00000261503;ENST00000395529	T;T	0.65916	-0.18;2.8	5.29	5.29	0.74685	.	0.092570	0.44688	D	0.000425	T	0.72732	0.3497	L	0.43152	1.355	0.80722	D	1	D;P	0.71674	0.998;0.825	D;B	0.83275	0.996;0.299	T	0.70004	-0.4991	9	.	.	.	-12.3568	16.802	0.85617	0.0:1.0:0.0:0.0	.	50;50	Q5M775-2;Q5M775	.;CYTSB_HUMAN	I	50	ENSP00000261503:L50I;ENSP00000378900:L50I	.	L	+	1	0	SPECC1	19954332	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.763000	0.62257	2.647000	0.89833	0.655000	0.94253	CTC		0.572	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	Missense_Mutation	17	51	0	0	0	1	0	17	51					A	20013740	C	A	20013740	5	1	36	1	0	0	0	0	0	0	1	0	4210	811	28	4	154	4	CYTSB	17	20013740	Splice_Site	SNP	C	TCGA-BJ-A45F-01A-12D-A23U-08		20013740	61181470	7	772											
FUT3	2525	broad.mit.edu	37	19	5844400	5844400	+	Missense_Mutation	SNP	T	T	C	rs417341	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:5844400T>C	ENST00000303225.6	-	3	1085	c.451A>G	c.(451-453)Aga>Gga	p.R151G	FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000458379.2_Missense_Mutation_p.R151G|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.R151G	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	151					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGAAGTATCTGTCCAGGGCT	0.642													T|||	11	0.00219649	0.0061	0.0014	5008	,	,		14700	0.002		0	False		,,,				2504	0				Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(451-453)Aga>Gga		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.		T	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	35,4371	40.0+/-72.8	0,35,2168	68	62	64		451,451,451,451	-0.1	0.1	19	dbSNP_80	64	0,8600		0,0,4300	yes	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	125,125,125,125	0,35,6468	CC,CT,TT		0.0,0.7944,0.2691	benign,benign,benign,benign	151/362,151/362,151/362,151/362	5844400	35,12971	2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844400T>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.451A>G	19.37:g.5844400T>C	ENSP00000305603:p.Arg151Gly		Somatic				FUT3_uc002mdm.2_Missense_Mutation_p.R151G|FUT3_uc002mdj.2_Missense_Mutation_p.R151G|FUT3_uc002mdl.2_Missense_Mutation_p.R151G|FUT3_uc021unn.1_Missense_Mutation_p.R151G	p.R151G	NM_001097641	NP_001091110	WXS	Illumina GAIIx	Phase_I	P21217	FUT3_HUMAN			1	548	-			151					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.451A>G	CCDS12153.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	T	0.001	-3.133225	0.00030	0.007944	0.0	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.25579	1.79;1.79	2.24	-0.0815	0.13702	.	0.613784	0.14038	N	0.345642	T	0.02047	0.0064	N	0.00054	-2.38	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	0.42498	-0.9448	10	0.06625	T	0.88	.	4.5324	0.12011	0.0:0.4765:0.0:0.5235	rs417341;rs2561801;rs417341	151;151;151;151	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	G	151	ENSP00000305603:R151G;ENSP00000416443:R151G	ENSP00000305603:R151G	R	-	1	2	FUT3	5795400	0.000000	0.05858	0.072000	0.20136	0.088000	0.18126	-0.920000	0.04013	0.208000	0.20626	-1.216000	0.01612	AGA		0.642	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		14	56	0	0	0	1	0	14	56					C	5844400	T	C	5844400	3	2	36	1	0	0	0	0	1	0	0	0	6105	1588	55	3	638	3	FUT3	19	5844400	Missense_Mutation	SNP	T	TCGA-BJ-A45F-01A-12D-A23U-08		5844400	53284583	8	773											
CCDC105	126402	broad.mit.edu	37	19	15132292	15132292	+	Silent	SNP	C	C	T			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:15132292C>T	ENST00000292574.3	+	4	1084	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	334						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGTGTGTGCCTCGCTGGCGC	0.622																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1000-1002)gcC>gcT		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							98	67	78					19																	15132292		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132292C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1002C>T	19.37:g.15132292C>T			Somatic					p.A334A	NM_173482	NP_775753	WXS	Illumina GAIIx	Phase_I	Q8IYK2	CC105_HUMAN			3	1101	+			334					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1002C>T	CCDS12322.1																																																																																				0.622	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		3	30	0	0	0	1	0	3	30					T	15132292	C	T	15132292	2	4	36	1	0	0	0	0	0	0	0	1	2740	668	24	2		2	CCDC105	19	15132292	Silent	SNP	C	TCGA-BJ-A45F-01A-12D-A23U-08	9287892	15132292	43996691	9	774											
CD93	22918	broad.mit.edu	37	20	23065236	23065236	+	Missense_Mutation	SNP	G	G	C	rs372540092		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr20:23065236G>C	ENST00000246006.4	-	1	1741	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	532					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)					AGCATCTTGAGTGGGGCAGAT	0.662																																						uc002wsv.3																			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.(1594-1596)Ctc>Gtc		Homo sapiens CD93 molecule (CD93), mRNA.							45	52	50					20																	23065236		2203	4300	6503	SO:0001583	missense	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.chr20:23065236G>C	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1594C>G	20.37:g.23065236G>C	ENSP00000246006:p.Leu532Val		Somatic					p.L532V	NM_012072	NP_036204	WXS	Illumina GAIIx	Phase_I	Q9NPY3	C1QR1_HUMAN			0	1742	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		532					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1594C>G	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	3.681	-0.065621	0.07273	.	.	ENSG00000125810	ENST00000246006	T	0.80214	-1.35	5.59	1.36	0.22044	.	1.037860	0.07629	N	0.928371	T	0.66886	0.2835	L	0.34521	1.04	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.48186	-0.9057	10	0.13853	T	0.58	-1.8619	4.7572	0.13090	0.2105:0.0:0.5355:0.2541	.	532	Q9NPY3	C1QR1_HUMAN	V	532	ENSP00000246006:L532V	ENSP00000246006:L532V	L	-	1	0	CD93	23013236	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	0.299000	0.22661	-0.137000	0.14449	CTC		0.662	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		21	59	0	0	0	1	0	21	59					C	23065236	G	C	23065236	3	2	36	1	0	0	0	0	1	0	0	0	3047	1029	36	4	372	4	CD93	20	23065236	Missense_Mutation	SNP	G	TCGA-BJ-A45F-01A-12D-A23U-08		23065236	39960284	10	775											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		52	62	0	0	0	1	0	52	62					C	115256529	T	C	115256529	3	2	37	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		115256529	133994092	1	776											
NPR1	4881	broad.mit.edu	37	1	153660685	153660685	+	Missense_Mutation	SNP	G	G	A	rs148747309		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:153660685G>A	ENST00000368680.3	+	15	2877	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	802	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)	CTGACGTTGCGCAAATTTAAC	0.582																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.4																			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.(2404-2406)cGc>cAc		Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)		HIS/ARG	0,4406		0,0,2203	107	96	100		2405	3.4	1.0	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPR1	NM_000906.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	802/1062	153660685	1,13005	2203	4300	6503	SO:0001583	missense	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.chr1:153660685G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2405G>A	1.37:g.153660685G>A	ENSP00000357669:p.Arg802His		Somatic				NPR1_uc010pdz.2_Missense_Mutation_p.R548H|NPR1_uc010pea.2_Missense_Mutation_p.R280H	p.R802H	NM_000906	NP_000897	WXS	Illumina GAIIx	Phase_I	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		14	2826	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		802			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2405G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	g	19.14	3.769733	0.69992	0.0	1.16E-4	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62498	0.02	4.45	3.44	0.39384	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.63141	0.2486	M	0.82716	2.605	0.80722	D	1	P;D	0.56521	0.801;0.976	B;P	0.50082	0.199;0.63	T	0.70539	-0.4844	10	0.72032	D	0.01	.	11.267	0.49116	0.0:0.0:0.8168:0.1832	.	281;802	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	802;281	ENSP00000357669:R802H	ENSP00000357669:R802H	R	+	2	0	NPR1	151927309	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.788000	0.47806	2.438000	0.82558	0.457000	0.33378	CGC		0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		5	36	0	0	0	1	0	5	36					A	153660685	G	A	153660685	3	1	37	1	0	0	0	0	1	0	0	0	10594	1087	38	1	2463	1	NPR1	1	153660685	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	38404156	153660685	95589936	2	777											
IGFBP7	3490	broad.mit.edu	37	4	57898634	57898634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:57898634T>C	ENST00000295666.4	-	4	820	c.787A>G	c.(787-789)Att>Gtt	p.I263V	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.I263V	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	263	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACCACTGTAATTTTTGCTGAT	0.368																																						uc003hcn.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(787-789)Att>Gtt		Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						141	131	134					4																	57898634		2203	4300	6503	SO:0001583	missense	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57898634T>C	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.787A>G	4.37:g.57898634T>C	ENSP00000295666:p.Ile263Val		Somatic				IGFBP7_uc011cag.2_Missense_Mutation_p.I263V	p.I263V	NM_001553	NP_001544	WXS	Illumina GAIIx	Phase_I	Q16270	IBP7_HUMAN			3	821	-	Glioma(25;0.08)|all_neural(26;0.181)		263			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	c.787A>G	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947232	0.53186	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.38240	1.15;1.15	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	N	0.03115	-0.41	0.47009	D	0.999289	D;D	0.63880	0.958;0.993	D;D	0.76071	0.97;0.987	T	0.40194	-0.9576	10	0.18710	T	0.47	-5.5568	14.5594	0.68126	0.0:0.0:0.0:1.0	.	263;263	B4E1N2;Q16270	.;IBP7_HUMAN	V	263	ENSP00000295666:I263V;ENSP00000444146:I263V	ENSP00000295666:I263V	I	-	1	0	IGFBP7	57593391	1.000000	0.71417	0.926000	0.36857	0.916000	0.54674	6.820000	0.75267	2.172000	0.68678	0.533000	0.62120	ATT		0.368	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			6	35	0	0	0	1	0	6	35					C	57898634	T	C	57898634	3	2	37	1	0	0	0	0	1	0	0	0	7584	1493	52	3	69	3	IGFBP7	4	57898634	Missense_Mutation	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		57898634	133255642	3	778											
MMAA	166785	broad.mit.edu	37	4	146560393	146560393	+	Silent	SNP	C	C	T	rs146372922	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:146560393C>T	ENST00000281317.5	+	2	1312	c.102C>T	c.(100-102)ctC>ctT	p.L34L	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	34					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|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)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACTCATCTCGGATCAGGAA	0.443													c|||	9	0.00179712	0.0068	0	5008	,	,		19886	0		0	False		,,,				2504	0					uc003ikh.4																			0		p.L34V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(100-102)ctC>ctT		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C		16,4390	24.3+/-50.5	0,16,2187	149	143	145		102	-0.3	0.0	4	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MMAA	NM_172250.2		0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384		34/419	146560393	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560393C>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.102C>T	4.37:g.146560393C>T			Somatic				MMAA_uc010iow.3_Non-coding_Transcript	p.L34L	NM_172250	NP_758454	WXS	Illumina GAIIx	Phase_I	Q8IVH4	MMAA_HUMAN			1	187	+	all_hematologic(180;0.151)		34					B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	c.102C>T	CCDS3766.1																																																																																				0.443	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			46	78	0	0	0	1	0	46	78					T	146560393	C	T	146560393	2	4	37	1	0	0	0	0	0	0	0	1	9639	871	31	1		1	MMAA	4	146560393	Silent	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08	88661759	146560393	44593883	4	779											
FAM111A	63901	broad.mit.edu	37	11	58920619	58920619	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr11:58920619G>A	ENST00000528737.1	+	5	4296	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	FAM111A_ENST00000361723.3_Missense_Mutation_p.R493Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.R493Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	493	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGGGTCAGCGAGCAAAGAAA	0.403																																						uc010rkp.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1477-1479)cGa>cAa		Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.							96	98	97					11																	58920619		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920619G>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1478G>A	11.37:g.58920619G>A	ENSP00000434435:p.Arg493Gln		Somatic				FAM111A_uc010rkq.2_Missense_Mutation_p.R493Q|FAM111A_uc010rkr.2_Missense_Mutation_p.R493Q|FAM111A_uc001nno.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnp.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnq.3_Missense_Mutation_p.R493Q	p.R493Q	NM_001142521	NP_942144	WXS	Illumina GAIIx	Phase_I	Q96PZ2	F111A_HUMAN			4	1705	+		all_epithelial(135;0.139)	493					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1478G>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211715	0.58452	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.67	2.66	0.31614	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.413349	0.21534	N	0.073015	T	0.58278	0.2111	M	0.83953	2.67	0.09310	N	1	D	0.69078	0.997	P	0.54629	0.757	T	0.49808	-0.8900	10	0.42905	T	0.14	-0.2031	7.2558	0.26175	0.0929:0.0:0.739:0.1681	.	493	Q96PZ2	F111A_HUMAN	Q	493	ENSP00000434435:R493Q;ENSP00000406683:R493Q;ENSP00000355264:R493Q;ENSP00000433154:R493Q;ENSP00000431631:R493Q	ENSP00000355264:R493Q	R	+	2	0	FAM111A	58677195	0.002000	0.14202	0.091000	0.20842	0.014000	0.08584	0.942000	0.29017	1.340000	0.45581	-0.136000	0.14681	CGA		0.403	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		7	89	0	0	0	1	0	7	89					A	58920619	G	A	58920619	3	1	37	1	0	0	0	0	1	0	0	0	5399	1058	37	1	1484	1	FAM111A	11	58920619	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08		58920619	76085897	5	780											
RNASE1	6035	broad.mit.edu	37	14	21270003	21270003	+	Silent	SNP	C	C	T			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr14:21270003C>T	ENST00000397967.4	-	2	731	c.225G>A	c.(223-225)gtG>gtA	p.V75V	RNASE1_ENST00000340900.3_Silent_p.V75V|RNASE1_ENST00000397970.4_Silent_p.V75V|RNASE1_ENST00000555698.1_Silent_p.V35V|RNASE1_ENST00000412779.2_Silent_p.V75V	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	75					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	GGGGCTCGTGCACAAAGGTGT	0.542																																						uc001vyf.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(223-225)gtG>gtA		Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 3, mRNA.							143	127	132					14																	21270003		2203	4300	6503	SO:0001819	synonymous_variant	6035					extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding	g.chr14:21270003C>T	BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"Ribonucleases, RNase A"	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.225G>A	14.37:g.21270003C>T			Somatic				RNASE1_uc001vyg.3_Silent_p.V75V|RNASE1_uc001vyh.3_Silent_p.V75V|RNASE1_uc001vyi.3_Silent_p.V75V|RNASE1_uc021rop.1_Silent_p.V75V	p.V75V	NM_198232	NP_937878	WXS	Illumina GAIIx	Phase_I	P07998	RNAS1_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	1	401	-	all_cancers(95;0.00671)	all_lung(585;0.235)	75					B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Silent	SNP	ENST00000397967.4	37	c.225G>A	CCDS9559.1																																																																																				0.542	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			5	73	0	0	0	1	0	5	73					T	21270003	C	T	21270003	2	4	37	1	0	0	0	0	0	0	0	1	13399	697	25	2		2	RNASE1	14	21270003	Silent	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08		21270003	86079537	6	781											
ACAN	176	broad.mit.edu	37	15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	rs143697605		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr15:89391161C>T	ENST00000561243.1	+	8	1624	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_ENST00000558207.1_Missense_Mutation_p.R542W|ACAN_ENST00000439576.2_Missense_Mutation_p.R542W|ACAN_ENST00000352105.7_Missense_Mutation_p.R542W|ACAN_ENST00000559004.1_Missense_Mutation_p.R542W			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R542W(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		11533	0		0	False		,,,				2504	0					uc010upo.1																			1	Substitution - Missense(1)	p.R542W(2)|p.P541P(1)	large_intestine(1)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1624-1626)Cgg>Tgg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							72	75	74					15																	89391161		1949	4147	6096	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391161C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1624C>T	15.37:g.89391161C>T	ENSP00000453342:p.Arg542Trp		Somatic				ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	p.R542W	NM_013227	NP_037359	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		8	1998	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		542					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1624C>T	CCDS53970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.01	2.707015	0.48412	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13901	2.55;2.55	5.35	3.4	0.38934	.	.	.	.	.	T	0.49541	0.1563	H	0.97103	3.94	0.40088	D	0.976221	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63817	-0.6551	9	0.87932	D	0	-18.098	11.6973	0.51551	0.3215:0.6785:0.0:0.0	.	542;542;542	E7ENV9;E7EX88;Q6PID9	.;.;.	W	542	ENSP00000387356:R542W;ENSP00000341615:R542W	ENSP00000268134:R542W	R	+	1	2	ACAN	87192165	0.202000	0.23423	0.676000	0.29932	0.976000	0.68499	0.725000	0.25970	0.581000	0.29539	0.563000	0.77884	CGG		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	56	0	0	0	1	0	4	56					T	89391161	C	T	89391161	3	4	37	1	0	0	0	0	1	0	0	0	117	643	23	1	1654	1	ACAN	15	89391161	Missense_Mutation	SNP	C	TCGA-BJ-A45G-01A-11D-A23U-08		89391161	13140231	7	782											
MED13	9969	broad.mit.edu	37	17	60142516	60142516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr17:60142516delA	ENST00000397786.2	-	1	127	c.51delT	c.(49-51)tgtfs	p.C17fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	17					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGGTTACAGTGACAAT	0.716																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(49-51)tgtfs		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							7	10	9					17																	60142516		1933	4134	6067	SO:0001589	frameshift_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60142516delA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.51delT	17.37:g.60142516delA	ENSP00000380888:p.Cys17fs		Somatic					p.C17fs	NM_005121	NP_005112	WXS	Illumina GAIIx	Phase_I	Q9UHV7	MED13_HUMAN			0	128	-			17					B2RU05|O60334	Frame_Shift_Del	DEL	ENST00000397786.2	37	c.51delT	CCDS42366.1																																																																																				0.716	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		2	4						2	4	---	---	---	---	-	60142516	A	-	60142516	7	5	37	1	0	1	0	1	0	0	0	0	9430	389	14	0	6593	0	MED13	17	60142516	Frame_Shift_Del	DEL	A	TCGA-BJ-A45G-01A-11D-A23U-08		60142516	21052694	8	783											
TRMT1	55621	broad.mit.edu	37	19	13220604	13220604	+	Silent	SNP	T	T	C			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:13220604T>C	ENST00000592062.1	-	11	1725	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	TRMT1_ENST00000437766.1_Silent_p.E385E|TRMT1_ENST00000221504.8_Silent_p.E356E|TRMT1_ENST00000357720.4_Silent_p.E385E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	385	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCCACAGTGTTCACACTCGG	0.627																																						uc002mwj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1153-1155)gaA>gaG		Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.							76	78	77					19																	13220604		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220604T>C	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1155A>G	19.37:g.13220604T>C			Somatic				TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.E356E|TRMT1_uc002mwl.3_Silent_p.E385E|TRMT1_uc010xmz.1_Silent_p.E171E	p.E385E	NM_017722	NP_060192	WXS	Illumina GAIIx	Phase_I	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	8	1405	-			385					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1155A>G	CCDS12293.1																																																																																				0.627	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	26	0	0	0	1	0	10	26					C	13220604	T	C	13220604	2	2	37	1	0	0	0	0	0	0	0	1	16558	1722	60	3		3	TRMT1	19	13220604	Silent	SNP	T	TCGA-BJ-A45G-01A-11D-A23U-08		13220604	45908379	9	784											
B3GNT3	10331	broad.mit.edu	37	19	17922809	17922809	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:17922809G>T	ENST00000318683.6	+	3	1144	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D333Y	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	333					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GTCCTCCTTTGACCCCTGCTT	0.622																																						uc002nhl.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(997-999)Gac>Tac		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.							130	119	123					19																	17922809		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922809G>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.997G>T	19.37:g.17922809G>T	ENSP00000321874:p.Asp333Tyr		Somatic				B3GNT3_uc010ebd.1_Missense_Mutation_p.D333Y|B3GNT3_uc010ebe.1_Missense_Mutation_p.D333Y	p.D333Y	NM_014256	NP_055071	WXS	Illumina GAIIx	Phase_I	Q9Y2A9	B3GN3_HUMAN			2	1144	+			333					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.997G>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577846	0.65878	.	.	ENSG00000179913	ENST00000318683	T	0.57107	0.42	5.23	5.23	0.72850	.	0.055773	0.64402	D	0.000002	T	0.78317	0.4264	M	0.91818	3.245	0.58432	D	0.99999	D	0.89917	1.0	D	0.78314	0.991	D	0.83673	0.0167	10	0.87932	D	0	.	16.2661	0.82579	0.0:0.0:1.0:0.0	.	333	Q9Y2A9	B3GN3_HUMAN	Y	333	ENSP00000321874:D333Y	ENSP00000321874:D333Y	D	+	1	0	B3GNT3	17783809	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	4.537000	0.60643	2.452000	0.82932	0.561000	0.74099	GAC		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		13	114	0	0	0	1	0	13	114					T	17922809	G	T	17922809	3	4	37	1	0	0	0	0	1	0	0	0	1258	1290	45	4	1003	4	B3GNT3	19	17922809	Missense_Mutation	SNP	G	TCGA-BJ-A45G-01A-11D-A23U-08	4702205	17922809	41206174	10	785											
LRCH2	57631	broad.mit.edu	37	X	114414309	114414309	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chrX:114414309delA	ENST00000317135.8	-	4	657	c.627delT	c.(625-627)attfs	p.I209fs	LRCH2_ENST00000538422.1_Frame_Shift_Del_p.I209fs	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	209										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CATTGCAGCTAATATCCTAAG	0.279																																						uc010nqe.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(625-627)attfs		Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.							43	36	38					X																	114414309		1790	4047	5837	SO:0001589	frameshift_variant	57631							g.chrX:114414309delA	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.627delT	X.37:g.114414309delA	ENSP00000325091:p.Ile209fs		Somatic				LRCH2_uc004epz.3_Frame_Shift_Del_p.I209fs	p.I209fs	NM_020871	NP_065922	WXS	Illumina GAIIx	Phase_I	Q5VUJ6	LRCH2_HUMAN			3	658	-			209					F5H2T1|Q08AD5|Q9HA88|Q9P233	Frame_Shift_Del	DEL	ENST00000317135.8	37	c.627delT	CCDS48155.1																																																																																				0.279	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		2	4						2	4	---	---	---	---	-	114414309	A	-	114414309	7	5	37	1	0	1	0	1	0	0	0	0	8933	358	13	0	1742	0	LRCH2	23	114414309	Frame_Shift_Del	DEL	A	TCGA-BJ-A45G-01A-11D-A23U-08		114414309	40856251	11	786											
LRRC8B	23507	broad.mit.edu	37	1	90049454	90049454	+	Silent	SNP	G	G	A			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr1:90049454G>A	ENST00000330947.2	+	5	1605	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	LRRC8B_ENST00000439853.1_Silent_p.V415V|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.V415V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	415					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GTAAGCTTGTGAAAAATGCCC	0.403																																						uc001dni.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(1243-1245)gtG>gtA		Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.							74	77	76					1																	90049454		2203	4300	6503	SO:0001819	synonymous_variant	23507					integral to membrane		g.chr1:90049454G>A	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1245G>A	1.37:g.90049454G>A			Somatic				LRRC8B_uc001dnh.3_Silent_p.V415V|LRRC8B_uc001dnj.3_Silent_p.V415V	p.V415V	NM_001134476	NP_056165	WXS	Illumina GAIIx	Phase_I	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	1752	+		all_lung(203;0.17)	415					D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	c.1245G>A	CCDS724.1																																																																																				0.403	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		4	54	0	0	0	1	0	4	54					A	90049454	G	A	90049454	2	1	38	1	0	0	0	0	0	0	0	1	9022	1277	45	2		2	LRRC8B	1	90049454	Silent	SNP	G	TCGA-BJ-A45I-01A-11D-A23U-08		90049454	159201167	1	787											
ANK2	287	broad.mit.edu	37	4	114163300	114163300	+	Silent	SNP	A	A	C			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr4:114163300A>C	ENST00000357077.4	+	9	879	c.826A>C	c.(826-828)Aga>Cga	p.R276R	ANK2_ENST00000506722.1_Silent_p.R255R|ANK2_ENST00000264366.6_Silent_p.R276R|ANK2_ENST00000394537.3_Silent_p.R276R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	276					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)		GGCTTCCAAAAGAGGAAATAC	0.453																																						uc003ibe.4																			0		p.R276T(1)		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.(826-828)Aga>Cga		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							172	157	162					4																	114163300		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114163300A>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.826A>C	4.37:g.114163300A>C			Somatic				ANK2_uc003ibd.4_Silent_p.R255R|ANK2_uc003ibf.4_Silent_p.R276R|ANK2_uc003ibc.2_Silent_p.R252R|ANK2_uc011cgb.1_Silent_p.R291R	p.R276R	NM_001148	NP_001139	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	8	926	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	276					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.826A>C	CCDS3702.1																																																																																				0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		14	31	0	0	0	1	0	14	31					C	114163300	A	C	114163300	2	2	38	1	0	0	0	0	0	0	0	1	621	64	3	5		5	ANK2	4	114163300	Silent	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08		114163300	76990976	2	788											
PRMT10	90826	broad.mit.edu	37	4	148579090	148579090	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr4:148579090T>A	ENST00000322396.6	-	8	1425	c.1183A>T	c.(1183-1185)Att>Ttt	p.I395F	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.I282F	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		395	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GGAATACCAATCTTATCAGGC	0.333																																						uc003ilc.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1183-1185)Att>Ttt		Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.							67	59	62					4																	148579090		2203	4299	6502	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148579090T>A																												ENST00000322396.6:c.1183A>T	4.37:g.148579090T>A	ENSP00000314396:p.Ile395Phe		Somatic				PRMT10_uc003ilb.3_Missense_Mutation_p.I39F|PRMT10_uc003ild.3_Missense_Mutation_p.I282F	p.I395F	NM_138364	NP_612373	WXS	Illumina GAIIx	Phase_I	Q6P2P2	ANM10_HUMAN			7	1325	-			395					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1183A>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	T	8.268	0.812721	0.16537	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.47177	0.85;0.85	5.51	-0.119	0.13543	.	0.434063	0.25469	N	0.030460	T	0.28433	0.0703	L	0.34521	1.04	0.09310	N	0.999998	B	0.15719	0.014	B	0.18263	0.021	T	0.32719	-0.9896	10	0.02654	T	1	-34.1938	10.3995	0.44220	0.1038:0.0:0.4782:0.418	.	395	Q6P2P2	ANM10_HUMAN	F	395;282	ENSP00000314396:I395F;ENSP00000439508:I282F	ENSP00000314396:I395F	I	-	1	0	PRMT10	148798540	0.037000	0.19845	0.000000	0.03702	0.336000	0.28762	0.078000	0.14761	-0.213000	0.10094	-1.508000	0.00951	ATT		0.333	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			3	19	0	0	0	1	0	3	19					A	148579090	T	A	148579090	3	1	38	1	0	0	0	0	1	0	0	0	12536	1435	50	5	1374	5	PRMT10	4	148579090	Missense_Mutation	SNP	T	TCGA-BJ-A45I-01A-11D-A23U-08	34415790	148579090	42575186	3	789											
MAML1	9794	broad.mit.edu	37	5	179192842	179192842	+	Silent	SNP	G	G	A			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr5:179192842G>A	ENST00000292599.3	+	2	1094	c.831G>A	c.(829-831)gaG>gaA	p.E277E	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTCGAGGAGAAGAAGGACC	0.507																																						uc003mkm.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(829-831)gaG>gaA		Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.							75	79	78					5																	179192842		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192842G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.831G>A	5.37:g.179192842G>A			Somatic				MAML1_uc003mkn.1_Silent_p.E277E	p.E277E	NM_014757	NP_055572	WXS	Illumina GAIIx	Phase_I	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1094	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	277						Silent	SNP	ENST00000292599.3	37	c.831G>A	CCDS34315.1																																																																																				0.507	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	60	0	0	0	1	0	5	60					A	179192842	G	A	179192842	2	1	38	1	0	0	0	0	0	0	0	1	9205	933	33	2		2	MAML1	5	179192842	Silent	SNP	G	TCGA-BJ-A45I-01A-11D-A23U-08		179192842	1722418	4	790											
LRGUK	136332	broad.mit.edu	37	7	133868563	133868563	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr7:133868563C>T	ENST00000285928.2	+	11	1361	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	431	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGAGAGCTTGCCCATCGCCTC	0.468																																						uc003vrm.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1291-1293)gCc>gTc		Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.							216	187	197					7																	133868563		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133868563C>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1292C>T	7.37:g.133868563C>T	ENSP00000285928:p.Ala431Val		Somatic					p.A431V	NM_144648	NP_653249	WXS	Illumina GAIIx	Phase_I	Q96M69	LRGUK_HUMAN			10	1308	+			431			Guanylate kinase-like.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1292C>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021383	0.75275	.	.	ENSG00000155530	ENST00000285928	T	0.41400	1.0	5.83	5.83	0.93111	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.065972	0.64402	D	0.000013	T	0.53834	0.1821	L	0.41492	1.28	0.41143	D	0.985976	D	0.76494	0.999	D	0.70716	0.97	T	0.43048	-0.9415	10	0.30078	T	0.28	-18.1504	15.1086	0.72338	0.0:0.8578:0.1421:0.0	.	431	Q96M69	LRGUK_HUMAN	V	431	ENSP00000285928:A431V	ENSP00000285928:A431V	A	+	2	0	LRGUK	133519103	0.986000	0.35501	0.997000	0.53966	0.924000	0.55760	4.010000	0.57117	2.763000	0.94921	0.563000	0.77884	GCC		0.468	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		6	103	0	0	0	1	0	6	103					T	133868563	C	T	133868563	3	4	38	1	0	0	0	0	1	0	0	0	8943	739	26	2	1334	2	LRGUK	7	133868563	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		133868563	25270100	5	791											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		7	36	0	0	0	1	0	7	36					T	140453136	A	T	140453136	3	4	38	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08	6584573	140453136	18685527	6	792											
CHRNA2	1135	broad.mit.edu	37	8	27324815	27324815	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr8:27324815A>G	ENST00000520933.2	-	4	533	c.380T>C	c.(379-381)tTt>tCt	p.F127S	CHRNA2_ENST00000240132.2_Missense_Mutation_p.F112S|CHRNA2_ENST00000407991.1_Missense_Mutation_p.F127S			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	127					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GATGTTGCCAAAATCAGTGGG	0.542																																						uc010lur.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(379-381)tTt>tCt		Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						118	114	116					8																	27324815		2203	4300	6503	SO:0001583	missense	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27324815A>G	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.380T>C	8.37:g.27324815A>G	ENSP00000429616:p.Phe127Ser		Somatic				CHRNA2_uc011lal.2_Missense_Mutation_p.F112S|CHRNA2_uc010lus.3_5'UTR	p.F127S	NM_000742	NP_000733	WXS	Illumina GAIIx	Phase_I	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	4	989	-		Ovarian(32;2.61e-05)	127					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.380T>C	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771163	0.49680	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79352	-1.26;-1.26;-1.26	5.52	4.24	0.50183	Neurotransmitter-gated ion-channel ligand-binding (3);	0.167516	0.53938	D	0.000050	D	0.85039	0.5606	M	0.84511	2.7	0.43662	D	0.996085	P;P	0.41102	0.738;0.738	P;P	0.53809	0.735;0.735	D	0.86682	0.1917	10	0.87932	D	0	.	9.1246	0.36807	0.7621:0.0:0.0:0.2379	.	112;127	B4DK19;Q15822	.;ACHA2_HUMAN	S	127;127;112	ENSP00000385026:F127S;ENSP00000429616:F127S;ENSP00000240132:F112S	ENSP00000240132:F112S	F	-	2	0	CHRNA2	27380732	0.999000	0.42202	0.381000	0.26106	0.015000	0.08874	3.806000	0.55583	2.091000	0.63221	0.533000	0.62120	TTT		0.542	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			3	29	0	0	0	1	0	3	29					G	27324815	A	G	27324815	3	3	38	1	0	0	0	0	1	0	0	0	3383	14	1	3	1221	3	CHRNA2	8	27324815	Missense_Mutation	SNP	A	TCGA-BJ-A45I-01A-11D-A23U-08		27324815	119039207	7	793											
SUFU	51684	broad.mit.edu	37	10	104309838	104309838	+	Silent	SNP	C	C	T			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr10:104309838C>T	ENST00000369902.3	+	3	595	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SUFU_ENST00000423559.2_Silent_p.G143G|SUFU_ENST00000369899.2_Silent_p.G143G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	143					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TAATGCAGGGCTTGGCACGAT	0.537			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.2			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(427-429)ggC>ggT		Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.							104	96	98					10																	104309838		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104309838C>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.429C>T	10.37:g.104309838C>T			Somatic				SUFU_uc001kvw.2_Silent_p.G143G|SUFU_uc001kvx.3_Silent_p.G143G	p.G143G	NM_016169	NP_057253	WXS	Illumina GAIIx	Phase_I	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	2	620	+		Colorectal(252;0.207)	143					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.429C>T	CCDS7537.1																																																																																				0.537	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		4	41	0	0	0	1	0	4	41					T	104309838	C	T	104309838	2	4	38	1	0	0	0	0	0	0	0	1	15367	784	28	2		2	SUFU	10	104309838	Silent	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		104309838	31224909	8	794											
C11orf58	10944	broad.mit.edu	37	11	16760369	16760369	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr11:16760369C>T	ENST00000228136.4	+	1	422	c.44C>T	c.(43-45)tCa>tTa	p.S15L	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_Missense_Mutation_p.S15L			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	15										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						GTGAAGCGTTCAGCCTCCCCA	0.597																																						uc001mmk.2																			0				NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						c.(43-45)tCa>tTa		Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA.							55	55	55					11																	16760369		2200	4294	6494	SO:0001583	missense	10944							g.chr11:16760369C>T	BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"small acidic protein"					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.44C>T	11.37:g.16760369C>T	ENSP00000228136:p.Ser15Leu		Somatic				SOX6_uc001mmh.1_5'Flank	p.S15L	NM_014267	NP_055082	WXS	Illumina GAIIx	Phase_I	O00193	SMAP_HUMAN			0	222	+			15					B2RD28	Missense_Mutation	SNP	ENST00000228136.4	37	c.44C>T	CCDS7822.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613371	0.87359	.	.	ENSG00000110696	ENST00000228136;ENST00000524439;ENST00000528634;ENST00000525684	.	.	.	5.88	5.88	0.94601	.	0.222216	0.38959	N	0.001511	T	0.62085	0.2399	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.63269	-0.6675	9	0.49607	T	0.09	.	15.7386	0.77866	0.0:1.0:0.0:0.0	.	15	O00193	SMAP_HUMAN	L	15	.	ENSP00000228136:S15L	S	+	2	0	C11orf58	16716945	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.513000	0.53414	2.784000	0.95788	0.655000	0.94253	TCA		0.597	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387023.2	NM_014267		3	35	0	0	0	1	0	3	35					T	16760369	C	T	16760369	3	4	38	1	0	0	0	0	1	0	0	0	1651	838	29	2	46	2	C11orf58	11	16760369	Missense_Mutation	SNP	C	TCGA-BJ-A45I-01A-11D-A23U-08		16760369	118246147	9	795											
CDH4	1002	broad.mit.edu	37	20	60511927	60511927	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45I-01A-11D-A23U-08	TCGA-BJ-A45I-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5b13884-6885-4ecd-b7a9-21085bca623a	f7390ccb-39a9-4ca0-9666-40768e1512ec	g.chr20:60511927T>C	ENST00000360469.5	+	16	2765	c.2677T>C	c.(2677-2679)Tac>Cac	p.Y893H	CDH4_ENST00000543233.1_Missense_Mutation_p.Y819H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	893					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)			GGACCAAGACTACGATTACCT	0.587																																						uc002ybn.2																			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.(2677-2679)Tac>Cac		Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.							76	60	65					20																	60511927		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511927T>C	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2677T>C	20.37:g.60511927T>C	ENSP00000353656:p.Tyr893His		Somatic				CDH4_uc002ybr.2_Missense_Mutation_p.Y856H|CDH4_uc002ybp.2_Missense_Mutation_p.Y819H	p.Y893H	NM_001794	NP_001785	WXS	Illumina GAIIx	Phase_I	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		15	2765	+			893					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2677T>C	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587240	0.86851	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.79940	-1.32;-1.32	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.069166	0.64402	D	0.000012	D	0.90130	0.6916	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91509	0.5225	9	.	.	.	.	13.8037	0.63218	0.0:0.0:0.0:1.0	.	893	P55283	CADH4_HUMAN	H	893;801;819	ENSP00000353656:Y893H;ENSP00000443301:Y819H	.	Y	+	1	0	CDH4	59945322	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.812000	0.86109	1.681000	0.50988	0.383000	0.25322	TAC		0.587	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		3	26	0	0	0	1	0	3	26					C	60511927	T	C	60511927	3	2	38	1	0	0	0	0	1	0	0	0	3112	1522	53	3	2739	3	CDH4	20	60511927	Missense_Mutation	SNP	T	TCGA-BJ-A45I-01A-11D-A23U-08		60511927	2513593	10	796											
SPTA1	6708	broad.mit.edu	37	1	158618337	158618337	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr1:158618337C>T	ENST00000368147.4	-	26	3856	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1226					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)					TCAAAGCCCTCATGCCGTCGC	0.498																																						uc001fst.1																			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.(3676-3678)Gag>Aag		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							117	118	117					1																	158618337		1944	4122	6066	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.chr1:158618337C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3676G>A	1.37:g.158618337C>T	ENSP00000357129:p.Glu1226Lys		Somatic					p.E1226K	NM_003126	NP_003117	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			25	3875	-	all_hematologic(112;0.0378)		1226					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3676G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656545	0.67586	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.46451	0.87;0.87	5.5	4.59	0.56863	.	0.256191	0.20414	N	0.092808	T	0.31638	0.0803	M	0.66560	2.04	0.54753	D	0.999988	B	0.17667	0.023	B	0.29862	0.108	T	0.28744	-1.0034	10	0.51188	T	0.08	.	13.4011	0.60883	0.0:0.9242:0.0:0.0758	.	1226	P02549	SPTA1_HUMAN	K	1226	ENSP00000357130:E1226K;ENSP00000357129:E1226K	ENSP00000357129:E1226K	E	-	1	0	SPTA1	156884961	1.000000	0.71417	0.841000	0.33234	0.948000	0.59901	5.440000	0.66563	1.564000	0.49628	-0.137000	0.14449	GAG		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	75	0	0	0	1	0	8	75					T	158618337	C	T	158618337	3	4	39	1	0	0	0	0	1	0	0	0	15115	835	29	2	3691	2	SPTA1	1	158618337	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08		158618337	90632284	1	797											
CAPN9	10753	broad.mit.edu	37	1	230898481	230898481	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr1:230898481C>T	ENST00000271971.2	+	4	598	c.485C>T	c.(484-486)tCt>tTt	p.S162F	CAPN9_ENST00000366666.2_Missense_Mutation_p.S99F|CAPN9_ENST00000354537.1_Missense_Mutation_p.S162F|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	162	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTCCTCCACTCTGCCGACCAC	0.587																																						uc001htz.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(484-486)tCt>tTt		Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.							107	92	97					1																	230898481		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230898481C>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.485C>T	1.37:g.230898481C>T	ENSP00000271971:p.Ser162Phe		Somatic				CAPN9_uc009xfg.1_Missense_Mutation_p.S99F|CAPN9_uc001hua.1_Missense_Mutation_p.S162F	p.S162F	NM_006615	NP_006606	WXS	Illumina GAIIx	Phase_I	O14815	CAN9_HUMAN			3	598	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	162			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.485C>T	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062664	0.93898	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.91351	-2.83;-2.83;-2.83	5.33	5.33	0.75918	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98693	1.0697	10	0.87932	D	0	.	19.0115	0.92875	0.0:1.0:0.0:0.0	.	99;162;162	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	F	162;162;99	ENSP00000271971:S162F;ENSP00000346538:S162F;ENSP00000355626:S99F	ENSP00000271971:S162F	S	+	2	0	CAPN9	228965104	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	7.415000	0.80131	2.489000	0.83994	0.591000	0.81541	TCT		0.587	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		4	29	0	0	0	1	0	4	29					T	230898481	C	T	230898481	3	4	39	1	0	0	0	0	1	0	0	0	2632	913	32	2	499	2	CAPN9	1	230898481	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08	72280144	230898481	18352140	2	798											
SRBD1	55133	broad.mit.edu	37	2	45801777	45801777	+	Silent	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr2:45801777G>A	ENST00000263736.4	-	8	1220	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	386					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTTCCGAATGAAGTCAAGCG	0.388																																						uc002rus.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1156-1158)ttC>ttT		Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.							129	124	125					2																	45801777		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds	g.chr2:45801777G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1158C>T	2.37:g.45801777G>A			Somatic					p.F386F	NM_018079	NP_060549	WXS	Illumina GAIIx	Phase_I	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		7	1234	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	386					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.1158C>T	CCDS1823.1																																																																																				0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		4	60	0	0	0	1	0	4	60					A	45801777	G	A	45801777	2	1	39	1	0	0	0	0	0	0	0	1	15132	1281	45	2		2	SRBD1	2	45801777	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		45801777	197397596	3	799											
USP34	9736	broad.mit.edu	37	2	61438933	61438933	+	Silent	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr2:61438933G>A	ENST00000398571.2	-	69	8890	c.8814C>T	c.(8812-8814)ggC>ggT	p.G2938G	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2938					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)			AGCAGGAGCGGCCATCTAAGC	0.343																																						uc002sbe.3																			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.(8812-8814)ggC>ggT		Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.							91	85	87					2																	61438933		1859	4094	5953	SO:0001819	synonymous_variant	9736				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61438933G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8814C>T	2.37:g.61438933G>A			Somatic					p.G2938G	NM_014709	NP_055524	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8836	-			2938					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.8814C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	9.592	1.126463	0.20959	.	.	ENSG00000115464	ENST00000411912	.	.	.	6.06	4.23	0.50019	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45352	-0.9267	4	.	.	.	.	4.1984	0.10453	0.0755:0.1222:0.454:0.3483	.	.	.	.	S	698	.	.	P	-	1	0	USP34	61292437	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.237000	0.17985	1.531000	0.49152	0.650000	0.86243	CCG		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	21	0	0	0	1	0	3	21					A	61438933	G	A	61438933	2	1	39	1	0	0	0	0	0	0	0	1	17062	1190	42	2		2	USP34	2	61438933	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	15637156	61438933	181760440	4	800											
LPP	4026	broad.mit.edu	37	3	188426115	188426115	+	Missense_Mutation	SNP	G	G	C	rs375414038		TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr3:188426115G>C	ENST00000312675.4	+	7	1420	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.E392Q|LPP_ENST00000543006.1_Missense_Mutation_p.E392Q	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	392					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCCAGAGGATGAGCTTGAGCA	0.512			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																	uc003frs.2				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"L, M"	"HMGA2, MLL, C12orf9"		"lipoma, leukemia"	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1174-1176)Gag>Cag		Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.							144	125	132					3																	188426115		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188426115G>C	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1174G>C	3.37:g.188426115G>C	ENSP00000318089:p.Glu392Gln		Somatic				LPP_uc011bsg.2_Missense_Mutation_p.E245Q|LPP_uc011bsi.2_Missense_Mutation_p.E392Q|LPP_uc003frt.3_Missense_Mutation_p.E392Q|LPP_uc011bsj.2_Missense_Mutation_p.E229Q	p.E392Q	NM_005578	NP_005569	WXS	Illumina GAIIx	Phase_I	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	1420	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	392					A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1174G>C	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113277	0.77210	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.62498	0.3;0.26;0.26;0.02	5.74	4.87	0.63330	.	0.177576	0.64402	D	0.000014	T	0.72614	0.3482	L	0.61218	1.895	0.52099	D	0.999947	P;D;P	0.89917	0.455;1.0;0.739	B;D;P	0.91635	0.055;0.999;0.667	T	0.69224	-0.5201	10	0.13108	T	0.6	.	12.145	0.54018	0.0787:0.0:0.9213:0.0	.	245;392;392	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	Q	392;392;392;229	ENSP00000393602:E392Q;ENSP00000318089:E392Q;ENSP00000438891:E392Q;ENSP00000393008:E229Q	ENSP00000318089:E392Q	E	+	1	0	LPP	189908809	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.535000	0.82014	1.441000	0.47550	0.563000	0.77884	GAG		0.512	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		8	67	0	0	0	1	0	8	67					C	188426115	G	C	188426115	3	2	39	1	0	0	0	0	1	0	0	0	8923	1291	45	4	1192	4	LPP	3	188426115	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		188426115	9596315	5	801											
ULBP1	80329	broad.mit.edu	37	6	150290338	150290338	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr6:150290338G>A	ENST00000229708.3	+	3	510	c.467G>A	c.(466-468)aGa>aAa	p.R156K		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	156	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCAAACAACAGAAAGTGGACA	0.493																																						uc003qnp.3																			0				large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10						c.(466-468)aGa>aAa		Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.							85	83	83					6																	150290338		2203	4300	6503	SO:0001583	missense	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity	g.chr6:150290338G>A	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.467G>A	6.37:g.150290338G>A	ENSP00000229708:p.Arg156Lys		Somatic					p.R156K	NM_025218	NP_079494	WXS	Illumina GAIIx	Phase_I	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	2	510	+		Ovarian(120;0.0907)	156			MHC class I alpha-2 like.		Q5VY81|Q8IZW3|Q8IZX6	Missense_Mutation	SNP	ENST00000229708.3	37	c.467G>A	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	g	1.908	-0.451503	0.04572	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	T;T	0.58358	0.34;0.34	2.33	-0.473	0.12112	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.18841	0.0452	L	0.38838	1.175	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.33445	-0.9868	9	0.72032	D	0.01	.	4.7846	0.13219	0.5055:0.0:0.4945:0.0	.	156	Q9BZM6	N2DL1_HUMAN	K	156	ENSP00000356314:R156K;ENSP00000229708:R156K	ENSP00000229708:R156K	R	+	2	0	ULBP1	150332031	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.843000	0.04350	-0.138000	0.11434	0.460000	0.39030	AGA		0.493	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			5	65	0	0	0	1	0	5	65					A	150290338	G	A	150290338	3	1	39	1	0	0	0	0	1	0	0	0	16969	942	33	2	477	2	ULBP1	6	150290338	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		150290338	20824729	6	802											
MET	4233	broad.mit.edu	37	7	116436137	116436137	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr7:116436137G>C	ENST00000318493.6	+	21	4373	c.4186G>C	c.(4186-4188)Gag>Cag	p.E1396Q	MET_ENST00000539704.1_Missense_Mutation_p.E248Q|MET_ENST00000397752.3_Missense_Mutation_p.E1378Q			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTGATGATGAGGTGGACAC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc010lkh.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(4186-4188)Gag>Cag		Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 1, mRNA.							199	182	188					7																	116436137		2018	4192	6210	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116436137G>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4186G>C	7.37:g.116436137G>C	ENSP00000317272:p.Glu1396Gln		Somatic				MET_uc003vij.3_Missense_Mutation_p.E1378Q|MET_uc011knj.2_Missense_Mutation_p.E948Q	p.E1396Q	NM_001127500	NP_001120972	WXS	Illumina GAIIx	Phase_I	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		20	4373	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1378					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.4186G>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084626	0.36758	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.77489	-0.77;-0.77;-1.1	4.43	3.54	0.40534	.	0.820510	0.11893	N	0.519411	T	0.71031	0.3292	L	0.42245	1.32	0.09310	N	1	B;B	0.27416	0.178;0.112	B;B	0.32342	0.144;0.063	T	0.59989	-0.7350	10	0.38643	T	0.18	.	9.0907	0.36610	0.1723:0.0:0.8277:0.0	.	1396;1378	P08581-2;P08581	.;MET_HUMAN	Q	1378;1396;248	ENSP00000380860:E1378Q;ENSP00000317272:E1396Q;ENSP00000445020:E248Q	ENSP00000317272:E1396Q	E	+	1	0	MET	116223373	0.999000	0.42202	0.031000	0.17742	0.259000	0.26198	3.345000	0.52182	0.804000	0.34136	0.655000	0.94253	GAG		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			11	133	0	0	0	1	0	11	133					C	116436137	G	C	116436137	3	2	39	1	0	0	0	0	1	0	0	0	9485	1291	45	4	4264	4	MET	7	116436137	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		116436137	42702526	7	803											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	41	0	0	0	1	0	24	41					T	140453136	A	T	140453136	3	4	39	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A45J-01A-11D-A23U-08	24016999	140453136	18685527	8	804											
GLE1	2733	broad.mit.edu	37	9	131296128	131296128	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr9:131296128G>C	ENST00000309971.4	+	11	1650	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Missense_Mutation_p.R515T|GLE1_ENST00000539582.1_Missense_Mutation_p.R261T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	515					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCACCCCAGAGTGGGGGAC	0.507																																						uc004bvj.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1543-1545)aGa>aCa		Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.							128	119	122					9																	131296128		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131296128G>C	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1544G>C	9.37:g.131296128G>C	ENSP00000308622:p.Arg515Thr		Somatic				GLE1_uc004bvi.3_Missense_Mutation_p.R515T|GLE1_uc010myd.3_Missense_Mutation_p.R261T	p.R515T	NM_001003722	NP_001003722	WXS	Illumina GAIIx	Phase_I	Q53GS7	GLE1_HUMAN			10	1658	+			515					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.1544G>C	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091183	0.55968	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.71698	-0.59;-0.59;-0.59	5.66	3.81	0.43845	.	0.364959	0.34110	N	0.004247	T	0.67487	0.2898	L	0.47716	1.5	0.09310	N	1	P;P	0.52463	0.772;0.953	P;P	0.51742	0.511;0.678	T	0.56245	-0.8011	10	0.20046	T	0.44	-9.662	8.1027	0.30868	0.2455:0.0:0.7545:0.0	.	515;515	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	T	515;515;261	ENSP00000308622:R515T;ENSP00000361856:R515T;ENSP00000438670:R261T	ENSP00000308622:R515T	R	+	2	0	GLE1	130335949	0.987000	0.35691	0.986000	0.45419	0.985000	0.73830	2.277000	0.43417	0.736000	0.32559	0.561000	0.74099	AGA		0.507	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		7	90	0	0	0	1	0	7	90					C	131296128	G	C	131296128	3	2	39	1	0	0	0	0	1	0	0	0	6435	942	33	4	1586	4	GLE1	9	131296128	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		131296128	9917303	9	805											
C9orf172	389813	broad.mit.edu	37	9	139740266	139740266	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	85f7f6d9-9498-409c-99fc-d0853b075689	g.chr9:139740266G>A	ENST00000436881.1	+	1	1400	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	467										endometrium(2)|large_intestine(1)|lung(6)	9						GGCCGCGGCCGCAGCTACGAG	0.746																																						uc011meh.2																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(1399-1401)cGc>cAc		Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.							3	4	4					9																	139740266		1606	3603	5209	SO:0001583	missense	389813							g.chr9:139740266G>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.1400G>A	9.37:g.139740266G>A	ENSP00000412388:p.Arg467His		Somatic				PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	p.R467H	NM_001080482	NP_001073951	WXS	Illumina GAIIx	Phase_I	C9J069	CI172_HUMAN			0	1400	+			467						Missense_Mutation	SNP	ENST00000436881.1	37	c.1400G>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.015572	0.75161	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	T	0.63745	0.2537	L	0.29908	0.895	0.37660	D	0.92272	D	0.89917	1.0	D	0.69824	0.966	T	0.71682	-0.4519	8	0.87932	D	0	-9.2397	13.6816	0.62489	0.0:0.0:1.0:0.0	.	467	C9J069	CI172_HUMAN	H	467	.	ENSP00000412388:R467H	R	+	2	0	C9orf172	138860087	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.530000	0.45641	1.757000	0.51966	0.472000	0.43445	CGC		0.746	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		2	1	0	0	0	1	0	2	1					A	139740266	G	A	139740266	3	1	39	1	0	0	0	0	1	0	0	0	2471	1087	38	1	1402	1	C9orf172	9	139740266	Missense_Mutation	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	8444138	139740266	1473165	10	806											
CHRNA10	57053	broad.mit.edu	37	11	3687763	3687763	+	Silent	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr11:3687763G>A	ENST00000250699.2	-	5	998	c.927C>T	c.(925-927)gtC>gtT	p.V309V	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_3'UTR|Y_RNA_ENST00000364409.1_RNA|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	309					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	TTGAGAATGTGACCATGGTCA	0.537																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.3																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(925-927)gtC>gtT		Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						87	86	87					11																	3687763		2201	4298	6499	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687763G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.927C>T	11.37:g.3687763G>A			Somatic				CHRNA10_uc010qxt.2_Silent_p.V103V|CHRNA10_uc010qxu.2_Silent_p.V103V	p.V309V	NM_020402	NP_065135	WXS	Illumina GAIIx	Phase_I	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	999	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	309						Silent	SNP	ENST00000250699.2	37	c.927C>T	CCDS7745.1																																																																																				0.537	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			3	28	0	0	0	1	0	3	28					A	3687763	G	A	3687763	2	1	39	1	0	0	0	0	0	0	0	1	3382	1277	45	2		2	CHRNA10	11	3687763	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		3687763	131318753	11	807											
OR5M10	390167	broad.mit.edu	37	11	56344739	56344739	+	Silent	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr11:56344739G>A	ENST00000526812.2	-	1	524	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	153						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)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCCCATTAAGGAAGCCATACA	0.458																																						uc001niz.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(457-459)ttC>ttT		Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.							163	156	158					11																	56344739		2020	4198	6218	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344739G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"GPCR / Class A : Olfactory receptors"	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.459C>T	11.37:g.56344739G>A			Somatic				OR8U8_uc001nit.2_Intron	p.F153F	NM_001004741	NP_001004741	WXS	Illumina GAIIx	Phase_I	Q6IEU7	OR5MA_HUMAN			0	459	-			153					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.459C>T	CCDS53630.1																																																																																				0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		4	70	0	0	0	1	0	4	70					A	56344739	G	A	56344739	2	1	39	1	0	0	0	0	0	0	0	1	11173	1165	41	2		2	OR5M10	11	56344739	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08	52656976	56344739	78661777	12	808											
CYP1A2	1544	broad.mit.edu	37	15	75042337	75042337	+	Silent	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr15:75042337G>A	ENST00000343932.4	+	2	321	c.258G>A	c.(256-258)ctG>ctA	p.L86L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	86					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CGCCCGTGCTGGTGCTGAGCC	0.652																																						uc002ayr.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(256-258)ctG>ctA		Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						50	45	47					15																	75042337		2196	4296	6492	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042337G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.258G>A	15.37:g.75042337G>A			Somatic					p.L86L	NM_000761	NP_000752	WXS	Illumina GAIIx	Phase_I	P05177	CP1A2_HUMAN			1	322	+			86					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.258G>A	CCDS32293.1																																																																																				0.652	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		5	55	0	0	0	1	0	5	55					A	75042337	G	A	75042337	2	1	39	1	0	0	0	0	0	0	0	1	4150	1335	47	2		2	CYP1A2	15	75042337	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		75042337	27489055	13	809											
PDF	64146	broad.mit.edu	37	16	69364026	69364028	+	In_Frame_Del	DEL	GGG	GGG	-	rs150474895	byFrequency	TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr16:69364026_69364028delGGG	ENST00000288022.1	-	1	470_472	c.446_448delCCC	c.(445-450)cccctg>ctg	p.P149del	RP11-343C2.12_ENST00000562949.1_Intron|COG8_ENST00000306875.4_Intron|COG8_ENST00000564419.1_5'Flank	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	149					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|positive regulation of cell proliferation (GO:0008284)|translation (GO:0006412)	mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|peptide deformylase activity (GO:0042586)			NS(1)|prostate(1)	2						AACACGCGCAGGGGGAAGGGCTC	0.734														61	0.0121805	0.0446	0.0029	5008	,	,		12763	0		0	False		,,,				2504	0					uc002ewx.1																			0		p.F148F(1)		NS(1)|prostate(1)	2						c.(445-450)cccctg>ctg		Homo sapiens peptide deformylase (mitochondrial) (PDF), nuclear gene encoding mitochondrial protein, mRNA.			,	145,3845		11,123,1861					,	4.3	1.0		dbSNP_134	10	8,7662		3,2,3830	no	intron,coding	PDF,COG8	NM_032382.4,NM_022341.1	,	14,125,5691	A1A1,A1R,RR		0.1043,3.6341,1.3122	,	,		153,11507				SO:0001651	inframe_deletion	64146				N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity	g.chr16:69364026_69364028delGGG	AF239156	CCDS10875.1	16q22.1	2008-02-05				ENSG00000258429	3.5.1.88		30012	protein-coding gene	gene with protein product						11060042, 15489958	Standard	NM_022341		Approved		uc002ewx.1	Q9HBH1		ENST00000288022.1:c.446_448delCCC	16.37:g.69364026_69364028delGGG	ENSP00000288022:p.Pro149del		Somatic				COG8_uc002ewy.2_Intron	p.P149del	NM_022341	NP_071736	WXS	Illumina GAIIx	Phase_I	Q9HBH1	DEFM_HUMAN			0	471_473	-			149					Q8WUN6	In_Frame_Del	DEL	ENST00000288022.1	37	c.446_448delCCC	CCDS10875.1																																																																																				0.734	PDF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413022.1	NM_022341		3	4						3	4	---	---	---	---	-	69364028	GGG	-	69364026	7	5	39	1	0	1	0	1	0	0	0	0	11656	991	35	0	291	0	PDF	16	69364026	In_Frame_Del	DEL	GGG	TCGA-BJ-A45J-01A-11D-A23U-08		69364026	20990727	14	810											
EFTUD2	9343	broad.mit.edu	37	17	42941049	42941049	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr17:42941049C>T	ENST00000426333.2	-	15	1684	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E453K|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E428K|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E463K	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	463					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTCATAGCCTCGCCGAGGTCG	0.552																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1387-1389)Gag>Aag		Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.							122	96	105					17																	42941049		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42941049C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1387G>A	17.37:g.42941049C>T	ENSP00000392094:p.Glu463Lys		Somatic				EFTUD2_uc010wje.1_Missense_Mutation_p.E428K|EFTUD2_uc010wjf.1_Missense_Mutation_p.E453K	p.E463K	NM_004247	NP_001136077	WXS	Illumina GAIIx	Phase_I	Q15029	U5S1_HUMAN			14	1648	-		Prostate(33;0.109)	463					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1387G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975043	0.74360	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.79845	-1.31;-1.31	6.04	6.04	0.98038	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	N	0.16743	0.435	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.64193	-0.6465	10	0.07030	T	0.85	-17.5973	20.5792	0.99380	0.0:1.0:0.0:0.0	.	453;463	B4DMC0;Q15029	.;U5S1_HUMAN	K	463;453;428	ENSP00000392094:E463K;ENSP00000385873:E428K	ENSP00000262414:E453K	E	-	1	0	EFTUD2	40296575	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.453000	0.80700	2.873000	0.98535	0.561000	0.74099	GAG		0.552	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		5	57	0	0	0	1	0	5	57					T	42941049	C	T	42941049	3	4	39	1	0	0	0	0	1	0	0	0	4961	893	31	1	1587	1	EFTUD2	17	42941049	Missense_Mutation	SNP	C	TCGA-BJ-A45J-01A-11D-A23U-08		42941049	38254161	15	811											
BTBD2	55643	broad.mit.edu	37	19	1987243	1987243	+	Silent	SNP	G	G	A			TCGA-BJ-A45J-01A-11D-A23U-08	TCGA-BJ-A45J-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b17eaad-3496-4bdc-8eac-abe6cec00111	05324ee2-6eb5-4fa0-9c09-b78c3b257c10	g.chr19:1987243G>A	ENST00000255608.4	-	7	1207	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	397						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		TGCGCTTGTTGACTGAGAACC	0.617																																						uc002lup.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1189-1191)gtC>gtT		Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.							167	144	152					19																	1987243		2203	4300	6503	SO:0001819	synonymous_variant	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1987243G>A	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1191C>T	19.37:g.1987243G>A			Somatic				BTBD2_uc002luo.1_Silent_p.V76V	p.V397V	NM_017797	NP_060267	WXS	Illumina GAIIx	Phase_I	Q9BX70	BTBD2_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)	6	1191	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	397					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	c.1191C>T	CCDS12078.1																																																																																				0.617	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			4	28	0	0	0	1	0	4	28					A	1987243	G	A	1987243	2	1	39	1	0	0	0	0	0	0	0	1	1543	1277	45	2		2	BTBD2	19	1987243	Silent	SNP	G	TCGA-BJ-A45J-01A-11D-A23U-08		1987243	57141740	16	812											
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	C	T	rs149579028	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr2:166866283C>T	ENST00000303395.4	-	20	3947	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1288R|SCN1A_ENST00000423058.2_Silent_p.R1316R|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.R1305R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1316					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R1305R(1)|p.R1316R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTTAGTGTCCTGAGAGATT	0.368													C|||	3	0.000599042	0.0023	0	5008	,	,		14005	0		0	False		,,,				2504	0					uc002udo.4																			2	Substitution - coding silent(2)	p.R1305R(1)|p.R1316R(1)	lung(2)	NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3946-3948)agG>agA		Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	,,,	8,4398	14.3+/-33.2	0,8,2195	88	87	88		3948,3864,3948,3915	2.3	1.0	2	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,,	1316/2010,1288/1982,1316/2010,1305/1999	166866283	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866283C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3948G>A	2.37:g.166866283C>T			Somatic				SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R	p.R1316R	NM_001202435	NP_001189364	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			21	4175	-			1316					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3948G>A	CCDS54413.1																																																																																				0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		16	12	0	0	0	1	0	16	12					T	166866283	C	T	166866283	2	4	40	1	0	0	0	0	0	0	0	1	13914	854	30	2		2	SCN1A	2	166866283	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		166866283	76333090	1	813											
SPON2	10417	broad.mit.edu	37	4	1165200	1165200	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr4:1165200C>T	ENST00000290902.5	-	3	627	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_ENST00000431380.1_Missense_Mutation_p.E99K	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	99	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TCGCCGCGCTCCGCAAAGTCG	0.711																																						uc021xkj.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(295-297)Gag>Aag		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA.							25	27	27					4																	1165200		2182	4274	6456	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165200C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.295G>A	4.37:g.1165200C>T	ENSP00000290902:p.Glu99Lys		Somatic				SPON2_uc003gco.4_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K	p.E99K	NM_001199021	NP_001185950	WXS	Illumina GAIIx	Phase_I	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	4	920	-			99			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.295G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566622	0.86439	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.67171	-0.25;-0.25;-0.25	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.989	D	0.90031	0.4135	10	0.87932	D	0	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	99;99;99	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	K	99	ENSP00000290902:E99K;ENSP00000394832:E99K;ENSP00000424542:E99K	ENSP00000290902:E99K	E	-	1	0	SPON2	1155200	1.000000	0.71417	0.772000	0.31596	0.083000	0.17756	5.317000	0.65822	2.053000	0.61076	0.511000	0.50034	GAG		0.711	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			12	42	0	0	0	1	0	12	42					T	1165200	C	T	1165200	3	4	40	1	0	0	0	0	1	0	0	0	15082	864	30	2	716	2	SPON2	4	1165200	Missense_Mutation	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		1165200	189989076	2	814											
CRH	1392	broad.mit.edu	37	8	67089559	67089561	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr8:67089559_67089561delGCG	ENST00000276571.3	-	2	598_600	c.152_154delCGC	c.(151-156)ccgcag>cag	p.P51del		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	51					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCTCGGACTGCGGCGGCGGCTG	0.734											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xvy.2																			0				breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5						c.(151-156)ccgcag>cag		Homo sapiens corticotropin releasing hormone (CRH), mRNA.	Corticotropin(DB01285)			3,13,3098		1,0,1,2,9,1544						-0.8	1.0		dbSNP_107	3	3,36,6773		0,0,3,5,26,3372	no	codingComplex	CRH	NM_000756.2		1,0,4,7,35,4916	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5725,0.5138,0.5541				6,49,9871				SO:0001651	inframe_deletion	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089559_67089561delGCG		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"Endogenous ligands"	2355	protein-coding gene	gene with protein product	"corticotropin-releasing factor", "corticoliberin"	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.152_154delCGC	8.37:g.67089565_67089567delGCG	ENSP00000276571:p.Pro51del		Somatic	OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096	CRH_uc022avj.1_In_Frame_Del_p.P51del	p.P51del	NM_000756	NP_000747	WXS	Illumina GAIIx	Phase_I	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		1	485_487	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	51					B3KQS4	In_Frame_Del	DEL	ENST00000276571.3	37	c.152_154delCGC	CCDS6188.1																																																																																				0.734	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		2	4						2	4	---	---	---	---	-	67089561	GCG	-	67089559	7	5	40	1	0	1	0	1	0	0	0	0	3869	1328	46	0	440	0	CRH	8	67089559	In_Frame_Del	DEL	GCG	TCGA-BJ-A45K-01A-11D-A23U-08		67089559	79274463	3	815											
GLYATL2	219970	broad.mit.edu	37	11	58604779	58604779	+	Missense_Mutation	SNP	T	T	C	rs186195231	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr11:58604779T>C	ENST00000287275.1	-	4	668	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	93						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCTGATTACATTGGAGTATGA	0.393													T|||	16	0.00319489	0	0.0014	5008	,	,		20530	0.001		0	False		,,,				2504	0.0143					uc001nnd.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(277-279)aAt>aGt		Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	Glycine(DB00145)	T	SER/ASN	0,3718		0,0,1859	225	208	213		278	1.9	0.0	11		213	8,8188		0,8,4090	yes	missense	GLYATL2	NM_145016.3	46	0,8,5949	CC,CT,TT		0.0976,0.0,0.0671	benign	93/295	58604779	8,11906	1859	4098	5957	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58604779T>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.278A>G	11.37:g.58604779T>C	ENSP00000287275:p.Asn93Ser		Somatic				GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S	p.N93S	NM_145016	NP_659453	WXS	Illumina GAIIx	Phase_I	Q8WU03	GLYL2_HUMAN			3	409	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	93					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.278A>G	CCDS41649.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	7.585	0.669469	0.14776	0.0	9.76E-4	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.14266	2.52;2.52	4.24	1.89	0.25635	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.033050	0.07713	U	0.942420	T	0.06554	0.0168	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36237	-0.9756	10	0.46703	T	0.11	.	5.3587	0.16075	0.0:0.2367:0.0:0.7633	.	93	Q8WU03	GLYL2_HUMAN	S	93	ENSP00000287275:N93S;ENSP00000434277:N93S	ENSP00000287275:N93S	N	-	2	0	GLYATL2	58361355	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.371000	0.20450	0.518000	0.28383	0.524000	0.50904	AAT		0.393	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		25	32	0	0	0	1	0	25	32					C	58604779	T	C	58604779	3	2	40	1	0	0	0	0	1	0	0	0	6481	1493	52	3	618	3	GLYATL2	11	58604779	Missense_Mutation	SNP	T	TCGA-BJ-A45K-01A-11D-A23U-08		58604779	76401737	4	816											
CTSH	1512	broad.mit.edu	37	15	79220056	79220057	+	Splice_Site	INS	-	-	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr15:79220056_79220057insT	ENST00000220166.5	-	9	806_807	c.697_698insA	c.(697-699)atc>aAtc	p.I233fs	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	233					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCACTCACGATTGTGATGTTG	0.535																																						uc021srk.1																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						c.e9+1		Homo sapiens cathepsin H (CTSH), mRNA.																																				SO:0001630	splice_region_variant	1512				protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr15:79220056_79220057insT	X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.699+1->A	15.37:g.79220058_79220058dupT			Somatic				CTSH_uc010unf.1_Splice_Site	p.I233_splice	NM_004390	NP_004381	WXS	Illumina GAIIx	Phase_I	P09668	CATH_HUMAN			9	796	-			233					B2RBK0|Q96NY6|Q9BUM7	Splice_Site	INS	ENST00000220166.5	37	c.699_splice	CCDS10308.1																																																																																				0.535	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390	Frame_Shift_Ins	18	33						18	33	---	---	---	---	T	79220057	-	T	79220056	8	5	40	1	0	1	1	0	0	0	1	0	4036	347	12	0	325	0	CTSH	15	79220056	Splice_Site	INS	-	TCGA-BJ-A45K-01A-11D-A23U-08		79220056	23311336	5	817											
SULT1A1	6817	broad.mit.edu	37	16	28631452	28631452	+	5'UTR	SNP	T	T	C	rs546816346		TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr16:28631452T>C	ENST00000395609.1	-	0	425				SULT1A1_ENST00000350842.4_Missense_Mutation_p.M24V			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AGAATGCTCATACCTATTTGC	0.333													.|||	1	0.000199681	0	0.0014	5008	,	,		16290	0		0	False		,,,				2504	0					uc002dqm.3																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(70-72)Atg>Gtg		Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA.							102	99	100					16																	28631452		2197	4300	6497	SO:0001623	5_prime_UTR_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631452T>C	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395609.1:c.-334A>G	16.37:g.28631452T>C			Somatic				NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqp.3_5'UTR|SULT1A1_uc002dqn.3_5'UTR	p.M24V	NM_177536	NP_803880	WXS	Illumina GAIIx	Phase_I	P50225	ST1A1_HUMAN			1	459	-			0					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395609.1	37	c.70A>G	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	t	5.489	0.275224	0.10403	.	.	ENSG00000196502	ENST00000350842	T	0.02216	4.39	1.01	1.01	0.19927	.	.	.	.	.	T	0.02047	0.0064	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.14578	0.011	T	0.49409	-0.8943	8	0.87932	D	0	.	4.2403	0.10645	0.0:0.0:0.0:1.0	.	24	P50225-2	.	V	24	ENSP00000329399:M24V	ENSP00000329399:M24V	M	-	1	0	SULT1A1	28538953	0.991000	0.36638	0.972000	0.41901	0.424000	0.31475	0.207000	0.17395	0.427000	0.26145	0.076000	0.15429	ATG		0.333	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		11	9	0	0	0	1	0	11	9					C	28631452	T	C	28631452	1	2	40	0	1	0	0	0	0	0	0	0	15371	1406	49	3		3	SULT1A1	16	28631452	5'UTR	SNP	T	TCGA-BJ-A45K-01A-11D-A23U-08		28631452	61723301	6	818											
KIAA1267	284058	broad.mit.edu	37	17	44159834	44159834	+	Silent	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:44159834C>T	ENST00000262419.6	-	4	1976	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_ENST00000572904.1_Silent_p.V502V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000432791.1_Silent_p.V502V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	502					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GATCTGTCTTCACCTCAGAAC	0.428																																						uc002ikc.3																			0											c.(1504-1506)gtG>gtA		Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.							81	80	80					17																	44159834		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44159834C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1506G>A	17.37:g.44159834C>T			Somatic				KANSL1_uc002ikd.3_Silent_p.V502V|KANSL1_uc010dav.3_Silent_p.V502V	p.V502V	NM_001193466	NP_056258	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			3	1977	-			502					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.1506G>A	CCDS11503.1																																																																																				0.428	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	27	0	0	0	1	0	4	27					T	44159834	C	T	44159834	2	4	40	1	0	0	0	0	0	0	0	1	8219	813	29	2		2	KIAA1267	17	44159834	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		44159834	37035376	7	819											
SDK2	54549	broad.mit.edu	37	17	71380017	71380017	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:71380017G>A	ENST00000392650.3	-	33	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1568	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACTCACAGGTAAGCTCAGC	0.607																																						uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4702-4704)aCc>aTc		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.							93	79	84					17																	71380017		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71380017G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4703C>T	17.37:g.71380017G>A	ENSP00000376421:p.Thr1568Ile		Somatic				SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I	p.T1568I	NM_001144952	NP_001138424	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			32	4703	-			1568			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4703C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657890	0.29425	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.61510	0.1;0.22;0.22	5.47	4.5	0.54988	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.104467	0.64402	D	0.000004	T	0.58481	0.2125	M	0.74647	2.275	0.24991	N	0.991536	B;B;B	0.33212	0.402;0.006;0.021	B;B;B	0.33620	0.167;0.021;0.059	T	0.55698	-0.8100	10	0.45353	T	0.12	.	13.6786	0.62469	0.0752:0.0:0.9248:0.0	.	1568;1568;1568	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	I	1192;1568;1568;744;1568	ENSP00000376421:T1568I;ENSP00000373378:T1568I;ENSP00000407098:T744I	ENSP00000324967:T1568I	T	-	2	0	SDK2	68891612	1.000000	0.71417	0.997000	0.53966	0.063000	0.16089	6.424000	0.73366	1.303000	0.44873	0.561000	0.74099	ACC		0.607	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		13	25	0	0	0	1	0	13	25					A	71380017	G	A	71380017	3	1	40	1	0	0	0	0	1	0	0	0	13969	1261	44	2	1867	2	SDK2	17	71380017	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08	27220183	71380017	9815193	8	820											
RYR1	6261	broad.mit.edu	37	19	38959963	38959963	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr19:38959963G>T	ENST00000359596.3	+	27	3575	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I|RYR1_ENST00000355481.4_Missense_Mutation_p.S1192I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1192	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	CCCGTCTGCAGCTTGGGACCT	0.647																																						uc002oit.3																			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.(3574-3576)aGc>aTc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						71	70	71					19																	38959963		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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.chr19:38959963G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3575G>T	19.37:g.38959963G>T	ENSP00000352608:p.Ser1192Ile		Somatic				RYR1_uc002oiu.3_Missense_Mutation_p.S1192I	p.S1192I	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3705	+	all_cancers(60;7.91e-06)		1192			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3575G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	9.502	1.103431	0.20632	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70986	-0.53;-0.53;-0.53	3.63	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.236375	0.28853	U	0.013934	D	0.87565	0.6209	H	0.95539	3.685	0.35819	D	0.82446	D;D	0.89917	0.993;1.0	P;D	0.83275	0.899;0.996	D	0.92881	0.6323	10	0.87932	D	0	.	12.332	0.55046	0.0:0.1718:0.8282:0.0	.	1192;1192	P21817-2;P21817	.;RYR1_HUMAN	I	1192	ENSP00000352608:S1192I;ENSP00000347667:S1192I;ENSP00000354254:S1192I	ENSP00000347667:S1192I	S	+	2	0	RYR1	43651803	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.220000	0.51207	1.900000	0.55004	0.434000	0.28630	AGC		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	34	0	0	0	1	0	22	34					T	38959963	G	T	38959963	3	4	40	1	0	0	0	0	1	0	0	0	13768	971	34	4	3681	4	RYR1	19	38959963	Missense_Mutation	SNP	G	TCGA-BJ-A45K-01A-11D-A23U-08		38959963	20169020	9	821											
FAM116B	414918	broad.mit.edu	37	22	50755725	50755725	+	Silent	SNP	C	C	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr22:50755725C>T	ENST00000413817.3	-	5	521	c.450G>A	c.(448-450)caG>caA	p.Q150Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	150					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGCGCACCTTCTGGAAGTAGC	0.637																																						uc011arv.1																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(448-450)caG>caA		Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.							48	55	53					22																	50755725		2080	4223	6303	SO:0001819	synonymous_variant	414918							g.chr22:50755725C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.450G>A	22.37:g.50755725C>T			Somatic					p.Q150Q	NM_001001794	NP_001001794	WXS	Illumina GAIIx	Phase_I	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	522	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	150					A6X8I5	Silent	SNP	ENST00000413817.3	37	c.450G>A	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	4.307	0.056165	0.08291	.	.	ENSG00000205593	ENST00000433760	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	T	0.72045	0.3412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71307	-0.4632	4	.	.	.	-31.3506	16.7848	0.85571	0.0:1.0:0.0:0.0	.	.	.	.	K	122	.	.	R	-	2	0	FAM116B	49098297	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	3.448000	0.52943	2.504000	0.84457	0.305000	0.20034	AGA		0.637	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		14	18	0	0	0	1	0	14	18					T	50755725	C	T	50755725	2	4	40	1	0	0	0	0	0	0	0	1	5408	912	32	2		2	FAM116B	22	50755725	Silent	SNP	C	TCGA-BJ-A45K-01A-11D-A23U-08		50755725	548841	10	822											
PDK3	5165	broad.mit.edu	37	X	24517018	24517019	+	Splice_Site	INS	-	-	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chrX:24517018_24517019insT	ENST00000379162.4	+	3	555		c.e3+1		PDK3_ENST00000441463.2_Splice_Site|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTGGATAAGTAAGTATGGTA	0.317																																						uc004dbh.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e3+1		Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24517018_24517019insT	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.320+1->T	X.37:g.24517019_24517019dupT			Somatic				PDK3_uc004dbg.3_Splice_Site_p.N107_splice	p.N107_splice	NM_001142386	NP_001135858	WXS	Illumina GAIIx	Phase_I	Q15120	PDK3_HUMAN			3	549	+			107					B4DXG6	Splice_Site	INS	ENST00000379162.4	37	c.320_splice	CCDS14212.1																																																																																				0.317	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	Intron	3	6						3	6	---	---	---	---	T	24517019	-	T	24517018	8	5	40	1	0	1	1	0	0	0	1	0	11677	1043	36	0	331	0	PDK3	23	24517018	Splice_Site	INS	-	TCGA-BJ-A45K-01A-11D-A23U-08		24517018	130753542	11	823											
KIAA0495	57212	broad.mit.edu	37	1	3662614	3662614	+	RNA	SNP	G	G	A			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr1:3662614G>A	ENST00000452079.1	-	0	1272				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											AGAGACGTGTGGCCCACAGCG	0.652																																						uc001akt.4																			0													Homo sapiens TP73 antisense RNA 1 (non-protein coding) (TP73-AS1), transcript variant 5, non-coding RNA.							109	122	117					1																	3662614		2197	4285	6482			57212							g.chr1:3662614G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"Long non-coding RNAs"	29052	non-coding RNA	RNA, long non-coding	"p53-dependent apoptosis modulator"		"KIAA0495"	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662614G>A			Somatic				TP73-AS1_uc021ofj.1_Non-coding_Transcript|TP73-AS1_uc021ofk.1_Non-coding_Transcript|TP73-AS1_uc021ofl.1_Non-coding_Transcript|TP73-AS1_uc009vlm.3_Non-coding_Transcript				WXS	Illumina GAIIx	Phase_I					1		-									RNA	SNP	ENST00000452079.1	37	c.617C>T																																																																																					0.652	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		9	97	0	0	0	1	0	9	97					A	3662614	G	A	3662614	1	1	41	0	1	0	0	0	0	0	0	0	8180	1348	47	2		2	KIAA0495	1	3662614	RNA	SNP	G	TCGA-BJ-A4O8-01A-11D-A257-08		3662614	245588007	1	824											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	38	0	0	0	1	0	21	38					T	140453136	A	T	140453136	3	4	41	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		140453136	18685527	2	825											
RPL36AL	6166	broad.mit.edu	37	14	50085726	50085726	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr14:50085726A>C	ENST00000298289.6	-	2	256	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V	MGAT2_ENST00000305386.2_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGGCATACAAAGAATCCTTG	0.473																																						uc001wwq.1																			0											c.(97-99)Ttg>Gtg		Homo sapiens ribosomal protein L36a-like (RPL36AL), mRNA.							112	105	108					14																	50085726		2203	4300	6503	SO:0001583	missense	6166				translation	ribosome	structural constituent of ribosome	g.chr14:50085726A>C	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	10346	protein-coding gene	gene with protein product		180469	"ribosomal protein L36a"	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.97T>G	14.37:g.50085726A>C	ENSP00000346012:p.Leu33Val		Somatic				NEMF_uc010anj.1_Intron|RPL36AL_uc021rsq.1_Missense_Mutation_p.L33V|MGAT2_uc001wwr.3_5'Flank	p.L33V	NM_001001	NP_000992	WXS	Illumina GAIIx	Phase_I	Q969Q0	RL36L_HUMAN			1	203	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		33					Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.97T>G	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048671	0.36181	.	.	ENSG00000165502	ENST00000298289	T	0.46451	0.87	4.16	0.956	0.19608	Ribosomal protein, zinc-binding domain (1);	0.000000	0.56097	U	0.000024	T	0.28101	0.0693	.	.	.	0.24266	N	0.995266	B	0.02656	0.0	B	0.10450	0.005	T	0.17531	-1.0366	9	0.40728	T	0.16	-33.4981	8.2999	0.32008	0.2947:0.0:0.7053:0.0	.	33	Q969Q0	RL36L_HUMAN	V	33	ENSP00000346012:L33V	ENSP00000346012:L33V	L	-	1	2	RPL36AL	49155476	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	5.008000	0.63991	0.217000	0.20800	-0.379000	0.06801	TTG		0.473	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2			38	85	0	0	0	1	0	38	85					C	50085726	A	C	50085726	3	2	41	1	0	0	0	0	1	0	0	0	13588	11	1	5	227	5	RPL36AL	14	50085726	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		50085726	57263814	3	826											
MCTP2	55784	broad.mit.edu	37	15	94841744	94841744	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A4O8-01A-11D-A257-08	TCGA-BJ-A4O8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6163b00-1858-4448-a2ae-449c8c5f4d59	de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5	g.chr15:94841744A>G	ENST00000357742.4	+	1	250	c.250A>G	c.(250-252)Act>Gct	p.T84A	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	84					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGTCTGTCCACTGCAGGGAT	0.582																																						uc002btj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(250-252)Act>Gct		Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.							64	65	65					15																	94841744		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841744A>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.250A>G	15.37:g.94841744A>G	ENSP00000350377:p.Thr84Ala		Somatic				MCTP2_uc010urg.1_Missense_Mutation_p.T84A|MCTP2_uc002bti.2_Missense_Mutation_p.T84A|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.T84A|MCTP2_uc002btg.4_Missense_Mutation_p.T84A|MCTP2_uc002bth.4_Missense_Mutation_p.T84A	p.T84A	NM_018349	NP_060819	WXS	Illumina GAIIx	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		0	315	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		84					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.250A>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244746	0.59103	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.70164	-0.46;-0.23;-0.08	5.04	5.04	0.67666	.	0.000000	0.53938	D	0.000043	T	0.51176	0.1659	L	0.29908	0.895	0.43959	D	0.996634	P;P;B;P;P	0.46512	0.802;0.587;0.451;0.702;0.879	B;B;B;B;P	0.45639	0.337;0.225;0.112;0.182;0.488	T	0.50474	-0.8824	10	0.10377	T	0.69	.	5.3539	0.16050	0.7598:0.0:0.0837:0.1566	.	84;84;84;84;84	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	A	84	ENSP00000438521:T84A;ENSP00000395109:T84A;ENSP00000350377:T84A	ENSP00000350377:T84A	T	+	1	0	MCTP2	92642748	0.061000	0.20836	0.818000	0.32626	0.943000	0.58893	1.414000	0.34736	1.906000	0.55180	0.460000	0.39030	ACT		0.582	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		8	98	0	0	0	1	0	8	98					G	94841744	A	G	94841744	3	3	41	1	0	0	0	0	1	0	0	0	9401	159	6	3	252	3	MCTP2	15	94841744	Missense_Mutation	SNP	A	TCGA-BJ-A4O8-01A-11D-A257-08		94841744	7689648	4	827											
PLA2G2A	5320	broad.mit.edu	37	1	20302255	20302255	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:20302255T>C	ENST00000375111.3	-	6	645	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.Y125C|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	125					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTTTTTATTGTAGGTCGTCTT	0.458																																						uc001bcu.3																			0		p.Y125N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(373-375)tAc>tGc		Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), transcript variant 4, mRNA.							172	162	165					1																	20302255		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20302255T>C	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.374A>G	1.37:g.20302255T>C	ENSP00000364252:p.Tyr125Cys		Somatic				PLA2G2A_uc001bcv.3_Missense_Mutation_p.Y125C|PLA2G2A_uc010oda.2_Missense_Mutation_p.Y125C|PLA2G2A_uc010odb.2_Missense_Mutation_p.Y125C	p.Y125C	NM_001161729	NP_001155201	WXS	Illumina GAIIx	Phase_I	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	592	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	125					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.374A>G	CCDS201.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425081	0.43020	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.44881	0.91;0.91	4.9	3.75	0.43078	Phospholipase A2 (3);	0.000000	0.44097	D	0.000486	T	0.71728	0.3374	H	0.96175	3.78	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66436	-0.5924	10	0.87932	D	0	.	8.7455	0.34583	0.0:0.0:0.1919:0.8081	.	125	P14555	PA2GA_HUMAN	C	125	ENSP00000383364:Y125C;ENSP00000364252:Y125C	ENSP00000364252:Y125C	Y	-	2	0	PLA2G2A	20174842	0.727000	0.28069	0.032000	0.17829	0.004000	0.04260	1.474000	0.35398	0.970000	0.38263	0.460000	0.39030	TAC		0.458	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		41	42	0	0	0	1	0	41	42					C	20302255	T	C	20302255	3	2	42	1	0	0	0	0	1	0	0	0	11995	1638	57	3	64	3	PLA2G2A	1	20302255	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		20302255	228948366	1	828											
OBSCN	84033	broad.mit.edu	37	1	228506696	228506696	+	Missense_Mutation	SNP	G	G	T	rs377346099		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr1:228506696G>T	ENST00000422127.1	+	54	14287	c.14243G>T	c.(14242-14244)cGc>cTc	p.R4748L	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2382L|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1867L|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5705L|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4748L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4748					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)				CGGAAACGTCGCATGAGCCGT	0.682																																						uc009xez.1																			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.(14242-14244)cGc>cTc		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							18	22	20					1																	228506696		2195	4282	6477	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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228506696G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14243G>T	1.37:g.228506696G>T	ENSP00000409493:p.Arg4748Leu		Somatic				OBSCN_uc001hsn.3_Missense_Mutation_p.R4748L	p.R4748L	NM_001098623	NP_001092093	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			53	14287	+		Prostate(94;0.0405)	4748					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.14243G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769674	0.90020	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.71579	-0.18;-0.58;-0.51;0.0	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000006	T	0.72301	0.3443	L	0.34521	1.04	0.49687	D	0.999816	D;D	0.63880	0.989;0.993	P;P	0.58577	0.698;0.841	T	0.70270	-0.4918	10	0.27082	T	0.32	.	16.3454	0.83126	0.0:0.0:1.0:0.0	.	4748;4748	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	4748;4748;2382;1867	ENSP00000284548:R4748L;ENSP00000409493:R4748L;ENSP00000355668:R2382L;ENSP00000355670:R1867L	ENSP00000284548:R4748L	R	+	2	0	OBSCN	226573319	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.500000	0.97977	2.085000	0.62840	0.313000	0.20887	CGC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	1	0	0	0	1	0	5	1					T	228506696	G	T	228506696	3	4	42	1	0	0	0	0	1	0	0	0	10812	1087	38	4	14453	4	OBSCN	1	228506696	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	208204441	228506696	20743925	2	829											
ERBB4	2066	broad.mit.edu	37	2	212251745	212251745	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr2:212251745G>C	ENST00000342788.4	-	27	3624	c.3314C>G	c.(3313-3315)tCc>tGc	p.S1105C	ERBB4_ENST00000402597.1_Missense_Mutation_p.S1095C|ERBB4_ENST00000436443.1_Missense_Mutation_p.S1089C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1105					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)	ATTACAGCAGGAGTCATCAAA	0.557										TSP Lung(8;0.080)																												uc002veg.1																			0		p.D1104Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3313-3315)tCc>tGc		Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.							130	119	123					2																	212251745		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251745G>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3314C>G	2.37:g.212251745G>C	ENSP00000342235:p.Ser1105Cys	TSP Lung(8;0.080)	Somatic				ERBB4_uc002veh.1_Missense_Mutation_p.S1089C|ERBB4_uc010zji.1_Missense_Mutation_p.S1095C|ERBB4_uc010zjj.1_Missense_Mutation_p.S1079C	p.S1105C	NM_005235	NP_005226	WXS	Illumina GAIIx	Phase_I	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)	26	3412	-		Renal(323;0.06)|Lung NSC(271;0.197)	1105					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3314C>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643337	0.47153	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75477	-0.94;-0.94;-0.94	5.73	5.73	0.89815	.	0.594998	0.18186	N	0.148996	T	0.72598	0.3480	L	0.29908	0.895	0.27079	N	0.963142	B;B;B;B	0.33512	0.415;0.346;0.415;0.291	B;P;B;B	0.45474	0.163;0.482;0.163;0.125	T	0.69390	-0.5158	10	0.56958	D	0.05	.	13.1437	0.59448	0.0729:0.0:0.9271:0.0	.	1079;1095;1089;1105	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	C	1105;1089;1095	ENSP00000342235:S1105C;ENSP00000403204:S1089C;ENSP00000385565:S1095C	ENSP00000342235:S1105C	S	-	2	0	ERBB4	211959990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.198000	0.42705	2.707000	0.92482	0.561000	0.74099	TCC		0.557	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		37	54	0	0	0	1	0	37	54					C	212251745	G	C	212251745	3	2	42	1	0	0	0	0	1	0	0	0	5209	1174	41	4	620	4	ERBB4	2	212251745	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		212251745	30947628	3	830											
APPL1	26060	broad.mit.edu	37	3	57282228	57282228	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:57282228A>G	ENST00000288266.3	+	10	859	c.712A>G	c.(712-714)Agg>Ggg	p.R238G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	238	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGTGTTCGCAGGGAAATGGA	0.408																																						uc003dio.3																			0		p.R237C(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(712-714)Agg>Ggg		Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.							114	105	108					3																	57282228		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57282228A>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.712A>G	3.37:g.57282228A>G	ENSP00000288266:p.Arg238Gly		Somatic				APPL1_uc010hnb.3_Missense_Mutation_p.R238G|APPL1_uc011bey.1_Missense_Mutation_p.R221G	p.R238G	NM_012096	NP_036228	WXS	Illumina GAIIx	Phase_I	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	9	859	+			238			Required for RAB5A binding.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.712A>G	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830037	0.32329	.	.	ENSG00000157500	ENST00000288266	T	0.04654	3.58	6.06	6.06	0.98353	.	0.137575	0.64402	D	0.000006	T	0.05914	0.0154	L	0.38838	1.175	0.48236	D	0.999613	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43048	-0.9415	10	0.22109	T	0.4	-6.4887	16.6245	0.84952	1.0:0.0:0.0:0.0	.	221;238	B4DQX8;Q9UKG1	.;DP13A_HUMAN	G	238	ENSP00000288266:R238G	ENSP00000288266:R238G	R	+	1	2	APPL1	57257268	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.884000	0.63135	2.323000	0.78572	0.528000	0.53228	AGG		0.408	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		6	67	0	0	0	1	0	6	67					G	57282228	A	G	57282228	3	3	42	1	0	0	0	0	1	0	0	0	817	179	7	3	750	3	APPL1	3	57282228	Missense_Mutation	SNP	A	TCGA-BJ-A4O9-01A-11D-A257-08		57282228	140740202	4	831											
PDIA5	10954	broad.mit.edu	37	3	122808075	122808075	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr3:122808075G>A	ENST00000316218.7	+	2	198	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	35					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)		GAGAATCTCTGACCCCAAGGA	0.512																																						uc003egc.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(103-105)Gac>Aac		Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.							121	117	119					3																	122808075		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.chr3:122808075G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.103G>A	3.37:g.122808075G>A	ENSP00000323313:p.Asp35Asn		Somatic				PDIA5_uc003egd.2_Non-coding_Transcript	p.D35N	NM_006810	NP_006801	WXS	Illumina GAIIx	Phase_I	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	1	259	+			35					D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.103G>A	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501352	0.44455	.	.	ENSG00000065485	ENST00000316218	T	0.05580	3.42	5.13	4.25	0.50352	Thioredoxin-like fold (1);	0.097336	0.64402	D	0.000001	T	0.12135	0.0295	L	0.50333	1.59	0.48135	D	0.999599	D	0.61080	0.989	P	0.55749	0.783	T	0.11891	-1.0569	10	0.26408	T	0.33	.	9.6741	0.40030	0.094:0.0:0.906:0.0	.	35	Q14554	PDIA5_HUMAN	N	35	ENSP00000323313:D35N	ENSP00000323313:D35N	D	+	1	0	PDIA5	124290765	1.000000	0.71417	0.970000	0.41538	0.089000	0.18198	7.299000	0.78831	1.535000	0.49220	-0.136000	0.14681	GAC		0.512	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		36	54	0	0	0	1	0	36	54					A	122808075	G	A	122808075	3	1	42	1	0	0	0	0	1	0	0	0	11671	1290	45	2	109	2	PDIA5	3	122808075	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	65525847	122808075	75214355	5	832											
MBLAC1	255374	broad.mit.edu	37	7	99725100	99725100	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:99725100T>C	ENST00000398075.2	+	2	481	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	28							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GCTGCAGGGCTACGCGGAGCC	0.726																																						uc003utp.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(82-84)Tac>Cac		Homo sapiens metallo-beta-lactamase domain containing 1 (MBLAC1), mRNA.							11	13	12					7																	99725100		2041	4167	6208	SO:0001583	missense	255374						hydrolase activity|metal ion binding	g.chr7:99725100T>C	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.82T>C	7.37:g.99725100T>C	ENSP00000381150:p.Tyr28His		Somatic				MBLAC1_uc022aig.1_Missense_Mutation_p.Y28H	p.Y28H	NM_203397	NP_981942	WXS	Illumina GAIIx	Phase_I	A4D2B0	MBLC1_HUMAN			1	478	+			28					Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	c.82T>C	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458899	0.84317	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	T;T	0.60920	0.9;0.15	4.41	4.41	0.53225	.	0.000000	0.52532	U	0.000078	T	0.62612	0.2442	L	0.29908	0.895	0.38421	D	0.94617	D	0.71674	0.998	D	0.77557	0.99	T	0.68112	-0.5495	10	0.87932	D	0	.	10.2222	0.43203	0.0:0.0:0.0:1.0	.	28	A4D2B0	MBLC1_HUMAN	H	28	ENSP00000381150:Y28H;ENSP00000406055:Y28H	ENSP00000381150:Y28H	Y	+	1	0	MBLAC1	99563036	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.664000	0.54525	1.994000	0.58287	0.459000	0.35465	TAC		0.726	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1	NM_203397		3	9	0	0	0	1	0	3	9					C	99725100	T	C	99725100	3	2	42	1	0	0	0	0	1	0	0	0	9351	1522	53	3	84	3	MBLAC1	7	99725100	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		99725100	59413563	6	833											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	31	0	0	0	1	0	30	31					T	140453136	A	T	140453136	3	4	42	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-BJ-A4O9-01A-11D-A257-08	40728036	140453136	18685527	7	834											
RAD23B	5887	broad.mit.edu	37	9	110074019	110074019	+	Splice_Site	SNP	G	G	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr9:110074019G>T	ENST00000358015.3	+	5	904		c.e5+1		RAD23B_ENST00000416373.2_Splice_Site	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)						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						AGTGCACTTGGTAAGTATCTG	0.308								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.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.e5+1	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.							72	72	72					9																	110074019		2203	4298	6501	SO:0001630	splice_region_variant	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	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110074019G>T		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.553+1G>T	9.37:g.110074019G>T			Somatic				RAD23B_uc011lwa.2_Splice_Site_p.V185_splice|RAD23B_uc022blj.1_Splice_Site_p.V113_splice|RAD23B_uc011lwb.2_Splice_Site_p.V164_splice	p.V185_splice	NM_002874	NP_002865	WXS	Illumina GAIIx	Phase_I	P54727	RD23B_HUMAN			5	947	+			185					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Splice_Site	SNP	ENST00000358015.3	37	c.553_splice	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950116	0.73787	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373;ENST00000457811	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8548	0.92247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD23B	109113840	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.786000	0.75094	2.520000	0.84964	0.650000	0.86243	.		0.308	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	Intron	15	19	0	0	0	1	0	15	19					T	110074019	G	T	110074019	5	4	42	1	0	0	0	0	0	0	1	0	12983	1275	44	4	572	4	RAD23B	9	110074019	Splice_Site	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		110074019	31139412	8	835											
C2CD3	26005	broad.mit.edu	37	11	73834059	73834059	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr11:73834059G>C	ENST00000334126.7	-	8	1565	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	C2CD3_ENST00000313663.7_Missense_Mutation_p.L447V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	447					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAATTCTCCAGAAGACTCTGG	0.428																																						uc001ouu.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1339-1341)Ctg>Gtg		Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.							66	68	67					11																	73834059		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73834059G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1339C>G	11.37:g.73834059G>C	ENSP00000334379:p.Leu447Val		Somatic				C2CD3_uc001ouv.2_Missense_Mutation_p.L447V	p.L447V	NM_015531	NP_056346	WXS	Illumina GAIIx	Phase_I	Q4AC94	C2CD3_HUMAN			7	1566	-	Breast(11;4.16e-06)		447					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1339C>G		.	.	.	.	.	.	.	.	.	.	G	15.15	2.748616	0.49257	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.33216	1.42;1.54	5.52	1.62	0.23740	.	0.000000	0.64402	D	0.000003	T	0.48926	0.1527	M	0.68952	2.095	0.30119	N	0.805861	D;D	0.89917	1.0;0.998	D;D	0.83275	0.994;0.996	T	0.50224	-0.8853	10	0.87932	D	0	-0.214	9.6512	0.39899	0.344:0.0:0.656:0.0	.	447;447	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	447	ENSP00000334379:L447V;ENSP00000323339:L447V	ENSP00000323339:L447V	L	-	1	2	C2CD3	73511707	0.998000	0.40836	0.998000	0.56505	0.635000	0.38103	2.494000	0.45329	0.047000	0.15862	-0.258000	0.10820	CTG		0.428	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		25	30	0	0	0	1	0	25	30					C	73834059	G	C	73834059	3	2	42	1	0	0	0	0	1	0	0	0	2154	933	33	4	4648	4	C2CD3	11	73834059	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		73834059	61172457	9	836											
OR6C75	390323	broad.mit.edu	37	12	55759422	55759422	+	Silent	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:55759422C>T	ENST00000343399.3	+	1	528	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	176						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						ATCATTTTATCTGTGACTCTT	0.428																																						uc010spk.2																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(526-528)atC>atT		Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.							168	145	152					12																	55759422		2203	4300	6503	SO:0001819	synonymous_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759422C>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.528C>T	12.37:g.55759422C>T			Somatic					p.I176I	NM_001005497	NP_001005497	WXS	Illumina GAIIx	Phase_I	A6NL08	O6C75_HUMAN			0	528	+			176						Silent	SNP	ENST00000343399.3	37	c.528C>T	CCDS31820.1																																																																																				0.428	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			22	35	0	0	0	1	0	22	35					T	55759422	C	T	55759422	2	4	42	1	0	0	0	0	0	0	0	1	11199	903	32	2		2	OR6C75	12	55759422	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		55759422	78092473	10	837											
TRHDE	29953	broad.mit.edu	37	12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr12:72956810C>T	ENST00000261180.4	+	9	1993	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	633					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1897-1899)Cag>Tag		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							74	80	78					12																	72956810		2203	4292	6495	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956810C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1897C>T	12.37:g.72956810C>T	ENSP00000261180:p.Gln633*		Somatic					p.Q633*	NM_013381	NP_037513	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			8	1927	+			633					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1897C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992750	0.97179	.	.	ENSG00000072657	ENST00000261180	.	.	.	6.17	5.27	0.74061	.	1.137960	0.06297	N	0.700240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.3126	0.37915	0.1174:0.6239:0.2588:0.0	.	.	.	.	X	633	.	ENSP00000261180:Q633X	Q	+	1	0	TRHDE	71243077	0.967000	0.33354	0.977000	0.42913	0.498000	0.33706	1.145000	0.31577	2.941000	0.99782	0.655000	0.94253	CAG		0.274	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		33	58	0	0	0	1	0	33	58					T	72956810	C	T	72956810	4	4	42	1	0	0	0	0	0	1	0	0	16476	827	29	2	1931	2	TRHDE	12	72956810	Nonsense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	17197388	72956810	60895085	11	838											
DPF3	8110	broad.mit.edu	37	14	73220067	73220067	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73220067C>T	ENST00000556509.1	-	3	205	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DPF3_ENST00000541685.1_Missense_Mutation_p.G69D|DPF3_ENST00000546183.1_Missense_Mutation_p.G79D	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	69					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)		ATACAGCTGGCCCGGGGCAAG	0.542																																						uc001xnc.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(205-207)gGc>gAc		Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.							38	37	37					14																	73220067		1871	4110	5981	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73220067C>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.206G>A	14.37:g.73220067C>T	ENSP00000450518:p.Gly69Asp		Somatic				DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.G69D|DPF3_uc010ttq.1_Missense_Mutation_p.G79D	p.G69D	NM_012074	NP_036206	WXS	Illumina GAIIx	Phase_I	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	2	219	-			69					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.206G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.601567	0.87055	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91521	-2.86;-0.39;-0.41	5.58	5.58	0.84498	.	.	.	.	.	D	0.94840	0.8333	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.95102	0.8231	9	0.87932	D	0	.	16.4812	0.84158	0.0:1.0:0.0:0.0	.	79;69;69	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	D	69;69;68;69;79	ENSP00000450518:G69D;ENSP00000441640:G69D;ENSP00000444662:G79D	ENSP00000381791:G124D	G	-	2	0	DPF3	72289820	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.726000	0.68515	2.633000	0.89246	0.561000	0.74099	GGC		0.542	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			3	21	0	0	0	1	0	3	21					T	73220067	C	T	73220067	3	4	42	1	0	0	0	0	1	0	0	0	4718	739	26	2	895	2	DPF3	14	73220067	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		73220067	34129473	12	839											
ZFYVE1	53349	broad.mit.edu	37	14	73491207	73491207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:73491207G>A	ENST00000556143.1	-	2	730	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.Q4*|ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.Q4*	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	4					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGGGAAGTCTGGGCACTCATA	0.527																																						uc001xnm.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(10-12)Cag>Tag		Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.							47	41	43					14																	73491207		2203	4300	6503	SO:0001587	stop_gained	53349					Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491207G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.10C>T	14.37:g.73491207G>A	ENSP00000450742:p.Gln4*		Somatic				ZFYVE1_uc010arj.3_Nonsense_Mutation_p.Q4*	p.Q4*	NM_021260	NP_067083	WXS	Illumina GAIIx	Phase_I	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	1	731	-		all_lung(585;1.33e-09)	4					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Nonsense_Mutation	SNP	ENST00000556143.1	37	c.10C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	41	9.009203	0.99035	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	.	.	.	5.66	5.66	0.87406	.	0.259562	0.39083	N	0.001477	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.9302	19.8043	0.96521	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000326921:Q4X	Q	-	1	0	ZFYVE1	72560960	1.000000	0.71417	0.997000	0.53966	0.599000	0.36880	9.023000	0.93683	2.695000	0.91970	0.585000	0.79938	CAG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		5	33	0	0	0	1	0	5	33					A	73491207	G	A	73491207	4	1	42	1	0	0	0	0	0	1	0	0	17660	1357	47	2	2367	2	ZFYVE1	14	73491207	Nonsense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	271140	73491207	33858333	13	840											
AKT1	207	broad.mit.edu	37	14	105242025	105242025	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr14:105242025C>G	ENST00000554581.1	-	4	1879	c.399G>C	c.(397-399)gaG>gaC	p.E133D	AKT1_ENST00000349310.3_Missense_Mutation_p.E133D|AKT1_ENST00000402615.2_Missense_Mutation_p.E133D|AKT1_ENST00000554848.1_Missense_Mutation_p.E133D|AKT1_ENST00000407796.2_Missense_Mutation_p.E133D|AKT1_ENST00000555528.1_Missense_Mutation_p.E133D|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.E71D|AKT1_ENST00000554585.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	133					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	ACACCTCCATCTCTTCAGCCC	0.647		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	uc001ypk.3		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(397-399)gaG>gaC		Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						136	102	114					14																	105242025		2203	4300	6503	SO:0001583	missense	207				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242025C>G	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.399G>C	14.37:g.105242025C>G	ENSP00000451828:p.Glu133Asp		Somatic				AKT1_uc001ypl.3_Missense_Mutation_p.E133D|AKT1_uc010axa.3_Missense_Mutation_p.E133D|AKT1_uc001ypm.3_Missense_Mutation_p.E133D|AKT1_uc001ypn.3_Missense_Mutation_p.E133D|AKT1_uc010tyk.2_Missense_Mutation_p.E71D	p.E133D	NM_005163	NP_005154	WXS	Illumina GAIIx	Phase_I	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	953	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	133					B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.399G>C	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745688	0.30955	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	3.9	3.9	0.45041	.	0.060573	0.64402	D	0.000005	T	0.21509	0.0518	N	0.08118	0	0.44635	D	0.997619	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	10	0.18276	T	0.48	.	4.7077	0.12858	0.0:0.707:0.0:0.293	.	133	P31749	AKT1_HUMAN	D	133;133;133;133;133;71;133;71	ENSP00000451828:E133D;ENSP00000384293:E133D;ENSP00000270202:E133D;ENSP00000385326:E133D;ENSP00000450688:E133D;ENSP00000443897:E71D;ENSP00000451166:E133D;ENSP00000451290:E71D	ENSP00000270202:E133D	E	-	3	2	AKT1	104313070	0.967000	0.33354	1.000000	0.80357	0.937000	0.57800	-0.044000	0.12023	2.001000	0.58596	0.448000	0.29417	GAG		0.647	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		22	24	0	0	0	1	0	22	24					G	105242025	C	G	105242025	3	3	42	1	0	0	0	0	1	0	0	0	478	912	32	4	1083	4	AKT1	14	105242025	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	31750818	105242025	2107515	14	841											
RAB27A	5873	broad.mit.edu	37	15	55497815	55497815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:55497815C>A	ENST00000396307.2	-	6	807	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	RAB27A_ENST00000569493.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000564609.1_Nonsense_Mutation_p.E186*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.E186*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	186					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACACACCGTTCCATTCGCTTC	0.468																																						uc002acr.3																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(556-558)Gaa>Taa		Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 3, mRNA.							354	283	307					15																	55497815		2193	4292	6485	SO:0001587	stop_gained	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497815C>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.556G>T	15.37:g.55497815C>A	ENSP00000379601:p.Glu186*		Somatic				RAB27A_uc002aco.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acp.3_Nonsense_Mutation_p.E186*|RAB27A_uc002acq.3_Nonsense_Mutation_p.E186*	p.E186*	NM_183235	NP_899059	WXS	Illumina GAIIx	Phase_I	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	798	-			186					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Nonsense_Mutation	SNP	ENST00000396307.2	37	c.556G>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807351	0.90623	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	.	.	.	5.49	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.3418	15.4401	0.75176	0.0:0.8608:0.1392:0.0	.	.	.	.	X	186;178;186	.	ENSP00000337761:E186X	E	-	1	0	RAB27A	53285107	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.996000	0.70639	1.300000	0.44818	0.655000	0.94253	GAA		0.468	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		62	83	0	0	0	1	0	62	83					A	55497815	C	A	55497815	4	1	42	1	0	0	0	0	0	1	0	0	12914	864	30	4	113	4	RAB27A	15	55497815	Nonsense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		55497815	47033577	15	842											
MPI	4351	broad.mit.edu	37	15	75182420	75182420	+	Silent	SNP	C	C	T	rs149477499		TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr15:75182420C>T	ENST00000352410.4	+	1	73	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MPI_ENST00000565576.1_Silent_p.A2A|MPI_ENST00000566377.1_Silent_p.A2A|MPI_ENST00000564003.1_5'UTR|MPI_ENST00000563786.1_5'UTR|MPI_ENST00000323744.6_Silent_p.A2A|MPI_ENST00000563422.1_Silent_p.A2A|MPI_ENST00000535694.1_5'UTR|MPI_ENST00000562606.1_5'UTR			P34949	MPI_HUMAN	mannose phosphate isomerase	2					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CGAGCATGGCCGCTCCGCGAG	0.662																																						uc002azc.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)gcC>gcT		Homo sapiens mannose phosphate isomerase (MPI), mRNA.		C		1,4393		0,1,2196	41	44	43		6	-8.6	0.0	15	dbSNP_134	43	0,8588		0,0,4294	no	coding-synonymous	MPI	NM_002435.1		0,1,6490	TT,TC,CC		0.0,0.0228,0.0077		2/424	75182420	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	4351				GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75182420C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.6C>T	15.37:g.75182420C>T			Somatic				MPI_uc010ulv.2_Silent_p.A2A|MPI_uc010ulw.2_5'UTR|MPI_uc002azd.1_Silent_p.A2A|MPI_uc010ulx.1_5'UTR|MPI_uc002aze.1_Silent_p.A2A	p.A2A	NM_002435	NP_002426	WXS	Illumina GAIIx	Phase_I	P34949	MPI_HUMAN			0	11	+			2					A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	c.6C>T	CCDS10272.1																																																																																				0.662	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			15	23	0	0	0	1	0	15	23					T	75182420	C	T	75182420	2	4	42	1	0	0	0	0	0	0	0	1	9729	639	23	1		1	MPI	15	75182420	Silent	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08	19684605	75182420	27348972	16	843											
MLYCD	23417	broad.mit.edu	37	16	83948837	83948837	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr16:83948837G>C	ENST00000262430.4	+	5	1244	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	RP11-505K9.4_ENST00000566309.1_Intron|RP11-505K9.4_ENST00000561562.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	409	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTGTATGGAGAGAAGCACCG	0.647																																						uc002fgz.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1225-1227)Gag>Cag		Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.							51	58	56					16																	83948837		2120	4236	6356	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948837G>C	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1225G>C	16.37:g.83948837G>C	ENSP00000262430:p.Glu409Gln		Somatic					p.E409Q	NM_012213	NP_036345	WXS	Illumina GAIIx	Phase_I	O95822	DCMC_HUMAN			4	1245	+			409					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.1225G>C	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550272	0.86127	.	.	ENSG00000103150	ENST00000262430	D	0.91740	-2.9	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98124	1.0427	10	0.72032	D	0.01	-41.3279	17.2055	0.86916	0.0:0.0:1.0:0.0	.	409	O95822	DCMC_HUMAN	Q	409	ENSP00000262430:E409Q	ENSP00000262430:E409Q	E	+	1	0	MLYCD	82506338	1.000000	0.71417	0.942000	0.38095	0.824000	0.46624	7.419000	0.80179	2.387000	0.81309	0.511000	0.50034	GAG		0.647	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		45	44	0	0	0	1	0	45	44					C	83948837	G	C	83948837	3	2	42	1	0	0	0	0	1	0	0	0	9638	943	33	4	1243	4	MLYCD	16	83948837	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		83948837	6405916	17	844											
ARID3A	1820	broad.mit.edu	37	19	929821	929821	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:929821C>T	ENST00000263620.3	+	2	620	c.293C>T	c.(292-294)aCa>aTa	p.T98I	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	98	Glu-rich.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CGGGAGGGGACACCGGGCTCA	0.721																																					Pancreas(29;54 1022 32760 50921)	uc002lql.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(292-294)aCa>aTa		Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.							10	15	13					19																	929821		1986	3955	5941	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:929821C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.293C>T	19.37:g.929821C>T	ENSP00000263620:p.Thr98Ile		Somatic					p.T98I	NM_005224	NP_005215	WXS	Illumina GAIIx	Phase_I	Q99856	ARI3A_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)	1	583	+		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)	98			Glu-rich.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.293C>T	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651000	0.29336	.	.	ENSG00000116017	ENST00000263620	T	0.38560	1.13	3.33	1.11	0.20524	.	4.873430	0.01066	N	0.004720	T	0.28830	0.0715	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14062	-1.0486	10	0.39692	T	0.17	-5.1549	3.9578	0.09398	0.4169:0.4618:0.0:0.1213	.	98	Q99856	ARI3A_HUMAN	I	98	ENSP00000263620:T98I	ENSP00000263620:T98I	T	+	2	0	ARID3A	880821	.	.	0.001000	0.08648	0.030000	0.12068	.	.	0.135000	0.18707	-0.339000	0.08088	ACA		0.721	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		2	0	0	0	0	1	0	2	0					T	929821	C	T	929821	3	4	42	1	0	0	0	0	1	0	0	0	916	478	17	2	295	2	ARID3A	19	929821	Missense_Mutation	SNP	C	TCGA-BJ-A4O9-01A-11D-A257-08		929821	58199162	18	845											
HSH2D	84941	broad.mit.edu	37	19	16268601	16268601	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:16268601G>A	ENST00000253680.6	+	9	1586	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	HSH2D_ENST00000397372.4_Missense_Mutation_p.C262Y|HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000593154.2_3'UTR			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	352					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCTGGGTACTGCTAGAGAACA	0.612																																						uc002ndp.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(1054-1056)tGc>tAc		Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.							21	25	24					19																	16268601		1951	4146	6097	SO:0001583	missense	84941					cytoplasm|nucleus		g.chr19:16268601G>A	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.1055G>A	19.37:g.16268601G>A	ENSP00000253680:p.Cys352Tyr		Somatic				HSH2D_uc002ndr.3_3'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	p.C352Y	NM_032855	NP_116244	WXS	Illumina GAIIx	Phase_I	Q96JZ2	HSH2D_HUMAN			8	1586	+			352					B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37	c.1055G>A		.	.	.	.	.	.	.	.	.	.	G	12.42	1.932920	0.34096	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.58358	0.34	3.5	2.4	0.29515	.	0.000000	0.34580	N	0.003848	T	0.61085	0.2319	.	.	.	0.27857	N	0.940535	D	0.62365	0.991	P	0.58577	0.841	T	0.55121	-0.8190	9	0.87932	D	0	.	7.866	0.29537	0.0:0.0:0.7533:0.2467	.	352	Q96JZ2	HSH2D_HUMAN	Y	262;352	ENSP00000253680:C352Y	ENSP00000253680:C352Y	C	+	2	0	HSH2D	16129601	1.000000	0.71417	0.996000	0.52242	0.303000	0.27691	1.763000	0.38461	0.982000	0.38575	0.462000	0.41574	TGC		0.612	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		7	4	0	0	0	1	0	7	4					A	16268601	G	A	16268601	3	1	42	1	0	0	0	0	1	0	0	0	7400	1306	46	2	1074	2	HSH2D	19	16268601	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	15338780	16268601	42860382	19	846											
SHANK1	50944	broad.mit.edu	37	19	51207039	51207039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr19:51207039delG	ENST00000293441.1	-	10	1289	c.1271delC	c.(1270-1272)ccafs	p.P424fs	SHANK1_ENST00000391814.1_Frame_Shift_Del_p.P424fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.P424fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	424					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)		CCCTGTGCCTGGGGGCCCCCG	0.721																																						uc002psx.1																			0		p.P424fs*5(1)		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.(1270-1272)ccafs		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							2	3	3					19																	51207039		1490	3219	4709	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51207039delG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1271delC	19.37:g.51207039delG	ENSP00000293441:p.Pro424fs		Somatic					p.P424fs	NM_016148	NP_057232	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	9	1290	-		all_neural(266;0.057)	424					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.1271delC	CCDS12799.1																																																																																				0.721	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---	-	51207039	G	-	51207039	7	5	42	1	0	1	0	1	0	0	0	0	14264	1348	47	0	5270	0	SHANK1	19	51207039	Frame_Shift_Del	DEL	G	TCGA-BJ-A4O9-01A-11D-A257-08	34938438	51207039	7921944	20	847											
CHD6	84181	broad.mit.edu	37	20	40033972	40033972	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chr20:40033972T>C	ENST00000373233.3	-	37	7586	c.7409A>G	c.(7408-7410)aAt>aGt	p.N2470S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2470					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATCAGTCCATTCATGAACAG	0.607																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7408-7410)aAt>aGt		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							72	69	70					20																	40033972		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	g.chr20:40033972T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7409A>G	20.37:g.40033972T>C	ENSP00000362330:p.Asn2470Ser		Somatic				CHD6_uc002xjz.1_Missense_Mutation_p.N7S	p.N2470S	NM_032221	NP_115597	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			36	7587	-		Myeloproliferative disorder(115;0.00425)	2470					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7409A>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636731	0.67130	.	.	ENSG00000124177	ENST00000373233	D	0.93307	-3.2	5.65	5.65	0.86999	.	0.179093	0.39759	N	0.001273	D	0.93874	0.8040	M	0.74647	2.275	0.80722	D	1	D	0.62365	0.991	P	0.46659	0.523	D	0.94516	0.7723	10	0.72032	D	0.01	-28.0061	16.0399	0.80667	0.0:0.0:0.0:1.0	.	2470	Q8TD26	CHD6_HUMAN	S	2470	ENSP00000362330:N2470S	ENSP00000362330:N2470S	N	-	2	0	CHD6	39467386	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.019000	0.70818	2.371000	0.80710	0.533000	0.62120	AAT		0.607	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			29	28	0	0	0	1	0	29	28					C	40033972	T	C	40033972	3	2	42	1	0	0	0	0	1	0	0	0	3329	1493	52	3	742	3	CHD6	20	40033972	Missense_Mutation	SNP	T	TCGA-BJ-A4O9-01A-11D-A257-08		40033972	22991548	21	848											
ZFX	7543	broad.mit.edu	37	X	24226355	24226355	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:24226355G>A	ENST00000379177.1	+	9	1388	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ZFX_ENST00000304543.5_Missense_Mutation_p.E321K|ZFX_ENST00000540034.1_Missense_Mutation_p.E360K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.E271K|ZFX_ENST00000379188.3_Missense_Mutation_p.E321K|ZFX_ENST00000539115.1_Missense_Mutation_p.E92K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	321					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AATCGCTGACGAAGTTTATAT	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	uc011mjv.2																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1078-1080)Gaa>Aaa		Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.							53	52	52					X																	24226355		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24226355G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.961G>A	X.37:g.24226355G>A	ENSP00000368475:p.Glu321Lys		Somatic				ZFX_uc004dbd.2_Missense_Mutation_p.E321K|ZFX_uc004dbf.3_Missense_Mutation_p.E321K|ZFX_uc004dbe.3_Missense_Mutation_p.E321K|ZFX_uc022bua.1_Missense_Mutation_p.E321K|ZFX_uc010nfx.2_Missense_Mutation_p.E92K|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_Missense_Mutation_p.E24K	p.E360K	NM_001178086	NP_001171557	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			7	1327	+			321					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.1078G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602405	0.87157	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.53	5.53	0.82687	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000002	T	0.66839	0.2830	L	0.58810	1.83	0.80722	D	1	D;B;D;D	0.89917	0.997;0.165;0.996;1.0	P;B;D;D	0.81914	0.887;0.023;0.983;0.995	T	0.67554	-0.5641	10	0.56958	D	0.05	-0.3797	18.7183	0.91684	0.0:0.0:1.0:0.0	.	360;90;321;325	B9EG97;F5GYV7;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	92;321;90;321;321;360;271;116	ENSP00000438233:E92K;ENSP00000368486:E321K;ENSP00000368475:E321K;ENSP00000304985:E321K;ENSP00000441382:E360K;ENSP00000343384:E271K	ENSP00000304985:E321K	E	+	1	0	ZFX	24136276	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.320000	0.79064	2.452000	0.82932	0.600000	0.82982	GAA		0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		27	30	0	0	0	1	0	27	30					A	24226355	G	A	24226355	3	1	42	1	0	0	0	0	1	0	0	0	17658	1059	37	1	979	1	ZFX	23	24226355	Missense_Mutation	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08		24226355	131044205	22	849											
FTHL17	53940	broad.mit.edu	37	X	31089693	31089693	+	Silent	SNP	G	G	A			TCGA-BJ-A4O9-01A-11D-A257-08	TCGA-BJ-A4O9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6d11056-89fb-495c-8ae6-6e87e9502986	cf64593a-6d9e-4cf0-9838-f04c19e0d851	g.chrX:31089693G>A	ENST00000359202.3	-	1	477	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	126	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						GCTGGGGGTCGCCCTTCTCCA	0.607																																						uc004dcl.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(376-378)ggC>ggT		Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.							75	60	65					X																	31089693		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089693G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.378C>T	X.37:g.31089693G>A			Somatic					p.G126G	NM_031894	NP_114100	WXS	Illumina GAIIx	Phase_I	Q9BXU8	FHL17_HUMAN			0	478	-			126			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.378C>T	CCDS14227.1																																																																																				0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		27	40	0	0	0	1	0	27	40					A	31089693	G	A	31089693	2	1	42	1	0	0	0	0	0	0	0	1	6083	1074	38	1		1	FTHL17	23	31089693	Silent	SNP	G	TCGA-BJ-A4O9-01A-11D-A257-08	6863338	31089693	124180867	23	850											
PAPSS1	9061	broad.mit.edu	37	4	108566109	108566109	+	Missense_Mutation	SNP	T	T	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:108566109T>A	ENST00000265174.4	-	10	1627	c.1355A>T	c.(1354-1356)cAc>cTc	p.H452L		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	452					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|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)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		ACCCAGAGGGTGGAGGAGGAG	0.542																																						uc003hyk.3																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1354-1356)cAc>cTc		Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.							102	98	99					4																	108566109		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity	g.chr4:108566109T>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1355A>T	4.37:g.108566109T>A	ENSP00000265174:p.His452Leu		Somatic					p.H452L	NM_005443	NP_005434	WXS	Illumina GAIIx	Phase_I	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	9	1439	-		Hepatocellular(203;0.217)	452					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1355A>T	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710232	0.89018	.	.	ENSG00000138801	ENST00000265174	T	0.33865	1.39	5.22	5.22	0.72569	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	H	0.98818	4.34	0.80722	D	1	D	0.61080	0.989	D	0.68192	0.956	D	0.85959	0.1469	10	0.87932	D	0	-26.6538	15.1269	0.72489	0.0:0.0:0.0:1.0	.	452	O43252	PAPS1_HUMAN	L	452	ENSP00000265174:H452L	ENSP00000265174:H452L	H	-	2	0	PAPSS1	108785558	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.522000	0.81844	1.972000	0.57404	0.377000	0.23210	CAC		0.542	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			12	109	0	0	0	1	0	12	109					A	108566109	T	A	108566109	3	1	43	1	0	0	0	0	1	0	0	0	11434	1696	59	5	531	5	PAPSS1	4	108566109	Missense_Mutation	SNP	T	TCGA-CE-A13K-01A-11D-A10S-08		108566109	82588167	1	851											
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Silent	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:189068316C>T	ENST00000332517.3	+	6	1337	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	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)	p.H399Q(3)		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)		AAGGTCAGCACGTCAGAGAGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			3	Substitution - Missense(3)	p.H399Q(6)	lung(3)	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.(1195-1197)caC>caT		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							153	137	142					4																	189068316		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068316C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1197C>T	4.37:g.189068316C>T			Somatic				TRIML1_uc003izn.1_Silent_p.H123H	p.H399H	NM_178556	NP_848651	WXS	Illumina GAIIx	Phase_I	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)	5	1312	+		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)	399			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1197C>T	CCDS3851.1																																																																																				0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		81	109	0	0	0	1	0	81	109					T	189068316	C	T	189068316	2	4	43	1	0	0	0	0	0	0	0	1	16547	535	19	1		1	TRIML1	4	189068316	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	80502207	189068316	2085960	2	852											
PCDHGA3	56112	broad.mit.edu	37	5	140724389	140724389	+	Silent	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr5:140724389G>A	ENST00000253812.6	+	1	789	c.789G>A	c.(787-789)acG>acA	p.T263T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	263	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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCTCACGGTGAATGCCA	0.478																																						uc003ljm.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(787-789)acG>acA		Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.							58	60	60					5																	140724389		2088	4243	6331	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724389G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.789G>A	5.37:g.140724389G>A			Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T263T	p.T263T	NM_018916	NP_061739	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	789	+			263			Cadherin 3.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.789G>A	CCDS47290.1																																																																																				0.478	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		35	52	0	0	0	1	0	35	52					A	140724389	G	A	140724389	2	1	43	1	0	0	0	0	0	0	0	1	11555	1103	39	1		1	PCDHGA3	5	140724389	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08		140724389	40190871	3	853											
BAT2	7916	broad.mit.edu	37	6	31595798	31595798	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31595798C>G	ENST00000376033.2	+	12	1781	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S516C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	516	2 X type B repeats.|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)			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						GCTGCCCCTTCTACCCCAGCT	0.602																																						uc003nvb.4																			0		p.A514_S516delAPS(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.(1546-1548)tCt>tGt		Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.							131	127	128					6																	31595798		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595798C>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1547C>G	6.37:g.31595798C>G	ENSP00000365201:p.Ser516Cys		Somatic				PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.S516C	p.S516C	NM_080686	NP_542417	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			11	1796	+			516			2 X type B repeats.|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.1547C>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287336	0.23478	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.08370	3.1;3.1	4.38	4.38	0.52667	.	0.301266	0.24063	N	0.041882	T	0.02047	0.0064	N	0.08118	0	0.29312	N	0.867938	B	0.25955	0.138	B	0.24541	0.054	T	0.40040	-0.9584	10	0.87932	D	0	0.0336	14.3081	0.66397	0.0:1.0:0.0:0.0	.	516	P48634	PRC2A_HUMAN	C	516;505;516;516	ENSP00000365175:S516C;ENSP00000365201:S516C	ENSP00000365175:S516C	S	+	2	0	PRRC2A	31703777	0.584000	0.26766	0.996000	0.52242	0.913000	0.54294	2.706000	0.47135	2.453000	0.82957	0.561000	0.74099	TCT		0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		82	186	0	0	0	1	0	82	186					G	31595798	C	G	31595798	3	3	43	1	0	0	0	0	1	0	0	0	1319	913	32	4	1589	4	BAT2	6	31595798	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		31595798	139519269	4	854											
EHMT2	10919	broad.mit.edu	37	6	31847931	31847931	+	Missense_Mutation	SNP	C	C	A	rs547088463		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31847931C>A	ENST00000375537.4	-	28	3569	c.3563G>T	c.(3562-3564)cGt>cTt	p.R1188L	EHMT2_ENST00000395728.3_Missense_Mutation_p.R1245L|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1211L|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1154L|SLC44A4_ENST00000544672.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1188					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						GCGGGCCAGACGGCTCTGCTC	0.612																																						uc011don.1																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3631-3633)cGt>cTt		Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a-SPI, mRNA.							55	50	52					6																	31847931		1510	2709	4219	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.chr6:31847931C>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3563G>T	6.37:g.31847931C>A	ENSP00000364687:p.Arg1188Leu		Somatic				EHMT2_uc003nxx.1_Missense_Mutation_p.R386L|EHMT2_uc003nxy.1_Missense_Mutation_p.R986L|EHMT2_uc003nxz.1_Missense_Mutation_p.R1188L|EHMT2_uc003nya.1_Missense_Mutation_p.R1154L|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	p.R1211L	NM_025256	NP_079532	WXS	Illumina GAIIx	Phase_I	Q96KQ7	EHMT2_HUMAN			25	3636	-			1188					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3632G>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998547	0.93227	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.42;-0.36;-0.49	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	L	0.44542	1.39	0.80722	D	1	P;P;D;D	0.58620	0.913;0.948;0.983;0.97	B;P;B;P	0.44447	0.166;0.449;0.314;0.45	T	0.64571	-0.6376	10	0.52906	T	0.07	.	16.5388	0.84380	0.0:1.0:0.0:0.0	.	1211;1154;1188;1009	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1245;1211;1154;1188;1009	ENSP00000379078:R1245L;ENSP00000364678:R1211L;ENSP00000364680:R1154L;ENSP00000364687:R1188L	ENSP00000364678:R1211L	R	-	2	0	EHMT2	31955910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.623000	0.54224	2.278000	0.76064	0.561000	0.74099	CGT		0.612	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		3	45	0	0	0	1	0	3	45					A	31847931	C	A	31847931	3	1	43	1	0	0	0	0	1	0	0	0	4984	536	19	4	73	4	EHMT2	6	31847931	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	252133	31847931	139267136	5	855											
SLC29A1	2030	broad.mit.edu	37	6	44197517	44197517	+	Silent	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:44197517C>T	ENST00000393841.1	+	5	794	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SLC29A1_ENST00000371708.1_Silent_p.F101F|SLC29A1_ENST00000371724.1_Silent_p.F101F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371755.3_Silent_p.F101F|SLC29A1_ENST00000393844.1_Silent_p.F101F|SLC29A1_ENST00000371713.1_Silent_p.F101F|SLC29A1_ENST00000371740.5_Silent_p.F101F|SLC29A1_ENST00000313248.7_Silent_p.F180F|SLC29A1_ENST00000427851.2_Silent_p.F101F|SLC29A1_ENST00000371731.1_Silent_p.F101F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	101					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCAACTCCTTCCTGCATCAGA	0.592																																						uc003oww.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(538-540)ttC>ttT		Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	Troglitazone(DB00197)						122	112	116					6																	44197517		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197517C>T	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.303C>T	6.37:g.44197517C>T			Somatic				SLC29A1_uc021yzw.1_Silent_p.F101F|SLC29A1_uc011dvp.1_Silent_p.F120F|SLC29A1_uc003owu.1_Silent_p.F101F|SLC29A1_uc003owv.1_Silent_p.F101F|SLC29A1_uc011dvq.1_Silent_p.F143F|SLC29A1_uc003owx.1_Silent_p.F101F|SLC29A1_uc003owy.1_Silent_p.F101F|SLC29A1_uc003owz.1_Silent_p.F101F|SLC29A1_uc021yzx.1_Silent_p.F101F	p.F180F	NM_004955	NP_004946	WXS	Illumina GAIIx	Phase_I	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	732	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		101					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.540C>T	CCDS4908.1																																																																																				0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			4	90	0	0	0	1	0	4	90					T	44197517	C	T	44197517	2	4	43	1	0	0	0	0	0	0	0	1	14534	854	30	2		2	SLC29A1	6	44197517	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	12349586	44197517	126917550	6	856											
MDN1	23195	broad.mit.edu	37	6	90365677	90365677	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:90365677C>T	ENST00000369393.3	-	92	15411	c.15296G>A	c.(15295-15297)aGg>aAg	p.R5099K	MDN1_ENST00000428876.1_Missense_Mutation_p.R5099K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5099					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)		CCCAGGTTTCCTCTTAAAACT	0.468																																						uc003pnn.1																			0				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						c.(15295-15297)aGg>aAg		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							66	53	57					6																	90365677		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90365677C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15296G>A	6.37:g.90365677C>T	ENSP00000358400:p.Arg5099Lys		Somatic					p.R5099K	NM_014611	NP_055426	WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	91	15412	-		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)	5099					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15296G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733743	0.69189	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03181	4.02;4.02	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	M	0.65498	2.005	0.51767	D	0.999936	D	0.69078	0.997	D	0.72625	0.978	T	0.41998	-0.9477	10	0.12430	T	0.62	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	5099	Q9NU22	MDN1_HUMAN	K	5099	ENSP00000358400:R5099K;ENSP00000413970:R5099K	ENSP00000358400:R5099K	R	-	2	0	MDN1	90422398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.206000	0.77891	2.688000	0.91661	0.655000	0.94253	AGG		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	66	0	0	0	1	0	8	66					T	90365677	C	T	90365677	3	4	43	1	0	0	0	0	1	0	0	0	9415	681	24	2	1538	2	MDN1	6	90365677	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	46168160	90365677	80749390	7	857											
TFPI2	7980	broad.mit.edu	37	7	93519448	93519448	+	Splice_Site	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr7:93519448C>A	ENST00000222543.5	-	2	584		c.e2+1		TFPI2_ENST00000545378.1_Splice_Site|GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2						blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGGGCACTTACTTTCTATCCT	0.602																																						uc003umy.1																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e2+1		Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.							26	28	27					7																	93519448		2202	4299	6501	SO:0001630	splice_region_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519448C>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.271+1G>T	7.37:g.93519448C>A			Somatic				GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Splice_Site_p.K91_splice|TFPI2_uc003una.1_Splice_Site_p.K80_splice	p.K91_splice	NM_006528	NP_006519	WXS	Illumina GAIIx	Phase_I	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	346	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		91					Q66ME8|Q8NAK6|Q9UC86	Splice_Site	SNP	ENST00000222543.5	37	c.271_splice	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646382	0.29246	.	.	ENSG00000105825	ENST00000222543;ENST00000545378;ENST00000451238	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4832	0.90819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFPI2	93357384	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.393000	0.59665	2.538000	0.85594	0.313000	0.20887	.		0.602	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	Intron	23	32	0	0	0	1	0	23	32					A	93519448	C	A	93519448	5	1	43	1	0	0	0	0	0	0	1	0	15806	579	20	4	451	4	TFPI2	7	93519448	Splice_Site	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		93519448	65619215	8	858											
MTERFD1	51001	broad.mit.edu	37	8	97251725	97251725	+	Silent	SNP	C	C	T	rs377656018	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr8:97251725C>T	ENST00000287025.3	-	8	1346	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000522822.1_Silent_p.T295T|MTERFD1_ENST00000524341.1_Silent_p.T172T|KB-1043D8.6_ENST00000520575.1_RNA	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		416					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATCTAAAGCGTTTTTAAGA	0.284													C|||	3	0.000599042	8e-04	0	5008	,	,		16285	0		0	False		,,,				2504	0.002					uc003yhs.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1246-1248)acG>acA		Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.		C		2,4398	4.2+/-10.8	0,2,2198	34	36	35		1248	-1.4	1.0	8		35	0,8590		0,0,4295	no	coding-synonymous	MTERFD1	NM_015942.3		0,2,6493	TT,TC,CC		0.0,0.0455,0.0154		416/418	97251725	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97251725C>T																												ENST00000287025.3:c.1248G>A	8.37:g.97251725C>T			Somatic				MTERFD1_uc003yhr.1_Silent_p.T295T|MTERFD1_uc010mbd.1_3'UTR	p.T416T	NM_015942	NP_057026	WXS	Illumina GAIIx	Phase_I	Q96E29	MTER1_HUMAN			7	1326	-	Breast(36;5.16e-05)		416					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.1248G>A	CCDS6270.1																																																																																				0.284	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			12	19	0	0	0	1	0	12	19					T	97251725	C	T	97251725	2	4	43	1	0	0	0	0	0	0	0	1	9919	755	27	1		1	MTERFD1	8	97251725	Silent	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		97251725	49112297	9	859											
SVIL	6840	broad.mit.edu	37	10	29754571	29754571	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr10:29754571C>A	ENST00000355867.4	-	34	6838	c.6086G>T	c.(6085-6087)aGt>aTt	p.S2029I	PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1603I|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.S2029I|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S943I|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2029					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCATGGAACTGACCACAGA	0.587																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6085-6087)aGt>aTt		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							43	46	45					10																	29754571		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754571C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6086G>T	10.37:g.29754571C>A	ENSP00000348128:p.Ser2029Ile		Somatic				LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S943I|SVIL_uc001iuu.1_Missense_Mutation_p.S1603I	p.S2029I	NM_021738	NP_068506	WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			33	6839	-		Breast(68;0.103)	2029					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6086G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895895	0.52121	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.43688	1.88;1.88;1.88;0.94	4.72	3.69	0.42338	.	0.039425	0.85682	D	0.000000	T	0.40546	0.1121	L	0.58810	1.83	0.80722	D	1	B;B;B	0.33345	0.02;0.409;0.128	B;B;B	0.40982	0.169;0.345;0.083	T	0.35724	-0.9777	10	0.56958	D	0.05	-12.9702	4.5827	0.12266	0.0:0.2005:0.0:0.7995	.	943;1603;2029	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	I	1603;2029;2029;943	ENSP00000364549:S1603I;ENSP00000364547:S2029I;ENSP00000348128:S2029I;ENSP00000445472:S943I	ENSP00000348128:S2029I	S	-	2	0	SVIL	29794577	1.000000	0.71417	0.712000	0.30502	0.475000	0.33008	2.599000	0.46231	1.011000	0.39340	0.650000	0.86243	AGT		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	61	0	0	0	1	0	20	61					A	29754571	C	A	29754571	3	1	43	1	0	0	0	0	1	0	0	0	15418	565	20	4	578	4	SVIL	10	29754571	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08		29754571	105780176	10	860											
PCSK4	148223	broad.mit.edu	37	19	1482365	1482366	+	5'Flank	DEL	CT	CT	-			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:1482365_1482366delCT	ENST00000436106.2	-	0	0				PCSK4_ENST00000300954.5_Frame_Shift_Del_p.E602fs|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCACAGCCCCTCTGTGTCCCG	0.728																																						uc002ltb.1																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1804-1806)gagfs		Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.																																				SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482365_1482366delCT	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482367_1482368delCT	Exception_encountered		Somatic				PCSK4_uc002lsz.2_Frame_Shift_Del_p.E89fs|PCSK4_uc002lta.2_Frame_Shift_Del_p.R372fs	p.E602fs	NM_017573	NP_060043	WXS	Illumina GAIIx	Phase_I	Q6UW60	PCSK4_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)	13	1867_1868	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	602					B3KQN6|Q8N9R7|Q8WV94	Frame_Shift_Del	DEL	ENST00000436106.2	37	c.1805_1806delAG	CCDS45898.1																																																																																				0.728	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		3	3						3	3	---	---	---	---	-	1482366	CT	-	1482365	6	5	43	0	1	1	0	1	0	0	0	0	11602	680	24	0		0	PCSK4	19	1482365	5'Flank	DEL	CT	TCGA-CE-A13K-01A-11D-A10S-08		1482365	57646618	11	861											
KANK3	256949	broad.mit.edu	37	19	8389408	8389408	+	Silent	SNP	G	G	A	rs529108334		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:8389408G>A	ENST00000593649.1	-	10	2372	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	KANK3_ENST00000330915.3_Silent_p.I769I			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	769										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCTCCAGGGCGATGGCCAGGG	0.637																																						uc010dwa.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2305-2307)atC>atT		Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.							27	26	27					19																	8389408		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389408G>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	protein-coding gene	gene with protein product		614611	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2307C>T	19.37:g.8389408G>A			Somatic					p.I769I	NM_198471	NP_940873	WXS	Illumina GAIIx	Phase_I	Q6NY19	KANK3_HUMAN			9	2373	-			769					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2307C>T																																																																																					0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	41	0	0	0	1	0	3	41					A	8389408	G	A	8389408	2	1	43	1	0	0	0	0	0	0	0	1	7978	1048	37	1		1	KANK3	19	8389408	Silent	SNP	G	TCGA-CE-A13K-01A-11D-A10S-08	6907043	8389408	50739575	12	862											
IL28B	282617	broad.mit.edu	37	19	39734513	39734513	+	Missense_Mutation	SNP	C	C	T	rs146276429		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:39734513C>T	ENST00000413851.2	-	4	481	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	148					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GAGGCGGCCCCGGGTCCTGGG	0.692																																						uc010xut.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(442-444)cGg>cAg		Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.		T	GLN/ARG	0,4392		0,0,2196	21	28	26		443	-7.9	0.0	19	dbSNP_134	26	1,8539		0,1,4269	no	missense	IL28B	NM_172139.2	43	0,1,6465	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	148/197	39734513	1,12931	2196	4270	6466	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39734513C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.443G>A	19.37:g.39734513C>T	ENSP00000409000:p.Arg148Gln		Somatic				IL28B_uc010xuu.2_Missense_Mutation_p.R148Q	p.R148Q	NM_172139	NP_742151	WXS	Illumina GAIIx	Phase_I	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		3	445	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		148					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.443G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	c	4.345	0.063564	0.08388	0.0	1.17E-4	ENSG00000197110	ENST00000413851	T	0.31247	1.5	3.95	-7.91	0.01165	.	1.913640	0.02255	N	0.066998	T	0.13586	0.0329	L	0.28504	0.86	0.09310	N	1	P	0.35226	0.491	B	0.19391	0.025	T	0.14587	-1.0467	10	0.20519	T	0.43	-0.2085	2.5438	0.04732	0.1054:0.2174:0.2089:0.4682	.	148	Q8IZI9	IL28B_HUMAN	Q	148	ENSP00000409000:R148Q	ENSP00000409000:R148Q	R	-	2	0	IL28B	44426353	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-2.602000	0.00891	-2.265000	0.00688	-2.559000	0.00174	CGG		0.692	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		8	58	0	0	0	1	0	8	58					T	39734513	C	T	39734513	3	4	43	1	0	0	0	0	1	0	0	0	7683	652	23	1	154	1	IL28B	19	39734513	Missense_Mutation	SNP	C	TCGA-CE-A13K-01A-11D-A10S-08	31345105	39734513	19394470	13	863											
ANKRD17	26057	broad.mit.edu	37	4	73957562	73957562	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:73957562G>A	ENST00000358602.4	-	29	5899	c.5783C>T	c.(5782-5784)cCt>cTt	p.P1928L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1815L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1677L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1928					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCCTGACAGGAAACGGACC	0.532																																						uc003hgp.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5782-5784)cCt>cTt		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							86	82	83					4																	73957562		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957562G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5783C>T	4.37:g.73957562G>A	ENSP00000351416:p.Pro1928Leu		Somatic				ANKRD17_uc003hgo.3_Missense_Mutation_p.P1815L|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1677L|ANKRD17_uc003hgr.3_Missense_Mutation_p.P1927L	p.P1928L	NM_032217	NP_115593	WXS	Illumina GAIIx	Phase_I	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		28	5900	-	Breast(15;0.000295)		1928					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5783C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762073	0.69763	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.70282	-0.47;-0.47;-0.42	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000003	D	0.82527	0.5056	L	0.55990	1.75	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;0.996;0.996	T	0.83346	-0.0005	10	0.87932	D	0	.	19.7368	0.96210	0.0:0.0:1.0:0.0	.	1927;1677;1928;1815	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	1928;1335;1677;1815;312	ENSP00000351416:P1928L;ENSP00000332265:P1677L;ENSP00000427151:P1815L	ENSP00000332265:P1677L	P	-	2	0	ANKRD17	74176426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.672000	0.90937	0.460000	0.39030	CCT		0.532	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		3	89	0	0	0	1	0	3	89					A	73957562	G	A	73957562	3	1	44	1	0	0	0	0	1	0	0	0	646	1000	35	2	2052	2	ANKRD17	4	73957562	Missense_Mutation	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		73957562	117196714	1	864											
CYP2U1	113612	broad.mit.edu	37	4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:108866315C>T	ENST00000332884.6	+	2	955	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	227					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438																																						uc003hyp.3																			0		p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(679-681)gCc>gTc		Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.							138	134	135					4																	108866315		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866315C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.680C>T	4.37:g.108866315C>T	ENSP00000333212:p.Ala227Val		Somatic				CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	p.A227V	NM_183075	NP_898898	WXS	Illumina GAIIx	Phase_I	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	1	763	+		Hepatocellular(203;0.217)	227					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.680C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974651	0.92919	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.69435	-0.4;-0.4	5.63	5.63	0.86233	.	0.101545	0.64402	D	0.000002	D	0.83871	0.5348	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85220	0.1026	10	0.62326	D	0.03	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	227	Q7Z449	CP2U1_HUMAN	V	227;184;18	ENSP00000333212:A227V;ENSP00000423667:A18V	ENSP00000333212:A227V	A	+	2	0	CYP2U1	109085764	1.000000	0.71417	0.951000	0.38953	0.973000	0.67179	5.759000	0.68785	2.652000	0.90054	0.655000	0.94253	GCC		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	76	0	0	0	1	0	4	76					T	108866315	C	T	108866315	3	4	44	1	0	0	0	0	1	0	0	0	4175	739	26	2	686	2	CYP2U1	4	108866315	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08	34908753	108866315	82287961	2	865											
RAI14	26064	broad.mit.edu	37	5	34811917	34811917	+	Silent	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr5:34811917G>A	ENST00000265109.3	+	9	890	c.603G>A	c.(601-603)gtG>gtA	p.V201V	RAI14_ENST00000512629.1_Silent_p.V201V|RAI14_ENST00000506376.1_Silent_p.V193V|RAI14_ENST00000428746.2_Silent_p.V201V|RAI14_ENST00000397449.1_Silent_p.V194V|RAI14_ENST00000503673.1_Silent_p.V201V|RAI14_ENST00000515799.1_Silent_p.V204V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	201						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)					CTAACGCTGTGGAAGCCTTAA	0.378																																						uc003jis.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.(610-612)gtG>gtA		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							71	74	73					5																	34811917		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811917G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.603G>A	5.37:g.34811917G>A			Somatic				RAI14_uc003jir.3_Silent_p.V201V|RAI14_uc010iur.3_Silent_p.V201V|RAI14_uc011coj.2_Silent_p.V201V|RAI14_uc010ius.1_Silent_p.V130V|RAI14_uc003jit.3_Silent_p.V201V|RAI14_uc011cok.2_Silent_p.V193V	p.V204V	NM_001145525	NP_001138997	WXS	Illumina GAIIx	Phase_I	Q9P0K7	RAI14_HUMAN			10	1151	+	all_lung(31;0.000191)		201					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.612G>A	CCDS34142.1																																																																																				0.378	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		7	52	0	0	0	1	0	7	52					A	34811917	G	A	34811917	2	1	44	1	0	0	0	0	0	0	0	1	13008	1335	47	2		2	RAI14	5	34811917	Silent	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		34811917	146103343	3	866											
PTPRZ1	5803	broad.mit.edu	37	7	121651637	121651637	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr7:121651637C>T	ENST00000393386.2	+	12	2948	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	846					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCACAAGTTACTTCAGCTACC	0.473																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2536-2538)aCt>aTt		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							149	136	141					7																	121651637		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651637C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2537C>T	7.37:g.121651637C>T	ENSP00000377047:p.Thr846Ile		Somatic				PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	p.T846I	NM_002851	NP_002842	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			11	2932	+			846					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2537C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702505	0.68501	.	.	ENSG00000106278	ENST00000393386	T	0.50277	0.75	5.71	5.71	0.89125	.	0.176747	0.40302	N	0.001131	T	0.62048	0.2396	M	0.67953	2.075	0.80722	D	1	P	0.50710	0.938	P	0.52267	0.694	T	0.64909	-0.6296	10	0.87932	D	0	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	846	P23471	PTPRZ_HUMAN	I	846	ENSP00000377047:T846I	ENSP00000377047:T846I	T	+	2	0	PTPRZ1	121438873	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.046000	0.57376	2.691000	0.91804	0.650000	0.86243	ACT		0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	126	0	0	0	1	0	8	126					T	121651637	C	T	121651637	3	4	44	1	0	0	0	0	1	0	0	0	12814	565	20	2	2583	2	PTPRZ1	7	121651637	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08		121651637	37487026	4	867											
C10orf12	26148	broad.mit.edu	37	10	98742786	98742786	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:98742786A>G	ENST00000286067.2	+	1	1746	c.1639A>G	c.(1639-1641)Aaa>Gaa	p.K547E		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	547										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAACGTTCAAAAAAAGAAGG	0.443																																						uc001kmv.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(1639-1641)Aaa>Gaa		Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.							59	70	66					10																	98742786		2202	4300	6502	SO:0001583	missense	26148							g.chr10:98742786A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1639A>G	10.37:g.98742786A>G	ENSP00000286067:p.Lys547Glu		Somatic					p.K547E	NM_015652	NP_056467	WXS	Illumina GAIIx	Phase_I	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	0	1746	+		Colorectal(252;0.172)	547					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1639A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	8.687	0.906564	0.17833	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10960	2.82	5.82	3.47	0.39725	.	0.530281	0.17255	N	0.180981	T	0.09113	0.0225	L	0.34521	1.04	0.27948	N	0.937272	B	0.18461	0.028	B	0.22386	0.039	T	0.19943	-1.0290	10	0.59425	D	0.04	-10.3251	7.6678	0.28441	0.7888:0.1404:0.0708:0.0	.	547	Q8N655	CJ012_HUMAN	E	547;381	ENSP00000286067:K547E	ENSP00000286067:K547E	K	+	1	0	C10orf12	98732776	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	2.549000	0.45803	0.462000	0.27095	-0.488000	0.04728	AAA		0.443	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		8	54	0	0	0	1	0	8	54					G	98742786	A	G	98742786	3	3	44	1	0	0	0	0	1	0	0	0	1589	15	1	3	1641	3	C10orf12	10	98742786	Missense_Mutation	SNP	A	TCGA-CE-A27D-01A-11D-A16O-08		98742786	36791961	5	868											
C10orf119	79892	broad.mit.edu	37	10	121612707	121612707	+	Splice_Site	SNP	G	G	A	rs111837774		TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:121612707G>A	ENST00000360003.3	-	6	599		c.e6-1		MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Intron	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAACATAGGCGTTAAACGAAA	0.363																																						uc001ler.2																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.e6-1		Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.							208	182	190					10																	121612707		2203	4300	6503	SO:0001630	splice_region_variant	79892				DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121612707G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.430-1C>T	10.37:g.121612707G>A			Somatic				MCMBP_uc001leq.1_Splice_Site|MCMBP_uc001les.1_Intron|MCMBP_uc001let.1_Splice_Site	p.A144_splice	NM_024834	NP_079110	WXS	Illumina GAIIx	Phase_I	Q9BTE3	MCMBP_HUMAN			6	728	-			144					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Splice_Site	SNP	ENST00000360003.3	37	c.430_splice	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249790	0.80024	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7333	0.88384	0.0:0.122:0.878:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCMBP	121602697	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.881000	0.56152	2.941000	0.99782	0.655000	0.94253	.		0.363	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	Intron	10	80	0	0	0	1	0	10	80					A	121612707	G	A	121612707	5	1	44	1	0	0	0	0	0	0	1	0	1588	1159	40	1	1543	1	C10orf119	10	121612707	Splice_Site	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08	22869921	121612707	13922040	6	869											
CCDC89	220388	broad.mit.edu	37	11	85396623	85396623	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr11:85396623T>C	ENST00000316398.3	-	1	697	c.551A>G	c.(550-552)gAg>gGg	p.E184G	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	184						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)				AGTGAGGGCCTCACACCGGAC	0.587																																						uc001pau.1																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(550-552)gAg>gGg		Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.							122	114	117					11																	85396623		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396623T>C	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.551A>G	11.37:g.85396623T>C	ENSP00000320649:p.Glu184Gly		Somatic					p.E184G	NM_152723	NP_689936	WXS	Illumina GAIIx	Phase_I	Q8N998	CCD89_HUMAN			0	698	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	184						Missense_Mutation	SNP	ENST00000316398.3	37	c.551A>G	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	t	8.037	0.762928	0.15914	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	4.65	0.58169	.	0.505445	0.21147	N	0.079393	T	0.26048	0.0635	L	0.43923	1.385	0.09310	N	1	P	0.38504	0.634	B	0.33620	0.167	T	0.14309	-1.0477	8	.	.	.	-2.9858	6.9545	0.24563	0.0:0.0768:0.2833:0.6399	.	184	Q8N998	CCD89_HUMAN	G	184	.	.	E	-	2	0	CCDC89	85074271	0.003000	0.15002	0.378000	0.26068	0.135000	0.20990	1.264000	0.33015	0.992000	0.38840	0.529000	0.55759	GAG		0.587	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		3	147	0	0	0	1	0	3	147					C	85396623	T	C	85396623	3	2	44	1	0	0	0	0	1	0	0	0	2866	1551	54	3	577	3	CCDC89	11	85396623	Missense_Mutation	SNP	T	TCGA-CE-A27D-01A-11D-A16O-08		85396623	49609893	7	870											
ZNF677	342926	broad.mit.edu	37	19	53740670	53740670	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr19:53740670C>T	ENST00000598513.1	-	5	1460	c.1310G>A	c.(1309-1311)gGc>gAc	p.G437D	ZNF677_ENST00000333952.4_Missense_Mutation_p.G437D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	437					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)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAAAGCCCTGCCACACACATT	0.368																																						uc002qbf.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1309-1311)gGc>gAc		Homo sapiens zinc finger protein 677 (ZNF677), mRNA.							47	44	45					19																	53740670		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740670C>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1310G>A	19.37:g.53740670C>T	ENSP00000469391:p.Gly437Asp		Somatic				ZNF677_uc002qbg.1_Missense_Mutation_p.G437D	p.G437D	NM_182609	NP_872415	WXS	Illumina GAIIx	Phase_I	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	4	1495	-			437						Missense_Mutation	SNP	ENST00000598513.1	37	c.1310G>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936199	0.34189	.	.	ENSG00000197928	ENST00000333952	T	0.58358	0.34	2.21	0.0737	0.14392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.220904	0.23270	N	0.050030	T	0.27559	0.0677	N	0.11000	0.08	0.26011	N	0.981984	B	0.27594	0.182	B	0.28553	0.091	T	0.14699	-1.0463	10	0.59425	D	0.04	.	4.778	0.13189	0.0:0.5141:0.0:0.4859	.	437	Q86XU0	ZN677_HUMAN	D	437	ENSP00000334394:G437D	ENSP00000334394:G437D	G	-	2	0	ZNF677	58432482	0.015000	0.18098	0.754000	0.31244	0.882000	0.50991	0.154000	0.16343	0.082000	0.17018	0.655000	0.94253	GGC		0.368	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		3	34	0	0	0	1	0	3	34					T	53740670	C	T	53740670	3	4	44	1	0	0	0	0	1	0	0	0	18081	739	26	2	448	2	ZNF677	19	53740670	Missense_Mutation	SNP	C	TCGA-CE-A27D-01A-11D-A16O-08		53740670	5388313	8	871											
MGAT3	4248	broad.mit.edu	37	22	39883399	39883399	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr22:39883399G>A	ENST00000341184.6	+	2	262	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	16					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGTATGGCCGGCCTGTGCCTC	0.562																																						uc003axv.4																			0		p.A15V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(46-48)gGc>gAc		Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.							209	200	203					22																	39883399		2203	4300	6503	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883399G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.47G>A	22.37:g.39883399G>A	ENSP00000345270:p.Gly16Asp		Somatic				MGAT3_uc010gxy.3_Missense_Mutation_p.G16D	p.G16D	NM_002409	NP_002400	WXS	Illumina GAIIx	Phase_I	Q09327	MGAT3_HUMAN			1	286	+	Melanoma(58;0.04)		16					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.47G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417569	0.83449	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.72494	-0.4276	9	0.87932	D	0	.	18.6374	0.91383	0.0:0.0:1.0:0.0	.	16	Q09327	MGAT3_HUMAN	D	16;16;44	.	ENSP00000345270:G16D	G	+	2	0	MGAT3	38213345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.210000	0.77924	2.397000	0.81536	0.467000	0.42956	GGC		0.562	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		4	212	0	0	0	1	0	4	212					A	39883399	G	A	39883399	3	1	44	1	0	0	0	0	1	0	0	0	9544	1203	42	2	49	2	MGAT3	22	39883399	Missense_Mutation	SNP	G	TCGA-CE-A27D-01A-11D-A16O-08		39883399	11421167	9	872											
MACF1	23499	broad.mit.edu	37	1	39847746	39847746	+	Silent	SNP	G	G	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:39847746G>A	ENST00000372915.3	+	55	13872	c.13785G>A	c.(13783-13785)gaG>gaA	p.E4595E	MACF1_ENST00000545844.1_Silent_p.E2528E|MACF1_ENST00000564288.1_Silent_p.E4590E|MACF1_ENST00000539005.1_Silent_p.E2507E|MACF1_ENST00000361689.2_Silent_p.E2528E|MACF1_ENST00000317713.7_Silent_p.E2528E|MACF1_ENST00000567887.1_Silent_p.E4627E|MACF1_ENST00000289893.4_Silent_p.E3030E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4595					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)			GGCTGATGGAGAAAGAACTGA	0.532																																						uc021olw.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.(9088-9090)gaG>gaA		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							56	59	58					1																	39847746		2203	4300	6503	SO:0001819	synonymous_variant	23499				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	g.chr1:39847746G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	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"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13785G>A	1.37:g.39847746G>A			Somatic				MACF1_uc021ols.1_Silent_p.E2528E|MACF1_uc001cdc.2_Silent_p.E2507E|MACF1_uc021olt.1_Silent_p.E2528E|MACF1_uc001cda.1_Silent_p.E2415E	p.E3030E	NM_012090	NP_036222	WXS	Illumina GAIIx	Phase_I	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)		19	9090	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4595					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.9090G>A		.	.	.	.	.	.	.	.	.	.	G	9.218	1.032666	0.19590	.	.	ENSG00000127603	ENST00000372925	T	0.41065	1.01	5.95	4.07	0.47477	.	0.000000	0.64402	D	0.000017	T	0.50000	0.1590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40534	-0.9558	7	0.33141	T	0.24	.	13.1435	0.59448	0.1278:0.0:0.8722:0.0	.	.	.	.	K	1641	ENSP00000362016:E1641K	ENSP00000362016:E1641K	E	+	1	0	MACF1	39620333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.907000	0.63300	0.839000	0.34971	0.650000	0.86243	GAA		0.532	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	64	0	0	0	1	0	3	64					A	39847746	G	A	39847746	2	1	45	1	0	0	0	0	0	0	0	1	9144	933	33	2		2	MACF1	1	39847746	Silent	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		39847746	209402875	1	873											
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						uc001fsw.1																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.							149	140	143					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu		Somatic					p.F311L	NM_001005184	NP_001005184	WXS	Illumina GAIIx	Phase_I	Q8NGW6	OR6K6_HUMAN			0	931	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		3	135	0	0	0	1	0	3	135					C	158725536	T	C	158725536	3	2	45	1	0	0	0	0	1	0	0	0	11204	1609	56	3	933	3	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-CE-A3MD-01A-11D-A20C-08	118877790	158725536	90525085	2	874											
GOLGB1	2804	broad.mit.edu	37	3	121409980	121409980	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr3:121409980G>A	ENST00000340645.5	-	14	8341	c.8216C>T	c.(8215-8217)tCt>tTt	p.S2739F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S2744F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2739					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)		GGAACTCATAGACCTTCCAAA	0.398																																						uc010hrc.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.(8230-8232)tCt>tTt		Homo sapiens golgin B1 (GOLGB1), mRNA.							190	189	189					3																	121409980		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121409980G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8216C>T	3.37:g.121409980G>A	ENSP00000341848:p.Ser2739Phe		Somatic				GOLGB1_uc003eei.4_Missense_Mutation_p.S2739F|GOLGB1_uc003eej.4_Missense_Mutation_p.S2705F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S2664F	p.S2744F	NM_004487	NP_004478	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	8357	-			2739					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8231C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525122	0.44969	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.19394	2.15;2.15	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000014	T	0.47451	0.1446	M	0.70595	2.14	0.53005	D	0.999961	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.987;0.987;0.991	T	0.42224	-0.9464	10	0.66056	D	0.02	.	17.1545	0.86787	0.0:0.0:1.0:0.0	.	2744;2744;2739	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	F	2739;2744	ENSP00000341848:S2739F;ENSP00000377275:S2744F	ENSP00000341848:S2739F	S	-	2	0	GOLGB1	122892670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.269000	0.95684	2.642000	0.89623	0.655000	0.94253	TCT		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		6	176	0	0	0	1	0	6	176					A	121409980	G	A	121409980	3	1	45	1	0	0	0	0	1	0	0	0	6565	942	33	2	1599	2	GOLGB1	3	121409980	Missense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		121409980	76612450	3	875											
ARSI	340075	broad.mit.edu	37	5	149676882	149676882	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr5:149676882C>A	ENST00000328668.7	-	2	2184	c.1605G>T	c.(1603-1605)agG>agT	p.R535S		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	535					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)			AGCTTCGAGCCCTCCCTTCCT	0.552																																						uc003lrv.2																			0		p.G534W(1)		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.(1603-1605)agG>agT		Homo sapiens arylsulfatase family, member I (ARSI), mRNA.							105	116	112					5																	149676882		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676882C>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1605G>T	5.37:g.149676882C>A	ENSP00000333395:p.Arg535Ser		Somatic					p.R535S	NM_001012301	NP_001012301	WXS	Illumina GAIIx	Phase_I	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2194	-			535					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1605G>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937748	0.00484	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97016	-4.21;-3.32	4.56	1.7	0.24286	.	0.581829	0.18755	N	0.132057	D	0.87935	0.6303	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.73789	-0.3872	10	0.09084	T	0.74	.	2.2815	0.04115	0.1346:0.4932:0.132:0.2401	.	535	Q5FYB1	ARSI_HUMAN	S	535;392	ENSP00000333395:R535S;ENSP00000426879:R392S	ENSP00000333395:R535S	R	-	3	2	ARSI	149657075	0.003000	0.15002	0.506000	0.27664	0.168000	0.22595	0.237000	0.17985	0.520000	0.28426	0.643000	0.83706	AGG		0.552	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		109	161	0	0	0	1	0	109	161					A	149676882	C	A	149676882	3	1	45	1	0	0	0	0	1	0	0	0	994	622	22	4	108	4	ARSI	5	149676882	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		149676882	31238378	4	876											
DNAH8	1769	broad.mit.edu	37	6	38775405	38775405	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr6:38775405C>G	ENST00000359357.3	+	22	2773	c.2519C>G	c.(2518-2520)gCt>gGt	p.A840G	DNAH8_ENST00000441566.1_Missense_Mutation_p.A840G|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1057G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	840					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						GAGGTCTTTGCTTTTTTCTCT	0.343																																						uc021yzh.1																			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.(3169-3171)gCt>gGt		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							100	101	101					6																	38775405		2202	4296	6498	SO:0001583	missense	1769							g.chr6:38775405C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2519C>G	6.37:g.38775405C>G	ENSP00000352312:p.Ala840Gly		Somatic				DNAH8_uc003ooe.2_Missense_Mutation_p.A840G	p.A1057G	NM_001206927	NP_001193856	WXS	Illumina GAIIx	Phase_I					23	3279	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3170C>G		.	.	.	.	.	.	.	.	.	.	C	12.81	2.050553	0.36181	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25912	1.8;1.79;1.77	6.07	5.2	0.72013	.	0.205021	0.42682	D	0.000666	T	0.11281	0.0275	L	0.51422	1.61	0.39791	D	0.972436	B	0.06786	0.001	B	0.08055	0.003	T	0.06789	-1.0807	10	0.21014	T	0.42	.	12.6766	0.56897	0.0:0.9231:0.0:0.0769	.	840	Q96JB1	DYH8_HUMAN	G	1045;1045;840;840	ENSP00000333363:A1045G;ENSP00000352312:A840G;ENSP00000402294:A840G	ENSP00000333363:A1045G	A	+	2	0	DNAH8	38883383	0.961000	0.32948	0.991000	0.47740	0.994000	0.84299	1.700000	0.37815	1.591000	0.50007	0.650000	0.86243	GCT		0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		28	65	0	0	0	1	0	28	65					G	38775405	C	G	38775405	3	3	45	1	0	0	0	0	1	0	0	0	4607	797	28	4	2597	4	DNAH8	6	38775405	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		38775405	132339662	5	877											
TG	7038	broad.mit.edu	37	8	133920500	133920500	+	Missense_Mutation	SNP	G	G	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr8:133920500G>C	ENST00000220616.4	+	18	3957	c.3917G>C	c.(3916-3918)tGc>tCc	p.C1306S	TG_ENST00000377869.1_Missense_Mutation_p.C1306S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1306					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)		GGCAAGATGTGCAGTGCTGAC	0.597																																						uc003ytw.3																			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.(3916-3918)tGc>tCc		Homo sapiens thyroglobulin (TG), mRNA.							72	66	68					8																	133920500		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920500G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3917G>C	8.37:g.133920500G>C	ENSP00000220616:p.Cys1306Ser		Somatic				TG_uc010mdw.3_Missense_Mutation_p.C65S	p.C1306S	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	17	3958	+	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)	1306					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3917G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324658	0.60634	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.72394	-0.65;-0.57	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.70159	0.3192	M	0.71581	2.175	0.41655	D	0.989156	P	0.39480	0.675	B	0.37091	0.241	T	0.76044	-0.3103	10	0.87932	D	0	.	14.8675	0.70427	0.0:0.0:1.0:0.0	.	1306	P01266	THYG_HUMAN	S	1306;112;1306	ENSP00000367100:C1306S;ENSP00000220616:C1306S	ENSP00000220616:C1306S	C	+	2	0	TG	133989682	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.889000	0.69766	2.567000	0.86603	0.650000	0.86243	TGC		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		47	72	0	0	0	1	0	47	72					C	133920500	G	C	133920500	3	2	45	1	0	0	0	0	1	0	0	0	15810	1319	46	4	3987	4	TG	8	133920500	Missense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		133920500	12443522	6	878											
OR56B4	196335	broad.mit.edu	37	11	6129771	6129771	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:6129771C>A	ENST00000316529.3	+	1	858	c.763C>A	c.(763-765)Ctc>Atc	p.L255I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	255						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(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCTCATCCTCTTCCACAC	0.478																																						uc010qzx.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(763-765)Ctc>Atc		Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.							142	129	134					11																	6129771		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129771C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.763C>A	11.37:g.6129771C>A	ENSP00000321196:p.Leu255Ile		Somatic					p.L255I	NM_001005181	NP_001005181	WXS	Illumina GAIIx	Phase_I	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	763	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	255					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.763C>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716505	0.48622	.	.	ENSG00000180919	ENST00000316529	T	0.00256	8.42	4.06	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33401	U	0.004951	T	0.00356	0.0011	M	0.76433	2.335	0.09310	N	1	P	0.49559	0.925	P	0.59012	0.85	T	0.43147	-0.9409	10	0.66056	D	0.02	.	5.1562	0.15036	0.1688:0.6291:0.0:0.2021	.	255	Q8NH76	O56B4_HUMAN	I	255	ENSP00000321196:L255I	ENSP00000321196:L255I	L	+	1	0	OR56B4	6086347	0.001000	0.12720	0.808000	0.32385	0.873000	0.50193	0.468000	0.22051	0.432000	0.26286	0.556000	0.70494	CTC		0.478	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		4	83	0	0	0	1	0	4	83					A	6129771	C	A	6129771	3	1	45	1	0	0	0	0	1	0	0	0	11138	681	24	4	765	4	OR56B4	11	6129771	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		6129771	128876745	7	879											
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000536719.1_Missense_Mutation_p.K265R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	uc001mor.3																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.							262	254	257					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg		Somatic					p.K265R	NM_006292	NP_006283	WXS	Illumina GAIIx	Phase_I	Q99816	TS101_HUMAN			7	934	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		6	392	0	0	0	1	0	6	392					C	18505466	T	C	18505466	3	2	45	1	0	0	0	0	1	0	0	0	16613	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-CE-A3MD-01A-11D-A20C-08	12375695	18505466	116501050	8	880											
NAA40	79829	broad.mit.edu	37	11	63720256	63720256	+	Missense_Mutation	SNP	C	C	T	rs536599515		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:63720256C>T	ENST00000377793.4	+	6	540	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	NAA40_ENST00000542163.1_Missense_Mutation_p.R126W|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.R107W	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	147	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCAAGGTGCGGCGGAAAGG	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		21611	0		0	False		,,,				2504	0					uc009yoz.3																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(439-441)Cgg>Tgg		Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.							93	82	85					11																	63720256		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63720256C>T	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.439C>T	11.37:g.63720256C>T	ENSP00000367024:p.Arg147Trp		Somatic				NAA40_uc010rmw.2_Missense_Mutation_p.R107W|NAA40_uc010rmx.2_Missense_Mutation_p.R126W|NAA40_uc010rmy.2_Non-coding_Transcript	p.R147W	NM_024771	NP_079047	WXS	Illumina GAIIx	Phase_I	Q86UY6	NAA40_HUMAN			5	566	+			147			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.439C>T	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333728	0.81801	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.61742	0.08;0.08;0.08	5.94	5.02	0.67125	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.80190	-0.1485	10	0.87932	D	0	-10.5196	13.6677	0.62405	0.2807:0.7193:0.0:0.0	.	107;147	B4DU10;Q86UY6	.;NAA40_HUMAN	W	147;107;126	ENSP00000367024:R147W;ENSP00000407578:R107W;ENSP00000442055:R126W	ENSP00000367024:R147W	R	+	1	2	NAA40	63476832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.797000	0.26999	1.487000	0.48415	0.650000	0.86243	CGG		0.542	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		4	118	0	0	0	1	0	4	118					T	63720256	C	T	63720256	3	4	45	1	0	0	0	0	1	0	0	0	10125	759	27	1	461	1	NAA40	11	63720256	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	45214790	63720256	71286260	9	881											
ADAMTS8	11095	broad.mit.edu	37	11	130275958	130275958	+	Missense_Mutation	SNP	C	C	T	rs367590895		TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr11:130275958C>T	ENST00000257359.6	-	9	2871	c.2165G>A	c.(2164-2166)aGc>aAc	p.S722N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	722	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACCCGGGTGGCTCCGCTGCTT	0.542																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2164-2166)aGc>aAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.		C	ASN/SER	0,4212		0,0,2106	78	81	80		2165	4.4	1.0	11		80	1,8435		0,1,4217	no	missense	ADAMTS8	NM_007037.4	46	0,1,6323	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging	722/890	130275958	1,12647	2106	4218	6324	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275958C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2165G>A	11.37:g.130275958C>T	ENSP00000257359:p.Ser722Asn		Somatic				ADAMTS8_uc001qgf.3_Missense_Mutation_p.S203N	p.S722N	NM_007037	NP_008968	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	8	2523	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	722			Spacer.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2165G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433160	0.43224	0.0	1.19E-4	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.50813	0.73	5.35	4.43	0.53597	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.60455	1.87	0.51233	D	0.999919	P;B	0.46706	0.883;0.363	P;B	0.55222	0.771;0.267	T	0.52139	-0.8615	10	0.09590	T	0.72	.	15.3481	0.74359	0.1409:0.8591:0.0:0.0	.	722;203	Q9UP79;B3KVX9	ATS8_HUMAN;.	N	120;722;751	ENSP00000257359:S722N	ENSP00000257359:S722N	S	-	2	0	ADAMTS8	129781168	1.000000	0.71417	0.988000	0.46212	0.536000	0.34869	4.689000	0.61723	1.218000	0.43458	0.467000	0.42956	AGC		0.542	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		92	132	0	0	0	1	0	92	132					T	130275958	C	T	130275958	3	4	45	1	0	0	0	0	1	0	0	0	272	797	28	2	508	2	ADAMTS8	11	130275958	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08	66555702	130275958	4730558	10	882											
ERC1	23085	broad.mit.edu	37	12	1225197	1225197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr12:1225197G>T	ENST00000397203.2	+	7	1973	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	ERC1_ENST00000543086.3_Nonsense_Mutation_p.E495*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E523*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E523*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E523*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E523*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	523					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)			CCTGCAGACTGAGGTAGAAAC	0.428																																						uc001qjb.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.(1567-1569)Gag>Tag		Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.							92	92	92					12																	1225197		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1225197G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1567G>T	12.37:g.1225197G>T	ENSP00000380386:p.Glu523*		Somatic				ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Nonsense_Mutation_p.E495*|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Nonsense_Mutation_p.E523*|ERC1_uc010sdv.1_Nonsense_Mutation_p.E271*|ERC1_uc009zdp.3_Nonsense_Mutation_p.E163*	p.E523*	NM_178040	NP_829884	WXS	Illumina GAIIx	Phase_I	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		6	1808	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		523					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.1567G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	39	7.428208	0.98279	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.14	5.14	0.70334	.	0.102180	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-27.3138	19.4902	0.95047	0.0:0.0:1.0:0.0	.	.	.	.	X	495;523;495;495;495;495;523;523;523;495;271;163	.	ENSP00000340054:E495X	E	+	1	0	ERC1	1095458	1.000000	0.71417	0.935000	0.37517	0.059000	0.15707	9.737000	0.98831	2.780000	0.95670	0.585000	0.79938	GAG		0.428	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		47	115	0	0	0	1	0	47	115					T	1225197	G	T	1225197	4	4	45	1	0	0	0	0	0	1	0	0	5210	1291	45	4	1589	4	ERC1	12	1225197	Nonsense_Mutation	SNP	G	TCGA-CE-A3MD-01A-11D-A20C-08		1225197	132626698	11	883											
OR4N5	390437	broad.mit.edu	37	14	20612596	20612596	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:20612596C>A	ENST00000333629.1	+	1	702	c.702C>A	c.(700-702)agC>agA	p.S234R	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	234			S -> T (in dbSNP:rs10140908).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AAGGAAAGAGCAAGGCTATTT	0.502																																						uc010tla.2																			0		p.K233R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(700-702)agC>agA		Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.							152	152	152					14																	20612596		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612596C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.702C>A	14.37:g.20612596C>A	ENSP00000332110:p.Ser234Arg		Somatic					p.S234R	NM_001004724	NP_001004724	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	0	702	+	all_cancers(95;0.00108)		234		S -> T (in dbSNP:rs10140908).			Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.702C>A	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.159617	0.00321	.	.	ENSG00000184394	ENST00000333629	T	0.00099	8.73	3.88	-0.575	0.11734	GPCR, rhodopsin-like superfamily (1);	0.997836	0.08112	N	0.996023	T	0.00073	0.0002	N	0.03304	-0.355	0.20563	N	0.999885	B	0.20368	0.044	B	0.29353	0.101	T	0.32134	-0.9918	10	0.02654	T	1	.	0.558	0.00674	0.1767:0.3307:0.1725:0.32	.	234	Q8IXE1	OR4N5_HUMAN	R	234	ENSP00000332110:S234R	ENSP00000332110:S234R	S	+	3	2	OR4N5	19682436	0.000000	0.05858	0.406000	0.26421	0.530000	0.34684	-2.319000	0.01120	0.070000	0.16634	0.655000	0.94253	AGC		0.502	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			60	164	0	0	0	1	0	60	164					A	20612596	C	A	20612596	3	1	45	1	0	0	0	0	1	0	0	0	11079	709	25	4	704	4	OR4N5	14	20612596	Missense_Mutation	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		20612596	86736944	12	884											
LTBP2	4053	broad.mit.edu	37	14	74975354	74975354	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr14:74975354A>G	ENST00000261978.4	-	24	3991	c.3605T>C	c.(3604-3606)cTg>cCg	p.L1202P	LTBP2_ENST00000556690.1_Missense_Mutation_p.L1202P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1202	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCGCGCACAGACAGAAGAA	0.627																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3604-3606)cTg>cCg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							45	55	51					14																	74975354		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975354A>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3605T>C	14.37:g.74975354A>G	ENSP00000261978:p.Leu1202Pro		Somatic					p.L1202P	NM_000428	NP_000419	WXS	Illumina GAIIx	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	23	3992	-			1202			Cys-rich.|EGF-like 12; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3605T>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835711	0.71373	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.92495	-3.05;-3.05	5.2	5.2	0.72013	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37348	N	0.002128	D	0.92325	0.7565	L	0.31207	0.915	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.90635	0.4570	10	0.25751	T	0.34	.	13.7931	0.63155	1.0:0.0:0.0:0.0	.	1202	Q14767	LTBP2_HUMAN	P	1202	ENSP00000261978:L1202P;ENSP00000451477:L1202P	ENSP00000261978:L1202P	L	-	2	0	LTBP2	74045107	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.645000	0.74343	2.183000	0.69458	0.379000	0.24179	CTG		0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	81	0	0	0	1	0	4	81					G	74975354	A	G	74975354	3	3	45	1	0	0	0	0	1	0	0	0	9074	188	7	3	1912	3	LTBP2	14	74975354	Missense_Mutation	SNP	A	TCGA-CE-A3MD-01A-11D-A20C-08	54362758	74975354	32374186	13	885											
NOX5	79400	broad.mit.edu	37	15	69331268	69331268	+	Silent	SNP	C	C	A			TCGA-CE-A3MD-01A-11D-A20C-08	TCGA-CE-A3MD-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	110e918d-199b-41f0-a655-4c3a1f6989c9	4cd738dc-c677-4206-a16e-f2977c086706	g.chr15:69331268C>A	ENST00000388866.3	+	9	1484	c.1443C>A	c.(1441-1443)atC>atA	p.I481I	NOX5_ENST00000455873.3_Silent_p.I446I|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Silent_p.I453I|NOX5_ENST00000448182.3_Silent_p.I435I|NOX5_ENST00000260364.5_Silent_p.I463I	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	481	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGAACATCCCCACCATTG	0.507																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1441-1443)atC>atA		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							241	224	230					15																	69331268		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	g.chr15:69331268C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1443C>A	15.37:g.69331268C>A			Somatic				MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.I435I|NOX5_uc002arp.2_Silent_p.I463I|NOX5_uc010bid.2_Silent_p.I446I|NOX5_uc010bie.2_Silent_p.I281I|NOX5_uc002arr.2_Silent_p.I453I|NOX5_uc010bif.2_Intron	p.I481I	NM_024505	NP_078781	WXS	Illumina GAIIx	Phase_I	Q96PH1	NOX5_HUMAN			8	1484	+			481			C-terminal catalytic region.|FAD-binding FR-type.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1443C>A	CCDS32276.2																																																																																				0.507	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		100	210	0	0	0	1	0	100	210					A	69331268	C	A	69331268	2	1	45	1	0	0	0	0	0	0	0	1	10559	845	30	4		4	NOX5	15	69331268	Silent	SNP	C	TCGA-CE-A3MD-01A-11D-A20C-08		69331268	33200124	14	886											
C3orf71	646450	broad.mit.edu	37	3	48955844	48955844	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr3:48955844C>A	ENST00000408959.2	-	1	974	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	ARIH2_ENST00000449376.1_5'Flank|ARIH2_ENST00000356401.4_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	247						integral component of membrane (GO:0016021)											GCGCGGCGAACGAGGCCTCGG	0.592																																						uc010hkk.1																			0				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						c.(739-741)Gtt>Ttt		Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.							78	76	76					3																	48955844		1568	3582	5150	SO:0001583	missense	646450					integral to membrane		g.chr3:48955844C>A	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 71"	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.739G>T	3.37:g.48955844C>A	ENSP00000386193:p.Val247Phe		Somatic				ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	p.V247F	NM_001123040	NP_001116512	WXS	Illumina GAIIx	Phase_I	Q8N7S6	CC071_HUMAN			0	975	-			247						Missense_Mutation	SNP	ENST00000408959.2	37	c.739G>T	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422245	0.11928	.	.	ENSG00000221883	ENST00000408959	.	.	.	2.76	-5.53	0.02552	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.20184	0.028	T	0.18618	-1.0331	8	0.87932	D	0	.	0.5333	0.00632	0.223:0.1533:0.2938:0.33	.	247	Q8N7S6	CC071_HUMAN	F	247	.	ENSP00000386193:V247F	V	-	1	0	C3orf71	48930848	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.239000	0.01198	-2.584000	0.00460	-1.086000	0.02197	GTT		0.592	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040		5	119	0	0	0	1	0	5	119					A	48955844	C	A	48955844	3	1	46	1	0	0	0	0	1	0	0	0	2243	536	19	4	137	4	C3orf71	3	48955844	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08		48955844	149066586	1	887											
SPATA18	132671	broad.mit.edu	37	4	52945025	52945025	+	Missense_Mutation	SNP	A	A	T	rs184420694		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:52945025A>T	ENST00000295213.4	+	8	1519	c.1145A>T	c.(1144-1146)cAt>cTt	p.H382L	SPATA18_ENST00000419395.2_Missense_Mutation_p.H350L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	382					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCATTTGTCATCTTGATCTA	0.383													A|||	1	0.000199681	0	0.0014	5008	,	,		19872	0		0	False		,,,				2504	0					uc003gzl.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1144-1146)cAt>cTt		Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.							260	240	247					4																	52945025		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945025A>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1145A>T	4.37:g.52945025A>T	ENSP00000295213:p.His382Leu		Somatic				SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.H350L|SPATA18_uc003gzk.1_Missense_Mutation_p.H382L	p.H382L	NM_145263	NP_660306	WXS	Illumina GAIIx	Phase_I	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1423	+			382					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1145A>T	CCDS3489.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	14.09	2.431082	0.43122	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34667	1.35;1.35	4.99	4.99	0.66335	.	0.051964	0.85682	D	0.000000	T	0.53061	0.1773	L	0.50333	1.59	0.39815	D	0.972768	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.83275	0.93;0.93;0.996	T	0.58053	-0.7704	10	0.87932	D	0	-25.3481	12.7086	0.57076	1.0:0.0:0.0:0.0	.	350;382;382	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	382;350	ENSP00000295213:H382L;ENSP00000415309:H350L	ENSP00000295213:H382L	H	+	2	0	SPATA18	52639782	1.000000	0.71417	0.797000	0.32132	0.011000	0.07611	7.645000	0.83430	2.097000	0.63578	0.533000	0.62120	CAT		0.383	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		7	204	0	0	0	1	0	7	204					T	52945025	A	T	52945025	3	4	46	1	0	0	0	0	1	0	0	0	15002	217	8	5	1175	5	SPATA18	4	52945025	Missense_Mutation	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		52945025	138209251	2	888											
FAM13A	10144	broad.mit.edu	37	4	89912157	89912157	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:89912157T>C	ENST00000264344.5	-	4	779	c.572A>G	c.(571-573)aAt>aGt	p.N191S	FAM13A_ENST00000515600.1_Missense_Mutation_p.N191S|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.N191S	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	191	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTGGCGAGATTGTGAACATT	0.423																																						uc003hse.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(571-573)aAt>aGt		Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.							153	134	140					4																	89912157		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89912157T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.572A>G	4.37:g.89912157T>C	ENSP00000264344:p.Asn191Ser		Somatic				FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Missense_Mutation_p.N5S	p.N191S	NM_014883	NP_055698	WXS	Illumina GAIIx	Phase_I	O94988	FA13A_HUMAN			3	780	-			191			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.572A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005008	0.35415	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600	T;T;T	0.30182	1.54;1.54;1.54	4.51	4.51	0.55191	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.057988	0.64402	D	0.000003	T	0.52565	0.1742	M	0.80508	2.5	0.53688	D	0.999978	P;D	0.63046	0.756;0.992	P;P	0.59056	0.587;0.851	T	0.57900	-0.7731	9	.	.	.	.	14.8763	0.70496	0.0:0.0:0.0:1.0	.	191;191	Q6P521;O94988	.;FA13A_HUMAN	S	191	ENSP00000264344:N191S;ENSP00000426517:N191S;ENSP00000422345:N191S	.	N	-	2	0	FAM13A	90131180	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.503000	0.45407	2.252000	0.74401	0.533000	0.62120	AAT		0.423	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			5	141	0	0	0	1	0	5	141					C	89912157	T	C	89912157	3	2	46	1	0	0	0	0	1	0	0	0	5452	1493	52	3	2616	3	FAM13A	4	89912157	Missense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	36967132	89912157	101242119	3	889											
PDHA2	5161	broad.mit.edu	37	4	96761700	96761700	+	Silent	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:96761700C>T	ENST00000295266.4	+	1	462	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	133					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GATCCATTCTCGCAGAGCTGA	0.517																																						uc003htr.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(397-399)ctC>ctT		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						99	90	93					4																	96761700		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761700C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.399C>T	4.37:g.96761700C>T			Somatic					p.L133L	NM_005390	NP_005381	WXS	Illumina GAIIx	Phase_I	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	462	+		Hepatocellular(203;0.114)	133					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.399C>T	CCDS3644.1																																																																																				0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			10	91	0	0	0	1	0	10	91					T	96761700	C	T	96761700	2	4	46	1	0	0	0	0	0	0	0	1	11665	871	31	1		1	PDHA2	4	96761700	Silent	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	6849543	96761700	94392576	4	890											
STK31	56164	broad.mit.edu	37	7	23792452	23792452	+	Splice_Site	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:23792452G>A	ENST00000355870.3	+	9	1252		c.e9+1		STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000354639.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGAAATGAGGTAGGTAAAAG	0.303																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.e9+1		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							56	56	56					7																	23792452		2203	4300	6503	SO:0001630	splice_region_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792452G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1133+1G>A	7.37:g.23792452G>A			Somatic				STK31_uc003swt.4_Splice_Site_p.R355_splice|STK31_uc011jze.2_Splice_Site_p.R378_splice|STK31_uc010kuq.3_Splice_Site_p.R355_splice	p.R378_splice	NM_031414	NP_116562	WXS	Illumina GAIIx	Phase_I	Q9BXU1	STK31_HUMAN			9	1200	+			378					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Splice_Site	SNP	ENST00000355870.3	37	c.1133_splice	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681029	0.29872	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.002	0.64439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK31	23758977	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	5.032000	0.64140	2.451000	0.82905	0.591000	0.81541	.		0.303	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	Intron	3	46	0	0	0	1	0	3	46					A	23792452	G	A	23792452	5	1	46	1	0	0	0	0	0	0	1	0	15295	1275	44	2	1168	2	STK31	7	23792452	Splice_Site	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		23792452	135346211	5	891											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	55	0	0	0	1	0	35	55					T	140453136	A	T	140453136	3	4	46	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08	116660684	140453136	18685527	6	892											
COL15A1	1306	broad.mit.edu	37	9	101829274	101829274	+	Silent	SNP	A	A	G			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr9:101829274A>G	ENST00000375001.3	+	40	4185	c.3762A>G	c.(3760-3762)ttA>ttG	p.L1254L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1254	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGCATTCTTATCTTCCCATT	0.463																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(3760-3762)ttA>ttG		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							159	136	144					9																	101829274		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101829274A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3762A>G	9.37:g.101829274A>G			Somatic					p.L1254L	NM_001855	NP_001846	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			39	3968	+		Acute lymphoblastic leukemia(62;0.0562)	1254			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.3762A>G	CCDS35081.1																																																																																				0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	138	0	0	0	1	0	4	138					G	101829274	A	G	101829274	2	3	46	1	0	0	0	0	0	0	0	1	3672	446	16	3		3	COL15A1	9	101829274	Silent	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		101829274	39384157	7	893											
COPB1	1315	broad.mit.edu	37	11	14520418	14520418	+	Silent	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:14520418T>C	ENST00000249923.3	-	2	357	c.57A>G	c.(55-57)gaA>gaG	p.E19E	PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Silent_p.E19E	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	19					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGATGGTGGTTCTGAATCCA	0.313																																						uc001mli.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(55-57)gaA>gaG		Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 1, mRNA.							87	86	87					11																	14520418		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity	g.chr11:14520418T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.57A>G	11.37:g.14520418T>C			Somatic				COPB1_uc001mlg.2_Silent_p.E19E|COPB1_uc001mlh.2_Silent_p.E19E|PSMA1_uc010rcp.1_Non-coding_Transcript	p.E19E	NM_016451	NP_057535	WXS	Illumina GAIIx	Phase_I	P53618	COPB_HUMAN			1	364	-			19					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.57A>G	CCDS7815.1																																																																																				0.313	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		28	52	0	0	0	1	0	28	52					C	14520418	T	C	14520418	2	2	46	1	0	0	0	0	0	0	0	1	3728	1722	60	3		3	COPB1	11	14520418	Silent	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08		14520418	120486098	8	894											
SLC8A3	6547	broad.mit.edu	37	14	70634706	70634706	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr14:70634706G>A	ENST00000381269.2	-	2	1187	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC8A3_ENST00000356921.2_Missense_Mutation_p.A145V|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A145V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A145V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A145V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	145					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATCTCAGGAGCAGAGGAACC	0.488																																						uc001xly.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(433-435)gCt>gTt		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.							100	92	95					14																	70634706		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634706G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.434C>T	14.37:g.70634706G>A	ENSP00000370669:p.Ala145Val		Somatic				SLC8A3_uc001xlw.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlx.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlz.3_Missense_Mutation_p.A145V|SLC8A3_uc010ara.3_Non-coding_Transcript	p.A145V	NM_183002	NP_892114	WXS	Illumina GAIIx	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	1	1188	-			145					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.434C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896913	0.72639	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.48	5.48	0.80851	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	H	0.94964	3.605	0.80722	D	1	D;D;D;D	0.64830	0.991;0.993;0.994;0.994	D;D;P;P	0.69307	0.937;0.963;0.895;0.895	D	0.89170	0.3536	10	0.87932	D	0	.	19.3613	0.94440	0.0:0.0:1.0:0.0	.	145;145;145;145	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	V	145	ENSP00000349392:A145V;ENSP00000370669:A145V;ENSP00000350560:A145V;ENSP00000436688:A145V;ENSP00000433531:A145V	ENSP00000349392:A145V	A	-	2	0	SLC8A3	69704459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.860000	0.99555	2.573000	0.86826	0.650000	0.86243	GCT		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			4	74	0	0	0	1	0	4	74					A	70634706	G	A	70634706	3	1	46	1	0	0	0	0	1	0	0	0	14708	971	34	2	2488	2	SLC8A3	14	70634706	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		70634706	36714834	9	895											
CHRM5	1133	broad.mit.edu	37	15	34355399	34355399	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:34355399C>A	ENST00000383263.5	+	3	1151	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	CHRM5_ENST00000557872.1_Missense_Mutation_p.L161I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	161					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTCCTTCATCCTCTGGGCCCC	0.547																																						uc001zhk.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(481-483)Ctc>Atc		Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						101	102	102					15																	34355399		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355399C>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.481C>A	15.37:g.34355399C>A	ENSP00000372750:p.Leu161Ile		Somatic				CHRM5_uc001zhl.1_Missense_Mutation_p.L161I|CHRM5_uc021sir.1_Missense_Mutation_p.L161I	p.L161I	NM_012125	NP_036257	WXS	Illumina GAIIx	Phase_I	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	2	1151	+		all_lung(180;1.76e-08)	161					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.481C>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999279	0.54147	.	.	ENSG00000184984	ENST00000383263	T	0.72051	-0.62	5.54	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.071597	0.53938	D	0.000046	T	0.71213	0.3313	N	0.20328	0.56	0.49130	D	0.999759	D	0.56035	0.974	D	0.74348	0.983	T	0.71945	-0.4439	10	0.59425	D	0.04	-19.4063	10.4296	0.44400	0.0:0.8026:0.0:0.1974	.	161	P08912	ACM5_HUMAN	I	161	ENSP00000372750:L161I	ENSP00000372750:L161I	L	+	1	0	CHRM5	32142691	0.384000	0.25164	1.000000	0.80357	0.998000	0.95712	0.343000	0.19944	2.880000	0.98712	0.650000	0.86243	CTC		0.547	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			4	117	0	0	0	1	0	4	117					A	34355399	C	A	34355399	3	1	46	1	0	0	0	0	1	0	0	0	3380	681	24	4	483	4	CHRM5	15	34355399	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08		34355399	68175993	10	896											
CLPX	10845	broad.mit.edu	37	15	65459053	65459053	+	Silent	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:65459053C>T	ENST00000300107.3	-	4	617	c.429G>A	c.(427-429)aaG>aaA	p.K143K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	143					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTATGCTTTTCTTTGAGTCTG	0.393																																						uc002aom.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(427-429)aaG>aaA		Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.							170	165	166					15																	65459053		2202	4299	6501	SO:0001819	synonymous_variant	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65459053C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.429G>A	15.37:g.65459053C>T			Somatic				CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Silent_p.K143K	p.K143K	NM_006660	NP_006651	WXS	Illumina GAIIx	Phase_I	O76031	CLPX_HUMAN			3	501	-			143					A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	c.429G>A	CCDS10202.1																																																																																				0.393	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		3	110	0	0	0	1	0	3	110					T	65459053	C	T	65459053	2	4	46	1	0	0	0	0	0	0	0	1	3556	912	32	2		2	CLPX	15	65459053	Silent	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	31103654	65459053	37072339	11	897											
ST8SIA2	8128	broad.mit.edu	37	15	93007535	93007535	+	Silent	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:93007535T>C	ENST00000268164.3	+	6	1285	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	ST8SIA2_ENST00000539113.1_Silent_p.L329L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	350					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|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)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACCATGCCCTTGGAGTTTAA	0.577																																						uc002bra.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1048-1050)Ttg>Ctg		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.							95	88	90					15																	93007535		2198	4298	6496	SO:0001819	synonymous_variant	8128				N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007535T>C	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1048T>C	15.37:g.93007535T>C			Somatic				ST8SIA2_uc002brb.3_Silent_p.L329L	p.L350L	NM_006011	NP_006002	WXS	Illumina GAIIx	Phase_I	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		5	1203	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		350					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1048T>C	CCDS10372.1																																																																																				0.577	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		3	172	0	0	0	1	0	3	172					C	93007535	T	C	93007535	2	2	46	1	0	0	0	0	0	0	0	1	15231	1606	56	3		3	ST8SIA2	15	93007535	Silent	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	27548482	93007535	9523857	12	898											
ABR	29	broad.mit.edu	37	17	995059	995059	+	Missense_Mutation	SNP	G	G	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:995059G>T	ENST00000302538.5	-	4	523	c.377C>A	c.(376-378)aCc>aAc	p.T126N	ABR_ENST00000291107.2_Missense_Mutation_p.T89N|ABR_ENST00000544583.2_Missense_Mutation_p.T80N|ABR_ENST00000574437.1_Missense_Mutation_p.T80N	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	126	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)		GGGCTGGGAGGTGGTGGCGGT	0.572																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.3																			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.(376-378)aCc>aAc		Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.							138	131	134					17																	995059		2203	4300	6503	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|Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr17:995059G>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.377C>A	17.37:g.995059G>T	ENSP00000303909:p.Thr126Asn		Somatic				ABR_uc002fse.3_Missense_Mutation_p.T80N|ABR_uc002fsg.3_Missense_Mutation_p.T89N|ABR_uc002fsh.1_Missense_Mutation_p.T10N|ABR_uc010cjq.1_Missense_Mutation_p.T138N	p.T126N	NM_021962	NP_001153218	WXS	Illumina GAIIx	Phase_I	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	3	487	-			126			DH.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.377C>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395796	0.96009	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000382259	T;T;T	0.21932	2.01;2.02;1.98	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.045312	0.85682	D	0.000000	T	0.49287	0.1548	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.995;0.999;0.994;0.99	T	0.41592	-0.9500	10	0.87932	D	0	.	19.1586	0.93522	0.0:0.0:1.0:0.0	.	80;10;89;126	B3KW89;Q6ZT60;Q12979-2;Q12979	.;.;.;ABR_HUMAN	N	126;80;89;10	ENSP00000303909:T126N;ENSP00000442048:T80N;ENSP00000291107:T89N	ENSP00000291107:T89N	T	-	2	0	ABR	941809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.912000	0.87465	2.873000	0.98535	0.563000	0.77884	ACC		0.572	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			19	203	0	0	0	1	0	19	203					T	995059	G	T	995059	3	4	46	1	0	0	0	0	1	0	0	0	99	1261	44	4	2282	4	ABR	17	995059	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		995059	80200151	13	899											
MYH8	4626	broad.mit.edu	37	17	10318635	10318635	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:10318635C>T	ENST00000403437.2	-	8	809	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	239	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATTCCTCACAGTTTTGGCA	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(715-717)Gtg>Atg		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							136	139	138					17																	10318635		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318635C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.715G>A	17.37:g.10318635C>T	ENSP00000384330:p.Val239Met		Somatic				AK097500_uc002gml.1_Intron	p.V239M	NM_002472	NP_002463	WXS	Illumina GAIIx	Phase_I	P13535	MYH8_HUMAN			7	810	-			239			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.715G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569566	0.65765	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88509	-2.39	4.14	4.14	0.48551	Myosin head, motor domain (3);	0.000000	0.37577	U	0.002030	D	0.94666	0.8280	M	0.90252	3.1	0.47511	D	0.99944	P	0.41978	0.767	P	0.56163	0.793	D	0.95916	0.8927	10	0.87932	D	0	.	16.9389	0.86210	0.0:1.0:0.0:0.0	.	239	P13535	MYH8_HUMAN	M	239	ENSP00000384330:V239M	ENSP00000252173:V239M	V	-	1	0	MYH8	10259360	0.905000	0.30787	0.950000	0.38849	0.916000	0.54674	1.882000	0.39648	2.308000	0.77769	0.591000	0.81541	GTG		0.478	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		60	85	0	0	0	1	0	60	85					T	10318635	C	T	10318635	3	4	46	1	0	0	0	0	1	0	0	0	10041	478	17	2	5230	2	MYH8	17	10318635	Missense_Mutation	SNP	C	TCGA-CE-A3ME-01A-11D-A20C-08	9323576	10318635	70876575	14	900											
MED1	5469	broad.mit.edu	37	17	37563979	37563979	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:37563979T>A	ENST00000300651.6	-	17	4718	c.4495A>T	c.(4495-4497)Aag>Tag	p.K1499*	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTTGTGCTTCTTATGTTTC	0.438										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.4																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4495-4497)Aag>Tag		Homo sapiens mediator complex subunit 1 (MED1), mRNA.							115	103	107					17																	37563979		2203	4300	6503	SO:0001587	stop_gained	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563979T>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4495A>T	17.37:g.37563979T>A	ENSP00000300651:p.Lys1499*	HNSCC(31;0.082)	Somatic				MED1_uc010wee.2_Nonsense_Mutation_p.K1327*|MED1_uc002hru.2_Intron	p.K1499*	NM_004774	NP_004765	WXS	Illumina GAIIx	Phase_I	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	16	4707	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1499			Lys-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	ENST00000300651.6	37	c.4495A>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	41	8.936590	0.99008	.	.	ENSG00000125686	ENST00000300651	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2847	14.9521	0.71083	0.0:0.0:0.0:1.0	.	.	.	.	X	1499	.	ENSP00000300651:K1499X	K	-	1	0	MED1	34817505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.174000	0.68829	0.459000	0.35465	AAG		0.438	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		4	35	0	0	0	1	0	4	35					A	37563979	T	A	37563979	4	1	46	1	0	0	0	0	0	1	0	0	9425	1792	62	5	254	5	MED1	17	37563979	Nonsense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08	27245344	37563979	43631231	15	901											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						uc002mkp.3																			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.(982-984)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G			Somatic					p.P328P	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	1188	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	100	0	0	0	1	0	3	100					G	9090831	A	G	9090831	2	3	46	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-CE-A3ME-01A-11D-A20C-08		9090831	50038152	16	902											
MAST1	22983	broad.mit.edu	37	19	12962967	12962967	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:12962967G>A	ENST00000251472.4	+	9	954	c.915G>A	c.(913-915)gcG>gcA	p.A305A	MAST1_ENST00000591495.1_Silent_p.A301A	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTGGAGGCGGCCGAAGGAC	0.652																																						uc002mvm.3																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(913-915)gcG>gcA		Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.							57	64	62					19																	12962967		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12962967G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.915G>A	19.37:g.12962967G>A			Somatic				MAST1_uc021upp.1_Silent_p.A129A	p.A305A	NM_014975	NP_055790	WXS	Illumina GAIIx	Phase_I	Q9Y2H9	MAST1_HUMAN			8	1043	+			305						Silent	SNP	ENST00000251472.4	37	c.915G>A	CCDS32921.1																																																																																				0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		7	170	0	0	0	1	0	7	170					A	12962967	G	A	12962967	2	1	46	1	0	0	0	0	0	0	0	1	9324	1103	39	1		1	MAST1	19	12962967	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	3872136	12962967	46166016	17	903											
SNRNP70	6625	broad.mit.edu	37	19	49589800	49589800	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:49589800G>A	ENST00000598441.1	+	2	353	c.129G>A	c.(127-129)ccG>ccA	p.P43P	SNRNP70_ENST00000221448.5_Silent_p.P43P			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	43					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GCATTGCGCCGTACATTCGAG	0.532																																						uc002pmk.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(127-129)ccG>ccA		Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.							219	212	215					19																	49589800		2203	4300	6503	SO:0001819	synonymous_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding	g.chr19:49589800G>A		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.129G>A	19.37:g.49589800G>A			Somatic				SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript	p.P43P	NM_003089	NP_003080	WXS	Illumina GAIIx	Phase_I	P08621	RU17_HUMAN			1	568	+			43					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Silent	SNP	ENST00000598441.1	37	c.129G>A	CCDS12756.1																																																																																				0.532	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		6	429	0	0	0	1	0	6	429					A	49589800	G	A	49589800	2	1	46	1	0	0	0	0	0	0	0	1	14858	1132	40	1		1	SNRNP70	19	49589800	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	36626833	49589800	9539183	18	904											
CABIN1	23523	broad.mit.edu	37	22	24445595	24445595	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr22:24445595G>A	ENST00000398319.2	+	7	954	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.R190Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.R190Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	190					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R190L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGGATTGCCGGTACAGCAAA	0.502																																						uc002zzi.1																			1	Substitution - Missense(1)	p.R190L(2)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(568-570)cGg>cAg		Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.							110	108	109					22																	24445595		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24445595G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.569G>A	22.37:g.24445595G>A	ENSP00000381364:p.Arg190Gln		Somatic				CABIN1_uc021wnc.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R190Q|CABIN1_uc010guk.1_Missense_Mutation_p.R145Q|CABIN1_uc002zzk.2_Missense_Mutation_p.R145Q	p.R190Q	NM_012295	NP_036427	WXS	Illumina GAIIx	Phase_I	Q9Y6J0	CABIN_HUMAN			6	696	+			190					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.569G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791200	0.50102	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.60548	0.53;0.18;1.2;0.53;0.18	5.26	4.24	0.50183	Tetratricopeptide-like helical (1);	0.338397	0.35151	N	0.003408	T	0.30541	0.0768	N	0.08118	0	0.80722	D	1	B;B;B;B	0.18968	0.001;0.032;0.014;0.017	B;B;B;B	0.09377	0.001;0.003;0.004;0.002	T	0.16335	-1.0406	10	0.12103	T	0.63	.	8.3701	0.32410	0.0833:0.0:0.7498:0.1669	.	145;190;190;190	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	Q	145;190;190;145;190;190	ENSP00000394209:R145Q;ENSP00000263119:R190Q;ENSP00000384694:R190Q;ENSP00000412389:R145Q;ENSP00000381364:R190Q	ENSP00000263119:R190Q	R	+	2	0	CABIN1	22775595	0.667000	0.27484	0.984000	0.44739	0.977000	0.68977	1.753000	0.38359	2.638000	0.89438	0.502000	0.49764	CGG		0.502	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		4	168	0	0	0	1	0	4	168					A	24445595	G	A	24445595	3	1	46	1	0	0	0	0	1	0	0	0	2528	1116	39	1	591	1	CABIN1	22	24445595	Missense_Mutation	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08		24445595	26858971	19	905											
MAGEA6	4105	broad.mit.edu	37	X	151869749	151869749	+	Missense_Mutation	SNP	T	T	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:151869749T>A	ENST00000329342.5	+	3	664	c.439T>A	c.(439-441)Ttt>Att	p.F147I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	147	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTACTTCTTTCCTGTGAT	0.527																																						uc004ffq.1																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(439-441)Ttt>Att		Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 1, mRNA.							158	141	147					X																	151869749		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869749T>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.439T>A	X.37:g.151869749T>A	ENSP00000329199:p.Phe147Ile		Somatic				MAGEA6_uc004ffr.1_Missense_Mutation_p.F147I|MAGEA6_uc022chf.1_Missense_Mutation_p.F147I	p.F147I	NM_005363	NP_787064	WXS	Illumina GAIIx	Phase_I	P43360	MAGA6_HUMAN			2	633	+	Acute lymphoblastic leukemia(192;6.56e-05)		147			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.439T>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.987490	0.35036	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.06933	3.24;3.24;3.24	0.605	0.605	0.17553	.	.	.	.	.	T	0.33760	0.0874	M	0.93550	3.43	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05370	-1.0889	8	0.87932	D	0	.	.	.	.	.	147	P43360	MAGA6_HUMAN	I	147	ENSP00000329199:F147I;ENSP00000403303:F147I;ENSP00000401806:F147I	ENSP00000329199:F147I	F	+	1	0	MAGEA6	151620405	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.306000	0.19279	0.476000	0.27440	0.151000	0.16131	TTT		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		4	197	0	0	0	1	0	4	197					A	151869749	T	A	151869749	3	1	46	1	0	0	0	0	1	0	0	0	9170	1609	56	5	441	5	MAGEA6	23	151869749	Missense_Mutation	SNP	T	TCGA-CE-A3ME-01A-11D-A20C-08		151869749	3400811	20	906											
L1CAM	3897	broad.mit.edu	37	X	153129444	153129444	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:153129444G>A	ENST00000370060.1	-	26	3540	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	L1CAM_ENST00000370057.3_Silent_p.F1117F|L1CAM_ENST00000370055.1_Silent_p.F1112F|L1CAM_ENST00000361699.4_Silent_p.F1117F|L1CAM_ENST00000538883.1_Silent_p.F1119F|L1CAM_ENST00000361981.3_Silent_p.F1112F|L1CAM_ENST00000543994.1_Silent_p.F1119F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1117				GF -> WLC (in Ref. 13; no nucleotide entry). {ECO:0000305}.	axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					CCTCAGTGGCGAAGCCAGCAG	0.632																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(3349-3351)ttC>ttT		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							62	52	56					X																	153129444		2203	4299	6502	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129444G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3351C>T	X.37:g.153129444G>A			Somatic				L1CAM_uc004fjc.3_Silent_p.F1117F|L1CAM_uc010nuo.3_Silent_p.F1112F	p.F1117F	NM_000425	NP_000416	WXS	Illumina GAIIx	Phase_I	P32004	L1CAM_HUMAN			24	3459	-	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)		1117	GF -> WLC (in Ref. 11).				A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3351C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	51	0	0	0	1	0	3	51					A	153129444	G	A	153129444	2	1	46	1	0	0	0	0	0	0	0	1	8588	1049	37	1		1	L1CAM	23	153129444	Silent	SNP	G	TCGA-CE-A3ME-01A-11D-A20C-08	1259695	153129444	2141116	21	907											
NRXN1	9378	broad.mit.edu	37	2	50765449	50765449	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr2:50765449C>A	ENST00000406316.2	-	10	3561	c.2085G>T	c.(2083-2085)tgG>tgT	p.W695C	NRXN1_ENST00000402717.3_Missense_Mutation_p.W687C|NRXN1_ENST00000404971.1_Missense_Mutation_p.W735C|NRXN1_ENST00000405472.3_Missense_Mutation_p.W687C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.W695C|NRXN1_ENST00000406859.3_Missense_Mutation_p.W695C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	695	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			CATATCTGTTCCACCCATCCC	0.488																																						uc021vhg.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.(2203-2205)tgG>tgT		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							209	206	207					2																	50765449		2046	4210	6256	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.chr2:50765449C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2085G>T	2.37:g.50765449C>A	ENSP00000384311:p.Trp695Cys		Somatic				NRXN1_uc002rxb.4_Missense_Mutation_p.W367C|NRXN1_uc021vhh.1_Missense_Mutation_p.W695C|NRXN1_uc021vhi.1_Missense_Mutation_p.W731C|NRXN1_uc021vhj.1_Missense_Mutation_p.W691C|NRXN1_uc002rxc.1_Non-coding_Transcript	p.W735C	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	3126	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	695			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2205G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290299	0.80914	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	D	0.94503	0.7711	10	0.72032	D	0.01	.	18.7326	0.91741	0.0:1.0:0.0:0.0	.	735;695;687	Q9ULB1-3;F8WB18;A7E294	.;.;.	C	735;695;687;695;736;687;695	ENSP00000385142:W735C;ENSP00000384311:W695C;ENSP00000434015:W687C;ENSP00000385017:W695C;ENSP00000385434:W687C;ENSP00000385681:W695C	ENSP00000385017:W695C	W	-	3	0	NRXN1	50618953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.649000	0.89929	0.650000	0.86243	TGG		0.488	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			9	197	0	0	0	1	0	9	197					A	50765449	C	A	50765449	3	1	47	1	0	0	0	0	1	0	0	0	10665	856	30	4	2757	4	NRXN1	2	50765449	Missense_Mutation	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		50765449	192433924	1	908											
RAF1	5894	broad.mit.edu	37	3	12645671	12645671	+	Silent	SNP	G	G	A			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr3:12645671G>A	ENST00000251849.4	-	7	1237	c.798C>T	c.(796-798)gtC>gtT	p.V266V	RAF1_ENST00000442415.2_Silent_p.V266V|RAF1_ENST00000542177.1_Silent_p.V185V|RAF1_ENST00000534997.1_Silent_p.V51V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	266					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|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)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|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 extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGTGGTGCTGACCATGTGGA	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													uc003bxf.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(796-798)gtC>gtT		Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	Sorafenib(DB00398)						147	132	137					3																	12645671		2203	4300	6503	SO:0001819	synonymous_variant	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12645671G>A	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.798C>T	3.37:g.12645671G>A			Somatic				RAF1_uc011aut.2_Silent_p.V51V|RAF1_uc011auu.2_Silent_p.V184V	p.V266V	NM_002880	NP_002871	WXS	Illumina GAIIx	Phase_I	P04049	RAF1_HUMAN			6	1213	-			266					B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	ENST00000251849.4	37	c.798C>T	CCDS2612.1																																																																																				0.517	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		7	78	0	0	0	1	0	7	78					A	12645671	G	A	12645671	2	1	47	1	0	0	0	0	0	0	0	1	13002	1277	45	2		2	RAF1	3	12645671	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		12645671	185376759	2	909											
GPR125	166647	broad.mit.edu	37	4	22517165	22517165	+	Silent	SNP	G	G	A			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr4:22517165G>A	ENST00000334304.5	-	1	512	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GPR125_ENST00000502482.1_Silent_p.N81N	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	81					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGACCGTGCGGTTGGGCAGAG	0.687																																						uc003gqm.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(241-243)aaC>aaT		Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.							30	32	31					4																	22517165		2202	4300	6502	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22517165G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.243C>T	4.37:g.22517165G>A			Somatic				GPR125_uc003gqo.3_Silent_p.N81N	p.N81N	NM_145290	NP_660333	WXS	Illumina GAIIx	Phase_I	Q8IWK6	GP125_HUMAN			0	508	-		Breast(46;0.198)	81					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.243C>T	CCDS33964.1																																																																																				0.687	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	12	0	0	0	1	0	4	12					A	22517165	G	A	22517165	2	1	47	1	0	0	0	0	0	0	0	1	6639	1252	44	2		2	GPR125	4	22517165	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		22517165	168637111	3	910											
LRGUK	136332	broad.mit.edu	37	7	133821786	133821786	+	Missense_Mutation	SNP	A	A	T			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr7:133821786A>T	ENST00000285928.2	+	2	377	c.308A>T	c.(307-309)gAt>gTt	p.D103V	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	103						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAGGAATTTGATGGGGTCCTG	0.428																																						uc003vrm.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(307-309)gAt>gTt		Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.							49	50	49					7																	133821786		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133821786A>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.308A>T	7.37:g.133821786A>T	ENSP00000285928:p.Asp103Val		Somatic					p.D103V	NM_144648	NP_653249	WXS	Illumina GAIIx	Phase_I	Q96M69	LRGUK_HUMAN			1	324	+			103					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.308A>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399143	0.62177	.	.	ENSG00000155530	ENST00000285928	T	0.38722	1.12	4.99	4.99	0.66335	.	0.191966	0.36303	N	0.002668	T	0.62804	0.2458	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.76575	0.988	T	0.67067	-0.5764	10	0.72032	D	0.01	-23.6539	13.6928	0.62556	1.0:0.0:0.0:0.0	.	103	Q96M69	LRGUK_HUMAN	V	103	ENSP00000285928:D103V	ENSP00000285928:D103V	D	+	2	0	LRGUK	133472326	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	6.065000	0.71176	1.881000	0.54492	0.528000	0.53228	GAT		0.428	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		9	16	0	0	0	1	0	9	16					T	133821786	A	T	133821786	3	4	47	1	0	0	0	0	1	0	0	0	8943	333	12	5	314	5	LRGUK	7	133821786	Missense_Mutation	SNP	A	TCGA-CE-A482-01A-11D-A23U-08		133821786	25316877	4	911											
DIP2C	22982	broad.mit.edu	37	10	375466	375466	+	Silent	SNP	G	G	T	rs367686379		TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr10:375466G>T	ENST00000280886.6	-	30	3747	c.3660C>A	c.(3658-3660)gcC>gcA	p.A1220A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1220						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1220A(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACTGACTCACGGCAAGAAGCC	0.562																																						uc001ifp.3																			1	Substitution - coding silent(1)	p.A1220A(2)	kidney(1)	breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3658-3660)gcC>gcA		Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.							60	52	55					10																	375466		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:375466G>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3660C>A	10.37:g.375466G>T			Somatic					p.A1220A	NM_014974	NP_055789	WXS	Illumina GAIIx	Phase_I	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	29	3750	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1220					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.3660C>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	3.295	-0.144033	0.06627	.	.	ENSG00000151240	ENST00000434695	.	.	.	5.84	-4.66	0.03329	.	.	.	.	.	T	0.63177	0.2489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62378	-0.6867	4	.	.	.	-28.521	14.5995	0.68429	0.524:0.0:0.476:0.0	.	.	.	.	S	26	.	.	R	-	1	0	DIP2C	365466	0.855000	0.29742	0.502000	0.27614	0.075000	0.17131	0.043000	0.13971	-1.173000	0.02758	-0.781000	0.03364	CGT		0.562	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		9	20	0	0	0	1	0	9	20					T	375466	G	T	375466	2	4	47	1	0	0	0	0	0	0	0	1	4529	1103	39	4		4	DIP2C	10	375466	Silent	SNP	G	TCGA-CE-A482-01A-11D-A23U-08		375466	135159281	5	912											
ZNF646	9726	broad.mit.edu	37	16	31092931	31092931	+	Silent	SNP	C	C	T			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chr16:31092931C>T	ENST00000394979.2	+	1	5709	c.5286C>T	c.(5284-5286)acC>acT	p.T1762T	ZNF646_ENST00000300850.5_Silent_p.T1762T			O15015	ZN646_HUMAN	zinc finger protein 646	1762					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCCTTTCACCTGCCCCCATT	0.701																																						uc002eap.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(5284-5286)acC>acT		Homo sapiens zinc finger protein 646 (ZNF646), mRNA.							17	20	19					16																	31092931		2191	4286	6477	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092931C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5286C>T	16.37:g.31092931C>T			Somatic				ZNF646_uc021tgu.1_Silent_p.T1762T	p.T1762T	NM_014699	NP_055514	WXS	Illumina GAIIx	Phase_I	O15015	ZN646_HUMAN			1	5575	+			1762					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.5286C>T																																																																																					0.701	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		7	25	0	0	0	1	0	7	25					T	31092931	C	T	31092931	2	4	47	1	0	0	0	0	0	0	0	1	18059	668	24	2		2	ZNF646	16	31092931	Silent	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		31092931	59261822	6	913											
TCEAL6	158931	broad.mit.edu	37	X	101396186	101396186	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A482-01A-11D-A23U-08	TCGA-CE-A482-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36a7dd2c-a840-41b7-8b20-5b5d7fe9f20a	cd98f940-450f-4fe6-8c45-d6aa526e6494	g.chrX:101396186C>T	ENST00000372774.3	-	3	367	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	TCEAL6_ENST00000372773.1_Missense_Mutation_p.G40R	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	40	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						tctgtcttcccctccgcgtct	0.507																																						uc004eiq.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(118-120)Ggg>Agg		Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.							122	97	105					X																	101396186		2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396186C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.118G>A	X.37:g.101396186C>T	ENSP00000361860:p.Gly40Arg		Somatic				TCEAL6_uc022cas.1_Missense_Mutation_p.G40R	p.G40R	NM_001006938	NP_001006939	WXS	Illumina GAIIx	Phase_I	Q6IPX3	TCAL6_HUMAN			2	279	-			40			Glu-rich.		Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.118G>A	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502632	0.44455	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.25912	1.77;1.77	2.47	2.47	0.30058	.	1.068980	0.07383	N	0.887717	T	0.41650	0.1168	M	0.64567	1.98	0.09310	N	1	D	0.57257	0.979	P	0.56563	0.801	T	0.22871	-1.0204	10	0.44086	T	0.13	.	10.1944	0.43045	0.0:1.0:0.0:0.0	.	40	Q6IPX3-2	.	R	40	ENSP00000361860:G40R;ENSP00000361859:G40R	ENSP00000361859:G40R	G	-	1	0	TCEAL6	101282842	0.002000	0.14202	0.001000	0.08648	0.222000	0.24845	0.113000	0.15499	1.507000	0.48752	0.468000	0.43344	GGG		0.507	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		26	42	0	0	0	1	0	26	42					T	101396186	C	T	101396186	3	4	47	1	0	0	0	0	1	0	0	0	15672	623	22	2	437	2	TCEAL6	23	101396186	Missense_Mutation	SNP	C	TCGA-CE-A482-01A-11D-A23U-08		101396186	53874374	7	914											
PINK1	65018	broad.mit.edu	37	1	20975019	20975019	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:20975019T>C	ENST00000321556.4	+	6	1239	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTGGTGATCGCAGATTTT	0.602																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14						c.(1144-1146)aTc>aCc		Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.							54	49	51					1																	20975019		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20975019T>C	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1145T>C	1.37:g.20975019T>C	ENSP00000364204:p.Ile382Thr		Somatic				PINK1_uc001bdn.3_Missense_Mutation_p.I75T	p.I382T	NM_032409	NP_115785	WXS	Illumina GAIIx	Phase_I	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	1239	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	382			Protein kinase.		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.1145T>C	CCDS211.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485411	0.84854	.	.	ENSG00000158828	ENST00000321556	T	0.79653	-1.29	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147598	0.64402	D	0.000012	D	0.91656	0.7363	M	0.94142	3.5	0.58432	D	0.999998	D;D	0.64830	0.994;0.993	P;D	0.65140	0.908;0.932	D	0.93496	0.6840	10	0.87932	D	0	-12.4003	13.214	0.59844	0.0:0.0:0.0:1.0	.	75;382	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	T	382	ENSP00000364204:I382T	ENSP00000364204:I382T	I	+	2	0	PINK1	20847606	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.136000	0.77285	2.371000	0.80710	0.533000	0.62120	ATC		0.602	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		9	25	0	0	0	1	0	9	25					C	20975019	T	C	20975019	3	2	48	1	0	0	0	0	1	0	0	0	11932	1435	50	3	1167	3	PINK1	1	20975019	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		20975019	228275602	1	915											
DPYD	1806	broad.mit.edu	37	1	97771737	97771737	+	Silent	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:97771737C>T	ENST00000370192.3	-	17	2275	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	725					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCTTACCTTCCTTTGCAGCTC	0.438																																						uc001drv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2173-2175)aaG>aaA		Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	Capecitabine(DB01101)|Enfuvirtide(DB00109)						216	220	219					1																	97771737		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	g.chr1:97771737C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2175G>A	1.37:g.97771737C>T			Somatic					p.K725K	NM_000110	NP_000101	WXS	Illumina GAIIx	Phase_I	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	16	2312	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	725					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2175G>A	CCDS30777.1																																																																																				0.438	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		11	224	0	0	0	1	0	11	224					T	97771737	C	T	97771737	2	4	48	1	0	0	0	0	0	0	0	1	4745	680	24	2		2	DPYD	1	97771737	Silent	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	76796718	97771737	151478884	2	916											
SH2D2A	9047	broad.mit.edu	37	1	156779137	156779137	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr1:156779137A>G	ENST00000368199.3	-	7	1013	c.860T>C	c.(859-861)aTa>aCa	p.I287T	SH2D2A_ENST00000392306.2_Missense_Mutation_p.I297T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.I269T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	287	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATAGAAAGCTATGGGTTCATC	0.612																																						uc009wsh.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(889-891)aTa>aCa		Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.							102	106	105					1																	156779137		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779137A>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.860T>C	1.37:g.156779137A>G	ENSP00000357182:p.Ile287Thr		Somatic				SH2D2A_uc001fqc.1_Missense_Mutation_p.I259T|SH2D2A_uc001fqd.2_Missense_Mutation_p.I287T|SH2D2A_uc001fqe.2_Missense_Mutation_p.I269T|SH2D2A_uc010phs.1_Missense_Mutation_p.I287T	p.I297T	NM_001161441	NP_001154913	WXS	Illumina GAIIx	Phase_I	Q9NP31	SH22A_HUMAN			6	1030	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		287			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.890T>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388170	0.61956	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.70516	-0.42;-0.49;0.06	3.77	3.77	0.43336	.	0.413210	0.24407	N	0.038786	T	0.66489	0.2794	L	0.32530	0.975	0.32570	N	0.529975	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.66988	-0.5784	10	0.45353	T	0.12	-6.512	11.73	0.51730	1.0:0.0:0.0:0.0	.	297;269;287	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	287;269;297	ENSP00000357182:I287T;ENSP00000357181:I269T;ENSP00000376123:I297T	ENSP00000357181:I269T	I	-	2	0	SH2D2A	155045761	0.998000	0.40836	0.998000	0.56505	0.823000	0.46562	4.943000	0.63554	1.696000	0.51158	0.459000	0.35465	ATA		0.612	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		8	123	0	0	0	1	0	8	123					G	156779137	A	G	156779137	3	3	48	1	0	0	0	0	1	0	0	0	14232	449	16	3	317	3	SH2D2A	1	156779137	Missense_Mutation	SNP	A	TCGA-CE-A484-01A-11D-A23U-08	59007400	156779137	92471484	3	917											
ANKRD56	345079	broad.mit.edu	37	4	77817854	77817854	+	Silent	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr4:77817854G>A	ENST00000334306.2	-	1	1148	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	383																	AACGAATGCTGCGAAAGACAG	0.572																																						uc003hki.3																			0											c.(1147-1149)cgC>cgT		Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.							72	78	76					4																	77817854		2203	4300	6503	SO:0001819	synonymous_variant	345079							g.chr4:77817854G>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1149C>T	4.37:g.77817854G>A			Somatic					p.R383R	NM_001029870	NP_001025041	WXS	Illumina GAIIx	Phase_I	A6NEL2	ANR56_HUMAN			0	1149	-			383					B2RP29	Silent	SNP	ENST00000334306.2	37	c.1149C>T	CCDS34017.1																																																																																				0.572	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		35	58	0	0	0	1	0	35	58					A	77817854	G	A	77817854	2	1	48	1	0	0	0	0	0	0	0	1	682	1306	46	2		2	ANKRD56	4	77817854	Silent	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		77817854	113336422	4	918											
PPID	5481	broad.mit.edu	37	4	159644365	159644365	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr4:159644365C>T	ENST00000307720.3	-	1	183	c.76G>A	c.(76-78)Ggg>Agg	p.G26R		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	26	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)		CCTCGCTCCCCTCCGATGTCC	0.632																																						uc003iqc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(76-78)Ggg>Agg		Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.							60	55	56					4																	159644365		2203	4300	6503	SO:0001583	missense	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159644365C>T		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.76G>A	4.37:g.159644365C>T	ENSP00000303754:p.Gly26Arg		Somatic					p.G26R	NM_005038	NP_005029	WXS	Illumina GAIIx	Phase_I	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	0	188	-	all_hematologic(180;0.24)		26			PPIase cyclophilin-type.		B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	c.76G>A	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735011	0.69189	.	.	ENSG00000171497	ENST00000307720	T	0.23147	1.92	4.38	3.54	0.40534	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.41605	D	0.000844	T	0.34395	0.0896	M	0.83012	2.62	0.58432	D	0.999996	B	0.14012	0.009	B	0.22152	0.038	T	0.37244	-0.9714	10	0.62326	D	0.03	-1.0199	12.8371	0.57780	0.0:0.9187:0.0:0.0813	.	26	Q08752	PPID_HUMAN	R	26	ENSP00000303754:G26R	ENSP00000303754:G26R	G	-	1	0	PPID	159863815	0.995000	0.38212	0.992000	0.48379	0.995000	0.86356	6.148000	0.71788	1.449000	0.47699	0.655000	0.94253	GGG		0.632	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		17	12	0	0	0	1	0	17	12					T	159644365	C	T	159644365	3	4	48	1	0	0	0	0	1	0	0	0	12321	681	24	2	1076	2	PPID	4	159644365	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	81826511	159644365	31509911	5	919											
BDP1	55814	broad.mit.edu	37	5	70828156	70828156	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr5:70828156C>G	ENST00000358731.4	+	26	6057	c.5794C>G	c.(5794-5796)Cca>Gca	p.P1932A	BDP1_ENST00000380675.2_Missense_Mutation_p.P69A	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1932					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTGAATGTCCCAGATGTAGG	0.338																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5794-5796)Cca>Gca		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							112	103	106					5																	70828156		1873	4107	5980	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70828156C>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5794C>G	5.37:g.70828156C>G	ENSP00000351575:p.Pro1932Ala		Somatic				BDP1_uc003kbo.3_Missense_Mutation_p.P1932A|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	p.P1932A	NM_018429	NP_060899	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	25	6057	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1932					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5794C>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133468	0.21041	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.10288	2.89;2.89	5.63	3.78	0.43462	.	0.436137	0.22438	N	0.060056	T	0.08403	0.0209	L	0.38175	1.15	0.23515	N	0.997514	P;B	0.36683	0.565;0.048	B;B	0.33690	0.168;0.015	T	0.24657	-1.0154	10	0.30078	T	0.28	.	9.4113	0.38494	0.1432:0.4781:0.3787:0.0	.	1932;1932	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	A	1932;1512;69;69	ENSP00000351575:P1932A;ENSP00000370050:P69A	ENSP00000351575:P1932A	P	+	1	0	BDP1	70863912	0.968000	0.33430	0.904000	0.35570	0.998000	0.95712	0.779000	0.26746	0.630000	0.30394	0.655000	0.94253	CCA		0.338	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		12	14	0	0	0	1	0	12	14					G	70828156	C	G	70828156	3	3	48	1	0	0	0	0	1	0	0	0	1395	623	22	4	5896	4	BDP1	5	70828156	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		70828156	110087104	6	920											
HLA-B	3106	broad.mit.edu	37	6	31323335	31323335	+	Silent	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31323335G>A	ENST00000412585.2	-	4	682	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	218	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CATGGTCAGAGATGGGGTGGT	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(652-654)atC>atT		Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.							84	87	86					6																	31323335		2203	4300	6503	SO:0001819	synonymous_variant	3107		Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane		g.chr6:31323335G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.654C>T	6.37:g.31323335G>A			Somatic				HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Silent_p.I97I|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	p.I218I	NM_005514	NP_005505	WXS	Illumina GAIIx	Phase_I	Q9TNN7	1C05_HUMAN			3	708	-			218		V -> I (in allele Cw*05:03).	Alpha-3.|Ig-like C1-type.		Q29764	Silent	SNP	ENST00000412585.2	37	c.654C>T	CCDS34394.1																																																																																				0.582	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		55	52	0	0	0	1	0	55	52					A	31323335	G	A	31323335	2	1	48	1	0	0	0	0	0	0	0	1	7196	932	33	2		2	HLA-B	6	31323335	Silent	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		31323335	139791732	7	921											
BAT5	7920	broad.mit.edu	37	6	31656510	31656510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr6:31656510G>A	ENST00000395952.3	-	14	1402	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.Q381*|ABHD16A_ENST00000375842.4_Nonsense_Mutation_p.Q195*|ABHD16A_ENST00000471644.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	414						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGCACAGCTGCTCCGCGTTG	0.582																																						uc003nvy.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(1240-1242)Cag>Tag		Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.							34	34	34					6																	31656510		1509	2709	4218	SO:0001587	stop_gained	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31656510G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.1240C>T	6.37:g.31656510G>A	ENSP00000379282:p.Gln414*		Somatic				ABHD16A_uc003nvx.2_Nonsense_Mutation_p.Q195*|ABHD16A_uc011dny.2_Nonsense_Mutation_p.Q381*|ABHD16A_uc010jtc.2_Nonsense_Mutation_p.Q195*|ABHD16A_uc011dnz.2_Nonsense_Mutation_p.Q195*	p.Q414*	NM_021160	NP_066983	WXS	Illumina GAIIx	Phase_I	O95870	ABHGA_HUMAN			13	1319	-			414					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Nonsense_Mutation	SNP	ENST00000395952.3	37	c.1240C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	40	8.222800	0.98714	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-22.2444	17.2944	0.87166	0.0:0.0:1.0:0.0	.	.	.	.	X	414;195;381	.	ENSP00000365002:Q195X	Q	-	1	0	ABHD16A	31764489	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	8.138000	0.89613	2.687000	0.91594	0.462000	0.41574	CAG		0.582	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			17	13	0	0	0	1	0	17	13					A	31656510	G	A	31656510	4	1	48	1	0	0	0	0	0	1	0	0	1324	1328	46	2	464	2	BAT5	6	31656510	Nonsense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	333175	31656510	139458557	8	922											
MICALL2	79778	broad.mit.edu	37	7	1484922	1484922	+	Missense_Mutation	SNP	C	C	T	rs181998278	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr7:1484922C>T	ENST00000297508.7	-	6	959	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	MICALL2_ENST00000405088.4_Missense_Mutation_p.A50T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	262	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACACCCATGGCCCCTGGCTGT	0.687													C|||	14	0.00279553	0	0	5008	,	,		15052	0.0139		0	False		,,,				2504	0					uc003skj.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(784-786)Gcc>Acc		Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.							19	22	21					7																	1484922		2180	4276	6456	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1484922C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.784G>A	7.37:g.1484922C>T	ENSP00000297508:p.Ala262Thr		Somatic				MICALL2_uc003ski.4_5'Flank	p.A262T	NM_182924	NP_891554	WXS	Illumina GAIIx	Phase_I	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	5	931	-		Ovarian(82;0.0253)	262					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.784G>A	CCDS5324.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	C	16.63	3.176022	0.57692	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.70749	2.32;-0.51	4.12	3.2	0.36748	.	0.219510	0.22968	N	0.053470	T	0.56217	0.1970	L	0.29908	0.895	0.09310	N	1	D	0.63880	0.993	P	0.59948	0.866	T	0.57613	-0.7781	10	0.56958	D	0.05	.	11.0544	0.47909	0.0:0.8103:0.1897:0.0	.	262	Q8IY33	MILK2_HUMAN	T	50;262	ENSP00000385928:A50T;ENSP00000297508:A262T	ENSP00000297508:A262T	A	-	1	0	MICALL2	1451448	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.124000	0.15728	0.789000	0.33779	0.555000	0.69702	GCC		0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		17	15	0	0	0	1	0	17	15					T	1484922	C	T	1484922	3	4	48	1	0	0	0	0	1	0	0	0	9574	739	26	2	1978	2	MICALL2	7	1484922	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		1484922	157653741	9	923											
KIAA0913	23053	broad.mit.edu	37	10	75557769	75557769	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr10:75557769A>G	ENST00000605216.1	+	19	4095	c.3878A>G	c.(3877-3879)aAc>aGc	p.N1293S	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N1298S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N1293S|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N1260S|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.N1298S|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1293							zinc ion binding (GO:0008270)										GGCCTGCACAACTTTGTTTCT	0.507																																						uc001jvj.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19						c.(3877-3879)aAc>aGc		Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.							101	105	104					10																	75557769		2024	4177	6201	SO:0001583	missense	23053						zinc ion binding	g.chr10:75557769A>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3878A>G	10.37:g.75557769A>G	ENSP00000474748:p.Asn1293Ser		Somatic				KIAA0913_uc001jve.3_Missense_Mutation_p.N1298S|KIAA0913_uc009xrl.3_Missense_Mutation_p.N1293S|KIAA0913_uc001jvf.3_Missense_Mutation_p.N1293S|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.N728S|KIAA0913_uc010qkr.2_Missense_Mutation_p.N716S|KIAA0913_uc009xrn.2_5'Flank	p.N1293S	NM_001242488	NP_001229417	WXS	Illumina GAIIx	Phase_I	A7E2V4	K0913_HUMAN			18	4133	+	Prostate(51;0.0112)		1293					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3878A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.66|19.66	3.869198|3.869198	0.72065|0.72065	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.57595|.	0.39|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.81497|0.81497	2.545|2.545	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996|.	D;D;D;D|.	0.73380|.	0.971;0.98;0.98;0.971|.	T|T	0.79029|0.79029	-0.1970|-0.1970	10|5	0.87932|.	D|.	0|.	-8.0132|-8.0132	15.8006|15.8006	0.78450|0.78450	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1293;1305;1293;1298|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	S|A	1298|568	ENSP00000381693:N1298S|.	ENSP00000381693:N1298S|.	N|T	+|+	2|1	0|0	KIAA0913|KIAA0913	75227775|75227775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.859000|8.859000	0.92264|0.92264	2.144000|2.144000	0.66660|0.66660	0.460000|0.460000	0.39030|0.39030	AAC|ACT		0.507	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		24	26	0	0	0	1	0	24	26					G	75557769	A	G	75557769	3	3	48	1	0	0	0	0	1	0	0	0	8200	43	2	3	3967	3	KIAA0913	10	75557769	Missense_Mutation	SNP	A	TCGA-CE-A484-01A-11D-A23U-08		75557769	59976978	10	924											
OR4D5	219875	broad.mit.edu	37	11	123810393	123810393	+	Missense_Mutation	SNP	C	C	T	rs373579235		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr11:123810393C>T	ENST00000307033.2	+	1	144	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		TTGGGAGCTTCGGTTTGTTTT	0.468																																						uc001pzk.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(70-72)Cgg>Tgg		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.		C	TRP/ARG	0,4404		0,0,2202	96	93	94		70	3.3	0.1	11		94	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	24/319	123810393	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810393C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.70C>T	11.37:g.123810393C>T	ENSP00000305970:p.Arg24Trp		Somatic					p.R24W	NM_001001965	NP_001001965	WXS	Illumina GAIIx	Phase_I	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	70	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	24					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.70C>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803677	0.31869	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00448	7.38	5.28	3.35	0.38373	.	0.325829	0.22061	N	0.065174	T	0.00637	0.0021	L	0.46741	1.465	0.09310	N	1	D	0.76494	0.999	D	0.64776	0.929	T	0.52689	-0.8542	10	0.87932	D	0	-7.0026	7.5182	0.27612	0.4272:0.4975:0.0:0.0753	.	24	Q8NGN0	OR4D5_HUMAN	W	24	ENSP00000305970:R24W	ENSP00000305970:R24W	R	+	1	2	OR4D5	123315603	0.001000	0.12720	0.099000	0.21106	0.594000	0.36715	0.792000	0.26929	0.557000	0.29117	0.655000	0.94253	CGG		0.468	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		40	39	0	0	0	1	0	40	39					T	123810393	C	T	123810393	3	4	48	1	0	0	0	0	1	0	0	0	11057	875	31	1	72	1	OR4D5	11	123810393	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		123810393	11196123	11	925											
INTS2	57508	broad.mit.edu	37	17	59989372	59989372	+	Missense_Mutation	SNP	G	G	A	rs372208858		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr17:59989372G>A	ENST00000444766.3	-	6	808	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	INTS2_ENST00000251334.6_Missense_Mutation_p.R237C	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	245					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCTGTCCTGCGCCTTCCTCCA	0.428																																						uc002izn.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(733-735)Cgc>Tgc		Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.		G	CYS/ARG	0,3816		0,0,1908	200	200	200		733	4.8	1.0	17		200	1,8243		0,1,4121	no	missense	INTS2	NM_020748.2	180	0,1,6029	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	245/1205	59989372	1,12059	1908	4122	6030	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59989372G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.733C>T	17.37:g.59989372G>A	ENSP00000414237:p.Arg245Cys		Somatic				INTS2_uc002izm.3_Missense_Mutation_p.R237C	p.R245C	NM_020748	NP_065799	WXS	Illumina GAIIx	Phase_I	Q9H0H0	INT2_HUMAN			5	809	-			245					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.733C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398282	0.83120	0.0	1.21E-4	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.44083	0.93	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	P	0.62382	0.901	T	0.52852	-0.8520	9	.	.	.	-6.8969	18.2392	0.89961	0.0:0.0:1.0:0.0	.	245	Q9H0H0	INT2_HUMAN	C	245;244	ENSP00000414237:R245C	.	R	-	1	0	INTS2	57344154	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.420000	0.97426	2.377000	0.81083	0.655000	0.94253	CGC		0.428	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		24	135	0	0	0	1	0	24	135					A	59989372	G	A	59989372	3	1	48	1	0	0	0	0	1	0	0	0	7778	1087	38	1	2961	1	INTS2	17	59989372	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08		59989372	21205838	12	926											
PSG2	5670	broad.mit.edu	37	19	43576025	43576025	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr19:43576025T>C	ENST00000406487.1	-	4	889	c.791A>G	c.(790-792)aAc>aGc	p.N264S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	264	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGGGTTAGAGTTCGCGAAGCA	0.443																																						uc002ovr.3																			0		p.A263V(1)|p.A263A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(790-792)aAc>aGc		Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.							184	194	191					19																	43576025		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576025T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.791A>G	19.37:g.43576025T>C	ENSP00000385706:p.Asn264Ser		Somatic				PSG4_uc010xwk.1_Intron	p.N264S	NM_031246	NP_112536	WXS	Illumina GAIIx	Phase_I	P11465	PSG2_HUMAN			3	963	-		Prostate(69;0.00682)	264			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.791A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	t	0.367	-0.936400	0.02340	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.11169	2.8	1.26	-1.7	0.08159	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03827	0.0108	N	0.05351	-0.065	0.09310	N	1	B;B	0.20261	0.009;0.043	B;B	0.24006	0.044;0.05	T	0.45891	-0.9230	9	0.12430	T	0.62	.	1.6789	0.02827	0.2634:0.0:0.3942:0.3424	.	264;264	B5MCM8;P11465	.;PSG2_HUMAN	S	264	ENSP00000385706:N264S	ENSP00000332984:N264S	N	-	2	0	PSG2	48267865	0.001000	0.12720	0.007000	0.13788	0.008000	0.06430	-0.426000	0.07008	-0.194000	0.10399	-0.869000	0.02991	AAC		0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		86	109	0	0	0	1	0	86	109					C	43576025	T	C	43576025	3	2	48	1	0	0	0	0	1	0	0	0	12655	1725	60	3	224	3	PSG2	19	43576025	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		43576025	15552958	13	927											
CHEK2	11200	broad.mit.edu	37	22	29121000	29121000	+	Missense_Mutation	SNP	T	T	C	rs369223840		TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chr22:29121000T>C	ENST00000405598.1	-	5	748	c.557A>G	c.(556-558)aAt>aGt	p.N186S	CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.N186S|CHEK2_ENST00000348295.3_Missense_Mutation_p.N186S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.N186S|CHEK2_ENST00000382580.2_Missense_Mutation_p.N229S|CHEK2_ENST00000402731.1_Missense_Mutation_p.N186S|CHEK2_ENST00000404276.1_Missense_Mutation_p.N186S|CHEK2_ENST00000544772.1_5'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	186					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AATTTCAGAATTGTTATTCAA	0.338			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adt.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(685-687)aAt>aGt	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.		T	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	84	81	82		686,557,557	5.7	1.0	22		82	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	46,46,46	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	229/587,186/544,186/515	29121000	1,13003	2203	4299	6502	SO:0001583	missense	11200				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121000T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.557A>G	22.37:g.29121000T>C	ENSP00000386087:p.Asn186Ser		Somatic				CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.N186S|CHEK2_uc003adu.1_Missense_Mutation_p.N186S|CHEK2_uc003adv.1_Missense_Mutation_p.N186S|CHEK2_uc003adx.1_5'UTR	p.N229S	NM_001005735	NP_001005735	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			4	758	-			186			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.686A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027938	0.54790	0.0	1.16E-4	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000439200	D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.73	5.73	0.89815	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.081689	0.85682	D	0.000000	D	0.91503	0.7317	L	0.58428	1.81	0.58432	D	0.999992	P;D;P;D	0.71674	0.924;0.998;0.94;0.959	P;D;P;P	0.70487	0.589;0.969;0.897;0.835	D	0.90839	0.4722	10	0.39692	T	0.17	-6.3948	15.1907	0.73041	0.0:0.0:0.0:1.0	.	186;186;186;229	O96017-7;O96017-12;O96017;O96017-9	.;.;CHK2_HUMAN;.	S	186;186;186;186;186;229;186;217	ENSP00000329012:N186S;ENSP00000372007:N186S;ENSP00000329178:N186S;ENSP00000385747:N186S;ENSP00000386087:N186S;ENSP00000372023:N229S;ENSP00000384835:N186S;ENSP00000408065:N217S	ENSP00000329178:N186S	N	-	2	0	CHEK2	27451000	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	5.443000	0.66581	2.184000	0.69523	0.477000	0.44152	AAT		0.338	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	23	0	0	0	1	0	6	23					C	29121000	T	C	29121000	3	2	48	1	0	0	0	0	1	0	0	0	3335	1493	52	3	1122	3	CHEK2	22	29121000	Missense_Mutation	SNP	T	TCGA-CE-A484-01A-11D-A23U-08		29121000	22183566	14	928											
MAGEB6	158809	broad.mit.edu	37	X	26212473	26212473	+	Silent	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:26212473C>T	ENST00000379034.1	+	2	659	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	170										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGTGGCTGCCGAGGGTGAAG	0.517																																						uc004dbr.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(508-510)gcC>gcT		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							53	47	49					X																	26212473		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212473C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.510C>T	X.37:g.26212473C>T			Somatic				MAGEB6_uc022buc.1_Silent_p.A170A	p.A170A	NM_173523	NP_775794	WXS	Illumina GAIIx	Phase_I	Q8N7X4	MAGB6_HUMAN			1	659	+			170					Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.510C>T	CCDS14217.1																																																																																				0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		11	65	0	0	0	1	0	11	65					T	26212473	C	T	26212473	2	4	48	1	0	0	0	0	0	0	0	1	9179	639	23	1		1	MAGEB6	23	26212473	Silent	SNP	C	TCGA-CE-A484-01A-11D-A23U-08		26212473	129058087	15	929											
SRPX	8406	broad.mit.edu	37	X	38016255	38016255	+	Missense_Mutation	SNP	G	G	A	rs146651232	byFrequency	TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:38016255G>A	ENST00000378533.3	-	8	1089	c.983C>T	c.(982-984)aCg>aTg	p.T328M	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.T315M|SRPX_ENST00000538295.1_Missense_Mutation_p.T328M|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.T269M|SRPX_ENST00000544439.1_Missense_Mutation_p.T308M	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	328					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGCAGCTGCCGTTCTGACACC	0.498													G|||	1	0.000264901	8e-04	0	3775	,	,		14969	0		0	False		,,,				2504	0					uc004ddy.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(982-984)aCg>aTg		Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.		G	MET/THR,MET/THR,MET/THR,MET/THR	5,3828		0,4,1,1627,570	113	94	100		923,806,983,983	6.1	1.0	X	dbSNP_134	100	0,6728		0,0,0,2428,1872	yes	missense,missense,missense,missense	SRPX	NM_001170750.1,NM_001170751.1,NM_001170752.1,NM_006307.4	81,81,81,81	0,4,1,4055,2442	AA,AG,A,GG,G		0.0,0.1304,0.0473	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	308/445,269/406,328/380,328/465	38016255	5,10556	2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38016255G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.983C>T	X.37:g.38016255G>A	ENSP00000367794:p.Thr328Met		Somatic				SRPX_uc011mki.2_Missense_Mutation_p.T328M|SRPX_uc004ddz.2_Missense_Mutation_p.T308M|SRPX_uc011mkh.2_Missense_Mutation_p.T269M	p.T328M	NM_006307	NP_006298	WXS	Illumina GAIIx	Phase_I	P78539	SRPX_HUMAN			7	1115	-			328					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.983C>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.608028	0.66558	0.001304	0.0	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.18338	2.26;2.43;2.29;2.24;2.22	6.08	6.08	0.98989	.	0.368405	0.33650	N	0.004686	T	0.32315	0.0825	L	0.55481	1.735	0.46823	D	0.99921	D;D;D;D	0.71674	0.998;0.972;0.975;0.958	P;B;P;B	0.59056	0.851;0.437;0.453;0.265	T	0.00706	-1.1601	10	0.39692	T	0.17	-7.3941	14.3571	0.66745	0.0:0.0:0.8523:0.1477	.	328;269;308;328	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	M	308;269;328;328;315	ENSP00000440758:T308M;ENSP00000411165:T269M;ENSP00000445034:T328M;ENSP00000367794:T328M;ENSP00000339211:T315M	ENSP00000339211:T315M	T	-	2	0	SRPX	37901199	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	5.203000	0.65174	2.562000	0.86427	0.600000	0.82982	ACG		0.498	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		22	34	0	0	0	1	0	22	34					A	38016255	G	A	38016255	3	1	48	1	0	0	0	0	1	0	0	0	15163	1145	40	1	423	1	SRPX	23	38016255	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	11803782	38016255	117254305	16	930											
TFE3	7030	broad.mit.edu	37	X	48888961	48888961	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:48888961C>T	ENST00000315869.7	-	9	1494	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	412	Leucine-zipper.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGATCGCTGCCGGCTCTCCAG	0.597			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	uc004dmb.3				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1234-1236)cGg>cAg		Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.							35	32	33					X																	48888961		2203	4299	6502	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48888961C>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1235G>A	X.37:g.48888961C>T	ENSP00000314129:p.Arg412Gln		Somatic				TFE3_uc004dmc.3_Missense_Mutation_p.R307Q	p.R412Q	NM_006521	NP_006512	WXS	Illumina GAIIx	Phase_I	P19532	TFE3_HUMAN			8	1473	-			412			Leucine-zipper.		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1235G>A	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	24.2	4.508781	0.85282	.	.	ENSG00000068323	ENST00000315869	T	0.16597	2.33	5.64	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	M	0.67953	2.075	0.80722	D	1	B	0.31503	0.326	B	0.22601	0.04	T	0.01795	-1.1272	10	0.56958	D	0.05	-19.8376	12.3703	0.55252	0.0:0.9156:0.0:0.0844	.	412	P19532	TFE3_HUMAN	Q	412	ENSP00000314129:R412Q	ENSP00000314129:R412Q	R	-	2	0	TFE3	48775905	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.241000	0.51376	1.140000	0.42260	0.462000	0.41574	CGG		0.597	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		8	11	0	0	0	1	0	8	11					T	48888961	C	T	48888961	3	4	48	1	0	0	0	0	1	0	0	0	15797	652	23	1	500	1	TFE3	23	48888961	Missense_Mutation	SNP	C	TCGA-CE-A484-01A-11D-A23U-08	10872706	48888961	106381599	17	931											
ZNF75D	7626	broad.mit.edu	37	X	134421632	134421632	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A484-01A-11D-A23U-08	TCGA-CE-A484-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef	641a0220-6eec-434a-b606-e256113b65da	g.chrX:134421632G>A	ENST00000370766.3	-	7	3679	c.970C>T	c.(970-972)Cac>Tac	p.H324Y	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H229Y	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	324					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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTACACTGTGTGTATCACCA	0.388																																						uc022ceq.1																			0		p.T323A(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(970-972)Cac>Tac		Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.							127	117	120					X																	134421632		2203	4299	6502	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421632G>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.970C>T	X.37:g.134421632G>A	ENSP00000359802:p.His324Tyr		Somatic				DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.H229Y	p.H324Y	NM_007131	NP_009062	WXS	Illumina GAIIx	Phase_I	P51815	ZN75D_HUMAN			5	1360	-			324					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.970C>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	G	0.513	-0.865439	0.02590	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06528	3.29;3.29	2.54	-2.55	0.06288	.	2.482670	0.01808	N	0.033292	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39683	-0.9602	10	0.56958	D	0.05	.	2.6711	0.05067	0.4178:0.0:0.3137:0.2686	.	324;229	P51815;A6NK62	ZN75D_HUMAN;.	Y	324;229	ENSP00000359802:H324Y;ENSP00000359800:H229Y	ENSP00000359800:H229Y	H	-	1	0	ZNF75D	134249298	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.517000	0.02248	-0.895000	0.03920	0.422000	0.28245	CAC		0.388	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		21	96	0	0	0	1	0	21	96					A	134421632	G	A	134421632	3	1	48	1	0	0	0	0	1	0	0	0	18131	1377	48	2	566	2	ZNF75D	23	134421632	Missense_Mutation	SNP	G	TCGA-CE-A484-01A-11D-A23U-08	85532671	134421632	20848928	18	932											
RASGRF2	5924	broad.mit.edu	37	5	80369069	80369069	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr5:80369069G>A	ENST00000265080.4	+	5	752	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	229	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		GAAGACCATCGTGCAGGATTA	0.438																																						uc003kha.2																			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.(685-687)Gtg>Atg		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.							166	143	151					5																	80369069		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	Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr5:80369069G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.685G>A	5.37:g.80369069G>A	ENSP00000265080:p.Val229Met		Somatic				RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.V57M	p.V229M	NM_006909	NP_008840	WXS	Illumina GAIIx	Phase_I	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	4	735	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	229			IQ.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.685G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219152	0.79464	.	.	ENSG00000113319	ENST00000265080	T	0.70282	-0.47	5.28	5.28	0.74379	Dbl homology (DH) domain (1);	0.057858	0.64402	D	0.000002	T	0.80737	0.4680	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.91635	0.908;0.999	T	0.82180	-0.0585	10	0.87932	D	0	.	19.2749	0.94027	0.0:0.0:1.0:0.0	.	229;229	D6RAS9;O14827	.;RGRF2_HUMAN	M	229	ENSP00000265080:V229M	ENSP00000265080:V229M	V	+	1	0	RASGRF2	80404825	1.000000	0.71417	0.992000	0.48379	0.510000	0.34073	6.683000	0.74533	2.629000	0.89072	0.297000	0.19635	GTG		0.438	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		15	46	0	0	0	1	0	15	46					A	80369069	G	A	80369069	3	1	49	1	0	0	0	0	1	0	0	0	13073	1145	40	1	703	1	RASGRF2	5	80369069	Missense_Mutation	SNP	G	TCGA-CE-A485-01A-11D-A23U-08		80369069	100546191	1	933											
ZFPM2	23414	broad.mit.edu	37	8	106813356	106813356	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr8:106813356A>G	ENST00000407775.2	+	8	1296	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N80S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N217S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N217S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	349					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCGTGATCAACTTTCACCAA	0.478																																						uc003ymd.3																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1045-1047)aAc>aGc		Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.							204	198	200					8																	106813356		2029	4207	6236	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813356A>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1046A>G	8.37:g.106813356A>G	ENSP00000384179:p.Asn349Ser		Somatic				ZFPM2_uc011lhs.2_Missense_Mutation_p.N80S	p.N349S	NM_012082	NP_036214	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1069	+			349					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1046A>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	2.448	-0.327049	0.05350	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.66	1.67	0.24075	Zinc finger, C2H2-like (1);	0.259396	0.43747	N	0.000525	T	0.15782	0.0380	L	0.39633	1.23	0.35031	D	0.758754	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	10	0.07030	T	0.85	.	8.5354	0.33360	0.7352:0.0:0.2648:0.0	.	349	Q8WW38	FOG2_HUMAN	S	349;217;217;80	ENSP00000384179:N349S;ENSP00000430757:N217S;ENSP00000428720:N217S;ENSP00000367733:N80S	ENSP00000367733:N80S	N	+	2	0	ZFPM2	106882532	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.104000	0.41815	0.091000	0.17302	0.528000	0.53228	AAC		0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			33	111	0	0	0	1	0	33	111					G	106813356	A	G	106813356	3	3	49	1	0	0	0	0	1	0	0	0	17655	43	2	3	1076	3	ZFPM2	8	106813356	Missense_Mutation	SNP	A	TCGA-CE-A485-01A-11D-A23U-08		106813356	39550666	2	934											
GYS2	2998	broad.mit.edu	37	12	21733368	21733368	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A485-01A-11D-A23U-08	TCGA-CE-A485-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe9ef6b-c371-4ed7-b315-29b1b3c5bd24	ec6d75c4-498a-466c-b267-7c73295b1b66	g.chr12:21733368C>G	ENST00000261195.2	-	2	465	c.211G>C	c.(211-213)Gag>Cag	p.E71Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	71					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATTATGCTCAAAATATGGA	0.423																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(211-213)Gag>Cag		Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.							219	203	208					12																	21733368		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733368C>G		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.211G>C	12.37:g.21733368C>G	ENSP00000261195:p.Glu71Gln		Somatic					p.E71Q	NM_021957	NP_068776	WXS	Illumina GAIIx	Phase_I	P54840	GYS2_HUMAN			1	466	-			71					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.211G>C	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845854	0.91277	.	.	ENSG00000111713	ENST00000261195	T	0.66280	-0.2	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.73395	-0.3996	10	0.44086	T	0.13	-33.0977	19.1722	0.93583	0.0:1.0:0.0:0.0	.	71	P54840	GYS2_HUMAN	Q	71	ENSP00000261195:E71Q	ENSP00000261195:E71Q	E	-	1	0	GYS2	21624635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.283000	0.78640	2.763000	0.94921	0.563000	0.77884	GAG		0.423	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		7	63	0	0	0	1	0	7	63					G	21733368	C	G	21733368	3	3	49	1	0	0	0	0	1	0	0	0	6913	835	29	4	1960	4	GYS2	12	21733368	Missense_Mutation	SNP	C	TCGA-CE-A485-01A-11D-A23U-08		21733368	112118527	3	935											
CNR2	1269	broad.mit.edu	37	1	24201264	24201264	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:24201264C>A	ENST00000374472.4	-	2	1005	c.844G>T	c.(844-846)Gct>Tct	p.A282S	CNR2_ENST00000536471.1_Missense_Mutation_p.A282S	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	282					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.A282T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GAGCAGAAAGCAAAGGCCTTC	0.577																																						uc001bif.3																			2	Substitution - Missense(2)	p.A282T(3)|p.A282A(1)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(844-846)Gct>Tct		Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	Nabilone(DB00486)						92	81	85					1																	24201264		2203	4300	6503	SO:0001583	missense	1269				G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201264C>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.844G>T	1.37:g.24201264C>A	ENSP00000363596:p.Ala282Ser		Somatic				CNR2_uc021oij.1_Missense_Mutation_p.A282S	p.A282S	NM_001841	NP_001832	WXS	Illumina GAIIx	Phase_I	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	1	971	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	282					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.844G>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917570	0.92249	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.37058	1.22;1.22	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58171	-0.7683	10	0.87932	D	0	.	19.0647	0.93106	0.0:1.0:0.0:0.0	.	282	P34972	CNR2_HUMAN	S	282	ENSP00000363596:A282S;ENSP00000442830:A282S	ENSP00000363596:A282S	A	-	1	0	CNR2	24073851	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	6.089000	0.71384	2.493000	0.84123	0.557000	0.71058	GCT		0.577	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		23	57	0	0	0	1	0	23	57					A	24201264	C	A	24201264	3	1	50	1	0	0	0	0	1	0	0	0	3632	710	25	4	242	4	CNR2	1	24201264	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		24201264	225049357	1	936											
ZSCAN20	7579	broad.mit.edu	37	1	33959841	33959841	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:33959841G>C	ENST00000361328.3	+	8	2050	c.1897G>C	c.(1897-1899)Gaa>Caa	p.E633Q		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	633					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)				GCATGAGGATGAAGACCAGAT	0.438																																						uc001bxj.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1897-1899)Gaa>Caa		Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.							68	65	66					1																	33959841		1884	4123	6007	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33959841G>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1897G>C	1.37:g.33959841G>C	ENSP00000355053:p.Glu633Gln		Somatic				ZSCAN20_uc009vui.3_Missense_Mutation_p.E632Q	p.E633Q	NM_145238	NP_660281	WXS	Illumina GAIIx	Phase_I	P17040	ZSC20_HUMAN			7	2064	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	633					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1897G>C	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722179	0.30503	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.75	2.86	0.33363	.	0.204143	0.34088	N	0.004262	T	0.26376	0.0644	L	0.34521	1.04	0.09310	N	1	P;P	0.42203	0.773;0.664	B;B	0.40534	0.332;0.178	T	0.07443	-1.0772	9	0.33141	T	0.24	-3.3068	9.9071	0.41384	0.2302:0.0:0.7698:0.0	.	632;633	P17040-3;P17040	.;ZSC20_HUMAN	Q	633;567;567	.	ENSP00000324450:E633Q	E	+	1	0	ZSCAN20	33732428	0.925000	0.31364	0.627000	0.29227	0.342000	0.28953	1.722000	0.38042	0.785000	0.33685	-0.258000	0.10820	GAA		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		13	40	0	0	0	1	0	13	40					C	33959841	G	C	33959841	3	2	50	1	0	0	0	0	1	0	0	0	18229	1291	45	4	1923	4	ZSCAN20	1	33959841	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	9758577	33959841	215290780	2	937											
CRP	1401	broad.mit.edu	37	1	159683629	159683629	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:159683629C>T	ENST00000255030.5	-	2	464	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	121	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	ATCCCTGAGGCGGACTCCCAG	0.502																																						uc001ftw.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(361-363)Gcc>Acc		Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	Atorvastatin(DB01076)|Bezafibrate(DB01393)						135	139	138					1																	159683629		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683629C>T	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.361G>A	1.37:g.159683629C>T	ENSP00000255030:p.Ala121Thr		Somatic				CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	p.A121T	NM_000567	NP_000558	WXS	Illumina GAIIx	Phase_I	P02741	CRP_HUMAN			1	465	-	all_hematologic(112;0.0429)		121			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.361G>A	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026465	0.08054	.	.	ENSG00000132693	ENST00000255030	T	0.58060	0.36	4.73	-1.95	0.07548	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	2.568440	0.01740	N	0.029331	T	0.09642	0.0237	N	0.13272	0.32	0.18873	N	0.999985	B	0.27932	0.194	B	0.24269	0.052	T	0.02852	-1.1102	10	0.12766	T	0.61	1.9559	1.7616	0.02993	0.1305:0.43:0.127:0.3125	.	121	P02741	CRP_HUMAN	T	121	ENSP00000255030:A121T	ENSP00000255030:A121T	A	-	1	0	CRP	157950253	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.605000	0.00417	-0.829000	0.04268	-0.761000	0.03458	GCC		0.502	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		41	184	0	0	0	1	0	41	184					T	159683629	C	T	159683629	3	4	50	1	0	0	0	0	1	0	0	0	3895	768	27	1	317	1	CRP	1	159683629	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	125723788	159683629	89566992	3	938											
DUSP27	92235	broad.mit.edu	37	1	167095889	167095889	+	Silent	SNP	G	G	A	rs371011111	byFrequency	TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:167095889G>A	ENST00000361200.2	+	6	1687	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	DUSP27_ENST00000443333.1_Silent_p.R507R|DUSP27_ENST00000271385.5_Silent_p.R507R|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	507					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGCAGACAGGAGCTCAGAAG	0.597													G|||	3	0.000599042	0.0023	0	5008	,	,		17760	0		0	False		,,,				2504	0					uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1519-1521)agG>agA		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	58	53	55		1521	-9.4	0.0	1		55	0,8600		0,0,4300	no	coding-synonymous	DUSP27	NM_001080426.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		507/1159	167095889	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095889G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1521G>A	1.37:g.167095889G>A			Somatic					p.R507R	NM_001080426	NP_001073895	WXS	Illumina GAIIx	Phase_I	Q5VZP5	DUS27_HUMAN			4	1537	+			507					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1521G>A	CCDS30932.1																																																																																				0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		22	51	0	0	0	1	0	22	51					A	167095889	G	A	167095889	2	1	50	1	0	0	0	0	0	0	0	1	4824	1165	41	2		2	DUSP27	1	167095889	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	7412260	167095889	82154732	4	939											
TARBP1	6894	broad.mit.edu	37	1	234569236	234569236	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:234569236T>C	ENST00000040877.1	-	14	2313	c.2314A>G	c.(2314-2316)Agg>Ggg	p.R772G		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	772					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGTTACCCCTTTTCCACCCA	0.398																																						uc001hwd.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(2314-2316)Agg>Ggg		Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.							138	133	135					1																	234569236		2203	4300	6503	SO:0001583	missense	6894				RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234569236T>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2314A>G	1.37:g.234569236T>C	ENSP00000040877:p.Arg772Gly		Somatic					p.R772G	NM_005646	NP_005637	WXS	Illumina GAIIx	Phase_I	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		13	2314	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	772					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2314A>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649575	0.29336	.	.	ENSG00000059588	ENST00000040877	T	0.06142	3.34	5.68	-6.86	0.01676	.	0.766887	0.12942	N	0.426530	T	0.04363	0.0120	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36114	-0.9761	10	0.25106	T	0.35	-6.8367	7.5766	0.27939	0.0:0.2216:0.4085:0.3699	.	772	Q13395	TARB1_HUMAN	G	772	ENSP00000040877:R772G	ENSP00000040877:R772G	R	-	1	2	TARBP1	232635859	0.018000	0.18449	0.004000	0.12327	0.956000	0.61745	0.001000	0.13038	-1.185000	0.02716	0.533000	0.62120	AGG		0.398	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		3	63	0	0	0	1	0	3	63					C	234569236	T	C	234569236	3	2	50	1	0	0	0	0	1	0	0	0	15552	1608	56	3	2619	3	TARBP1	1	234569236	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	67473347	234569236	14681385	5	940											
OR2L13	284521	broad.mit.edu	37	1	248263052	248263052	+	Silent	SNP	C	C	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:248263052C>T	ENST00000358120.2	+	2	520	c.375C>T	c.(373-375)atC>atT	p.I125I	OR2L13_ENST00000366478.2_Silent_p.I125I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	125						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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			ATTTGGCCATCTGCCACTCTC	0.502																																						uc001ids.3																			0		p.A124D(1)|p.A124T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(373-375)atC>atT		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							220	207	211					1																	248263052		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263052C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.375C>T	1.37:g.248263052C>T			Somatic				OR2L13_uc021pmc.1_Silent_p.I125I	p.I125I	NM_175911	NP_787107	WXS	Illumina GAIIx	Phase_I	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	712	+	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)		125					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.375C>T	CCDS1637.1																																																																																				0.502	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		4	216	0	0	0	1	0	4	216					T	248263052	C	T	248263052	2	4	50	1	0	0	0	0	0	0	0	1	11006	903	32	2		2	OR2L13	1	248263052	Silent	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	13693816	248263052	987569	6	941											
WIPF1	7456	broad.mit.edu	37	2	175446092	175446092	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr2:175446092C>A	ENST00000392547.2	-	3	226	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.G43W|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G43W|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G43W|WIPF1_ENST00000392546.2_Missense_Mutation_p.G43W|WIPF1_ENST00000409891.1_Missense_Mutation_p.G43W|WIPF1_ENST00000410117.1_Missense_Mutation_p.G43W	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	43	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGTTTCTTCCCTTTGCTGATA	0.438																																						uc010fqt.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(127-129)Ggg>Tgg		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							386	353	364					2																	175446092		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175446092C>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.127G>T	2.37:g.175446092C>A	ENSP00000376330:p.Gly43Trp		Somatic				BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.G43W|WIPF1_uc002ujc.1_Missense_Mutation_p.G43W|WIPF1_uc002uiz.3_Missense_Mutation_p.G43W|WIPF1_uc002ujb.2_Missense_Mutation_p.G43W|WIPF1_uc010zep.1_Missense_Mutation_p.G43W	p.G43W	NM_003387	NP_003378	WXS	Illumina GAIIx	Phase_I	O43516	WIPF1_HUMAN			2	291	-			43			WH2.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.127G>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764745	0.90020	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.76	5.76	0.90799	Actin-binding WH2 (2);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	H	0.94658	3.565	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	D	0.92572	0.6067	10	0.87932	D	0	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	43;43;43;43	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	W	43	ENSP00000376330:G43W;ENSP00000272746:G43W;ENSP00000352802:G43W;ENSP00000376329:G43W;ENSP00000386431:G43W;ENSP00000387150:G43W;ENSP00000391785:G43W;ENSP00000386757:G43W;ENSP00000388454:G43W	ENSP00000272746:G43W	G	-	1	0	WIPF1	175154338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.098000	0.76974	2.736000	0.93811	0.655000	0.94253	GGG		0.438	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		6	223	0	0	0	1	0	6	223					A	175446092	C	A	175446092	3	1	50	1	0	0	0	0	1	0	0	0	17364	681	24	4	1408	4	WIPF1	2	175446092	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		175446092	67753281	7	942											
COL3A1	1281	broad.mit.edu	37	2	189871146	189871146	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr2:189871146C>G	ENST00000304636.3	+	43	3339	c.3169C>G	c.(3169-3171)Cca>Gca	p.P1057A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1057	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCCTGTCGGTCCAGCTGGAAA	0.488																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3169-3171)Cca>Gca		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						68	71	70					2																	189871146		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189871146C>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3169C>G	2.37:g.189871146C>G	ENSP00000304408:p.Pro1057Ala		Somatic					p.P1057A	NM_000090	NP_000081	WXS	Illumina GAIIx	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		42	3286	+			1057			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3169C>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102041	0.56183	.	.	ENSG00000168542	ENST00000304636	D	0.96745	-4.11	5.35	4.48	0.54585	.	0.281313	0.25634	N	0.029334	D	0.96393	0.8823	L	0.58302	1.8	0.80722	D	1	B	0.29862	0.259	P	0.46275	0.51	D	0.94557	0.7759	10	0.20046	T	0.44	.	15.8201	0.78633	0.0:0.728:0.272:0.0	.	1057	P02461	CO3A1_HUMAN	A	1057	ENSP00000304408:P1057A	ENSP00000304408:P1057A	P	+	1	0	COL3A1	189579391	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.674000	0.46867	1.484000	0.48361	0.655000	0.94253	CCA		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	25	0	0	0	1	0	4	25					G	189871146	C	G	189871146	3	3	50	1	0	0	0	0	1	0	0	0	3688	855	30	4	3339	4	COL3A1	2	189871146	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	14425054	189871146	53328227	8	943											
PLXNB1	5364	broad.mit.edu	37	3	48459614	48459614	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:48459614G>C	ENST00000358536.4	-	15	3477	c.3208C>G	c.(3208-3210)Ccc>Gcc	p.P1070A	PLXNB1_ENST00000456774.1_Missense_Mutation_p.P887A|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1070A|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P887A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1070	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGATGAGGGGCGCTGGGCAC	0.657																																						uc003csw.2																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3208-3210)Ccc>Gcc		Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.							50	37	41					3																	48459614		2202	4300	6502	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48459614G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3208C>G	3.37:g.48459614G>C	ENSP00000351338:p.Pro1070Ala		Somatic				PLXNB1_uc003csu.2_Missense_Mutation_p.P887A|PLXNB1_uc003csx.2_Missense_Mutation_p.P1070A|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	p.P1070A	NM_002673	NP_002664	WXS	Illumina GAIIx	Phase_I	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	14	3478	-			1070			IPT/TIG 1.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3208C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970768	0.92919	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.59	5.59	0.84812	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	M	0.90309	3.105	0.80722	D	1	P;P	0.50710	0.938;0.498	P;B	0.55749	0.783;0.23	D	0.93798	0.7098	10	0.87932	D	0	.	18.5826	0.91177	0.0:0.0:1.0:0.0	.	1070;887	O43157;O43157-2	PLXB1_HUMAN;.	A	1070;887;1070;887	ENSP00000296440:P1070A;ENSP00000351242:P887A;ENSP00000351338:P1070A;ENSP00000414199:P887A	ENSP00000296440:P1070A	P	-	1	0	PLXNB1	48434618	1.000000	0.71417	0.918000	0.36340	0.980000	0.70556	9.440000	0.97547	2.642000	0.89623	0.561000	0.74099	CCC		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	21	0	0	0	1	0	3	21					C	48459614	G	C	48459614	3	2	50	1	0	0	0	0	1	0	0	0	12123	1203	42	4	3295	4	PLXNB1	3	48459614	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		48459614	149562816	9	944											
XRN1	54464	broad.mit.edu	37	3	142133126	142133126	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:142133126G>A	ENST00000264951.4	-	14	1561	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	XRN1_ENST00000392981.2_Missense_Mutation_p.P482S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	482					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)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAATGATAAGGATAATACCTA	0.294																																						uc003eus.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(1444-1446)Cct>Tct		Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.							97	99	98					3																	142133126		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding	g.chr3:142133126G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1444C>T	3.37:g.142133126G>A	ENSP00000264951:p.Pro482Ser		Somatic				XRN1_uc010huu.3_5'Flank|XRN1_uc003eut.3_Missense_Mutation_p.P482S|XRN1_uc003euu.3_Missense_Mutation_p.P482S|XRN1_uc003euv.1_Missense_Mutation_p.P343S	p.P482S	NM_019001	NP_061874	WXS	Illumina GAIIx	Phase_I	Q8IZH2	XRN1_HUMAN			13	1511	-			482					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1444C>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469159	0.84533	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.74526	-0.85;-0.85	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.87827	2.91	0.80722	D	1	D;D;D	0.69078	0.989;0.997;0.995	D;D;D	0.73380	0.95;0.98;0.955	D	0.89410	0.3702	10	0.59425	D	0.04	-10.0391	19.2343	0.93851	0.0:0.0:1.0:0.0	.	343;482;482	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	S	482	ENSP00000264951:P482S;ENSP00000376707:P482S	ENSP00000264951:P482S	P	-	1	0	XRN1	143615816	1.000000	0.71417	0.936000	0.37596	0.964000	0.63967	9.041000	0.93788	2.636000	0.89361	0.650000	0.86243	CCT		0.294	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		27	51	0	0	0	1	0	27	51					A	142133126	G	A	142133126	3	1	50	1	0	0	0	0	1	0	0	0	17456	1174	41	2	3792	2	XRN1	3	142133126	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	93673512	142133126	55889304	10	945											
KDR	3791	broad.mit.edu	37	4	55964962	55964962	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:55964962C>T	ENST00000263923.4	-	16	2570	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	759					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|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)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCGTCTTTTCCTGGGCACCT	0.408			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2275-2277)Gaa>Aaa		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						91	91	91					4																	55964962		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964962C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2275G>A	4.37:g.55964962C>T	ENSP00000263923:p.Glu759Lys	TSP Lung(20;0.16)	Somatic				KDR_uc003hat.1_Missense_Mutation_p.E759K	p.E759K	NM_002253	NP_002244	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		15	2577	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		759					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2275G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052708	0.75960	.	.	ENSG00000128052	ENST00000263923	T	0.76448	-1.02	5.97	5.97	0.96955	.	0.108004	0.64402	D	0.000011	T	0.78717	0.4327	M	0.66939	2.045	0.80722	D	1	P	0.36753	0.568	B	0.36666	0.23	T	0.76793	-0.2828	10	0.38643	T	0.18	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	759	P35968	VGFR2_HUMAN	K	759	ENSP00000263923:E759K	ENSP00000263923:E759K	E	-	1	0	KDR	55659719	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.776000	0.85560	2.831000	0.97527	0.655000	0.94253	GAA		0.408	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			4	55	0	0	0	1	0	4	55					T	55964962	C	T	55964962	3	4	50	1	0	0	0	0	1	0	0	0	8139	864	30	2	1855	2	KDR	4	55964962	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		55964962	135189314	11	946											
MTTP	4547	broad.mit.edu	37	4	100504662	100504662	+	Silent	SNP	A	A	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:100504662A>C	ENST00000265517.5	+	3	584	c.381A>C	c.(379-381)ctA>ctC	p.L127L	MTTP_ENST00000422897.2_Silent_p.L127L|MTTP_ENST00000511045.1_Silent_p.L154L|MTTP_ENST00000457717.1_Silent_p.L127L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	127	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCCTTCATCTAATCCATGGAA	0.388																																						uc011cej.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(460-462)ctA>ctC		Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	Hesperetin(DB01094)						77	84	81					4																	100504662		2201	4300	6501	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100504662A>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.381A>C	4.37:g.100504662A>C			Somatic				MTTP_uc003hvc.4_Silent_p.L127L|MTTP_uc003hvb.3_Silent_p.L127L	p.L154L	NM_000253	NP_000244	WXS	Illumina GAIIx	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	2	475	+			127			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.462A>C	CCDS3651.1																																																																																				0.388	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			4	78	0	0	0	1	0	4	78					C	100504662	A	C	100504662	2	2	50	1	0	0	0	0	0	0	0	1	9964	349	13	5		5	MTTP	4	100504662	Silent	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08	44539700	100504662	90649614	12	947											
LARP1	23367	broad.mit.edu	37	5	154190917	154190918	+	Splice_Site	INS	-	-	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr5:154190917_154190918insT	ENST00000336314.4	+	17	2746		c.e17+1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1						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)			TATGAAGCTGGTAAGAGCCAGA	0.49																																						uc003lvo.3																			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.e17+1		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	23367						RNA binding|protein binding	g.chr5:154190917_154190918insT	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2722+1->T	5.37:g.154190918_154190918dupT			Somatic				LARP1_uc021ygh.1_Splice_Site_p.G780_splice	p.G908_splice	NM_015315	NP_056130	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		17	2746	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	985					O94836|Q8N4M2|Q8NB73|Q9UFD7	Splice_Site	INS	ENST00000336314.4	37	c.2722_splice	CCDS4328.1																																																																																				0.49	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Intron	24	44						24	44	---	---	---	---	T	154190918	-	T	154190917	8	5	50	1	0	1	1	0	0	0	1	0	8628	1275	44	0	2789	0	LARP1	5	154190917	Splice_Site	INS	-	TCGA-DE-A0XZ-01A-11D-A17V-08		154190917	26724343	13	948											
MDN1	23195	broad.mit.edu	37	6	90471411	90471411	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr6:90471411G>C	ENST00000369393.3	-	17	2528	c.2413C>G	c.(2413-2415)Caa>Gaa	p.Q805E	MDN1_ENST00000428876.1_Missense_Mutation_p.Q805E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	805					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)		TTCATCTGTTGTTGGGCATGG	0.328																																						uc003pnn.1																			0		p.Q804H(1)		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						c.(2413-2415)Caa>Gaa		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							158	150	153					6																	90471411		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90471411G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2413C>G	6.37:g.90471411G>C	ENSP00000358400:p.Gln805Glu		Somatic				MDN1_uc003pno.1_Missense_Mutation_p.Q223E	p.Q805E	NM_014611	NP_055426	WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	16	2529	-		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)	805					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2413C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874574	0.33069	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.17213	4.04;4.04;2.29	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);	0.061993	0.64402	D	0.000003	T	0.04137	0.0115	N	0.08118	0	0.39889	D	0.973746	B;B	0.21147	0.052;0.028	B;B	0.30401	0.115;0.115	T	0.16158	-1.0412	10	0.02654	T	1	.	19.5497	0.95312	0.0:0.0:1.0:0.0	.	732;805	Q5T795;Q9NU22	.;MDN1_HUMAN	E	805;805;732	ENSP00000358400:Q805E;ENSP00000413970:Q805E;ENSP00000409664:Q732E	ENSP00000358400:Q805E	Q	-	1	0	MDN1	90528132	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	5.900000	0.69853	2.710000	0.92621	0.491000	0.48974	CAA		0.328	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	107	0	0	0	1	0	3	107					C	90471411	G	C	90471411	3	2	50	1	0	0	0	0	1	0	0	0	9415	1386	48	4	14721	4	MDN1	6	90471411	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		90471411	80643656	14	949											
RSBN1L	222194	broad.mit.edu	37	7	77408244	77408244	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:77408244T>C	ENST00000334955.8	+	8	2327	c.2300T>C	c.(2299-2301)gTg>gCg	p.V767A	RSBN1L_ENST00000445288.1_Missense_Mutation_p.V497A	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	767						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGAACCTGTGAATGTTAAT	0.308																																						uc010ldt.1																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2299-2301)gTg>gCg		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							67	63	64					7																	77408244		1837	4086	5923	SO:0001583	missense	222194					nucleus		g.chr7:77408244T>C	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2300T>C	7.37:g.77408244T>C	ENSP00000334040:p.Val767Ala		Somatic					p.V767A	NM_198467	NP_940869	WXS	Illumina GAIIx	Phase_I	Q6PCB5	RSBNL_HUMAN			7	2344	+			767					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.2300T>C	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	T	5.111	0.206157	0.09704	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	3.38	0.38709	.	0.663319	0.15121	N	0.279415	T	0.26376	0.0644	L	0.36672	1.1	0.20764	N	0.999854	B	0.27068	0.167	B	0.24394	0.053	T	0.28776	-1.0033	9	0.05351	T	0.99	-0.1811	8.2887	0.31943	0.0:0.0667:0.3857:0.5476	.	767	Q6PCB5	RSBNL_HUMAN	A	767;497	.	ENSP00000334040:V767A	V	+	2	0	RSBN1L	77246180	0.924000	0.31332	0.877000	0.34402	0.993000	0.82548	1.316000	0.33620	0.424000	0.26061	0.482000	0.46254	GTG		0.308	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		4	34	0	0	0	1	0	4	34					C	77408244	T	C	77408244	3	2	50	1	0	0	0	0	1	0	0	0	13697	1696	59	3	2330	3	RSBN1L	7	77408244	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08		77408244	81730419	15	950											
CTTNBP2	83992	broad.mit.edu	37	7	117432306	117432306	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:117432306T>C	ENST00000160373.3	-	4	1035	c.944A>G	c.(943-945)aAt>aGt	p.N315S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	315					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)		GTGGTCAGCATTTTCTGTCAC	0.473																																						uc003vjf.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.(943-945)aAt>aGt		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							181	175	177					7																	117432306		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432306T>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.944A>G	7.37:g.117432306T>C	ENSP00000160373:p.Asn315Ser		Somatic					p.N315S	NM_033427	NP_219499	WXS	Illumina GAIIx	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	1036	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		315					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.944A>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.644559	0.00111	.	.	ENSG00000077063	ENST00000160373	T	0.63913	-0.07	5.67	4.78	0.61160	.	0.444626	0.30920	N	0.008603	T	0.17323	0.0416	N	0.00092	-2.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	10	0.02654	T	1	-5.665	8.2497	0.31710	0.0:0.7352:0.1292:0.1356	.	315	Q8WZ74	CTTB2_HUMAN	S	315	ENSP00000160373:N315S	ENSP00000160373:N315S	N	-	2	0	CTTNBP2	117219542	0.933000	0.31639	0.021000	0.16686	0.001000	0.01503	1.832000	0.39151	0.865000	0.35603	-0.128000	0.14901	AAT		0.473	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		5	243	0	0	0	1	0	5	243					C	117432306	T	C	117432306	3	2	50	1	0	0	0	0	1	0	0	0	4045	1493	52	3	4127	3	CTTNBP2	7	117432306	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	40024062	117432306	41706357	16	951											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	36	0	0	0	1	0	22	36					T	140453136	A	T	140453136	3	4	50	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08	23020830	140453136	18685527	17	952											
PDCD1LG2	80380	broad.mit.edu	37	9	5534909	5534909	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr9:5534909A>G	ENST00000397747.3	+	3	468	c.220A>G	c.(220-222)Act>Gct	p.T74A	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T74A	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	74	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGAAAGAGCCACTTTGCTGGA	0.493																																						uc011lmc.2																			0				large_intestine(2)|lung(4)|prostate(2)	8						c.(220-222)Act>Gct		Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.							99	87	91					9																	5534909		2203	4300	6503	SO:0001583	missense	80380				T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5534909A>G	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	18731	protein-coding gene	gene with protein product	"B7 dendritic cell molecule"	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.220A>G	9.37:g.5534909A>G	ENSP00000380855:p.Thr74Ala		Somatic				PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.T74A|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.T74A|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.T74A|PDCD1LG2_uc010mho.1_Missense_Mutation_p.T74A	p.T74A	NM_025239	NP_079515	WXS	Illumina GAIIx	Phase_I	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	2	493	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	74			Ig-like V-type.		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	ENST00000397747.3	37	c.220A>G	CCDS6465.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936020	0.34189	.	.	ENSG00000197646	ENST00000397745;ENST00000397747	T;T	0.02552	4.25;4.25	5.73	3.4	0.38934	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.420318	0.24182	N	0.040800	T	0.04182	0.0116	M	0.67569	2.06	0.21967	N	0.999441	B;B;P;B;B	0.37141	0.424;0.424;0.584;0.003;0.424	B;B;B;B;B	0.37550	0.152;0.152;0.253;0.008;0.152	T	0.35943	-0.9768	10	0.23891	T	0.37	-6.2156	7.3094	0.26465	0.8268:0.0:0.1732:0.0	.	63;74;74;74;74	Q2LC89;A4GW21;Q9BQ51-3;Q9BQ51-2;Q9BQ51	.;.;.;.;PD1L2_HUMAN	A	74	ENSP00000380853:T74A;ENSP00000380855:T74A	ENSP00000380853:T74A	T	+	1	0	PDCD1LG2	5524909	0.000000	0.05858	0.781000	0.31783	0.952000	0.60782	0.320000	0.19540	0.455000	0.26910	-0.441000	0.05720	ACT		0.493	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		23	43	0	0	0	1	0	23	43					G	5534909	A	G	5534909	3	3	50	1	0	0	0	0	1	0	0	0	11618	159	6	3	226	3	PDCD1LG2	9	5534909	Missense_Mutation	SNP	A	TCGA-DE-A0XZ-01A-11D-A17V-08		5534909	135678522	18	953											
C12orf34	84915	broad.mit.edu	37	12	110206377	110206377	+	Missense_Mutation	SNP	G	G	A	rs200837548		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr12:110206377G>A	ENST00000538780.1	+	3	1359	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A215T	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	215	Pro-rich.																GGCCCCGGGCGCCGCACCCCC	0.711																																						uc001tpd.2																			0											c.(643-645)Gcc>Acc		Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA.							17	19	19					12																	110206377		2142	4198	6340	SO:0001583	missense	84915							g.chr12:110206377G>A	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.643G>A	12.37:g.110206377G>A	ENSP00000443292:p.Ala215Thr		Somatic				FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron	p.A215T	NM_032829	NP_116218	WXS	Illumina GAIIx	Phase_I	Q5U5X8	CL034_HUMAN			2	1205	+			215			Pro-rich.		Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.643G>A	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348054	0.24426	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.29655	1.56;1.56	3.82	2.83	0.33086	.	0.218641	0.23279	N	0.049922	T	0.18215	0.0437	N	0.22421	0.69	0.46203	D	0.998925	B	0.26400	0.148	B	0.22386	0.039	T	0.07635	-1.0762	10	0.51188	T	0.08	-6.8323	7.7831	0.29077	0.0:0.1394:0.629:0.2315	.	215	Q5U5X8	CL034_HUMAN	T	215	ENSP00000443292:A215T;ENSP00000351783:A215T	ENSP00000351783:A215T	A	+	1	0	C12orf34	108690760	0.070000	0.21116	0.441000	0.26858	0.987000	0.75469	0.897000	0.28390	1.989000	0.58080	0.491000	0.48974	GCC		0.711	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		6	71	0	0	0	1	0	6	71					A	110206377	G	A	110206377	3	1	50	1	0	0	0	0	1	0	0	0	1681	1087	38	1	649	1	C12orf34	12	110206377	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		110206377	23645518	19	954											
RXFP2	122042	broad.mit.edu	37	13	32371461	32371461	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr13:32371461C>A	ENST00000298386.2	+	17	1981	c.1910C>A	c.(1909-1911)gCa>gAa	p.A637E	RXFP2_ENST00000380314.1_Missense_Mutation_p.A613E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	637					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTGGCTGTTGCAAATCGTTTC	0.398																																						uc001utt.3																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1909-1911)gCa>gAa		Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.							211	208	209					13																	32371461		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32371461C>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1910C>A	13.37:g.32371461C>A	ENSP00000298386:p.Ala637Glu		Somatic				RXFP2_uc010aba.3_Missense_Mutation_p.A613E	p.A637E	NM_130806	NP_570718	WXS	Illumina GAIIx	Phase_I	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1981	+		Lung SC(185;0.0262)	637					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1910C>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399773	0.83120	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.74947	-0.89;-0.89	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.92122	3.275	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91443	0.5175	10	0.87932	D	0	.	16.0364	0.80631	0.1348:0.8652:0.0:0.0	.	613;637	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	613;637	ENSP00000369670:A613E;ENSP00000298386:A637E	ENSP00000298386:A637E	A	+	2	0	RXFP2	31269461	0.998000	0.40836	0.901000	0.35422	0.971000	0.66376	3.688000	0.54699	2.680000	0.91292	0.655000	0.94253	GCA		0.398	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		15	91	0	0	0	1	0	15	91					A	32371461	C	A	32371461	3	1	50	1	0	0	0	0	1	0	0	0	13760	710	25	4	1976	4	RXFP2	13	32371461	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		32371461	82798417	20	955											
DUOX2	50506	broad.mit.edu	37	15	45392355	45392355	+	Missense_Mutation	SNP	T	T	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr15:45392355T>G	ENST00000603300.1	-	24	3279	c.3077A>C	c.(3076-3078)cAa>cCa	p.Q1026P	DUOX2_ENST00000389039.6_Missense_Mutation_p.Q1026P	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1026	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAGCTTTTGGGCTAGGAA	0.587																																						uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3076-3078)cAa>cCa		Homo sapiens dual oxidase 2 (DUOX2), mRNA.							107	90	96					15																	45392355		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	g.chr15:45392355T>G	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3077A>C	15.37:g.45392355T>G	ENSP00000475084:p.Gln1026Pro		Somatic				DUOX2_uc010bea.3_Missense_Mutation_p.Q1026P	p.Q1026P	NM_014080	NP_054799	WXS	Illumina GAIIx	Phase_I	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	23	3280	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1026			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3077A>C	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247139	0.80024	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.45	3.15	0.36227	.	0.054732	0.85682	D	0.000000	T	0.61999	0.2392	M	0.76328	2.33	0.80722	D	1	D	0.54397	0.966	P	0.49421	0.61	T	0.61739	-0.7001	9	0.54805	T	0.06	-17.6706	9.0162	0.36170	0.0:0.1504:0.0:0.8496	.	1026	Q9NRD8	DUOX2_HUMAN	P	1026	.	ENSP00000373691:Q1026P	Q	-	2	0	DUOX2	43179647	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.148000	0.58085	0.385000	0.24970	-0.376000	0.06991	CAA		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		3	78	0	0	0	1	0	3	78					G	45392355	T	G	45392355	3	3	50	1	0	0	0	0	1	0	0	0	4801	1812	63	5	1613	5	DUOX2	15	45392355	Missense_Mutation	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08		45392355	57139037	21	956											
ADAT1	23536	broad.mit.edu	37	16	75634205	75634205	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr16:75634205G>A	ENST00000307921.3	-	11	1563	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	RP11-77K12.8_ENST00000564489.1_RNA|ADAT1_ENST00000568478.1_5'UTR	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	473	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.A473V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTAAGAGGACGCAGCCTCCTT	0.532																																						uc002feo.2																			1	Substitution - Missense(1)	p.A473V(2)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						c.(1417-1419)gCg>gTg		Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.							111	104	106					16																	75634205		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity	g.chr16:75634205G>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1418C>T	16.37:g.75634205G>A	ENSP00000310015:p.Ala473Val		Somatic				ADAT1_uc002fep.2_Missense_Mutation_p.A324V	p.A473V	NM_012091	NP_036223	WXS	Illumina GAIIx	Phase_I	Q9BUB4	ADAT1_HUMAN			10	1587	-			473			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.1418C>T	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193833	0.78902	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94862	-3.54	5.69	5.69	0.88448	Adenosine deaminase/editase (3);	0.099857	0.64402	D	0.000002	D	0.96399	0.8825	M	0.70842	2.15	0.49130	D	0.999757	D	0.76494	0.999	D	0.65684	0.937	D	0.95341	0.8438	10	0.35671	T	0.21	-4.4372	15.32	0.74115	0.0:0.0:1.0:0.0	.	473	Q9BUB4	ADAT1_HUMAN	V	473;444	ENSP00000310015:A473V	ENSP00000310015:A473V	A	-	2	0	ADAT1	74191706	0.996000	0.38824	0.202000	0.23494	0.812000	0.45895	5.924000	0.70054	2.677000	0.91161	0.655000	0.94253	GCG		0.532	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		31	72	0	0	0	1	0	31	72					A	75634205	G	A	75634205	3	1	50	1	0	0	0	0	1	0	0	0	284	1087	38	1	94	1	ADAT1	16	75634205	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		75634205	14720548	22	957											
HDAC5	10014	broad.mit.edu	37	17	42169608	42169608	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:42169608G>C	ENST00000393622.2	-	9	1295	c.964C>G	c.(964-966)Ccc>Gcc	p.P322A	HDAC5_ENST00000225983.6_Missense_Mutation_p.P323A|HDAC5_ENST00000336057.5_Missense_Mutation_p.P322A|HDAC5_ENST00000586802.1_Missense_Mutation_p.P322A	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	322					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)		GAGCTGTTGGGAGAGCTGGGG	0.642																																						uc002iff.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(967-969)Ccc>Gcc		Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.							103	101	101					17																	42169608		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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42169608G>C	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.964C>G	17.37:g.42169608G>C	ENSP00000377244:p.Pro322Ala		Somatic				HDAC5_uc002ifd.1_Missense_Mutation_p.P322A|HDAC5_uc002ife.1_Missense_Mutation_p.P322A|HDAC5_uc010czp.1_Missense_Mutation_p.P322A|HDAC5_uc002ifh.2_Missense_Mutation_p.P322A	p.P323A	NM_001015053	NP_001015053	WXS	Illumina GAIIx	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	8	1299	-		Breast(137;0.00637)|Prostate(33;0.0313)	322					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.967C>G	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345146	0.82022	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.64618	0.21;0.21;-0.11	4.42	4.42	0.53409	.	0.078059	0.51477	D	0.000087	T	0.79470	0.4451	M	0.81682	2.555	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.986;0.994;0.986	T	0.82114	-0.0617	10	0.54805	T	0.06	-16.8853	15.946	0.79792	0.0:0.0:1.0:0.0	.	322;322;323;322	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	A	323;322;322	ENSP00000225983:P323A;ENSP00000377244:P322A;ENSP00000337290:P322A	ENSP00000225983:P323A	P	-	1	0	HDAC5	39525134	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.343000	0.97047	2.283000	0.76528	0.462000	0.41574	CCC		0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		3	97	0	0	0	1	0	3	97					C	42169608	G	C	42169608	3	2	50	1	0	0	0	0	1	0	0	0	7010	1174	41	4	2480	4	HDAC5	17	42169608	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		42169608	39025602	23	958											
EVPL	2125	broad.mit.edu	37	17	74003919	74003919	+	Silent	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:74003919T>C	ENST00000301607.3	-	22	5620	c.5367A>G	c.(5365-5367)tcA>tcG	p.S1789S	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.S1811S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1789	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGATGGAGAGTGAGGAGCTTG	0.607																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5431-5433)tcA>tcG		Homo sapiens envoplakin (EVPL), mRNA.							88	90	89					17																	74003919		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003919T>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5367A>G	17.37:g.74003919T>C			Somatic				EVPL_uc002jqi.2_Silent_p.S1789S|EVPL_uc010wst.1_Silent_p.S1259S	p.S1811S	NM_001988	NP_001979	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			21	5661	-			1789			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5433A>G	CCDS11737.1																																																																																				0.607	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	74	0	0	0	1	0	4	74					C	74003919	T	C	74003919	2	2	50	1	0	0	0	0	0	0	0	1	5292	1683	59	3		3	EVPL	17	74003919	Silent	SNP	T	TCGA-DE-A0XZ-01A-11D-A17V-08	31834311	74003919	7191291	24	959											
SLC25A10	1468	broad.mit.edu	37	17	79683052	79683052	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:79683052G>A	ENST00000350690.5	+	5	477	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC25A10_ENST00000331531.5_Missense_Mutation_p.V131M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.V286M|SLC25A10_ENST00000545862.1_Missense_Mutation_p.V88M|SLC25A10_ENST00000571730.1_Missense_Mutation_p.V286M	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	131					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCAGAACGACGTGAAGCTGCC	0.701																																						uc010wut.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(856-858)Gtg>Atg		Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)						32	30	31					17																	79683052		2194	4294	6488	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79683052G>A		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.391G>A	17.37:g.79683052G>A	ENSP00000345580:p.Val131Met		Somatic				SLC25A10_uc002kbi.3_Missense_Mutation_p.V131M|SLC25A10_uc010dif.3_Missense_Mutation_p.V131M|SLC25A10_uc010wuu.2_Missense_Mutation_p.V85M	p.V286M	NM_012140	NP_036272	WXS	Illumina GAIIx	Phase_I	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		8	988	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		131					Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.856G>A	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	G	5.629	0.300816	0.10678	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.9	-3.85	0.04243	Mitochondrial carrier domain (2);	0.353469	0.31301	N	0.007888	T	0.60222	0.2252	N	0.21324	0.655	0.45464	D	0.998437	B;B;B	0.17038	0.012;0.02;0.007	B;B;B	0.17098	0.017;0.014;0.014	T	0.24261	-1.0165	10	0.44086	T	0.13	-9.8138	12.4186	0.55508	0.3972:0.0:0.6028:0.0	.	286;131;131	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	M	286;131;131;88	ENSP00000439565:V286M;ENSP00000328403:V131M;ENSP00000345580:V131M;ENSP00000446242:V88M	ENSP00000328403:V131M	V	+	1	0	SLC25A10	77293457	0.756000	0.28383	0.692000	0.30179	0.175000	0.22909	0.177000	0.16801	-0.852000	0.04141	0.205000	0.17691	GTG		0.701	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			7	14	0	0	0	1	0	7	14					A	79683052	G	A	79683052	3	1	50	1	0	0	0	0	1	0	0	0	14472	1145	40	1	409	1	SLC25A10	17	79683052	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	5679133	79683052	1512158	25	960											
SALL3	27164	broad.mit.edu	37	18	76754115	76754115	+	Silent	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr18:76754115G>A	ENST00000537592.2	+	2	2124	c.2124G>A	c.(2122-2124)aaG>aaA	p.K708K	SALL3_ENST00000575389.2_Silent_p.K708K|SALL3_ENST00000536229.3_Silent_p.K575K	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	708					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)		GGCCGTTCAAGTGCAAGATCT	0.667																																						uc002lmt.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.(2122-2124)aaG>aaA		Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.							35	33	34					18																	76754115		2203	4299	6502	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754115G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2124G>A	18.37:g.76754115G>A			Somatic				SALL3_uc010dra.3_Silent_p.K315K	p.K708K	NM_171999	NP_741996	WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2124	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	708					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2124G>A	CCDS12013.1																																																																																				0.667	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		27	37	0	0	0	1	0	27	37					A	76754115	G	A	76754115	2	1	50	1	0	0	0	0	0	0	0	1	13812	1020	36	2		2	SALL3	18	76754115	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		76754115	1323133	26	961											
PLIN5	440503	broad.mit.edu	37	19	4523617	4523617	+	Missense_Mutation	SNP	C	C	G	rs372681667		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:4523617C>G	ENST00000381848.3	-	8	1395	c.1315G>C	c.(1315-1317)Ggg>Cgg	p.G439R		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	439	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CAGATGTCCCCGGCAACACCC	0.692											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mas.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1315-1317)Ggg>Cgg		Homo sapiens perilipin 5 (PLIN5), mRNA.							79	91	87					19																	4523617		2044	4184	6228	SO:0001583	missense	440503					lipid particle		g.chr19:4523617C>G	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1315G>C	19.37:g.4523617C>G	ENSP00000371272:p.Gly439Arg		Somatic	OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619		p.G439R	NM_001013706	NP_001013728	WXS	Illumina GAIIx	Phase_I	Q00G26	PLIN5_HUMAN			7	1368	-			439					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1315G>C	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	4.121	0.020571	0.08006	.	.	ENSG00000214456	ENST00000381848	T	0.12255	2.7	3.97	2.93	0.34026	.	0.811422	0.10588	N	0.657055	T	0.09158	0.0226	N	0.19112	0.55	0.09310	N	0.999992	B	0.09022	0.002	B	0.10450	0.005	T	0.36114	-0.9761	10	0.31617	T	0.26	.	7.8486	0.29440	0.0:0.8805:0.0:0.1195	.	439	Q00G26	PLIN5_HUMAN	R	439	ENSP00000371272:G439R	ENSP00000371272:G439R	G	-	1	0	PLIN5	4474617	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	0.352000	0.20113	0.658000	0.30925	-0.221000	0.12465	GGG		0.692	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		76	157	0	0	0	1	0	76	157					G	4523617	C	G	4523617	3	3	50	1	0	0	0	0	1	0	0	0	12093	652	23	4	80	4	PLIN5	19	4523617	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08		4523617	54605366	27	962											
KIR3DL1	3811	broad.mit.edu	37	19	55341608	55341608	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:55341608G>A	ENST00000391728.4	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.V405I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.V310I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.V388I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.V388I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	405					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)		GGATCACTGCGTTTTCACACA	0.507																																						uc021vbm.1																			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.(1213-1215)Gtt>Att		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.							264	243	250					19																	55341608		2171	4170	6341	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55341608G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1213G>A	19.37:g.55341608G>A	ENSP00000375608:p.Val405Ile		Somatic				KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Missense_Mutation_p.V310I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V388I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V405I|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank|KIR3DL2_uc002qhm.1_5'Flank	p.V405I	NM_013289	NP_037421	WXS	Illumina GAIIx	Phase_I	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1246	+			405					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1213G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	3.877	-0.026815	0.07589	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00468	7.22;7.22;7.22;7.22;7.24	0.719	-0.563	0.11778	.	.	.	.	.	T	0.00356	0.0011	L	0.42529	1.33	0.09310	N	1	P;P;B	0.41008	0.703;0.735;0.358	B;B;B	0.37508	0.252;0.153;0.074	T	0.46190	-0.9209	8	0.72032	D	0.01	.	.	.	.	.	388;310;405	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	I	405;388;383;405;388;310	ENSP00000443350:V405I;ENSP00000442355:V388I;ENSP00000375608:V405I;ENSP00000326868:V388I;ENSP00000350901:V310I	ENSP00000326868:V388I	V	+	1	0	KIR3DL1	60033420	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.432000	0.06956	-0.229000	0.09854	0.184000	0.17185	GTT		0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		93	152	0	0	0	1	0	93	152					A	55341608	G	A	55341608	3	1	50	1	0	0	0	0	1	0	0	0	8320	1145	40	1	1247	1	KIR3DL1	19	55341608	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	50817991	55341608	3787375	28	963											
CCDC106	29903	broad.mit.edu	37	19	56160648	56160648	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:56160648C>G	ENST00000586790.1	+	2	1013	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	CCDC106_ENST00000588740.1_Missense_Mutation_p.L37V|CCDC106_ENST00000591578.1_Missense_Mutation_p.L37V|CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000308964.3_Missense_Mutation_p.L37V			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	37						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTTTTACAGTCTGAGCCCCTC	0.592																																						uc002qlr.3																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(109-111)Ctg>Gtg		Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.							109	107	108					19																	56160648		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160648C>G	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.109C>G	19.37:g.56160648C>G	ENSP00000465757:p.Leu37Val		Somatic				CCDC106_uc021vcc.1_Missense_Mutation_p.L37V|CCDC106_uc021vcd.1_Missense_Mutation_p.L37V|CCDC106_uc002qls.3_Missense_Mutation_p.L37V	p.L37V	NM_013301	NP_037433	WXS	Illumina GAIIx	Phase_I	Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	844	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	37					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.109C>G	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757177	0.49468	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.5	3.5	0.40072	.	0.000000	0.38720	N	0.001584	T	0.41811	0.1175	L	0.29908	0.895	0.80722	D	1	B	0.27229	0.172	B	0.26614	0.071	T	0.27706	-1.0066	9	0.23302	T	0.38	-31.6043	10.6973	0.45907	0.0:1.0:0.0:0.0	.	37	Q9BWC9	CC106_HUMAN	V	37	.	ENSP00000309681:L37V	L	+	1	2	CCDC106	60852460	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	2.652000	0.46682	1.981000	0.57761	0.561000	0.74099	CTG		0.592	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		3	150	0	0	0	1	0	3	150					G	56160648	C	G	56160648	3	3	50	1	0	0	0	0	1	0	0	0	2741	912	32	4	115	4	CCDC106	19	56160648	Missense_Mutation	SNP	C	TCGA-DE-A0XZ-01A-11D-A17V-08	819040	56160648	2968335	29	964											
ZBED1	9189	broad.mit.edu	37	X	2407561	2407561	+	Silent	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:2407561G>A	ENST00000381223.4	-	2	1403	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	ZBED1_ENST00000381222.2_Silent_p.L400L|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Silent_p.L400L|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	400					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				AGGGCTGCAGGAGCTCCACCA	0.637																																						uc004cqh.2																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1198-1200)ctC>ctT		Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 3, mRNA.		G	,,,	0,4406		0,0,2203	72	65	68		1200,1200,1200,	-6.1	0.0	X		68	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	,,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,,	400/695,400/695,400/695,	2407561	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407561G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1200C>T	X.37:g.2407561G>A			Somatic				DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqg.2_Silent_p.L400L|ZBED1_uc022brw.1_Silent_p.L400L|ZBED1_uc022brx.1_Silent_p.L400L	p.L400L	NM_001171135	NP_004720	WXS	Illumina GAIIx	Phase_I	O96006	ZBED1_HUMAN			1	1482	-		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)	400					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.1200C>T	CCDS14118.1																																																																																				0.637	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		17	63	0	0	0	1	0	17	63					A	2407561	G	A	2407561	2	1	50	1	0	0	0	0	0	0	0	1	17514	1161	41	2		2	ZBED1	23	2407561	Silent	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08		2407561	152862999	30	965											
TCEAL3	85012	broad.mit.edu	37	X	102864558	102864558	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:102864558G>A	ENST00000372628.1	+	3	924	c.566G>A	c.(565-567)aGg>aAg	p.R189K	TCEAL3_ENST00000243286.3_Missense_Mutation_p.R189K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R189K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGTGGAGGTAGGGGCCAGAGG	0.507																																						uc004ekq.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(565-567)aGg>aAg		Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 1, mRNA.							147	137	140					X																	102864558		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864558G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.566G>A	X.37:g.102864558G>A	ENSP00000361711:p.Arg189Lys		Somatic				TCEAL3_uc004ekr.3_Missense_Mutation_p.R189K|TCEAL3_uc022cbu.1_Missense_Mutation_p.R189K	p.R189K	NM_001006933	NP_116315	WXS	Illumina GAIIx	Phase_I	Q969E4	TCAL3_HUMAN			2	828	+			189					D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.566G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092544	0.36952	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.38077	1.16;1.16;1.16	4.59	3.73	0.42828	.	0.000000	0.41712	D	0.000824	T	0.18383	0.0441	N	0.14661	0.345	0.27528	N	0.951174	B	0.28512	0.214	B	0.20767	0.031	T	0.10109	-1.0644	10	0.36615	T	0.2	.	7.3982	0.26948	0.1171:0.0:0.8829:0.0	.	189	Q969E4	TCAL3_HUMAN	K	189	ENSP00000361711:R189K;ENSP00000361710:R189K;ENSP00000243286:R189K	ENSP00000243286:R189K	R	+	2	0	TCEAL3	102751214	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.205000	0.42770	1.273000	0.44346	0.538000	0.68166	AGG		0.507	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		12	190	0	0	0	1	0	12	190					A	102864558	G	A	102864558	3	1	50	1	0	0	0	0	1	0	0	0	15669	1000	35	2	568	2	TCEAL3	23	102864558	Missense_Mutation	SNP	G	TCGA-DE-A0XZ-01A-11D-A17V-08	100456997	102864558	52406002	31	966											
TGFBR3	7049	broad.mit.edu	37	1	92200373	92200373	+	Silent	SNP	T	T	C			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:92200373T>C	ENST00000525962.1	-	4	589	c.528A>G	c.(526-528)gaA>gaG	p.E176E	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.E176E|TGFBR3_ENST00000212355.4_Silent_p.E176E			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	176					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTATCTTGAGTTCGGTGAATG	0.378																																						uc001doh.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(526-528)gaA>gaG		Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.							179	182	181					1																	92200373		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92200373T>C	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.528A>G	1.37:g.92200373T>C			Somatic				TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.E134E|TGFBR3_uc001doi.3_Silent_p.E176E|TGFBR3_uc001doj.3_Silent_p.E176E	p.E176E	NM_003243	NP_003234	WXS	Illumina GAIIx	Phase_I	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	4	1043	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	176					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.528A>G	CCDS30770.1																																																																																				0.378	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		13	308	0	0	0	1	0	13	308					C	92200373	T	C	92200373	2	2	51	1	0	0	0	0	0	0	0	1	15820	1722	60	3		3	TGFBR3	1	92200373	Silent	SNP	T	TCGA-DE-A0Y2-01A-11D-A10S-08		92200373	157050248	1	967											
OVGP1	5016	broad.mit.edu	37	1	111965622	111965622	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:111965622G>C	ENST00000369732.3	-	6	590	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Missense_Mutation_p.L119V	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	179					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACAGCAGCAGCCTCGGGCGC	0.542																																						uc001eba.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(535-537)Ctg>Gtg		Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.							143	138	140					1																	111965622		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111965622G>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.535C>G	1.37:g.111965622G>C	ENSP00000358747:p.Leu179Val		Somatic				OVGP1_uc001eaz.3_Missense_Mutation_p.L141V|OVGP1_uc010owb.2_5'UTR	p.L179V	NM_002557	NP_002548	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	5	591	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	179					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.535C>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453217	0.63290	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.06371	3.31;3.31	4.74	4.74	0.60224	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	T	0.20333	0.0489	M	0.87381	2.88	0.44523	D	0.997474	P;D	0.76494	0.877;0.999	D;D	0.87578	0.912;0.998	T	0.01561	-1.1324	10	0.87932	D	0	-4.9683	13.2091	0.59815	0.0:0.0:1.0:0.0	.	179;243	Q12889;Q59HH5	OVGP1_HUMAN;.	V	179;243;119	ENSP00000358747:L179V;ENSP00000438449:L119V	ENSP00000358743:L243V	L	-	1	2	OVGP1	111767145	0.996000	0.38824	0.996000	0.52242	0.616000	0.37450	2.458000	0.45014	2.176000	0.68965	0.591000	0.81541	CTG		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		110	106	0	0	0	1	0	110	106					C	111965622	G	C	111965622	3	2	51	1	0	0	0	0	1	0	0	0	11325	962	34	4	1525	4	OVGP1	1	111965622	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	19765249	111965622	137284999	2	968											
TRAF3IP3	80342	broad.mit.edu	37	1	209933458	209933458	+	Missense_Mutation	SNP	G	G	C	rs372493792	byFrequency	TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr1:209933458G>C	ENST00000367024.1	+	3	590	c.74G>C	c.(73-75)cGc>cCc	p.R25P	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R25P			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	25						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)		AAGTGTGAGCGCAGGCAAGAG	0.627																																						uc001hho.3																			0		p.R25C(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(73-75)cGc>cCc		Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.							32	33	32					1																	209933458		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933458G>C		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.74G>C	1.37:g.209933458G>C	ENSP00000355991:p.Arg25Pro		Somatic				TRAF3IP3_uc001hhm.2_Missense_Mutation_p.R25P|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.R25P|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.R25P	p.R25P	NM_025228	NP_079504	WXS	Illumina GAIIx	Phase_I	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	2	494	+			25					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.74G>C	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598904	0.87055	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000479796;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.70749	-0.51;0.45;-0.36;0.45;-0.36	5.66	5.66	0.87406	.	0.149239	0.38548	N	0.001642	D	0.82628	0.5078	M	0.67953	2.075	0.45899	D	0.998746	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	D	0.83973	0.0328	10	0.87932	D	0	-11.3909	15.2561	0.73585	0.0:0.0:1.0:0.0	.	25;25;25;25	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	P	25	ENSP00000383743:R25P;ENSP00000355992:R25P;ENSP00000355993:R25P;ENSP00000355991:R25P;ENSP00000010338:R25P	ENSP00000010338:R25P	R	+	2	0	TRAF3IP3	208000081	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.941000	0.63540	2.665000	0.90641	0.655000	0.94253	CGC		0.627	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			4	49	0	0	0	1	0	4	49					C	209933458	G	C	209933458	3	2	51	1	0	0	0	0	1	0	0	0	16439	1087	38	4	76	4	TRAF3IP3	1	209933458	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	97967836	209933458	39317163	3	969											
FAM84A	151354	broad.mit.edu	37	2	14774447	14774447	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:14774447C>T	ENST00000295092.2	+	2	632	c.344C>T	c.(343-345)gCg>gTg	p.A115V	FAM84A_ENST00000331243.4_Missense_Mutation_p.A115V|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	115										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GCGGTCACCGCGCTGCCAGCG	0.692																																						uc002rbz.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(343-345)gCg>gTg		Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.							8	9	9					2																	14774447		2155	4213	6368	SO:0001583	missense	151354							g.chr2:14774447C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"neurological/sensory 1"	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.344C>T	2.37:g.14774447C>T	ENSP00000295092:p.Ala115Val		Somatic				FAM84A_uc021ved.1_Missense_Mutation_p.A115V|AX747684_uc002rca.1_5'Flank	p.A115V	NM_145175	NP_660158	WXS	Illumina GAIIx	Phase_I	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		1	632	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		115					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.344C>T	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570217	0.65765	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.03607	3.87;3.87	4.96	4.96	0.65561	.	0.165665	0.53938	D	0.000052	T	0.03263	0.0095	L	0.29908	0.895	0.41696	D	0.989373	P	0.47604	0.898	B	0.35727	0.209	T	0.56517	-0.7966	10	0.45353	T	0.12	-22.5188	13.3278	0.60469	0.0:0.8415:0.1585:0.0	.	115	Q96KN4	FA84A_HUMAN	V	115	ENSP00000295092:A115V;ENSP00000330681:A115V	ENSP00000295092:A115V	A	+	2	0	FAM84A	14691898	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.426000	0.82243	0.655000	0.94253	GCG		0.692	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		5	14	0	0	0	1	0	5	14					T	14774447	C	T	14774447	3	4	51	1	0	0	0	0	1	0	0	0	5641	768	27	1	346	1	FAM84A	2	14774447	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		14774447	228424926	4	970											
LMAN2L	81562	broad.mit.edu	37	2	97405604	97405604	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr2:97405604C>T	ENST00000264963.4	-	1	196	c.174G>A	c.(172-174)tcG>tcA	p.S58S	LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S|LMAN2L_ENST00000534882.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	58	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGTAGGGCTTCGACAGCGAGT	0.627																																						uc002swv.3																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(172-174)tcG>tcA		Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.							65	62	63					2																	97405604		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97405604C>T	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.174G>A	2.37:g.97405604C>T			Somatic				LMAN2L_uc002swu.3_Silent_p.S58S|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_5'UTR|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_5'UTR|LMAN2L_uc010yux.2_5'UTR	p.S58S	NM_001142292	NP_001135764	WXS	Illumina GAIIx	Phase_I	Q9H0V9	LMA2L_HUMAN			0	210	-			58			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.174G>A	CCDS2023.1																																																																																				0.627	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		33	51	0	0	0	1	0	33	51					T	97405604	C	T	97405604	2	4	51	1	0	0	0	0	0	0	0	1	8839	871	31	1		1	LMAN2L	2	97405604	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	82631157	97405604	145793769	5	971											
DGKG	1608	broad.mit.edu	37	3	185929649	185929649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr3:185929649C>A	ENST00000265022.3	-	21	2391	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	DGKG_ENST00000382164.4_Nonsense_Mutation_p.E579*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.E593*|DGKG_ENST00000544847.1_Nonsense_Mutation_p.E559*	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	618					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTGCCAAATTCAAAGTACCAC	0.453																																						uc003fqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1852-1854)Gaa>Taa		Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						121	116	118					3																	185929649		2203	4300	6503	SO:0001587	stop_gained	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185929649C>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1852G>T	3.37:g.185929649C>A	ENSP00000265022:p.Glu618*		Somatic				DGKG_uc003fqb.3_Nonsense_Mutation_p.E579*|DGKG_uc003fqc.3_Nonsense_Mutation_p.E593*|DGKG_uc011brx.2_Nonsense_Mutation_p.E559*	p.E618*	NM_001346	NP_001337	WXS	Illumina GAIIx	Phase_I	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	20	2389	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		618					B2RAH4|Q2M1H4|Q5FWG1	Nonsense_Mutation	SNP	ENST00000265022.3	37	c.1852G>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	45	11.886417	0.99614	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	.	.	.	5.93	5.93	0.95920	.	0.108349	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1151	0.93334	0.0:1.0:0.0:0.0	.	.	.	.	X	618;593;579;559;582	.	ENSP00000265022:E618X	E	-	1	0	DGKG	187412343	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.431000	0.80335	2.802000	0.96397	0.563000	0.77884	GAA		0.453	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			4	100	0	0	0	1	0	4	100					A	185929649	C	A	185929649	4	1	51	1	0	0	0	0	0	1	0	0	4469	835	29	4	543	4	DGKG	3	185929649	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		185929649	12092781	6	972											
RIOK2	55781	broad.mit.edu	37	5	96498929	96498929	+	Splice_Site	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr5:96498929C>T	ENST00000283109.3	-	10	1563	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	499	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTCACCAGTTCCTGGAAAGAT	0.328																																						uc003kmz.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.e10-1		Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.							90	81	84					5																	96498929		2202	4299	6501	SO:0001630	splice_region_variant	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96498929C>T	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1495-1G>A	5.37:g.96498929C>T			Somatic					p.E499_splice	NM_018343	NP_060813	WXS	Illumina GAIIx	Phase_I	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	10	1605	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	499			Protein kinase.		D6RDI3|Q9NUT0	Splice_Site	SNP	ENST00000283109.3	37	c.1495_splice	CCDS4089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.699654|4.699654	0.88830|0.88830	.|.	.|.	ENSG00000058729|ENSG00000058729	ENST00000283109|ENST00000511293	T|.	0.25579|.	1.79|.	5.7|5.7	4.82|4.82	0.62117|0.62117	.|.	0.148942|.	0.64402|.	D|.	0.000017|.	T|T	0.69495|0.69495	0.3117|0.3117	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.49961|.	0.93|.	B|.	0.38985|.	0.287|.	T|T	0.67273|0.67273	-0.5712|-0.5712	10|5	0.46703|.	T|.	0.11|.	-7.7547|-7.7547	14.758|14.758	0.69583|0.69583	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	499|.	Q9BVS4|.	RIOK2_HUMAN|.	K|K	499|105	ENSP00000283109:E499K|.	ENSP00000283109:E499K|.	E|R	-|-	1|2	0|0	RIOK2|RIOK2	96524685|96524685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.796000|0.796000	0.44982|0.44982	5.691000|5.691000	0.68249|0.68249	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.328	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343	Missense_Mutation	39	49	0	0	0	1	0	39	49					T	96498929	C	T	96498929	5	4	51	1	0	0	0	0	0	0	1	0	13378	869	30	2	167	2	RIOK2	5	96498929	Splice_Site	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		96498929	84416331	7	973											
THEMIS	387357	broad.mit.edu	37	6	128134235	128134238	+	Frame_Shift_Del	DEL	ACTA	ACTA	-	rs150659844		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr6:128134235_128134238delACTA	ENST00000368248.2	-	4	1696_1699	c.1548_1551delTAGT	c.(1546-1551)gttagtfs	p.VS516fs	THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000368250.1_Frame_Shift_Del_p.VS437fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	516	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAGAAATTACTAACTAACTGAA	0.441																																						uc011ebt.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1546-1551)gttagtfs		Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	387357				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		g.chr6:128134235_128134238delACTA	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1548_1551delTAGT	6.37:g.128134239_128134242delACTA	ENSP00000357231:p.Val516fs		Somatic				THEMIS_uc010kfa.3_Frame_Shift_Del_p.V419fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V516fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V481fs	p.V516fs	NM_001164685	NP_001158157	WXS	Illumina GAIIx	Phase_I	Q8N1K5	THMS1_HUMAN			3	1697_1700	-			516			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Del	DEL	ENST00000368248.2	37	c.1548_1551delTAGT	CCDS34534.1																																																																																				0.441	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		50	76						50	76	---	---	---	---	-	128134238	ACTA	-	128134235	7	5	51	1	0	1	0	1	0	0	0	0	15857	388	14	0	507	0	THEMIS	6	128134235	Frame_Shift_Del	DEL	ACTA	TCGA-DE-A0Y2-01A-11D-A10S-08		128134235	42980832	8	974											
MOS	4342	broad.mit.edu	37	8	57026479	57026479	+	Silent	SNP	C	C	T	rs374238566		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:57026479C>T	ENST00000311923.1	-	1	62	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	21					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.A21A(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGCAGGGCCGCGCGTCCACCG	0.706																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.2																			1	Substitution - coding silent(1)	p.A21A(2)	lung(1)	breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(61-63)gcG>gcA		Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.		C		2,4394		0,2,2196	17	20	19		63	-1.6	0.4	8		19	0,8584		0,0,4292	no	coding-synonymous	MOS	NM_005372.1		0,2,6488	TT,TC,CC		0.0,0.0455,0.0154		21/347	57026479	2,12978	2198	4292	6490	SO:0001819	synonymous_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026479C>T		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.63G>A	8.37:g.57026479C>T			Somatic					p.A21A	NM_005372	NP_005363	WXS	Illumina GAIIx	Phase_I	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		0	63	-			21					Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	c.63G>A	CCDS6164.1																																																																																				0.706	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		23	36	0	0	0	1	0	23	36					T	57026479	C	T	57026479	2	4	51	1	0	0	0	0	0	0	0	1	9712	755	27	1		1	MOS	8	57026479	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		57026479	89337543	9	975											
PLEC	5339	broad.mit.edu	37	8	145009091	145009091	+	Frame_Shift_Del	DEL	G	G	-	rs137853160		TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr8:145009091delG	ENST00000322810.4	-	9	1412	c.1243delC	c.(1243-1245)cagfs	p.Q415fs	PLEC_ENST00000356346.3_Frame_Shift_Del_p.Q264fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.Q301fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.Q246fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.Q305fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.Q256fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.Q282fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.Q278fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	415	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			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						CAGCGCAGCTGCAGCTCCTGC	0.706																																						uc003zaf.1																			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	GRCh37	CM050308	PLEC	M	rs137853160	c.(1243-1245)cagfs		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							17	25	22					8																	145009091		2047	4182	6229	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145009091delG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1243delC	8.37:g.145009091delG	ENSP00000323856:p.Gln415fs		Somatic				PLEC_uc003zab.1_Frame_Shift_Del_p.Q278fs|PLEC_uc003zac.1_Frame_Shift_Del_p.Q282fs|PLEC_uc003zad.2_Frame_Shift_Del_p.Q278fs|PLEC_uc003zae.1_Frame_Shift_Del_p.Q246fs|PLEC_uc003zag.1_Frame_Shift_Del_p.Q256fs|PLEC_uc003zah.2_Frame_Shift_Del_p.Q264fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.Q305fs	p.Q415fs	NM_201380	NP_958782	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			8	1413	-			415			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.1243delC	CCDS43772.1																																																																																				0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		19	31						19	31	---	---	---	---	-	145009091	G	-	145009091	7	5	51	1	0	1	0	1	0	0	0	0	12052	1328	46	0	12907	0	PLEC	8	145009091	Frame_Shift_Del	DEL	G	TCGA-DE-A0Y2-01A-11D-A10S-08	87982612	145009091	1354931	10	976											
ZFAND5	7763	broad.mit.edu	37	9	74971943	74971943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:74971943G>A	ENST00000237937.3	-	5	954	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133*	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	133					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q133*(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTACTGGGCTGAGAAACTGAT	0.383																																						uc010moy.1																			1	Substitution - Nonsense(1)	p.Q133*(2)|p.Q133Q(1)	kidney(1)	cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(397-399)Cag>Tag		Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA.							109	100	103					9																	74971943		2203	4299	6502	SO:0001587	stop_gained	7763						DNA binding|zinc ion binding	g.chr9:74971943G>A	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.397C>T	9.37:g.74971943G>A	ENSP00000237937:p.Gln133*		Somatic				ZFAND5_uc010mox.1_Nonsense_Mutation_p.Q30*|ZFAND5_uc004aix.2_Nonsense_Mutation_p.Q133*|ZFAND5_uc004aiw.2_Nonsense_Mutation_p.Q133*|ZFAND5_uc004aiy.2_Nonsense_Mutation_p.Q133*	p.Q133*	NM_006007	NP_005998	WXS	Illumina GAIIx	Phase_I	O76080	ZFAN5_HUMAN			4	678	-			133					A8K484	Nonsense_Mutation	SNP	ENST00000237937.3	37	c.397C>T	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	G	40	8.252544	0.98727	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.17	6.17	0.99709	.	0.377447	0.33092	N	0.005282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-4.3916	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;133;133;185	.	ENSP00000237937:Q133X	Q	-	1	0	ZFAND5	74161763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.747000	0.47475	2.941000	0.99782	0.655000	0.94253	CAG		0.383	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			35	51	0	0	0	1	0	35	51					A	74971943	G	A	74971943	4	1	51	1	0	0	0	0	0	1	0	0	17627	1299	45	2	252	2	ZFAND5	9	74971943	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		74971943	66241488	11	977											
TDRD7	23424	broad.mit.edu	37	9	100245294	100245294	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:100245294C>T	ENST00000355295.4	+	15	2871	c.2576C>T	c.(2575-2577)tCt>tTt	p.S859F	TDRD7_ENST00000422139.2_Missense_Mutation_p.S785F|TDRD7_ENST00000540902.1_Missense_Mutation_p.S179F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	859					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GGAGCTGACTCTCCCAACAGC	0.463																																						uc004axj.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2575-2577)tCt>tTt		Homo sapiens tudor domain containing 7 (TDRD7), mRNA.							82	77	79					9																	100245294		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100245294C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2576C>T	9.37:g.100245294C>T	ENSP00000347444:p.Ser859Phe		Somatic				TDRD7_uc011lux.2_Missense_Mutation_p.S785F|TDRD7_uc010msp.1_Missense_Mutation_p.S111F|TDRD7_uc011luy.2_Missense_Mutation_p.S179F	p.S859F	NM_014290	NP_055105	WXS	Illumina GAIIx	Phase_I	Q8NHU6	TDRD7_HUMAN			14	2801	+		Acute lymphoblastic leukemia(62;0.158)	859					A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.2576C>T	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387522	0.25031	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.24151	2.65;2.65;1.87	5.44	4.5	0.54988	.	0.734758	0.13008	N	0.421118	T	0.20941	0.0504	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14012	0.002;0.009;0.002	B;B;B	0.18561	0.006;0.022;0.003	T	0.13202	-1.0518	10	0.39692	T	0.17	-5.7087	8.9495	0.35781	0.0:0.8177:0.0:0.1823	.	179;785;859	Q8NHU6-3;Q8NHU6-2;Q8NHU6	.;.;TDRD7_HUMAN	F	859;785;179	ENSP00000347444:S859F;ENSP00000413608:S785F;ENSP00000440717:S179F	ENSP00000347444:S859F	S	+	2	0	TDRD7	99285115	0.000000	0.05858	0.170000	0.22879	0.610000	0.37248	0.522000	0.22909	1.539000	0.49286	0.650000	0.86243	TCT		0.463	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		40	51	0	0	0	1	0	40	51					T	100245294	C	T	100245294	3	4	51	1	0	0	0	0	1	0	0	0	15732	913	32	2	2630	2	TDRD7	9	100245294	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	25273351	100245294	40968137	12	978											
SARDH	1757	broad.mit.edu	37	9	136529067	136529067	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr9:136529067C>T	ENST00000371872.4	-	21	2958	c.2701G>A	c.(2701-2703)Gct>Act	p.A901T	SARDH_ENST00000422262.2_Missense_Mutation_p.A733T|SARDH_ENST00000371868.1_Missense_Mutation_p.A351T|SARDH_ENST00000439388.1_Missense_Mutation_p.A901T|SARDH_ENST00000469828.1_5'Flank	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	901					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TTCAGGTGAGCCTGGGCACCA	0.577																																						uc004cep.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2701-2703)Gct>Act		Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							173	132	146					9																	136529067		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136529067C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2701G>A	9.37:g.136529067C>T	ENSP00000360938:p.Ala901Thr		Somatic				SARDH_uc004ceo.3_Missense_Mutation_p.A901T|SARDH_uc011mdo.2_Missense_Mutation_p.A733T|SARDH_uc011mdn.2_Missense_Mutation_p.A901T|SARDH_uc004cen.3_Missense_Mutation_p.A351T	p.A901T	NM_001134707	NP_009032	WXS	Illumina GAIIx	Phase_I	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	20	2835	-			901					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2701G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043856	0.36085	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.81247	-0.7;-1.47;-0.7;-1.1	4.69	4.69	0.59074	.	0.063397	0.64402	D	0.000006	T	0.81678	0.4873	M	0.74881	2.28	0.80722	D	1	B;B	0.31485	0.325;0.325	B;B	0.32677	0.075;0.15	D	0.83484	0.0066	10	0.66056	D	0.02	-4.0099	17.5989	0.88020	0.0:1.0:0.0:0.0	.	901;351	Q9UL12;Q5SYV2	SARDH_HUMAN;.	T	901;351;901;733	ENSP00000360938:A901T;ENSP00000360934:A351T;ENSP00000403084:A901T;ENSP00000415537:A733T	ENSP00000360934:A351T	A	-	1	0	SARDH	135518888	1.000000	0.71417	0.774000	0.31636	0.010000	0.07245	6.779000	0.75057	2.337000	0.79520	0.561000	0.74099	GCT		0.577	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	140	0	0	0	1	0	7	140					T	136529067	C	T	136529067	3	4	51	1	0	0	0	0	1	0	0	0	13841	739	26	2	59	2	SARDH	9	136529067	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	36283773	136529067	4684364	13	979											
FBXO18	84893	broad.mit.edu	37	10	5948520	5948520	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:5948520C>T	ENST00000362091.4	+	3	793	c.678C>T	c.(676-678)ttC>ttT	p.F226F	FBXO18_ENST00000379999.5_Silent_p.F277F|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	226					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTTTGCCTTCCTCCCGGTGG	0.572																																						uc001iit.3																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(829-831)ttC>ttT		Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.							87	75	79					10																	5948520		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948520C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.678C>T	10.37:g.5948520C>T			Somatic				FBXO18_uc001iir.3_Silent_p.F152F|FBXO18_uc001iis.3_Silent_p.F226F|FBXO18_uc009xig.3_Silent_p.F152F	p.F277F	NM_032807	NP_835363	WXS	Illumina GAIIx	Phase_I	Q8NFZ0	FBX18_HUMAN			3	935	+			226					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.831C>T	CCDS7072.1																																																																																				0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		7	142	0	0	0	1	0	7	142					T	5948520	C	T	5948520	2	4	51	1	0	0	0	0	0	0	0	1	5731	854	30	2		2	FBXO18	10	5948520	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		5948520	129586227	14	980											
JMJD1C	221037	broad.mit.edu	37	10	64967027	64967027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:64967027G>A	ENST00000399262.2	-	10	4620	c.4402C>T	c.(4402-4404)Caa>Taa	p.Q1468*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1249*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q1249*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1286*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1468					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAACTGGGTTGAACAACACTT	0.433																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4402-4404)Caa>Taa		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							99	98	99					10																	64967027		1973	4179	6152	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967027G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4402C>T	10.37:g.64967027G>A	ENSP00000382204:p.Gln1468*		Somatic				JMJD1C_uc001jml.3_Nonsense_Mutation_p.Q1249*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.Q1180*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.Q1286*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.Q1286*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q505*	p.Q1468*	NM_032776	NP_116165	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			9	4702	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1468					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.4402C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	49	14.964999	0.99817	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.6	5.6	0.85130	.	0.362700	0.31041	N	0.008373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.5211	19.6028	0.95570	0.0:0.0:1.0:0.0	.	.	.	.	X	1468;1249;1249;1286	.	ENSP00000382195:Q1249X	Q	-	1	0	JMJD1C	64637033	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	9.520000	0.98027	2.648000	0.89879	0.591000	0.81541	CAA		0.433	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		76	98	0	0	0	1	0	76	98					A	64967027	G	A	64967027	4	1	51	1	0	0	0	0	0	1	0	0	7950	1299	45	2	3288	2	JMJD1C	10	64967027	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	59018507	64967027	70567720	15	981											
GPR120	338557	broad.mit.edu	37	10	95326832	95326832	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr10:95326832A>G	ENST00000371483.4	+	1	411	c.355A>G	c.(355-357)Acc>Gcc	p.T119A	FFAR4_ENST00000604414.1_Missense_Mutation_p.T119A|FFAR4_ENST00000371481.4_Missense_Mutation_p.T119A	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	119					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										CTACGTGATGACCCTGAGCGG	0.687																																						uc010qnt.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						c.(355-357)Acc>Gcc		Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.							34	33	33					10																	95326832		2203	4298	6501	SO:0001583	missense	338557				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	g.chr10:95326832A>G		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.355A>G	10.37:g.95326832A>G	ENSP00000360538:p.Thr119Ala		Somatic				O3FAR1_uc010qnu.2_Missense_Mutation_p.T119A	p.T119A	NM_181745	NP_859529	WXS	Illumina GAIIx	Phase_I	Q5NUL3	O3FA1_HUMAN			0	411	+			119					Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.355A>G	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887611	0.33348	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.72167	-0.63;-0.63	5.22	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.570043	0.18631	N	0.135599	T	0.50205	0.1602	N	0.21194	0.64	0.24740	N	0.993044	B;B	0.28128	0.073;0.201	B;B	0.21360	0.02;0.034	T	0.25813	-1.0121	10	0.16420	T	0.52	-10.6404	10.548	0.45070	0.4934:0.0:0.0:0.5066	.	119;119	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	A	119	ENSP00000360536:T119A;ENSP00000360538:T119A	ENSP00000360536:T119A	T	+	1	0	O3FAR1	95316822	0.979000	0.34478	0.888000	0.34837	0.961000	0.63080	1.317000	0.33631	0.079000	0.16929	0.459000	0.35465	ACC		0.687	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		18	24	0	0	0	1	0	18	24					G	95326832	A	G	95326832	3	3	51	1	0	0	0	0	1	0	0	0	6636	275	10	3	357	3	GPR120	10	95326832	Missense_Mutation	SNP	A	TCGA-DE-A0Y2-01A-11D-A10S-08	30359805	95326832	40207915	16	982											
LPAR6	10161	broad.mit.edu	37	13	48985608	48985608	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:48985608C>T	ENST00000378434.4	-	7	2576	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.E318K	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						CCATGAACTTCAGAGAATCTG	0.343																																						uc010acu.3																			19	Whole gene deletion(15)|Unknown(4)	p.0?(15)|p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(952-954)Gaa>Aaa		Homo sapiens lysophosphatidic acid receptor 6 (LPAR6), transcript variant 3, mRNA.							78	83	81					13																	48985608		2203	4300	6503	SO:0001583	missense	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985608C>T	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	15520	protein-coding gene	gene with protein product		609239	"purinergic receptor P2Y, G-protein coupled, 5"	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.952G>A	13.37:g.48985608C>T	ENSP00000367691:p.Glu318Lys		Somatic				RB1_uc001vcb.3_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.3_Missense_Mutation_p.E318K|LPAR6_uc001vcf.3_Missense_Mutation_p.E318K	p.E318K	NM_001162498	NP_005758	WXS	Illumina GAIIx	Phase_I	P43657	LPAR6_HUMAN			0	2046	-			318					A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	c.952G>A	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196993	0.38806	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.63580	-0.05;-0.05	5.46	5.46	0.80206	.	0.234774	0.41097	D	0.000958	T	0.39091	0.1065	N	0.08118	0	0.48087	D	0.999581	B	0.10296	0.003	B	0.08055	0.003	T	0.31668	-0.9935	10	0.09084	T	0.74	.	13.919	0.63919	0.0:0.9269:0.0:0.0731	.	318	P43657	LPAR6_HUMAN	K	318	ENSP00000367691:E318K;ENSP00000344353:E318K	ENSP00000344353:E318K	E	-	1	0	LPAR6	47883609	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.760000	0.55235	2.713000	0.92767	0.455000	0.32223	GAA		0.343	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767		66	87	0	0	0	1	0	66	87					T	48985608	C	T	48985608	3	4	51	1	0	0	0	0	1	0	0	0	8909	835	29	2	86	2	LPAR6	13	48985608	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		48985608	66184270	17	983											
TGDS	23483	broad.mit.edu	37	13	95248340	95248340	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr13:95248340C>T	ENST00000261296.5	-	1	171	c.51G>A	c.(49-51)gcG>gcA	p.A17A	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	17					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GGACCCGCTTCGCAAAGCCGC	0.607																																						uc001vlw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(49-51)gcG>gcA		Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.							39	41	40					13																	95248340		2203	4300	6503	SO:0001819	synonymous_variant	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95248340C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.51G>A	13.37:g.95248340C>T			Somatic					p.A17A	NM_014305	NP_055120	WXS	Illumina GAIIx	Phase_I	O95455	TGDS_HUMAN			0	172	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		17					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Silent	SNP	ENST00000261296.5	37	c.51G>A	CCDS9471.1																																																																																				0.607	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		23	25	0	0	0	1	0	23	25					T	95248340	C	T	95248340	2	4	51	1	0	0	0	0	0	0	0	1	15811	871	31	1		1	TGDS	13	95248340	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	46262732	95248340	19921538	18	984											
POMT2	29954	broad.mit.edu	37	14	77778315	77778315	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778315C>G	ENST00000261534.4	-	2	512	c.310G>C	c.(310-312)Gat>Cat	p.D104H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	104						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGGTGCACATCAAAGAAAAAT	0.433																																						uc001xti.2																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(310-312)Gat>Cat		Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.							54	55	55					14																	77778315		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77778315C>G	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.310G>C	14.37:g.77778315C>G	ENSP00000261534:p.Asp104His		Somatic				POMT2_uc010asr.2_Intron	p.D104H	NM_013382	NP_037514	WXS	Illumina GAIIx	Phase_I	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	1	511	-			104					Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.310G>C	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049709	0.93740	.	.	ENSG00000009830	ENST00000261534;ENST00000554948	D;D	0.88046	-2.33;-2.33	5.86	5.86	0.93980	Glycosyl transferase, family 39 (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97249	0.9896	10	0.87932	D	0	-16.6486	19.7736	0.96383	0.0:1.0:0.0:0.0	.	104	Q9UKY4	POMT2_HUMAN	H	104;13	ENSP00000261534:D104H;ENSP00000452060:D13H	ENSP00000261534:D104H	D	-	1	0	POMT2	76848068	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.130000	0.77235	2.773000	0.95371	0.655000	0.94253	GAT		0.433	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		15	41	0	0	0	1	0	15	41					G	77778315	C	G	77778315	3	3	51	1	0	0	0	0	1	0	0	0	12246	826	29	4	2022	4	POMT2	14	77778315	Missense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		77778315	29571225	19	985			1	5		2	2	53	C		4.367287e-05
POMT2	29954	broad.mit.edu	37	14	77778367	77778367	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr14:77778367C>T	ENST00000261534.4	-	2	460	c.258G>A	c.(256-258)gaG>gaA	p.E86E		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	86						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CAAAGTGAGTCTCATCCCAAC	0.373																																						uc001xti.2																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(256-258)gaG>gaA		Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.							54	55	55					14																	77778367		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77778367C>T	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.258G>A	14.37:g.77778367C>T			Somatic				POMT2_uc010asr.2_Intron	p.E86E	NM_013382	NP_037514	WXS	Illumina GAIIx	Phase_I	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	1	459	-			86					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.258G>A	CCDS9857.1																																																																																				0.373	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		20	36	0	0	0	1	0	20	36					T	77778367	C	T	77778367	2	4	51	1	0	0	0	0	0	0	0	1	12246	912	32	2		2	POMT2	14	77778367	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08	52	77778367	29571173	20	986			1	5		2	2	53	C		4.367287e-05
ATP10A	57194	broad.mit.edu	37	15	26107935	26107935	+	Silent	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr15:26107935C>T	ENST00000356865.6	-	1	420	c.309G>A	c.(307-309)gtG>gtA	p.V103V	RP11-2C7.1_ENST00000557558.1_lincRNA|ATP10A_ENST00000553577.1_5'Flank	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	103					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGGCGTTCACCGCCGGCA	0.652																																						uc010ayu.3																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(307-309)gtG>gtA		Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.							55	44	48					15																	26107935		2202	4298	6500	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26107935C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.309G>A	15.37:g.26107935C>T			Somatic				ATP10A_uc001zax.3_Non-coding_Transcript	p.V103V	NM_024490	NP_077816	WXS	Illumina GAIIx	Phase_I	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	0	415	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	103					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.309G>A	CCDS32178.1																																																																																				0.652	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		6	14	0	0	0	1	0	6	14					T	26107935	C	T	26107935	2	4	51	1	0	0	0	0	0	0	0	1	1116	813	29	2		2	ATP10A	15	26107935	Silent	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		26107935	76423457	21	987											
VAPA	9218	broad.mit.edu	37	18	9950521	9950521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:9950521C>T	ENST00000400000.2	+	5	802	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Nonsense_Mutation_p.Q228*	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	183					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						TAAAAGACTTCAGGGAGAAAT	0.378																																						uc002koj.3																			0				breast(1)|lung(2)|prostate(1)	4						c.(682-684)Cag>Tag		Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 1, mRNA.							94	82	86					18																	9950521		1853	4092	5945	SO:0001587	stop_gained	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9950521C>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.547C>T	18.37:g.9950521C>T	ENSP00000382880:p.Gln183*		Somatic				VAPA_uc002kok.3_Nonsense_Mutation_p.Q183*	p.Q228*	NM_003574	NP_003565	WXS	Illumina GAIIx	Phase_I	Q9P0L0	VAPA_HUMAN			5	981	+			183					A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Nonsense_Mutation	SNP	ENST00000400000.2	37	c.682C>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	38	6.886032	0.97912	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.0496	20.1272	0.97986	0.0:1.0:0.0:0.0	.	.	.	.	X	228;183	.	.	Q	+	1	0	VAPA	9940521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.499000	0.73683	2.828000	0.97474	0.655000	0.94253	CAG		0.378	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			47	41	0	0	0	1	0	47	41					T	9950521	C	T	9950521	4	4	51	1	0	0	0	0	0	1	0	0	17118	827	29	2	704	2	VAPA	18	9950521	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y2-01A-11D-A10S-08		9950521	68126727	22	988											
RPRD1A	55197	broad.mit.edu	37	18	33606928	33606928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr18:33606928G>A	ENST00000399022.4	-	6	895	c.724C>T	c.(724-726)Cga>Tga	p.R242*	RPRD1A_ENST00000588737.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000590898.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000357384.4_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000337059.5_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000319040.6_Nonsense_Mutation_p.R242*	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	242					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R242R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTAACATTCGAGTGAGTTGC	0.403																																						uc002kzg.3																			1	Substitution - coding silent(1)	p.R242R(2)	urinary_tract(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(724-726)Cga>Tga		Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.							81	78	79					18																	33606928		2203	4300	6503	SO:0001587	stop_gained	55197							g.chr18:33606928G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.724C>T	18.37:g.33606928G>A	ENSP00000381984:p.Arg242*		Somatic				RPRD1A_uc002kze.1_Nonsense_Mutation_p.R206*|RPRD1A_uc010dmw.3_Nonsense_Mutation_p.R206*|RPRD1A_uc010dmx.3_Nonsense_Mutation_p.R242*	p.R242*	NM_018170	NP_060640	WXS	Illumina GAIIx	Phase_I	Q96P16	RPR1A_HUMAN			5	730	-			242					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Nonsense_Mutation	SNP	ENST00000399022.4	37	c.724C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	37	6.297262	0.97453	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1272	16.6336	0.85040	0.0:0.0:1.0:0.0	.	.	.	.	X	242;242;206;242	.	ENSP00000314602:R242X	R	-	1	2	RPRD1A	31860926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.788000	0.85771	2.583000	0.87209	0.650000	0.86243	CGA		0.403	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		6	98	0	0	0	1	0	6	98					A	33606928	G	A	33606928	4	1	51	1	0	0	0	0	0	1	0	0	13615	1066	37	1	222	1	RPRD1A	18	33606928	Nonsense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	23656407	33606928	44470320	23	989											
DOCK6	57572	broad.mit.edu	37	19	11333436	11333436	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:11333436G>C	ENST00000294618.7	-	26	3226	c.3215C>G	c.(3214-3216)cCc>cGc	p.P1072R	DOCK6_ENST00000319867.7_Missense_Mutation_p.P411R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1072					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGACACAGAGGGGGAGGGCGA	0.612																																						uc002mqs.4																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3214-3216)cCc>cGc		Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.							24	32	29					19																	11333436		2157	4258	6415	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11333436G>C		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3215C>G	19.37:g.11333436G>C	ENSP00000294618:p.Pro1072Arg		Somatic				DOCK6_uc010xlq.2_Missense_Mutation_p.P411R	p.P1072R	NM_020812	NP_065863	WXS	Illumina GAIIx	Phase_I	Q96HP0	DOCK6_HUMAN			25	3256	-			1072					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.3215C>G	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356231	0.82243	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.25414	1.8;1.8	5.05	5.05	0.67936	.	0.064525	0.64402	D	0.000006	T	0.55561	0.1928	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.889	T	0.62618	-0.6816	10	0.72032	D	0.01	-30.5412	17.1588	0.86798	0.0:0.0:1.0:0.0	.	411;1072	C9IZV6;Q96HP0	.;DOCK6_HUMAN	R	1072;411	ENSP00000294618:P1072R;ENSP00000321556:P411R	ENSP00000294618:P1072R	P	-	2	0	DOCK6	11194436	1.000000	0.71417	0.971000	0.41717	0.808000	0.45660	9.173000	0.94815	2.347000	0.79759	0.491000	0.48974	CCC		0.612	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	3	0	0	0	1	0	3	3					C	11333436	G	C	11333436	3	2	51	1	0	0	0	0	1	0	0	0	4691	1232	43	4	3020	4	DOCK6	19	11333436	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08		11333436	47795547	24	990											
ZNF564	163050	broad.mit.edu	37	19	12637690	12637690	+	Missense_Mutation	SNP	T	T	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:12637690T>A	ENST00000339282.7	-	4	1428	c.1232A>T	c.(1231-1233)cAc>cTc	p.H411L	CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTTCTTTCGTGTATTTGAAA	0.408																																						uc002mty.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1231-1233)cAc>cTc		Homo sapiens zinc finger protein 564 (ZNF564), mRNA.							133	139	137					19																	12637690		2201	4300	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12637690T>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1232A>T	19.37:g.12637690T>A	ENSP00000340004:p.His411Leu		Somatic				ZNF709_uc002mtx.4_Intron	p.H411L	NM_144976	NP_659413	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			3	1442	-			466					B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1232A>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712696	0.89112	.	.	ENSG00000249709	ENST00000339282	D	0.86865	-2.18	1.96	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95143	0.8426	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94489	0.7700	9	0.87932	D	0	.	9.2196	0.37368	0.0:0.0:0.0:1.0	.	411	Q8TBZ8	ZN564_HUMAN	L	411	ENSP00000340004:H411L	ENSP00000340004:H411L	H	-	2	0	ZNF564	12498690	1.000000	0.71417	0.015000	0.15790	0.967000	0.64934	6.234000	0.72326	1.167000	0.42706	0.523000	0.50628	CAC		0.408	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		26	246	0	0	0	1	0	26	246					A	12637690	T	A	12637690	3	1	51	1	0	0	0	0	1	0	0	0	17992	1696	59	5	433	5	ZNF564	19	12637690	Missense_Mutation	SNP	T	TCGA-DE-A0Y2-01A-11D-A10S-08	1304254	12637690	46491293	25	991											
SPIB	6689	broad.mit.edu	37	19	50931366	50931366	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y2-01A-11D-A10S-08	TCGA-DE-A0Y2-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3423951-7bef-4dbe-be7c-c46c37ed2ffb	aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7	g.chr19:50931366G>A	ENST00000595883.1	+	6	587	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SPIB_ENST00000439922.2_Missense_Mutation_p.V97M|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000597855.1_3'UTR|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.R322H	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	188					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCGTGAGTGCGTGTGGTGGGT	0.682																																						uc002psd.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(562-564)Gtg>Atg		Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.							24	30	28					19																	50931366		2189	4284	6473	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50931366G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.562G>A	19.37:g.50931366G>A	ENSP00000471921:p.Val188Met		Somatic				SPIB_uc021uyc.1_Missense_Mutation_p.V157M|SPIB_uc002pse.3_3'UTR|SPIB_uc010ycc.2_Missense_Mutation_p.V97M	p.V188M	NM_003121	NP_003112	WXS	Illumina GAIIx	Phase_I	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	587	+		all_neural(266;0.131)	188					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.562G>A	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.970356	0.74246	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T	0.26810	1.71	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.153067	0.29624	N	0.011640	T	0.35038	0.0918	L	0.29908	0.895	0.38694	D	0.952836	D;D	0.89917	1.0;1.0	D;D	0.75484	0.969;0.986	T	0.22591	-1.0212	10	0.87932	D	0	-6.0279	9.4174	0.38530	0.1013:0.0:0.8986:0.0	.	97;188	B4DUG6;Q01892	.;SPIB_HUMAN	M	188;97	ENSP00000391877:V97M	ENSP00000270632:V188M	V	+	1	0	SPIB	55623178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.183000	0.42565	2.267000	0.75376	0.561000	0.74099	GTG		0.682	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		3	3	0	0	0	1	0	3	3					A	50931366	G	A	50931366	3	1	51	1	0	0	0	0	1	0	0	0	15049	1145	40	1	584	1	SPIB	19	50931366	Missense_Mutation	SNP	G	TCGA-DE-A0Y2-01A-11D-A10S-08	38293676	50931366	8197617	26	992											
TREX1	11277	broad.mit.edu	37	3	48508560	48508560	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr3:48508560C>G	ENST00000422277.2	+	1	1332	c.671C>G	c.(670-672)tCa>tGa	p.S224*	TREX1_ENST00000296443.9_Nonsense_Mutation_p.S169*|TREX1_ENST00000433541.1_Nonsense_Mutation_p.S30*|TREX1_ENST00000436480.2_Nonsense_Mutation_p.S169*|TREX1_ENST00000456089.1_Nonsense_Mutation_p.S30*|TREX1_ENST00000444177.1_Nonsense_Mutation_p.S159*|TREX1_ENST00000492235.1_3'UTR|SHISA5_ENST00000465449.1_5'Flank	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	224					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGCAGCCCCTCAGAACACGGC	0.612																																						uc003ctj.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(670-672)tCa>tGa		Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.							64	67	66					3																	48508560		2203	4300	6503	SO:0001587	stop_gained	11277				DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508560C>G	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.671C>G	3.37:g.48508560C>G	ENSP00000390478:p.Ser224*		Somatic				TREX1_uc010hjy.3_Nonsense_Mutation_p.S169*|TREX1_uc010hjz.3_Nonsense_Mutation_p.S169*|TREX1_uc003ctk.3_Nonsense_Mutation_p.S30*|TREX1_uc010hka.3_Nonsense_Mutation_p.S224*	p.S224*	NM_033629	NP_338599	WXS	Illumina GAIIx	Phase_I	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	1928	+			224					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Nonsense_Mutation	SNP	ENST00000422277.2	37	c.671C>G	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717540	0.30413	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	.	.	.	4.99	2.02	0.26589	.	1.225480	0.06309	U	0.702278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.2831	0.10841	0.1464:0.4812:0.2856:0.0868	.	.	.	.	X	169;30;169;224;159;30	.	ENSP00000296443:S169X	S	+	2	0	TREX1	48483564	0.000000	0.05858	0.358000	0.25811	0.013000	0.08279	0.163000	0.16520	1.076000	0.40961	-0.165000	0.13383	TCA		0.612	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		3	99	0	0	0	1	0	3	99					G	48508560	C	G	48508560	4	3	52	1	0	0	0	0	0	1	0	0	16473	838	29	4	673	4	TREX1	3	48508560	Nonsense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		48508560	149513870	1	993											
SLC6A18	348932	broad.mit.edu	37	5	1232375	1232375	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1232375G>A	ENST00000324642.3	+	2	325	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G68R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	68					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTCTTCGAGGGGATCCCCAT	0.687																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(202-204)Ggg>Agg		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							46	46	46					5																	1232375		2202	4300	6502	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232375G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.202G>A	5.37:g.1232375G>A	ENSP00000323549:p.Gly68Arg		Somatic					p.G68R	NM_182632	NP_872438	WXS	Illumina GAIIx	Phase_I	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	325	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		68						Missense_Mutation	SNP	ENST00000324642.3	37	c.202G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969206	0.74246	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	D;D	0.87729	-2.29;-2.29	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97235	0.9887	10	0.87932	D	0	.	17.0443	0.86498	0.0:0.0:1.0:0.0	.	68	Q96N87	S6A18_HUMAN	R	68	ENSP00000323549:G68R;ENSP00000296821:G68R	ENSP00000296821:G68R	G	+	1	0	SLC6A18	1285375	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	8.757000	0.91657	2.560000	0.86352	0.491000	0.48974	GGG		0.687	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		20	16	0	0	0	1	0	20	16					A	1232375	G	A	1232375	3	1	52	1	0	0	0	0	1	0	0	0	14681	1232	43	2	208	2	SLC6A18	5	1232375	Missense_Mutation	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		1232375	179682885	2	994											
SLC6A3	6531	broad.mit.edu	37	5	1443103	1443103	+	Silent	SNP	G	G	C			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1443103G>C	ENST00000270349.9	-	2	337	c.210C>G	c.(208-210)ctC>ctG	p.L70L	SLC6A3_ENST00000453492.2_Silent_p.L70L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	70					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGACGGACAGGAGAAAGTCGA	0.612																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(208-210)ctC>ctG		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						110	97	101					5																	1443103		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1443103G>C		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.210C>G	5.37:g.1443103G>C			Somatic					p.L70L	NM_001044	NP_001035	WXS	Illumina GAIIx	Phase_I	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		1	336	-			70					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.210C>G	CCDS3863.1																																																																																				0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		4	121	0	0	0	1	0	4	121					C	1443103	G	C	1443103	2	2	52	1	0	0	0	0	0	0	0	1	14685	1161	41	4		4	SLC6A3	5	1443103	Silent	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08	210728	1443103	179472157	3	995											
DNAJC21	134218	broad.mit.edu	37	5	34954066	34954066	+	Missense_Mutation	SNP	T	T	C	rs200823175		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:34954066T>C	ENST00000342382.4	+	11	1621	c.1394T>C	c.(1393-1395)aTg>aCg	p.M465T	DNAJC21_ENST00000382021.2_Missense_Mutation_p.M510T|DNAJC21_ENST00000303525.7_Missense_Mutation_p.M478T			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	465					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACCAAAGATATGAAAAAACCT	0.318													C|||	1	0.000199681	0	0.0014	5008	,	,		17048	0		0	False		,,,				2504	0					uc003jjb.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1528-1530)aTg>aCg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.							101	109	106					5																	34954066		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954066T>C		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1394T>C	5.37:g.34954066T>C	ENSP00000343728:p.Met465Thr		Somatic				DNAJC21_uc003jjc.3_Missense_Mutation_p.M465T|DNAJC21_uc010iuu.1_Missense_Mutation_p.M362T	p.M510T	NM_194283	NP_919259	WXS	Illumina GAIIx	Phase_I	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		11	1756	+	all_lung(31;7.08e-05)		465					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1529T>C	CCDS34144.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.279	-0.987382	0.02180	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.39787	1.08;1.07;1.06	5.81	-11.6	0.00059	.	2.389020	0.00921	N	0.002592	T	0.23094	0.0558	N	0.14661	0.345	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	0.14254	-1.0479	10	0.13108	T	0.6	4.5532	15.4284	0.75072	0.0:0.6399:0.0744:0.2856	.	478;465;510	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	T	465;510;478	ENSP00000343728:M465T;ENSP00000371451:M510T;ENSP00000306289:M478T	ENSP00000306289:M478T	M	+	2	0	DNAJC21	34989823	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-3.046000	0.00630	-2.414000	0.00569	-2.332000	0.00249	ATG		0.318	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		4	127	0	0	0	1	0	4	127					C	34954066	T	C	34954066	3	2	52	1	0	0	0	0	1	0	0	0	4640	1464	51	3	1575	3	DNAJC21	5	34954066	Missense_Mutation	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08	33510963	34954066	145961194	4	996											
PCSK1	5122	broad.mit.edu	37	5	95748058	95748058	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:95748058C>T	ENST00000311106.3	-	7	1083	c.846G>A	c.(844-846)cgG>cgA	p.R282R	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.R235R	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	282	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCTGGGCTAGCCGGCCAGGCC	0.478																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(844-846)cgG>cgA		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101	104	103					5																	95748058		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95748058C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.846G>A	5.37:g.95748058C>T			Somatic				PCSK1_uc010jbi.2_Silent_p.R43R|PCSK1_uc021ybq.1_Silent_p.R235R	p.R282R	NM_000439	NP_000430	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	6	1085	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	282			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.846G>A	CCDS4081.1																																																																																				0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	127	0	0	0	1	0	4	127					T	95748058	C	T	95748058	2	4	52	1	0	0	0	0	0	0	0	1	11600	726	26	2		2	PCSK1	5	95748058	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	60793992	95748058	85167202	5	997											
FNIP1	96459	broad.mit.edu	37	5	131008166	131008166	+	Silent	SNP	T	T	C			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:131008166T>C	ENST00000510461.1	-	14	2066	c.1971A>G	c.(1969-1971)gaA>gaG	p.E657E	FNIP1_ENST00000307954.8_Silent_p.E612E|FNIP1_ENST00000307968.7_Silent_p.E629E|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	657					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAGCATTTTCTTCTTGGCAGT	0.393																																						uc003kvs.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1969-1971)gaA>gaG		Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.							125	128	127					5																	131008166		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	g.chr5:131008166T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1971A>G	5.37:g.131008166T>C			Somatic				RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E629E|RAPGEF6_uc010jdm.1_Silent_p.E612E	p.E657E	NM_133372	NP_588613	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	13	2113	-			0					D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.1971A>G	CCDS34227.1																																																																																				0.393	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		11	323	0	0	0	1	0	11	323					C	131008166	T	C	131008166	2	2	52	1	0	0	0	0	0	0	0	1	5975	1606	56	3		3	FNIP1	5	131008166	Silent	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08	35260108	131008166	49907094	6	998											
MATR3	9782	broad.mit.edu	37	5	138643134	138643134	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:138643134C>T	ENST00000394805.3	+	2	365	c.30C>T	c.(28-30)ctC>ctT	p.L10L	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394800.2_Silent_p.L10L|MATR3_ENST00000510056.1_Silent_p.L10L|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Silent_p.L10L|MATR3_ENST00000502929.1_Silent_p.L10L|MATR3_ENST00000509990.1_Silent_p.L10L	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	10					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTCATCTCTCAGTAGGGACT	0.428																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(28-30)ctC>ctT		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							106	105	105					5																	138643134		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding	g.chr5:138643134C>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.30C>T	5.37:g.138643134C>T			Somatic				MATR3_uc003lds.3_Silent_p.L10L|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.L10L|MATR3_uc010jfb.3_Silent_p.L10L|MATR3_uc003ldx.3_Silent_p.L10L|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.L10L|MATR3_uc011czb.2_Intron	p.L10L	NM_018834	NP_954659	WXS	Illumina GAIIx	Phase_I	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	433	+			10					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.30C>T	CCDS4210.1																																																																																				0.428	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		8	193	0	0	0	1	0	8	193					T	138643134	C	T	138643134	2	4	52	1	0	0	0	0	0	0	0	1	9337	813	29	2		2	MATR3	5	138643134	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	7634968	138643134	42272126	7	999											
GRB10	2887	broad.mit.edu	37	7	50674044	50674044	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:50674044G>A	ENST00000401949.1	-	14	1731	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GRB10_ENST00000439599.1_Missense_Mutation_p.S415L|GRB10_ENST00000402578.1_Missense_Mutation_p.S363L|GRB10_ENST00000407526.1_Missense_Mutation_p.S363L|GRB10_ENST00000335866.3_Missense_Mutation_p.S363L|GRB10_ENST00000403097.1_Missense_Mutation_p.S415L|GRB10_ENST00000402497.1_Missense_Mutation_p.S363L|GRB10_ENST00000398812.2_Missense_Mutation_p.S421L|GRB10_ENST00000357271.5_Missense_Mutation_p.S375L|GRB10_ENST00000398810.2_Missense_Mutation_p.S363L|GRB10_ENST00000406641.1_Missense_Mutation_p.S363L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	421					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACTGGCGTCGAGAACGGGGA	0.527									Russell-Silver syndrome																													uc003tpi.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1261-1263)tCg>tTg		Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.							107	111	110					7																	50674044		1974	4147	6121	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding	g.chr7:50674044G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1262C>T	7.37:g.50674044G>A	ENSP00000385770:p.Ser421Leu		Somatic				GRB10_uc003tph.3_Missense_Mutation_p.S363L|GRB10_uc003tpj.2_Missense_Mutation_p.S375L|GRB10_uc003tpk.2_Missense_Mutation_p.S421L|GRB10_uc010kzb.2_Missense_Mutation_p.S363L|GRB10_uc003tpl.2_Missense_Mutation_p.S415L|GRB10_uc003tpm.2_Missense_Mutation_p.S363L	p.S421L	NM_005311	NP_005302	WXS	Illumina GAIIx	Phase_I	Q13322	GRB10_HUMAN			10	1308	-	Glioma(55;0.08)|all_neural(89;0.245)		421					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1262C>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302882	0.23736	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83506	-1.6;-1.6;-1.73;-1.73;-1.73;-1.6;-1.73;-1.54;-1.73;-1.6;-1.73	5.34	2.4	0.29515	.	0.342170	0.31772	N	0.007087	T	0.79405	0.4440	M	0.71581	2.175	0.53005	D	0.999961	B;B;B	0.17268	0.012;0.021;0.003	B;B;B	0.15870	0.008;0.014;0.004	T	0.71388	-0.4608	10	0.46703	T	0.11	-0.8056	8.8516	0.35203	0.0709:0.0:0.6544:0.2747	.	415;375;421	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	L	421;415;363;363;363;415;363;375;363;421;363	ENSP00000381793:S421L;ENSP00000406716:S415L;ENSP00000338543:S363L;ENSP00000381790:S363L;ENSP00000385189:S363L;ENSP00000385544:S415L;ENSP00000385366:S363L;ENSP00000349818:S375L;ENSP00000385046:S363L;ENSP00000385770:S421L;ENSP00000385748:S363L	ENSP00000338543:S363L	S	-	2	0	GRB10	50641538	1.000000	0.71417	0.003000	0.11579	0.051000	0.14879	5.293000	0.65680	0.167000	0.19631	-0.136000	0.14681	TCG		0.527	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			10	209	0	0	0	1	0	10	209					A	50674044	G	A	50674044	3	1	52	1	0	0	0	0	1	0	0	0	6756	1059	37	1	546	1	GRB10	7	50674044	Missense_Mutation	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		50674044	108464619	8	1000											
MAGI2	9863	broad.mit.edu	37	7	77973161	77973161	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:77973161C>T	ENST00000354212.4	-	9	1595	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E448K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E280K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E285K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E448K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	448	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCAGAAACTCATCAGGCTCG	0.473																																						uc003ugx.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1342-1344)Gag>Aag		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.							121	107	112					7																	77973161		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973161C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1342G>A	7.37:g.77973161C>T	ENSP00000346151:p.Glu448Lys		Somatic				MAGI2_uc003ugy.3_Missense_Mutation_p.E448K|MAGI2_uc010ldx.1_Missense_Mutation_p.E57K|MAGI2_uc010ldy.1_Missense_Mutation_p.E57K|MAGI2_uc011kgr.1_Missense_Mutation_p.E280K|MAGI2_uc011kgs.1_Missense_Mutation_p.E285K	p.E448K	NM_012301	NP_036433	WXS	Illumina GAIIx	Phase_I	Q86UL8	MAGI2_HUMAN			8	1596	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	448			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1342G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513023	0.96402	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.81	5.81	0.92471	PDZ/DHR/GLGF (4);	0.000000	0.36854	U	0.002372	T	0.46658	0.1404	L	0.43554	1.36	0.80722	D	1	P;P;D;D;P;D	0.76494	0.911;0.687;0.999;0.999;0.911;0.997	P;B;D;D;P;D	0.87578	0.848;0.379;0.998;0.998;0.848;0.996	T	0.33954	-0.9848	10	0.87932	D	0	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	285;280;448;448;448;448	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	K	448;448;448;448;280;285	ENSP00000405766:E448K;ENSP00000346151:E448K;ENSP00000428389:E448K;ENSP00000441584:E280K;ENSP00000441603:E285K	ENSP00000346151:E448K	E	-	1	0	MAGI2	77811097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	GAG		0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		43	55	0	0	0	1	0	43	55					T	77973161	C	T	77973161	3	4	52	1	0	0	0	0	1	0	0	0	9191	835	29	2	3081	2	MAGI2	7	77973161	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	27299117	77973161	81165502	9	1001											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		58	77	0	0	0	1	0	58	77					T	140453136	A	T	140453136	3	4	52	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DE-A0Y3-01B-11D-A10S-08	62479975	140453136	18685527	10	1002											
DMRT3	58524	broad.mit.edu	37	9	990617	990617	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr9:990617C>T	ENST00000190165.2	+	2	1069	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	344					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGTTTTCTGCCGACTCTAGC	0.582																																						uc003zgw.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1030-1032)gCc>gTc		Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.							103	96	99					9																	990617		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990617C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1031C>T	9.37:g.990617C>T	ENSP00000190165:p.Ala344Val		Somatic					p.A344V	NM_021240	NP_067063	WXS	Illumina GAIIx	Phase_I	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	1069	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	344					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1031C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787200	0.49997	.	.	ENSG00000064218	ENST00000190165	T	0.25414	1.8	4.95	4.95	0.65309	.	0.743799	0.12602	N	0.454575	T	0.21590	0.0520	N	0.24115	0.695	0.28217	N	0.926708	B	0.24258	0.1	B	0.21708	0.036	T	0.10064	-1.0646	10	0.28530	T	0.3	-24.3838	18.2198	0.89898	0.0:1.0:0.0:0.0	.	344	Q9NQL9	DMRT3_HUMAN	V	344	ENSP00000190165:A344V	ENSP00000190165:A344V	A	+	2	0	DMRT3	980617	0.779000	0.28652	0.035000	0.18076	0.853000	0.48598	5.390000	0.66261	2.308000	0.77769	0.561000	0.74099	GCC		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		4	158	0	0	0	1	0	4	158					T	990617	C	T	990617	3	4	52	1	0	0	0	0	1	0	0	0	4587	739	26	2	1037	2	DMRT3	9	990617	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		990617	140222814	11	1003											
PLCE1	51196	broad.mit.edu	37	10	96066243	96066243	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr10:96066243C>T	ENST00000371380.3	+	25	5917	c.5682C>T	c.(5680-5682)gtC>gtT	p.V1894V	PLCE1_ENST00000371375.1_Silent_p.V1586V|PLCE1_ENST00000260766.3_Silent_p.V1894V|PLCE1_ENST00000371385.3_Silent_p.V1586V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1894	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)				GCATTGAAGTCGACGTCCTGG	0.537																																						uc001kjk.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5680-5682)gtC>gtT		Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.							138	138	138					10																	96066243		2025	4177	6202	SO:0001819	synonymous_variant	51196				Ras protein signal transduction|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|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	g.chr10:96066243C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5682C>T	10.37:g.96066243C>T			Somatic				PLCE1_uc010qnx.2_Silent_p.V1878V|PLCE1_uc001kjm.3_Silent_p.V1586V|PLCE1_uc001kjp.3_Silent_p.V252V	p.V1894V	NM_016341	NP_057425	WXS	Illumina GAIIx	Phase_I	Q9P212	PLCE1_HUMAN			25	6316	+		Colorectal(252;0.0458)	1894			C2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.5682C>T	CCDS41552.1																																																																																				0.537	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		29	183	0	0	0	1	0	29	183					T	96066243	C	T	96066243	2	4	52	1	0	0	0	0	0	0	0	1	12034	871	31	1		1	PLCE1	10	96066243	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		96066243	39468504	12	1004											
PIK3C2G	5288	broad.mit.edu	37	12	18499700	18499700	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr12:18499700C>T	ENST00000266497.5	+	10	1593	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.P519S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	519	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTATCTAAATCCCGGGCTTCC	0.448																																						uc010sib.2																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1555-1557)Ccc>Tcc		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							116	112	113					12																	18499700		1944	4136	6080	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18499700C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1555C>T	12.37:g.18499700C>T	ENSP00000266497:p.Pro519Ser		Somatic				PIK3C2G_uc001rdt.3_Missense_Mutation_p.P519S|PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sic.2_Missense_Mutation_p.P297S	p.P519S	NM_004570	NP_004561	WXS	Illumina GAIIx	Phase_I	O75747	P3C2G_HUMAN			9	1633	+		Hepatocellular(102;0.194)	519					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1555C>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534708	0.04082	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.75477	1.68;-0.94;-0.94;0.3	4.25	3.33	0.38152	Phosphoinositide 3-kinase, C2 (2);	3.722390	0.00424	N	0.000076	T	0.61060	0.2317	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.138;0.216;0.257	B;B;B	0.34452	0.053;0.115;0.183	T	0.54886	-0.8226	10	0.06099	T	0.92	-2.5521	7.0377	0.25002	0.2055:0.6088:0.1857:0.0	.	518;519;519	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	S	519	ENSP00000443850:P519S;ENSP00000404845:P519S;ENSP00000266497:P519S;ENSP00000445381:P519S	ENSP00000266497:P519S	P	+	1	0	PIK3C2G	18390967	0.002000	0.14202	0.016000	0.15963	0.023000	0.10783	0.551000	0.23361	1.339000	0.45563	0.555000	0.69702	CCC		0.448	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		41	57	0	0	0	1	0	41	57					T	18499700	C	T	18499700	3	4	52	1	0	0	0	0	1	0	0	0	11911	855	30	2	1593	2	PIK3C2G	12	18499700	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		18499700	115352195	13	1005											
ADAM21	8747	broad.mit.edu	37	14	70924858	70924858	+	Silent	SNP	T	T	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:70924858T>A	ENST00000603540.1	+	2	900	c.642T>A	c.(640-642)gtT>gtA	p.V214V	ADAM21_ENST00000267499.3_Silent_p.V214V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	214	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.|Poly-Val.				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)		AGCTAGTTGTTGTGGTGAACC	0.433																																						uc001xmd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(640-642)gtT>gtA		Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.							59	63	62					14																	70924858		2202	4296	6498	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924858T>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.642T>A	14.37:g.70924858T>A			Somatic				ADAM21_uc021rvq.1_Silent_p.V214V	p.V214V	NM_003813	NP_003804	WXS	Illumina GAIIx	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	900	+			214			Peptidase M12B.|Poly-Val.		O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.642T>A	CCDS9804.1																																																																																				0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			71	79	0	0	0	1	0	71	79					A	70924858	T	A	70924858	2	1	52	1	0	0	0	0	0	0	0	1	243	1799	63	5		5	ADAM21	14	70924858	Silent	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08		70924858	36424682	14	1006											
BATF	10538	broad.mit.edu	37	14	76012817	76012817	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:76012817C>T	ENST00000286639.6	+	3	439	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	61	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GAGCGAAGACCTGGAGAAACA	0.597																																						uc001xrr.3																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(181-183)Ctg>Ttg		Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.							63	52	56					14																	76012817		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012817C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.181C>T	14.37:g.76012817C>T			Somatic					p.L61L	NM_006399	NP_006390	WXS	Illumina GAIIx	Phase_I	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	2	423	+			61			Leucine-zipper.			Silent	SNP	ENST00000286639.6	37	c.181C>T	CCDS9843.1																																																																																				0.597	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		7	65	0	0	0	1	0	7	65					T	76012817	C	T	76012817	2	4	52	1	0	0	0	0	0	0	0	1	1325	680	24	2		2	BATF	14	76012817	Silent	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	5087959	76012817	31336723	15	1007											
SLC46A1	113235	broad.mit.edu	37	17	26733056	26733056	+	Missense_Mutation	SNP	T	T	G			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:26733056T>G	ENST00000440501.1	-	1	172	c.77A>C	c.(76-78)gAg>gCg	p.E26A	SLC46A1_ENST00000321666.5_Missense_Mutation_p.E26A|CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	26					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GACCAGCGGCTCTACCGGGCC	0.716																																						uc002hbf.2																			0				lung(5)	5						c.(76-78)gAg>gCg		Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	Folic Acid(DB00158)						9	11	10					17																	26733056		1891	4068	5959	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26733056T>G	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.77A>C	17.37:g.26733056T>G	ENSP00000395653:p.Glu26Ala		Somatic				SLC46A1_uc021ttr.1_Missense_Mutation_p.E26A|SLC46A1_uc010wak.2_Missense_Mutation_p.E26A	p.E26A	NM_080669	NP_542400	WXS	Illumina GAIIx	Phase_I	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	0	175	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		26					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.77A>C		.	.	.	.	.	.	.	.	.	.	t	27.5	4.834627	0.91036	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.58060	0.54;0.36	4.62	3.54	0.40534	.	0.052253	0.85682	D	0.000000	T	0.67979	0.2951	.	.	.	0.80722	D	1	D;P;P	0.67145	0.996;0.901;0.841	D;P;B	0.68943	0.961;0.634;0.283	T	0.69057	-0.5246	9	0.56958	D	0.05	-12.3525	10.3403	0.43873	0.0:0.0782:0.0:0.9218	.	26;26;26	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	A	26	ENSP00000395653:E26A;ENSP00000318828:E26A	ENSP00000318828:E26A	E	-	2	0	SLC46A1	23757183	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.947000	0.63583	0.905000	0.36596	0.456000	0.33151	GAG		0.716	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		6	9	0	0	0	1	0	6	9					G	26733056	T	G	26733056	3	3	52	1	0	0	0	0	1	0	0	0	14644	1551	54	5	1323	5	SLC46A1	17	26733056	Missense_Mutation	SNP	T	TCGA-DE-A0Y3-01B-11D-A10S-08		26733056	54462154	16	1008											
CCL23	6368	broad.mit.edu	37	17	34340319	34340319	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:34340319C>T	ENST00000591423.1	-	4	345	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	RP11-104J23.2_ENST00000590149.1_lincRNA|RP11-104J23.1_ENST00000588294.1_RNA|CCL23_ENST00000293280.2_Missense_Mutation_p.C111Y|RP11-104J23.1_ENST00000590192.1_RNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	94					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTTGGCACAGAAACGTCG	0.522																																						uc002hks.1																			0				large_intestine(2)|liver(1)|lung(2)|prostate(1)	6						c.(331-333)tGt>tAt		Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8-1, mRNA.	Treprostinil(DB00374)						82	66	72					17																	34340319		2203	4300	6503	SO:0001583	missense	6368				G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34340319C>T	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"Chemokine ligands", "Endogenous ligands"	10622	protein-coding gene	gene with protein product		602494	"small inducible cytokine subfamily A (Cys-Cys), member 23"	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.281G>A	17.37:g.34340319C>T	ENSP00000465954:p.Cys94Tyr		Somatic				CCL23_uc002hkt.1_Missense_Mutation_p.C94Y	p.C111Y	NM_005064	NP_005055	WXS	Illumina GAIIx	Phase_I	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	403	-		Ovarian(249;0.17)	94					B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	c.332G>A	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897014	0.52121	.	.	ENSG00000167236	ENST00000293280	D	0.92858	-3.12	3.71	3.71	0.42584	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.64402	D	0.000001	D	0.97164	0.9073	H	0.97340	3.985	0.40082	D	0.976149	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97718	1.0195	10	0.87932	D	0	.	11.1709	0.48571	0.0:1.0:0.0:0.0	.	94;111	P55773;P55773-2	CCL23_HUMAN;.	Y	111	ENSP00000293280:C111Y	ENSP00000293280:C111Y	C	-	2	0	CCL23	31364432	1.000000	0.71417	0.630000	0.29268	0.008000	0.06430	3.469000	0.53093	2.062000	0.61559	0.511000	0.50034	TGT		0.522	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		20	24	0	0	0	1	0	20	24					T	34340319	C	T	34340319	3	4	52	1	0	0	0	0	1	0	0	0	2895	478	17	2	85	2	CCL23	17	34340319	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08	7607263	34340319	46854891	17	1009											
GLTSCR2	29997	broad.mit.edu	37	19	48254336	48254336	+	Silent	SNP	G	G	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:48254336G>A	ENST00000246802.5	+	4	608	c.570G>A	c.(568-570)cgG>cgA	p.R190R	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	190				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGTAGAGCGGCCCTTCTACG	0.647																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(568-570)cgG>cgA		Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.							19	17	17					19																	48254336		2202	4300	6502	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48254336G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.570G>A	19.37:g.48254336G>A			Somatic				GLTSCR2_uc010elk.1_5'Flank	p.R190R	NM_015710	NP_056525	WXS	Illumina GAIIx	Phase_I	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	3	594	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	190	RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.570G>A	CCDS12705.1																																																																																				0.647	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		11	16	0	0	0	1	0	11	16					A	48254336	G	A	48254336	2	1	52	1	0	0	0	0	0	0	0	1	6475	1190	42	2		2	GLTSCR2	19	48254336	Silent	SNP	G	TCGA-DE-A0Y3-01B-11D-A10S-08		48254336	10874647	18	1010											
ZSCAN5A	79149	broad.mit.edu	37	19	56736373	56736373	+	Missense_Mutation	SNP	A	A	T	rs201140936		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:56736373A>T	ENST00000587340.1	-	4	738	c.43T>A	c.(43-45)Tgc>Agc	p.C15S	ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.C15S|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.C15S			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	15					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)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTCTGTTGCAGGATTCTCCT	0.468																																						uc002qmr.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(43-45)Tgc>Agc		Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.							60	62	61					19																	56736373		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56736373A>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.43T>A	19.37:g.56736373A>T	ENSP00000467631:p.Cys15Ser		Somatic				ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmq.3_Missense_Mutation_p.C15S|ZSCAN5A_uc002qms.1_Missense_Mutation_p.C15S	p.C15S	NM_024303	NP_077279	WXS	Illumina GAIIx	Phase_I	Q9BUG6	ZSA5A_HUMAN			3	739	-			15					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.43T>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	2.930	-0.221266	0.06061	.	.	ENSG00000131848	ENST00000391713	T	0.07444	3.19	2.08	-0.391	0.12446	.	.	.	.	.	T	0.05960	0.0155	L	0.59436	1.845	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.33777	-0.9855	9	0.22109	T	0.4	.	2.1329	0.03754	0.3942:0.3343:0.2715:0.0	.	15	Q9BUG6	ZSA5A_HUMAN	S	15	ENSP00000375593:C15S	ENSP00000375593:C15S	C	-	1	0	ZSCAN5A	61428185	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.081000	0.11321	-0.084000	0.12595	0.529000	0.55759	TGC		0.468	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		8	99	0	0	0	1	0	8	99					T	56736373	A	T	56736373	3	4	52	1	0	0	0	0	1	0	0	0	18235	188	7	5	1463	5	ZSCAN5A	19	56736373	Missense_Mutation	SNP	A	TCGA-DE-A0Y3-01B-11D-A10S-08	8482037	56736373	2392610	19	1011											
PDK3	5165	broad.mit.edu	37	X	24483609	24483609	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chrX:24483609C>T	ENST00000379162.4	+	1	272	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	PDK3_ENST00000441463.2_Missense_Mutation_p.P13S	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	13					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGCCGGTGCCCAAGCAGAT	0.687																																						uc004dbh.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(37-39)Ccc>Tcc		Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							14	16	15					X																	24483609		2195	4286	6481	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24483609C>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.37C>T	X.37:g.24483609C>T	ENSP00000368460:p.Pro13Ser		Somatic				PDK3_uc004dbg.3_Missense_Mutation_p.P13S	p.P13S	NM_001142386	NP_001135858	WXS	Illumina GAIIx	Phase_I	Q15120	PDK3_HUMAN			0	266	+			13					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.37C>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035932	0.54896	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.40225	1.04;1.58	4.2	4.2	0.49525	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.318671	0.33161	N	0.005210	T	0.29945	0.0749	L	0.31065	0.9	0.46823	D	0.999213	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09314	-1.0680	10	0.10111	T	0.7	.	15.7857	0.78300	0.0:1.0:0.0:0.0	.	13;13	B4DXG6;Q15120	.;PDK3_HUMAN	S	13	ENSP00000368460:P13S;ENSP00000387536:P13S	ENSP00000368460:P13S	P	+	1	0	PDK3	24393530	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.329000	0.65892	2.077000	0.62373	0.292000	0.19580	CCC		0.687	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		8	16	0	0	0	1	0	8	16					T	24483609	C	T	24483609	3	4	52	1	0	0	0	0	1	0	0	0	11677	739	26	2	39	2	PDK3	23	24483609	Missense_Mutation	SNP	C	TCGA-DE-A0Y3-01B-11D-A10S-08		24483609	130786951	20	1012											
PDPN	10630	broad.mit.edu	37	1	13942398	13942398	+	Splice_Site	SNP	A	A	G			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr1:13942398A>G	ENST00000509009.1	+	6	511		c.e6-1		PDPN_ENST00000376057.4_Splice_Site|PDPN_ENST00000376061.4_Splice_Site|PDPN_ENST00000294489.6_Splice_Site|PDPN_ENST00000513143.1_Splice_Site|PDPN_ENST00000487038.1_Splice_Site|PDPN_ENST00000475043.1_Splice_Site					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTATTTTCACAGGCCCTAAAG	0.478																																						uc001avd.3																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.e6-2		Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.							158	134	142					1																	13942398		2203	4300	6503	SO:0001630	splice_region_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13942398A>G	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.468-1A>G	1.37:g.13942398A>G			Somatic				PDPN_uc001avc.3_Splice_Site_p.R235_splice|PDPN_uc009vob.3_Splice_Site_p.S119_splice|PDPN_uc009voc.3_Splice_Site_p.S119_splice|PDPN_uc001ave.3_Splice_Site_p.R117_splice|PDPN_uc001avf.3_Splice_Site_p.S119_splice	p.S237_splice	NM_006474	NP_001006625	WXS	Illumina GAIIx	Phase_I	Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	6	760	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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)	161						Splice_Site	SNP	ENST00000509009.1	37	c.711_splice		.	.	.	.	.	.	.	.	.	.	A	12.39	1.922725	0.33908	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9836	0.47510	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDPN	13814985	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	4.428000	0.59894	2.087000	0.62958	0.533000	0.62120	.		0.478	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474	Intron	3	83	0	0	0	1	0	3	83					G	13942398	A	G	13942398	5	3	53	1	0	0	0	0	0	0	1	0	11688	202	7	3	731	3	PDPN	1	13942398	Splice_Site	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08		13942398	235308223	1	1013											
THPO	7066	broad.mit.edu	37	3	184090683	184090683	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr3:184090683G>C	ENST00000204615.7	-	6	894	c.680C>G	c.(679-681)gCc>gGc	p.A227G	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.S188R|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.A223G	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	227					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGAATCTTGGCTCTGAATCC	0.527																																						uc003fol.1																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(679-681)gCc>gGc		Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.							62	59	60					3																	184090683		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090683G>C		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.680C>G	3.37:g.184090683G>C	ENSP00000204615:p.Ala227Gly		Somatic				THPO_uc003fom.2_Missense_Mutation_p.A223G|THPO_uc021xii.1_Missense_Mutation_p.S221R|THPO_uc003fon.3_Missense_Mutation_p.S188R|THPO_uc011bro.2_Missense_Mutation_p.S184R|THPO_uc003fop.3_Missense_Mutation_p.S184R|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript	p.A227G	NM_000460	NP_000451	WXS	Illumina GAIIx	Phase_I	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	895	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		227					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.680C>G	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.26|12.26	1.884739|1.884739	0.33255|0.33255	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.35421|0.37915	1.31;1.32|1.17	4.18|4.18	2.29|2.29	0.28610|0.28610	Four-helical cytokine, core (1);|.	0.474650|.	0.17772|.	N|.	0.162553|.	T|T	0.25419|0.25419	0.0618|0.0618	L|L	0.29908|0.29908	0.895|0.895	0.22926|0.22926	N|N	0.998557|0.998557	P;P|B	0.40731|0.14012	0.728;0.608|0.009	B;B|B	0.38616|0.12156	0.277;0.143|0.007	T|T	0.21280|0.21280	-1.0250|-1.0250	10|9	0.72032|0.62326	D|D	0.01|0.03	-8.2907|-8.2907	7.0482|7.0482	0.25059|0.25059	0.2228:0.0:0.7772:0.0|0.2228:0.0:0.7772:0.0	.|.	223;227|188	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	G|R	227;223;188|188	ENSP00000204615:A227G;ENSP00000410763:A223G|ENSP00000411704:S188R	ENSP00000204615:A227G|ENSP00000411704:S188R	A|S	-|-	2|3	0|2	THPO|THPO	185573377|185573377	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.791000|0.791000	0.44710|0.44710	1.387000|1.387000	0.34430|0.34430	0.943000|0.943000	0.37553|0.37553	0.461000|0.461000	0.40582|0.40582	GCC|AGC		0.527	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		4	50	0	0	0	1	0	4	50					C	184090683	G	C	184090683	3	2	53	1	0	0	0	0	1	0	0	0	15869	1203	42	4	385	4	THPO	3	184090683	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		184090683	13931747	2	1014											
STK32B	55351	broad.mit.edu	37	4	5468544	5468544	+	Missense_Mutation	SNP	A	A	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr4:5468544A>C	ENST00000282908.5	+	10	1446	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.K265Q|STK32B_ENST00000510398.1_Missense_Mutation_p.K295Q	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGATGGCACAAAGGACAGCTG	0.502																																						uc003gih.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(1024-1026)Aag>Cag		Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.							81	78	79					4																	5468544		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5468544A>C	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1024A>C	4.37:g.5468544A>C	ENSP00000282908:p.Lys342Gln		Somatic				STK32B_uc010ida.1_Missense_Mutation_p.K295Q	p.K342Q	NM_018401	NP_060871	WXS	Illumina GAIIx	Phase_I	Q9NY57	ST32B_HUMAN			9	1088	+			342		K -> T (in dbSNP:rs55961955).				Missense_Mutation	SNP	ENST00000282908.5	37	c.1024A>C	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852903	0.32699	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.68479	-0.26;0.05;-0.33	4.95	4.95	0.65309	.	0.000000	0.43416	U	0.000567	T	0.77928	0.4204	M	0.73962	2.25	0.50313	D	0.999866	D	0.62365	0.991	D	0.64321	0.924	T	0.76080	-0.3090	10	0.23891	T	0.37	.	13.4591	0.61217	1.0:0.0:0.0:0.0	.	342	Q9NY57	ST32B_HUMAN	Q	342;265;295	ENSP00000282908:K342Q;ENSP00000423209:K265Q;ENSP00000420984:K295Q	ENSP00000282908:K342Q	K	+	1	0	STK32B	5519445	0.914000	0.31030	0.874000	0.34290	0.090000	0.18270	1.958000	0.40402	1.862000	0.54008	0.472000	0.43445	AAG		0.502	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	40	0	0	0	1	0	3	40					C	5468544	A	C	5468544	3	2	53	1	0	0	0	0	1	0	0	0	15297	15	1	5	1062	5	STK32B	4	5468544	Missense_Mutation	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08		5468544	185685732	3	1015											
MAS1L	116511	broad.mit.edu	37	6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.2																			1	Substitution - Missense(1)	p.R324G(2)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.							94	100	98					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly		Somatic					p.R324G	NM_052967	NP_443199	WXS	Illumina GAIIx	Phase_I	P35410	MAS1L_HUMAN			0	970	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		3	127	0	0	0	1	0	3	127					C	29454710	T	C	29454710	3	2	53	1	0	0	0	0	1	0	0	0	9321	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		29454710	141660357	4	1016											
RGL2	5863	broad.mit.edu	37	6	33263171	33263171	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr6:33263171G>A	ENST00000497454.1	-	8	1544	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	RGL2_ENST00000444031.2_Missense_Mutation_p.S268L|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	350	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGCATAAACTGAAGAGAAGTT	0.602																																						uc003odv.3																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(1048-1050)tCa>tTa		Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.							30	33	32					6																	33263171		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263171G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1049C>T	6.37:g.33263171G>A	ENSP00000420211:p.Ser350Leu		Somatic				RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Missense_Mutation_p.S268L|RGL2_uc011drb.2_Missense_Mutation_p.S268L	p.S350L	NM_004761	NP_001230667	WXS	Illumina GAIIx	Phase_I	O15211	RGL2_HUMAN			7	1609	-			350			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1049C>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758180	0.69763	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.40476	1.03;1.03	5.01	5.01	0.66863	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.92833	3.35	0.80722	D	1	D;B	0.89917	1.0;0.43	D;B	0.91635	0.999;0.191	T	0.74685	-0.3582	10	0.87932	D	0	.	13.6974	0.62589	0.0:0.0:1.0:0.0	.	268;350	B4DG72;O15211	.;RGL2_HUMAN	L	350;214;268	ENSP00000420211:S350L;ENSP00000403070:S268L	ENSP00000400083:S214L	S	-	2	0	RGL2	33371149	1.000000	0.71417	0.917000	0.36280	0.991000	0.79684	6.544000	0.73878	2.599000	0.87857	0.643000	0.83706	TCA		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			5	6	0	0	0	1	0	5	6					A	33263171	G	A	33263171	3	1	53	1	0	0	0	0	1	0	0	0	13277	1294	45	2	1328	2	RGL2	6	33263171	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08	3808461	33263171	137851896	5	1017											
TG	7038	broad.mit.edu	37	8	133906022	133906022	+	Missense_Mutation	SNP	G	G	A	rs375996100	byFrequency	TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr8:133906022G>A	ENST00000220616.4	+	11	2889	c.2849G>A	c.(2848-2850)cGg>cAg	p.R950Q	TG_ENST00000377869.1_Missense_Mutation_p.R950Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	950	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		AACAGTTCTCGGTTCCCTCTG	0.572																																						uc003ytw.3																			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.(2848-2850)cGg>cAg		Homo sapiens thyroglobulin (TG), mRNA.							134	125	128					8																	133906022		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133906022G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2849G>A	8.37:g.133906022G>A	ENSP00000220616:p.Arg950Gln		Somatic					p.R950Q	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2890	+	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)	950			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2849G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	g	8.366	0.834213	0.16820	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62105	0.05;0.05	5.14	-4.8	0.03190	.	1.621170	0.03855	N	0.272902	T	0.30355	0.0762	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19160	-1.0314	10	0.19147	T	0.46	.	8.4662	0.32958	0.6663:0.1668:0.1669:0.0	.	950	P01266	THYG_HUMAN	Q	950	ENSP00000367100:R950Q;ENSP00000220616:R950Q	ENSP00000220616:R950Q	R	+	2	0	TG	133975204	0.000000	0.05858	0.001000	0.08648	0.735000	0.41995	-0.425000	0.07017	-0.782000	0.04541	0.380000	0.24917	CGG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	111	0	0	0	1	0	4	111					A	133906022	G	A	133906022	3	1	53	1	0	0	0	0	1	0	0	0	15810	1116	39	1	2891	1	TG	8	133906022	Missense_Mutation	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		133906022	12458000	6	1018											
TLR4	7099	broad.mit.edu	37	9	120475419	120475419	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr9:120475419T>C	ENST00000355622.6	+	3	1114	c.1013T>C	c.(1012-1014)gTt>gCt	p.V338A	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V298A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	338					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTAGAATTAGTTAACTGTAAA	0.338																																						uc004bjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1012-1014)gTt>gCt		Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.							58	65	63					9																	120475419		2202	4300	6502	SO:0001583	missense	7099				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475419T>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1013T>C	9.37:g.120475419T>C	ENSP00000363089:p.Val338Ala		Somatic				TLR4_uc004bkb.3_Missense_Mutation_p.V138A|TLR4_uc004bka.3_Missense_Mutation_p.V298A	p.V338A	NM_138554	NP_612564	WXS	Illumina GAIIx	Phase_I	O00206	TLR4_HUMAN			2	1304	+			338					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1013T>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417180	0.25552	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.20598	2.06;2.06	5.78	-1.28	0.09318	.	1.527470	0.03523	N	0.221283	T	0.20861	0.0502	L	0.50333	1.59	0.09310	N	1	B	0.28850	0.225	B	0.33392	0.163	T	0.31475	-0.9942	10	0.37606	T	0.19	.	4.7753	0.13176	0.238:0.406:0.0:0.356	.	338	O00206	TLR4_HUMAN	A	298;338	ENSP00000377997:V298A;ENSP00000363089:V338A	ENSP00000363089:V338A	V	+	2	0	TLR4	119515240	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.573000	0.23699	0.092000	0.17331	0.533000	0.62120	GTT		0.338	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		14	60	0	0	0	1	0	14	60					C	120475419	T	C	120475419	3	2	53	1	0	0	0	0	1	0	0	0	15950	1725	60	3	1023	3	TLR4	9	120475419	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		120475419	20738012	7	1019											
TUBB2C	10383	broad.mit.edu	37	9	140137041	140137041	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr9:140137041C>G	ENST00000340384.4	+	4	519	c.371C>G	c.(370-372)gCt>gGt	p.A124G		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	124					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	AGAAAGGAGGCTGAGAGCTGT	0.617																																						uc004cmh.1																			0											c.(370-372)gCt>gGt		Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.							74	74	74					9																	140137041		2203	4300	6503	SO:0001583	missense	10383				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137041C>G	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.371C>G	9.37:g.140137041C>G	ENSP00000341289:p.Ala124Gly		Somatic				TUBB4B_uc004cmg.1_5'UTR	p.A124G	NM_006088	NP_006079	WXS	Illumina GAIIx	Phase_I	P68371	TBB2C_HUMAN			3	473	+			124					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.371C>G	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503458	0.44558	.	.	ENSG00000188229	ENST00000340384	T	0.71222	-0.55	5.07	4.11	0.48088	.	0.202562	0.29653	N	0.011542	D	0.86138	0.5861	H	0.98951	4.38	0.54753	D	0.999982	B	0.30211	0.273	B	0.42593	0.392	D	0.89167	0.3534	10	0.87932	D	0	.	13.0161	0.58757	0.1618:0.8382:0.0:0.0	.	124	P68371	TBB4B_HUMAN	G	124	ENSP00000341289:A124G	ENSP00000341289:A124G	A	+	2	0	TUBB2C	139256862	0.995000	0.38212	0.982000	0.44146	0.990000	0.78478	3.243000	0.51392	2.359000	0.80004	0.655000	0.94253	GCT		0.617	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		26	46	0	0	0	1	0	26	46					G	140137041	C	G	140137041	3	3	53	1	0	0	0	0	1	0	0	0	16753	797	28	4	385	4	TUBB2C	9	140137041	Missense_Mutation	SNP	C	TCGA-DE-A2OL-01A-11D-A18F-08	19661622	140137041	1076390	8	1020											
OTUB1	55611	broad.mit.edu	37	11	63764532	63764532	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr11:63764532T>C	ENST00000538426.1	+	6	478	c.434T>C	c.(433-435)cTg>cCg	p.L145P	OTUB1_ENST00000428192.2_Missense_Mutation_p.L145P|OTUB1_ENST00000543988.1_Missense_Mutation_p.L115P|OTUB1_ENST00000543004.1_Missense_Mutation_p.L154P|OTUB1_ENST00000422031.2_Missense_Mutation_p.L182P|OTUB1_ENST00000535715.1_Missense_Mutation_p.L145P|OTUB1_ENST00000541478.1_Missense_Mutation_p.L44P	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	145	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TTCATGGACCTGATTGAGCAG	0.617																																						uc001nyg.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(562-564)cTg>cCg		Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 2, non-coding RNA.							121	105	111					11																	63764532		2201	4297	6498	SO:0001583	missense	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764532T>C	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.434T>C	11.37:g.63764532T>C	ENSP00000444357:p.Leu145Pro		Somatic				OTUB1_uc001nyf.1_Missense_Mutation_p.L145P|OTUB1_uc010rna.1_Missense_Mutation_p.L154P|OTUB1_uc009ypb.1_Missense_Mutation_p.L115P	p.L188P			WXS	Illumina GAIIx	Phase_I	Q96FW1	OTUB1_HUMAN			4	1246	+			145			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	c.563T>C	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452811	0.63290	.	.	ENSG00000167770	ENST00000541478;ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	4.9	4.9	0.64082	Ovarian tumour, otubain (1);	0.082410	0.49916	D	0.000137	T	0.72526	0.3471	M	0.88704	2.975	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;0.998;0.998	T	0.78135	-0.2322	10	0.62326	D	0.03	.	13.9457	0.64082	0.0:0.0:0.0:1.0	.	182;44;189;145	B4DPD5;F5H3F0;Q96FW1-2;Q96FW1	.;.;.;OTUB1_HUMAN	P	44;145;145;182;145;154;115	ENSP00000439142:L44P;ENSP00000440211:L145P;ENSP00000402551:L145P;ENSP00000416973:L182P;ENSP00000444357:L145P;ENSP00000437453:L154P;ENSP00000441328:L115P	ENSP00000416973:L182P	L	+	2	0	OTUB1	63521108	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	5.853000	0.69496	2.196000	0.70406	0.533000	0.62120	CTG		0.617	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		3	84	0	0	0	1	0	3	84					C	63764532	T	C	63764532	3	2	53	1	0	0	0	0	1	0	0	0	11311	1580	55	3	456	3	OTUB1	11	63764532	Missense_Mutation	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		63764532	71241984	9	1021											
FOXM1	2305	broad.mit.edu	37	12	2983216	2983216	+	Silent	SNP	T	T	G			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:2983216T>G	ENST00000359843.3	-	2	497	c.429A>C	c.(427-429)ccA>ccC	p.P143P	FOXM1_ENST00000361953.3_Silent_p.P143P|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000342628.2_Silent_p.P143P	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	143					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)			CTGCAGGTTTTGGTCCCAAGG	0.572																																						uc001qle.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(427-429)ccA>ccC		Homo sapiens forkhead box M1 (FOXM1), transcript variant 1, mRNA.							190	185	187					12																	2983216		2203	4300	6503	SO:0001819	synonymous_variant	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 Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|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.chr12:2983216T>G	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.429A>C	12.37:g.2983216T>G			Somatic				FOXM1_uc001qlf.3_Silent_p.P143P|FOXM1_uc009zea.3_Silent_p.P143P|FOXM1_uc009zeb.3_Silent_p.P143P|FOXM1_uc001qlg.3_Silent_p.P143P	p.P143P	NM_202002	NP_973731	WXS	Illumina GAIIx	Phase_I	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		1	712	-			143					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.429A>C	CCDS8515.1																																																																																				0.572	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		3	134	0	0	0	1	0	3	134					G	2983216	T	G	2983216	2	3	53	1	0	0	0	0	0	0	0	1	6018	1799	63	5		5	FOXM1	12	2983216	Silent	SNP	T	TCGA-DE-A2OL-01A-11D-A18F-08		2983216	130868679	10	1022											
TEAD4	7004	broad.mit.edu	37	12	3127744	3127744	+	Missense_Mutation	SNP	A	A	T			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr12:3127744A>T	ENST00000397122.2	+	5	415	c.130A>T	c.(130-132)Acg>Tcg	p.T44S	TEAD4_ENST00000358409.2_Missense_Mutation_p.T130S|TEAD4_ENST00000359864.2_Missense_Mutation_p.T173S	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	173					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCAAGCCGGAACGTCCCATGA	0.582																																						uc010sej.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(517-519)Acg>Tcg		Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.							125	109	114					12																	3127744		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3127744A>T	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.130A>T	12.37:g.3127744A>T	ENSP00000380311:p.Thr44Ser		Somatic				TEAD4_uc010sek.2_Missense_Mutation_p.T130S|TEAD4_uc001qln.3_Missense_Mutation_p.T44S	p.T173S	NM_201443	NP_958851	WXS	Illumina GAIIx	Phase_I	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		6	809	+	Ovarian(42;0.211)		173					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.517A>T	CCDS41737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.600|7.600	0.672587|0.672587	0.14776|0.14776	.|.	.|.	ENSG00000197905|ENSG00000197905	ENST00000544666|ENST00000358409;ENST00000359864;ENST00000543035;ENST00000397122	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	5.36|5.36	1.42|1.42	0.22433|0.22433	.|.	.|0.489617	.|0.22311	.|N	.|0.061729	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.10837|0.10837	0.055|0.055	0.27204|0.27204	N|N	0.960085|0.960085	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.22977|0.22977	-1.0201|-1.0201	6|10	0.87932|0.07325	D|T	0|0.83	-1.2787|-1.2787	1.5158|1.5158	0.02506|0.02506	0.5249:0.1429:0.0893:0.243|0.5249:0.1429:0.0893:0.243	.|.	.|173	.|Q15561	.|TEAD4_HUMAN	I|S	95|130;173;173;44	.|ENSP00000351184:T130S;ENSP00000352926:T173S;ENSP00000380311:T44S	ENSP00000411475:N108I|ENSP00000351184:T130S	N|T	+|+	2|1	0|0	TEAD4|TEAD4	2998005|2998005	0.749000|0.749000	0.28305|0.28305	0.972000|0.972000	0.41901|0.41901	0.944000|0.944000	0.59088|0.59088	0.730000|0.730000	0.26043|0.26043	0.326000|0.326000	0.23384|0.23384	0.533000|0.533000	0.62120|0.62120	AAC|ACG		0.582	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		18	45	0	0	0	1	0	18	45					T	3127744	A	T	3127744	3	4	53	1	0	0	0	0	1	0	0	0	15738	43	2	5	535	5	TEAD4	12	3127744	Missense_Mutation	SNP	A	TCGA-DE-A2OL-01A-11D-A18F-08	144528	3127744	130724151	11	1023											
DOK6	220164	broad.mit.edu	37	18	67231729	67231729	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr18:67231729delA	ENST00000382713.5	+	2	263	c.73delA	c.(73-75)agafs	p.R26fs	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	26	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCAGATTTTCAGACGATGCTG	0.328																																						uc002lkl.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(73-75)agafs		Homo sapiens docking protein 6 (DOK6), mRNA.							80	79	79					18																	67231729		2203	4300	6503	SO:0001589	frameshift_variant	220164						insulin receptor binding	g.chr18:67231729delA	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.73delA	18.37:g.67231729delA	ENSP00000372160:p.Arg26fs		Somatic					p.R25fs	NM_152721	NP_689934	WXS	Illumina GAIIx	Phase_I	Q6PKX4	DOK6_HUMAN			1	270	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	25			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Frame_Shift_Del	DEL	ENST00000382713.5	37	c.73delA	CCDS32841.1																																																																																				0.328	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		18	23						18	23	---	---	---	---	-	67231729	A	-	67231729	7	5	53	1	0	1	0	1	0	0	0	0	4701	180	7	0	79	0	DOK6	18	67231729	Frame_Shift_Del	DEL	A	TCGA-DE-A2OL-01A-11D-A18F-08		67231729	10845519	12	1024											
UBASH3A	53347	broad.mit.edu	37	21	43838718	43838718	+	Splice_Site	SNP	G	G	T			TCGA-DE-A2OL-01A-11D-A18F-08	TCGA-DE-A2OL-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc812906-d3b6-4210-a842-96f095280cbf	385b3242-e4b2-4574-9289-48b8826ae644	g.chr21:43838718G>T	ENST00000319294.6	+	7	1077	c.1046G>T	c.(1045-1047)aGg>aTg	p.R349M	UBASH3A_ENST00000291535.6_Splice_Site_p.R311M|RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000398367.1_Splice_Site_p.R311M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	349					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGAAGCACAGGTGAGTGCTG	0.582																																						uc002zbe.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.e7+1		Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.							28	30	29					21																	43838718		2203	4300	6503	SO:0001630	splice_region_variant	53347					cytosol|nucleus		g.chr21:43838718G>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1046+1G>T	21.37:g.43838718G>T			Somatic				UBASH3A_uc002zbf.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpe.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpc.3_Splice_Site|UBASH3A_uc010gpd.3_Splice_Site|U6_uc021wjq.1_5'Flank	p.R349_splice	NM_018961	NP_061834	WXS	Illumina GAIIx	Phase_I	P57075	UBS3A_HUMAN			7	1130	+			349					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Splice_Site	SNP	ENST00000319294.6	37	c.1046_splice	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955041	0.73902	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.10860	3.0;2.99;2.83	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.22666	0.0547	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.03139	-1.1068	10	0.54805	T	0.06	-36.5097	18.9442	0.92615	0.0:0.0:1.0:0.0	.	311;311;349	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	311;349;311	ENSP00000291535:R311M;ENSP00000317327:R349M;ENSP00000381408:R311M	ENSP00000291535:R311M	R	+	2	0	UBASH3A	42711787	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.087000	0.76893	2.466000	0.83321	0.591000	0.81541	AGG		0.582	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	Missense_Mutation	13	17	0	0	0	1	0	13	17					T	43838718	G	T	43838718	5	4	53	1	0	0	0	0	0	0	1	0	16836	1014	35	4	1072	4	UBASH3A	21	43838718	Splice_Site	SNP	G	TCGA-DE-A2OL-01A-11D-A18F-08		43838718	4291177	13	1025											
DOCK7	85440	broad.mit.edu	37	1	63113974	63113974	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr1:63113974G>A	ENST00000340370.5	-	6	552	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	DOCK7_ENST00000251157.5_Missense_Mutation_p.R179C|DOCK7_ENST00000404627.2_Missense_Mutation_p.R179C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	179					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GACATTGAACGTCTTTTAAGG	0.299																																						uc001daq.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(535-537)Cgt>Tgt		Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.							46	47	47					1																	63113974		2190	4294	6484	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity	g.chr1:63113974G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.535C>T	1.37:g.63113974G>A	ENSP00000340742:p.Arg179Cys		Somatic				DOCK7_uc001dan.3_Missense_Mutation_p.R71C|DOCK7_uc001dao.3_Missense_Mutation_p.R71C|DOCK7_uc001dap.3_Missense_Mutation_p.R179C|DOCK7_uc009wah.1_Missense_Mutation_p.R179C	p.R179C	NM_033407	NP_212132	WXS	Illumina GAIIx	Phase_I	Q96N67	DOCK7_HUMAN			5	569	-			179					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.535C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620921	0.28889	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.21361	2.42;2.42;2.01	4.53	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.05510	-0.035	0.80722	D	1	B;B;B;B;B	0.19706	0.038;0.018;0.012;0.021;0.023	B;B;B;B;B	0.12837	0.006;0.004;0.008;0.008;0.008	T	0.14062	-1.0486	10	0.45353	T	0.12	.	13.9696	0.64230	0.0:0.0:0.8481:0.1519	.	179;179;179;179;179	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	C	179	ENSP00000251157:R179C;ENSP00000340742:R179C;ENSP00000384446:R179C	ENSP00000251157:R179C	R	-	1	0	DOCK7	62886562	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.770000	0.47662	2.333000	0.79357	0.462000	0.41574	CGT		0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		25	74	0	0	0	1	0	25	74					A	63113974	G	A	63113974	3	1	54	1	0	0	0	0	1	0	0	0	4692	1145	40	1	5970	1	DOCK7	1	63113974	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		63113974	186136647	1	1026											
WDR35	57539	broad.mit.edu	37	2	20132156	20132156	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:20132156G>T	ENST00000345530.3	-	24	2859	c.2744C>A	c.(2743-2745)tCt>tAt	p.S915Y	WDR35_ENST00000281405.4_Missense_Mutation_p.S904Y|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	915					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTAACAGAGATCCAATTTC	0.348																																						uc002rdi.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2743-2745)tCt>tAt		Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.							113	111	112					2																	20132156		2203	4297	6500	SO:0001583	missense	57539							g.chr2:20132156G>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2744C>A	2.37:g.20132156G>T	ENSP00000314444:p.Ser915Tyr		Somatic				WDR35_uc002rdj.3_Missense_Mutation_p.S904Y|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Intron	p.S915Y	NM_001006657	NP_001006658	WXS	Illumina GAIIx	Phase_I	Q9P2L0	WDR35_HUMAN			23	2852	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		915					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.2744C>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202922	0.79127	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.26660	1.72;1.72	5.16	4.28	0.50868	.	0.160158	0.64402	D	0.000020	T	0.35219	0.0924	L	0.59436	1.845	0.80722	D	1	P;B	0.37997	0.614;0.009	P;B	0.46026	0.501;0.017	T	0.17837	-1.0356	10	0.62326	D	0.03	-5.1286	13.0753	0.59083	0.0781:0.0:0.9219:0.0	.	904;915	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	915;904	ENSP00000314444:S915Y;ENSP00000281405:S904Y	ENSP00000281405:S904Y	S	-	2	0	WDR35	19995637	1.000000	0.71417	0.950000	0.38849	0.989000	0.77384	9.737000	0.98831	1.318000	0.45170	0.655000	0.94253	TCT		0.348	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		4	88	0	0	0	1	0	4	88					T	20132156	G	T	20132156	3	4	54	1	0	0	0	0	1	0	0	0	17286	942	33	4	821	4	WDR35	2	20132156	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		20132156	223067217	2	1027											
TANC1	85461	broad.mit.edu	37	2	160087162	160087162	+	Missense_Mutation	SNP	G	G	A	rs527832498		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr2:160087162G>A	ENST00000263635.6	+	27	5462	c.5225G>A	c.(5224-5226)cGc>cAc	p.R1742H	TANC1_ENST00000454300.1_Missense_Mutation_p.R1636H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1742					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCCAAGCCGCAGCTGGCAC	0.582													G|||	1	0.000199681	0	0	5008	,	,		19402	0.001		0	False		,,,				2504	0					uc002uag.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(5224-5226)cGc>cAc		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.							74	83	80					2																	160087162		2066	4203	6269	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160087162G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.5225G>A	2.37:g.160087162G>A	ENSP00000263635:p.Arg1742His		Somatic				TANC1_uc010zcm.2_3'UTR|TANC1_uc010fon.3_Missense_Mutation_p.R586H	p.R1742H	NM_033394	NP_203752	WXS	Illumina GAIIx	Phase_I	Q9C0D5	TANC1_HUMAN			26	5499	+			1742					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.5225G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329954	0.60743	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.78364	-1.16;-1.17	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.64997	1.995	0.54753	D	0.999982	D	0.59767	0.986	B	0.43623	0.425	T	0.78409	-0.2215	9	.	.	.	.	19.609	0.95594	0.0:0.0:1.0:0.0	.	1742	Q9C0D5	TANC1_HUMAN	H	1636;1742	ENSP00000396339:R1636H;ENSP00000263635:R1742H	.	R	+	2	0	TANC1	159795408	1.000000	0.71417	0.373000	0.26003	0.100000	0.18952	7.876000	0.87215	2.882000	0.98803	0.655000	0.94253	CGC		0.582	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	150	0	0	0	1	0	4	150					A	160087162	G	A	160087162	3	1	54	1	0	0	0	0	1	0	0	0	15541	1087	38	1	5328	1	TANC1	2	160087162	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08	139955006	160087162	83112211	3	1028											
PLXNB1	5364	broad.mit.edu	37	3	48453906	48453906	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr3:48453906G>C	ENST00000358536.4	-	26	5247	c.4978C>G	c.(4978-4980)Ctc>Gtc	p.L1660V	PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1477V|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1660V|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L271V|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1477V	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1660					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTCACTGAGCAGAGTGCGG	0.607																																						uc003csw.2																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4978-4980)Ctc>Gtc		Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.							69	65	66					3																	48453906		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48453906G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4978C>G	3.37:g.48453906G>C	ENSP00000351338:p.Leu1660Val		Somatic				PLXNB1_uc003cst.2_Missense_Mutation_p.L110V|PLXNB1_uc003csu.2_Missense_Mutation_p.L1477V|PLXNB1_uc003csx.2_Missense_Mutation_p.L1660V	p.L1660V	NM_002673	NP_002664	WXS	Illumina GAIIx	Phase_I	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	5248	-			1660					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4978C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177140	0.78564	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.03	4.16	0.48862	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.97110	0.972;1.0	T	0.50964	-0.8765	10	0.62326	D	0.03	.	12.7462	0.57283	0.0792:0.0:0.9208:0.0	.	1660;1477	O43157;O43157-2	PLXB1_HUMAN;.	V	1660;1477;1660;271;1477	ENSP00000296440:L1660V;ENSP00000351242:L1477V;ENSP00000351338:L1660V;ENSP00000389320:L271V;ENSP00000414199:L1477V	ENSP00000296440:L1660V	L	-	1	0	PLXNB1	48428910	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.503000	0.66962	1.340000	0.45581	0.551000	0.68910	CTC		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		38	113	0	0	0	1	0	38	113					C	48453906	G	C	48453906	3	2	54	1	0	0	0	0	1	0	0	0	12123	971	34	4	1481	4	PLXNB1	3	48453906	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		48453906	149568524	4	1029											
VCAN	1462	broad.mit.edu	37	5	82816691	82816691	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:82816691C>G	ENST00000265077.3	+	7	3131	c.2566C>G	c.(2566-2568)Ctt>Gtt	p.L856V	VCAN_ENST00000342785.4_Missense_Mutation_p.L856V|VCAN_ENST00000512590.2_Missense_Mutation_p.L808V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	856	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAATTTACTCTTATTCCAGA	0.408																																						uc003kii.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2566-2568)Ctt>Gtt		Homo sapiens versican (VCAN), transcript variant 1, mRNA.							99	101	101					5																	82816691		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816691C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2566C>G	5.37:g.82816691C>G	ENSP00000265077:p.Leu856Val		Somatic				VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L856V|VCAN_uc003kik.3_Intron	p.L856V	NM_004385	NP_004376	WXS	Illumina GAIIx	Phase_I	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	2922	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	856			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2566C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.532058	0.00145	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19938	2.11;2.11;2.11	5.95	1.96	0.26148	.	1.078290	0.07118	N	0.843383	T	0.16342	0.0393	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.18610	0.029;0.024	B;B	0.18561	0.013;0.022	T	0.36625	-0.9740	10	0.02654	T	1	.	9.2158	0.37346	0.0:0.5019:0.4202:0.0779	.	856;856	P13611-3;P13611	.;CSPG2_HUMAN	V	856;856;808	ENSP00000265077:L856V;ENSP00000342768:L856V;ENSP00000425959:L808V	ENSP00000265077:L856V	L	+	1	0	VCAN	82852447	0.001000	0.12720	0.023000	0.16930	0.146000	0.21551	0.110000	0.15437	0.380000	0.24823	0.650000	0.86243	CTT		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		40	84	0	0	0	1	0	40	84					G	82816691	C	G	82816691	3	3	54	1	0	0	0	0	1	0	0	0	17135	913	32	4	2588	4	VCAN	5	82816691	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		82816691	98098569	5	1030											
RBM27	54439	broad.mit.edu	37	5	145649072	145649072	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr5:145649072G>T	ENST00000265271.5	+	17	2782	c.2616G>T	c.(2614-2616)aaG>aaT	p.K872N	RBM27_ENST00000506502.1_Missense_Mutation_p.K817N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	872					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGAGAAGATCTCACAAT	0.299																																						uc003lnz.4																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2614-2616)aaG>aaT		Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.							76	71	72					5																	145649072		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding	g.chr5:145649072G>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2616G>T	5.37:g.145649072G>T	ENSP00000265271:p.Lys872Asn		Somatic				RBM27_uc003lny.2_Missense_Mutation_p.K817N	p.K872N	NM_018989	NP_061862	WXS	Illumina GAIIx	Phase_I	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2782	+			872					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.2616G>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931221	0.34096	.	.	ENSG00000091009	ENST00000265271	T	0.47528	0.84	5.78	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.42245	1.32	0.53688	D	0.999974	D	0.71674	0.998	D	0.76071	0.987	T	0.48559	-0.9025	10	0.18276	T	0.48	-15.821	6.5703	0.22535	0.3546:0.0:0.6454:0.0	.	872	Q9P2N5	RBM27_HUMAN	N	872	ENSP00000265271:K872N	ENSP00000265271:K872N	K	+	3	2	RBM27	145629265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.912000	0.48782	1.452000	0.47756	0.655000	0.94253	AAG		0.299	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		3	47	0	0	0	1	0	3	47					T	145649072	G	T	145649072	3	4	54	1	0	0	0	0	1	0	0	0	13127	933	33	4	2682	4	RBM27	5	145649072	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08	62832381	145649072	35266188	6	1031											
KAAG1	353219	broad.mit.edu	37	6	24358038	24358038	+	Silent	SNP	C	C	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:24358038C>T	ENST00000274766.1	+	1	908	c.171C>T	c.(169-171)tcC>tcT	p.S57S	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	57					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						CTCCGCTGTCCCAGCGGCCTC	0.672																																						uc003ndz.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(169-171)tcC>tcT		Homo sapiens kidney associated antigen 1 (KAAG1), mRNA.							25	28	27					6																	24358038		2201	4291	6492	SO:0001819	synonymous_variant	353219				immune response			g.chr6:24358038C>T	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.171C>T	6.37:g.24358038C>T			Somatic				DCDC2_uc003ndx.3_5'UTR|DCDC2_uc003ndy.3_5'UTR	p.S57S	NM_181337	NP_851854	WXS	Illumina GAIIx	Phase_I	Q9UBP8	KAAG1_HUMAN			0	908	+			57						Silent	SNP	ENST00000274766.1	37	c.171C>T	CCDS4551.1																																																																																				0.672	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			5	47	0	0	0	1	0	5	47					T	24358038	C	T	24358038	2	4	54	1	0	0	0	0	0	0	0	1	7973	610	22	2		2	KAAG1	6	24358038	Silent	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		24358038	146757029	7	1032											
SEC63	11231	broad.mit.edu	37	6	108230223	108230223	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr6:108230223C>T	ENST00000369002.4	-	8	820	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	214	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GCGTATTGAGCGATACCACCA	0.363																																						uc003psc.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(640-642)cGc>cAc		Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.							85	83	84					6																	108230223		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108230223C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.641G>A	6.37:g.108230223C>T	ENSP00000357998:p.Arg214His		Somatic				SEC63_uc003psb.4_Missense_Mutation_p.R74H	p.R214H	NM_007214	NP_009145	WXS	Illumina GAIIx	Phase_I	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	7	910	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	214			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.641G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499092	0.85069	.	.	ENSG00000025796	ENST00000369002;ENST00000423697;ENST00000429168	T;T	0.77620	-1.11;-0.14	5.11	5.11	0.69529	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.971	D;P	0.65684	0.937;0.714	T	0.81788	-0.0772	10	0.49607	T	0.09	-5.7878	11.9685	0.53049	0.0:0.9204:0.0:0.0796	.	214;214	Q9UGP8;B3KQF0	SEC63_HUMAN;.	H	214;74;158	ENSP00000357998:R214H;ENSP00000403144:R158H	ENSP00000357998:R214H	R	-	2	0	SEC63	108336916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.726000	0.68515	2.386000	0.81285	0.557000	0.71058	CGC		0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		3	32	0	0	0	1	0	3	32					T	108230223	C	T	108230223	3	4	54	1	0	0	0	0	1	0	0	0	14005	768	27	1	1697	1	SEC63	6	108230223	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08	83872185	108230223	62884844	8	1033											
RIMS2	9699	broad.mit.edu	37	8	105261745	105261745	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:105261745A>G	ENST00000436393.2	+	26	3915	c.3674A>G	c.(3673-3675)aAg>aGg	p.K1225R	RIMS2_ENST00000507740.1_Missense_Mutation_p.K1021R|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1046R|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1207R|RIMS2_ENST00000339750.2_Missense_Mutation_p.K143R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1269					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGACAAAAAGGGACAGCTG	0.403										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3673-3675)aAg>aGg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							72	75	74					8																	105261745		1864	4087	5951	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	g.chr8:105261745A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3674A>G	8.37:g.105261745A>G	ENSP00000390665:p.Lys1225Arg	HNSCC(12;0.0054)	Somatic				RIMS2_uc003ylp.3_Missense_Mutation_p.K1207R|RIMS2_uc003ylw.2_Missense_Mutation_p.K1214R|RIMS2_uc003ylq.3_Missense_Mutation_p.K1021R|RIMS2_uc003ylr.3_Missense_Mutation_p.K1046R	p.K1225R	NM_014677	NP_055492	WXS	Illumina GAIIx	Phase_I	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		25	3915	+			1269					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3674A>G		.	.	.	.	.	.	.	.	.	.	A	25.6	4.654243	0.88056	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;0.99;-1.01;-1.01;-1.01	5.6	5.6	0.85130	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.80768	0.4686	L	0.28192	0.835	0.80722	D	1	P;P;B;D;D	0.53312	0.709;0.839;0.287;0.959;0.959	B;P;P;D;D	0.67382	0.284;0.836;0.651;0.951;0.951	T	0.80589	-0.1315	9	0.38643	T	0.18	.	15.7857	0.78300	1.0:0.0:0.0:0.0	.	1269;1225;1046;1021;1207	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	R	1244;1207;1269;1046;1021;1214;1225;143;143	ENSP00000384892:K1207R;ENSP00000262231:K1046R;ENSP00000423559:K1021R;ENSP00000386228:K1214R;ENSP00000390665:K1225R;ENSP00000428478:K143R;ENSP00000342051:K143R	ENSP00000262231:K1046R	K	+	2	0	RIMS2	105330921	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.306000	0.78905	2.142000	0.66516	0.528000	0.53228	AAG		0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		3	81	0	0	0	1	0	3	81					G	105261745	A	G	105261745	3	3	54	1	0	0	0	0	1	0	0	0	13368	72	3	3	3902	3	RIMS2	8	105261745	Missense_Mutation	SNP	A	TCGA-DE-A3KN-01A-11D-A20C-08		105261745	41102277	9	1034											
MYC	4609	broad.mit.edu	37	8	128752882	128752882	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr8:128752882T>C	ENST00000377970.2	+	3	1553	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	MYC_ENST00000524013.1_Missense_Mutation_p.L347P	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	333					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GTCAGAGTCCTGAGACAGATC	0.572		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																	uc003ysi.3		3		Dom	yes		8	8q24.12-q24.13	4609	"A, T"	v-myc myelocytomatosis viral oncogene homolog (avian)			"L, E"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"		"Burkitt lymphoma,  amplified in other cancers, B-CLL"		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(1042-1044)cTg>cCg		Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.							92	80	84					8																	128752882		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128752882T>C		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1043T>C	8.37:g.128752882T>C	ENSP00000367207:p.Leu348Pro		Somatic					p.L348P	NM_002467	NP_002458	WXS	Illumina GAIIx	Phase_I	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	1568	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	333					A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.1043T>C	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743547	0.69418	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	T;T	0.21031	2.03;2.03	5.39	5.39	0.77823	Transcription regulator Myc, N-terminal (1);	0.098604	0.40818	N	0.001014	T	0.37046	0.0989	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.12915	-1.0529	10	0.66056	D	0.02	-15.1244	14.5824	0.68300	0.0:0.0:0.0:1.0	.	333	P01106	MYC_HUMAN	P	348;347;314	ENSP00000367207:L348P;ENSP00000430235:L347P	ENSP00000367207:L348P	L	+	2	0	MYC	128822064	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.196000	0.77805	2.038000	0.60285	0.528000	0.53228	CTG		0.572	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			3	77	0	0	0	1	0	3	77					C	128752882	T	C	128752882	3	2	54	1	0	0	0	0	1	0	0	0	10016	1580	55	3	1053	3	MYC	8	128752882	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08	23491137	128752882	17611140	10	1035											
AKNA	80709	broad.mit.edu	37	9	117099483	117099483	+	Missense_Mutation	SNP	C	C	A	rs375161600		TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr9:117099483C>A	ENST00000307564.4	-	22	4332	c.4171G>T	c.(4171-4173)Gac>Tac	p.D1391Y	AKNA_ENST00000223791.3_Missense_Mutation_p.D851Y|AKNA_ENST00000374075.5_Missense_Mutation_p.D1310Y|AKNA_ENST00000374079.4_Missense_Mutation_p.D336Y|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.D1391Y	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1391					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCGCCCAGGTCGAGCTGGATG	0.672																																						uc004biq.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(4171-4173)Gac>Tac		Homo sapiens AT-hook transcription factor (AKNA), mRNA.							41	43	43					9																	117099483		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117099483C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4171G>T	9.37:g.117099483C>A	ENSP00000303769:p.Asp1391Tyr		Somatic				AKNA_uc004bin.3_Missense_Mutation_p.D638Y|AKNA_uc004bio.3_Missense_Mutation_p.D851Y|AKNA_uc004bip.3_Missense_Mutation_p.D1310Y|AKNA_uc004bir.3_Missense_Mutation_p.D1391Y|AKNA_uc004bis.3_Missense_Mutation_p.D1391Y|AKNA_uc010mve.2_Missense_Mutation_p.D1272Y	p.D1391Y	NM_030767	NP_110394	WXS	Illumina GAIIx	Phase_I	Q7Z591	AKNA_HUMAN			20	4306	-			1391					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.4171G>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	8.923	0.961501	0.18583	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.25085	2.37;1.82;2.37;2.13;2.36	5.13	0.0869	0.14448	.	.	.	.	.	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	B;B	0.34372	0.451;0.399	B;B	0.41691	0.257;0.364	T	0.30208	-0.9986	9	0.66056	D	0.02	-0.8336	5.0518	0.14513	0.0:0.4736:0.2818:0.2446	.	1391;1310	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Y	1391;336;1391;851;1310	ENSP00000303769:D1391Y;ENSP00000363192:D336Y;ENSP00000363201:D1391Y;ENSP00000223791:D851Y;ENSP00000363188:D1310Y	ENSP00000223791:D851Y	D	-	1	0	AKNA	116139304	0.010000	0.17322	0.001000	0.08648	0.040000	0.13550	0.679000	0.25291	-0.278000	0.09180	-2.285000	0.00268	GAC		0.672	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		3	80	0	0	0	1	0	3	80					A	117099483	C	A	117099483	3	1	54	1	0	0	0	0	1	0	0	0	463	884	31	4	152	4	AKNA	9	117099483	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		117099483	24113948	11	1036											
PDZD7	79955	broad.mit.edu	37	10	102778754	102778754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr10:102778754delC	ENST00000370215.3	-	8	1374	c.1149delG	c.(1147-1149)tggfs	p.W383fs		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	383						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCACGCTGCACCAGGTCTCCA	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc021pxc.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1147-1149)tggfs		Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 1, mRNA.							9	12	11					10																	102778754		2169	4257	6426	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102778754delC	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1149delG	10.37:g.102778754delC	ENSP00000359234:p.Trp383fs		Somatic	OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1369	PDZD7_uc001ksn.3_Frame_Shift_Del_p.W383fs|PDZD7_uc001kso.2_Frame_Shift_Del_p.W383fs	p.W383fs	NM_001195263	NP_001182192	WXS	Illumina GAIIx	Phase_I	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	7	1399	-			383					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.1149delG	CCDS31269.1																																																																																				0.741	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		2	4						2	4	---	---	---	---	-	102778754	C	-	102778754	7	5	54	1	0	1	0	1	0	0	0	0	11704	508	18	0	416	0	PDZD7	10	102778754	Frame_Shift_Del	DEL	C	TCGA-DE-A3KN-01A-11D-A20C-08		102778754	32755993	12	1037											
ARFIP2	23647	broad.mit.edu	37	11	6499070	6499070	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:6499070G>C	ENST00000254584.2	-	7	831	c.748C>G	c.(748-750)Cgg>Ggg	p.R250G	ARFIP2_ENST00000423813.2_Missense_Mutation_p.R212G|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R165G|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R250G	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	250	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGCATCCCGGGGGCCTAGA	0.572																																					Melanoma(119;796 1674 9049 20480 24794)	uc010ran.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(847-849)Cgg>Ggg		Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 1, mRNA.							71	71	71					11																	6499070		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6499070G>C	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.748C>G	11.37:g.6499070G>C	ENSP00000254584:p.Arg250Gly		Somatic				ARFIP2_uc001mdk.3_Missense_Mutation_p.R250G|ARFIP2_uc010ral.2_Missense_Mutation_p.R212G|ARFIP2_uc010ram.2_Missense_Mutation_p.R165G	p.R283G	NM_001242854	NP_001229783	WXS	Illumina GAIIx	Phase_I	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	1138	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	250			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.847C>G	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243019	0.58995	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.74	4.74	0.60224	Arfaptin-like (3);	0.052422	0.85682	D	0.000000	D	0.86969	0.6061	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.993	D;D;D	0.79784	0.993;0.94;0.985	D	0.85790	0.1367	10	0.33940	T	0.23	.	16.668	0.85258	0.0:0.0:1.0:0.0	.	283;165;250	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	G	250;250;165;212	ENSP00000254584:R250G;ENSP00000379998:R250G;ENSP00000391427:R165G;ENSP00000398375:R212G	ENSP00000254584:R250G	R	-	1	2	ARFIP2	6455646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.241000	0.72369	2.472000	0.83506	0.655000	0.94253	CGG		0.572	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		3	123	0	0	0	1	0	3	123					C	6499070	G	C	6499070	3	2	54	1	0	0	0	0	1	0	0	0	855	1115	39	4	285	4	ARFIP2	11	6499070	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		6499070	128507446	13	1038											
LRRC55	219527	broad.mit.edu	37	11	56950058	56950058	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr11:56950058C>G	ENST00000497933.1	+	1	838	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	201	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTACCGGGGCTGGTGACCCT	0.642																																						uc001njl.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(691-693)Ctg>Gtg		Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.							79	77	78					11																	56950058		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950058C>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.691C>G	11.37:g.56950058C>G	ENSP00000419542:p.Leu231Val		Somatic					p.L231V	NM_001005210	NP_001005210	WXS	Illumina GAIIx	Phase_I	Q6ZSA7	LRC55_HUMAN			0	838	+			201			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.691C>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652906	0.67472	.	.	ENSG00000183908	ENST00000497933	T	0.06449	3.3	5.77	4.86	0.63082	.	0.000000	0.46758	D	0.000279	T	0.33030	0.0849	M	0.92507	3.315	0.47341	D	0.999395	D	0.89917	1.0	D	0.83275	0.996	T	0.41787	-0.9489	10	0.87932	D	0	.	13.605	0.62041	0.0:0.9247:0.0:0.0753	.	201	Q6ZSA7	LRC55_HUMAN	V	231	ENSP00000419542:L231V	ENSP00000419542:L231V	L	+	1	2	LRRC55	56706634	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.803000	0.47924	1.441000	0.47550	0.561000	0.74099	CTG		0.642	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		72	138	0	0	0	1	0	72	138					G	56950058	C	G	56950058	3	3	54	1	0	0	0	0	1	0	0	0	9011	796	28	4	693	4	LRRC55	11	56950058	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08	50450988	56950058	78056458	14	1039											
WNK1	65125	broad.mit.edu	37	12	994570	994570	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr12:994570C>G	ENST00000315939.6	+	19	5243	c.4600C>G	c.(4600-4602)Cat>Gat	p.H1534D	WNK1_ENST00000537687.1_Missense_Mutation_p.H1794D|WNK1_ENST00000535572.1_Missense_Mutation_p.H1287D|WNK1_ENST00000530271.2_Missense_Mutation_p.H2032D|WNK1_ENST00000340908.4_Missense_Mutation_p.H1127D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1534					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAGACATCTCATAGCAGTAC	0.483																																					Colon(19;451 567 6672 12618 28860)	uc021qss.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5380-5382)Cat>Gat		Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.							425	378	394					12																	994570		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994570C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4600C>G	12.37:g.994570C>G	ENSP00000313059:p.His1534Asp		Somatic				WNK1_uc001qio.4_Missense_Mutation_p.H1534D|WNK1_uc021qst.1_Missense_Mutation_p.H1786D|WNK1_uc001qip.4_Missense_Mutation_p.H1287D|WNK1_uc001qir.4_Missense_Mutation_p.H707D	p.H1794D	NM_001184985	NP_001171914	WXS	Illumina GAIIx	Phase_I	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		18	6023	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1534					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5380C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439738	0.12104	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.3	2.22	0.28083	.	0.611588	0.16305	N	0.220291	T	0.36413	0.0966	L	0.44542	1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.23547	-1.0185	10	0.39692	T	0.17	-3.4467	8.0376	0.30502	0.0:0.6162:0.2443:0.1396	.	1287;1287;1534	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	D	1287;1534;1794;707;2032;1127	ENSP00000441972:H1287D;ENSP00000313059:H1534D;ENSP00000444465:H1794D;ENSP00000433548:H2032D;ENSP00000341292:H1127D	ENSP00000252477:H707D	H	+	1	0	WNK1	864831	0.001000	0.12720	0.458000	0.27068	0.330000	0.28571	0.559000	0.23485	0.695000	0.31675	0.655000	0.94253	CAT		0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	689	0	0	0	1	0	7	689					G	994570	C	G	994570	3	3	54	1	0	0	0	0	1	0	0	0	17374	826	29	4	6176	4	WNK1	12	994570	Missense_Mutation	SNP	C	TCGA-DE-A3KN-01A-11D-A20C-08		994570	132857325	15	1040											
SLITRK1	114798	broad.mit.edu	37	13	84455509	84455509	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr13:84455509T>C	ENST00000377084.2	-	1	1019	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	45	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.K45fs*64(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTGAAGCCCTTTTTTTCACA	0.463																																						uc001vlk.3																			1	Deletion - Frameshift(1)	p.K45fs*64(2)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(133-135)aAg>aGg		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							90	89	89					13																	84455509		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455509T>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.134A>G	13.37:g.84455509T>C	ENSP00000366288:p.Lys45Arg		Somatic					p.K45R	NM_052910	NP_443142	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	1020	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	45			LRRNT.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.134A>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	3.734	-0.054985	0.07362	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	4.59	4.59	0.56863	.	0.103397	0.64402	D	0.000003	T	0.26810	0.0656	N	0.10809	0.05	0.41694	D	0.989363	B	0.09022	0.002	B	0.16722	0.016	T	0.09997	-1.0649	10	0.09338	T	0.73	-14.5951	13.2304	0.59941	0.0:0.0:0.0:1.0	.	45	Q96PX8	SLIK1_HUMAN	R	45	ENSP00000366288:K45R	ENSP00000366288:K45R	K	-	2	0	SLITRK1	83353510	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.889000	0.48601	2.050000	0.60909	0.459000	0.35465	AAG		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		3	107	0	0	0	1	0	3	107					C	84455509	T	C	84455509	3	2	54	1	0	0	0	0	1	0	0	0	14742	1609	56	3	1960	3	SLITRK1	13	84455509	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08		84455509	30714369	16	1041											
DYNC1H1	1778	broad.mit.edu	37	14	102509075	102509075	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr14:102509075G>A	ENST00000360184.4	+	69	12667	c.12503G>A	c.(12502-12504)cGg>cAg	p.R4168Q	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4168	AAA 6. {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						CCCGTCTCACGGATATGCAAG	0.577																																						uc001yks.2																			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.(12502-12504)cGg>cAg		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							100	75	83					14																	102509075		2203	4300	6503	SO:0001583	missense	1778				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102509075G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12503G>A	14.37:g.102509075G>A	ENSP00000348965:p.Arg4168Gln		Somatic					p.R4168Q	NM_001376	NP_001367	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			68	12667	+			4168			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12503G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473699	0.84640	.	.	ENSG00000197102	ENST00000360184	T	0.09073	3.02	6.07	6.07	0.98685	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	P	0.58266	0.836	T	0.01056	-1.1466	10	0.21540	T	0.41	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	4168	Q14204	DYHC1_HUMAN	Q	4168	ENSP00000348965:R4168Q	ENSP00000348965:R4168Q	R	+	2	0	DYNC1H1	101578828	1.000000	0.71417	0.039000	0.18376	0.780000	0.44128	9.776000	0.99001	2.884000	0.98904	0.655000	0.94253	CGG		0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		35	45	0	0	0	1	0	35	45					A	102509075	G	A	102509075	3	1	54	1	0	0	0	0	1	0	0	0	4841	1116	39	1	12777	1	DYNC1H1	14	102509075	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		102509075	4840465	17	1042											
HMOX2	3163	broad.mit.edu	37	16	4558163	4558163	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr16:4558163G>C	ENST00000570646.1	+	4	1259	c.654G>C	c.(652-654)agG>agC	p.R218S	HMOX2_ENST00000414777.1_Missense_Mutation_p.R218S|HMOX2_ENST00000458134.3_Missense_Mutation_p.R218S|HMOX2_ENST00000575120.1_Missense_Mutation_p.R189S|HMOX2_ENST00000398595.3_Missense_Mutation_p.R218S|HMOX2_ENST00000219700.6_Missense_Mutation_p.R218S|HMOX2_ENST00000406590.2_Missense_Mutation_p.R218S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	218					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						CCAAAGAGAGGATCGTGGAGG	0.522																																						uc010bts.3																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(652-654)agG>agC		Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA.	NADH(DB00157)						84	79	81					16																	4558163		2197	4300	6497	SO:0001583	missense	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4558163G>C		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.654G>C	16.37:g.4558163G>C	ENSP00000459214:p.Arg218Ser		Somatic				HMOX2_uc002cwr.4_Missense_Mutation_p.R218S|HMOX2_uc002cwq.4_Missense_Mutation_p.R218S|HMOX2_uc010btt.3_Missense_Mutation_p.R218S|HMOX2_uc002cwt.3_Missense_Mutation_p.R218S	p.R218S	NM_001127206	NP_002125	WXS	Illumina GAIIx	Phase_I	P30519	HMOX2_HUMAN			3	825	+			218					A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	c.654G>C	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150719	0.37923	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.57	0.912	0.19349	Haem oxygenase-like, multi-helical (2);	0.254184	0.50627	D	0.000117	T	0.20047	0.0482	L	0.37466	1.105	0.36530	D	0.870669	B;B	0.23249	0.082;0.082	B;B	0.33620	0.167;0.167	T	0.10359	-1.0633	10	0.48119	T	0.1	-6.8957	6.6766	0.23098	0.319:0.1253:0.5557:0.0	.	218;218	B3KSE0;P30519	.;HMOX2_HUMAN	S	218	ENSP00000385100:R218S;ENSP00000394103:R218S;ENSP00000219700:R218S;ENSP00000391637:R218S;ENSP00000381595:R218S	ENSP00000219700:R218S	R	+	3	2	HMOX2	4498164	1.000000	0.71417	0.643000	0.29450	0.975000	0.68041	1.731000	0.38135	0.328000	0.23435	-0.258000	0.10820	AGG		0.522	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			29	65	0	0	0	1	0	29	65					C	4558163	G	C	4558163	3	2	54	1	0	0	0	0	1	0	0	0	7244	1165	41	4	664	4	HMOX2	16	4558163	Missense_Mutation	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		4558163	85796590	18	1043											
PLCD3	113026	broad.mit.edu	37	17	43197710	43197710	+	Silent	SNP	G	G	A			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:43197710G>A	ENST00000322765.5	-	4	779	c.666C>T	c.(664-666)taC>taT	p.Y222Y	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	222	EF-hand 2.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GGAGGTAGGCGTACATGTCGT	0.577																																						uc002iib.3																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(664-666)taC>taT		Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	Phosphatidylserine(DB00144)						132	143	139					17																	43197710		2188	4286	6474	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43197710G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.666C>T	17.37:g.43197710G>A			Somatic					p.Y222Y	NM_133373	NP_588614	WXS	Illumina GAIIx	Phase_I	Q8N3E9	PLCD3_HUMAN			3	780	-			222			EF-hand 2.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.666C>T																																																																																					0.577	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	30	0	0	0	1	0	3	30					A	43197710	G	A	43197710	2	1	54	1	0	0	0	0	0	0	0	1	12032	1140	40	1		1	PLCD3	17	43197710	Silent	SNP	G	TCGA-DE-A3KN-01A-11D-A20C-08		43197710	37997500	19	1044											
WDR45L	56270	broad.mit.edu	37	17	80574465	80574465	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A3KN-01A-11D-A20C-08	TCGA-DE-A3KN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07a7c634-bd9a-4fc2-b9fe-87b060ec3d1f	1c6abcc3-1a61-441a-921d-6d06f762c1a3	g.chr17:80574465T>C	ENST00000392325.4	-	9	1057	c.863A>G	c.(862-864)aAg>aGg	p.K288R	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	288																	AACCTGAAACTTGGAGAAACT	0.493																																						uc002kfq.3																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12						c.(862-864)aAg>aGg		Homo sapiens WDR45-like (WDR45L), mRNA.							116	115	115					17																	80574465		2203	4300	6503	SO:0001583	missense	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80574465T>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.863A>G	17.37:g.80574465T>C	ENSP00000376139:p.Lys288Arg		Somatic				WDR45L_uc002kfr.3_Non-coding_Transcript	p.K288R	NM_019613	NP_062559	WXS	Illumina GAIIx	Phase_I	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		8	1058	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	288					O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.863A>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423489	0.43020	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.77750	-1.12	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045892	0.85682	D	0.000000	T	0.62804	0.2458	N	0.17345	0.48	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.58239	-0.7671	10	0.15066	T	0.55	-10.5632	15.1078	0.72334	0.0:0.0:0.0:1.0	.	288	Q5MNZ6	WIPI3_HUMAN	R	288;260	ENSP00000376139:K288R	ENSP00000376139:K288R	K	-	2	0	WDR45L	78167754	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.724000	0.68500	1.981000	0.57761	0.460000	0.39030	AAG		0.493	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		3	101	0	0	0	1	0	3	101					C	80574465	T	C	80574465	3	2	54	1	0	0	0	0	1	0	0	0	17295	1609	56	3	179	3	WDR45L	17	80574465	Missense_Mutation	SNP	T	TCGA-DE-A3KN-01A-11D-A20C-08	37376755	80574465	620745	20	1045											
DYSF	8291	broad.mit.edu	37	2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T	rs200990851		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr2:71909724C>T	ENST00000258104.3	+	54	6398	c.6121C>T	c.(6121-6123)Cgg>Tgg	p.R2041W	DYSF_ENST00000413539.2_Missense_Mutation_p.R2072W|DYSF_ENST00000410041.1_Missense_Mutation_p.R2059W|DYSF_ENST00000409762.1_Missense_Mutation_p.R2058W|DYSF_ENST00000409744.1_Missense_Mutation_p.R2049W|DYSF_ENST00000409582.3_Missense_Mutation_p.R2079W|DYSF_ENST00000409366.1_Missense_Mutation_p.R2063W|DYSF_ENST00000409651.1_Missense_Mutation_p.R2073W|DYSF_ENST00000410020.3_Missense_Mutation_p.R2080W|DYSF_ENST00000394120.2_Missense_Mutation_p.R2042W|DYSF_ENST00000429174.2_Missense_Mutation_p.R2062W|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2041					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						CATCCTGTGGCGGCGTTTCCG	0.582																																						uc010fen.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.(6238-6240)Cgg>Tgg		Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.							173	125	141					2																	71909724		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909724C>T	AF075575	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		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6121C>T	2.37:g.71909724C>T	ENSP00000258104:p.Arg2041Trp		Somatic				DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W	p.R2080W	NM_001130987	NP_001124459	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			54	6379	+			2041					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6238C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059284	0.76074	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.1	3.13	0.36017	.	0.050411	0.85682	D	0.000000	D	0.91908	0.7438	M	0.84773	2.715	0.53005	D	0.999969	D;D;D;D;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;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.985;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.995;1.0;0.975;0.982;1.0;1.0;0.999	D	0.92459	0.5976	10	0.87932	D	0	-25.7551	11.4408	0.50096	0.4266:0.5734:0.0:0.0	.	805;2073;2080;2063;2028;2059;2049;2058;2048;2072;2079;2062;2027;2042;2041	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	2072;2058;2079;2062;2041;2073;2042;2049;2063;2080;2059	ENSP00000407046:R2072W;ENSP00000387137:R2058W;ENSP00000386547:R2079W;ENSP00000398305:R2062W;ENSP00000258104:R2041W;ENSP00000386683:R2073W;ENSP00000377678:R2042W;ENSP00000386285:R2049W;ENSP00000386512:R2063W;ENSP00000386881:R2080W;ENSP00000386617:R2059W	ENSP00000258104:R2041W	R	+	1	2	DYSF	71763232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.570000	0.36439	1.220000	0.43490	0.655000	0.94253	CGG		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		12	68	0	0	0	1	0	12	68					T	71909724	C	T	71909724	3	4	55	1	0	0	0	0	1	0	0	0	4859	759	27	1	6594	1	DYSF	2	71909724	Missense_Mutation	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		71909724	171289649	1	1046											
SYN2	6854	broad.mit.edu	37	3	12183431	12183431	+	RNA	SNP	G	G	A			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr3:12183431G>A	ENST00000432424.2	+	0	634							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TCAACCTGGTGGCCCATGCAG	0.478																																						uc003bwm.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						c.(448-450)gtG>gtA		Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.							144	135	138					3																	12183431		1926	4136	6062			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12183431G>A		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12183431G>A			Somatic				SYN2_uc003bwl.1_Silent_p.V150V	p.V150V	NM_133625	NP_598328	WXS	Illumina GAIIx	Phase_I	Q86VA8	Q86VA8_HUMAN			5	614	+			154					A8MY98	Silent	SNP	ENST00000432424.2	37	c.450G>A																																																																																					0.478	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	38	0	0	0	1	0	7	38					A	12183431	G	A	12183431	1	1	55	0	1	0	0	0	0	0	0	0	15438	1335	47	2		2	SYN2	3	12183431	RNA	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		12183431	185838999	2	1047											
KDR	3791	broad.mit.edu	37	4	55946325	55946325	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr4:55946325A>G	ENST00000263923.4	-	30	4149	c.3854T>C	c.(3853-3855)aTg>aCg	p.M1285T	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1285					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|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)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGGCACCATTCCACTGCA	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3853-3855)aTg>aCg		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						89	87	88					4																	55946325		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946325A>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3854T>C	4.37:g.55946325A>G	ENSP00000263923:p.Met1285Thr	TSP Lung(20;0.16)	Somatic				KDR_uc003hat.1_Missense_Mutation_p.M1285T	p.M1285T	NM_002253	NP_002244	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		29	4156	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1285					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3854T>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	8.744	0.919759	0.17982	.	.	ENSG00000128052	ENST00000263923	T	0.74947	-0.89	5.63	5.63	0.86233	.	0.130613	0.53938	D	0.000058	T	0.58032	0.2094	N	0.08118	0	0.41401	D	0.987674	B	0.18741	0.03	B	0.19148	0.024	T	0.56323	-0.7998	10	0.45353	T	0.12	.	15.8397	0.78835	1.0:0.0:0.0:0.0	.	1285	P35968	VGFR2_HUMAN	T	1285	ENSP00000263923:M1285T	ENSP00000263923:M1285T	M	-	2	0	KDR	55641082	1.000000	0.71417	0.990000	0.47175	0.057000	0.15508	8.730000	0.91510	2.153000	0.67306	0.533000	0.62120	ATG		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			8	37	0	0	0	1	0	8	37					G	55946325	A	G	55946325	3	3	55	1	0	0	0	0	1	0	0	0	8139	217	8	3	220	3	KDR	4	55946325	Missense_Mutation	SNP	A	TCGA-DE-A4M8-01A-21D-A257-08		55946325	135207951	3	1048											
TERT	7015	broad.mit.edu	37	5	1280291	1280291	+	Silent	SNP	C	C	T	rs148582238	byFrequency	TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr5:1280291C>T	ENST00000310581.5	-	4	1989	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	TERT_ENST00000296820.5_Silent_p.T644T|TERT_ENST00000334602.6_Silent_p.T644T|TERT_ENST00000508104.2_Silent_p.T644T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	644	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTCTGCGGAACGTTCTGGCTC	0.552									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				C|||	3	0.000599042	0.0023	0	5008	,	,		18097	0		0	False		,,,				2504	0					uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1930-1932)acG>acA		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	121	117	119		1932,1932	-9.0	0.0	5	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TERT	NM_001193376.1,NM_198253.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	644/1070,644/1133	1280291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280291C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1932G>A	5.37:g.1280291C>T			Somatic				TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.T644T|TERT_uc003jca.1_Silent_p.T644T|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.T96T	p.T644T	NM_198253	NP_937983	WXS	Illumina GAIIx	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1990	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		644			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.1932G>A	CCDS3861.2																																																																																				0.552	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			6	99	0	0	0	1	0	6	99					T	1280291	C	T	1280291	2	4	55	1	0	0	0	0	0	0	0	1	15761	523	19	1		1	TERT	5	1280291	Silent	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		1280291	179634969	4	1049											
PCDH12	51294	broad.mit.edu	37	5	141329142	141329142	+	Silent	SNP	T	T	C			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr5:141329142T>C	ENST00000231484.3	-	3	4195	c.2985A>G	c.(2983-2985)gcA>gcG	p.A995A	AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	995					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGGGATTGCACTCCTGC	0.493																																						uc003llx.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(2983-2985)gcA>gcG		Homo sapiens protocadherin 12 (PCDH12), mRNA.							119	113	115					5																	141329142		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141329142T>C	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2985A>G	5.37:g.141329142T>C			Somatic					p.A995A	NM_016580	NP_057664	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	4196	-		all_hematologic(541;0.0999)	995					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.2985A>G	CCDS4269.1																																																																																				0.493	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		16	77	0	0	0	1	0	16	77					C	141329142	T	C	141329142	2	2	55	1	0	0	0	0	0	0	0	1	11510	1799	63	3		3	PCDH12	5	141329142	Silent	SNP	T	TCGA-DE-A4M8-01A-21D-A257-08	140048851	141329142	39586118	5	1050											
VWA2	340706	broad.mit.edu	37	10	116045953	116045953	+	Missense_Mutation	SNP	G	G	C	rs147199528		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr10:116045953G>C	ENST00000392982.3	+	11	1503	c.1253G>C	c.(1252-1254)gGc>gCc	p.G418A	VWA2_ENST00000603594.1_Missense_Mutation_p.G418A			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	418	VWFA 2. {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)		TTCCGTGGTGGCCCCACCCTG	0.672																																						uc001lbl.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.(1252-1254)gGc>gCc		Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.							68	62	64					10																	116045953		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045953G>C	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1253G>C	10.37:g.116045953G>C	ENSP00000376708:p.Gly418Ala		Somatic				VWA2_uc001lbk.1_Missense_Mutation_p.G418A|VWA2_uc009xyf.1_Missense_Mutation_p.G114A	p.G418A	NM_198496	NP_940898	WXS	Illumina GAIIx	Phase_I	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	10	1574	+			418			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1253G>C		.	.	.	.	.	.	.	.	.	.	G	26.5	4.744265	0.89663	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.84660	-1.88	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	M	0.93720	3.45	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.95515	0.8589	10	0.72032	D	0.01	.	19.2056	0.93729	0.0:0.0:1.0:0.0	.	114;418;418	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	A	418	ENSP00000376708:G418A	ENSP00000298715:G418A	G	+	2	0	VWA2	116035943	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	9.275000	0.95738	2.625000	0.88918	0.563000	0.77884	GGC		0.672	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		14	49	0	0	0	1	0	14	49					C	116045953	G	C	116045953	3	2	55	1	0	0	0	0	1	0	0	0	17236	1203	42	4	1291	4	VWA2	10	116045953	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		116045953	19488794	6	1051											
FBXO3	26273	broad.mit.edu	37	11	33777500	33777500	+	Silent	SNP	C	C	T			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr11:33777500C>T	ENST00000265651.3	-	5	513	c.495G>A	c.(493-495)ctG>ctA	p.L165L	FBXO3_ENST00000530401.1_Silent_p.L160L|FBXO3_ENST00000534136.1_Silent_p.L165L|FBXO3_ENST00000448981.2_Silent_p.L165L|FBXO3_ENST00000532057.1_5'Flank|FBXO3_ENST00000531080.1_5'Flank|FBXO3_ENST00000526785.1_Silent_p.L52L|FBXO3_ENST00000533103.1_5'Flank	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	165					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AGTGATTAGACAGTGCCATGC	0.428																																						uc001muz.3																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(493-495)ctG>ctA		Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.							71	64	66					11																	33777500		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33777500C>T	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.495G>A	11.37:g.33777500C>T			Somatic				FBXO3_uc010rej.2_5'Flank|FBXO3_uc001muy.3_Silent_p.L52L|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Silent_p.L165L|FBXO3_uc001mvb.1_Silent_p.L160L|FBXO3_uc010rek.1_Intron	p.L165L	NM_012175	NP_036307	WXS	Illumina GAIIx	Phase_I	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	4	523	-		Lung NSC(402;0.0804)	165					B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.495G>A	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182491	0.21870	.	.	ENSG00000110429	ENST00000321458	.	.	.	5.63	1.33	0.21861	.	.	.	.	.	T	0.54532	0.1864	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54886	-0.8226	5	0.59425	D	0.04	-9.4257	2.7057	0.05161	0.1142:0.4322:0.2465:0.2072	.	.	.	.	Y	163	.	ENSP00000315066:C163Y	C	-	2	0	FBXO3	33734076	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	0.815000	0.27253	0.709000	0.31976	-0.300000	0.09419	TGT		0.428	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		3	24	0	0	0	1	0	3	24					T	33777500	C	T	33777500	2	4	55	1	0	0	0	0	0	0	0	1	5739	465	17	2		2	FBXO3	11	33777500	Silent	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08		33777500	101229016	7	1052											
OR8K5	219453	broad.mit.edu	37	11	55927697	55927697	+	Missense_Mutation	SNP	C	C	T	rs200015077		TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr11:55927697C>T	ENST00000313447.1	-	1	96	c.97G>A	c.(97-99)Gtc>Atc	p.V33I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AGGTAGATGACGAGGAAGACT	0.433																																						uc010rja.2																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(97-99)Gtc>Atc		Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.		C	ILE/VAL	0,4402		0,0,2201	135	132	133		97	-7.1	0.5	11		133	2,8590	2.2+/-6.3	0,2,4294	yes	missense	OR8K5	NM_001004058.2	29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	33/308	55927697	2,12992	2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927697C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.97G>A	11.37:g.55927697C>T	ENSP00000323853:p.Val33Ile		Somatic					p.V33I	NM_001004058	NP_001004058	WXS	Illumina GAIIx	Phase_I	Q8NH50	OR8K5_HUMAN			0	97	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	33					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.97G>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.636717	0.00806	0.0	2.33E-4	ENSG00000181752	ENST00000313447	T	0.00438	7.42	3.74	-7.1	0.01547	.	.	.	.	.	T	0.00109	0.0003	N	0.02865	-0.47	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31251	-0.9950	9	0.12766	T	0.61	.	0.5541	0.00668	0.2806:0.167:0.3185:0.234	.	33	Q8NH50	OR8K5_HUMAN	I	33	ENSP00000323853:V33I	ENSP00000323853:V33I	V	-	1	0	OR8K5	55684273	0.000000	0.05858	0.482000	0.27366	0.497000	0.33675	-4.408000	0.00238	-1.009000	0.03400	-0.673000	0.03796	GTC		0.433	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		19	72	0	0	0	1	0	19	72					T	55927697	C	T	55927697	3	4	55	1	0	0	0	0	1	0	0	0	11245	536	19	1	829	1	OR8K5	11	55927697	Missense_Mutation	SNP	C	TCGA-DE-A4M8-01A-21D-A257-08	22150197	55927697	79078819	8	1053											
CDH8	1006	broad.mit.edu	37	16	61761114	61761114	+	Missense_Mutation	SNP	G	G	T			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr16:61761114G>T	ENST00000577390.1	-	9	2374	c.1420C>A	c.(1420-1422)Cac>Aac	p.H474N	CDH8_ENST00000584337.1_Missense_Mutation_p.H474N|CDH8_ENST00000299345.6_Missense_Mutation_p.H474N|CDH8_ENST00000577730.1_Missense_Mutation_p.H474N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	474	Cadherin 4. {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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATCTGACTGTGGTTCCCTATG	0.398																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1420-1422)Cac>Aac		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							172	155	161					16																	61761114		2203	4299	6502	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61761114G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1420C>A	16.37:g.61761114G>T	ENSP00000462701:p.His474Asn		Somatic				CDH8_uc002eoh.3_Missense_Mutation_p.H243N	p.H474N	NM_001796	NP_001787	WXS	Illumina GAIIx	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	8	2375	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	474			Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1420C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813638	0.70912	.	.	ENSG00000150394	ENST00000299345	T	0.01705	4.68	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.03827	0.0108	L	0.31157	0.91	0.80722	D	1	P;P	0.37688	0.605;0.486	B;P	0.45538	0.369;0.484	T	0.57877	-0.7735	10	0.54805	T	0.06	.	19.9498	0.97195	0.0:0.0:1.0:0.0	.	290;474	Q3LID3;P55286	.;CADH8_HUMAN	N	474	ENSP00000299345:H474N	ENSP00000299345:H474N	H	-	1	0	CDH8	60318615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.130000	0.77235	2.715000	0.92844	0.650000	0.86243	CAC		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		14	117	0	0	0	1	0	14	117					T	61761114	G	T	61761114	3	4	55	1	0	0	0	0	1	0	0	0	3116	1348	47	4	995	4	CDH8	16	61761114	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		61761114	28593639	9	1054											
POFUT2	23275	broad.mit.edu	37	21	46689817	46689817	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chr21:46689817G>A	ENST00000349485.5	-	7	975	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Missense_Mutation_p.R317C	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	317					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		ATGAGGCTGCGGATCTTCCTC	0.542																																						uc002zhc.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(949-951)Cgc>Tgc		Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.							92	86	88					21																	46689817		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46689817G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.949C>T	21.37:g.46689817G>A	ENSP00000339613:p.Arg317Cys		Somatic				POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Missense_Mutation_p.R317C	p.R317C	NM_133635	NP_598368	WXS	Illumina GAIIx	Phase_I	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	6	974	-			317					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.949C>T	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.45|18.45	3.627516|3.627516	0.66901|0.66901	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000451615|ENST00000331343;ENST00000349485	.|T;T	.|0.31510	.|1.49;1.49	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|0.160446	.|0.53938	.|D	.|0.000042	T|T	0.50394|0.50394	0.1613|0.1613	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.60682	.|0.854;0.878	T|T	0.54583|0.54583	-0.8272|-0.8272	5|10	.|0.54805	.|T	.|0.06	-16.253|-16.253	14.743|14.743	0.69469|0.69469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;317	.|Q9Y2G5-1;Q9Y2G5	.|.;OFUT2_HUMAN	L|C	239|317	.|ENSP00000329682:R317C;ENSP00000339613:R317C	.|ENSP00000329682:R317C	P|R	-|-	2|1	0|0	POFUT2|POFUT2	45514245|45514245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	4.108000|4.108000	0.57817|0.57817	2.144000|2.144000	0.66660|0.66660	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.542	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		9	55	0	0	0	1	0	9	55					A	46689817	G	A	46689817	3	1	55	1	0	0	0	0	1	0	0	0	12184	1116	39	1	491	1	POFUT2	21	46689817	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		46689817	1440078	10	1055											
TMSB15A	11013	broad.mit.edu	37	X	101770045	101770045	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4M8-01A-21D-A257-08	TCGA-DE-A4M8-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21090199-d43b-4ef6-a376-cb3ca837a2e1	f49ebc02-7d89-4558-809e-5ae294a0559b	g.chrX:101770045G>A	ENST00000289373.4	-	2	182	c.47C>T	c.(46-48)tCa>tTa	p.S16L		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	16					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						CTTCAGTTTTGACCTGTCAAA	0.368																																						uc004eje.3																			0				large_intestine(1)|lung(1)	2						c.(46-48)tCa>tTa		Homo sapiens thymosin beta 15a (TMSB15A), mRNA.							124	117	120					X																	101770045		2203	4300	6503	SO:0001583	missense	11013				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:101770045G>A	D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"thymosin-like 8"	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.47C>T	X.37:g.101770045G>A	ENSP00000289373:p.Ser16Leu		Somatic					p.S16L	NM_021992	NP_919305	WXS	Illumina GAIIx	Phase_I	P0CG34	TB15A_HUMAN			1	170	-			16					A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	c.47C>T	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	G	9.202	1.028615	0.19512	.	.	ENSG00000158164	ENST00000289373	T	0.47869	0.83	3.65	1.55	0.23275	.	0.502464	0.13113	N	0.412858	T	0.35335	0.0928	.	.	.	0.22796	N	0.998725	B	0.31949	0.348	B	0.34652	0.187	T	0.30179	-0.9987	9	0.59425	D	0.04	-18.8619	5.0532	0.14520	0.0:0.1854:0.3758:0.4388	.	16	P0CG34	TB15A_HUMAN	L	16	ENSP00000289373:S16L	ENSP00000289373:S16L	S	-	2	0	TMSB15A	101656701	0.993000	0.37304	0.993000	0.49108	0.968000	0.65278	0.398000	0.20899	0.567000	0.29293	0.529000	0.55759	TCA		0.368	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992		9	79	0	0	0	1	0	9	79					A	101770045	G	A	101770045	3	1	55	1	0	0	0	0	1	0	0	0	16252	1294	45	2	98	2	TMSB15A	23	101770045	Missense_Mutation	SNP	G	TCGA-DE-A4M8-01A-21D-A257-08		101770045	53500515	11	1056											
GPR75	10936	broad.mit.edu	37	2	54081132	54081132	+	Silent	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr2:54081132C>T	ENST00000394705.2	-	2	1032	c.762G>A	c.(760-762)ggG>ggA	p.G254G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	254					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACAGGGACCCCCATGAAAG	0.537																																						uc002rxo.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(760-762)ggG>ggA		Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.							88	89	88					2																	54081132		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081132C>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.762G>A	2.37:g.54081132C>T			Somatic				GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc021vhn.1_Silent_p.G254G	p.G254G	NM_006794	NP_006785	WXS	Illumina GAIIx	Phase_I	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		1	1077	-			254					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.762G>A	CCDS1849.1																																																																																				0.537	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			18	38	0	0	0	1	0	18	38					T	54081132	C	T	54081132	2	4	56	1	0	0	0	0	0	0	0	1	6708	610	22	2		2	GPR75	2	54081132	Silent	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		54081132	189118241	1	1057											
SAMD7	344658	broad.mit.edu	37	3	169644878	169644878	+	Silent	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562																																						uc003fgd.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(826-828)gaC>gaT		Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.							61	60	61					3																	169644878		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644878C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"Sterile alpha motif (SAM) domain containing"	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.828C>T	3.37:g.169644878C>T			Somatic				SAMD7_uc003fge.3_Silent_p.D276D|SAMD7_uc011bpo.2_Silent_p.D177D	p.D276D	NM_182610	NP_872416	WXS	Illumina GAIIx	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		5	1095	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		276						Silent	SNP	ENST00000428432.2	37	c.828C>T	CCDS3209.1																																																																																				0.562	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		33	42	0	0	0	1	0	33	42					T	169644878	C	T	169644878	2	4	56	1	0	0	0	0	0	0	0	1	13824	535	19	1		1	SAMD7	3	169644878	Silent	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		169644878	28377552	2	1058											
FSTL4	23105	broad.mit.edu	37	5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:132535059C>T	ENST00000265342.7	-	16	2506	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	753						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A753T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572																																						uc003kyn.1																			1	Substitution - Missense(1)	p.A753T(2)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2257-2259)Gcg>Acg		Homo sapiens follistatin-like 4 (FSTL4), mRNA.							70	69	69					5																	132535059		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535059C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2257G>A	5.37:g.132535059C>T	ENSP00000265342:p.Ala753Thr		Somatic				FSTL4_uc003kym.1_Missense_Mutation_p.A402T	p.A753T	NM_015082	NP_055897	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2475	-		all_cancers(142;0.244)	753					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2257G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277045	0.59758	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.28069	1.63	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	T	0.65780	-0.6085	10	0.72032	D	0.01	-23.8056	16.769	0.85532	0.0:1.0:0.0:0.0	.	753;402	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	T	753;584	ENSP00000265342:A753T	ENSP00000265342:A753T	A	-	1	0	FSTL4	132562958	1.000000	0.71417	0.126000	0.21872	0.002000	0.02628	4.540000	0.60664	2.200000	0.70718	0.585000	0.79938	GCG		0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		29	37	0	0	0	1	0	29	37					T	132535059	C	T	132535059	3	4	56	1	0	0	0	0	1	0	0	0	6079	768	27	1	275	1	FSTL4	5	132535059	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		132535059	48380201	3	1059											
KCNIP1	30820	broad.mit.edu	37	5	170148874	170148874	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:170148874C>A	ENST00000411494.1	+	5	327	c.327C>A	c.(325-327)ttC>ttA	p.F109L	KCNIP1_ENST00000434108.1_Missense_Mutation_p.F123L|KCNIP1_ENST00000520740.1_Missense_Mutation_p.F70L|KCNIP1_ENST00000390656.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000328939.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000377360.4_Missense_Mutation_p.F107L			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	109	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547																																						uc010jjq.3																			1	Substitution - coding silent(1)	p.F109F(1)	large_intestine(1)	autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(367-369)ttC>ttA		Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 2, mRNA.							243	214	224					5																	170148874		2203	4300	6503	SO:0001583	missense	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170148874C>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"EF-hand domain containing"	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.327C>A	5.37:g.170148874C>A	ENSP00000395323:p.Phe109Leu		Somatic				KCNIP1_uc003map.3_Missense_Mutation_p.F107L|KCNIP1_uc003mas.3_Missense_Mutation_p.F109L|KCNIP1_uc003mat.3_Missense_Mutation_p.F98L|KCNIP1_uc010jjp.3_Missense_Mutation_p.F70L	p.F123L	NM_014592	NP_055407	WXS	Illumina GAIIx	Phase_I	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	898	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	109			EF-hand 2.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.369C>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887209	0.72410	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.80393	0.08;0.08;0.08;0.08;-1.37;0.08	5.5	0.0795	0.14416	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.63208	1.945	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;D	0.81914	0.993;0.995;0.913;0.913	T	0.80977	-0.1141	9	.	.	.	.	9.0138	0.36157	0.0:0.4642:0.0:0.5358	.	123;98;109;107	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	L	107;98;98;70;123;109	ENSP00000366577:F107L;ENSP00000329686:F98L;ENSP00000375071:F98L;ENSP00000431102:F70L;ENSP00000414886:F123L;ENSP00000395323:F109L	.	F	+	3	2	KCNIP1	170081452	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	0.221000	0.17680	0.041000	0.15688	-0.140000	0.14226	TTC		0.547	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			9	125	0	0	0	1	0	9	125					A	170148874	C	A	170148874	3	1	56	1	0	0	0	0	1	0	0	0	8039	883	31	4	437	4	KCNIP1	5	170148874	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08	37613815	170148874	10766386	4	1060											
C9orf47	286223	broad.mit.edu	37	9	91606052	91606052	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:91606052C>G	ENST00000334490.5	+	1	210	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	S1PR3_ENST00000358157.2_5'Flank|C9orf47_ENST00000375851.2_Missense_Mutation_p.L48V|C9orf47_ENST00000375850.3_Missense_Mutation_p.L48V			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	48						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCGCTGGGTCTCTGGGCGCC	0.672																																						uc004aqd.3																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(142-144)Ctc>Gtc		Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.							14	17	16					9																	91606052		2202	4299	6501	SO:0001583	missense	286223					extracellular region		g.chr9:91606052C>G	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 108"	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.142C>G	9.37:g.91606052C>G	ENSP00000335616:p.Leu48Val		Somatic				S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.L48V	p.L48V	NM_001001938	NP_001001938	WXS	Illumina GAIIx	Phase_I	Q6ZRZ4	CI047_HUMAN			0	275	+			48					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.142C>G	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181505	0.21787	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.48	-0.716	0.11212	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.24155	0.051;0.051	T	0.21280	-1.0250	8	0.87932	D	0	.	3.3368	0.07103	0.0:0.5068:0.2191:0.2742	.	48;48	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	V	48	.	ENSP00000335616:L48V	L	+	1	0	C9orf47	90795872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.079000	0.11357	-0.153000	0.11137	0.486000	0.48141	CTC		0.672	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		5	10	0	0	0	1	0	5	10					G	91606052	C	G	91606052	3	3	56	1	0	0	0	0	1	0	0	0	2485	913	32	4	144	4	C9orf47	9	91606052	Missense_Mutation	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		91606052	49607379	5	1061											
OR13C8	138802	broad.mit.edu	37	9	107331756	107331756	+	Missense_Mutation	SNP	T	T	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:107331756T>A	ENST00000335040.1	+	1	308	c.308T>A	c.(307-309)aTt>aAt	p.I103N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	103						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)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAAATGTTTATTTCTTTTGCC	0.488																																						uc011lvo.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(307-309)aTt>aAt		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							121	115	117					9																	107331756		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331756T>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.308T>A	9.37:g.107331756T>A	ENSP00000334068:p.Ile103Asn		Somatic					p.I103N	NM_001004483	NP_001004483	WXS	Illumina GAIIx	Phase_I	Q8NGS7	O13C8_HUMAN			0	308	+			103					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.308T>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018446	0.35606	.	.	ENSG00000186943	ENST00000335040	T	0.01347	4.99	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.622240	0.14048	N	0.344982	T	0.03564	0.0102	M	0.79123	2.44	0.27924	N	0.938123	P	0.41080	0.737	B	0.39590	0.304	T	0.12243	-1.0555	10	0.87932	D	0	.	13.301	0.60326	0.0:0.0:0.0:1.0	.	103	Q8NGS7	O13C8_HUMAN	N	103	ENSP00000334068:I103N	ENSP00000334068:I103N	I	+	2	0	OR13C8	106371577	0.010000	0.17322	0.998000	0.56505	0.272000	0.26649	1.777000	0.38604	2.299000	0.77371	0.533000	0.62120	ATT		0.488	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			6	107	0	0	0	1	0	6	107					A	107331756	T	A	107331756	3	1	56	1	0	0	0	0	1	0	0	0	10938	1493	52	5	310	5	OR13C8	9	107331756	Missense_Mutation	SNP	T	TCGA-DE-A4M9-01A-11D-A257-08	15725704	107331756	33881675	6	1062											
KRT85	3891	broad.mit.edu	37	12	52758885	52758885	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr12:52758885A>G	ENST00000257901.3	-	2	565	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	164	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCTCGCAGCAGCGCTGG	0.612																																						uc001sag.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(490-492)Tgc>Cgc		Homo sapiens keratin 85 (KRT85), mRNA.							55	56	56					12																	52758885		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758885A>G	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.490T>C	12.37:g.52758885A>G	ENSP00000257901:p.Cys164Arg		Somatic					p.C164R	NM_002283	NP_002274	WXS	Illumina GAIIx	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	610	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		164			Linker 1.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.490T>C	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623967	0.46840	.	.	ENSG00000135443	ENST00000257901	T	0.74737	-0.87	4.51	4.51	0.55191	Filament (1);	0.000000	0.64402	D	0.000004	T	0.75693	0.3884	L	0.41824	1.3	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.76937	-0.2774	10	0.87932	D	0	.	5.127	0.14890	0.625:0.1502:0.0:0.2248	.	164	P78386	KRT85_HUMAN	R	164	ENSP00000257901:C164R	ENSP00000257901:C164R	C	-	1	0	KRT85	51045152	0.000000	0.05858	0.988000	0.46212	0.553000	0.35397	0.203000	0.17315	1.892000	0.54788	0.402000	0.26972	TGC		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		11	71	0	0	0	1	0	11	71					G	52758885	A	G	52758885	3	3	56	1	0	0	0	0	1	0	0	0	8499	188	7	3	1065	3	KRT85	12	52758885	Missense_Mutation	SNP	A	TCGA-DE-A4M9-01A-11D-A257-08		52758885	81093010	7	1063											
CACNA1G	8913	broad.mit.edu	37	17	48696019	48696019	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr17:48696019A>G	ENST00000359106.5	+	33	5431	c.5431A>G	c.(5431-5433)Acc>Gcc	p.T1811A	CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1786A|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1811A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1759A|CACNA1G_ENST00000352832.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1818A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1770A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1788A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1766A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1804A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1793A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1788A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1793A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1754A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1777A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1766A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1811					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCAGGACACCCTCCGGGA	0.562																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5431-5433)Acc>Gcc		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						39	38	38					17																	48696019		2074	4194	6268	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696019A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5431A>G	17.37:g.48696019A>G	ENSP00000352011:p.Thr1811Ala		Somatic				CACNA1G_uc002irj.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irl.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irm.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irn.1_Missense_Mutation_p.T1770A|CACNA1G_uc002iro.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irp.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irq.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irr.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irs.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irt.1_Missense_Mutation_p.T1793A|CACNA1G_uc002iru.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irv.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irw.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irx.1_Missense_Mutation_p.T1724A|CACNA1G_uc002iry.1_Missense_Mutation_p.T1713A|CACNA1G_uc002isg.1_Missense_Mutation_p.T1672A|CACNA1G_uc002ish.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isi.1_Missense_Mutation_p.T1667A|CACNA1G_uc002irz.1_Missense_Mutation_p.T1717A|CACNA1G_uc002isa.1_Missense_Mutation_p.T1690A|CACNA1G_uc002isd.1_Missense_Mutation_p.T1699A|CACNA1G_uc002isb.1_Missense_Mutation_p.T1731A|CACNA1G_uc002isc.1_Missense_Mutation_p.T1713A|CACNA1G_uc002ise.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isf.1_Missense_Mutation_p.T1706A	p.T1811A	NM_018896	NP_061496	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		32	5803	+	Breast(11;6.7e-17)		1811					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5431A>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	17.97	3.518874	0.64634	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	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	0.98192	-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78	4.88	3.77	0.43336	Ion transport (1);	0.288717	0.37761	N	0.001956	D	0.97312	0.9121	N	0.20401	0.57	0.51767	D	0.999939	B;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	0.256;1.0;0.996;0.99;0.999;0.998;0.995;0.999;0.995;1.0;0.999;0.984;1.0;0.999;0.998;1.0;1.0;0.999;0.999;1.0;0.992;0.981;0.999;0.976;0.995	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.97110	0.437;1.0;0.996;0.996;0.999;0.996;0.994;0.999;0.994;0.999;0.998;0.943;0.998;0.998;0.996;0.996;0.992;0.978;0.999;0.999;0.987;0.939;0.998;0.95;0.894	D	0.96751	0.9554	10	0.62326	D	0.03	.	10.7382	0.46137	0.8572:0.0:0.0:0.1428	.	1754;1766;1759;1793;1766;1786;1818;1777;1804;1800;1811;1788;1800;1800;1793;1800;1811;1788;1811;1777;1770;1777;1788;1811;1777	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	A	1788;1777;1777;1770;1788;1800;1766;1754;1759;1777;1811;1800;1766;1804;1777;1811;1786;1800;1818;1777;1811;1793;1793;1811;1800	ENSP00000353990:T1788A;ENSP00000339302:T1777A;ENSP00000347078:T1777A;ENSP00000409759:T1770A;ENSP00000425522:T1788A;ENSP00000426261:T1800A;ENSP00000425451:T1766A;ENSP00000422407:T1754A;ENSP00000426814:T1759A;ENSP00000427238:T1777A;ENSP00000423112:T1811A;ENSP00000420918:T1800A;ENSP00000426172:T1766A;ENSP00000423045:T1804A;ENSP00000427173:T1777A;ENSP00000426098:T1811A;ENSP00000425698:T1786A;ENSP00000426232:T1800A;ENSP00000423317:T1818A;ENSP00000350979:T1777A;ENSP00000352011:T1811A;ENSP00000414388:T1793A;ENSP00000423155:T1793A;ENSP00000422268:T1811A;ENSP00000421518:T1800A	ENSP00000339302:T1777A	T	+	1	0	CACNA1G	46051018	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.372000	0.79612	0.670000	0.31165	0.441000	0.28932	ACC		0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	18	0	0	0	1	0	4	18					G	48696019	A	G	48696019	3	3	56	1	0	0	0	0	1	0	0	0	2544	159	6	3	5828	3	CACNA1G	17	48696019	Missense_Mutation	SNP	A	TCGA-DE-A4M9-01A-11D-A257-08		48696019	32499191	8	1064											
CDH7	1005	broad.mit.edu	37	18	63491897	63491897	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr18:63491897G>A	ENST00000397968.2	+	6	1237	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	CDH7_ENST00000323011.3_Missense_Mutation_p.V271I|CDH7_ENST00000536984.2_Missense_Mutation_p.V271I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	271	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)				TCAATATAACGTCCCAGAGTC	0.373																																						uc002ljz.3																			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.(811-813)Gtc>Atc		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA.							109	102	104					18																	63491897		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.chr18:63491897G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.811G>A	18.37:g.63491897G>A	ENSP00000381058:p.Val271Ile		Somatic				CDH7_uc002lka.3_Missense_Mutation_p.V271I|CDH7_uc002lkb.3_Missense_Mutation_p.V271I	p.V271I	NM_033646	NP_387450	WXS	Illumina GAIIx	Phase_I	Q9ULB5	CADH7_HUMAN			5	1136	+		Esophageal squamous(42;0.129)	271			Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.811G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810679	0.50421	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53857	0.6;0.6;0.6	4.65	4.65	0.58169	Cadherin (4);Cadherin-like (1);	0.148280	0.42548	D	0.000698	T	0.48409	0.1498	L	0.60012	1.86	0.80722	D	1	B;P	0.36199	0.111;0.543	B;B	0.29524	0.023;0.103	T	0.52909	-0.8512	10	0.38643	T	0.18	.	17.9028	0.88910	0.0:0.0:1.0:0.0	.	271;271	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	271	ENSP00000319166:V271I;ENSP00000443030:V271I;ENSP00000381058:V271I	ENSP00000319166:V271I	V	+	1	0	CDH7	61642877	1.000000	0.71417	0.947000	0.38551	0.891000	0.51852	9.256000	0.95535	2.291000	0.77112	0.637000	0.83480	GTC		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	52	0	0	0	1	0	8	52					A	63491897	G	A	63491897	3	1	56	1	0	0	0	0	1	0	0	0	3115	1145	40	1	829	1	CDH7	18	63491897	Missense_Mutation	SNP	G	TCGA-DE-A4M9-01A-11D-A257-08		63491897	14585351	9	1065											
EIF3L	51386	broad.mit.edu	37	22	38251572	38251572	+	Splice_Site	SNP	C	C	T	rs143207366		TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr22:38251572C>T	ENST00000412331.2	+	4	876	c.294C>T	c.(292-294)agC>agT	p.S98S	EIF3L_ENST00000381683.6_Splice_Site_p.S98S|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATTTTTAGCTGGACCAAGC	0.428																																						uc003auf.3																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e4-1		Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	63	62	62		294,294	3.0	1.0	22	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	EIF3L	NM_001242923.1,NM_016091.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	98/517,98/565	38251572	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38251572C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.294-1C>T	22.37:g.38251572C>T			Somatic				EIF3L_uc011ann.2_Splice_Site_p.S98_splice|EIF3L_uc003aug.3_Intron	p.S98_splice	NM_016091	NP_057175	WXS	Illumina GAIIx	Phase_I	Q9Y262	EIF3L_HUMAN			4	372	+			98						Splice_Site	SNP	ENST00000412331.2	37	c.294_splice	CCDS13960.1																																																																																				0.428	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Silent	3	30	0	0	0	1	0	3	30					T	38251572	C	T	38251572	5	4	56	1	0	0	0	0	0	0	1	0	5022	811	28	2	308	2	EIF3L	22	38251572	Splice_Site	SNP	C	TCGA-DE-A4M9-01A-11D-A257-08		38251572	13052994	10	1066											
CTSS	1520	broad.mit.edu	37	1	150727538	150727538	+	Missense_Mutation	SNP	C	C	T	rs140031053		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr1:150727538C>T	ENST00000368985.3	-	4	598	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	113			R -> W (in dbSNP:rs2230061). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R113L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCAATATCCGATTAGGGTT	0.433													c|||	1	0.000199681	0	0	5008	,	,		20302	0.001		0	False		,,,				2504	0					uc001evn.3																			1	Substitution - Missense(1)	p.R113L(2)|p.R113W(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(337-339)cGg>cAg		Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.							215	207	210					1																	150727538		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727538C>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"Cathepsins"	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.338G>A	1.37:g.150727538C>T	ENSP00000357981:p.Arg113Gln		Somatic				CTSS_uc010pcj.2_Intron	p.R113Q	NM_004079	NP_004070	WXS	Illumina GAIIx	Phase_I	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	599	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		113		R -> W (in dbSNP:rs2230061).			B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.338G>A	CCDS968.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	c	0.729	-0.780487	0.02929	.	.	ENSG00000163131	ENST00000368985	T	0.21361	2.01	5.47	1.56	0.23342	.	3.731250	0.00357	N	0.000022	T	0.02571	0.0078	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30179	-0.9987	10	0.25106	T	0.35	.	4.81	0.13339	0.1378:0.2007:0.0:0.6615	.	113	P25774	CATS_HUMAN	Q	113	ENSP00000357981:R113Q	ENSP00000357981:R113Q	R	-	2	0	CTSS	148994162	0.002000	0.14202	0.009000	0.14445	0.233000	0.25261	0.169000	0.16641	0.016000	0.14998	-1.158000	0.01797	CGG		0.433	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		20	215	0	0	0	1	0	20	215					T	150727538	C	T	150727538	3	4	57	1	0	0	0	0	1	0	0	0	4041	652	23	1	677	1	CTSS	1	150727538	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		150727538	98523083	1	1067											
STAM2	10254	broad.mit.edu	37	2	153003678	153003678	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr2:153003678G>C	ENST00000263904.4	-	5	794	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	149					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTCTCACCTGAGAACCTGCT	0.363																																						uc002tyc.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(445-447)Cag>Gag		Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.							102	107	105					2																	153003678		2203	4300	6503	SO:0001583	missense	10254				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	protein binding	g.chr2:153003678G>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.445C>G	2.37:g.153003678G>C	ENSP00000263904:p.Gln149Glu		Somatic				STAM2_uc010foa.1_Missense_Mutation_p.Q149E|STAM2_uc002tyd.3_Missense_Mutation_p.Q149E	p.Q149E	NM_005843	NP_005834	WXS	Illumina GAIIx	Phase_I	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	4	795	-			149					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.445C>G	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572784	0.86542	.	.	ENSG00000115145	ENST00000263904	T	0.16897	2.31	5.42	5.42	0.78866	Src homology-3 domain (1);	1.362050	0.04956	N	0.461277	T	0.23766	0.0575	L	0.49513	1.565	0.80722	D	1	B;B	0.29085	0.152;0.232	B;B	0.32289	0.143;0.042	T	0.48779	-0.9005	10	0.07175	T	0.84	-7.9109	19.2062	0.93730	0.0:0.0:1.0:0.0	.	149;149	O75886-2;O75886	.;STAM2_HUMAN	E	149	ENSP00000263904:Q149E	ENSP00000263904:Q149E	Q	-	1	0	STAM2	152711924	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.813000	0.99286	2.533000	0.85409	0.655000	0.94253	CAG		0.363	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		8	122	0	0	0	1	0	8	122					C	153003678	G	C	153003678	3	2	57	1	0	0	0	0	1	0	0	0	15248	1299	45	4	1172	4	STAM2	2	153003678	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		153003678	90195695	2	1068											
C3orf58	205428	broad.mit.edu	37	3	143691563	143691563	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:143691563C>G	ENST00000315691.3	+	1	924	c.389C>G	c.(388-390)aCc>aGc	p.T130S	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	130					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGCGGGCCACCGGCCGGCCC	0.766																																						uc003evo.3																			0		p.T130P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(388-390)aCc>aGc		Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.							6	7	7					3																	143691563		1808	3700	5508	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143691563C>G	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.389C>G	3.37:g.143691563C>G	ENSP00000320081:p.Thr130Ser		Somatic				C3orf58_uc011bnl.2_5'Flank	p.T130S	NM_173552	NP_775823	WXS	Illumina GAIIx	Phase_I	Q8NDZ4	CC058_HUMAN			0	924	+			130					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.389C>G	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	9.919	1.211648	0.22289	.	.	ENSG00000181744	ENST00000315691	T	0.27720	1.65	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05649	-1.0872	10	0.06625	T	0.88	.	16.0803	0.81001	0.0:1.0:0.0:0.0	.	130	Q8NDZ4	CC058_HUMAN	S	130	ENSP00000320081:T130S	ENSP00000320081:T130S	T	+	2	0	C3orf58	145174253	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.028000	0.57246	2.027000	0.59764	0.561000	0.74099	ACC		0.766	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		3	11	0	0	0	1	0	3	11					G	143691563	C	G	143691563	3	3	57	1	0	0	0	0	1	0	0	0	2236	507	18	4	391	4	C3orf58	3	143691563	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		143691563	54330867	3	1069											
DVL3	1857	broad.mit.edu	37	3	183882940	183882940	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr3:183882940G>A	ENST00000313143.3	+	6	887	c.639G>A	c.(637-639)ctG>ctA	p.L213L	DVL3_ENST00000431765.1_Silent_p.L213L|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	213					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTCACGCCTGATGAGAAGAC	0.642																																						uc003fms.3																			0		p.R212C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(637-639)ctG>ctA		Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.							55	63	60					3																	183882940		2203	4300	6503	SO:0001819	synonymous_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183882940G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.639G>A	3.37:g.183882940G>A			Somatic				DVL3_uc011bqw.2_Silent_p.L213L|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_Silent_p.L45L	p.L213L	NM_004423	NP_004414	WXS	Illumina GAIIx	Phase_I	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		5	779	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		213					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	c.639G>A	CCDS3253.1																																																																																				0.642	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		5	59	0	0	0	1	0	5	59					A	183882940	G	A	183882940	2	1	57	1	0	0	0	0	0	0	0	1	4837	1277	45	2		2	DVL3	3	183882940	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	40191377	183882940	14139490	4	1070											
TBC1D9	23158	broad.mit.edu	37	4	141543797	141543797	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:141543797G>C	ENST00000442267.2	-	21	3427	c.3353C>G	c.(3352-3354)gCc>gGc	p.A1118G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1118							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTGTCGGGGGCCAGGCTGGC	0.657																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3352-3354)gCc>gGc		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							38	44	42					4																	141543797		1976	4143	6119	SO:0001583	missense	23158					intracellular	Rab GTPase activator activity|calcium ion binding	g.chr4:141543797G>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3353C>G	4.37:g.141543797G>C	ENSP00000411197:p.Ala1118Gly		Somatic					p.A1118G	NM_015130	NP_055945	WXS	Illumina GAIIx	Phase_I	Q6ZT07	TBCD9_HUMAN			20	3625	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1118					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3353C>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	1.041	-0.678968	0.03378	.	.	ENSG00000109436	ENST00000442267	T	0.08458	3.09	4.64	2.76	0.32466	.	.	.	.	.	T	0.06188	0.0160	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42241	-0.9463	9	0.17369	T	0.5	.	5.2918	0.15731	0.1364:0.4491:0.4146:0.0	.	1118	Q6ZT07	TBCD9_HUMAN	G	1118	ENSP00000411197:A1118G	ENSP00000411197:A1118G	A	-	2	0	TBC1D9	141763247	0.000000	0.05858	0.012000	0.15200	0.362000	0.29581	-0.028000	0.12350	0.925000	0.37094	0.655000	0.94253	GCC		0.657	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		12	41	0	0	0	1	0	12	41					C	141543797	G	C	141543797	3	2	57	1	0	0	0	0	1	0	0	0	15624	1203	42	4	451	4	TBC1D9	4	141543797	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		141543797	49610479	5	1071											
PRSS48	345062	broad.mit.edu	37	4	152203401	152203401	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr4:152203401C>A	ENST00000455694.2	+	3	319	c.317C>A	c.(316-318)cCc>cAc	p.P106H	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTCATCCATCCCAAGTACCAA	0.468																																						uc011cif.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(316-318)cCc>cAc		Homo sapiens protease, serine, 48 (PRSS48), mRNA.							285	268	273					4																	152203401		2055	4219	6274	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203401C>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"Serine peptidases / Serine peptidases"	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.317C>A	4.37:g.152203401C>A	ENSP00000401328:p.Pro106His		Somatic				PRSS48_uc011cig.2_Intron	p.P106H	NM_183375	NP_899231	WXS	Illumina GAIIx	Phase_I	Q7RTY5	PRS48_HUMAN			2	317	+			106			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.317C>A	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.925812|2.925812	0.52759|0.52759	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000455694|ENST00000530477	T|.	0.45276|.	0.9|.	3.59|3.59	1.81|1.81	0.25067|0.25067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.976038|0.976038	0.08329|0.08329	N|N	0.962553|0.962553	T|T	0.76758|0.76758	0.4032|0.4032	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.75484|.	0.986|.	T|T	0.72097|0.72097	-0.4393|-0.4393	10|7	0.72032|0.66056	D|D	0.01|0.02	.|.	7.9136|7.9136	0.29806|0.29806	0.1809:0.6439:0.1753:0.0|0.1809:0.6439:0.1753:0.0	.|.	106|.	Q7RTY5|.	PRS48_HUMAN|.	H|T	106|89	ENSP00000401328:P106H|.	ENSP00000401328:P106H|ENSP00000431197:P89T	P|P	+|+	2|1	0|0	PRSS48|PRSS48	152422851|152422851	0.173000|0.173000	0.23056|0.23056	0.078000|0.078000	0.20375|0.20375	0.103000|0.103000	0.19146|0.19146	2.858000|2.858000	0.48356|0.48356	0.480000|0.480000	0.27534|0.27534	0.467000|0.467000	0.42956|0.42956	CCC|CCA		0.468	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		10	190	0	0	0	1	0	10	190					A	152203401	C	A	152203401	3	1	57	1	0	0	0	0	1	0	0	0	12630	623	22	4	327	4	PRSS48	4	152203401	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	10659604	152203401	38950875	6	1072											
GFRA3	2676	broad.mit.edu	37	5	137595283	137595283	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr5:137595283C>G	ENST00000274721.3	-	3	681	c.435G>C	c.(433-435)tgG>tgC	p.W145C	GFRA3_ENST00000378362.3_Intron	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	145					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATTCATTTTCCAGGGTTTGC	0.557																																						uc003lcn.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12						c.(433-435)tgG>tgC		Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.							120	103	109					5																	137595283		2203	4300	6503	SO:0001583	missense	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137595283C>G	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.435G>C	5.37:g.137595283C>G	ENSP00000274721:p.Trp145Cys		Somatic				GFRA3_uc003lco.3_Intron	p.W145C	NM_001496	NP_001487	WXS	Illumina GAIIx	Phase_I	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	575	-			145					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	c.435G>C	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243948	0.58995	.	.	ENSG00000146013	ENST00000274721	T	0.30981	1.51	5.16	5.16	0.70880	.	0.096640	0.50627	D	0.000114	T	0.39708	0.1088	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	10	0.38643	T	0.18	-18.0174	14.5027	0.67732	0.0:1.0:0.0:0.0	.	145	O60609	GFRA3_HUMAN	C	145	ENSP00000274721:W145C	ENSP00000274721:W145C	W	-	3	0	GFRA3	137623182	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.958000	0.56737	2.581000	0.87130	0.561000	0.74099	TGG		0.557	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		14	74	0	0	0	1	0	14	74					G	137595283	C	G	137595283	3	3	57	1	0	0	0	0	1	0	0	0	6349	856	30	4	791	4	GFRA3	5	137595283	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		137595283	43319977	7	1073											
HIVEP1	3096	broad.mit.edu	37	6	12161971	12161971	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:12161971G>A	ENST00000379388.2	+	8	7119	c.6787G>A	c.(6787-6789)Gca>Aca	p.A2263T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A128T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2263					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTGAGCACAGCACAGTCTGA	0.552																																						uc003nac.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(6787-6789)Gca>Aca		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							86	89	88					6																	12161971		2140	4259	6399	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161971G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6787G>A	6.37:g.12161971G>A	ENSP00000368698:p.Ala2263Thr		Somatic				HIVEP1_uc011diq.2_Non-coding_Transcript	p.A2263T	NM_002114	NP_002105	WXS	Illumina GAIIx	Phase_I	P15822	ZEP1_HUMAN			7	6966	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2263					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6787G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783834	0.16189	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.30448	3.04;1.53	5.77	0.94	0.19513	.	0.846246	0.09627	N	0.776749	T	0.06462	0.0166	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.13853	T	0.58	-1.0332	6.5588	0.22476	0.2953:0.2095:0.4953:0.0	.	2263	P15822	ZEP1_HUMAN	T	2263;190;128;245	ENSP00000368698:A2263T;ENSP00000445617:A128T	ENSP00000368698:A2263T	A	+	1	0	HIVEP1	12269957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.061000	0.14366	-0.115000	0.11915	-0.137000	0.14449	GCA		0.552	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		3	70	0	0	0	1	0	3	70					A	12161971	G	A	12161971	3	1	57	1	0	0	0	0	1	0	0	0	7186	971	34	2	6813	2	HIVEP1	6	12161971	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		12161971	158953096	8	1074											
CUL9	23113	broad.mit.edu	37	6	43173160	43173160	+	Splice_Site	SNP	C	C	T	rs148718257	byFrequency	TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr6:43173160C>T	ENST00000252050.4	+	24	4876	c.4792C>T	c.(4792-4794)Cag>Tag	p.Q1598*	CUL9_ENST00000354495.3_Splice_Site_p.Q1488*|CUL9_ENST00000372647.2_Splice_Site_p.Q1598*	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1598					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACTTCTATCAGTGAGTGCA	0.517																																						uc003ouk.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.e24+1		Homo sapiens cullin 9 (CUL9), mRNA.							118	122	120					6																	43173160		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43173160C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4793+1C>T	6.37:g.43173160C>T			Somatic				CUL9_uc003oul.3_Splice_Site_p.Q1598_splice|CUL9_uc010jyk.3_Splice_Site_p.Q750_splice	p.Q1598_splice	NM_015089	NP_055904	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			24	4868	+			1598					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	SNP	ENST00000252050.4	37	c.4793_splice	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	43	10.450940	0.99407	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	.	.	.	5.64	5.64	0.86602	.	0.224693	0.43747	D	0.000531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.1622	13.7755	0.63050	0.2702:0.7297:0.0:0.0	.	.	.	.	X	1598;1488;1598	.	ENSP00000252050:Q1598X	Q	+	1	0	CUL9	43281138	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.761000	0.47589	2.655000	0.90218	0.561000	0.74099	CAG		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Nonsense_Mutation	14	141	0	0	0	1	0	14	141					T	43173160	C	T	43173160	5	4	57	1	0	0	0	0	0	0	1	0	4061	840	29	2	4882	2	CUL9	6	43173160	Splice_Site	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	31011189	43173160	127941907	9	1075											
STK31	56164	broad.mit.edu	37	7	23775294	23775294	+	Silent	SNP	A	A	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:23775294A>T	ENST00000355870.3	+	7	740	c.621A>T	c.(619-621)ggA>ggT	p.G207G	STK31_ENST00000433467.2_Silent_p.G207G|STK31_ENST00000354639.3_Silent_p.G184G|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.G184G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	207						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAGAAAGGATTTGCAGAGA	0.413																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(619-621)ggA>ggT		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							138	128	131					7																	23775294		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775294A>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.621A>T	7.37:g.23775294A>T			Somatic				STK31_uc003swt.4_Silent_p.G184G|STK31_uc011jze.2_Silent_p.G207G|STK31_uc010kuq.3_Silent_p.G184G	p.G207G	NM_031414	NP_116562	WXS	Illumina GAIIx	Phase_I	Q9BXU1	STK31_HUMAN			6	688	+			207					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.621A>T	CCDS5386.1																																																																																				0.413	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		27	71	0	0	0	1	0	27	71					T	23775294	A	T	23775294	2	4	57	1	0	0	0	0	0	0	0	1	15295	320	12	5		5	STK31	7	23775294	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08		23775294	135363369	10	1076											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	57	0	0	0	1	0	10	57					T	140453136	A	T	140453136	3	4	57	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	116677842	140453136	18685527	11	1077											
SGK223	157285	broad.mit.edu	37	8	8185788	8185788	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:8185788G>A	ENST00000520004.1	-	5	2768	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	SGK223_ENST00000330777.4_Missense_Mutation_p.S835F			Q86YV5	SG223_HUMAN		837							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGCTTGGGGGAGCCTTGGGT	0.607																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(2503-2505)tCc>tTc		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							107	117	114					8																	8185788		1959	4130	6089	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185788G>A																												ENST00000520004.1:c.2504C>T	8.37:g.8185788G>A	ENSP00000428054:p.Ser835Phe		Somatic					p.S835F	NM_001080826	NP_001074295	WXS	Illumina GAIIx	Phase_I	Q86YV5	SG223_HUMAN			3	2504	-			835					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2504C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095612	0.56075	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.60171	0.21;0.21	4.97	4.09	0.47781	.	0.202773	0.35207	N	0.003368	T	0.50820	0.1638	L	0.56769	1.78	0.26495	N	0.974867	P	0.46395	0.877	B	0.41723	0.365	T	0.54483	-0.8287	10	0.72032	D	0.01	.	7.0606	0.25123	0.0919:0.3407:0.5674:0.0	.	835	Q86YV5	SG223_HUMAN	F	835	ENSP00000330930:S835F;ENSP00000428054:S835F	ENSP00000330930:S835F	S	-	2	0	AC068353.1	8223198	.	.	0.996000	0.52242	0.948000	0.59901	.	.	1.440000	0.47531	0.563000	0.77884	TCC		0.607	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			35	132	0	0	0	1	0	35	132					A	8185788	G	A	8185788	3	1	57	1	0	0	0	0	1	0	0	0	14210	1174	41	2	1712	2	SGK223	8	8185788	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		8185788	138178234	12	1078											
PRKDC	5591	broad.mit.edu	37	8	48798637	48798638	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr8:48798637_48798638GC>AA	ENST00000314191.2	-	37	4696_4697	c.4640_4641GC>TT	c.(4639-4641)gGC>gTT	p.G1547V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G1547V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1548					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)	GGATGACGCTGCCCTGTGAGCT	0.495								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				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						c.(4639-4641)ggc>gTT	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.																																				SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798637_48798638GC>AA		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4640_4641delinsAA	8.37:g.48798637_48798638delinsAA	ENSP00000313420:p.Gly1547Val		Somatic				PRKDC_uc003xqj.3_Missense_Mutation_p.G1547V	p.G1547V	NM_006904	NP_008835	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			36	4697_4698	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1548					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	DNP	ENST00000314191.2	37	c.4640_4641GC>TT																																																																																					0.495	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		14	41	0	0	0	1	0	14	41					AA	48798638	GC	AA	48798637	3	1	57	1	0	0	0	0	1	0	0	0	12521	1306	46	2	7946	2	PRKDC	8	48798637	Missense_Mutation	DNP	GC	TCGA-DJ-A13L-01A-11D-A21Z-08	40612849	48798637	97565385	13	1079											
TYRP1	7306	broad.mit.edu	37	9	12695656	12695656	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:12695656C>T	ENST00000388918.5	+	3	656	c.527C>T	c.(526-528)aCg>aTg	p.T176M	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'Flank	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	176					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)		GATGGCAACACGCCACAATTT	0.448									Oculocutaneous Albinism																													uc003zkv.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(526-528)aCg>aTg		Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.							114	108	110					9																	12695656		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	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.chr9:12695656C>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.527C>T	9.37:g.12695656C>T	ENSP00000373570:p.Thr176Met		Somatic					p.T176M	NM_000550	NP_000541	WXS	Illumina GAIIx	Phase_I	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	2	705	+		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)	176					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.527C>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124942	0.56613	.	.	ENSG00000107165	ENST00000388918	D	0.84298	-1.83	5.5	4.61	0.57282	Uncharacterised domain, di-copper centre (2);	0.241758	0.47852	D	0.000218	D	0.92215	0.7531	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.93299	0.6675	10	0.66056	D	0.02	-18.6214	14.7357	0.69414	0.0:0.9299:0.0:0.0701	.	176	P17643	TYRP1_HUMAN	M	176	ENSP00000373570:T176M	ENSP00000373570:T176M	T	+	2	0	TYRP1	12685656	0.889000	0.30405	0.848000	0.33437	0.950000	0.60333	1.799000	0.38824	1.456000	0.47831	0.467000	0.42956	ACG		0.448	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		24	79	0	0	0	1	0	24	79					T	12695656	C	T	12695656	3	4	57	1	0	0	0	0	1	0	0	0	16813	536	19	1	533	1	TYRP1	9	12695656	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		12695656	128517775	14	1080											
DOLK	22845	broad.mit.edu	37	9	131709562	131709562	+	Silent	SNP	A	A	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr9:131709562A>G	ENST00000372586.3	-	1	336	c.21T>C	c.(19-21)tcT>tcC	p.S7S	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	7					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCGGGGCCGGAGATGGGCACT	0.667																																						uc004bwr.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(19-21)tcT>tcC		Homo sapiens dolichol kinase (DOLK), mRNA.																																				SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709562A>G	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.21T>C	9.37:g.131709562A>G			Somatic				NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	p.S7S	NM_014908	NP_055723	WXS	Illumina GAIIx	Phase_I	Q9UPQ8	DOLK_HUMAN			0	451	-			7					Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.21T>C	CCDS6915.1																																																																																				0.667	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		11	27	0	0	0	1	0	11	27					G	131709562	A	G	131709562	2	3	57	1	0	0	0	0	0	0	0	1	4703	291	11	3		3	DOLK	9	131709562	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	119013906	131709562	9503869	15	1081											
DUSP5	1847	broad.mit.edu	37	10	112262508	112262508	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr10:112262508C>G	ENST00000369583.3	+	2	693	c.409C>G	c.(409-411)Cct>Gct	p.P137A	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	137	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CTCGGAATATCCTGAGTGTTG	0.423																																						uc001kzd.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(409-411)Cct>Gct		Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.							122	117	119					10																	112262508		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112262508C>G	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.409C>G	10.37:g.112262508C>G	ENSP00000358596:p.Pro137Ala		Somatic					p.P137A	NM_004419	NP_004410	WXS	Illumina GAIIx	Phase_I	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	1	664	+		Breast(234;0.0848)	137			Rhodanese.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.409C>G	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227502	0.79576	.	.	ENSG00000138166	ENST00000369583	T	0.47869	0.83	6.02	6.02	0.97574	Rhodanese-like (4);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68326	-0.5438	10	0.59425	D	0.04	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	137	Q16690	DUS5_HUMAN	A	137	ENSP00000358596:P137A	ENSP00000358596:P137A	P	+	1	0	DUSP5	112252498	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.625000	0.67770	2.850000	0.98022	0.650000	0.86243	CCT		0.423	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		17	74	0	0	0	1	0	17	74					G	112262508	C	G	112262508	3	3	57	1	0	0	0	0	1	0	0	0	4828	855	30	4	415	4	DUSP5	10	112262508	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08		112262508	23272239	16	1082											
PHRF1	57661	broad.mit.edu	37	11	587445	587445	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:587445G>A	ENST00000264555.5	+	4	529	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	PHRF1_ENST00000416188.2_Missense_Mutation_p.C134Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.C130Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.C133Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	134					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						TGCCTGGACTGCATTGTCGAA	0.557																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(400-402)tGc>tAc		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							120	125	124					11																	587445		2112	4203	6315	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587445G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.401G>A	11.37:g.587445G>A	ENSP00000264555:p.Cys134Tyr		Somatic				PHRF1_uc010qwc.2_Missense_Mutation_p.C134Y|PHRF1_uc010qwd.2_Missense_Mutation_p.C133Y|PHRF1_uc010qwe.2_Missense_Mutation_p.C130Y	p.C134Y	NM_020901	NP_065952	WXS	Illumina GAIIx	Phase_I	Q9P1Y6	PHRF1_HUMAN			3	532	+			134					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.401G>A		.	.	.	.	.	.	.	.	.	.	G	19.60	3.858705	0.71834	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	4.08	4.08	0.47627	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.429595	0.17475	N	0.172927	D	0.99840	0.9927	H	0.97783	4.075	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;0.999;1.0	D	0.96881	0.9646	10	0.87932	D	0	-21.3491	15.206	0.73180	0.0:0.0:1.0:0.0	.	130;133;134;134	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	134;133;134;130	ENSP00000264555:C134Y;ENSP00000388589:C133Y;ENSP00000410626:C134Y;ENSP00000431870:C130Y	ENSP00000264555:C134Y	C	+	2	0	PHRF1	577445	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	9.168000	0.94781	2.100000	0.63781	0.561000	0.74099	TGC		0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	89	0	0	0	1	0	4	89					A	587445	G	A	587445	3	1	57	1	0	0	0	0	1	0	0	0	11861	1319	46	2	411	2	PHRF1	11	587445	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		587445	134419071	17	1083											
SPTY2D1	144108	broad.mit.edu	37	11	18633034	18633034	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:18633034C>T	ENST00000336349.5	-	5	2189	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	652										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTCTTTGCTTCTTCCTTCTGC	0.353																																						uc001moy.3																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1954-1956)Gaa>Aaa		Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.							227	202	211					11																	18633034		2198	4293	6491	SO:0001583	missense	144108							g.chr11:18633034C>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1954G>A	11.37:g.18633034C>T	ENSP00000337991:p.Glu652Lys		Somatic					p.E652K	NM_194285	NP_919261	WXS	Illumina GAIIx	Phase_I	Q68D10	SPT2_HUMAN			4	2170	-			652					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1954G>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625370	0.96671	.	.	ENSG00000179119	ENST00000336349	T	0.70516	-0.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.89625	0.3851	10	0.87932	D	0	-17.4427	19.6819	0.95967	0.0:1.0:0.0:0.0	.	652	Q68D10	SPT2_HUMAN	K	652	ENSP00000337991:E652K	ENSP00000337991:E652K	E	-	1	0	SPTY2D1	18589610	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.352000	0.79404	2.656000	0.90262	0.563000	0.77884	GAA		0.353	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		8	82	0	0	0	1	0	8	82					T	18633034	C	T	18633034	3	4	57	1	0	0	0	0	1	0	0	0	15125	922	32	2	111	2	SPTY2D1	11	18633034	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	18045589	18633034	116373482	18	1084											
OR4C11	219429	broad.mit.edu	37	11	55371297	55371297	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr11:55371297G>T	ENST00000302231.4	-	1	577	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGCAGGCAAGTTTCAACAAG	0.393																																						uc010rii.2																			0		p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(553-555)Ctt>Att		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.							84	69	75					11																	55371297		2177	4012	6189	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371297G>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.553C>A	11.37:g.55371297G>T	ENSP00000306651:p.Leu185Ile		Somatic					p.L185I	NM_001004700	NP_001004700	WXS	Illumina GAIIx	Phase_I	Q6IEV9	OR4CB_HUMAN			0	578	-			185					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.553C>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213082	0.58452	.	.	ENSG00000172188	ENST00000302231	T	0.00379	7.65	4.34	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001377	T	0.00608	0.0020	M	0.67953	2.075	0.22226	N	0.999278	D	0.89917	1.0	D	0.91635	0.999	T	0.49542	-0.8929	10	0.87932	D	0	.	4.5219	0.11962	0.275:0.0:0.5663:0.1587	.	185	Q6IEV9	OR4CB_HUMAN	I	185	ENSP00000306651:L185I	ENSP00000306651:L185I	L	-	1	0	OR4C11	55127873	0.966000	0.33281	0.999000	0.59377	0.995000	0.86356	1.622000	0.36997	0.581000	0.29539	0.478000	0.44815	CTT		0.393	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		18	77	0	0	0	1	0	18	77					T	55371297	G	T	55371297	3	4	57	1	0	0	0	0	1	0	0	0	11045	1029	36	4	381	4	OR4C11	11	55371297	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	36738263	55371297	79635219	19	1085											
KIF21A	55605	broad.mit.edu	37	12	39716485	39716485	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:39716485G>A	ENST00000361418.5	-	27	3671	c.3656C>T	c.(3655-3657)tCt>tTt	p.S1219F	KIF21A_ENST00000395670.3_Missense_Mutation_p.S1219F|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1199F|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1183F|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1206F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1219					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCCTATCTTAGAAGGTAAGCC	0.403																																						uc001rly.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3655-3657)tCt>tTt		Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.							113	104	107					12																	39716485		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716485G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3656C>T	12.37:g.39716485G>A	ENSP00000354878:p.Ser1219Phe		Somatic				KIF21A_uc001rlv.3_Missense_Mutation_p.S224F|KIF21A_uc001rlw.3_Missense_Mutation_p.S536F|KIF21A_uc001rlx.3_Missense_Mutation_p.S1206F|KIF21A_uc001rlz.3_Missense_Mutation_p.S1183F|KIF21A_uc010skl.2_Missense_Mutation_p.S1199F	p.S1219F	NM_001173464	NP_001166935	WXS	Illumina GAIIx	Phase_I	Q7Z4S6	KI21A_HUMAN			26	4076	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1219					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3656C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396889	0.83120	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.71461	-0.53;-0.52;0.27;-0.57;-0.43;-0.53	5.09	5.09	0.68999	.	0.245855	0.28977	N	0.013525	T	0.81230	0.4779	M	0.65498	2.005	0.58432	D	0.999998	P;P;P;P;P;D	0.55385	0.892;0.514;0.773;0.892;0.928;0.971	P;B;P;P;P;P	0.58660	0.598;0.33;0.466;0.518;0.698;0.843	T	0.83304	-0.0026	10	0.66056	D	0.02	.	18.5275	0.90978	0.0:0.0:1.0:0.0	.	1199;1183;1219;1206;1219;266	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	F	1206;1219;1219;266;260;1199;1219;1183	ENSP00000354851:S1206F;ENSP00000379029:S1219F;ENSP00000448792:S260F;ENSP00000445606:S1199F;ENSP00000354878:S1219F;ENSP00000438075:S1183F	ENSP00000344501:S1219F	S	-	2	0	KIF21A	38002752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.318000	0.79029	2.358000	0.79984	0.655000	0.94253	TCT		0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	84	0	0	0	1	0	8	84					A	39716485	G	A	39716485	3	1	57	1	0	0	0	0	1	0	0	0	8288	942	33	2	1416	2	KIF21A	12	39716485	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		39716485	94135410	20	1086											
TBX3	6926	broad.mit.edu	37	12	115120663	115120663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:115120663G>A	ENST00000257566.3	-	1	732	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	TBX3_ENST00000349155.2_Nonsense_Mutation_p.Q115*	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	115					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|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)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTGAAACTGATCCCAAAGT	0.572																																						uc001tvt.1																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(343-345)Cag>Tag		Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.							52	54	54					12																	115120663		2202	4300	6502	SO:0001587	stop_gained	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120663G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.343C>T	12.37:g.115120663G>A	ENSP00000257566:p.Gln115*		Somatic				TBX3_uc001tvu.1_Nonsense_Mutation_p.Q115*|TBX3_uc010syw.1_Nonsense_Mutation_p.Q115*	p.Q115*	NM_016569	NP_057653	WXS	Illumina GAIIx	Phase_I	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	0	1307	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		115					Q8TB20|Q9UKF8	Nonsense_Mutation	SNP	ENST00000257566.3	37	c.343C>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	47	13.060166	0.99716	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	.	.	.	5.48	5.48	0.80851	.	0.056069	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000257566:Q115X	Q	-	1	0	TBX3	113605046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.566000	0.86566	0.655000	0.94253	CAG		0.572	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		7	64	0	0	0	1	0	7	64					A	115120663	G	A	115120663	4	1	57	1	0	0	0	0	0	1	0	0	15656	1299	45	2	1920	2	TBX3	12	115120663	Nonsense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	75404178	115120663	18731232	21	1087											
POLE	5426	broad.mit.edu	37	12	133220461	133220461	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr12:133220461G>A	ENST00000320574.5	-	33	4295	c.4252C>T	c.(4252-4254)Ctg>Ttg	p.L1418L	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.L1391L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1418					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGCGCTGACAGCTCAGCGTTG	0.542								DNA polymerases (catalytic subunits)																														uc001uks.1																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4252-4254)Ctg>Ttg	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.							203	167	179					12																	133220461		2203	4300	6503	SO:0001819	synonymous_variant	5426				DNA synthesis involved in DNA repair|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|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220461G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4252C>T	12.37:g.133220461G>A			Somatic				POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.L222L|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.L1391L	p.L1418L	NM_006231	NP_006222	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	32	4296	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1418					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.4252C>T	CCDS9278.1																																																																																				0.542	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		3	41	0	0	0	1	0	3	41					A	133220461	G	A	133220461	2	1	57	1	0	0	0	0	0	0	0	1	12196	962	34	2		2	POLE	12	133220461	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	18099798	133220461	631434	22	1088											
PTGR2	145482	broad.mit.edu	37	14	74340912	74340912	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:74340912G>A	ENST00000555661.1	+	4	488	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.E115K|PTGR2_ENST00000555228.1_Missense_Mutation_p.E115K|PTGR2_ENST00000267568.4_Missense_Mutation_p.E115K|PTGR2_ENST00000553813.1_Intron			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	115					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AAATAGCCTTGAAAAGGTGAT	0.328																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	uc001xow.3																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(343-345)Gaa>Aaa		Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.							63	65	65					14																	74340912		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74340912G>A	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"zinc binding alcohol dehydrogenase domain containing 1"	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.343G>A	14.37:g.74340912G>A	ENSP00000452280:p.Glu115Lys		Somatic				PTGR2_uc010tue.2_Missense_Mutation_p.E115K|PTGR2_uc001xox.3_Missense_Mutation_p.E115K|ZNF410_uc001xoy.2_Non-coding_Transcript	p.E115K	NM_001146154	NP_689657	WXS	Illumina GAIIx	Phase_I	Q8N8N7	PTGR2_HUMAN			3	503	+			115					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.343G>A	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064908	0.36470	.	.	ENSG00000140043	ENST00000555228;ENST00000555661;ENST00000555976;ENST00000267568	T;T;T;T	0.43294	1.0;1.0;0.95;1.0	5.81	5.81	0.92471	GroES-like (1);	0.168811	0.52532	D	0.000062	T	0.35098	0.0920	L	0.35644	1.08	0.37343	D	0.910486	B	0.22480	0.07	B	0.21151	0.033	T	0.19647	-1.0299	10	0.29301	T	0.29	-10.824	15.4226	0.75025	0.0:0.2436:0.7564:0.0	.	115	Q8N8N7	PTGR2_HUMAN	K	115	ENSP00000450975:E115K;ENSP00000452280:E115K;ENSP00000450517:E115K;ENSP00000267568:E115K	ENSP00000267568:E115K	E	+	1	0	PTGR2	73410665	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.097000	0.57741	2.746000	0.94184	0.655000	0.94253	GAA		0.328	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			9	77	0	0	0	1	0	9	77					A	74340912	G	A	74340912	3	1	57	1	0	0	0	0	1	0	0	0	12754	1291	45	2	353	2	PTGR2	14	74340912	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		74340912	33008628	23	1089											
AHNAK2	113146	broad.mit.edu	37	14	105416999	105416999	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr14:105416999C>G	ENST00000333244.5	-	7	4908	c.4789G>C	c.(4789-4791)Gat>Cat	p.D1597H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1597						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTAACATCTATCTGGGGC	0.607																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4789-4791)Gat>Cat		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							107	119	115					14																	105416999		1803	4019	5822	SO:0001583	missense	113146					nucleus		g.chr14:105416999C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4789G>C	14.37:g.105416999C>G	ENSP00000353114:p.Asp1597His		Somatic				AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D1497H	p.D1597H	NM_138420	NP_612429	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	4909	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1597					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4789G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	7.019	0.558251	0.13436	.	.	ENSG00000185567	ENST00000333244	T	0.01981	4.52	2.4	2.4	0.29515	.	.	.	.	.	T	0.11024	0.0269	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.03374	-1.1043	9	0.54805	T	0.06	-15.948	11.3561	0.49617	0.0:0.797:0.203:0.0	.	1597	Q8IVF2	AHNK2_HUMAN	H	1597	ENSP00000353114:D1597H	ENSP00000353114:D1597H	D	-	1	0	AHNAK2	104488044	0.000000	0.05858	0.030000	0.17652	0.001000	0.01503	-0.246000	0.08878	1.672000	0.50884	0.485000	0.47835	GAT		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	89	0	0	0	1	0	7	89					G	105416999	C	G	105416999	3	3	57	1	0	0	0	0	1	0	0	0	415	913	32	4	12602	4	AHNAK2	14	105416999	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	31076087	105416999	1932541	24	1090											
C15orf63	25764	broad.mit.edu	37	15	44093955	44093955	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44093955G>A	ENST00000406925.1	+	5	4452	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERF2_ENST00000594896.1_Missense_Mutation_p.R160Q|SERINC4_ENST00000249714.3_5'Flank|SERINC4_ENST00000299969.6_5'Flank|SERF2_ENST00000600633.1_Missense_Mutation_p.R114Q|HYPK_ENST00000458412.1_3'UTR|HYPK_ENST00000442995.2_Missense_Mutation_p.R114Q|SERINC4_ENST00000319327.6_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		CGCAGTTTGCGGGAACACATG	0.428																																						uc001ztb.3																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(478-480)cGg>cAg		Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.							96	90	92					15																	44093955		2198	4298	6496	SO:0001583	missense	25764							g.chr15:44093955G>A	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.341G>A	15.37:g.44093955G>A	ENSP00000384474:p.Arg114Gln		Somatic				ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.R114Q|C15orf63_uc021skf.1_3'UTR|C15orf63_uc001ztg.1_3'UTR	p.R160Q	NM_016400	NP_057484	WXS	Illumina GAIIx	Phase_I	Q9NX55	HYPK_HUMAN			5	962	+			114					C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	ENST00000406925.1	37	c.479G>A	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618073	0.96649	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.60548	0.18;0.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.76170	2.325	0.80722	D	1	D	0.62365	0.991	P	0.45753	0.492	T	0.69591	-0.5104	10	0.51188	T	0.08	-16.0543	19.2408	0.93881	0.0:0.0:1.0:0.0	.	114	Q9NX55	HYPK_HUMAN	Q	114	ENSP00000384474:R114Q;ENSP00000401155:R114Q	ENSP00000384474:R114Q	R	+	2	0	C15orf63	41881247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	CGG		0.428	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		11	61	0	0	0	1	0	11	61					A	44093955	G	A	44093955	3	1	57	1	0	0	0	0	1	0	0	0	1809	1116	39	1	355	1	C15orf63	15	44093955	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		44093955	58437437	25	1091											
WDR76	79968	broad.mit.edu	37	15	44120432	44120432	+	Silent	SNP	A	A	G			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:44120432A>G	ENST00000263795.6	+	2	400	c.330A>G	c.(328-330)caA>caG	p.Q110Q	WDR76_ENST00000381246.2_Silent_p.Q46Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	110										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CCACGCTGCAAAATTCATCCT	0.408																																						uc001zti.2																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(328-330)caA>caG		Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.							88	87	87					15																	44120432		2198	4298	6496	SO:0001819	synonymous_variant	79968							g.chr15:44120432A>G	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.330A>G	15.37:g.44120432A>G			Somatic				WDR76_uc021skg.1_Silent_p.Q46Q	p.Q110Q	NM_024908	NP_001161413	WXS	Illumina GAIIx	Phase_I	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	1	449	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	110					A0MNP5|Q05CI4	Silent	SNP	ENST00000263795.6	37	c.330A>G	CCDS10106.1																																																																																				0.408	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		24	69	0	0	0	1	0	24	69					G	44120432	A	G	44120432	2	3	57	1	0	0	0	0	0	0	0	1	17323	11	1	3		3	WDR76	15	44120432	Silent	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	26477	44120432	58410960	26	1092											
SPATA5L1	79029	broad.mit.edu	37	15	45695663	45695663	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:45695663C>T	ENST00000305560.6	+	1	1135	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R346W	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	346						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGCCACTAACCGGCCGGACGC	0.682																																						uc001zve.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1036-1038)Cgg>Tgg		Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.							28	34	32					15																	45695663		2170	4254	6424	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695663C>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1036C>T	15.37:g.45695663C>T	ENSP00000305494:p.Arg346Trp		Somatic				BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript	p.R346W	NM_024063	NP_076968	WXS	Illumina GAIIx	Phase_I	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	0	1145	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	346					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.1036C>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464220	0.63513	.	.	ENSG00000171763	ENST00000305560	D	0.94457	-3.43	4.81	1.7	0.24286	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.066071	0.64402	D	0.000015	D	0.98108	0.9376	H	0.98238	4.18	0.36312	D	0.857738	D	0.89917	1.0	D	0.80764	0.994	D	0.99926	1.1283	10	0.87932	D	0	-25.4088	13.3947	0.60843	0.7076:0.2924:0.0:0.0	.	346	Q9BVQ7	SPA5L_HUMAN	W	346	ENSP00000305494:R346W	ENSP00000305494:R346W	R	+	1	2	SPATA5L1	43482955	0.997000	0.39634	0.998000	0.56505	0.709000	0.40893	1.484000	0.35508	0.165000	0.19558	-0.284000	0.09977	CGG		0.682	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		3	66	0	0	0	1	0	3	66					T	45695663	C	T	45695663	3	4	57	1	0	0	0	0	1	0	0	0	15011	643	23	1	1038	1	SPATA5L1	15	45695663	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	1575231	45695663	56835729	27	1093											
FBN1	2200	broad.mit.edu	37	15	48802244	48802244	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:48802244C>T	ENST00000316623.5	-	14	2166	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	571	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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)		TTATTACCTTCACAGTTCTTC	0.408																																						uc001zwx.2																			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	GRCh37	CM020134	FBN1	M		c.(1711-1713)Gaa>Aaa		Homo sapiens fibrillin 1 (FBN1), mRNA.							94	88	90					15																	48802244		2197	4296	6493	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.chr15:48802244C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1711G>A	15.37:g.48802244C>T	ENSP00000325527:p.Glu571Lys		Somatic					p.E571K	NM_000138	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	13	2106	-		all_lung(180;0.00279)	571			EGF-like 8; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1711G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473723	0.63737	.	.	ENSG00000166147	ENST00000316623	D	0.87650	-2.28	5.5	5.5	0.81552	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.052000	0.85682	D	0.000000	D	0.86226	0.5882	L	0.60957	1.885	0.80722	D	1	B	0.22003	0.063	B	0.22386	0.039	T	0.82446	-0.0453	10	0.49607	T	0.09	.	18.3167	0.90224	0.0:1.0:0.0:0.0	.	571	P35555	FBN1_HUMAN	K	571	ENSP00000325527:E571K	ENSP00000325527:E571K	E	-	1	0	FBN1	46589536	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.586000	0.46119	2.736000	0.93811	0.591000	0.81541	GAA		0.408	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	56	0	0	0	1	0	6	56					T	48802244	C	T	48802244	3	4	57	1	0	0	0	0	1	0	0	0	5702	835	29	2	7116	2	FBN1	15	48802244	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	3106581	48802244	53729148	28	1094											
SECISBP2L	9728	broad.mit.edu	37	15	49320810	49320810	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr15:49320810C>T	ENST00000559471.1	-	5	997	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G245D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	245							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCTTCTCCTGCCCTTGGACTT	0.473																																						uc001zxe.2																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(733-735)gGc>gAc		Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.							140	130	134					15																	49320810		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49320810C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.734G>A	15.37:g.49320810C>T	ENSP00000453854:p.Gly245Asp		Somatic				SECISBP2L_uc001zxd.2_Missense_Mutation_p.G245D|SECISBP2L_uc010bep.2_Missense_Mutation_p.G7D|SECISBP2L_uc010beq.2_Intron	p.G245D	NM_001193489	NP_001180418	WXS	Illumina GAIIx	Phase_I	Q93073	SBP2L_HUMAN			4	998	-			245					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.734G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644288	0.67244	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89123	-2.47	5.78	5.78	0.91487	.	0.278962	0.41500	D	0.000865	D	0.82728	0.5100	L	0.27053	0.805	0.32517	N	0.536809	P;P	0.50272	0.933;0.763	P;B	0.44860	0.462;0.361	D	0.83615	0.0136	10	0.25751	T	0.34	.	11.3197	0.49415	0.1412:0.7226:0.1362:0.0	.	245;245	Q93073;Q93073-2	SBP2L_HUMAN;.	D	245	ENSP00000261847:G245D	ENSP00000261847:G245D	G	-	2	0	SECISBP2L	47108102	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.838000	0.48199	2.732000	0.93576	0.655000	0.94253	GGC		0.473	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		7	93	0	0	0	1	0	7	93					T	49320810	C	T	49320810	3	4	57	1	0	0	0	0	1	0	0	0	14007	739	26	2	2488	2	SECISBP2L	15	49320810	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	518566	49320810	53210582	29	1095											
HSD3B7	80270	broad.mit.edu	37	16	30997755	30997755	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr16:30997755G>A	ENST00000297679.5	+	4	427	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_Missense_Mutation_p.V112M|HSD3B7_ENST00000353250.5_Missense_Mutation_p.V112M	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	112					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACCCGGAACGTGATCGAGGC	0.577																																						uc002eaf.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(334-336)Gtg>Atg		Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.							88	74	79					16																	30997755		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30997755G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.334G>A	16.37:g.30997755G>A	ENSP00000297679:p.Val112Met		Somatic				HSD3B7_uc010cac.2_Missense_Mutation_p.V112M|HSD3B7_uc002eag.2_Missense_Mutation_p.V112M|HSD3B7_uc002eah.2_Missense_Mutation_p.V112M	p.V112M	NM_025193	NP_079469	WXS	Illumina GAIIx	Phase_I	Q9H2F3	3BHS7_HUMAN			3	440	+			112					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.334G>A	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438738	0.83885	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.90133	-2.62;-2.62;-2.32	5.15	4.19	0.49359	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.122583	0.56097	D	0.000031	D	0.95987	0.8693	M	0.92833	3.35	0.48830	D	0.999714	D;D	0.89917	0.999;1.0	D;D	0.87578	0.969;0.998	D	0.96230	0.9167	10	0.72032	D	0.01	-20.882	12.2278	0.54470	0.0835:0.0:0.9165:0.0	.	112;112	Q96M28;Q9H2F3	.;3BHS7_HUMAN	M	112	ENSP00000262520:V112M;ENSP00000370662:V112M;ENSP00000297679:V112M	ENSP00000262520:V112M	V	+	1	0	HSD3B7	30905256	1.000000	0.71417	0.864000	0.33941	0.747000	0.42532	5.738000	0.68613	1.172000	0.42781	0.561000	0.74099	GTG		0.577	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			10	30	0	0	0	1	0	10	30					A	30997755	G	A	30997755	3	1	57	1	0	0	0	0	1	0	0	0	7392	1145	40	1	344	1	HSD3B7	16	30997755	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		30997755	59356998	30	1096											
WDR45L	56270	broad.mit.edu	37	17	80583323	80583323	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr17:80583323G>C	ENST00000392325.4	-	5	563	c.369C>G	c.(367-369)ttC>ttG	p.F123L	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	123																	GTGTGAATGTGAACACCTTAA	0.453																																						uc002kfq.3																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12						c.(367-369)ttC>ttG		Homo sapiens WDR45-like (WDR45L), mRNA.							147	122	130					17																	80583323		2203	4300	6503	SO:0001583	missense	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80583323G>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.369C>G	17.37:g.80583323G>C	ENSP00000376139:p.Phe123Leu		Somatic				WDR45L_uc002kfr.3_Non-coding_Transcript	p.F123L	NM_019613	NP_062559	WXS	Illumina GAIIx	Phase_I	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		4	564	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	123					O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.369C>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	-	20.4	3.991563	0.74703	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.54675	0.56	4.54	2.39	0.29439	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047892	0.85682	D	0.000000	T	0.47764	0.1463	M	0.79123	2.44	0.80722	D	1	P	0.36990	0.577	B	0.32864	0.154	T	0.52472	-0.8571	10	0.87932	D	0	-41.662	7.3009	0.26420	0.2699:0.0:0.7301:0.0	.	123	Q5MNZ6	WIPI3_HUMAN	L	123;95	ENSP00000376139:F123L	ENSP00000376139:F123L	F	-	3	2	WDR45L	78176612	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.659000	0.24994	0.878000	0.35920	0.552000	0.68991	TTC		0.453	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		6	62	0	0	0	1	0	6	62					C	80583323	G	C	80583323	3	2	57	1	0	0	0	0	1	0	0	0	17295	1281	45	4	689	4	WDR45L	17	80583323	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		80583323	611887	31	1097											
OR7A5	26659	broad.mit.edu	37	19	14938639	14938639	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:14938639G>T	ENST00000322301.3	-	2	502	c.415C>A	c.(415-417)Cac>Aac	p.H139N	OR7A5_ENST00000594432.1_Missense_Mutation_p.H139N|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	139					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)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCACAGAGGTGAGGGTTCATA	0.498																																						uc010xoa.2																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(415-417)Cac>Aac		Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.							81	75	77					19																	14938639		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938639G>T	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.415C>A	19.37:g.14938639G>T	ENSP00000316955:p.His139Asn		Somatic				OR7A5_uc002mzw.3_Missense_Mutation_p.H139N	p.H139N	NM_017506	NP_059976	WXS	Illumina GAIIx	Phase_I	Q15622	OR7A5_HUMAN			1	503	-			139					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.415C>A	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	9.330	1.060394	0.19987	.	.	ENSG00000188269	ENST00000322301	T	0.01068	5.38	3.13	-4.78	0.03209	GPCR, rhodopsin-like superfamily (1);	0.877251	0.09040	U	0.857423	T	0.00666	0.0022	N	0.11870	0.19	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.48990	-0.8985	10	0.62326	D	0.03	.	0.7771	0.01034	0.2124:0.1424:0.2136:0.4316	.	139	Q15622	OR7A5_HUMAN	N	139	ENSP00000316955:H139N	ENSP00000316955:H139N	H	-	1	0	OR7A5	14799639	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-2.572000	0.00912	-0.447000	0.07138	0.134000	0.15878	CAC		0.498	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		11	54	0	0	0	1	0	11	54					T	14938639	G	T	14938639	3	4	57	1	0	0	0	0	1	0	0	0	11216	1290	45	4	548	4	OR7A5	19	14938639	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		14938639	44190344	32	1098											
RYR1	6261	broad.mit.edu	37	19	38958277	38958277	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:38958277A>T	ENST00000359596.3	+	25	3206	c.3206A>T	c.(3205-3207)gAc>gTc	p.D1069V	RYR1_ENST00000355481.4_Missense_Mutation_p.D1069V|RYR1_ENST00000360985.3_Missense_Mutation_p.D1069V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1069	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	TCTCGTTGTGACCGGGTGCGC	0.557																																						uc002oit.3																			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.(3205-3207)gAc>gTc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						101	96	97					19																	38958277		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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.chr19:38958277A>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3206A>T	19.37:g.38958277A>T	ENSP00000352608:p.Asp1069Val		Somatic				RYR1_uc002oiu.3_Missense_Mutation_p.D1069V	p.D1069V	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3336	+	all_cancers(60;7.91e-06)		1069			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3206A>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	a	8.871	0.949270	0.18356	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96913	-4.17;-4.17;-4.17	2.92	2.92	0.33932	B30.2/SPRY domain (1);	0.080781	0.45606	U	0.000349	D	0.96430	0.8835	L	0.45698	1.435	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.70227	0.961;0.968	D	0.95703	0.8751	10	0.54805	T	0.06	.	10.858	0.46810	1.0:0.0:0.0:0.0	.	1069;1069	P21817-2;P21817	.;RYR1_HUMAN	V	1069	ENSP00000352608:D1069V;ENSP00000347667:D1069V;ENSP00000354254:D1069V	ENSP00000347667:D1069V	D	+	2	0	RYR1	43650117	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	4.125000	0.57931	1.600000	0.50102	0.130000	0.15844	GAC		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			23	109	0	0	0	1	0	23	109					T	38958277	A	T	38958277	3	4	57	1	0	0	0	0	1	0	0	0	13768	275	10	5	3304	5	RYR1	19	38958277	Missense_Mutation	SNP	A	TCGA-DJ-A13L-01A-11D-A21Z-08	24019638	38958277	20170706	33	1099											
CACNG7	59284	broad.mit.edu	37	19	54418665	54418665	+	Silent	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr19:54418665C>T	ENST00000391767.1	+	4	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CACNG7_ENST00000222212.2_Silent_p.L110L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L110L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	110					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTCTTCCTCGTGTTCACGG	0.607																																						uc002qcr.2																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(328-330)ctC>ctT		Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.							105	88	94					19																	54418665		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418665C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.330C>T	19.37:g.54418665C>T			Somatic				CACNG7_uc010era.2_Silent_p.L110L	p.L110L	NM_031896	NP_114102	WXS	Illumina GAIIx	Phase_I	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	2	425	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		110					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.330C>T	CCDS12868.1																																																																																				0.607	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			7	81	0	0	0	1	0	7	81					T	54418665	C	T	54418665	2	4	57	1	0	0	0	0	0	0	0	1	2562	871	31	1		1	CACNG7	19	54418665	Silent	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	15460388	54418665	4710318	34	1100											
FERMT1	55612	broad.mit.edu	37	20	6068514	6068514	+	Silent	SNP	G	G	A			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:6068514G>A	ENST00000217289.4	-	11	2069	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	FERMT1_ENST00000536936.1_Silent_p.P170P|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	427	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CATTTACATCGGGCACAACTT	0.383																																						uc002wmr.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1279-1281)ccC>ccT		Homo sapiens fermitin family member 1 (FERMT1), mRNA.							148	137	141					20																	6068514		2203	4300	6503	SO:0001819	synonymous_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6068514G>A	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1281C>T	20.37:g.6068514G>A			Somatic				FERMT1_uc002wmq.3_5'UTR|FERMT1_uc010gbt.3_Silent_p.P170P|FERMT1_uc002wms.3_Silent_p.P427P	p.P427P	NM_017671	NP_060141	WXS	Illumina GAIIx	Phase_I	Q9BQL6	FERM1_HUMAN			10	2070	-			427			FERM.|PH.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	ENST00000217289.4	37	c.1281C>T	CCDS13098.1																																																																																				0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		26	100	0	0	0	1	0	26	100					A	6068514	G	A	6068514	2	1	57	1	0	0	0	0	0	0	0	1	5817	1103	39	1		1	FERMT1	20	6068514	Silent	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		6068514	56957006	35	1101											
ANKRD5	63926	broad.mit.edu	37	20	10025162	10025162	+	Missense_Mutation	SNP	C	C	G	rs199742800		TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:10025162C>G	ENST00000378380.3	+	4	996	c.667C>G	c.(667-669)Cat>Gat	p.H223D	ANKEF1_ENST00000378392.1_Missense_Mutation_p.H223D|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	223							calcium ion binding (GO:0005509)										TCACGCTGCTCATTTTGCTGC	0.368																																						uc002wno.3																			0				breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(667-669)Cat>Gat		Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.							205	187	193					20																	10025162		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10025162C>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.667C>G	20.37:g.10025162C>G	ENSP00000367631:p.His223Asp		Somatic				LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.H223D|ANKRD5_uc010gbz.3_Missense_Mutation_p.H34D	p.H223D	NM_022096	NP_942093	WXS	Illumina GAIIx	Phase_I	Q9NU02	ANKR5_HUMAN			4	1060	+			223					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.667C>G	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230091	0.79688	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.71341	-0.56;-0.56	5.34	5.34	0.76211	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89642	0.3863	10	0.72032	D	0.01	-2.3547	19.4188	0.94712	0.0:1.0:0.0:0.0	.	223	Q9NU02	ANKR5_HUMAN	D	223	ENSP00000367644:H223D;ENSP00000367631:H223D	ENSP00000367631:H223D	H	+	1	0	ANKRD5	9973162	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.817000	0.75252	2.664000	0.90586	0.655000	0.94253	CAT		0.368	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		14	140	0	0	0	1	0	14	140					G	10025162	C	G	10025162	3	3	57	1	0	0	0	0	1	0	0	0	676	826	29	4	677	4	ANKRD5	20	10025162	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	3956648	10025162	53000358	36	1102											
EEF1A2	1917	broad.mit.edu	37	20	62121972	62121972	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr20:62121972C>T	ENST00000298049.7	-	5	959	c.889G>A	c.(889-891)Gag>Aag	p.E297K	EEF1A2_ENST00000217182.3_Missense_Mutation_p.E297K			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	297					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCAGAGCCTCGTGGTGCATC	0.627																																						uc002yfe.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(889-891)Gag>Aag		Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.							101	91	94					20																	62121972		2199	4294	6493	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62121972C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.889G>A	20.37:g.62121972C>T	ENSP00000298049:p.Glu297Lys		Somatic					p.E297K	NM_001958	NP_001949	WXS	Illumina GAIIx	Phase_I	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		5	1055	-	all_cancers(38;9.45e-12)		297					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.889G>A	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011074	0.93346	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.64085	-0.08;-0.08	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.315843	0.32563	N	0.005931	T	0.75679	0.3882	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	0.962;1.0	P;D	0.91635	0.893;0.999	T	0.79831	-0.1637	10	0.87932	D	0	-21.0665	16.0768	0.80974	0.0:1.0:0.0:0.0	.	273;297	Q59GP5;Q05639	.;EF1A2_HUMAN	K	297	ENSP00000298049:E297K;ENSP00000217182:E297K	ENSP00000217182:E297K	E	-	1	0	EEF1A2	61592416	1.000000	0.71417	0.986000	0.45419	0.832000	0.47134	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GAG		0.627	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		23	91	0	0	0	1	0	23	91					T	62121972	C	T	62121972	3	4	57	1	0	0	0	0	1	0	0	0	4924	893	31	1	514	1	EEF1A2	20	62121972	Missense_Mutation	SNP	C	TCGA-DJ-A13L-01A-11D-A21Z-08	52096810	62121972	903548	37	1103											
EIF4ENIF1	56478	broad.mit.edu	37	22	31851280	31851280	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:31851280G>C	ENST00000397525.1	-	9	1344	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S374C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S53C|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S374C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S211C	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	374						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGTCCAGGAGAGAGGATGGC	0.378																																						uc003akz.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1120-1122)tCt>tGt		Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.							69	68	68					22																	31851280		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31851280G>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1121C>G	22.37:g.31851280G>C	ENSP00000380659:p.Ser374Cys		Somatic				EIF4ENIF1_uc003akx.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.S53C|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.S374C|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.S211C	p.S374C	NM_001164501	NP_062817	WXS	Illumina GAIIx	Phase_I	Q9NRA8	4ET_HUMAN			8	1319	-			374					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1121C>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682474	0.88542	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.77864	-0.2429	9	0.62326	D	0.03	-17.1934	17.4871	0.87692	0.0:0.0:1.0:0.0	.	211;374;211;374	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	C	211;374;374;374;53;374	.	ENSP00000328103:S374C	S	-	2	0	EIF4ENIF1	30181280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.615000	0.90920	2.797000	0.96272	0.655000	0.94253	TCT		0.378	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		6	46	0	0	0	1	0	6	46					C	31851280	G	C	31851280	3	2	57	1	0	0	0	0	1	0	0	0	5035	942	33	4	1883	4	EIF4ENIF1	22	31851280	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08		31851280	19453286	38	1104											
SBF1	6305	broad.mit.edu	37	22	50894771	50894771	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13L-01A-11D-A21Z-08	TCGA-DJ-A13L-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1924d200-6929-4eef-8a7f-317f8fbab915	d2657b4b-d086-43dd-a2f5-0bd9c7d4e4ba	g.chr22:50894771G>C	ENST00000390679.3	-	30	4246	c.4062C>G	c.(4060-4062)ttC>ttG	p.F1354L	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.F1355L|SBF1_ENST00000380817.3_Missense_Mutation_p.F1380L			O95248	MTMR5_HUMAN	SET binding factor 1	1354	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				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)		GCCGTGCCTCGAATACCTCAA	0.617																																						uc003blh.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.(4138-4140)ttC>ttG		Homo sapiens SET binding factor 1 (SBF1), mRNA.							32	38	36					22																	50894771		2094	4204	6298	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50894771G>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4062C>G	22.37:g.50894771G>C	ENSP00000375097:p.Phe1354Leu		Somatic				SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.F1018L	p.F1380L	NM_002972	NP_002963	WXS	Illumina GAIIx	Phase_I	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	30	4335	-		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)	1354			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4140C>G		.	.	.	.	.	.	.	.	.	.	G	8.947	0.967276	0.18659	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.89810	-2.57;-2.57;-2.57	5.02	-1.06	0.10002	Myotubularin phosphatase domain (1);	0.382752	0.29059	N	0.013278	T	0.80407	0.4617	L	0.39397	1.21	0.40216	D	0.977685	B;B	0.17852	0.003;0.024	B;B	0.18561	0.011;0.022	T	0.65483	-0.6157	10	0.11794	T	0.64	.	11.5497	0.50713	0.5413:0.0:0.4587:0.0	.	1354;1380	O95248;O95248-4	MTMR5_HUMAN;.	L	1380;1355;1390;1354	ENSP00000370196:F1380L;ENSP00000252027:F1355L;ENSP00000375097:F1354L	ENSP00000336522:F1390L	F	-	3	2	SBF1	49241637	0.000000	0.05858	0.995000	0.50966	0.967000	0.64934	-2.684000	0.00835	-0.130000	0.11599	-0.357000	0.07601	TTC		0.617	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	43	0	0	0	1	0	5	43					C	50894771	G	C	50894771	3	2	57	1	0	0	0	0	1	0	0	0	13858	1049	37	4	1585	4	SBF1	22	50894771	Missense_Mutation	SNP	G	TCGA-DJ-A13L-01A-11D-A21Z-08	19043491	50894771	409795	39	1105											
KCNT2	343450	broad.mit.edu	37	1	196577366	196577366	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr1:196577366T>C	ENST00000294725.9	-	1	989	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	KCNT2_ENST00000367433.5_Missense_Mutation_p.Q25R|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q25R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q25R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	25					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGCCATCCTTGGTCCCCTAG	0.512																																						uc001gtd.1																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(73-75)cAa>cGa		Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.							196	167	177					1																	196577366		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196577366T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.74A>G	1.37:g.196577366T>C	ENSP00000294725:p.Gln25Arg		Somatic				KCNT2_uc001gte.1_Missense_Mutation_p.Q25R|KCNT2_uc001gtf.1_Missense_Mutation_p.Q25R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.Q25R|KCNT2_uc009wyv.1_Missense_Mutation_p.Q25R	p.Q25R	NM_198503	NP_940905	WXS	Illumina GAIIx	Phase_I	Q6UVM3	KCNT2_HUMAN			0	134	-			25					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.74A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822260	0.50739	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18174	2.23;2.23;2.48	5.5	5.5	0.81552	.	0.000000	0.49916	D	0.000133	T	0.07413	0.0187	N	0.02011	-0.69	0.80722	D	1	P;P;P;P	0.47106	0.725;0.82;0.89;0.725	B;B;B;B	0.44224	0.258;0.351;0.444;0.258	T	0.43163	-0.9408	10	0.12103	T	0.63	-14.0769	11.9163	0.52767	0.0:0.0:0.0:1.0	.	25;25;25;25	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	R	25	ENSP00000356403:Q25R;ENSP00000356401:Q25R;ENSP00000294725:Q25R	ENSP00000294725:Q25R	Q	-	2	0	KCNT2	194843989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.723000	0.54955	2.299000	0.77371	0.528000	0.53228	CAA		0.512	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		3	148	0	0	0	1	0	3	148					C	196577366	T	C	196577366	3	2	58	1	0	0	0	0	1	0	0	0	8092	1812	63	3	3445	3	KCNT2	1	196577366	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		196577366	52673255	1	1106											
AGAP1	116987	broad.mit.edu	37	2	236957789	236957789	+	Silent	SNP	C	C	A			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr2:236957789C>A	ENST00000304032.8	+	16	2558	c.1978C>A	c.(1978-1980)Cga>Aga	p.R660R	AGAP1_ENST00000428334.2_Silent_p.R499R|AGAP1_ENST00000409538.1_Silent_p.R872R|AGAP1_ENST00000336665.5_Silent_p.R607R	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	660	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						CCACCTTTCCCGAGTCCGATC	0.567																																						uc002vvs.3																			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.(1978-1980)Cga>Aga		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.							153	136	141					2																	236957789		2203	4300	6503	SO:0001819	synonymous_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.chr2:236957789C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1978C>A	2.37:g.236957789C>A			Somatic				AGAP1_uc002vvt.3_Silent_p.R607R	p.R660R	NM_001037131	NP_001032208	WXS	Illumina GAIIx	Phase_I	Q9UPQ3	AGAP1_HUMAN			15	2576	+			660			Arf-GAP.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.1978C>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394508	0.25205	.	.	ENSG00000157985	ENST00000418654;ENST00000453371	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73777	-0.3876	4	.	.	.	.	19.0581	0.93074	0.0:1.0:0.0:0.0	.	.	.	.	Q	212;61	.	.	P	+	2	0	AGAP1	236622528	0.993000	0.37304	0.943000	0.38184	0.944000	0.59088	3.083000	0.50136	2.488000	0.83962	0.655000	0.94253	CCG		0.567	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		3	116	0	0	0	1	0	3	116					A	236957789	C	A	236957789	2	1	58	1	0	0	0	0	0	0	0	1	366	644	23	4		4	AGAP1	2	236957789	Silent	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08		236957789	6241584	2	1107											
ANP32C	55016	broad.mit.edu	37	4	165118489	165118489	+	Intron	SNP	G	G	A			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr4:165118489G>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCCGTAGTCGTTCAGGTTGG	0.458																																						uc011cjk.2																			0				NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35						c.(373-375)aaC>aaT		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.							166	159	162					4																	165118489		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118489G>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85675C>T	4.37:g.165118489G>A			Somatic				MARCH1_uc003iqs.2_Intron	p.N125N	NM_012403	NP_036535	WXS	Illumina GAIIx	Phase_I	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	0	375	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	125					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.375C>T	CCDS54814.1																																																																																				0.458	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		66	117	0	0	0	1	0	66	117					A	165118489	G	A	165118489	1	1	58	0	1	0	0	0	0	0	0	0	707	1136	40	1		1	ANP32C	4	165118489	Intron	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		165118489	26035787	3	1108											
TBX20	57057	broad.mit.edu	37	7	35280519	35280519	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr7:35280519G>A	ENST00000408931.3	-	5	1311	c.785C>T	c.(784-786)aCg>aTg	p.T262M		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	262					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTGACTGCCGTAAAAACTGT	0.403																																						uc011kas.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18	GRCh37	CM086967	TBX20	M		c.(784-786)aCg>aTg		Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.							90	83	85					7																	35280519		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35280519G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.785C>T	7.37:g.35280519G>A	ENSP00000386170:p.Thr262Met		Somatic					p.T262M	NM_001077653	NP_001071121	WXS	Illumina GAIIx	Phase_I	Q9UMR3	TBX20_HUMAN			4	1265	-			262					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.785C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645634	0.87958	.	.	ENSG00000164532	ENST00000408931	D	0.88124	-2.34	5.72	5.72	0.89469	p53-like transcription factor, DNA-binding (1);	0.045936	0.85682	D	0.000000	D	0.91379	0.7280	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90391	0.4395	10	0.44086	T	0.13	.	19.8917	0.96932	0.0:0.0:1.0:0.0	.	262	Q9UMR3	TBX20_HUMAN	M	262	ENSP00000386170:T262M	ENSP00000386170:T262M	T	-	2	0	TBX20	35247044	1.000000	0.71417	0.529000	0.27951	0.991000	0.79684	9.869000	0.99810	2.705000	0.92388	0.591000	0.81541	ACG		0.403	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		28	42	0	0	0	1	0	28	42					A	35280519	G	A	35280519	3	1	58	1	0	0	0	0	1	0	0	0	15653	1145	40	1	575	1	TBX20	7	35280519	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		35280519	123858144	4	1109											
ZNHIT1	10467	broad.mit.edu	37	7	100865924	100865924	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr7:100865924G>A	ENST00000305105.2	+	2	590	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	21					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGCTGGACCGGGCTGCCCGG	0.667																																						uc003uye.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11						c.(61-63)cGg>cAg		Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA.							39	48	45					7																	100865924		2202	4297	6499	SO:0001583	missense	10467						metal ion binding|protein binding	g.chr7:100865924G>A	AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.62G>A	7.37:g.100865924G>A	ENSP00000304593:p.Arg21Gln		Somatic				ZNHIT1_uc003uyf.3_Non-coding_Transcript	p.R21Q	NM_006349	NP_006340	WXS	Illumina GAIIx	Phase_I	O43257	ZNHI1_HUMAN			1	554	+	Lung NSC(181;0.168)|all_lung(186;0.215)		21					Q6IB12	Missense_Mutation	SNP	ENST00000305105.2	37	c.62G>A	CCDS5716.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530827	0.45073	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.14	3.31	0.37934	.	0.398463	0.26000	N	0.026941	T	0.16599	0.0399	N	0.08118	0	0.27537	N	0.95091	B	0.02656	0.0	B	0.01281	0.0	T	0.09487	-1.0672	9	0.37606	T	0.19	-26.8896	6.0544	0.19802	0.1743:0.154:0.6717:0.0	.	21	O43257	ZNHI1_HUMAN	Q	21	.	ENSP00000304593:R21Q	R	+	2	0	ZNHIT1	100652644	1.000000	0.71417	0.997000	0.53966	0.749000	0.42624	2.870000	0.48451	1.166000	0.42689	-0.311000	0.09066	CGG		0.667	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		3	97	0	0	0	1	0	3	97					A	100865924	G	A	100865924	3	1	58	1	0	0	0	0	1	0	0	0	18203	1116	39	1	68	1	ZNHIT1	7	100865924	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08	65585405	100865924	58272739	5	1110											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		62	79	0	0	0	1	0	62	79					C	533874	T	C	533874	3	2	58	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		533874	134472642	6	1111											
COL4A1	1282	broad.mit.edu	37	13	110830543	110830543	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr13:110830543C>T	ENST00000375820.4	-	32	2615	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	832	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)			CCAGGGAATCCGGGGAAACCC	0.517																																						uc001vqw.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.(2494-2496)Gga>Aga		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							64	72	69					13																	110830543		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110830543C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2494G>A	13.37:g.110830543C>T	ENSP00000364979:p.Gly832Arg		Somatic					p.G832R	NM_001845	NP_001836	WXS	Illumina GAIIx	Phase_I	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		31	2616	-	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)	832			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2494G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191883	0.94923	.	.	ENSG00000187498	ENST00000375820	D	0.99353	-5.77	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97436	1.0018	10	0.87932	D	0	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	832	P02462	CO4A1_HUMAN	R	832	ENSP00000364979:G832R	ENSP00000364979:G832R	G	-	1	0	COL4A1	109628544	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.170000	0.77587	2.595000	0.87683	0.655000	0.94253	GGA		0.517	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			6	155	0	0	0	1	0	6	155					T	110830543	C	T	110830543	3	4	58	1	0	0	0	0	1	0	0	0	3689	661	23	1	2599	1	COL4A1	13	110830543	Missense_Mutation	SNP	C	TCGA-DJ-A13M-01A-11D-A10S-08		110830543	4339335	7	1112											
SLC5A2	6524	broad.mit.edu	37	16	31499763	31499763	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr16:31499763T>G	ENST00000330498.3	+	9	1100	c.1081T>G	c.(1081-1083)Tgc>Ggc	p.C361G	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	361					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGAGGTGGGCTGCTCCAACAT	0.711																																						uc002ecf.4																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1081-1083)Tgc>Ggc		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.							35	35	35					16																	31499763		2196	4299	6495	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499763T>G		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1081T>G	16.37:g.31499763T>G	ENSP00000327943:p.Cys361Gly		Somatic				SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	p.C361G	NM_003041	NP_003032	WXS	Illumina GAIIx	Phase_I	P31639	SC5A2_HUMAN			8	1100	+			361					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1081T>G	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434228	0.83776	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.88124	-2.34;-2.34	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94368	0.7593	10	0.62326	D	0.03	.	12.197	0.54303	0.0:0.0:0.0:1.0	.	361	P31639	SC5A2_HUMAN	G	361	ENSP00000327943:C361G;ENSP00000410601:C361G	ENSP00000327943:C361G	C	+	1	0	SLC5A2	31407264	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.863000	0.87023	1.987000	0.57996	0.459000	0.35465	TGC		0.711	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			12	5	0	0	0	1	0	12	5					G	31499763	T	G	31499763	3	3	58	1	0	0	0	0	1	0	0	0	14665	1580	55	5	1115	5	SLC5A2	16	31499763	Missense_Mutation	SNP	T	TCGA-DJ-A13M-01A-11D-A10S-08		31499763	58854990	8	1113											
ENGASE	64772	broad.mit.edu	37	17	77073871	77073871	+	Missense_Mutation	SNP	G	G	A	rs575038984	byFrequency	TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr17:77073871G>A	ENST00000579016.1	+	3	341	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	114						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.R114L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGGCGTGTCGCCAGCCCCCT	0.582													G|||	2	0.000399361	0	0	5008	,	,		13341	0.002		0	False		,,,				2504	0					uc002jwv.3																			1	Substitution - Missense(1)	p.R114L(2)|p.R114C(1)	lung(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(340-342)cGc>cAc		Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.							46	49	48					17																	77073871		1929	4133	6062	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073871G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.341G>A	17.37:g.77073871G>A	ENSP00000462333:p.Arg114His		Somatic				ENGASE_uc002jwu.1_Missense_Mutation_p.R114H|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	p.R114H	NM_001042573	NP_001036038	WXS	Illumina GAIIx	Phase_I	Q8NFI3	ENASE_HUMAN			2	349	+			114					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.341G>A	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358340	0.41801	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.964;0.985	T	0.79829	-0.1638	9	0.56958	D	0.05	-10.0868	18.133	0.89608	0.0:0.0:1.0:0.0	.	114;114	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	H	114	.	ENSP00000308158:R114H	R	+	2	0	ENGASE	74585466	1.000000	0.71417	0.955000	0.39395	0.391000	0.30476	9.166000	0.94766	2.260000	0.74910	0.563000	0.77884	CGC		0.582	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		27	46	0	0	0	1	0	27	46					A	77073871	G	A	77073871	3	1	58	1	0	0	0	0	1	0	0	0	5118	1087	38	1	351	1	ENGASE	17	77073871	Missense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		77073871	4121339	9	1114											
WDR62	284403	broad.mit.edu	37	19	36558892	36558892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A13M-01A-11D-A10S-08	TCGA-DJ-A13M-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12	f91253d1-45d5-43b4-8cc7-de0ffa145b46	g.chr19:36558892G>T	ENST00000270301.7	+	7	862	c.862G>T	c.(862-864)Gag>Tag	p.E288*	WDR62_ENST00000401500.2_Nonsense_Mutation_p.E288*|WDR62_ENST00000388999.3_Nonsense_Mutation_p.E288*|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	288					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGGTGCTGGAGAAGTGGAT	0.577																																						uc002odd.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(862-864)Gag>Tag		Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.							92	68	76					19																	36558892		2203	4300	6503	SO:0001587	stop_gained	284403				cerebral cortex development	nucleus		g.chr19:36558892G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.862G>T	19.37:g.36558892G>T	ENSP00000270301:p.Glu288*		Somatic				WDR62_uc002odc.2_Nonsense_Mutation_p.E288*|WDR62_uc002odb.2_Nonsense_Mutation_p.E288*	p.E288*	NM_001083961	NP_001077430	WXS	Illumina GAIIx	Phase_I	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	953	+	Esophageal squamous(110;0.162)		288					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Nonsense_Mutation	SNP	ENST00000270301.7	37	c.862G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	37	6.442589	0.97572	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	.	.	.	6.01	6.01	0.97437	.	0.100244	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.0094	18.069	0.89399	0.0:0.0:1.0:0.0	.	.	.	.	X	288;288;288;288;310	.	ENSP00000270301:E288X	E	+	1	0	WDR62	41250732	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.469000	0.97679	2.869000	0.98440	0.558000	0.71614	GAG		0.577	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	39	0	0	0	1	0	7	39					T	36558892	G	T	36558892	4	4	58	1	0	0	0	0	0	1	0	0	17310	1175	41	4	888	4	WDR62	19	36558892	Nonsense_Mutation	SNP	G	TCGA-DJ-A13M-01A-11D-A10S-08		36558892	22570091	10	1115											
C1orf91	56063	broad.mit.edu	37	1	32682537	32682537	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:32682537C>T	ENST00000344461.3	-	5	355	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000309777.6_Missense_Mutation_p.G114S|TMEM234_ENST00000545122.1_3'UTR|TMEM234_ENST00000485689.1_5'UTR			Q8WY98	TM234_HUMAN	transmembrane protein 234	114						integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						AGCACCATGCCAGCAACTGCT	0.552																																						uc001buq.4																			0				kidney(2)|lung(3)	5						c.(340-342)Ggc>Agc		Homo sapiens transmembrane protein 234 (TMEM234), mRNA.							81	73	76					1																	32682537		2203	4300	6503	SO:0001583	missense	56063					integral to membrane		g.chr1:32682537C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 91"	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.340G>A	1.37:g.32682537C>T	ENSP00000344021:p.Gly114Ser		Somatic				TMEM234_uc001buo.3_Non-coding_Transcript|TMEM234_uc001bup.3_Non-coding_Transcript|TMEM234_uc009vub.1_3'UTR|TMEM234_uc010oha.2_Non-coding_Transcript	p.G114S	NM_019118	NP_061991	WXS	Illumina GAIIx	Phase_I	Q8WY98	TM234_HUMAN			4	343	-			114					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.340G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.112206	0.94339	.	.	ENSG00000160055	ENST00000309777;ENST00000344461	T;T	0.80214	-1.35;-1.35	5.0	5.0	0.66597	.	.	.	.	.	D	0.91068	0.7189	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92255	0.5812	9	0.87932	D	0	.	18.4558	0.90720	0.0:1.0:0.0:0.0	.	114	Q8WY98-3	.	S	114	ENSP00000309792:G114S;ENSP00000344021:G114S	ENSP00000309792:G114S	G	-	1	0	TMEM234	32455124	1.000000	0.71417	0.981000	0.43875	0.981000	0.71138	5.650000	0.67944	2.775000	0.95449	0.563000	0.77884	GGC		0.552	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		3	49	0	0	0	1	0	3	49					T	32682537	C	T	32682537	3	4	59	1	0	0	0	0	1	0	0	0	2068	594	21	2	86	2	C1orf91	1	32682537	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		32682537	216568084	1	1116											
KCNK1	3775	broad.mit.edu	37	1	233750036	233750036	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr1:233750036T>A	ENST00000366621.3	+	1	287	c.119T>A	c.(118-120)gTc>gAc	p.V40D		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	40					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GGCGCAGTGGTCTTCTCCTCG	0.657																																						uc010pxo.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(118-120)gTc>gAc		Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	Ibutilide(DB00308)|Quinidine(DB00908)						39	37	38					1																	233750036		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233750036T>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.119T>A	1.37:g.233750036T>A	ENSP00000355580:p.Val40Asp		Somatic					p.V40D	NM_002245	NP_002236	WXS	Illumina GAIIx	Phase_I	O00180	KCNK1_HUMAN			0	287	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	40					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.119T>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611446	0.66558	.	.	ENSG00000135750	ENST00000366621	T	0.26957	1.7	4.02	2.88	0.33553	.	0.138089	0.47852	D	0.000214	T	0.38108	0.1028	M	0.83384	2.64	0.80722	D	1	D	0.55385	0.971	P	0.49012	0.598	T	0.31194	-0.9952	10	0.87932	D	0	.	8.9988	0.36069	0.0:0.0906:0.0:0.9094	.	40	O00180	KCNK1_HUMAN	D	40	ENSP00000355580:V40D	ENSP00000355580:V40D	V	+	2	0	KCNK1	231816659	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	5.724000	0.68500	0.422000	0.26005	-0.326000	0.08463	GTC		0.657	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		6	31	0	0	0	1	0	6	31					A	233750036	T	A	233750036	3	1	59	1	0	0	0	0	1	0	0	0	8058	1667	58	5	121	5	KCNK1	1	233750036	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08	201067499	233750036	15500585	2	1117											
BRD8	10902	broad.mit.edu	37	5	137504371	137504371	+	Intron	SNP	G	G	A			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr5:137504371G>A	ENST00000254900.5	-	8	1014				BRD8_ENST00000230901.5_Missense_Mutation_p.P217S|BRD8_ENST00000411594.2_Missense_Mutation_p.P217S|BRD8_ENST00000402931.1_Intron|BRD8_ENST00000455658.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8						cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGTCCCGGGGGTTACCTAA	0.483																																						uc003lcg.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(649-651)Ccc>Tcc		Homo sapiens bromodomain containing 8 (BRD8), transcript variant 1, mRNA.							28	30	29					5																	137504371		2203	4300	6503	SO:0001627	intron_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137504371G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.642+539C>T	5.37:g.137504371G>A			Somatic				BRD8_uc003lcf.1_Intron|BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Missense_Mutation_p.P73S|BRD8_uc003lci.3_Missense_Mutation_p.P217S|BRD8_uc011cym.2_Intron|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron	p.P217S	NM_006696	NP_006687	WXS	Illumina GAIIx	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	704	-			177					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.649C>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285272	0.23478	.	.	ENSG00000112983	ENST00000454473;ENST00000418329;ENST00000230901;ENST00000411594;ENST00000239899	T;T;T;T	0.30714	1.52;1.52;1.69;1.52	6.17	6.17	0.99709	.	.	.	.	.	T	0.30103	0.0754	N	0.19112	0.55	0.80722	D	1	P;P;P;P	0.50819	0.9;0.939;0.939;0.939	B;P;P;P	0.49708	0.288;0.482;0.62;0.482	T	0.01273	-1.1399	9	0.44086	T	0.13	.	14.9956	0.71428	0.0:0.1421:0.8579:0.0	.	217;217;77;217	A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2	.;.;.;.	S	212;212;217;217;77	ENSP00000398067:P212S;ENSP00000398873:P212S;ENSP00000230901:P217S;ENSP00000394330:P217S	ENSP00000230901:P217S	P	-	1	0	BRD8	137532270	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.657000	0.61490	2.941000	0.99782	0.655000	0.94253	CCC		0.483	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		7	50	0	0	0	1	0	7	50					A	137504371	G	A	137504371	1	1	59	0	1	0	0	0	0	0	0	0	1506	1232	43	2		2	BRD8	5	137504371	Intron	SNP	G	TCGA-DJ-A13O-01A-11D-A10S-08		137504371	43410889	3	1118											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	95	0	0	0	1	0	14	95					T	140453136	A	T	140453136	3	4	59	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13O-01A-11D-A10S-08		140453136	18685527	4	1119											
PRICKLE1	144165	broad.mit.edu	37	12	42860031	42860031	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:42860031T>C	ENST00000455697.1	-	6	1025	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247C|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247C|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	247	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GTACTCCGCATAGAGAGACTC	0.522																																						uc010skv.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(739-741)tAt>tGt		Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.							78	74	75					12																	42860031		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860031T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.740A>G	12.37:g.42860031T>C	ENSP00000401060:p.Tyr247Cys		Somatic				PRICKLE1_uc001rnl.3_Missense_Mutation_p.Y247C|PRICKLE1_uc010skw.2_Missense_Mutation_p.Y247C|PRICKLE1_uc001rnm.3_Missense_Mutation_p.Y247C	p.Y247C	NM_001144881	NP_694571	WXS	Illumina GAIIx	Phase_I	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	5	1027	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		247			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.740A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609051	0.87258	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94086	0.7348	10	0.87932	D	0	-3.2687	15.3353	0.74247	0.0:0.0:0.0:1.0	.	247	Q96MT3	PRIC1_HUMAN	C	247	ENSP00000401060:Y247C;ENSP00000398947:Y247C;ENSP00000448359:Y247C;ENSP00000345064:Y247C;ENSP00000449819:Y247C	ENSP00000345064:Y247C	Y	-	2	0	PRICKLE1	41146298	1.000000	0.71417	0.834000	0.33040	0.995000	0.86356	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	TAT		0.522	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			12	57	0	0	0	1	0	12	57					C	42860031	T	C	42860031	3	2	59	1	0	0	0	0	1	0	0	0	12486	1406	49	3	1767	3	PRICKLE1	12	42860031	Missense_Mutation	SNP	T	TCGA-DJ-A13O-01A-11D-A10S-08		42860031	90991864	5	1120											
ANAPC5	51433	broad.mit.edu	37	12	121766258	121766258	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr12:121766258C>T	ENST00000261819.3	-	10	1286	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A277T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A376T|ANAPC5_ENST00000536366.1_Silent_p.E210E|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A277T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A55T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	389					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGCAAAAGCTCTCTGTTGA	0.488																																						uc001uag.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1165-1167)Gct>Act		Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.							125	101	109					12																	121766258		2203	4300	6503	SO:0001583	missense	51433				G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766258C>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1165G>A	12.37:g.121766258C>T	ENSP00000261819:p.Ala389Thr		Somatic				ANAPC5_uc010szu.2_Missense_Mutation_p.A55T|ANAPC5_uc001uae.3_5'UTR|ANAPC5_uc010szv.2_5'UTR|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.A277T	p.A389T	NM_016237	NP_057321	WXS	Illumina GAIIx	Phase_I	Q9UJX4	APC5_HUMAN			9	1287	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		389					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1165G>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431404	0.96150	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000344395	.	.	.	5.74	5.74	0.90152	.	0.045011	0.85682	D	0.000000	T	0.66839	0.2830	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	D;P;P	0.63283	0.913;0.755;0.82	T	0.69018	-0.5256	9	0.87932	D	0	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	55;277;389	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	T	277;376;389;55;277	.	ENSP00000261819:A389T	A	-	1	0	ANAPC5	120250641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.715000	0.92844	0.655000	0.94253	GCT		0.488	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			8	60	0	0	0	1	0	8	60					T	121766258	C	T	121766258	3	4	59	1	0	0	0	0	1	0	0	0	605	797	28	2	1134	2	ANAPC5	12	121766258	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08	78906227	121766258	12085637	6	1121											
PCDH8	5100	broad.mit.edu	37	13	53421761	53421761	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13O-01A-11D-A10S-08	TCGA-DJ-A13O-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5	4d57a896-48c1-4083-b177-faad58d5dfaf	g.chr13:53421761C>T	ENST00000377942.3	-	1	1014	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A271T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCGGGGTCGGCTGCGTCCAGG	0.716																																					GBM(36;25 841 9273 49207)	uc001vhi.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(811-813)Gcc>Acc		Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.							6	6	6					13																	53421761		1976	3959	5935	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421761C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.811G>A	13.37:g.53421761C>T	ENSP00000367177:p.Ala271Thr		Somatic				PCDH8_uc001vhj.3_Missense_Mutation_p.A271T	p.A271T	NM_002590	NP_002581	WXS	Illumina GAIIx	Phase_I	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	0	1015	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	271			Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.811G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.367176	0.01225	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.43294	0.95;0.95	4.37	3.53	0.40419	Cadherin (5);Cadherin-like (1);	0.000000	0.43919	D	0.000517	T	0.10723	0.0262	N	0.00368	-1.59	0.09310	N	1	B;B	0.19445	0.036;0.016	B;B	0.21360	0.034;0.034	T	0.32719	-0.9896	10	0.02654	T	1	.	11.6473	0.51269	0.0:0.9133:0.0:0.0867	.	271;271	O95206-2;O95206	.;PCDH8_HUMAN	T	271	ENSP00000367177:A271T;ENSP00000341350:A271T	ENSP00000341350:A271T	A	-	1	0	PCDH8	52319762	0.021000	0.18746	0.941000	0.38009	0.300000	0.27592	1.871000	0.39539	1.064000	0.40671	-0.448000	0.05591	GCC		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		2	4	0	0	0	1	0	2	4					T	53421761	C	T	53421761	3	4	59	1	0	0	0	0	1	0	0	0	11517	797	28	2	2413	2	PCDH8	13	53421761	Missense_Mutation	SNP	C	TCGA-DJ-A13O-01A-11D-A10S-08		53421761	61748117	7	1122											
CLCN6	1185	broad.mit.edu	37	1	11888618	11888618	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:11888618G>C	ENST00000346436.6	+	12	1110	c.1058G>C	c.(1057-1059)tGt>tCt	p.C353S	CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.C353S|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCAACTGTCTGAACAAG	0.537																																						uc001ate.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1057-1059)tGt>tCt		Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.							177	188	184					1																	11888618		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity	g.chr1:11888618G>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1058G>C	1.37:g.11888618G>C	ENSP00000234488:p.Cys353Ser		Somatic				CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.2_Missense_Mutation_p.C69S|CLCN6_uc010oau.2_Missense_Mutation_p.C331S	p.C353S	NM_001286	NP_001277	WXS	Illumina GAIIx	Phase_I	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	11	1171	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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)	353					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1058G>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821060	0.50633	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.93659	-3.26;-3.26;-3.26	6.07	6.07	0.98685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.86443	0.5934	N	0.05414	-0.055	0.80722	D	1	B;B	0.17465	0.022;0.011	B;B	0.15052	0.006;0.012	T	0.80511	-0.1350	10	0.20046	T	0.44	-19.9849	19.6321	0.95713	0.0:0.0:1.0:0.0	.	331;353	F8W9R3;P51797	.;CLCN6_HUMAN	S	353;331;353	ENSP00000234488:C353S;ENSP00000365670:C331S;ENSP00000365679:C353S	ENSP00000234488:C353S	C	+	2	0	CLCN6	11811205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	TGT		0.537	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		4	399	0	0	0	1	0	4	399					C	11888618	G	C	11888618	3	2	60	1	0	0	0	0	1	0	0	0	3467	1377	48	4	1114	4	CLCN6	1	11888618	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		11888618	237362003	1	1123											
PPOX	5498	broad.mit.edu	37	1	161140206	161140206	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr1:161140206G>C	ENST00000367999.4	+	10	1261	c.995G>C	c.(994-996)gGa>gCa	p.G332A	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G77A|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G332A	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	332			G -> A (in VP; abolishes activity; impairs protein folding and/or stability). {ECO:0000269|PubMed:18570668, ECO:0000269|PubMed:23430901}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGATTTGGACATTTGGTG	0.557																																						uc001fyj.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(994-996)gGa>gCa		Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							88	82	84					1																	161140206		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140206G>C	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.995G>C	1.37:g.161140206G>C	ENSP00000356978:p.Gly332Ala		Somatic				PPOX_uc001fyg.2_Missense_Mutation_p.G332A|PPOX_uc010pkg.1_Missense_Mutation_p.G170A|PPOX_uc001fyi.2_Missense_Mutation_p.G170A|PPOX_uc010pkh.1_Missense_Mutation_p.G77A	p.G332A	NM_001122764	NP_001116236	WXS	Illumina GAIIx	Phase_I	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1285	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		332					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.995G>C	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.56|18.56	3.650072|3.650072	0.67472|0.67472	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.|D;D;D	.|0.99748	.|-6.62;-6.62;-6.62	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Amine oxidase (1);	.|0.110089	.|0.64402	.|D	.|0.000008	D|D	0.99796|0.99796	0.9913|0.9913	M|M	0.93720|0.93720	3.45|3.45	0.48040|0.48040	D|D	0.999574|0.999574	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.962;0.972	D|D	0.97274|0.97274	0.9913|0.9913	5|10	.|0.72032	.|D	.|0.01	-8.1151|-8.1151	14.6179|14.6179	0.68562|0.68562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;3;170;332	.|B4DQQ7;Q96SE3;B3KT30;P50336	.|.;.;.;PPOX_HUMAN	H|A	85;55|332;332;299;77	.|ENSP00000343943:G332A;ENSP00000356978:G332A;ENSP00000396841:G77A	.|ENSP00000343943:G332A	D|G	+|+	1|2	0|0	PPOX|PPOX	159406830|159406830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.747000|7.747000	0.85070|0.85070	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.557	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		3	104	0	0	0	1	0	3	104					C	161140206	G	C	161140206	3	2	60	1	0	0	0	0	1	0	0	0	12348	1174	41	4	1029	4	PPOX	1	161140206	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08	149251588	161140206	88110415	2	1124											
LRRTM4	80059	broad.mit.edu	37	2	77746748	77746748	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr2:77746748C>T	ENST00000409093.1	-	3	583	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G83S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.G83S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	83					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.G83C(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGGTTAAGGCCGGCAAACTGA	0.403																																						uc002snr.3																			2	Substitution - Missense(2)	p.G83C(3)|p.A82V(1)|p.A82A(1)	lung(2)	autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(247-249)Ggc>Agc		Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.							131	124	126					2																	77746748		1902	4115	6017	SO:0001583	missense	80059					integral to membrane		g.chr2:77746748C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.247G>A	2.37:g.77746748C>T	ENSP00000386357:p.Gly83Ser		Somatic				LRRTM4_uc002snq.3_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S	p.G83S	NM_001134745	NP_001128217	WXS	Illumina GAIIx	Phase_I	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	2	662	-			83					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.247G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406729	0.25378	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.96	5.07	0.68467	.	0.154837	0.64402	N	0.000013	T	0.39627	0.1085	N	0.20881	0.62	0.58432	D	0.999991	P;B;B	0.37985	0.613;0.307;0.143	B;B;B	0.32211	0.142;0.087;0.057	T	0.24584	-1.0156	10	0.25106	T	0.35	.	12.6798	0.56916	0.0:0.9182:0.0:0.0818	.	84;83;83	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	84;83;83;83;84	ENSP00000387228:G84S;ENSP00000387297:G83S;ENSP00000386357:G83S;ENSP00000386236:G83S;ENSP00000386286:G84S	ENSP00000386236:G83S	G	-	1	0	LRRTM4	77600256	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	1.486000	0.48398	0.655000	0.94253	GGC		0.403	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	122	0	0	0	1	0	4	122					T	77746748	C	T	77746748	3	4	60	1	0	0	0	0	1	0	0	0	9042	652	23	1	1539	1	LRRTM4	2	77746748	Missense_Mutation	SNP	C	TCGA-DJ-A13P-01A-11D-A10S-08		77746748	165452625	3	1125											
TBC1D5	9779	broad.mit.edu	37	3	17349528	17349528	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr3:17349528A>G	ENST00000253692.7	-	14	2758	c.1094T>C	c.(1093-1095)gTa>gCa	p.V365A	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.V365A|TBC1D5_ENST00000446818.2_Missense_Mutation_p.V365A|TBC1D5_ENST00000429924.2_Missense_Mutation_p.V317A	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	365						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GATATAATCTACTAAACCCAG	0.463																																						uc010hev.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1093-1095)gTa>gCa		Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.							81	78	79					3																	17349528		2203	4300	6503	SO:0001583	missense	9779					intracellular	Rab GTPase activator activity|protein binding	g.chr3:17349528A>G	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1094T>C	3.37:g.17349528A>G	ENSP00000253692:p.Val365Ala		Somatic				TBC1D5_uc010heu.3_5'UTR|TBC1D5_uc003cbf.3_Missense_Mutation_p.V365A|TBC1D5_uc003cbe.3_Missense_Mutation_p.V365A|TBC1D5_uc010hew.1_Missense_Mutation_p.V317A	p.V365A	NM_001134381	NP_001127853	WXS	Illumina GAIIx	Phase_I	Q92609	TBCD5_HUMAN			14	1358	-			365					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1094T>C	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417639	0.62622	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.55	5.55	0.83447	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.41710	1.295	0.80722	D	1	B;P;P	0.51240	0.372;0.943;0.94	P;P;P	0.62014	0.74;0.854;0.897	T	0.00415	-1.1753	10	0.66056	D	0.02	-17.9645	15.6976	0.77512	1.0:0.0:0.0:0.0	.	317;365;365	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	A	365;365;365;317	ENSP00000253692:V365A;ENSP00000398127:V365A;ENSP00000402935:V365A;ENSP00000411925:V317A	ENSP00000253692:V365A	V	-	2	0	TBC1D5	17324532	1.000000	0.71417	0.113000	0.21522	0.443000	0.32047	9.173000	0.94815	2.115000	0.64714	0.477000	0.44152	GTA		0.463	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		3	83	0	0	0	1	0	3	83					G	17349528	A	G	17349528	3	3	60	1	0	0	0	0	1	0	0	0	15620	391	14	3	1399	3	TBC1D5	3	17349528	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		17349528	180672902	4	1126											
HNRPDL	9987	broad.mit.edu	37	4	83349287	83349287	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr4:83349287G>A	ENST00000295470.5	-	3	833	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ENOPH1_ENST00000509635.1_5'Flank|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.P220S|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.P101S|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.P101S	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	220	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GCCCTTTTGGGATCTATCAAT	0.373																																						uc003hmr.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(658-660)Ccc>Tcc		Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.							96	99	98					4																	83349287		2203	4300	6503	SO:0001583	missense	9987				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83349287G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.658C>T	4.37:g.83349287G>A	ENSP00000295470:p.Pro220Ser		Somatic				ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.P220S	p.P220S	NM_031372	NP_112740	WXS	Illumina GAIIx	Phase_I	O14979	HNRDL_HUMAN			2	1193	-		Hepatocellular(203;0.114)	220			RRM 1.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.658C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.001272	0.74818	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.74106	-0.81;-0.81;-0.81	6.17	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	M	0.81341	2.54	0.80722	D	1	D;B	0.65815	0.995;0.249	D;B	0.69142	0.962;0.186	D	0.87197	0.2238	10	0.87932	D	0	.	15.9972	0.80260	0.065:0.0:0.935:0.0	.	101;220	O14979-3;O14979	.;HNRDL_HUMAN	S	220;220;101	ENSP00000295470:P220S;ENSP00000422040:P220S;ENSP00000338552:P101S	ENSP00000295470:P220S	P	-	1	0	HNRPDL	83568311	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.373000	0.97168	2.941000	0.99782	0.655000	0.94253	CCC		0.373	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		6	120	0	0	0	1	0	6	120					A	83349287	G	A	83349287	3	1	60	1	0	0	0	0	1	0	0	0	7276	1174	41	2	624	2	HNRPDL	4	83349287	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		83349287	107804989	5	1127											
C5orf42	65250	broad.mit.edu	37	5	37169637	37169637	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr5:37169637T>A	ENST00000508244.1	-	33	6582	c.6489A>T	c.(6487-6489)ttA>ttT	p.L2163F	C5orf42_ENST00000425232.2_Missense_Mutation_p.L2163F|C5orf42_ENST00000274258.7_Missense_Mutation_p.L1043F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2163						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTAATTGACATAAAGGAATAC	0.368																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(6487-6489)ttA>ttT		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							66	69	68					5																	37169637		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169637T>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6489A>T	5.37:g.37169637T>A	ENSP00000421690:p.Leu2163Phe		Somatic				C5orf42_uc011coy.1_Missense_Mutation_p.L663F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L1238F|C5orf42_uc003jkr.1_Missense_Mutation_p.L196F	p.L2163F	NM_023073	NP_075561	WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	6720	-	all_lung(31;0.000616)		2163					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.6489A>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112594	0.56398	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27402	1.71;1.71;1.67;1.69	5.39	-4.43	0.03568	.	1.265550	0.05870	N	0.624454	T	0.17408	0.0418	N	0.20986	0.625	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.11329	0.004;0.006	T	0.29941	-0.9995	10	0.45353	T	0.12	.	4.4666	0.11692	0.4596:0.2531:0.0:0.2873	.	2163;1043	E9PH94;Q9H799	.;CE042_HUMAN	F	2163;2163;1043;1211;1043	ENSP00000421690:L2163F;ENSP00000389014:L2163F;ENSP00000274258:L1043F;ENSP00000424223:L1211F	ENSP00000274258:L1043F	L	-	3	2	C5orf42	37205394	0.001000	0.12720	0.000000	0.03702	0.436000	0.31835	0.039000	0.13884	-0.668000	0.05296	0.533000	0.62120	TTA		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		40	63	0	0	0	1	0	40	63					A	37169637	T	A	37169637	3	1	60	1	0	0	0	0	1	0	0	0	2301	1403	49	5	3180	5	C5orf42	5	37169637	Missense_Mutation	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		37169637	143745623	6	1128											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		49	81	0	0	0	1	0	49	81					T	140453136	A	T	140453136	3	4	60	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		140453136	18685527	7	1129											
ANXA1	301	broad.mit.edu	37	9	75775259	75775259	+	Silent	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr9:75775259A>G	ENST00000376911.1	+	4	1233	c.351A>G	c.(349-351)caA>caG	p.Q117Q	ANXA1_ENST00000257497.6_Silent_p.Q117Q			P04083	ANXA1_HUMAN	annexin A1	117					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CTCCAGCGCAATTTGATGCTG	0.428																																						uc004ajf.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(349-351)caA>caG		Homo sapiens annexin A1 (ANXA1), mRNA.	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						107	107	107					9																	75775259		2203	4300	6503	SO:0001819	synonymous_variant	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775259A>G	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.351A>G	9.37:g.75775259A>G			Somatic				ANXA1_uc004ajg.1_Silent_p.Q117Q	p.Q117Q	NM_000700	NP_000691	WXS	Illumina GAIIx	Phase_I	P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	4	425	+		all_epithelial(88;2.54e-11)	117						Silent	SNP	ENST00000376911.1	37	c.351A>G	CCDS6645.1																																																																																				0.428	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		3	152	0	0	0	1	0	3	152					G	75775259	A	G	75775259	2	3	60	1	0	0	0	0	0	0	0	1	714	98	4	3		3	ANXA1	9	75775259	Silent	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		75775259	65438172	8	1130											
PTGR1	22949	broad.mit.edu	37	9	114345802	114345802	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr9:114345802C>T	ENST00000407693.2	-	6	707	c.445G>A	c.(445-447)Gca>Aca	p.A149T	PTGR1_ENST00000538962.1_Missense_Mutation_p.A149T|PTGR1_ENST00000309195.5_Missense_Mutation_p.A149T|PTGR1_ENST00000238248.3_Missense_Mutation_p.A26T	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	149					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CCAGCTGCTGCATTAACCATC	0.448																																					Ovarian(200;132 2151 7551 19220 46064)	uc010mue.3																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(445-447)Gca>Aca		Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.							179	163	168					9																	114345802		2203	4300	6503	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114345802C>T	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.445G>A	9.37:g.114345802C>T	ENSP00000385763:p.Ala149Thr		Somatic				PTGR1_uc011lwr.2_Missense_Mutation_p.A149T|PTGR1_uc004bfh.2_Missense_Mutation_p.A149T|PTGR1_uc004bfi.3_Missense_Mutation_p.A149T|PTGR1_uc004bfj.3_Missense_Mutation_p.A26T	p.A149T	NM_001146109	NP_001139581	WXS	Illumina GAIIx	Phase_I	Q14914	PTGR1_HUMAN			5	708	-			149					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.445G>A	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637103	0.67130	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	4.72	4.72	0.59763	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.89601	3.045	0.80722	D	1	D;P;P;D	0.69078	0.997;0.955;0.768;0.981	P;B;B;P	0.59424	0.857;0.306;0.143;0.479	T	0.73987	-0.3809	10	0.87932	D	0	-7.9426	17.3571	0.87340	0.0:1.0:0.0:0.0	.	149;149;26;149	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	T	149;149;149;26;26	ENSP00000440281:A149T;ENSP00000311572:A149T;ENSP00000385763:A149T;ENSP00000238248:A26T	ENSP00000238248:A26T	A	-	1	0	PTGR1	113385623	1.000000	0.71417	0.636000	0.29352	0.184000	0.23303	4.957000	0.63652	2.550000	0.86006	0.655000	0.94253	GCA		0.448	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			5	284	0	0	0	1	0	5	284					T	114345802	C	T	114345802	3	4	60	1	0	0	0	0	1	0	0	0	12753	710	25	2	595	2	PTGR1	9	114345802	Missense_Mutation	SNP	C	TCGA-DJ-A13P-01A-11D-A10S-08	38570543	114345802	26867629	9	1131											
AGAP11	119385	broad.mit.edu	37	10	88768854	88768854	+	RNA	SNP	G	G	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr10:88768854G>A	ENST00000444431.1	+	0	3454				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TCCGTCACTGGCCAAACGTGC	0.507																																						uc001kee.2																			0											c.(844-846)gGc>gAc		Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.							104	113	110					10																	88768854		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768854G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768854G>A			Somatic				AGAP11_uc001kef.3_Intron	p.G282D	NM_133447	NP_597704	WXS	Illumina GAIIx	Phase_I	Q8TF27	AGA11_HUMAN			11	2049	+			282			PH.		B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37	c.845G>A																																																																																					0.507	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		4	284	0	0	0	1	0	4	284					A	88768854	G	A	88768854	1	1	60	0	1	0	0	0	0	0	0	0	367	1203	42	2		2	AGAP11	10	88768854	RNA	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		88768854	46765893	10	1132											
CD44	960	broad.mit.edu	37	11	35232956	35232956	+	Silent	SNP	T	T	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:35232956T>C	ENST00000428726.2	+	14	1893	c.1770T>C	c.(1768-1770)acT>acC	p.T590T	CD44_ENST00000360158.4_Intron|CD44_ENST00000433892.2_Silent_p.T341T|CD44_ENST00000415148.2_Silent_p.T547T|CD44_ENST00000526669.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Intron|RP1-68D18.2_ENST00000510619.2_RNA|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000449691.2_Silent_p.T547T|CD44_ENST00000434472.2_Silent_p.T277T|CD44_ENST00000433354.2_Silent_p.T562T|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	590	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CTGCAGTTACTGTTGGAGATT	0.398																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1768-1770)acT>acC		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						215	197	203					11																	35232956		2202	4298	6500	SO:0001819	synonymous_variant	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35232956T>C	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1770T>C	11.37:g.35232956T>C			Somatic				CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Silent_p.T547T|CD44_uc001mvw.3_Silent_p.T341T|CD44_uc001mwc.4_Silent_p.T277T|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Silent_p.T118T|CD44_uc010res.2_Silent_p.T154T|CD44_uc010ret.2_Non-coding_Transcript	p.T590T	NM_000610	NP_000601	WXS	Illumina GAIIx	Phase_I	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		13	2204	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	590			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	c.1770T>C	CCDS7897.1																																																																																				0.398	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		8	262	0	0	0	1	0	8	262					C	35232956	T	C	35232956	2	2	60	1	0	0	0	0	0	0	0	1	3017	1567	55	3		3	CD44	11	35232956	Silent	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		35232956	99773560	11	1133											
MLL	4297	broad.mit.edu	37	11	118374769	118374769	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr11:118374769A>T	ENST00000389506.5	+	27	8153	c.8153A>T	c.(8152-8154)gAt>gTt	p.D2718V	KMT2A_ENST00000534358.1_Missense_Mutation_p.D2721V|KMT2A_ENST00000354520.4_Missense_Mutation_p.D2680V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2718		Cleavage; by TASP1, site 2.			anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCACAGTTGGATGGTGTTGAT	0.428																																						uc001ptb.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(8161-8163)gAt>gTt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							71	65	67					11																	118374769		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374769A>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8153A>T	11.37:g.118374769A>T	ENSP00000374157:p.Asp2718Val		Somatic				MLL_uc001pta.3_Missense_Mutation_p.D2718V	p.D2721V	NM_001197104	NP_001184033	WXS	Illumina GAIIx	Phase_I	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	8185	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2718					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8162A>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.287019	0.40494	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.92595	-3.07;-3.07;-3.01	5.51	5.51	0.81932	.	0.098878	0.64402	D	0.000002	D	0.95401	0.8507	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95809	0.8840	10	0.87932	D	0	.	15.794	0.78394	1.0:0.0:0.0:0.0	.	2721;2718	E9PQG7;Q03164	.;MLL1_HUMAN	V	2721;2718;2680;1628	ENSP00000436786:D2721V;ENSP00000374157:D2718V;ENSP00000346516:D2680V	ENSP00000346516:D2680V	D	+	2	0	MLL	117879979	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.650000	0.91073	2.317000	0.78254	0.459000	0.35465	GAT		0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	64	0	0	0	1	0	5	64					T	118374769	A	T	118374769	3	4	60	1	0	0	0	0	1	0	0	0	9620	333	12	5	8259	5	MLL	11	118374769	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08	83141813	118374769	16631747	12	1134											
HOXC12	3228	broad.mit.edu	37	12	54348806	54348806	+	Silent	SNP	G	G	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr12:54348806G>T	ENST00000243103.3	+	1	189	c.93G>T	c.(91-93)gcG>gcT	p.A31A	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	31					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						ACTTCCGCGCGTCCGGGGCGC	0.652																																						uc010soq.2																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(91-93)gcG>gcT		Homo sapiens homeobox C12 (HOXC12), mRNA.							31	38	35					12																	54348806		2203	4300	6503	SO:0001819	synonymous_variant	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348806G>T	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.93G>T	12.37:g.54348806G>T			Somatic					p.A31A	NM_173860	NP_776272	WXS	Illumina GAIIx	Phase_I	P31275	HXC12_HUMAN			0	93	+			31					Q9BXJ6	Silent	SNP	ENST00000243103.3	37	c.93G>T	CCDS8866.1																																																																																				0.652	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		6	45	0	0	0	1	0	6	45					T	54348806	G	T	54348806	2	4	60	1	0	0	0	0	0	0	0	1	7311	1132	40	4		4	HOXC12	12	54348806	Silent	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		54348806	79503089	13	1135											
ZFYVE26	23503	broad.mit.edu	37	14	68248225	68248225	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr14:68248225A>G	ENST00000347230.4	-	22	4532	c.4394T>C	c.(4393-4395)cTg>cCg	p.L1465P	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1465P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1465					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACGGGAAACAGGTATTGCCA	0.498																																						uc001xka.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4393-4395)cTg>cCg		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							95	92	93					14																	68248225		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68248225A>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4394T>C	14.37:g.68248225A>G	ENSP00000251119:p.Leu1465Pro		Somatic				ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.L1465P	p.L1465P	NM_015346	NP_056161	WXS	Illumina GAIIx	Phase_I	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4533	-			1465					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.4394T>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540998	0.85917	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.37752	1.35;1.18	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.60881	0.2303	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.64428	-0.6410	10	0.87932	D	0	-9.2215	16.2025	0.82095	1.0:0.0:0.0:0.0	.	1465;1465	G3V2D8;Q68DK2	.;ZFY26_HUMAN	P	1465;1444;1465	ENSP00000251119:L1465P;ENSP00000450603:L1465P	ENSP00000251119:L1465P	L	-	2	0	ZFYVE26	67317978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.679000	0.91220	2.231000	0.72958	0.459000	0.35465	CTG		0.498	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	157	0	0	0	1	0	3	157					G	68248225	A	G	68248225	3	3	60	1	0	0	0	0	1	0	0	0	17665	188	7	3	3309	3	ZFYVE26	14	68248225	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		68248225	39101315	14	1136											
NEO1	4756	broad.mit.edu	37	15	73528814	73528814	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr15:73528814A>G	ENST00000339362.5	+	9	1865	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	NEO1_ENST00000560262.1_Missense_Mutation_p.Y473C|NEO1_ENST00000261908.6_Missense_Mutation_p.Y473C|NEO1_ENST00000558964.1_Missense_Mutation_p.Y473C|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	473	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACCTTACCTACTCTGTGTTC	0.562																																						uc002avm.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1417-1419)tAc>tGc		Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.							181	149	160					15																	73528814		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528814A>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1418A>G	15.37:g.73528814A>G	ENSP00000341198:p.Tyr473Cys		Somatic				NEO1_uc010ukx.2_Missense_Mutation_p.Y473C|NEO1_uc010uky.2_Missense_Mutation_p.Y473C|NEO1_uc002avn.4_Missense_Mutation_p.Y493C|NEO1_uc010ukz.2_5'UTR	p.Y473C	NM_002499	NP_002490	WXS	Illumina GAIIx	Phase_I	Q92859	NEO1_HUMAN			7	1610	+			473			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1418A>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791756	0.70452	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.75050	-0.9;-0.9	6.05	6.05	0.98169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.054961	0.85682	D	0.000000	D	0.90438	0.7006	H	0.95645	3.7	0.80722	D	1	P;D;D;D	0.76494	0.804;0.999;0.979;0.991	P;D;D;D	0.79784	0.669;0.993;0.968;0.947	D	0.93073	0.6484	10	0.87932	D	0	-12.0065	16.5932	0.84781	1.0:0.0:0.0:0.0	.	473;473;211;473	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	C	473;211;473	ENSP00000341198:Y473C;ENSP00000261908:Y473C	ENSP00000261908:Y473C	Y	+	2	0	NEO1	71315867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.077000	0.76814	2.320000	0.78422	0.528000	0.53228	TAC		0.562	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	239	0	0	0	1	0	4	239					G	73528814	A	G	73528814	3	3	60	1	0	0	0	0	1	0	0	0	10336	391	14	3	1448	3	NEO1	15	73528814	Missense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		73528814	29002578	15	1137											
FAM64A	54478	broad.mit.edu	37	17	6348539	6348539	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr17:6348539G>A	ENST00000250056.8	+	2	192	c.109G>A	c.(109-111)Gag>Aag	p.E37K	FAM64A_ENST00000570337.2_Missense_Mutation_p.E37K|FAM64A_ENST00000571373.1_Missense_Mutation_p.E37K|FAM64A_ENST00000572447.1_Missense_Mutation_p.E37K|FAM64A_ENST00000572595.2_Missense_Mutation_p.E37K|FAM64A_ENST00000576056.1_Missense_Mutation_p.E37K	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	37					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCCATCAGGAGACCTCTGT	0.647																																						uc002gcw.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(109-111)Gag>Aag		Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.							28	29	29					17																	6348539		2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6348539G>A		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"CALM interacting protein expressed in thymus and spleen"					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.109G>A	17.37:g.6348539G>A	ENSP00000250056:p.Glu37Lys		Somatic				FAM64A_uc002gcu.2_Missense_Mutation_p.E37K	p.E37K	NM_001195228	NP_001182157	WXS	Illumina GAIIx	Phase_I	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	1	218	+			37					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.109G>A	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482282	0.44147	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.56444	0.46	5.08	3.08	0.35506	.	0.712790	0.12957	N	0.425350	T	0.41236	0.1150	L	0.43152	1.355	0.09310	N	1	P;B	0.38048	0.616;0.447	B;B	0.39617	0.305;0.168	T	0.16600	-1.0397	10	0.14252	T	0.57	-9.026	6.7574	0.23523	0.0941:0.1788:0.7271:0.0	.	37;37	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	K	37	ENSP00000250056:E37K	ENSP00000250056:E37K	E	+	1	0	FAM64A	6289263	0.177000	0.23109	0.002000	0.10522	0.022000	0.10575	2.085000	0.41634	0.725000	0.32318	0.655000	0.94253	GAG		0.647	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		22	32	0	0	0	1	0	22	32					A	6348539	G	A	6348539	3	1	60	1	0	0	0	0	1	0	0	0	5598	1175	41	2	111	2	FAM64A	17	6348539	Missense_Mutation	SNP	G	TCGA-DJ-A13P-01A-11D-A10S-08		6348539	74846671	16	1138											
GPATCH1	55094	broad.mit.edu	37	19	33592467	33592467	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chr19:33592467T>C	ENST00000170564.2	+	9	1381	c.1067T>C	c.(1066-1068)tTa>tCa	p.L356S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	356					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCTAAACCTTTATCTTCTAAG	0.308																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1066-1068)tTa>tCa		Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.							109	105	106					19																	33592467		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33592467T>C	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1067T>C	19.37:g.33592467T>C	ENSP00000170564:p.Leu356Ser		Somatic					p.L356S	NM_018025	NP_060495	WXS	Illumina GAIIx	Phase_I	Q9BRR8	GPTC1_HUMAN			8	1381	+	Esophageal squamous(110;0.137)		356					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1067T>C	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	T	5.798	0.331483	0.10956	.	.	ENSG00000076650	ENST00000170564	T	0.12774	2.65	5.64	4.62	0.57501	.	0.397513	0.28317	N	0.015793	T	0.06872	0.0175	N	0.20574	0.59	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.26815	-1.0092	10	0.09338	T	0.73	-13.0817	5.3243	0.15898	0.0:0.2264:0.0:0.7736	.	356	Q9BRR8	GPTC1_HUMAN	S	356	ENSP00000170564:L356S	ENSP00000170564:L356S	L	+	2	0	GPATCH1	38284307	0.985000	0.35326	1.000000	0.80357	0.991000	0.79684	2.197000	0.42696	2.278000	0.76064	0.523000	0.50628	TTA		0.308	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	93	0	0	0	1	0	3	93					C	33592467	T	C	33592467	3	2	60	1	0	0	0	0	1	0	0	0	6590	1764	61	3	1101	3	GPATCH1	19	33592467	Missense_Mutation	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08		33592467	25536516	17	1139											
OFD1	8481	broad.mit.edu	37	X	13778527	13778527	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:13778527A>T	ENST00000340096.6	+	16	2275	c.1948A>T	c.(1948-1950)Aga>Tga	p.R650*	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Nonsense_Mutation_p.R510*|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R610*	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	650	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAAGGCTTTCAGAAGTTACCA	0.478																																						uc004cvp.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1948-1950)Aga>Tga		Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.							74	71	72					X																	13778527		2203	4300	6503	SO:0001587	stop_gained	8481				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778527A>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1948A>T	X.37:g.13778527A>T	ENSP00000344314:p.Arg650*		Somatic				OFD1_uc004cvr.4_Nonsense_Mutation_p.R217*|OFD1_uc011mil.2_Nonsense_Mutation_p.R217*|OFD1_uc004cvq.4_Nonsense_Mutation_p.R510*|OFD1_uc010nen.3_Nonsense_Mutation_p.R649*|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Nonsense_Mutation_p.R609*|OFD1_uc004cvv.4_Nonsense_Mutation_p.R609*	p.R650*	NM_003611	NP_003602	WXS	Illumina GAIIx	Phase_I	O75665	OFD1_HUMAN			15	2307	+			650			Mediates homooligomerization.|Mediates the interaction with SDCCAG8.		B9ZVU5|O75666|Q4VAK4	Nonsense_Mutation	SNP	ENST00000340096.6	37	c.1948A>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	47	13.480964	0.99744	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	.	.	.	5.67	2.2	0.27929	.	0.217516	0.45606	D	0.000357	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9488	8.5217	0.33279	0.3763:0.5098:0.0:0.1139	.	.	.	.	X	610;650;510	.	ENSP00000344314:R650X	R	+	1	2	OFD1	13688448	0.994000	0.37717	0.002000	0.10522	0.906000	0.53458	2.282000	0.43461	0.053000	0.16036	0.430000	0.28490	AGA		0.478	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		42	138	0	0	0	1	0	42	138					T	13778527	A	T	13778527	4	4	60	1	0	0	0	0	0	1	0	0	10838	180	7	5	2010	5	OFD1	23	13778527	Nonsense_Mutation	SNP	A	TCGA-DJ-A13P-01A-11D-A10S-08		13778527	141492033	18	1140											
PHEX	5251	broad.mit.edu	37	X	22112115	22112115	+	Silent	SNP	T	T	G			TCGA-DJ-A13P-01A-11D-A10S-08	TCGA-DJ-A13P-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d67fb1e-4411-4aca-8d9a-f76dad5e03fb	541aed7f-ed74-4214-b7d3-85c7dc551738	g.chrX:22112115T>G	ENST00000379374.4	+	7	1312	c.747T>G	c.(745-747)ctT>ctG	p.L249L	PHEX_ENST00000535894.1_Silent_p.L152L|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Silent_p.L249L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	249					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGGATGCCCTTTACAAGTTCA	0.413																																						uc004dah.3																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(745-747)ctT>ctG		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.							174	159	164					X																	22112115		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22112115T>G	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.747T>G	X.37:g.22112115T>G			Somatic				PHEX_uc011mjr.2_Silent_p.L249L|PHEX_uc011mjs.2_Silent_p.L152L	p.L249L	NM_000444	NP_000435	WXS	Illumina GAIIx	Phase_I	P78562	PHEX_HUMAN			6	950	+			249					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.747T>G	CCDS14204.1																																																																																				0.413	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		23	233	0	0	0	1	0	23	233					G	22112115	T	G	22112115	2	3	60	1	0	0	0	0	0	0	0	1	11819	1828	64	5		5	PHEX	23	22112115	Silent	SNP	T	TCGA-DJ-A13P-01A-11D-A10S-08	8333588	22112115	133158445	19	1141											
C1orf216	127703	broad.mit.edu	37	1	36181503	36181503	+	Silent	SNP	G	G	A	rs377572339		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:36181503G>A	ENST00000270815.4	-	2	1190	c.420C>T	c.(418-420)ccC>ccT	p.P140P	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	140										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAAGGGGATCGGGAGGGCCAG	0.617											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzh.1																			0				kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8						c.(418-420)ccC>ccT		Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA.		G		0,4406		0,0,2203	103	104	104		420	-4.5	0.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf216	NM_152374.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		140/230	36181503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127703							g.chr1:36181503G>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.420C>T	1.37:g.36181503G>A			Somatic	OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	C1orf216_uc021oli.1_Silent_p.P140P	p.P140P	NM_152374	NP_689587	WXS	Illumina GAIIx	Phase_I	Q8TAB5	CA216_HUMAN			1	908	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	140					D3DPS1|Q8N8N6	Silent	SNP	ENST00000270815.4	37	c.420C>T	CCDS395.1																																																																																				0.617	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		7	198	0	0	0	1	0	7	198					A	36181503	G	A	36181503	2	1	61	1	0	0	0	0	0	0	0	1	2031	1103	39	1		1	C1orf216	1	36181503	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		36181503	213069118	1	1142											
SNX7	51375	broad.mit.edu	37	1	99161131	99161131	+	Missense_Mutation	SNP	G	G	T	rs201834277		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:99161131G>T	ENST00000306121.3	+	5	706	c.697G>T	c.(697-699)Gtc>Ttc	p.V233F	SNX7_ENST00000529992.1_Missense_Mutation_p.V178F|SNX7_ENST00000370189.5_Missense_Mutation_p.V169F	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	169					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGGGCAAACCGTCAGAGCTGT	0.403																																						uc010ouc.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(697-699)Gtc>Ttc		Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.							61	70	67					1																	99161131		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161131G>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.697G>T	1.37:g.99161131G>T	ENSP00000304429:p.Val233Phe		Somatic				SNX7_uc001dsa.3_Missense_Mutation_p.V169F|SNX7_uc010oud.2_Missense_Mutation_p.V178F	p.V233F	NM_015976	NP_057060	WXS	Illumina GAIIx	Phase_I	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	4	749	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	169					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.697G>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940974	0.52972	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.35605	1.35;1.99;1.3	5.66	5.66	0.87406	.	0.304718	0.35525	N	0.003159	T	0.44498	0.1296	M	0.68593	2.085	0.52099	D	0.999947	D;P;D	0.89917	1.0;0.885;0.979	D;P;P	0.79784	0.993;0.56;0.892	T	0.22871	-1.0204	10	0.16420	T	0.52	-15.7585	13.3367	0.60522	0.0724:0.0:0.9276:0.0	.	178;233;169	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	F	169;178;233	ENSP00000359208:V169F;ENSP00000434731:V178F;ENSP00000304429:V233F	ENSP00000304429:V233F	V	+	1	0	SNX7	98933719	1.000000	0.71417	0.954000	0.39281	0.136000	0.21042	5.411000	0.66386	2.826000	0.97356	0.655000	0.94253	GTC		0.403	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			33	75	0	0	0	1	0	33	75					T	99161131	G	T	99161131	3	4	61	1	0	0	0	0	1	0	0	0	14907	1145	40	4	715	4	SNX7	1	99161131	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	62979628	99161131	150089490	2	1143											
NPAS2	4862	broad.mit.edu	37	2	101592002	101592002	+	Silent	SNP	C	C	T	rs140730823		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr2:101592002C>T	ENST00000335681.5	+	14	1650	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	NPAS2_ENST00000542504.1_Silent_p.P520P|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	455					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						TACCTGTCCCCGGGCTCAGCC	0.612													C|||	1	0.000199681	0	0	5008	,	,		16170	0		0.001	False		,,,				2504	0					uc010yvt.1																			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.(1558-1560)ccC>ccT		Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.		C		0,4406		0,0,2203	81	81	81		1365	-11.4	0.0	2	dbSNP_134	81	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NPAS2	NM_002518.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		455/825	101592002	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:101592002C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1365C>T	2.37:g.101592002C>T			Somatic				NPAS2_uc002tap.1_Silent_p.P455P|NPAS2_uc010fit.1_Silent_p.P33P	p.P520P	NM_002518	NP_002509	WXS	Illumina GAIIx	Phase_I	Q99743	NPAS2_HUMAN			13	1562	+			455					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1560C>T	CCDS2048.1																																																																																				0.612	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			6	256	0	0	0	1	0	6	256					T	101592002	C	T	101592002	2	4	61	1	0	0	0	0	0	0	0	1	10563	639	23	1		1	NPAS2	2	101592002	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		101592002	141607371	3	1144											
SI	6476	broad.mit.edu	37	3	164741469	164741469	+	Silent	SNP	T	T	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr3:164741469T>A	ENST00000264382.3	-	26	3050	c.2988A>T	c.(2986-2988)acA>acT	p.T996T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	996	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGAGGTCAGCTGTTATACCCA	0.403										HNSCC(35;0.089)																												uc003fei.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2986-2988)acA>acT		Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	Acarbose(DB00284)						137	130	132					3																	164741469		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741469T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2988A>T	3.37:g.164741469T>A		HNSCC(35;0.089)	Somatic					p.T996T	NM_001041	NP_001032	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			25	3051	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	996			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2988A>T	CCDS3196.1																																																																																				0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		29	75	0	0	0	1	0	29	75					A	164741469	T	A	164741469	2	1	61	1	0	0	0	0	0	0	0	1	14297	1567	55	5		5	SI	3	164741469	Silent	SNP	T	TCGA-DJ-A13R-01A-11D-A10S-08		164741469	33280961	4	1145											
CLCN3	1182	broad.mit.edu	37	4	170628369	170628369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr4:170628369C>T	ENST00000513761.1	+	11	2660	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*	CLCN3_ENST00000504131.2_Nonsense_Mutation_p.Q684*|CLCN3_ENST00000347613.4_Nonsense_Mutation_p.Q701*|CLCN3_ENST00000360642.3_Nonsense_Mutation_p.Q674*	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	701	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAAAGAATCTCAGAGATTAGT	0.358																																						uc003ish.3																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(2101-2103)Cag>Tag		Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.							109	118	115					4																	170628369		2203	4300	6503	SO:0001587	stop_gained	1182				endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628369C>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2101C>T	4.37:g.170628369C>T	ENSP00000424603:p.Gln701*		Somatic				CLCN3_uc003isi.3_Nonsense_Mutation_p.Q701*|CLCN3_uc011cka.2_Nonsense_Mutation_p.Q674*|CLCN3_uc011cjz.2_Nonsense_Mutation_p.Q684*|CLCN3_uc003isj.2_Nonsense_Mutation_p.Q674*	p.Q701*	NM_173872	NP_776297	WXS	Illumina GAIIx	Phase_I	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2660	+		Prostate(90;0.00601)|Renal(120;0.0183)	701			CBS 1.		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Nonsense_Mutation	SNP	ENST00000513761.1	37	c.2101C>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	42	9.329091	0.99138	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-4.7654	19.817	0.96573	0.0:1.0:0.0:0.0	.	.	.	.	X	701;701;674;684;674	.	ENSP00000261514:Q701X	Q	+	1	0	CLCN3	170864944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.671000	0.68095	2.678000	0.91216	0.655000	0.94253	CAG		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			47	154	0	0	0	1	0	47	154					T	170628369	C	T	170628369	4	4	61	1	0	0	0	0	0	1	0	0	3464	827	29	2	2139	2	CLCN3	4	170628369	Nonsense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		170628369	20525907	5	1146											
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1996-1998)cCg>cTg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							153	149	150					5																	45262699		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262699G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1997C>T	5.37:g.45262699G>A	ENSP00000307342:p.Pro666Leu		Somatic					p.P666L	NM_021072	NP_066550	WXS	Illumina GAIIx	Phase_I	O60741	HCN1_HUMAN			7	2022	-			666						Missense_Mutation	SNP	ENST00000303230.4	37	c.1997C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906252	0.33628	.	.	ENSG00000164588	ENST00000303230	D	0.97404	-4.37	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000009	D	0.94928	0.8360	L	0.44542	1.39	0.58432	D	0.999998	B	0.20988	0.05	B	0.12837	0.008	D	0.92028	0.5631	10	0.28530	T	0.3	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	666	O60741	HCN1_HUMAN	L	666	ENSP00000307342:P666L	ENSP00000307342:P666L	P	-	2	0	HCN1	45298456	0.632000	0.27172	0.938000	0.37757	0.722000	0.41435	2.974000	0.49272	2.528000	0.85240	0.563000	0.77884	CCG		0.577	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		4	103	0	0	0	1	0	4	103					A	45262699	G	A	45262699	3	1	61	1	0	0	0	0	1	0	0	0	6996	1116	39	1	679	1	HCN1	5	45262699	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		45262699	135652561	6	1147											
KIF4B	285643	broad.mit.edu	37	5	154395057	154395057	+	Silent	SNP	C	C	T	rs191490719	byFrequency	TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:154395057C>T	ENST00000435029.4	+	1	1798	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	546					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)			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)			TGACTCAGAACGACAACCAAC	0.418													C|||	5	0.000998403	0	0.0043	5008	,	,		22175	0		0.002	False		,,,				2504	0					uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1636-1638)aaC>aaT		Homo sapiens kinesin family member 4B (KIF4B), mRNA.		C		0,4406		0,0,2203	72	72	72		1638	-3.0	0.0	5		72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KIF4B	NM_001099293.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		546/1235	154395057	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395057C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1638C>T	5.37:g.154395057C>T			Somatic					p.N546N	NM_001099293	NP_001092763	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	1798	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	546						Silent	SNP	ENST00000435029.4	37	c.1638C>T	CCDS47324.1																																																																																				0.418	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			22	50	0	0	0	1	0	22	50					T	154395057	C	T	154395057	2	4	61	1	0	0	0	0	0	0	0	1	8304	535	19	1		1	KIF4B	5	154395057	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	109132358	154395057	26520203	7	1148											
FAM50B	26240	broad.mit.edu	37	6	3850220	3850220	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr6:3850220G>A	ENST00000380274.1	+	1	601	c.175G>A	c.(175-177)Gag>Aag	p.E59K	FAM50B_ENST00000380272.3_Missense_Mutation_p.E59K			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	59						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGTGGAGGCCGAGCTGAAGTC	0.662																																						uc003mvu.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(175-177)Gag>Aag		Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.							49	48	49					6																	3850220		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850220G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.175G>A	6.37:g.3850220G>A	ENSP00000369627:p.Glu59Lys		Somatic				FAM50B_uc021ykt.1_Missense_Mutation_p.E59K	p.E59K	NM_012135	NP_036267	WXS	Illumina GAIIx	Phase_I	Q9Y247	FA50B_HUMAN			1	287	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	59					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.175G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228103	0.58777	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.43	4.43	0.53597	.	0.057577	0.64402	U	0.000002	T	0.30135	0.0755	L	0.55834	1.745	0.44619	D	0.997592	P	0.37525	0.598	B	0.29524	0.103	T	0.26258	-1.0108	9	0.08837	T	0.75	-32.7226	14.9294	0.70903	0.0:0.0:1.0:0.0	.	59	Q9Y247	FA50B_HUMAN	K	59	.	ENSP00000369625:E59K	E	+	1	0	FAM50B	3795219	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.098000	0.57748	2.462000	0.83206	0.561000	0.74099	GAG		0.662	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		15	30	0	0	0	1	0	15	30					A	3850220	G	A	3850220	3	1	61	1	0	0	0	0	1	0	0	0	5578	1059	37	1	177	1	FAM50B	6	3850220	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		3850220	167264847	8	1149											
C9orf86	55684	broad.mit.edu	37	9	139733836	139733836	+	Silent	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr9:139733836G>A	ENST00000311502.7	+	12	1892	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371675.3_Silent_p.S437S|RABL6_ENST00000371663.4_Silent_p.S553S			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	552					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AGGCCTCCTCGTCGGAGAGTG	0.642																																						uc004cjj.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(1657-1659)tcG>tcA		Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.							33	42	39					9																	139733836		2129	4251	6380	SO:0001819	synonymous_variant	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139733836G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1656G>A	9.37:g.139733836G>A			Somatic				C9orf86_uc004cji.1_Silent_p.S552S|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Silent_p.S437S|C9orf86_uc004cjn.1_Silent_p.S346S	p.S553S	NM_001173988	NP_001167459	WXS	Illumina GAIIx	Phase_I	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	11	2116	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	552					A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	c.1659G>A	CCDS48058.1																																																																																				0.642	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		6	32	0	0	0	1	0	6	32					A	139733836	G	A	139733836	2	1	61	1	0	0	0	0	0	0	0	1	2502	1132	40	1		1	C9orf86	9	139733836	Silent	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		139733836	1479595	9	1150											
ARRB1	408	broad.mit.edu	37	11	74979939	74979939	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr11:74979939G>A	ENST00000420843.2	-	14	1184	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	ARRB1_ENST00000360025.3_Missense_Mutation_p.R355W|ARRB1_ENST00000393505.4_Missense_Mutation_p.R363W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	363	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TCACCTTCCCGATGCGGGGGT	0.627																																						uc001owe.2																			0		p.T362R(2)		breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1087-1089)Cgg>Tgg		Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.							113	103	106					11																	74979939		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74979939G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1087C>T	11.37:g.74979939G>A	ENSP00000409581:p.Arg363Trp		Somatic				ARRB1_uc001owf.2_Missense_Mutation_p.R355W	p.R363W	NM_004041	NP_004032	WXS	Illumina GAIIx	Phase_I	P49407	ARRB1_HUMAN			13	1311	-			363			Interaction with TRAF6.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.1087C>T	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.39|17.39	3.377075|3.377075	0.61735|0.61735	.|.	.|.	ENSG00000137486|ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025|ENST00000532447	T;T;T|.	0.10763|.	2.84;2.84;2.84|.	4.58|4.58	3.64|3.64	0.41730|0.41730	Immunoglobulin E-set (1);Arrestin, C-terminal (1);|.	0.472640|.	0.17750|.	U|.	0.163262|.	T|T	0.33818|0.33818	0.0876|0.0876	N|N	0.08118|0.08118	0|0	0.37812|0.37812	D|D	0.928082|0.928082	D;P|.	0.63046|.	0.992;0.897|.	P;B|.	0.50970|.	0.655;0.17|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.87932|.	D|.	0|.	-2.2881|-2.2881	10.0213|10.0213	0.42044|0.42044	0.1003:0.0:0.8997:0.0|0.1003:0.0:0.8997:0.0	.|.	355;363|.	P49407-2;P49407|.	.;ARRB1_HUMAN|.	W|L	363;363;355|179	ENSP00000409581:R363W;ENSP00000377141:R363W;ENSP00000353124:R355W|.	ENSP00000353124:R355W|.	R|S	-|-	1|2	2|0	ARRB1|ARRB1	74657587|74657587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.792000|0.792000	0.44763|0.44763	2.389000|2.389000	0.44407|0.44407	2.277000|2.277000	0.76020|0.76020	0.550000|0.550000	0.68814|0.68814	CGG|TCG		0.627	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		49	108	0	0	0	1	0	49	108					A	74979939	G	A	74979939	3	1	61	1	0	0	0	0	1	0	0	0	980	1057	37	1	181	1	ARRB1	11	74979939	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		74979939	60026577	10	1151											
IRAK4	51135	broad.mit.edu	37	12	44172022	44172022	+	Silent	SNP	C	C	T			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:44172022C>T	ENST00000448290.2	+	8	929	c.858C>T	c.(856-858)caC>caT	p.H286H	IRAK4_ENST00000551736.1_Silent_p.H286H|IRAK4_ENST00000440781.2_Silent_p.H162H|IRAK4_ENST00000431837.1_Silent_p.H162H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTTCTTGGCACATGAGATGCA	0.303																																						uc001rnu.3																			0											c.(856-858)caC>caT		Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.							70	69	70					12																	44172022		2203	4300	6503	SO:0001819	synonymous_variant	51135				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44172022C>T	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.858C>T	12.37:g.44172022C>T			Somatic				IRAK4_uc001rnt.3_Silent_p.H286H|IRAK4_uc001rnx.3_Silent_p.H162H|IRAK4_uc001rny.3_Silent_p.H162H|IRAK4_uc010sky.1_Silent_p.H162H|IRAK4_uc001rnv.3_Silent_p.H162H|IRAK4_uc001rnw.3_Silent_p.H162H	p.H286H	NM_001114182	NP_001138730	WXS	Illumina GAIIx	Phase_I	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	8	988	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	286			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	ENST00000448290.2	37	c.858C>T	CCDS8744.1																																																																																				0.303	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			25	73	0	0	0	1	0	25	73					T	44172022	C	T	44172022	2	4	61	1	0	0	0	0	0	0	0	1	7825	477	17	2		2	IRAK4	12	44172022	Silent	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		44172022	89679873	11	1152											
GCN1L1	10985	broad.mit.edu	37	12	120589045	120589045	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:120589045C>G	ENST00000300648.6	-	34	4225	c.4213G>C	c.(4213-4215)Gtg>Ctg	p.V1405L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1405					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCCTTCACCAGGCCCGCC	0.602																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4213-4215)Gtg>Ctg		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							50	56	54					12																	120589045		2146	4249	6395	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120589045C>G	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4213G>C	12.37:g.120589045C>G	ENSP00000300648:p.Val1405Leu		Somatic					p.V1405L	NM_006836	NP_006827	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			33	4226	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1405					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4213G>C	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383151	0.82792	.	.	ENSG00000089154	ENST00000300648	T	0.63744	-0.06	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	M	0.84683	2.71	0.80722	D	1	D	0.61080	0.989	P	0.58970	0.849	D	0.83425	0.0035	10	0.72032	D	0.01	-21.2775	18.9124	0.92491	0.0:1.0:0.0:0.0	.	1405	Q92616	GCN1L_HUMAN	L	1405	ENSP00000300648:V1405L	ENSP00000300648:V1405L	V	-	1	0	GCN1L1	119073428	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.583000	0.82559	2.490000	0.84030	0.561000	0.74099	GTG		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			5	98	0	0	0	1	0	5	98					G	120589045	C	G	120589045	3	3	61	1	0	0	0	0	1	0	0	0	6299	507	18	4	3902	4	GCN1L1	12	120589045	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	76417023	120589045	13262850	12	1153											
ZC3H13	23091	broad.mit.edu	37	13	46563027	46563027	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr13:46563027T>C	ENST00000242848.4	-	9	1498	c.1150A>G	c.(1150-1152)Aga>Gga	p.R384G	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R384G			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	384	Arg/Ser-rich.						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)		CTCTGCTTTCTCTGGGGAGAC	0.483																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			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.(1150-1152)Aga>Gga		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							139	122	128					13																	46563027		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46563027T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1150A>G	13.37:g.46563027T>C	ENSP00000242848:p.Arg384Gly		Somatic				ZC3H13_uc001vas.1_Missense_Mutation_p.R384G|ZC3H13_uc001vat.1_Missense_Mutation_p.R384G	p.R384G	NM_015070	NP_055885	WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	7	1156	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	384			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1150A>G		.	.	.	.	.	.	.	.	.	.	T	12.73	2.025111	0.35701	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.45276	2.06;0.9	6.03	4.84	0.62591	.	0.000000	0.64402	D	0.000002	T	0.37598	0.1009	L	0.36672	1.1	0.80722	D	1	P;P	0.41848	0.651;0.763	B;B	0.42282	0.212;0.382	T	0.20571	-1.0271	10	0.62326	D	0.03	.	12.682	0.56926	0.0:0.0:0.2599:0.7401	.	384;384	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	G	384;384;200	ENSP00000242848:R384G;ENSP00000282007:R384G	ENSP00000242848:R384G	R	-	1	2	ZC3H13	45461028	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	1.659000	0.37387	1.073000	0.40885	0.533000	0.62120	AGA		0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	56	0	0	0	1	0	5	56					C	46563027	T	C	46563027	3	2	61	1	0	0	0	0	1	0	0	0	17562	1559	54	3	3580	3	ZC3H13	13	46563027	Missense_Mutation	SNP	T	TCGA-DJ-A13R-01A-11D-A10S-08		46563027	68606851	13	1154											
ATL1	51062	broad.mit.edu	37	14	51054695	51054695	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:51054695G>A	ENST00000358385.6	+	2	422	c.181G>A	c.(181-183)Gct>Act	p.A61T	ATL1_ENST00000441560.2_Missense_Mutation_p.A61T|ATL1_ENST00000357032.3_Missense_Mutation_p.A61T|ATL1_ENST00000354525.4_Missense_Mutation_p.A61T	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	61					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCTCTCGGAGGCTGTCAGAGA	0.433																																						uc021rsw.1																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(181-183)Gct>Act		Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.							192	174	180					14																	51054695		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51054695G>A	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.181G>A	14.37:g.51054695G>A	ENSP00000351155:p.Ala61Thr		Somatic				ATL1_uc001wyd.4_Missense_Mutation_p.A61T|ATL1_uc001wyf.4_Missense_Mutation_p.A61T|ATL1_uc001wye.4_Missense_Mutation_p.A61T|ATL1_uc021rsx.1_Missense_Mutation_p.A61T	p.A61T	NM_015915	NP_056999	WXS	Illumina GAIIx	Phase_I	Q8WXF7	ATLA1_HUMAN			1	422	+			61					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.181G>A	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748770	0.49257	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	6.02	5.12	0.69794	Guanylate-binding protein, N-terminal (1);	0.051252	0.85682	D	0.000000	T	0.63498	0.2516	L	0.27053	0.805	0.48185	D	0.999606	B;B	0.19706	0.038;0.015	B;B	0.21546	0.035;0.02	T	0.57670	-0.7771	10	0.19147	T	0.46	-10.6193	16.438	0.83884	0.0:0.1313:0.8687:0.0	.	61;61	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	T	61	ENSP00000413675:A61T;ENSP00000452506:A61T;ENSP00000351155:A61T;ENSP00000349534:A61T;ENSP00000346522:A61T	ENSP00000346522:A61T	A	+	1	0	ATL1	50124445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.980000	0.56895	1.550000	0.49438	0.650000	0.86243	GCT		0.433	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			6	278	0	0	0	1	0	6	278					A	51054695	G	A	51054695	3	1	61	1	0	0	0	0	1	0	0	0	1106	1203	42	2	187	2	ATL1	14	51054695	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		51054695	56294845	14	1155											
SYNE2	23224	broad.mit.edu	37	14	64678781	64678781	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:64678781G>C	ENST00000344113.4	+	104	19038	c.18826G>C	c.(18826-18828)Gag>Cag	p.E6276Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.E2661Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E154Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2910Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6276Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2661Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6235Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E59Q|SYNE2_ENST00000458046.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6276					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)			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)		GCACTTCTCAGAGAGTGACGC	0.542																																						uc001xgl.3																			0				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.(18826-18828)Gag>Cag		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							140	131	134					14																	64678781		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64678781G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18826G>C	14.37:g.64678781G>C	ENSP00000341781:p.Glu6276Gln		Somatic				SYNE2_uc001xgm.3_Missense_Mutation_p.E6276Q|SYNE2_uc010apy.3_Missense_Mutation_p.E2661Q|SYNE2_uc001xgn.3_Missense_Mutation_p.E1238Q|SYNE2_uc021rui.1_Missense_Mutation_p.E1280Q|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E246Q|SYNE2_uc001xgq.3_Missense_Mutation_p.E641Q|SYNE2_uc001xgr.3_Missense_Mutation_p.E59Q|SYNE2_uc010tsi.2_5'Flank|SYNE2_uc001xgs.3_5'Flank	p.E6276Q	NM_182914	NP_878918	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	103	19056	+			6276					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18826G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640026	0.47153	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.33	5.33	0.75918	.	0.127117	0.34802	N	0.003674	T	0.50292	0.1607	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.63046	0.883;0.756;0.992;0.879;0.979	P;B;P;P;P	0.57720	0.644;0.285;0.826;0.676;0.784	T	0.50363	-0.8837	10	0.66056	D	0.02	.	13.1763	0.59629	0.0835:0.0:0.9165:0.0	.	2661;664;6235;6276;6276	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6276;2661;6276;6235;6241;2910;2661;154;59	ENSP00000350719:E6276Q;ENSP00000349969:E2661Q;ENSP00000341781:E6276Q;ENSP00000452570:E6235Q;ENSP00000450831:E2910Q;ENSP00000378249:E2661Q;ENSP00000451009:E154Q;ENSP00000450605:E59Q	ENSP00000261678:E6241Q	E	+	1	0	SYNE2	63748534	1.000000	0.71417	0.964000	0.40570	0.807000	0.45602	6.476000	0.73587	2.654000	0.90174	0.561000	0.74099	GAG		0.542	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	197	0	0	0	1	0	4	197					C	64678781	G	C	64678781	3	2	61	1	0	0	0	0	1	0	0	0	15443	943	33	4	19236	4	SYNE2	14	64678781	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	13624086	64678781	42670759	15	1156											
GALNTL1	57452	broad.mit.edu	37	14	69795278	69795278	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:69795278G>A	ENST00000337827.4	+	6	1007	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	GALNT16_ENST00000448469.3_Missense_Mutation_p.R227Q|GALNT16_ENST00000553669.1_Missense_Mutation_p.R227Q	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	227	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATGCTGCAGCGGGTGAAGGAG	0.622																																						uc001xlb.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24						c.(679-681)cGg>cAg		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.							62	61	61					14																	69795278		2202	4300	6502	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69795278G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.680G>A	14.37:g.69795278G>A	ENSP00000336729:p.Arg227Gln		Somatic				GALNTL1_uc001xla.2_Missense_Mutation_p.R227Q|GALNTL1_uc010aqu.2_Missense_Mutation_p.R227Q	p.R227Q	NM_020692	NP_065743	WXS	Illumina GAIIx	Phase_I	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	5	1007	+			227			Catalytic subdomain A.		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.680G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283848	0.95489	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.61627	0.09;0.09;0.09	5.59	4.7	0.59300	Glycosyl transferase, family 2 (1);	0.050258	0.85682	D	0.000000	T	0.63177	0.2489	M	0.79123	2.44	0.80722	D	1	D;D	0.71674	0.991;0.998	B;P	0.45753	0.235;0.492	T	0.70872	-0.4754	10	0.87932	D	0	.	13.8954	0.63768	0.0739:0.0:0.9261:0.0	.	227;227	Q8N428;Q58A55	GLTL1_HUMAN;.	Q	227	ENSP00000336729:R227Q;ENSP00000402970:R227Q;ENSP00000451200:R227Q	ENSP00000336729:R227Q	R	+	2	0	GALNTL1	68865031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.095000	0.94175	1.366000	0.46076	0.563000	0.77884	CGG		0.622	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		24	62	0	0	0	1	0	24	62					A	69795278	G	A	69795278	3	1	61	1	0	0	0	0	1	0	0	0	6221	1116	39	1	702	1	GALNTL1	14	69795278	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08	5116497	69795278	37554262	16	1157											
MYH13	8735	broad.mit.edu	37	17	10209906	10209906	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:10209906G>A	ENST00000418404.3	-	36	5499	c.5336C>T	c.(5335-5337)aCc>aTc	p.T1779I	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1779I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1779					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGGGCGCTGGTGTCCTGTTC	0.592																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5335-5337)aCc>aTc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							101	100	100					17																	10209906		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10209906G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5336C>T	17.37:g.10209906G>A	ENSP00000404570:p.Thr1779Ile		Somatic					p.T1779I	NM_003802	NP_003793	WXS	Illumina GAIIx	Phase_I	Q9UKX3	MYH13_HUMAN			36	5426	-			1779					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5336C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598954	0.87055	.	.	ENSG00000006788	ENST00000252172	T	0.78003	-1.14	4.35	4.35	0.52113	Myosin tail (1);	.	.	.	.	D	0.90075	0.6900	H	0.95574	3.69	0.49213	D	0.999769	P	0.44816	0.844	P	0.55749	0.783	D	0.92652	0.6134	9	0.56958	D	0.05	.	17.4414	0.87566	0.0:0.0:1.0:0.0	.	1779	Q9UKX3	MYH13_HUMAN	I	1779	ENSP00000252172:T1779I	ENSP00000252172:T1779I	T	-	2	0	MYH13	10150631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.610000	0.98337	2.417000	0.82017	0.591000	0.81541	ACC		0.592	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		26	129	0	0	0	1	0	26	129					A	10209906	G	A	10209906	3	1	61	1	0	0	0	0	1	0	0	0	10032	1261	44	2	500	2	MYH13	17	10209906	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		10209906	70985304	17	1158											
CD300LF	146722	broad.mit.edu	37	17	72692351	72692351	+	Missense_Mutation	SNP	C	C	T	rs149416788		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72692351C>T	ENST00000326165.6	-	5	676	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000301573.9_Missense_Mutation_p.R204Q|CD300LF_ENST00000581500.1_Intron|CD300LF_ENST00000361254.4_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.G192R|CD300LF_ENST00000469092.1_Missense_Mutation_p.R154Q|CD300LF_ENST00000343125.4_Missense_Mutation_p.R154Q|CD300LF_ENST00000583937.1_Missense_Mutation_p.G204R|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	189					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGACATCCCGGCTGCTAAA	0.493																																						uc010wra.2																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(610-612)Ggg>Agg		Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.		C	ARG/GLY,	0,4406		0,0,2203	103	110	108		565,	3.9	0.0	17	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CD300LF,RAB37	NM_139018.3,NM_175738.4	125,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	189/291,	72692351	1,13005	2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72692351C>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"Immunoglobulin superfamily / V-set domain containing"	29883	protein-coding gene	gene with protein product		609807	"CD300 antigen like family member F"			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.565G>A	17.37:g.72692351C>T	ENSP00000327075:p.Gly189Arg		Somatic				RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.G192R|CD300LF_uc010dfw.3_Intron|CD300LF_uc002jlg.3_Missense_Mutation_p.G189R|CD300LF_uc002jlh.3_Missense_Mutation_p.R204Q|CD300LF_uc002jli.3_Missense_Mutation_p.R154Q|CD300LF_uc002jlj.1_Intron	p.G204R	NM_139018	NP_620587	WXS	Illumina GAIIx	Phase_I	Q8TDQ1	CLM1_HUMAN			4	713	-			189					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.610G>A	CCDS11704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.499|8.499	0.863862|0.863862	0.17250|0.17250	0.0|0.0	1.16E-4|1.16E-4	ENSG00000186074|ENSG00000186074	ENST00000326165|ENST00000301573;ENST00000343125	T|T;T	0.42513|0.08807	0.97|3.05;3.64	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	2.329780|.	0.02034|.	N|.	0.048779|.	T|T	0.07728|0.07728	0.0194|0.0194	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	D;D;D|B;P	0.56035|0.42248	0.974;0.974;0.961|0.09;0.774	P;P;P|B;B	0.46076|0.25759	0.499;0.499;0.503|0.016;0.063	T|T	0.27536|0.27536	-1.0071|-1.0071	10|9	0.72032|0.22706	D|T	0.01|0.39	.|.	11.6348|11.6348	0.51198|0.51198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	204;189;192|154;204	E7EME0;Q8TDQ1;Q8TDQ1-6|Q8TDQ1-4;Q8TDQ1-5	.;CLM1_HUMAN;.|.;.	R|Q	189|204;154	ENSP00000327075:G189R|ENSP00000301573:R204Q;ENSP00000343751:R154Q	ENSP00000327075:G189R|ENSP00000301573:R204Q	G|R	-|-	1|2	0|0	CD300LF|CD300LF	70203946|70203946	0.050000|0.050000	0.20438|0.20438	0.011000|0.011000	0.14972|0.14972	0.003000|0.003000	0.03518|0.03518	2.682000|2.682000	0.46934|0.46934	2.467000|2.467000	0.83353|0.83353	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.493	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		5	211	0	0	0	1	0	5	211					T	72692351	C	T	72692351	3	4	61	1	0	0	0	0	1	0	0	0	3001	652	23	1	319	1	CD300LF	17	72692351	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	62482445	72692351	8502859	18	1159											
FADS6	283985	broad.mit.edu	37	17	72874555	72874555	+	Missense_Mutation	SNP	C	C	T	rs145096183		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72874555C>T	ENST00000310226.6	-	6	972	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	326					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TATGAGTCCTCGTTGTACGGT	0.587													C|||	1	0.000199681	0	0	5008	,	,		19666	0		0.001	False		,,,				2504	0					uc002jmd.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(958-960)Gag>Aag		Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.							94	98	97					17																	72874555		2063	4176	6239	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72874555C>T	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.958G>A	17.37:g.72874555C>T	ENSP00000307821:p.Glu320Lys		Somatic				FADS6_uc010wrn.1_Missense_Mutation_p.E174K	p.E320K	NM_178128	NP_835229	WXS	Illumina GAIIx	Phase_I	Q8N9I5	FADS6_HUMAN			5	970	-	all_lung(278;0.172)|Lung NSC(278;0.207)		326					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.958G>A	CCDS54163.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.6	4.022747	0.75275	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.17370	2.28	5.49	4.5	0.54988	Fatty acid desaturase, type 1 (1);	0.052904	0.64402	D	0.000001	T	0.31827	0.0809	M	0.72894	2.215	0.47584	D	0.999462	P;D	0.63046	0.934;0.992	P;P	0.52856	0.585;0.711	T	0.08330	-1.0727	10	0.29301	T	0.29	-1.0603	16.0906	0.81088	0.0:0.8658:0.1342:0.0	.	174;326	B4DEP0;Q8N9I5	.;FADS6_HUMAN	K	320;174	ENSP00000307821:E320K	ENSP00000307821:E320K	E	-	1	0	FADS6	70386150	0.999000	0.42202	0.975000	0.42487	0.037000	0.13140	4.135000	0.57997	1.281000	0.44480	0.655000	0.94253	GAG		0.587	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			20	65	0	0	0	1	0	20	65					T	72874555	C	T	72874555	3	4	61	1	0	0	0	0	1	0	0	0	5368	893	31	1	98	1	FADS6	17	72874555	Missense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08	182204	72874555	8320655	19	1160											
CEP192	55125	broad.mit.edu	37	18	13068880	13068880	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr18:13068880G>A	ENST00000325971.8	+	23	4657	c.3064G>A	c.(3064-3066)Gca>Aca	p.A1022T	CEP192_ENST00000430049.2_Missense_Mutation_p.A1143T|CEP192_ENST00000506447.1_Missense_Mutation_p.A1618T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1022					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						AGAATTCTCGGCAAAAGTTGA	0.438																																						uc010xac.2																			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.(4852-4854)Gca>Aca		Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.							92	93	92					18																	13068880		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13068880G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3064G>A	18.37:g.13068880G>A	ENSP00000317156:p.Ala1022Thr		Somatic				CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.A1143T|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.A40T	p.A1618T	NM_032142	NP_115518	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			24	4932	+			1213					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4852G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.220221	0.79464	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.60424	0.19;0.19;0.19	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.981;0.992;0.971	T	0.77338	-0.2625	10	0.72032	D	0.01	-22.7992	20.3473	0.98799	0.0:0.0:1.0:0.0	.	1143;1618;220	C9JT09;E9PF99;Q9HCK3	.;.;.	T	1618;1022;1022;1143	ENSP00000427550:A1618T;ENSP00000317156:A1022T;ENSP00000389190:A1143T	ENSP00000317156:A1022T	A	+	1	0	CEP192	13058880	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	8.619000	0.90938	2.884000	0.98904	0.655000	0.94253	GCA		0.438	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		4	156	0	0	0	1	0	4	156					A	13068880	G	A	13068880	3	1	61	1	0	0	0	0	1	0	0	0	3251	1203	42	2	4946	2	CEP192	18	13068880	Missense_Mutation	SNP	G	TCGA-DJ-A13R-01A-11D-A10S-08		13068880	65008368	20	1161											
ARFGEF2	10564	broad.mit.edu	37	20	47611021	47611021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr20:47611021C>T	ENST00000371917.4	+	22	3007	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1003					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q1003E(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGAGCTCGCTCAGCTGATAGG	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			1	Substitution - Missense(1)	p.Q1003E(2)	lung(1)	breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3007-3009)Cag>Tag		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							71	66	68					20																	47611021		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	g.chr20:47611021C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3007C>T	20.37:g.47611021C>T	ENSP00000360985:p.Gln1003*		Somatic				ARFGEF2_uc010zyf.2_Nonsense_Mutation_p.Q296*	p.Q1003*	NM_006420	NP_006411	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		21	3159	+			1003					Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.3007C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	41	8.774711	0.98950	.	.	ENSG00000124198	ENST00000371917	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	ENSP00000360985:Q1003X	Q	+	1	0	ARFGEF2	47044428	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	CAG		0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		20	66	0	0	0	1	0	20	66					T	47611021	C	T	47611021	4	4	61	1	0	0	0	0	0	1	0	0	853	827	29	2	3093	2	ARFGEF2	20	47611021	Nonsense_Mutation	SNP	C	TCGA-DJ-A13R-01A-11D-A10S-08		47611021	15414499	21	1162											
MECP2	4204	broad.mit.edu	37	X	153363113	153363113	+	5'UTR	DEL	C	C	-			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chrX:153363113delC	ENST00000303391.6	-	0	99				MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000453960.2_Frame_Shift_Del_p.A8fs	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|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)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gcggcggcggcggcggcCATT	0.776																																						uc004fjw.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(10-12)gccfs		Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA.							4	5	5					X																	153363113		900	2350	3250	SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity	g.chrX:153363113delC	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-151G>-	X.37:g.153363113delC			Somatic				MECP2_uc004fjv.2_5'UTR	p.A4fs	NM_001110792	NP_001104262	WXS	Illumina GAIIx	Phase_I	P51608	MECP2_HUMAN			0	76	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	Frame_Shift_Del	DEL	ENST00000303391.6	37	c.10delG	CCDS14741.1																																																																																				0.776	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		2	4						2	4	---	---	---	---	-	153363113	C	-	153363113	6	5	61	0	1	1	0	1	0	0	0	0	9423	768	27	0		0	MECP2	23	153363113	5'UTR	DEL	C	TCGA-DJ-A13R-01A-11D-A10S-08		153363113	1907447	22	1163											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		124	186	0	0	0	1	0	124	186					C	115256529	T	C	115256529	3	2	62	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A13S-01A-11D-A10S-08		115256529	133994092	1	1164											
CEP350	9857	broad.mit.edu	37	1	180010893	180010893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr1:180010893G>T	ENST00000367607.3	+	19	4736	c.4318G>T	c.(4318-4320)Gaa>Taa	p.E1440*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1440					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCAGTCAGAAACTGCTCG	0.458																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4318-4320)Gaa>Taa		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							57	52	54					1																	180010893		2203	4300	6503	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:180010893G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4318G>T	1.37:g.180010893G>T	ENSP00000356579:p.Glu1440*		Somatic				CEP350_uc009wxl.2_Nonsense_Mutation_p.E1439*	p.E1440*	NM_014810	NP_055625	WXS	Illumina GAIIx	Phase_I	Q5VT06	CE350_HUMAN			18	4701	+			1440					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.4318G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.20|17.20	3.330215|3.330215	0.60743|0.60743	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000418229	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.47852|.	D|.	0.000219|.	.|T	.|0.74191	.|0.3684	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72184	.|-0.4367	.|3	.|.	.|.	.|.	.|.	17.6537|17.6537	0.88172|0.88172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1440|48	.|.	.|.	E|R	+|+	1|2	0|0	CEP350|CEP350	178277516|178277516	1.000000|1.000000	0.71417|0.71417	0.843000|0.843000	0.33291|0.33291	0.154000|0.154000	0.21943|0.21943	7.625000|7.625000	0.83145|0.83145	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.458	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	31	0	0	0	1	0	3	31					T	180010893	G	T	180010893	4	4	62	1	0	0	0	0	0	1	0	0	3254	943	33	4	4388	4	CEP350	1	180010893	Nonsense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	64754364	180010893	69239728	2	1165											
SH2D6	284948	broad.mit.edu	37	2	85663607	85663607	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:85663607G>A	ENST00000340326.2	+	4	591	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	SH2D6_ENST00000481426.2_3'UTR|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Missense_Mutation_p.A112T	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	144	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CTCCGTGGCGGCCATGGTCCA	0.632																																						uc002spq.3																			0				central_nervous_system(1)|lung(2)	3						c.(430-432)Gcc>Acc		Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.							62	55	57					2																	85663607		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85663607G>A	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.430G>A	2.37:g.85663607G>A	ENSP00000341867:p.Ala144Thr		Somatic				SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript	p.A144T	NM_198482	NP_940884	WXS	Illumina GAIIx	Phase_I	Q7Z4S9	SH2D6_HUMAN			3	591	+			144			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.430G>A	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	8.039	0.763534	0.15914	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	D;D	0.92805	-2.41;-3.11	5.25	2.46	0.29980	SH2 motif (4);	0.204092	0.31709	N	0.007183	D	0.88040	0.6330	L	0.49455	1.56	0.21915	N	0.999479	B	0.12630	0.006	B	0.14578	0.011	T	0.77125	-0.2703	10	0.46703	T	0.11	-14.1996	10.2025	0.43094	0.2443:0.0:0.7557:0.0	.	144	Q7Z4S9	SH2D6_HUMAN	T	112;144	ENSP00000374588:A112T;ENSP00000341867:A144T	ENSP00000341867:A144T	A	+	1	0	SH2D6	85517118	0.770000	0.28543	0.148000	0.22405	0.068000	0.16541	0.868000	0.27982	0.065000	0.16485	-1.134000	0.01955	GCC		0.632	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		4	70	0	0	0	1	0	4	70					A	85663607	G	A	85663607	3	1	62	1	0	0	0	0	1	0	0	0	14238	1203	42	2	444	2	SH2D6	2	85663607	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		85663607	157535766	3	1166											
XIRP2	129446	broad.mit.edu	37	2	168105213	168105213	+	Silent	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr2:168105213G>A	ENST00000409195.1	+	9	7400	c.7311G>A	c.(7309-7311)aaG>aaA	p.K2437K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K2215K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.K2437K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2262					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATAATAAGAACGATTTTT	0.403																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7309-7311)aaG>aaA		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							86	88	87					2																	168105213		1833	4087	5920	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105213G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7311G>A	2.37:g.168105213G>A			Somatic				XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2262K|XIRP2_uc010fpq.3_Silent_p.K2215K|XIRP2_uc010fpr.3_Intron	p.K2437K	NM_152381	NP_689594	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			8	7400	+			2262					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7311G>A	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		47	94	0	0	0	1	0	47	94					A	168105213	G	A	168105213	2	1	62	1	0	0	0	0	0	0	0	1	17427	933	33	2		2	XIRP2	2	168105213	Silent	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	82441606	168105213	75094160	4	1167											
BOC	91653	broad.mit.edu	37	3	112993298	112993298	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr3:112993298C>A	ENST00000495514.1	+	9	2015	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	BOC_ENST00000273395.4_Missense_Mutation_p.N437K|BOC_ENST00000355385.3_Missense_Mutation_p.N437K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	437					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACTCGGCAACCCTGAGCAGA	0.632																																						uc003dzz.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1309-1311)aaC>aaA		Homo sapiens Boc homolog (mouse) (BOC), mRNA.							62	57	59					3																	112993298		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112993298C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1311C>A	3.37:g.112993298C>A	ENSP00000418663:p.Asn437Lys		Somatic				BOC_uc003dzx.3_Missense_Mutation_p.N437K|BOC_uc003dzy.3_Missense_Mutation_p.N437K|BOC_uc003eab.3_Missense_Mutation_p.N138K	p.N437K	NM_033254	NP_150279	WXS	Illumina GAIIx	Phase_I	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		8	1650	+			437					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1311C>A	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	0.795	-0.757427	0.03019	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.58358	0.34;0.35;0.34	5.62	3.78	0.43462	.	0.866420	0.10452	N	0.673001	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.16722	0.016;0.007	T	0.24977	-1.0145	10	0.23302	T	0.38	.	8.1435	0.31097	0.1328:0.728:0.0:0.1392	.	437;437	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	K	437	ENSP00000418663:N437K;ENSP00000273395:N437K;ENSP00000347546:N437K	ENSP00000273395:N437K	N	+	3	2	BOC	114475988	0.668000	0.27493	0.614000	0.29051	0.022000	0.10575	0.176000	0.16782	0.687000	0.31509	0.563000	0.77884	AAC		0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		14	135	0	0	0	1	0	14	135					A	112993298	C	A	112993298	3	1	62	1	0	0	0	0	1	0	0	0	1481	506	18	4	1337	4	BOC	3	112993298	Missense_Mutation	SNP	C	TCGA-DJ-A13S-01A-11D-A10S-08		112993298	85029132	5	1168											
PTPN13	5783	broad.mit.edu	37	4	87662917	87662917	+	Missense_Mutation	SNP	G	G	A	rs368764035		TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr4:87662917G>A	ENST00000411767.2	+	16	2498	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	PTPN13_ENST00000436978.1_Missense_Mutation_p.R812H|PTPN13_ENST00000511467.1_Missense_Mutation_p.R812H|PTPN13_ENST00000427191.2_Missense_Mutation_p.R812H|PTPN13_ENST00000316707.6_Missense_Mutation_p.R812H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	812	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AATGGAGTGCGCACATTGGTC	0.388																																						uc003hpy.3																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2434-2436)cGc>cAc		Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 4, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3865		0,1,1932	128	122	124		2435,2435,2435,2435	5.7	1.0	4		124	0,8268		0,0,4134	no	missense,missense,missense,missense	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	29,29,29,29	0,1,6066	AA,AG,GG		0.0,0.0259,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	812/2467,812/2486,812/2295,812/2491	87662917	1,12133	1933	4134	6067	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87662917G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2435G>A	4.37:g.87662917G>A	ENSP00000407249:p.Arg812His		Somatic				PTPN13_uc003hpz.3_Missense_Mutation_p.R812H|PTPN13_uc003hqa.3_Missense_Mutation_p.R812H|PTPN13_uc003hqb.3_Missense_Mutation_p.R812H	p.R812H	NM_080685	NP_542416	WXS	Illumina GAIIx	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	15	2915	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	812			FERM.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2435G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402688	0.96030	2.59E-4	0.0	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.73	5.73	0.89815	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.45606	D	0.000345	D	0.91975	0.7458	M	0.79693	2.465	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;1.0;1.0	D	0.92333	0.5875	10	0.87932	D	0	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	812;812;812;812	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	812;812;812;812;812;780	ENSP00000408368:R812H;ENSP00000394794:R812H;ENSP00000322675:R812H;ENSP00000407249:R812H;ENSP00000426626:R812H	ENSP00000322675:R812H	R	+	2	0	PTPN13	87881941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	CGC		0.388	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			3	36	0	0	0	1	0	3	36					A	87662917	G	A	87662917	3	1	62	1	0	0	0	0	1	0	0	0	12782	1087	38	1	2493	1	PTPN13	4	87662917	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		87662917	103491359	6	1169											
RAB3C	115827	broad.mit.edu	37	5	58120914	58120914	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:58120914G>T	ENST00000282878.4	+	4	590	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	141					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTATTCTGGTTGGGAACAA	0.398																																						uc003jrp.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(421-423)Gtt>Ttt		Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.							110	99	103					5																	58120914		2203	4300	6503	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:58120914G>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.421G>T	5.37:g.58120914G>T	ENSP00000282878:p.Val141Phe		Somatic					p.V141F	NM_138453	NP_612462	WXS	Illumina GAIIx	Phase_I	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	3	518	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	141						Missense_Mutation	SNP	ENST00000282878.4	37	c.421G>T	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432033	0.96150	.	.	ENSG00000152932	ENST00000282878	D	0.84730	-1.89	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.198425	0.33631	N	0.004710	D	0.94248	0.8153	M	0.90198	3.095	0.58432	D	0.999999	D	0.71674	0.998	D	0.75020	0.985	D	0.94165	0.7418	10	0.87932	D	0	-9.2929	20.8598	0.99761	0.0:0.0:1.0:0.0	.	141	Q96E17	RAB3C_HUMAN	F	141	ENSP00000282878:V141F	ENSP00000282878:V141F	V	+	1	0	RAB3C	58156671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.832000	0.99423	2.937000	0.99478	0.650000	0.86243	GTT		0.398	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		37	65	0	0	0	1	0	37	65					T	58120914	G	T	58120914	3	4	62	1	0	0	0	0	1	0	0	0	12933	1261	44	4	435	4	RAB3C	5	58120914	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		58120914	122794346	7	1170											
MATR3	9782	broad.mit.edu	37	5	138643173	138643173	+	Silent	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr5:138643173G>A	ENST00000394805.3	+	2	404	c.69G>A	c.(67-69)gcG>gcA	p.A23A	MATR3_ENST00000502929.1_Silent_p.A23A|MATR3_ENST00000361059.2_Silent_p.A23A|MATR3_ENST00000509990.1_Silent_p.A23A|MATR3_ENST00000510056.1_Silent_p.A23A|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Silent_p.A23A|MATR3_ENST00000503811.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	23					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCTGTCTGCGGCAGGAATAG	0.478																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(67-69)gcG>gcA		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							110	108	109					5																	138643173		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding	g.chr5:138643173G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.69G>A	5.37:g.138643173G>A			Somatic				MATR3_uc003lds.3_Silent_p.A23A|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.A23A|MATR3_uc010jfb.3_Silent_p.A23A|MATR3_uc003ldx.3_Silent_p.A23A|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.A23A|MATR3_uc011czb.2_Intron	p.A23A	NM_018834	NP_954659	WXS	Illumina GAIIx	Phase_I	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	472	+			23					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.69G>A	CCDS4210.1																																																																																				0.478	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		64	151	0	0	0	1	0	64	151					A	138643173	G	A	138643173	2	1	62	1	0	0	0	0	0	0	0	1	9337	1103	39	1		1	MATR3	5	138643173	Silent	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08	80522259	138643173	42272087	8	1171											
NAV3	89795	broad.mit.edu	37	12	78401006	78401006	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr12:78401006A>C	ENST00000397909.2	+	8	1861	c.1688A>C	c.(1687-1689)cAg>cCg	p.Q563P	NAV3_ENST00000536525.2_Missense_Mutation_p.Q563P|NAV3_ENST00000228327.6_Missense_Mutation_p.Q563P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q563P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	563						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCCTTCCCAGTCCTTATCT	0.498										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1687-1689)cAg>cCg		Homo sapiens neuron navigator 3 (NAV3), mRNA.							81	80	81					12																	78401006		1905	4122	6027	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401006A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1688A>C	12.37:g.78401006A>C	ENSP00000381007:p.Gln563Pro	HNSCC(70;0.22)	Somatic				NAV3_uc001syo.3_Missense_Mutation_p.Q563P	p.Q563P	NM_014903	NP_055718	WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			7	1861	+			563					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1688A>C		.	.	.	.	.	.	.	.	.	.	A	11.28	1.591392	0.28357	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	5.29	0.74685	.	0.000000	0.38164	U	0.001789	T	0.13927	0.0337	L	0.51422	1.61	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04737	-1.0930	10	0.28530	T	0.3	-4.998	11.8452	0.52381	0.8539:0.1461:0.0:0.0	.	563;563	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	P	563	ENSP00000446628:Q563P;ENSP00000446132:Q563P;ENSP00000381007:Q563P;ENSP00000228327:Q563P;ENSP00000266692:Q563P	ENSP00000228327:Q563P	Q	+	2	0	NAV3	76925137	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	2.999000	0.49473	2.007000	0.58848	0.528000	0.53228	CAG		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		53	88	0	0	0	1	0	53	88					C	78401006	A	C	78401006	3	2	62	1	0	0	0	0	1	0	0	0	10185	188	7	5	1718	5	NAV3	12	78401006	Missense_Mutation	SNP	A	TCGA-DJ-A13S-01A-11D-A10S-08		78401006	55450889	9	1172											
KLHDC2	23588	broad.mit.edu	37	14	50241313	50241313	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr14:50241313T>C	ENST00000298307.5	+	3	1129	c.268T>C	c.(268-270)Tct>Cct	p.S90P	KLHDC2_ENST00000557247.1_Missense_Mutation_p.S90P|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.S90P	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	90						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TGTTCCTCCTTCTATGTCAGG	0.383																																						uc001wwx.3																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)Tct>Cct		Homo sapiens kelch domain containing 2 (KLHDC2), mRNA.							208	190	196					14																	50241313		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50241313T>C	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.268T>C	14.37:g.50241313T>C	ENSP00000298307:p.Ser90Pro		Somatic				NEMF_uc010anj.1_Intron	p.S90P	NM_014315	NP_055130	WXS	Illumina GAIIx	Phase_I	Q9Y2U9	KLDC2_HUMAN			2	668	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		90					B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.268T>C	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333221	0.81801	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.62105	0.05;0.05;0.05	5.95	5.95	0.96441	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	L	0.35644	1.08	0.58432	D	0.999998	B;B;B	0.21520	0.006;0.046;0.057	B;B;B	0.23574	0.01;0.028;0.047	T	0.48614	-0.9020	10	0.19147	T	0.46	-20.6516	16.4159	0.83738	0.0:0.0:0.0:1.0	.	90;90;90	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	P	90	ENSP00000298307:S90P;ENSP00000451439:S90P;ENSP00000450658:S90P	ENSP00000298307:S90P	S	+	1	0	KLHDC2	49311063	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.729000	0.62008	2.279000	0.76181	0.533000	0.62120	TCT		0.383	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			20	283	0	0	0	1	0	20	283					C	50241313	T	C	50241313	3	2	62	1	0	0	0	0	1	0	0	0	8356	1783	62	3	278	3	KLHDC2	14	50241313	Missense_Mutation	SNP	T	TCGA-DJ-A13S-01A-11D-A10S-08		50241313	57108227	10	1173											
MUC16	94025	broad.mit.edu	37	19	9069489	9069489	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr19:9069489G>T	ENST00000397910.4	-	3	18160	c.17957C>A	c.(17956-17958)gCa>gAa	p.A5986E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5988	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A5986E(2)|p.A1619E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGCTACTTGCACTTGGTAA	0.483																																						uc002mkp.3																			3	Substitution - Missense(3)	p.A5986E(3)|p.S5985I(2)|p.A1619E(1)	kidney(3)	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.(17956-17958)gCa>gAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							153	148	149					19																	9069489		1945	4143	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069489G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17957C>A	19.37:g.9069489G>T	ENSP00000381008:p.Ala5986Glu		Somatic					p.A5986E	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	18161	-			5988			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17957C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.250	-0.153415	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	0.9	-0.55	0.11825	.	.	.	.	.	T	0.04588	0.0125	N	0.00926	-1.1	.	.	.	P	0.35821	0.523	B	0.19666	0.026	T	0.26643	-1.0097	8	0.87932	D	0	.	3.0656	0.06213	0.4598:0.0:0.5402:0.0	.	5986	B5ME49	.	E	5986	ENSP00000381008:A5986E	ENSP00000381008:A5986E	A	-	2	0	MUC16	8930489	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-4.840000	0.00179	-0.152000	0.11156	0.281000	0.19383	GCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		100	175	0	0	0	1	0	100	175					T	9069489	G	T	9069489	3	4	62	1	0	0	0	0	1	0	0	0	9973	1319	46	4	25894	4	MUC16	19	9069489	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		9069489	50059494	11	1174											
EPB41L1	2036	broad.mit.edu	37	20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chr20:34809819G>A	ENST00000338074.2	+	20	2634	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	825	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552																																						uc010gfq.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(2767-2769)Gag>Aag		Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.							134	109	117					20																	34809819		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34809819G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2473G>A	20.37:g.34809819G>A	ENSP00000337168:p.Glu825Lys		Somatic				EPB41L1_uc002xeu.3_Missense_Mutation_p.E723K|EPB41L1_uc002xev.3_Missense_Mutation_p.E824K|EPB41L1_uc002xew.3_Missense_Mutation_p.E716K|EPB41L1_uc002xex.3_Missense_Mutation_p.E645K|EPB41L1_uc002xey.3_Missense_Mutation_p.E575K|EPB41L1_uc002xez.3_Missense_Mutation_p.E723K|EPB41L1_uc002xfb.3_Missense_Mutation_p.E825K	p.E923K	NM_012156	NP_036288	WXS	Illumina GAIIx	Phase_I	Q9H4G0	E41L1_HUMAN			9	3130	+	Breast(12;0.0239)		825					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2767G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658836	0.96734	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.47	5.47	0.80525	Band 4.1, C-terminal (1);	.	.	.	.	D	0.92570	0.7640	M	0.78049	2.395	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;P	0.87578	0.998;0.988;0.996;0.988;0.885	D	0.93216	0.6604	9	0.87932	D	0	.	18.3231	0.90246	0.0:0.0:1.0:0.0	.	825;645;716;716;723	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	E41L1_HUMAN;.;.;.;.	K	723;716;716;723;645;825;824;186	ENSP00000202028:E723K;ENSP00000363061:E716K;ENSP00000399214:E723K;ENSP00000363057:E645K;ENSP00000337168:E825K;ENSP00000363052:E824K;ENSP00000388281:E186K	ENSP00000202028:E723K	E	+	1	0	EPB41L1	34273233	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.564000	0.86499	0.462000	0.41574	GAG		0.552	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		27	51	0	0	0	1	0	27	51					A	34809819	G	A	34809819	3	1	62	1	0	0	0	0	1	0	0	0	5152	1059	37	1	2547	1	EPB41L1	20	34809819	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		34809819	28215701	12	1175											
CDKL5	6792	broad.mit.edu	37	X	18664181	18664181	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13S-01A-11D-A10S-08	TCGA-DJ-A13S-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b564c58-40b0-4d9b-a372-12249a31a765	22668d43-8a18-4cd4-ad8e-ec4e37ce4a38	g.chrX:18664181G>A	ENST00000379989.3	+	20	3053	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	RS1_ENST00000476595.1_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.R923H|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	923			R -> C. {ECO:0000269|PubMed:19241098}.		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)					caagatagacgcttcatgtta	0.478																																						uc004cym.3																			0		p.R922K(1)		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.(2767-2769)cGc>cAc		Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.							164	123	137					X																	18664181		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity	g.chrX:18664181G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2768G>A	X.37:g.18664181G>A	ENSP00000369325:p.Arg923His		Somatic				CDKL5_uc004cyn.3_Missense_Mutation_p.R923H|RS1_uc004cyo.3_Intron	p.R923H	NM_003159	NP_003150	WXS	Illumina GAIIx	Phase_I	O76039	CDKL5_HUMAN			18	3021	+	Hepatocellular(33;0.183)		923		R -> C.			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2768G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194713	0.38806	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71817	-0.6;-0.6	1.89	-1.23	0.09465	.	0.611520	0.14334	N	0.326200	T	0.42404	0.1201	N	0.08118	0	0.09310	N	1	B	0.28258	0.205	B	0.11329	0.006	T	0.23655	-1.0182	10	0.87932	D	0	.	5.2671	0.15605	0.628:0.0:0.372:0.0	.	923	O76039	CDKL5_HUMAN	H	923	ENSP00000369332:R923H;ENSP00000369325:R923H	ENSP00000369325:R923H	R	+	2	0	CDKL5	18574102	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.311000	0.08124	-0.524000	0.06400	0.418000	0.28097	CGC		0.478	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		20	77	0	0	0	1	0	20	77					A	18664181	G	A	18664181	3	1	62	1	0	0	0	0	1	0	0	0	3157	1087	38	1	2838	1	CDKL5	23	18664181	Missense_Mutation	SNP	G	TCGA-DJ-A13S-01A-11D-A10S-08		18664181	136606379	13	1176											
BCL9	607	broad.mit.edu	37	1	147091712	147091712	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr1:147091712G>T	ENST00000234739.3	+	8	2491	c.1751G>T	c.(1750-1752)aGa>aTa	p.R584I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	584	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCTGCATCTAGACCAGGTCTT	0.552			T	"IGH@, IGL@"	B-ALL																																	uc001epq.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1750-1752)aGa>aTa		Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.							83	91	88					1																	147091712		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091712G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1751G>T	1.37:g.147091712G>T	ENSP00000234739:p.Arg584Ile		Somatic				BCL9_uc010ozr.1_Missense_Mutation_p.R510I	p.R584I	NM_004326	NP_004317	WXS	Illumina GAIIx	Phase_I	O00512	BCL9_HUMAN			7	2491	+	all_hematologic(923;0.115)		584			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1751G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963895	0.74131	.	.	ENSG00000116128	ENST00000234739	T	0.50277	0.75	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.60367	-0.7277	10	0.87932	D	0	-13.6678	19.3785	0.94521	0.0:0.0:1.0:0.0	.	584;584	Q1JQ81;O00512	.;BCL9_HUMAN	I	584	ENSP00000234739:R584I	ENSP00000234739:R584I	R	+	2	0	BCL9	145558336	1.000000	0.71417	0.958000	0.39756	0.972000	0.66771	6.350000	0.73017	2.815000	0.96918	0.561000	0.74099	AGA		0.552	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		6	213	0	0	0	1	0	6	213					T	147091712	G	T	147091712	3	4	63	1	0	0	0	0	1	0	0	0	1381	942	33	4	1769	4	BCL9	1	147091712	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		147091712	102158909	1	1177											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	79	0	0	0	1	0	42	79					T	140453136	A	T	140453136	3	4	63	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08		140453136	18685527	2	1178											
NUMA1	4926	broad.mit.edu	37	11	71734181	71734181	+	Missense_Mutation	SNP	T	T	C	rs140051813	byFrequency	TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:71734181T>C	ENST00000393695.3	-	6	552	c.221A>G	c.(220-222)cAt>cGt	p.H74R	NUMA1_ENST00000358965.6_Missense_Mutation_p.H74R|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.H74R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAAGAGGGATGTTTTCGATT	0.493			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(220-222)cAt>cGt		Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.							145	127	133					11																	71734181		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71734181T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.221A>G	11.37:g.71734181T>C	ENSP00000377298:p.His74Arg		Somatic				NUMA1_uc001ork.1_Missense_Mutation_p.H74R|NUMA1_uc001orm.1_Missense_Mutation_p.H74R|NUMA1_uc009ysx.1_Missense_Mutation_p.H74R|NUMA1_uc001oro.1_Missense_Mutation_p.H74R|NUMA1_uc009ysy.2_Missense_Mutation_p.H74R|NUMA1_uc001orp.3_Missense_Mutation_p.H74R|NUMA1_uc001orq.3_Missense_Mutation_p.H74R|NUMA1_uc021qmw.1_Missense_Mutation_p.H74R	p.H74R	NM_006185	NP_006176	WXS	Illumina GAIIx	Phase_I	Q14980	NUMA1_HUMAN			5	393	-			74						Missense_Mutation	SNP	ENST00000393695.3	37	c.221A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874908	0.33069	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394	T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.76	3.59	0.41128	.	0.261397	0.33895	N	0.004442	T	0.37320	0.0999	L	0.57536	1.79	0.28089	N	0.931893	B;B;B;B;B;B	0.29646	0.006;0.002;0.002;0.253;0.003;0.16	B;B;B;B;B;B	0.36244	0.018;0.006;0.006;0.22;0.009;0.087	T	0.27331	-1.0077	10	0.10902	T	0.67	.	8.774	0.34751	0.1685:0.0:0.0:0.8315	.	74;74;74;74;74;74	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	R	74	ENSP00000260051:H74R;ENSP00000351851:H74R;ENSP00000377298:H74R;ENSP00000444880:H74R;ENSP00000442936:H74R;ENSP00000442761:H74R;ENSP00000439759:H74R;ENSP00000438821:H74R;ENSP00000438589:H74R;ENSP00000439092:H74R;ENSP00000444175:H74R;ENSP00000439576:H74R	ENSP00000260051:H74R	H	-	2	0	NUMA1	71411829	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.413000	0.34725	0.913000	0.36797	0.533000	0.62120	CAT		0.493	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			63	97	0	0	0	1	0	63	97					C	71734181	T	C	71734181	3	2	63	1	0	0	0	0	1	0	0	0	10750	1464	51	3	6214	3	NUMA1	11	71734181	Missense_Mutation	SNP	T	TCGA-DJ-A13T-01A-11D-A10S-08		71734181	63272335	3	1179											
C11orf63	79864	broad.mit.edu	37	11	122774973	122774973	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:122774973G>T	ENST00000531316.1	+	2	777	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	C11orf63_ENST00000227349.2_Missense_Mutation_p.V229L|C11orf63_ENST00000307257.6_Missense_Mutation_p.V229L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	229					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTCTCCGTACGTGAAGAGCTC	0.512																																						uc001pym.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(685-687)Gtg>Ttg		Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.							121	101	108					11																	122774973		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122774973G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.685G>T	11.37:g.122774973G>T	ENSP00000431669:p.Val229Leu		Somatic				C11orf63_uc001pyl.1_Missense_Mutation_p.V229L	p.V229L	NM_024806	NP_079082	WXS	Illumina GAIIx	Phase_I	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	982	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	229					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.685G>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	3.208	-0.162187	0.06502	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.40225	1.04;1.04	5.65	-8.44	0.00950	.	1.159560	0.06549	N	0.744570	T	0.06690	0.0171	N	0.00116	-2.08	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39461	-0.9613	10	0.07030	T	0.85	0.4346	6.7368	0.23413	0.1178:0.4837:0.292:0.1065	.	229;229	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	L	229	ENSP00000227349:V229L;ENSP00000431669:V229L	ENSP00000227349:V229L	V	+	1	0	C11orf63	122280183	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.705000	0.01896	-0.706000	0.05028	-0.150000	0.13652	GTG		0.512	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		5	181	0	0	0	1	0	5	181					T	122774973	G	T	122774973	3	4	63	1	0	0	0	0	1	0	0	0	1654	1145	40	4	691	4	C11orf63	11	122774973	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08	51040792	122774973	12231543	4	1180											
SLC38A4	55089	broad.mit.edu	37	12	47168909	47168909	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:47168909A>T	ENST00000447411.1	-	13	1428	c.1222T>A	c.(1222-1224)Tta>Ata	p.L408I	SLC38A4_ENST00000266579.4_Missense_Mutation_p.L408I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	408					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GGGATGTCTAATGTATACACT	0.438																																						uc001rpi.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1222-1224)Tta>Ata		Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.							159	141	147					12																	47168909		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47168909A>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1222T>A	12.37:g.47168909A>T	ENSP00000389843:p.Leu408Ile		Somatic				SLC38A4_uc001rpj.2_Missense_Mutation_p.L408I	p.L408I	NM_018018	NP_060488	WXS	Illumina GAIIx	Phase_I	Q969I6	S38A4_HUMAN			13	1621	-	Lung SC(27;0.192)|Renal(347;0.236)		408					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1222T>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717134	0.48622	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04603	3.59;3.59	5.94	5.94	0.96194	.	0.119095	0.64402	D	0.000008	T	0.03178	0.0093	N	0.04203	-0.255	0.25696	N	0.98563	B	0.06786	0.001	B	0.08055	0.003	T	0.46456	-0.9190	10	0.23302	T	0.38	-18.7464	16.3908	0.83537	1.0:0.0:0.0:0.0	.	408	Q969I6	S38A4_HUMAN	I	408	ENSP00000389843:L408I;ENSP00000266579:L408I	ENSP00000266579:L408I	L	-	1	2	SLC38A4	45455176	1.000000	0.71417	0.980000	0.43619	0.613000	0.37349	7.518000	0.81795	2.269000	0.75478	0.455000	0.32223	TTA		0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			60	95	0	0	0	1	0	60	95					T	47168909	A	T	47168909	3	4	63	1	0	0	0	0	1	0	0	0	14606	98	4	5	437	5	SLC38A4	12	47168909	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08		47168909	86682986	5	1181											
HPD	3242	broad.mit.edu	37	12	122292689	122292689	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:122292689C>T	ENST00000289004.4	-	7	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Missense_Mutation_p.E73K	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	112					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCGCCCCGTTCCCGTGCTTTC	0.597																																						uc001ubj.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(334-336)Gaa>Aaa		Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	Nitisinone(DB00348)						133	114	120					12																	122292689		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292689C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"glyoxalase domain containing 3"	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.334G>A	12.37:g.122292689C>T	ENSP00000289004:p.Glu112Lys		Somatic				HPD_uc001ubk.3_Missense_Mutation_p.E73K	p.E112K	NM_002150	NP_001165464	WXS	Illumina GAIIx	Phase_I	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	6	374	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		112					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.334G>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	9.485	1.099158	0.20552	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64438	-0.1;-0.1	5.41	5.41	0.78517	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.222718	0.45606	D	0.000355	T	0.44705	0.1306	N	0.20483	0.58	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.35549	-0.9784	10	0.09843	T	0.71	-23.7139	13.875	0.63647	0.0:0.8474:0.1526:0.0	.	112	P32754	HPPD_HUMAN	K	112;109;73	ENSP00000289004:E112K;ENSP00000441677:E73K	ENSP00000289004:E112K	E	-	1	0	HPD	120777072	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.431000	0.59915	2.542000	0.85734	0.563000	0.77884	GAA		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		55	65	0	0	0	1	0	55	65					T	122292689	C	T	122292689	3	4	63	1	0	0	0	0	1	0	0	0	7332	864	30	2	879	2	HPD	12	122292689	Missense_Mutation	SNP	C	TCGA-DJ-A13T-01A-11D-A10S-08	75123780	122292689	11559206	6	1182											
SLITRK1	114798	broad.mit.edu	37	13	84453858	84453858	+	Silent	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr13:84453858G>A	ENST00000377084.2	-	1	2670	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	595					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCCAGTGCTGTTTTTACTGT	0.542																																						uc001vlk.3																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1783-1785)aaC>aaT		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							99	87	91					13																	84453858		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84453858G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1785C>T	13.37:g.84453858G>A			Somatic					p.N595N	NM_052910	NP_443142	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	2671	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	595					Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1785C>T	CCDS9464.1																																																																																				0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		4	62	0	0	0	1	0	4	62					A	84453858	G	A	84453858	2	1	63	1	0	0	0	0	0	0	0	1	14742	1368	48	2		2	SLITRK1	13	84453858	Silent	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		84453858	30716020	7	1183											
NLRP1	22861	broad.mit.edu	37	17	5487102	5487102	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:5487102G>A	ENST00000572272.1	-	1	175	c.176C>T	c.(175-177)gCt>gTt	p.A59V	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.A59V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A59V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A59V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A59V|NLRP1_ENST00000345221.3_Missense_Mutation_p.A59V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	59	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATACTGAGCCACCAGGTA	0.637																																						uc002gci.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(175-177)gCt>gTt		Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.							33	24	27					17																	5487102		2189	4262	6451	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5487102G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.176C>T	17.37:g.5487102G>A	ENSP00000460475:p.Ala59Val		Somatic				NLRP1_uc002gcg.1_Missense_Mutation_p.A59V|NLRP1_uc002gch.4_Missense_Mutation_p.A59V|NLRP1_uc002gck.3_Missense_Mutation_p.A59V|NLRP1_uc002gcj.3_Missense_Mutation_p.A59V|NLRP1_uc002gcl.3_Missense_Mutation_p.A59V|NLRP1_uc010clh.3_Missense_Mutation_p.A59V	p.A59V	NM_033004	NP_127497	WXS	Illumina GAIIx	Phase_I	Q9C000	NALP1_HUMAN			0	731	-		Colorectal(1115;3.48e-05)	59			DAPIN.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.176C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656140	0.67586	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.96	2.89	0.33648	Pyrin (2);DEATH-like (2);	0.431953	0.17232	N	0.181903	T	0.60702	0.2289	M	0.74881	2.28	0.09310	N	1	D;D;D;D;D	0.69078	0.996;0.996;0.997;0.996;0.997	P;P;P;P;P	0.61533	0.824;0.824;0.89;0.824;0.89	T	0.48068	-0.9067	10	0.48119	T	0.1	.	8.9609	0.35847	0.0:0.2281:0.7719:0.0	.	59;59;59;59;59	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	V	59	ENSP00000442029:A59V;ENSP00000262467:A59V;ENSP00000269280:A59V;ENSP00000346390:A59V;ENSP00000324366:A59V	ENSP00000262467:A59V	A	-	2	0	NLRP1	5427826	0.431000	0.25546	0.013000	0.15412	0.759000	0.43091	1.459000	0.35234	2.225000	0.72522	0.555000	0.69702	GCT		0.637	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		2	6	0	0	0	1	0	2	6					A	5487102	G	A	5487102	3	1	63	1	0	0	0	0	1	0	0	0	10471	971	34	2	4388	2	NLRP1	17	5487102	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		5487102	75708108	8	1184											
MYO15A	51168	broad.mit.edu	37	17	18057452	18057452	+	Missense_Mutation	SNP	A	A	G	rs397517287		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:18057452A>G	ENST00000205890.5	+	44	8434	c.8096A>G	c.(8095-8097)tAc>tGc	p.Y2699C	MYO15A_ENST00000418233.3_5'UTR|MYO15A_ENST00000585180.1_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2699	Tail.				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)					CAGGTGTTTTACCCCAAGGAC	0.637																																						uc021trm.1																			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.(8095-8097)tAc>tGc		Homo sapiens myosin XVA (MYO15A), mRNA.							71	84	80					17																	18057452		2034	4193	6227	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18057452A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8096A>G	17.37:g.18057452A>G	ENSP00000205890:p.Tyr2699Cys		Somatic				MYO15A_uc021trl.1_Missense_Mutation_p.Y2697C|MYO15A_uc010vxi.2_5'UTR|MYO15A_uc010vxj.1_5'UTR|MYO15A_uc010vxk.1_5'UTR	p.Y2699C	NM_016239	NP_057323	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			42	8315	+	all_neural(463;0.228)		2699			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8096A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286786	0.59867	.	.	ENSG00000091536	ENST00000205890	D	0.89050	-2.46	5.19	5.19	0.71726	.	.	.	.	.	D	0.93562	0.7945	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93788	0.7090	9	0.59425	D	0.04	.	11.5824	0.50900	0.8511:0.1489:0.0:0.0	.	2699	Q9UKN7	MYO15_HUMAN	C	2699	ENSP00000205890:Y2699C	ENSP00000205890:Y2699C	Y	+	2	0	MYO15A	17998177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.716000	0.74702	1.952000	0.56665	0.460000	0.39030	TAC		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	108	0	0	0	1	0	4	108					G	18057452	A	G	18057452	3	3	63	1	0	0	0	0	1	0	0	0	10063	391	14	3	8262	3	MYO15A	17	18057452	Missense_Mutation	SNP	A	TCGA-DJ-A13T-01A-11D-A10S-08	12570350	18057452	63137758	9	1185											
FCER2	2208	broad.mit.edu	37	19	7754305	7754305	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:7754305G>A	ENST00000346664.5	-	11	952	c.740C>T	c.(739-741)cCa>cTa	p.P247L	FCER2_ENST00000360067.4_Missense_Mutation_p.P246L|FCER2_ENST00000597921.1_Missense_Mutation_p.P247L	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	247	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GGGCTCCCCTGGAGCCCAGTT	0.677																																						uc002mhn.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(739-741)cCa>cTa		Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.							5	6	5					19																	7754305		2058	4080	6138	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7754305G>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.740C>T	19.37:g.7754305G>A	ENSP00000264072:p.Pro247Leu		Somatic				FCER2_uc021unx.1_Missense_Mutation_p.P246L|FCER2_uc002mhm.2_Missense_Mutation_p.P247L|FCER2_uc010xjt.2_Missense_Mutation_p.P169L	p.P247L	NM_001220500	NP_001207429	WXS	Illumina GAIIx	Phase_I	P06734	FCER2_HUMAN			10	957	-			247			C-type lectin.			Missense_Mutation	SNP	ENST00000346664.5	37	c.740C>T	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449598	0.12223	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.20069	2.1;2.1	3.67	-0.232	0.13082	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.18467	0.0443	L	0.55743	1.74	0.09310	N	1	P	0.35226	0.491	B	0.38880	0.284	T	0.31558	-0.9939	9	0.62326	D	0.03	.	1.713	0.02896	0.1269:0.2084:0.4513:0.2134	.	247	P06734	FCER2_HUMAN	L	247;246	ENSP00000264072:P247L;ENSP00000353178:P246L	ENSP00000264072:P247L	P	-	2	0	FCER2	7660305	0.001000	0.12720	0.024000	0.17045	0.007000	0.05969	0.290000	0.18975	0.472000	0.27344	0.478000	0.44815	CCA		0.677	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		10	7	0	0	0	1	0	10	7					A	7754305	G	A	7754305	3	1	63	1	0	0	0	0	1	0	0	0	5776	1348	47	2	229	2	FCER2	19	7754305	Missense_Mutation	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		7754305	51374678	10	1186											
ZNF607	84775	broad.mit.edu	37	19	38190685	38190685	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:38190685C>A	ENST00000355202.4	-	5	942	c.347G>T	c.(346-348)tGt>tTt	p.C116F	CTD-2528L19.4_ENST00000586606.2_Splice_Site|ZNF607_ENST00000395835.3_Missense_Mutation_p.C115F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	116					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATTGCTTACACTCATATGG	0.368																																						uc002ohc.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(346-348)tGt>tTt		Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.							137	141	139					19																	38190685		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190685C>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.347G>T	19.37:g.38190685C>A	ENSP00000347338:p.Cys116Phe		Somatic				ZNF607_uc002ohb.2_Missense_Mutation_p.C115F	p.C116F	NM_032689	NP_116078	WXS	Illumina GAIIx	Phase_I	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		4	943	-			116					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.347G>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202983	0.38905	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	D;D	0.85088	-1.94;-1.94	1.96	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94251	0.8154	H	0.97158	3.95	0.24826	N	0.992558	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85599	0.1251	9	0.62326	D	0.03	.	10.9347	0.47239	0.0:1.0:0.0:0.0	.	116;115	Q96SK3;F5H141	ZN607_HUMAN;.	F	116;115	ENSP00000347338:C116F;ENSP00000438015:C115F	ENSP00000347338:C116F	C	-	2	0	ZNF607	42882525	0.562000	0.26586	0.027000	0.17364	0.012000	0.07955	2.836000	0.48183	1.080000	0.41073	0.561000	0.74099	TGT		0.368	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		88	132	0	0	0	1	0	88	132					A	38190685	C	A	38190685	3	1	63	1	0	0	0	0	1	0	0	0	18030	478	17	4	1747	4	ZNF607	19	38190685	Missense_Mutation	SNP	C	TCGA-DJ-A13T-01A-11D-A10S-08	30436380	38190685	20938298	11	1187											
MAGEB6	158809	broad.mit.edu	37	X	26212809	26212809	+	Silent	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chrX:26212809G>A	ENST00000379034.1	+	2	995	c.846G>A	c.(844-846)ctG>ctA	p.L282L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	282	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATAATGCGCTGCCGAAGTCGG	0.542																																						uc004dbr.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(844-846)ctG>ctA		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							133	122	126					X																	26212809		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212809G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.846G>A	X.37:g.26212809G>A			Somatic				MAGEB6_uc022buc.1_Silent_p.L282L	p.L282L	NM_173523	NP_775794	WXS	Illumina GAIIx	Phase_I	Q8N7X4	MAGB6_HUMAN			1	995	+			282			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.846G>A	CCDS14217.1																																																																																				0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		8	250	0	0	0	1	0	8	250					A	26212809	G	A	26212809	2	1	63	1	0	0	0	0	0	0	0	1	9179	1306	46	2		2	MAGEB6	23	26212809	Silent	SNP	G	TCGA-DJ-A13T-01A-11D-A10S-08		26212809	129057751	12	1188											
FGR	2268	broad.mit.edu	37	1	27949582	27949582	+	Silent	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:27949582C>T	ENST00000374005.3	-	4	588	c.300G>A	c.(298-300)aaG>aaA	p.K100K	FGR_ENST00000545953.1_Silent_p.K100K|FGR_ENST00000468038.1_5'Flank|FGR_ENST00000399173.1_Silent_p.K100K|FGR_ENST00000374004.1_Silent_p.K100K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	100	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTCTCGCCCTTGGTGAAGG	0.552																																						uc001boj.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(298-300)aaG>aaA		Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.							216	150	172					1																	27949582		2203	4300	6503	SO:0001819	synonymous_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27949582C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.300G>A	1.37:g.27949582C>T			Somatic				FGR_uc001bok.3_Silent_p.K100K|FGR_uc001bol.3_Silent_p.K100K|FGR_uc001bom.3_Silent_p.K100K	p.K100K	NM_005248	NP_005239	WXS	Illumina GAIIx	Phase_I	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	1	446	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	100			SH3.		D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	c.300G>A	CCDS305.1																																																																																				0.552	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		9	48	0	0	0	1	0	9	48					T	27949582	C	T	27949582	2	4	64	1	0	0	0	0	0	0	0	1	5874	680	24	2		2	FGR	1	27949582	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		27949582	221301039	1	1189											
HCRTR1	3061	broad.mit.edu	37	1	32092570	32092570	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr1:32092570G>T	ENST00000373706.5	+	7	1420	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	HCRTR1_ENST00000403528.2_Missense_Mutation_p.V423L|HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000468521.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	423					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CGTCACCACAGTGCTGCCCTG	0.612																																						uc009vtx.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(1267-1269)Gtg>Ttg		Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.							74	73	73					1																	32092570		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32092570G>T	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"GPCR / Class A : Hypocretin (orexin) receptors"	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.1267G>T	1.37:g.32092570G>T	ENSP00000362810:p.Val423Leu		Somatic				HCRTR1_uc001btc.4_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.V423L|HCRTR1_uc010ogl.2_Intron	p.V423L	NM_001525	NP_001516	WXS	Illumina GAIIx	Phase_I	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	8	1652	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	423					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.1267G>T	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	5.420	0.262678	0.10294	.	.	ENSG00000121764	ENST00000403528;ENST00000373706	T;T	0.57907	0.37;0.37	4.58	4.58	0.56647	.	0.000000	0.46442	D	0.000291	T	0.23054	0.0557	N	0.01874	-0.695	0.36063	D	0.84156	B	0.09022	0.002	B	0.06405	0.002	T	0.24693	-1.0153	10	0.06365	T	0.9	.	13.6145	0.62099	0.0:0.0:1.0:0.0	.	423	O43613	OX1R_HUMAN	L	423	ENSP00000384387:V423L;ENSP00000362810:V423L	ENSP00000362810:V423L	V	+	1	0	HCRTR1	31865157	0.998000	0.40836	0.981000	0.43875	0.989000	0.77384	3.038000	0.49783	2.478000	0.83669	0.655000	0.94253	GTG		0.612	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		4	147	0	0	0	1	0	4	147					T	32092570	G	T	32092570	3	4	64	1	0	0	0	0	1	0	0	0	7001	1029	36	4	1293	4	HCRTR1	1	32092570	Missense_Mutation	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	4142988	32092570	217158051	2	1190											
SDAD1	55153	broad.mit.edu	37	4	76881302	76881302	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:76881302T>C	ENST00000356260.5	-	17	1518	c.1400A>G	c.(1399-1401)tAt>tGt	p.Y467C	SDAD1_ENST00000395711.4_Missense_Mutation_p.Y430C|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	467					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAATTCTCCATATTCTTGTAC	0.348																																						uc003hje.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1399-1401)tAt>tGt		Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.							122	110	114					4																	76881302		2203	4300	6503	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76881302T>C	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1400A>G	4.37:g.76881302T>C	ENSP00000348596:p.Tyr467Cys		Somatic				SDAD1_uc003hjf.4_Missense_Mutation_p.Y370C|SDAD1_uc011cbr.2_Missense_Mutation_p.Y430C	p.Y467C	NM_018115	NP_060585	WXS	Illumina GAIIx	Phase_I	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		16	1519	-			467					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.1400A>G	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309053	0.81247	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.39406	1.08;1.08	5.68	5.68	0.88126	SDA1 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78398	-0.2219	10	0.87932	D	0	-13.5628	13.8874	0.63717	0.0:0.0:0.0:1.0	.	430;467	E7EW05;Q9NVU7	.;SDA1_HUMAN	C	467;430	ENSP00000348596:Y467C;ENSP00000379061:Y430C	ENSP00000348596:Y467C	Y	-	2	0	SDAD1	77100326	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.227000	0.78070	2.182000	0.69389	0.533000	0.62120	TAT		0.348	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		6	67	0	0	0	1	0	6	67					C	76881302	T	C	76881302	3	2	64	1	0	0	0	0	1	0	0	0	13950	1406	49	3	687	3	SDAD1	4	76881302	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08		76881302	114272974	3	1191											
TIGD4	201798	broad.mit.edu	37	4	153691793	153691793	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:153691793C>T	ENST00000304337.2	-	2	1184	c.364G>A	c.(364-366)Ggc>Agc	p.G122S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	122	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCATTATGGCCCAGTTTCTGG	0.403																																						uc003imy.3																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(364-366)Ggc>Agc		Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.							88	87	87					4																	153691793		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding	g.chr4:153691793C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.364G>A	4.37:g.153691793C>T	ENSP00000355162:p.Gly122Ser		Somatic				TIGD4_uc021xtf.1_Missense_Mutation_p.G122S	p.G122S	NM_145720	NP_663772	WXS	Illumina GAIIx	Phase_I	Q8IY51	TIGD4_HUMAN			1	1185	-	all_hematologic(180;0.093)		122			HTH CENPB-type.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.364G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358039	0.82243	.	.	ENSG00000169989	ENST00000304337	T	0.19532	2.14	6.17	6.17	0.99709	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000113	T	0.44912	0.1316	M	0.72576	2.205	0.53005	D	0.999961	D	0.60160	0.987	P	0.59357	0.856	T	0.03473	-1.1033	10	0.35671	T	0.21	-24.6648	20.4898	0.99202	0.0:1.0:0.0:0.0	.	122	Q8IY51	TIGD4_HUMAN	S	122	ENSP00000355162:G122S	ENSP00000355162:G122S	G	-	1	0	TIGD4	153911243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.463000	0.66712	2.941000	0.99782	0.655000	0.94253	GGC		0.403	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		4	150	0	0	0	1	0	4	150					T	153691793	C	T	153691793	3	4	64	1	0	0	0	0	1	0	0	0	15895	623	22	2	1178	2	TIGD4	4	153691793	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08	76810491	153691793	37462483	4	1192											
AGA	175	broad.mit.edu	37	4	178359917	178359917	+	Silent	SNP	G	G	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr4:178359917G>A	ENST00000264595.2	-	4	616	c.489C>T	c.(487-489)tgC>tgT	p.C163C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	163			C -> S (in AGU; most frequent mutation; abolishes autocatalytic cleavage and enzyme activity; dbSNP:rs121964904). {ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2011603}.		protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AATTTGGCTGGCAATTCCGAG	0.393																																						uc003iuu.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(487-489)tgC>tgT		Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.							52	46	48					4																	178359917		2203	4300	6503	SO:0001819	synonymous_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178359917G>A	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.489C>T	4.37:g.178359917G>A			Somatic				AGA_uc003iuw.3_Silent_p.C163C|AGA_uc003iuv.2_Non-coding_Transcript	p.C163C	NM_000027	NP_000018	WXS	Illumina GAIIx	Phase_I	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	3	617	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	163		C -> S (in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles).			B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Silent	SNP	ENST00000264595.2	37	c.489C>T	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838282	0.16891	.	.	ENSG00000038002	ENST00000510635	.	.	.	5.65	2.62	0.31277	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54029	-0.8354	4	.	.	.	-27.9268	9.5832	0.39501	0.3216:0.0:0.6784:0.0	.	.	.	.	V	62	.	.	A	-	2	0	AGA	178596911	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.169000	0.31871	0.754000	0.32968	-0.794000	0.03295	GCC		0.393	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		3	31	0	0	0	1	0	3	31					A	178359917	G	A	178359917	2	1	64	1	0	0	0	0	0	0	0	1	365	1195	42	2		2	AGA	4	178359917	Silent	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	24668124	178359917	12794359	5	1193											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	53	0	0	0	1	0	35	53					T	140453136	A	T	140453136	3	4	64	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		140453136	18685527	6	1194											
EPHB6	2051	broad.mit.edu	37	7	142563827	142563827	+	Silent	SNP	C	C	T	rs201397299	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr7:142563827C>T	ENST00000392957.2	+	9	2002	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	EPHB6_ENST00000442129.1_Silent_p.V405V|EPHB6_ENST00000411471.2_Silent_p.V128V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTTCAATGTCGTGTGCAAGG	0.637																																						uc011kst.2																			0		p.G404S(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1213-1215)gtC>gtT		Homo sapiens EPH receptor B6 (EPHB6), mRNA.		C		0,4404		0,0,2202	35	30	32		1215	-3.2	0.9	7		32	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	EPHB6	NM_004445.3		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		405/1022	142563827	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142563827C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1215C>T	7.37:g.142563827C>T			Somatic				EPHB6_uc011ksu.2_Silent_p.V405V|EPHB6_uc003wbs.3_Silent_p.V113V|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Silent_p.V113V|EPHB6_uc003wbv.3_5'Flank	p.V405V	NM_004445	NP_004436	WXS	Illumina GAIIx	Phase_I	O15197	EPHB6_HUMAN			8	2002	+	Melanoma(164;0.059)		405			Fibronectin type-III 1.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1215C>T	CCDS5873.2																																																																																				0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			13	15	0	0	0	1	0	13	15					T	142563827	C	T	142563827	2	4	64	1	0	0	0	0	0	0	0	1	5178	871	31	1		1	EPHB6	7	142563827	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08	2110691	142563827	16574836	7	1195											
RNF139	83940	broad.mit.edu	37	8	125499517	125499517	+	IGR	SNP	A	A	G			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr8:125499517A>G	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.I543V|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTACAAGAAATAAATGATGT	0.378																																						uc003yrc.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1627-1629)Ata>Gta		Homo sapiens ring finger protein 139 (RNF139), mRNA.							66	65	65					8																	125499517		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499517A>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499517A>G			Somatic					p.I543V	NM_007218	NP_009149	WXS	Illumina GAIIx	Phase_I	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	1970	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		543					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.1627A>G	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844868	0.32606	.	.	ENSG00000170881	ENST00000303545	T	0.67345	-0.26	5.5	5.5	0.81552	Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	N	0.20986	0.625	0.52501	D	0.999959	P	0.41597	0.756	B	0.38842	0.283	T	0.50915	-0.8771	10	0.17369	T	0.5	-18.2453	15.8921	0.79305	1.0:0.0:0.0:0.0	.	543	Q8WU17	RN139_HUMAN	V	543	ENSP00000304051:I543V	ENSP00000304051:I543V	I	+	1	0	RNF139	125568698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.553000	0.67287	2.203000	0.70933	0.459000	0.35465	ATA		0.378	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		31	56	0	0	0	1	0	31	56					G	125499517	A	G	125499517	1	3	64	0	1	0	0	0	0	0	0	0	13442	101	4	3		3	RNF139	8	125499517	IGR	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		125499517	20864505	8	1196											
CNTNAP3	79937	broad.mit.edu	37	9	39171422	39171422	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:39171422C>T	ENST00000297668.6	-	8	1350	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G426D|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G338D|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G426D|CNTNAP3_ENST00000377653.2_5'Flank	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	426	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGCTTGCCATCCTTAAG	0.468																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1276-1278)gGc>gAc		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.							100	93	95					9																	39171422		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39171422C>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1277G>A	9.37:g.39171422C>T	ENSP00000297668:p.Gly426Asp		Somatic				CNTNAP3_uc004abj.3_Missense_Mutation_p.G426D|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.G426D|CNTNAP3_uc011lqs.1_Missense_Mutation_p.G426D	p.G426D	NM_033655	NP_387504	WXS	Illumina GAIIx	Phase_I	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	7	1516	-			426			Laminin G-like 2.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1277G>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326006	0.60743	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.94192	0.8136	M	0.91561	3.22	0.34595	D	0.715918	D;D;D;D;D	0.89917	1.0;0.998;0.997;1.0;0.996	D;D;D;D;D	0.91635	0.999;0.991;0.965;0.998;0.964	D	0.96812	0.9597	9	0.52906	T	0.07	.	13.6393	0.62241	0.0:1.0:0.0:0.0	.	426;426;426;426;426	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	D	426;426;338;426;426	ENSP00000297668:G426D;ENSP00000366884:G426D;ENSP00000350863:G338D;ENSP00000320728:G426D;ENSP00000366887:G426D	ENSP00000297668:G426D	G	-	2	0	CNTNAP3	39161422	1.000000	0.71417	0.883000	0.34634	0.845000	0.48019	2.813000	0.48002	1.799000	0.52666	0.563000	0.77884	GGC		0.468	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		4	145	0	0	0	1	0	4	145					T	39171422	C	T	39171422	3	4	64	1	0	0	0	0	1	0	0	0	3648	739	26	2	2657	2	CNTNAP3	9	39171422	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		39171422	102042009	9	1197											
PPP3R2	116443	broad.mit.edu	37	9	104357184	104357184	+	Intron	SNP	T	T	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:104357184T>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.Y10F	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTCCGCCGGGTAACTGGCCTC	0.587																																						uc004bbr.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(28-30)tAc>tTc		Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	Cyclosporine(DB00091)						47	52	51					9																	104357184		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357184T>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15542A>T	9.37:g.104357184T>A			Somatic				GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	p.Y10F	NM_147180	NP_671709	WXS	Illumina GAIIx	Phase_I	Q96LZ3	CANB2_HUMAN			0	100	-		Acute lymphoblastic leukemia(62;0.0527)	7					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.29A>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265376	0.23136	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.68765	-0.35	3.94	2.75	0.32379	.	0.222627	0.23118	N	0.051738	T	0.36276	0.0961	N	0.03948	-0.315	0.33508	D	0.590826	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.11794	T	0.64	-24.8004	8.0992	0.30846	0.1807:0.0:0.0:0.8193	.	7	Q96LZ3	CANB2_HUMAN	F	10	ENSP00000363939:Y10F	ENSP00000363939:Y10F	Y	-	2	0	PPP3R2	103397005	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	3.062000	0.49971	0.808000	0.34231	0.460000	0.39030	TAC		0.587	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			42	68	0	0	0	1	0	42	68					A	104357184	T	A	104357184	1	1	64	0	1	0	0	0	0	0	0	0	12401	1638	57	5		5	PPP3R2	9	104357184	Intron	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08	65185762	104357184	36856247	10	1198											
COL27A1	85301	broad.mit.edu	37	9	117071596	117071596	+	Silent	SNP	G	G	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr9:117071596G>A	ENST00000356083.3	+	60	5665	c.5274G>A	c.(5272-5274)gaG>gaA	p.E1758E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1758	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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						TAAGCTCCGAGGTGACCCAGC	0.617																																						uc011lxl.2																			0		p.S1757S(1)		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.(5272-5274)gaG>gaA		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.							137	139	138					9																	117071596		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071596G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5274G>A	9.37:g.117071596G>A			Somatic				COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.E73E	p.E1758E	NM_032888	NP_116277	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			59	5274	+			1758			Fibrillar collagen NC1.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.5274G>A	CCDS6802.1																																																																																				0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		109	166	0	0	0	1	0	109	166					A	117071596	G	A	117071596	2	1	64	1	0	0	0	0	0	0	0	1	3685	991	35	2		2	COL27A1	9	117071596	Silent	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08	12714412	117071596	24141835	11	1199											
GTPBP4	23560	broad.mit.edu	37	10	1042091	1042091	+	Silent	SNP	C	C	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:1042091C>A	ENST00000360803.4	+	4	451	c.369C>A	c.(367-369)ctC>ctA	p.L123L	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L76L|GTPBP4_ENST00000538293.1_Silent_p.L7L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	123					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GCGACTCTCTCTACCGCTGCA	0.428																																						uc001ift.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(367-369)ctC>ctA		Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.							75	58	64					10																	1042091		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1042091C>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.369C>A	10.37:g.1042091C>A			Somatic				GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Silent_p.L7L|GTPBP4_uc010qae.2_Silent_p.L76L	p.L123L	NM_012341	NP_036473	WXS	Illumina GAIIx	Phase_I	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	3	440	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	123					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.369C>A	CCDS31132.1																																																																																				0.428	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		4	27	0	0	0	1	0	4	27					A	1042091	C	A	1042091	2	1	64	1	0	0	0	0	0	0	0	1	6882	900	32	4		4	GTPBP4	10	1042091	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		1042091	134492656	12	1200											
PFKFB3	5209	broad.mit.edu	37	10	6268161	6268161	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:6268161A>G	ENST00000379775.4	+	14	1678	c.1348A>G	c.(1348-1350)Aag>Gag	p.K450E	PFKFB3_ENST00000360521.2_Missense_Mutation_p.K450E|PFKFB3_ENST00000379789.4_Missense_Mutation_p.K430E|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Missense_Mutation_p.K450E|PFKFB3_ENST00000317350.4_Missense_Mutation_p.K450E|PFKFB3_ENST00000540253.1_Missense_Mutation_p.K464E|PFKFB3_ENST00000379782.3_Missense_Mutation_p.K450E	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	450	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TTAGGATGCAAAGAAGGGACC	0.483																																						uc010qaw.2																			0		p.P464Q(1)|p.P464L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1390-1392)Aag>Gag		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 2, mRNA.							102	115	111					10																	6268161		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6268161A>G		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1348A>G	10.37:g.6268161A>G	ENSP00000369100:p.Lys450Glu		Somatic				PFKFB3_uc001ijd.3_Missense_Mutation_p.K430E|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc001ije.3_Missense_Mutation_p.K450E|PFKFB3_uc001ijf.3_Missense_Mutation_p.K450E|PFKFB3_uc001ijg.3_Non-coding_Transcript|PFKFB3_uc009xij.3_Non-coding_Transcript|PFKFB3_uc009xik.3_Non-coding_Transcript|PFKFB3_uc009xil.3_Intron	p.K464E	NM_001145443	NP_001138915	WXS	Illumina GAIIx	Phase_I	Q16875	F263_HUMAN			13	1453	+			450			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.1390A>G	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400354|3.400354	0.62177|0.62177	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000379781;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499;ENST00000414237|ENST00000444592	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.053759|0.053759	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.63034|0.63034	0.2477|0.2477	L|L	0.55834|0.55834	1.745|1.745	0.58432|0.58432	D|D	0.999997|0.999997	B;P;B;P|.	0.49559|.	0.006;0.925;0.017;0.799|.	B;P;B;B|.	0.44561|.	0.005;0.453;0.005;0.162|.	T|T	0.58239|0.58239	-0.7671|-0.7671	9|7	0.07644|0.07813	T|T	0.81|0.8	0.2408|0.2408	15.1338|15.1338	0.72545|0.72545	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	464;450;450;430|.	B7Z955;Q16875-2;Q16875;Q5VX15|.	.;.;F263_HUMAN;.|.	E|R	430;464;44;450;450;450;450;450;450;19|83	.|.	ENSP00000369105:K450E|ENSP00000402055:K83R	K|K	+|+	1|2	0|0	PFKFB3|PFKFB3	6308167|6308167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.300000|8.300000	0.89948|0.89948	1.978000|1.978000	0.57642|0.57642	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.483	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			4	154	0	0	0	1	0	4	154					G	6268161	A	G	6268161	3	3	64	1	0	0	0	0	1	0	0	0	11762	15	1	3	1422	3	PFKFB3	10	6268161	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08	5226070	6268161	129266586	13	1201											
OGDHL	55753	broad.mit.edu	37	10	50952733	50952733	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:50952733A>C	ENST00000374103.4	-	13	1780	c.1695T>G	c.(1693-1695)atT>atG	p.I565M	OGDHL_ENST00000419399.1_Missense_Mutation_p.I508M|OGDHL_ENST00000432695.1_Missense_Mutation_p.I356M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	565					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTATATGCAGAATCTTTTTAT	0.527																																						uc009xog.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1774-1776)atT>atG		Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							138	132	134					10																	50952733		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952733A>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1695T>G	10.37:g.50952733A>C	ENSP00000363216:p.Ile565Met		Somatic				OGDHL_uc001jie.3_Missense_Mutation_p.I565M|OGDHL_uc010qgt.2_Missense_Mutation_p.I508M|OGDHL_uc010qgu.2_Missense_Mutation_p.I356M|OGDHL_uc009xoh.2_Missense_Mutation_p.I356M	p.I592M	NM_001143997	NP_001137469	WXS	Illumina GAIIx	Phase_I	Q9ULD0	OGDHL_HUMAN			11	1810	-			565					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1776T>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272938	0.59649	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95756	-3.8;-3.8;-3.8	5.6	1.03	0.20045	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	L	0.35414	1.06	0.49130	D	0.999757	P;P;P	0.51147	0.82;0.82;0.942	P;P;P	0.56343	0.693;0.62;0.796	D	0.90532	0.4496	10	0.40728	T	0.16	.	9.9538	0.41655	0.5623:0.0:0.4377:0.0	.	508;356;565	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	M	565;508;356	ENSP00000363216:I565M;ENSP00000401356:I508M;ENSP00000390240:I356M	ENSP00000363216:I565M	I	-	3	3	OGDHL	50622739	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.728000	0.26013	0.119000	0.18210	-0.128000	0.14901	ATT		0.527	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		5	109	0	0	0	1	0	5	109					C	50952733	A	C	50952733	3	2	64	1	0	0	0	0	1	0	0	0	10840	242	9	5	1381	5	OGDHL	10	50952733	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08	44684572	50952733	84582014	14	1202											
TSPAN15	23555	broad.mit.edu	37	10	71243586	71243586	+	Missense_Mutation	SNP	T	T	C	rs140708891	byFrequency	TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr10:71243586T>C	ENST00000373290.2	+	2	358	c.236T>C	c.(235-237)aTt>aCt	p.I79T		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	79					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GTCTCCTTCATTGGTGTGCTG	0.587																																						uc001jpo.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						c.(235-237)aTt>aCt		Homo sapiens tetraspanin 15 (TSPAN15), mRNA.		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	181	132	149		236	5.8	0.8	10	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TSPAN15	NM_012339.3	89	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign	79/295	71243586	2,13004	2203	4300	6503	SO:0001583	missense	23555					integral to plasma membrane|membrane fraction		g.chr10:71243586T>C	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"Tetraspanins"	23298	protein-coding gene	gene with protein product		613140	"transmembrane 4 superfamily member 15"	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.236T>C	10.37:g.71243586T>C	ENSP00000362387:p.Ile79Thr		Somatic					p.I79T	NM_012339	NP_036471	WXS	Illumina GAIIx	Phase_I	O95858	TSN15_HUMAN			1	361	+			79					Q6UW79	Missense_Mutation	SNP	ENST00000373290.2	37	c.236T>C	CCDS7294.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513579	0.85389	2.27E-4	1.16E-4	ENSG00000099282	ENST00000373290	T	0.79653	-1.29	5.81	5.81	0.92471	.	0.336350	0.31989	N	0.006758	T	0.77505	0.4140	L	0.31752	0.955	0.58432	D	0.999999	P	0.37038	0.579	P	0.45449	0.481	T	0.74293	-0.3712	10	0.23302	T	0.38	-5.1277	16.1403	0.81517	0.0:0.0:0.0:1.0	.	79	O95858	TSN15_HUMAN	T	79	ENSP00000362387:I79T	ENSP00000362387:I79T	I	+	2	0	TSPAN15	70913592	0.997000	0.39634	0.799000	0.32177	0.982000	0.71751	7.938000	0.87678	2.207000	0.71202	0.459000	0.35465	ATT		0.587	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339		4	96	0	0	0	1	0	4	96					C	71243586	T	C	71243586	3	2	64	1	0	0	0	0	1	0	0	0	16636	1493	52	3	242	3	TSPAN15	10	71243586	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08	20290853	71243586	64291161	15	1203											
TMED8	283578	broad.mit.edu	37	14	77812725	77812725	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr14:77812725C>A	ENST00000216468.7	-	3	349	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	98					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTGCAGGCAGCAAATCCTGTT	0.537																																						uc001xto.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(292-294)ttG>ttT		Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.							79	73	75					14																	77812725		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77812725C>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"family with sequence similarity 15, member B", "transmembrane emp24 domain containing 8"	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.294G>T	14.37:g.77812725C>A	ENSP00000216468:p.Leu98Phe		Somatic				TMED8_uc001xtn.1_5'Flank	p.L98F	NM_213601	NP_998766	WXS	Illumina GAIIx	Phase_I	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	294	-			98					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.294G>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784617	0.31593	.	.	ENSG00000100580	ENST00000216468	T	0.24151	1.87	5.57	2.3	0.28687	.	1.894180	0.02245	N	0.066120	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.25759	0.063	T	0.21895	-1.0232	10	0.41790	T	0.15	.	6.8403	0.23959	0.0:0.5709:0.1293:0.2998	.	98	Q6PL24	TMED8_HUMAN	F	98	ENSP00000216468:L98F	ENSP00000216468:L98F	L	-	3	2	TMED8	76882478	0.006000	0.16342	0.602000	0.28890	0.902000	0.53008	0.377000	0.20552	0.712000	0.32039	0.655000	0.94253	TTG		0.537	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		3	65	0	0	0	1	0	3	65					A	77812725	C	A	77812725	3	1	64	1	0	0	0	0	1	0	0	0	16008	709	25	4	698	4	TMED8	14	77812725	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		77812725	29536815	16	1204											
C16orf72	29035	broad.mit.edu	37	16	9197107	9197107	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr16:9197107G>A	ENST00000327827.7	+	3	971	c.574G>A	c.(574-576)Gct>Act	p.A192T	RP11-473I1.9_ENST00000574285.1_RNA|RP11-473I1.5_ENST00000565648.1_RNA	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	192										endometrium(4)|large_intestine(2)|lung(2)	8						GGAAGCCATAGCTCTGCATGG	0.463																																						uc002czm.3																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(574-576)Gct>Act		Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA.							49	49	49					16																	9197107		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9197107G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.574G>A	16.37:g.9197107G>A	ENSP00000331720:p.Ala192Thr		Somatic					p.A192T	NM_014117	NP_054836	WXS	Illumina GAIIx	Phase_I	Q14CZ0	CP072_HUMAN			2	939	+			192						Missense_Mutation	SNP	ENST00000327827.7	37	c.574G>A	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546807	0.96488	.	.	ENSG00000182831	ENST00000327827	T	0.50277	0.75	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.73091	-0.4092	10	0.87932	D	0	-17.9188	20.6721	0.99693	0.0:0.0:1.0:0.0	.	192	Q14CZ0	CP072_HUMAN	T	192	ENSP00000331720:A192T	ENSP00000331720:A192T	A	+	1	0	C16orf72	9104608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.894000	0.99253	0.591000	0.81541	GCT		0.463	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		5	53	0	0	0	1	0	5	53					A	9197107	G	A	9197107	3	1	64	1	0	0	0	0	1	0	0	0	1831	971	34	2	584	2	C16orf72	16	9197107	Missense_Mutation	SNP	G	TCGA-DJ-A13U-01A-11D-A10S-08		9197107	81157646	17	1205											
TRAF4	9618	broad.mit.edu	37	17	27074944	27074944	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr17:27074944T>A	ENST00000262395.5	+	3	408	c.279T>A	c.(277-279)agT>agA	p.S93R	TRAF4_ENST00000444415.3_Missense_Mutation_p.S93R|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Missense_Mutation_p.S93R|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	93					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCGCTGGAGTGGGCCACTAC	0.612																																						uc002hcs.3																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(277-279)agT>agA		Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.							85	70	75					17																	27074944		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:27074944T>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.279T>A	17.37:g.27074944T>A	ENSP00000262395:p.Ser93Arg		Somatic				TRAF4_uc002hcq.1_Missense_Mutation_p.S93R	p.S93R	NM_004295	NP_004286	WXS	Illumina GAIIx	Phase_I	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		2	387	+	Lung NSC(42;0.01)		93					O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.279T>A	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550526	0.45383	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396	T;T;T;T	0.32023	1.81;1.81;1.81;1.47	5.28	-4.2	0.03823	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.237917	0.48767	D	0.000175	T	0.19927	0.0479	L	0.43923	1.385	0.30617	N	0.758934	B;B	0.23650	0.089;0.08	B;B	0.20384	0.02;0.029	T	0.07986	-1.0744	10	0.39692	T	0.17	.	9.5234	0.39149	0.0:0.5401:0.1282:0.3317	.	93;93	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	R	93;93;100;93;93	ENSP00000262395:S93R;ENSP00000415789:S100R;ENSP00000438154:S93R;ENSP00000262396:S93R	ENSP00000262395:S93R	S	+	3	2	TRAF4	24099071	0.000000	0.05858	0.932000	0.37286	0.841000	0.47740	-2.643000	0.00862	-0.644000	0.05465	0.454000	0.30748	AGT		0.612	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		25	28	0	0	0	1	0	25	28					A	27074944	T	A	27074944	3	1	64	1	0	0	0	0	1	0	0	0	16440	1693	59	5	289	5	TRAF4	17	27074944	Missense_Mutation	SNP	T	TCGA-DJ-A13U-01A-11D-A10S-08		27074944	54120266	18	1206											
LILRB3	11025	broad.mit.edu	37	19	54722660	54722660	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr19:54722660C>T	ENST00000391750.1	-	10	1610	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	LILRA6_ENST00000270464.5_Missense_Mutation_p.E492K|LILRB3_ENST00000407860.2_Missense_Mutation_p.E509K|LILRB3_ENST00000245620.9_Missense_Mutation_p.E492K|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.E492K|LILRB3_ENST00000424807.1_Missense_Mutation_p.E492K|LILRB3_ENST00000346401.6_Missense_Mutation_p.E504K|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.E492K			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	492					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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;0.105)		TCCTTGGGCTCTGTCTCCGCA	0.577																																						uc010erh.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1525-1527)Gag>Aag		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.							112	114	114					19																	54722660		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54722660C>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1474G>A	19.37:g.54722660C>T	ENSP00000375630:p.Glu492Lys		Somatic				LILRB3_uc002qee.1_Missense_Mutation_p.E492K|LILRB3_uc002qef.1_Missense_Mutation_p.E492K|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.E492K|LILRB3_uc002qeh.1_Missense_Mutation_p.E492K|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.E492K|LILRB3_uc002qek.1_Missense_Mutation_p.E492K|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.E492K|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.E492K|LILRB3_uc002qep.1_Missense_Mutation_p.E492K|LILRB3_uc002qeq.1_Missense_Mutation_p.E492K	p.E509K	NM_006864	NP_006855	WXS	Illumina GAIIx	Phase_I	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1649	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		492					C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1525G>A	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906476	0.33628	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00493	7.04;7.04;7.0;7.05;7.1;7.04;7.01;7.03	2.95	0.629	0.17687	.	.	.	.	.	T	0.00724	0.0024	M	0.76328	2.33	0.09310	N	1	D;B;B;B;B;B;B	0.56968	0.978;0.39;0.255;0.149;0.34;0.23;0.042	P;B;B;B;B;B;B	0.51999	0.687;0.343;0.075;0.176;0.108;0.032;0.07	T	0.44877	-0.9299	9	0.13470	T	0.59	.	4.652	0.12599	0.0:0.6449:0.2237:0.1313	.	509;492;492;504;509;492;492	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	K	492;492;504;492;509;492;492;492	ENSP00000375630:E492K;ENSP00000412771:E492K;ENSP00000345184:E504K;ENSP00000245620:E492K;ENSP00000384274:E509K;ENSP00000390120:E492K;ENSP00000270464:E492K;ENSP00000411227:E492K	ENSP00000270464:E492K	E	-	1	0	LILRB3;LILRA6	59414472	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.159000	0.03150	0.274000	0.22072	0.447000	0.29281	GAG		0.577	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		4	113	0	0	0	1	0	4	113					T	54722660	C	T	54722660	3	4	64	1	0	0	0	0	1	0	0	0	8792	922	32	2	444	2	LILRB3	19	54722660	Missense_Mutation	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		54722660	4406323	19	1207											
NCAM2	4685	broad.mit.edu	37	21	22804492	22804492	+	Silent	SNP	C	C	A			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr21:22804492C>A	ENST00000400546.1	+	12	1794	c.1545C>A	c.(1543-1545)tcC>tcA	p.S515S	NCAM2_ENST00000284894.7_Silent_p.S373S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	515	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAAGGTTTCCTTCAACAAAC	0.453																																						uc002yld.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1543-1545)tcC>tcA		Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.							77	74	75					21																	22804492		1913	4135	6048	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804492C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1545C>A	21.37:g.22804492C>A			Somatic				NCAM2_uc011acb.2_Silent_p.S373S	p.S515S	NM_004540	NP_004531	WXS	Illumina GAIIx	Phase_I	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	11	1794	+		Lung NSC(9;0.195)	515			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1545C>A	CCDS42910.1																																																																																				0.453	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		7	79	0	0	0	1	0	7	79					A	22804492	C	A	22804492	2	1	64	1	0	0	0	0	0	0	0	1	10203	668	24	4		4	NCAM2	21	22804492	Silent	SNP	C	TCGA-DJ-A13U-01A-11D-A10S-08		22804492	25325403	20	1208											
TCN2	6948	broad.mit.edu	37	22	31008997	31008997	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13U-01A-11D-A10S-08	TCGA-DJ-A13U-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fa6f592-79f4-4ab1-88d3-ad6de13a2802	3e5c2d94-bbd8-42ba-ad64-36af735be8ef	g.chr22:31008997A>G	ENST00000215838.3	+	3	889	c.395A>G	c.(394-396)aAa>aGa	p.K132R	TCN2_ENST00000407817.3_Intron|TCN2_ENST00000405742.3_Missense_Mutation_p.K128R			P20062	TCO2_HUMAN	transcobalamin II	132					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACAGCTCAAATGGTTCCTG	0.582																																						uc003aip.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(394-396)aAa>aGa		Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						56	51	53					22																	31008997		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31008997A>G		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.395A>G	22.37:g.31008997A>G	ENSP00000215838:p.Lys132Arg		Somatic				TCN2_uc003air.2_Intron	p.K132R	NM_000355	NP_000346	WXS	Illumina GAIIx	Phase_I	P20062	TCO2_HUMAN			2	644	+			132					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.395A>G	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273698	0.80580	.	.	ENSG00000185339	ENST00000215838;ENST00000405742	T;T	0.13778	2.56;2.56	5.41	5.41	0.78517	.	0.042833	0.85682	D	0.000000	T	0.32496	0.0831	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.02220	-1.1193	10	0.29301	T	0.29	-28.4506	12.9695	0.58505	1.0:0.0:0.0:0.0	.	128;132	B5MBX2;P20062	.;TCO2_HUMAN	R	132;128	ENSP00000215838:K132R;ENSP00000385914:K128R	ENSP00000215838:K132R	K	+	2	0	TCN2	29338997	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.025000	0.64097	2.055000	0.61198	0.533000	0.62120	AAA		0.582	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		35	31	0	0	0	1	0	35	31					G	31008997	A	G	31008997	3	3	64	1	0	0	0	0	1	0	0	0	15704	14	1	3	405	3	TCN2	22	31008997	Missense_Mutation	SNP	A	TCGA-DJ-A13U-01A-11D-A10S-08		31008997	20295569	21	1209											
DNAJC13	23317	broad.mit.edu	37	3	132196865	132196865	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:132196865A>C	ENST00000260818.6	+	24	2838	c.2590A>C	c.(2590-2592)Acc>Ccc	p.T864P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	864					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTCTTGCTCACCCCAAAAGT	0.328																																						uc003eor.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2590-2592)Acc>Ccc		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.							78	80	79					3																	132196865		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196865A>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2590A>C	3.37:g.132196865A>C	ENSP00000260818:p.Thr864Pro		Somatic					p.T864P	NM_015268	NP_056083	WXS	Illumina GAIIx	Phase_I	O75165	DJC13_HUMAN			23	2655	+			864					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2590A>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391261	0.82902	.	.	ENSG00000138246	ENST00000260818	T	0.13420	2.59	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	M	0.64997	1.995	0.80722	D	1	D	0.54964	0.969	P	0.50352	0.638	T	0.01021	-1.1478	10	0.35671	T	0.21	.	15.7331	0.77822	1.0:0.0:0.0:0.0	.	864	O75165	DJC13_HUMAN	P	864	ENSP00000260818:T864P	ENSP00000260818:T864P	T	+	1	0	DNAJC13	133679555	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	8.743000	0.91592	2.169000	0.68431	0.528000	0.53228	ACC		0.328	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		67	69	0	0	0	1	0	67	69					C	132196865	A	C	132196865	3	2	65	1	0	0	0	0	1	0	0	0	4632	159	6	5	2680	5	DNAJC13	3	132196865	Missense_Mutation	SNP	A	TCGA-DJ-A13V-01A-11D-A10S-08		132196865	65825565	1	1210											
MCF2L2	23101	broad.mit.edu	37	3	182937644	182937644	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:182937644C>T	ENST00000328913.3	-	21	2667	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	MCF2L2_ENST00000473233.1_Splice_Site_p.K790K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	790	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TATTGAGTACCTTAGCCGAGC	0.363																																						uc003fli.1																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e21+1		Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.							61	62	62					3																	182937644		2203	4300	6503	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182937644C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2370+1G>A	3.37:g.182937644C>T			Somatic					p.K790_splice	NM_015078	NP_055893	WXS	Illumina GAIIx	Phase_I	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		21	2460	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		790			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	ENST00000328913.3	37	c.2370_splice	CCDS3243.1																																																																																				0.363	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Silent	36	74	0	0	0	1	0	36	74					T	182937644	C	T	182937644	5	4	65	1	0	0	0	0	0	0	1	0	9380	695	24	2	1014	2	MCF2L2	3	182937644	Splice_Site	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	50740779	182937644	15084786	2	1211											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	76	0	0	0	1	0	33	76					T	140453136	A	T	140453136	3	4	65	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13V-01A-11D-A10S-08		140453136	18685527	3	1212											
NUP214	8021	broad.mit.edu	37	9	134019854	134019854	+	Silent	SNP	G	G	A	rs147598578	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr9:134019854G>A	ENST00000359428.5	+	12	1626	c.1482G>A	c.(1480-1482)acG>acA	p.T494T	RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000411637.2_Silent_p.T494T|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Silent_p.T494T|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	494	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CATCTGCTACGGTCACTGGGG	0.542			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1480-1482)acG>acA		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							168	172	170					9																	134019854		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134019854G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1482G>A	9.37:g.134019854G>A			Somatic				NUP214_uc004cah.3_Silent_p.T494T|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Silent_p.T494T|NUP214_uc010mzf.3_5'UTR	p.T494T	NM_005085	NP_005076	WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	11	1593	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	494			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.1482G>A	CCDS6940.1																																																																																				0.542	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		7	332	0	0	0	1	0	7	332					A	134019854	G	A	134019854	2	1	65	1	0	0	0	0	0	0	0	1	10762	1103	39	1		1	NUP214	9	134019854	Silent	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		134019854	7193577	4	1213											
TECTA	7007	broad.mit.edu	37	11	120989075	120989075	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr11:120989075G>A	ENST00000392793.1	+	7	1122	c.851G>A	c.(850-852)cGc>cAc	p.R284H	TECTA_ENST00000264037.2_Missense_Mutation_p.R284H			O75443	TECTA_HUMAN	tectorin alpha	284	VWFC.		R -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R284H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAAGTGCCGCTGTCTGGAT	0.507																																						uc010rzo.2																		TECTA/TBCEL(2)	1	Substitution - Missense(1)	p.R284H(2)	breast(1)	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.(850-852)cGc>cAc		Homo sapiens tectorin alpha (TECTA), mRNA.							86	83	84					11																	120989075		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989075G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.851G>A	11.37:g.120989075G>A	ENSP00000376543:p.Arg284His		Somatic					p.R284H	NM_005422	NP_005413	WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	5	851	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	284		R -> H (in a breast cancer sample; somatic mutation).	VWFC.			Missense_Mutation	SNP	ENST00000392793.1	37	c.851G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684232	0.88639	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.65549	-0.16;-0.16	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	L	0.60845	1.875	0.45403	D	0.998384	D	0.89917	1.0	D	0.83275	0.996	T	0.76277	-0.3018	10	0.48119	T	0.1	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	284	O75443	TECTA_HUMAN	H	284	ENSP00000376543:R284H;ENSP00000264037:R284H	ENSP00000264037:R284H	R	+	2	0	TECTA	120494285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.022000	0.88759	2.668000	0.90789	0.563000	0.77884	CGC		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	77	0	0	0	1	0	8	77					A	120989075	G	A	120989075	3	1	65	1	0	0	0	0	1	0	0	0	15744	1087	38	1	873	1	TECTA	11	120989075	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		120989075	14017441	5	1214											
CDH8	1006	broad.mit.edu	37	16	62055204	62055204	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr16:62055204G>C	ENST00000577390.1	-	2	1058	c.104C>G	c.(103-105)tCt>tGt	p.S35C	CDH8_ENST00000299345.6_Missense_Mutation_p.S35C|CDH8_ENST00000577730.1_Missense_Mutation_p.S35C|CDH8_ENST00000584337.1_Missense_Mutation_p.S35C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	35					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAAACTTGAGACTGATTCAT	0.438																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(103-105)tCt>tGt		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							82	83	82					16																	62055204		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055204G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.104C>G	16.37:g.62055204G>C	ENSP00000462701:p.Ser35Cys		Somatic					p.S35C	NM_001796	NP_001787	WXS	Illumina GAIIx	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	1	1059	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	35					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.104C>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548706	0.65311	.	.	ENSG00000150394	ENST00000299345	T	0.56611	0.45	6.17	6.17	0.99709	.	0.393126	0.29410	N	0.012237	T	0.57066	0.2028	L	0.55481	1.735	0.45946	D	0.99877	B	0.26876	0.162	B	0.32980	0.156	T	0.52056	-0.8626	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	35	P55286	CADH8_HUMAN	C	35	ENSP00000299345:S35C	ENSP00000299345:S35C	S	-	2	0	CDH8	60612705	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.148000	0.94652	2.941000	0.99782	0.655000	0.94253	TCT		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		4	85	0	0	0	1	0	4	85					C	62055204	G	C	62055204	3	2	65	1	0	0	0	0	1	0	0	0	3116	942	33	4	2339	4	CDH8	16	62055204	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		62055204	28299549	6	1215											
ALOXE3	59344	broad.mit.edu	37	17	8012504	8012504	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr17:8012504G>A	ENST00000448843.2	-	12	1890	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	ALOXE3_ENST00000380149.1_Missense_Mutation_p.A673V|ALOXE3_ENST00000318227.3_Missense_Mutation_p.A649V	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	517	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTCAATGGCCGCCCAGATCTT	0.652																																						uc002gka.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(2017-2019)gCg>gTg		Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.							54	50	52					17																	8012504		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8012504G>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"Arachidonate lipoxygenases"	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1550C>T	17.37:g.8012504G>A	ENSP00000400581:p.Ala517Val		Somatic				ALOXE3_uc010cnr.3_Missense_Mutation_p.A517V|ALOXE3_uc010vuo.2_Missense_Mutation_p.A649V	p.A673V	NM_021628	NP_067641	WXS	Illumina GAIIx	Phase_I	Q9BYJ1	LOXE3_HUMAN			10	2049	-			517			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.2018C>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866687	0.32977	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90133	-2.62;-2.62;-2.62	5.07	1.72	0.24424	Lipoxygenase, C-terminal (3);	0.590997	0.19378	N	0.115723	D	0.86916	0.6048	L	0.49126	1.545	0.09310	N	1	P;P;P	0.44309	0.832;0.657;0.657	P;B;B	0.44561	0.453;0.23;0.23	T	0.77640	-0.2512	10	0.42905	T	0.14	-8.5284	7.1872	0.25806	0.0741:0.2085:0.602:0.1153	.	649;517;517	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	V	673;649;517	ENSP00000369494:A673V;ENSP00000314879:A649V;ENSP00000400581:A517V	ENSP00000314879:A649V	A	-	2	0	ALOXE3	7953229	0.256000	0.24012	0.451000	0.26982	0.669000	0.39330	0.655000	0.24933	0.326000	0.23384	-1.134000	0.01955	GCG		0.652	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			38	38	0	0	0	1	0	38	38					A	8012504	G	A	8012504	3	1	65	1	0	0	0	0	1	0	0	0	542	1087	38	1	605	1	ALOXE3	17	8012504	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		8012504	73182706	7	1216											
MUC16	94025	broad.mit.edu	37	19	8987282	8987282	+	Silent	SNP	C	C	T	rs150582315		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr19:8987282C>T	ENST00000397910.4	-	68	42008	c.41805G>A	c.(41803-41805)ctG>ctA	p.L13935L	MUC16_ENST00000380951.5_Silent_p.L576L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13960				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						CCATGTAGCGCAGGTTGTTGA	0.597													c|||	1	0.000199681	0	0	5008	,	,		13301	0.001		0	False		,,,				2504	0					uc002mkp.3																			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.(41803-41805)ctG>ctA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							118	118	118					19																	8987282		2148	4262	6410	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8987282C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41805G>A	19.37:g.8987282C>T			Somatic				MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L752L|MUC16_uc021uog.1_Non-coding_Transcript	p.L13935L	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			67	42009	-			13960	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41805G>A	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.635	-0.815552	0.02776	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.45	-0.292	0.12839	.	.	.	.	.	T	0.26448	0.0646	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29518	-1.0009	3	.	.	.	.	2.1927	0.03903	0.1975:0.4943:0.1925:0.1156	.	.	.	.	Y	775	.	.	C	-	2	0	MUC16	8848282	0.969000	0.33509	0.995000	0.50966	0.074000	0.17049	-0.173000	0.09854	0.054000	0.16065	0.460000	0.39030	TGC		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	47	0	0	0	1	0	13	47					T	8987282	C	T	8987282	2	4	65	1	0	0	0	0	0	0	0	1	9973	697	25	2		2	MUC16	19	8987282	Silent	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08		8987282	50141701	8	1217											
NRIP1	8204	broad.mit.edu	37	21	16338129	16338129	+	Silent	SNP	T	T	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:16338129T>C	ENST00000400202.1	-	3	3097	c.2385A>G	c.(2383-2385)ttA>ttG	p.L795L	NRIP1_ENST00000400199.1_Silent_p.L795L|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Silent_p.L795L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	795	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CGGACACTGGTAAGGCAGGTG	0.448																																						uc002yjx.2																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(2383-2385)ttA>ttG		Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.							63	64	64					21																	16338129		2203	4299	6502	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338129T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2385A>G	21.37:g.16338129T>C			Somatic				NRIP1_uc021whl.1_Silent_p.L795L	p.L795L	NM_003489	NP_003480	WXS	Illumina GAIIx	Phase_I	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2983	-			795			Repression domain 3.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.2385A>G	CCDS13568.1																																																																																				0.448	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		5	91	0	0	0	1	0	5	91					C	16338129	T	C	16338129	2	2	65	1	0	0	0	0	0	0	0	1	10652	1635	57	3		3	NRIP1	21	16338129	Silent	SNP	T	TCGA-DJ-A13V-01A-11D-A10S-08		16338129	31791766	9	1218											
KRTAP10-1	386677	broad.mit.edu	37	21	45959307	45959307	+	Missense_Mutation	SNP	C	C	T	rs372126563		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:45959307C>T	ENST00000400375.1	-	1	771	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	243	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						ATACAGCAGGCGGGCCGGCAT	0.706																																						uc002zfh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(727-729)Gcc>Acc		Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.		C	,THR/ALA	0,4406		0,0,2203	59	68	65		,727	1.9	0.1	21		65	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TSPEAR,KRTAP10-1	NM_144991.2,NM_198691.2	,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,243/283	45959307	1,13005	2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959307C>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.727G>A	21.37:g.45959307C>T	ENSP00000383226:p.Ala243Thr		Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.A243T	NM_198691	NP_941964	WXS	Illumina GAIIx	Phase_I	P60331	KR101_HUMAN			0	772	-			243			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.727G>A	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	c	0.483	-0.878771	0.02550	0.0	1.16E-4	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01313	5.02	3.79	1.93	0.25924	.	.	.	.	.	T	0.00845	0.0028	N	0.04043	-0.29	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.49293	-0.8955	9	0.34782	T	0.22	.	5.672	0.17728	0.1563:0.6479:0.0:0.1958	.	243	P60331	KR101_HUMAN	T	243	ENSP00000383226:A243T	ENSP00000383226:A243T	A	-	1	0	KRTAP10-1	44783735	0.000000	0.05858	0.080000	0.20451	0.002000	0.02628	-0.531000	0.06171	0.074000	0.16767	-1.094000	0.02160	GCC		0.706	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			33	72	0	0	0	1	0	33	72					T	45959307	C	T	45959307	3	4	65	1	0	0	0	0	1	0	0	0	8505	768	27	1	125	1	KRTAP10-1	21	45959307	Missense_Mutation	SNP	C	TCGA-DJ-A13V-01A-11D-A10S-08	29621178	45959307	2170588	10	1219											
FAM133A	286499	broad.mit.edu	37	X	92964801	92964801	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chrX:92964801G>T	ENST00000355813.5	+	4	909	c.383G>T	c.(382-384)gGa>gTa	p.G128V	FAM133A_ENST00000322139.4_Missense_Mutation_p.G128V|FAM133A_ENST00000332647.4_Missense_Mutation_p.G128V|FAM133A_ENST00000538690.1_Missense_Mutation_p.G128V	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	128	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGAAACAAGGAAAAAGGAGA	0.368																																						uc022bzw.1																			0		p.G128*(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(382-384)gGa>gTa		Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.							20	18	19					X																	92964801		2195	4285	6480	SO:0001583	missense	286499							g.chrX:92964801G>T	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.383G>T	X.37:g.92964801G>T	ENSP00000348067:p.Gly128Val		Somatic				FAM133A_uc022bzu.1_Missense_Mutation_p.G128V|FAM133A_uc004efr.2_Missense_Mutation_p.G128V|FAM133A_uc022bzv.1_Missense_Mutation_p.G128V|FAM133A_uc022bzx.1_Missense_Mutation_p.G128V	p.G128V	NM_001171111	NP_775969	WXS	Illumina GAIIx	Phase_I	Q8N9E0	F133A_HUMAN			2	820	+			128			Lys-rich.|Ser-rich.			Missense_Mutation	SNP	ENST00000355813.5	37	c.383G>T	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	g	9.530	1.110640	0.20714	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.0	2.11	0.27256	.	0.475657	0.23426	N	0.048302	T	0.37128	0.0992	M	0.65975	2.015	0.35709	D	0.816211	B	0.11235	0.004	B	0.12837	0.008	T	0.38672	-0.9650	10	0.49607	T	0.09	-2.7748	6.5407	0.22378	0.0:0.0:0.7142:0.2858	.	128	Q8N9E0	F133A_HUMAN	V	128	ENSP00000441389:G128V;ENSP00000348067:G128V;ENSP00000318974:G128V;ENSP00000362169:G128V	ENSP00000318974:G128V	G	+	2	0	FAM133A	92851457	0.821000	0.29204	0.655000	0.29622	0.829000	0.46940	1.030000	0.30153	0.643000	0.30638	0.597000	0.82753	GGA		0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		6	19	0	0	0	1	0	6	19					T	92964801	G	T	92964801	3	4	65	1	0	0	0	0	1	0	0	0	5443	1174	41	4	385	4	FAM133A	23	92964801	Missense_Mutation	SNP	G	TCGA-DJ-A13V-01A-11D-A10S-08		92964801	62305759	11	1220											
CLCC1	23155	broad.mit.edu	37	1	109492526	109492526	+	Silent	SNP	T	T	C			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:109492526T>C	ENST00000369971.2	-	3	276	c.147A>G	c.(145-147)tcA>tcG	p.S49S	CLCC1_ENST00000369969.2_Silent_p.S49S|CLCC1_ENST00000348264.2_Silent_p.S49S|CLCC1_ENST00000369970.3_Silent_p.S49S|CLCC1_ENST00000415331.1_Silent_p.S49S|CLCC1_ENST00000369968.2_Silent_p.S49S|CLCC1_ENST00000302500.4_Silent_p.S49S|CLCC1_ENST00000356970.2_Silent_p.S49S|CLCC1_ENST00000369976.1_Silent_p.S49S|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	49						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CCTTTTCCCCTGAAATACCAT	0.294																																						uc001dwf.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(145-147)tcA>tcG		Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.							56	57	57					1																	109492526		2203	4290	6493	SO:0001819	synonymous_variant	23155					Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus		g.chr1:109492526T>C	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.147A>G	1.37:g.109492526T>C			Somatic				AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Silent_p.S49S|CLCC1_uc021ora.1_Silent_p.S49S|CLCC1_uc009wes.1_Silent_p.S49S|CLCC1_uc009wet.1_Silent_p.S49S|CLCC1_uc001dwh.1_Silent_p.S49S	p.S49S	NM_001048210	NP_001041675	WXS	Illumina GAIIx	Phase_I	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	2	277	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	49					O94861|Q8WYP8|Q8WYP9|Q9BU25	Silent	SNP	ENST00000369971.2	37	c.147A>G	CCDS41362.1																																																																																				0.294	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		4	89	0	0	0	1	0	4	89					C	109492526	T	C	109492526	2	2	66	1	0	0	0	0	0	0	0	1	3460	1567	55	3		3	CLCC1	1	109492526	Silent	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08		109492526	139758095	1	1221											
RAB25	57111	broad.mit.edu	37	1	156038145	156038145	+	Silent	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:156038145G>A	ENST00000361084.5	+	3	565	c.324G>A	c.(322-324)aaG>aaA	p.K108K	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	108					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GATGGCTGAAGGAGCTCTATG	0.582																																						uc001fnc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(322-324)aaG>aaA		Homo sapiens RAB25, member RAS oncogene family (RAB25), mRNA.							106	109	108					1																	156038145		2155	4271	6426	SO:0001819	synonymous_variant	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038145G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.324G>A	1.37:g.156038145G>A			Somatic					p.K108K	NM_020387	NP_065120	WXS	Illumina GAIIx	Phase_I	P57735	RAB25_HUMAN			2	550	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		108					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Silent	SNP	ENST00000361084.5	37	c.324G>A	CCDS41413.1																																																																																				0.582	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			5	211	0	0	0	1	0	5	211					A	156038145	G	A	156038145	2	1	66	1	0	0	0	0	0	0	0	1	12912	991	35	2		2	RAB25	1	156038145	Silent	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	46545619	156038145	93212476	2	1222											
SCYL3	57147	broad.mit.edu	37	1	169857896	169857896	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:169857896G>T	ENST00000367770.1	-	1	133	c.86C>A	c.(85-87)gCt>gAt	p.A29D	SCYL3_ENST00000367771.6_Missense_Mutation_p.A29D|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.A29D			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	29	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGCAGTACAGCGGGATAAAC	0.418																																						uc001ggs.2																			0		p.P28P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(85-87)gCt>gAt		Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.							190	176	181					1																	169857896		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169857896G>T	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.86C>A	1.37:g.169857896G>T	ENSP00000356744:p.Ala29Asp		Somatic				SCYL3_uc001ggt.2_Missense_Mutation_p.A29D	p.A29D	NM_181093	NP_851607	WXS	Illumina GAIIx	Phase_I	Q8IZE3	PACE1_HUMAN			1	284	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		29			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.86C>A	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126210	0.94429	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.30448	1.53;2.15;1.53;2.07	5.28	5.28	0.74379	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051561	0.85682	D	0.000000	T	0.51449	0.1675	M	0.78456	2.415	0.80722	D	1	D;D	0.71674	0.99;0.998	D;D	0.75484	0.947;0.986	T	0.51100	-0.8748	9	.	.	.	-12.1116	18.8736	0.92325	0.0:0.0:1.0:0.0	.	29;29	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	D	29	ENSP00000356746:A29D;ENSP00000356745:A29D;ENSP00000356744:A29D;ENSP00000407993:A29D	.	A	-	2	0	SCYL3	168124520	1.000000	0.71417	0.116000	0.21606	0.985000	0.73830	9.130000	0.94437	2.623000	0.88846	0.655000	0.94253	GCT		0.418	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		4	112	0	0	0	1	0	4	112					T	169857896	G	T	169857896	3	4	66	1	0	0	0	0	1	0	0	0	13949	971	34	4	2194	4	SCYL3	1	169857896	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	13819751	169857896	79392725	3	1223											
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T	rs202209437		TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr1:248224344C>T	ENST00000359959.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	121						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)			GGCCTATGATCGTTACATTGC	0.443																																						uc001idx.1																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(361-363)Cgt>Tgt		Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.							265	269	268					1																	248224344		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224344C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.361C>T	1.37:g.248224344C>T	ENSP00000353044:p.Arg121Cys		Somatic				OR2L13_uc001ids.3_Intron	p.R121C	NM_001004687	NP_001004687	WXS	Illumina GAIIx	Phase_I	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	361	+	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)		121					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.361C>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	9.444	1.088746	0.20390	.	.	ENSG00000198128	ENST00000359959	T	0.77358	-1.09	1.91	0.938	0.19500	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.74711	0.3752	M	0.79614	2.46	0.41081	D	0.985523	B	0.22983	0.078	B	0.20184	0.028	T	0.69614	-0.5098	10	0.66056	D	0.02	.	7.9507	0.30012	0.0:0.8623:0.0:0.1377	.	121	Q8NG85	OR2L3_HUMAN	C	121	ENSP00000353044:R121C	ENSP00000353044:R121C	R	+	1	0	OR2L3	246290967	0.003000	0.15002	0.008000	0.14137	0.005000	0.04900	-0.032000	0.12266	0.121000	0.18284	-0.379000	0.06801	CGT		0.443	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		136	182	0	0	0	1	0	136	182					T	248224344	C	T	248224344	3	4	66	1	0	0	0	0	1	0	0	0	11008	884	31	1	363	1	OR2L3	1	248224344	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	78366448	248224344	1026277	4	1224											
TNS1	7145	broad.mit.edu	37	2	218696243	218696243	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr2:218696243G>C	ENST00000171887.4	-	20	3385	c.2933C>G	c.(2932-2934)aCa>aGa	p.T978R	TNS1_ENST00000419504.1_Missense_Mutation_p.T978R|TNS1_ENST00000430930.1_Missense_Mutation_p.T978R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	978					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGACAGGGGTGTCTTGGCCAG	0.652																																						uc002vgt.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2932-2934)aCa>aGa		Homo sapiens tensin 1 (TNS1), mRNA.							37	36	36					2																	218696243		2203	4299	6502	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218696243G>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2933C>G	2.37:g.218696243G>C	ENSP00000171887:p.Thr978Arg		Somatic				TNS1_uc002vgr.2_Missense_Mutation_p.T978R|TNS1_uc002vgs.2_Missense_Mutation_p.T978R|TNS1_uc010zjv.1_Missense_Mutation_p.T978R	p.T978R	NM_022648	NP_072174	WXS	Illumina GAIIx	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	19	3331	-		Renal(207;0.0483)|Lung NSC(271;0.213)	978					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2933C>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330953	0.81690	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.93712	-3.12;1.66;-3.27;-3.19	5.02	5.02	0.67125	.	0.724631	0.11103	U	0.599381	D	0.95348	0.8490	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.961	D	0.94282	0.7521	10	0.72032	D	0.01	.	18.1161	0.89555	0.0:0.0:1.0:0.0	.	978;978;978	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	R	978;137;978;978	ENSP00000171887:T978R;ENSP00000394171:T137R;ENSP00000408724:T978R;ENSP00000406016:T978R	ENSP00000171887:T978R	T	-	2	0	TNS1	218404488	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.437000	0.90302	2.593000	0.87608	0.561000	0.74099	ACA		0.652	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		8	14	0	0	0	1	0	8	14					C	218696243	G	C	218696243	3	2	66	1	0	0	0	0	1	0	0	0	16340	1377	48	4	2330	4	TNS1	2	218696243	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		218696243	24503130	5	1225											
ABI3BP	25890	broad.mit.edu	37	3	100567712	100567712	+	Silent	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:100567712C>T	ENST00000284322.5	-	16	1492	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	ABI3BP_ENST00000471714.1_Silent_p.Q510Q|ABI3BP_ENST00000495063.1_Silent_p.Q510Q|ABI3BP_ENST00000383691.4_5'Flank	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	461	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGTAGTTTGCTGGGGAGCTG	0.398																																						uc003dun.3																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1381-1383)caG>caA		Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.							140	137	138					3																	100567712		1816	4082	5898	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100567712C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1383G>A	3.37:g.100567712C>T			Somatic				ABI3BP_uc003duo.2_Silent_p.Q503Q|ABI3BP_uc011bhd.2_5'Flank|ABI3BP_uc003dum.3_5'Flank	p.Q461Q	NM_015429	NP_056244	WXS	Illumina GAIIx	Phase_I	Q7Z7G0	TARSH_HUMAN			15	1468	-			461			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.1383G>A	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	6.943	0.543762	0.13312	.	.	ENSG00000154175	ENST00000533855	.	.	.	5.75	1.94	0.25998	.	.	.	.	.	T	0.36358	0.0964	.	.	.	0.21290	N	0.999736	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	0.6235	9.813	0.40835	0.0:0.6452:0.0:0.3548	.	.	.	.	N	139	.	.	S	-	2	0	ABI3BP	102050402	0.018000	0.18449	0.955000	0.39395	0.970000	0.65996	0.070000	0.14573	0.454000	0.26884	-0.145000	0.13849	AGC		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	75	0	0	0	1	0	3	75					T	100567712	C	T	100567712	2	4	66	1	0	0	0	0	0	0	0	1	91	796	28	2		2	ABI3BP	3	100567712	Silent	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		100567712	97454718	6	1226											
EPHB1	2047	broad.mit.edu	37	3	134670486	134670486	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:134670486C>T	ENST00000398015.3	+	3	767	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	133	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCTGAGGCCCCCTACCTCAA	0.507																																						uc003eqt.3																			0		p.A132T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(397-399)Ccc>Tcc		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							117	117	117					3																	134670486		2002	4220	6222	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670486C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.397C>T	3.37:g.134670486C>T	ENSP00000381097:p.Pro133Ser		Somatic				EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.P133S	p.P133S	NM_004441	NP_004432	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			2	772	+			133					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.397C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358433	0.82243	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000474732	T;T;T	0.03386	3.95;3.95;3.95	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01118	-1.1446	10	0.36615	T	0.2	.	19.3701	0.94480	0.0:1.0:0.0:0.0	.	133;133	B5A969;P54762	.;EPHB1_HUMAN	S	111;133;111	ENSP00000417435:P111S;ENSP00000381097:P133S;ENSP00000418352:P111S	ENSP00000381097:P133S	P	+	1	0	EPHB1	136153176	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.574000	0.86865	0.650000	0.86243	CCC		0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		72	182	0	0	0	1	0	72	182					T	134670486	C	T	134670486	3	4	66	1	0	0	0	0	1	0	0	0	5174	623	22	2	407	2	EPHB1	3	134670486	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	34102774	134670486	63351944	7	1227											
SEC62	7095	broad.mit.edu	37	3	169700673	169700673	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr3:169700673G>A	ENST00000337002.4	+	4	488	c.430G>A	c.(430-432)Gat>Aat	p.D144N	SEC62_ENST00000480708.1_Missense_Mutation_p.D144N|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	144					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						gaaaaaaaaagatggtgaaaa	0.289																																						uc003fgg.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(430-432)Gat>Aat		Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.							20	23	22					3																	169700673		2061	4208	6269	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700673G>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.430G>A	3.37:g.169700673G>A	ENSP00000337688:p.Asp144Asn		Somatic				SEC62_uc003fgh.3_Missense_Mutation_p.D144N	p.D144N	NM_003262	NP_003253	WXS	Illumina GAIIx	Phase_I	Q99442	SEC62_HUMAN			3	461	+			144					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.430G>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546577	0.65198	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	D;D	0.83163	-1.69;-1.69	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.422619	0.28465	N	0.015260	T	0.76863	0.4047	L	0.46157	1.445	0.50813	D	0.999892	P	0.37914	0.611	B	0.35240	0.198	T	0.73646	-0.3917	10	0.15499	T	0.54	-6.1389	15.8813	0.79207	0.0:0.0:0.864:0.136	.	144	Q99442	SEC62_HUMAN	N	144	ENSP00000337688:D144N;ENSP00000420331:D144N	ENSP00000337688:D144N	D	+	1	0	SEC62	171183367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.561000	0.53770	2.700000	0.92200	0.585000	0.79938	GAT		0.289	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			3	48	0	0	0	1	0	3	48					A	169700673	G	A	169700673	3	1	66	1	0	0	0	0	1	0	0	0	14004	942	33	2	444	2	SEC62	3	169700673	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08	35030187	169700673	28321757	8	1228											
C6orf125	84300	broad.mit.edu	37	6	33669185	33669185	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr6:33669185C>G	ENST00000607484.1	-	2	191	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	UQCC2_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	51					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TCACAGGCCTCAGGCTCTGCA	0.473																																						uc003ofa.1																			0											c.(151-153)Gag>Cag		Homo sapiens chromosome 6 open reading frame 125 (C6orf125), mRNA.							137	132	134					6																	33669185		2203	4300	6503	SO:0001583	missense	84300							g.chr6:33669185C>G		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"Mitochondrial respiratory chain complex assembly factors"	21237	protein-coding gene	gene with protein product	"cytochrome B protein synthesis 6 homolog (S. cerevisiae)"	614461	"chromosome 6 open reading frame 125", "mitochondrial nucleoid factor 1"	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.151G>C	6.37:g.33669185C>G	ENSP00000476140:p.Glu51Gln		Somatic				MNF1_uc003oez.1_5'Flank|MNF1_uc010jve.1_Non-coding_Transcript	p.E51Q	NM_032340	NP_115716	WXS	Illumina GAIIx	Phase_I	Q9BRT2	CF125_HUMAN			1	192	-			51					B2R4I0	Missense_Mutation	SNP	ENST00000607484.1	37	c.151G>C	CCDS4784.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941362	0.92526	.	.	ENSG00000137288	ENST00000374231	.	.	.	6.02	6.02	0.97574	.	0.106734	0.64402	D	0.000007	T	0.73202	0.3557	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.71842	-0.4470	9	0.51188	T	0.08	.	18.7213	0.91694	0.0:1.0:0.0:0.0	.	51	Q9BRT2	CF125_HUMAN	Q	51	.	ENSP00000363348:E51Q	E	-	1	0	C6orf125	33777163	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	5.038000	0.64177	2.865000	0.98341	0.655000	0.94253	GAG		0.473	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		6	143	0	0	0	1	0	6	143					G	33669185	C	G	33669185	3	3	66	1	0	0	0	0	1	0	0	0	2325	835	29	4	241	4	C6orf125	6	33669185	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		33669185	137445882	9	1229											
CACNA1B	774	broad.mit.edu	37	9	140809138	140809138	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr9:140809138G>A	ENST00000371372.1	+	5	800	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A219T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A219T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A219T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	219					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)	CATCATGAAGGCCATGGTTCC	0.557																																						uc004cog.3																			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.(655-657)Gcc>Acc		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						119	117	118					9																	140809138		2114	4227	6341	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.chr9:140809138G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.655G>A	9.37:g.140809138G>A	ENSP00000360423:p.Ala219Thr		Somatic				CACNA1B_uc022bqn.1_Missense_Mutation_p.A219T	p.A219T	NM_000718	NP_000709	WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	4	800	+	all_cancers(76;0.166)		219					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.655G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119467	0.77323	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97	4.34	4.34	0.51931	.	0.057086	0.64402	D	0.000001	D	0.99048	0.9674	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99560	1.0968	10	0.87932	D	0	.	17.0399	0.86486	0.0:0.0:1.0:0.0	.	219	B1AQK6	.	T	219	ENSP00000360423:A219T;ENSP00000277551:A219T;ENSP00000360414:A219T;ENSP00000360408:A219T;ENSP00000360406:A219T	ENSP00000277551:A219T	A	+	1	0	CACNA1B	139928959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.478000	0.97927	2.218000	0.71995	0.561000	0.74099	GCC		0.557	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		12	29	0	0	0	1	0	12	29					A	140809138	G	A	140809138	3	1	66	1	0	0	0	0	1	0	0	0	2539	1203	42	2	673	2	CACNA1B	9	140809138	Missense_Mutation	SNP	G	TCGA-DJ-A13W-01A-11D-A10S-08		140809138	404293	10	1230											
TPH2	121278	broad.mit.edu	37	12	72388217	72388217	+	Splice_Site	SNP	A	A	G			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:72388217A>G	ENST00000333850.3	+	8	1082		c.e8-1			NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2						aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTTTTTTGTCAGAGACACATG	0.393																																						uc009zrw.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.e8-2		Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	L-Tryptophan(DB00150)						140	136	137					12																	72388217		2203	4300	6503	SO:0001630	splice_region_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72388217A>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.942-1A>G	12.37:g.72388217A>G			Somatic				TPH2_uc001swy.2_Splice_Site_p.P224_splice	p.P314_splice	NM_173353	NP_775489	WXS	Illumina GAIIx	Phase_I	Q8IWU9	TPH2_HUMAN			8	1083	+			314					A6NGA4|Q14CB0	Splice_Site	SNP	ENST00000333850.3	37	c.942_splice	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070149	0.55539	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPH2	70674484	1.000000	0.71417	0.969000	0.41365	0.364000	0.29643	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	.		0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	Intron	82	101	0	0	0	1	0	82	101					G	72388217	A	G	72388217	5	3	66	1	0	0	0	0	0	0	1	0	16399	202	7	3	970	3	TPH2	12	72388217	Splice_Site	SNP	A	TCGA-DJ-A13W-01A-11D-A10S-08		72388217	61463678	11	1231											
NAV3	89795	broad.mit.edu	37	12	78515989	78515989	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr12:78515989C>T	ENST00000397909.2	+	16	4192	c.4019C>T	c.(4018-4020)aCa>aTa	p.T1340I	NAV3_ENST00000536525.2_Missense_Mutation_p.T1340I|NAV3_ENST00000228327.6_Missense_Mutation_p.T1340I|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1340	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACTCTTTCACATCAGGTGGT	0.517										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4018-4020)aCa>aTa		Homo sapiens neuron navigator 3 (NAV3), mRNA.							87	86	86					12																	78515989		2011	4188	6199	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515989C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4019C>T	12.37:g.78515989C>T	ENSP00000381007:p.Thr1340Ile	HNSCC(70;0.22)	Somatic				NAV3_uc001syo.3_Missense_Mutation_p.T1340I|NAV3_uc010sub.2_Missense_Mutation_p.T840I|NAV3_uc009zsf.3_Intron	p.T1340I	NM_014903	NP_055718	WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			15	4192	+			1340			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4019C>T		.	.	.	.	.	.	.	.	.	.	C	19.20	3.781644	0.70222	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.27557	1.66;1.66;1.66	5.96	5.96	0.96718	.	0.000000	0.41294	U	0.000917	T	0.41604	0.1166	L	0.36672	1.1	0.80722	D	1	D;D;B	0.57571	0.959;0.98;0.302	P;P;B	0.53035	0.716;0.696;0.146	T	0.11916	-1.0568	10	0.62326	D	0.03	-17.9749	20.4082	0.99013	0.0:1.0:0.0:0.0	.	1340;1340;1340	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	I	1340	ENSP00000446132:T1340I;ENSP00000381007:T1340I;ENSP00000228327:T1340I	ENSP00000228327:T1340I	T	+	2	0	NAV3	77040120	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.784000	0.68990	2.814000	0.96858	0.655000	0.94253	ACA		0.517	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		13	165	0	0	0	1	0	13	165					T	78515989	C	T	78515989	3	4	66	1	0	0	0	0	1	0	0	0	10185	478	17	2	4081	2	NAV3	12	78515989	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08	6127772	78515989	55335906	12	1232											
SDK2	54549	broad.mit.edu	37	17	71375612	71375612	+	Silent	SNP	C	C	T	rs144878236	byFrequency	TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr17:71375612C>T	ENST00000392650.3	-	35	4839	c.4839G>A	c.(4837-4839)ccG>ccA	p.P1613P	SDK2_ENST00000388726.3_Silent_p.P1594P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1613	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGACCTCCTGCGGGGGGCTGG	0.657													C|||	7	0.00139776	0.0038	0.0014	5008	,	,		15210	0.001		0	False		,,,				2504	0					uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4837-4839)ccG>ccA		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.		C		52,4354	51.6+/-87.1	0,52,2151	39	38	38		4839	-9.2	0.1	17	dbSNP_134	38	0,8598		0,0,4299	no	coding-synonymous	SDK2	NM_001144952.1		0,52,6450	TT,TC,CC		0.0,1.1802,0.3999		1613/2173	71375612	52,12952	2203	4299	6502	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71375612C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4839G>A	17.37:g.71375612C>T			Somatic				SDK2_uc002jjt.4_Silent_p.P753P|SDK2_uc010dfn.2_Silent_p.P1292P	p.P1613P	NM_001144952	NP_001138424	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			34	4839	-			1613			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.4839G>A	CCDS45769.1																																																																																				0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		17	28	0	0	0	1	0	17	28					T	71375612	C	T	71375612	2	4	66	1	0	0	0	0	0	0	0	1	13969	755	27	1		1	SDK2	17	71375612	Silent	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		71375612	9819598	13	1233											
KANK2	25959	broad.mit.edu	37	19	11287390	11287390	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:11287390C>T	ENST00000586659.1	-	7	1938	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	KANK2_ENST00000589359.1_Missense_Mutation_p.A550T|KANK2_ENST00000589894.1_Missense_Mutation_p.A542T|KANK2_ENST00000432929.2_Missense_Mutation_p.A550T|KANK2_ENST00000355150.5_Missense_Mutation_p.A542T			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	542					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGCTTCGGCCACACTCGGA	0.622																																						uc002mqm.3																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1648-1650)Gcc>Acc		Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.							99	92	94					19																	11287390		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11287390C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	29300	protein-coding gene	gene with protein product		614610	"matrix-remodelling associated 3", "ankyrin repeat domain 25"	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1624G>A	19.37:g.11287390C>T	ENSP00000465650:p.Ala542Thr		Somatic				KANK2_uc021upe.1_Missense_Mutation_p.A542T|KANK2_uc002mqo.4_Missense_Mutation_p.A542T|KANK2_uc002mqp.1_Missense_Mutation_p.A351T	p.A550T	NM_015493	NP_056308	WXS	Illumina GAIIx	Phase_I	Q63ZY3	KANK2_HUMAN			4	1727	-			542					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.1648G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635260	0.47049	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39056	1.1;1.13	5.29	0.431	0.16523	.	0.455939	0.21234	N	0.077937	T	0.31263	0.0791	L	0.59436	1.845	0.09310	N	1	B;B	0.22683	0.041;0.073	B;B	0.24394	0.037;0.053	T	0.14531	-1.0469	10	0.18276	T	0.48	-11.2264	5.4094	0.16341	0.1256:0.4462:0.3477:0.0806	.	542;550	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	T	550;542	ENSP00000395650:A550T;ENSP00000347276:A542T	ENSP00000347276:A542T	A	-	1	0	KANK2	11148390	0.001000	0.12720	0.011000	0.14972	0.237000	0.25408	0.022000	0.13511	0.687000	0.31509	0.462000	0.41574	GCC		0.622	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		27	112	0	0	0	1	0	27	112					T	11287390	C	T	11287390	3	4	66	1	0	0	0	0	1	0	0	0	7977	739	26	2	959	2	KANK2	19	11287390	Missense_Mutation	SNP	C	TCGA-DJ-A13W-01A-11D-A10S-08		11287390	47841593	14	1234											
JUNB	3726	broad.mit.edu	37	19	12903374	12903374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chr19:12903374delG	ENST00000302754.4	+	1	1065	c.789delG	c.(787-789)atgfs	p.M263fs		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	263					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CCATCAACATGGAAGACCAAG	0.706																																						uc002mvc.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(787-789)atgfs		Homo sapiens jun B proto-oncogene (JUNB), mRNA.							8	9	9					19																	12903374		2128	4213	6341	SO:0001589	frameshift_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903374delG	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.789delG	19.37:g.12903374delG	ENSP00000303315:p.Met263fs		Somatic					p.M263fs	NM_002229	NP_002220	WXS	Illumina GAIIx	Phase_I	P17275	JUNB_HUMAN			0	1065	+			263					Q96GH3	Frame_Shift_Del	DEL	ENST00000302754.4	37	c.789delG	CCDS12280.1																																																																																				0.706	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		2	4						2	4	---	---	---	---	-	12903374	G	-	12903374	7	5	66	1	0	1	0	1	0	0	0	0	7970	1348	47	0	791	0	JUNB	19	12903374	Frame_Shift_Del	DEL	G	TCGA-DJ-A13W-01A-11D-A10S-08	1615984	12903374	46225609	15	1235											
OCRL	4952	broad.mit.edu	37	X	128709875	128709875	+	Splice_Site	SNP	T	T	A			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709875T>A	ENST00000371113.4	+	17	1880	c.1715T>A	c.(1714-1716)tTt>tAt	p.F572Y	OCRL_ENST00000357121.5_Splice_Site_p.F572Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	572	ASH.				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)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATTCCCCAGTTTGTGTTTGAA	0.393																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.e17-1		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							103	102	102					X																	128709875		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709875T>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1714-1T>A	X.37:g.128709875T>A			Somatic				OCRL_uc004eur.3_Splice_Site_p.F572_splice	p.F572_splice	NM_000276	NP_000267	WXS	Illumina GAIIx	Phase_I	Q01968	OCRL_HUMAN			17	1879	+			572					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.1714_splice	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554801	0.86231	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94613	-3.47;-3.47	5.69	5.69	0.88448	.	0.144593	0.64402	D	0.000004	D	0.96962	0.9008	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.926	D	0.97431	1.0015	10	0.72032	D	0.01	.	14.0213	0.64558	0.0:0.0:0.0:1.0	.	572;572	Q01968-2;Q01968	.;OCRL_HUMAN	Y	572	ENSP00000360154:F572Y;ENSP00000349635:F572Y	ENSP00000349635:F572Y	F	+	2	0	OCRL	128537556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.662000	0.83803	1.909000	0.55274	0.486000	0.48141	TTT		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation	81	111	0	0	0	1	0	81	111					A	128709875	T	A	128709875	5	1	66	1	0	0	0	0	0	0	1	0	10823	1855	64	5	1781	5	OCRL	23	128709875	Splice_Site	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08		128709875	26560685	16	1236			1	6		2	2	21	T		1.0983e-05
OCRL	4952	broad.mit.edu	37	X	128709895	128709895	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13W-01A-11D-A10S-08	TCGA-DJ-A13W-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c18a8b7-bad1-4aa4-a6df-472f89d9761c	af0cf9aa-5510-4af9-9bb4-a7e25e446245	g.chrX:128709895T>C	ENST00000371113.4	+	17	1900	c.1735T>C	c.(1735-1737)Ttt>Ctt	p.F579L	OCRL_ENST00000357121.5_Missense_Mutation_p.F579L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	579	ASH.				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)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAATGTGAAGTTTCGGCAACT	0.408																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1735-1737)Ttt>Ctt		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							116	113	114					X																	128709895		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709895T>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1735T>C	X.37:g.128709895T>C	ENSP00000360154:p.Phe579Leu		Somatic				OCRL_uc004eur.3_Missense_Mutation_p.F579L	p.F579L	NM_000276	NP_000267	WXS	Illumina GAIIx	Phase_I	Q01968	OCRL_HUMAN			16	1900	+			579					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1735T>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.993817	0.93167	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95069	-3.6;-3.6	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.944	D	0.97606	1.0126	10	0.87932	D	0	.	14.0213	0.64558	0.0:0.0:0.0:1.0	.	579;579	Q01968-2;Q01968	.;OCRL_HUMAN	L	579	ENSP00000360154:F579L;ENSP00000349635:F579L	ENSP00000349635:F579L	F	+	1	0	OCRL	128537576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	1.909000	0.55274	0.486000	0.48141	TTT		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		85	129	0	0	0	1	0	85	129					C	128709895	T	C	128709895	3	2	66	1	0	0	0	0	1	0	0	0	10823	1725	60	3	1801	3	OCRL	23	128709895	Missense_Mutation	SNP	T	TCGA-DJ-A13W-01A-11D-A10S-08	20	128709895	26560665	17	1237			1	6		2	2	21	T		1.0983e-05
BRDT	676	broad.mit.edu	37	1	92430277	92430277	+	Missense_Mutation	SNP	G	G	C	rs200845876		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:92430277G>C	ENST00000362005.3	+	4	704	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	BRDT_ENST00000402388.1_Missense_Mutation_p.E96Q|BRDT_ENST00000370389.2_Missense_Mutation_p.E23Q|BRDT_ENST00000399546.2_Missense_Mutation_p.E96Q|BRDT_ENST00000394530.3_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	96	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAATGTATAGAAGACTTCAA	0.289																																						uc010osz.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(286-288)Gaa>Caa		Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 4, mRNA.							36	38	38					1																	92430277		2190	4276	6466	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430277G>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.286G>C	1.37:g.92430277G>C	ENSP00000354568:p.Glu96Gln		Somatic				BRDT_uc001dol.4_Missense_Mutation_p.E96Q|BRDT_uc001dok.4_Missense_Mutation_p.E96Q|BRDT_uc009wdf.3_Missense_Mutation_p.E23Q|BRDT_uc010otb.2_Intron|BRDT_uc010ota.2_Intron|BRDT_uc001dom.4_Missense_Mutation_p.E96Q	p.E96Q	NM_001242806	NP_001229735	WXS	Illumina GAIIx	Phase_I	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	2	635	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	96			Bromo 1.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.286G>C	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	6.291	0.421849	0.11928	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;3.14;1.47;1.47;1.47	5.43	4.52	0.55395	Bromodomain (6);Bromodomain, conserved site (1);	0.335067	0.28809	N	0.014067	T	0.05135	0.0137	N	0.04162	-0.26	0.80722	D	1	B;P	0.44044	0.051;0.825	B;B	0.43536	0.025;0.423	T	0.10683	-1.0619	10	0.02654	T	1	-11.5966	9.6595	0.39947	0.0754:0.1408:0.7838:0.0	.	96;96	B7Z890;Q58F21	.;BRDT_HUMAN	Q	96;23;96;96;96;96;96;96;96;96;96;23;96	ENSP00000354568:E96Q;ENSP00000359416:E23Q;ENSP00000387822:E96Q;ENSP00000396351:E96Q;ENSP00000416714:E96Q;ENSP00000400002:E96Q;ENSP00000410587:E96Q;ENSP00000404969:E96Q;ENSP00000414349:E96Q;ENSP00000447394:E96Q;ENSP00000446599:E23Q;ENSP00000384051:E96Q	ENSP00000354568:E96Q	E	+	1	0	BRDT	92202865	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.191000	0.50981	1.316000	0.45131	0.650000	0.86243	GAA		0.289	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		4	77	0	0	0	1	0	4	77					C	92430277	G	C	92430277	3	2	67	1	0	0	0	0	1	0	0	0	1508	943	33	4	292	4	BRDT	1	92430277	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		92430277	156820344	1	1238											
FNDC7	163479	broad.mit.edu	37	1	109268557	109268557	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:109268557T>G	ENST00000370017.3	+	6	1319	c.1042T>G	c.(1042-1044)Ttt>Gtt	p.F348V	FNDC7_ENST00000271311.2_Missense_Mutation_p.F349V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	348	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTCACTTATTTTATTAGTGT	0.398																																						uc001dvx.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1042-1044)Ttt>Gtt		Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.							171	165	167					1																	109268557		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109268557T>G		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1042T>G	1.37:g.109268557T>G	ENSP00000359034:p.Phe348Val		Somatic				FNDC7_uc010ova.2_Missense_Mutation_p.F115V	p.F348V	NM_001144937	NP_001138409	WXS	Illumina GAIIx	Phase_I	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	5	1042	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	349			Fibronectin type-III 4.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1042T>G	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.19|19.19	3.779563|3.779563	0.70107|0.70107	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000445274|ENST00000370017;ENST00000271311	.|T;T	.|0.22743	.|1.94;1.94	6.05|6.05	6.05|6.05	0.98169|0.98169	.|Fibronectin, type III (3);	0.151005|0.151005	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.21347|0.21347	0.0514|0.0514	L|L	0.51422|0.51422	1.61|1.61	0.48632|0.48632	D|D	0.999686|0.999686	.|P;D	.|0.57899	.|0.656;0.981	.|B;P	.|0.53313	.|0.358;0.723	T|T	0.01127|0.01127	-1.1443|-1.1443	6|10	.|0.26408	.|T	.|0.33	-21.9382|-21.9382	16.6|16.6	0.84812|0.84812	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|349;348	.|Q5VTL7;E9PAZ5	.|FNDC7_HUMAN;.	C|V	123|348;349	.|ENSP00000359034:F348V;ENSP00000271311:F349V	.|ENSP00000271311:F349V	F|F	+|+	2|1	0|0	FNDC7|FNDC7	109070080|109070080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	3.422000|3.422000	0.52749|0.52749	2.323000|2.323000	0.78572|0.78572	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.398	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		9	198	0	0	0	1	0	9	198					G	109268557	T	G	109268557	3	3	67	1	0	0	0	0	1	0	0	0	5973	1841	64	5	1064	5	FNDC7	1	109268557	Missense_Mutation	SNP	T	TCGA-DJ-A13X-01A-11D-A10S-08	16838280	109268557	139982064	2	1239											
FAM110C	642273	broad.mit.edu	37	2	45588	45589	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr2:45588_45589GC>CA	ENST00000327669.4	-	1	796_797	c.797_798GC>TG	c.(796-798)gGC>gTG	p.G266V	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	266					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CCTCGTCGTCGCCGCCGCTGTG	0.663																																						uc010yim.2																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(796-798)ggc>gTG		Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.																																				SO:0001583	missense	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45588_45589GC>CA	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.797_798delinsCA	2.37:g.45588_45589delinsCA	ENSP00000328347:p.Gly266Val		Somatic					p.G266V	NM_001077710	NP_001071178	WXS	Illumina GAIIx	Phase_I	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	0	1000_1001	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	266						Missense_Mutation	DNP	ENST00000327669.4	37	c.797_798GC>TG	CCDS42645.1																																																																																				0.663	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		3	7	0	0	0	1	0	3	7					CA	45589	GC	CA	45588	3	2	67	1	0	0	0	0	1	0	0	0	5398	1074	38	4	175	4	FAM110C	2	45588	Missense_Mutation	DNP	GC	TCGA-DJ-A13X-01A-11D-A10S-08		45588	243153785	3	1240											
AMZ1	155185	broad.mit.edu	37	7	2740235	2740235	+	Silent	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:2740235G>A	ENST00000312371.4	+	2	518	c.150G>A	c.(148-150)ccG>ccA	p.P50P	AMZ1_ENST00000407112.1_Silent_p.P50P	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	50							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)		CCTACAACCCGCAGAGGACGC	0.662																																						uc003smr.1																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(148-150)ccG>ccA		Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.							111	119	116					7																	2740235		2203	4300	6503	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740235G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"archaemetzincin-1"	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.150G>A	7.37:g.2740235G>A			Somatic				AMZ1_uc003sms.1_Silent_p.P50P|AMZ1_uc011jwa.1_5'Flank	p.P50P	NM_133463	NP_597720	WXS	Illumina GAIIx	Phase_I	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	1	511	+		Ovarian(82;0.0779)	50					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.150G>A	CCDS34589.1																																																																																				0.662	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		7	253	0	0	0	1	0	7	253					A	2740235	G	A	2740235	2	1	67	1	0	0	0	0	0	0	0	1	596	1074	38	1		1	AMZ1	7	2740235	Silent	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		2740235	156398428	4	1241											
CCM2	83605	broad.mit.edu	37	7	45067320	45067320	+	Intron	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:45067320G>A	ENST00000258781.6	+	2	179				CCM2_ENST00000475551.1_5'UTR|CCM2_ENST00000461377.1_Intron|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.R6Q|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000474617.1_5'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGCTGTCGGCAGAGGAGG	0.433																																						uc003tms.3																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(16-18)cGg>cAg		Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.							83	88	86					7																	45067320		2203	4300	6503	SO:0001627	intron_variant	83605				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45067320G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.31-10532G>A	7.37:g.45067320G>A			Somatic				CCM2_uc003tmn.3_Intron|CCM2_uc003tmo.3_Intron|CCM2_uc003tmp.3_Intron|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Missense_Mutation_p.R6Q|CCM2_uc011kcc.2_Missense_Mutation_p.R6Q	p.R6Q	NM_001029835	NP_001025006	WXS	Illumina GAIIx	Phase_I	Q9BSQ5	CCM2_HUMAN			0	88	+			0					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.17G>A	CCDS5500.1	.	.	.	.	.	.	.	.	.	.	G	6.664	0.490964	0.12702	.	.	ENSG00000136280	ENST00000381112	T	0.47869	0.83	3.87	-4.0	0.04057	.	.	.	.	.	T	0.26738	0.0654	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.20140	-1.0284	9	0.87932	D	0	0.0651	2.9908	0.05982	0.5413:0.1277:0.2015:0.1295	.	6;6;6	B7Z5A6;B7Z8D5;E9PDJ3	.;.;.	Q	6	ENSP00000370503:R6Q	ENSP00000370503:R6Q	R	+	2	0	CCM2	45033845	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.916000	0.04029	-1.015000	0.03375	-0.808000	0.03180	CGG		0.433	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		16	67	0	0	0	1	0	16	67					A	45067320	G	A	45067320	1	1	67	0	1	0	0	0	0	0	0	0	2908	1116	39	1		1	CCM2	7	45067320	Intron	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	42327085	45067320	114071343	5	1242											
SRRT	51593	broad.mit.edu	37	7	100482086	100482086	+	Missense_Mutation	SNP	G	G	C	rs376597506		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:100482086G>C	ENST00000347433.4	+	7	1013	c.855G>C	c.(853-855)aaG>aaC	p.K285N	SRRT_ENST00000388793.4_Missense_Mutation_p.K285N|SRRT_ENST00000432932.1_Missense_Mutation_p.K285N|SRRT_ENST00000457580.2_Missense_Mutation_p.K285N			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	285	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAGCAAGAAAGAAGAAG	0.592																																						uc003uwy.2																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(853-855)aaG>aaC		Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.							43	44	44					7																	100482086		2202	4299	6501	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482086G>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.855G>C	7.37:g.100482086G>C	ENSP00000314491:p.Lys285Asn		Somatic				SRRT_uc010lhl.1_Missense_Mutation_p.K285N|SRRT_uc003uxa.2_Missense_Mutation_p.K285N|SRRT_uc003uwz.2_Missense_Mutation_p.K285N	p.K285N	NM_015908	NP_056992	WXS	Illumina GAIIx	Phase_I	Q9BXP5	SRRT_HUMAN			6	1122	+			285			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.855G>C	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270016	0.23221	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T	0.17213	2.29;2.29	4.06	3.17	0.36434	.	0.062949	0.64402	D	0.000012	T	0.08088	0.0202	N	0.17082	0.46	0.53688	D	0.999972	P;P;P;B	0.36535	0.557;0.557;0.557;0.421	B;B;B;B	0.32864	0.154;0.154;0.154;0.074	T	0.21930	-1.0231	10	0.25751	T	0.34	.	7.0025	0.24817	0.1227:0.0:0.8773:0.0	.	285;285;285;285	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	N	285	ENSP00000416553:K285N;ENSP00000314491:K285N	ENSP00000314491:K285N	K	+	3	2	SRRT	100320022	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	1.936000	0.40183	2.281000	0.76405	0.491000	0.48974	AAG		0.592	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		3	32	0	0	0	1	0	3	32					C	100482086	G	C	100482086	3	2	67	1	0	0	0	0	1	0	0	0	15171	933	33	4	877	4	SRRT	7	100482086	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	55414766	100482086	58656577	6	1243											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	54	0	0	0	1	0	34	54					T	140453136	A	T	140453136	3	4	67	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A13X-01A-11D-A10S-08	39971050	140453136	18685527	7	1244											
C9orf7	11094	broad.mit.edu	37	9	136333684	136333684	+	Splice_Site	DEL	G	G	-			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr9:136333684delG	ENST00000316948.4	+	5	508		c.e5-1		CACFD1_ENST00000291722.7_Splice_Site|CACFD1_ENST00000540581.1_Splice_Site|SLC2A6_ENST00000485978.1_5'Flank|CACFD1_ENST00000542192.1_Splice_Site	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1						synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										TCTCTCCCCAGGGGCGATGCG	0.667																																						uc011mdh.1																			0											c.e6-1		Homo sapiens chromosome 9 open reading frame 7 (C9orf7), transcript variant 3, mRNA.							30	32	31					9																	136333684		2198	4287	6485	SO:0001630	splice_region_variant	11094					integral to membrane		g.chr9:136333684delG		CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"chromosome 9 open reading frame 7"	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.429-1G>-	9.37:g.136333684delG			Somatic				CACFD1_uc011mdg.1_Splice_Site_p.K143_splice|CACFD1_uc011mdi.1_Splice_Site_p.G143_splice|CACFD1_uc004cec.2_Splice_Site_p.K101_splice|CACFD1_uc010nan.2_Splice_Site	p.G185_splice	NM_001242369	NP_001229298	WXS	Illumina GAIIx	Phase_I	Q9UGQ2	FLOWR_HUMAN			6	656	+			0					B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Splice_Site	DEL	ENST00000316948.4	37	c.554_splice	CCDS6974.1																																																																																				0.667	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1	NM_017586	Intron	2	4						2	4	---	---	---	---	-	136333684	G	-	136333684	8	5	67	1	0	1	0	1	0	0	1	0	2493	1014	35	0	446	0	C9orf7	9	136333684	Splice_Site	DEL	G	TCGA-DJ-A13X-01A-11D-A10S-08		136333684	4879747	8	1245											
HKDC1	80201	broad.mit.edu	37	10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	rs148336562	byFrequency	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:71010063G>A	ENST00000354624.5	+	11	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	530	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													G|||	2	0.000399361	0.0015	0	5008	,	,		20001	0		0	False		,,,				2504	0					uc001jpf.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1588-1590)Gcc>Acc		Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.							143	152	149					10																	71010063		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71010063G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1588G>A	10.37:g.71010063G>A	ENSP00000346643:p.Ala530Thr		Somatic				HKDC1_uc010qje.2_Missense_Mutation_p.A393T	p.A530T	NM_025130	NP_079406	WXS	Illumina GAIIx	Phase_I	Q2TB90	HKDC1_HUMAN			10	1721	+			530					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1588G>A	CCDS7288.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	25.7	4.660770	0.88154	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99527	-6.09;-6.09	5.2	5.2	0.72013	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	M	0.90922	3.16	0.58432	D	0.999993	D	0.76494	0.999	D	0.85130	0.997	D	0.97962	1.0338	10	0.87932	D	0	-24.7869	18.9131	0.92493	0.0:0.0:1.0:0.0	.	530	Q2TB90	HKDC1_HUMAN	T	530	ENSP00000346643:A530T;ENSP00000378521:A530T	ENSP00000346643:A530T	A	+	1	0	HKDC1	70680069	1.000000	0.71417	0.965000	0.40720	0.855000	0.48748	5.575000	0.67430	2.704000	0.92352	0.561000	0.74099	GCC		0.547	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		10	277	0	0	0	1	0	10	277					A	71010063	G	A	71010063	3	1	67	1	0	0	0	0	1	0	0	0	7193	1087	38	1	1630	1	HKDC1	10	71010063	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		71010063	64524684	9	1246											
GRID1	2894	broad.mit.edu	37	10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	rs377669879		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RP11-93H12.4_ENST00000474115.2_RNA|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					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						CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0	0	5008	,	,		20898	0		0	False		,,,				2504	0.001					uc001kdl.1																			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.(2128-2130)Cgg>Tgg		Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	257	236	243		2128	-5.4	0.9	10		243	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRID1	NM_017551.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	710/1010	87407024	2,13004	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.chr10:87407024G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2128C>T	10.37:g.87407024G>A	ENSP00000330148:p.Arg710Trp	Multiple Myeloma(13;0.14)	Somatic				GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R281W|AX746544_uc001kdm.1_Non-coding_Transcript	p.R710W	NM_017551	NP_060021	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			12	2229	-			710					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2128C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182564	0.78677	0.0	2.33E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26957	1.7;1.7	5.7	-5.39	0.02664	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.40196	0.1107	M	0.85777	2.775	0.80722	D	1	D	0.57899	0.981	P	0.49887	0.625	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.1965	0.93691	0.0:0.0:0.6216:0.3784	.	710	Q9ULK0	GRID1_HUMAN	W	710;281	ENSP00000330148:R710W;ENSP00000444455:R281W	ENSP00000330148:R710W	R	-	1	2	GRID1	87397004	1.000000	0.71417	0.902000	0.35471	0.939000	0.58152	1.430000	0.34914	-1.166000	0.02783	-0.271000	0.10264	CGG		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		6	434	0	0	0	1	0	6	434					A	87407024	G	A	87407024	3	1	67	1	0	0	0	0	1	0	0	0	6771	1086	38	1	917	1	GRID1	10	87407024	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	16396961	87407024	48127723	10	1247											
GANAB	23193	broad.mit.edu	37	11	62396401	62396401	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr11:62396401G>A	ENST00000356638.3	-	17	2036	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	GANAB_ENST00000534779.1_Missense_Mutation_p.R582W|GANAB_ENST00000346178.4_Missense_Mutation_p.R696W|GANAB_ENST00000540933.1_Missense_Mutation_p.R577W	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	674					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCATGTGCCCGGAAGAATGGC	0.542																																					Melanoma(23;1005 1074 15747 18937)	uc001nua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(2086-2088)Cgg>Tgg		Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.							132	128	129					11																	62396401		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396401G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2020C>T	11.37:g.62396401G>A	ENSP00000349053:p.Arg674Trp		Somatic				GANAB_uc001nub.3_Missense_Mutation_p.R674W|GANAB_uc001nuc.3_Missense_Mutation_p.R577W|GANAB_uc010rma.2_Missense_Mutation_p.R582W|GANAB_uc010rmb.2_Missense_Mutation_p.R560W	p.R696W	NM_198335	NP_938149	WXS	Illumina GAIIx	Phase_I	Q14697	GANAB_HUMAN			17	2119	-			674					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2086C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304526	0.60305	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.19	3.02	0.34903	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.99117	4.435	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.998	D;D;D;D	0.72625	0.978;0.967;0.978;0.962	D	0.98391	1.0563	10	0.87932	D	0	-16.0623	11.782	0.52020	0.0:0.0:0.6153:0.3847	.	560;582;674;696	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	W	696;674;582;577	ENSP00000340466:R696W;ENSP00000349053:R674W;ENSP00000435306:R582W;ENSP00000442962:R577W	ENSP00000340466:R696W	R	-	1	2	GANAB	62152977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.232000	0.43018	1.252000	0.44001	0.655000	0.94253	CGG		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		4	225	0	0	0	1	0	4	225					A	62396401	G	A	62396401	3	1	67	1	0	0	0	0	1	0	0	0	6233	1115	39	1	846	1	GANAB	11	62396401	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		62396401	72610115	11	1248											
TRPC4	7223	broad.mit.edu	37	13	38357319	38357319	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr13:38357319G>T	ENST00000379705.3	-	2	1009	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	TRPC4_ENST00000426868.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000379679.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000358477.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000355779.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000447043.1_Missense_Mutation_p.S51Y|TRPC4_ENST00000338947.5_Missense_Mutation_p.S51Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S51Y|TRPC4_ENST00000379681.3_Missense_Mutation_p.S51Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	51					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCTCTAGGGATTTCTTGAC	0.388																																						uc010abx.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(151-153)tCc>tAc		Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.							150	153	152					13																	38357319		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357319G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.152C>A	13.37:g.38357319G>T	ENSP00000369027:p.Ser51Tyr		Somatic				TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.S51Y|TRPC4_uc001uws.3_Missense_Mutation_p.S51Y|TRPC4_uc010tey.2_Missense_Mutation_p.S51Y|TRPC4_uc010abw.3_Missense_Mutation_p.S51Y|TRPC4_uc010aby.3_Missense_Mutation_p.S51Y	p.S51Y	NM_003306	NP_003297	WXS	Illumina GAIIx	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	1	387	-			51					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.152C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019526	0.54576	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	6.01	6.01	0.97437	Ankyrin repeat-containing domain (3);	0.145327	0.64402	D	0.000010	T	0.54498	0.1862	N	0.11427	0.14	0.51233	D	0.99991	B;B;P;P;B;B	0.47191	0.27;0.288;0.891;0.891;0.27;0.316	B;B;P;P;B;B	0.48141	0.185;0.189;0.568;0.568;0.345;0.255	T	0.54410	-0.8298	10	0.32370	T	0.25	-14.1765	20.5211	0.99222	0.0:0.0:1.0:0.0	.	51;51;51;51;51;51	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Y	51	ENSP00000369027:S51Y;ENSP00000369003:S51Y;ENSP00000342580:S51Y;ENSP00000369001:S51Y;ENSP00000410133:S51Y;ENSP00000348025:S51Y;ENSP00000351264:S51Y;ENSP00000368995:S51Y;ENSP00000414316:S51Y	ENSP00000342580:S51Y	S	-	2	0	TRPC4	37255319	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCC		0.388	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		6	229	0	0	0	1	0	6	229					T	38357319	G	T	38357319	3	4	67	1	0	0	0	0	1	0	0	0	16577	1174	41	4	2836	4	TRPC4	13	38357319	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		38357319	76812559	12	1249											
JUB	84962	broad.mit.edu	37	14	23445885	23445885	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:23445885T>C	ENST00000262713.2	-	3	1520	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	AJUBA_ENST00000361265.4_Missense_Mutation_p.N382S|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	382	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CACAGAGCCATTGACACTGTA	0.512																																						uc001whz.3																			0											c.(1144-1146)aAt>aGt		Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.							153	139	144					14																	23445885		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445885T>C	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1145A>G	14.37:g.23445885T>C	ENSP00000262713:p.Asn382Ser		Somatic				AJUBA_uc001why.3_5'UTR	p.N382S	NM_032876	NP_116265	WXS	Illumina GAIIx	Phase_I	Q96IF1	JUB_HUMAN			2	1518	-			382			LIM zinc-binding 1.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1145A>G	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682069	0.68042	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.87966	-2.32;-2.32	5.74	5.74	0.90152	Zinc finger, LIM-type (4);	0.060878	0.64402	D	0.000008	D	0.86234	0.5884	L	0.42744	1.35	0.52501	D	0.99995	B	0.30021	0.265	B	0.40009	0.316	D	0.85399	0.1130	10	0.56958	D	0.05	.	13.9942	0.64386	0.0:0.0:0.0:1.0	.	382	Q96IF1	JUB_HUMAN	S	382	ENSP00000262713:N382S;ENSP00000354491:N382S	ENSP00000262713:N382S	N	-	2	0	JUB	22515725	1.000000	0.71417	0.953000	0.39169	0.901000	0.52897	5.556000	0.67307	2.192000	0.70111	0.533000	0.62120	AAT		0.512	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			3	139	0	0	0	1	0	3	139					C	23445885	T	C	23445885	3	2	67	1	0	0	0	0	1	0	0	0	7968	1493	52	3	495	3	JUB	14	23445885	Missense_Mutation	SNP	T	TCGA-DJ-A13X-01A-11D-A10S-08		23445885	83903655	13	1250											
ALKBH1	8846	broad.mit.edu	37	14	78142152	78142152	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:78142152A>G	ENST00000216489.3	-	5	602	c.587T>C	c.(586-588)cTg>cCg	p.L196P		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	196					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAGGAAACCCAGGTCAGAAGG	0.448																																						uc001xuc.1																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(586-588)cTg>cCg		Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.							92	93	93					14																	78142152		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78142152A>G	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.587T>C	14.37:g.78142152A>G	ENSP00000216489:p.Leu196Pro		Somatic					p.L196P	NM_006020	NP_006011	WXS	Illumina GAIIx	Phase_I	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	4	596	-			196					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.587T>C	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673531	0.88445	.	.	ENSG00000100601	ENST00000216489	T	0.19669	2.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64993	-0.6276	10	0.87932	D	0	-22.3694	16.8222	0.85835	1.0:0.0:0.0:0.0	.	196	Q13686	ALKB1_HUMAN	P	196	ENSP00000216489:L196P	ENSP00000216489:L196P	L	-	2	0	ALKBH1	77211905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.842000	0.92136	2.371000	0.80710	0.533000	0.62120	CTG		0.448	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		3	91	0	0	0	1	0	3	91					G	78142152	A	G	78142152	3	3	67	1	0	0	0	0	1	0	0	0	526	188	7	3	590	3	ALKBH1	14	78142152	Missense_Mutation	SNP	A	TCGA-DJ-A13X-01A-11D-A10S-08	54696267	78142152	29207388	14	1251											
MYO1E	4643	broad.mit.edu	37	15	59510196	59510196	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr15:59510196C>T	ENST00000288235.4	-	10	1400	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	334	Myosin motor.				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)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTCGGATTTGCCTCCCCACTT	0.527																																						uc002aga.3																			0		p.G333R(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1000-1002)gGc>gAc		Homo sapiens myosin IE (MYO1E), mRNA.							187	169	175					15																	59510196		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity	g.chr15:59510196C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"Myosins / Myosin superfamily : Class I"	7599	protein-coding gene	gene with protein product	"myosin-IC"	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1001G>A	15.37:g.59510196C>T	ENSP00000288235:p.Gly334Asp		Somatic					p.G334D	NM_004998	NP_004989	WXS	Illumina GAIIx	Phase_I	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	9	1373	-			334			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1001G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937233	0.73557	.	.	ENSG00000157483	ENST00000288235	D	0.87412	-2.25	4.69	4.69	0.59074	Myosin head, motor domain (2);	0.205050	0.52532	D	0.000065	D	0.94006	0.8080	M	0.91406	3.205	0.54753	D	0.999989	P	0.37158	0.585	P	0.52386	0.697	D	0.94914	0.8067	10	0.66056	D	0.02	.	17.8209	0.88650	0.0:1.0:0.0:0.0	.	334	Q12965	MYO1E_HUMAN	D	334	ENSP00000288235:G334D	ENSP00000288235:G334D	G	-	2	0	MYO1E	57297488	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	3.744000	0.55112	2.437000	0.82529	0.462000	0.41574	GGC		0.527	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		8	194	0	0	0	1	0	8	194					T	59510196	C	T	59510196	3	4	67	1	0	0	0	0	1	0	0	0	10072	739	26	2	2401	2	MYO1E	15	59510196	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		59510196	43021196	15	1252											
ACSM2A	123876	broad.mit.edu	37	16	20491997	20491997	+	Missense_Mutation	SNP	G	G	A	rs141811117	byFrequency	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:20491997G>A	ENST00000573854.1	+	11	1498	c.1384G>A	c.(1384-1386)Gca>Aca	p.A462T	ACSM2A_ENST00000219054.6_Missense_Mutation_p.A462T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A462T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A462T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A383T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A234T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	462					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TATGGGACGGGCAAATGATAT	0.498																																						uc010bwe.3																			0		p.R461R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1384-1386)Gca>Aca		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.							17	40	32					16																	20491997		2101	4117	6218	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491997G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1384G>A	16.37:g.20491997G>A	ENSP00000459451:p.Ala462Thr		Somatic				ACSM2A_uc010vax.1_Missense_Mutation_p.A383T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A462T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A462T|ACSM2A_uc010vay.2_Missense_Mutation_p.A383T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A92T	p.A462T	NM_001010845	NP_001010845	WXS	Illumina GAIIx	Phase_I	Q08AH3	ACS2A_HUMAN			11	1623	+			462					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1384G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	4.949	0.176243	0.09443	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.16	-4.79	0.03200	AMP-dependent synthetase/ligase (1);	1.872860	0.03641	N	0.239446	T	0.29288	0.0729	L	0.39633	1.23	0.20764	N	0.99986	B;B	0.19817	0.022;0.039	B;B	0.20577	0.03;0.02	T	0.09662	-1.0664	10	0.28530	T	0.3	1.768	3.5519	0.07850	0.3498:0.0:0.2574:0.3928	.	383;462	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	383;462;234;462	ENSP00000392169:A383T;ENSP00000219054:A462T;ENSP00000445082:A234T;ENSP00000379411:A462T	ENSP00000219054:A462T	A	+	1	0	ACSM2A	20399498	0.000000	0.05858	0.065000	0.19835	0.574000	0.36063	-0.978000	0.03778	-1.362000	0.02166	0.289000	0.19496	GCA		0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		4	160	0	0	0	1	0	4	160					A	20491997	G	A	20491997	3	1	67	1	0	0	0	0	1	0	0	0	183	1203	42	2	1422	2	ACSM2A	16	20491997	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08		20491997	69862756	16	1253											
SRCAP	10847	broad.mit.edu	37	16	30715587	30715587	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:30715587G>A	ENST00000262518.4	+	4	642	c.257G>A	c.(256-258)gGc>gAc	p.G86D	SRCAP_ENST00000395059.2_Missense_Mutation_p.G86D|SRCAP_ENST00000344771.4_Missense_Mutation_p.G86D|RNU6-1043P_ENST00000410355.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	86					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTAACAAGGGCCCGAAGTGG	0.537																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(256-258)gGc>gAc		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							102	102	102					16																	30715587		1904	4123	6027	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715587G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.257G>A	16.37:g.30715587G>A	ENSP00000262518:p.Gly86Asp		Somatic				SRCAP_uc021tgn.1_Missense_Mutation_p.G86D|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_5'Flank	p.G86D	NM_006662	NP_006653	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		3	642	+			86					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.257G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982400	0.34942	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.76316	-1.01;-1.01;-1.01	4.95	4.95	0.65309	.	0.000000	0.51477	D	0.000089	T	0.60753	0.2293	N	0.08118	0	0.40749	D	0.982902	P	0.37015	0.578	B	0.36186	0.219	T	0.64980	-0.6279	10	0.33940	T	0.23	-2.5736	15.7294	0.77790	0.0:0.0:1.0:0.0	.	86	Q6ZRS2	SRCAP_HUMAN	D	86	ENSP00000262518:G86D;ENSP00000378499:G86D;ENSP00000343042:G86D	ENSP00000262518:G86D	G	+	2	0	SRCAP	30623088	1.000000	0.71417	0.991000	0.47740	0.828000	0.46876	2.689000	0.46993	2.582000	0.87167	0.650000	0.86243	GGC		0.537	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	203	0	0	0	1	0	9	203					A	30715587	G	A	30715587	3	1	67	1	0	0	0	0	1	0	0	0	15134	1203	42	2	263	2	SRCAP	16	30715587	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	10223590	30715587	59639166	17	1254											
C16orf86	388284	broad.mit.edu	37	16	67701334	67701334	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:67701334C>G	ENST00000403458.4	+	2	393	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	ENKD1_ENST00000602409.1_5'Flank|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank|C16orf86_ENST00000602974.1_Intron	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	80										endometrium(2)|lung(4)	6		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)		GGAGGAGCGGCCCAAGCCGCA	0.667																																						uc002ety.3																			0				endometrium(2)|lung(4)	6						c.(238-240)Ccc>Gcc		Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.							11	15	14					16																	67701334		2152	4249	6401	SO:0001583	missense	388284							g.chr16:67701334C>G		CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.238C>G	16.37:g.67701334C>G	ENSP00000384117:p.Pro80Ala		Somatic				C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.3_Non-coding_Transcript	p.P80A	NM_001012984	NP_001013002	WXS	Illumina GAIIx	Phase_I	Q6ZW13	CP086_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	395	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	80					B5MCW6	Missense_Mutation	SNP	ENST00000403458.4	37	c.238C>G	CCDS32468.2	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841270	0.32513	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.15	0.741	0.18336	.	.	.	.	.	T	0.25005	0.0607	N	0.14661	0.345	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.19321	-1.0309	8	0.44086	T	0.13	-2.0092	9.5134	0.39091	0.148:0.4284:0.4236:0.0	.	80	Q6ZW13	CP086_HUMAN	A	80	.	ENSP00000384117:P80A	P	+	1	0	C16orf86	66258835	0.001000	0.12720	0.000000	0.03702	0.149000	0.21700	1.019000	0.30014	0.025000	0.15241	0.563000	0.77884	CCC		0.667	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318767.2	NM_001012984		3	19	0	0	0	1	0	3	19					G	67701334	C	G	67701334	3	3	67	1	0	0	0	0	1	0	0	0	1839	739	26	4	244	4	C16orf86	16	67701334	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08	36985747	67701334	22653419	18	1255											
NFIC	4782	broad.mit.edu	37	19	3452590	3452590	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:3452590C>T	ENST00000443272.2	+	8	1246	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	NFIC_ENST00000586919.1_Missense_Mutation_p.H366Y|NFIC_ENST00000589123.1_Missense_Mutation_p.H390Y|NFIC_ENST00000346156.5_Missense_Mutation_p.H366Y|NFIC_ENST00000395111.3_Missense_Mutation_p.H390Y|NFIC_ENST00000590282.1_Missense_Mutation_p.H399Y|NFIC_ENST00000341919.3_Missense_Mutation_p.H399Y	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	399					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)		CTACCCACCTCATCTCAACCC	0.657																																						uc010xhi.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1195-1197)Cat>Tat		Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.							169	146	154					19																	3452590		2203	4300	6503	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.chr19:3452590C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1195C>T	19.37:g.3452590C>T	ENSP00000396843:p.His399Tyr		Somatic				NFIC_uc002lxo.3_Missense_Mutation_p.H390Y|NFIC_uc010xhh.2_Missense_Mutation_p.H390Y|NFIC_uc010xhj.2_Missense_Mutation_p.H399Y|NFIC_uc002lxp.3_Missense_Mutation_p.H399Y	p.H399Y	NM_001245002	NP_001231931	WXS	Illumina GAIIx	Phase_I	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)	7	1265	+		Hepatocellular(1079;0.137)	399					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.1195C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393707	0.83011	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.52754	0.65;0.65;0.65	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.70595	2.14	0.49582	D	0.999808	D;D;D;D;D	0.69078	0.997;0.997;0.996;0.996;0.996	D;D;D;D;D	0.79108	0.992;0.992;0.986;0.986;0.986	T	0.70281	-0.4915	10	0.52906	T	0.07	.	15.0657	0.71992	0.0:1.0:0.0:0.0	.	399;399;390;399;390	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	Y	390;390;366;399;399;399	ENSP00000378543:H390Y;ENSP00000301935:H366Y;ENSP00000342194:H399Y	ENSP00000269778:H399Y	H	+	1	0	NFIC	3403590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.282000	0.78630	1.874000	0.54306	0.555000	0.69702	CAT		0.657	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		6	253	0	0	0	1	0	6	253					T	3452590	C	T	3452590	3	4	67	1	0	0	0	0	1	0	0	0	10372	826	29	2	1232	2	NFIC	19	3452590	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		3452590	55676393	19	1256											
ZNF83	55769	broad.mit.edu	37	19	53116715	53116715	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:53116715G>A	ENST00000597597.1	-	2	3356	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.A368V|ZNF83_ENST00000544146.1_Missense_Mutation_p.A368V|ZNF83_ENST00000391789.4_Missense_Mutation_p.A340V|ZNF83_ENST00000301096.3_Missense_Mutation_p.A368V|ZNF83_ENST00000541777.2_Missense_Mutation_p.A368V|ZNF83_ENST00000545872.1_Missense_Mutation_p.A368V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTCTCACCGGCATGAATTAT	0.403																																						uc002pzu.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1102-1104)gCc>gTc		Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.							118	116	117					19																	53116715		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116715G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1103C>T	19.37:g.53116715G>A	ENSP00000472619:p.Ala368Val		Somatic				ZNF83_uc002pzv.4_Missense_Mutation_p.A368V|ZNF83_uc010eps.3_Missense_Mutation_p.A340V|ZNF83_uc010ept.3_Missense_Mutation_p.A368V|ZNF83_uc010epu.3_Missense_Mutation_p.A368V|ZNF83_uc010epw.3_Missense_Mutation_p.A368V|ZNF83_uc010epv.3_Missense_Mutation_p.A368V|ZNF83_uc010epx.3_Missense_Mutation_p.A340V|ZNF83_uc010epy.3_Missense_Mutation_p.A368V|ZNF83_uc010epz.3_Missense_Mutation_p.A340V|ZNF83_uc010eqb.2_Missense_Mutation_p.A340V|ZNF83_uc021uyx.1_Missense_Mutation_p.A368V	p.A368V	NM_018300	NP_060770	WXS	Illumina GAIIx	Phase_I	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	1	2347	-			368					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.1103C>T	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	12.30	1.897477	0.33535	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	2.13	-0.5	0.12012	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	N	0.16567	0.415	0.20489	N	0.999896	B;B	0.21225	0.002;0.053	B;B	0.30716	0.003;0.119	T	0.38222	-0.9671	9	0.72032	D	0.01	.	5.3611	0.16087	0.1346:0.2072:0.6582:0.0	.	340;368	P51522-2;P51522	.;ZNF83_HUMAN	V	368;368;368;340;368;368;340	ENSP00000445993:A368V;ENSP00000301096:A368V;ENSP00000445470:A368V;ENSP00000440713:A368V;ENSP00000439681:A368V;ENSP00000375666:A340V	ENSP00000301096:A368V	A	-	2	0	ZNF83	57808527	0.979000	0.34478	0.002000	0.10522	0.003000	0.03518	2.061000	0.41403	-0.199000	0.10317	0.313000	0.20887	GCC		0.403	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		4	182	0	0	0	1	0	4	182					A	53116715	G	A	53116715	3	1	67	1	0	0	0	0	1	0	0	0	18180	1203	42	2	451	2	ZNF83	19	53116715	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	49664125	53116715	6012268	20	1257											
NLRP5	126206	broad.mit.edu	37	19	56561809	56561809	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:56561809G>A	ENST00000390649.3	+	12	2983	c.2983G>A	c.(2983-2985)Gct>Act	p.A995T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	995					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGACACGGCTGGCTGTGG	0.547																																						uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2983-2985)Gct>Act		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.							97	103	101					19																	56561809		2083	4219	6302	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56561809G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2983G>A	19.37:g.56561809G>A	ENSP00000375063:p.Ala995Thr		Somatic				NLRP5_uc002qmi.3_Missense_Mutation_p.A976T	p.A995T	NM_153447	NP_703148	WXS	Illumina GAIIx	Phase_I	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2983	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	995					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2983G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	2.685	-0.274448	0.05679	.	.	ENSG00000171487	ENST00000390649	T	0.54071	0.59	3.63	-1.61	0.08399	.	0.996923	0.08117	N	0.995308	T	0.44095	0.1277	L	0.56340	1.77	0.09310	N	1	B	0.27882	0.192	B	0.33690	0.168	T	0.39961	-0.9588	10	0.12766	T	0.61	.	6.8671	0.24100	0.5779:0.0:0.4221:0.0	.	995	P59047	NALP5_HUMAN	T	995	ENSP00000375063:A995T	ENSP00000375063:A995T	A	+	1	0	NLRP5	61253621	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.668000	0.25127	-0.213000	0.10094	-0.145000	0.13849	GCT		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		3	48	0	0	0	1	0	3	48					A	56561809	G	A	56561809	3	1	67	1	0	0	0	0	1	0	0	0	10480	1203	42	2	3029	2	NLRP5	19	56561809	Missense_Mutation	SNP	G	TCGA-DJ-A13X-01A-11D-A10S-08	3445094	56561809	2567174	21	1258											
BPIL1	80341	broad.mit.edu	37	20	31600702	31600702	+	Silent	SNP	C	C	T	rs540459199		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:31600702C>T	ENST00000170150.3	+	4	492	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	99						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.F99L(1)									ATTTTACTTTCAAGGTCTTTC	0.557																																						uc002wyj.3																			1	Substitution - Missense(1)	p.F99L(1)	ovary(1)								c.(295-297)ttC>ttT		Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.							118	114	115					20																	31600702		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31600702C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.297C>T	20.37:g.31600702C>T			Somatic					p.F99F	NM_025227	NP_079503	WXS	Illumina GAIIx	Phase_I	Q8N4F0	BPIL1_HUMAN			3	491	+			99					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.297C>T	CCDS13210.1																																																																																				0.557	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		6	178	0	0	0	1	0	6	178					T	31600702	C	T	31600702	2	4	67	1	0	0	0	0	0	0	0	1	1491	825	29	2		2	BPIL1	20	31600702	Silent	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08		31600702	31424818	22	1259											
FAM83D	81610	broad.mit.edu	37	20	37576551	37576551	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:37576551C>G	ENST00000217429.4	+	3	815	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	228					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CAGGAAATATCTACTATGCAA	0.428																																						uc002xjg.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(772-774)atC>atG		Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.							136	129	131					20																	37576551		1933	4136	6069	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576551C>G	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.774C>G	20.37:g.37576551C>G	ENSP00000217429:p.Ile258Met		Somatic					p.I258M	NM_030919	NP_112181	WXS	Illumina GAIIx	Phase_I	Q9H4H8	FA83D_HUMAN			2	815	+		Myeloproliferative disorder(115;0.00878)	228					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.774C>G	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489753	0.64074	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11385	2.78	6.16	0.143	0.14820	.	0.250072	0.43747	D	0.000523	T	0.11965	0.0291	L	0.40543	1.245	0.30569	N	0.763719	P	0.47545	0.897	P	0.51657	0.676	T	0.07673	-1.0760	10	0.48119	T	0.1	.	4.9509	0.14013	0.3933:0.3351:0.0:0.2716	.	228	Q9H4H8	FA83D_HUMAN	M	258;212	ENSP00000217429:I258M	ENSP00000217429:I258M	I	+	3	3	FAM83D	37009965	0.001000	0.12720	0.997000	0.53966	0.990000	0.78478	-0.785000	0.04628	0.141000	0.18875	0.650000	0.86243	ATC		0.428	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			5	161	0	0	0	1	0	5	161					G	37576551	C	G	37576551	3	3	67	1	0	0	0	0	1	0	0	0	5636	903	32	4	784	4	FAM83D	20	37576551	Missense_Mutation	SNP	C	TCGA-DJ-A13X-01A-11D-A10S-08	5975849	37576551	25448969	23	1260											
AMPD2	271	broad.mit.edu	37	1	110170763	110170763	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:110170763T>C	ENST00000256578.3	+	10	1661	c.1301T>C	c.(1300-1302)aTc>aCc	p.I434T	AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.I316T|AMPD2_ENST00000342115.4_Missense_Mutation_p.I353T|AMPD2_ENST00000358729.4_Missense_Mutation_p.I359T|AMPD2_ENST00000393688.3_Missense_Mutation_p.I315T|AMPD2_ENST00000528667.1_Missense_Mutation_p.I434T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	434					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCGCTTCATCAAGCGGGCA	0.597																																						uc009wfh.1																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1300-1302)aTc>aCc		Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.							72	70	70					1																	110170763		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170763T>C	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1301T>C	1.37:g.110170763T>C	ENSP00000256578:p.Ile434Thr		Somatic				AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.I353T|AMPD2_uc001dyc.1_Missense_Mutation_p.I434T|AMPD2_uc010ovr.1_Missense_Mutation_p.I359T|AMPD2_uc010ovs.1_Missense_Mutation_p.I316T|AMPD2_uc001dyd.1_Missense_Mutation_p.I315T|AMPD2_uc001dye.1_5'Flank	p.I434T	NM_004037	NP_004028	WXS	Illumina GAIIx	Phase_I	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1843	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	434					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1301T>C	CCDS805.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640635	0.87859	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.04	5.04	0.67666	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	H	0.95079	3.62	0.58432	D	0.999999	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	D	0.97355	0.9966	10	0.87932	D	0	-34.7336	13.8948	0.63764	0.0:0.0:0.0:1.0	.	359;315;434;353	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	T	353;434;434;359;316;315	ENSP00000345498:I353T;ENSP00000436541:I434T;ENSP00000256578:I434T;ENSP00000351573:I359T;ENSP00000437164:I316T;ENSP00000377292:I315T	ENSP00000256578:I434T	I	+	2	0	AMPD2	109972286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.128000	0.65567	0.459000	0.35465	ATC		0.597	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			4	20	0	0	0	1	0	4	20					C	110170763	T	C	110170763	3	2	68	1	0	0	0	0	1	0	0	0	586	1435	50	3	1380	3	AMPD2	1	110170763	Missense_Mutation	SNP	T	TCGA-DJ-A1QD-01A-11D-A14W-08		110170763	139079858	1	1261											
OBSCN	84033	broad.mit.edu	37	1	228437938	228437938	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr1:228437938G>A	ENST00000422127.1	+	14	4350	c.4306G>A	c.(4306-4308)Gca>Aca	p.A1436T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1528T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1436T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1436					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)				CCTGGACGTGGCAGGTCAGTG	0.632																																						uc009xez.1																			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.(4306-4308)Gca>Aca		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							60	72	68					1																	228437938		2063	4188	6251	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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228437938G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4306G>A	1.37:g.228437938G>A	ENSP00000409493:p.Ala1436Thr		Somatic				OBSCN_uc001hsn.3_Missense_Mutation_p.A1436T	p.A1436T	NM_001098623	NP_001092093	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			13	4350	+		Prostate(94;0.0405)	1436					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.4306G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	5.432	0.264838	0.10294	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04454	3.62;3.62	5.2	-7.89	0.01174	Immunoglobulin subtype (1);	1.008250	0.07968	N	0.983494	T	0.01940	0.0061	N	0.16903	0.455	0.22648	N	0.998891	B;B	0.26400	0.021;0.148	B;B	0.18263	0.007;0.021	T	0.45991	-0.9223	10	0.11485	T	0.65	.	3.6033	0.08032	0.348:0.1923:0.3658:0.0939	.	1436;1436	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1436	ENSP00000284548:A1436T;ENSP00000409493:A1436T	ENSP00000284548:A1436T	A	+	1	0	OBSCN	226504561	0.000000	0.05858	0.044000	0.18714	0.035000	0.12851	-0.964000	0.03833	-1.709000	0.01399	-0.768000	0.03414	GCA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	106	0	0	0	1	0	4	106					A	228437938	G	A	228437938	3	1	68	1	0	0	0	0	1	0	0	0	10812	1203	42	2	4356	2	OBSCN	1	228437938	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08	118267175	228437938	20812683	2	1262											
SPINK9	643394	broad.mit.edu	37	5	147716006	147716006	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr5:147716006C>T	ENST00000377906.1	+	2	132	c.77C>T	c.(76-78)aCg>aTg	p.T26M	SPINK9_ENST00000511717.2_Missense_Mutation_p.T47M|RP11-373N22.3_ENST00000501695.3_RNA	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	26	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAACAGACGAAACAGATG	0.303																																						uc003lpe.1																			0				ovary(1)|urinary_tract(1)	2						c.(76-78)aCg>aTg		Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA.							166	165	165					5																	147716006		2203	4300	6503	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147716006C>T	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"Serine peptidase inhibitors, Kazal type"	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.77C>T	5.37:g.147716006C>T	ENSP00000367139:p.Thr26Met		Somatic				AK054753_uc003lpb.1_Intron	p.T26M	NM_001040433	NP_001035523	WXS	Illumina GAIIx	Phase_I	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	132	+			26			Kazal-like.		B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.77C>T	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	C	5.494	0.276225	0.10403	.	.	ENSG00000204909	ENST00000511717;ENST00000377906	T;T	0.61040	0.14;0.34	2.87	-0.562	0.11781	.	10.985800	0.00166	N	0.000006	T	0.44726	0.1307	.	.	.	0.09310	N	1	D	0.62365	0.991	B	0.42625	0.393	T	0.35325	-0.9793	9	0.34782	T	0.22	0.0357	3.2232	0.06723	0.3243:0.2577:0.418:0.0	.	26	Q5DT21	ISK9_HUMAN	M	47;26	ENSP00000427240:T47M;ENSP00000367139:T26M	ENSP00000367139:T26M	T	+	2	0	SPINK9	147696199	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.142000	0.03203	-0.137000	0.11455	-1.058000	0.02302	ACG		0.303	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		24	88	0	0	0	1	0	24	88					T	147716006	C	T	147716006	3	4	68	1	0	0	0	0	1	0	0	0	15065	536	19	1	83	1	SPINK9	5	147716006	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		147716006	33199254	3	1263											
VNN2	8875	broad.mit.edu	37	6	133070907	133070907	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr6:133070907C>T	ENST00000326499.6	-	6	1422	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	VNN2_ENST00000525289.1_Missense_Mutation_p.G212D|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Missense_Mutation_p.G380D	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	433					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCCAAATGTGCCACTGAGGGA	0.393																																						uc003qdt.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1297-1299)gGc>gAc		Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.							101	89	93					6																	133070907		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133070907C>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1298G>A	6.37:g.133070907C>T	ENSP00000322276:p.Gly433Asp		Somatic				VNN2_uc003qds.3_Missense_Mutation_p.G142D|VNN2_uc010kgb.3_Missense_Mutation_p.G212D|VNN2_uc003qdv.3_Missense_Mutation_p.G380D	p.G433D	NM_004665	NP_004656	WXS	Illumina GAIIx	Phase_I	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	1309	-			433					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1298G>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115359	0.77323	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.93547	-3.24;-3.24;-3.24	5.29	4.41	0.53225	.	0.000000	0.64402	D	0.000006	D	0.95230	0.8453	M	0.80508	2.5	0.23542	N	0.997455	D;D	0.89917	1.0;1.0	D;D	0.87578	0.981;0.998	D	0.90895	0.4764	10	0.87932	D	0	-9.4162	13.2254	0.59912	0.0:0.9205:0.0:0.0795	.	212;433	O95498-2;O95498	.;VNN2_HUMAN	D	433;380;212	ENSP00000322276:G433D;ENSP00000436822:G380D;ENSP00000436935:G212D	ENSP00000322276:G433D	G	-	2	0	VNN2	133112600	0.998000	0.40836	0.993000	0.49108	0.972000	0.66771	3.400000	0.52594	1.205000	0.43262	0.655000	0.94253	GGC		0.393	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			3	40	0	0	0	1	0	3	40					T	133070907	C	T	133070907	3	4	68	1	0	0	0	0	1	0	0	0	17180	739	26	2	272	2	VNN2	6	133070907	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		133070907	38044160	4	1264											
CCDC132	55610	broad.mit.edu	37	7	92869233	92869233	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:92869233C>T	ENST00000305866.5	+	2	216	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CCDC132_ENST00000251739.5_Missense_Mutation_p.R30W|CCDC132_ENST00000535481.1_Missense_Mutation_p.R30W|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	30						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGAGTCTCCGGGTCCCTGG	0.393																																						uc003umo.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(88-90)Cgg>Tgg		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							97	103	101					7																	92869233		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92869233C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.88C>T	7.37:g.92869233C>T	ENSP00000307666:p.Arg30Trp		Somatic				CCDC132_uc003ump.3_5'UTR|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.R30W|CCDC132_uc003umn.3_Missense_Mutation_p.R30W	p.R30W	NM_017667	NP_060137	WXS	Illumina GAIIx	Phase_I	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		1	216	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		30					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.88C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086561	0.76642	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000458530;ENST00000535481	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	D;P;P	0.63877	0.919;0.853;0.666	T	0.63629	-0.6594	9	0.72032	D	0.01	-11.33	12.7985	0.57571	0.0:1.0:0.0:0.0	.	30;30;30	B4DS55;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	W	30	.	ENSP00000251739:R30W	R	+	1	2	CCDC132	92707169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.336000	0.52113	2.741000	0.93983	0.485000	0.47835	CGG		0.393	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		3	79	0	0	0	1	0	3	79					T	92869233	C	T	92869233	3	4	68	1	0	0	0	0	1	0	0	0	2767	643	23	1	94	1	CCDC132	7	92869233	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		92869233	66269430	5	1265											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	41	0	0	0	1	0	18	41					T	140453136	A	T	140453136	3	4	68	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QD-01A-11D-A14W-08	47583903	140453136	18685527	6	1266											
TMEM176B	28959	broad.mit.edu	37	7	150493471	150493471	+	Missense_Mutation	SNP	C	C	T	rs141592438		TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr7:150493471C>T	ENST00000447204.2	-	2	559	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	63					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E63Q(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGCTGCTCATAACCAATC	0.498																																						uc022apx.1																			1	Substitution - Missense(1)	p.E63Q(2)	cervix(1)	cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(187-189)Gag>Aag		Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.							57	57	57					7																	150493471		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150493471C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.187G>A	7.37:g.150493471C>T	ENSP00000410269:p.Glu63Lys		Somatic				TMEM176B_uc003whu.4_Missense_Mutation_p.E63K|TMEM176B_uc003whv.4_Missense_Mutation_p.E63K|TMEM176B_uc003whw.4_Missense_Mutation_p.E63K	p.E63K	NM_014020	NP_054739	WXS	Illumina GAIIx	Phase_I	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	0	313	-			63					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.187G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	1.993	-0.431417	0.04669	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.08008	3.29;3.29;3.29;3.29;3.29;3.14	4.92	1.04	0.20106	.	1.227770	0.06259	N	0.693596	T	0.03011	0.0089	N	0.02011	-0.69	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.14578	0.011;0.002	T	0.42327	-0.9458	10	0.07325	T	0.83	-1.6786	7.4458	0.27211	0.0:0.6258:0.0:0.3742	.	63;63	E9PAV4;Q3YBM2	.;T176B_HUMAN	K	63	ENSP00000419258:E63K;ENSP00000318409:E63K;ENSP00000410269:E63K;ENSP00000413531:E63K;ENSP00000397810:E63K;ENSP00000404831:E63K	ENSP00000318409:E63K	E	-	1	0	TMEM176B	150124404	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.021000	0.13489	0.142000	0.18901	-0.444000	0.05651	GAG		0.498	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		21	36	0	0	0	1	0	21	36					T	150493471	C	T	150493471	3	4	68	1	0	0	0	0	1	0	0	0	16090	835	29	2	649	2	TMEM176B	7	150493471	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08	10040335	150493471	8645192	7	1267											
KIAA1432	57589	broad.mit.edu	37	9	5765543	5765543	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr9:5765543G>A	ENST00000414202.2	+	20	3162	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	KIAA1432_ENST00000418622.3_Missense_Mutation_p.E912K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E991K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E912K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E875K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGGAGAATCTGAGACACCTCC	0.458																																						uc003zjl.4																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2860-2862)Gag>Aag		Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.							196	187	190					9																	5765543		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765543G>A																												ENST00000414202.2:c.2971G>A	9.37:g.5765543G>A	ENSP00000416696:p.Glu991Lys		Somatic				KIAA1432_uc003zjh.3_Missense_Mutation_p.E912K|KIAA1432_uc003zji.3_Missense_Mutation_p.E912K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E454K	p.E954K	NM_001206557	NP_001193486	WXS	Illumina GAIIx	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	3051	+		Acute lymphoblastic leukemia(23;0.154)	991						Missense_Mutation	SNP	ENST00000414202.2	37	c.2860G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281791	0.80692	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.92	5.92	0.95590	Ribosome control protein 1 (1);	0.137507	0.64402	D	0.000004	T	0.62380	0.2423	L	0.36672	1.1	0.80722	D	1	P;B;B;P	0.36354	0.549;0.123;0.123;0.493	B;B;B;B	0.43413	0.419;0.048;0.122;0.124	T	0.55692	-0.8101	9	0.29301	T	0.29	-19.4455	20.3151	0.98650	0.0:0.0:1.0:0.0	.	875;912;991;991	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	K	991;991;912;912;875	.	ENSP00000251879:E991K	E	+	1	0	KIAA1432	5755543	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.476000	0.97823	2.809000	0.96659	0.467000	0.42956	GAG		0.458	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			17	168	0	0	0	1	0	17	168					A	5765543	G	A	5765543	3	1	68	1	0	0	0	0	1	0	0	0	8233	1291	45	2	2808	2	KIAA1432	9	5765543	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08		5765543	135447888	8	1268											
BIN2	51411	broad.mit.edu	37	12	51696492	51696492	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr12:51696492T>C	ENST00000267012.4	-	4	351	c.290A>G	c.(289-291)gAg>gGg	p.E97G	BIN2_ENST00000452142.2_Missense_Mutation_p.E97G|BIN2_ENST00000604560.1_Missense_Mutation_p.E70G|BIN2_ENST00000544402.1_Missense_Mutation_p.E71G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	97	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTTCAGCTCCTCATGACCGTC	0.468																																						uc001ryg.3																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(289-291)gAg>gGg		Homo sapiens bridging integrator 2 (BIN2), mRNA.							236	212	220					12																	51696492		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51696492T>C	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.290A>G	12.37:g.51696492T>C	ENSP00000267012:p.Glu97Gly		Somatic				BIN2_uc009zlz.3_Missense_Mutation_p.E97G|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.E71G	p.E97G	NM_016293	NP_057377	WXS	Illumina GAIIx	Phase_I	Q9UBW5	BIN2_HUMAN			3	342	-			97			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.290A>G	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454155	0.26161	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.61859	0.07;0.07;0.07	5.18	3.87	0.44632	BAR (3);	0.135960	0.46758	D	0.000272	T	0.53899	0.1825	M	0.71206	2.165	0.35214	D	0.775389	P;P;P	0.35982	0.475;0.515;0.531	B;B;B	0.35688	0.131;0.208;0.206	T	0.68554	-0.5378	10	0.62326	D	0.03	-10.41	8.8272	0.35063	0.0:0.1251:0.0:0.8749	.	71;97;97	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	G	97;97;71	ENSP00000410217:E97G;ENSP00000267012:E97G;ENSP00000445874:E71G	ENSP00000267012:E97G	E	-	2	0	BIN2	49982759	0.975000	0.34042	0.997000	0.53966	0.022000	0.10575	1.888000	0.39708	2.102000	0.63906	0.533000	0.62120	GAG		0.468	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			3	164	0	0	0	1	0	3	164					C	51696492	T	C	51696492	3	2	68	1	0	0	0	0	1	0	0	0	1433	1551	54	3	1447	3	BIN2	12	51696492	Missense_Mutation	SNP	T	TCGA-DJ-A1QD-01A-11D-A14W-08		51696492	82155403	9	1269											
ACAN	176	broad.mit.edu	37	15	89401667	89401667	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr15:89401667G>A	ENST00000561243.1	+	11	5851	c.5851G>A	c.(5851-5853)Gcc>Acc	p.A1951T	ACAN_ENST00000352105.7_Missense_Mutation_p.A1951T|ACAN_ENST00000559004.1_Missense_Mutation_p.A1951T|ACAN_ENST00000439576.2_Missense_Mutation_p.A1951T			P16112	PGCA_HUMAN	aggrecan	1936	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTCCAACAGCCCAAGAGGC	0.517																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5851-5853)Gcc>Acc		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							44	46	45					15																	89401667		1878	4107	5985	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401667G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5851G>A	15.37:g.89401667G>A	ENSP00000453342:p.Ala1951Thr		Somatic				ACAN_uc010upp.1_Missense_Mutation_p.A1951T|ACAN_uc002bna.2_Non-coding_Transcript	p.A1951T	NM_013227	NP_037359	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		11	6225	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1951					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5851G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217451	0.39201	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02863	4.37;4.13	5.29	5.29	0.74685	.	0.000000	0.32503	N	0.006009	T	0.10337	0.0253	L	0.58302	1.8	0.27146	N	0.961539	P;D	0.71674	0.922;0.998	P;D	0.83275	0.791;0.996	T	0.16394	-1.0404	10	0.22706	T	0.39	-25.1749	11.4087	0.49913	0.0822:0.0:0.9178:0.0	.	1951;1951	E7ENV9;E7EX88	.;.	T	1951;1951;1837	ENSP00000387356:A1951T;ENSP00000341615:A1951T	ENSP00000268134:A1837T	A	+	1	0	ACAN	87202671	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.369000	0.59511	2.468000	0.83385	0.655000	0.94253	GCC		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		13	64	0	0	0	1	0	13	64					A	89401667	G	A	89401667	3	1	68	1	0	0	0	0	1	0	0	0	117	971	34	2	5893	2	ACAN	15	89401667	Missense_Mutation	SNP	G	TCGA-DJ-A1QD-01A-11D-A14W-08		89401667	13129725	10	1270											
KLHL10	317719	broad.mit.edu	37	17	40001678	40001678	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QD-01A-11D-A14W-08	TCGA-DJ-A1QD-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02432cdc-0578-4137-a58f-1283ba3cff5b	c370d1ca-9037-4ff8-98a8-201c758d33a5	g.chr17:40001678C>A	ENST00000293303.4	+	3	1138	c.985C>A	c.(985-987)Cgt>Agt	p.R329S		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	329					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGAGAGTCCCCGTGCCTACCA	0.493																																						uc010cxr.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(985-987)Cgt>Agt		Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.							80	79	79					17																	40001678		1944	4134	6078	SO:0001583	missense	317719					cytoplasm		g.chr17:40001678C>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.985C>A	17.37:g.40001678C>A	ENSP00000293303:p.Arg329Ser		Somatic				KLHL10_uc010wfv.1_Missense_Mutation_p.R323S|KLHL10_uc010wfw.2_Missense_Mutation_p.R241S	p.R329S	NM_152467	NP_689680	WXS	Illumina GAIIx	Phase_I	Q6JEL2	KLH10_HUMAN			2	1127	+		Breast(137;0.000162)	329					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.985C>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424103	0.83667	.	.	ENSG00000161594	ENST00000293303	D	0.85629	-2.01	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.053379	0.64402	D	0.000001	D	0.95430	0.8516	H	0.98370	4.215	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.75484	0.97;0.986	D	0.96414	0.9306	9	.	.	.	.	14.2995	0.66336	0.1485:0.8515:0.0:0.0	.	323;329	B4DXV2;Q6JEL2	.;KLH10_HUMAN	S	329	ENSP00000293303:R329S	.	R	+	1	0	KLHL10	37255204	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.471000	0.45127	2.941000	0.99782	0.655000	0.94253	CGT		0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		3	54	0	0	0	1	0	3	54					A	40001678	C	A	40001678	3	1	68	1	0	0	0	0	1	0	0	0	8366	652	23	4	995	4	KLHL10	17	40001678	Missense_Mutation	SNP	C	TCGA-DJ-A1QD-01A-11D-A14W-08		40001678	41193532	11	1271											
PLD5	200150	broad.mit.edu	37	1	242428743	242428743	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr1:242428743C>T	ENST00000536534.2	-	4	744	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PLD5_ENST00000442594.2_Missense_Mutation_p.R76H|PLD5_ENST00000474177.1_5'Flank|PLD5_ENST00000427495.1_Missense_Mutation_p.R106H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	168						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)			TTCAAAAAGACGTTGACCCTG	0.313																																						uc001hzn.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.(502-504)cGt>cAt		Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.							46	43	44					1																	242428743		2202	4300	6502	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242428743C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.503G>A	1.37:g.242428743C>T	ENSP00000440896:p.Arg168His		Somatic				PLD5_uc021pll.1_Missense_Mutation_p.R76H|PLD5_uc001hzl.4_Missense_Mutation_p.R106H|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Missense_Mutation_p.R76H	p.R168H	NM_152666	NP_001182741	WXS	Illumina GAIIx	Phase_I	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		4	730	-	Melanoma(84;0.242)		168					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.503G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618876	0.46736	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.44881	2.47;2.47;2.47;0.91	5.55	4.64	0.57946	.	0.233908	0.45867	D	0.000327	T	0.29914	0.0748	N	0.25890	0.77	0.42055	D	0.991136	B;B;B	0.21381	0.025;0.04;0.055	B;B;B	0.14578	0.005;0.003;0.011	T	0.08472	-1.0720	10	0.42905	T	0.14	-5.6817	11.6272	0.51153	0.0:0.9169:0.0:0.0831	.	76;168;106	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	H	106;76;168;106	ENSP00000401285:R106H;ENSP00000414188:R76H;ENSP00000440896:R168H;ENSP00000438191:R106H	ENSP00000401285:R106H	R	-	2	0	PLD5	240495366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.683000	0.37638	1.478000	0.48253	0.655000	0.94253	CGT		0.313	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		19	33	0	0	0	1	0	19	33					T	242428743	C	T	242428743	3	4	69	1	0	0	0	0	1	0	0	0	12049	536	19	1	1135	1	PLD5	1	242428743	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		242428743	6821878	1	1272											
PHF7	51533	broad.mit.edu	37	3	52454958	52454958	+	Silent	SNP	A	A	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:52454958A>G	ENST00000327906.3	+	7	1113	c.453A>G	c.(451-453)caA>caG	p.Q151Q	PHF7_ENST00000347025.2_Silent_p.Q151Q	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	151						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)		AGAACATCCAACATGGGCATG	0.468																																						uc003ddy.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(451-453)caA>caG		Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.							170	155	160					3																	52454958		2203	4300	6503	SO:0001819	synonymous_variant	51533					nucleus	zinc ion binding	g.chr3:52454958A>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.453A>G	3.37:g.52454958A>G			Somatic				PHF7_uc003ddz.3_Silent_p.Q151Q	p.Q151Q	NM_016483	NP_057567	WXS	Illumina GAIIx	Phase_I	Q9BWX1	PHF7_HUMAN		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)	6	1259	+			151					K4DI82	Silent	SNP	ENST00000327906.3	37	c.453A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	0.991	-0.693984	0.03303	.	.	ENSG00000010318	ENST00000454052;ENST00000461861	.	.	.	5.8	-9.83	0.00482	.	.	.	.	.	T	0.21550	0.0519	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.36040	-0.9764	5	0.62326	D	0.03	-1.0853	0.5498	0.00661	0.2029:0.2047:0.2783:0.3141	.	.	.	.	S	116;111	.	ENSP00000399257:N116S	N	+	2	0	PHF7	52429998	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	-0.562000	0.05950	-1.811000	0.01229	0.459000	0.35465	AAC		0.468	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		44	61	0	0	0	1	0	44	61					G	52454958	A	G	52454958	2	3	69	1	0	0	0	0	0	0	0	1	11839	40	2	3		3	PHF7	3	52454958	Silent	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08		52454958	145567472	2	1273											
PLA1A	51365	broad.mit.edu	37	3	119336952	119336952	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:119336952C>T	ENST00000273371.4	+	7	913	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S|PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	281					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						GATGGCCTTTCCCTGTGCCAG	0.498																																						uc003ecu.3																			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.(841-843)Ccc>Tcc		Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.							314	300	305					3																	119336952		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336952C>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.841C>T	3.37:g.119336952C>T	ENSP00000273371:p.Pro281Ser		Somatic				PLA1A_uc003ecv.3_Missense_Mutation_p.P265S|PLA1A_uc011bjc.2_Missense_Mutation_p.P108S|PLA1A_uc003ecw.3_Non-coding_Transcript	p.P281S	NM_015900	NP_001193890	WXS	Illumina GAIIx	Phase_I	Q53H76	PLA1A_HUMAN			6	907	+			281					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.841C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798465	0.90538	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92	5.26	5.26	0.73747	Lipase, N-terminal (1);	0.104023	0.64402	D	0.000002	D	0.95182	0.8438	M	0.64630	1.985	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94937	0.8088	10	0.49607	T	0.09	-22.2552	16.6467	0.85178	0.0:1.0:0.0:0.0	.	265;281	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	281;108;265;265;147	ENSP00000273371:P281S;ENSP00000420625:P108S;ENSP00000417326:P265S;ENSP00000418793:P265S;ENSP00000417295:P147S	ENSP00000273371:P281S	P	+	1	0	PLA1A	120819642	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.373000	0.79623	2.465000	0.83290	0.555000	0.69702	CCC		0.498	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			26	318	0	0	0	1	0	26	318					T	119336952	C	T	119336952	3	4	69	1	0	0	0	0	1	0	0	0	11988	855	30	2	867	2	PLA1A	3	119336952	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	66881994	119336952	78685478	3	1274											
RPL22L1	200916	broad.mit.edu	37	3	170586127	170586127	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr3:170586127G>T	ENST00000295830.8	-	2	377	c.62C>A	c.(61-63)aCt>aAt	p.T21N	RPL22L1_ENST00000463836.1_Missense_Mutation_p.T20N	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	21					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TACTGGATGAGTAAGGTCCAA	0.313																																						uc003fhc.4																			0				kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(61-63)aCt>aAt		Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA.							54	55	55					3																	170586127		1797	4074	5871	SO:0001583	missense	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170586127G>T	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.62C>A	3.37:g.170586127G>T	ENSP00000346080:p.Thr21Asn		Somatic				RPL22L1_uc003fhb.4_Non-coding_Transcript	p.T21N	NM_001099645	NP_001093115	WXS	Illumina GAIIx	Phase_I	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		1	151	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		21					Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	c.62C>A	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211042	0.95069	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.47528	0.84;0.84;0.84	5.77	5.77	0.91146	.	0.049077	0.85682	D	0.000000	T	0.70979	0.3286	M	0.89785	3.06	0.80722	D	1	P	0.52316	0.952	P	0.53954	0.738	T	0.76995	-0.2752	10	0.72032	D	0.01	.	19.9835	0.97338	0.0:0.0:1.0:0.0	.	21	Q6P5R6	RL22L_HUMAN	N	21;41;20	ENSP00000346080:T21N;ENSP00000419713:T41N;ENSP00000419041:T20N	ENSP00000346080:T21N	T	-	2	0	RPL22L1	172068821	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.629000	0.67798	2.726000	0.93360	0.655000	0.94253	ACT		0.313	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317		19	25	0	0	0	1	0	19	25					T	170586127	G	T	170586127	3	4	69	1	0	0	0	0	1	0	0	0	13569	1029	36	4	318	4	RPL22L1	3	170586127	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	51249175	170586127	27436303	4	1275											
LOX	4015	broad.mit.edu	37	5	121409788	121409788	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr5:121409788G>A	ENST00000231004.4	-	4	1254	c.955C>T	c.(955-957)Cac>Tac	p.H319Y	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	319	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTTGCTTTGTGGCCTTCAGCC	0.468																																						uc003ksu.3																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(955-957)Cac>Tac		Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.							163	147	152					5																	121409788		2203	4300	6503	SO:0001583	missense	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121409788G>A		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.955C>T	5.37:g.121409788G>A	ENSP00000231004:p.His319Tyr		Somatic				LOX_uc010jcp.3_Missense_Mutation_p.H22Y|LOX_uc010jcq.3_Missense_Mutation_p.H22Y|LOX_uc010jcr.3_Missense_Mutation_p.H22Y|LOX_uc011cwk.2_Missense_Mutation_p.H89Y	p.H319Y	NM_002317	NP_002308	WXS	Illumina GAIIx	Phase_I	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	3	1330	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	319			Lysyl-oxidase like.		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.955C>T	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187466	0.94923	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.39229	1.09	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79960	-0.1583	10	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	319	P28300	LYOX_HUMAN	Y	319;279	ENSP00000231004:H319Y	ENSP00000231004:H319Y	H	-	1	0	LOX	121437687	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CAC		0.468	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			4	123	0	0	0	1	0	4	123					A	121409788	G	A	121409788	3	1	69	1	0	0	0	0	1	0	0	0	8898	1348	47	2	314	2	LOX	5	121409788	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08		121409788	59505472	5	1276											
SPAM1	6677	broad.mit.edu	37	7	123599696	123599696	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:123599696C>G	ENST00000439500.1	+	6	1816	c.1203C>G	c.(1201-1203)aaC>aaG	p.N401K	SPAM1_ENST00000340011.5_Missense_Mutation_p.N401K|SPAM1_ENST00000402183.2_Missense_Mutation_p.N401K|SPAM1_ENST00000460182.1_Missense_Mutation_p.N401K|SPAM1_ENST00000223028.7_Missense_Mutation_p.N401K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	401					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACCTCAACCCAGATAATT	0.403																																						uc003vle.3																			0		p.L400F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1201-1203)aaC>aaG		Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						113	106	108					7																	123599696		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599696C>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1203C>G	7.37:g.123599696C>G	ENSP00000402123:p.Asn401Lys		Somatic				SPAM1_uc011koa.1_Missense_Mutation_p.N57K|SPAM1_uc003vld.3_Missense_Mutation_p.N401K|SPAM1_uc022aks.1_Missense_Mutation_p.N401K|SPAM1_uc003vlf.4_Missense_Mutation_p.N401K|SPAM1_uc010lku.3_Missense_Mutation_p.N401K	p.N401K	NM_003117	NP_003108	WXS	Illumina GAIIx	Phase_I	P38567	HYALP_HUMAN			4	1642	+			401					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1203C>G	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373169	0.61624	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.77	2.98	0.34508	.	0.149680	0.64402	D	0.000015	T	0.64571	0.2610	M	0.88450	2.955	0.36960	D	0.893286	D;D	0.69078	0.997;0.997	D;D	0.67725	0.931;0.953	T	0.73097	-0.4090	10	0.72032	D	0.01	-39.8518	9.3841	0.38331	0.0:0.713:0.0:0.287	.	401;401	Q8TC30;P38567	.;HYALP_HUMAN	K	401	ENSP00000386028:N401K;ENSP00000417934:N401K;ENSP00000345849:N401K;ENSP00000402123:N401K;ENSP00000223028:N401K	ENSP00000223028:N401K	N	+	3	2	SPAM1	123386932	0.522000	0.26266	0.639000	0.29394	0.629000	0.37895	0.744000	0.26245	0.917000	0.36895	0.650000	0.86243	AAC		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			9	69	0	0	0	1	0	9	69					G	123599696	C	G	123599696	3	3	69	1	0	0	0	0	1	0	0	0	14986	506	18	4	1213	4	SPAM1	7	123599696	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		123599696	35538967	6	1277											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	29	0	0	0	1	0	32	29					T	140453136	A	T	140453136	3	4	69	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08	16853440	140453136	18685527	7	1278											
KIAA0146	23514	broad.mit.edu	37	8	48625364	48625364	+	Silent	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:48625364T>C	ENST00000297423.4	+	15	2502	c.2118T>C	c.(2116-2118)tcT>tcC	p.S706S	SPIDR_ENST00000518074.1_Silent_p.S646S|SPIDR_ENST00000517693.1_Silent_p.S181S|SPIDR_ENST00000541342.1_Silent_p.S636S|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	706					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCTGGGCTCTGAAGTCCTGG	0.597																																						uc003xqd.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2116-2118)tcT>tcC		Homo sapiens KIAA0146 (KIAA0146), mRNA.							79	90	86					8																	48625364		2068	4195	6263	SO:0001819	synonymous_variant	23514							g.chr8:48625364T>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2118T>C	8.37:g.48625364T>C			Somatic				KIAA0146_uc011ldb.2_Silent_p.S706S|KIAA0146_uc010lxs.3_Silent_p.S181S|KIAA0146_uc011ldc.2_Silent_p.S636S|KIAA0146_uc011ldd.2_Silent_p.S646S|KIAA0146_uc003xqe.3_Silent_p.S181S|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Silent_p.S395S|KIAA0146_uc010lxt.3_Silent_p.S395S|KIAA0146_uc011ldf.2_Silent_p.S211S|KIAA0146_uc011ldg.2_Silent_p.S196S|KIAA0146_uc003xqg.1_5'Flank	p.S706S	NM_001080394	NP_001073863	WXS	Illumina GAIIx	Phase_I	Q14159	K0146_HUMAN			14	2180	+		Lung NSC(58;0.175)	706					B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.2118T>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	T	0.426	-0.905652	0.02453	.	.	ENSG00000164808	ENST00000519401	.	.	.	5.52	-11.0	0.00169	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	2.7776	0.05352	0.1816:0.0791:0.3438:0.3954	.	.	.	.	P	388	.	.	L	+	2	0	KIAA0146	48787917	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.589000	0.05767	-1.835000	0.01191	-1.096000	0.02151	CTG		0.597	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		3	101	0	0	0	1	0	3	101					C	48625364	T	C	48625364	2	2	69	1	0	0	0	0	0	0	0	1	8157	1567	55	3		3	KIAA0146	8	48625364	Silent	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		48625364	97738658	8	1279											
EXT1	2131	broad.mit.edu	37	8	118817027	118817027	+	Silent	SNP	A	A	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr8:118817027A>G	ENST00000378204.2	-	10	2795	c.1989T>C	c.(1987-1989)gcT>gcC	p.A663A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	663					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ATTTTGTCACAGCAGACACCA	0.468			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1987-1989)gcT>gcC		Homo sapiens exostosin 1 (EXT1), mRNA.							205	189	194					8																	118817027		2203	4300	6503	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118817027A>G	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1989T>C	8.37:g.118817027A>G			Somatic					p.A663A	NM_000127	NP_000118	WXS	Illumina GAIIx	Phase_I	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		9	2762	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		663					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.1989T>C	CCDS6324.1																																																																																				0.468	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		17	69	0	0	0	1	0	17	69					G	118817027	A	G	118817027	2	3	69	1	0	0	0	0	0	0	0	1	5323	175	7	3		3	EXT1	8	118817027	Silent	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08	70191663	118817027	27546995	9	1280											
C10orf93	54777	broad.mit.edu	37	10	134743170	134743170	+	Silent	SNP	C	C	T	rs201055150		TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr10:134743170C>T	ENST00000368585.3	-	9	1343	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGTGAGCAGCGCCTCATCCC	0.557																																						uc001llt.2																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(1003-1005)gcG>gcA		RecName: Full=TPR repeat-containing protein C10orf93;							136	125	128					10																	134743170		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134743170C>T																												ENST00000368585.3:c.1005G>A	10.37:g.134743170C>T			Somatic				TTC40_uc021qbc.1_Intron	p.A335A	NM_173572	NP_775843	WXS	Illumina GAIIx	Phase_I	Q8IYW2	CJ092_HUMAN			8	1106	-			0						Silent	SNP	ENST00000368585.3	37	c.1005G>A																																																																																					0.557	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			12	85	0	0	0	1	0	12	85					T	134743170	C	T	134743170	2	4	69	1	0	0	0	0	0	0	0	1	1625	755	27	1		1	C10orf93	10	134743170	Silent	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		134743170	791577	10	1281											
APBB1	322	broad.mit.edu	37	11	6422254	6422254	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:6422254T>C	ENST00000609360.1	-	12	1736	c.1637A>G	c.(1636-1638)tAt>tGt	p.Y546C	APBB1_ENST00000529519.1_Missense_Mutation_p.Y71C|APBB1_ENST00000299402.6_Missense_Mutation_p.Y544C|APBB1_ENST00000530885.1_Missense_Mutation_p.Y324C|APBB1_ENST00000608394.1_Missense_Mutation_p.Y287C|APBB1_ENST00000311051.3_Missense_Mutation_p.Y544C|APBB1_ENST00000609331.1_Missense_Mutation_p.Y311C|APBB1_ENST00000608645.1_Missense_Mutation_p.Y287C|APBB1_ENST00000389906.2_Missense_Mutation_p.Y546C|APBB1_ENST00000608655.1_Missense_Mutation_p.Y326C|APBB1_ENST00000608704.1_Missense_Mutation_p.Y287C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	546	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGGTAATAGACTTGGAA	0.498																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1630-1632)tAt>tGt		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.							267	270	269					11																	6422254		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422254T>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1637A>G	11.37:g.6422254T>C	ENSP00000477213:p.Tyr546Cys		Somatic				APBB1_uc001mdd.3_Missense_Mutation_p.Y324C|APBB1_uc001mdc.1_Missense_Mutation_p.Y544C|APBB1_uc010rab.2_Missense_Mutation_p.Y71C	p.Y544C	NM_001164	NP_001155	WXS	Illumina GAIIx	Phase_I	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	10	1731	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	546			PID 2.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1631A>G		.	.	.	.	.	.	.	.	.	.	T	13.55	2.272053	0.40194	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.88	4.88	0.63580	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000002	T	0.30230	0.0758	L	0.36672	1.1	0.42866	D	0.994123	D;D;D	0.76494	0.998;0.997;0.999	D;P;D	0.66847	0.947;0.905;0.932	T	0.03221	-1.1059	10	0.40728	T	0.16	-9.7275	7.9293	0.29893	0.1829:0.0:0.0:0.8171	.	546;324;544	O00213;B7Z2Y0;O00213-2	APBB1_HUMAN;.;.	C	544;544;546;395;287;311;324	ENSP00000299402:Y544C;ENSP00000311912:Y544C;ENSP00000374556:Y546C;ENSP00000433338:Y324C	ENSP00000299402:Y544C	Y	-	2	0	APBB1	6378830	0.947000	0.32204	1.000000	0.80357	0.999000	0.98932	1.628000	0.37060	2.051000	0.60960	0.528000	0.53228	TAT		0.498	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		156	177	0	0	0	1	0	156	177					C	6422254	T	C	6422254	3	2	69	1	0	0	0	0	1	0	0	0	759	1406	49	3	511	3	APBB1	11	6422254	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		6422254	128584262	11	1282											
PIK3C2A	5286	broad.mit.edu	37	11	17190952	17190952	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr11:17190952T>G	ENST00000265970.7	-	1	336	c.337A>C	c.(337-339)Aaa>Caa	p.K113Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	113	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ACAGGTGTTTTTTTAGTCTCG	0.403																																						uc001mmq.4																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(337-339)Aaa>Caa		Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	Phosphatidylserine(DB00144)						127	124	125					11																	17190952		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190952T>G	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.337A>C	11.37:g.17190952T>G	ENSP00000265970:p.Lys113Gln		Somatic				PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.K113Q|PIK3C2A_uc009ygv.1_Missense_Mutation_p.K113Q	p.K113Q	NM_002645	NP_002636	WXS	Illumina GAIIx	Phase_I	O00443	P3C2A_HUMAN			0	402	-			113			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.337A>C	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961888	0.53400	.	.	ENSG00000011405	ENST00000265970;ENST00000544896;ENST00000532035	T	0.65549	-0.16	5.53	5.53	0.82687	.	0.194123	0.53938	D	0.000041	T	0.55561	0.1928	L	0.32530	0.975	0.80722	D	1	P;B	0.41188	0.741;0.058	B;B	0.40940	0.344;0.03	T	0.61292	-0.7092	10	0.66056	D	0.02	-6.4394	15.6399	0.76989	0.0:0.0:0.0:1.0	.	113;113	F5H5W9;O00443	.;P3C2A_HUMAN	Q	113	ENSP00000265970:K113Q	ENSP00000265970:K113Q	K	-	1	0	PIK3C2A	17147528	1.000000	0.71417	0.962000	0.40283	0.984000	0.73092	4.523000	0.60545	2.094000	0.63399	0.482000	0.46254	AAA		0.403	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		12	133	0	0	0	1	0	12	133					G	17190952	T	G	17190952	3	3	69	1	0	0	0	0	1	0	0	0	11909	1850	64	5	4851	5	PIK3C2A	11	17190952	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08	10768698	17190952	117815564	12	1283											
MMP17	4326	broad.mit.edu	37	12	132334395	132334395	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr12:132334395C>T	ENST00000360564.1	+	9	1355	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.P334L	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	418					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GAAGGATACCCGCGCCCCGTC	0.617																																						uc001ujc.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1252-1254)cCg>cTg		Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.							92	95	94					12																	132334395		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132334395C>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1253C>T	12.37:g.132334395C>T	ENSP00000353767:p.Pro418Leu		Somatic				MMP17_uc001ujd.1_Missense_Mutation_p.P334L	p.P418L	NM_016155	NP_057239	WXS	Illumina GAIIx	Phase_I	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	8	1352	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		418			Hemopexin-like 2.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1253C>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800237	0.90538	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865;ENST00000542648	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	4.48	4.48	0.54585	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.59021	-0.7532	10	0.87932	D	0	.	17.1756	0.86841	0.0:1.0:0.0:0.0	.	418	Q9ULZ9	MMP17_HUMAN	L	418;334;259;48	ENSP00000353767:P418L;ENSP00000441106:P334L;ENSP00000442104:P259L;ENSP00000439542:P48L	ENSP00000353767:P418L	P	+	2	0	MMP17	130900348	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	7.727000	0.84838	2.054000	0.61138	0.471000	0.43371	CCG		0.617	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		5	80	0	0	0	1	0	5	80					T	132334395	C	T	132334395	3	4	69	1	0	0	0	0	1	0	0	0	9656	652	23	1	1287	1	MMP17	12	132334395	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		132334395	1517500	13	1284											
FAM179B	23116	broad.mit.edu	37	14	45542645	45542645	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:45542645T>C	ENST00000361577.3	+	19	5258	c.5044T>C	c.(5044-5046)Tca>Cca	p.S1682P	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.S1735P	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1682										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCTAAATTATCAAAAGCACT	0.408																																						uc001wvw.3																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(5203-5205)Tca>Cca		Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.							118	118	118					14																	45542645		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45542645T>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5044T>C	14.37:g.45542645T>C	ENSP00000355045:p.Ser1682Pro		Somatic				FAM179B_uc001wvv.3_Missense_Mutation_p.S1682P|FAM179B_uc010anc.3_Non-coding_Transcript	p.S1735P	NM_015091	NP_055906	WXS	Illumina GAIIx	Phase_I	Q9Y4F4	F179B_HUMAN			19	5412	+			1682					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.5203T>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352243	0.41700	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.64618	2.21;-0.11;2.59	5.78	5.78	0.91487	Armadillo-type fold (1);	0.132092	0.53938	D	0.000049	T	0.71753	0.3377	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.65323	0.889;0.934	T	0.73183	-0.4063	10	0.54805	T	0.06	-14.3475	14.332	0.66564	0.0:0.0:0.0:1.0	.	1735;1682	G3XAE9;Q9Y4F4	.;F179B_HUMAN	P	1682;1735;117	ENSP00000355045:S1682P;ENSP00000354917:S1735P;ENSP00000450465:S117P	ENSP00000354917:S1735P	S	+	1	0	FAM179B	44612395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.555000	0.45854	2.210000	0.71456	0.533000	0.62120	TCA		0.408	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		9	44	0	0	0	1	0	9	44					C	45542645	T	C	45542645	3	2	69	1	0	0	0	0	1	0	0	0	5506	1435	50	3	5118	3	FAM179B	14	45542645	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08		45542645	61806895	14	1285											
PPP1R13B	23368	broad.mit.edu	37	14	104224043	104224043	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr14:104224043T>C	ENST00000202556.9	-	5	682	c.400A>G	c.(400-402)Atg>Gtg	p.M134V		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	134	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTAGCTGCCATATCTTGGAGC	0.388																																						uc001yof.1																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(400-402)Atg>Gtg		Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.							126	119	121					14																	104224043		1873	4101	5974	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104224043T>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.400A>G	14.37:g.104224043T>C	ENSP00000202556:p.Met134Val		Somatic				PPP1R13B_uc001yog.1_Missense_Mutation_p.M1V	p.M134V	NM_015316	NP_056131	WXS	Illumina GAIIx	Phase_I	Q96KQ4	ASPP1_HUMAN			4	683	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	134			Gln-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.400A>G	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.535091	0.85812	.	.	ENSG00000088808	ENST00000202556;ENST00000380023;ENST00000555734	T;T	0.30182	1.54;1.54	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.60455	1.87	0.80722	D	1	P	0.40875	0.731	B	0.43950	0.437	T	0.29336	-1.0015	10	0.87932	D	0	.	16.3648	0.83312	0.0:0.0:0.0:1.0	.	134	Q96KQ4	ASPP1_HUMAN	V	134;1;131	ENSP00000202556:M134V;ENSP00000452376:M131V	ENSP00000202556:M134V	M	-	1	0	PPP1R13B	103293796	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	7.698000	0.84413	2.263000	0.75096	0.533000	0.62120	ATG		0.388	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		4	90	0	0	0	1	0	4	90					C	104224043	T	C	104224043	3	2	69	1	0	0	0	0	1	0	0	0	12357	1406	49	3	2924	3	PPP1R13B	14	104224043	Missense_Mutation	SNP	T	TCGA-DJ-A1QE-01A-21D-A14W-08	58681398	104224043	3125497	15	1286											
PRPF8	10594	broad.mit.edu	37	17	1564570	1564570	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:1564570A>C	ENST00000572621.1	-	26	4598	c.4333T>G	c.(4333-4335)Tat>Gat	p.Y1445D	PRPF8_ENST00000304992.6_Missense_Mutation_p.Y1445D			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1445	Linker.				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)		CATACCTGATACTGCTTAAAG	0.512																																						uc002fte.3																			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.(4333-4335)Tat>Gat		Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.							136	121	126					17																	1564570		2203	4300	6503	SO:0001583	missense	10594					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	g.chr17:1564570A>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4333T>G	17.37:g.1564570A>C	ENSP00000460348:p.Tyr1445Asp		Somatic					p.Y1445D	NM_006445	NP_006436	WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	26	4447	-			1445					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4333T>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	16.00	2.998001	0.54147	.	.	ENSG00000174231	ENST00000304992	D	0.85339	-1.97	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92512	0.7622	M	0.82517	2.595	0.80722	D	1	P	0.50272	0.933	P	0.62885	0.908	D	0.93222	0.6609	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1445	Q6P2Q9	PRP8_HUMAN	D	1445	ENSP00000304350:Y1445D	ENSP00000304350:Y1445D	Y	-	1	0	PRPF8	1511320	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	TAT		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			23	100	0	0	0	1	0	23	100					C	1564570	A	C	1564570	3	2	69	1	0	0	0	0	1	0	0	0	12575	391	14	5	2742	5	PRPF8	17	1564570	Missense_Mutation	SNP	A	TCGA-DJ-A1QE-01A-21D-A14W-08		1564570	79630640	16	1287											
NBR1	4077	broad.mit.edu	37	17	41342634	41342634	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:41342634C>T	ENST00000422280.1	+	9	1163	c.704C>T	c.(703-705)cCa>cTa	p.P235L	NBR1_ENST00000389312.4_Missense_Mutation_p.P235L|NBR1_ENST00000590996.1_Missense_Mutation_p.P235L|NBR1_ENST00000341165.6_Missense_Mutation_p.P235L|NBR1_ENST00000589872.1_Missense_Mutation_p.P235L|NBR1_ENST00000542611.1_Missense_Mutation_p.P214L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	235					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCCTATGCCCATCCTACAAT	0.483																																						uc010czd.3																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(703-705)cCa>cTa		Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 3, mRNA.							84	75	78					17																	41342634		1932	4145	6077	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41342634C>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.704C>T	17.37:g.41342634C>T	ENSP00000411250:p.Pro235Leu		Somatic				NBR1_uc010diz.3_Missense_Mutation_p.P235L|NBR1_uc010whu.2_Missense_Mutation_p.P235L|NBR1_uc010whv.2_Missense_Mutation_p.P235L|NBR1_uc010whw.2_Missense_Mutation_p.P214L|NBR1_uc010whx.1_Missense_Mutation_p.P44L	p.P235L	NM_031862	NP_114068	WXS	Illumina GAIIx	Phase_I	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	8	844	+		Breast(137;0.00086)	235					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.704C>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614392	0.87359	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.175668	0.50627	D	0.000104	D	0.95379	0.8500	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.977;0.993	D	0.95317	0.8417	10	0.66056	D	0.02	-10.685	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	235;214;235;235	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	L	235;214;235;235;235	ENSP00000411250:P235L;ENSP00000437545:P214L;ENSP00000343479:P235L;ENSP00000373963:P235L	ENSP00000343479:P235L	P	+	2	0	NBR1	38596160	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.978000	0.56881	2.832000	0.97577	0.655000	0.94253	CCA		0.483	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		4	10	0	0	0	1	0	4	10					T	41342634	C	T	41342634	3	4	69	1	0	0	0	0	1	0	0	0	10200	594	21	2	734	2	NBR1	17	41342634	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	39778064	41342634	39852576	17	1288											
ITGA3	3675	broad.mit.edu	37	17	48156258	48156258	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr17:48156258G>A	ENST00000320031.8	+	19	2698	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	ITGA3_ENST00000007722.7_Missense_Mutation_p.D790N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	790					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AACTGTGGAGGATGTAGGAAG	0.517																																						uc010dbm.3																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2368-2370)Gat>Aat		Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.							98	102	101					17																	48156258		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156258G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2368G>A	17.37:g.48156258G>A	ENSP00000315190:p.Asp790Asn		Somatic				ITGA3_uc010dbl.3_Missense_Mutation_p.D790N	p.D790N	NM_005501	NP_005492	WXS	Illumina GAIIx	Phase_I	P26006	ITA3_HUMAN			18	2832	+			790					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2368G>A	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.838836|4.838836	0.91117|0.91117	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031|ENST00000506827	T;T|.	0.56776|.	0.44;0.44|.	4.77|4.77	3.79|3.79	0.43588|0.43588	Integrin alpha-2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72503|0.72503	0.3468|0.3468	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.91635|.	0.999;0.936|.	T|T	0.73827|0.73827	-0.3860|-0.3860	10|5	0.54805|.	T|.	0.06|.	.|.	12.0629|12.0629	0.53572|0.53572	0.0858:0.0:0.9142:0.0|0.0858:0.0:0.9142:0.0	.|.	790;790|.	P26006-1;P26006|.	.;ITA3_HUMAN|.	N|E	790;776;790|168	ENSP00000007722:D790N;ENSP00000315190:D790N|.	ENSP00000007722:D790N|.	D|G	+|+	1|2	0|0	ITGA3|ITGA3	45511257|45511257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.269000|5.269000	0.65542|0.65542	1.373000|1.373000	0.46208|0.46208	0.491000|0.491000	0.48974|0.48974	GAT|GGA		0.517	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		42	71	0	0	0	1	0	42	71					A	48156258	G	A	48156258	3	1	69	1	0	0	0	0	1	0	0	0	7877	1174	41	2	2442	2	ITGA3	17	48156258	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	6813624	48156258	33038952	18	1289											
MED16	10025	broad.mit.edu	37	19	889754	889754	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:889754C>T	ENST00000589119.1	-	3	330	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	MED16_ENST00000325464.1_Missense_Mutation_p.A111T|MED16_ENST00000312090.6_Missense_Mutation_p.A111T|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.A111T|MED16_ENST00000395808.3_Missense_Mutation_p.A111T			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	111					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		AGGTGGTCCGCCATGCTCCAG	0.617																																						uc002lqd.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(331-333)Gcg>Acg		Homo sapiens mediator complex subunit 16 (MED16), mRNA.							53	40	45					19																	889754		2202	4300	6502	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:889754C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.331G>A	19.37:g.889754C>T	ENSP00000464810:p.Ala111Thr		Somatic				MED16_uc002lqe.3_Missense_Mutation_p.A100T|MED16_uc002lqf.3_Missense_Mutation_p.A100T|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.A100T|MED16_uc010xfx.1_Missense_Mutation_p.A100T|MED16_uc010xfy.1_Missense_Mutation_p.A100T	p.A111T	NM_005481	NP_005472	WXS	Illumina GAIIx	Phase_I	Q9Y2X0	MED16_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)	3	482	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	111					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.331G>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168109	0.38315	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	4.03	2.86	0.33363	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.425849	0.24930	N	0.034465	T	0.03136	0.0092	N	0.02539	-0.55	0.28557	N	0.91132	B;B;B;B;B	0.10296	0.003;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.0;0.0;0.001;0.001	T	0.38520	-0.9657	10	0.16420	T	0.52	-2.9385	3.9938	0.09549	0.2232:0.5611:0.0:0.2157	.	111;111;111;111;111	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	T	111	ENSP00000325612:A111T;ENSP00000308528:A111T;ENSP00000379153:A111T;ENSP00000269814:A111T	ENSP00000269814:A111T	A	-	1	0	MED16	840754	1.000000	0.71417	0.988000	0.46212	0.918000	0.54935	1.158000	0.31737	1.814000	0.52955	0.491000	0.48974	GCG		0.617	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		5	12	0	0	0	1	0	5	12					T	889754	C	T	889754	3	4	69	1	0	0	0	0	1	0	0	0	9434	739	26	2	2354	2	MED16	19	889754	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		889754	58239229	19	1290											
ZNF700	90592	broad.mit.edu	37	19	12059975	12059975	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chr19:12059975C>A	ENST00000254321.5	+	4	1279	c.1136C>A	c.(1135-1137)aCa>aAa	p.T379K	ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.T361K|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCATTTCAAACACATGAAAAA	0.353																																						uc010xme.2																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1189-1191)aCa>aAa		Homo sapiens zinc finger protein 700 (ZNF700), mRNA.							52	56	55					19																	12059975		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059975C>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1136C>A	19.37:g.12059975C>A	ENSP00000254321:p.Thr379Lys		Somatic				ZNF700_uc002msu.3_Missense_Mutation_p.T379K|ZNF700_uc010xmf.2_Intron	p.T397K			WXS	Illumina GAIIx	Phase_I	Q9H0M5	ZN700_HUMAN			4	1381	+			379					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1190C>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.595136	0.00008	.	.	ENSG00000196757	ENST00000254321	T	0.07216	3.21	0.672	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.02129	-0.67	0.09310	N	1	B	0.30455	0.28	B	0.32090	0.14	T	0.27297	-1.0078	9	0.05721	T	0.95	.	0.7673	0.01017	0.2:0.3636:0.2002:0.2362	.	379	Q9H0M5	ZN700_HUMAN	K	379	ENSP00000254321:T379K	ENSP00000254321:T379K	T	+	2	0	ZNF700	11920975	0.000000	0.05858	0.002000	0.10522	0.153000	0.21895	-5.433000	0.00123	-2.720000	0.00389	-1.865000	0.00557	ACA		0.353	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	64	0	0	0	1	0	3	64					A	12059975	C	A	12059975	3	1	69	1	0	0	0	0	1	0	0	0	18101	478	17	4	1150	4	ZNF700	19	12059975	Missense_Mutation	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08	11170221	12059975	47069008	20	1291											
ARSE	415	broad.mit.edu	37	X	2864076	2864076	+	Silent	SNP	C	C	A			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:2864076C>A	ENST00000381134.3	-	7	1020	c.954G>T	c.(952-954)ctG>ctT	p.L318L	ARSE_ENST00000540563.1_Silent_p.L273L|ARSE_ENST00000545496.1_Silent_p.L343L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	318					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|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)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				TGTCCCCATACAGCCCGTGGA	0.498																																						uc011mhh.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1027-1029)ctG>ctT		Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.							120	107	111					X																	2864076		2203	4300	6503	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2864076C>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.954G>T	X.37:g.2864076C>A			Somatic				ARSE_uc011mhi.2_Silent_p.L264L|ARSE_uc004crc.4_Silent_p.L318L	p.L343L			WXS	Illumina GAIIx	Phase_I	P51690	ARSE_HUMAN			7	1490	-		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)	318					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.1029G>T	CCDS14122.1																																																																																				0.498	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		44	63	0	0	0	1	0	44	63					A	2864076	C	A	2864076	2	1	69	1	0	0	0	0	0	0	0	1	990	465	17	4		4	ARSE	23	2864076	Silent	SNP	C	TCGA-DJ-A1QE-01A-21D-A14W-08		2864076	152406484	21	1292											
USP51	158880	broad.mit.edu	37	X	55514742	55514742	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QE-01A-21D-A14W-08	TCGA-DJ-A1QE-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f45d79-f4d0-4652-8cb5-08e2bbac043d	7f5fa0d9-7c50-432d-852e-de290831bc52	g.chrX:55514742G>C	ENST00000500968.3	-	2	713	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502																																						uc004dun.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(631-633)Ctg>Gtg		Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.							77	63	68					X																	55514742		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514742G>C	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.631C>G	X.37:g.55514742G>C	ENSP00000423333:p.Leu211Val		Somatic				USP51_uc022bxu.1_Missense_Mutation_p.L211V	p.L211V	NM_201286	NP_958443	WXS	Illumina GAIIx	Phase_I	Q70EK9	UBP51_HUMAN			1	710	-			211					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.631C>G	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	12.19	1.862429	0.32884	.	.	ENSG00000247746	ENST00000500968	T	0.62788	-0.0	2.93	2.07	0.26955	Zinc finger, RING/FYVE/PHD-type (1);	0.182827	0.27677	U	0.018319	T	0.49949	0.1587	L	0.34521	1.04	0.42954	D	0.994384	P	0.47484	0.896	P	0.44732	0.459	T	0.48151	-0.9060	10	0.54805	T	0.06	.	7.4429	0.27194	0.1426:0.0:0.8574:0.0	.	211	Q70EK9	UBP51_HUMAN	V	211	ENSP00000423333:L211V	ENSP00000423333:L211V	L	-	1	2	USP51	55531467	1.000000	0.71417	0.291000	0.24904	0.800000	0.45204	5.107000	0.64603	0.644000	0.30656	-0.329000	0.08387	CTG		0.502	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		6	36	0	0	0	1	0	6	36					C	55514742	G	C	55514742	3	2	69	1	0	0	0	0	1	0	0	0	17080	991	35	4	1508	4	USP51	23	55514742	Missense_Mutation	SNP	G	TCGA-DJ-A1QE-01A-21D-A14W-08	52650666	55514742	99755818	22	1293											
ANGPTL1	9068	broad.mit.edu	37	1	178834453	178834453	+	Silent	SNP	T	T	C			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr1:178834453T>C	ENST00000234816.2	-	3	906	c.459A>G	c.(457-459)caA>caG	p.Q153Q	ANGPTL1_ENST00000367629.1_Silent_p.Q153Q|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	153					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TGTTTTCCAGTTGGGAAAGTT	0.388																																						uc001gma.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(457-459)caA>caG		Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.							104	97	99					1																	178834453		2203	4300	6503	SO:0001819	synonymous_variant	9068					extracellular space	receptor binding	g.chr1:178834453T>C	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.459A>G	1.37:g.178834453T>C			Somatic				RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Silent_p.Q153Q|ANGPTL1_uc010pnc.1_Silent_p.Q75Q	p.Q153Q	NM_004673	NP_004664	WXS	Illumina GAIIx	Phase_I	O95841	ANGL1_HUMAN			2	935	-			153					Q5T5Z5	Silent	SNP	ENST00000234816.2	37	c.459A>G	CCDS1327.1																																																																																				0.388	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		11	26	0	0	0	1	0	11	26					C	178834453	T	C	178834453	2	2	70	1	0	0	0	0	0	0	0	1	613	1722	60	3		3	ANGPTL1	1	178834453	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		178834453	70416168	1	1294											
KCTD3	51133	broad.mit.edu	37	1	215792548	215792548	+	Silent	SNP	T	T	C			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr1:215792548T>C	ENST00000259154.4	+	17	2095	c.1801T>C	c.(1801-1803)Ttg>Ctg	p.L601L	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	601					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCAATGTGATTTGAGCACATC	0.393																																						uc001hks.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1801-1803)Ttg>Ctg		Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.							132	135	134					1																	215792548		2203	4300	6503	SO:0001819	synonymous_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215792548T>C	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1801T>C	1.37:g.215792548T>C			Somatic				KCTD3_uc001hkt.3_Silent_p.L599L|KCTD3_uc010pub.2_Silent_p.L499L|KCTD3_uc009xdn.3_Silent_p.L325L	p.L601L	NM_016121	NP_057205	WXS	Illumina GAIIx	Phase_I	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	16	2095	+			601					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	ENST00000259154.4	37	c.1801T>C	CCDS1515.1																																																																																				0.393	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		18	88	0	0	0	1	0	18	88					C	215792548	T	C	215792548	2	2	70	1	0	0	0	0	0	0	0	1	8110	1838	64	3		3	KCTD3	1	215792548	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08	36958095	215792548	33458073	2	1295											
SENP7	57337	broad.mit.edu	37	3	101090962	101090962	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr3:101090962T>G	ENST00000394095.2	-	7	739	c.686A>C	c.(685-687)cAa>cCa	p.Q229P	SENP7_ENST00000394091.1_Missense_Mutation_p.Q65P|SENP7_ENST00000348610.3_Missense_Mutation_p.Q196P|SENP7_ENST00000358203.3_Missense_Mutation_p.Q65P|SENP7_ENST00000394094.2_Missense_Mutation_p.Q164P|SENP7_ENST00000314261.7_Missense_Mutation_p.Q163P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	229						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTACTTCGTTGTGAGCCCCT	0.348																																						uc003dut.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(685-687)cAa>cCa		Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.							114	109	111					3																	101090962		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101090962T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.686A>C	3.37:g.101090962T>G	ENSP00000377655:p.Gln229Pro		Somatic				SENP7_uc003duu.3_Missense_Mutation_p.Q164P|SENP7_uc003duv.3_Missense_Mutation_p.Q196P|SENP7_uc003duw.3_Missense_Mutation_p.Q163P|SENP7_uc003dux.3_Missense_Mutation_p.Q65P	p.Q229P	NM_020654	NP_065705	WXS	Illumina GAIIx	Phase_I	Q9BQF6	SENP7_HUMAN			6	797	-			229					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.686A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	10.49	1.364298	0.24684	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.21031	2.12;2.11;2.13;2.03;2.03;2.12	5.1	3.94	0.45596	.	0.420489	0.20548	N	0.090172	T	0.32133	0.0819	L	0.56769	1.78	0.09310	N	1	D;D;D;P	0.57571	0.98;0.98;0.967;0.944	P;P;P;P	0.56088	0.731;0.731;0.791;0.623	T	0.09058	-1.0692	10	0.56958	D	0.05	-2.4716	7.7962	0.29148	0.0:0.0961:0.0:0.9039	.	65;163;196;229	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	P	229;164;163;65;65;196	ENSP00000377655:Q229P;ENSP00000377654:Q164P;ENSP00000313624:Q163P;ENSP00000377651:Q65P;ENSP00000350936:Q65P;ENSP00000342159:Q196P	ENSP00000313624:Q163P	Q	-	2	0	SENP7	102573652	0.914000	0.31030	0.039000	0.18376	0.006000	0.05464	1.358000	0.34102	0.897000	0.36392	-0.361000	0.07541	CAA		0.348	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		3	88	0	0	0	1	0	3	88					G	101090962	T	G	101090962	3	3	70	1	0	0	0	0	1	0	0	0	14051	1812	63	5	2538	5	SENP7	3	101090962	Missense_Mutation	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		101090962	96931468	3	1296											
KIAA0141	9812	broad.mit.edu	37	5	141307808	141307808	+	Silent	SNP	C	C	A			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr5:141307808C>A	ENST00000432126.2	+	4	491	c.357C>A	c.(355-357)tcC>tcA	p.S119S	KIAA0141_ENST00000194118.4_Silent_p.S119S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	119					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACTGCTCCTGGCACAGTC	0.627																																						uc003lls.3																			0		p.C118*(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(355-357)tcC>tcA		Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							108	99	102					5																	141307808		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141307808C>A	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.357C>A	5.37:g.141307808C>A			Somatic				KIAA0141_uc003llt.3_Silent_p.S119S	p.S119S	NM_001142603	NP_055588	WXS	Illumina GAIIx	Phase_I	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	479	+		all_hematologic(541;0.118)	119					Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.357C>A	CCDS4268.1																																																																																				0.627	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		6	58	0	0	0	1	0	6	58					A	141307808	C	A	141307808	2	1	70	1	0	0	0	0	0	0	0	1	8156	668	24	4		4	KIAA0141	5	141307808	Silent	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08		141307808	39607452	4	1297											
STC2	8614	broad.mit.edu	37	5	172755126	172755126	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr5:172755126C>G	ENST00000265087.4	-	1	1380	c.71G>C	c.(70-72)gGg>gCg	p.G24A		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	24					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGTCGGTCCCCCGCGCCGG	0.637																																						uc003mco.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(70-72)gGg>gCg		Homo sapiens stanniocalcin 2 (STC2), mRNA.							102	105	104					5																	172755126		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172755126C>G	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.71G>C	5.37:g.172755126C>G	ENSP00000265087:p.Gly24Ala		Somatic				STC2_uc003mcn.1_5'Flank	p.G24A	NM_003714	NP_003705	WXS	Illumina GAIIx	Phase_I	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		0	1381	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	24						Missense_Mutation	SNP	ENST00000265087.4	37	c.71G>C	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948269	0.73787	.	.	ENSG00000113739	ENST00000265087	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	D	0.67548	0.952	T	0.76705	-0.2861	9	0.56958	D	0.05	-33.512	17.0331	0.86466	0.0:1.0:0.0:0.0	.	24	O76061	STC2_HUMAN	A	24	.	ENSP00000265087:G24A	G	-	2	0	STC2	172687732	1.000000	0.71417	0.991000	0.47740	0.236000	0.25371	6.509000	0.73725	2.554000	0.86153	0.655000	0.94253	GGG		0.637	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		22	101	0	0	0	1	0	22	101					G	172755126	C	G	172755126	3	3	70	1	0	0	0	0	1	0	0	0	15275	623	22	4	853	4	STC2	5	172755126	Missense_Mutation	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08	31447318	172755126	8160134	5	1298											
SRPK2	6733	broad.mit.edu	37	7	104782687	104782687	+	Silent	SNP	T	T	C			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr7:104782687T>C	ENST00000393651.3	-	11	1398	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	SRPK2_ENST00000489828.1_Silent_p.T426T|SRPK2_ENST00000357311.3_Silent_p.T426T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGCTGCTATATGTGTAATCAC	0.428																																						uc003vcv.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(1309-1311)acA>acG		Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 1, mRNA.							196	186	189					7																	104782687		2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782687T>C	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1311A>G	7.37:g.104782687T>C			Somatic				SRPK2_uc003vct.3_Silent_p.T426T|SRPK2_uc003vcu.3_Silent_p.T426T|SRPK2_uc003vcw.1_Silent_p.T426T	p.T437T	NM_182692	NP_872634	WXS	Illumina GAIIx	Phase_I	P78362	SRPK2_HUMAN			10	1399	-			426			Protein kinase.			Silent	SNP	ENST00000393651.3	37	c.1311A>G	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	8.959	0.970114	0.18659	.	.	ENSG00000135250	ENST00000477925	.	.	.	5.32	-9.6	0.00553	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.51309	-0.8722	4	.	.	.	-11.4267	6.6801	0.23115	0.1911:0.5414:0.0771:0.1904	.	.	.	.	V	33	.	.	I	-	1	0	SRPK2	104569923	0.104000	0.21937	0.654000	0.29608	0.991000	0.79684	-0.743000	0.04845	-1.880000	0.01125	-0.375000	0.07067	ATA		0.428	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		8	139	0	0	0	1	0	8	139					C	104782687	T	C	104782687	2	2	70	1	0	0	0	0	0	0	0	1	15159	1451	51	3		3	SRPK2	7	104782687	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		104782687	54355976	6	1299											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	45	0	0	0	1	0	30	45					T	140453136	A	T	140453136	3	4	70	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QF-01A-12D-A14W-08	35670449	140453136	18685527	7	1300											
IFIT1B	439996	broad.mit.edu	37	10	91144286	91144286	+	Silent	SNP	T	T	C			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr10:91144286T>C	ENST00000371809.3	+	2	1296	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	406										endometrium(2)|large_intestine(3)|lung(8)	13						TTTAAAAGGTTTGAAAATAGA	0.363																																						uc001kgh.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(1216-1218)Ttg>Ctg		Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.							74	77	76					10																	91144286		2203	4300	6503	SO:0001819	synonymous_variant	439996						binding	g.chr10:91144286T>C		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1216T>C	10.37:g.91144286T>C			Somatic				LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	p.L406L	NM_001010987	NP_001010987	WXS	Illumina GAIIx	Phase_I	Q5T764	IFT1B_HUMAN			1	1296	+			406					A7E245	Silent	SNP	ENST00000371809.3	37	c.1216T>C	CCDS31242.1																																																																																				0.363	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		36	66	0	0	0	1	0	36	66					C	91144286	T	C	91144286	2	2	70	1	0	0	0	0	0	0	0	1	7522	1838	64	3		3	IFIT1B	10	91144286	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		91144286	44390461	8	1301											
SLCO1A2	6579	broad.mit.edu	37	12	21467494	21467494	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr12:21467494G>C	ENST00000307378.6	-	5	1044	c.324C>G	c.(322-324)ttC>ttG	p.F108L	SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F106L|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F108L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	108					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	GGTTCATGAGGAAATGAGGTA	0.398																																						uc001res.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(322-324)ttC>ttG		Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 1, mRNA.							155	141	146					12																	21467494		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21467494G>C		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.324C>G	12.37:g.21467494G>C	ENSP00000305974:p.Phe108Leu		Somatic				SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc010sio.2_Intron|SLCO1A2_uc001rer.3_Missense_Mutation_p.F108L|SLCO1A2_uc010sip.2_Intron|SLCO1A2_uc001ret.3_Missense_Mutation_p.F106L|SLCO1A2_uc001reu.2_Missense_Mutation_p.F88L	p.F108L	NM_134431	NP_602307	WXS	Illumina GAIIx	Phase_I	P46721	SO1A2_HUMAN			4	1045	-			108					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.324C>G	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889813	0.72524	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.32	0.355	0.16069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.87617	2.895	0.38331	D	0.943794	P;P;D	0.64830	0.955;0.944;0.994	P;P;D	0.71870	0.657;0.526;0.975	T	0.70396	-0.4883	10	0.66056	D	0.02	.	10.2403	0.43308	0.4831:0.0:0.5169:0.0	.	88;106;108	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	L	108;108;106;108;108	ENSP00000305974:F108L;ENSP00000393973:F108L;ENSP00000375088:F106L;ENSP00000416190:F108L;ENSP00000409314:F108L	ENSP00000305974:F108L	F	-	3	2	SLCO1A2	21358761	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	0.718000	0.25866	-0.090000	0.12462	0.655000	0.94253	TTC		0.398	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		3	85	0	0	0	1	0	3	85					C	21467494	G	C	21467494	3	2	70	1	0	0	0	0	1	0	0	0	14722	1165	41	4	1736	4	SLCO1A2	12	21467494	Missense_Mutation	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		21467494	112384401	9	1302											
C12orf48	55010	broad.mit.edu	37	12	102559570	102559570	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr12:102559570G>A	ENST00000358383.5	+	6	775	c.730G>A	c.(730-732)Gat>Aat	p.D244N	PARPBP_ENST00000327680.2_Missense_Mutation_p.D163N|PARPBP_ENST00000378128.3_Missense_Mutation_p.D244N|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.D321N|PARPBP_ENST00000392911.2_Missense_Mutation_p.D163N|PARPBP_ENST00000543784.1_Missense_Mutation_p.D130N			Q9NWS1	PARI_HUMAN	PARP1 binding protein	244					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						ACCACCATCAGATCCTTTAAG	0.363																																						uc010swa.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(961-963)Gat>Aat		Homo sapiens PARP1 binding protein (PARPBP), mRNA.							131	131	131					12																	102559570		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102559570G>A	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.730G>A	12.37:g.102559570G>A	ENSP00000351153:p.Asp244Asn		Somatic				PARPBP_uc001tjf.3_Missense_Mutation_p.D244N|PARPBP_uc001tjg.3_Missense_Mutation_p.D163N|PARPBP_uc001tjh.3_Missense_Mutation_p.D163N|PARPBP_uc010swb.2_Missense_Mutation_p.D130N|PARPBP_uc009zuc.3_Intron|PARPBP_uc001tjj.3_5'UTR|PARPBP_uc001tjk.3_Missense_Mutation_p.D244N|PARPBP_uc009zud.3_Missense_Mutation_p.D244N	p.D321N	NM_017915	NP_060385	WXS	Illumina GAIIx	Phase_I	Q9NWS1	PR1BP_HUMAN			6	1073	+			244					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.961G>A	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934873	0.73442	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	6.08	5.19	0.71726	.	0.129506	0.64402	N	0.000001	T	0.58308	0.2113	L	0.50333	1.59	0.52501	D	0.999953	D;P;B;D;B	0.89917	0.998;0.617;0.36;1.0;0.36	D;B;B;D;B	0.77004	0.958;0.403;0.181;0.989;0.181	T	0.57177	-0.7856	10	0.40728	T	0.16	-11.7195	15.2802	0.73778	0.0669:0.0:0.9331:0.0	.	130;321;244;244;244	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1	.;.;.;.;PR1BP_HUMAN	N	244;163;321;130;244;163;211;211	ENSP00000367368:D244N;ENSP00000332915:D163N;ENSP00000440850:D321N;ENSP00000444576:D130N;ENSP00000351153:D244N;ENSP00000376643:D163N;ENSP00000411313:D211N;ENSP00000393867:D211N	ENSP00000332915:D163N	D	+	1	0	C12orf48	101083700	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.750000	0.68712	1.575000	0.49775	0.591000	0.81541	GAT		0.363	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		7	126	0	0	0	1	0	7	126					A	102559570	G	A	102559570	3	1	70	1	0	0	0	0	1	0	0	0	1692	942	33	2	501	2	C12orf48	12	102559570	Missense_Mutation	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08	81092076	102559570	31292325	10	1303											
SMG1	23049	broad.mit.edu	37	16	18860687	18860687	+	Silent	SNP	T	T	C	rs376900887		TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr16:18860687T>C	ENST00000446231.2	-	36	5887	c.5475A>G	c.(5473-5475)caA>caG	p.Q1825Q	SMG1_ENST00000389467.3_Silent_p.Q1825Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1825	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGAGAAAAGTTGCGGAATAA	0.388																																						uc002dfm.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(5473-5475)caA>caG		Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.		T		0,3744		0,0,1872	99	93	95		5475	0.4	1.0	16		95	1,8213		0,1,4106	no	coding-synonymous	SMG1	NM_015092.4		0,1,5978	CC,CT,TT		0.0122,0.0,0.0084		1825/3662	18860687	1,11957	1872	4107	5979	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18860687T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5475A>G	16.37:g.18860687T>C			Somatic				SMG1_uc010bwb.3_Silent_p.Q1685Q|SMG1_uc010bwa.3_Silent_p.Q556Q|SMG1_uc021ted.1_Silent_p.Q123Q	p.Q1825Q	NM_015092	NP_055907	WXS	Illumina GAIIx	Phase_I	Q96Q15	SMG1_HUMAN			35	5838	-			1825			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.5475A>G	CCDS45430.1																																																																																				0.388	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	70	0	0	0	1	0	7	70					C	18860687	T	C	18860687	2	2	70	1	0	0	0	0	0	0	0	1	14795	1722	60	3		3	SMG1	16	18860687	Silent	SNP	T	TCGA-DJ-A1QF-01A-12D-A14W-08		18860687	71494066	11	1304											
PKD1L2	114780	broad.mit.edu	37	16	81157274	81157274	+	RNA	SNP	G	G	A			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr16:81157274G>A	ENST00000534142.1	-	0	853				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_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						CTGGTCTCTAGCGTCAGCGTG	0.597																																						uc002fgh.1																			0				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						c.(6460-6462)Cta>Tta		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							114	114	114					16																	81157274		2038	4195	6233			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81157274G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81157274G>A			Somatic				PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	p.L2154L	NM_052892	NP_443124	WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			38	6460	-			2156					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37	c.6460C>T																																																																																					0.597	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			4	94	0	0	0	1	0	4	94					A	81157274	G	A	81157274	1	1	70	0	1	0	0	0	0	0	0	0	11965	962	34	2		2	PKD1L2	16	81157274	RNA	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08	62296587	81157274	9197479	12	1305											
WDR45L	56270	broad.mit.edu	37	17	80579584	80579584	+	Silent	SNP	G	G	A			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr17:80579584G>A	ENST00000392325.4	-	6	713	c.519C>T	c.(517-519)agC>agT	p.S173S	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	173																	GCTTCTCCGTGCTGGCCAGGT	0.582																																						uc002kfq.3																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	12						c.(517-519)agC>agT		Homo sapiens WDR45-like (WDR45L), mRNA.							85	67	73					17																	80579584		2203	4300	6503	SO:0001819	synonymous_variant	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80579584G>A	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"WD repeat domain containing"	25072	protein-coding gene	gene with protein product		609226	"WDR45-like"	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.519C>T	17.37:g.80579584G>A			Somatic				WDR45L_uc002kfr.3_Non-coding_Transcript	p.S173S	NM_019613	NP_062559	WXS	Illumina GAIIx	Phase_I	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		5	714	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	173					O95328|Q2MCP6|Q6IBN2	Silent	SNP	ENST00000392325.4	37	c.519C>T	CCDS11815.2																																																																																				0.582	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		7	35	0	0	0	1	0	7	35					A	80579584	G	A	80579584	2	1	70	1	0	0	0	0	0	0	0	1	17295	1310	46	2		2	WDR45L	17	80579584	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		80579584	615626	13	1306											
GALNT1	2589	broad.mit.edu	37	18	33271056	33271056	+	Silent	SNP	G	G	A			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr18:33271056G>A	ENST00000269195.5	+	7	1162	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	GALNT1_ENST00000537549.1_Silent_p.T293T	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	353					cellular protein metabolic process (GO:0044267)|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 region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T353T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CACCTTACACGTTTCCAGGAG	0.403																																						uc010dmu.3																			1	Substitution - coding silent(1)	p.T353T(2)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(1057-1059)acG>acA		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.							175	170	172					18																	33271056		2203	4299	6502	SO:0001819	synonymous_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33271056G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1059G>A	18.37:g.33271056G>A			Somatic				GALNT1_uc002kyz.4_Silent_p.T293T|GALNT1_uc002kzb.3_Silent_p.T353T	p.T353T	NM_020474	NP_065207	WXS	Illumina GAIIx	Phase_I	Q10472	GALT1_HUMAN			7	1112	+			353					Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.1059G>A	CCDS11915.1																																																																																				0.403	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		9	158	0	0	0	1	0	9	158					A	33271056	G	A	33271056	2	1	70	1	0	0	0	0	0	0	0	1	6207	1132	40	1		1	GALNT1	18	33271056	Silent	SNP	G	TCGA-DJ-A1QF-01A-12D-A14W-08		33271056	44806192	14	1307											
MUC16	94025	broad.mit.edu	37	19	9074483	9074483	+	Silent	SNP	A	A	G			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chr19:9074483A>G	ENST00000397910.4	-	3	13166	c.12963T>C	c.(12961-12963)gcT>gcC	p.A4321A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4323	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						TTGTCTCTGTAGCAGAGCTGG	0.502																																						uc002mkp.3																			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.(12961-12963)gcT>gcC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							99	99	99					19																	9074483		2108	4221	6329	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074483A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12963T>C	19.37:g.9074483A>G			Somatic					p.A4321A	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	13167	-			4323			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12963T>C	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	20	0	0	0	1	0	14	20					G	9074483	A	G	9074483	2	3	70	1	0	0	0	0	0	0	0	1	9973	407	15	3		3	MUC16	19	9074483	Silent	SNP	A	TCGA-DJ-A1QF-01A-12D-A14W-08		9074483	50054500	15	1308											
AFF2	2334	broad.mit.edu	37	X	148044403	148044403	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QF-01A-12D-A14W-08	TCGA-DJ-A1QF-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21fe815-1958-4e1f-ad92-ae5c83303c82	6c5b9e0f-d833-440a-89ff-a5fb5f8b7579	g.chrX:148044403C>T	ENST00000370460.2	+	13	3328	c.2849C>T	c.(2848-2850)aCa>aTa	p.T950I	AFF2_ENST00000286437.5_Missense_Mutation_p.T591I|AFF2_ENST00000370457.5_Missense_Mutation_p.T917I|AFF2_ENST00000342251.3_Missense_Mutation_p.T917I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	950					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGACAAATCACATCTACCAAA	0.433																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2848-2850)aCa>aTa		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							107	92	97					X																	148044403		2203	4300	6503	SO:0001583	missense	2334				RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148044403C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2849C>T	X.37:g.148044403C>T	ENSP00000359489:p.Thr950Ile		Somatic				AFF2_uc004fcq.3_Missense_Mutation_p.T940I|AFF2_uc004fcr.3_Missense_Mutation_p.T911I|AFF2_uc011mxb.2_Missense_Mutation_p.T915I|AFF2_uc004fcs.3_Missense_Mutation_p.T917I|AFF2_uc011mxc.2_Missense_Mutation_p.T591I	p.T950I	NM_002025	NP_002016	WXS	Illumina GAIIx	Phase_I	P51816	AFF2_HUMAN			12	3328	+	Acute lymphoblastic leukemia(192;6.56e-05)		950					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2849C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963430	0.34659	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.78	3.0	0.34707	.	0.699047	0.14048	N	0.344921	T	0.48857	0.1523	L	0.47716	1.5	0.31331	N	0.684775	B;B;B;B;B;B	0.17667	0.023;0.004;0.004;0.004;0.019;0.023	B;B;B;B;B;B	0.17433	0.012;0.011;0.011;0.011;0.011;0.018	T	0.48399	-0.9039	10	0.33940	T	0.23	.	2.9128	0.05743	0.1478:0.554:0.1401:0.1581	.	591;915;917;911;940;950	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	950;917;917;591	ENSP00000359489:T950I;ENSP00000359486:T917I;ENSP00000345459:T917I;ENSP00000286437:T591I	ENSP00000286437:T591I	T	+	2	0	AFF2	147852099	0.978000	0.34361	0.621000	0.29145	0.137000	0.21094	0.905000	0.28504	0.665000	0.31066	0.600000	0.82982	ACA		0.433	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		6	52	0	0	0	1	0	6	52					T	148044403	C	T	148044403	3	4	70	1	0	0	0	0	1	0	0	0	357	478	17	2	2954	2	AFF2	23	148044403	Missense_Mutation	SNP	C	TCGA-DJ-A1QF-01A-12D-A14W-08		148044403	7226157	16	1309											
PPCS	79717	broad.mit.edu	37	1	42925432	42925432	+	Silent	SNP	T	T	C			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:42925432T>C	ENST00000372561.3	+	3	778	c.771T>C	c.(769-771)gcT>gcC	p.A257A	PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000372562.1_Silent_p.A84A|PPCS_ENST00000455780.1_Silent_p.A84A|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	257					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGTGGTGGCTAATATCCTTG	0.398																																						uc001chl.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(769-771)gcT>gcC		Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA.							127	120	122					1																	42925432		1873	4111	5984	SO:0001819	synonymous_variant	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42925432T>C	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.771T>C	1.37:g.42925432T>C			Somatic				PPCS_uc001chk.3_Silent_p.A84A	p.A257A	NM_024664	NP_078940	WXS	Illumina GAIIx	Phase_I	Q9HAB8	PPCS_HUMAN			2	835	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	257					Q3KQT2|Q5VVM0	Silent	SNP	ENST00000372561.3	37	c.771T>C	CCDS41311.1																																																																																				0.398	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		3	137	0	0	0	1	0	3	137					C	42925432	T	C	42925432	2	2	71	1	0	0	0	0	0	0	0	1	12305	1509	53	3		3	PPCS	1	42925432	Silent	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08		42925432	206325189	1	1310											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	106	0	0	0	1	0	55	106					C	115256529	T	C	115256529	3	2	71	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08	72331097	115256529	133994092	2	1311											
ITGA10	8515	broad.mit.edu	37	1	145534935	145534935	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:145534935G>A	ENST00000369304.3	+	15	2013	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R613Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTTGGCCGAAGTGTGGAT	0.577																																						uc001eoa.3																			1	Substitution - Missense(1)	p.R613Q(2)|p.G612S(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1837-1839)cGa>cAa		Homo sapiens integrin, alpha 10 (ITGA10), mRNA.							181	151	161					1																	145534935		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534935G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1838G>A	1.37:g.145534935G>A	ENSP00000358310:p.Arg613Gln		Somatic				ITGA10_uc010oyv.2_Missense_Mutation_p.R482Q|ITGA10_uc009wiw.3_Missense_Mutation_p.R470Q|ITGA10_uc010oyw.2_Missense_Mutation_p.R558Q	p.R613Q	NM_003637	NP_003628	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1914	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		613					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1838G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916809	0.52546	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55588	0.51;0.51;0.51	5.07	4.15	0.48705	.	0.085098	0.45361	D	0.000373	T	0.18467	0.0443	N	0.13140	0.3	0.58432	D	0.999999	B;B;D;B	0.54047	0.421;0.132;0.964;0.072	B;B;P;B	0.44623	0.126;0.043;0.455;0.027	T	0.05920	-1.0856	10	0.07482	T	0.82	.	10.8941	0.47012	0.0923:0.0:0.9077:0.0	.	579;482;470;613	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	613;579;470;482	ENSP00000358310:R613Q;ENSP00000439894:R470Q;ENSP00000440011:R482Q	ENSP00000358310:R613Q	R	+	2	0	ITGA10	144246292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.542000	0.85734	0.609000	0.83330	CGA		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		33	73	0	0	0	1	0	33	73					A	145534935	G	A	145534935	3	1	71	1	0	0	0	0	1	0	0	0	7873	1058	37	1	1896	1	ITGA10	1	145534935	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	30278406	145534935	103715686	3	1312											
FLG2	388698	broad.mit.edu	37	1	152328852	152328852	+	Silent	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:152328852C>T	ENST00000388718.5	-	3	1482	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	470	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCTAGACCCATGCTGGT	0.522																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1408-1410)ggG>ggA		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							195	190	191					1																	152328852		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328852C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1410G>A	1.37:g.152328852C>T			Somatic				AK056431_uc001ezv.3_Intron	p.G470G	NM_001014342	NP_001014364	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1483	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		470			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.1410G>A	CCDS30861.1																																																																																				0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		6	145	0	0	0	1	0	6	145					T	152328852	C	T	152328852	2	4	71	1	0	0	0	0	0	0	0	1	5923	494	18	2		2	FLG2	1	152328852	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	6793917	152328852	96921769	4	1313											
C1orf112	55732	broad.mit.edu	37	1	169811624	169811624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:169811624C>T	ENST00000286031.6	+	18	2492	c.1792C>T	c.(1792-1794)Caa>Taa	p.Q598*	C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q598*|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	598										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACAGGAAAACAAACTGCAAT	0.368																																						uc001ggp.3																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1792-1794)Caa>Taa		Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.							155	146	149					1																	169811624		2203	4300	6503	SO:0001587	stop_gained	55732							g.chr1:169811624C>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1792C>T	1.37:g.169811624C>T	ENSP00000286031:p.Gln598*		Somatic				C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggq.3_Nonsense_Mutation_p.Q598*|C1orf112_uc009wvt.3_Nonsense_Mutation_p.Q275*|C1orf112_uc009wvu.1_Nonsense_Mutation_p.Q474*|C1orf112_uc001ggr.3_Nonsense_Mutation_p.Q463*|C1orf112_uc010plv.2_Nonsense_Mutation_p.Q540*	p.Q598*	NM_018186	NP_060656	WXS	Illumina GAIIx	Phase_I	Q9NSG2	CA112_HUMAN			18	2102	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		598					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Nonsense_Mutation	SNP	ENST00000286031.6	37	c.1792C>T	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	44	10.545720	0.99425	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	.	.	.	5.18	5.18	0.71444	.	0.292643	0.38720	N	0.001595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8983	15.8076	0.78527	0.0:1.0:0.0:0.0	.	.	.	.	X	598	.	ENSP00000286031:Q598X	Q	+	1	0	C1orf112	168078248	0.175000	0.23083	0.686000	0.30086	0.748000	0.42578	2.225000	0.42954	2.572000	0.86782	0.655000	0.94253	CAA		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		26	59	0	0	0	1	0	26	59					T	169811624	C	T	169811624	4	4	71	1	0	0	0	0	0	1	0	0	1985	479	17	2	1854	2	C1orf112	1	169811624	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	17482772	169811624	79438997	5	1314											
OR6F1	343169	broad.mit.edu	37	1	247875916	247875916	+	Silent	SNP	A	A	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr1:247875916A>G	ENST00000302084.2	-	1	189	c.142T>C	c.(142-144)Ttg>Ctg	p.L48L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	48						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(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGCTCACCAACATCAAGATA	0.473																																						uc001idj.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(142-144)Ttg>Ctg		Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.							140	136	137					1																	247875916		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875916A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.142T>C	1.37:g.247875916A>G			Somatic					p.L48L	NM_001005286	NP_001005286	WXS	Illumina GAIIx	Phase_I	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	142	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		48					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.142T>C	CCDS31095.1																																																																																				0.473	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		9	113	0	0	0	1	0	9	113					G	247875916	A	G	247875916	2	3	71	1	0	0	0	0	0	0	0	1	11201	40	2	3		3	OR6F1	1	247875916	Silent	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08	78064292	247875916	1374705	6	1315											
PLCD4	84812	broad.mit.edu	37	2	219501103	219501103	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr2:219501103T>A	ENST00000450993.2	+	15	2509	c.2170T>A	c.(2170-2172)Tgc>Agc	p.C724S	RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000417849.1_Missense_Mutation_p.C724S|PLCD4_ENST00000432688.1_Missense_Mutation_p.C756S	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	724					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)		GCCTTGGACCTGCATGCAACA	0.552																																						uc021vwx.1																			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.(2170-2172)Tgc>Agc		Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.							206	208	208					2																	219501103		2065	4194	6259	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.chr2:219501103T>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2170T>A	2.37:g.219501103T>A	ENSP00000388631:p.Cys724Ser		Somatic					p.C724S	NM_032726	NP_116115	WXS	Illumina GAIIx	Phase_I	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)	14	2509	+		Renal(207;0.0915)	724					Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.2170T>A	CCDS46516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.359|5.359	0.251456|0.251456	0.10130|0.10130	.|.	.|.	ENSG00000115556|ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688|ENST00000457773	T;T;T|.	0.12039|.	2.72;2.72;2.72|.	5.17|5.17	5.17|5.17	0.71159|0.71159	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.046381|.	0.85682|.	D|.	0.000000|.	T|T	0.40909|0.40909	0.1136|0.1136	N|N	0.17764|0.17764	0.52|0.52	0.46336|0.46336	D|D	0.998991|0.998991	P|.	0.38048|.	0.616|.	B|.	0.31245|.	0.126|.	T|T	0.27123|0.27123	-1.0083|-1.0083	10|5	0.02654|.	T|.	1|.	.|.	8.6527|8.6527	0.34044|0.34044	0.29:0.0:0.0:0.71|0.29:0.0:0.0:0.71	.|.	724|.	Q9BRC7|.	PLCD4_HUMAN|.	S|Q	724;724;756|72	ENSP00000388631:C724S;ENSP00000396942:C724S;ENSP00000396185:C756S|.	ENSP00000396942:C724S|.	C|L	+|+	1|2	0|0	PLCD4|PLCD4	219209347|219209347	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.968000|0.968000	0.65278|0.65278	2.949000|2.949000	0.49074|0.49074	2.175000|2.175000	0.68902|0.68902	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.552	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			4	267	0	0	0	1	0	4	267					A	219501103	T	A	219501103	3	1	71	1	0	0	0	0	1	0	0	0	12033	1580	55	5	2224	5	PLCD4	2	219501103	Missense_Mutation	SNP	T	TCGA-DJ-A1QG-01A-11D-A14W-08		219501103	23698270	7	1316											
DMP1	1758	broad.mit.edu	37	4	88584444	88584444	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr4:88584444A>T	ENST00000339673.6	+	6	1613	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V	RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D489V	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	505					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GGGGACCAAGATGACAATGAC	0.413																																						uc003hqv.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(1513-1515)gAt>gTt		Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.							153	151	152					4																	88584444		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584444A>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1514A>T	4.37:g.88584444A>T	ENSP00000340935:p.Asp505Val		Somatic				DMP1_uc003hqw.3_Missense_Mutation_p.D489V	p.D505V	NM_004407	NP_004398	WXS	Illumina GAIIx	Phase_I	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	5	1618	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	505					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1514A>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175942	0.38413	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60040	0.22;0.22	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000013	T	0.71945	0.3400	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74487	-0.3649	10	0.87932	D	0	-21.1106	14.5734	0.68229	1.0:0.0:0.0:0.0	.	489;505	Q13316-2;Q13316	.;DMP1_HUMAN	V	505;489	ENSP00000340935:D505V;ENSP00000282479:D489V	ENSP00000282479:D489V	D	+	2	0	DMP1	88803468	1.000000	0.71417	0.995000	0.50966	0.311000	0.27955	5.942000	0.70203	2.264000	0.75181	0.533000	0.62120	GAT		0.413	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			56	88	0	0	0	1	0	56	88					T	88584444	A	T	88584444	3	4	71	1	0	0	0	0	1	0	0	0	4583	333	12	5	1532	5	DMP1	4	88584444	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08		88584444	102569832	8	1317											
HIST1H4J	8363	broad.mit.edu	37	6	27791912	27791912	+	Missense_Mutation	SNP	C	C	G	rs374472052		TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:27791912C>G	ENST00000355057.1	+	1	29	c.10C>G	c.(10-12)Cgc>Ggc	p.R4G		NM_021968.3	NP_068803.1	P62805	H4_HUMAN	histone cluster 1, H4j	4					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(1)|pancreas(1)	4						CATGTCTGGCCGCGGCAAAGG	0.612																																						uc003njp.3																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(10-12)Cgc>Ggc		Homo sapiens histone cluster 1, H4j (HIST1H4J), mRNA.							16	22	20					6																	27791912		1922	4152	6074	SO:0001583	missense	8363				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27791912C>G	J00188	CCDS4630.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197238	ENSG00000197238		"Histones / Replication-dependent"	4785	protein-coding gene	gene with protein product		602826	"H4 histone family, member E", "histone 1, H4j"	H4FE		6265100, 9439656, 12408966	Standard	NM_021968		Approved	H4/e, H4F2iv	uc003njp.3	P62805	OTTHUMG00000014487	ENST00000355057.1:c.10C>G	6.37:g.27791912C>G	ENSP00000347168:p.Arg4Gly		Somatic				FKSG63_uc003njq.2_5'Flank	p.R4G	NM_021968	NP_778224	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			0	10	+			4					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000355057.1	37	c.10C>G	CCDS4630.1	.	.	.	.	.	.	.	.	.	.	.	8.603	0.887222	0.17540	.	.	ENSG00000197238	ENST00000355057	.	.	.	3.77	2.86	0.33363	.	0.000000	0.64402	U	0.000002	T	0.45236	0.1332	.	.	.	0.32799	N	0.500158	.	.	.	.	.	.	T	0.49799	-0.8901	6	0.72032	D	0.01	.	10.2177	0.43179	0.3537:0.6463:0.0:0.0	.	.	.	.	G	4	.	ENSP00000347168:R4G	R	+	1	0	HIST1H4J	27899891	0.007000	0.16637	0.223000	0.23860	0.370000	0.29829	0.100000	0.15231	0.820000	0.34516	0.484000	0.47621	CGC		0.612	HIST1H4J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040155.1	NM_021968		10	24	0	0	0	1	0	10	24					G	27791912	C	G	27791912	3	3	71	1	0	0	0	0	1	0	0	0	7174	652	23	4	12	4	HIST1H4J	6	27791912	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		27791912	143323155	9	1318											
C6orf211	79624	broad.mit.edu	37	6	151779565	151779565	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:151779565G>C	ENST00000367294.3	+	3	509	c.250G>C	c.(250-252)Gat>Cat	p.D84H	C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_5'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	84										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)		GAAATTTGTTGATACTGATAT	0.363																																						uc003qok.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(250-252)Gat>Cat		Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.							97	99	98					6																	151779565		2203	4299	6502	SO:0001583	missense	79624						protein binding	g.chr6:151779565G>C	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.250G>C	6.37:g.151779565G>C	ENSP00000356263:p.Asp84His		Somatic				C6orf211_uc011ees.1_5'UTR	p.D84H	NM_024573	NP_078849	WXS	Illumina GAIIx	Phase_I	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	2	509	+			84					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.250G>C	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881373	0.51801	.	.	ENSG00000146476	ENST00000367294	T	0.07444	3.19	5.69	5.69	0.88448	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31861	-0.9928	10	0.87932	D	0	.	19.8155	0.96566	0.0:0.0:1.0:0.0	.	84	Q9H993	CF211_HUMAN	H	84	ENSP00000356263:D84H	ENSP00000356263:D84H	D	+	1	0	C6orf211	151821258	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	9.869000	0.99810	2.691000	0.91804	0.563000	0.77884	GAT		0.363	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		29	50	0	0	0	1	0	29	50					C	151779565	G	C	151779565	3	2	71	1	0	0	0	0	1	0	0	0	2354	1290	45	4	260	4	C6orf211	6	151779565	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	123987653	151779565	19335502	10	1319											
THBS2	7058	broad.mit.edu	37	6	169637364	169637364	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr6:169637364G>A	ENST00000366787.3	-	10	1627	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	460	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		AGACGGATGCGTGTGATATTG	0.607																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.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.(1378-1380)Cgc>Tgc		Homo sapiens thrombospondin 2 (THBS2), mRNA.							69	66	67					6																	169637364		2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637364G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1378C>T	6.37:g.169637364G>A	ENSP00000355751:p.Arg460Cys		Somatic					p.R460C	NM_003247	NP_003238	WXS	Illumina GAIIx	Phase_I	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)	9	1626	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	460			TSP type-1 2.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1378C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.464989	0.43839	.	.	ENSG00000186340	ENST00000366787	T	0.80909	-1.43	4.07	3.16	0.36331	.	0.000000	0.41194	U	0.000936	D	0.92172	0.7518	H	0.98996	4.395	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.94092	0.7354	10	0.87932	D	0	-48.1646	12.9305	0.58284	0.0:0.0:0.8362:0.1638	.	460	P35442	TSP2_HUMAN	C	460	ENSP00000355751:R460C	ENSP00000355751:R460C	R	-	1	0	THBS2	169379289	1.000000	0.71417	0.200000	0.23457	0.143000	0.21401	4.798000	0.62510	0.773000	0.33404	0.558000	0.71614	CGC		0.607	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		23	25	0	0	0	1	0	23	25					A	169637364	G	A	169637364	3	1	71	1	0	0	0	0	1	0	0	0	15851	1145	40	1	2196	1	THBS2	6	169637364	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	17857799	169637364	1477703	11	1320											
TMEM38B	55151	broad.mit.edu	37	9	108483839	108483839	+	Silent	SNP	G	G	A	rs141978983		TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr9:108483839G>A	ENST00000374692.3	+	3	408	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM38B_ENST00000374688.1_Silent_p.P43P	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	97						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTTTTGCCCGCATGACCTAG	0.353																																						uc004bcu.1																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(289-291)ccG>ccA		Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.		G		0,4404		0,0,2202	78	72	74		291	-5.9	0.0	9	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM38B	NM_018112.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		97/292	108483839	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108483839G>A	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"chromosome 9 open reading frame 87"	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.291G>A	9.37:g.108483839G>A			Somatic				TMEM38B_uc010mtn.1_Intron	p.P97P	NM_018112	NP_060582	WXS	Illumina GAIIx	Phase_I	Q9NVV0	TM38B_HUMAN			2	408	+			97					Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	c.291G>A	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.352536	0.01256	0.0	1.16E-4	ENSG00000095209	ENST00000435034	.	.	.	5.74	-5.94	0.02247	.	.	.	.	.	T	0.34890	0.0913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36915	-0.9728	4	.	.	.	-14.4034	0.9743	0.01423	0.2911:0.107:0.187:0.415	.	.	.	.	H	34	.	.	R	+	2	0	TMEM38B	107523660	0.003000	0.15002	0.002000	0.10522	0.015000	0.08874	0.084000	0.14891	-1.309000	0.02315	-1.311000	0.01308	CGC		0.353	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		3	38	0	0	0	1	0	3	38					A	108483839	G	A	108483839	2	1	71	1	0	0	0	0	0	0	0	1	16157	1074	38	1		1	TMEM38B	9	108483839	Silent	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08		108483839	32729592	12	1321											
MS4A12	54860	broad.mit.edu	37	11	60274284	60274284	+	Silent	SNP	C	C	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:60274284C>G	ENST00000016913.4	+	6	729	c.672C>G	c.(670-672)gcC>gcG	p.A224A	MS4A12_ENST00000537076.1_Silent_p.A178A	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	224						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CCCATTTTGCCAACCAAGCAA	0.418																																						uc001npr.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(670-672)gcC>gcG		Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.							111	98	102					11																	60274284		2203	4300	6503	SO:0001819	synonymous_variant	54860					integral to membrane	receptor activity	g.chr11:60274284C>G	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.672C>G	11.37:g.60274284C>G			Somatic				MS4A12_uc021qkb.1_Silent_p.A178A	p.A224A	NM_017716	NP_060186	WXS	Illumina GAIIx	Phase_I	Q9NXJ0	M4A12_HUMAN			5	729	+			224					F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	37	c.672C>G	CCDS7988.1																																																																																				0.418	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			11	39	0	0	0	1	0	11	39					G	60274284	C	G	60274284	2	3	71	1	0	0	0	0	0	0	0	1	9856	581	21	4		4	MS4A12	11	60274284	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		60274284	74732232	13	1322											
HTR3A	3359	broad.mit.edu	37	11	113853948	113853948	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr11:113853948A>G	ENST00000504030.2	+	5	926	c.481A>G	c.(481-483)Atc>Gtc	p.I161V	HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Missense_Mutation_p.I146V|HTR3A_ENST00000375498.2_Missense_Mutation_p.I167V|HTR3A_ENST00000506841.2_Missense_Mutation_p.I161V|HTR3A_ENST00000355556.2_Missense_Mutation_p.I167V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	161					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TAGCCTCGACATCTACAACTT	0.547																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(499-501)Atc>Gtc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						210	191	197					11																	113853948		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113853948A>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.481A>G	11.37:g.113853948A>G	ENSP00000424189:p.Ile161Val		Somatic				HTR3A_uc010rxa.2_Missense_Mutation_p.I167V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.I146V	p.I167V	NM_213621	NP_998786	WXS	Illumina GAIIx	Phase_I	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	4	732	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	161					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.499A>G		.	.	.	.	.	.	.	.	.	.	A	20.5	4.003616	0.74932	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.39	5.39	0.77823	.	0.048867	0.85682	D	0.000000	T	0.67979	0.2951	N	0.20483	0.58	0.80722	D	1	P;P;P	0.50617	0.937;0.712;0.937	P;B;P	0.49276	0.605;0.279;0.605	T	0.67039	-0.5771	10	0.02654	T	1	-34.4885	15.4143	0.74952	1.0:0.0:0.0:0.0	.	146;167;167	B4DSY6;G5E986;Q7KZM7	.;.;.	V	161;167;167;161;146	ENSP00000424189:I161V;ENSP00000347754:I167V;ENSP00000364648:I167V;ENSP00000424776:I161V;ENSP00000299961:I146V	ENSP00000299961:I146V	I	+	1	0	HTR3A	113359158	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.283000	0.95860	2.048000	0.60808	0.454000	0.30748	ATC		0.547	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		9	142	0	0	0	1	0	9	142					G	113853948	A	G	113853948	3	3	71	1	0	0	0	0	1	0	0	0	7444	217	8	3	543	3	HTR3A	11	113853948	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08	53579664	113853948	21152568	14	1323											
INHBC	3626	broad.mit.edu	37	12	57843479	57843479	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57843479A>G	ENST00000309668.2	+	2	860	c.733A>G	c.(733-735)Agg>Ggg	p.R245G		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	245					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						AGGAGGGTCCAGGATGTGCTG	0.577																																						uc001snv.1																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(733-735)Agg>Ggg		Homo sapiens inhibin, beta C (INHBC), mRNA.							105	93	97					12																	57843479		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843479A>G		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.733A>G	12.37:g.57843479A>G	ENSP00000308716:p.Arg245Gly		Somatic					p.R245G	NM_005538	NP_005529	WXS	Illumina GAIIx	Phase_I	P55103	INHBC_HUMAN			1	860	+			245					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.733A>G	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803721	0.31869	.	.	ENSG00000175189	ENST00000309668	T	0.62788	0.0	3.89	2.73	0.32206	Transforming growth factor-beta, C-terminal (2);	0.394214	0.25711	N	0.028812	T	0.44829	0.1312	L	0.34521	1.04	0.30222	N	0.796733	B	0.30563	0.285	B	0.31495	0.131	T	0.36866	-0.9730	9	.	.	.	-10.526	5.4758	0.16695	0.7258:0.1789:0.0953:0.0	.	245	P55103	INHBC_HUMAN	G	245	ENSP00000308716:R245G	.	R	+	1	2	INHBC	56129746	0.000000	0.05858	0.998000	0.56505	0.966000	0.64601	0.910000	0.28571	0.837000	0.34925	0.528000	0.53228	AGG		0.577	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		19	48	0	0	0	1	0	19	48					G	57843479	A	G	57843479	3	3	71	1	0	0	0	0	1	0	0	0	7743	179	7	3	739	3	INHBC	12	57843479	Missense_Mutation	SNP	A	TCGA-DJ-A1QG-01A-11D-A14W-08		57843479	76008416	15	1324											
MBD6	114785	broad.mit.edu	37	12	57919484	57919484	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr12:57919484C>T	ENST00000355673.3	+	6	1089	c.733C>T	c.(733-735)Cct>Tct	p.P245S	MBD6_ENST00000431731.2_Missense_Mutation_p.P245S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	245	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTGGGCTCTCCTCCGGCCCC	0.612																																						uc001soj.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(733-735)Cct>Tct		Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.							132	154	147					12																	57919484		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	DNA binding|chromatin binding	g.chr12:57919484C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.733C>T	12.37:g.57919484C>T	ENSP00000347896:p.Pro245Ser		Somatic				MBD6_uc001sok.1_Missense_Mutation_p.P112S|MBD6_uc001sol.1_5'Flank	p.P245S	NM_052897	NP_443129	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			5	957	+			245			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.733C>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361878	0.24684	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.1	1.15	0.20763	.	0.730153	0.10118	U	0.713727	T	0.20088	0.0483	N	0.08118	0	0.29836	N	0.829619	B;B	0.15141	0.012;0.012	B;B	0.15484	0.013;0.013	T	0.31364	-0.9946	8	.	.	.	-0.495	6.5172	0.22254	0.0:0.7361:0.0:0.2639	.	245;245	Q6P0P0;Q96DN6	.;MBD6_HUMAN	S	245	.	.	P	+	1	0	MBD6	56205751	0.863000	0.29885	0.987000	0.45799	0.842000	0.47809	0.455000	0.21843	0.290000	0.22444	0.444000	0.29173	CCT		0.612	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			4	226	0	0	0	1	0	4	226					T	57919484	C	T	57919484	3	4	71	1	0	0	0	0	1	0	0	0	9348	855	30	2	747	2	MBD6	12	57919484	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	76005	57919484	75932411	16	1325											
C16orf91	283951	broad.mit.edu	37	16	1470345	1470345	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:1470345C>T	ENST00000442039.2	-	2	377	c.301G>A	c.(301-303)Gcg>Acg	p.A101T	C16orf91_ENST00000563974.1_Missense_Mutation_p.A34T|C16orf91_ENST00000310355.1_Missense_Mutation_p.A258T	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	101						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CACTGGTCCGCCTCGCTCTCC	0.617																																						uc010uvd.2																			0		p.E257K(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(772-774)Gcg>Acg		Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.							109	112	111					16																	1470345		2199	4300	6499	SO:0001583	missense	283951					integral to membrane		g.chr16:1470345C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"cattle cerebrum and skeletal muscle-specific protein 1 family member"						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.301G>A	16.37:g.1470345C>T	ENSP00000413100:p.Ala101Thr		Somatic				C16orf91_uc002clr.3_Missense_Mutation_p.A101T	p.A258T	NM_001010878	NP_001010878	WXS	Illumina GAIIx	Phase_I	Q4G0I0	CSMT1_HUMAN			3	772	-			101					Q96RZ0	Missense_Mutation	SNP	ENST00000442039.2	37	c.772G>A		.	.	.	.	.	.	.	.	.	.	C	6.098	0.386317	0.11524	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	5.31	-10.6	0.00265	.	1.740200	0.03635	N	0.238596	T	0.23649	0.0572	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12837	-1.0532	8	0.44086	T	0.13	-0.1853	5.7385	0.18079	0.1804:0.5903:0.0909:0.1385	.	101	Q4G0I0	CSMT1_HUMAN	T	101;258	.	ENSP00000311390:A258T	A	-	1	0	C16orf91	1410346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.631000	0.00871	-2.359000	0.00611	-0.982000	0.02568	GCG		0.617	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878		41	73	0	0	0	1	0	41	73					T	1470345	C	T	1470345	3	4	71	1	0	0	0	0	1	0	0	0	1844	739	26	2	304	2	C16orf91	16	1470345	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		1470345	88884408	17	1326											
NOMO1	23420	broad.mit.edu	37	16	14958553	14958553	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:14958553G>T	ENST00000287667.7	+	13	1678	c.1507G>T	c.(1507-1509)Gca>Tca	p.A503S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	503						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ACAGTTCTTGGCATCAGTTTC	0.468																																						uc002dcv.3																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(1507-1509)Gca>Tca		Homo sapiens NODAL modulator 1 (NOMO1), mRNA.							182	177	179					16																	14958553		2194	4299	6493	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14958553G>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1507G>T	16.37:g.14958553G>T	ENSP00000287667:p.Ala503Ser		Somatic					p.A503S	NM_014287	NP_055102	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			12	1573	+			503					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.1507G>T	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	17.76	3.469630	0.63625	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.05258	3.47	3.21	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	M	0.77103	2.36	0.58432	D	0.999999	D	0.62365	0.991	P	0.58210	0.835	T	0.04723	-1.0931	10	0.27082	T	0.32	-16.4363	12.3445	0.55114	0.0:0.0:1.0:0.0	.	503	Q15155	NOMO1_HUMAN	S	503;503;336	ENSP00000287667:A503S	ENSP00000287667:A503S	A	+	1	0	NOMO1	14866054	1.000000	0.71417	0.799000	0.32177	0.923000	0.55619	6.538000	0.73852	1.780000	0.52325	0.392000	0.25879	GCA		0.468	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			63	151	0	0	0	1	0	63	151					T	14958553	G	T	14958553	3	4	71	1	0	0	0	0	1	0	0	0	10531	1203	42	4	1557	4	NOMO1	16	14958553	Missense_Mutation	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08	13488208	14958553	75396200	18	1327											
CDH11	1009	broad.mit.edu	37	16	65016141	65016141	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr16:65016141C>A	ENST00000268603.4	-	8	1678	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	CDH11_ENST00000566827.1_Missense_Mutation_p.D229Y|CDH11_ENST00000394156.3_Missense_Mutation_p.D355Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1063-1065)Gac>Tac		Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.							135	107	116					16																	65016141		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016141C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1063G>T	16.37:g.65016141C>A	ENSP00000268603:p.Asp355Tyr	TSP Lung(24;0.17)	Somatic				CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.D355Y|CDH11_uc010vin.2_Missense_Mutation_p.D229Y|CDH11_uc002eok.1_Non-coding_Transcript	p.D355Y	NM_001797	NP_001788	WXS	Illumina GAIIx	Phase_I	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1497	-		Ovarian(137;0.0973)	355			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1063G>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663470	0.88251	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.20200	2.09;2.09	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.981;0.997	T	0.70908	-0.4744	10	0.66056	D	0.02	.	18.9874	0.92777	0.0:1.0:0.0:0.0	.	355;355	P55287-2;P55287	.;CAD11_HUMAN	Y	355;355;338	ENSP00000268603:D355Y;ENSP00000377711:D355Y	ENSP00000268603:D355Y	D	-	1	0	CDH11	63573642	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.370000	0.79589	2.813000	0.96785	0.655000	0.94253	GAC		0.468	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		29	47	0	0	0	1	0	29	47					A	65016141	C	A	65016141	3	1	71	1	0	0	0	0	1	0	0	0	3097	884	31	4	1351	4	CDH11	16	65016141	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08	50057588	65016141	25338612	19	1328											
TMEM101	84336	broad.mit.edu	37	17	42090386	42090386	+	Silent	SNP	G	G	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr17:42090386G>T	ENST00000589334.1	-	4	771	c.456C>A	c.(454-456)ctC>ctA	p.L152L	TMEM101_ENST00000587529.1_Silent_p.L152L|TMEM101_ENST00000542039.1_Silent_p.L94L|TMEM101_ENST00000206380.3_Silent_p.L152L			Q96IK0	TM101_HUMAN	transmembrane protein 101	152					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACACAGATGAGGTAGATAC	0.597																																						uc002ieu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(454-456)ctC>ctA		Homo sapiens transmembrane protein 101 (TMEM101), mRNA.							89	55	66					17																	42090386		2203	4300	6503	SO:0001819	synonymous_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42090386G>T	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.456C>A	17.37:g.42090386G>T			Somatic				TMEM101_uc010wis.2_Silent_p.L94L	p.L152L	NM_032376	NP_115752	WXS	Illumina GAIIx	Phase_I	Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	481	-		Breast(137;0.0264)|Prostate(33;0.0861)	152					B2R9N6	Silent	SNP	ENST00000589334.1	37	c.456C>A	CCDS11474.1																																																																																				0.597	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		3	29	0	0	0	1	0	3	29					T	42090386	G	T	42090386	2	4	71	1	0	0	0	0	0	0	0	1	16013	1277	45	4		4	TMEM101	17	42090386	Silent	SNP	G	TCGA-DJ-A1QG-01A-11D-A14W-08		42090386	39104824	20	1329											
PTPN2	5771	broad.mit.edu	37	18	12817199	12817199	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr18:12817199C>A	ENST00000309660.5	-	6	754	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	PTPN2_ENST00000327283.3_Missense_Mutation_p.G221W|PTPN2_ENST00000591115.1_Missense_Mutation_p.G244W|PTPN2_ENST00000591497.1_Missense_Mutation_p.G192W|PTPN2_ENST00000353319.4_Missense_Mutation_p.G221W	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	221	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CCAGAGCGCCCAATGCCTGCA	0.423																																						uc002krp.3																			0		p.G221G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(661-663)Ggg>Tgg		Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.							98	102	101					18																	12817199		2203	4300	6503	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12817199C>A	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.661G>T	18.37:g.12817199C>A	ENSP00000311857:p.Gly221Trp		Somatic				PTPN2_uc002krn.3_Missense_Mutation_p.G244W|PTPN2_uc002krl.3_Missense_Mutation_p.G221W|PTPN2_uc002krm.3_Missense_Mutation_p.G221W	p.G221W	NM_002828	NP_002819	WXS	Illumina GAIIx	Phase_I	P17706	PTN2_HUMAN			5	855	-		Lung NSC(161;8.94e-06)	221			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.661G>T	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772177	0.90108	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.87729	-2.29;-2.29;-2.29	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.53938	D	0.000041	D	0.97105	0.9054	H	0.99863	4.86	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	0.99461	1.0943	10	0.87932	D	0	.	18.8968	0.92426	0.0:1.0:0.0:0.0	.	221;221;198;221;221	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	W	221;221;198;221	ENSP00000320298:G221W;ENSP00000320546:G221W;ENSP00000311857:G221W	ENSP00000311857:G221W	G	-	1	0	PTPN2	12807199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.744000	0.85034	2.447000	0.82792	0.591000	0.81541	GGG		0.423	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		4	115	0	0	0	1	0	4	115					A	12817199	C	A	12817199	3	1	71	1	0	0	0	0	1	0	0	0	12785	594	21	4	628	4	PTPN2	18	12817199	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		12817199	65260049	21	1330											
ICAM3	3385	broad.mit.edu	37	19	10449575	10449575	+	Silent	SNP	C	C	T			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr19:10449575C>T	ENST00000160262.5	-	2	334	c.126G>A	c.(124-126)gtG>gtA	p.V42V	ICAM3_ENST00000589261.1_5'UTR	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	42					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CAGCAGAGAGCACAGGGTTCT	0.552																																						uc002mob.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(124-126)gtG>gtA		Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.							63	65	65					19																	10449575		2203	4300	6503	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10449575C>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.126G>A	19.37:g.10449575C>T			Somatic				ICAM3_uc010dxd.1_5'UTR|ICAM3_uc010xlf.1_Intron	p.V42V	NM_002162	NP_002153	WXS	Illumina GAIIx	Phase_I	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		1	181	-			42					Q6PD68	Silent	SNP	ENST00000160262.5	37	c.126G>A	CCDS12235.1																																																																																				0.552	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			22	37	0	0	0	1	0	22	37					T	10449575	C	T	10449575	2	4	71	1	0	0	0	0	0	0	0	1	7481	697	25	2		2	ICAM3	19	10449575	Silent	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		10449575	48679408	22	1331											
CHEK2	11200	broad.mit.edu	37	22	29091784	29091784	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QG-01A-11D-A14W-08	TCGA-DJ-A1QG-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6423bb49-a2d1-4c64-9da3-21d387df5510	1de19931-dbc5-4464-9c0c-3cc08cbd4846	g.chr22:29091784C>A	ENST00000405598.1	-	12	1364	c.1173G>T	c.(1171-1173)ttG>ttT	p.L391F	CHEK2_ENST00000404276.1_Missense_Mutation_p.L391F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L300F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.L434F|CHEK2_ENST00000348295.3_Missense_Mutation_p.L362F|CHEK2_ENST00000544772.1_Missense_Mutation_p.L170F|CHEK2_ENST00000328354.6_Missense_Mutation_p.L391F|CHEK2_ENST00000402731.1_Missense_Mutation_p.L362F|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.L300F			O96017	CHK2_HUMAN	checkpoint kinase 2	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTTCAGGCGCCAAGTAGGTGG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adt.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1300-1302)ttG>ttT	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.							56	57	57					22																	29091784		2203	4300	6503	SO:0001583	missense	11200				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091784C>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1173G>T	22.37:g.29091784C>A	ENSP00000386087:p.Leu391Phe		Somatic				CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.L170F|CHEK2_uc010gvh.1_Missense_Mutation_p.L300F|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Missense_Mutation_p.L391F|CHEK2_uc003adv.1_Missense_Mutation_p.L362F|CHEK2_uc003adx.1_Missense_Mutation_p.L170F	p.L434F	NM_001005735	NP_001005735	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			11	1374	-			391			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1302G>T	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.134212|4.134212	0.77662|0.77662	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	T;T;T;T;T;T;T;T;T|.	0.53206|.	0.94;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.94|.	5.73|5.73	4.72|4.72	0.59763|0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.067121|.	0.64402|.	D|.	0.000013|.	T|T	0.52613|0.52613	0.1745|0.1745	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D|.	0.80764|.	0.989;0.985;0.994;0.992;0.981;0.955|.	T|T	0.44667|0.44667	-0.9313|-0.9313	10|5	0.72032|.	D|.	0.01|.	-23.1802|-23.1802	8.7579|8.7579	0.34656|0.34656	0.1617:0.7588:0.0:0.0795|0.1617:0.7588:0.0:0.0795	.|.	300;170;391;362;391;434|.	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.	.;.;.;.;CHK2_HUMAN;.|.	F|L	362;300;170;391;391;391;434;300;362|135	ENSP00000329012:L362F;ENSP00000372021:L300F;ENSP00000442458:L170F;ENSP00000329178:L391F;ENSP00000385747:L391F;ENSP00000386087:L391F;ENSP00000372023:L434F;ENSP00000384919:L300F;ENSP00000384835:L362F|.	ENSP00000329178:L391F|.	L|W	-|-	3|2	2|0	CHEK2|CHEK2	27421784|27421784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	2.009000|2.009000	0.40903|0.40903	2.710000|2.710000	0.92621|0.92621	0.650000|0.650000	0.86243|0.86243	TTG|TGG		0.423	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		26	14	0	0	0	1	0	26	14					A	29091784	C	A	29091784	3	1	71	1	0	0	0	0	1	0	0	0	3335	593	21	4	478	4	CHEK2	22	29091784	Missense_Mutation	SNP	C	TCGA-DJ-A1QG-01A-11D-A14W-08		29091784	22212782	23	1332											
S1PR1	1901	broad.mit.edu	37	1	101705451	101705451	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr1:101705451C>T	ENST00000305352.6	+	2	1286	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	304					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGCTCAACTCCGGCACCAAC	0.567																																						uc001dud.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(910-912)tCc>tTc		Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.							215	216	215					1																	101705451		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705451C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.911C>T	1.37:g.101705451C>T	ENSP00000305416:p.Ser304Phe		Somatic				S1PR1_uc009weg.2_Missense_Mutation_p.S304F|S1PR1_uc021oqt.1_Missense_Mutation_p.S304F	p.S304F	NM_001400	NP_001391	WXS	Illumina GAIIx	Phase_I	P21453	S1PR1_HUMAN			1	1425	+			304					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.911C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059843	0.76074	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.79749	-1.3	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95945	0.8950	10	0.87932	D	0	.	18.0062	0.89210	0.0:1.0:0.0:0.0	.	304	P21453	S1PR1_HUMAN	F	304	ENSP00000305416:S304F	ENSP00000305416:S304F	S	+	2	0	S1PR1	101478039	1.000000	0.71417	0.928000	0.36995	0.973000	0.67179	7.818000	0.86416	2.226000	0.72624	0.305000	0.20034	TCC		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		126	205	0	0	0	1	0	126	205					T	101705451	C	T	101705451	3	4	72	1	0	0	0	0	1	0	0	0	13793	855	30	2	913	2	S1PR1	1	101705451	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		101705451	147545170	1	1333											
C2orf86	51057	broad.mit.edu	37	2	63631601	63631601	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:63631601C>T	ENST00000272321.7	-	10	1544	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Silent_p.K147K|WDPCP_ENST00000398544.3_Silent_p.K180K|WDPCP_ENST00000409562.3_Silent_p.K339K|WDPCP_ENST00000409120.1_Silent_p.K147K	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	339					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGCTGATGGCCTTTGACTTTA	0.433																																						uc002sch.3																			0		p.S338*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(1015-1017)aaG>aaA		Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.							126	122	123					2																	63631601		1988	4173	6161	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631601C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1017G>A	2.37:g.63631601C>T			Somatic				WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Silent_p.K180K|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Silent_p.K147K|WDPCP_uc002sci.2_Silent_p.K315K|WDPCP_uc010fcr.1_Silent_p.K229K	p.K339K	NM_015910	NP_056994	WXS	Illumina GAIIx	Phase_I	O95876	FRITZ_HUMAN			9	1479	-			339					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.1017G>A	CCDS42688.1																																																																																				0.433	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		3	95	0	0	0	1	0	3	95					T	63631601	C	T	63631601	2	4	72	1	0	0	0	0	0	0	0	1	2201	680	24	2		2	C2orf86	2	63631601	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		63631601	179567772	2	1334											
CD302	9936	broad.mit.edu	37	2	160637475	160637477	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr2:160637475_160637477delTTC	ENST00000259053.4	-	3	254_256	c.211_213delGAA	c.(211-213)gaadel	p.E71del	CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_In_Frame_Del_p.E1712del|LY75-CD302_ENST00000505052.1_In_Frame_Del_p.E1656del|CD302_ENST00000429078.2_In_Frame_Del_p.E71del|LY75_ENST00000553424.1_In_Frame_Del_p.E1656del|LY75-CD302_ENST00000504764.1_In_Frame_Del_p.E1712del	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	71	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.E71Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TAAAAGCATTTTCTTCTTCATTA	0.335																																						uc002ubb.4																			1	Substitution - Missense(1)	p.E71Q(1)	lung(1)								c.(5134-5136)gaadel		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	100526664				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160637475_160637477delTTC	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.211_213delGAA	2.37:g.160637481_160637483delTTC	ENSP00000259053:p.Glu71del		Somatic				LY75-CD302_uc010fos.3_In_Frame_Del_p.E1656del|LY75-CD302_uc002uba.3_In_Frame_Del_p.E71del|LY75-CD302_uc021vrt.1_In_Frame_Del_p.E34del|LY75-CD302_uc010zco.2_In_Frame_Del_p.E71del	p.E1712del	NM_001198759	NP_001185688	WXS	Illumina GAIIx	Phase_I	O60449	LY75_HUMAN			35	5208_5210	-			1580					A8K5G4|B4E2T9|Q15009	In_Frame_Del	DEL	ENST00000259053.4	37	c.5134_5136delGAA	CCDS33308.1																																																																																				0.335	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		28	40						28	40	---	---	---	---	-	160637477	TTC	-	160637475	7	5	72	1	0	1	0	1	0	0	0	0	3003	1838	64	0	501	0	CD302	2	160637475	In_Frame_Del	DEL	TTC	TCGA-DJ-A1QH-01A-21D-A14W-08	97005874	160637475	82561898	3	1335											
HLA-DOA	3111	broad.mit.edu	37	6	32974902	32974902	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:32974902C>A	ENST00000229829.5	-	4	779	c.704G>T	c.(703-705)gGc>gTc	p.G235V	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAGGACGGTGCCCACGAGGAA	0.627																																						uc003ocr.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(703-705)gGc>gTc		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							60	64	63					6																	32974902		2203	4300	6503	SO:0001583	missense	3111				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity	g.chr6:32974902C>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.704G>T	6.37:g.32974902C>A	ENSP00000229829:p.Gly235Val		Somatic				HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	p.G235V	NM_002119	NP_002110	WXS	Illumina GAIIx	Phase_I	P06340	DOA_HUMAN			3	780	-			235					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.704G>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298878	0.81025	.	.	ENSG00000204252	ENST00000229829	T	0.09255	3.0	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39461	-0.9613	10	0.87932	D	0	.	15.7771	0.78232	0.0:1.0:0.0:0.0	.	235	P06340	DOA_HUMAN	V	235	ENSP00000229829:G235V	ENSP00000229829:G235V	G	-	2	0	HLA-DOA	33082880	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	5.282000	0.65615	2.654000	0.90174	0.650000	0.86243	GGC		0.627	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		4	77	0	0	0	1	0	4	77					A	32974902	C	A	32974902	3	1	72	1	0	0	0	0	1	0	0	0	7200	739	26	4	56	4	HLA-DOA	6	32974902	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		32974902	138140165	4	1336											
VEGFA	7422	broad.mit.edu	37	6	43742103	43742103	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:43742103A>G	ENST00000523873.1	+	2	130	c.92A>G	c.(91-93)gAa>gGa	p.E31G	VEGFA_ENST00000372067.3_Missense_Mutation_p.E211G|VEGFA_ENST00000518689.1_Missense_Mutation_p.E31G|VEGFA_ENST00000482630.2_Missense_Mutation_p.E211G|VEGFA_ENST00000417285.2_Missense_Mutation_p.E211G|VEGFA_ENST00000372055.4_Missense_Mutation_p.E211G|VEGFA_ENST00000372064.4_Missense_Mutation_p.E211G|VEGFA_ENST00000523950.1_Missense_Mutation_p.E31G|VEGFA_ENST00000425836.2_Missense_Mutation_p.E211G|VEGFA_ENST00000413642.3_Missense_Mutation_p.E211G|VEGFA_ENST00000372077.4_Missense_Mutation_p.E31G|VEGFA_ENST00000457104.2_Missense_Mutation_p.E31G|VEGFA_ENST00000520948.1_Missense_Mutation_p.E31G|VEGFA_ENST00000230480.6_Missense_Mutation_p.E3G|VEGFA_ENST00000518824.1_Missense_Mutation_p.E31G|VEGFA_ENST00000523125.1_Missense_Mutation_p.E31G|VEGFA_ENST00000324450.6_Missense_Mutation_p.E211G			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	31					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|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 cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|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 epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	CCCATGGCAGAAGGAGGAGGG	0.617											OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owh.3																			0		p.A210A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(631-633)gAa>gGa		Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						87	74	78					6																	43742103		2203	4300	6503	SO:0001583	missense	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43742103A>G	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"vascular endothelial growth factor"	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745	ENST00000523873.1:c.92A>G	6.37:g.43742103A>G	ENSP00000430479:p.Glu31Gly		Somatic	OREG0017458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	VEGFA_uc003owb.3_Missense_Mutation_p.E31G|VEGFA_uc003owd.3_Missense_Mutation_p.E211G|VEGFA_uc010jyx.3_Missense_Mutation_p.E211G|VEGFA_uc003owf.3_Missense_Mutation_p.E211G|VEGFA_uc003owg.3_Missense_Mutation_p.E211G|VEGFA_uc003owe.3_Missense_Mutation_p.E211G|VEGFA_uc021yzu.1_Missense_Mutation_p.E210G|VEGFA_uc003owj.3_Missense_Mutation_p.E211G|VEGFA_uc003owi.3_Missense_Mutation_p.E211G	p.E211G	NM_001171623	NP_001165094	WXS	Illumina GAIIx	Phase_I	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		1	1130	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		31					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.632A>G	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	3.755	-0.050774	0.07407	.	.	ENSG00000112715	ENST00000372067;ENST00000324450;ENST00000417285;ENST00000413642;ENST00000372055;ENST00000482630;ENST00000425836;ENST00000372064;ENST00000372077;ENST00000520948;ENST00000523873;ENST00000523950;ENST00000457104;ENST00000518689;ENST00000523125;ENST00000518824;ENST00000230480;ENST00000520265	.	.	.	4.6	2.19	0.27852	.	.	.	.	.	T	0.06600	0.0169	N	0.11818	0.18	0.22066	N	0.999382	B;B;B;B;B;B;B;B;B	0.24963	0.0;0.014;0.001;0.115;0.0;0.0;0.002;0.001;0.0	B;B;B;B;B;B;B;B;B	0.23716	0.0;0.018;0.003;0.048;0.002;0.0;0.006;0.002;0.001	T	0.37753	-0.9692	8	0.30078	T	0.28	-0.9378	6.1111	0.20102	0.7947:0.0:0.2053:0.0	.	31;211;31;211;31;211;211;31;31	P15692-10;P15692-12;P15692-8;P15692-14;P15692-3;P15692-13;P15692-11;P15692;Q6WZM0	.;.;.;.;.;.;.;VEGFA_HUMAN;.	G	211;211;211;211;211;211;211;211;31;31;31;31;31;31;31;31;3;5	.	ENSP00000230480:E3G	E	+	2	0	VEGFA	43850081	0.989000	0.36119	0.981000	0.43875	0.012000	0.07955	0.096000	0.15147	0.288000	0.22398	0.459000	0.35465	GAA		0.617	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366		5	36	0	0	0	1	0	5	36					G	43742103	A	G	43742103	3	3	72	1	0	0	0	0	1	0	0	0	17147	246	9	3	638	3	VEGFA	6	43742103	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	10767201	43742103	127372964	5	1337											
SIM1	6492	broad.mit.edu	37	6	100838751	100838751	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr6:100838751T>A	ENST00000369208.3	-	12	2569	c.1787A>T	c.(1786-1788)aAt>aTt	p.N596I	SIM1_ENST00000262901.4_Missense_Mutation_p.N596I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	596	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	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(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCAGCCCCATTAATGGAAGC	0.458																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1786-1788)aAt>aTt		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							72	72	72					6																	100838751		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838751T>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1787A>T	6.37:g.100838751T>A	ENSP00000358210:p.Asn596Ile		Somatic				SIM1_uc021zdg.1_Missense_Mutation_p.N596I|SIM1_uc010kcu.3_Missense_Mutation_p.N596I	p.N596I	NM_005068	NP_005059	WXS	Illumina GAIIx	Phase_I	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	2254	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	596			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1787A>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257426	0.39896	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.32515	1.45;1.45	5.82	4.63	0.57726	Single-minded, C-terminal (2);	0.179164	0.64402	N	0.000017	T	0.10423	0.0255	N	0.19112	0.55	0.49582	D	0.999804	B	0.09022	0.002	B	0.10450	0.005	T	0.04579	-1.0941	10	0.87932	D	0	.	12.1552	0.54072	0.1283:0.0:0.0:0.8717	.	596	P81133	SIM1_HUMAN	I	596	ENSP00000358210:N596I;ENSP00000262901:N596I	ENSP00000262901:N596I	N	-	2	0	SIM1	100945472	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	5.902000	0.69869	0.979000	0.38497	0.455000	0.32223	AAT		0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		26	32	0	0	0	1	0	26	32					A	100838751	T	A	100838751	3	1	72	1	0	0	0	0	1	0	0	0	14323	1493	52	5	517	5	SIM1	6	100838751	Missense_Mutation	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08	57096648	100838751	70276316	6	1338											
FLNC	2318	broad.mit.edu	37	7	128478773	128478773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:128478773G>A	ENST00000325888.8	+	8	1588	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	FLNC_ENST00000346177.6_Missense_Mutation_p.A443T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	443					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						ATACAGACCTGCCATGGAGGG	0.632																																						uc003vnz.4																			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.(1327-1329)Gcc>Acc		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							87	97	94					7																	128478773		2118	4215	6333	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478773G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1327G>A	7.37:g.128478773G>A	ENSP00000327145:p.Ala443Thr		Somatic				FLNC_uc003voa.4_Missense_Mutation_p.A443T	p.A443T	NM_001458	NP_001449	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			7	1536	+			443					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1327G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778127	0.16120	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84370	-1.84;-1.84	4.9	4.02	0.46733	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.496053	0.20614	N	0.088919	T	0.48589	0.1508	N	0.00138	-2.015	0.21740	N	0.999569	B;B	0.15930	0.015;0.0	B;B	0.17979	0.02;0.001	T	0.53012	-0.8498	10	0.02654	T	1	.	8.4819	0.33047	0.1777:0.0:0.8223:0.0	.	443;443	Q14315-2;Q14315	.;FLNC_HUMAN	T	443	ENSP00000327145:A443T;ENSP00000344002:A443T	ENSP00000327145:A443T	A	+	1	0	FLNC	128266009	0.993000	0.37304	0.977000	0.42913	0.966000	0.64601	2.365000	0.44196	1.272000	0.44329	0.561000	0.74099	GCC		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			38	90	0	0	0	1	0	38	90					A	128478773	G	A	128478773	3	1	72	1	0	0	0	0	1	0	0	0	5935	1319	46	2	1357	2	FLNC	7	128478773	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		128478773	30659890	7	1339											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	36	0	0	0	1	0	30	36					T	140453136	A	T	140453136	3	4	72	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	11974363	140453136	18685527	8	1340											
KIAA1529	100499483	broad.mit.edu	37	9	100085164	100085164	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:100085164G>C	ENST00000357054.1	+	26	2693	c.1758G>C	c.(1756-1758)aaG>aaC	p.K586N	CCDC180_ENST00000529487.1_Missense_Mutation_p.K447N|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.K447N|CCDC180_ENST00000395220.1_Missense_Mutation_p.K546N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K444N|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	586						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGTATGAGAAGACATGGCAGG	0.532																																						uc011lut.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						c.(1756-1758)aaG>aaC		Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.							109	84	92					9																	100085164		2203	4300	6503	SO:0001583	missense	100499483					integral to membrane		g.chr9:100085164G>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1758G>C	9.37:g.100085164G>C	ENSP00000349562:p.Lys586Asn		Somatic				C9orf174_uc004axe.2_Missense_Mutation_p.K586N|C9orf174_uc011lus.2_Missense_Mutation_p.K404N|C9orf174_uc004axg.2_Missense_Mutation_p.K447N|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.K447N|C9orf174_uc011luv.1_Missense_Mutation_p.K444N	p.K586N	NM_020893	NP_065944	WXS	Illumina GAIIx	Phase_I	Q9P1Z9	CI174_HUMAN			25	2764	+			586					Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.1758G>C		.	.	.	.	.	.	.	.	.	.	G	3.916	-0.019114	0.07634	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.08	-0.991	0.10235	.	1.100060	0.06849	N	0.796973	T	0.22003	0.0530	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.31931	0.347;0.009;0.043;0.009	B;B;B;B	0.30105	0.111;0.016;0.035;0.016	T	0.29822	-0.9999	10	0.39692	T	0.17	-8.6901	4.2608	0.10740	0.3157:0.3187:0.3656:0.0	.	444;586;447;586	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	N	586;546;447;444;470;447	ENSP00000349562:K586N;ENSP00000378646:K546N;ENSP00000364348:K447N;ENSP00000414000:K444N;ENSP00000434727:K447N	ENSP00000349562:K586N	K	+	3	2	C9orf174	99124985	0.097000	0.21791	0.016000	0.15963	0.145000	0.21501	-0.082000	0.11304	-0.016000	0.14127	-0.502000	0.04539	AAG		0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		12	18	0	0	0	1	0	12	18					C	100085164	G	C	100085164	3	2	72	1	0	0	0	0	1	0	0	0	8240	933	33	4	1816	4	KIAA1529	9	100085164	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		100085164	41128267	9	1341											
TRIM32	22954	broad.mit.edu	37	9	119460294	119460294	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr9:119460294C>T	ENST00000450136.1	+	2	434	c.273C>T	c.(271-273)ctC>ctT	p.L91L	ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.L91L|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	91					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGCTGGGCTCAGCGAGGCTG	0.582																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjw.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(271-273)ctC>ctT		Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.							72	67	69					9																	119460294		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460294C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.273C>T	9.37:g.119460294C>T			Somatic				ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjx.2_Silent_p.L91L|TRIM32_uc022bmo.1_Silent_p.L91L	p.L91L	NM_012210	NP_036342	WXS	Illumina GAIIx	Phase_I	Q13049	TRI32_HUMAN			1	434	+			91					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.273C>T	CCDS6817.1																																																																																				0.582	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		31	38	0	0	0	1	0	31	38					T	119460294	C	T	119460294	2	4	72	1	0	0	0	0	0	0	0	1	16503	813	29	2		2	TRIM32	9	119460294	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	19375130	119460294	21753137	10	1342											
OPN4	94233	broad.mit.edu	37	10	88419674	88419674	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:88419674T>C	ENST00000241891.5	+	6	990	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	OPN4_ENST00000372071.2_Missense_Mutation_p.C286R	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	275					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTTCGGGGCCTGCAAGGGCAA	0.637																																						uc010qmk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(856-858)Tgc>Cgc		Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.							100	75	84					10																	88419674		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419674T>C	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.823T>C	10.37:g.88419674T>C	ENSP00000241891:p.Cys275Arg		Somatic				OPN4_uc001kdp.3_Missense_Mutation_p.C286R|OPN4_uc001kdq.3_Missense_Mutation_p.C275R|OPN4_uc009xsx.1_5'Flank	p.C286R	NM_001030015	NP_001025186	WXS	Illumina GAIIx	Phase_I	Q9UHM6	OPN4_HUMAN			6	1083	+			275					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.856T>C	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	T	6.753	0.507722	0.12883	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.68479	-0.29;0.08;-0.33	5.16	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	1.467820	0.03667	N	0.243430	T	0.39809	0.1092	N	0.02192	-0.645	0.19300	N	0.999976	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.18263	0.021;0.008;0.006	T	0.42344	-0.9457	10	0.12430	T	0.62	.	5.9201	0.19078	0.2424:0.0:0.1234:0.6342	.	286;275;286	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	R	286;275;286	ENSP00000361141:C286R;ENSP00000241891:C275R;ENSP00000393132:C286R	ENSP00000241891:C275R	C	+	1	0	OPN4	88409654	0.000000	0.05858	0.954000	0.39281	0.612000	0.37316	-0.116000	0.10724	1.955000	0.56771	0.529000	0.55759	TGC		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		3	51	0	0	0	1	0	3	51					C	88419674	T	C	88419674	3	2	72	1	0	0	0	0	1	0	0	0	10882	1580	55	3	882	3	OPN4	10	88419674	Missense_Mutation	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08		88419674	47115073	11	1343											
GBF1	8729	broad.mit.edu	37	10	104119094	104119094	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr10:104119094G>A	ENST00000369983.3	+	11	1339	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	360					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTAGAGGAGTGCACGTCCCCT	0.552																																						uc001kux.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1078-1080)tGc>tAc		Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.							178	139	152					10																	104119094		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104119094G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1079G>A	10.37:g.104119094G>A	ENSP00000359000:p.Cys360Tyr		Somatic				GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Missense_Mutation_p.C360Y|GBF1_uc001kuz.2_Missense_Mutation_p.C361Y	p.C360Y	NM_004193	NP_004184	WXS	Illumina GAIIx	Phase_I	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	10	1373	+		Colorectal(252;0.0236)	360					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1079G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355979	0.41700	.	.	ENSG00000107862	ENST00000369983	T	0.09538	2.97	5.63	4.73	0.59995	.	0.184359	0.64402	D	0.000019	T	0.10078	0.0247	L	0.51422	1.61	0.42822	D	0.993993	P;P;P	0.42973	0.796;0.641;0.584	B;B;B	0.34180	0.177;0.091;0.091	T	0.06092	-1.0846	10	0.59425	D	0.04	-3.9609	10.6734	0.45772	0.1456:0.0:0.8544:0.0	.	360;360;360	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Y	360	ENSP00000359000:C360Y	ENSP00000359000:C360Y	C	+	2	0	GBF1	104109084	1.000000	0.71417	0.694000	0.30210	0.791000	0.44710	6.104000	0.71498	1.378000	0.46305	0.655000	0.94253	TGC		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			19	37	0	0	0	1	0	19	37					A	104119094	G	A	104119094	3	1	72	1	0	0	0	0	1	0	0	0	6271	1319	46	2	1117	2	GBF1	10	104119094	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08	15699420	104119094	31415653	12	1344											
OR5B3	441608	broad.mit.edu	37	11	58170795	58170795	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:58170795G>A	ENST00000309403.2	-	1	87	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	30			P -> L (in dbSNP:rs17152661).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGATGAAGGGGAACGTTATA	0.398																																						uc010rkf.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(88-90)Ccc>Tcc		Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.							123	120	121					11																	58170795		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170795G>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.88C>T	11.37:g.58170795G>A	ENSP00000308270:p.Pro30Ser		Somatic					p.P30S	NM_001005469	NP_001005469	WXS	Illumina GAIIx	Phase_I	Q8NH48	OR5B3_HUMAN			0	88	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	30		P -> L (in dbSNP:rs17152661).			Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.88C>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	0.922	-0.715523	0.03206	.	.	ENSG00000172769	ENST00000309403	T	0.00575	6.46	4.19	-0.703	0.11261	.	0.966290	0.08466	N	0.941653	T	0.00241	0.0007	N	0.00385	-1.57	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40850	-0.9541	10	0.54805	T	0.06	-12.056	6.2218	0.20685	0.1951:0.0:0.4523:0.3526	.	30	Q8NH48	OR5B3_HUMAN	S	30	ENSP00000308270:P30S	ENSP00000308270:P30S	P	-	1	0	OR5B3	57927371	0.000000	0.05858	0.017000	0.16124	0.001000	0.01503	-0.190000	0.09615	-0.196000	0.10366	-1.160000	0.01791	CCC		0.398	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		5	126	0	0	0	1	0	5	126					A	58170795	G	A	58170795	3	1	72	1	0	0	0	0	1	0	0	0	11152	1232	43	2	858	2	OR5B3	11	58170795	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		58170795	76835721	13	1345											
TYR	7299	broad.mit.edu	37	11	88911586	88911586	+	Silent	SNP	C	C	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCATAGGGACCTATGGCCAAA	0.413																																						uc001pcs.3																			0		p.G154W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(463-465)acC>acA		Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						157	149	151					11																	88911586		2201	4299	6500	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911586C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.465C>A	11.37:g.88911586C>A			Somatic					p.T155T	NM_000372	NP_000363	WXS	Illumina GAIIx	Phase_I	P14679	TYRO_HUMAN			0	547	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	155		T -> S (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.465C>A	CCDS8284.1																																																																																				0.413	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		49	74	0	0	0	1	0	49	74					A	88911586	C	A	88911586	2	1	72	1	0	0	0	0	0	0	0	1	16810	668	24	4		4	TYR	11	88911586	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	30740791	88911586	46094930	14	1346											
ATN1	1822	broad.mit.edu	37	12	7045484	7045484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:7045484delC	ENST00000356654.4	+	5	1291	c.1054delC	c.(1054-1056)ctgfs	p.L352fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.L352fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	352					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.L352V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCCCAACTCTGGCTCCTTC	0.612																																						uc001qrw.1																			1	Substitution - Missense(1)	p.L352V(2)	lung(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1054-1056)ctgfs		Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.							129	133	132					12																	7045484		2203	4300	6503	SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045484delC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1054delC	12.37:g.7045484delC	ENSP00000349076:p.Leu352fs		Somatic				ATN1_uc001qrx.1_Frame_Shift_Del_p.L352fs|ATN1_uc001qry.1_Frame_Shift_Del_p.L351fs	p.L352fs	NM_001007026	NP_001931	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			4	1291	+			352					Q99495|Q99621|Q9UEK7	Frame_Shift_Del	DEL	ENST00000356654.4	37	c.1054delC	CCDS31734.1																																																																																				0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		61	122						61	122	---	---	---	---	-	7045484	C	-	7045484	7	5	72	1	0	1	0	1	0	0	0	0	1111	912	32	0	1068	0	ATN1	12	7045484	Frame_Shift_Del	DEL	C	TCGA-DJ-A1QH-01A-21D-A14W-08		7045484	126806411	15	1347											
PZP	5858	broad.mit.edu	37	12	9352975	9352975	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:9352975A>C	ENST00000261336.2	-	7	768	c.740T>G	c.(739-741)aTa>aGa	p.I247R	PZP_ENST00000381997.2_Missense_Mutation_p.I116R	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	247					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGACTGTTATGTTCACTTT	0.313																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(739-741)aTa>aGa		Homo sapiens pregnancy-zone protein (PZP), mRNA.							134	118	123					12																	9352975		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9352975A>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.740T>G	12.37:g.9352975A>C	ENSP00000261336:p.Ile247Arg		Somatic				PZP_uc009zgl.3_Missense_Mutation_p.I116R	p.I247R	NM_002864	NP_002855	WXS	Illumina GAIIx	Phase_I					6	769	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.740T>G	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223219	0.39300	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36699	1.41;1.24	3.37	3.37	0.38596	.	0.229594	0.28393	U	0.015508	T	0.44244	0.1284	L	0.43923	1.385	0.09310	N	1	D;D	0.64830	0.994;0.966	P;P	0.60789	0.879;0.492	T	0.17410	-1.0370	10	0.87932	D	0	.	8.726	0.34469	1.0:0.0:0.0:0.0	.	116;247	P20742-2;P20742	.;PZP_HUMAN	R	247;116	ENSP00000261336:I247R;ENSP00000371427:I116R	ENSP00000261336:I247R	I	-	2	0	PZP	9244242	0.077000	0.21312	0.002000	0.10522	0.255000	0.26057	4.818000	0.62657	1.505000	0.48720	0.254000	0.18369	ATA		0.313	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	16	0	0	0	1	0	7	16					C	9352975	A	C	9352975	3	2	72	1	0	0	0	0	1	0	0	0	12869	449	16	5	3828	5	PZP	12	9352975	Missense_Mutation	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	2307491	9352975	124498920	16	1348											
C12orf11	55726	broad.mit.edu	37	12	27089676	27089676	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:27089676C>T	ENST00000261191.7	-	2	597	c.61G>A	c.(61-63)Gca>Aca	p.A21T	FGFR1OP2_ENST00000327214.5_5'Flank|FGFR1OP2_ENST00000229395.3_5'Flank|FGFR1OP2_ENST00000546072.1_5'Flank|ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	21					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAGATTCTGCCATATAAGGG	0.383																																						uc001rhk.4																			0											c.(61-63)Gca>Aca		Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.							62	63	63					12																	27089676		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27089676C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.61G>A	12.37:g.27089676C>T	ENSP00000261191:p.Ala21Thr		Somatic				ASUN_uc010sjk.2_Intron|FGFR1OP2_uc001rhl.3_5'Flank|FGFR1OP2_uc001rhm.3_5'Flank|FGFR1OP2_uc001rhn.3_5'Flank	p.A21T	NM_018164	NP_060634	WXS	Illumina GAIIx	Phase_I	Q9NVM9	M89BB_HUMAN			1	598	-			21					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.61G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050405	0.75960	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.49139	0.79;0.79;0.79	5.56	4.65	0.58169	.	0.114168	0.64402	D	0.000014	T	0.50905	0.1643	L	0.55481	1.735	0.80722	D	1	P	0.35328	0.495	B	0.42555	0.391	T	0.55250	-0.8170	10	0.66056	D	0.02	-19.7052	13.7105	0.62665	0.2802:0.7197:0.0:0.0	.	21	Q9NVM9	M89BB_HUMAN	T	21	ENSP00000261191:A21T;ENSP00000446183:A21T;ENSP00000443066:A21T	ENSP00000261191:A21T	A	-	1	0	C12orf11	26980943	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.442000	0.59988	1.431000	0.47355	0.655000	0.94253	GCA		0.383	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		3	63	0	0	0	1	0	3	63					T	27089676	C	T	27089676	3	4	72	1	0	0	0	0	1	0	0	0	1675	739	26	2	2123	2	C12orf11	12	27089676	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	17736701	27089676	106762219	17	1349											
SNRNP35	11066	broad.mit.edu	37	12	123950629	123950629	+	Missense_Mutation	SNP	G	G	A	rs371556636		TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr12:123950629G>A	ENST00000526639.2	+	2	1121	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R181Q|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R186Q	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	181	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAGGGAAAACGGGAAAGGCGG	0.527																																						uc021rfv.1																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(556-558)cGg>cAg		Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43	50	48		542,557	5.8	0.8	12		48	0,8600		0,0,4300	no	missense,missense	SNRNP35	NM_022717.2,NM_180699.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	181/247,186/252	123950629	1,13005	2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding	g.chr12:123950629G>A	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"RNA binding motif (RRM) containing"	30852	protein-coding gene	gene with protein product	"U1 snRNP binding protein homolog"					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.542G>A	12.37:g.123950629G>A	ENSP00000432595:p.Arg181Gln		Somatic				SNRNP35_uc001ufb.1_Missense_Mutation_p.R181Q|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Missense_Mutation_p.R181Q	p.R186Q	NM_180699	NP_073208	WXS	Illumina GAIIx	Phase_I	Q16560	U1SBP_HUMAN			1	607	+			181			Arg-rich.		A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.557G>A	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777966	0.49786	2.27E-4	0.0	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.32753	1.45;1.44;1.45	5.76	5.76	0.90799	.	0.660738	0.14833	N	0.295745	T	0.12263	0.0298	N	0.08118	0	0.43808	D	0.996362	P;P	0.48089	0.825;0.905	B;B	0.30316	0.114;0.072	T	0.14200	-1.0481	10	0.18710	T	0.47	-16.2423	11.9133	0.52751	0.0:0.1381:0.7344:0.1275	.	186;181	Q16560-2;Q16560	.;U1SBP_HUMAN	Q	181;186;181	ENSP00000432595:R181Q;ENSP00000403310:R186Q;ENSP00000340774:R181Q	ENSP00000340774:R181Q	R	+	2	0	SNRNP35	122516582	0.999000	0.42202	0.837000	0.33122	0.928000	0.56348	4.265000	0.58865	2.753000	0.94483	0.555000	0.69702	CGG		0.527	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		6	56	0	0	0	1	0	6	56					A	123950629	G	A	123950629	3	1	72	1	0	0	0	0	1	0	0	0	14855	1116	39	1	563	1	SNRNP35	12	123950629	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08	96860953	123950629	9901266	18	1350											
SDCCAG1	9147	broad.mit.edu	37	14	50318332	50318332	+	Silent	SNP	T	T	C			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:50318332T>C	ENST00000298310.5	-	3	629	c.180A>G	c.(178-180)acA>acG	p.T60T	NEMF_ENST00000556672.1_Silent_p.T60T|NEMF_ENST00000546046.1_Silent_p.T60T|RN7SL3_ENST00000578231.1_RNA|NEMF_ENST00000545773.1_Silent_p.T60T			O60524	NEMF_HUMAN	nuclear export mediator factor	60					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAAATTCTGTTGTATGAATTC	0.358																																						uc010anj.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(178-180)acA>acG		Homo sapiens nuclear export mediator factor (NEMF), mRNA.							114	113	113					14																	50318332		2203	4300	6503	SO:0001819	synonymous_variant	9147					cytoplasm|nucleus		g.chr14:50318332T>C	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.180A>G	14.37:g.50318332T>C			Somatic				NEMF_uc001wxc.3_Silent_p.T60T|NEMF_uc010tqi.2_Silent_p.T60T|NEMF_uc001wxe.2_Silent_p.T60T|NEMF_uc010anq.1_5'UTR	p.T60T	NM_004713	NP_004704	WXS	Illumina GAIIx	Phase_I	O60524	NEMF_HUMAN			2	248	-			60					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	c.180A>G	CCDS9694.1																																																																																				0.358	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		3	47	0	0	0	1	0	3	47					C	50318332	T	C	50318332	2	2	72	1	0	0	0	0	0	0	0	1	13957	1799	63	3		3	SDCCAG1	14	50318332	Silent	SNP	T	TCGA-DJ-A1QH-01A-21D-A14W-08		50318332	57031208	19	1351											
MTHFD1	4522	broad.mit.edu	37	14	64908830	64908830	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr14:64908830C>T	ENST00000545908.1	+	20	2340	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	CTD-2555O16.4_ENST00000609125.1_RNA|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.S648F			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	648	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGCAATTCCTCCATCATTGCA	0.498																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc010aqf.3																			0		p.L704L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2110-2112)tCc>tTc		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						115	101	106					14																	64908830		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64908830C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2111C>T	14.37:g.64908830C>T	ENSP00000438588:p.Ser704Phe		Somatic				MTHFD1_uc001xhb.3_Missense_Mutation_p.S648F	p.S704F	NM_005956	NP_005947	WXS	Illumina GAIIx	Phase_I	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	19	2330	+			648			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2111C>T		.	.	.	.	.	.	.	.	.	.	C	19.88	3.909120	0.72868	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.38077	1.16;1.16;1.16	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87693	0.2555	10	0.87932	D	0	-14.4291	20.5827	0.99408	0.0:1.0:0.0:0.0	.	704;648	F5H2F4;G3V2B8	.;.	F	704;648;704	ENSP00000438588:S704F;ENSP00000450560:S648F;ENSP00000216605:S704F	ENSP00000216605:S648F	S	+	2	0	MTHFD1	63978583	1.000000	0.71417	0.973000	0.42090	0.085000	0.17905	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCC		0.498	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			4	46	0	0	0	1	0	4	46					T	64908830	C	T	64908830	3	4	72	1	0	0	0	0	1	0	0	0	9927	855	30	2	2021	2	MTHFD1	14	64908830	Missense_Mutation	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08	14590498	64908830	42440710	20	1352											
MAPKBP1	23005	broad.mit.edu	37	15	42115281	42115281	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr15:42115281C>T	ENST00000456763.2	+	29	3673	c.3477C>T	c.(3475-3477)agC>agT	p.S1159S	RP11-23P13.4_ENST00000510176.1_RNA|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.S1036S|MAPKBP1_ENST00000260357.7_Silent_p.S992S|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000457542.2_Silent_p.S1153S	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1159										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)		GCAACCCCAGCCCCCAGCAGG	0.657																																						uc001zok.4																			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.(3475-3477)agC>agT		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							33	30	31					15																	42115281		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42115281C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3477C>T	15.37:g.42115281C>T			Somatic				MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Silent_p.S992S|MAPKBP1_uc001zoj.4_Silent_p.S1153S|MAPKBP1_uc010bcj.3_Silent_p.S660S|MAPKBP1_uc010bck.3_Silent_p.S370S|MAPKBP1_uc010bcl.3_Silent_p.S660S	p.S1159S	NM_001128608	NP_001122080	WXS	Illumina GAIIx	Phase_I	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)	28	3763	+		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)	1159					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.3477C>T	CCDS45239.1																																																																																				0.657	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		22	28	0	0	0	1	0	22	28					T	42115281	C	T	42115281	2	4	72	1	0	0	0	0	0	0	0	1	9292	738	26	2		2	MAPKBP1	15	42115281	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		42115281	60416111	21	1353											
YBX2	51087	broad.mit.edu	37	17	7193773	7193773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:7193773G>A	ENST00000007699.5	-	5	604	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	181					mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						ATGAATCGGCGGGACTTACGT	0.647																																						uc002gfq.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(541-543)Cgc>Tgc		Homo sapiens Y box binding protein 2 (YBX2), mRNA.							35	39	37					17																	7193773		2194	4282	6476	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193773G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.541C>T	17.37:g.7193773G>A	ENSP00000007699:p.Arg181Cys		Somatic					p.R181C	NM_015982	NP_057066	WXS	Illumina GAIIx	Phase_I	Q9Y2T7	YBOX2_HUMAN			4	598	-			181					D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.541C>T	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453200	0.84209	.	.	ENSG00000006047	ENST00000007699	T	0.32988	1.43	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.63111	-0.6710	10	0.87932	D	0	-4.7685	15.478	0.75501	0.0:0.0:1.0:0.0	.	181	Q9Y2T7	YBOX2_HUMAN	C	181	ENSP00000007699:R181C	ENSP00000007699:R181C	R	-	1	0	YBX2	7134497	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.383000	0.59600	2.613000	0.88420	0.561000	0.74099	CGC		0.647	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		3	55	0	0	0	1	0	3	55					A	7193773	G	A	7193773	3	1	72	1	0	0	0	0	1	0	0	0	17467	1116	39	1	569	1	YBX2	17	7193773	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		7193773	74001437	22	1354											
STXBP4	252983	broad.mit.edu	37	17	53063607	53063607	+	Silent	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr17:53063607A>G	ENST00000376352.2	+	3	234	c.27A>G	c.(25-27)gtA>gtG	p.V9V	STXBP4_ENST00000299341.4_5'UTR|STXBP4_ENST00000405898.1_Silent_p.V9V|STXBP4_ENST00000398391.2_5'UTR|STXBP4_ENST00000434978.2_Silent_p.V9V	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	9					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTACTGTAGTATCACCCAGTC	0.259																																						uc002iuf.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(25-27)gtA>gtG		Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.							56	62	60					17																	53063607		2203	4291	6494	SO:0001819	synonymous_variant	252983					cytoplasm	calcium ion binding	g.chr17:53063607A>G	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.27A>G	17.37:g.53063607A>G			Somatic				STXBP4_uc010dcc.1_5'UTR|STXBP4_uc010dcd.1_Silent_p.V9V	p.V9V	NM_178509	NP_848604	WXS	Illumina GAIIx	Phase_I	Q6ZWJ1	STXB4_HUMAN			2	234	+			9					Q8IVZ5	Silent	SNP	ENST00000376352.2	37	c.27A>G	CCDS11584.2																																																																																				0.259	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		24	35	0	0	0	1	0	24	35					G	53063607	A	G	53063607	2	3	72	1	0	0	0	0	0	0	0	1	15354	436	16	3		3	STXBP4	17	53063607	Silent	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	45869834	53063607	28131603	23	1355											
MYOM1	8736	broad.mit.edu	37	18	3102502	3102502	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr18:3102502G>A	ENST00000356443.4	-	23	3878	c.3545C>T	c.(3544-3546)cCa>cTa	p.P1182L	MYOM1_ENST00000400569.3_Missense_Mutation_p.P1182L|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1086L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1182	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTCCAATCGTGGAGAGTCCTC	0.433																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3544-3546)cCa>cTa		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							215	209	211					18																	3102502		1896	4130	6026	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3102502G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3545C>T	18.37:g.3102502G>A	ENSP00000348821:p.Pro1182Leu		Somatic				MYOM1_uc002klq.3_Missense_Mutation_p.P1086L	p.P1182L	NM_003803	NP_003794	WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			22	3879	-			1182			Ig-like C2-type 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3545C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517412	0.27123	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.66815	-0.23;-0.23;-0.23	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168819	0.53938	D	0.000044	T	0.60637	0.2284	L	0.29908	0.895	0.47698	D	0.999496	P;P	0.43857	0.819;0.461	B;B	0.42798	0.398;0.232	T	0.59542	-0.7435	10	0.33141	T	0.24	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	1086;1182	P52179-2;P52179	.;MYOM1_HUMAN	L	1182;1182;1086	ENSP00000348821:P1182L;ENSP00000383413:P1182L;ENSP00000261606:P1086L	ENSP00000261606:P1086L	P	-	2	0	MYOM1	3092502	0.995000	0.38212	0.430000	0.26722	0.089000	0.18198	5.406000	0.66357	2.554000	0.86153	0.557000	0.71058	CCA		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		25	110	0	0	0	1	0	25	110					A	3102502	G	A	3102502	3	1	72	1	0	0	0	0	1	0	0	0	10091	1348	47	2	1576	2	MYOM1	18	3102502	Missense_Mutation	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		3102502	74974746	24	1356											
TMPRSS15	5651	broad.mit.edu	37	21	19770630	19770630	+	Silent	SNP	C	C	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chr21:19770630C>T	ENST00000284885.3	-	2	195	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	54	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTTCATGACTCTGTCCAAGTG	0.343																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(160-162)caG>caA		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							70	72	71					21																	19770630		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770630C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.162G>A	21.37:g.19770630C>T			Somatic					p.Q54Q	NM_002772	NP_002763	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			1	193	-			54			SEA.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.162G>A	CCDS13571.1																																																																																				0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		4	67	0	0	0	1	0	4	67					T	19770630	C	T	19770630	2	4	72	1	0	0	0	0	0	0	0	1	16243	912	32	2		2	TMPRSS15	21	19770630	Silent	SNP	C	TCGA-DJ-A1QH-01A-21D-A14W-08		19770630	28359265	25	1357											
PPEF1	5475	broad.mit.edu	37	X	18748426	18748426	+	Splice_Site	SNP	G	G	T			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:18748426G>T	ENST00000361511.4	+	5	668	c.174G>T	c.(172-174)caG>caT	p.Q58H	PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Splice_Site_p.Q58H|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Splice_Site_p.Q58H|PPEF1_ENST00000359763.6_Splice_Site_p.Q58H	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	58					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)					GCCAAATGCAGGTCTGTTTTG	0.423																																						uc004cyq.3																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.e5+1		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							223	172	189					X																	18748426		2203	4300	6503	SO:0001630	splice_region_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:18748426G>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.174+1G>T	X.37:g.18748426G>T			Somatic				PPEF1_uc004cyp.3_Splice_Site_p.Q58_splice|PPEF1_uc004cyr.3_Splice_Site_p.Q58_splice|PPEF1_uc004cys.3_Splice_Site_p.Q58_splice|PPEF1_uc011mja.2_Intron|PPEF1_uc011mjb.2_Splice_Site_p.Q2_splice	p.Q58_splice	NM_006240	NP_006231	WXS	Illumina GAIIx	Phase_I	O14829	PPE1_HUMAN			5	655	+	Hepatocellular(33;0.183)		58					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Splice_Site	SNP	ENST00000361511.4	37	c.174_splice	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047001	0.75846	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.25414	3.15;2.97;3.0;1.8	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000099	T	0.50548	0.1622	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.50398	-0.8833	10	0.72032	D	0.01	-10.6144	17.5039	0.87739	0.0:0.0:1.0:0.0	.	58;58;58	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	H	58	ENSP00000354871:Q58H;ENSP00000352806:Q58H;ENSP00000341892:Q58H;ENSP00000437785:Q58H	ENSP00000341892:Q58H	Q	+	3	2	PPEF1	18658347	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	8.525000	0.90583	2.403000	0.81681	0.506000	0.49869	CAG		0.423	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	Missense_Mutation	73	110	0	0	0	1	0	73	110					T	18748426	G	T	18748426	5	4	72	1	0	0	0	0	0	0	1	0	12307	1014	35	4	180	4	PPEF1	23	18748426	Splice_Site	SNP	G	TCGA-DJ-A1QH-01A-21D-A14W-08		18748426	136522134	26	1358											
GLRA4	441509	broad.mit.edu	37	X	102977177	102977177	+	Silent	SNP	A	A	G			TCGA-DJ-A1QH-01A-21D-A14W-08	TCGA-DJ-A1QH-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41addb07-cde1-4a1c-934e-15aa3627f7e4	54ca3f7a-ee20-494f-8af5-8724334955e3	g.chrX:102977177A>G	ENST00000372617.4	-	6	1041	c.621T>C	c.(619-621)gaT>gaC	p.D207D	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	207						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)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGCAGGAGCATCTTCCAGCC	0.537																																						uc011mse.2																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(619-621)gaT>gaC		Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.							115	123	121					X																	102977177		2140	4254	6394	SO:0001819	synonymous_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102977177A>G	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.621T>C	X.37:g.102977177A>G			Somatic				GLRA4_uc010nou.2_Silent_p.D207D	p.D207D	NM_001024452	NP_001019623	WXS	Illumina GAIIx	Phase_I	Q5JXX5	GLRA4_HUMAN			5	1042	-			207						Silent	SNP	ENST00000372617.4	37	c.621T>C	CCDS43980.2																																																																																				0.537	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		9	208	0	0	0	1	0	9	208					G	102977177	A	G	102977177	2	3	72	1	0	0	0	0	0	0	0	1	6457	214	8	3		3	GLRA4	23	102977177	Silent	SNP	A	TCGA-DJ-A1QH-01A-21D-A14W-08	84228751	102977177	52293383	27	1359											
IFI44	10561	broad.mit.edu	37	1	79116042	79116042	+	Silent	SNP	T	T	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:79116042T>A	ENST00000370747.4	+	2	247	c.162T>A	c.(160-162)atT>atA	p.I54I	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	54					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TAACAGTGATTTATAGTGAAG	0.393																																						uc001dip.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(160-162)atT>atA		Homo sapiens interferon-induced protein 44 (IFI44), mRNA.							181	178	179					1																	79116042		2203	4300	6503	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79116042T>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.162T>A	1.37:g.79116042T>A			Somatic				IFI44_uc010orr.1_Silent_p.I54I|IFI44_uc010ors.1_Intron	p.I54I	NM_006417	NP_006408	WXS	Illumina GAIIx	Phase_I	Q8TCB0	IFI44_HUMAN			1	286	+			54					B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	c.162T>A	CCDS688.1																																																																																				0.393	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		4	153	0	0	0	1	0	4	153					A	79116042	T	A	79116042	2	1	73	1	0	0	0	0	0	0	0	1	7517	1829	64	5		5	IFI44	1	79116042	Silent	SNP	T	TCGA-DJ-A1QI-01A-11D-A14W-08		79116042	170134579	1	1360											
HEATR1	55127	broad.mit.edu	37	1	236734652	236734652	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:236734652G>A	ENST00000366582.3	-	28	4061	c.3947C>T	c.(3946-3948)cCg>cTg	p.P1316L	HEATR1_ENST00000366581.2_Splice_Site_p.P1235L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1316					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACGCTTACCGGAAATATTCC	0.403																																						uc001hyd.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.e28+1		Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.							49	51	51					1																	236734652		2203	4300	6503	SO:0001630	splice_region_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236734652G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3948+1C>T	1.37:g.236734652G>A			Somatic				HEATR1_uc009xgh.2_Splice_Site_p.P478_splice	p.P1316_splice	NM_018072	NP_060542	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		28	4100	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1316					Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	ENST00000366582.3	37	c.3948_splice	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090596	0.94149	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.56941	0.43;0.43	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.974;1.0	T	0.81398	-0.0951	10	0.66056	D	0.02	.	19.0871	0.93209	0.0:0.0:1.0:0.0	.	1235;1316	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	1316;1235	ENSP00000355541:P1316L;ENSP00000355540:P1235L	ENSP00000355540:P1235L	P	-	2	0	HEATR1	234801275	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.504000	0.84457	0.585000	0.79938	CCG		0.403	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Missense_Mutation	3	53	0	0	0	1	0	3	53					A	236734652	G	A	236734652	5	1	73	1	0	0	0	0	0	0	1	0	7027	1130	39	1	2559	1	HEATR1	1	236734652	Splice_Site	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08	157618610	236734652	12515969	2	1361											
ANKAR	150709	broad.mit.edu	37	2	190595298	190595298	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr2:190595298C>G	ENST00000520309.1	+	16	3359	c.3271C>G	c.(3271-3273)Cta>Gta	p.L1091V	ANKAR_ENST00000431575.2_Missense_Mutation_p.L1020V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L1091V|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000281412.6_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1091						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)			TATCCAACTACTAAGAAATCA	0.338																																						uc002uqw.2																			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.(3271-3273)Cta>Gta		Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.							99	93	95					2																	190595298		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190595298C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3271C>G	2.37:g.190595298C>G	ENSP00000427882:p.Leu1091Val		Somatic				ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Intron|ANKAR_uc002uqy.2_Missense_Mutation_p.L187V	p.L1091V	NM_144708	NP_653309	WXS	Illumina GAIIx	Phase_I	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		15	3359	+			1091					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3271C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003558	0.54254	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.64260	-0.09;-0.09;-0.09	4.12	4.12	0.48240	.	0.000000	0.47093	D	0.000249	T	0.73410	0.3583	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.75470	-0.3306	10	0.72032	D	0.01	-3.497	9.4494	0.38717	0.0:0.8986:0.0:0.1014	.	167	E9PHS9	.	V	1091;1091;1020;167	ENSP00000427882:L1091V;ENSP00000313513:L1091V;ENSP00000393043:L1020V	ENSP00000313513:L1091V	L	+	1	2	ANKAR	190303543	0.982000	0.34865	0.941000	0.38009	0.967000	0.64934	2.699000	0.47077	2.295000	0.77249	0.491000	0.48974	CTA		0.338	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		14	27	0	0	0	1	0	14	27					G	190595298	C	G	190595298	3	3	73	1	0	0	0	0	1	0	0	0	623	564	20	4	3329	4	ANKAR	2	190595298	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		190595298	52604075	3	1362											
STXBP5L	9515	broad.mit.edu	37	3	121097680	121097680	+	Missense_Mutation	SNP	G	G	A	rs368965958		TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr3:121097680G>A	ENST00000273666.6	+	22	2637	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R789Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R765Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	789					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCACCATTTCGAAAGGCCCAG	0.398																																						uc003eec.4																			0		p.R789*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2365-2367)cGa>cAa		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.		G	GLN/ARG	0,3696		0,0,1848	54	51	52		2366	5.1	1.0	3		52	2,8200		0,2,4099	no	missense	STXBP5L	NM_014980.2	43	0,2,5947	AA,AG,GG		0.0244,0.0,0.0168	possibly-damaging	789/1187	121097680	2,11896	1848	4101	5949	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097680G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2366G>A	3.37:g.121097680G>A	ENSP00000273666:p.Arg789Gln		Somatic				STXBP5L_uc011bji.2_Missense_Mutation_p.R765Q	p.R789Q	NM_014980	NP_055795	WXS	Illumina GAIIx	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	21	2506	+			789					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2366G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481576	0.63849	0.0	2.44E-4	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.28454	1.82;1.85;1.65;1.61	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	L	0.51422	1.61	0.80722	D	1	D;P	0.54601	0.967;0.787	B;B	0.39068	0.289;0.197	T	0.10154	-1.0642	10	0.11485	T	0.65	-9.7102	17.7945	0.88565	0.0:0.0:1.0:0.0	.	765;789	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	789;765;765;789	ENSP00000273666:R789Q;ENSP00000420019:R765Q;ENSP00000419627:R765Q;ENSP00000420666:R789Q	ENSP00000273666:R789Q	R	+	2	0	STXBP5L	122580370	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.182000	0.94881	2.514000	0.84764	0.585000	0.79938	CGA		0.398	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	31	0	0	0	1	0	17	31					A	121097680	G	A	121097680	3	1	73	1	0	0	0	0	1	0	0	0	15356	1058	37	1	2448	1	STXBP5L	3	121097680	Missense_Mutation	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		121097680	76924750	4	1363											
OR2H2	7932	broad.mit.edu	37	6	29556434	29556434	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr6:29556434C>T	ENST00000383640.2	+	1	752	c.713C>T	c.(712-714)aCc>aTc	p.T238I	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	238					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	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)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTTTTGGGACCTGCTCCTCC	0.532																																						uc003nmr.1																			0		p.G237V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(712-714)aCc>aTc		Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.							108	102	105					6																	29556434		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556434C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"GPCR / Class A : Olfactory receptors"	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.713C>T	6.37:g.29556434C>T	ENSP00000373136:p.Thr238Ile		Somatic				GABBR1_uc003nmp.4_Intron	p.T238I	NM_007160	NP_009091	WXS	Illumina GAIIx	Phase_I	O95918	OR2H2_HUMAN			0	752	+			238					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.713C>T	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142938	0.57044	.	.	ENSG00000204657	ENST00000383640	T	0.42513	0.97	4.09	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000688	T	0.50752	0.1634	M	0.94063	3.49	0.36245	D	0.853555	P	0.50066	0.931	P	0.50659	0.647	T	0.64504	-0.6392	10	0.72032	D	0.01	.	10.7172	0.46019	0.0:0.9032:0.0:0.0968	.	238	O95918	OR2H2_HUMAN	I	238	ENSP00000373136:T238I	ENSP00000373136:T238I	T	+	2	0	OR2H2	29664413	1.000000	0.71417	0.933000	0.37362	0.651000	0.38670	4.507000	0.60434	0.921000	0.36994	-0.237000	0.12165	ACC		0.532	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			10	68	0	0	0	1	0	10	68					T	29556434	C	T	29556434	3	4	73	1	0	0	0	0	1	0	0	0	11002	507	18	2	715	2	OR2H2	6	29556434	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		29556434	141558633	5	1364											
SP4	6671	broad.mit.edu	37	7	21469100	21469100	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:21469100C>T	ENST00000222584.3	+	3	535	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	106					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A106V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTTGTTGCCTCCACTCCT	0.438																																						uc003sva.3																			1	Substitution - Missense(1)	p.A106V(2)	kidney(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(316-318)gCc>gTc		Homo sapiens Sp4 transcription factor (SP4), mRNA.							102	86	92					7																	21469100		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469100C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.317C>T	7.37:g.21469100C>T	ENSP00000222584:p.Ala106Val		Somatic				SP4_uc003svb.3_5'UTR	p.A106V	NM_003112	NP_003103	WXS	Illumina GAIIx	Phase_I	Q02446	SP4_HUMAN			2	498	+			106					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.317C>T	CCDS5373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.850554|2.850554	0.51270|0.51270	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000222584|ENST00000446800	T|.	0.09445|.	2.98|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.110120|.	0.64402|.	D|.	0.000007|.	T|T	0.63663|0.63663	0.2530|0.2530	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999977|0.999977	B|.	0.19583|.	0.037|.	B|.	0.18871|.	0.023|.	T|T	0.68465|0.68465	-0.5401|-0.5401	10|6	0.66056|0.87932	D|D	0.02|0	.|.	17.3279|17.3279	0.87255|0.87255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q02446|.	SP4_HUMAN|.	V|S	106|83	ENSP00000222584:A106V|.	ENSP00000222584:A106V|ENSP00000402421:P83S	A|P	+|+	2|1	0|0	SP4|SP4	21435625|21435625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.110000|7.110000	0.77069|0.77069	2.308000|2.308000	0.77769|0.77769	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.438	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		20	32	0	0	0	1	0	20	32					T	21469100	C	T	21469100	3	4	73	1	0	0	0	0	1	0	0	0	14966	739	26	2	327	2	SP4	7	21469100	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		21469100	137669563	6	1365											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	51	0	0	0	1	0	33	51					T	140453136	A	T	140453136	3	4	73	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QI-01A-11D-A14W-08	118984036	140453136	18685527	7	1366											
BHLHE22	27319	broad.mit.edu	37	8	65493711	65493711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr8:65493711delG	ENST00000321870.1	+	1	898	c.364delG	c.(364-366)gggfs	p.G122fs	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	122	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCTGCCGGCCGGGGCCGCCCT	0.751																																					Colon(113;104 1586 2865 9855 18065)	uc003xvi.3																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(364-366)gggfs		Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.							4	5	4					8																	65493711		1556	3263	4819	SO:0001589	frameshift_variant	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493711delG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.364delG	8.37:g.65493711delG	ENSP00000318799:p.Gly122fs		Somatic				LOC401463_uc003xvh.3_Intron	p.G122fs	NM_152414	NP_689627	WXS	Illumina GAIIx	Phase_I	Q8NFJ8	BHE22_HUMAN			0	917	+			122			Gly-rich.			Frame_Shift_Del	DEL	ENST00000321870.1	37	c.364delG	CCDS6179.1																																																																																				0.751	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---	-	65493711	G	-	65493711	7	5	73	1	0	1	0	1	0	0	0	0	1421	1116	39	0	366	0	BHLHE22	8	65493711	Frame_Shift_Del	DEL	G	TCGA-DJ-A1QI-01A-11D-A14W-08		65493711	80870311	8	1367											
C10orf53	282966	broad.mit.edu	37	10	50902594	50902594	+	Silent	SNP	T	T	C			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr10:50902594T>C	ENST00000374111.3	+	3	240	c.228T>C	c.(226-228)ggT>ggC	p.G76G	C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	76										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAGGCGATGGTAAACTAGACC	0.458																																						uc001jib.3																			0		p.T76T(2)		endometrium(1)|lung(6)	7						c.(226-228)ggT>ggC		Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 2, mRNA.							96	98	97					10																	50902594		1962	4160	6122	SO:0001819	synonymous_variant	282966							g.chr10:50902594T>C	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.228T>C	10.37:g.50902594T>C			Somatic				C10orf53_uc001jic.1_3'UTR|C10orf53_uc001jid.1_Intron	p.G76G	NM_001042427	NP_001035892	WXS	Illumina GAIIx	Phase_I	Q8N6V4	CJ053_HUMAN			2	288	+		all_neural(218;0.107)	76					A6NI81|A6NLE0|B9ZVK6	Silent	SNP	ENST00000374111.3	37	c.228T>C	CCDS41521.1																																																																																				0.458	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		4	45	0	0	0	1	0	4	45					C	50902594	T	C	50902594	2	2	73	1	0	0	0	0	0	0	0	1	1606	1625	57	3		3	C10orf53	10	50902594	Silent	SNP	T	TCGA-DJ-A1QI-01A-11D-A14W-08		50902594	84632153	9	1368											
PCCA	5095	broad.mit.edu	37	13	100807310	100807310	+	Silent	SNP	C	C	G			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr13:100807310C>G	ENST00000376285.1	+	5	416	c.378C>G	c.(376-378)gcC>gcG	p.A126A	PCCA_ENST00000376279.3_Silent_p.A126A|PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376286.4_Silent_p.A100A	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	126	Biotin carboxylation.				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)	ACATGGATGCCATCATGGAAG	0.458																																						uc001voo.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(376-378)gcC>gcG		Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Biotin(DB00121)						115	112	113					13																	100807310		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.chr13:100807310C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.378C>G	13.37:g.100807310C>G			Somatic				PCCA_uc010aga.3_Silent_p.A100A|PCCA_uc010tiz.2_Silent_p.A126A	p.A126A	NM_000282	NP_000273	WXS	Illumina GAIIx	Phase_I	P05165	PCCA_HUMAN			4	484	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		126			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.378C>G	CCDS9496.2																																																																																				0.458	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			7	113	0	0	0	1	0	7	113					G	100807310	C	G	100807310	2	3	73	1	0	0	0	0	0	0	0	1	11504	581	21	4		4	PCCA	13	100807310	Silent	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08		100807310	14362568	10	1369											
FGF7	2252	broad.mit.edu	37	15	49776583	49776583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:49776583G>A	ENST00000267843.4	+	4	1078	c.467G>A	c.(466-468)tGg>tAg	p.W156*	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	156					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)			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)		TCAGCTAAATGGACACACAAC	0.348																																						uc001zxn.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(466-468)tGg>tAg		Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	Palifermin(DB00039)						54	52	53					15																	49776583		2034	3876	5910	SO:0001587	stop_gained	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.chr15:49776583G>A	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.467G>A	15.37:g.49776583G>A	ENSP00000267843:p.Trp156*		Somatic				C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	p.W156*	NM_002009	NP_002000	WXS	Illumina GAIIx	Phase_I	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	3	996	+		all_lung(180;0.00391)	156					H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	ENST00000267843.4	37	c.467G>A	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	G	37	6.034833	0.97221	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.9276	0.97108	0.0:0.0:1.0:0.0	.	.	.	.	X	156	.	ENSP00000267843:W156X	W	+	2	0	FGF7	47563875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.597000	0.98273	2.801000	0.96364	0.650000	0.86243	TGG		0.348	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	66	0	0	0	1	0	3	66					A	49776583	G	A	49776583	4	1	73	1	0	0	0	0	0	1	0	0	5857	1357	47	2	477	2	FGF7	15	49776583	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		49776583	52754809	11	1370											
IGF1R	3480	broad.mit.edu	37	15	99440012	99440012	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:99440012C>A	ENST00000268035.6	+	4	1591	c.980C>A	c.(979-981)cCt>cAt	p.P327H	IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.P327H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	327					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGTGAAGGTCCTTGCCCGAAG	0.393																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(979-981)cCt>cAt		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						99	89	92					15																	99440012		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99440012C>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.980C>A	15.37:g.99440012C>A	ENSP00000268035:p.Pro327His		Somatic				IGF1R_uc010urq.2_Missense_Mutation_p.P327H|IGF1R_uc010bon.3_Missense_Mutation_p.P327H|IGF1R_uc021sxi.1_5'Flank	p.P327H	NM_000875	NP_000866	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		3	1030	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		327					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.980C>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576812	0.65878	.	.	ENSG00000140443	ENST00000268035	D	0.97575	-4.44	5.79	5.79	0.91817	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000020	D	0.98305	0.9438	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.989	D;D	0.65773	0.938;0.929	D	0.98268	1.0502	10	0.49607	T	0.09	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	327;327	C9J5X1;P08069	.;IGF1R_HUMAN	H	327	ENSP00000268035:P327H	ENSP00000268035:P327H	P	+	2	0	IGF1R	97257535	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.983000	0.49345	2.733000	0.93635	0.655000	0.94253	CCT		0.393	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		3	40	0	0	0	1	0	3	40					A	99440012	C	A	99440012	3	1	73	1	0	0	0	0	1	0	0	0	7571	681	24	4	994	4	IGF1R	15	99440012	Missense_Mutation	SNP	C	TCGA-DJ-A1QI-01A-11D-A14W-08	49663429	99440012	3091380	12	1371											
GLG1	2734	broad.mit.edu	37	16	74640592	74640592	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr16:74640592delT	ENST00000422840.2	-	1	400	c.401delA	c.(400-402)aacfs	p.N134fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.N134fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.N134fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	134					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACCGCCAGGTTGTTGCTCCA	0.706																																						uc002fcx.3																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(400-402)aacfs		Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.							51	56	54					16																	74640592		2198	4300	6498	SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74640592delT		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.401delA	16.37:g.74640592delT	ENSP00000405984:p.Asn134fs		Somatic				GLG1_uc002fcw.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcy.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcz.4_5'UTR	p.N134fs	NM_012201	NP_036333	WXS	Illumina GAIIx	Phase_I	Q92896	GSLG1_HUMAN			0	451	-			134					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL	ENST00000422840.2	37	c.401delA	CCDS45527.1																																																																																				0.706	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		24	49						24	49	---	---	---	---	-	74640592	T	-	74640592	7	5	73	1	0	1	0	1	0	0	0	0	6436	1725	60	0	3322	0	GLG1	16	74640592	Frame_Shift_Del	DEL	T	TCGA-DJ-A1QI-01A-11D-A14W-08		74640592	15714161	13	1372											
BTBD17	388419	broad.mit.edu	37	17	72352829	72352829	+	Silent	SNP	G	G	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr17:72352829G>A	ENST00000375366.3	-	3	1530	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	468					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						TGTGGTATACGGGCTTGACGA	0.652																																						uc002jkn.2																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(1402-1404)ccC>ccT		Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.							83	78	80					17																	72352829		2203	4300	6503	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72352829G>A		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1404C>T	17.37:g.72352829G>A			Somatic					p.P468P	NM_001080466	NP_001073935	WXS	Illumina GAIIx	Phase_I	A6NE02	BTBDH_HUMAN			2	1404	-			468						Silent	SNP	ENST00000375366.3	37	c.1404C>T	CCDS32719.1																																																																																				0.652	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		3	38	0	0	0	1	0	3	38					A	72352829	G	A	72352829	2	1	73	1	0	0	0	0	0	0	0	1	1542	1103	39	1		1	BTBD17	17	72352829	Silent	SNP	G	TCGA-DJ-A1QI-01A-11D-A14W-08		72352829	8842381	14	1373											
SPANXN1	494118	broad.mit.edu	37	X	144329165	144329165	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chrX:144329165A>G	ENST00000370493.3	+	1	818	c.59A>G	c.(58-60)aAc>aGc	p.N20S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	20										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAATCCAACAATGAAAAT	0.448																																						uc004fcb.2																			0		p.S19F(1)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(58-60)aAc>aGc		Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.							234	201	212					X																	144329165		2203	4299	6502	SO:0001583	missense	494118							g.chrX:144329165A>G		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.59A>G	X.37:g.144329165A>G	ENSP00000359524:p.Asn20Ser		Somatic					p.N20S	NM_001009614	NP_001009614	WXS	Illumina GAIIx	Phase_I	Q5VSR9	SPXN1_HUMAN			0	59	+	Acute lymphoblastic leukemia(192;6.56e-05)		20						Missense_Mutation	SNP	ENST00000370493.3	37	c.59A>G	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	A	0.561	-0.845307	0.02671	.	.	ENSG00000203923	ENST00000370493	T	0.14516	2.5	.	.	.	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.26310	0.068	T	0.31943	-0.9925	6	0.87932	D	0	.	.	.	.	.	20	Q5VSR9	SPXN1_HUMAN	S	20	ENSP00000359524:N20S	ENSP00000359524:N20S	N	+	2	0	SPANXN1	144136857	0.002000	0.14202	0.216000	0.23742	0.220000	0.24768	0.318000	0.19504	0.046000	0.15833	0.046000	0.15203	AAC		0.448	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		4	188	0	0	0	1	0	4	188					G	144329165	A	G	144329165	3	3	73	1	0	0	0	0	1	0	0	0	14990	43	2	3	61	3	SPANXN1	23	144329165	Missense_Mutation	SNP	A	TCGA-DJ-A1QI-01A-11D-A14W-08		144329165	10941395	15	1374											
EDEM1	9695	broad.mit.edu	37	3	5255103	5255103	+	Missense_Mutation	SNP	C	C	T	rs183693683	byFrequency	TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:5255103C>T	ENST00000256497.4	+	11	1913	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	594					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCGGGAATTGCCATGGAAGGA	0.478													C|||	2	0.000399361	0	0.0029	5008	,	,		20006	0		0	False		,,,				2504	0					uc003bqi.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1780-1782)Cca>Tca		Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.							91	82	85					3																	5255103		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5255103C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1780C>T	3.37:g.5255103C>T	ENSP00000256497:p.Pro594Ser		Somatic					p.P594S	NM_014674	NP_055489	WXS	Illumina GAIIx	Phase_I	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	10	1912	+			594					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1780C>T	CCDS33686.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	11.12	1.544647	0.27563	.	.	ENSG00000134109	ENST00000256497	D	0.81996	-1.56	5.42	5.42	0.78866	.	0.445764	0.26927	N	0.021783	T	0.56031	0.1958	N	0.08118	0	0.35331	D	0.785656	B	0.13594	0.008	B	0.06405	0.002	T	0.61307	-0.7089	10	0.06625	T	0.88	-25.6372	12.5698	0.56331	0.0:0.9244:0.0:0.0756	.	594	Q92611	EDEM1_HUMAN	S	594	ENSP00000256497:P594S	ENSP00000256497:P594S	P	+	1	0	EDEM1	5230103	0.058000	0.20735	0.808000	0.32385	0.750000	0.42670	1.909000	0.39917	2.530000	0.85305	0.655000	0.94253	CCA		0.478	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		3	33	0	0	0	1	0	3	33					T	5255103	C	T	5255103	3	4	74	1	0	0	0	0	1	0	0	0	4911	739	26	2	1822	2	EDEM1	3	5255103	Missense_Mutation	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		5255103	192767327	1	1375											
RAD54L2	23132	broad.mit.edu	37	3	51675796	51675796	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:51675796G>C	ENST00000409535.2	+	14	2388	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	RAD54L2_ENST00000296477.3_Missense_Mutation_p.E449Q	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	755	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					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)		TCTCATCGAGGAATTCCTTGG	0.483																																						uc011bdt.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(2263-2265)Gaa>Caa		Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.							135	109	118					3																	51675796		2203	4298	6501	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51675796G>C	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2263G>C	3.37:g.51675796G>C	ENSP00000386520:p.Glu755Gln		Somatic				RAD54L2_uc003dbh.3_Missense_Mutation_p.E346Q|RAD54L2_uc011bdu.2_Missense_Mutation_p.E449Q|RAD54L2_uc003dbj.3_Missense_Mutation_p.E81Q	p.E755Q	NM_015106	NP_055921	WXS	Illumina GAIIx	Phase_I	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	13	2388	+			755			Helicase C-terminal.		Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.2263G>C	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.746006|2.746006	0.49151|0.49151	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	T;T|.	0.76839|.	-1.05;-1.05|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Helicase, C-terminal (2);|.	0.093439|.	0.64402|.	D|.	0.000001|.	T|T	0.53578|0.53578	0.1805|0.1805	N|N	0.17278|0.17278	0.47|0.47	0.49299|0.49299	D|D	0.999777|0.999777	B;B|.	0.18863|.	0.031;0.031|.	B;B|.	0.14023|.	0.01;0.01|.	T|T	0.45702|0.45702	-0.9243|-0.9243	10|5	0.34782|.	T|.	0.22|.	-22.2683|-22.2683	19.3906|19.3906	0.94581|0.94581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	755;346|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	Q|A	755;449|583	ENSP00000386520:E755Q;ENSP00000296477:E449Q|.	ENSP00000296477:E449Q|.	E|G	+|+	1|2	0|0	RAD54L2|RAD54L2	51650836|51650836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.564000|0.564000	0.35744|0.35744	7.879000|7.879000	0.87236|0.87236	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.483	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		2	8	0	0	0	1	0	2	8					C	51675796	G	C	51675796	3	2	74	1	0	0	0	0	1	0	0	0	12994	1175	41	4	2313	4	RAD54L2	3	51675796	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	46420693	51675796	146346634	2	1376											
SIDT1	54847	broad.mit.edu	37	3	113300224	113300224	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:113300224T>G	ENST00000264852.4	+	6	1406	c.680T>G	c.(679-681)cTc>cGc	p.L227R	SIDT1_ENST00000393830.3_Missense_Mutation_p.L227R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	227					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GTGTATGATCTCGACCACAAT	0.458																																						uc021xcn.1																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(679-681)cTc>cGc		Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.							192	150	165					3																	113300224		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113300224T>G	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.680T>G	3.37:g.113300224T>G	ENSP00000264852:p.Leu227Arg		Somatic				SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.L227R|SIDT1_uc011big.2_5'UTR	p.L227R	NM_017699	NP_060169	WXS	Illumina GAIIx	Phase_I	Q9NXL6	SIDT1_HUMAN			5	1331	+			227					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.680T>G	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457753	0.63401	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.24350	1.86;1.86	5.12	5.12	0.69794	.	0.000000	0.51477	D	0.000097	T	0.53690	0.1812	M	0.85197	2.74	0.52099	D	0.999944	D	0.89917	1.0	D	0.91635	0.999	T	0.56177	-0.8022	10	0.32370	T	0.25	-15.5368	14.1901	0.65633	0.0:0.0:0.0:1.0	.	227	Q9NXL6	SIDT1_HUMAN	R	227	ENSP00000264852:L227R;ENSP00000377416:L227R	ENSP00000264852:L227R	L	+	2	0	SIDT1	114782914	1.000000	0.71417	0.797000	0.32132	0.586000	0.36452	5.746000	0.68681	2.045000	0.60652	0.482000	0.46254	CTC		0.458	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		30	42	0	0	0	1	0	30	42					G	113300224	T	G	113300224	3	3	74	1	0	0	0	0	1	0	0	0	14302	1551	54	5	702	5	SIDT1	3	113300224	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08	61624428	113300224	84722206	3	1377											
SLITRK3	22865	broad.mit.edu	37	3	164906912	164906912	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr3:164906912G>C	ENST00000475390.1	-	2	2150	c.1707C>G	c.(1705-1707)gaC>gaG	p.D569E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D569E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	569	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						AGGGGACCAGGTCACAGGTGC	0.517										HNSCC(40;0.11)																												uc003fej.4																			0				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.(1705-1707)gaC>gaG		Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.							99	91	93					3																	164906912		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906912G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1707C>G	3.37:g.164906912G>C	ENSP00000420091:p.Asp569Glu	HNSCC(40;0.11)	Somatic				SLITRK3_uc003fek.3_Missense_Mutation_p.D569E|SLITRK3_uc021xgy.1_Missense_Mutation_p.D569E	p.D569E	NM_014926	NP_055741	WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			1	2151	-			569			LRRCT 2.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1707C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254251	0.22965	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52983	0.64;0.64	5.81	3.99	0.46301	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.40064	N	0.001194	T	0.43964	0.1271	L	0.58969	1.84	0.43084	D	0.99474	B	0.11235	0.004	B	0.12156	0.007	T	0.38735	-0.9647	10	0.56958	D	0.05	-17.5076	10.8945	0.47015	0.0677:0.2442:0.688:0.0	.	569	O94933	SLIK3_HUMAN	E	569	ENSP00000420091:D569E;ENSP00000241274:D569E	ENSP00000241274:D569E	D	-	3	2	SLITRK3	166389606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.717000	0.25851	0.884000	0.36064	0.655000	0.94253	GAC		0.517	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		19	33	0	0	0	1	0	19	33					C	164906912	G	C	164906912	3	2	74	1	0	0	0	0	1	0	0	0	14744	1252	44	4	1230	4	SLITRK3	3	164906912	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	51606688	164906912	33115518	4	1378											
C4orf21	55345	broad.mit.edu	37	4	113508691	113508691	+	Silent	SNP	C	C	T			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr4:113508691C>T	ENST00000505019.1	-	12	3647	c.3522G>A	c.(3520-3522)gaG>gaA	p.E1174E		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1174						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAGAAACAGCCTCAGCAAAGA	0.413																																						uc003iau.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3520-3522)gaG>gaA		Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.							188	199	195					4																	113508691		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113508691C>T																												ENST00000505019.1:c.3522G>A	4.37:g.113508691C>T			Somatic				C4orf21_uc003iav.3_Non-coding_Transcript	p.E1174E	NM_018392	NP_060862	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	11	3733	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.3522G>A																																																																																					0.413	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			77	145	0	0	0	1	0	77	145					T	113508691	C	T	113508691	2	4	74	1	0	0	0	0	0	0	0	1	2254	680	24	2		2	C4orf21	4	113508691	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		113508691	77645585	5	1379											
PCDHGC3	5098	broad.mit.edu	37	5	140857072	140857072	+	Silent	SNP	C	C	T			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr5:140857072C>T	ENST00000308177.3	+	1	1493	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTACGACGTTTACATTG	0.512																																						uc003lkv.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1387-1389)gaC>gaT		Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.							138	145	143					5																	140857072		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140857072C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1389C>T	5.37:g.140857072C>T			Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Silent_p.D463D|PCDHGC5_uc003lkw.2_Intron	p.D463D	NM_002588	NP_002579	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1504	+			460			Cadherin 5.		O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1389C>T	CCDS4261.1																																																																																				0.512	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		5	158	0	0	0	1	0	5	158					T	140857072	C	T	140857072	2	4	74	1	0	0	0	0	0	0	0	1	11569	535	19	1		1	PCDHGC3	5	140857072	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08		140857072	40058188	6	1380											
ATP10B	23120	broad.mit.edu	37	5	160047602	160047602	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr5:160047602T>C	ENST00000327245.5	-	15	3014	c.2168A>G	c.(2167-2169)gAt>gGt	p.D723G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	723					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCGGCCTCATCAGGGCTCTC	0.642																																						uc003lym.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2167-2169)gAt>gGt		Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.							33	38	36					5																	160047602		2095	4228	6323	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047602T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2168A>G	5.37:g.160047602T>C	ENSP00000313600:p.Asp723Gly		Somatic				ATP10B_uc010jit.1_Missense_Mutation_p.D40G|ATP10B_uc003lyn.3_Missense_Mutation_p.D281G	p.D723G	NM_025153	NP_079429	WXS	Illumina GAIIx	Phase_I	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	3015	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	723					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2168A>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606952	0.87157	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.78595	-1.19;-1.19	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91352	0.7272	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93771	0.7075	9	.	.	.	.	14.5725	0.68220	0.0:0.0:0.0:1.0	.	331;723	Q2YDW8;O94823	.;AT10B_HUMAN	G	723;331	ENSP00000313600:D723G;ENSP00000431081:D331G	.	D	-	2	0	ATP10B	159980180	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	7.888000	0.87302	2.042000	0.60477	0.533000	0.62120	GAT		0.642	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		6	39	0	0	0	1	0	6	39					C	160047602	T	C	160047602	3	2	74	1	0	0	0	0	1	0	0	0	1117	1435	50	3	2265	3	ATP10B	5	160047602	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08	19190530	160047602	20867658	7	1381											
WRN	7486	broad.mit.edu	37	8	31004953	31004953	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr8:31004953T>C	ENST00000298139.5	+	30	3782	c.3533T>C	c.(3532-3534)cTg>cCg	p.L1178P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1178	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CCAGCTATTCTGGCAACAAAC	0.343			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.4			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3532-3534)cTg>cCg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.							98	98	98					8																	31004953		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity	g.chr8:31004953T>C		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3533T>C	8.37:g.31004953T>C	ENSP00000298139:p.Leu1178Pro		Somatic				WRN_uc010lvk.3_Missense_Mutation_p.L645P	p.L1178P	NM_000553	NP_000544	WXS	Illumina GAIIx	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	29	4321	+		Breast(100;0.195)	1178			HRDC.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3533T>C	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764768	0.69878	.	.	ENSG00000165392	ENST00000298139	T	0.50001	0.76	4.97	4.97	0.65823	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.64402	D	0.000013	T	0.69922	0.3165	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.75300	-0.3366	10	0.87932	D	0	-8.2858	14.6037	0.68460	0.0:0.0:0.0:1.0	.	588;1178	Q59F09;Q14191	.;WRN_HUMAN	P	1178	ENSP00000298139:L1178P	ENSP00000298139:L1178P	L	+	2	0	WRN	31124495	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	6.143000	0.71756	1.990000	0.58119	0.533000	0.62120	CTG		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			21	32	0	0	0	1	0	21	32					C	31004953	T	C	31004953	3	2	74	1	0	0	0	0	1	0	0	0	17399	1580	55	3	3647	3	WRN	8	31004953	Missense_Mutation	SNP	T	TCGA-DJ-A1QL-01A-11D-A14W-08		31004953	115359069	8	1382											
C9orf72	203228	broad.mit.edu	37	9	27567087	27567087	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr9:27567087G>A	ENST00000380003.3	-	2	95	c.32C>T	c.(31-33)gCt>gTt	p.A11V	C9orf72_ENST00000379997.3_Missense_Mutation_p.A11V|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	11					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CTTGGCAACAGCTGGAGATGG	0.423																																						uc003zqq.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(31-33)gCt>gTt		Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.							69	66	67					9																	27567087		2203	4298	6501	SO:0001583	missense	203228							g.chr9:27567087G>A	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.32C>T	9.37:g.27567087G>A	ENSP00000369339:p.Ala11Val		Somatic				C9orf72_uc022bfa.1_Missense_Mutation_p.A11V|C9orf72_uc003zqr.1_Missense_Mutation_p.A11V	p.A11V	NM_018325	NP_060795	WXS	Illumina GAIIx	Phase_I	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	1	129	-		all_neural(11;7.57e-10)	11					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	c.32C>T	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222152	0.95139	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.52754	0.68;0.65;0.65	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.75484	0.986;0.909	T	0.51663	-0.8677	9	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	11;11	Q96LT7-2;Q96LT7	.;CI072_HUMAN	V	11	ENSP00000369339:A11V;ENSP00000369333:A11V;ENSP00000369331:A11V	.	A	-	2	0	C9orf72	27557087	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.420000	0.97426	2.840000	0.97914	0.655000	0.94253	GCT		0.423	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		22	30	0	0	0	1	0	22	30					A	27567087	G	A	27567087	3	1	74	1	0	0	0	0	1	0	0	0	2495	971	34	2	1457	2	C9orf72	9	27567087	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		27567087	113646344	9	1383											
TAF1L	138474	broad.mit.edu	37	9	32631455	32631455	+	Missense_Mutation	SNP	G	G	A	rs533523762	byFrequency	TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr9:32631455G>A	ENST00000242310.4	-	1	4212	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1375					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAACTCGCCGTTTCTTCTTT	0.458													G|||	2	0.000399361	0	0	5008	,	,		21262	0.002		0	False		,,,				2504	0					uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4123-4125)Cgg>Tgg		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							210	208	209					9																	32631455		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	g.chr9:32631455G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4123C>T	9.37:g.32631455G>A	ENSP00000418379:p.Arg1375Trp		Somatic				AX747113_uc003zrh.1_5'Flank	p.R1375W	NM_153809	NP_722516	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	4213	-			1375					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4123C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605499	0.66445	.	.	ENSG00000122728	ENST00000242310	T	0.10860	2.83	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.64170	1.965	0.49483	D	0.999799	D	0.71674	0.998	P	0.56916	0.809	T	0.01839	-1.1263	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1375	Q8IZX4	TAF1L_HUMAN	W	1375	ENSP00000418379:R1375W	ENSP00000418379:R1375W	R	-	1	2	TAF1L	32621455	1.000000	0.71417	0.976000	0.42696	0.811000	0.45836	2.826000	0.48104	0.507000	0.28148	0.195000	0.17529	CGG		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			87	141	0	0	0	1	0	87	141					A	32631455	G	A	32631455	3	1	74	1	0	0	0	0	1	0	0	0	15520	1144	40	1	1361	1	TAF1L	9	32631455	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	5064368	32631455	108581976	10	1384											
ECD	11319	broad.mit.edu	37	10	74896602	74896602	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr10:74896602A>T	ENST00000372979.4	-	13	1770	c.1564T>A	c.(1564-1566)Ttg>Atg	p.L522M	ECD_ENST00000430082.2_Missense_Mutation_p.L555M|ECD_ENST00000454759.2_Missense_Mutation_p.L479M	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	522					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCAAAGTCCAAGTCATCATCA	0.443																																						uc009xqx.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1663-1665)Ttg>Atg		Homo sapiens ecdysoneless homolog (Drosophila) (ECD), transcript variant 2, mRNA.							259	237	245					10																	74896602		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74896602A>T	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1564T>A	10.37:g.74896602A>T	ENSP00000362070:p.Leu522Met		Somatic				ECD_uc001jtn.3_Missense_Mutation_p.L522M|ECD_uc009xqy.3_Missense_Mutation_p.L479M|ECD_uc001jto.3_Missense_Mutation_p.L221M	p.L555M	NM_001135752	NP_001129224	WXS	Illumina GAIIx	Phase_I	O95905	SGT1_HUMAN			13	1906	-	Prostate(51;0.0119)		522					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.1663T>A	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.695902	0.48202	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.17213	2.29;2.29;2.29	5.55	-2.14	0.07123	.	1.053240	0.07383	N	0.887747	T	0.29652	0.0740	L	0.42245	1.32	0.22601	N	0.998942	P;D;P	0.56746	0.901;0.977;0.841	P;P;P	0.57620	0.824;0.78;0.78	T	0.50440	-0.8828	10	0.42905	T	0.14	-12.7862	17.1429	0.86758	0.2696:0.7303:0.0:0.0	.	479;555;522	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	M	522;555;479	ENSP00000362070:L522M;ENSP00000401566:L555M;ENSP00000395786:L479M	ENSP00000362070:L522M	L	-	1	2	ECD	74566608	0.050000	0.20438	0.985000	0.45067	0.835000	0.47333	-0.226000	0.09139	-0.242000	0.09667	0.533000	0.62120	TTG		0.443	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		5	165	0	0	0	1	0	5	165					T	74896602	A	T	74896602	3	4	74	1	0	0	0	0	1	0	0	0	4888	69	3	5	378	5	ECD	10	74896602	Missense_Mutation	SNP	A	TCGA-DJ-A1QL-01A-11D-A14W-08		74896602	60638145	11	1385											
GALNTL4	374378	broad.mit.edu	37	11	11400737	11400737	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:11400737G>T	ENST00000227756.4	-	4	1081	c.670C>A	c.(670-672)Cgt>Agt	p.R224S		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	224	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TTGCTGTGACGCACGACTTTG	0.567																																						uc001mjo.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(670-672)Cgt>Agt		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.							152	124	133					11																	11400737		2201	4294	6495	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11400737G>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.670C>A	11.37:g.11400737G>T	ENSP00000227756:p.Arg224Ser		Somatic					p.R224S	NM_198516	NP_940918	WXS	Illumina GAIIx	Phase_I	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	3	1091	-			224			Catalytic subdomain A.		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.670C>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517763	0.85495	.	.	ENSG00000110328	ENST00000227756	T	0.64260	-0.09	5.98	5.98	0.97165	Glycosyl transferase, family 2 (1);	0.202272	0.41605	D	0.000858	D	0.83248	0.5213	M	0.88310	2.945	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.85391	0.1125	10	0.87932	D	0	.	19.0102	0.92870	0.0:0.0:1.0:0.0	.	224	Q6P9A2	GLTL4_HUMAN	S	224	ENSP00000227756:R224S	ENSP00000227756:R224S	R	-	1	0	GALNTL4	11357313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.786000	0.99046	2.838000	0.97847	0.514000	0.50259	CGT		0.567	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		18	39	0	0	0	1	0	18	39					T	11400737	G	T	11400737	3	4	74	1	0	0	0	0	1	0	0	0	6223	1087	38	4	1185	4	GALNTL4	11	11400737	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		11400737	123605779	12	1386											
SLC22A11	55867	broad.mit.edu	37	11	64326627	64326627	+	Silent	SNP	C	C	T			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:64326627C>T	ENST00000301891.4	+	2	788	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SLC22A11_ENST00000377585.3_Silent_p.S138S|SLC22A11_ENST00000377581.3_Silent_p.S138S|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	138					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TGTGCAGCTCCCAGGGCTTGA	0.637																																						uc001oai.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(412-414)tcC>tcT		Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	Probenecid(DB01032)						122	110	114					11																	64326627		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64326627C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.414C>T	11.37:g.64326627C>T			Somatic				SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.S138S|SLC22A11_uc001oak.1_5'Flank	p.S138S	NM_018484	NP_060954	WXS	Illumina GAIIx	Phase_I	Q9NSA0	S22AB_HUMAN			1	788	+			138					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.414C>T	CCDS8074.1																																																																																				0.637	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		33	60	0	0	0	1	0	33	60					T	64326627	C	T	64326627	2	4	74	1	0	0	0	0	0	0	0	1	14442	610	22	2		2	SLC22A11	11	64326627	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08	52925890	64326627	70679889	13	1387											
USP28	57646	broad.mit.edu	37	11	113705033	113705033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr11:113705033G>A	ENST00000003302.4	-	6	627	c.559C>T	c.(559-561)Cga>Tga	p.R187*	USP28_ENST00000537706.1_Nonsense_Mutation_p.R187*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Nonsense_Mutation_p.R62*|USP28_ENST00000260188.5_Nonsense_Mutation_p.R187*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	187	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R187*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAAGTCTTCGAAATTCAGGC	0.343																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.3																			1	Substitution - Nonsense(1)	p.R187*(2)	skin(1)	breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(559-561)Cga>Tga		Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.							104	95	98					11																	113705033		2201	4296	6497	SO:0001587	stop_gained	57646				DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113705033G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.559C>T	11.37:g.113705033G>A	ENSP00000003302:p.Arg187*		Somatic				USP28_uc010rwy.2_Nonsense_Mutation_p.R62*|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.R187*|USP28_uc010rwz.1_Nonsense_Mutation_p.R187*	p.R187*	NM_020886	NP_065937	WXS	Illumina GAIIx	Phase_I	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	592	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	187					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.559C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	38	7.006134	0.97998	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706	.	.	.	5.08	5.08	0.68730	.	0.063315	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6665	17.4468	0.87580	0.0:0.0:1.0:0.0	.	.	.	.	X	187;187;62;187	.	ENSP00000003302:R187X	R	-	1	2	USP28	113210243	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.022000	0.70839	2.357000	0.79964	0.460000	0.39030	CGA		0.343	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			16	35	0	0	0	1	0	16	35					A	113705033	G	A	113705033	4	1	74	1	0	0	0	0	0	1	0	0	17055	1066	37	1	2754	1	USP28	11	113705033	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08	49378406	113705033	21301483	14	1388											
HS3ST4	9951	broad.mit.edu	37	16	26147154	26147154	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr16:26147154G>A	ENST00000331351.5	+	2	1348	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	319					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTCAAAAACCGGACCCTCGGG	0.552																																						uc002dof.3																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(955-957)cGg>cAg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.							175	166	169					16																	26147154		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147154G>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.956G>A	16.37:g.26147154G>A	ENSP00000330606:p.Arg319Gln		Somatic					p.R319Q	NM_006040	NP_006031	WXS	Illumina GAIIx	Phase_I	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	1	1348	+			319					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.956G>A	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977846	0.74360	.	.	ENSG00000182601	ENST00000331351	T	0.55052	0.54	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000011	T	0.42154	0.1190	L	0.42686	1.345	0.58432	D	0.999998	P	0.48998	0.918	B	0.32583	0.148	T	0.46076	-0.9217	10	0.38643	T	0.18	.	18.0433	0.89325	0.0:0.0:1.0:0.0	.	319	Q9Y661	HS3S4_HUMAN	Q	319	ENSP00000330606:R319Q	ENSP00000330606:R319Q	R	+	2	0	HS3ST4	26054655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.823000	0.99369	2.491000	0.84063	0.655000	0.94253	CGG		0.552	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		81	105	0	0	0	1	0	81	105					A	26147154	G	A	26147154	3	1	74	1	0	0	0	0	1	0	0	0	7367	1116	39	1	962	1	HS3ST4	16	26147154	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		26147154	64207599	15	1389											
PPM1D	8493	broad.mit.edu	37	17	58740528	58740549	+	Frame_Shift_Del	DEL	GCGCTAAAGCCCTGACTTTAAG	GCGCTAAAGCCCTGACTTTAAG	-	rs142406693|rs146477590	byFrequency	TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr17:58740528_58740549delGCGCTAAAGCCCTGACTTTAAG	ENST00000305921.3	+	6	1665_1686	c.1433_1454delGCGCTAAAGCCCTGACTTTAAG	c.(1432-1455)tgcgctaaagccctgactttaaggfs	p.CAKALTLR478fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	478					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.A481V(1)|p.C478C(1)|p.C478*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAAGAAAATTGCGCTAAAGCCCTGACTTTAAGGATACATGAT	0.387											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)	p.A481V(2)|p.C478C(2)|p.C478*(2)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1432-1455)tgcgctaaagccctgactttaaggfs		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740528_58740549delGCGCTAAAGCCCTGACTTTAAG	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1433_1454delGCGCTAAAGCCCTGACTTTAAG	17.37:g.58740528_58740549delGCGCTAAAGCCCTGACTTTAAG	ENSP00000306682:p.Cys478fs		Somatic	OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.C478fs	NM_003620	NP_003611	WXS	Illumina GAIIx	Phase_I	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1665_1686	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		478					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1433_1454delGCGCTAAAGCCCTGACTTTAAG	CCDS11625.1																																																																																				0.387	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		5	114						5	114	---	---	---	---	-	58740549	GCGCTAAAGCCCTGACTTTAAG	-	58740528	7	5	74	1	0	1	0	1	0	0	0	0	12337	1319	46	0	1455	0	PPM1D	17	58740528	Frame_Shift_Del	DEL	GCGCTAAAGCCCTGACTTTAAG	TCGA-DJ-A1QL-01A-11D-A14W-08		58740528	22454682	16	1390											
MUC16	94025	broad.mit.edu	37	19	9070335	9070335	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr19:9070335G>A	ENST00000397910.4	-	3	17314	c.17111C>T	c.(17110-17112)aCt>aTt	p.T5704I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5706	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						TGTGTGCGCAGTGTCTTTGTA	0.502																																						uc002mkp.3																			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.(17110-17112)aCt>aTt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							167	163	164					19																	9070335		2093	4212	6305	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070335G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17111C>T	19.37:g.9070335G>A	ENSP00000381008:p.Thr5704Ile		Somatic					p.T5704I	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	17315	-			5706			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17111C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.060	0.196782	0.09599	.	.	ENSG00000181143	ENST00000397910	T	0.27890	1.64	1.54	1.54	0.23209	.	.	.	.	.	T	0.23410	0.0566	N	0.19112	0.55	.	.	.	D	0.62365	0.991	P	0.48840	0.592	T	0.26883	-1.0090	8	0.87932	D	0	.	6.5715	0.22541	0.0:0.0:1.0:0.0	.	5704	B5ME49	.	I	5704	ENSP00000381008:T5704I	ENSP00000381008:T5704I	T	-	2	0	MUC16	8931335	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.347000	0.20014	1.176000	0.42840	0.456000	0.33151	ACT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	70	0	0	0	1	0	6	70					A	9070335	G	A	9070335	3	1	74	1	0	0	0	0	1	0	0	0	9973	1029	36	2	26740	2	MUC16	19	9070335	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		9070335	50058648	17	1391											
PYGB	5834	broad.mit.edu	37	20	25257360	25257360	+	Missense_Mutation	SNP	G	G	A	rs200914374		TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr20:25257360G>A	ENST00000216962.4	+	6	849	c.739G>A	c.(739-741)Gcc>Acc	p.A247T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	247					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCTGTGGTCCGCCAAGGCTCC	0.617																																						uc002wup.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(739-741)Gcc>Acc		Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	Pyridoxal Phosphate(DB00114)	G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	139	94	109		739	3.5	1.0	20		109	0,8600		0,0,4300	no	missense	PYGB	NM_002862.3	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	247/844	25257360	2,13004	2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25257360G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.739G>A	20.37:g.25257360G>A	ENSP00000216962:p.Ala247Thr		Somatic					p.A247T	NM_002862	NP_002853	WXS	Illumina GAIIx	Phase_I	P11216	PYGB_HUMAN			5	848	+			247					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.739G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077262	0.94000	4.54E-4	0.0	ENSG00000100994	ENST00000216962	D	0.94862	-3.54	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.97049	0.9036	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97802	1.0245	10	0.87932	D	0	-25.5524	15.1631	0.72801	0.0:0.0:1.0:0.0	.	247	P11216	PYGB_HUMAN	T	247	ENSP00000216962:A247T	ENSP00000216962:A247T	A	+	1	0	PYGB	25205360	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.492000	0.97957	1.974000	0.57490	0.557000	0.71058	GCC		0.617	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		3	32	0	0	0	1	0	3	32					A	25257360	G	A	25257360	3	1	74	1	0	0	0	0	1	0	0	0	12860	1087	38	1	761	1	PYGB	20	25257360	Missense_Mutation	SNP	G	TCGA-DJ-A1QL-01A-11D-A14W-08		25257360	37768160	18	1392											
SEMG1	6406	broad.mit.edu	37	20	43836652	43836652	+	Silent	SNP	C	C	T			TCGA-DJ-A1QL-01A-11D-A14W-08	TCGA-DJ-A1QL-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79169c46-7049-4576-9885-63973db76ab9	d6ea054f-372b-4fc7-a9f4-c61f74f8f1ee	g.chr20:43836652C>T	ENST00000372781.3	+	2	771	c.714C>T	c.(712-714)ctC>ctT	p.L238L	SEMG1_ENST00000244069.6_Silent_p.L238L	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	238	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAACCTCACTCTGTCCTGCGC	0.378																																						uc002xni.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(712-714)ctC>ctT		Homo sapiens semenogelin I (SEMG1), mRNA.							114	99	104					20																	43836652		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836652C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.714C>T	20.37:g.43836652C>T			Somatic				SEMG2_uc002xnj.2_Silent_p.L238L|SEMG2_uc010ggz.3_Intron	p.L238L	NM_003007	NP_002998	WXS	Illumina GAIIx	Phase_I	Q02383	SEMG2_HUMAN			1	771	+		Myeloproliferative disorder(115;0.0122)	238			Repeat-rich region.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.714C>T	CCDS13345.1																																																																																				0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		6	131	0	0	0	1	0	6	131					T	43836652	C	T	43836652	2	4	74	1	0	0	0	0	0	0	0	1	14044	900	32	2		2	SEMG1	20	43836652	Silent	SNP	C	TCGA-DJ-A1QL-01A-11D-A14W-08	18579292	43836652	19188868	19	1393											
WDTC1	23038	broad.mit.edu	37	1	27620562	27620562	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr1:27620562C>T	ENST00000319394.3	+	8	1247	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	WDTC1_ENST00000361771.3_Missense_Mutation_p.R238W	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	238					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTTCTGTGACCGGCAGAAACC	0.547																																						uc009vst.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(712-714)Cgg>Tgg		Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.							84	78	80					1																	27620562		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27620562C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.712C>T	1.37:g.27620562C>T	ENSP00000317971:p.Arg238Trp		Somatic				WDTC1_uc001bno.3_Missense_Mutation_p.R238W|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	p.R238W	NM_015023	NP_055838	WXS	Illumina GAIIx	Phase_I	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	7	1247	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	238					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.712C>T		.	.	.	.	.	.	.	.	.	.	C	17.94	3.512474	0.64522	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.81415	-1.49;-1.49	5.16	4.23	0.50019	WD40 repeat-like-containing domain (1);	0.056459	0.64402	D	0.000002	T	0.73845	0.3639	L	0.46157	1.445	0.58432	D	0.999992	D;D	0.60575	0.979;0.988	B;B	0.40741	0.183;0.339	T	0.74349	-0.3694	10	0.37606	T	0.19	.	14.0717	0.64863	0.1516:0.8484:0.0:0.0	.	238;238	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	W	238	ENSP00000317971:R238W;ENSP00000355317:R238W	ENSP00000317971:R238W	R	+	1	2	WDTC1	27493149	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	1.439000	0.35013	1.363000	0.46019	0.655000	0.94253	CGG		0.547	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		5	62	0	0	0	1	0	5	62					T	27620562	C	T	27620562	3	4	75	1	0	0	0	0	1	0	0	0	17339	643	23	1	738	1	WDTC1	1	27620562	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		27620562	221630059	1	1394											
SLC25A12	8604	broad.mit.edu	37	2	172641902	172641902	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr2:172641902C>T	ENST00000422440.2	-	18	1956	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R533K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	640					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)	TGTGGCGAGTCTGTATCCACC	0.488																																						uc002uhh.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1918-1920)aGa>aAa		Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	L-Aspartic Acid(DB00128)						180	166	171					2																	172641902		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding	g.chr2:172641902C>T	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1919G>A	2.37:g.172641902C>T	ENSP00000388658:p.Arg640Lys		Somatic				SLC25A12_uc010fqh.2_Missense_Mutation_p.R533K	p.R640K	NM_003705	NP_003696	WXS	Illumina GAIIx	Phase_I	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		17	2008	-			640					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1919G>A	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819125	0.32145	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78126	-1.15;-1.12	6.02	5.15	0.70609	.	0.044849	0.85682	D	0.000000	T	0.68421	0.2999	L	0.33485	1.01	0.47621	D	0.999472	B;B	0.11235	0.004;0.004	B;B	0.15052	0.012;0.012	T	0.62397	-0.6863	10	0.21540	T	0.41	-17.1071	15.4976	0.75666	0.0:0.9337:0.0:0.0663	.	533;640	B3KR64;O75746	.;CMC1_HUMAN	K	640;533	ENSP00000388658:R640K;ENSP00000376371:R533K	ENSP00000376371:R533K	R	-	2	0	SLC25A12	172350148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.298000	0.51818	1.548000	0.49413	0.650000	0.86243	AGA		0.488	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		7	93	0	0	0	1	0	7	93					T	172641902	C	T	172641902	3	4	75	1	0	0	0	0	1	0	0	0	14474	913	32	2	121	2	SLC25A12	2	172641902	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		172641902	70557471	2	1395											
STAB1	23166	broad.mit.edu	37	3	52539151	52539151	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:52539151G>A	ENST00000321725.6	+	13	1586	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	504					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)		GACCCCTGGGGATCCCAAGGT	0.612																																						uc003dej.3																			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.(1510-1512)Gat>Aat		Homo sapiens stabilin 1 (STAB1), mRNA.							59	67	64					3																	52539151		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.chr3:52539151G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1510G>A	3.37:g.52539151G>A	ENSP00000312946:p.Asp504Asn		Somatic				STAB1_uc003dei.1_Missense_Mutation_p.D504N	p.D504N	NM_015136	NP_055951	WXS	Illumina GAIIx	Phase_I	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)	12	1584	+			504					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1510G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	8.985	0.976323	0.18736	.	.	ENSG00000010327	ENST00000321725	D	0.85013	-1.93	5.46	5.46	0.80206	FAS1 domain (1);	0.237542	0.36134	N	0.002775	T	0.70876	0.3274	N	0.17082	0.46	0.35803	D	0.823255	B;B	0.26902	0.163;0.009	B;B	0.19666	0.026;0.016	T	0.68965	-0.5270	10	0.02654	T	1	.	14.8512	0.70297	0.0:0.0:1.0:0.0	.	504;504	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	N	504	ENSP00000312946:D504N	ENSP00000312946:D504N	D	+	1	0	STAB1	52514191	0.925000	0.31364	0.977000	0.42913	0.686000	0.39977	1.690000	0.37711	2.582000	0.87167	0.650000	0.86243	GAT		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		7	82	0	0	0	1	0	7	82					A	52539151	G	A	52539151	3	1	75	1	0	0	0	0	1	0	0	0	15236	1174	41	2	1560	2	STAB1	3	52539151	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		52539151	145483279	3	1396											
PDE12	201626	broad.mit.edu	37	3	57543396	57543396	+	Silent	SNP	G	G	A	rs140975906		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr3:57543396G>A	ENST00000311180.8	+	1	1393	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	PDE12_ENST00000487257.1_Silent_p.Q430Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	430					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGCTCCAGAGATCTTCTG	0.498																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1288-1290)caG>caA		Homo sapiens phosphodiesterase 12 (PDE12), mRNA.							54	56	56					3																	57543396		2203	4300	6503	SO:0001819	synonymous_variant	201626						hydrolase activity	g.chr3:57543396G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1290G>A	3.37:g.57543396G>A			Somatic				PDE12_uc003div.3_Silent_p.Q430Q	p.Q430Q	NM_177966	NP_808881	WXS	Illumina GAIIx	Phase_I	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	0	1416	+			430					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	c.1290G>A	CCDS33772.1																																																																																				0.498	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		4	52	0	0	0	1	0	4	52					A	57543396	G	A	57543396	2	1	75	1	0	0	0	0	0	0	0	1	11632	933	33	2		2	PDE12	3	57543396	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08	5004245	57543396	140479034	4	1397											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	76	0	0	0	1	0	10	76					T	140453136	A	T	140453136	3	4	75	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QM-01A-11D-A14W-08		140453136	18685527	5	1398											
SORBS3	10174	broad.mit.edu	37	8	22428458	22428458	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:22428458G>C	ENST00000240123.7	+	18	1850	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D	SORBS3_ENST00000428103.1_Missense_Mutation_p.E147D|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	489	Binds to vinculin.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGTGAACGAGAACTGGTACG	0.627																																						uc003xbv.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1465-1467)gaG>gaC		Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.							100	77	85					8																	22428458		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22428458G>C		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1467G>C	8.37:g.22428458G>C	ENSP00000240123:p.Glu489Asp		Somatic				SORBS3_uc003xbw.4_Missense_Mutation_p.E147D	p.E489D	NM_005775	NP_005766	WXS	Illumina GAIIx	Phase_I	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	17	1807	+		Prostate(55;0.0421)|Breast(100;0.102)	489			Binds to vinculin.|SH3 2.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.1467G>C	CCDS6031.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.06|14.06|14.06	2.422841|2.422841|2.422841	0.43020|0.43020|0.43020	.|.|.	.|.|.	ENSG00000120896|ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000523965;ENST00000523348|ENST00000521554|ENST00000517962	T;T;T;T;T|T|.	0.26957|0.32515|.	1.7;1.7;1.7;1.7;1.7|1.45|.	5.39|5.39|5.39	3.22|3.22|3.22	0.36961|0.36961|0.36961	Src homology-3 domain (4);|.|.	0.147133|0.147133|.	0.30969|0.30969|.	N|N|.	0.008518|0.008518|.	T|T|T	0.20251|0.20251|0.20251	0.0487|0.0487|0.0487	N|N|N	0.11870|0.11870|0.11870	0.19|0.19|0.19	0.28337|0.28337|0.28337	N|N|N	0.92152|0.92152|0.92152	B|.|.	0.24651|.|.	0.108|.|.	B|.|.	0.28849|.|.	0.095|.|.	T|T|T	0.18147|0.18147|0.18147	-1.0346|-1.0346|-1.0346	10|8|5	0.52906|0.19147|.	T|T|.	0.07|0.46|.	-26.7168|-26.7168|-26.7168	7.1055|7.1055|7.1055	0.25360|0.25360|0.25360	0.2945:0.0:0.7055:0.0|0.2945:0.0:0.7055:0.0|0.2945:0.0:0.7055:0.0	.|.|.	489|.|.	O60504|.|.	VINEX_HUMAN|.|.	D|Q|T	489;147;147;147;100|161|1	ENSP00000240123:E489D;ENSP00000431128:E147D;ENSP00000408476:E147D;ENSP00000429764:E147D;ENSP00000428678:E100D|ENSP00000429058:E161Q|.	ENSP00000240123:E489D|ENSP00000429058:E161Q|.	E|E|R	+|+|+	3|1|2	2|0|0	SORBS3|SORBS3|SORBS3	22484403|22484403|22484403	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	0.095000|0.095000|0.095000	0.15127|0.15127|0.15127	1.234000|1.234000|1.234000	0.43709|0.43709|0.43709	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GAA|AGA		0.627	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		8	55	0	0	0	1	0	8	55					C	22428458	G	C	22428458	3	2	75	1	0	0	0	0	1	0	0	0	14929	933	33	4	1533	4	SORBS3	8	22428458	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		22428458	123935564	6	1399											
ZFAT	57623	broad.mit.edu	37	8	135649756	135649756	+	Silent	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr8:135649756C>T	ENST00000377838.3	-	3	570	c.396G>A	c.(394-396)cgG>cgA	p.R132R	ZFAT_ENST00000523399.1_Silent_p.R132R|ZFAT_ENST00000520356.1_Silent_p.R120R|ZFAT_ENST00000520727.1_Silent_p.R120R|ZFAT_ENST00000429442.2_Silent_p.R120R|ZFAT_ENST00000520214.1_Silent_p.R120R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	132					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGATGTGCTTCCGCAGCTGGC	0.542																																						uc003yup.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(394-396)cgG>cgA		Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.							90	96	94					8																	135649756		2120	4230	6350	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649756C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.396G>A	8.37:g.135649756C>T			Somatic				ZFAT_uc003yun.3_Silent_p.R120R|ZFAT_uc003yuo.3_Silent_p.R120R|ZFAT_uc010meh.3_Silent_p.R120R|ZFAT_uc010mej.3_Silent_p.R132R|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.R120R|ZFAT_uc003yur.3_Silent_p.R120R	p.R132R	NM_020863	NP_001161055	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		2	582	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		132					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.396G>A	CCDS47924.1																																																																																				0.542	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	50	0	0	0	1	0	4	50					T	135649756	C	T	135649756	2	4	75	1	0	0	0	0	0	0	0	1	17629	842	30	2		2	ZFAT	8	135649756	Silent	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08	113221298	135649756	10714266	7	1400											
PCSK7	9159	broad.mit.edu	37	11	117090319	117090319	+	Silent	SNP	G	G	A			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr11:117090319G>A	ENST00000320934.3	-	10	1941	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	PCSK7_ENST00000540028.1_Silent_p.F78F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	437	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)		GGGTGGCTGTGAAGACAATGA	0.592			T	IGH@	MLCLS																																	uc001pqr.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1309-1311)ttC>ttT		Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.							60	46	51					11																	117090319		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090319G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1311C>T	11.37:g.117090319G>A			Somatic					p.F437F	NM_004716	NP_004707	WXS	Illumina GAIIx	Phase_I	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	9	1512	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	437			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1311C>T	CCDS8382.1																																																																																				0.592	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		3	28	0	0	0	1	0	3	28					A	117090319	G	A	117090319	2	1	75	1	0	0	0	0	0	0	0	1	11605	1281	45	2		2	PCSK7	11	117090319	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		117090319	17916197	8	1401											
ABCA3	21	broad.mit.edu	37	16	2373655	2373655	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr16:2373655C>T	ENST00000301732.5	-	7	1182	c.482G>A	c.(481-483)aGa>aAa	p.R161K	ABCA3_ENST00000567910.1_Missense_Mutation_p.R161K|ABCA3_ENST00000382381.3_Missense_Mutation_p.R161K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	161					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)	CATGTAATTTCTCCGTGTGTA	0.493																																						uc002cpy.1																			0		p.R160W(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						c.(481-483)aGa>aAa		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.							248	278	268					16																	2373655		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.chr16:2373655C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.482G>A	16.37:g.2373655C>T	ENSP00000301732:p.Arg161Lys		Somatic				ABCA3_uc010bsk.1_Missense_Mutation_p.R161K|ABCA3_uc010bsl.1_Missense_Mutation_p.R161K|ABCA3_uc002cpz.1_Missense_Mutation_p.R161K	p.R161K	NM_001089	NP_001080	WXS	Illumina GAIIx	Phase_I	Q99758	ABCA3_HUMAN			6	1194	-		Ovarian(90;0.17)	161					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.482G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159023	0.38119	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.97232	-4.3	5.43	4.41	0.53225	.	0.105632	0.64402	D	0.000006	D	0.96090	0.8726	M	0.63169	1.94	0.36681	D	0.879056	B;B;B;B	0.27316	0.071;0.045;0.005;0.175	B;B;B;B	0.37304	0.168;0.072;0.013;0.246	D	0.95548	0.8618	10	0.38643	T	0.18	.	13.1742	0.59617	0.0:0.9118:0.0:0.0882	.	161;223;161;161	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	K	161;223	ENSP00000301732:R161K	ENSP00000301732:R161K	R	-	2	0	ABCA3	2313656	0.790000	0.28787	0.447000	0.26932	0.726000	0.41606	3.375000	0.52410	2.824000	0.97209	0.655000	0.94253	AGA		0.493	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		11	422	0	0	0	1	0	11	422					T	2373655	C	T	2373655	3	4	75	1	0	0	0	0	1	0	0	0	33	913	32	2	4740	2	ABCA3	16	2373655	Missense_Mutation	SNP	C	TCGA-DJ-A1QM-01A-11D-A14W-08		2373655	87981098	9	1402											
C17orf46	124783	broad.mit.edu	37	17	43331805	43331805	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chr17:43331805G>C	ENST00000331780.4	-	5	1238	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.I360M|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	381					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											ATTTCTCTGGGATTGTGGGGG	0.507																																						uc002iis.1																			0											c.(1141-1143)atC>atG		Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.							137	145	142					17																	43331805		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43331805G>C	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.1143C>G	17.37:g.43331805G>C	ENSP00000331532:p.Ile381Met		Somatic				LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.I360M	p.I381M	NM_152343	NP_689556	WXS	Illumina GAIIx	Phase_I	Q96LK8	CQ046_HUMAN			4	1239	-			381					Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.1143C>G	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144319	0.21205	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.44083	0.93;0.93	4.77	2.79	0.32731	.	0.924044	0.08992	N	0.864247	T	0.22742	0.0549	N	0.08118	0	0.19300	N	0.999978	P	0.36249	0.545	B	0.34931	0.192	T	0.13522	-1.0506	10	0.46703	T	0.11	-7.4376	6.8899	0.24224	0.2067:0.0:0.7933:0.0	.	381	Q96LK8	CQ046_HUMAN	M	381;360	ENSP00000331532:I381M;ENSP00000442724:I360M	ENSP00000331532:I381M	I	-	3	3	C17orf46	40687588	0.988000	0.35896	0.708000	0.30435	0.499000	0.33736	1.854000	0.39368	0.610000	0.30035	0.609000	0.83330	ATC		0.507	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		8	140	0	0	0	1	0	8	140					C	43331805	G	C	43331805	3	2	75	1	0	0	0	0	1	0	0	0	1857	1164	41	4	15	4	C17orf46	17	43331805	Missense_Mutation	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08		43331805	37863405	10	1403											
CTPS2	56474	broad.mit.edu	37	X	16720901	16720901	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720901T>C	ENST00000443824.1	-	2	868	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	CTPS2_ENST00000380241.3_Missense_Mutation_p.Y42C|CTPS2_ENST00000359276.4_Missense_Mutation_p.Y42C	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	42					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GATGTTAATATAGGGGTCGAT	0.448																																						uc004cxk.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(124-126)tAt>tGt		Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.							228	193	205					X																	16720901		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720901T>C	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.125A>G	X.37:g.16720901T>C	ENSP00000401264:p.Tyr42Cys		Somatic				CTPS2_uc004cxl.3_Missense_Mutation_p.Y42C|CTPS2_uc004cxm.3_Missense_Mutation_p.Y42C	p.Y42C	NM_001144002	NP_787055	WXS	Illumina GAIIx	Phase_I	Q9NRF8	PYRG2_HUMAN			1	869	-	Hepatocellular(33;0.0997)		42					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.125A>G	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618590	0.46736	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	T;T;T	0.65732	-0.17;-0.17;-0.17	5.33	5.33	0.75918	CTP synthase, N-terminal (1);	0.000000	0.56097	D	0.000040	D	0.87845	0.6280	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92725	0.6195	10	0.87932	D	0	-12.5928	14.4973	0.67698	0.0:0.0:0.0:1.0	.	42	Q9NRF8	PYRG2_HUMAN	C	42	ENSP00000401264:Y42C;ENSP00000369590:Y42C;ENSP00000352222:Y42C	ENSP00000352222:Y42C	Y	-	2	0	CTPS2	16630822	1.000000	0.71417	0.121000	0.21740	0.071000	0.16799	5.909000	0.69923	1.802000	0.52723	0.427000	0.28365	TAT		0.448	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		6	74	0	0	0	1	0	6	74					C	16720901	T	C	16720901	3	2	75	1	0	0	0	0	1	0	0	0	4023	1406	49	3	1703	3	CTPS2	23	16720901	Missense_Mutation	SNP	T	TCGA-DJ-A1QM-01A-11D-A14W-08		16720901	138549659	11	1404	1	2									
CTPS2	56474	broad.mit.edu	37	X	16720909	16720909	+	Silent	SNP	G	G	A			TCGA-DJ-A1QM-01A-11D-A14W-08	TCGA-DJ-A1QM-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78d419c4-d242-4240-882b-cd6b7fd46b5e	b9eed02e-175a-4e22-91d2-78ad9b5ccd0c	g.chrX:16720909G>A	ENST00000443824.1	-	2	860	c.117C>T	c.(115-117)atC>atT	p.I39I	CTPS2_ENST00000380241.3_Silent_p.I39I|CTPS2_ENST00000359276.4_Silent_p.I39I	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	39					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATAGGGGTCGATTTTTATGG	0.458													G|||	1	0.000264901	0	0	3775	,	,		13391	0		0	False		,,,				2504	0.001					uc004cxk.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(115-117)atC>atT		Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.							224	190	201					X																	16720909		2203	4300	6503	SO:0001819	synonymous_variant	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720909G>A	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.117C>T	X.37:g.16720909G>A			Somatic				CTPS2_uc004cxl.3_Silent_p.I39I|CTPS2_uc004cxm.3_Silent_p.I39I	p.I39I	NM_001144002	NP_787055	WXS	Illumina GAIIx	Phase_I	Q9NRF8	PYRG2_HUMAN			1	861	-	Hepatocellular(33;0.0997)		39					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	c.117C>T	CCDS14175.1																																																																																				0.458	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		5	71	0	0	0	1	0	5	71					A	16720909	G	A	16720909	2	1	75	1	0	0	0	0	0	0	0	1	4023	1048	37	1		1	CTPS2	23	16720909	Silent	SNP	G	TCGA-DJ-A1QM-01A-11D-A14W-08	8	16720909	138549651	12	1405	1	2									
C1orf113	79729	broad.mit.edu	37	1	36786296	36786296	+	Missense_Mutation	SNP	C	C	A	rs577719961		TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr1:36786296C>A	ENST00000426732.2	+	13	1969	c.1684C>A	c.(1684-1686)Caa>Aaa	p.Q562K	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.Q567K|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Missense_Mutation_p.Q324K|SH3D21_ENST00000453908.2_Missense_Mutation_p.Q678K			A4FU49	SH321_HUMAN	SH3 domain containing 21	562						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GCTGGTCCCGCAAAACTACAC	0.577																																						uc010oia.1																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(2032-2034)Caa>Aaa		Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA.							48	48	48					1																	36786296		2198	4291	6489	SO:0001583	missense	79729							g.chr1:36786296C>A	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1684C>A	1.37:g.36786296C>A	ENSP00000408613:p.Gln562Lys		Somatic				SH3D21_uc010oib.1_Missense_Mutation_p.Q567K|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Missense_Mutation_p.Q324K	p.Q678K	NM_001162530	NP_078952	WXS	Illumina GAIIx	Phase_I	A4FU49	SH321_HUMAN			13	2060	+			562					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.2032C>A		.	.	.	.	.	.	.	.	.	.	C	15.41	2.824562	0.50739	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.48522	1.29;1.71;0.81;1.74	3.19	3.19	0.36642	.	14.314200	0.01677	U	0.025930	T	0.46852	0.1414	L	0.43152	1.355	0.09310	N	1	P;P	0.45474	0.859;0.779	P;B	0.44394	0.448;0.262	T	0.37865	-0.9687	10	0.18710	T	0.47	.	10.1267	0.42654	0.0:1.0:0.0:0.0	.	567;562	A4FU49-3;A4FU49	.;SH321_HUMAN	K	678;562;324;567	ENSP00000403476:Q678K;ENSP00000408613:Q562K;ENSP00000321936:Q324K;ENSP00000421294:Q567K	ENSP00000321936:Q324K	Q	+	1	0	SH3D21	36558883	0.106000	0.21978	0.029000	0.17559	0.002000	0.02628	1.210000	0.32370	2.082000	0.62665	0.462000	0.41574	CAA		0.577	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		3	39	0	0	0	1	0	3	39					A	36786296	C	A	36786296	3	1	76	1	0	0	0	0	1	0	0	0	1986	711	25	4	2086	4	C1orf113	1	36786296	Missense_Mutation	SNP	C	TCGA-DJ-A1QN-01A-11D-A14W-08		36786296	212464325	1	1406											
PREB	10113	broad.mit.edu	37	2	27357185	27357185	+	Silent	SNP	G	G	A			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr2:27357185G>A	ENST00000260643.2	-	1	358	c.105C>T	c.(103-105)ggC>ggT	p.G35G	PREB_ENST00000406567.3_Silent_p.G35G|PREB_ENST00000416802.1_5'UTR	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	35					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTGGCGGCGCCTCCTCCGC	0.711																																						uc002rix.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(103-105)ggC>ggT		Homo sapiens prolactin regulatory element binding (PREB), mRNA.							20	22	22					2																	27357185		2201	4300	6501	SO:0001819	synonymous_variant	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27357185G>A		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.105C>T	2.37:g.27357185G>A			Somatic				PREB_uc002riy.1_5'UTR	p.G35G	NM_013388	NP_037520	WXS	Illumina GAIIx	Phase_I	Q9HCU5	PREB_HUMAN			0	358	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		35					Q53SZ8|Q9UH94	Silent	SNP	ENST00000260643.2	37	c.105C>T	CCDS1738.1																																																																																				0.711	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		3	15	0	0	0	1	0	3	15					A	27357185	G	A	27357185	2	1	76	1	0	0	0	0	0	0	0	1	12470	1074	38	1		1	PREB	2	27357185	Silent	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		27357185	215842188	2	1407											
FGA	2243	broad.mit.edu	37	4	155505289	155505289	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr4:155505289A>G	ENST00000302053.3	-	6	2666	c.2588T>C	c.(2587-2589)cTt>cCt	p.L863P		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	863	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGGGTCACAAGGGGCCTAAT	0.448																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2587-2589)cTt>cCt		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						80	85	83					4																	155505289		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505289A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2588T>C	4.37:g.155505289A>G	ENSP00000306361:p.Leu863Pro		Somatic					p.L863P	NM_000508	NP_000499	WXS	Illumina GAIIx	Phase_I	P02671	FIBA_HUMAN			5	2646	-	all_hematologic(180;0.215)	Renal(120;0.0458)	863			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2588T>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	8.431	0.848654	0.17034	.	.	ENSG00000171560	ENST00000302053	D	0.97352	-4.35	5.32	4.14	0.48551	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.291777	0.32868	N	0.005542	D	0.97526	0.9190	M	0.64170	1.965	0.24734	N	0.99308	D	0.65815	0.995	D	0.66716	0.946	D	0.93344	0.6712	10	0.62326	D	0.03	.	11.2584	0.49067	0.9281:0.0:0.0719:0.0	.	863	P02671	FIBA_HUMAN	P	863	ENSP00000306361:L863P	ENSP00000306361:L863P	L	-	2	0	FGA	155724739	0.010000	0.17322	0.008000	0.14137	0.107000	0.19398	2.555000	0.45854	0.872000	0.35775	-0.389000	0.06534	CTT		0.448	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		3	100	0	0	0	1	0	3	100					G	155505289	A	G	155505289	3	3	76	1	0	0	0	0	1	0	0	0	5830	72	3	3	16	3	FGA	4	155505289	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		155505289	35648987	3	1408											
HLA-E	3133	broad.mit.edu	37	6	30459066	30459066	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr6:30459066A>G	ENST00000376630.4	+	4	828	c.763A>G	c.(763-765)Agg>Ggg	p.R255G		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CGTGGAGACCAGGCCTGCAGG	0.632																																						uc011dmh.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(886-888)Agg>Ggg		Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.							105	96	99					6																	30459066		1511	2708	4219	SO:0001583	missense	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	g.chr6:30459066A>G	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.763A>G	6.37:g.30459066A>G	ENSP00000365817:p.Arg255Gly		Somatic				HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Missense_Mutation_p.R255G	p.R296G			WXS	Illumina GAIIx	Phase_I	P13747	HLAE_HUMAN			2	913	+			255			Connecting peptide.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	c.886A>G	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.021533	0.35701	.	.	ENSG00000204592	ENST00000376630	T	0.14640	2.49	1.67	1.67	0.24075	.	0.154843	0.28098	U	0.016607	T	0.27454	0.0674	M	0.93462	3.42	0.24514	N	0.994192	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03175	-1.1064	10	0.87932	D	0	.	5.384	0.16208	1.0:0.0:0.0:0.0	.	296;255	E7ENN9;Q6DU44	.;.	G	255	ENSP00000365817:R255G	ENSP00000365817:R255G	R	+	1	2	HLA-E	30567045	0.207000	0.23482	1.000000	0.80357	0.272000	0.26649	0.318000	0.19504	1.016000	0.39470	0.379000	0.24179	AGG		0.632	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		3	89	0	0	0	1	0	3	89					G	30459066	A	G	30459066	3	3	76	1	0	0	0	0	1	0	0	0	7210	179	7	3	777	3	HLA-E	6	30459066	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		30459066	140656001	4	1409											
VPS52	6293	broad.mit.edu	37	6	33235075	33235075	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr6:33235075G>A	ENST00000445902.2	-	11	1233	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	VPS52_ENST00000436044.2_Missense_Mutation_p.R214C|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	339					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTGCTGCGGAGCGATGGC	0.567																																						uc003odm.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1015-1017)Cgc>Tgc		Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.							85	79	81					6																	33235075		2203	4300	6503	SO:0001583	missense	6293				protein transport	Golgi apparatus|endosome membrane		g.chr6:33235075G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1015C>T	6.37:g.33235075G>A	ENSP00000409952:p.Arg339Cys		Somatic				VPS52_uc003odn.1_Intron	p.R339C	NM_022553	NP_072047	WXS	Illumina GAIIx	Phase_I	Q8N1B4	VPS52_HUMAN			10	1225	-			339					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1015C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401678	0.83120	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.3	5.3	0.74995	.	0.114752	0.64402	D	0.000015	T	0.70413	0.3221	L	0.58810	1.83	0.58432	D	0.999996	D	0.89917	1.0	D	0.65874	0.939	T	0.70472	-0.4862	9	0.59425	D	0.04	-13.0165	16.8656	0.86028	0.0:0.0:1.0:0.0	.	339	Q8N1B4	VPS52_HUMAN	C	339;317;214	.	ENSP00000414785:R317C	R	-	1	0	VPS52	33343053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.709000	0.47160	2.932000	0.99384	0.643000	0.83706	CGC		0.567	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		3	55	0	0	0	1	0	3	55					A	33235075	G	A	33235075	3	1	76	1	0	0	0	0	1	0	0	0	17211	1116	39	1	1196	1	VPS52	6	33235075	Missense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08	2776009	33235075	137879992	5	1410											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	52	0	0	0	1	0	36	52					T	140453136	A	T	140453136	3	4	76	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QN-01A-11D-A14W-08		140453136	18685527	6	1411											
NDST2	8509	broad.mit.edu	37	10	75563477	75563477	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr10:75563477T>C	ENST00000309979.6	-	11	2553	c.1997A>G	c.(1996-1998)aAt>aGt	p.N666S	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.N666S|NDST2_ENST00000299641.4_Missense_Mutation_p.N543S			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	666	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGTGCTGGCATTGGAAGGAAC	0.493																																						uc001jvk.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1996-1998)aAt>aGt		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.							125	135	131					10																	75563477		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563477T>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1997A>G	10.37:g.75563477T>C	ENSP00000310657:p.Asn666Ser		Somatic				NDST2_uc010qks.1_Missense_Mutation_p.N292S|NDST2_uc010qkt.1_Missense_Mutation_p.N543S|NDST2_uc001jvl.1_Missense_Mutation_p.N73S|NDST2_uc009xro.2_Missense_Mutation_p.N292S|NDST2_uc010qku.1_Missense_Mutation_p.N541S	p.N666S	NM_003635	NP_003626	WXS	Illumina GAIIx	Phase_I	P52849	NDST2_HUMAN			10	2801	-	Prostate(51;0.0112)		666			Heparan sulfate N-sulfotransferase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1997A>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944745	0.73672	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	D;D	0.82167	-1.58;-1.58	5.95	5.95	0.96441	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	L	0.28192	0.835	0.80722	D	1	P;P;D;D	0.63046	0.641;0.464;0.972;0.992	P;P;D;D	0.77004	0.863;0.714;0.946;0.989	D	0.83866	0.0271	10	0.27785	T	0.31	.	16.4159	0.83738	0.0:0.0:0.0:1.0	.	543;336;189;666	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	S	666;543	ENSP00000310657:N666S;ENSP00000299641:N543S	ENSP00000299641:N543S	N	-	2	0	NDST2	75233483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.279000	0.76181	0.533000	0.62120	AAT		0.493	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		45	162	0	0	0	1	0	45	162					C	75563477	T	C	75563477	3	2	76	1	0	0	0	0	1	0	0	0	10256	1493	52	3	674	3	NDST2	10	75563477	Missense_Mutation	SNP	T	TCGA-DJ-A1QN-01A-11D-A14W-08		75563477	59971270	7	1412											
SLC5A2	6524	broad.mit.edu	37	16	31499718	31499718	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr16:31499718G>A	ENST00000330498.3	+	9	1055	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	346					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.V346M(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGTGGCGTGCGTGGTGCCTGA	0.672																																						uc002ecf.4																			1	Substitution - Missense(1)	p.V346M(2)	ovary(1)	endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1036-1038)Gtg>Atg		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.							34	35	35					16																	31499718		2196	4299	6495	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31499718G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1036G>A	16.37:g.31499718G>A	ENSP00000327943:p.Val346Met		Somatic				SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	p.V346M	NM_003041	NP_003032	WXS	Illumina GAIIx	Phase_I	P31639	SC5A2_HUMAN			8	1055	+			346					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1036G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789172	0.70337	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.89123	-2.47;-2.47	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95220	0.8333	10	0.59425	D	0.04	.	15.2095	0.73209	0.0:0.0:1.0:0.0	.	346	P31639	SC5A2_HUMAN	M	346	ENSP00000327943:V346M;ENSP00000410601:V346M	ENSP00000327943:V346M	V	+	1	0	SLC5A2	31407219	1.000000	0.71417	0.993000	0.49108	0.122000	0.20287	9.650000	0.98490	2.453000	0.82957	0.561000	0.74099	GTG		0.672	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			5	10	0	0	0	1	0	5	10					A	31499718	G	A	31499718	3	1	76	1	0	0	0	0	1	0	0	0	14665	1145	40	1	1070	1	SLC5A2	16	31499718	Missense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		31499718	58855035	8	1413											
EVPL	2125	broad.mit.edu	37	17	74006561	74006561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A1QN-01A-11D-A14W-08	TCGA-DJ-A1QN-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34a8702a-2fda-435f-be31-da579533f3a1	04e153bc-3c9d-4cd4-bf18-cf74c14c1352	g.chr17:74006561G>A	ENST00000301607.3	-	22	2978	c.2725C>T	c.(2725-2727)Caa>Taa	p.Q909*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q931*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	909	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCCTGCTTGGGCAGGGCTC	0.637																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2791-2793)Caa>Taa		Homo sapiens envoplakin (EVPL), mRNA.							30	31	30					17																	74006561		2203	4300	6503	SO:0001587	stop_gained	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006561G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2725C>T	17.37:g.74006561G>A	ENSP00000301607:p.Gln909*		Somatic				EVPL_uc002jqi.2_Nonsense_Mutation_p.Q909*|EVPL_uc010wst.1_Nonsense_Mutation_p.Q379*	p.Q931*	NM_001988	NP_001979	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			21	3019	-			909			Central fibrous rod domain.		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	c.2791C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295018	0.95574	.	.	ENSG00000167880	ENST00000301607	.	.	.	5.11	2.95	0.34219	.	0.990523	0.08223	N	0.978809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.2164	9.3446	0.38100	0.0:0.2038:0.4844:0.3118	.	.	.	.	X	909	.	ENSP00000301607:Q909X	Q	-	1	0	EVPL	71518156	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.114000	0.10757	1.271000	0.44313	0.555000	0.69702	CAA		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	26	0	0	0	1	0	5	26					A	74006561	G	A	74006561	4	1	76	1	0	0	0	0	0	1	0	0	5292	1357	47	2	3380	2	EVPL	17	74006561	Nonsense_Mutation	SNP	G	TCGA-DJ-A1QN-01A-11D-A14W-08		74006561	7188649	9	1414											
ZBTB40	9923	broad.mit.edu	37	1	22816958	22816958	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr1:22816958G>T	ENST00000375647.4	+	2	724	c.517G>T	c.(517-519)Gct>Tct	p.A173S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.A173S|ZBTB40_ENST00000404138.1_Missense_Mutation_p.A173S	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	173					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCCTGTGAAAGCTGAGACTGA	0.542																																						uc001bft.2																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(517-519)Gct>Tct		Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.							143	159	153					1																	22816958		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22816958G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.517G>T	1.37:g.22816958G>T	ENSP00000364798:p.Ala173Ser		Somatic				ZBTB40_uc001bfu.2_Missense_Mutation_p.A173S|ZBTB40_uc009vqi.1_Missense_Mutation_p.A173S	p.A173S	NM_001083621	NP_055685	WXS	Illumina GAIIx	Phase_I	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	2	1028	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	173					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.517G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829658	0.71258	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.07908	3.15;3.15;3.27;3.16	4.94	3.96	0.45880	.	0.257978	0.27424	N	0.019436	T	0.10852	0.0265	L	0.60455	1.87	0.09310	N	1	B;B	0.30281	0.275;0.18	B;B	0.38803	0.282;0.146	T	0.20107	-1.0285	10	0.15952	T	0.53	-12.3703	9.1729	0.37093	0.0:0.1576:0.6801:0.1624	.	173;173	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	S	173;127;173;173;173	ENSP00000384527:A173S;ENSP00000364798:A173S;ENSP00000383098:A173S;ENSP00000363782:A173S	ENSP00000363780:A127S	A	+	1	0	ZBTB40	22689545	0.985000	0.35326	0.729000	0.30791	0.450000	0.32258	2.123000	0.41996	2.444000	0.82710	0.591000	0.81541	GCT		0.542	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		13	219	0	0	0	1	0	13	219					T	22816958	G	T	22816958	3	4	77	1	0	0	0	0	1	0	0	0	17539	971	34	4	519	4	ZBTB40	1	22816958	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		22816958	226433663	1	1415											
KCMF1	56888	broad.mit.edu	37	2	85276643	85276643	+	Silent	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:85276643C>T	ENST00000409785.4	+	6	1115	c.756C>T	c.(754-756)cgC>cgT	p.R252R		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	252							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AGACCGCACGCAACGCAACCC	0.537																																						uc002sox.4																			0				ovary(3)	3						c.(754-756)cgC>cgT		Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.							114	126	122					2																	85276643		2197	4296	6493	SO:0001819	synonymous_variant	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85276643C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.756C>T	2.37:g.85276643C>T			Somatic					p.R252R	NM_020122	NP_064507	WXS	Illumina GAIIx	Phase_I	Q9P0J7	KCMF1_HUMAN			5	1100	+			252					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Silent	SNP	ENST00000409785.4	37	c.756C>T	CCDS46350.1																																																																																				0.537	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		8	40	0	0	0	1	0	8	40					T	85276643	C	T	85276643	2	4	77	1	0	0	0	0	0	0	0	1	8000	697	25	2		2	KCMF1	2	85276643	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		85276643	157922730	2	1416											
TTN	7273	broad.mit.edu	37	2	179580380	179580380	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr2:179580380C>G	ENST00000591111.1	-	87	25034	c.24810G>C	c.(24808-24810)gaG>gaC	p.E8270D	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7343D|TTN_ENST00000589042.1_Missense_Mutation_p.E8587D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12448	Ig-like 65.				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)			GAATTTCAGTCTCGTCCTTAT	0.408																																						uc021vsy.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.(22027-22029)gaG>gaC		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84	82	82					2																	179580380		1939	4145	6084	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179580380C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24810G>C	2.37:g.179580380C>G	ENSP00000465570:p.Glu8270Asp		Somatic				TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4004D	p.E7343D	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	22254	-			8270			Ig-like 55.		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.22029G>C		.	.	.	.	.	.	.	.	.	.	C	12.36	1.915378	0.33815	.	.	ENSG00000155657	ENST00000342992	T	0.39406	1.08	5.33	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17109	0.0411	N	0.03177	-0.4	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	9	0.87932	D	0	.	2.6498	0.04995	0.3855:0.3571:0.0:0.2574	.	8270	Q8WZ42	TITIN_HUMAN	D	7343	ENSP00000343764:E7343D	ENSP00000343764:E7343D	E	-	3	2	TTN	179288625	0.863000	0.29885	1.000000	0.80357	0.966000	0.64601	0.321000	0.19558	1.375000	0.46248	-0.136000	0.14681	GAG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	18	0	0	0	1	0	9	18					G	179580380	C	G	179580380	3	3	77	1	0	0	0	0	1	0	0	0	16732	912	32	4	78864	4	TTN	2	179580380	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	94303737	179580380	63618993	3	1417											
ZNF141	7700	broad.mit.edu	37	4	366799	366799	+	Silent	SNP	A	A	G			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr4:366799A>G	ENST00000240499.7	+	4	722	c.573A>G	c.(571-573)gtA>gtG	p.V191V	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	191					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AACATAAGGTAATTCATGCTG	0.343																																						uc003gaa.2																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(571-573)gtA>gtG		Homo sapiens zinc finger protein 141 (ZNF141), mRNA.							66	71	70					4																	366799		2201	4299	6500	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:366799A>G	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.573A>G	4.37:g.366799A>G			Somatic				ZNF141_uc003gab.3_Intron	p.V191V	NM_003441	NP_003432	WXS	Illumina GAIIx	Phase_I	Q15928	ZN141_HUMAN			3	750	+			191					Q6DK07	Silent	SNP	ENST00000240499.7	37	c.573A>G	CCDS33931.1																																																																																				0.343	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		18	71	0	0	0	1	0	18	71					G	366799	A	G	366799	2	3	77	1	0	0	0	0	0	0	0	1	17727	349	13	3		3	ZNF141	4	366799	Silent	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		366799	190787477	4	1418											
GPR98	84059	broad.mit.edu	37	5	90084066	90084066	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:90084066A>G	ENST00000405460.2	+	68	13928	c.13832A>G	c.(13831-13833)aAa>aGa	p.K4611R	GPR98_ENST00000425867.2_Missense_Mutation_p.K272R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4611	Calx-beta 31. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCATTATTAAACTTCATCTT	0.348																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13831-13833)aAa>aGa		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							75	75	75					5																	90084066		1831	4085	5916	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:90084066A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13832A>G	5.37:g.90084066A>G	ENSP00000384582:p.Lys4611Arg		Somatic				GPR98_uc003kjt.3_Missense_Mutation_p.K2317R|GPR98_uc003kjw.3_Missense_Mutation_p.K272R	p.K4611R	NM_032119	NP_115495	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	67	13928	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4611			Calx-beta 31.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13832A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	0.325	-0.959332	0.02267	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.26810	1.71;1.71	4.94	3.78	0.43462	.	0.453841	0.26680	N	0.023053	T	0.14830	0.0358	L	0.38531	1.155	0.20307	N	0.999916	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.26985	-1.0087	10	0.13470	T	0.59	.	3.1188	0.06383	0.5978:0.0:0.2268:0.1753	.	272;4611;272	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	R	4611;4611;272	ENSP00000384582:K4611R;ENSP00000392618:K272R	ENSP00000296619:K4611R	K	+	2	0	GPR98	90119822	1.000000	0.71417	0.033000	0.17914	0.027000	0.11550	3.926000	0.56491	0.846000	0.35142	-0.256000	0.11100	AAA		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		19	29	0	0	0	1	0	19	29					G	90084066	A	G	90084066	3	3	77	1	0	0	0	0	1	0	0	0	6721	14	1	3	14102	3	GPR98	5	90084066	Missense_Mutation	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		90084066	90831194	5	1419											
PCDHA8	56140	broad.mit.edu	37	5	140222123	140222123	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr5:140222123C>T	ENST00000531613.1	+	1	1217	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S406L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	406	Cadherin 4. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTACTACTCGTTGGTGCTG	0.632																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1216-1218)tCg>tTg		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							138	123	128					5																	140222123		2203	4299	6502	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222123C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1217C>T	5.37:g.140222123C>T	ENSP00000434655:p.Ser406Leu		Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.S406L	p.S406L	NM_018911	NP_061734	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1217	+			420			Cadherin 4.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1217C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380367	0.61845	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.02631	4.22;4.22	3.57	3.57	0.40892	Cadherin (4);Cadherin-like (1);	0.000000	0.33895	U	0.004458	T	0.09992	0.0245	L	0.45422	1.42	0.34296	D	0.683815	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.963	T	0.15925	-1.0420	10	0.72032	D	0.01	.	15.5787	0.76414	0.0:1.0:0.0:0.0	.	406;406	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	406	ENSP00000434655:S406L;ENSP00000367363:S406L	ENSP00000367363:S406L	S	+	2	0	PCDHA8	140202307	0.001000	0.12720	0.603000	0.28903	0.463000	0.32649	0.896000	0.28377	1.709000	0.51313	0.306000	0.20318	TCG		0.632	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		71	146	0	0	0	1	0	71	146					T	140222123	C	T	140222123	3	4	77	1	0	0	0	0	1	0	0	0	11530	893	31	1	1219	1	PCDHA8	5	140222123	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	50138057	140222123	40693137	6	1420											
BAT2	7916	broad.mit.edu	37	6	31602045	31602045	+	Missense_Mutation	SNP	C	C	A	rs146122581		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:31602045C>A	ENST00000376033.2	+	19	4986	c.4752C>A	c.(4750-4752)ttC>ttA	p.F1584L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F1584L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1584	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)			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						GCTCTGGATTCTTGGGCTCTA	0.527																																						uc003nvb.4																			0				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.(4750-4752)ttC>ttA		Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.							297	370	344					6																	31602045		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31602045C>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4752C>A	6.37:g.31602045C>A	ENSP00000365201:p.Phe1584Leu		Somatic				PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.F1584L	p.F1584L	NM_080686	NP_542417	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			18	5001	+			1584			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.4752C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057987	0.36277	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01685	4.69;4.69	5.31	2.53	0.30540	.	0.201305	0.35970	N	0.002876	T	0.00496	0.0016	N	0.19112	0.55	0.32582	N	0.528301	B	0.06786	0.001	B	0.08055	0.003	T	0.49214	-0.8963	10	0.87932	D	0	-1.1559	4.6779	0.12720	0.0:0.5857:0.1592:0.2551	.	1584	P48634	PRC2A_HUMAN	L	1578;1567;1584;1584;809	ENSP00000365175:F1584L;ENSP00000365201:F1584L	ENSP00000365175:F1584L	F	+	3	2	PRRC2A	31710024	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.139000	0.16036	0.369000	0.24510	0.561000	0.74099	TTC		0.527	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	489	0	0	0	1	0	8	489					A	31602045	C	A	31602045	3	1	77	1	0	0	0	0	1	0	0	0	1319	912	32	4	4822	4	BAT2	6	31602045	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		31602045	139513022	7	1421											
TAAR5	9038	broad.mit.edu	37	6	132910122	132910122	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:132910122G>A	ENST00000258034.2	-	1	755	c.704C>T	c.(703-705)aCa>aTa	p.T235I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	235					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TTTGCTCAATGTGGTAATCTG	0.502																																						uc003qdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(703-705)aCa>aTa		Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.							45	45	45					6																	132910122		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910122G>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.704C>T	6.37:g.132910122G>A	ENSP00000258034:p.Thr235Ile		Somatic					p.T235I	NM_003967	NP_003958	WXS	Illumina GAIIx	Phase_I	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	0	756	-	Breast(56;0.112)		235					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.704C>T	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190753	0.06299	.	.	ENSG00000135569	ENST00000258034	T	0.38560	1.13	5.58	-0.832	0.10785	GPCR, rhodopsin-like superfamily (1);	0.280628	0.27231	N	0.020304	T	0.14013	0.0339	L	0.52266	1.64	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24941	-1.0146	10	0.59425	D	0.04	-3.8993	5.5091	0.16870	0.0608:0.3161:0.202:0.4211	.	235	O14804	TAAR5_HUMAN	I	235	ENSP00000258034:T235I	ENSP00000258034:T235I	T	-	2	0	TAAR5	132951815	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.284000	0.08422	-0.058000	0.13177	0.655000	0.94253	ACA		0.502	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		18	29	0	0	0	1	0	18	29					A	132910122	G	A	132910122	3	1	77	1	0	0	0	0	1	0	0	0	15488	1377	48	2	313	2	TAAR5	6	132910122	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08	101308077	132910122	38204945	8	1422											
ARID1B	57492	broad.mit.edu	37	6	157521926	157521926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr6:157521926C>T	ENST00000350026.5	+	17	4160	c.4159C>T	c.(4159-4161)Cag>Tag	p.Q1387*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1400*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1382*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1440*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1387					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)		CAGCAGCCAGCAGCAGGAGAT	0.592																																						uc003qqn.3																			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.(4318-4320)Cag>Tag		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							62	66	65					6																	157521926		2203	4296	6499	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521926C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4159C>T	6.37:g.157521926C>T	ENSP00000055163:p.Gln1387*		Somatic				ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1400*|ARID1B_uc003qqp.3_Nonsense_Mutation_p.Q1387*	p.Q1440*	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	17	4318	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1387					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.4318C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	8.812488	0.98964	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.414	0.90562	0.0:1.0:0.0:0.0	.	.	.	.	X	1400;1387;1440;1382;909	.	ENSP00000275248:Q1382X	Q	+	1	0	ARID1B	157563618	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	6.988000	0.76212	2.413000	0.81919	0.655000	0.94253	CAG		0.592	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		26	44	0	0	0	1	0	26	44					T	157521926	C	T	157521926	4	4	77	1	0	0	0	0	0	1	0	0	914	711	25	2	4268	2	ARID1B	6	157521926	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08	24611804	157521926	13593141	9	1423											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	38	0	0	0	1	0	15	38					T	140453136	A	T	140453136	3	4	77	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QO-01A-11D-A14W-08		140453136	18685527	10	1424											
MYOM2	9172	broad.mit.edu	37	8	2027691	2027691	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr8:2027691G>C	ENST00000262113.4	+	13	1654	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	505					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGATGACCTTGAAGGTAAGTA	0.512																																						uc003wpx.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1513-1515)Gaa>Caa		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							233	224	227					8																	2027691		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2027691G>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1513G>C	8.37:g.2027691G>C	ENSP00000262113:p.Glu505Gln		Somatic				MYOM2_uc011kwi.2_Intron	p.E505Q	NM_003970	NP_003961	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	12	1651	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	505					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1513G>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904729	0.52333	.	.	ENSG00000036448	ENST00000262113	T	0.54675	0.56	5.26	5.26	0.73747	.	0.138038	0.48286	D	0.000185	T	0.64125	0.2570	M	0.76002	2.32	0.80722	D	1	D	0.55800	0.973	P	0.49528	0.614	T	0.67791	-0.5579	10	0.48119	T	0.1	.	18.8744	0.92328	0.0:0.0:1.0:0.0	.	505	P54296	MYOM2_HUMAN	Q	505	ENSP00000262113:E505Q	ENSP00000262113:E505Q	E	+	1	0	MYOM2	2015098	1.000000	0.71417	0.942000	0.38095	0.025000	0.11179	7.783000	0.85696	2.449000	0.82847	0.655000	0.94253	GAA		0.512	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		6	230	0	0	0	1	0	6	230					C	2027691	G	C	2027691	3	2	77	1	0	0	0	0	1	0	0	0	10092	1291	45	4	1559	4	MYOM2	8	2027691	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		2027691	144336331	11	1425											
DNTT	1791	broad.mit.edu	37	10	98087290	98087290	+	Silent	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr10:98087290C>T	ENST00000371174.2	+	7	1042	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	DNTT_ENST00000419175.1_Silent_p.L314L			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	314	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CGTCAGTGTGCTGGTTAAAGA	0.522																																						uc001kmf.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(940-942)Ctg>Ttg		Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.							268	244	252					10																	98087290		2203	4300	6503	SO:0001819	synonymous_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98087290C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.940C>T	10.37:g.98087290C>T			Somatic				DNTT_uc001kmg.3_Silent_p.L314L	p.L314L	NM_004088	NP_004079	WXS	Illumina GAIIx	Phase_I	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	6	1110	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	314			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Silent	SNP	ENST00000371174.2	37	c.940C>T	CCDS7447.1																																																																																				0.522	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		4	209	0	0	0	1	0	4	209					T	98087290	C	T	98087290	2	4	77	1	0	0	0	0	0	0	0	1	4680	796	28	2		2	DNTT	10	98087290	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		98087290	37447457	12	1426											
CNGA4	1262	broad.mit.edu	37	11	6261928	6261928	+	Nonsense_Mutation	SNP	C	C	T	rs532111437		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:6261928C>T	ENST00000379936.2	+	4	1019	c.904C>T	c.(904-906)Cga>Tga	p.R302*	CNGA4_ENST00000533426.1_Nonsense_Mutation_p.R71*	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	302					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 cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGAGCGGCGAGTTATTGA	0.542																																						uc001mco.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(904-906)Cga>Tga		Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.							72	63	66					11																	6261928		2201	4296	6497	SO:0001587	stop_gained	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261928C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.904C>T	11.37:g.6261928C>T	ENSP00000369268:p.Arg302*		Somatic				CNGA4_uc010raa.2_Nonsense_Mutation_p.R71*|CNGA4_uc001mcn.3_Nonsense_Mutation_p.R262*	p.R302*	NM_001037329	NP_001032406	WXS	Illumina GAIIx	Phase_I	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	1019	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	302						Nonsense_Mutation	SNP	ENST00000379936.2	37	c.904C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876360	0.72180	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	.	.	.	5.15	2.11	0.27256	.	0.119205	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0481	0.58939	0.5604:0.4396:0.0:0.0	.	.	.	.	X	71;302	.	ENSP00000369268:R302X	R	+	1	2	CNGA4	6218504	0.372000	0.25064	0.604000	0.28916	0.399000	0.30720	0.922000	0.28734	0.231000	0.21079	-0.268000	0.10319	CGA		0.542	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		14	40	0	0	0	1	0	14	40					T	6261928	C	T	6261928	4	4	77	1	0	0	0	0	0	1	0	0	3599	760	27	1	918	1	CNGA4	11	6261928	Nonsense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		6261928	128744588	13	1427											
HTATIP2	10553	broad.mit.edu	37	11	20404724	20404724	+	Silent	SNP	G	G	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:20404724G>A	ENST00000451739.2	+	5	1143	c.702G>A	c.(700-702)ggG>ggA	p.G234G	HTATIP2_ENST00000443524.2_Silent_p.G234G|HTATIP2_ENST00000419348.2_Silent_p.G268G|HTATIP2_ENST00000421577.2_Silent_p.G234G|HTATIP2_ENST00000531058.1_Silent_p.G188G	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGACCTGGGGAAAGCGCATG	0.473																																						uc001mpx.2																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(802-804)ggG>ggA		Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 1, mRNA.							86	70	76					11																	20404724		2203	4300	6503	SO:0001819	synonymous_variant	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20404724G>A	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.702G>A	11.37:g.20404724G>A			Somatic				HTATIP2_uc009yia.1_Silent_p.G234G|HTATIP2_uc009yib.1_Silent_p.G234G|HTATIP2_uc001mpz.2_Silent_p.G234G	p.G268G	NM_001098520	NP_006401	WXS	Illumina GAIIx	Phase_I	Q9BUP3	HTAI2_HUMAN			5	873	+			234						Silent	SNP	ENST00000451739.2	37	c.804G>A	CCDS7852.1																																																																																				0.473	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		4	13	0	0	0	1	0	4	13					A	20404724	G	A	20404724	2	1	77	1	0	0	0	0	0	0	0	1	7432	1161	41	2		2	HTATIP2	11	20404724	Silent	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08	14142796	20404724	114601792	14	1428											
RBM4B	83759	broad.mit.edu	37	11	66436191	66436191	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr11:66436191T>A	ENST00000525754.1	-	2	1652	c.984A>T	c.(982-984)ttA>ttT	p.L328F	RBM4B_ENST00000531969.1_Intron|RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000310046.4_Missense_Mutation_p.L328F|RBM4B_ENST00000529195.2_5'UTR			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	328	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AAGCCTGAGATAATTCACTCT	0.552																																						uc001oja.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(982-984)ttA>ttT		Homo sapiens RNA binding motif protein 4B (RBM4B), mRNA.							62	56	58					11																	66436191		2200	4295	6495	SO:0001583	missense	83759				RNA splicing|circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing	nucleolus	RNA binding|nucleotide binding|zinc ion binding	g.chr11:66436191T>A	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.984A>T	11.37:g.66436191T>A	ENSP00000433071:p.Leu328Phe		Somatic				RBM4B_uc001ojb.3_Missense_Mutation_p.L328F	p.L328F	NM_031492	NP_113680	WXS	Illumina GAIIx	Phase_I	Q9BQ04	RBM4B_HUMAN			1	1653	-			328			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.984A>T	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471557	0.63737	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.27890	1.64;1.64	6.16	4.2	0.49525	.	0.300842	0.36628	N	0.002489	T	0.44973	0.1319	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.26292	-1.0107	10	0.48119	T	0.1	-4.0864	10.6089	0.45410	0.0:0.8142:0.0:0.1858	.	328	Q9BQ04	RBM4B_HUMAN	F	328	ENSP00000433071:L328F;ENSP00000310471:L328F	ENSP00000310471:L328F	L	-	3	2	RBM4B	66192767	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.018000	0.30002	0.823000	0.34589	-0.297000	0.09499	TTA		0.552	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		19	40	0	0	0	1	0	19	40					A	66436191	T	A	66436191	3	1	77	1	0	0	0	0	1	0	0	0	13142	1403	49	5	99	5	RBM4B	11	66436191	Missense_Mutation	SNP	T	TCGA-DJ-A1QO-01A-11D-A14W-08	46031467	66436191	68570325	15	1429											
NAV3	89795	broad.mit.edu	37	12	78583811	78583811	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr12:78583811C>T	ENST00000397909.2	+	34	6276	c.6103C>T	c.(6103-6105)Cct>Tct	p.P2035S	NAV3_ENST00000536525.2_Missense_Mutation_p.P2013S|NAV3_ENST00000266692.7_Missense_Mutation_p.P1836S|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.P2013S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2035						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACGCTGATTCCTAAACCAAT	0.353										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6103-6105)Cct>Tct		Homo sapiens neuron navigator 3 (NAV3), mRNA.							113	104	107					12																	78583811		1923	4147	6070	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78583811C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6103C>T	12.37:g.78583811C>T	ENSP00000381007:p.Pro2035Ser	HNSCC(70;0.22)	Somatic				NAV3_uc001syo.3_Missense_Mutation_p.P2013S|NAV3_uc010sub.2_Missense_Mutation_p.P1492S|NAV3_uc009zsf.3_Missense_Mutation_p.P844S	p.P2035S	NM_014903	NP_055718	WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			33	6276	+			2035					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6103C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.903370|4.903370	0.92035|0.92035	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.88124|.	-2.34;-2.34;-2.34;-2.34;-2.34|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.40064|.	U|.	0.001197|.	T|T	0.78755|0.78755	0.4333|0.4333	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;P;D;P|.	0.89917|.	1.0;0.911;1.0;0.835|.	D;P;D;P|.	0.97110|.	1.0;0.608;0.998;0.628|.	T|T	0.79813|0.79813	-0.1645|-0.1645	10|5	0.72032|.	D|.	0.01|.	-15.9984|-15.9984	18.7239|18.7239	0.91705|0.91705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2013;1836;2035;2013|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	S|F	2013;2035;2013;1836;627;635|907	ENSP00000446132:P2013S;ENSP00000381007:P2035S;ENSP00000228327:P2013S;ENSP00000266692:P1836S;ENSP00000448303:P635S|.	ENSP00000228327:P2013S|.	P|S	+|+	1|2	0|0	NAV3|NAV3	77107942|77107942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.720000|7.720000	0.84759|0.84759	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.353	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		37	56	0	0	0	1	0	37	56					T	78583811	C	T	78583811	3	4	77	1	0	0	0	0	1	0	0	0	10185	855	30	2	6167	2	NAV3	12	78583811	Missense_Mutation	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		78583811	55268084	16	1430											
MYCBP2	23077	broad.mit.edu	37	13	77673090	77673090	+	Silent	SNP	C	C	T			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr13:77673090C>T	ENST00000544440.2	-	56	8102	c.8085G>A	c.(8083-8085)gaG>gaA	p.E2695E	MYCBP2_ENST00000357337.6_Silent_p.E2695E|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.E2733E|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Silent_p.E218E					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGAGGACAGCTCTGATTTTC	0.413																																						uc021rks.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8197-8199)gaG>gaA		Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.							130	125	127					13																	77673090		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77673090C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8085G>A	13.37:g.77673090C>T			Somatic				MYCBP2_uc010aev.3_Silent_p.E2099E|MYCBP2_uc001vkg.1_Silent_p.E218E|MYCBP2_uc010aew.3_Silent_p.E81E	p.E2733E	NM_015057	NP_055872	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	55	8466	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2695			Ser-rich.			Silent	SNP	ENST00000544440.2	37	c.8199G>A																																																																																					0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		32	66	0	0	0	1	0	32	66					T	77673090	C	T	77673090	2	4	77	1	0	0	0	0	0	0	0	1	10018	796	28	2		2	MYCBP2	13	77673090	Silent	SNP	C	TCGA-DJ-A1QO-01A-11D-A14W-08		77673090	37496788	17	1431											
C14orf174	161394	broad.mit.edu	37	14	77844257	77844257	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr14:77844257G>A	ENST00000216471.4	+	1	782	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	166										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						GCCACCAACGGAAACCATGTC	0.493																																						uc001xtq.1																			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.(496-498)Gaa>Aaa		Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.							90	98	95					14																	77844257		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77844257G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.496G>A	14.37:g.77844257G>A	ENSP00000216471:p.Glu166Lys		Somatic				TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.E166K	p.E166K	NM_001010860	NP_001010860	WXS	Illumina GAIIx	Phase_I	Q9P1V8	SAM15_HUMAN			0	496	+			166					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.496G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056959	0.76074	.	.	ENSG00000100583	ENST00000216471	T	0.24350	1.86	5.57	0.192	0.15134	.	.	.	.	.	T	0.16257	0.0391	L	0.46157	1.445	0.09310	N	1	B	0.24618	0.107	B	0.22386	0.039	T	0.31806	-0.9930	9	0.18710	T	0.47	-12.2146	1.1572	0.01798	0.249:0.2793:0.3287:0.143	.	166	Q9P1V8	SAM15_HUMAN	K	166	ENSP00000216471:E166K	ENSP00000216471:E166K	E	+	1	0	SAMD15	76914010	0.001000	0.12720	0.001000	0.08648	0.389000	0.30415	0.532000	0.23067	0.029000	0.15352	0.555000	0.69702	GAA		0.493	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		35	82	0	0	0	1	0	35	82					A	77844257	G	A	77844257	3	1	77	1	0	0	0	0	1	0	0	0	1759	1175	41	2	498	2	C14orf174	14	77844257	Missense_Mutation	SNP	G	TCGA-DJ-A1QO-01A-11D-A14W-08		77844257	29505283	18	1432											
DNAI2	64446	broad.mit.edu	37	17	72278108	72278108	+	Missense_Mutation	SNP	T	T	A	rs564894784		TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr17:72278108T>A	ENST00000311014.6	+	2	219	c.152T>A	c.(151-153)aTc>aAc	p.I51N	DNAI2_ENST00000446837.2_Missense_Mutation_p.I51N|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000579490.1_Missense_Mutation_p.I108N|DNAI2_ENST00000582036.1_Missense_Mutation_p.I51N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	51					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACACGGGCATCCAGTGCTCG	0.662									Kartagener syndrome				T|||	1	0.000199681	0	0	5008	,	,		17730	0.001		0	False		,,,				2504	0					uc002jkf.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(151-153)aTc>aAc		Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.							119	103	109					17																	72278108		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72278108T>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.152T>A	17.37:g.72278108T>A	ENSP00000308312:p.Ile51Asn		Somatic				DNAI2_uc002jkg.3_Missense_Mutation_p.I51N|DNAI2_uc010dfp.3_Non-coding_Transcript	p.I51N	NM_023036	NP_075462	WXS	Illumina GAIIx	Phase_I	Q9GZS0	DNAI2_HUMAN			1	262	+			51					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.152T>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.418078	0.42918	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.15603	2.41;2.41	5.22	3.04	0.35103	.	0.563763	0.19226	N	0.119523	T	0.27798	0.0684	M	0.83852	2.665	0.80722	D	1	P	0.38370	0.628	B	0.42692	0.395	T	0.02813	-1.1107	10	0.62326	D	0.03	-28.043	9.2297	0.37430	0.0:0.1449:0.0:0.8551	.	51	Q9GZS0	DNAI2_HUMAN	N	51	ENSP00000308312:I51N;ENSP00000400252:I51N	ENSP00000308312:I51N	I	+	2	0	DNAI2	69789703	0.683000	0.27633	0.996000	0.52242	0.627000	0.37826	2.121000	0.41977	0.479000	0.27511	0.524000	0.50904	ATC		0.662	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		27	53	0	0	0	1	0	27	53					A	72278108	T	A	72278108	3	1	77	1	0	0	0	0	1	0	0	0	4610	1435	50	5	154	5	DNAI2	17	72278108	Missense_Mutation	SNP	T	TCGA-DJ-A1QO-01A-11D-A14W-08		72278108	8917102	19	1433											
MN1	4330	broad.mit.edu	37	22	28194931	28194933	+	In_Frame_Del	DEL	TGT	TGT	-	rs572936881|rs373314940|rs71194738	byFrequency	TCGA-DJ-A1QO-01A-11D-A14W-08	TCGA-DJ-A1QO-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49920921-d55d-47bd-a264-4f42dbdf8b30	0f82f0a9-494f-45a2-b451-9a06cd7b11e0	g.chr22:28194931_28194933delTGT	ENST00000302326.4	-	1	2553_2555	c.1599_1601delACA	c.(1597-1602)caacag>cag	p.533_534QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q550_R551insQ(1)		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						ctgctgctgctgttgctgctgct	0.65			T	ETV6	"AML, meningioma"																																	uc003adj.3				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		1	Insertion - In frame(1)	p.Q550_R551insQ(1)|p.Q532Q(1)	prostate(1)	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.(1597-1602)caacag>cag		Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.				87,42,3551|120,342,2806		22,1,42,7,27,1741|13,5,89,53,231,1243						0.1|-1.4	0.9|1.0		dbSNP_131|dbSNP_126	5|5	113,63,7304|314,526,5950		24,1,64,8,46,3597|13,4,284,58,406,2630	no|no	codingComplex|codingComplex	MN1|MN1	NM_002430.2|NM_002430.2		46,2,106,15,73,5338|26,9,373,111,637,3873	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1A2,A1R,A2A2,A2R,RR		2.3529,3.5054,2.733|12.3711,14.1371,12.9449				200,105,10855|434,868,8756				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194931_28194933delTGT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1599_1601delACA	22.37:g.28194931_28194933delTGT	ENSP00000304956:p.Gln550del		Somatic					p.533_534QQ>Q	NM_002430	NP_002421	WXS	Illumina GAIIx	Phase_I	Q10571	MN1_HUMAN			0	2554_2556	-			533			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1599_1601delACA	CCDS42998.1																																																																																				0.65	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		4	7						4	7	---	---	---	---	-	28194933	TGT	-	28194931	7	5	77	1	0	1	0	1	0	0	0	0	9673	1580	55	0	2369	0	MN1	22	28194931	In_Frame_Del	DEL	TGT	TCGA-DJ-A1QO-01A-11D-A14W-08		28194931	23109635	20	1434											
ZC3H11A	9877	broad.mit.edu	37	1	203818917	203818917	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr1:203818917C>G	ENST00000545588.1	+	14	5529	c.1702C>G	c.(1702-1704)Cag>Gag	p.Q568E	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q568E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	568					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCACATGCAGAAACAGCA	0.463																																						uc001hac.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1702-1704)Cag>Gag		Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.							135	131	132					1																	203818917		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203818917C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1702C>G	1.37:g.203818917C>G	ENSP00000438527:p.Gln568Glu		Somatic				ZC3H11A_uc001had.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001hae.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001haf.3_Missense_Mutation_p.Q568E|ZC3H11A_uc010pqm.2_Missense_Mutation_p.Q514E|ZC3H11A_uc001hag.1_Missense_Mutation_p.Q568E	p.Q568E	NM_014827	NP_055642	WXS	Illumina GAIIx	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		16	2318	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		568					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1702C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398678	0.42512	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.59	5.59	0.84812	.	0.476535	0.23801	N	0.044433	T	0.38904	0.1058	M	0.65975	2.015	0.30268	N	0.792519	B	0.10296	0.003	B	0.10450	0.005	T	0.45600	-0.9250	10	0.02654	T	1	-21.2671	15.0946	0.72223	0.0:1.0:0.0:0.0	.	568	O75152	ZC11A_HUMAN	E	568;514;568;568;568;568	ENSP00000356183:Q568E;ENSP00000356181:Q568E;ENSP00000333253:Q568E;ENSP00000438527:Q568E;ENSP00000356179:Q568E	ENSP00000333253:Q568E	Q	+	1	0	ZC3H11A	202085540	0.984000	0.35163	0.150000	0.22450	0.870000	0.49936	2.972000	0.49256	2.642000	0.89623	0.561000	0.74099	CAG		0.463	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		74	104	0	0	0	1	0	74	104					G	203818917	C	G	203818917	3	3	78	1	0	0	0	0	1	0	0	0	17557	711	25	4	1752	4	ZC3H11A	1	203818917	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		203818917	45431704	1	1435											
MBD5	55777	broad.mit.edu	37	2	149240876	149240876	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr2:149240876T>C	ENST00000407073.1	+	10	3713	c.2716T>C	c.(2716-2718)Tca>Cca	p.S906P	MBD5_ENST00000404807.1_Missense_Mutation_p.S906P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	906					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACAGCACTTCAAACAACCA	0.483																																						uc002twm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2716-2718)Tca>Cca		Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.							281	259	267					2																	149240876		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	DNA binding|chromatin binding	g.chr2:149240876T>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2716T>C	2.37:g.149240876T>C	ENSP00000386049:p.Ser906Pro		Somatic				MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	p.S906P	NM_018328	NP_060798	WXS	Illumina GAIIx	Phase_I	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3713	+			906					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2716T>C	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771008	0.49680	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.47869	0.83;0.85	5.66	3.27	0.37495	.	0.130057	0.35495	N	0.003175	T	0.24967	0.0606	N	0.14661	0.345	0.30641	N	0.756417	B	0.09022	0.002	B	0.06405	0.002	T	0.12708	-1.0537	10	0.21540	T	0.41	-3.5098	5.7946	0.18379	0.0:0.1402:0.1444:0.7154	.	906	Q9P267	MBD5_HUMAN	P	906	ENSP00000386049:S906P;ENSP00000384672:S906P	ENSP00000384672:S906P	S	+	1	0	MBD5	148957346	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.347000	0.33975	0.941000	0.37499	0.379000	0.24179	TCA		0.483	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			3	177	0	0	0	1	0	3	177					C	149240876	T	C	149240876	3	2	78	1	0	0	0	0	1	0	0	0	9347	1783	62	3	2734	3	MBD5	2	149240876	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		149240876	93958497	2	1436											
SCN5A	6331	broad.mit.edu	37	3	38651439	38651439	+	Silent	SNP	C	C	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:38651439C>T	ENST00000333535.4	-	7	869	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SCN5A_ENST00000449557.2_Silent_p.V240V|SCN5A_ENST00000425664.1_Silent_p.V240V|SCN5A_ENST00000451551.2_Silent_p.V240V|SCN5A_ENST00000413689.1_Silent_p.V240V|SCN5A_ENST00000414099.2_Silent_p.V240V|SCN5A_ENST00000423572.2_Silent_p.V240V|SCN5A_ENST00000455624.2_Silent_p.V240V|SCN5A_ENST00000443581.1_Silent_p.V240V|SCN5A_ENST00000450102.2_Silent_p.V240V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	240					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGGGCCCCCACGATGGTCT	0.617																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(718-720)gtG>gtA		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						72	77	75					3																	38651439		2170	4281	6451	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38651439C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.720G>A	3.37:g.38651439C>T			Somatic				SCN5A_uc021wvk.1_Silent_p.V240V|SCN5A_uc021wvl.1_Silent_p.V240V|SCN5A_uc021wvm.1_Silent_p.V240V|SCN5A_uc021wvn.1_Silent_p.V240V|SCN5A_uc021wvp.1_Silent_p.V240V|SCN5A_uc021wvq.1_Silent_p.V240V|SCN5A_uc021wvr.1_Silent_p.V240V|SCN5A_uc021wvs.1_Silent_p.V240V|SCN5A_uc021wvt.1_Silent_p.V240V|SCN5A_uc021wvu.1_Silent_p.V240V|SCN5A_uc021wvv.1_Silent_p.V240V|SCN5A_uc021wvj.1_Silent_p.V106V|SCN5A_uc021wvi.1_Silent_p.V106V|SCN5A_uc010hhl.1_Silent_p.V63V	p.V240V	NM_198056	NP_932173	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	5	772	-	Medulloblastoma(35;0.163)		240					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.720G>A	CCDS46796.1																																																																																				0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		17	54	0	0	0	1	0	17	54					T	38651439	C	T	38651439	2	4	78	1	0	0	0	0	0	0	0	1	13922	581	21	2		2	SCN5A	3	38651439	Silent	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		38651439	159370991	3	1437											
ALS2CL	259173	broad.mit.edu	37	3	46725278	46725278	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:46725278C>G	ENST00000318962.4	-	9	989	c.906G>C	c.(904-906)caG>caC	p.Q302H	ALS2CL_ENST00000415953.1_Missense_Mutation_p.Q302H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	302					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCACCTGGCCCTGGGAGTCCT	0.602																																						uc003cqa.2																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(904-906)caG>caC		Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.							139	141	140					3																	46725278		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding	g.chr3:46725278C>G	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.906G>C	3.37:g.46725278C>G	ENSP00000313670:p.Gln302His		Somatic				ALS2CL_uc003cpz.2_5'Flank|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.Q302H	p.Q302H	NM_001190707	NP_667340	WXS	Illumina GAIIx	Phase_I	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	8	1099	-			302					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.906G>C	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136915	0.37728	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.57436	0.4;0.4	5.01	2.2	0.27929	.	0.000000	0.56097	D	0.000022	T	0.47838	0.1467	M	0.78049	2.395	0.80722	D	1	B	0.25521	0.128	B	0.23275	0.045	T	0.44034	-0.9354	10	0.62326	D	0.03	.	4.611	0.12402	0.0:0.5765:0.1608:0.2627	.	302	Q60I27	AL2CL_HUMAN	H	302	ENSP00000313670:Q302H;ENSP00000413223:Q302H	ENSP00000313670:Q302H	Q	-	3	2	ALS2CL	46700282	0.004000	0.15560	0.950000	0.38849	0.875000	0.50365	0.357000	0.20199	0.279000	0.22186	0.655000	0.94253	CAG		0.602	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		11	203	0	0	0	1	0	11	203					G	46725278	C	G	46725278	3	3	78	1	0	0	0	0	1	0	0	0	551	680	24	4	2027	4	ALS2CL	3	46725278	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08	8073839	46725278	151297152	4	1438											
SLIT2	9353	broad.mit.edu	37	4	20555525	20555525	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr4:20555525G>C	ENST00000504154.1	+	26	2911	c.2659G>C	c.(2659-2661)Gct>Cct	p.A887P	SLIT2_ENST00000273739.5_Missense_Mutation_p.A891P|SLIT2_ENST00000503837.1_Missense_Mutation_p.A883P|SLIT2_ENST00000503823.1_Missense_Mutation_p.A879P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	887	LRRCT 4.				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						TGCTCGTTGTGCTGGTCCTGG	0.408																																						uc003gpr.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.(2659-2661)Gct>Cct		Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.							139	131	134					4																	20555525		2203	4300	6503	SO:0001583	missense	9353				Roundabout signaling pathway|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|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	g.chr4:20555525G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2659G>C	4.37:g.20555525G>C	ENSP00000422591:p.Ala887Pro		Somatic				SLIT2_uc003gps.1_Missense_Mutation_p.A879P	p.A887P	NM_004787	NP_004778	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			25	2863	+			887			LRRCT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2659G>C	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824174|2.824174	0.50739|0.50739	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508|ENST00000509941	D;D;D;D;D|D	0.90444|0.88896	-1.61;-1.63;-1.52;-1.58;-2.67|-2.44	5.13|5.13	4.27|4.27	0.50696|0.50696	Cysteine-rich flanking region, C-terminal (2);|.	0.220708|.	0.47455|.	D|.	0.000231|.	D|D	0.93216|0.93216	0.7839|0.7839	M|M	0.83223|0.83223	2.63|2.63	0.51482|0.51482	D|D	0.999923|0.999923	P;P|.	0.50943|.	0.916;0.94|.	P;P|.	0.56398|.	0.466;0.797|.	D|D	0.93801|0.93801	0.7101|0.7101	10|7	0.59425|0.87932	D|D	0.04|0	.|.	13.0085|13.0085	0.58718|0.58718	0.0:0.0:0.7062:0.2938|0.0:0.0:0.7062:0.2938	.|.	879;887|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	P|S	879;887;891;883;883;88|17	ENSP00000427548:A879P;ENSP00000422591:A887P;ENSP00000273739:A891P;ENSP00000422261:A883P;ENSP00000421975:A88P|ENSP00000425609:C17S	ENSP00000273739:A891P|ENSP00000425609:C17S	A|C	+|+	1|2	0|0	SLIT2|SLIT2	20164623|20164623	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.937000|0.937000	0.57800|0.57800	4.330000|4.330000	0.59266|0.59266	1.264000|1.264000	0.44198|0.44198	0.460000|0.460000	0.39030|0.39030	GCT|TGC		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	94	0	0	0	1	0	4	94					C	20555525	G	C	20555525	3	2	78	1	0	0	0	0	1	0	0	0	14740	1319	46	4	2761	4	SLIT2	4	20555525	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		20555525	170598751	5	1439											
ADAMTS19	171019	broad.mit.edu	37	5	128956351	128956351	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:128956351G>C	ENST00000274487.4	+	9	1646	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	501	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATCGTGTGCTGATGGTCTTCA	0.358																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1501-1503)Gat>Cat		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							158	143	148					5																	128956351		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128956351G>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1501G>C	5.37:g.128956351G>C	ENSP00000274487:p.Asp501His		Somatic				ADAMTS19_uc010jdh.1_Non-coding_Transcript	p.D501H	NM_133638	NP_598377	WXS	Illumina GAIIx	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	8	1501	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	501			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1501G>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156141	0.57259	.	.	ENSG00000145808	ENST00000274487	D	0.87179	-2.22	4.51	3.64	0.41730	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.214099	0.39544	N	0.001322	D	0.88727	0.6515	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.75484	0.986	D	0.87454	0.2403	9	.	.	.	.	13.731	0.62787	0.0758:0.0:0.9242:0.0	.	501	Q8TE59	ATS19_HUMAN	H	501	ENSP00000274487:D501H	.	D	+	1	0	ADAMTS19	128984250	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.384000	0.66225	1.493000	0.48517	-0.150000	0.13652	GAT		0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		8	111	0	0	0	1	0	8	111					C	128956351	G	C	128956351	3	2	78	1	0	0	0	0	1	0	0	0	264	1290	45	4	1535	4	ADAMTS19	5	128956351	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		128956351	51958909	6	1440											
CANX	821	broad.mit.edu	37	5	179150714	179150714	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:179150714G>T	ENST00000247461.4	+	12	1652	c.1452G>T	c.(1450-1452)tgG>tgT	p.W484C	CANX_ENST00000504734.1_Missense_Mutation_p.W484C|CANX_ENST00000415618.2_Missense_Mutation_p.W519C|CANX_ENST00000452673.2_Missense_Mutation_p.W484C|CANX_ENST00000512607.2_Missense_Mutation_p.W376C	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	484					aging (GO:0007568)|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)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	CGTGGCTGTGGGTAGTCTATA	0.458																																						uc011dgp.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(1555-1557)tgG>tgT		Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						145	144	144					5																	179150714		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179150714G>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1452G>T	5.37:g.179150714G>T	ENSP00000247461:p.Trp484Cys		Somatic				CANX_uc003mkk.3_Missense_Mutation_p.W484C|CANX_uc003mkl.3_Missense_Mutation_p.W484C|CANX_uc011dgq.2_Missense_Mutation_p.W376C	p.W519C	NM_001746	NP_001737	WXS	Illumina GAIIx	Phase_I	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1632	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	484					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1557G>T	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295543	0.60086	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.59772	0.29;0.24;0.29;0.29;0.4	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.82884	-0.0236	10	0.87932	D	0	-7.3823	19.8993	0.96980	0.0:0.0:1.0:0.0	.	519;484	B4DGP8;P27824	.;CALX_HUMAN	C	484;519;484;484;376	ENSP00000424063:W484C;ENSP00000394817:W519C;ENSP00000391646:W484C;ENSP00000247461:W484C;ENSP00000423588:W376C	ENSP00000247461:W484C	W	+	3	0	CANX	179083320	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	9.833000	0.99426	2.807000	0.96579	0.555000	0.69702	TGG		0.458	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		32	80	0	0	0	1	0	32	80					T	179150714	G	T	179150714	3	4	78	1	0	0	0	0	1	0	0	0	2618	1241	43	4	1494	4	CANX	5	179150714	Missense_Mutation	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08	50194363	179150714	1764546	7	1441											
VPS52	6293	broad.mit.edu	37	6	33232649	33232649	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:33232649C>T	ENST00000445902.2	-	13	1528	c.1310G>A	c.(1309-1311)tGc>tAc	p.C437Y	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.C312Y	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	437					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGCATCGTAGCAGTCAGCTAG	0.438																																						uc003odm.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1309-1311)tGc>tAc		Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.							287	264	272					6																	33232649		1511	2709	4220	SO:0001583	missense	6293				protein transport	Golgi apparatus|endosome membrane		g.chr6:33232649C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1310G>A	6.37:g.33232649C>T	ENSP00000409952:p.Cys437Tyr		Somatic				VPS52_uc003odn.1_Missense_Mutation_p.C248Y	p.C437Y	NM_022553	NP_072047	WXS	Illumina GAIIx	Phase_I	Q8N1B4	VPS52_HUMAN			12	1520	-			437					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1310G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497897	0.85069	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.68135	-0.5489	9	0.25106	T	0.35	-16.1158	16.6301	0.85031	0.0:1.0:0.0:0.0	.	248;437	B3KMF7;Q8N1B4	.;VPS52_HUMAN	Y	437;415;312	.	ENSP00000414785:C415Y	C	-	2	0	VPS52	33340627	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.293000	0.72731	2.875000	0.98604	0.643000	0.83706	TGC		0.438	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		11	212	0	0	0	1	0	11	212					T	33232649	C	T	33232649	3	4	78	1	0	0	0	0	1	0	0	0	17211	710	25	2	893	2	VPS52	6	33232649	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08		33232649	137882418	8	1442											
C6orf97	80129	broad.mit.edu	37	6	151914317	151914317	+	Missense_Mutation	SNP	C	C	T	rs550166524		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:151914317C>T	ENST00000239374.7	+	8	1468	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	CCDC170_ENST00000367290.5_Missense_Mutation_p.R457W	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	457								p.R457W(1)									CTTTGACATGCGGCTGGACGT	0.443																																						uc003qol.3																			1	Substitution - Missense(1)	p.R457W(1)	large_intestine(1)								c.(1369-1371)Cgg>Tgg		Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.							105	97	99					6																	151914317		1915	4139	6054	SO:0001583	missense	80129							g.chr6:151914317C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1369C>T	6.37:g.151914317C>T	ENSP00000239374:p.Arg457Trp		Somatic					p.R457W	NM_025059	NP_079335	WXS	Illumina GAIIx	Phase_I	Q8IYT3	CF097_HUMAN			7	1458	+			457					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1369C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262719	0.59431	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09350	2.99;2.99	5.87	4.09	0.47781	.	0.277720	0.34777	N	0.003697	T	0.15262	0.0368	M	0.75447	2.3	0.42436	D	0.992693	D	0.76494	0.999	P	0.59221	0.854	T	0.01195	-1.1422	10	0.48119	T	0.1	-1.4138	9.9802	0.41809	0.29:0.643:0.0:0.0671	.	457	Q8IYT3	CF097_HUMAN	W	457	ENSP00000239374:R457W;ENSP00000356259:R457W	ENSP00000239374:R457W	R	+	1	2	C6orf97	151956010	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	1.863000	0.39459	0.927000	0.37143	-0.127000	0.14921	CGG		0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		7	69	0	0	0	1	0	7	69					T	151914317	C	T	151914317	3	4	78	1	0	0	0	0	1	0	0	0	2374	759	27	1	1399	1	C6orf97	6	151914317	Missense_Mutation	SNP	C	TCGA-DJ-A1QQ-01A-11D-A14W-08	118681668	151914317	19200750	9	1443											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	43	0	0	0	1	0	25	43					T	140453136	A	T	140453136	3	4	78	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		140453136	18685527	10	1444											
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						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)			TGACGAAGCCGGTGGCCGCCT	0.716																																						uc003zaa.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.(6805-6807)acC>acT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							36	36	36					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940615G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A			Somatic					p.T2269T	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	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)		0	6820	-	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)		2269					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6807C>T																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	39	0	0	0	1	0	4	39					A	144940615	G	A	144940615	2	1	78	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08		144940615	1423407	11	1445											
ZNF503	84858	broad.mit.edu	37	10	77158996	77159007	+	In_Frame_Del	DEL	GGCCGTTAGCGA	GGCCGTTAGCGA	-	rs535700950	byFrequency	TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr10:77158996_77159007delGGCCGTTAGCGA	ENST00000372524.4	-	2	1927_1938	c.1441_1452delTCGCTAACGGCC	c.(1441-1452)tcgctaacggccdel	p.SLTA481del	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.SLTA481del|ZNF503-AS2_ENST00000466942.2_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	481	Ala-rich.				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)					CAGCCGCGGCGGCCGTTAGCGAGGAGTGCACA	0.684																																						uc001jxg.3																			0				lung(4)|ovary(1)|skin(1)	6						c.(1441-1452)tcgctaacggccdel		Homo sapiens zinc finger protein 503 (ZNF503), mRNA.																																				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158996_77159007delGGCCGTTAGCGA	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1441_1452delTCGCTAACGGCC	10.37:g.77158996_77159007delGGCCGTTAGCGA	ENSP00000361602:p.Ser481_Ala484del		Somatic				ZNF503-AS2_uc010qlf.2_5'Flank	p.SLTA481del	NM_032772	NP_116161	WXS	Illumina GAIIx	Phase_I	Q96F45	ZN503_HUMAN			1	1777_1788	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		481			Ala-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.1441_1452delTCGCTAACGGCC	CCDS7350.1																																																																																				0.684	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		11	19						11	19	---	---	---	---	-	77159007	GGCCGTTAGCGA	-	77158996	7	5	78	1	0	1	0	1	0	0	0	0	17948	1103	39	0	492	0	ZNF503	10	77158996	In_Frame_Del	DEL	GGCCGTTAGCGA	TCGA-DJ-A1QQ-01A-11D-A14W-08		77158996	58375751	12	1446											
MMP3	4314	broad.mit.edu	37	11	102711322	102711322	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr11:102711322T>A	ENST00000299855.5	-	5	884	c.628A>T	c.(628-630)Acc>Tcc	p.T210S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	210					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AATAAATTGGTCCCTATTTAA	0.388																																						uc001phj.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(628-630)Acc>Tcc		Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	Marimastat(DB00786)|Simvastatin(DB00641)						75	75	75					11																	102711322		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102711322T>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.628A>T	11.37:g.102711322T>A	ENSP00000299855:p.Thr210Ser		Somatic					p.T210S	NM_002422	NP_002413	WXS	Illumina GAIIx	Phase_I	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	4	693	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	210					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.628A>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856497	0.17106	.	.	ENSG00000149968	ENST00000299855	T	0.21543	2.0	4.98	2.59	0.31030	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.216660	0.06490	N	0.734413	T	0.31104	0.0786	M	0.75615	2.305	0.09310	N	1	B	0.26147	0.143	B	0.33620	0.167	T	0.38607	-0.9653	10	0.54805	T	0.06	.	8.9501	0.35783	0.0:0.2817:0.0:0.7183	.	210	P08254	MMP3_HUMAN	S	210	ENSP00000299855:T210S	ENSP00000299855:T210S	T	-	1	0	MMP3	102216532	0.000000	0.05858	0.950000	0.38849	0.294000	0.27393	0.031000	0.13710	0.937000	0.37394	-0.370000	0.07254	ACC		0.388	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		18	48	0	0	0	1	0	18	48					A	102711322	T	A	102711322	3	1	78	1	0	0	0	0	1	0	0	0	9666	1667	58	5	829	5	MMP3	11	102711322	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		102711322	32295194	13	1447											
MYO9A	4649	broad.mit.edu	37	15	72190581	72190581	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr15:72190581A>T	ENST00000356056.5	-	25	4735	c.4263T>A	c.(4261-4263)ttT>ttA	p.F1421L	MYO9A_ENST00000566885.1_Missense_Mutation_p.F1041L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1402L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1421L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1421	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGGATATAAAAAAAAGTAG	0.398																																						uc002atl.4																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4261-4263)ttT>ttA		Homo sapiens myosin IXA (MYO9A), mRNA.							63	64	63					15																	72190581		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	g.chr15:72190581A>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4263T>A	15.37:g.72190581A>T	ENSP00000348349:p.Phe1421Leu		Somatic				MYO9A_uc010biq.3_Missense_Mutation_p.F1041L|MYO9A_uc002atn.1_Missense_Mutation_p.F1402L|MYO9A_uc002atk.3_Missense_Mutation_p.F145L|MYO9A_uc002atm.1_Missense_Mutation_p.F145L	p.F1421L	NM_006901	NP_008832	WXS	Illumina GAIIx	Phase_I	B2RTY4	MYO9A_HUMAN			24	4736	-			1421			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4263T>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111342	0.56398	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84070	-1.8;-1.8;-1.8	5.82	3.51	0.40186	.	.	.	.	.	D	0.83704	0.5312	L	0.43152	1.355	0.35150	D	0.76972	P;D;B	0.76494	0.89;0.999;0.278	B;D;B	0.68765	0.389;0.96;0.084	T	0.82606	-0.0374	9	0.25751	T	0.34	.	6.0857	0.19966	0.7161:0.0:0.2839:0.0	.	1402;1421;1421	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	L	1421;1421;1402	ENSP00000348349:F1421L;ENSP00000399162:F1421L;ENSP00000398250:F1402L	ENSP00000348349:F1421L	F	-	3	2	MYO9A	69977635	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.439000	0.44846	1.042000	0.40150	0.528000	0.53228	TTT		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		35	39	0	0	0	1	0	35	39					T	72190581	A	T	72190581	3	4	78	1	0	0	0	0	1	0	0	0	10084	11	1	5	3455	5	MYO9A	15	72190581	Missense_Mutation	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		72190581	30340811	14	1448											
PPL	5493	broad.mit.edu	37	16	4934851	4934851	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:4934851T>C	ENST00000345988.2	-	22	3894	c.3805A>G	c.(3805-3807)Atc>Gtc	p.I1269V	PPL_ENST00000590782.2_Missense_Mutation_p.I1267V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1269					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						AGCTGGTAGATCTCTAAATCA	0.507																																						uc002cyd.1																			0		p.E1268K(1)		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.(3805-3807)Atc>Gtc		Homo sapiens periplakin (PPL), mRNA.							186	182	184					16																	4934851		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934851T>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3805A>G	16.37:g.4934851T>C	ENSP00000340510:p.Ile1269Val		Somatic					p.I1269V	NM_002705	NP_002696	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			21	3895	-			1269					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3805A>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	t	11.01	1.514285	0.27123	.	.	ENSG00000118898	ENST00000345988	T	0.40756	1.02	5.62	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.41824	1.3	0.38881	D	0.95691	B	0.09022	0.002	B	0.12837	0.008	T	0.11792	-1.0573	10	0.32370	T	0.25	.	11.7088	0.51612	0.0:0.0698:0.0:0.9302	.	1269	O60437	PEPL_HUMAN	V	1269	ENSP00000340510:I1269V	ENSP00000340510:I1269V	I	-	1	0	PPL	4874852	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.372000	0.52387	0.940000	0.37473	0.529000	0.55759	ATC		0.507	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		10	168	0	0	0	1	0	10	168					C	4934851	T	C	4934851	3	2	78	1	0	0	0	0	1	0	0	0	12334	1435	50	3	1469	3	PPL	16	4934851	Missense_Mutation	SNP	T	TCGA-DJ-A1QQ-01A-11D-A14W-08		4934851	85419902	15	1449											
PKD1L2	114780	broad.mit.edu	37	16	81232604	81232604	+	RNA	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:81232604G>A	ENST00000525539.1	-	0	1205				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	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						ACGGTAGCGAGCCCTTTTGGG	0.532																																						uc002fgh.1																			0				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						c.(1204-1206)ggC>ggT		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							91	92	92					16																	81232604		1943	4151	6094			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81232604G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232604G>A			Somatic				PKD1L2_uc002fgj.3_Silent_p.G402G	p.G402G	NM_052892	NP_443124	WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			6	1206	-			402					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1206C>T																																																																																					0.532	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			38	56	0	0	0	1	0	38	56					A	81232604	G	A	81232604	1	1	78	0	1	0	0	0	0	0	0	0	11965	958	34	2		2	PKD1L2	16	81232604	RNA	SNP	G	TCGA-DJ-A1QQ-01A-11D-A14W-08	76297753	81232604	9122149	16	1450											
CACNB1	782	broad.mit.edu	37	17	37333711	37333711	+	Silent	SNP	A	A	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr17:37333711A>G	ENST00000394303.3	-	13	1431	c.1224T>C	c.(1222-1224)taT>taC	p.Y408Y	RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.Y408Y|CACNB1_ENST00000344140.5_Silent_p.Y453Y	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	408					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCCTTCCAATAGGCTTCCA	0.612																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1222-1224)taT>taC		Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						70	60	64					17																	37333711		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37333711A>G		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1224T>C	17.37:g.37333711A>G			Somatic				CACNB1_uc002hrl.1_Silent_p.Y180Y|CACNB1_uc002hrn.3_Silent_p.Y408Y|CACNB1_uc002hro.3_Silent_p.Y453Y	p.Y408Y	NM_000723	NP_000714	WXS	Illumina GAIIx	Phase_I	Q02641	CACB1_HUMAN			12	1432	-			408					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.1224T>C	CCDS42311.1																																																																																				0.612	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			11	17	0	0	0	1	0	11	17					G	37333711	A	G	37333711	2	3	78	1	0	0	0	0	0	0	0	1	2552	108	4	3		3	CACNB1	17	37333711	Silent	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		37333711	43861499	17	1451											
OR7G3	390883	broad.mit.edu	37	19	9236922	9236922	+	Silent	SNP	A	A	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr19:9236922A>G	ENST00000305444.2	-	1	704	c.705T>C	c.(703-705)taT>taC	p.Y235Y		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	235						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(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAAAGCTTTATACTTTCCAC	0.448																																						uc010xkl.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(703-705)taT>taC		Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.							99	103	102					19																	9236922		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236922A>G		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.705T>C	19.37:g.9236922A>G			Somatic					p.Y235Y	NM_001001958	NP_001001958	WXS	Illumina GAIIx	Phase_I	Q8NG95	OR7G3_HUMAN			0	705	-			235					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.705T>C	CCDS32899.1																																																																																				0.448	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			27	140	0	0	0	1	0	27	140					G	9236922	A	G	9236922	2	3	78	1	0	0	0	0	0	0	0	1	11224	456	16	3		3	OR7G3	19	9236922	Silent	SNP	A	TCGA-DJ-A1QQ-01A-11D-A14W-08		9236922	49892061	18	1452											
LRRC7	57554	broad.mit.edu	37	1	70505355	70505355	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr1:70505355C>T	ENST00000035383.5	+	19	3764	c.3734C>T	c.(3733-3735)tCa>tTa	p.S1245L	LRRC7_ENST00000310961.5_Missense_Mutation_p.S1250L|LRRC7_ENST00000415775.2_Missense_Mutation_p.S529L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1245						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACAAGCCATCAGATAACAGT	0.463																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3733-3735)tCa>tTa		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							93	88	90					1																	70505355		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505355C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3734C>T	1.37:g.70505355C>T	ENSP00000035383:p.Ser1245Leu		Somatic				LRRC7_uc009wbg.3_Missense_Mutation_p.S529L|LRRC7_uc001deq.3_Missense_Mutation_p.S486L	p.S1245L	NM_020794	NP_065845	WXS	Illumina GAIIx	Phase_I	Q96NW7	LRRC7_HUMAN			18	3764	+			1245					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3734C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400609	0.25291	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.39592	1.07;1.14;2.24	6.16	6.16	0.99307	.	0.208186	0.42682	D	0.000663	T	0.14399	0.0348	N	0.14661	0.345	0.41312	D	0.987116	B;B;P	0.35077	0.089;0.161;0.483	B;B;B	0.26969	0.075;0.053;0.057	T	0.07966	-1.0745	10	0.72032	D	0.01	.	13.0629	0.59018	0.0:0.9276:0.0:0.0724	.	529;1245;1245	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	L	1250;1245;529;1068	ENSP00000309245:S1250L;ENSP00000035383:S1245L;ENSP00000394867:S529L	ENSP00000035383:S1245L	S	+	2	0	LRRC7	70277943	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.677000	0.68142	2.937000	0.99478	0.650000	0.86243	TCA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		31	32	0	0	0	1	0	31	32					T	70505355	C	T	70505355	3	4	79	1	0	0	0	0	1	0	0	0	9020	838	29	2	3808	2	LRRC7	1	70505355	Missense_Mutation	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		70505355	178745266	1	1453											
SORBS2	8470	broad.mit.edu	37	4	186545308	186545308	+	Silent	SNP	C	C	G	rs376629500		TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr4:186545308C>G	ENST00000284776.7	-	13	1772	c.1263G>C	c.(1261-1263)gcG>gcC	p.A421A	SORBS2_ENST00000418609.1_Silent_p.A325A|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Silent_p.A521A|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Silent_p.A421A	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	421					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGACCCCCACGCCATGGGGC	0.592																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyg.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1603-1605)gcG>gcC		Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.							64	61	62					4																	186545308		2203	4300	6503	SO:0001819	synonymous_variant	8470					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545308C>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1263G>C	4.37:g.186545308C>G			Somatic				SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.A521A|SORBS2_uc003iyl.3_Silent_p.A421A|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.A325A|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	p.A535A	NM_021069	NP_066547	WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	12	1637	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	421					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1605G>C	CCDS3845.1																																																																																				0.592	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		3	43	0	0	0	1	0	3	43					G	186545308	C	G	186545308	2	3	79	1	0	0	0	0	0	0	0	1	14928	523	19	4		4	SORBS2	4	186545308	Silent	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		186545308	4608968	2	1454											
MTMR12	54545	broad.mit.edu	37	5	32239191	32239191	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr5:32239191C>G	ENST00000382142.3	-	13	1430	c.1260G>C	c.(1258-1260)caG>caC	p.Q420H	MTMR12_ENST00000280285.5_Missense_Mutation_p.Q420H|MTMR12_ENST00000264934.5_Missense_Mutation_p.Q420H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	420	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGATGAGGCTCTGGAAACCAA	0.542																																						uc003jhq.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1258-1260)caG>caC		Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.							90	79	83					5																	32239191		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32239191C>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1260G>C	5.37:g.32239191C>G	ENSP00000371577:p.Gln420His		Somatic				MTMR12_uc010iuk.3_Missense_Mutation_p.Q420H|MTMR12_uc010iul.3_Missense_Mutation_p.Q420H	p.Q420H	NM_001040446	NP_001035536	WXS	Illumina GAIIx	Phase_I	Q9C0I1	MTMRC_HUMAN			12	1430	-			420			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1260G>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513714	0.85389	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.91124	-2.79;-2.79;-2.79	5.54	4.67	0.58626	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.90922	3.16	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.91635	0.994;0.998;0.999	D	0.96912	0.9668	10	0.87932	D	0	.	14.5658	0.68176	0.0:0.9293:0.0:0.0707	.	420;420;420	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	H	420	ENSP00000280285:Q420H;ENSP00000371577:Q420H;ENSP00000264934:Q420H	ENSP00000264934:Q420H	Q	-	3	2	MTMR12	32274948	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.696000	0.68287	1.460000	0.47911	0.563000	0.77884	CAG		0.542	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		4	39	0	0	0	1	0	4	39					G	32239191	C	G	32239191	3	3	79	1	0	0	0	0	1	0	0	0	9941	912	32	4	999	4	MTMR12	5	32239191	Missense_Mutation	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		32239191	148676069	3	1455											
HEATR2	54919	broad.mit.edu	37	7	780548	780548	+	Silent	SNP	C	C	T			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr7:780548C>T	ENST00000297440.6	+	3	893	c.873C>T	c.(871-873)ctC>ctT	p.L291L	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Silent_p.L291L	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	291						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)		CTCTGCTGCTCAGTAGCCTCA	0.627																																						uc010krz.1																			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.(871-873)ctC>ctT		Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.							147	125	133					7																	780548		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:780548C>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.873C>T	7.37:g.780548C>T			Somatic				HEATR2_uc003siz.2_Silent_p.L159L	p.L291L	NM_017802	NP_060272	WXS	Illumina GAIIx	Phase_I	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)	2	893	+		Ovarian(82;0.0112)	291					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.873C>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	1.576	-0.532850	0.04112	.	.	ENSG00000164818	ENST00000437419;ENST00000440747	.	.	.	4.67	-2.58	0.06228	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.8395	7.7647	0.28972	0.067:0.5079:0.2505:0.1746	.	.	.	.	X	64;93	.	.	Q	+	1	0	HEATR2	747074	1.000000	0.71417	0.929000	0.37066	0.079000	0.17450	0.384000	0.20668	-0.486000	0.06744	-0.165000	0.13383	CAG		0.627	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		7	94	0	0	0	1	0	7	94					T	780548	C	T	780548	2	4	79	1	0	0	0	0	0	0	0	1	7028	813	29	2		2	HEATR2	7	780548	Silent	SNP	C	TCGA-DJ-A2PN-01A-21D-A19J-08		780548	158358115	4	1456											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	47	0	0	0	1	0	28	47					T	140453136	A	T	140453136	3	4	79	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PN-01A-21D-A19J-08	139672588	140453136	18685527	5	1457											
PDP1	54704	broad.mit.edu	37	8	94935010	94935010	+	Silent	SNP	G	G	A			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr8:94935010G>A	ENST00000297598.4	+	2	992	c.723G>A	c.(721-723)aaG>aaA	p.K241K	PDP1_ENST00000517764.1_Silent_p.K241K|PDP1_ENST00000396200.3_Silent_p.K266K|PDP1_ENST00000520728.1_Silent_p.K241K	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	241					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						ATGCCTTCAAGAGGCTTGATA	0.443																																						uc011lgn.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(898-900)aaG>aaA		Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							121	122	122					8																	94935010		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.chr8:94935010G>A	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.723G>A	8.37:g.94935010G>A			Somatic				PDP1_uc003ygf.3_Silent_p.K266K|PDP1_uc003yge.3_Silent_p.K241K|PDP1_uc010max.3_Silent_p.K266K|PDP1_uc011lgm.2_Silent_p.K241K|PDP1_uc022ayg.1_Silent_p.K241K	p.K300K	NM_001161778	NP_001155250	WXS	Illumina GAIIx	Phase_I	Q9P0J1	PDP1_HUMAN			1	949	+			241					B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	c.900G>A	CCDS6259.1																																																																																				0.443	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		40	53	0	0	0	1	0	40	53					A	94935010	G	A	94935010	2	1	79	1	0	0	0	0	0	0	0	1	11685	933	33	2		2	PDP1	8	94935010	Silent	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		94935010	51429012	6	1458											
AMIGO2	91523	broad.mit.edu	37	12	47472140	47472140	+	5'Flank	SNP	G	G	A	rs148297134	byFrequency	TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr12:47472140G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000321382.3_Missense_Mutation_p.P216S|AMIGO2_ENST00000429635.1_Missense_Mutation_p.P216S|AMIGO2_ENST00000266581.4_Missense_Mutation_p.P216S|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P216S			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TGTTTTCCTGGCACTAAATTT	0.428																																						uc001rpm.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(646-648)Cca>Tca		Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.		G	SER/PRO,SER/PRO	1,4405		0,1,2202	66	57	60		646,646	1.9	1.0	12	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense	AMIGO2	NM_001143668.1,NM_181847.4	74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	216/523,216/523	47472140	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472140G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472140G>A	Exception_encountered		Somatic				FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.P216S|AMIGO2_uc001rpl.3_Missense_Mutation_p.P216S|AMIGO2_uc021qxg.1_Missense_Mutation_p.P216S	p.P216S	NM_001143668	NP_862830	WXS	Illumina GAIIx	Phase_I	Q86SJ2	AMGO2_HUMAN			2	1301	-	Renal(347;0.138)|Lung SC(27;0.192)		216					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.646C>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545449	0.45280	2.27E-4	0.0	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02216	4.39;4.39;4.39;4.39	4.92	1.86	0.25419	.	0.119921	0.56097	N	0.000023	T	0.03520	0.0101	M	0.72894	2.215	0.53688	D	0.99997	B	0.14805	0.011	B	0.18871	0.023	T	0.30592	-0.9973	10	0.54805	T	0.06	-6.6478	7.5084	0.27558	0.1575:0.138:0.7045:0.0	.	216	Q86SJ2	AMGO2_HUMAN	S	216	ENSP00000266581:P216S;ENSP00000449034:P216S;ENSP00000406020:P216S;ENSP00000320848:P216S	ENSP00000266581:P216S	P	-	1	0	AMIGO2	45758407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.399000	0.59703	0.747000	0.32809	0.655000	0.94253	CCA		0.428	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		3	43	0	0	0	1	0	3	43					A	47472140	G	A	47472140	1	1	79	0	1	0	0	0	0	0	0	0	576	1203	42	2		2	AMIGO2	12	47472140	5'Flank	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		47472140	86379755	7	1459											
PIBF1	10464	broad.mit.edu	37	13	73468026	73468026	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr13:73468026A>T	ENST00000326291.6	+	11	1765	c.1427A>T	c.(1426-1428)gAa>gTa	p.E476V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	476						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CTGCAAGAGGAAACAGCAAGA	0.338																																						uc001vjc.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(1426-1428)gAa>gTa		Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.							92	92	92					13																	73468026		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73468026A>T	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1427A>T	13.37:g.73468026A>T	ENSP00000317144:p.Glu476Val		Somatic				PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.E476V|PIBF1_uc010aep.3_Intron	p.E476V	NM_006346	NP_006337	WXS	Illumina GAIIx	Phase_I	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	10	1732	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	476					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1427A>T	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167539	0.78339	.	.	ENSG00000083535	ENST00000326291	T	0.44482	0.92	5.0	5.0	0.66597	.	0.050253	0.85682	D	0.000000	T	0.62877	0.2464	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66933	-0.5798	10	0.72032	D	0.01	-19.6889	14.9973	0.71443	1.0:0.0:0.0:0.0	.	476;476	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	V	476	ENSP00000317144:E476V	ENSP00000317144:E476V	E	+	2	0	PIBF1	72366027	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.237000	0.72345	2.005000	0.58758	0.528000	0.53228	GAA		0.338	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		27	32	0	0	0	1	0	27	32					T	73468026	A	T	73468026	3	4	79	1	0	0	0	0	1	0	0	0	11879	246	9	5	1465	5	PIBF1	13	73468026	Missense_Mutation	SNP	A	TCGA-DJ-A2PN-01A-21D-A19J-08		73468026	41701852	8	1460											
SLC8A2	6543	broad.mit.edu	37	19	47935698	47935698	+	Silent	SNP	G	G	A			TCGA-DJ-A2PN-01A-21D-A19J-08	TCGA-DJ-A2PN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21790cd9-ca3e-4af4-bd4d-cba0375dbe9b	8be82b32-7274-49fe-a25d-25f462b502c0	g.chr19:47935698G>A	ENST00000236877.6	-	9	2510	c.2115C>T	c.(2113-2115)gaC>gaT	p.D705D	SLC8A2_ENST00000539381.1_Silent_p.D168D|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Silent_p.D461D	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	705					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCCTCGTCCCCTGTGG	0.592																																						uc010ele.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2113-2115)gaC>gaT		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.							63	66	65					19																	47935698		2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935698G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2115C>T	19.37:g.47935698G>A			Somatic				SLC8A2_uc002pgx.3_Silent_p.D705D|SLC8A2_uc010xyq.2_Silent_p.D461D|SLC8A2_uc010xyr.2_Silent_p.D168D	p.D705D			WXS	Illumina GAIIx	Phase_I	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	7	2131	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	705					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.2115C>T	CCDS33065.1																																																																																				0.592	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			5	82	0	0	0	1	0	5	82					A	47935698	G	A	47935698	2	1	79	1	0	0	0	0	0	0	0	1	14707	1136	40	1		1	SLC8A2	19	47935698	Silent	SNP	G	TCGA-DJ-A2PN-01A-21D-A19J-08		47935698	11193285	9	1461											
VPS13D	55187	broad.mit.edu	37	1	12416017	12416017	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:12416017C>G	ENST00000358136.3	+	48	9871	c.9741C>G	c.(9739-9741)aaC>aaG	p.N3247K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N3222K	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)		GAACCCAAAACTATATGGTGA	0.438																																						uc001atv.3																			0		p.Q3246P(1)		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.(9739-9741)aaC>aaG		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							105	98	100					1																	12416017		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12416017C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9741C>G	1.37:g.12416017C>G	ENSP00000350854:p.Asn3247Lys		Somatic				VPS13D_uc001atw.3_Missense_Mutation_p.N3222K|VPS13D_uc001atx.3_Missense_Mutation_p.N2434K	p.N3247K	NM_015378	NP_056193	WXS	Illumina GAIIx	Phase_I	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)	47	9882	+	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)	3246						Missense_Mutation	SNP	ENST00000358136.3	37	c.9741C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.481464|4.481464	0.84747|0.84747	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.53206|.	0.63;0.63|.	5.89|5.89	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;P|.	0.48834|.	0.916;0.863|.	P;B|.	0.46362|.	0.514;0.428|.	T|T	0.55927|0.55927	-0.8063|-0.8063	10|5	0.22109|.	T|.	0.4|.	.|.	15.0319|15.0319	0.71713|0.71713	0.0:0.932:0.0:0.068|0.0:0.932:0.0:0.068	.|.	3222;3246|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	K|S	3222;3247|2069	ENSP00000348666:N3222K;ENSP00000350854:N3247K|.	ENSP00000348666:N3222K|.	N|T	+|+	3|2	2|0	VPS13D|VPS13D	12338604|12338604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.754000|5.754000	0.68743|0.68743	1.505000|1.505000	0.48720|0.48720	0.655000|0.655000	0.94253|0.94253	AAC|ACT		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	125	0	0	0	1	0	5	125					G	12416017	C	G	12416017	3	3	80	1	0	0	0	0	1	0	0	0	17189	564	20	4	9927	4	VPS13D	1	12416017	Missense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08		12416017	236834604	1	1462											
ADAM15	8751	broad.mit.edu	37	1	155026852	155026852	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:155026852A>G	ENST00000356955.2	+	6	583	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.Q145R|ADAM15_ENST00000355956.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000531455.1_Missense_Mutation_p.Q171R|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000368412.3_Missense_Mutation_p.Q161R|ADAM15_ENST00000271836.6_Missense_Mutation_p.Q161R|ADAM15_ENST00000449910.2_Missense_Mutation_p.Q161R|ADAM15_ENST00000360674.4_Missense_Mutation_p.Q161R|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	161					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			GGGGACCTTCAGGGTCCTCCC	0.547																																						uc001fgr.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(481-483)cAg>cGg		Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.							53	60	58					1																	155026852		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	g.chr1:155026852A>G	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.482A>G	1.37:g.155026852A>G	ENSP00000349436:p.Gln161Arg		Somatic				LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.Q145R|ADAM15_uc010peu.1_Missense_Mutation_p.Q178R|ADAM15_uc001fgx.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgs.1_Missense_Mutation_p.Q161R|ADAM15_uc010pev.1_Missense_Mutation_p.Q171R|ADAM15_uc001fgu.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgv.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgw.1_Missense_Mutation_p.Q161R	p.Q161R	NM_207197	NP_997080	WXS	Illumina GAIIx	Phase_I	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		5	583	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		161					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.482A>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	A	1.097	-0.662136	0.03454	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00864	5.76;5.76;5.76;5.68;5.6;5.76;5.74;5.76	4.76	-1.8	0.07907	.	0.683951	0.12134	N	0.496540	T	0.00552	0.0018	L	0.45581	1.43	0.09310	N	0.999999	B;B;B;B;P;B;B;B;B;P	0.39551	0.018;0.018;0.006;0.399;0.628;0.014;0.014;0.014;0.399;0.678	B;B;B;B;B;B;B;B;P;P	0.48598	0.026;0.026;0.016;0.396;0.396;0.015;0.015;0.015;0.583;0.531	T	0.47328	-0.9126	10	0.33141	T	0.24	.	4.4022	0.11392	0.3939:0.3295:0.2766:0.0	.	171;178;145;161;161;161;161;161;161;161	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	R	161;161;161;161;161;161;161;171	ENSP00000349436:Q161R;ENSP00000403843:Q161R;ENSP00000352226:Q161R;ENSP00000353892:Q161R;ENSP00000357397:Q161R;ENSP00000348227:Q161R;ENSP00000271836:Q161R;ENSP00000432927:Q171R	ENSP00000271836:Q161R	Q	+	2	0	ADAM15	153293476	0.000000	0.05858	0.002000	0.10522	0.140000	0.21249	-1.172000	0.03112	-0.173000	0.10761	-0.429000	0.05907	CAG		0.547	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		4	199	0	0	0	1	0	4	199					G	155026852	A	G	155026852	3	3	80	1	0	0	0	0	1	0	0	0	237	188	7	3	504	3	ADAM15	1	155026852	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	142610835	155026852	94223769	2	1463											
ARHGAP30	257106	broad.mit.edu	37	1	161024210	161024210	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:161024210T>A	ENST00000368013.3	-	5	802	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q161L|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	161	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CATGTTGGTCTGGGCACTGAA	0.597																																						uc001fxl.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(481-483)cAg>cTg		Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.							106	87	93					1																	161024210		2202	4300	6502	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161024210T>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.482A>T	1.37:g.161024210T>A	ENSP00000356992:p.Gln161Leu		Somatic				ARHGAP30_uc001fxk.3_Missense_Mutation_p.Q161L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.Q7L|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q7L	p.Q161L	NM_001025598	NP_001020769	WXS	Illumina GAIIx	Phase_I	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		4	828	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		161			Rho-GAP.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.482A>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189102	0.78789	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017	T;T	0.18016	2.24;2.24	5.47	5.47	0.80525	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.136109	0.49916	D	0.000136	T	0.07818	0.0196	N	0.12637	0.245	0.80722	D	1	P;B	0.37781	0.608;0.216	B;B	0.44224	0.444;0.234	T	0.17167	-1.0378	10	0.66056	D	0.02	.	13.5662	0.61819	0.0:0.0:0.0:1.0	.	161;161	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	L	161;161;13	ENSP00000356995:Q161L;ENSP00000356992:Q161L	ENSP00000356992:Q161L	Q	-	2	0	ARHGAP30	159290834	0.981000	0.34729	0.998000	0.56505	0.993000	0.82548	1.585000	0.36600	2.081000	0.62600	0.524000	0.50904	CAG		0.597	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		13	39	0	0	0	1	0	13	39					A	161024210	T	A	161024210	3	1	80	1	0	0	0	0	1	0	0	0	879	1580	55	5	2855	5	ARHGAP30	1	161024210	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08	5997358	161024210	88226411	3	1464											
USH2A	7399	broad.mit.edu	37	1	216251673	216251673	+	Missense_Mutation	SNP	C	C	T	rs541275063	byFrequency	TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:216251673C>T	ENST00000307340.3	-	27	5716	c.5330G>A	c.(5329-5331)cGg>cAg	p.R1777Q	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1777Q|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1777	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATTTAACCGGAAGGTCAA	0.373										HNSCC(13;0.011)			C|||	2	0.000399361	0.0015	0	5008	,	,		18311	0		0	False		,,,				2504	0					uc001hku.1																			0		p.F1776Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5329-5331)cGg>cAg		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							204	224	217					1																	216251673		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251673C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5330G>A	1.37:g.216251673C>T	ENSP00000305941:p.Arg1777Gln	HNSCC(13;0.011)	Somatic					p.R1777Q	NM_206933	NP_996816	WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5717	-			1777			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5330G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857576	0.32791	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78246	-1.16;-1.16	5.58	-2.94	0.05581	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.073040	0.07458	N	0.900087	T	0.56455	0.1986	N	0.20807	0.61	0.09310	N	1	B	0.22346	0.068	B	0.13407	0.009	T	0.35574	-0.9783	10	0.16896	T	0.51	.	5.5354	0.17007	0.3139:0.3219:0.0:0.3642	.	1777	O75445	USH2A_HUMAN	Q	1777	ENSP00000305941:R1777Q;ENSP00000355910:R1777Q	ENSP00000305941:R1777Q	R	-	2	0	USH2A	214318296	0.953000	0.32496	0.031000	0.17742	0.987000	0.75469	0.152000	0.16302	-0.352000	0.08237	-0.142000	0.14014	CGG		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	712	0	0	0	1	0	5	712					T	216251673	C	T	216251673	3	4	80	1	0	0	0	0	1	0	0	0	17033	652	23	1	10462	1	USH2A	1	216251673	Missense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08	55227463	216251673	32998948	4	1465											
COL6A3	1293	broad.mit.edu	37	2	238280362	238280362	+	Intron	SNP	G	G	A	rs370194938|rs368338594		TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr2:238280362G>A	ENST00000295550.4	-	9	4738				COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.A1026V|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1227V|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACCTCCGACGCCCCCATCTC	0.478																																						uc002vwq.3																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3679-3681)gCg>gTg		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA.		G	,VAL/ALA,VAL/ALA,,	0,4406		0,0,2203	71	79	76		,3077,3680,,	-3.3	0.0	2		76	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,intron,intron	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	,64,64,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,1026/1037,1227/1238,,	238280362	1,13005	2203	4300	6503	SO:0001627	intron_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280362G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4285+12C>T	2.37:g.238280362G>A			Somatic				COL6A3_uc002vwl.2_Intron|COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwr.3_Missense_Mutation_p.A1026V	p.A1227V	NM_057165	NP_476506	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3965	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1434			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3680C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	1.522	-0.546659	0.04024	0.0	1.16E-4	ENSG00000163359	ENST00000392004;ENST00000392003	T;T	0.61158	0.27;0.13	1.65	-3.29	0.05017	.	.	.	.	.	T	0.32285	0.0824	N	0.08118	0	0.09310	N	1	P;P	0.40578	0.718;0.722	B;B	0.39299	0.283;0.296	T	0.35895	-0.9770	9	0.54805	T	0.06	.	5.9709	0.19351	0.2324:0.2927:0.4749:0.0	.	1026;1227	A8MT30;E9PGQ9	.;.	V	1227;1026	ENSP00000375861:A1227V;ENSP00000375860:A1026V	ENSP00000375860:A1026V	A	-	2	0	COL6A3	237945101	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.339000	0.00184	-3.258000	0.00049	GCG		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	246	0	0	0	1	0	5	246					A	238280362	G	A	238280362	1	1	80	0	1	0	0	0	0	0	0	0	3701	1087	38	1		1	COL6A3	2	238280362	Intron	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		238280362	4919011	5	1466											
ADCK2	90956	broad.mit.edu	37	7	140374545	140374545	+	Silent	SNP	G	G	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140374545G>C	ENST00000072869.4	+	2	1246	c.1068G>C	c.(1066-1068)ctG>ctC	p.L356L	ADCK2_ENST00000476491.1_Silent_p.L356L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	356	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TTGAGAAGCTGATGGTCCAAC	0.458																																						uc003vvy.1																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1066-1068)ctG>ctC		Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.							125	107	113					7																	140374545		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374545G>C	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1068G>C	7.37:g.140374545G>C			Somatic				ADCK2_uc003vvz.3_Silent_p.L356L	p.L356L	NM_052853	NP_443085	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			1	1246	+	Melanoma(164;0.00956)		356			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1068G>C	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139494	0.21205	.	.	ENSG00000133597	ENST00000483369	.	.	.	5.49	1.66	0.24008	.	.	.	.	.	T	0.54255	0.1847	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41928	-0.9481	4	.	.	.	-21.299	6.854	0.24030	0.0:0.4166:0.368:0.2153	.	.	.	.	H	194	.	.	D	+	1	0	ADCK2	140021014	0.996000	0.38824	0.999000	0.59377	0.989000	0.77384	0.466000	0.22019	0.097000	0.17492	-0.165000	0.13383	GAT		0.458	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		16	27	0	0	0	1	0	16	27					C	140374545	G	C	140374545	2	2	80	1	0	0	0	0	0	0	0	1	289	1277	45	4		4	ADCK2	7	140374545	Silent	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		140374545	18764118	6	1467											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	86	0	0	0	1	0	41	86					T	140453136	A	T	140453136	3	4	80	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	78591	140453136	18685527	7	1468											
NFX1	4799	broad.mit.edu	37	9	33294604	33294604	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr9:33294604A>G	ENST00000379540.3	+	2	274	c.212A>G	c.(211-213)cAt>cGt	p.H71R	NFX1_ENST00000379521.4_Missense_Mutation_p.H71R|NFX1_ENST00000318524.6_Missense_Mutation_p.H71R	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	71					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)		GTTCATCAGCATAGTTATCAT	0.453																																						uc003zsr.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.(211-213)cAt>cGt		Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.							169	172	171					9																	33294604		2203	4300	6503	SO:0001583	missense	4799				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.chr9:33294604A>G	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.212A>G	9.37:g.33294604A>G	ENSP00000368856:p.His71Arg		Somatic				NFX1_uc011lnw.2_Missense_Mutation_p.H71R|NFX1_uc003zso.3_Missense_Mutation_p.H71R|NFX1_uc003zsp.2_Missense_Mutation_p.H71R|NFX1_uc010mjr.2_Missense_Mutation_p.H71R|NFX1_uc003zsq.3_Missense_Mutation_p.H71R	p.H71R	NM_002504	NP_002495	WXS	Illumina GAIIx	Phase_I	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	1	365	+			71					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.212A>G	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	4.777	0.144520	0.09134	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.21031	2.35;2.03;2.03	5.31	2.92	0.33932	.	0.474887	0.21097	N	0.080226	T	0.11281	0.0275	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.12013	0.001;0.0;0.0;0.005	B;B;B;B	0.09377	0.004;0.001;0.003;0.004	T	0.21621	-1.0240	10	0.66056	D	0.02	.	1.6876	0.02845	0.557:0.1793:0.0916:0.1721	.	71;71;71;71	F5GXD0;Q12986;Q12986-2;Q12986-3	.;NFX1_HUMAN;.;.	R	71	ENSP00000368856:H71R;ENSP00000368836:H71R;ENSP00000317695:H71R	ENSP00000317695:H71R	H	+	2	0	NFX1	33284604	0.001000	0.12720	0.828000	0.32881	0.601000	0.36947	0.285000	0.18883	0.810000	0.34279	0.450000	0.29827	CAT		0.453	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			7	333	0	0	0	1	0	7	333					G	33294604	A	G	33294604	3	3	80	1	0	0	0	0	1	0	0	0	10387	217	8	3	218	3	NFX1	9	33294604	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		33294604	107918827	8	1469											
C2CD3	26005	broad.mit.edu	37	11	73879565	73879565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr11:73879565C>T	ENST00000334126.7	-	2	375	c.149G>A	c.(148-150)tGg>tAg	p.W50*	C2CD3_ENST00000539061.1_Nonsense_Mutation_p.W50*|C2CD3_ENST00000313663.7_Nonsense_Mutation_p.W50*|PPME1_ENST00000328257.8_5'Flank|PPME1_ENST00000398427.4_5'Flank			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	50					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAATCTTCCATATGACTCT	0.458																																						uc001ouu.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(148-150)tGg>tAg		Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.							166	161	162					11																	73879565		2200	4293	6493	SO:0001587	stop_gained	26005					centrosome		g.chr11:73879565C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.149G>A	11.37:g.73879565C>T	ENSP00000334379:p.Trp50*		Somatic				PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Nonsense_Mutation_p.W50*	p.W50*	NM_015531	NP_056346	WXS	Illumina GAIIx	Phase_I	Q4AC94	C2CD3_HUMAN			1	376	-	Breast(11;4.16e-06)		50					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	ENST00000334126.7	37	c.149G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.394499	0.96009	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061;ENST00000535954	.	.	.	5.57	4.66	0.58398	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8029	12.332	0.55046	0.0:0.9176:0.0:0.0824	.	.	.	.	X	50;50;50;50;50;92	.	ENSP00000289350:W50X	W	-	2	0	C2CD3	73557213	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.944000	0.75940	1.355000	0.45865	0.655000	0.94253	TGG		0.458	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		7	256	0	0	0	1	0	7	256					T	73879565	C	T	73879565	4	4	80	1	0	0	0	0	0	1	0	0	2154	595	21	2	5862	2	C2CD3	11	73879565	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PO-01A-21D-A19J-08		73879565	61126951	9	1470											
SOX5	6660	broad.mit.edu	37	12	23696258	23696258	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:23696258T>C	ENST00000451604.2	-	13	1759	c.1658A>G	c.(1657-1659)gAa>gGa	p.E553G	SOX5_ENST00000537393.1_Missense_Mutation_p.E518G|SOX5_ENST00000545921.1_Missense_Mutation_p.E543G|SOX5_ENST00000546136.1_Missense_Mutation_p.E540G|SOX5_ENST00000541536.1_Missense_Mutation_p.E432G|SOX5_ENST00000309359.1_Missense_Mutation_p.E540G|SOX5_ENST00000381381.2_Missense_Mutation_p.E432G|SOX5_ENST00000396007.2_Missense_Mutation_p.E167G			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	553					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TATGTGGGGTTCATTGCTACC	0.458																																						uc001rfw.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1657-1659)gAa>gGa		Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.							182	161	168					12																	23696258		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696258T>C	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1658A>G	12.37:g.23696258T>C	ENSP00000398273:p.Glu553Gly		Somatic				SOX5_uc001rfx.3_Missense_Mutation_p.E540G|SOX5_uc001rfy.3_Missense_Mutation_p.E432G|SOX5_uc001rfv.3_Missense_Mutation_p.E167G|SOX5_uc010siv.2_Missense_Mutation_p.E540G|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.E505G	p.E553G	NM_006940	NP_694534	WXS	Illumina GAIIx	Phase_I	P35711	SOX5_HUMAN			12	1760	-			553					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1658A>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958616	0.92726	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.97455	-4.38;-4.38;-4.31;-4.39;-4.38;-4.31;-4.36;-4.39	6.17	6.17	0.99709	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.71036	2.16	0.51012	D	0.999902	D;D;D;D	0.76494	0.999;0.989;0.999;0.998	D;D;D;D	0.81914	0.995;0.969;0.989;0.957	D	0.98655	1.0681	10	0.52906	T	0.07	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	518;432;553;167	F5H0I3;P35711-4;P35711;P35711-3	.;.;SOX5_HUMAN;.	G	540;540;432;553;505;518;432;167;543	ENSP00000437487:E540G;ENSP00000308927:E540G;ENSP00000370788:E432G;ENSP00000398273:E553G;ENSP00000439832:E518G;ENSP00000441973:E432G;ENSP00000379328:E167G;ENSP00000443520:E543G	ENSP00000308927:E540G	E	-	2	0	SOX5	23587525	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	8.026000	0.88783	2.371000	0.80710	0.533000	0.62120	GAA		0.458	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		5	210	0	0	0	1	0	5	210					C	23696258	T	C	23696258	3	2	80	1	0	0	0	0	1	0	0	0	14954	1783	62	3	645	3	SOX5	12	23696258	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08		23696258	110155637	10	1471											
PAWR	5074	broad.mit.edu	37	12	79990400	79990400	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:79990400T>C	ENST00000328827.4	-	5	1094	c.722A>G	c.(721-723)tAt>tGt	p.Y241C		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	241					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTTCGAGAATATCTACTTGA	0.358																																						uc001syx.3																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(721-723)tAt>tGt		Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.							102	97	99					12																	79990400		2203	4300	6503	SO:0001583	missense	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:79990400T>C	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.722A>G	12.37:g.79990400T>C	ENSP00000328088:p.Tyr241Cys		Somatic					p.Y241C	NM_002583	NP_002574	WXS	Illumina GAIIx	Phase_I	Q96IZ0	PAWR_HUMAN			4	1008	-			241					O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	37	c.722A>G	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023211	0.54683	.	.	ENSG00000177425	ENST00000328827	T	0.18960	2.18	5.51	-0.0393	0.13876	.	0.734850	0.12666	N	0.449235	T	0.28300	0.0699	L	0.43152	1.355	0.35779	D	0.821481	D	0.63046	0.992	P	0.55999	0.789	T	0.26883	-1.0090	9	.	.	.	-0.0346	11.2479	0.49008	0.4913:0.0:0.0:0.5087	.	241	Q96IZ0	PAWR_HUMAN	C	241	ENSP00000328088:Y241C	.	Y	-	2	0	PAWR	78514531	1.000000	0.71417	0.844000	0.33320	0.796000	0.44982	1.731000	0.38135	-0.247000	0.09597	-0.481000	0.04817	TAT		0.358	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		46	76	0	0	0	1	0	46	76					C	79990400	T	C	79990400	3	2	80	1	0	0	0	0	1	0	0	0	11477	1406	49	3	312	3	PAWR	12	79990400	Missense_Mutation	SNP	T	TCGA-DJ-A2PO-01A-21D-A19J-08	56294142	79990400	53861495	11	1472											
SERF2	10169	broad.mit.edu	37	15	44085945	44085945	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085945A>T	ENST00000381359.1	+	5	1083	c.154A>T	c.(154-156)Aac>Tac	p.N52Y	SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409960.2_Missense_Mutation_p.Q96H|SERF2_ENST00000249786.4_Missense_Mutation_p.N52Y|SERF2_ENST00000339624.5_Missense_Mutation_p.Q59H|SERF2_ENST00000402131.1_Missense_Mutation_p.N38Y|SERF2_ENST00000403425.1_Missense_Mutation_p.N38Y|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409614.1_Missense_Mutation_p.N38Y|MIR1282_ENST00000408865.1_RNA	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	52						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAAAAAGGCAAACGAGAAGAA	0.572																																						uc010bdq.3																			0				lung(1)	1						c.(286-288)caA>caT		Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.							215	176	189					15																	44085945		2198	4298	6496	SO:0001583	missense	10169					cytosol|nucleus		g.chr15:44085945A>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.154A>T	15.37:g.44085945A>T	ENSP00000370764:p.Asn52Tyr		Somatic				ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.N52Y|SERF2_uc021skb.1_Missense_Mutation_p.N52Y|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Missense_Mutation_p.Q59H|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.N38Y|MIR1282_uc021ske.1_Non-coding_Transcript	p.Q96H	NM_001199875	NP_001186804	WXS	Illumina GAIIx	Phase_I	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	2	689	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	0					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Missense_Mutation	SNP	ENST00000381359.1	37	c.288A>T	CCDS32218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.81|13.81	2.347824|2.347824	0.41599|0.41599	.|.	.|.	ENSG00000140264|ENSG00000140264	ENST00000381359;ENST00000249786;ENST00000402131;ENST00000403425;ENST00000409614|ENST00000409960;ENST00000339624	T;T;T;T;T|T;T	0.51817|0.55052	0.85;0.85;0.69;0.69;0.69|0.55;0.54	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|T	0.64594|0.64594	0.2612|0.2612	.|.	.|.	.|.	0.26907|0.26907	N|N	0.966983|0.966983	B|D;P	0.28026|0.61080	0.198|0.989;0.704	B|P;B	0.12837|0.56916	0.008|0.809;0.36	T|T	0.61019|0.61019	-0.7147|-0.7147	8|8	0.87932|0.51188	D|T	0|0.08	.|.	12.7757|12.7757	0.57445|0.57445	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	52|59;96	P84101|A6NL45;B9A026	SERF2_HUMAN|.;.	Y|H	52;52;38;38;38|96;59	ENSP00000370764:N52Y;ENSP00000249786:N52Y;ENSP00000386044:N38Y;ENSP00000384300:N38Y;ENSP00000386783:N38Y|ENSP00000387187:Q96H;ENSP00000339647:Q59H	ENSP00000249786:N52Y|ENSP00000339647:Q59H	N|Q	+|+	1|3	0|2	SERF2|SERF2	41873237|41873237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.727000|1.727000	0.38095|0.38095	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.572	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		5	189	0	0	0	1	0	5	189					T	44085945	A	T	44085945	3	4	80	1	0	0	0	0	1	0	0	0	14076	14	1	5	164	5	SERF2	15	44085945	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		44085945	58445447	12	1473	2	2									
SERF2	10169	broad.mit.edu	37	15	44085952	44085952	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085952A>T	ENST00000381359.1	+	5	1090	c.161A>T	c.(160-162)aAg>aTg	p.K54M	SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409960.2_Nonsense_Mutation_p.R99*|SERF2_ENST00000249786.4_Missense_Mutation_p.K54M|SERF2_ENST00000339624.5_Nonsense_Mutation_p.R62*|SERF2_ENST00000402131.1_Missense_Mutation_p.K40M|SERF2_ENST00000403425.1_Missense_Mutation_p.K40M|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409614.1_Missense_Mutation_p.K40M|MIR1282_ENST00000408865.1_RNA	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	54						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCAAACGAGAAGAAGGAGGAA	0.562																																						uc010bdq.3																			0				lung(1)	1						c.(295-297)Aga>Tga		Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.							214	175	188					15																	44085952		2198	4298	6496	SO:0001583	missense	10169					cytosol|nucleus		g.chr15:44085952A>T	AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.161A>T	15.37:g.44085952A>T	ENSP00000370764:p.Lys54Met		Somatic				ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.K54M|SERF2_uc021skb.1_Missense_Mutation_p.K54M|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Nonsense_Mutation_p.R62*|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.K40M|MIR1282_uc021ske.1_Non-coding_Transcript	p.R99*	NM_001199875	NP_001186804	WXS	Illumina GAIIx	Phase_I	P84101	SERF2_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	2	696	+		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	0					A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Nonsense_Mutation	SNP	ENST00000381359.1	37	c.295A>T	CCDS32218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.556558|4.556558	0.86231|0.86231	.|.	.|.	ENSG00000140264|ENSG00000140264	ENST00000381359;ENST00000249786;ENST00000402131;ENST00000403425;ENST00000409614|ENST00000409960;ENST00000339624	T;T;T;T;T|.	0.58652|.	0.64;0.64;0.32;0.32;0.32|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	T|.	0.73156|.	0.3551|.	.|.	.|.	.|.	0.38867|0.38867	D|D	0.956615|0.956615	P|.	0.51240|.	0.943|.	P|.	0.55667|.	0.781|.	T|.	0.77653|.	-0.2507|.	8|.	0.72032|0.66056	D|D	0.01|0.02	.|.	12.7757|12.7757	0.57445|0.57445	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	54|.	P84101|.	SERF2_HUMAN|.	M|X	54;54;40;40;40|99;62	ENSP00000370764:K54M;ENSP00000249786:K54M;ENSP00000386044:K40M;ENSP00000384300:K40M;ENSP00000386783:K40M|.	ENSP00000249786:K54M|ENSP00000339647:R62X	K|R	+|+	2|1	0|2	SERF2|SERF2	41873244|41873244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.957000|3.957000	0.56730|0.56730	2.258000|2.258000	0.74832|0.74832	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.562	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133233.2	NM_005770		6	183	0	0	0	1	0	6	183					T	44085952	A	T	44085952	3	4	80	1	0	0	0	0	1	0	0	0	14076	72	3	5	171	5	SERF2	15	44085952	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08	7	44085952	58445440	13	1474	2	2									
CARHSP1	23589	broad.mit.edu	37	16	8952307	8952307	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr16:8952307G>A	ENST00000396593.2	-	3	540	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567626.1_5'Flank|CARHSP1_ENST00000567554.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000562843.1_Missense_Mutation_p.P61S|CARHSP1_ENST00000311052.5_Missense_Mutation_p.P61S|CARHSP1_ENST00000561530.1_Missense_Mutation_p.P61S	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	61					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						TTGTAGACGGGGCCCTGTGAA	0.607																																						uc002czh.1																			0				endometrium(2)|lung(1)	3						c.(181-183)Ccc>Tcc		Homo sapiens calcium regulated heat stable protein 1, 24kDa (CARHSP1), transcript variant 2, mRNA.							55	61	59					16																	8952307		2197	4300	6497	SO:0001583	missense	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	P granule|cytoplasmic mRNA processing body|cytosol	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8952307G>A	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"calcium regulated heat stable protein 1 (24kD)"			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.181C>T	16.37:g.8952307G>A	ENSP00000379838:p.Pro61Ser		Somatic				CARHSP1_uc002czi.1_Missense_Mutation_p.P61S	p.P61S	NM_001042476	NP_055131	WXS	Illumina GAIIx	Phase_I	Q9Y2V2	CHSP1_HUMAN			2	531	-			61					B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Missense_Mutation	SNP	ENST00000396593.2	37	c.181C>T	CCDS10537.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551441	0.86127	.	.	ENSG00000153048	ENST00000396593;ENST00000311052	.	.	.	5.37	3.32	0.38043	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.84846	2.72	0.80722	D	1	P	0.48407	0.91	P	0.45998	0.5	T	0.74990	-0.3475	9	0.87932	D	0	1.8599	13.1807	0.59653	0.0:0.0:0.7102:0.2898	.	61	Q9Y2V2	CHSP1_HUMAN	S	61	.	ENSP00000311847:P61S	P	-	1	0	CARHSP1	8859808	1.000000	0.71417	0.848000	0.33437	0.927000	0.56198	7.797000	0.85911	0.576000	0.29452	0.561000	0.74099	CCC		0.607	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		6	81	0	0	0	1	0	6	81					A	8952307	G	A	8952307	3	1	80	1	0	0	0	0	1	0	0	0	2653	1232	43	2	270	2	CARHSP1	16	8952307	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		8952307	81402446	14	1475											
SETBP1	26040	broad.mit.edu	37	18	42281493	42281493	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr18:42281493A>T	ENST00000282030.5	+	2	478	c.182A>T	c.(181-183)gAt>gTt	p.D61V	SETBP1_ENST00000426838.4_Missense_Mutation_p.D61V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	61						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGGAGGATGAACTAGGC	0.582									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(181-183)gAt>gTt		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							79	67	71					18																	42281493		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281493A>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.182A>T	18.37:g.42281493A>T	ENSP00000282030:p.Asp61Val		Somatic				SETBP1_uc002lay.3_Missense_Mutation_p.D61V	p.D61V	NM_015559	NP_056374	WXS	Illumina GAIIx	Phase_I	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	1	478	+			61					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.182A>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680110	0.68042	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.71461	-0.57	5.7	5.7	0.88788	.	0.059261	0.64402	D	0.000003	T	0.78723	0.4328	L	0.44542	1.39	0.58432	D	0.999997	D;P	0.76494	0.999;0.936	D;P	0.66351	0.943;0.64	T	0.80917	-0.1168	10	0.87932	D	0	.	15.9644	0.79956	1.0:0.0:0.0:0.0	.	61;61	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	V	61	ENSP00000282030:D61V	ENSP00000282030:D61V	D	+	2	0	SETBP1	40535491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.636000	0.61339	2.170000	0.68504	0.482000	0.46254	GAT		0.582	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		12	114	0	0	0	1	0	12	114					T	42281493	A	T	42281493	3	4	80	1	0	0	0	0	1	0	0	0	14129	333	12	5	184	5	SETBP1	18	42281493	Missense_Mutation	SNP	A	TCGA-DJ-A2PO-01A-21D-A19J-08		42281493	35795755	15	1476											
GFRA4	64096	broad.mit.edu	37	20	3641263	3641264	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr20:3641263_3641264delCG	ENST00000319242.3	-	3	635_636	c.636_637delCG	c.(634-639)cgcgtgfs	p.V213fs	GFRA4_ENST00000290417.2_Frame_Shift_Del_p.V183fs			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	213					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						CAGGGCGCCACGCGCGCGCTCA	0.698																																						uc002wio.3																			0				large_intestine(1)|lung(2)	3						c.(634-639)cgcgtgfs		Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3641263_3641264delCG	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"persephin receptor"					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.636_637delCG	20.37:g.3641269_3641270delCG	ENSP00000313423:p.Val213fs		Somatic				GFRA4_uc002win.3_Frame_Shift_Del_p.R182fs|GFRA4_uc002wip.1_3'UTR	p.R212fs	NM_145762	NP_665705	WXS	Illumina GAIIx	Phase_I	Q9GZZ7	GFRA4_HUMAN			2	636_637	-			212					Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	c.636_637delCG	CCDS13056.1																																																																																				0.698	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762		2	4						2	4	---	---	---	---	-	3641264	CG	-	3641263	7	5	80	1	0	1	0	1	0	0	0	0	6350	536	19	0	274	0	GFRA4	20	3641263	Frame_Shift_Del	DEL	CG	TCGA-DJ-A2PO-01A-21D-A19J-08		3641263	59384257	16	1477											
SH3BGR	6450	broad.mit.edu	37	21	40823936	40823936	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr21:40823936G>A	ENST00000333634.4	+	1	181	c.103G>A	c.(103-105)Gct>Act	p.A35T	SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	35					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CCTGGCACTTGCTTGCCTGTG	0.592																																						uc002yya.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(103-105)Gct>Act		Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.							101	99	100					21																	40823936		2203	4300	6503	SO:0001583	missense	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40823936G>A		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.103G>A	21.37:g.40823936G>A	ENSP00000332513:p.Ala35Thr		Somatic				SH3BGR_uc002yxz.3_Intron	p.A35T	NM_007341	NP_001001713	WXS	Illumina GAIIx	Phase_I	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	0	157	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	35					A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	c.103G>A	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465692	0.43839	.	.	ENSG00000185437	ENST00000333634	T	0.28255	1.62	4.22	2.29	0.28610	.	1.996380	0.02457	N	0.086146	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.22730	-1.0208	10	0.72032	D	0.01	.	7.5132	0.27585	0.0932:0.1658:0.741:0.0	.	35	P55822	SH3BG_HUMAN	T	35	ENSP00000332513:A35T	ENSP00000332513:A35T	A	+	1	0	SH3BGR	39745806	0.000000	0.05858	0.005000	0.12908	0.300000	0.27592	0.483000	0.22292	1.013000	0.39391	0.655000	0.94253	GCT		0.592	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		5	195	0	0	0	1	0	5	195					A	40823936	G	A	40823936	3	1	80	1	0	0	0	0	1	0	0	0	14240	1319	46	2	105	2	SH3BGR	21	40823936	Missense_Mutation	SNP	G	TCGA-DJ-A2PO-01A-21D-A19J-08		40823936	7305959	17	1478											
MYOM3	127294	broad.mit.edu	37	1	24383949	24383949	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:24383949C>T	ENST00000374434.3	-	37	4381	c.4219G>A	c.(4219-4221)Gtc>Atc	p.V1407I	MYOM3_ENST00000330966.7_Missense_Mutation_p.V1410I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.V300I	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1407	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTGACGAAGACGCCGTAGCGG	0.577																																						uc001bin.4																			0		p.G1406G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(4219-4221)Gtc>Atc		Homo sapiens myomesin family, member 3 (MYOM3), mRNA.							90	94	93					1																	24383949		2052	4185	6237	SO:0001583	missense	127294							g.chr1:24383949C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4219G>A	1.37:g.24383949C>T	ENSP00000363557:p.Val1407Ile		Somatic				MYOM3_uc001bil.4_Missense_Mutation_p.V300I|MYOM3_uc001bim.4_Missense_Mutation_p.V1064I	p.V1407I	NM_152372	NP_689585	WXS	Illumina GAIIx	Phase_I	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	36	4382	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1407			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.4219G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	0.342	-0.950161	0.02285	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.41758	0.99;0.99;0.99	5.24	1.87	0.25490	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.270219	0.34268	N	0.004108	T	0.17916	0.0430	N	0.11154	0.105	0.80722	D	1	B;B	0.20164	0.008;0.042	B;B	0.20184	0.01;0.028	T	0.05666	-1.0871	10	0.10902	T	0.67	.	5.5888	0.17289	0.0:0.3488:0.0:0.6512	.	1407;300	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	I	300;1407;1410;301	ENSP00000342689:V300I;ENSP00000363557:V1407I;ENSP00000332670:V1410I	ENSP00000332670:V1410I	V	-	1	0	MYOM3	24256536	0.994000	0.37717	0.408000	0.26446	0.146000	0.21551	2.482000	0.45224	0.565000	0.29255	0.655000	0.94253	GTC		0.577	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		10	48	0	0	0	1	0	10	48					T	24383949	C	T	24383949	3	4	81	1	0	0	0	0	1	0	0	0	10093	536	19	1	98	1	MYOM3	1	24383949	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		24383949	224866672	1	1479											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		72	113	0	0	0	1	0	72	113					C	115256529	T	C	115256529	3	2	81	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08	90872580	115256529	133994092	2	1480											
PGLYRP4	57115	broad.mit.edu	37	1	153315684	153315684	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:153315684G>A	ENST00000359650.5	-	5	418	c.354C>T	c.(352-354)aaC>aaT	p.N118N	PGLYRP4_ENST00000368739.3_Splice_Site_p.N114N|PGLYRP4_ENST00000490266.1_5'Flank	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	118					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCAGGAAGCTATGGAGCA	0.502																																						uc001fbo.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.e5-1		Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.							170	134	146					1																	153315684		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153315684G>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.354-1C>T	1.37:g.153315684G>A			Somatic				PGLYRP4_uc001fbp.3_Splice_Site_p.N114_splice	p.N118_splice	NM_020393	NP_065126	WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	419	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		118					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.354_splice	CCDS30871.1																																																																																				0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Silent	29	54	0	0	0	1	0	29	54					A	153315684	G	A	153315684	5	1	81	1	0	0	0	0	0	0	1	0	11796	985	34	2	787	2	PGLYRP4	1	153315684	Splice_Site	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	38059155	153315684	95934937	3	1481											
LYST	1130	broad.mit.edu	37	1	235920719	235920719	+	Silent	SNP	T	T	C	rs544394700		TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr1:235920719T>C	ENST00000389794.3	-	24	7095	c.6921A>G	c.(6919-6921)ttA>ttG	p.L2307L	LYST_ENST00000389793.2_Silent_p.L2307L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2307					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)			GGAGTTCATATAATCCACAGC	0.373													T|||	1	0.000199681	8e-04	0	5008	,	,		16175	0		0	False		,,,				2504	0					uc001hxj.2																			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.(6919-6921)ttA>ttG		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							126	124	125					1																	235920719		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.chr1:235920719T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6921A>G	1.37:g.235920719T>C			Somatic					p.L2307L	NM_000081	NP_000072	WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	7096	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2307					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.6921A>G	CCDS31062.1																																																																																				0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			30	54	0	0	0	1	0	30	54					C	235920719	T	C	235920719	2	2	81	1	0	0	0	0	0	0	0	1	9128	1403	49	3		3	LYST	1	235920719	Silent	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08	82605035	235920719	13329902	4	1482											
CAPN13	92291	broad.mit.edu	37	2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:30966369C>T	ENST00000295055.8	-	13	1501	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_ENST00000534090.2_Missense_Mutation_p.R442H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	442					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463																																						uc021vfn.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1324-1326)cGc>cAc		Homo sapiens calpain 13 (CAPN13), mRNA.							211	202	205					2																	30966369		1866	4108	5974	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966369C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1325G>A	2.37:g.30966369C>T	ENSP00000295055:p.Arg442His		Somatic				CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR	p.R442H	NM_144575	NP_653176	WXS	Illumina GAIIx	Phase_I	Q6MZZ7	CAN13_HUMAN			11	1357	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		442					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1325G>A	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687947	0.29962	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	5.52	-1.17	0.09648	Peptidase C2, calpain, large subunit, domain III (2);	1.383140	0.04630	N	0.403459	T	0.68495	0.3007	N	0.03608	-0.345	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.58183	-0.7681	10	0.44086	T	0.13	.	1.6142	0.02700	0.1257:0.2197:0.1441:0.5105	.	442	Q6MZZ7	CAN13_HUMAN	H	442	ENSP00000295055:R442H;ENSP00000431298:R442H	ENSP00000295055:R442H	R	-	2	0	CAPN13	30819873	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.189000	0.09629	0.067000	0.16545	-0.459000	0.05422	CGC		0.463	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		70	121	0	0	0	1	0	70	121					T	30966369	C	T	30966369	3	4	81	1	0	0	0	0	1	0	0	0	2626	768	27	1	724	1	CAPN13	2	30966369	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		30966369	212233004	5	1483											
NRXN1	9378	broad.mit.edu	37	2	51254683	51254683	+	Silent	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr2:51254683G>A	ENST00000406316.2	-	2	2205	c.729C>T	c.(727-729)tgC>tgT	p.C243C	NRXN1_ENST00000401669.2_Silent_p.C243C|NRXN1_ENST00000405472.3_Silent_p.C243C|NRXN1_ENST00000404971.1_Silent_p.C243C|NRXN1_ENST00000402717.3_Silent_p.C243C|NRXN1_ENST00000405581.1_Silent_p.C243C|NRXN1_ENST00000406859.3_Silent_p.C243C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	243	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			GCGAGCAGTCGCACACGGCCT	0.751																																						uc021vhg.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.(727-729)tgC>tgT		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							15	19	18					2																	51254683		2120	4211	6331	SO:0001819	synonymous_variant	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.chr2:51254683G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.729C>T	2.37:g.51254683G>A			Somatic				NRXN1_uc021vhh.1_Silent_p.C243C|NRXN1_uc021vhi.1_Silent_p.C243C|NRXN1_uc021vhj.1_Silent_p.C243C|NRXN1_uc021vhk.1_Silent_p.C243C	p.C243C	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		0	1650	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	243			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.729C>T	CCDS54360.1																																																																																				0.751	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	21	0	0	0	1	0	3	21					A	51254683	G	A	51254683	2	1	81	1	0	0	0	0	0	0	0	1	10665	1079	38	1		1	NRXN1	2	51254683	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	20288314	51254683	191944690	6	1484											
PIGZ	80235	broad.mit.edu	37	3	196674504	196674504	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr3:196674504G>A	ENST00000412723.1	-	3	1410	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	422					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGGCACCGAGGGCGTTGAAG	0.652																																						uc003fxh.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(1264-1266)Ctc>Ttc		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.							43	43	43					3																	196674504		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674504G>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1264C>T	3.37:g.196674504G>A	ENSP00000413405:p.Leu422Phe		Somatic					p.L422F	NM_025163	NP_079439	WXS	Illumina GAIIx	Phase_I	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	1411	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		422					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.1264C>T	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242790	0.22796	.	.	ENSG00000119227	ENST00000412723	T	0.63417	-0.04	5.0	3.06	0.35304	.	0.197104	0.25310	N	0.031583	T	0.68723	0.3032	L	0.59436	1.845	0.18873	N	0.999982	D	0.63880	0.993	D	0.63877	0.919	T	0.56553	-0.7960	10	0.42905	T	0.14	-6.9908	7.211	0.25933	0.1592:0.1405:0.7003:0.0	.	422	Q86VD9	PIGZ_HUMAN	F	422	ENSP00000413405:L422F	ENSP00000413405:L422F	L	-	1	0	PIGZ	198158901	0.365000	0.25006	0.029000	0.17559	0.186000	0.23388	1.341000	0.33907	1.219000	0.43474	0.561000	0.74099	CTC		0.652	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		7	29	0	0	0	1	0	7	29					A	196674504	G	A	196674504	3	1	81	1	0	0	0	0	1	0	0	0	11905	1000	35	2	479	2	PIGZ	3	196674504	Missense_Mutation	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08		196674504	1347926	7	1485											
C5orf42	65250	broad.mit.edu	37	5	37169007	37169007	+	Silent	SNP	T	T	C			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:37169007T>C	ENST00000508244.1	-	33	7212	c.7119A>G	c.(7117-7119)ccA>ccG	p.P2373P	C5orf42_ENST00000274258.7_Silent_p.P1253P|C5orf42_ENST00000425232.2_Silent_p.P2373P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2373						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGAGGTTGATGGAAACATAT	0.393																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(7117-7119)ccA>ccG		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							201	200	200					5																	37169007		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37169007T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7119A>G	5.37:g.37169007T>C			Somatic				C5orf42_uc011coy.1_Silent_p.P873P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P1448P|C5orf42_uc003jkr.1_Silent_p.P406P	p.P2373P	NM_023073	NP_075561	WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	7350	-	all_lung(31;0.000616)		2373					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.7119A>G	CCDS34146.2																																																																																				0.393	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		28	123	0	0	0	1	0	28	123					C	37169007	T	C	37169007	2	2	81	1	0	0	0	0	0	0	0	1	2301	1451	51	3		3	C5orf42	5	37169007	Silent	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		37169007	143746253	8	1486											
PCDHGA4	56111	broad.mit.edu	37	5	140736469	140736469	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr5:140736469C>A	ENST00000571252.1	+	1	1702	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	568					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCACCTTCCCTACTGATGG	0.577																																						uc003ljq.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1702-1704)Cct>Act		Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.							188	198	195					5																	140736469		2197	4297	6494	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736469C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1702C>A	5.37:g.140736469C>A	ENSP00000458570:p.Pro568Thr		Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P568T	p.P568T	NM_018917	NP_061740	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1702	+			570					Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1702C>A	CCDS58979.1																																																																																				0.577	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		32	302	0	0	0	1	0	32	302					A	140736469	C	A	140736469	3	1	81	1	0	0	0	0	1	0	0	0	11556	623	22	4	1704	4	PCDHGA4	5	140736469	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08	103567462	140736469	40178791	9	1487											
TULP4	56995	broad.mit.edu	37	6	158910761	158910761	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr6:158910761C>T	ENST00000367097.3	+	9	2985	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L	TULP4_ENST00000367094.2_Missense_Mutation_p.P543L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	543					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAAACTCCCAAGGTAATCT	0.478																																						uc003qrf.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1627-1629)cCa>cTa		Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.							115	104	108					6																	158910761		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158910761C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1628C>T	6.37:g.158910761C>T	ENSP00000356064:p.Pro543Leu		Somatic				TULP4_uc003qrg.3_Missense_Mutation_p.P543L	p.P543L	NM_020245	NP_064630	WXS	Illumina GAIIx	Phase_I	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2985	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	543					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1628C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285665	0.80803	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61859	0.07;0.91	5.57	5.57	0.84162	Tubby, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.40543	1.245	0.80722	D	1	B;B	0.30511	0.0;0.282	B;B	0.27076	0.003;0.076	T	0.43782	-0.9370	10	0.59425	D	0.04	-12.9817	19.5417	0.95277	0.0:1.0:0.0:0.0	.	543;543	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	L	543	ENSP00000356064:P543L;ENSP00000356061:P543L	ENSP00000356061:P543L	P	+	2	0	TULP4	158830749	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.340000	0.79292	2.614000	0.88457	0.655000	0.94253	CCA		0.478	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		8	57	0	0	0	1	0	8	57					T	158910761	C	T	158910761	3	4	81	1	0	0	0	0	1	0	0	0	16773	594	21	2	1662	2	TULP4	6	158910761	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		158910761	12204306	10	1488											
ANKMY2	57037	broad.mit.edu	37	7	16649339	16649339	+	Silent	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:16649339G>A	ENST00000306999.2	-	7	1041	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	266						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCTCTAATGATCTTTTCTT	0.393																																						uc003sti.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(796-798)atC>atT		Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.							106	107	107					7																	16649339		2203	4300	6503	SO:0001819	synonymous_variant	57037					cilium	zinc ion binding	g.chr7:16649339G>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.798C>T	7.37:g.16649339G>A			Somatic				ANKMY2_uc010ktz.3_Non-coding_Transcript	p.I266I	NM_020319	NP_064715	WXS	Illumina GAIIx	Phase_I	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	6	1042	-	Lung NSC(10;0.103)|all_lung(11;0.204)		266					A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	c.798C>T	CCDS5361.1																																																																																				0.393	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		9	66	0	0	0	1	0	9	66					A	16649339	G	A	16649339	2	1	81	1	0	0	0	0	0	0	0	1	635	1280	45	2		2	ANKMY2	7	16649339	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08		16649339	142489324	11	1489											
CCDC132	55610	broad.mit.edu	37	7	92869235	92869235	+	Silent	SNP	G	G	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr7:92869235G>A	ENST00000305866.5	+	2	218	c.90G>A	c.(88-90)cgG>cgA	p.R30R	CCDC132_ENST00000251739.5_Silent_p.R30R|CCDC132_ENST00000535481.1_Silent_p.R30R|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	30						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGTCTCCGGGTCCCTGGAA	0.393																																						uc003umo.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(88-90)cgG>cgA		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							96	103	101					7																	92869235		2203	4300	6503	SO:0001819	synonymous_variant	55610							g.chr7:92869235G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.90G>A	7.37:g.92869235G>A			Somatic				CCDC132_uc003ump.3_5'UTR|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.R30R|CCDC132_uc003umn.3_Silent_p.R30R	p.R30R	NM_017667	NP_060137	WXS	Illumina GAIIx	Phase_I	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		1	218	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		30					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	c.90G>A	CCDS43617.1																																																																																				0.393	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		34	71	0	0	0	1	0	34	71					A	92869235	G	A	92869235	2	1	81	1	0	0	0	0	0	0	0	1	2767	1219	43	2		2	CCDC132	7	92869235	Silent	SNP	G	TCGA-DJ-A2PP-01A-11D-A19J-08	76219896	92869235	66269428	12	1490											
TG	7038	broad.mit.edu	37	8	133935654	133935654	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr8:133935654A>G	ENST00000220616.4	+	22	4640	c.4600A>G	c.(4600-4602)Aag>Gag	p.K1534E	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1534	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		AGCCAGCCAGAAGGACAGGGG	0.572																																						uc003ytw.3																			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.(4600-4602)Aag>Gag		Homo sapiens thyroglobulin (TG), mRNA.							92	85	87					8																	133935654		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133935654A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4600A>G	8.37:g.133935654A>G	ENSP00000220616:p.Lys1534Glu		Somatic				TG_uc010mdw.3_Missense_Mutation_p.K293E|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron	p.K1534E	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	21	4641	+	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)	1534			Thyroglobulin type-1 11.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.4600A>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.297|6.297	0.422924|0.422924	0.11928|0.11928	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000543313;ENST00000220616	.|D	.|0.82344	.|-1.6	4.84|4.84	3.65|3.65	0.41850|0.41850	.|Thyroglobulin type-1 (5);	.|0.791890	.|0.11393	.|N	.|0.568605	T|T	0.74642|0.74642	0.3743|0.3743	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.999995|0.999995	.|B	.|0.17038	.|0.02	.|B	.|0.19148	.|0.024	T|T	0.67503|0.67503	-0.5654|-0.5654	5|10	.|0.72032	.|D	.|0.01	.|.	7.7537|7.7537	0.28911|0.28911	0.8135:0.0:0.0:0.1865|0.8135:0.0:0.0:0.1865	.|.	.|1534	.|P01266	.|THYG_HUMAN	G|E	53|340;1534	.|ENSP00000220616:K1534E	.|ENSP00000220616:K1534E	E|K	+|+	2|1	0|0	TG|TG	134004836|134004836	0.379000|0.379000	0.25123|0.25123	0.797000|0.797000	0.32132|0.32132	0.043000|0.043000	0.13939|0.13939	0.251000|0.251000	0.18257|0.18257	0.683000|0.683000	0.31428|0.31428	-0.509000|-0.509000	0.04479|0.04479	GAA|AAG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		6	55	0	0	0	1	0	6	55					G	133935654	A	G	133935654	3	3	81	1	0	0	0	0	1	0	0	0	15810	247	9	3	4686	3	TG	8	133935654	Missense_Mutation	SNP	A	TCGA-DJ-A2PP-01A-11D-A19J-08		133935654	12428368	13	1491											
ERCC6	2074	broad.mit.edu	37	10	50732508	50732508	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr10:50732508T>C	ENST00000355832.5	-	5	1046	c.968A>G	c.(967-969)aAa>aGa	p.K323R	PGBD3_ENST00000603152.1_Missense_Mutation_p.K323R|PGBD3_ENST00000374127.3_5'Flank|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.K323R|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.K323R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	323					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCTTTTTTGGACAGAAC	0.473								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.4																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(967-969)aAa>aGa	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.							134	131	132					10																	50732508		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	g.chr10:50732508T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.968A>G	10.37:g.50732508T>C	ENSP00000348089:p.Lys323Arg		Somatic				ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_Missense_Mutation_p.K323R|ERCC6_uc001jhu.3_Missense_Mutation_p.K323R	p.K323R	NM_000124	NP_000115	WXS	Illumina GAIIx	Phase_I	Q03468	ERCC6_HUMAN			4	1122	-			323					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.968A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861715	0.51482	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.84070	-1.8;3.19;3.19	6.03	0.698	0.18087	.	.	.	.	.	T	0.75347	0.3837	L	0.60455	1.87	0.09310	N	1	B;B	0.30824	0.296;0.006	B;B	0.19946	0.027;0.003	T	0.58470	-0.7631	9	0.32370	T	0.25	-9.4602	8.7255	0.34467	0.0:0.327:0.0:0.673	.	323;323	E7EV46;Q03468	.;ERCC6_HUMAN	R	323	ENSP00000348089:K323R;ENSP00000423550:K323R;ENSP00000387966:K323R	ENSP00000348089:K323R	K	-	2	0	ERCC6;RP11-123B3.6	50402514	0.005000	0.15991	0.000000	0.03702	0.638000	0.38207	0.663000	0.25053	-0.119000	0.11830	0.533000	0.62120	AAA		0.473	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		47	79	0	0	0	1	0	47	79					C	50732508	T	C	50732508	3	2	81	1	0	0	0	0	1	0	0	0	5217	1841	64	3	3581	3	ERCC6	10	50732508	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		50732508	84802239	14	1492											
POLR3B	55703	broad.mit.edu	37	12	106903265	106903265	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr12:106903265T>A	ENST00000228347.4	+	28	3562	c.3340T>A	c.(3340-3342)Ttc>Atc	p.F1114I	POLR3B_ENST00000539066.1_Missense_Mutation_p.F1056I|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1114					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAAGCTGCTCTTCCAGGAACT	0.443																																						uc001tlp.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3340-3342)Ttc>Atc		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.							164	137	146					12																	106903265		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106903265T>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3340T>A	12.37:g.106903265T>A	ENSP00000228347:p.Phe1114Ile		Somatic				LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.F1056I	p.F1114I	NM_018082	NP_001154180	WXS	Illumina GAIIx	Phase_I	Q9NW08	RPC2_HUMAN			27	3562	+			1114					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.3340T>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.875788	0.72180	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.76186	-1.0;-1.0	5.57	5.57	0.84162	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	L	0.33624	1.015	0.80722	D	1	B	0.25850	0.136	B	0.37888	0.26	T	0.69390	-0.5158	10	0.45353	T	0.12	-20.9796	15.742	0.77905	0.0:0.0:0.0:1.0	.	1114	Q9NW08	RPC2_HUMAN	I	1114;1056	ENSP00000228347:F1114I;ENSP00000445721:F1056I	ENSP00000228347:F1114I	F	+	1	0	POLR3B	105427395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.126000	0.65437	0.533000	0.62120	TTC		0.443	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		36	59	0	0	0	1	0	36	59					A	106903265	T	A	106903265	3	1	81	1	0	0	0	0	1	0	0	0	12229	1609	56	5	3450	5	POLR3B	12	106903265	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		106903265	26948630	15	1493											
SLC12A4	6560	broad.mit.edu	37	16	67980860	67980860	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr16:67980860C>T	ENST00000316341.3	-	17	2361	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E735K|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E743K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E693K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E710K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E741K|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E741K|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	741					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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGAGCCTCGCCATAGCTC	0.637																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2227-2229)Gag>Aag		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						46	47	47					16																	67980860		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980860C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2221G>A	16.37:g.67980860C>T	ENSP00000318557:p.Glu741Lys		Somatic				LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E735K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E710K|SLC12A4_uc002euz.2_Missense_Mutation_p.E741K|SLC12A4_uc010vki.1_Missense_Mutation_p.E741K|SLC12A4_uc002eva.2_Missense_Mutation_p.E741K|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript	p.E743K	NM_001145962	NP_001139434	WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	15	2267	-		Ovarian(137;0.192)	741					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2227G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214590	0.95104	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	L	0.49640	1.575	0.80722	D	1	B;B;D;B;B;B	0.69078	0.157;0.085;0.997;0.067;0.067;0.181	B;B;P;B;B;B	0.59056	0.056;0.014;0.851;0.031;0.009;0.014	D	0.92530	0.6032	10	0.33940	T	0.23	.	19.5025	0.95103	0.0:1.0:0.0:0.0	.	743;741;710;735;741;741	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	K	743;710;735;741;741	ENSP00000395983:E743K;ENSP00000438334:E710K;ENSP00000445962:E735K;ENSP00000343374:E741K;ENSP00000318557:E741K	ENSP00000318557:E741K	E	-	1	0	SLC12A4	66538361	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.977000	0.70492	2.605000	0.88082	0.655000	0.94253	GAG		0.637	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		26	51	0	0	0	1	0	26	51					T	67980860	C	T	67980860	3	4	81	1	0	0	0	0	1	0	0	0	14385	893	31	1	1068	1	SLC12A4	16	67980860	Missense_Mutation	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		67980860	22373893	16	1494											
C17orf66	256957	broad.mit.edu	37	17	34185530	34185530	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr17:34185530C>T	ENST00000311880.2	-	10	1088		c.e10-1		C17orf66_ENST00000592980.1_Splice_Site	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN							hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCTAAGTGCCTATGAGGGGG	0.562																																						uc002hke.1																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.e10-1		Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.							70	48	55					17																	34185530		2203	4300	6503	SO:0001630	splice_region_variant	256957						binding	g.chr17:34185530C>T																												ENST00000311880.2:c.940-1G>A	17.37:g.34185530C>T			Somatic				C17orf66_uc010wck.1_Splice_Site|C17orf66_uc010wcl.1_Splice_Site_p.A274_splice|C17orf66_uc010wcm.1_Splice_Site_p.A280_splice	p.A314_splice	NM_152781	NP_689994	WXS	Illumina GAIIx	Phase_I	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	10	1089	-		Ovarian(249;0.17)	314					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Splice_Site	SNP	ENST00000311880.2	37	c.940_splice	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.843139	0.32606	.	.	ENSG00000172653	ENST00000311880	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8297	0.52288	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C17orf66	31209643	1.000000	0.71417	0.925000	0.36789	0.370000	0.29829	3.197000	0.51028	2.235000	0.73313	0.305000	0.20034	.		0.562	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1		Intron	11	21	0	0	0	1	0	11	21					T	34185530	C	T	34185530	5	4	81	1	0	0	0	0	0	0	1	0	1874	695	24	2	797	2	C17orf66	17	34185530	Splice_Site	SNP	C	TCGA-DJ-A2PP-01A-11D-A19J-08		34185530	47009680	17	1495											
PTPRS	5802	broad.mit.edu	37	19	5244253	5244253	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PP-01A-11D-A19J-08	TCGA-DJ-A2PP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86d5c0fc-2730-4d3d-8db0-d9a6299ec5b4	b9468d7e-7742-42c4-8295-e524ea19c877	g.chr19:5244253T>C	ENST00000587303.1	-	10	1328	c.1229A>G	c.(1228-1230)cAg>cGg	p.Q410R	PTPRS_ENST00000372412.4_Missense_Mutation_p.Q411R|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q406R|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q397R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q397R|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q410R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	410	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGGGGCCCCTGGCCGATGGA	0.672																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1228-1230)cAg>cGg		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							40	39	39					19																	5244253		2202	4300	6502	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244253T>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1229A>G	19.37:g.5244253T>C	ENSP00000467537:p.Gln410Arg		Somatic				PTPRS_uc002mbu.1_Missense_Mutation_p.Q397R|PTPRS_uc010xin.2_Missense_Mutation_p.Q397R|PTPRS_uc002mbw.3_Missense_Mutation_p.Q397R|PTPRS_uc002mbx.3_Missense_Mutation_p.Q401R|PTPRS_uc002mby.3_Missense_Mutation_p.Q397R	p.Q410R	NM_002850	NP_002841	WXS	Illumina GAIIx	Phase_I	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	10	1463	-			410			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1229A>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	2.336	-0.352355	0.05173	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.93	3.93	0.45458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.088729	0.44688	U	0.000423	T	0.35128	0.0921	N	0.04162	-0.26	0.20975	N	0.999815	B;B;P;B;B;P	0.48407	0.001;0.0;0.713;0.008;0.41;0.91	B;B;B;B;B;P	0.51657	0.011;0.003;0.444;0.007;0.401;0.676	T	0.32903	-0.9889	10	0.02654	T	1	.	12.9488	0.58388	0.0:0.0:0.0:1.0	.	410;397;401;397;410;423	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	423;411;410;410;410;406;397;410;401;397	ENSP00000361489:Q411R;ENSP00000349932:Q410R;ENSP00000262963:Q406R;ENSP00000269907:Q397R;ENSP00000327313:Q397R	ENSP00000262963:Q406R	Q	-	2	0	PTPRS	5195253	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.024000	0.70857	1.669000	0.50854	0.379000	0.24179	CAG		0.672	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			25	37	0	0	0	1	0	25	37					C	5244253	T	C	5244253	3	2	81	1	0	0	0	0	1	0	0	0	12811	1580	55	3	4729	3	PTPRS	19	5244253	Missense_Mutation	SNP	T	TCGA-DJ-A2PP-01A-11D-A19J-08		5244253	53884730	18	1496											
SNX17	9784	broad.mit.edu	37	2	27599354	27599354	+	Silent	SNP	T	T	C			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr2:27599354T>C	ENST00000233575.2	+	14	1488	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	SNX17_ENST00000537606.1_Silent_p.P397P|SNX17_ENST00000542478.1_Silent_p.P208P|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000543024.1_Silent_p.P208P	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	422	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGTCACCTGATGCCACCC	0.552																																						uc002rkg.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1264-1266)ccT>ccC		Homo sapiens sorting nexin 17 (SNX17), mRNA.							162	151	155					2																	27599354		2203	4300	6503	SO:0001819	synonymous_variant	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599354T>C	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1266T>C	2.37:g.27599354T>C			Somatic				SNX17_uc010ylj.1_Silent_p.P402P|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Silent_p.P208P|SNX17_uc010yll.1_Silent_p.P208P|SNX17_uc010ylm.1_Silent_p.P208P|SNX17_uc010yln.1_Silent_p.P410P|SNX17_uc010ylo.1_Silent_p.P340P|SNX17_uc010ylp.1_Silent_p.P397P|SNX17_uc010ylk.1_Silent_p.P208P|SNX17_uc010eza.1_Silent_p.P208P|SNX17_uc010ylq.1_Silent_p.P208P	p.P422P	NM_014748	NP_055563	WXS	Illumina GAIIx	Phase_I	Q15036	SNX17_HUMAN			13	1488	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		422					B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	c.1266T>C	CCDS1750.1																																																																																				0.552	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		3	100	0	0	0	1	0	3	100					C	27599354	T	C	27599354	2	2	82	1	0	0	0	0	0	0	0	1	14888	1567	55	3		3	SNX17	2	27599354	Silent	SNP	T	TCGA-DJ-A2PQ-01A-11D-A18F-08		27599354	215600019	1	1497											
ZNF80	7634	broad.mit.edu	37	3	113955140	113955140	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr3:113955140G>T	ENST00000482457.2	-	1	1285	c.782C>A	c.(781-783)gCc>gAc	p.A261D	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	261					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)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCTGTTGGGCAAAAGCAGA	0.403																																					GBM(23;986 1114 21716)	uc010hqo.3																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(781-783)gCc>gAc		Homo sapiens zinc finger protein 80 (ZNF80), mRNA.							81	84	83					3																	113955140		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955140G>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.782C>A	3.37:g.113955140G>T	ENSP00000417192:p.Ala261Asp		Somatic				ZNF80_uc003ebf.3_Non-coding_Transcript	p.A261D	NM_007136	NP_009067	WXS	Illumina GAIIx	Phase_I	P51504	ZNF80_HUMAN			0	1286	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	261					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.782C>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023778	0.19433	.	.	ENSG00000174255	ENST00000482457	T	0.06142	3.34	2.94	-2.43	0.06522	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	L	0.43701	1.375	0.09310	N	1	B	0.27732	0.187	B	0.20184	0.028	T	0.36212	-0.9757	9	0.66056	D	0.02	.	4.5062	0.11889	0.2661:0.3733:0.3606:0.0	.	261	P51504	ZNF80_HUMAN	D	261	ENSP00000417192:A261D	ENSP00000309812:A261D	A	-	2	0	ZNF80	115437830	0.000000	0.05858	0.004000	0.12327	0.157000	0.22087	-1.107000	0.03316	-0.423000	0.07394	-0.459000	0.05422	GCC		0.403	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		5	92	0	0	0	1	0	5	92					T	113955140	G	T	113955140	3	4	82	1	0	0	0	0	1	0	0	0	18165	1203	42	4	43	4	ZNF80	3	113955140	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		113955140	84067290	2	1498											
MATR3	9782	broad.mit.edu	37	5	138643991	138643991	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr5:138643991G>T	ENST00000394805.3	+	2	1222	c.887G>T	c.(886-888)tGt>tTt	p.C296F	MATR3_ENST00000361059.2_Missense_Mutation_p.C296F|MATR3_ENST00000502929.1_Missense_Mutation_p.C296F|MATR3_ENST00000394800.2_Missense_Mutation_p.C296F|MATR3_ENST00000510056.1_Missense_Mutation_p.C296F|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.C296F|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	296					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCTCTATATGTGATTTGCCA	0.378																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(886-888)tGt>tTt		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							119	120	120					5																	138643991		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding	g.chr5:138643991G>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.887G>T	5.37:g.138643991G>T	ENSP00000378284:p.Cys296Phe		Somatic				MATR3_uc003lds.3_Missense_Mutation_p.C296F|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.C296F|MATR3_uc010jfb.3_Missense_Mutation_p.C296F|MATR3_uc003ldx.3_Missense_Mutation_p.C296F|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.C296F|MATR3_uc011czb.2_Intron	p.C296F	NM_018834	NP_954659	WXS	Illumina GAIIx	Phase_I	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	1290	+			296					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.887G>T	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.998560|2.998560	0.54147|0.54147	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056|ENST00000515833	D;D;D;D;D;D;D|.	0.98947|.	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60327|0.60327	0.2260|0.2260	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;P;D|.	0.65815|.	0.995;0.86;0.995|.	D;P;D|.	0.72982|.	0.979;0.774;0.979|.	T|T	0.53669|0.53669	-0.8406|-0.8406	10|5	0.87932|.	D|.	0|.	-10.153|-10.153	19.5239|19.5239	0.95196|0.95196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	296;296;296|.	D6REM6;A8MXP9;P43243|.	.;.;MATR3_HUMAN|.	F|L	296|70	ENSP00000423533:C296F;ENSP00000354346:C296F;ENSP00000422319:C296F;ENSP00000378279:C296F;ENSP00000378284:C296F;ENSP00000423290:C296F;ENSP00000426743:C296F|.	ENSP00000354346:C296F|.	C|V	+|+	2|1	0|0	MATR3|MATR3	138671890|138671890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.602000|8.602000	0.90868|0.90868	2.689000|2.689000	0.91719|0.91719	0.561000|0.561000	0.74099|0.74099	TGT|GTG		0.378	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		4	106	0	0	0	1	0	4	106					T	138643991	G	T	138643991	3	4	82	1	0	0	0	0	1	0	0	0	9337	1377	48	4	889	4	MATR3	5	138643991	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		138643991	42271269	3	1499											
KIAA1549	57670	broad.mit.edu	37	7	138579148	138579148	+	Silent	SNP	G	G	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr7:138579148G>A	ENST00000422774.1	-	10	4020	c.3972C>T	c.(3970-3972)tgC>tgT	p.C1324C	KIAA1549_ENST00000440172.1_Silent_p.C1324C|KIAA1549_ENST00000242365.4_Silent_p.C1274C			Q9HCM3	K1549_HUMAN	KIAA1549	1324						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTCTGTGCGGCATAGTTTCC	0.527			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.2				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3970-3972)tgC>tgT		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							167	161	163					7																	138579148		2139	4246	6385	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138579148G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3972C>T	7.37:g.138579148G>A			Somatic				KIAA1549_uc011kqi.2_Silent_p.C108C|KIAA1549_uc011kqk.2_Silent_p.C108C|KIAA1549_uc011kqj.2_Silent_p.C1324C	p.C1324C	NM_001164665	NP_001158137	WXS	Illumina GAIIx	Phase_I	Q9HCM3	K1549_HUMAN			9	4021	-			1324					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.3972C>T	CCDS56513.1																																																																																				0.527	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	117	0	0	0	1	0	4	117					A	138579148	G	A	138579148	2	1	82	1	0	0	0	0	0	0	0	1	8244	1195	42	2		2	KIAA1549	7	138579148	Silent	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		138579148	20559515	4	1500											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	20	0	0	0	1	0	19	20					T	140453136	A	T	140453136	3	4	82	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PQ-01A-11D-A18F-08	1873988	140453136	18685527	5	1501											
RDH10	157506	broad.mit.edu	37	8	74231385	74231385	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr8:74231385A>G	ENST00000240285.5	+	3	1258	c.580A>G	c.(580-582)Aca>Gca	p.T194A	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.T29A	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	194					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCATATTGTGACAGTTGCAAG	0.368																																						uc003xzi.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(580-582)Aca>Gca		Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.							255	230	238					8																	74231385		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity	g.chr8:74231385A>G	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.580A>G	8.37:g.74231385A>G	ENSP00000240285:p.Thr194Ala		Somatic				RDH10_uc003xzj.3_Missense_Mutation_p.T29A|AK128216_uc003xzk.1_Intron	p.T194A	NM_172037	NP_742034	WXS	Illumina GAIIx	Phase_I	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		2	1268	+	Breast(64;0.0954)		194						Missense_Mutation	SNP	ENST00000240285.5	37	c.580A>G	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883320	0.72410	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;T	0.89485	-2.52;-2.52;0.71	5.42	5.42	0.78866	NAD(P)-binding domain (1);	0.048467	0.85682	D	0.000000	D	0.85191	0.5640	L	0.41236	1.265	0.58432	D	0.999998	P	0.41784	0.762	B	0.43990	0.438	T	0.82886	-0.0235	10	0.27785	T	0.31	.	10.8072	0.46524	0.8589:0.0:0.0:0.141	.	194	Q8IZV5	RDH10_HUMAN	A	194;29;29	ENSP00000240285:T194A;ENSP00000429727:T29A;ENSP00000428132:T29A	ENSP00000240285:T194A	T	+	1	0	RDH10	74393939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.973000	0.76116	2.275000	0.75901	0.528000	0.53228	ACA		0.368	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			3	109	0	0	0	1	0	3	109					G	74231385	A	G	74231385	3	3	82	1	0	0	0	0	1	0	0	0	13189	275	10	3	590	3	RDH10	8	74231385	Missense_Mutation	SNP	A	TCGA-DJ-A2PQ-01A-11D-A18F-08		74231385	72132637	6	1502											
INHBE	83729	broad.mit.edu	37	12	57850257	57850257	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr12:57850257G>A	ENST00000266646.2	+	2	895	c.679G>A	c.(679-681)Gag>Aag	p.E227K	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	227					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCGAGCCAATGAGCCTGGAGC	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	uc001snw.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(679-681)Gag>Aag		Homo sapiens inhibin, beta E (INHBE), mRNA.							68	81	77					12																	57850257		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850257G>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.679G>A	12.37:g.57850257G>A	ENSP00000266646:p.Glu227Lys		Somatic	OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026		p.E227K	NM_031479	NP_113667	WXS	Illumina GAIIx	Phase_I	P58166	INHBE_HUMAN			1	903	+			227						Missense_Mutation	SNP	ENST00000266646.2	37	c.679G>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068344	0.36470	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.81739	-1.53;-1.27	4.79	3.89	0.44902	.	0.627936	0.16611	N	0.206900	T	0.76478	0.3993	L	0.58428	1.81	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.63065	-0.6720	10	0.25751	T	0.34	-8.989	13.6832	0.62499	0.0:0.0:0.844:0.156	.	227	P58166	INHBE_HUMAN	K	172;227	ENSP00000450212:E172K;ENSP00000266646:E227K	ENSP00000266646:E227K	E	+	1	0	INHBE	56136524	0.392000	0.25229	0.004000	0.12327	0.520000	0.34377	3.371000	0.52379	1.365000	0.46057	0.655000	0.94253	GAG		0.602	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		5	124	0	0	0	1	0	5	124					A	57850257	G	A	57850257	3	1	82	1	0	0	0	0	1	0	0	0	7744	1291	45	2	685	2	INHBE	12	57850257	Missense_Mutation	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		57850257	76001638	7	1503											
FBF1	85302	broad.mit.edu	37	17	73908312	73908312	+	Silent	SNP	G	G	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr17:73908312G>A	ENST00000586717.1	-	28	3552	c.3279C>T	c.(3277-3279)ctC>ctT	p.L1093L	MRPL38_ENST00000409963.3_5'Flank|FBF1_ENST00000319129.5_Silent_p.L1093L|RP11-552F3.12_ENST00000587556.1_Silent_p.L35L|FBF1_ENST00000389570.4_Silent_p.L1094L			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	1093					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCCTGGCATGGAGGTGCAAGG	0.632																																						uc002jqc.3																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(3277-3279)ctC>ctT		Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.							20	23	22					17																	73908312		2061	4195	6256	SO:0001819	synonymous_variant	85302							g.chr17:73908312G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.3279C>T	17.37:g.73908312G>A			Somatic				FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.L1084L|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.L403L	p.L1093L	NM_001080542	NP_001074011	WXS	Illumina GAIIx	Phase_I	A6NLR5	A6NLR5_HUMAN			27	3553	-			1093					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37	c.3279C>T																																																																																					0.632	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		7	18	0	0	0	1	0	7	18					A	73908312	G	A	73908312	2	1	82	1	0	0	0	0	0	0	0	1	5695	1161	41	2		2	FBF1	17	73908312	Silent	SNP	G	TCGA-DJ-A2PQ-01A-11D-A18F-08		73908312	7286898	8	1504											
OR7C2	26658	broad.mit.edu	37	19	15052786	15052786	+	Silent	SNP	C	C	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:15052786C>A	ENST00000248072.3	+	1	486	c.486C>A	c.(484-486)acC>acA	p.T162T		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AGACCTTGACCATTTTGAGGC	0.507																																						uc010xoc.2																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(484-486)acC>acA		Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.							222	218	220					19																	15052786		2203	4300	6503	SO:0001819	synonymous_variant	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052786C>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.486C>A	19.37:g.15052786C>A			Somatic					p.T162T	NM_012377	NP_036509	WXS	Illumina GAIIx	Phase_I	O60412	OR7C2_HUMAN			0	486	+	Ovarian(108;0.203)		162					O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	c.486C>A	CCDS12320.1																																																																																				0.507	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			85	130	0	0	0	1	0	85	130					A	15052786	C	A	15052786	2	1	82	1	0	0	0	0	0	0	0	1	11218	581	21	4		4	OR7C2	19	15052786	Silent	SNP	C	TCGA-DJ-A2PQ-01A-11D-A18F-08		15052786	44076197	9	1505											
TRAPPC6A	79090	broad.mit.edu	37	19	45668203	45668203	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:45668203T>C	ENST00000585934.1	-	3	196	c.178A>G	c.(178-180)Agg>Ggg	p.R60G	TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.Q37R|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.Q51R|TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.R74G	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	60					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		AGCTCCTCCCTGAAGGCCAGC	0.637																																						uc002pav.3																			0		p.R74M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(220-222)Agg>Ggg		Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.							78	78	78					19																	45668203		2203	4300	6503	SO:0001583	missense	79090				vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:45668203T>C	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"Trafficking protein particle complex"	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.178A>G	19.37:g.45668203T>C	ENSP00000468612:p.Arg60Gly		Somatic				TRAPPC6A_uc002paw.3_Missense_Mutation_p.R60G	p.R74G	NM_024108	NP_077013	WXS	Illumina GAIIx	Phase_I	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	2	229	-		all_neural(266;0.224)|Ovarian(192;0.231)	60					K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.220A>G	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	t	18.99	3.739103	0.69304	.	.	ENSG00000007255	ENST00000006275	T	0.42900	0.96	4.51	3.41	0.39046	NO signalling/Golgi transport  ligand-binding domain (1);	0.062767	0.64402	D	0.000011	T	0.33411	0.0862	L	0.41632	1.29	0.22266	N	0.999246	P;P	0.45569	0.752;0.861	P;B	0.44647	0.456;0.417	T	0.09662	-1.0664	10	0.27785	T	0.31	-16.4824	7.4296	0.27120	0.0:0.0:0.2217:0.7783	.	60;74	O75865;O75865-2	TPC6A_HUMAN;.	G	74	ENSP00000006275:R74G	ENSP00000006275:R74G	R	-	1	2	TRAPPC6A	50360043	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.013000	0.40942	1.671000	0.50874	0.460000	0.39030	AGG		0.637	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		3	80	0	0	0	1	0	3	80					C	45668203	T	C	45668203	3	2	82	1	0	0	0	0	1	0	0	0	16460	1579	55	3	317	3	TRAPPC6A	19	45668203	Missense_Mutation	SNP	T	TCGA-DJ-A2PQ-01A-11D-A18F-08	30615417	45668203	13460780	10	1506											
OSBPL9	114883	broad.mit.edu	37	1	52251509	52251509	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr1:52251509C>G	ENST00000428468.1	+	21	1861	c.1859C>G	c.(1858-1860)tCa>tGa	p.S620*	OSBPL9_ENST00000361556.5_Nonsense_Mutation_p.S510*|OSBPL9_ENST00000486942.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000462759.1_Nonsense_Mutation_p.S442*|OSBPL9_ENST00000337809.4_Nonsense_Mutation_p.S625*|OSBPL9_ENST00000371710.3_Nonsense_Mutation_p.S638*|OSBPL9_ENST00000447887.1_Nonsense_Mutation_p.S630*|OSBPL9_ENST00000453295.1_Nonsense_Mutation_p.S603*|OSBPL9_ENST00000531828.1_Nonsense_Mutation_p.S455*|OSBPL9_ENST00000530544.1_Nonsense_Mutation_p.S539*|OSBPL9_ENST00000371714.1_Nonsense_Mutation_p.S607*|OSBPL9_ENST00000435686.2_Nonsense_Mutation_p.S455*			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	620					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCTTTTTGCTCAATTGAAGGG	0.378																																						uc001cst.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1912-1914)tCa>tGa		Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.							133	123	126					1																	52251509		2203	4300	6503	SO:0001587	stop_gained	114883				lipid transport		lipid binding	g.chr1:52251509C>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1859C>G	1.37:g.52251509C>G	ENSP00000407168:p.Ser620*		Somatic				OSBPL9_uc001css.3_Nonsense_Mutation_p.S625*|OSBPL9_uc009vza.3_Nonsense_Mutation_p.S603*|OSBPL9_uc001csu.3_Nonsense_Mutation_p.S630*|OSBPL9_uc001csv.3_Nonsense_Mutation_p.S455*|OSBPL9_uc001csw.3_Nonsense_Mutation_p.S607*|OSBPL9_uc001csy.3_Nonsense_Mutation_p.S442*|OSBPL9_uc001csz.3_Nonsense_Mutation_p.S442*|OSBPL9_uc001cta.3_Nonsense_Mutation_p.S510*|OSBPL9_uc001ctb.3_Nonsense_Mutation_p.S405*	p.S638*	NM_024586	NP_078862	WXS	Illumina GAIIx	Phase_I	Q96SU4	OSBL9_HUMAN			20	2096	+			620					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Nonsense_Mutation	SNP	ENST00000428468.1	37	c.1913C>G	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	37	6.563884	0.97667	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2621	19.6361	0.95733	0.0:1.0:0.0:0.0	.	.	.	.	X	607;638;625;630;455;620;603;539;455;510;442;442	.	ENSP00000337265:S625X	S	+	2	0	OSBPL9	52024097	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.607000	0.82883	2.878000	0.98634	0.650000	0.86243	TCA		0.378	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			4	62	0	0	0	1	0	4	62					G	52251509	C	G	52251509	4	3	83	1	0	0	0	0	0	1	0	0	11284	838	29	4	2045	4	OSBPL9	1	52251509	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		52251509	196999112	1	1507											
CRELD1	78987	broad.mit.edu	37	3	9976166	9976166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr3:9976166G>A	ENST00000383811.3	+	1	643	c.44G>A	c.(43-45)tGg>tAg	p.W15*	RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_Nonsense_Mutation_p.W15*|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.W15*|CRELD1_ENST00000397170.3_Nonsense_Mutation_p.W15*	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	15	Pro-rich.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCTATGCTCTGGGGCCTCAGC	0.637																																						uc003buf.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(43-45)tGg>tAg		Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.							65	61	62					3																	9976166		2203	4300	6503	SO:0001587	stop_gained	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9976166G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.44G>A	3.37:g.9976166G>A	ENSP00000373322:p.Trp15*		Somatic				CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Nonsense_Mutation_p.W15*|CRELD1_uc003bug.3_Nonsense_Mutation_p.W15*	p.W15*	NM_001031717	NP_001026887	WXS	Illumina GAIIx	Phase_I	Q96HD1	CREL1_HUMAN			1	143	+			15			Pro-rich.		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Nonsense_Mutation	SNP	ENST00000383811.3	37	c.44G>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071766	0.93950	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	.	.	.	4.41	4.41	0.53225	.	0.477724	0.20414	N	0.092808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1741	0.42929	0.0:0.0:0.8008:0.1992	.	.	.	.	X	15	.	ENSP00000321856:W15X	W	+	2	0	CRELD1	9951166	0.801000	0.28930	0.680000	0.29994	0.692000	0.40212	2.326000	0.43849	2.164000	0.68074	0.561000	0.74099	TGG		0.637	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		5	96	0	0	0	1	0	5	96					A	9976166	G	A	9976166	4	1	83	1	0	0	0	0	0	1	0	0	3866	1357	47	2	46	2	CRELD1	3	9976166	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		9976166	188046264	2	1508											
SLC39A7	7922	broad.mit.edu	37	6	33171577	33171577	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr6:33171577C>T	ENST00000374677.3	+	7	1770	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.A466V|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	466				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	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)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGCTGATTGCCCACCTTGAG	0.597																																						uc003odf.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1396-1398)gCc>gTc		Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.							58	61	60					6																	33171577		2001	4159	6160	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33171577C>T	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1397C>T	6.37:g.33171577C>T	ENSP00000363809:p.Ala466Val		Somatic				RXRB_uc011dqr.2_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.A466V|SLC39A7_uc011dqv.2_Missense_Mutation_p.A341V|HSD17B8_uc003odi.1_5'Flank	p.A466V	NM_001077516	NP_008910	WXS	Illumina GAIIx	Phase_I	Q92504	S39A7_HUMAN			7	1514	+			466	CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).				B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.1397C>T	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024657	0.75390	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.55234	0.53;0.53	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.994;0.998	T	0.80228	-0.1469	10	0.72032	D	0.01	-10.7891	15.3789	0.74637	0.0:1.0:0.0:0.0	.	447;466	B4DVK8;Q92504	.;S39A7_HUMAN	V	466;447;371;466	ENSP00000363807:A466V;ENSP00000363809:A466V	ENSP00000363807:A466V	A	+	2	0	SLC39A7	33279555	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.918000	0.69996	2.494000	0.84150	0.549000	0.68633	GCC		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		23	54	0	0	0	1	0	23	54					T	33171577	C	T	33171577	3	4	83	1	0	0	0	0	1	0	0	0	14623	739	26	2	1423	2	SLC39A7	6	33171577	Missense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		33171577	137943490	3	1509											
AZGP1	563	broad.mit.edu	37	7	99569418	99569418	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr7:99569418G>C	ENST00000292401.4	-	2	424	c.288C>G	c.(286-288)atC>atG	p.I96M	AZGP1_ENST00000411734.1_Missense_Mutation_p.I93M	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	96				Missing (in Ref. 9; AA sequence). {ECO:0000305}.	antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTCCATAAAGATGTCCTCCC	0.517																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(286-288)atC>atG		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.							170	142	152					7																	99569418		2203	4300	6503	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569418G>C	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.288C>G	7.37:g.99569418G>C	ENSP00000292401:p.Ile96Met		Somatic					p.I96M	NM_001185	NP_001176	WXS	Illumina GAIIx	Phase_I	P25311	ZA2G_HUMAN			1	380	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		96	Missing (in Ref. 9; AA sequence).				D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.288C>G	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107698	0.56291	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	T;T	0.00784	5.7;5.7	1.51	1.51	0.23008	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.280826	0.18940	U	0.126948	T	0.02455	0.0075	M	0.62723	1.935	0.31687	N	0.642432	D	0.69078	0.997	D	0.72625	0.978	T	0.22103	-1.0226	10	0.72032	D	0.01	.	6.4356	0.21821	0.0:0.0:1.0:0.0	.	96	P25311	ZA2G_HUMAN	M	96;93	ENSP00000292401:I96M;ENSP00000396093:I93M	ENSP00000292401:I96M	I	-	3	3	AZGP1	99407354	0.918000	0.31147	0.998000	0.56505	0.500000	0.33767	0.343000	0.19944	1.130000	0.42092	0.313000	0.20887	ATC		0.517	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		6	118	0	0	0	1	0	6	118					C	99569418	G	C	99569418	3	2	83	1	0	0	0	0	1	0	0	0	1239	932	33	4	620	4	AZGP1	7	99569418	Missense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		99569418	59569245	4	1510											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	19	0	0	0	1	0	20	19					T	140453136	A	T	140453136	3	4	83	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PR-01A-11D-A19J-08	40883718	140453136	18685527	5	1511											
SUOX	6821	broad.mit.edu	37	12	56396496	56396496	+	Missense_Mutation	SNP	C	C	T	rs541589815		TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr12:56396496C>T	ENST00000394109.3	+	2	944	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SUOX_ENST00000394115.2_Missense_Mutation_p.R74W|SUOX_ENST00000551841.2_Missense_Mutation_p.R74W|SUOX_ENST00000356124.4_Missense_Mutation_p.R74W|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.R74W|SUOX_ENST00000266971.3_Missense_Mutation_p.R74W			P51687	SUOX_HUMAN	sulfite oxidase	74					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCAGGACCATCGGTGTAGGGT	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		20658	0		0	False		,,,				2504	0					uc001six.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(220-222)Cgg>Tgg		Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							104	87	93					12																	56396496		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56396496C>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.220C>T	12.37:g.56396496C>T	ENSP00000377668:p.Arg74Trp		Somatic				SUOX_uc009zoh.3_Missense_Mutation_p.R74W|SUOX_uc001siy.3_Missense_Mutation_p.R74W|SUOX_uc001siz.3_Missense_Mutation_p.R74W|SUOX_uc001sja.3_Missense_Mutation_p.R74W	p.R74W	NM_000456	NP_001027559	WXS	Illumina GAIIx	Phase_I	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		4	546	+			74						Missense_Mutation	SNP	ENST00000394109.3	37	c.220C>T	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840100	0.51057	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000551841;ENST00000394109	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	4.5	2.53	0.30540	.	0.403745	0.24657	N	0.036668	D	0.85031	0.5604	L	0.48642	1.525	0.21984	N	0.999433	P	0.46327	0.876	B	0.36766	0.232	T	0.79584	-0.1743	10	0.87932	D	0	0.4961	5.0165	0.14339	0.2067:0.6861:0.0:0.1072	.	74	P51687	SUOX_HUMAN	W	74	ENSP00000348440:R74W;ENSP00000266971:R74W;ENSP00000377674:R74W;ENSP00000450245:R74W;ENSP00000377668:R74W	ENSP00000266971:R74W	R	+	1	2	SUOX	54682763	0.001000	0.12720	0.842000	0.33263	0.965000	0.64279	0.520000	0.22878	1.263000	0.44181	0.585000	0.79938	CGG		0.562	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		20	78	0	0	0	1	0	20	78					T	56396496	C	T	56396496	3	4	83	1	0	0	0	0	1	0	0	0	15392	875	31	1	226	1	SUOX	12	56396496	Missense_Mutation	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		56396496	77455399	6	1512											
THBS1	7057	broad.mit.edu	37	15	39885603	39885603	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr15:39885603G>A	ENST00000260356.5	+	19	3166	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1001	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCCAGGTTATGATGAGTTTAA	0.498																																						uc001zkh.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3001-3003)Gat>Aat		Homo sapiens thrombospondin 1 (THBS1), mRNA.	Becaplermin(DB00102)						246	257	253					15																	39885603		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885603G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3001G>A	15.37:g.39885603G>A	ENSP00000260356:p.Asp1001Asn		Somatic				THBS1_uc010bbi.3_Missense_Mutation_p.D473N	p.D1001N	NM_003246	NP_003237	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	18	3180	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1001			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3001G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214235	0.79352	.	.	ENSG00000137801	ENST00000260356	D	0.91351	-2.83	5.77	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.37261	N	0.002161	D	0.94745	0.8304	M	0.77486	2.375	0.58432	D	0.999998	D;D	0.69078	0.997;0.958	D;P	0.68765	0.96;0.623	D	0.95165	0.8285	10	0.72032	D	0.01	-21.2984	14.6653	0.68904	0.0699:0.0:0.9301:0.0	.	916;1001	B4E3J7;P07996	.;TSP1_HUMAN	N	1001	ENSP00000260356:D1001N	ENSP00000260356:D1001N	D	+	1	0	THBS1	37672895	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	5.337000	0.65941	1.429000	0.47314	0.655000	0.94253	GAT		0.498	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		17	415	0	0	0	1	0	17	415					A	39885603	G	A	39885603	3	1	83	1	0	0	0	0	1	0	0	0	15850	1290	45	2	3071	2	THBS1	15	39885603	Missense_Mutation	SNP	G	TCGA-DJ-A2PR-01A-11D-A19J-08		39885603	62645789	7	1513											
SETD1A	9739	broad.mit.edu	37	16	30990483	30990483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr16:30990483delC	ENST00000262519.8	+	14	4062	c.3376delC	c.(3376-3378)cccfs	p.P1127fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1127	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGAGGAGTCACCCCCCAGTGC	0.697																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3376-3378)cccfs		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							9	10	10					16																	30990483		2141	4248	6389	SO:0001589	frameshift_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	g.chr16:30990483delC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3376delC	16.37:g.30990483delC	ENSP00000262519:p.Pro1127fs		Somatic					p.P1126fs	NM_014712	NP_055527	WXS	Illumina GAIIx	Phase_I	O15047	SET1A_HUMAN			13	4062	+			1126			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Del	DEL	ENST00000262519.8	37	c.3376delC	CCDS32435.1																																																																																				0.697	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		2	4						2	4	---	---	---	---	-	30990483	C	-	30990483	7	5	83	1	0	1	0	1	0	0	0	0	14130	507	18	0	3426	0	SETD1A	16	30990483	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PR-01A-11D-A19J-08		30990483	59364270	8	1514											
MAP3K3	4215	broad.mit.edu	37	17	61762904	61762904	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr17:61762904A>T	ENST00000361733.3	+	8	984	c.664A>T	c.(664-666)Aat>Tat	p.N222Y	MAP3K3_ENST00000579585.1_Missense_Mutation_p.N253Y|MAP3K3_ENST00000361357.3_Missense_Mutation_p.N253Y|MAP3K3_ENST00000577395.1_Missense_Mutation_p.N222Y|MAP3K3_ENST00000584573.1_Missense_Mutation_p.N253Y	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	222					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGTGCAGAAAATTCCTTGTC	0.512																																						uc002jbe.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(757-759)Aat>Tat		Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.							125	103	110					17																	61762904		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61762904A>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.664A>T	17.37:g.61762904A>T	ENSP00000354485:p.Asn222Tyr		Somatic				MAP3K3_uc002jbf.3_Missense_Mutation_p.N253Y|MAP3K3_uc002jbg.3_Missense_Mutation_p.N222Y|MAP3K3_uc002jbh.3_Missense_Mutation_p.N253Y|MAP3K3_uc010wpo.2_Missense_Mutation_p.N137Y|MAP3K3_uc010wpp.2_Missense_Mutation_p.N222Y	p.N253Y	NM_203351	NP_976226	WXS	Illumina GAIIx	Phase_I	Q99759	M3K3_HUMAN			9	823	+			222					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.757A>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.996548	0.93167	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.70631	-0.5;-0.47	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.995;0.997	P;D;D;D	0.70016	0.899;0.947;0.928;0.967	D	0.85739	0.1336	10	0.66056	D	0.02	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	222;190;222;253	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	Y	253;222	ENSP00000354927:N253Y;ENSP00000354485:N222Y	ENSP00000354927:N253Y	N	+	1	0	MAP3K3	59116636	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	9.237000	0.95368	2.371000	0.80710	0.533000	0.62120	AAT		0.512	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		32	62	0	0	0	1	0	32	62					T	61762904	A	T	61762904	3	4	83	1	0	0	0	0	1	0	0	0	9251	14	1	5	791	5	MAP3K3	17	61762904	Missense_Mutation	SNP	A	TCGA-DJ-A2PR-01A-11D-A19J-08		61762904	19432306	9	1515											
MYH14	79784	broad.mit.edu	37	19	50720898	50720898	+	Silent	SNP	C	C	T			TCGA-DJ-A2PR-01A-11D-A19J-08	TCGA-DJ-A2PR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be525078-277f-4f63-9e91-c9db569d85bf	93639137-87a5-48bb-a83b-e5114e86de70	g.chr19:50720898C>T	ENST00000596571.1	+	2	432	c.432C>T	c.(430-432)gtC>gtT	p.V144V	MYH14_ENST00000440075.2_Silent_p.V144V|MYH14_ENST00000425460.1_Silent_p.V144V|MYH14_ENST00000601313.1_Silent_p.V144V|MYH14_ENST00000598205.1_Silent_p.V144V|MYH14_ENST00000262269.8_Silent_p.V144V|MYH14_ENST00000376970.2_Silent_p.V144V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	144	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTGTGTGGTCATCAACCCGT	0.597																																						uc010enu.1																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(430-432)gtC>gtT		Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.							114	125	121					19																	50720898		2197	4292	6489	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	g.chr19:50720898C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.432C>T	19.37:g.50720898C>T			Somatic				MYH14_uc002prq.1_Silent_p.V144V|MYH14_uc002prr.1_Silent_p.V144V	p.V144V	NM_001145809	NP_001139281	WXS	Illumina GAIIx	Phase_I	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	2	479	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	144			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.432C>T	CCDS59411.1																																																																																				0.597	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		13	164	0	0	0	1	0	13	164					T	50720898	C	T	50720898	2	4	83	1	0	0	0	0	0	0	0	1	10033	813	29	2		2	MYH14	19	50720898	Silent	SNP	C	TCGA-DJ-A2PR-01A-11D-A19J-08		50720898	8408085	10	1516											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	56	0	0	0	1	0	18	56					T	140453136	A	T	140453136	3	4	84	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PS-01A-11D-A18F-08		140453136	18685527	1	1517											
DENND4C	55667	broad.mit.edu	37	9	19360258	19360258	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr9:19360258G>A	ENST00000380432.2	+	24	4355	c.4322G>A	c.(4321-4323)aGa>aAa	p.R1441K	DENND4C_ENST00000434457.2_Missense_Mutation_p.R1726K|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1677K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1441					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTAGGAAAAAGACCCAATCCT	0.363																																						uc003znq.3																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4321-4323)aGa>aAa		Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.							91	95	94					9																	19360258		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19360258G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4322G>A	9.37:g.19360258G>A	ENSP00000369797:p.Arg1441Lys		Somatic				DENND4C_uc011lnc.2_Missense_Mutation_p.R771K|DENND4C_uc011lnd.2_Missense_Mutation_p.R729K|DENND4C_uc003znr.3_Missense_Mutation_p.R729K|DENND4C_uc003zns.3_Missense_Mutation_p.R623K	p.R1441K	NM_017925	NP_060395	WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			23	4402	+			1441					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.4322G>A		.	.	.	.	.	.	.	.	.	.	G	12.52	1.962511	0.34659	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.22539	1.95;1.95	5.68	3.84	0.44239	.	0.114139	0.56097	D	0.000033	T	0.18593	0.0446	L	0.46157	1.445	0.33892	D	0.637434	B;B;B	0.31274	0.317;0.082;0.047	B;B;B	0.31946	0.138;0.059;0.034	T	0.23084	-1.0198	9	.	.	.	-12.0227	10.8682	0.46869	0.2057:0.0:0.7943:0.0	.	771;623;1441	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	K	1441;914;623;771;914;623;438	ENSP00000305795:R914K;ENSP00000443804:R771K	.	R	+	2	0	DENND4C	19350258	0.782000	0.28689	0.975000	0.42487	0.994000	0.84299	2.336000	0.43938	1.391000	0.46566	0.655000	0.94253	AGA		0.363	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		5	149	0	0	0	1	0	5	149					A	19360258	G	A	19360258	3	1	84	1	0	0	0	0	1	0	0	0	4435	942	33	2	4416	2	DENND4C	9	19360258	Missense_Mutation	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		19360258	121853173	2	1518											
NUDT5	11164	broad.mit.edu	37	10	12215790	12215790	+	Silent	SNP	G	G	A			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr10:12215790G>A	ENST00000491614.1	-	6	707	c.312C>T	c.(310-312)acC>acT	p.T104T	NUDT5_ENST00000378940.3_Silent_p.T104T|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Silent_p.T117T|NUDT5_ENST00000537776.1_Silent_p.T104T|NUDT5_ENST00000378927.3_Silent_p.T104T			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	104	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTGCTTCTGGGGTTTCACCAT	0.458																																						uc001ilj.3																			0		p.E103K(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(310-312)acC>acT		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA.							154	160	158					10																	12215790		2203	4300	6503	SO:0001819	synonymous_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12215790G>A	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.312C>T	10.37:g.12215790G>A			Somatic					p.T104T	NM_014142	NP_054861	WXS	Illumina GAIIx	Phase_I	Q9UKK9	NUDT5_HUMAN			5	728	-		Renal(717;0.228)	104			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Silent	SNP	ENST00000491614.1	37	c.312C>T	CCDS7089.1																																																																																				0.458	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			73	148	0	0	0	1	0	73	148					A	12215790	G	A	12215790	2	1	84	1	0	0	0	0	0	0	0	1	10742	1219	43	2		2	NUDT5	10	12215790	Silent	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		12215790	123318957	3	1519											
TSPAN4	7106	broad.mit.edu	37	11	865530	865530	+	Silent	SNP	G	G	A	rs371470307		TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr11:865530G>A	ENST00000397404.1	+	6	607	c.348G>A	c.(346-348)caG>caA	p.Q116Q	TSPAN4_ENST00000397397.2_Silent_p.Q116Q|TSPAN4_ENST00000397411.2_Silent_p.Q116Q|TSPAN4_ENST00000525201.1_Silent_p.Q52Q|TSPAN4_ENST00000397396.1_Silent_p.Q52Q|TSPAN4_ENST00000409531.1_Silent_p.Q135Q|TSPAN4_ENST00000346501.4_Intron|TSPAN4_ENST00000409543.2_Silent_p.Q116Q|TSPAN4_ENST00000397408.1_Silent_p.Q116Q|TSPAN4_ENST00000397406.1_Silent_p.Q116Q	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	116					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTATGCCCAGCAAGACCTGA	0.667																																						uc001lsd.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(346-348)caG>caA		Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.		G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	37	36	37		348,348,348,348,348,156,348	0.1	0.5	11		37	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TSPAN4	NM_001025234.1,NM_001025235.1,NM_001025236.1,NM_001025237.1,NM_001025238.1,NM_001025239.1,NM_003271.4	,,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	116/239,116/239,116/239,116/239,116/239,52/175,116/239	865530	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7106				protein complex assembly	integral to plasma membrane		g.chr11:865530G>A	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.348G>A	11.37:g.865530G>A			Somatic				TSPAN4_uc001lse.1_Silent_p.Q52Q|TSPAN4_uc001lsf.1_Silent_p.Q116Q|TSPAN4_uc001lsg.1_Silent_p.Q116Q|TSPAN4_uc001lsh.1_Silent_p.Q116Q|TSPAN4_uc001lsi.1_Silent_p.Q116Q|TSPAN4_uc001lsj.1_Silent_p.Q116Q	p.Q116Q	NM_003271	NP_001020410	WXS	Illumina GAIIx	Phase_I	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	557	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	116					Q6IAP6	Silent	SNP	ENST00000397404.1	37	c.348G>A	CCDS7721.1																																																																																				0.667	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			3	27	0	0	0	1	0	3	27					A	865530	G	A	865530	2	1	84	1	0	0	0	0	0	0	0	1	16646	962	34	2		2	TSPAN4	11	865530	Silent	SNP	G	TCGA-DJ-A2PS-01A-11D-A18F-08		865530	134140986	4	1520											
ARAP1	116985	broad.mit.edu	37	11	72406076	72406076	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PS-01A-11D-A18F-08	TCGA-DJ-A2PS-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96c450fe-4e43-43b3-9adc-6549c6fff902	dd8e6cf7-7163-4b83-a429-6f19ce5690b3	g.chr11:72406076T>C	ENST00000393609.3	-	27	3845	c.3643A>G	c.(3643-3645)Agg>Ggg	p.R1215G	ARAP1_ENST00000426523.1_Missense_Mutation_p.R970G|ARAP1_ENST00000359373.5_Missense_Mutation_p.R1215G|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1215G|ARAP1_ENST00000429686.1_Missense_Mutation_p.R909G|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.R970G|ARAP1_ENST00000393605.3_Missense_Mutation_p.R975G	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1215	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)	p.R975G(1)|p.R1215G(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCTTCTCCCTGATGCCCACG	0.587																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.3																			2	Substitution - Missense(2)	p.R975G(1)|p.R1215G(1)	endometrium(2)	cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3643-3645)Agg>Ggg		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.							159	114	129					11																	72406076		2200	4293	6493	SO:0001583	missense	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	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding	g.chr11:72406076T>C	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3643A>G	11.37:g.72406076T>C	ENSP00000377233:p.Arg1215Gly		Somatic				ARAP1_uc001osv.3_Missense_Mutation_p.R1215G|ARAP1_uc001osr.3_Missense_Mutation_p.R975G|ARAP1_uc001oss.3_Missense_Mutation_p.R970G|ARAP1_uc009yth.3_Missense_Mutation_p.R909G|ARAP1_uc010rre.2_Missense_Mutation_p.R970G	p.R1215G	NM_001040118	NP_056057	WXS	Illumina GAIIx	Phase_I	Q96P48	ARAP1_HUMAN			26	3832	-			1215			Ras-associating.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3643A>G	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	T	7.560	0.664465	0.14710	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.36	4.2	0.49525	Ras-association (2);	0.374927	0.28006	N	0.016979	T	0.09949	0.0244	N	0.11427	0.14	0.29129	N	0.87977	B;P;P;B;B	0.45827	0.0;0.867;0.683;0.004;0.001	B;B;B;B;B	0.42522	0.01;0.39;0.196;0.01;0.006	T	0.08207	-1.0733	10	0.23891	T	0.37	.	11.3142	0.49381	0.0:0.0:0.1527:0.8473	.	970;909;1215;1215;975	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	G	1215;1215;975;970;1215;970;909;19	ENSP00000352332:R1215G;ENSP00000390461:R1215G;ENSP00000377230:R975G;ENSP00000335506:R970G;ENSP00000377233:R1215G;ENSP00000392264:R970G;ENSP00000403127:R909G;ENSP00000441741:R19G	ENSP00000335506:R970G	R	-	1	2	ARAP1	72083724	0.306000	0.24490	1.000000	0.80357	0.450000	0.32258	1.116000	0.31221	0.846000	0.35142	0.533000	0.62120	AGG		0.587	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		3	31	0	0	0	1	0	3	31					C	72406076	T	C	72406076	3	2	84	1	0	0	0	0	1	0	0	0	838	1579	55	3	745	3	ARAP1	11	72406076	Missense_Mutation	SNP	T	TCGA-DJ-A2PS-01A-11D-A18F-08	71540546	72406076	62600440	5	1521											
RANBP2	5903	broad.mit.edu	37	2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr2:109365442C>T	ENST00000283195.6	+	9	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	377					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAACTTTTGCCAACAAAAGC	0.348																																						uc002tem.4																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1129-1131)gCc>gTc		Homo sapiens RAN binding protein 2 (RANBP2), mRNA.							200	215	210					2																	109365442		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding	g.chr2:109365442C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1130C>T	2.37:g.109365442C>T	ENSP00000283195:p.Ala377Val		Somatic					p.A377V	NM_006267	NP_006258	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			8	1256	+			377					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1130C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423130	0.62733	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.33216	1.42	5.53	5.53	0.82687	.	.	.	.	.	T	0.54919	0.1888	L	0.60455	1.87	0.37478	D	0.915879	D	0.76494	0.999	D	0.80764	0.994	T	0.59172	-0.7504	9	0.87932	D	0	-10.3724	19.8143	0.96560	0.0:1.0:0.0:0.0	.	377	P49792	RBP2_HUMAN	V	377	ENSP00000283195:A377V	ENSP00000283195:A377V	A	+	2	0	RANBP2	108731874	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	4.255000	0.58804	2.747000	0.94245	0.650000	0.86243	GCC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	290	0	0	0	1	0	5	290					T	109365442	C	T	109365442	3	4	85	1	0	0	0	0	1	0	0	0	13028	739	26	2	1164	2	RANBP2	2	109365442	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		109365442	133833931	1	1522											
NCK1	4690	broad.mit.edu	37	3	136647064	136647064	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr3:136647064C>T	ENST00000481752.1	+	2	385	c.221C>T	c.(220-222)aCc>aTc	p.T74I	NCK1_ENST00000288986.2_Missense_Mutation_p.T74I|NCK1_ENST00000469404.1_5'Flank			P16333	NCK1_HUMAN	NCK adaptor protein 1	74					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTAAAGGATACCTTAGGTAAG	0.333																																						uc003erh.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(220-222)aCc>aTc		Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.							44	46	45					3																	136647064		2203	4300	6503	SO:0001583	missense	4690				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136647064C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.221C>T	3.37:g.136647064C>T	ENSP00000417273:p.Thr74Ile		Somatic				NCK1_uc011bme.2_5'Flank	p.T74I	NM_006153	NP_006144	WXS	Illumina GAIIx	Phase_I	P16333	NCK1_HUMAN			1	351	+			74					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.221C>T	CCDS3092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.915859|3.915859	0.73098|0.73098	.|.	.|.	ENSG00000158092|ENSG00000158092	ENST00000496489|ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	.|T;T;T;T;T;T	.|0.68765	.|-0.35;-0.35;1.38;1.39;1.68;1.36	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.209128	.|0.48767	.|D	.|0.000173	T|T	0.67088|0.67088	0.2856|0.2856	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P	.|0.41080	.|0.737	.|B	.|0.39876	.|0.312	T|T	0.66244|0.66244	-0.5972|-0.5972	5|10	.|0.37606	.|T	.|0.19	-23.893|-23.893	18.1586|18.1586	0.89701|0.89701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|74	.|P16333	.|NCK1_HUMAN	S|I	62|74	.|ENSP00000288986:T74I;ENSP00000417273:T74I;ENSP00000419302:T74I;ENSP00000419677:T74I;ENSP00000418513:T74I;ENSP00000417729:T74I	.|ENSP00000288986:T74I	P|T	+|+	1|2	0|0	NCK1|NCK1	138129754|138129754	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.936000|0.936000	0.57629|0.57629	7.451000|7.451000	0.80668|0.80668	2.890000|2.890000	0.99128|0.99128	0.655000|0.655000	0.94253|0.94253	CCT|ACC		0.333	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		11	23	0	0	0	1	0	11	23					T	136647064	C	T	136647064	3	4	85	1	0	0	0	0	1	0	0	0	10219	507	18	2	223	2	NCK1	3	136647064	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		136647064	61375366	2	1523											
TPRG1	285386	broad.mit.edu	37	3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473																																						uc003frv.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(541-543)cGc>cAc		Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.							80	78	79					3																	189028237		2203	4300	6503	SO:0001583	missense	285386							g.chr3:189028237G>A	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.542G>A	3.37:g.189028237G>A	ENSP00000341031:p.Arg181His		Somatic				TPRG1_uc003frw.2_Missense_Mutation_p.R181H	p.R181H	NM_198485	NP_940887	WXS	Illumina GAIIx	Phase_I	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	9	1769	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	181						Missense_Mutation	SNP	ENST00000345063.3	37	c.542G>A	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865563	0.71949	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.83	4.93	0.64822	.	0.052144	0.64402	D	0.000001	T	0.61350	0.2340	M	0.74647	2.275	0.52099	D	0.999945	B	0.17465	0.022	B	0.10450	0.005	T	0.62248	-0.6894	9	0.87932	D	0	-2.1854	10.2396	0.43303	0.1661:0.0:0.8339:0.0	.	181	Q6ZUI0	TPRG1_HUMAN	H	181	.	ENSP00000341031:R181H	R	+	2	0	TPRG1	190510931	1.000000	0.71417	0.494000	0.27515	0.710000	0.40934	4.374000	0.59543	1.416000	0.47057	0.585000	0.79938	CGC		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		4	60	0	0	0	1	0	4	60					A	189028237	G	A	189028237	3	1	85	1	0	0	0	0	1	0	0	0	16415	1087	38	1	556	1	TPRG1	3	189028237	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	52381173	189028237	8994193	3	1524											
PRDM8	56978	broad.mit.edu	37	4	81124216	81124216	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr4:81124216C>T	ENST00000504452.1	+	8	2439	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	PRDM8_ENST00000339711.4_Missense_Mutation_p.P534S|PRDM8_ENST00000415738.2_Missense_Mutation_p.P534S			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	534					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						CGGCGTGGGCCCCACCAGACT	0.731																																						uc010ijo.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(1600-1602)Ccc>Tcc		Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.							4	4	4					4																	81124216		1225	2945	4170	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81124216C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1600C>T	4.37:g.81124216C>T	ENSP00000423985:p.Pro534Ser		Somatic				PRDM8_uc003hmb.4_Missense_Mutation_p.P534S|PRDM8_uc003hmc.4_Missense_Mutation_p.P534S	p.P534S	NM_020226	NP_064611	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			7	2439	+			534					A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.1600C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742496	0.30865	.	.	ENSG00000152784	ENST00000504452;ENST00000339711;ENST00000415738	T;T;T	0.63744	-0.06;-0.06;-0.06	3.46	3.46	0.39613	.	0.221553	0.38959	N	0.001514	T	0.28599	0.0708	N	0.02011	-0.69	0.28984	N	0.888477	B	0.30068	0.267	B	0.25291	0.059	T	0.17776	-1.0358	10	0.18710	T	0.47	.	7.9823	0.30192	0.2441:0.7559:0.0:0.0	.	534	Q9NQV8	PRDM8_HUMAN	S	534	ENSP00000423985:P534S;ENSP00000339764:P534S;ENSP00000406998:P534S	ENSP00000339764:P534S	P	+	1	0	PRDM8	81343240	0.806000	0.28996	1.000000	0.80357	0.973000	0.67179	0.601000	0.24119	1.733000	0.51620	0.461000	0.40582	CCC		0.731	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			6	6	0	0	0	1	0	6	6					T	81124216	C	T	81124216	3	4	85	1	0	0	0	0	1	0	0	0	12462	623	22	2	1610	2	PRDM8	4	81124216	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		81124216	110030060	4	1525											
GPRIN3	285513	broad.mit.edu	37	4	90170054	90170054	+	Missense_Mutation	SNP	G	G	T	rs373856944		TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr4:90170054G>T	ENST00000609438.1	-	2	1726	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A403D	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	403										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCGTTGGAAAGCTGTAGACTC	0.532																																						uc003hsm.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1207-1209)gCt>gAt		Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.							93	96	95					4																	90170054		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170054G>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1208C>A	4.37:g.90170054G>T	ENSP00000476603:p.Ala403Asp		Somatic				GPRIN3_uc021xqb.1_Missense_Mutation_p.A403D	p.A403D	NM_198281	NP_938022	WXS	Illumina GAIIx	Phase_I	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	1	1727	-		Hepatocellular(203;0.114)	403					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1208C>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195046	0.38806	.	.	ENSG00000185477	ENST00000333209	T	0.13901	2.55	5.26	4.4	0.53042	.	0.519516	0.14456	N	0.318491	T	0.18045	0.0433	L	0.32530	0.975	0.09310	N	1	D	0.56746	0.977	P	0.53593	0.73	T	0.07009	-1.0795	10	0.72032	D	0.01	-1.683	8.4964	0.33130	0.0:0.1401:0.6374:0.2225	.	403	Q6ZVF9	GRIN3_HUMAN	D	403	ENSP00000328672:A403D	ENSP00000328672:A403D	A	-	2	0	GPRIN3	90389077	0.796000	0.28864	0.002000	0.10522	0.001000	0.01503	3.368000	0.52357	1.404000	0.46819	0.655000	0.94253	GCT		0.532	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		7	127	0	0	0	1	0	7	127					T	90170054	G	T	90170054	3	4	85	1	0	0	0	0	1	0	0	0	6731	971	34	4	1126	4	GPRIN3	4	90170054	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	9045838	90170054	100984222	5	1526											
PCDHA10	56139	broad.mit.edu	37	5	140237799	140237799	+	Silent	SNP	G	G	A			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr5:140237799G>A	ENST00000307360.5	+	1	2166	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	722					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(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGTGCTCGGCGGCGCCCA	0.662																																						uc003lhx.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2164-2166)tcG>tcA		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							25	22	23					5																	140237799		1321	2291	3612	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140237799G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2166G>A	5.37:g.140237799G>A			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.S722S	p.S722S	NM_018901	NP_061724	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2166	+			738					A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.2166G>A	CCDS54921.1																																																																																				0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		15	27	0	0	0	1	0	15	27					A	140237799	G	A	140237799	2	1	85	1	0	0	0	0	0	0	0	1	11520	1103	39	1		1	PCDHA10	5	140237799	Silent	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		140237799	40677461	6	1527											
TBC1D7	51256	broad.mit.edu	37	6	13307947	13307947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr6:13307947C>A	ENST00000379300.3	-	6	793	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	TBC1D7_ENST00000607658.1_Nonsense_Mutation_p.E157*|TBC1D7_ENST00000356436.4_Nonsense_Mutation_p.E184*|TBC1D7_ENST00000379307.2_Nonsense_Mutation_p.E157*|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Nonsense_Mutation_p.E138*	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	184	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGCCATCTTCCAGATTCAAG	0.423																																						uc003naj.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(550-552)Gaa>Taa		Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.							87	82	84					6																	13307947		2203	4300	6503	SO:0001587	stop_gained	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding	g.chr6:13307947C>A	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.550G>T	6.37:g.13307947C>A	ENSP00000368602:p.Glu184*		Somatic				TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nan.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nam.3_Nonsense_Mutation_p.E184*|TBC1D7_uc003nao.3_Nonsense_Mutation_p.E157*|TBC1D7_uc010jpd.3_Nonsense_Mutation_p.E138*	p.E184*	NM_016495	NP_057579	WXS	Illumina GAIIx	Phase_I	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		5	658	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	184			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Nonsense_Mutation	SNP	ENST00000379300.3	37	c.550G>T	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	38	6.858814	0.97889	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-24.7526	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	125;184;184;157;138;157;157;184;157;157	.	ENSP00000334212:E125X	E	-	1	0	TBC1D7	13415926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.324000	0.79115	2.941000	0.99782	0.655000	0.94253	GAA		0.423	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		15	54	0	0	0	1	0	15	54					A	13307947	C	A	13307947	4	1	85	1	0	0	0	0	0	1	0	0	15621	864	30	4	343	4	TBC1D7	6	13307947	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		13307947	157807120	7	1528											
TIAM2	26230	broad.mit.edu	37	6	155569232	155569232	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr6:155569232A>G	ENST00000461783.3	+	22	5024	c.3751A>G	c.(3751-3753)Aga>Gga	p.R1251G	TIAM2_ENST00000318981.5_Missense_Mutation_p.R1251G|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1275G|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1251G|TIAM2_ENST00000528391.2_Missense_Mutation_p.R587G|TIAM2_ENST00000367174.2_Missense_Mutation_p.R627G|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1251G|TIAM2_ENST00000275246.7_Missense_Mutation_p.R176G|TIAM2_ENST00000456877.2_Missense_Mutation_p.R563G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1251	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCGGTTCAGAGAGTGCTCAA	0.607											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3751-3753)Aga>Gga		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							55	50	52					6																	155569232		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	g.chr6:155569232A>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3751A>G	6.37:g.155569232A>G	ENSP00000437188:p.Arg1251Gly		Somatic	OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_uc003qqe.3_Missense_Mutation_p.R1251G|TIAM2_uc010kjj.3_Missense_Mutation_p.R784G|TIAM2_uc003qqf.3_Missense_Mutation_p.R627G|TIAM2_uc011efl.1_Missense_Mutation_p.R587G|TIAM2_uc003qqg.3_Missense_Mutation_p.R563G|TIAM2_uc003qqh.3_Missense_Mutation_p.R176G	p.R1251G	NM_012454	NP_036586	WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	21	5024	+		Ovarian(120;0.196)	1251			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3751A>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147783	0.78001	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	D;D;D;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.64	3.15	0.36227	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	H	0.98466	4.24	0.53005	D	0.999961	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	0.95337	0.8435	10	0.87932	D	0	.	12.474	0.55803	0.5972:0.4027:0.0:0.0	.	587;1251;1275;1251	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	G	1251;1497;1251;1251;1251;627;1275;1251;563;587;176	ENSP00000437188:R1251G;ENSP00000434901:R1251G;ENSP00000407746:R1251G;ENSP00000327315:R1251G;ENSP00000356142:R627G;ENSP00000353528:R1275G;ENSP00000433348:R1251G;ENSP00000407183:R563G;ENSP00000435335:R587G;ENSP00000275246:R176G	ENSP00000275246:R176G	R	+	1	2	TIAM2	155610924	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.418000	0.52721	0.374000	0.24650	0.533000	0.62120	AGA		0.607	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		3	65	0	0	0	1	0	3	65					G	155569232	A	G	155569232	3	3	85	1	0	0	0	0	1	0	0	0	15888	296	11	3	3817	3	TIAM2	6	155569232	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08	142261285	155569232	15545835	8	1529											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	54	0	0	0	1	0	23	54					T	140453136	A	T	140453136	3	4	85	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08		140453136	18685527	9	1530											
PAOX	196743	broad.mit.edu	37	10	135202535	135202535	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr10:135202535A>G	ENST00000480071.2	+	4	974	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	PAOX_ENST00000278060.5_Silent_p.V399V|RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.V399V	NM_207127.1	NP_997010.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	0					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ATGAAGAAGTACTTCTGTGTC	0.527																																						uc001lmy.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(943-945)tAc>tGc		Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 4, mRNA.							241	236	237					10																	135202535		2203	4300	6503	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135202535A>G	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000480071.2:c.944A>G	10.37:g.135202535A>G	ENSP00000435514:p.Tyr315Cys		Somatic				PAOX_uc001lmv.3_Silent_p.V399V|PAOX_uc001lmx.3_Silent_p.V399V|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Non-coding_Transcript	p.Y315C	NM_207127	NP_997010	WXS	Illumina GAIIx	Phase_I	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	3	1024	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	0					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000480071.2	37	c.944A>G	CCDS7684.1	.	.	.	.	.	.	.	.	.	.	N	10.44	1.351423	0.24512	.	.	ENSG00000148832	ENST00000480071	.	.	.	5.54	-0.00206	0.14031	.	.	.	.	.	T	0.42630	0.1211	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	7	0.87932	D	0	-29.5902	5.1584	0.15048	0.2473:0.2741:0.4786:0.0	.	315	Q6QHF9-5	.	C	315	.	ENSP00000348654:Y315C	Y	+	2	0	PAOX	135052525	0.801000	0.28930	0.952000	0.39060	0.571000	0.35966	0.069000	0.14552	0.013000	0.14918	-0.177000	0.13119	TAC		0.527	PAOX-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390367.1	NM_152911		7	218	0	0	0	1	0	7	218					G	135202535	A	G	135202535	3	3	85	1	0	0	0	0	1	0	0	0	11423	391	14	3	1215	3	PAOX	10	135202535	Missense_Mutation	SNP	A	TCGA-DJ-A2PT-01A-11D-A18F-08		135202535	332212	10	1531											
B3GAT1	27087	broad.mit.edu	37	11	134252734	134252734	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr11:134252734C>T	ENST00000524765.1	-	4	5332	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	B3GAT1_ENST00000537389.1_Missense_Mutation_p.R276Q|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R263Q|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R263Q			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	263					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CAGAATGAGCCGCAGGTTGAC	0.592																																						uc010scv.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(826-828)cGg>cAg		Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 2, mRNA.							107	84	92					11																	134252734		2201	4297	6498	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134252734C>T	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.788G>A	11.37:g.134252734C>T	ENSP00000433847:p.Arg263Gln		Somatic				B3GAT1_uc001qhq.3_Missense_Mutation_p.R263Q|B3GAT1_uc001qhr.3_Missense_Mutation_p.R263Q	p.R276Q	NM_054025	NP_473366	WXS	Illumina GAIIx	Phase_I	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	867	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	263					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.827G>A	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686547	0.47991	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.22	4.3	0.51218	.	0.104326	0.64402	D	0.000007	T	0.42899	0.1223	N	0.17379	0.485	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.09377	0.002;0.004	T	0.27839	-1.0062	10	0.10377	T	0.69	-29.4685	13.7671	0.63002	0.0:0.9261:0.0:0.0739	.	276;263	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	Q	263;263;263;276	ENSP00000376359:R263Q;ENSP00000307875:R263Q;ENSP00000433847:R263Q;ENSP00000445983:R276Q	ENSP00000307875:R263Q	R	-	2	0	B3GAT1	133757944	0.149000	0.22717	1.000000	0.80357	0.993000	0.82548	1.290000	0.33319	1.427000	0.47276	0.491000	0.48974	CGG		0.592	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		12	37	0	0	0	1	0	12	37					T	134252734	C	T	134252734	3	4	85	1	0	0	0	0	1	0	0	0	1253	652	23	1	224	1	B3GAT1	11	134252734	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		134252734	753782	11	1532											
CDCA3	83461	broad.mit.edu	37	12	6960070	6960070	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr12:6960070G>A	ENST00000538862.2	-	2	948	c.47C>T	c.(46-48)cCg>cTg	p.P16L	USP5_ENST00000389231.5_5'Flank|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.P16L|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.P16L|CDCA3_ENST00000422785.3_Missense_Mutation_p.P16L|CDCA3_ENST00000540683.1_Missense_Mutation_p.P16L			Q99618	CDCA3_HUMAN	cell division cycle associated 3	16					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						CTTGTTGTGCGGCGGAGGCCG	0.662																																						uc001qrg.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						c.(46-48)cCg>cTg		Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.							35	34	34					12																	6960070		2203	4299	6502	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6960070G>A	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"trigger of mitotic entry 1"	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.47C>T	12.37:g.6960070G>A	ENSP00000442068:p.Pro16Leu		Somatic				CDCA3_uc001qre.2_Missense_Mutation_p.P16L|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	p.P16L	NM_031299	NP_112589	WXS	Illumina GAIIx	Phase_I	Q99618	CDCA3_HUMAN			1	175	-			16					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.47C>T	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840219	0.32513	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000229265;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.81	3.06	0.35304	.	0.140548	0.46758	N	0.000268	T	0.23492	0.0568	L	0.31752	0.955	0.09310	N	0.999999	B;B	0.25667	0.131;0.016	B;B	0.20384	0.029;0.011	T	0.26395	-1.0104	9	0.06494	T	0.89	-8.5126	7.8515	0.29457	0.3622:0.0:0.6378:0.0	.	16;16	Q99618;F8WDL1	CDCA3_HUMAN;.	L	16	.	ENSP00000229265:P16L	P	-	2	0	U47924.25;CDCA3	6830331	0.672000	0.27530	0.836000	0.33094	0.983000	0.72400	0.262000	0.18460	0.399000	0.25367	-0.137000	0.14449	CCG		0.662	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299		3	37	0	0	0	1	0	3	37					A	6960070	G	A	6960070	3	1	85	1	0	0	0	0	1	0	0	0	3087	1116	39	1	779	1	CDCA3	12	6960070	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		6960070	126891825	12	1533											
APAF1	317	broad.mit.edu	37	12	99042229	99042229	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr12:99042229G>A	ENST00000551964.1	+	2	828	c.92G>A	c.(91-93)aGt>aAt	p.S31N	APAF1_ENST00000359972.2_Missense_Mutation_p.S31N|APAF1_ENST00000339433.3_Missense_Mutation_p.S31N|APAF1_ENST00000549007.1_Missense_Mutation_p.S31N|APAF1_ENST00000547045.1_Missense_Mutation_p.S31N|APAF1_ENST00000550527.1_Missense_Mutation_p.S31N|APAF1_ENST00000552268.1_Missense_Mutation_p.S31N|APAF1_ENST00000333991.1_Missense_Mutation_p.S31N|APAF1_ENST00000357310.1_Missense_Mutation_p.S31N|APAF1_ENST00000547743.1_Missense_Mutation_p.S31N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	31	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACATGATTAGTGATGGATTT	0.358																																						uc001tfz.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(91-93)aGt>aAt		Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	Adenosine triphosphate(DB00171)						142	154	150					12																	99042229		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99042229G>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.92G>A	12.37:g.99042229G>A	ENSP00000448165:p.Ser31Asn		Somatic				APAF1_uc001tfy.3_Missense_Mutation_p.S31N|APAF1_uc001tga.3_Missense_Mutation_p.S31N|APAF1_uc001tgb.3_Missense_Mutation_p.S31N|APAF1_uc001tgc.3_Missense_Mutation_p.S31N	p.S31N	NM_181861	NP_863651	WXS	Illumina GAIIx	Phase_I	O14727	APAF_HUMAN			1	669	+			31			CARD.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.92G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396539	0.42512	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000547743;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.85	1.86	0.25419	DEATH-like (2);Caspase Recruitment (2);	0.513259	0.23660	N	0.045832	T	0.25382	0.0617	M	0.71581	2.175	0.27009	N	0.96472	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.002;0.0	T	0.17868	-1.0355	10	0.33940	T	0.23	-10.7796	8.8985	0.35479	0.1579:0.3397:0.5023:0.0	.	31;31;31;31;31	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	31	ENSP00000448165:S31N;ENSP00000353059:S31N;ENSP00000349862:S31N;ENSP00000341830:S31N;ENSP00000334558:S31N;ENSP00000450175:S31N;ENSP00000448826:S31N;ENSP00000448449:S31N;ENSP00000449791:S31N;ENSP00000448161:S31N	ENSP00000334558:S31N	S	+	2	0	APAF1	97566360	1.000000	0.71417	0.911000	0.35937	0.881000	0.50899	4.020000	0.57189	0.381000	0.24851	0.655000	0.94253	AGT		0.358	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		4	136	0	0	0	1	0	4	136					A	99042229	G	A	99042229	3	1	85	1	0	0	0	0	1	0	0	0	755	1029	36	2	94	2	APAF1	12	99042229	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08	92082159	99042229	34809666	13	1534											
TRPM4	54795	broad.mit.edu	37	19	49684617	49684617	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr19:49684617T>C	ENST00000252826.5	+	10	1288	c.1162T>C	c.(1162-1164)Tcg>Ccg	p.S388P	TRPM4_ENST00000427978.2_Missense_Mutation_p.S388P|TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	388					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGTGGGAGCTCGGAGGCCTC	0.557																																						uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(1162-1164)Tcg>Ccg		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.							84	72	76					19																	49684617		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49684617T>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1162T>C	19.37:g.49684617T>C	ENSP00000252826:p.Ser388Pro		Somatic				TRPM4_uc010emu.3_Missense_Mutation_p.S388P|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.S214P|TRPM4_uc010emv.3_Missense_Mutation_p.S273P|TRPM4_uc010yal.2_Intron|TRPM4_uc002pmy.3_5'Flank	p.S388P	NM_017636	NP_060106	WXS	Illumina GAIIx	Phase_I	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	9	1270	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	388					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1162T>C	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176693	0.38413	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.36157	1.27;1.27	3.92	3.92	0.45320	.	0.559181	0.18603	N	0.136394	T	0.52581	0.1743	M	0.73962	2.25	0.80722	D	1	P;D;P	0.57899	0.95;0.981;0.883	P;P;B	0.57101	0.576;0.813;0.368	T	0.55711	-0.8098	10	0.51188	T	0.08	-2.8793	12.0522	0.53513	0.0:0.0:0.0:1.0	.	214;388;388	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	P	388	ENSP00000252826:S388P;ENSP00000407492:S388P	ENSP00000252826:S388P	S	+	1	0	TRPM4	54376429	0.543000	0.26434	0.993000	0.49108	0.034000	0.12701	1.313000	0.33585	1.547000	0.49401	0.374000	0.22700	TCG		0.557	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	99	0	0	0	1	0	3	99					C	49684617	T	C	49684617	3	2	85	1	0	0	0	0	1	0	0	0	16585	1551	54	3	1200	3	TRPM4	19	49684617	Missense_Mutation	SNP	T	TCGA-DJ-A2PT-01A-11D-A18F-08		49684617	9444366	14	1535											
TRMT6	51605	broad.mit.edu	37	20	5923212	5923212	+	Silent	SNP	C	C	T			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr20:5923212C>T	ENST00000203001.2	-	7	1018	c.888G>A	c.(886-888)caG>caA	p.Q296Q	TRMT6_ENST00000453074.2_Silent_p.Q126Q|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	296					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GTTCAGAAGCCTGTTTTTCCT	0.443																																						uc002wmh.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(886-888)caG>caA		Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.							155	150	152					20																	5923212		2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5923212C>T	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.888G>A	20.37:g.5923212C>T			Somatic				TRMT6_uc010zra.1_Silent_p.Q126Q|TRMT6_uc010gbn.1_Silent_p.Q126Q|TRMT6_uc010gbo.1_Non-coding_Transcript	p.Q296Q	NM_015939	NP_057023	WXS	Illumina GAIIx	Phase_I	Q9UJA5	TRM6_HUMAN			6	1010	-			296					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.888G>A	CCDS13093.1																																																																																				0.443	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			15	50	0	0	0	1	0	15	50					T	5923212	C	T	5923212	2	4	85	1	0	0	0	0	0	0	0	1	16565	680	24	2		2	TRMT6	20	5923212	Silent	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08		5923212	57102308	15	1536											
CBFA2T2	9139	broad.mit.edu	37	20	32199070	32199070	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chr20:32199070C>G	ENST00000346541.3	+	4	913	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L126V|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L97V|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L97V|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L136V|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L97V|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L97V|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L117V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	126	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCTTACCACTCTGCAACAGTT	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(376-378)Ctg>Gtg		Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.							151	134	140					20																	32199070		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32199070C>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.376C>G	20.37:g.32199070C>G	ENSP00000262653:p.Leu126Val		Somatic				CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.L117V|CBFA2T2_uc021wbz.1_Missense_Mutation_p.L97V|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L97V|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	p.L126V	NM_005093	NP_001034798	WXS	Illumina GAIIx	Phase_I	O43439	MTG8R_HUMAN			3	913	+			126			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.376C>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665039	0.67700	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.49	4.55	0.56014	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.80982	2.52	0.80722	D	1	D;D	0.59357	0.985;0.981	D;D	0.79108	0.992;0.987	D	0.83601	0.0128	10	0.56958	D	0.05	-0.4773	10.353	0.43948	0.0:0.8503:0.0:0.1497	.	126;117	O43439;F8W6D7	MTG8R_HUMAN;.	V	126;117;117;97;126;97;97;136	ENSP00000364428:L126V;ENSP00000345810:L117V;ENSP00000408352:L117V;ENSP00000341865:L97V;ENSP00000262653:L126V;ENSP00000380902:L97V;ENSP00000380900:L97V;ENSP00000352622:L136V	ENSP00000345810:L117V	L	+	1	2	CBFA2T2	31662731	1.000000	0.71417	0.941000	0.38009	0.710000	0.40934	4.056000	0.57448	1.317000	0.45149	0.655000	0.94253	CTG		0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		29	112	0	0	0	1	0	29	112					G	32199070	C	G	32199070	3	3	85	1	0	0	0	0	1	0	0	0	2697	912	32	4	424	4	CBFA2T2	20	32199070	Missense_Mutation	SNP	C	TCGA-DJ-A2PT-01A-11D-A18F-08	26275858	32199070	30826450	16	1537											
GPM6B	2824	broad.mit.edu	37	X	13798077	13798077	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2PT-01A-11D-A18F-08	TCGA-DJ-A2PT-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e2a898-3fc0-4fc6-9ac8-36a2508d60f4	1a164574-d0ea-4e7d-b658-7dfd876c02e9	g.chrX:13798077G>C	ENST00000356942.5	-	4	878	c.437C>G	c.(436-438)gCc>gGc	p.A146G	GPM6B_ENST00000398361.3_Missense_Mutation_p.A60G|GPM6B_ENST00000316715.4_Missense_Mutation_p.A186G|GPM6B_ENST00000454189.2_Missense_Mutation_p.A127G|GPM6B_ENST00000355135.2_Missense_Mutation_p.A186G|GPM6B_ENST00000493677.1_Missense_Mutation_p.A160G	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	146					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACCCAGCCAGGCCACTCCAAG	0.493																																						uc004cvw.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(556-558)gCc>gGc		Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.							177	142	154					X																	13798077		2203	4300	6503	SO:0001583	missense	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13798077G>C		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.437C>G	X.37:g.13798077G>C	ENSP00000349420:p.Ala146Gly		Somatic				GPM6B_uc004cvx.3_Missense_Mutation_p.A127G|GPM6B_uc011min.1_Missense_Mutation_p.A60G|GPM6B_uc004cwa.2_Missense_Mutation_p.A127G|GPM6B_uc011mim.2_Missense_Mutation_p.A160G|GPM6B_uc004cvy.2_Missense_Mutation_p.A186G|GPM6B_uc004cvz.2_Missense_Mutation_p.A146G	p.A186G	NM_001001995	NP_001001995	WXS	Illumina GAIIx	Phase_I	Q13491	GPM6B_HUMAN			4	848	-			146					O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	c.557C>G	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732901	0.69189	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000398361;ENST00000495211;ENST00000493085;ENST00000468080	D;D;D;D;D;D;D;D;D	0.99270	-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66;-5.66	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	L	0.35414	1.06	0.80722	D	1	B;B;B;B;B;B	0.27380	0.008;0.007;0.017;0.01;0.01;0.177	B;B;B;B;B;B	0.31869	0.034;0.013;0.046;0.014;0.046;0.137	D	0.97112	0.9805	10	0.36615	T	0.2	-6.5713	18.5412	0.91029	0.0:0.0:1.0:0.0	.	160;127;146;186;138;186	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	G	186;127;160;186;146;60;111;60;60	ENSP00000316861:A186G;ENSP00000389915:A127G;ENSP00000419904:A160G;ENSP00000347258:A186G;ENSP00000349420:A146G;ENSP00000381402:A60G;ENSP00000419409:A111G;ENSP00000418199:A60G;ENSP00000419779:A60G	ENSP00000316861:A186G	A	-	2	0	GPM6B	13707998	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.551000	0.82182	2.408000	0.81797	0.544000	0.68410	GCC		0.493	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		9	92	0	0	0	1	0	9	92					C	13798077	G	C	13798077	3	2	85	1	0	0	0	0	1	0	0	0	6616	1203	42	4	530	4	GPM6B	23	13798077	Missense_Mutation	SNP	G	TCGA-DJ-A2PT-01A-11D-A18F-08		13798077	141472483	17	1538											
SPTBN1	6711	broad.mit.edu	37	2	54856728	54856728	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:54856728C>A	ENST00000356805.4	+	14	2738	c.2457C>A	c.(2455-2457)gaC>gaA	p.D819E	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D806E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	819					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)			AGTCTCCAGACGTGAGGGGCA	0.637																																						uc002rxu.3																			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.(2455-2457)gaC>gaA		Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.							51	51	51					2																	54856728		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856728C>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2457C>A	2.37:g.54856728C>A	ENSP00000349259:p.Asp819Glu		Somatic				SPTBN1_uc002rxv.1_Missense_Mutation_p.D819E|SPTBN1_uc002rxx.3_Missense_Mutation_p.D806E	p.D819E	NM_003128	NP_003119	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2706	+			819					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2457C>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914892	0.17907	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.46451	0.87;0.87	5.78	-6.81	0.01704	.	0.291934	0.38272	N	0.001755	T	0.12263	0.0298	N	0.03608	-0.345	0.41484	D	0.988182	B;B	0.02656	0.0;0.0	B;B	0.14578	0.006;0.011	T	0.28170	-1.0052	10	0.08599	T	0.76	.	8.2631	0.31797	0.0:0.4587:0.2221:0.3193	.	806;819	Q01082-3;Q01082	.;SPTB2_HUMAN	E	819;806	ENSP00000349259:D819E;ENSP00000334156:D806E	ENSP00000334156:D806E	D	+	3	2	SPTBN1	54710232	0.049000	0.20398	0.218000	0.23776	0.966000	0.64601	-0.935000	0.03950	-1.268000	0.02439	0.655000	0.94253	GAC		0.637	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			28	45	0	0	0	1	0	28	45					A	54856728	C	A	54856728	3	1	86	1	0	0	0	0	1	0	0	0	15118	535	19	4	2620	4	SPTBN1	2	54856728	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		54856728	188342645	1	1539											
DTYMK	1841	broad.mit.edu	37	2	242617953	242617953	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:242617953G>T	ENST00000305784.2	-	4	649	c.442C>A	c.(442-444)Cat>Aat	p.H148N		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	148					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TAGCGCTCATGGCCAAACGCT	0.577																																						uc002wbz.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(442-444)Cat>Aat		Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA.							78	83	81					2																	242617953		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242617953G>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"dTMP kinase", "thymidylate (dTMP) kinase"	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.442C>A	2.37:g.242617953G>T	ENSP00000304802:p.His148Asn		Somatic				DTYMK_uc010zpa.2_Missense_Mutation_p.H124N|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank	p.H148N	NM_012145	NP_036277	WXS	Illumina GAIIx	Phase_I	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	627	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	148					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.442C>A	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.848|0.848	-0.739486|-0.739486	0.03088|0.03088	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000305784|ENST00000445261	D|.	0.93712|.	-3.27|.	5.05|5.05	0.398|0.398	0.16319|0.16319	.|.	2.235980|.	0.01400|.	N|.	0.013568|.	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.00879|0.00879	-1.12|-1.12	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	0.35001|0.35001	-0.9806|-0.9806	10|5	0.17832|.	T|.	0.49|.	0.5628|0.5628	2.0592|2.0592	0.03588|0.03588	0.2377:0.0933:0.4507:0.2183|0.2377:0.0933:0.4507:0.2183	.|.	124;148|.	B7ZW70;P23919|.	.;KTHY_HUMAN|.	N|Q	148|105	ENSP00000304802:H148N|.	ENSP00000304802:H148N|.	H|P	-|-	1|2	0|0	DTYMK|DTYMK	242266626|242266626	0.003000|0.003000	0.15002|0.15002	0.019000|0.019000	0.16419|0.16419	0.006000|0.006000	0.05464|0.05464	0.202000|0.202000	0.17295|0.17295	0.243000|0.243000	0.21327|0.21327	-0.136000|-0.136000	0.14681|0.14681	CAT|CCA		0.577	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		33	45	0	0	0	1	0	33	45					T	242617953	G	T	242617953	3	4	86	1	0	0	0	0	1	0	0	0	4798	1348	47	4	204	4	DTYMK	2	242617953	Missense_Mutation	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08	187761225	242617953	581420	2	1540											
ENPEP	2028	broad.mit.edu	37	4	111434693	111434693	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr4:111434693A>G	ENST00000265162.5	+	7	1773	c.1431A>G	c.(1429-1431)atA>atG	p.I477M	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	477					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTGATGGAATATCCTATAGCA	0.353																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1429-1431)atA>atG		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						167	157	161					4																	111434693		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111434693A>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1431A>G	4.37:g.111434693A>G	ENSP00000265162:p.Ile477Met		Somatic					p.I477M	NM_001977	NP_001968	WXS	Illumina GAIIx	Phase_I	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	6	1773	+		Hepatocellular(203;0.217)	477					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1431A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240668	0.58995	.	.	ENSG00000138792	ENST00000265162	T	0.03441	3.93	5.29	-0.595	0.11660	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	H	0.98256	4.185	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.14643	-1.0465	10	0.87932	D	0	.	9.2904	0.37782	0.3843:0.4856:0.0:0.1301	.	477	Q07075	AMPE_HUMAN	M	477	ENSP00000265162:I477M	ENSP00000265162:I477M	I	+	3	3	ENPEP	111654142	0.972000	0.33761	0.991000	0.47740	0.888000	0.51559	0.215000	0.17562	-0.213000	0.10094	0.528000	0.53228	ATA		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			45	56	0	0	0	1	0	45	56					G	111434693	A	G	111434693	3	3	86	1	0	0	0	0	1	0	0	0	5128	439	16	3	1457	3	ENPEP	4	111434693	Missense_Mutation	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08		111434693	79719583	3	1541											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	47	0	0	0	1	0	35	47					T	140453136	A	T	140453136	3	4	86	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PU-01A-12D-A19J-08		140453136	18685527	4	1542											
RPS6KB2	6199	broad.mit.edu	37	11	67201890	67201890	+	Missense_Mutation	SNP	C	C	T	rs375350949		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr11:67201890C>T	ENST00000312629.5	+	13	1135	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	364	AGC-kinase C-terminal.				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)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCGCTTCACACGGCAGACGCC	0.642													C|||	1	0.000199681	0	0	5008	,	,		18829	0		0	False		,,,				2504	0.001					uc001old.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(1090-1092)Cgg>Tgg		Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.		C	TRP/ARG	0,4142		0,0,2071	37	42	40		1090	1.2	0.7	11		40	1,8391		0,1,4195	no	missense	RPS6KB2	NM_003952.2	101	0,1,6266	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	364/483	67201890	1,12533	2071	4196	6267	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201890C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1090C>T	11.37:g.67201890C>T	ENSP00000308413:p.Arg364Trp		Somatic				RPS6KB2_uc021qmi.1_Missense_Mutation_p.R87W	p.R364W	NM_003952	NP_003943	WXS	Illumina GAIIx	Phase_I	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1172	+			364			AGC-kinase C-terminal.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.1090C>T	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500606	0.44455	0.0	1.19E-4	ENSG00000175634	ENST00000312629	T	0.58210	0.35	4.5	1.24	0.21308	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.306061	0.23502	N	0.047488	T	0.71324	0.3326	M	0.88842	2.985	0.23464	N	0.997621	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.948	T	0.61530	-0.7044	10	0.72032	D	0.01	.	8.9786	0.35950	0.2834:0.636:0.0:0.0806	.	364;364	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	W	364	ENSP00000308413:R364W	ENSP00000308413:R364W	R	+	1	2	RPS6KB2	66958466	0.609000	0.26975	0.662000	0.29724	0.419000	0.31324	1.885000	0.39678	0.501000	0.28013	0.313000	0.20887	CGG		0.642	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		5	51	0	0	0	1	0	5	51					T	67201890	C	T	67201890	3	4	86	1	0	0	0	0	1	0	0	0	13657	527	19	1	1140	1	RPS6KB2	11	67201890	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		67201890	67804626	5	1543											
GLOD4	51031	broad.mit.edu	37	17	679033	679033	+	Missense_Mutation	SNP	G	G	A	rs529543488		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:679033G>A	ENST00000301328.5	-	5	456	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	GLOD4_ENST00000301329.6_Missense_Mutation_p.R130C|GLOD4_ENST00000536578.1_Missense_Mutation_p.R121C			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	145						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGCAGACTGCGATTCTGCAAA	0.483													G|||	1	0.000199681	0	0.0014	5008	,	,		17433	0		0	False		,,,				2504	0					uc002frv.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(433-435)Cgc>Tgc		Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.							86	84	85					17																	679033		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:679033G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.433C>T	17.37:g.679033G>A	ENSP00000301328:p.Arg145Cys		Somatic				GLOD4_uc002frt.3_Missense_Mutation_p.R74C|GLOD4_uc002fru.3_Missense_Mutation_p.R130C|GLOD4_uc010vqc.2_Missense_Mutation_p.R121C	p.R145C	NM_016080	NP_057164	WXS	Illumina GAIIx	Phase_I	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	509	-			145					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.433C>T		.	.	.	.	.	.	.	.	.	.	G	10.46	1.357764	0.24598	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.65916	-0.18;-0.18;-0.18	5.65	-5.23	0.02798	.	1.289890	0.04827	N	0.437987	T	0.47600	0.1454	L	0.49699	1.58	0.09310	N	0.99999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.33777	-0.9855	10	0.41790	T	0.15	1.446	1.0795	0.01640	0.3495:0.0901:0.2416:0.3188	.	121;145;130	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	C	130;333;145;121	ENSP00000301329:R130C;ENSP00000301328:R145C;ENSP00000444315:R121C	ENSP00000301328:R145C	R	-	1	0	GLOD4	625783	0.004000	0.15560	0.001000	0.08648	0.071000	0.16799	0.103000	0.15292	-0.419000	0.07439	-0.808000	0.03180	CGC		0.483	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		22	62	0	0	0	1	0	22	62					A	679033	G	A	679033	3	1	86	1	0	0	0	0	1	0	0	0	6450	1058	37	1	532	1	GLOD4	17	679033	Missense_Mutation	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08		679033	80516177	6	1544											
UBE2O	63893	broad.mit.edu	37	17	74392381	74392381	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:74392381C>T	ENST00000319380.7	-	14	2701	c.2637G>A	c.(2635-2637)atG>atA	p.M879I	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	879					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCACTGCTTCCATCTTCTCCT	0.562																																						uc002jrm.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2635-2637)atG>atA		Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.							167	170	169					17																	74392381		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392381C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2637G>A	17.37:g.74392381C>T	ENSP00000323687:p.Met879Ile		Somatic				UBE2O_uc002jrn.4_Missense_Mutation_p.M879I|UBE2O_uc002jrl.4_Missense_Mutation_p.M483I	p.M879I	NM_022066	NP_071349	WXS	Illumina GAIIx	Phase_I	Q9C0C9	UBE2O_HUMAN			13	2702	-			879					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2637G>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950186	0.34377	.	.	ENSG00000175931	ENST00000319380	T	0.75367	-0.93	5.03	5.03	0.67393	.	0.096367	0.64402	D	0.000002	T	0.63082	0.2481	N	0.24115	0.695	0.58432	D	0.999996	P	0.47409	0.895	B	0.41236	0.351	T	0.62296	-0.6884	10	0.21014	T	0.42	-36.3148	18.3805	0.90449	0.0:1.0:0.0:0.0	.	879	Q9C0C9	UBE2O_HUMAN	I	879	ENSP00000323687:M879I	ENSP00000323687:M879I	M	-	3	0	UBE2O	71903976	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	7.570000	0.82390	2.325000	0.78763	0.563000	0.77884	ATG		0.562	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		15	190	0	0	0	1	0	15	190					T	74392381	C	T	74392381	3	4	86	1	0	0	0	0	1	0	0	0	16865	594	21	2	1261	2	UBE2O	17	74392381	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08	73713348	74392381	6802829	7	1545											
SMARCA4	6597	broad.mit.edu	37	19	11132573	11132573	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr19:11132573C>T	ENST00000429416.3	+	20	3070	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	SMARCA4_ENST00000589677.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P930L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P930L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	930	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.?(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)				TTCCTGCTGCCCACCATCTTC	0.612			"F, N, Mis"		NSCLC																																	uc010dxo.3				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	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.(2788-2790)cCc>cTc		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 1, mRNA.							94	75	81					19																	11132573		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|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	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132573C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	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"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2789C>T	19.37:g.11132573C>T	ENSP00000395654:p.Pro930Leu		Somatic				SMARCA4_uc010dxp.3_Missense_Mutation_p.P930L|SMARCA4_uc002mqf.4_Missense_Mutation_p.P930L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P930L|SMARCA4_uc010dxq.3_Missense_Mutation_p.P930L|SMARCA4_uc010dxr.3_Missense_Mutation_p.P930L|SMARCA4_uc002mqj.4_Missense_Mutation_p.P930L|SMARCA4_uc010dxs.3_Missense_Mutation_p.P930L|SMARCA4_uc010dxt.1_Missense_Mutation_p.P150L|SMARCA4_uc002mqh.4_Missense_Mutation_p.P53L|SMARCA4_uc002mqi.1_Missense_Mutation_p.P133L	p.P930L	NM_001128849	NP_001122321	WXS	Illumina GAIIx	Phase_I	P51532	SMCA4_HUMAN			18	3073	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	930			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2789C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934913	0.92458	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	H	0.94542	3.55	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99208	1.0875	10	0.87932	D	0	-34.3638	16.1519	0.81629	0.0:1.0:0.0:0.0	.	930;930;930;930;930;150;930;930	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	930;930;994;930;930;930;930;930	ENSP00000395654:P930L;ENSP00000350720:P930L;ENSP00000343896:P930L;ENSP00000445036:P930L;ENSP00000392837:P930L;ENSP00000397783:P930L;ENSP00000414727:P930L	ENSP00000343896:P930L	P	+	2	0	SMARCA4	10993573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	CCC		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	46	0	0	0	1	0	3	46					T	11132573	C	T	11132573	3	4	86	1	0	0	0	0	1	0	0	0	14770	623	22	2	2859	2	SMARCA4	19	11132573	Missense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08		11132573	47996410	8	1546											
PLAC1	10761	broad.mit.edu	37	X	133700185	133700185	+	Silent	SNP	G	G	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:133700185G>T	ENST00000359237.4	-	3	813	c.528C>A	c.(526-528)gtC>gtA	p.V176V	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGTGACAAGGGACCTGGGTAT	0.488																																						uc004exo.1																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(526-528)gtC>gtA		Homo sapiens placenta-specific 1 (PLAC1), mRNA.							153	125	134					X																	133700185		2203	4300	6503	SO:0001819	synonymous_variant	10761				placenta development	extracellular region		g.chrX:133700185G>T	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.528C>A	X.37:g.133700185G>T			Somatic				PLAC1_uc004exp.1_Silent_p.V176V|PLAC1_uc022cei.1_Silent_p.V176V	p.V176V	NM_021796	NP_068568	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			2	814	-	Acute lymphoblastic leukemia(192;0.000127)		176						Silent	SNP	ENST00000359237.4	37	c.528C>A	CCDS14642.1																																																																																				0.488	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		5	95	0	0	0	1	0	5	95					T	133700185	G	T	133700185	2	4	86	1	0	0	0	0	0	0	0	1	12012	1161	41	4		4	PLAC1	23	133700185	Silent	SNP	G	TCGA-DJ-A2PU-01A-12D-A19J-08		133700185	21570375	9	1547											
ABCD1	215	broad.mit.edu	37	X	153001964	153001964	+	Nonsense_Mutation	SNP	C	C	T	rs128624221		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:153001964C>T	ENST00000218104.3	+	4	1789	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	464					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)					CCTGAAGATCCGAGGTAAGGC	0.657																																						uc004fif.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	GRCh37	CM940032	ABCD1	M	rs128624221	c.(1390-1392)Cga>Tga		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.							56	57	57					X																	153001964		2203	4300	6503	SO:0001587	stop_gained	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:153001964C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1390C>T	X.37:g.153001964C>T	ENSP00000218104:p.Arg464*		Somatic					p.R464*	NM_000033	NP_000024	WXS	Illumina GAIIx	Phase_I	P33897	ABCD1_HUMAN			3	1789	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		464					Q6GTZ2	Nonsense_Mutation	SNP	ENST00000218104.3	37	c.1390C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195624	0.38806	.	.	ENSG00000101986	ENST00000218104	.	.	.	4.71	2.59	0.31030	.	1.036020	0.07729	N	0.944931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1432	10.1308	0.42678	0.6226:0.3774:0.0:0.0	.	.	.	.	X	464	.	ENSP00000218104:R464X	R	+	1	2	ABCD1	152655158	0.071000	0.21146	0.858000	0.33744	0.029000	0.11900	2.308000	0.43690	0.914000	0.36822	-0.260000	0.10688	CGA		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	20	0	0	0	1	0	3	20					T	153001964	C	T	153001964	4	4	86	1	0	0	0	0	0	1	0	0	60	644	23	1	1404	1	ABCD1	23	153001964	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PU-01A-12D-A19J-08	19301779	153001964	2268596	10	1548											
HEATR1	55127	broad.mit.edu	37	1	236719122	236719122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr1:236719122G>A	ENST00000366582.3	-	39	5746	c.5632C>T	c.(5632-5634)Cga>Tga	p.R1878*	HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R1797*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1878					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTGGGCTCGGAAGTCCAGG	0.493																																						uc001hyd.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5632-5634)Cga>Tga		Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.							119	114	116					1																	236719122		2203	4300	6503	SO:0001587	stop_gained	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236719122G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5632C>T	1.37:g.236719122G>A	ENSP00000355541:p.Arg1878*		Somatic				HEATR1_uc009xgh.2_Nonsense_Mutation_p.R1040*	p.R1878*	NM_018072	NP_060542	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		38	5784	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1878					Q5T3Q8|Q6P197|Q9NW23	Nonsense_Mutation	SNP	ENST00000366582.3	37	c.5632C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	45	11.525005	0.99572	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	4.93	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6304	0.56655	0.0:0.0:0.6405:0.3594	.	.	.	.	X	1878;1797	.	ENSP00000355540:R1797X	R	-	1	2	HEATR1	234785745	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.865000	0.39479	1.223000	0.43536	0.455000	0.32223	CGA		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		40	86	0	0	0	1	0	40	86					A	236719122	G	A	236719122	4	1	87	1	0	0	0	0	0	1	0	0	7027	1124	39	1	830	1	HEATR1	1	236719122	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PV-01A-11D-A19J-08		236719122	12531499	1	1549											
APOB	338	broad.mit.edu	37	2	21236165	21236165	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr2:21236165A>T	ENST00000233242.1	-	25	4210	c.4083T>A	c.(4081-4083)aaT>aaA	p.N1361K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1361					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.N1361N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTAGACATTCGTGGAGA	0.512																																						uc002red.3																			1	Substitution - coding silent(1)	p.N1361N(2)	lung(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4081-4083)aaT>aaA		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						208	189	195					2																	21236165		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236165A>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4083T>A	2.37:g.21236165A>T	ENSP00000233242:p.Asn1361Lys		Somatic					p.N1361K	NM_000384	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			24	4211	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4083T>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	8.219	0.802122	0.16397	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00659	5.94	5.17	2.27	0.28462	.	0.266347	0.32244	N	0.006366	T	0.00815	0.0027	L	0.46741	1.465	0.37010	D	0.895683	B	0.28605	0.217	B	0.24701	0.055	T	0.60419	-0.7267	10	0.19147	T	0.46	.	8.1285	0.31014	0.676:0.0:0.324:0.0	.	1361	P04114	APOB_HUMAN	K	1361	ENSP00000233242:N1361K	ENSP00000233242:N1361K	N	-	3	2	APOB	21089670	0.103000	0.21917	0.488000	0.27440	0.317000	0.28152	0.678000	0.25277	0.786000	0.33708	0.455000	0.32223	AAT		0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			46	102	0	0	0	1	0	46	102					T	21236165	A	T	21236165	3	4	87	1	0	0	0	0	1	0	0	0	785	214	8	5	9628	5	APOB	2	21236165	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		21236165	221963208	2	1550											
PARP8	79668	broad.mit.edu	37	5	50091188	50091188	+	Silent	SNP	C	C	G			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr5:50091188C>G	ENST00000281631.5	+	12	1523	c.1365C>G	c.(1363-1365)ctC>ctG	p.L455L	PARP8_ENST00000514067.2_Silent_p.L455L|PARP8_ENST00000505697.2_Silent_p.L455L|PARP8_ENST00000503750.2_Silent_p.L455L|PARP8_ENST00000514342.2_Silent_p.L208L|PARP8_ENST00000505554.1_Silent_p.L434L|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	455						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAGGAGGCTCTCTCTTACCT	0.433																																						uc003jon.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1363-1365)ctC>ctG		Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.							77	80	79					5																	50091188		2203	4300	6503	SO:0001819	synonymous_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091188C>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1365C>G	5.37:g.50091188C>G			Somatic				PARP8_uc011cpz.2_Silent_p.L347L|PARP8_uc003joo.3_Silent_p.L455L|PARP8_uc003jop.3_Silent_p.L455L	p.L455L	NM_001178055	NP_078891	WXS	Illumina GAIIx	Phase_I	Q8N3A8	PARP8_HUMAN			12	1547	+		Lung NSC(810;0.0305)|Breast(144;0.222)	455					Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.1365C>G	CCDS3954.1																																																																																				0.433	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		4	60	0	0	0	1	0	4	60					G	50091188	C	G	50091188	2	3	87	1	0	0	0	0	0	0	0	1	11465	900	32	4		4	PARP8	5	50091188	Silent	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		50091188	130824072	3	1551											
RIOK1	83732	broad.mit.edu	37	6	7404673	7404673	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr6:7404673G>A	ENST00000379834.2	+	10	1384	c.877G>A	c.(877-879)Gtc>Atc	p.V293I		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	293	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTGAAAAATGTCCAGTTATC	0.418																																						uc003mxn.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(877-879)Gtc>Atc		Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.							136	132	133					6																	7404673		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7404673G>A	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.877G>A	6.37:g.7404673G>A	ENSP00000369162:p.Val293Ile		Somatic				RIOK1_uc003mxo.3_Missense_Mutation_p.V52I	p.V293I	NM_031480	NP_694550	WXS	Illumina GAIIx	Phase_I	Q9BRS2	RIOK1_HUMAN			9	1051	+	Ovarian(93;0.0418)		293			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.877G>A	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770689	0.31320	.	.	ENSG00000124784	ENST00000379834	T	0.07688	3.17	5.3	2.39	0.29439	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.210364	0.48767	N	0.000166	T	0.03915	0.0110	M	0.69248	2.105	0.30336	N	0.786182	B	0.15719	0.014	B	0.20577	0.03	T	0.26883	-1.0090	10	0.48119	T	0.1	-10.4887	9.5789	0.39475	0.2432:0.0:0.7568:0.0	.	293	Q9BRS2	RIOK1_HUMAN	I	293	ENSP00000369162:V293I	ENSP00000369162:V293I	V	+	1	0	RIOK1	7349672	0.997000	0.39634	0.359000	0.25824	0.476000	0.33039	3.782000	0.55401	0.247000	0.21414	-0.812000	0.03155	GTC		0.418	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		11	104	0	0	0	1	0	11	104					A	7404673	G	A	7404673	3	1	87	1	0	0	0	0	1	0	0	0	13377	1377	48	2	915	2	RIOK1	6	7404673	Missense_Mutation	SNP	G	TCGA-DJ-A2PV-01A-11D-A19J-08		7404673	163710394	4	1552											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	47	0	0	0	1	0	22	47					T	140453136	A	T	140453136	3	4	87	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		140453136	18685527	5	1553											
CD163	9332	broad.mit.edu	37	12	7640177	7640177	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr12:7640177A>G	ENST00000359156.4	-	8	2030	c.1828T>C	c.(1828-1830)Tct>Cct	p.S610P	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.S610P|CD163_ENST00000541972.1_Missense_Mutation_p.S598P|CD163_ENST00000396620.3_Missense_Mutation_p.S643P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	610	SRCR 6. {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)	TCCCAGTGAGAGTTACAGAGG	0.517																																						uc001qsz.3																			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.(1828-1830)Tct>Cct		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							107	101	103					12																	7640177		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640177A>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1828T>C	12.37:g.7640177A>G	ENSP00000352071:p.Ser610Pro		Somatic				CD163_uc001qta.3_Missense_Mutation_p.S610P|CD163_uc009zfw.2_Missense_Mutation_p.S643P	p.S610P	NM_004244	NP_004235	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			7	1956	-			610			SRCR 6.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1828T>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514364	0.64522	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.21	3.99	0.46301	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.077004	0.56097	D	0.000032	T	0.52725	0.1752	M	0.78049	2.395	0.31147	N	0.705914	D;D;D	0.89917	1.0;0.986;1.0	D;P;D	0.79784	0.993;0.656;0.989	T	0.59289	-0.7482	10	0.62326	D	0.03	.	10.1968	0.43060	0.8332:0.1668:0.0:0.0	.	643;610;610	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	P	610;598;643;610	ENSP00000352071:S610P;ENSP00000444071:S598P;ENSP00000379863:S643P;ENSP00000403885:S610P	ENSP00000352071:S610P	S	-	1	0	CD163	7531444	0.000000	0.05858	0.998000	0.56505	0.981000	0.71138	0.224000	0.17738	2.094000	0.63399	0.533000	0.62120	TCT		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		9	91	0	0	0	1	0	9	91					G	7640177	A	G	7640177	3	3	87	1	0	0	0	0	1	0	0	0	2967	304	11	3	1678	3	CD163	12	7640177	Missense_Mutation	SNP	A	TCGA-DJ-A2PV-01A-11D-A19J-08		7640177	126211718	6	1554											
GATC	8683	broad.mit.edu	37	12	120897756	120897756	+	IGR	SNP	C	C	T			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr12:120897756C>T	ENST00000229390.3	-	0	1201				AL021546.6_ENST00000551806.1_Nonsense_Mutation_p.Q167*|GATC_ENST00000551765.1_Silent_p.H135H	NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H135Q(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						CATTCCCACACAGCTGAGTAG	0.353																																						uc010szi.2																			1	Substitution - Missense(1)	p.H135Q(2)	breast(1)	breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.(403-405)caC>caT		Homo sapiens glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) (GATC), transcript variant 1, mRNA.							91	86	88					12																	120897756		2203	4300	6503	SO:0001628	intergenic_variant	283459				regulation of translational fidelity			g.chr12:120897756C>T	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10791	protein-coding gene	gene with protein product	"SR splicing factor 9"	601943	"splicing factor, arginine/serine-rich 9"	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790		12.37:g.120897756C>T			Somatic				GATC_uc021rev.1_Non-coding_Transcript	p.H135H	NM_176818	NP_789788	WXS	Illumina GAIIx	Phase_I	O43716	GATCL_HUMAN			3	448	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		135					Q52LD1	Silent	SNP	ENST00000229390.3	37	c.405C>T	CCDS9199.1	.	.	.	.	.	.	.	.	.	.	C	9.283	1.048625	0.19827	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.11	-6.63	0.01807	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2726	2.8876	0.05665	0.1134:0.1562:0.2239:0.5065	.	.	.	.	X	167	.	.	Q	+	1	0	GATC	119382139	0.000000	0.05858	0.000000	0.03702	0.626000	0.37791	-2.236000	0.01201	-1.098000	0.03038	0.655000	0.94253	CAG		0.353	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2	NM_003769		9	33	0	0	0	1	0	9	33					T	120897756	C	T	120897756	1	4	87	0	1	0	0	0	0	0	0	0	6262	477	17	2		2	GATC	12	120897756	IGR	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08	113257579	120897756	12954139	7	1555											
ANP32A	8125	broad.mit.edu	37	15	69072764	69072764	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr15:69072764C>T	ENST00000465139.2	-	6	816	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ANP32A_ENST00000560303.1_3'UTR|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	225	Asp/Glu-rich (highly acidic).|Interaction with E4F1. {ECO:0000250}.				gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						AGCTCTTCTTCATCTTCCTCG	0.498																																						uc002arl.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(673-675)Gaa>Aaa		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA.							133	135	134					15																	69072764		2200	4298	6498	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69072764C>T	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"ANP32 acidic nuclear phosphoproteins"	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.673G>A	15.37:g.69072764C>T	ENSP00000417864:p.Glu225Lys		Somatic					p.E225K	NM_006305	NP_006296	WXS	Illumina GAIIx	Phase_I	P39687	AN32A_HUMAN			5	844	-			225			Asp/Glu-rich (highly acidic).|Interaction with E4F1 (By similarity).		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.673G>A	CCDS45292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.285280|4.285280	0.80803|0.80803	.|.	.|.	ENSG00000140350|ENSG00000140350	ENST00000358235|ENST00000465139	.|T	.|0.36340	.|1.26	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.172360	.|0.52532	.|D	.|0.000064	.|T	.|0.40886	.|0.1135	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|P	.|0.40970	.|0.734	.|B	.|0.34652	.|0.187	.|T	.|0.49123	.|-0.8972	.|10	.|0.52906	.|T	.|0.07	.|.	16.5477|16.5477	0.84451|0.84451	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|225	.|P39687	.|AN32A_HUMAN	.|K	-1|225	.|ENSP00000417864:E225K	.|ENSP00000417864:E225K	.|E	-|-	.|1	.|0	ANP32A|ANP32A	66859818|66859818	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.983000|0.983000	0.72400|0.72400	5.887000|5.887000	0.69751|0.69751	2.518000|2.518000	0.84900|0.84900	0.555000|0.555000	0.69702|0.69702	.|GAA		0.498	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			6	41	0	0	0	1	0	6	41					T	69072764	C	T	69072764	3	4	87	1	0	0	0	0	1	0	0	0	705	835	29	2	84	2	ANP32A	15	69072764	Missense_Mutation	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		69072764	33458628	8	1556											
RALGAPA2	57186	broad.mit.edu	37	20	20582429	20582429	+	Silent	SNP	C	C	T			TCGA-DJ-A2PV-01A-11D-A19J-08	TCGA-DJ-A2PV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47e34bfc-1871-4943-833f-60894efc3112	40a0e16b-e1e8-4ccc-b56f-73603a392548	g.chr20:20582429C>T	ENST00000202677.7	-	16	2107	c.2100G>A	c.(2098-2100)cgG>cgA	p.R700R	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	700					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGGGTGGCTCCGCCAGCTGA	0.488																																						uc002wrz.3																			0		p.R700R(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(2098-2100)cgG>cgA		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							44	44	44					20																	20582429		1890	4120	6010	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	g.chr20:20582429C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2100G>A	20.37:g.20582429C>T			Somatic				RALGAPA2_uc002wry.3_Silent_p.R315R|RALGAPA2_uc010zsg.2_Silent_p.R101R	p.R700R	NM_020343	NP_065076	WXS	Illumina GAIIx	Phase_I	Q2PPJ7	RGPA2_HUMAN			15	2243	-			700					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.2100G>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466631	0.26335	.	.	ENSG00000188559	ENST00000430436	.	.	.	4.99	0.0748	0.14396	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	1.1683	0.01820	0.1685:0.394:0.1673:0.2703	.	.	.	.	E	517	.	.	G	-	2	0	RALGAPA2	20530429	0.985000	0.35326	1.000000	0.80357	0.990000	0.78478	0.199000	0.17237	0.212000	0.20703	0.655000	0.94253	GGA		0.488	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		4	26	0	0	0	1	0	4	26					T	20582429	C	T	20582429	2	4	87	1	0	0	0	0	0	0	0	1	13014	842	30	2		2	RALGAPA2	20	20582429	Silent	SNP	C	TCGA-DJ-A2PV-01A-11D-A19J-08		20582429	42443091	9	1557											
FHL3	2275	broad.mit.edu	37	1	38465013	38465013	+	Silent	SNP	G	G	A			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr1:38465013G>A	ENST00000373016.3	-	2	240	c.72C>T	c.(70-72)agC>agT	p.S24S	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	24					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTAGGGGCCGCTGTCTGTCT	0.547																																						uc001cck.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(70-72)agC>agT		Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.							110	97	102					1																	38465013		2203	4300	6503	SO:0001819	synonymous_variant	2275				muscle organ development		zinc ion binding	g.chr1:38465013G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.72C>T	1.37:g.38465013G>A			Somatic				FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.S24S	p.S24S	NM_004468	NP_004459	WXS	Illumina GAIIx	Phase_I	Q13643	FHL3_HUMAN			1	251	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	24					D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	ENST00000373016.3	37	c.72C>T	CCDS30678.1																																																																																				0.547	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		7	49	0	0	0	1	0	7	49					A	38465013	G	A	38465013	2	1	88	1	0	0	0	0	0	0	0	1	5880	1078	38	1		1	FHL3	1	38465013	Silent	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		38465013	210785608	1	1558											
AKR1A1	10327	broad.mit.edu	37	1	46032687	46032687	+	Silent	SNP	C	C	G			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr1:46032687C>G	ENST00000372070.3	+	5	1098	c.351C>G	c.(349-351)gcC>gcG	p.A117A	AKR1A1_ENST00000351829.4_Silent_p.A117A|AKR1A1_ENST00000471651.1_Silent_p.A117A	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	117					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	GGCCTTATGCCTTTGAGTGAG	0.557																																						uc021omx.1																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(349-351)gcC>gcG		Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.							115	100	105					1																	46032687		2203	4300	6503	SO:0001819	synonymous_variant	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46032687C>G	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.351C>G	1.37:g.46032687C>G			Somatic				AKR1A1_uc009vxw.3_Silent_p.A117A|AKR1A1_uc021omy.1_Silent_p.A117A|AKR1A1_uc001cod.3_Silent_p.A117A|AKR1A1_uc001coe.3_Silent_p.A117A|AKR1A1_uc001cof.3_5'Flank	p.A117A	NM_001202414	NP_001189343	WXS	Illumina GAIIx	Phase_I	P14550	AK1A1_HUMAN			5	769	+	Acute lymphoblastic leukemia(166;0.155)		117					A8KAL8|D3DQ04|Q6IAZ4	Silent	SNP	ENST00000372070.3	37	c.351C>G	CCDS523.1																																																																																				0.557	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		3	50	0	0	0	1	0	3	50					G	46032687	C	G	46032687	2	3	88	1	0	0	0	0	0	0	0	1	465	668	24	4		4	AKR1A1	1	46032687	Silent	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	7567674	46032687	203217934	2	1559											
LRRN1	57633	broad.mit.edu	37	3	3887996	3887996	+	Silent	SNP	G	G	A			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr3:3887996G>A	ENST00000319331.3	+	2	2432	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443																																						uc003bpt.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1669-1671)tcG>tcA		Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.							202	205	204					3																	3887996		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887996G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1671G>A	3.37:g.3887996G>A			Somatic				SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.S557S	p.S557S	NM_020873	NP_065924	WXS	Illumina GAIIx	Phase_I	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	1	2432	+			557			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1671G>A	CCDS33685.1																																																																																				0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		32	163	0	0	0	1	0	32	163					A	3887996	G	A	3887996	2	1	88	1	0	0	0	0	0	0	0	1	9034	1132	40	1		1	LRRN1	3	3887996	Silent	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		3887996	194134434	3	1560											
ZNF621	285268	broad.mit.edu	37	3	40573621	40573621	+	Missense_Mutation	SNP	C	C	G	rs189638815		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr3:40573621C>G	ENST00000339296.5	+	5	812	c.360C>G	c.(358-360)aaC>aaG	p.N120K	ZNF621_ENST00000431278.1_Missense_Mutation_p.N9K|ZNF621_ENST00000403205.2_Missense_Mutation_p.N120K|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Missense_Mutation_p.N120K	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	120					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(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TTCTCAGGAACGTTTCTCAGC	0.413																																						uc003ckm.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(358-360)aaC>aaG		Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.							82	87	85					3																	40573621		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40573621C>G	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"Zinc fingers, C2H2-type", "-"	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.360C>G	3.37:g.40573621C>G	ENSP00000340841:p.Asn120Lys		Somatic				ZNF621_uc003ckn.2_Missense_Mutation_p.N120K|ZNF621_uc003cko.2_Missense_Mutation_p.N85K|ZNF621_uc011aze.1_Missense_Mutation_p.N112K	p.N120K	NM_001098414	NP_940886	WXS	Illumina GAIIx	Phase_I	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	4	576	+			120					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.360C>G	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	12.11	1.840609	0.32513	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000431278;ENST00000453351	T;T;T;T;T	0.07567	3.36;5.44;3.36;3.18;5.47	3.73	-5.9	0.02275	.	0.996321	0.08128	N	0.993716	T	0.05731	0.0150	L	0.40543	1.245	0.09310	N	1	P;B;B	0.49447	0.924;0.319;0.319	B;B;B	0.35312	0.2;0.062;0.062	T	0.17592	-1.0364	10	0.18710	T	0.47	.	13.8617	0.63564	0.0:0.1742:0.0:0.8258	.	120;9;120	C9JM43;C9JZC2;Q6ZSS3	.;.;ZN621_HUMAN	K	120;120;120;9;120	ENSP00000386051:N120K;ENSP00000312144:N120K;ENSP00000340841:N120K;ENSP00000413236:N9K;ENSP00000408779:N120K	ENSP00000312144:N120K	N	+	3	2	ZNF621	40548625	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.314000	0.00516	-1.606000	0.01591	-0.880000	0.02959	AAC		0.413	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		9	74	0	0	0	1	0	9	74					G	40573621	C	G	40573621	3	3	88	1	0	0	0	0	1	0	0	0	18042	535	19	4	374	4	ZNF621	3	40573621	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	36685625	40573621	157448809	4	1561											
PPAT	5471	broad.mit.edu	37	4	57301543	57301543	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr4:57301543G>A	ENST00000264220.2	-	1	238	c.101C>T	c.(100-102)aCt>aTt	p.T34I	PAICS_ENST00000512576.1_5'Flank|PAICS_ENST00000514888.1_5'Flank|PAICS_ENST00000264221.2_5'Flank|PAICS_ENST00000399688.3_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	34	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GAGTCCCAGAGTGATCACATG	0.652																																						uc003hbr.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(100-102)aCt>aTt		Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	L-Glutamine(DB00130)|Thioguanine(DB00352)						77	75	76					4																	57301543		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57301543G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.101C>T	4.37:g.57301543G>A	ENSP00000264220:p.Thr34Ile		Somatic				PAICS_uc003hbs.1_5'Flank|PAICS_uc011cac.1_5'Flank|PAICS_uc003hbt.1_5'Flank|PAICS_uc003hbu.1_5'Flank|PAICS_uc010ihd.1_5'Flank	p.T34I	NM_002703	NP_002694	WXS	Illumina GAIIx	Phase_I	Q06203	PUR1_HUMAN			0	260	-	Glioma(25;0.08)|all_neural(26;0.101)		34			Glutamine amidotransferase type-2.			Missense_Mutation	SNP	ENST00000264220.2	37	c.101C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900501	0.92035	.	.	ENSG00000128059	ENST00000264220	T	0.62941	-0.01	5.14	4.28	0.50868	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.046170	0.85682	D	0.000000	T	0.47060	0.1425	N	0.16130	0.375	0.58432	D	0.999999	B	0.06786	0.001	B	0.14023	0.01	T	0.44620	-0.9316	10	0.66056	D	0.02	-6.1192	14.942	0.71000	0.0:0.0:0.856:0.144	.	34	Q06203	PUR1_HUMAN	I	34	ENSP00000264220:T34I	ENSP00000264220:T34I	T	-	2	0	PPAT	56996300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.904000	0.75708	1.356000	0.45884	0.561000	0.74099	ACT		0.652	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		18	83	0	0	0	1	0	18	83					A	57301543	G	A	57301543	3	1	88	1	0	0	0	0	1	0	0	0	12302	1029	36	2	1496	2	PPAT	4	57301543	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		57301543	133852733	5	1562											
ANP32C	55016	broad.mit.edu	37	4	165118482	165118482	+	Intron	SNP	C	C	G			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr4:165118482C>G	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G128*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACGTTTTCTCCGTAGTCGTTC	0.458																																						uc011cjk.2																			1	Substitution - Nonsense(1)	p.G128*(2)|p.G128E(1)	lung(1)	NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35						c.(382-384)Gga>Cga		Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.							162	154	156					4																	165118482		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118482C>G	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85668G>C	4.37:g.165118482C>G			Somatic				MARCH1_uc003iqs.2_Intron	p.G128R	NM_012403	NP_036535	WXS	Illumina GAIIx	Phase_I	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	0	382	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	128					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.382G>C	CCDS54814.1																																																																																				0.458	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		30	103	0	0	0	1	0	30	103					G	165118482	C	G	165118482	1	3	88	0	1	0	0	0	0	0	0	0	707	661	23	4		4	ANP32C	4	165118482	Intron	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	107816939	165118482	26035794	6	1563											
PEX7	5191	broad.mit.edu	37	6	137147485	137147485	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr6:137147485G>A	ENST00000318471.4	+	3	298	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	PEX7_ENST00000541292.1_Missense_Mutation_p.V73M|PEX7_ENST00000367756.4_Missense_Mutation_p.V73M	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	73					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTTGTTTGATGTGACTTGGAG	0.438																																						uc003qhd.3																			0				lung(7)|prostate(1)	8						c.(217-219)Gtg>Atg		Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.							197	173	181					6																	137147485		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137147485G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.217G>A	6.37:g.137147485G>A	ENSP00000315680:p.Val73Met		Somatic				PEX7_uc010kgx.3_Non-coding_Transcript	p.V73M	NM_000288	NP_000279	WXS	Illumina GAIIx	Phase_I	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	2	319	+	Colorectal(23;0.24)		73					C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.217G>A	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070857	0.93950	.	.	ENSG00000112357	ENST00000367756;ENST00000541292;ENST00000318471	D;T;T	0.94497	-3.44;-0.16;-0.16	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97195	0.9083	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97406	0.9999	10	0.72032	D	0.01	-27.8536	19.4383	0.94807	0.0:0.0:1.0:0.0	.	73	O00628	PEX7_HUMAN	M	73	ENSP00000356730:V73M;ENSP00000441004:V73M;ENSP00000315680:V73M	ENSP00000315680:V73M	V	+	1	0	PEX7	137189178	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	8.961000	0.93122	2.589000	0.87451	0.655000	0.94253	GTG		0.438	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		17	149	0	0	0	1	0	17	149					A	137147485	G	A	137147485	3	1	88	1	0	0	0	0	1	0	0	0	11751	1377	48	2	227	2	PEX7	6	137147485	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		137147485	33967582	7	1564											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	35	0	0	0	1	0	33	35					T	140453136	A	T	140453136	3	4	88	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		140453136	18685527	8	1565											
MLL3	58508	broad.mit.edu	37	7	151859891	151859891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr7:151859891G>A	ENST00000262189.6	-	43	10989	c.10771C>T	c.(10771-10773)Cag>Tag	p.Q3591*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3591*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3591					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)										GAATACAACTGAATGAGCGAT	0.433																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(10771-10773)Cag>Tag		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							70	67	68					7																	151859891		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151859891G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10771C>T	7.37:g.151859891G>A	ENSP00000262189:p.Gln3591*		Somatic				MLL3_uc003wkz.3_Nonsense_Mutation_p.Q2652*|MLL3_uc003wky.3_Nonsense_Mutation_p.Q1100*	p.Q3591*	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	42	10990	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3591					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.10771C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	21.227398|21.227398	0.99938|0.99938	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.44285|.	D|.	0.000477|.	.|T	.|0.75436	.|0.3849	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73544	.|-0.3949	.|4	0.66056|.	D|.	0.02|.	.|.	19.451|19.451	0.94867|0.94867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	3591;3591;177|1096	.|.	ENSP00000262189:Q3591X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151490824|151490824	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	9.467000|9.467000	0.97671|0.97671	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	52	0	0	0	1	0	5	52					A	151859891	G	A	151859891	4	1	88	1	0	0	0	0	0	1	0	0	9622	1299	45	2	4032	2	MLL3	7	151859891	Nonsense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08	11406755	151859891	7278772	9	1566											
GPR124	25960	broad.mit.edu	37	8	37693223	37693223	+	Missense_Mutation	SNP	G	G	A	rs576854487		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:37693223G>A	ENST00000412232.2	+	13	1998	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	662					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)			AACACCTCCCGCCCTGGAGCT	0.682													G|||	1	0.000199681	0	0	5008	,	,		12725	0		0.001	False		,,,				2504	0					uc003xkj.3																			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.(1984-1986)cGc>cAc		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.							48	54	52					8																	37693223		2201	4299	6500	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.chr8:37693223G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1985G>A	8.37:g.37693223G>A	ENSP00000406367:p.Arg662His		Somatic				GPR124_uc010lvy.3_Intron	p.R662H	NM_032777	NP_116166	WXS	Illumina GAIIx	Phase_I	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	2371	+			662					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1985G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	6.429	0.447309	0.12223	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.58358	0.34	5.29	5.29	0.74685	.	0.126543	0.50627	D	0.000105	T	0.34745	0.0908	L	0.28274	0.84	0.45035	D	0.998054	B	0.27450	0.179	B	0.15052	0.012	T	0.16424	-1.0403	10	0.23891	T	0.37	-32.2337	9.6335	0.39793	0.1552:0.0:0.8448:0.0	.	662	Q96PE1	GP124_HUMAN	H	655;662	ENSP00000406367:R662H	ENSP00000406367:R662H	R	+	2	0	GPR124	37812381	0.699000	0.27786	0.981000	0.43875	0.044000	0.14063	1.904000	0.39868	2.497000	0.84241	0.655000	0.94253	CGC		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			9	82	0	0	0	1	0	9	82					A	37693223	G	A	37693223	3	1	88	1	0	0	0	0	1	0	0	0	6638	1087	38	1	2014	1	GPR124	8	37693223	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		37693223	108670799	10	1567											
HOOK3	84376	broad.mit.edu	37	8	42819533	42819533	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:42819533C>G	ENST00000307602.4	+	9	895	c.695C>G	c.(694-696)tCt>tGt	p.S232C		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	232					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAATCTGATTCTATAGAAGAC	0.413			T	RET	papillary thyroid																																	uc003xpr.3				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(694-696)tCt>tGt		Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.							109	106	107					8																	42819533		2203	4300	6503	SO:0001583	missense	84376				Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42819533C>G	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.695C>G	8.37:g.42819533C>G	ENSP00000305699:p.Ser232Cys		Somatic				HOOK3_uc010lxq.1_Missense_Mutation_p.S232C	p.S232C	NM_032410	NP_115786	WXS	Illumina GAIIx	Phase_I	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		8	937	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	232					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.695C>G	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799121	0.90538	.	.	ENSG00000168172	ENST00000307602	T	0.20881	2.04	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.77557	0.986;0.99	T	0.23332	-1.0191	10	0.66056	D	0.02	-7.4486	20.4084	0.99013	0.0:1.0:0.0:0.0	.	232;232	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	C	232	ENSP00000305699:S232C	ENSP00000305699:S232C	S	+	2	0	HOOK3	42938690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.436000	0.80404	2.833000	0.97629	0.650000	0.86243	TCT		0.413	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		34	34	0	0	0	1	0	34	34					G	42819533	C	G	42819533	3	3	88	1	0	0	0	0	1	0	0	0	7284	913	32	4	729	4	HOOK3	8	42819533	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	5126310	42819533	103544489	11	1568											
CSMD3	114788	broad.mit.edu	37	8	113418891	113418891	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr8:113418891C>T	ENST00000297405.5	-	35	5915	c.5671G>A	c.(5671-5673)Ggc>Agc	p.G1891S	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1821S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1851S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1787S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1891	Sushi 10. {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						AATTCATTGCCAATTCTTCTT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			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.(5671-5673)Ggc>Agc		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							110	105	106					8																	113418891		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418891C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5671G>A	8.37:g.113418891C>T	ENSP00000297405:p.Gly1891Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Missense_Mutation_p.G1093S|CSMD3_uc003ynt.3_Missense_Mutation_p.G1851S|CSMD3_uc011lhx.2_Missense_Mutation_p.G1787S	p.G1891S	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			34	5830	-			1891			Sushi 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5671G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292355	0.95546	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.53417	0.1795	M	0.78637	2.42	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	0.994;0.93;1.0	T	0.55566	-0.8121	10	0.48119	T	0.1	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	1787;1891;1851	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1851;1891;1161;1787;1821	ENSP00000345799:G1851S;ENSP00000297405:G1891S;ENSP00000341558:G1161S;ENSP00000412263:G1787S;ENSP00000343124:G1821S	ENSP00000297405:G1891S	G	-	1	0	CSMD3	113488067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.574000	0.86865	0.655000	0.94253	GGC		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	79	0	0	0	1	0	9	79					T	113418891	C	T	113418891	3	4	88	1	0	0	0	0	1	0	0	0	3946	594	21	2	5600	2	CSMD3	8	113418891	Missense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	70599358	113418891	32945131	12	1569											
FAM63B	54629	broad.mit.edu	37	15	59113964	59113964	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr15:59113964G>A	ENST00000559228.1	+	5	1253	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	FAM63B_ENST00000450403.2_Missense_Mutation_p.V391M			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	391										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CAACCAACTAGTGGAGAAGAT	0.388																																						uc002afj.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1171-1173)Gtg>Atg		Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.							120	114	116					15																	59113964		1906	4135	6041	SO:0001583	missense	54629							g.chr15:59113964G>A	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1171G>A	15.37:g.59113964G>A	ENSP00000452885:p.Val391Met		Somatic				FAM63B_uc002afi.3_Missense_Mutation_p.V391M|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	p.V391M	NM_001040450	NP_001035540	WXS	Illumina GAIIx	Phase_I	Q8NBR6	FA63B_HUMAN			4	1373	+			391					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1171G>A	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968022	0.92855	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.52526	0.66	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.70714	-0.4796	10	0.56958	D	0.05	-2.6042	19.445	0.94843	0.0:0.0:1.0:0.0	.	391;391	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	M	391	ENSP00000393231:V391M	ENSP00000326194:V391M	V	+	1	0	FAM63B	56901256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.665000	0.90641	0.650000	0.86243	GTG		0.388	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	46	0	0	0	1	0	7	46					A	59113964	G	A	59113964	3	1	88	1	0	0	0	0	1	0	0	0	5597	1029	36	2	1189	2	FAM63B	15	59113964	Missense_Mutation	SNP	G	TCGA-DJ-A2PW-01A-11D-A19J-08		59113964	43417428	13	1570											
SGK269	79834	broad.mit.edu	37	15	77474126	77474126	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr15:77474126T>C	ENST00000560626.2	-	4	618	c.143A>G	c.(142-144)aAt>aGt	p.N48S	PEAK1_ENST00000558305.1_Missense_Mutation_p.N48S|PEAK1_ENST00000312493.4_Missense_Mutation_p.N48S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	48					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GTTACTGTGATTGGCATTAGT	0.483																																						uc021sqy.1																			0											c.(142-144)aAt>aGt		Homo sapiens NKF3 kinase family member (PEAK1), mRNA.							180	170	173					15																	77474126		1926	4111	6037	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77474126T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.143A>G	15.37:g.77474126T>C	ENSP00000452796:p.Asn48Ser		Somatic				PEAK1_uc002bcn.2_Missense_Mutation_p.N48S|PEAK1_uc021sqz.1_5'Flank	p.N48S	NM_024776	NP_079052	WXS	Illumina GAIIx	Phase_I	Q9H792	PEAK1_HUMAN			4	719	-			48					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.143A>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.341940	0.24339	.	.	ENSG00000173517	ENST00000312493	T	0.68765	-0.35	5.77	5.77	0.91146	.	0.558038	0.12692	U	0.447103	T	0.49695	0.1572	N	0.22421	0.69	0.29659	N	0.843333	B	0.22346	0.068	B	0.13407	0.009	T	0.43180	-0.9407	10	0.23891	T	0.37	-10.2808	8.1517	0.31145	0.1329:0.0:0.1388:0.7283	.	48	Q9H792	PEAK1_HUMAN	S	48	ENSP00000309230:N48S	ENSP00000309230:N48S	N	-	2	0	AC087465.1	75261181	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.362000	0.44169	2.330000	0.79161	0.528000	0.53228	AAT		0.483	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			16	124	0	0	0	1	0	16	124					C	77474126	T	C	77474126	3	2	88	1	0	0	0	0	1	0	0	0	14211	1493	52	3	5113	3	SGK269	15	77474126	Missense_Mutation	SNP	T	TCGA-DJ-A2PW-01A-11D-A19J-08	18360162	77474126	25057266	14	1571											
PPM1D	8493	broad.mit.edu	37	17	58740817	58740818	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr17:58740817_58740818delCT	ENST00000305921.3	+	6	1954_1955	c.1722_1723delCT	c.(1720-1725)aactctfs	p.S575fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	575					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGCGAAAGAACTCTGTTAAACT	0.465											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1720-1725)aactctfs		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740817_58740818delCT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1722_1723delCT	17.37:g.58740819_58740820delCT	ENSP00000306682:p.Ser575fs		Somatic	OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.N574fs	NM_003620	NP_003611	WXS	Illumina GAIIx	Phase_I	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1954_1955	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		574					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1722_1723delCT	CCDS11625.1																																																																																				0.465	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		22	75						22	75	---	---	---	---	-	58740818	CT	-	58740817	7	5	88	1	0	1	0	1	0	0	0	0	12337	564	20	0	1744	0	PPM1D	17	58740817	Frame_Shift_Del	DEL	CT	TCGA-DJ-A2PW-01A-11D-A19J-08		58740817	22454393	15	1572											
ZNF345	25850	broad.mit.edu	37	19	37368055	37368055	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:37368055A>T	ENST00000529555.1	+	2	1111	c.323A>T	c.(322-324)cAt>cTt	p.H108L	ZNF345_ENST00000589046.1_Missense_Mutation_p.H108L|ZNF345_ENST00000420450.1_Missense_Mutation_p.H108L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	108					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGCTTACCATCAAAGAATT	0.423																																						uc002oex.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(322-324)cAt>cTt		Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.							68	69	69					19																	37368055		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368055A>T	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.323A>T	19.37:g.37368055A>T	ENSP00000431202:p.His108Leu		Somatic				ZNF345_uc021utn.1_Missense_Mutation_p.H108L|ZNF345_uc002oey.4_Missense_Mutation_p.H108L|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.H108L|ZNF345_uc021utp.1_Missense_Mutation_p.H108L|ZNF345_uc021utq.1_Missense_Mutation_p.H108L	p.H108L	NM_003419	NP_003410	WXS	Illumina GAIIx	Phase_I	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	704	+	Esophageal squamous(110;0.183)		108						Missense_Mutation	SNP	ENST00000529555.1	37	c.323A>T	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240005	0.58995	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	D;D;T	0.86865	-2.18;-2.18;2.96	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95265	0.8464	H	0.97265	3.97	0.34692	D	0.725865	D	0.69078	0.997	D	0.77557	0.99	D	0.97583	1.0112	8	.	.	.	.	10.7525	0.46217	1.0:0.0:0.0:0.0	.	108	Q14585	ZN345_HUMAN	L	108	ENSP00000431216:H108L;ENSP00000431202:H108L;ENSP00000331120:H108L	.	H	+	2	0	ZNF345	42059895	0.961000	0.32948	1.000000	0.80357	0.990000	0.78478	5.848000	0.69458	1.847000	0.53656	0.459000	0.35465	CAT		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			10	36	0	0	0	1	0	10	36					T	37368055	A	T	37368055	3	4	88	1	0	0	0	0	1	0	0	0	17856	217	8	5	325	5	ZNF345	19	37368055	Missense_Mutation	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		37368055	21760928	16	1573											
TRPM4	54795	broad.mit.edu	37	19	49713617	49713617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:49713617C>T	ENST00000252826.5	+	21	3409	c.3283C>T	c.(3283-3285)Cga>Tga	p.R1095*	TRPM4_ENST00000427978.2_Nonsense_Mutation_p.R950*|TRPM4_ENST00000355712.5_Nonsense_Mutation_p.R741*	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1095	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.R1095*(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		ATTGTGCAGGCGACCCCGGAG	0.622																																						uc002pmw.3																			1	Substitution - Nonsense(1)	p.R1095*(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3283-3285)Cga>Tga		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.							38	41	40					19																	49713617		2203	4300	6503	SO:0001587	stop_gained	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713617C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3283C>T	19.37:g.49713617C>T	ENSP00000252826:p.Arg1095*		Somatic				TRPM4_uc010emu.3_Nonsense_Mutation_p.R950*|TRPM4_uc010yak.2_Nonsense_Mutation_p.R559*|TRPM4_uc002pmx.3_Nonsense_Mutation_p.R921*|TRPM4_uc010emv.3_Nonsense_Mutation_p.R980*|TRPM4_uc010yal.2_Nonsense_Mutation_p.R741*|TRPM4_uc002pmy.3_Nonsense_Mutation_p.R437*	p.R1095*	NM_017636	NP_060106	WXS	Illumina GAIIx	Phase_I	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	20	3391	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1095			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Nonsense_Mutation	SNP	ENST00000252826.5	37	c.3283C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	39	7.775985	0.98483	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	.	.	.	5.34	0.531	0.17108	.	0.707747	0.14145	N	0.338404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-4.9386	8.097	0.30835	0.5257:0.3991:0.0:0.0752	.	.	.	.	X	1095;950;741	.	ENSP00000252826:R1095X	R	+	1	2	TRPM4	54405429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.549000	0.06041	0.021000	0.15133	-0.714000	0.03626	CGA		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		7	48	0	0	0	1	0	7	48					T	49713617	C	T	49713617	4	4	88	1	0	0	0	0	0	1	0	0	16585	760	27	1	3365	1	TRPM4	19	49713617	Nonsense_Mutation	SNP	C	TCGA-DJ-A2PW-01A-11D-A19J-08	12345562	49713617	9415366	17	1574											
IL11	3589	broad.mit.edu	37	19	55877466	55877466	+	Frame_Shift_Del	DEL	C	C	-	rs530006295		TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr19:55877466delC	ENST00000264563.2	-	5	571	c.509delG	c.(508-510)ggcfs	p.G170fs	FAM71E2_ENST00000424985.3_5'Flank|IL11_ENST00000585513.1_Frame_Shift_Del_p.G170fs|IL11_ENST00000590625.1_Frame_Shift_Del_p.G91fs	NM_000641.3	NP_000632.1	P20809	IL11_HUMAN	interleukin 11	170					B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|fat cell differentiation (GO:0045444)|megakaryocyte differentiation (GO:0030219)|negative regulation of hormone secretion (GO:0046888)|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)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-11 receptor binding (GO:0005142)			large_intestine(1)|skin(1)	2	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCCCTGATGCCCCCCCAGGC	0.746																																						uc002qks.1																			0				large_intestine(1)|skin(1)	2						c.(508-510)ggcfs		Homo sapiens interleukin 11 (IL11), mRNA.	Oprelvekin(DB00038)			15,4075		4,7,2034	8	8	8			-1.5	0.2	19		8	40,7894		4,32,3931	no	frameshift	IL11	NM_000641.2		8,39,5965	A1A1,A1R,RR		0.5042,0.3667,0.4574			55877466	55,11969	2166	4234	6400	SO:0001589	frameshift_variant	3589				B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-11 receptor binding	g.chr19:55877466delC	X58377	CCDS12923.1, CCDS59423.1	19q13.3-q13.4	2014-01-30			ENSG00000095752	ENSG00000095752		"Interleukins and interleukin receptors", "Endogenous ligands"	5966	protein-coding gene	gene with protein product	"adipogenesis inhibitory factor", "oprelvekin"	147681				1386338	Standard	NM_001267718		Approved	IL-11, AGIF	uc002qks.2	P20809		ENST00000264563.2:c.509delG	19.37:g.55877466delC	ENSP00000264563:p.Gly170fs		Somatic				FAM71E2_uc002qkr.2_5'Flank|FAM71E2_uc002qkq.2_5'Flank|IL11_uc010yfx.1_Frame_Shift_Del_p.G91fs	p.G170fs	NM_000641	NP_000632	WXS	Illumina GAIIx	Phase_I	P20809	IL11_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	645	-	Breast(117;0.191)	Renal(1328;0.245)	170					B4DQV5|Q96EB4	Frame_Shift_Del	DEL	ENST00000264563.2	37	c.509delG	CCDS12923.1																																																																																				0.746	IL11-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453027.1	NM_000641		2	4						2	4	---	---	---	---	-	55877466	C	-	55877466	7	5	88	1	0	1	0	1	0	0	0	0	7622	739	26	0	94	0	IL11	19	55877466	Frame_Shift_Del	DEL	C	TCGA-DJ-A2PW-01A-11D-A19J-08	6163849	55877466	3251517	18	1575											
TNRC6B	23112	broad.mit.edu	37	22	40719206	40719206	+	Silent	SNP	A	A	T			TCGA-DJ-A2PW-01A-11D-A19J-08	TCGA-DJ-A2PW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6409f4a-e1fb-4831-8fe7-0a67450f615e	d33d4bc0-93b1-46ba-af93-21ad6af330f7	g.chr22:40719206A>T	ENST00000454349.2	+	23	5674	c.5463A>T	c.(5461-5463)ctA>ctT	p.L1821L	TNRC6B_ENST00000301923.9_Silent_p.L1017L|TNRC6B_ENST00000402203.1_Silent_p.L1017L|TNRC6B_ENST00000335727.9_Silent_p.L1711L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1821					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)|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)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTCCTTTACTACCTGGTGACC	0.517																																						uc011aor.2																			0				breast(1)	1						c.(5461-5463)ctA>ctT		Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.							54	54	54					22																	40719206		1897	4122	6019	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding	g.chr22:40719206A>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5463A>T	22.37:g.40719206A>T			Somatic				TNRC6B_uc003aym.3_Silent_p.L1017L|TNRC6B_uc003ayn.4_Silent_p.L1711L	p.L1821L	NM_001162501	NP_001155973	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			22	5674	+			1821					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.5463A>T	CCDS54533.1																																																																																				0.517	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				4	41	0	0	0	1	0	4	41					T	40719206	A	T	40719206	2	4	88	1	0	0	0	0	0	0	0	1	16338	378	14	5		5	TNRC6B	22	40719206	Silent	SNP	A	TCGA-DJ-A2PW-01A-11D-A19J-08		40719206	10585360	19	1576											
RAD51AP2	729475	broad.mit.edu	37	2	17698454	17698454	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr2:17698454C>T	ENST00000399080.2	-	1	1252	c.1229G>A	c.(1228-1230)tGt>tAt	p.C410Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	410										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATAATCCAACAATTTCCTCT	0.313																																						uc002rcl.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1228-1230)tGt>tAt		Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.							50	48	49					2																	17698454		1800	4064	5864	SO:0001583	missense	729475							g.chr2:17698454C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1229G>A	2.37:g.17698454C>T	ENSP00000382030:p.Cys410Tyr		Somatic				RAD51AP2_uc010exn.1_Missense_Mutation_p.C401Y	p.C410Y	NM_001099218	NP_001092688	WXS	Illumina GAIIx	Phase_I	Q09MP3	R51A2_HUMAN			0	1253	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410						Missense_Mutation	SNP	ENST00000399080.2	37	c.1229G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.819769	0.00595	.	.	ENSG00000214842	ENST00000399080	T	0.21932	1.98	4.61	-1.91	0.07641	.	.	.	.	.	T	0.06050	0.0157	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38394	-0.9663	9	0.02654	T	1	13.1493	3.6466	0.08187	0.2717:0.4071:0.0:0.3212	.	410	Q09MP3	R51A2_HUMAN	Y	410	ENSP00000382030:C410Y	ENSP00000382030:C410Y	C	-	2	0	RAD51AP2	17561935	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.520000	0.06252	-0.278000	0.09180	-0.251000	0.11542	TGT		0.313	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		13	47	0	0	0	1	0	13	47					T	17698454	C	T	17698454	3	4	89	1	0	0	0	0	1	0	0	0	12987	478	17	2	2262	2	RAD51AP2	2	17698454	Missense_Mutation	SNP	C	TCGA-DJ-A2PX-01A-11D-A18F-08		17698454	225500919	1	1577											
HEPACAM2	253012	broad.mit.edu	37	7	92821645	92821645	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr7:92821645C>A	ENST00000394468.2	-	9	1384	c.1307G>T	c.(1306-1308)tGt>tTt	p.C436F	HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V416L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.C424F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.C459F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	436					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCCCGATACACAATCAGAGGC	0.398																																						uc011khy.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1375-1377)tGt>tTt		Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.							128	116	120					7																	92821645		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92821645C>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1307G>T	7.37:g.92821645C>A	ENSP00000377980:p.Cys436Phe		Somatic				HEPACAM2_uc003uml.3_Missense_Mutation_p.C424F|HEPACAM2_uc010lff.3_Missense_Mutation_p.V416L|HEPACAM2_uc003umm.3_Missense_Mutation_p.C436F	p.C459F	NM_198151	NP_937794	WXS	Illumina GAIIx	Phase_I	A8MVW5	HECA2_HUMAN			9	1399	-			436					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.1376G>T	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.20|12.20	1.865566|1.865566	0.32977|0.32977	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000453812|ENST00000440868	T;T;T|T	0.47869|0.57595	0.83;0.83;0.83|0.39	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.627597|.	0.16881|.	N|.	0.195718|.	T|T	0.36963|0.36963	0.0986|0.0986	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|B	0.16802|0.02656	0.003;0.011;0.019|0.0	B;B;B|B	0.23018|0.04013	0.012;0.012;0.043|0.001	T|T	0.26155|0.26155	-1.0111|-1.0111	10|9	0.10111|0.66056	T|D	0.7|0.02	-0.1274|-0.1274	11.8135|11.8135	0.52195|0.52195	0.2465:0.7535:0.0:0.0|0.2465:0.7535:0.0:0.0	.|.	459;436;424|416	E9PDV5;A8MVW5;A8MVW5-2|C9JN07	.;HECA2_HUMAN;.|.	F|L	436;424;459|416	ENSP00000377980:C436F;ENSP00000340532:C424F;ENSP00000390204:C459F|ENSP00000389592:V416L	ENSP00000340532:C424F|ENSP00000389592:V416L	C|V	-|-	2|1	0|0	HEPACAM2|HEPACAM2	92659581|92659581	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.004000|0.004000	0.04260|0.04260	0.450000|0.450000	0.21762|0.21762	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.398	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		22	73	0	0	0	1	0	22	73					A	92821645	C	A	92821645	3	1	89	1	0	0	0	0	1	0	0	0	7053	478	17	4	89	4	HEPACAM2	7	92821645	Missense_Mutation	SNP	C	TCGA-DJ-A2PX-01A-11D-A18F-08		92821645	66317018	2	1578											
FAT3	120114	broad.mit.edu	37	11	92258019	92258019	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr11:92258019A>G	ENST00000298047.6	+	2	3529	c.3512A>G	c.(3511-3513)cAg>cGg	p.Q1171R	FAT3_ENST00000409404.2_Missense_Mutation_p.Q1171R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q1171R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1021R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1171	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCAGATCCAGGCTGAAGAT	0.403										TCGA Ovarian(4;0.039)																												uc001pdj.4																			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.(3511-3513)cAg>cGg		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							53	53	53					11																	92258019		1930	4138	6068	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92258019A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3512A>G	11.37:g.92258019A>G	ENSP00000298047:p.Gln1171Arg	TCGA Ovarian(4;0.039)	Somatic					p.Q1171R	NM_001008781	NP_001008781	WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			1	3529	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1171			Cadherin 11.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3512A>G		.	.	.	.	.	.	.	.	.	.	A	23.2	4.392036	0.83011	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.66	5.66	0.87406	.	.	.	.	.	T	0.42245	0.1194	N	0.11106	0.095	0.38813	D	0.95546	D	0.54772	0.968	P	0.54270	0.747	T	0.42413	-0.9453	9	0.24483	T	0.36	.	15.9012	0.79377	1.0:0.0:0.0:0.0	.	1171	Q8TDW7-3	.	R	1171;1171;1171;1021	ENSP00000298047:Q1171R;ENSP00000387040:Q1171R;ENSP00000443786:Q1171R;ENSP00000432586:Q1021R	ENSP00000298047:Q1171R	Q	+	2	0	FAT3	91897667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.300000	0.78841	2.167000	0.68274	0.528000	0.53228	CAG		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	43	0	0	0	1	0	3	43					G	92258019	A	G	92258019	3	3	89	1	0	0	0	0	1	0	0	0	5691	188	7	3	3518	3	FAT3	11	92258019	Missense_Mutation	SNP	A	TCGA-DJ-A2PX-01A-11D-A18F-08		92258019	42748497	3	1579											
CYP11A1	1583	broad.mit.edu	37	15	74630341	74630341	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr15:74630341G>A	ENST00000268053.6	-	9	1692	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	CYP11A1_ENST00000419019.2_Missense_Mutation_p.P355L|CYP11A1_ENST00000358632.4_Missense_Mutation_p.P355L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	513					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTGGTTAAAGGGCCAGAAGGT	0.552																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1537-1539)cCc>cTc		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						140	117	125					15																	74630341		2198	4297	6495	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74630341G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1538C>T	15.37:g.74630341G>A	ENSP00000268053:p.Pro513Leu		Somatic				CYP11A1_uc002axs.2_Missense_Mutation_p.P355L|CYP11A1_uc010bjm.1_Missense_Mutation_p.P355L|CYP11A1_uc010bjn.1_Non-coding_Transcript	p.P513L	NM_000781	NP_001093243	WXS	Illumina GAIIx	Phase_I	P05108	CP11A_HUMAN			8	1693	-			513					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.1538C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517508	0.85495	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.71817	-0.6;-0.6;-0.6	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82882	-0.0237	10	0.66056	D	0.02	-14.5472	18.2052	0.89852	0.0:0.0:1.0:0.0	.	483;513	B4DTE5;P05108	.;CP11A_HUMAN	L	513;355;355;278	ENSP00000268053:P513L;ENSP00000351455:P355L;ENSP00000405488:P355L	ENSP00000268053:P513L	P	-	2	0	CYP11A1	72417394	1.000000	0.71417	0.943000	0.38184	0.683000	0.39861	7.899000	0.87370	2.393000	0.81446	0.549000	0.68633	CCC		0.552	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			16	40	0	0	0	1	0	16	40					A	74630341	G	A	74630341	3	1	89	1	0	0	0	0	1	0	0	0	4144	1232	43	2	31	2	CYP11A1	15	74630341	Missense_Mutation	SNP	G	TCGA-DJ-A2PX-01A-11D-A18F-08		74630341	27901051	4	1580											
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PX-01A-11D-A18F-08	TCGA-DJ-A2PX-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee64b7c9-39cc-43df-a923-b6d53a164bc0	a3aa542a-2487-41cb-84ce-7bfe128b9948	g.chr22:22842418A>G	ENST00000406426.1	-	4	2048	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F436L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428																																						uc002zwc.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1306-1308)Ttt>Ctt		Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.							110	105	107					22																	22842418		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842418A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1306T>C	22.37:g.22842418A>G	ENSP00000385998:p.Phe436Leu		Somatic				abParts_uc021wml.1_Splice_Site|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.F436L	p.F436L	NM_080764	NP_542942	WXS	Illumina GAIIx	Phase_I	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	2082	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	436						Missense_Mutation	SNP	ENST00000406426.1	37	c.1306T>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754591	0.69648	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58940	0.3;0.3	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48333	0.1494	L	0.35487	1.065	0.42761	D	0.993803	P	0.35612	0.512	B	0.36989	0.238	T	0.53330	-0.8454	9	0.52906	T	0.07	-16.5218	12.726	0.57170	1.0:0.0:0.0:0.0	.	436	Q86YH2	Z280B_HUMAN	L	436	ENSP00000385998:F436L;ENSP00000353586:F436L	ENSP00000353586:F436L	F	-	1	0	ZNF280B	21172418	1.000000	0.71417	0.920000	0.36463	0.980000	0.70556	8.122000	0.89584	2.172000	0.68678	0.533000	0.62120	TTT		0.428	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		3	114	0	0	0	1	0	3	114					G	22842418	A	G	22842418	3	3	89	1	0	0	0	0	1	0	0	0	17812	72	3	3	329	3	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-DJ-A2PX-01A-11D-A18F-08		22842418	28462148	5	1581											
CLSTN1	22883	broad.mit.edu	37	1	9804008	9804008	+	Silent	SNP	G	G	A			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:9804008G>A	ENST00000377298.4	-	9	2082	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	CLSTN1_ENST00000377288.3_Silent_p.L430L|CLSTN1_ENST00000361311.4_Silent_p.L420L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	430					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGACGGAAGAGGAAGATCA	0.483																																						uc001aqh.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1288-1290)ctC>ctT		Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.							106	114	111					1																	9804008		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804008G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1290C>T	1.37:g.9804008G>A			Somatic				CLSTN1_uc001aqi.3_Silent_p.L420L|CLSTN1_uc010oag.2_Silent_p.L430L	p.L430L	NM_001009566	NP_001009566	WXS	Illumina GAIIx	Phase_I	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	8	2049	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	430					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.1290C>T	CCDS30580.1																																																																																				0.483	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			6	110	0	0	0	1	0	6	110					A	9804008	G	A	9804008	2	1	90	1	0	0	0	0	0	0	0	1	3561	929	33	2		2	CLSTN1	1	9804008	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		9804008	239446613	1	1582											
FMO3	2328	broad.mit.edu	37	1	171079976	171079976	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr1:171079976G>A	ENST00000367755.4	+	6	776	c.665G>A	c.(664-666)aGc>aAc	p.S222N	FMO3_ENST00000392085.2_Missense_Mutation_p.S222N|FMO3_ENST00000542847.1_Missense_Mutation_p.S202N|FMO3_ENST00000538429.1_Missense_Mutation_p.S159N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	222					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)	TGGGTGATGAGCCGGGTCTGG	0.463																																						uc001ghi.3																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(664-666)aGc>aAc		Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.							195	173	181					1																	171079976		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.chr1:171079976G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.665G>A	1.37:g.171079976G>A	ENSP00000356729:p.Ser222Asn		Somatic				FMO3_uc001ghh.3_Missense_Mutation_p.S222N|FMO3_uc010pmb.2_Missense_Mutation_p.S202N|FMO3_uc010pmc.2_Missense_Mutation_p.S159N	p.S222N	NM_001002294	NP_008825	WXS	Illumina GAIIx	Phase_I	P31513	FMO3_HUMAN			5	776	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		222					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.665G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272037	0.23221	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.99	4.07	0.47477	.	0.167172	0.64402	D	0.000004	T	0.30696	0.0773	N	0.25789	0.76	0.36520	D	0.870105	P;B;B	0.52061	0.95;0.4;0.31	P;B;B	0.55577	0.779;0.251;0.367	T	0.12734	-1.0536	10	0.16896	T	0.51	-17.5315	6.313	0.21174	0.1562:0.16:0.6837:0.0	.	159;202;222	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	N	222;222;202;159	ENSP00000356729:S222N;ENSP00000375935:S222N;ENSP00000444073:S202N;ENSP00000439500:S159N	ENSP00000356729:S222N	S	+	2	0	FMO3	169346600	0.596000	0.26866	0.953000	0.39169	0.641000	0.38312	1.673000	0.37534	1.293000	0.44690	0.650000	0.86243	AGC		0.463	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		5	120	0	0	0	1	0	5	120					A	171079976	G	A	171079976	3	1	90	1	0	0	0	0	1	0	0	0	5956	971	34	2	683	2	FMO3	1	171079976	Missense_Mutation	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08	161275968	171079976	78170645	2	1583											
GPD2	2820	broad.mit.edu	37	2	157352615	157352615	+	Silent	SNP	T	T	G			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr2:157352615T>G	ENST00000310454.6	+	3	534	c.162T>G	c.(160-162)ccT>ccG	p.P54P	AC011308.1_ENST00000601086.1_Splice_Site_p.G8G|GPD2_ENST00000409674.1_Silent_p.P54P|GPD2_ENST00000540309.1_Silent_p.P54P|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Silent_p.P54P	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	54					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACAGGGAGCCTCCTTCCAGAG	0.443																																						uc002tzf.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(160-162)ccT>ccG		Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							86	82	83					2																	157352615		2203	4300	6503	SO:0001819	synonymous_variant	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157352615T>G		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.162T>G	2.37:g.157352615T>G			Somatic				GPD2_uc010zch.2_Intron|GPD2_uc002tzd.4_Silent_p.P54P	p.P54P	NM_001083112	NP_001076581	WXS	Illumina GAIIx	Phase_I	P43304	GPDM_HUMAN			2	522	+			54					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	c.162T>G	CCDS2202.1																																																																																				0.443	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			4	42	0	0	0	1	0	4	42					G	157352615	T	G	157352615	2	3	90	1	0	0	0	0	0	0	0	1	6606	1538	54	5		5	GPD2	2	157352615	Silent	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		157352615	85846758	3	1584											
ANXA3	306	broad.mit.edu	37	4	79517010	79517010	+	Silent	SNP	G	G	A			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr4:79517010G>A	ENST00000264908.6	+	9	982	c.603G>A	c.(601-603)ctG>ctA	p.L201L	ANXA3_ENST00000512884.1_Silent_p.L162L|ANXA3_ENST00000503570.2_Silent_p.L162L	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	201					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTGAGATCCTGTGTTTAAGGA	0.328																																					GBM(2;126 157 27790 28920 42492)	uc003hld.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(601-603)ctG>ctA		Homo sapiens annexin A3 (ANXA3), mRNA.							114	114	114					4																	79517010		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79517010G>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.603G>A	4.37:g.79517010G>A			Somatic					p.L201L	NM_005139	NP_005130	WXS	Illumina GAIIx	Phase_I	P12429	ANXA3_HUMAN			8	913	+			201					B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.603G>A	CCDS3584.1																																																																																				0.328	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		3	26	0	0	0	1	0	3	26					A	79517010	G	A	79517010	2	1	90	1	0	0	0	0	0	0	0	1	719	1364	48	2		2	ANXA3	4	79517010	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		79517010	111637266	4	1585											
SGK1	6446	broad.mit.edu	37	6	134495197	134495197	+	Silent	SNP	C	C	T			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr6:134495197C>T	ENST00000237305.7	-	3	262	c.174G>A	c.(172-174)ttG>ttA	p.L58L	SGK1_ENST00000367857.5_Silent_p.L48L|SGK1_ENST00000413996.3_Silent_p.L72L|SGK1_ENST00000367858.5_Silent_p.L153L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.L58L|SGK1_ENST00000528577.1_Silent_p.L86L	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	58	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGGAGATCTTCAAGATGGACT	0.498																																						uc003qeo.4																			4	Substitution - Missense(4)	p.L86F(1)|p.L153F(1)|p.K152K(1)|p.L48F(1)|p.L58F(1)	lung(4)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(457-459)ttG>ttA		Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 2, mRNA.							136	128	130					6																	134495197		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495197C>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"serum/glucocorticoid regulated kinase"	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.174G>A	6.37:g.134495197C>T			Somatic				SGK1_uc011ect.2_Silent_p.L48L|SGK1_uc003qen.4_Silent_p.L58L|SGK1_uc011ecu.2_Silent_p.L58L|SGK1_uc011ecv.2_Silent_p.L72L|SGK1_uc011ecw.2_Silent_p.L86L	p.L153L	NM_001143676	NP_001137148	WXS	Illumina GAIIx	Phase_I	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	4	1057	-	Colorectal(23;0.221)		58			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.459G>A	CCDS5170.1																																																																																				0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			30	75	0	0	0	1	0	30	75					T	134495197	C	T	134495197	2	4	90	1	0	0	0	0	0	0	0	1	14207	825	29	2		2	SGK1	6	134495197	Silent	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		134495197	36619870	5	1586											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	40	0	0	0	1	0	24	40					T	140453136	A	T	140453136	3	4	90	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PY-01A-11D-A18F-08		140453136	18685527	6	1587											
MYOM2	9172	broad.mit.edu	37	8	2046799	2046799	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:2046799C>T	ENST00000262113.4	+	19	2567	c.2426C>T	c.(2425-2427)aCc>aTc	p.T809I	MYOM2_ENST00000523438.1_Missense_Mutation_p.T234I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	809	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGCCTGGACCATGCCGGAG	0.657																																						uc003wpx.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2425-2427)aCc>aTc		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							31	28	29					8																	2046799		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2046799C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2426C>T	8.37:g.2046799C>T	ENSP00000262113:p.Thr809Ile		Somatic				MYOM2_uc011kwi.2_Missense_Mutation_p.T234I	p.T809I	NM_003970	NP_003961	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	18	2564	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	809					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2426C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141738	0.77775	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.53206	0.63;0.63	5.14	4.26	0.50523	.	0.055645	0.64402	D	0.000001	T	0.65502	0.2697	M	0.72576	2.205	0.48395	D	0.999645	D	0.71674	0.998	D	0.66979	0.948	T	0.69771	-0.5055	10	0.87932	D	0	.	13.6013	0.62020	0.0:0.9245:0.0:0.0755	.	809	P54296	MYOM2_HUMAN	I	809;234	ENSP00000262113:T809I;ENSP00000428396:T234I	ENSP00000262113:T809I	T	+	2	0	MYOM2	2034206	1.000000	0.71417	0.825000	0.32803	0.839000	0.47603	5.397000	0.66302	1.163000	0.42636	0.561000	0.74099	ACC		0.657	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		3	18	0	0	0	1	0	3	18					T	2046799	C	T	2046799	3	4	90	1	0	0	0	0	1	0	0	0	10092	507	18	2	2496	2	MYOM2	8	2046799	Missense_Mutation	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		2046799	144317223	7	1588											
VDAC3	7419	broad.mit.edu	37	8	42260882	42260882	+	Missense_Mutation	SNP	T	T	C	rs373787238		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr8:42260882T>C	ENST00000022615.4	+	8	673	c.605T>C	c.(604-606)aTt>aCt	p.I202T	VDAC3_ENST00000392935.3_Missense_Mutation_p.I203T|VDAC3_ENST00000521158.1_Missense_Mutation_p.I203T|VDAC3_ENST00000522572.1_Intron			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	202					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATGAGAAGATTGAAACATCC	0.398																																						uc022aul.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(607-609)aTt>aCt		Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	Dihydroxyaluminium(DB01375)	T	THR/ILE,THR/ILE	1,4405	2.1+/-5.4	0,1,2202	198	174	182		605,608	5.7	1.0	8		182	0,8600		0,0,4300	no	missense,missense	VDAC3	NM_005662.5,NM_001135694.1	89,89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	202/284,203/285	42260882	1,13005	2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42260882T>C	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.605T>C	8.37:g.42260882T>C	ENSP00000022615:p.Ile202Thr		Somatic				VDAC3_uc003xpc.3_Missense_Mutation_p.I202T|VDAC3_uc011lct.2_Missense_Mutation_p.I202T	p.I203T	NM_001135694	NP_001129166	WXS	Illumina GAIIx	Phase_I	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	610	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	202					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.608T>C	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561903	0.65538	2.27E-4	0.0	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.42513	0.97;0.97;0.97	5.73	5.73	0.89815	.	0.181335	0.49916	D	0.000132	T	0.38904	0.1058	L	0.45581	1.43	0.49582	D	0.9998	B	0.27910	0.193	B	0.24701	0.055	T	0.30031	-0.9992	10	0.87932	D	0	-13.385	14.2659	0.66118	0.0:0.0:0.0:1.0	.	202	Q9Y277	VDAC3_HUMAN	T	203;203;202	ENSP00000442811:I203T;ENSP00000428845:I203T;ENSP00000022615:I202T	ENSP00000022615:I202T	I	+	2	0	VDAC3	42380039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.234000	0.72326	2.302000	0.77476	0.533000	0.62120	ATT		0.398	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			3	70	0	0	0	1	0	3	70					C	42260882	T	C	42260882	3	2	90	1	0	0	0	0	1	0	0	0	17145	1493	52	3	630	3	VDAC3	8	42260882	Missense_Mutation	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08	40214083	42260882	104103140	8	1589											
ST6GALNAC4	27090	broad.mit.edu	37	9	130672244	130672244	+	Silent	SNP	G	G	A	rs188342632		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr9:130672244G>A	ENST00000335791.5	-	5	980	c.705C>T	c.(703-705)agC>agT	p.S235S	ST6GALNAC4_ENST00000343609.2_Silent_p.S151S|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	235					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGTAGCTGTCGCTGACCATCC	0.647													G|||	1	0.000199681	0	0	5008	,	,		14842	0.001		0	False		,,,				2504	0					uc004bss.3																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(703-705)agC>agT		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.							45	40	42					9																	130672244		2203	4299	6502	SO:0001819	synonymous_variant	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130672244G>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"Sialyltransferases"	17846	protein-coding gene	gene with protein product		606378	"sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.705C>T	9.37:g.130672244G>A			Somatic				ST6GALNAC4_uc004bst.3_Silent_p.S151S	p.S235S	NM_175039	NP_778205	WXS	Illumina GAIIx	Phase_I	Q9H4F1	SIA7D_HUMAN			4	981	-			235					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Silent	SNP	ENST00000335791.5	37	c.705C>T	CCDS6883.1																																																																																				0.647	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		20	21	0	0	0	1	0	20	21					A	130672244	G	A	130672244	2	1	90	1	0	0	0	0	0	0	0	1	15225	1078	38	1		1	ST6GALNAC4	9	130672244	Silent	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		130672244	10541187	9	1590											
ITGA8	8516	broad.mit.edu	37	10	15655757	15655757	+	Silent	SNP	C	C	A	rs200613964	byFrequency	TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr10:15655757C>A	ENST00000378076.3	-	15	1808	c.1455G>T	c.(1453-1455)ccG>ccT	p.P485P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					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						CAGTCACAACCGGTCTTGCTC	0.463																																						uc001ioc.1																			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.(1453-1455)ccG>ccT		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							94	96	95					10																	15655757		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655757C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1455G>T	10.37:g.15655757C>A			Somatic				ITGA8_uc010qcb.1_Silent_p.P470P	p.P485P	NM_003638	NP_003629	WXS	Illumina GAIIx	Phase_I	P53708	ITA8_HUMAN			14	1455	-			485					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1455G>T	CCDS31155.1																																																																																				0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		25	50	0	0	0	1	0	25	50					A	15655757	C	A	15655757	2	1	90	1	0	0	0	0	0	0	0	1	7882	639	23	4		4	ITGA8	10	15655757	Silent	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		15655757	119878990	10	1591											
GANAB	23193	broad.mit.edu	37	11	62400170	62400170	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr11:62400170T>C	ENST00000356638.3	-	9	879	c.863A>G	c.(862-864)gAg>gGg	p.E288G	GANAB_ENST00000534779.1_Missense_Mutation_p.E196G|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000346178.4_Missense_Mutation_p.E310G|GANAB_ENST00000540933.1_Missense_Mutation_p.E191G	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	288					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTTGTACAGCTCATACTGGAA	0.552																																					Melanoma(23;1005 1074 15747 18937)	uc001nua.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(928-930)gAg>gGg		Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.							217	205	209					11																	62400170		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400170T>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.863A>G	11.37:g.62400170T>C	ENSP00000349053:p.Glu288Gly		Somatic				GANAB_uc001nub.3_Missense_Mutation_p.E288G|GANAB_uc001nuc.3_Missense_Mutation_p.E191G|GANAB_uc010rma.2_Missense_Mutation_p.E196G|GANAB_uc010rmb.2_Missense_Mutation_p.E174G	p.E310G	NM_198335	NP_938149	WXS	Illumina GAIIx	Phase_I	Q14697	GANAB_HUMAN			9	962	-			288					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.929A>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708938	0.89018	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.19	5.19	0.71726	Glycoside hydrolase-type carbohydrate-binding (1);	0.055923	0.64402	D	0.000001	D	0.90034	0.6888	M	0.64080	1.96	0.58432	D	0.999999	D;D;P;B	0.53151	0.958;0.958;0.566;0.182	D;P;B;B	0.64877	0.93;0.876;0.285;0.124	D	0.90941	0.4797	10	0.87932	D	0	-29.607	13.0449	0.58920	0.0:0.0:0.0:1.0	.	174;196;288;310	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	G	310;288;196;191	ENSP00000340466:E310G;ENSP00000349053:E288G;ENSP00000435306:E196G;ENSP00000442962:E191G	ENSP00000340466:E310G	E	-	2	0	GANAB	62156746	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.828000	0.86729	2.184000	0.69523	0.374000	0.22700	GAG		0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		3	208	0	0	0	1	0	3	208					C	62400170	T	C	62400170	3	2	90	1	0	0	0	0	1	0	0	0	6233	1551	54	3	2035	3	GANAB	11	62400170	Missense_Mutation	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		62400170	72606346	11	1592											
CNGB1	1258	broad.mit.edu	37	16	57921841	57921841	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr16:57921841C>T	ENST00000251102.8	-	32	3440	c.3380G>A	c.(3379-3381)gGc>gAc	p.G1127D	CNGB1_ENST00000564448.1_Missense_Mutation_p.G1121D	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.G1127D(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGCAAGTTTGCCGCCTTTTGC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			1	Substitution - Missense(1)	p.G1127D(2)|p.G1126G(1)	cervix(1)	breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3379-3381)gGc>gAc		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							93	99	97					16																	57921841		1945	4139	6084	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57921841C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3380G>A	16.37:g.57921841C>T	ENSP00000251102:p.Gly1127Asp		Somatic				CNGB1_uc010cdh.2_Missense_Mutation_p.G1121D	p.G1127D	NM_001297	NP_001288	WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			31	3445	-			1127					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3380G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745368	0.49151	.	.	ENSG00000070729	ENST00000251102	D	0.96940	-4.18	5.46	5.46	0.80206	.	0.169139	0.37053	N	0.002266	D	0.97216	0.9090	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	D	0.96877	0.9643	10	0.51188	T	0.08	.	13.0314	0.58845	0.0:0.7343:0.2657:0.0	.	499;1127	Q14028-2;Q14028	.;CNGB1_HUMAN	D	1127	ENSP00000251102:G1127D	ENSP00000251102:G1127D	G	-	2	0	CNGB1	56479342	0.998000	0.40836	1.000000	0.80357	0.143000	0.21401	1.960000	0.40422	2.567000	0.86603	0.563000	0.77884	GGC		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		4	142	0	0	0	1	0	4	142					T	57921841	C	T	57921841	3	4	90	1	0	0	0	0	1	0	0	0	3600	739	26	2	383	2	CNGB1	16	57921841	Missense_Mutation	SNP	C	TCGA-DJ-A2PY-01A-11D-A18F-08		57921841	32432912	12	1593											
SRR	63826	broad.mit.edu	37	17	2224836	2224836	+	Splice_Site	SNP	G	G	T	rs147900333		TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr17:2224836G>T	ENST00000344595.5	+	6	838	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	174					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	TTCACTAAAGGTTCCTTTGGT	0.388																																						uc002fue.1																			0				NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.e6-1		Homo sapiens serine racemase (SRR), mRNA.	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	G	PHE/VAL	0,4406		0,0,2203	88	87	87		520	3.9	1.0	17	dbSNP_134	87	1,8599		0,1,4299	no	missense-near-splice	SRR	NM_021947.1	50	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	174/341	2224836	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|D-serine ammonia-lyase activity|L-serine ammonia-lyase activity|PDZ domain binding|calcium ion binding|glycine binding|magnesium ion binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2224836G>T	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.520-1G>T	17.37:g.2224836G>T			Somatic				SRR_uc002fui.1_Splice_Site_p.V25_splice	p.V174_splice	NM_021947	NP_068766	WXS	Illumina GAIIx	Phase_I	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	6	588	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	174					D3DTI5|Q6IA55	Splice_Site	SNP	ENST00000344595.5	37	c.520_splice	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959640	0.53400	0.0	1.16E-4	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.86	3.88	0.44766	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.256963	0.38164	N	0.001798	D	0.96312	0.8797	M	0.85777	2.775	0.80722	D	1	P	0.39181	0.663	B	0.43225	0.412	D	0.94701	0.7883	9	.	.	.	.	11.6752	0.51425	0.1422:0.0:0.8578:0.0	.	174	Q9GZT4	SRR_HUMAN	F	174	ENSP00000339435:V174F	.	V	+	1	0	SRR	2171586	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.614000	0.54160	0.817000	0.34445	0.563000	0.77884	GTT		0.388	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947	Missense_Mutation	24	37	0	0	0	1	0	24	37					T	2224836	G	T	2224836	5	4	90	1	0	0	0	0	0	0	1	0	15165	1275	44	4	538	4	SRR	17	2224836	Splice_Site	SNP	G	TCGA-DJ-A2PY-01A-11D-A18F-08		2224836	78970374	13	1594											
NDUFA6	4700	broad.mit.edu	37	22	42482290	42482293	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chr22:42482290_42482293delTTAA	ENST00000498737.2	-	3	491_494	c.359_362delTTAA	c.(358-363)attaaafs	p.IK120fs	NDUFA6_ENST00000602404.1_Frame_Shift_Del_p.IK94fs|NDUFA6_ENST00000470753.1_Frame_Shift_Del_p.IK37fs	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	120					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						CTTCCATACTTTAATTGTTTCTTC	0.451																																						uc003bcb.3																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(358-363)attaaafs		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa (NDUFA6), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)																																			SO:0001589	frameshift_variant	4700				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr22:42482290_42482293delTTAA	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.359_362delTTAA	22.37:g.42482290_42482293delTTAA	ENSP00000418842:p.Ile120fs		Somatic					p.I120fs	NM_002490	NP_002481	WXS	Illumina GAIIx	Phase_I	P56556	NDUA6_HUMAN			2	421_424	-			120					B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Frame_Shift_Del	DEL	ENST00000498737.2	37	c.359_362delTTAA	CCDS33656.1																																																																																				0.451	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		23	34						23	34	---	---	---	---	-	42482293	TTAA	-	42482290	7	5	90	1	0	1	0	1	0	0	0	0	10269	1841	64	0	106	0	NDUFA6	22	42482290	Frame_Shift_Del	DEL	TTAA	TCGA-DJ-A2PY-01A-11D-A18F-08		42482290	8822276	14	1595											
ARMCX2	9823	broad.mit.edu	37	X	100911291	100911291	+	Silent	SNP	T	T	C			TCGA-DJ-A2PY-01A-11D-A18F-08	TCGA-DJ-A2PY-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05020be-81ae-4f46-a0d8-3edcc31776ab	9df33b2b-f35b-4f88-b444-68a862b36451	g.chrX:100911291T>C	ENST00000328766.5	-	5	1737	c.1284A>G	c.(1282-1284)ggA>ggG	p.G428G	ARMCX2_ENST00000330154.2_Silent_p.G428G|ARMCX2_ENST00000356824.4_Silent_p.G428G|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	428						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						TTGGGAGGCCTCCCAATTTGC	0.388																																						uc004eid.2																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1282-1284)ggA>ggG		Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.							137	122	127					X																	100911291		2203	4300	6503	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100911291T>C	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1284A>G	X.37:g.100911291T>C			Somatic				ARMCX2_uc010nnt.2_Silent_p.G428G|ARMCX2_uc004eie.3_Silent_p.G428G|ARMCX2_uc004eif.3_Silent_p.G428G|ARMCX2_uc004eig.3_Silent_p.G428G|ARMCX2_uc022caq.1_Silent_p.G428G	p.G428G	NM_177949	NP_808818	WXS	Illumina GAIIx	Phase_I	Q7L311	ARMX2_HUMAN			2	1639	-			428					O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.1284A>G	CCDS14490.1																																																																																				0.388	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		3	134	0	0	0	1	0	3	134					C	100911291	T	C	100911291	2	2	90	1	0	0	0	0	0	0	0	1	960	1538	54	3		3	ARMCX2	23	100911291	Silent	SNP	T	TCGA-DJ-A2PY-01A-11D-A18F-08		100911291	54359269	15	1596											
GUCA2B	2981	broad.mit.edu	37	1	42620417	42620417	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:42620417C>A	ENST00000372581.1	+	2	187	c.157C>A	c.(157-159)Ccc>Acc	p.P53T		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	53					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAGTGGGCACCCAGCCCCCG	0.647																																						uc001chc.1																			0				breast(1)|large_intestine(2)	3						c.(157-159)Ccc>Acc		Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.							45	47	47					1																	42620417		2203	4300	6503	SO:0001583	missense	2981				excretion	extracellular region	calcium sensitive guanylate cyclase activator activity	g.chr1:42620417C>A	BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"Endogenous ligands"	4683	protein-coding gene	gene with protein product	"prepro-uroguanylin"	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.157C>A	1.37:g.42620417C>A	ENSP00000361662:p.Pro53Thr		Somatic					p.P53T	NM_007102	NP_009033	WXS	Illumina GAIIx	Phase_I	Q16661	GUC2B_HUMAN			1	187	+	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	53					Q52LV0	Missense_Mutation	SNP	ENST00000372581.1	37	c.157C>A	CCDS464.1	.	.	.	.	.	.	.	.	.	.	C	7.001	0.554967	0.13436	.	.	ENSG00000044012	ENST00000372581	T	0.42513	0.97	4.78	-0.559	0.11792	.	1.516060	0.03689	N	0.246748	T	0.38506	0.1043	L	0.55743	1.74	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.23119	-1.0197	10	0.29301	T	0.29	-3.1305	7.9929	0.30250	0.0:0.4685:0.0:0.5315	.	53	Q16661	GUC2B_HUMAN	T	53	ENSP00000361662:P53T	ENSP00000361662:P53T	P	+	1	0	GUCA2B	42393004	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.004000	0.13106	-0.005000	0.14395	-0.192000	0.12808	CCC		0.647	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018307.1	NM_007102		16	34	0	0	0	1	0	16	34					A	42620417	C	A	42620417	3	1	91	1	0	0	0	0	1	0	0	0	6892	507	18	4	163	4	GUCA2B	1	42620417	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		42620417	206630204	1	1597											
HIST2H2AC	8338	broad.mit.edu	37	1	149858710	149858710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:149858710delG	ENST00000331380.2	+	1	186	c.186delG	c.(184-186)gagfs	p.E62fs	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	62						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGACCGCCGAGATCCTGGAGC	0.672																																						uc001etd.3																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(184-186)gagfs		Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA.							44	48	47					1																	149858710		2203	4300	6503	SO:0001589	frameshift_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858710delG	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.186delG	1.37:g.149858710delG	ENSP00000332194:p.Glu62fs		Somatic				HIST2H2BE_uc001etc.3_5'Flank	p.E62fs	NM_003517	NP_003508	WXS	Illumina GAIIx	Phase_I	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		0	186	+	Breast(34;0.0124)|all_hematologic(923;0.127)		62					Q6DRA7|Q8IUE5	Frame_Shift_Del	DEL	ENST00000331380.2	37	c.186delG	CCDS937.1																																																																																				0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		37	63						37	63	---	---	---	---	-	149858710	G	-	149858710	7	5	91	1	0	1	0	1	0	0	0	0	7178	933	33	0	188	0	HIST2H2AC	1	149858710	Frame_Shift_Del	DEL	G	TCGA-DJ-A2PZ-01A-21D-A18F-08	107238293	149858710	99391911	2	1598											
SYT11	23208	broad.mit.edu	37	1	155838393	155838393	+	Silent	SNP	C	C	T			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:155838393C>T	ENST00000368324.4	+	2	925	c.672C>T	c.(670-672)gaC>gaT	p.D224D	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	224	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			CTGTGTTTGACGAGACCTTCA	0.557																																						uc001fmg.3																			0		p.D224H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(670-672)gaC>gaT		Homo sapiens synaptotagmin XI (SYT11), mRNA.							105	84	91					1																	155838393		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838393C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.672C>T	1.37:g.155838393C>T			Somatic				SYT11_uc010pgq.2_Intron	p.D224D	NM_152280	NP_689493	WXS	Illumina GAIIx	Phase_I	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		1	965	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		224			C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.672C>T	CCDS1122.1																																																																																				0.557	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		19	44	0	0	0	1	0	19	44					T	155838393	C	T	155838393	2	4	91	1	0	0	0	0	0	0	0	1	15464	535	19	1		1	SYT11	1	155838393	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08	5979683	155838393	93412228	3	1599											
SIPA1L2	57568	broad.mit.edu	37	1	232629364	232629364	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr1:232629364A>G	ENST00000366630.1	-	3	1884	c.1526T>C	c.(1525-1527)gTa>gCa	p.V509A	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V509A|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	509					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGACTGCTACTGGACCAAG	0.458																																						uc001hvg.3																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1525-1527)gTa>gCa		Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.							234	233	233					1																	232629364		1942	4148	6090	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232629364A>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1526T>C	1.37:g.232629364A>G	ENSP00000355589:p.Val509Ala		Somatic					p.V509A	NM_020808	NP_065859	WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			1	1684	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	509					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1526T>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916630	0.92249	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.72942	-0.7;-0.7	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87444	0.2397	10	0.87932	D	0	-30.456	15.8615	0.79026	1.0:0.0:0.0:0.0	.	509	Q9P2F8	SI1L2_HUMAN	A	509	ENSP00000355589:V509A;ENSP00000262861:V509A	ENSP00000262861:V509A	V	-	2	0	SIPA1L2	230695987	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	9.131000	0.94446	2.333000	0.79357	0.533000	0.62120	GTA		0.458	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	304	0	0	0	1	0	5	304					G	232629364	A	G	232629364	3	3	91	1	0	0	0	0	1	0	0	0	14330	391	14	3	3722	3	SIPA1L2	1	232629364	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	76790971	232629364	16621257	4	1600											
DNAJB11	51726	broad.mit.edu	37	3	186299235	186299235	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr3:186299235A>G	ENST00000439351.1	+	6	1461	c.532A>G	c.(532-534)Acc>Gcc	p.T178A	DNAJB11_ENST00000265028.3_Missense_Mutation_p.T178A			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	178					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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GATGCGGACCACCCAGCTGGG	0.517																																						uc003fqi.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(532-534)Acc>Gcc		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.							90	89	89					3																	186299235		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186299235A>G	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.532A>G	3.37:g.186299235A>G	ENSP00000414398:p.Thr178Ala		Somatic					p.T178A	NM_016306	NP_057390	WXS	Illumina GAIIx	Phase_I	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	4	1267	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		178					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.532A>G	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848335	0.71603	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.68181	-0.31;-0.31	5.85	5.85	0.93711	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	L	0.41356	1.27	0.80722	D	1	B	0.22211	0.066	B	0.22753	0.041	T	0.53337	-0.8453	10	0.23302	T	0.38	-15.6416	14.1896	0.65630	1.0:0.0:0.0:0.0	.	178	Q9UBS4	DJB11_HUMAN	A	178	ENSP00000414398:T178A;ENSP00000265028:T178A	ENSP00000265028:T178A	T	+	1	0	DNAJB11	187781929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.222000	0.72286	0.533000	0.62120	ACC		0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			33	65	0	0	0	1	0	33	65					G	186299235	A	G	186299235	3	3	91	1	0	0	0	0	1	0	0	0	4616	159	6	3	550	3	DNAJB11	3	186299235	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08		186299235	11723195	5	1601											
ANKS1A	23294	broad.mit.edu	37	6	34985386	34985386	+	Silent	SNP	C	C	T			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:34985386C>T	ENST00000360359.3	+	11	1698	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	520					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCAGCTGCTCTGTACCGCTG	0.692																																						uc003ojx.4																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1558-1560)ctC>ctT		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.							30	34	33					6																	34985386		2202	4297	6499	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985386C>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1560C>T	6.37:g.34985386C>T			Somatic				ANKS1A_uc011dst.2_Silent_p.L60L|ANKS1A_uc010jvp.2_Intron	p.L520L	NM_015245	NP_056060	WXS	Illumina GAIIx	Phase_I	Q92625	ANS1A_HUMAN			10	1702	+			520					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1560C>T	CCDS4798.1																																																																																				0.692	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		7	35	0	0	0	1	0	7	35					T	34985386	C	T	34985386	2	4	91	1	0	0	0	0	0	0	0	1	688	900	32	2		2	ANKS1A	6	34985386	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		34985386	136129681	6	1602											
HBS1L	10767	broad.mit.edu	37	6	135314952	135314952	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr6:135314952T>C	ENST00000367837.5	-	8	1233	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	HBS1L_ENST00000445176.2_Missense_Mutation_p.M67V|HBS1L_ENST00000367824.4_Missense_Mutation_p.M179V|HBS1L_ENST00000415177.2_Missense_Mutation_p.M278V|HBS1L_ENST00000527578.1_Missense_Mutation_p.M179V|HBS1L_ENST00000367826.2_Missense_Mutation_p.M301V	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	343	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GGAGCATCCATTAATGTAATA	0.373																																						uc003qez.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1027-1029)Atg>Gtg		Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.							151	134	140					6																	135314952		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135314952T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1027A>G	6.37:g.135314952T>C	ENSP00000356811:p.Met343Val		Somatic				HBS1L_uc003qey.2_Missense_Mutation_p.M179V|HBS1L_uc011ecy.1_Missense_Mutation_p.M67V|HBS1L_uc011ecz.1_Missense_Mutation_p.M179V|HBS1L_uc011eda.1_Missense_Mutation_p.M301V	p.M343V	NM_006620	NP_006611	WXS	Illumina GAIIx	Phase_I	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	7	1234	-	Colorectal(23;0.221)		343					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1027A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730127	0.89390	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	6.07	6.07	0.98685	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	N	0.01081	-1.03	0.80722	D	1	P;P	0.48764	0.915;0.883	P;P	0.53102	0.596;0.718	T	0.65010	-0.6272	10	0.72032	D	0.01	-31.7414	16.6407	0.85098	0.0:0.0:0.0:1.0	.	301;343	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	V	343;179;278;301;179;213;67;179	ENSP00000356811:M343V;ENSP00000436256:M179V;ENSP00000389826:M278V;ENSP00000356800:M301V;ENSP00000356798:M179V;ENSP00000434533:M213V;ENSP00000415305:M67V;ENSP00000436620:M179V	ENSP00000356798:M179V	M	-	1	0	HBS1L	135356645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	ATG		0.373	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			4	34	0	0	0	1	0	4	34					C	135314952	T	C	135314952	3	2	91	1	0	0	0	0	1	0	0	0	6987	1493	52	3	1071	3	HBS1L	6	135314952	Missense_Mutation	SNP	T	TCGA-DJ-A2PZ-01A-21D-A18F-08	100329566	135314952	35800115	7	1603											
CDK13	8621	broad.mit.edu	37	7	40027812	40027812	+	Missense_Mutation	SNP	C	C	T	rs200341630		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr7:40027812C>T	ENST00000181839.4	+	2	2431	c.1826C>T	c.(1825-1827)cCg>cTg	p.P609L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P609L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	609					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACATTACCACCGTTACCTTTG	0.393																																						uc003thh.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1825-1827)cCg>cTg		Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.							103	83	90					7																	40027812		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	g.chr7:40027812C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1826C>T	7.37:g.40027812C>T	ENSP00000181839:p.Pro609Leu		Somatic				CDK13_uc003thi.4_Missense_Mutation_p.P609L|CDK13_uc011kbf.2_5'UTR	p.P609L	NM_003718	NP_003709	WXS	Illumina GAIIx	Phase_I	Q14004	CDK13_HUMAN			1	2108	+			609					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1826C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357296	0.82243	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.72942	-0.7;-0.63	6.02	6.02	0.97574	.	.	.	.	.	T	0.81626	0.4862	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.886	T	0.78244	-0.2279	8	.	.	.	-10.3062	20.5373	0.99239	0.0:1.0:0.0:0.0	.	609;609	Q14004-2;Q14004	.;CDK13_HUMAN	L	609	ENSP00000181839:P609L;ENSP00000340557:P609L	.	P	+	2	0	CDK13	39994337	0.999000	0.42202	0.977000	0.42913	0.994000	0.84299	4.438000	0.59961	2.857000	0.98124	0.650000	0.86243	CCG		0.393	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		22	47	0	0	0	1	0	22	47					T	40027812	C	T	40027812	3	4	91	1	0	0	0	0	1	0	0	0	3129	652	23	1	1832	1	CDK13	7	40027812	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		40027812	119110851	8	1604											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	47	0	0	0	1	0	18	47					T	140453136	A	T	140453136	3	4	91	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	100425324	140453136	18685527	9	1605											
METTL11A	28989	broad.mit.edu	37	9	132397704	132397704	+	Silent	SNP	C	C	G	rs151072869		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr9:132397704C>G	ENST00000372486.1	+	4	982	c.633C>G	c.(631-633)ccC>ccG	p.P211P	NTMT1_ENST00000372483.4_Silent_p.P211P|NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Silent_p.P211P|NTMT1_ENST00000482347.1_Silent_p.P123P			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	211					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGAACCTCCCCGATGAGATCT	0.627																																						uc004byd.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						c.(631-633)ccC>ccG		Homo sapiens methyltransferase like 11A (METTL11A), mRNA.																																				SO:0001819	synonymous_variant	28989				N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity	g.chr9:132397704C>G	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"chromosome 9 open reading frame 32", "methyltransferase like 11A"	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.633C>G	9.37:g.132397704C>G			Somatic				METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR	p.P211P	NM_014064	NP_054783	WXS	Illumina GAIIx	Phase_I	Q9BV86	NTM1A_HUMAN			3	827	+			211					A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	ENST00000372486.1	37	c.633C>G	CCDS35160.1																																																																																				0.627	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		3	107	0	0	0	1	0	3	107					G	132397704	C	G	132397704	2	3	91	1	0	0	0	0	0	0	0	1	9495	639	23	4		4	METTL11A	9	132397704	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		132397704	8815727	10	1606											
CADM1	23705	broad.mit.edu	37	11	115102104	115102104	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:115102104G>C	ENST00000452722.3	-	4	551	c.531C>G	c.(529-531)atC>atG	p.I177M	CADM1_ENST00000537058.1_Missense_Mutation_p.I177M|CADM1_ENST00000542447.2_Missense_Mutation_p.I177M|CADM1_ENST00000331581.6_Missense_Mutation_p.I177M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.I177M	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.I177I(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGAACCACCTGATAGTCGTGG	0.463																																						uc001ppj.4																			1	Substitution - coding silent(1)	p.I177I(2)	lung(1)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(529-531)atC>atG		Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.							251	218	230					11																	115102104		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102104G>C	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.531C>G	11.37:g.115102104G>C	ENSP00000395359:p.Ile177Met		Somatic				CADM1_uc001ppf.4_Missense_Mutation_p.I177M|CADM1_uc001ppi.4_Missense_Mutation_p.I177M|CADM1_uc001ppk.4_Missense_Mutation_p.I177M|CADM1_uc001ppl.3_Missense_Mutation_p.I177M	p.I177M	NM_014333	NP_055148	WXS	Illumina GAIIx	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	660	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	177			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000452722.3	37	c.531C>G	CCDS8373.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.05|19.05|19.05	3.752434|3.752434|3.752434	0.69533|0.69533|0.69533	.|.|.	.|.|.	ENSG00000182985|ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094|ENST00000545380|ENST00000543249	D;D;D;D;D;D;D;D|.|.	0.81659|.|.	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|.|.	6.08|6.08|6.08	4.23|4.23|4.23	0.50019|0.50019|0.50019	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.|.	0.047632|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.74906|0.74906|.	0.3778|0.3778|.	M|M|M	0.87827|0.87827|0.87827	2.91|2.91|2.91	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	D;D;D;D;D|.|.	0.71674|.|.	0.968;0.998;0.996;0.996;0.985|.|.	P;D;D;D;P|.|.	0.72982|.|.	0.751;0.962;0.959;0.979;0.883|.|.	T|T|.	0.75291|0.75291|.	-0.3369|-0.3369|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	.|.|.	7.8521|7.8521|7.8521	0.29462|0.29462|0.29462	0.1331:0.0:0.7359:0.131|0.1331:0.0:0.7359:0.131|0.1331:0.0:0.7359:0.131	.|.|.	177;177;178;177;177|.|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.|.	.;.;.;CADM1_HUMAN;.|.|.	M|E|X	177;177;177;177;136;177;30;30;144|176|161	ENSP00000439176:I177M;ENSP00000395359:I177M;ENSP00000439817:I177M;ENSP00000440322:I177M;ENSP00000329797:I177M;ENSP00000442001:I30M;ENSP00000439847:I30M;ENSP00000439696:I144M|.|.	ENSP00000329797:I177M|.|.	I|Q|S	-|-|-	3|1|2	3|0|0	CADM1|CADM1|CADM1	114607314|114607314|114607314	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.583000|0.583000|0.583000	0.28640|0.28640|0.28640	0.909000|0.909000|0.909000	0.53808|0.53808|0.53808	4.482000|4.482000|4.482000	0.60257|0.60257|0.60257	0.914000|0.914000|0.914000	0.36822|0.36822|0.36822	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAG|TCA		0.463	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		5	81	0	0	0	1	0	5	81					C	115102104	G	C	115102104	3	2	91	1	0	0	0	0	1	0	0	0	2566	1280	45	4	825	4	CADM1	11	115102104	Missense_Mutation	SNP	G	TCGA-DJ-A2PZ-01A-21D-A18F-08		115102104	19904412	11	1607											
STT3A	3703	broad.mit.edu	37	11	125479386	125479386	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr11:125479386A>C	ENST00000529196.1	+	11	1225	c.1019A>C	c.(1018-1020)aAg>aCg	p.K340T	STT3A_ENST00000392708.4_Missense_Mutation_p.K340T|STT3A_ENST00000531491.1_Missense_Mutation_p.K248T			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	340					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|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)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTATGCTAAGAACAACATC	0.473																																						uc001qcd.2																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1018-1020)aAg>aCg		Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.							224	203	210					11																	125479386		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125479386A>C	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1019A>C	11.37:g.125479386A>C	ENSP00000436962:p.Lys340Thr		Somatic				STT3A_uc009zbm.2_Missense_Mutation_p.K340T|STT3A_uc001qce.2_Missense_Mutation_p.K340T|STT3A_uc010sbg.1_Missense_Mutation_p.K248T|STT3A_uc009zbn.2_Intron	p.K340T	NM_152713	NP_689926	WXS	Illumina GAIIx	Phase_I	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	9	1129	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	340					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1019A>C	CCDS8458.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.1|24.1	4.495993|4.495993	0.85069|0.85069	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491|ENST00000526726	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.046833|.	0.85682|.	D|.	0.000000|.	T|.	0.78691|.	0.4323|.	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.992|.	D;D|.	0.66351|.	0.943;0.943|.	T|.	0.81342|.	-0.0976|.	9|.	0.37606|.	T|.	0.19|.	-14.1906|-14.1906	15.1066|15.1066	0.72326|0.72326	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	248;340|.	E9PNQ1;P46977|.	.;STT3A_HUMAN|.	T|Y	340;340;248|82	.|.	ENSP00000376472:K340T|.	K|X	+|+	2|3	0|2	STT3A|STT3A	124984596|124984596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	9.339000|9.339000	0.96797|0.96797	2.052000|2.052000	0.61016|0.61016	0.372000|0.372000	0.22366|0.22366	AAG|TAA		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		38	97	0	0	0	1	0	38	97					C	125479386	A	C	125479386	3	2	91	1	0	0	0	0	1	0	0	0	15332	72	3	5	1053	5	STT3A	11	125479386	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	10377282	125479386	9527130	12	1608											
HSPH1	10808	broad.mit.edu	37	13	31725226	31725226	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:31725226C>A	ENST00000320027.5	-	7	1110	c.766G>T	c.(766-768)Gca>Tca	p.A256S	HSPH1_ENST00000445273.2_Missense_Mutation_p.A258S|HSPH1_ENST00000380405.4_Missense_Mutation_p.A256S|HSPH1_ENST00000429785.2_Missense_Mutation_p.A75S|HSPH1_ENST00000380406.5_Missense_Mutation_p.A215S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	256					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGGATTTTGCATCCAACTTG	0.373																																						uc001utl.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(772-774)Gca>Tca		Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.							134	127	129					13																	31725226		2203	4299	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31725226C>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.766G>T	13.37:g.31725226C>A	ENSP00000318687:p.Ala256Ser		Somatic				HSPH1_uc001utj.3_Missense_Mutation_p.A256S|HSPH1_uc001utk.3_Missense_Mutation_p.A256S|HSPH1_uc010aaw.3_Missense_Mutation_p.A215S|HSPH1_uc010tds.2_Missense_Mutation_p.A180S|HSPH1_uc010tdt.1_Non-coding_Transcript	p.A258S	NM_006644	NP_006635	WXS	Illumina GAIIx	Phase_I	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	6	1043	-		Lung SC(185;0.0257)	256					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.772G>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246741	0.39697	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.01025	5.43;5.43;5.43;5.43;5.43	5.68	2.87	0.33458	.	0.403347	0.25535	N	0.030016	T	0.01156	0.0038	L	0.28556	0.865	0.35630	D	0.810169	B;B;B;B;B	0.30973	0.172;0.128;0.302;0.039;0.146	B;B;B;B;B	0.36959	0.232;0.237;0.155;0.127;0.099	T	0.58657	-0.7598	10	0.72032	D	0.01	-17.0601	8.9284	0.35655	0.0:0.6633:0.1844:0.1524	.	75;215;258;256;256	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	S	256;256;215;258;75;307	ENSP00000318687:A256S;ENSP00000369768:A256S;ENSP00000369769:A215S;ENSP00000396090:A258S;ENSP00000388778:A75S	ENSP00000318687:A256S	A	-	1	0	HSPH1	30623226	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.617000	0.46385	0.875000	0.35847	-0.218000	0.12543	GCA		0.373	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			25	48	0	0	0	1	0	25	48					A	31725226	C	A	31725226	3	1	91	1	0	0	0	0	1	0	0	0	7431	710	25	4	1858	4	HSPH1	13	31725226	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		31725226	83444652	13	1609											
F7	2155	broad.mit.edu	37	13	113768272	113768272	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr13:113768272C>T	ENST00000375581.3	+	5	463	c.428C>T	c.(427-429)aCg>aTg	p.T143M	F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Missense_Mutation_p.T121M|F7_ENST00000541084.1_Missense_Mutation_p.T74M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	143					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)	AACTGTGAGACGCGTAAGGCC	0.632																																						uc001vsv.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(427-429)aCg>aTg		Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						54	53	54					13																	113768272		2203	4300	6503	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	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113768272C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.428C>T	13.37:g.113768272C>T	ENSP00000364731:p.Thr143Met		Somatic				F7_uc010agp.1_Missense_Mutation_p.T136M|F7_uc001vsw.3_Missense_Mutation_p.T121M|F7_uc010tjt.2_Missense_Mutation_p.T74M	p.T143M	NM_000131	NP_000122	WXS	Illumina GAIIx	Phase_I	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		4	479	+	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)	143					B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.428C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	4.578	0.107327	0.08780	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.99445	-5.91;-2.11;-5.91	4.67	-7.26	0.01466	.	0.663946	0.15011	N	0.285530	D	0.98682	0.9558	M	0.80847	2.515	0.33896	D	0.637871	D;P;D;D	0.67145	0.971;0.951;0.994;0.996	P;P;P;P	0.54238	0.746;0.561;0.708;0.514	D	0.99035	1.0822	10	0.32370	T	0.25	.	7.2659	0.26229	0.4588:0.2782:0.0:0.2631	.	74;74;121;143	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	M	121;74;143	ENSP00000329546:T121M;ENSP00000442051:T74M;ENSP00000364731:T143M	ENSP00000329546:T121M	T	+	2	0	F7	112816273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.481000	0.06552	-2.293000	0.00664	-3.528000	0.00032	ACG		0.632	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		12	44	0	0	0	1	0	12	44					T	113768272	C	T	113768272	3	4	91	1	0	0	0	0	1	0	0	0	5349	536	19	1	446	1	F7	13	113768272	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08	82043046	113768272	1401606	14	1610											
SYNE2	23224	broad.mit.edu	37	14	64560157	64560157	+	Missense_Mutation	SNP	C	C	A	rs562336595		TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr14:64560157C>A	ENST00000344113.4	+	61	12279	c.12067C>A	c.(12067-12069)Cat>Aat	p.H4023N	SYNE2_ENST00000358025.3_Missense_Mutation_p.H4023N|MIR548H1_ENST00000408610.1_RNA|SYNE2_ENST00000555002.1_Missense_Mutation_p.H657N|SYNE2_ENST00000357395.3_Missense_Mutation_p.H408N|SYNE2_ENST00000394768.2_Missense_Mutation_p.H408N|SYNE2_ENST00000554584.1_Missense_Mutation_p.H4056N|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4023					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)			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)		CTCCCTTGAACATATGTCACC	0.328																																						uc001xgl.3																			0				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.(12067-12069)Cat>Aat		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							126	128	127					14																	64560157		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64560157C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12067C>A	14.37:g.64560157C>A	ENSP00000341781:p.His4023Asn		Somatic				SYNE2_uc001xgm.3_Missense_Mutation_p.H4023N|SYNE2_uc021ruh.1_Missense_Mutation_p.H4056N|SYNE2_uc010apy.3_Missense_Mutation_p.H408N|SYNE2_uc010apx.1_Missense_Mutation_p.H415N	p.H4023N	NM_182914	NP_878918	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	60	12297	+			4023					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.12067C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228899	0.22542	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.55588	0.88;4.18;0.88;0.51;4.23;4.18	5.88	1.61	0.23674	.	0.735458	0.12510	N	0.462543	T	0.31420	0.0796	N	0.17082	0.46	0.44309	D	0.997182	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.08554	-1.0716	10	0.09590	T	0.72	.	10.1291	0.42667	0.1483:0.3541:0.4976:0.0	.	408;4057;4023;4023	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	N	4023;408;4023;4056;4056;657;408	ENSP00000350719:H4023N;ENSP00000349969:H408N;ENSP00000341781:H4023N;ENSP00000452570:H4056N;ENSP00000450831:H657N;ENSP00000378249:H408N	ENSP00000261678:H4056N	H	+	1	0	SYNE2	63629910	0.075000	0.21258	0.751000	0.31187	0.995000	0.86356	-0.125000	0.10579	0.764000	0.33197	0.585000	0.79938	CAT		0.328	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	94	0	0	0	1	0	4	94					A	64560157	C	A	64560157	3	1	91	1	0	0	0	0	1	0	0	0	15443	478	17	4	12305	4	SYNE2	14	64560157	Missense_Mutation	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		64560157	42789383	15	1611											
RBBP6	5930	broad.mit.edu	37	16	24581020	24581021	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:24581020_24581021insAC	ENST00000319715.4	+	17	3441_3442	c.3009_3010insAC	c.(3010-3012)aaafs	p.K1004fs	RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.K970fs|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1004	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGTGTCTGAAAAAGACAAGAG	0.371																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3007-3012)gaaaaafs		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581020_24581021insAC		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	Exception_encountered	16.37:g.24581020_24581021insAC	ENSP00000317872:p.Lys1004fs		Somatic				RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E870fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E969fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E836fs	p.E1003fs	NM_006910	NP_008841	WXS	Illumina GAIIx	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	16	4049_4050	+			1003			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	c.3009_3010insAC	CCDS10621.1																																																																																				0.371	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		45	65						45	65	---	---	---	---	AC	24581021	-	AC	24581020	7	5	91	1	0	1	1	0	0	0	0	0	13103	11	1	0	3129	0	RBBP6	16	24581020	Frame_Shift_Ins	INS	-	TCGA-DJ-A2PZ-01A-21D-A18F-08		24581020	65773733	16	1612											
ZC3H18	124245	broad.mit.edu	37	16	88675418	88675418	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr16:88675418A>G	ENST00000301011.5	+	7	1365	c.1165A>G	c.(1165-1167)Agg>Ggg	p.R389G	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R413G	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	389						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAGAATTTCAGGGTGCAGTA	0.408																																					Ovarian(121;375 2276 20373 38669)	uc010voz.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1237-1239)Agg>Ggg		Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.							136	126	130					16																	88675418		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88675418A>G	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1165A>G	16.37:g.88675418A>G	ENSP00000301011:p.Arg389Gly		Somatic				ZC3H18_uc021tmm.1_Missense_Mutation_p.R413G|ZC3H18_uc010voy.1_Missense_Mutation_p.R272G|ZC3H18_uc002fky.3_Missense_Mutation_p.R389G|ZC3H18_uc010chw.3_5'Flank	p.R413G	NM_144604	NP_653205	WXS	Illumina GAIIx	Phase_I	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	7	1437	+			389					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1237A>G	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792308	0.50102	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.37752	1.22;1.18	5.41	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.66939	2.045	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.83275	0.996;0.99;0.996	T	0.54173	-0.8333	10	0.54805	T	0.06	-30.0361	13.302	0.60330	0.5738:0.4262:0.0:0.0	.	413;413;389	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	G	389;413;413;272	ENSP00000301011:R389G;ENSP00000416951:R413G	ENSP00000289509:R413G	R	+	1	2	ZC3H18	87202919	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	1.013000	0.29937	0.036000	0.15547	0.459000	0.35465	AGG		0.408	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		3	91	0	0	0	1	0	3	91					G	88675418	A	G	88675418	3	3	91	1	0	0	0	0	1	0	0	0	17565	179	7	3	1187	3	ZC3H18	16	88675418	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08	64094398	88675418	1679335	17	1613											
CAPNS1	826	broad.mit.edu	37	19	36637183	36637183	+	Silent	SNP	C	C	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:36637183C>A	ENST00000246533.3	+	9	1288	c.690C>A	c.(688-690)atC>atA	p.I230I	CAPNS1_ENST00000588815.1_Silent_p.I230I|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.I230I|CAPNS1_ENST00000590874.1_Silent_p.I200I|CAPNS1_ENST00000588780.1_Silent_p.I240I|CAPNS1_ENST00000589146.1_Silent_p.I56I	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	230	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACAACTTCATCAGCTGCTTGG	0.493																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	uc002odi.1																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(688-690)atC>atA		Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.							238	224	229					19																	36637183		2203	4300	6503	SO:0001819	synonymous_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36637183C>A	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.690C>A	19.37:g.36637183C>A			Somatic				CAPNS1_uc002odk.3_Silent_p.I230I|CAPNS1_uc002odj.3_Silent_p.I230I|CAPNS1_uc002odl.3_Silent_p.I230I	p.I230I	NM_001749	NP_001740	WXS	Illumina GAIIx	Phase_I	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	847	+	Esophageal squamous(110;0.162)		230			EF-hand 4.		A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	c.690C>A	CCDS12489.1																																																																																				0.493	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			91	136	0	0	0	1	0	91	136					A	36637183	C	A	36637183	2	1	91	1	0	0	0	0	0	0	0	1	2633	816	29	4		4	CAPNS1	19	36637183	Silent	SNP	C	TCGA-DJ-A2PZ-01A-21D-A18F-08		36637183	22491800	18	1614											
FCGBP	8857	broad.mit.edu	37	19	40364079	40364079	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr19:40364079G>A	ENST00000221347.6	-	31	14570	c.14563C>T	c.(14563-14565)Cgc>Tgc	p.R4855C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4855	VWFD 12. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGGCAGCGGCCACAGCCT	0.642																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14563-14565)Cgc>Tgc		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							51	50	50					19																	40364079		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364079G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14563C>T	19.37:g.40364079G>A	ENSP00000221347:p.Arg4855Cys		Somatic					p.R4855C	NM_003890	NP_003881	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	14571	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4855			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14563C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376895	0.42105	.	.	ENSG00000090920	ENST00000221347	T	0.20332	2.08	5.04	3.98	0.46160	von Willebrand factor, type D domain (2);	0.375020	0.21508	U	0.073405	T	0.37517	0.1006	M	0.67397	2.05	0.39833	D	0.973006	D	0.89917	1.0	D	0.66351	0.943	T	0.18555	-1.0333	10	0.48119	T	0.1	.	6.9341	0.24457	0.0854:0.0:0.6458:0.2688	.	4855	Q9Y6R7	FCGBP_HUMAN	C	4855	ENSP00000221347:R4855C	ENSP00000221347:R4855C	R	-	1	0	FCGBP	45055919	0.001000	0.12720	0.812000	0.32479	0.108000	0.19459	1.037000	0.30241	1.240000	0.43803	0.313000	0.20887	CGC		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		24	33	0	0	0	1	0	24	33					A	40364079	G	A	40364079	3	1	91	1	0	0	0	0	1	0	0	0	5778	1116	39	1	1678	1	FCGBP	19	40364079	Missense_Mutation	SNP	G	TCGA-DJ-A2PZ-01A-21D-A18F-08	3726896	40364079	18764904	19	1615											
NCOA3	8202	broad.mit.edu	37	20	46262900	46262900	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PZ-01A-21D-A18F-08	TCGA-DJ-A2PZ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47823436-dc3b-4dc3-ad15-923a6121bd38	84d11fd9-30d2-4915-9f09-f42b4c0f10a3	g.chr20:46262900A>G	ENST00000371998.3	+	10	1264	c.1073A>G	c.(1072-1074)aAt>aGt	p.N358S	NCOA3_ENST00000341724.6_Missense_Mutation_p.N368S|NCOA3_ENST00000372004.3_Missense_Mutation_p.N358S|NCOA3_ENST00000371997.3_Missense_Mutation_p.N368S			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	358					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCTGTAACAAATGATCGACAT	0.398																																						uc002xtk.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1072-1074)aAt>aGt		Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.							175	149	158					20																	46262900		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262900A>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1073A>G	20.37:g.46262900A>G	ENSP00000361066:p.Asn358Ser		Somatic				NCOA3_uc002xtl.3_Missense_Mutation_p.N358S|NCOA3_uc002xtn.3_Missense_Mutation_p.N358S|NCOA3_uc010ght.2_Missense_Mutation_p.N368S|NCOA3_uc002xtm.3_Missense_Mutation_p.N358S|NCOA3_uc010zyc.2_Missense_Mutation_p.N153S	p.N358S	NM_181659	NP_858045	WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			9	1334	+			358					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1073A>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.180790	0.78677	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	L	0.51422	1.61	0.53688	D	0.999976	P;D;P;P;P;P	0.89917	0.784;1.0;0.784;0.784;0.863;0.784	P;D;P;P;P;P	0.87578	0.54;0.998;0.54;0.54;0.729;0.54	T	0.02567	-1.1140	10	0.40728	T	0.16	-27.8389	16.0663	0.80878	1.0:0.0:0.0:0.0	.	358;368;362;358;358;358	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	S	358;368;358;358;368;124	ENSP00000342123:N368S;ENSP00000361073:N358S;ENSP00000361066:N358S;ENSP00000361065:N368S	ENSP00000345671:N358S	N	+	2	0	NCOA3	45696307	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.292000	0.72725	2.201000	0.70794	0.533000	0.62120	AAT		0.398	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		23	74	0	0	0	1	0	23	74					G	46262900	A	G	46262900	3	3	91	1	0	0	0	0	1	0	0	0	10230	101	4	3	1133	3	NCOA3	20	46262900	Missense_Mutation	SNP	A	TCGA-DJ-A2PZ-01A-21D-A18F-08		46262900	16762620	20	1616											
ICMT	23463	broad.mit.edu	37	1	6291980	6291980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:6291980G>T	ENST00000343813.5	-	4	682	c.654C>A	c.(652-654)taC>taA	p.Y218*		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	218					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAATACTCCAGTAAAACCACC	0.363																																						uc001amk.3																			0				NS(1)|endometrium(2)	3						c.(652-654)taC>taA		Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.							99	93	95					1																	6291980		2202	4300	6502	SO:0001587	stop_gained	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6291980G>T	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"protein-S-isoprenylcysteine O-methyltransferase"	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.654C>A	1.37:g.6291980G>T	ENSP00000343552:p.Tyr218*		Somatic				ICMT_uc001aml.3_Nonsense_Mutation_p.Y122*	p.Y218*	NM_012405	NP_036537	WXS	Illumina GAIIx	Phase_I	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	3	727	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	218					Q6FHT0	Nonsense_Mutation	SNP	ENST00000343813.5	37	c.654C>A	CCDS61.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250618	0.97412	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.92	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0643	0.64819	0.0718:0.0:0.9282:0.0	.	.	.	.	X	218;122	.	ENSP00000343552:Y218X	Y	-	3	2	ICMT	6214567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.236000	0.72339	1.509000	0.48786	0.655000	0.94253	TAC		0.363	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		14	60	0	0	0	1	0	14	60					T	6291980	G	T	6291980	4	4	92	1	0	0	0	0	0	1	0	0	7485	1024	36	4	208	4	ICMT	1	6291980	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		6291980	242958641	1	1617											
EPRS	2058	broad.mit.edu	37	1	220198558	220198558	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:220198558C>G	ENST00000366923.3	-	7	935	c.666G>C	c.(664-666)caG>caC	p.Q222H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	222	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CCTGGTAGTGCTGGTTCAGAA	0.318																																						uc001hly.1																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(664-666)caG>caC		Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						117	112	114					1																	220198558		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding	g.chr1:220198558C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.666G>C	1.37:g.220198558C>G	ENSP00000355890:p.Gln222His		Somatic				RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.Q222H|EPRS_uc009xdt.1_Missense_Mutation_p.Q23H	p.Q222H	NM_004446	NP_004437	WXS	Illumina GAIIx	Phase_I	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	6	936	-			222			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.666G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665484	0.88251	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23552	1.9	5.63	5.63	0.86233	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.55990	1.75	0.80722	D	1	D;B;D	0.71674	0.998;0.096;0.997	D;B;D	0.72625	0.978;0.051;0.962	T	0.33929	-0.9849	10	0.87932	D	0	-21.218	15.2435	0.73488	0.0:0.9306:0.0:0.0694	.	222;222;222	F5H7I7;Q3KQZ8;P07814	.;.;SYEP_HUMAN	H	222	ENSP00000355890:Q222H	ENSP00000355890:Q222H	Q	-	3	2	EPRS	218265181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.732000	0.62029	2.814000	0.96858	0.591000	0.81541	CAG		0.318	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		3	45	0	0	0	1	0	3	45					G	220198558	C	G	220198558	3	3	92	1	0	0	0	0	1	0	0	0	5191	796	28	4	3976	4	EPRS	1	220198558	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	213906578	220198558	29052063	2	1618											
RYR2	6262	broad.mit.edu	37	1	237758830	237758830	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:237758830C>A	ENST00000366574.2	+	34	4786	c.4469C>A	c.(4468-4470)gCg>gAg	p.A1490E	RYR2_ENST00000542537.1_Missense_Mutation_p.A1474E|RYR2_ENST00000360064.6_Missense_Mutation_p.A1488E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1490	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1488V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGTATGTGCGGGTGAGAGC	0.463																																						uc001hyl.1																			1	Substitution - Missense(1)	p.A1488V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4468-4470)gCg>gAg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							85	89	88					1																	237758830		2061	4190	6251	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.chr1:237758830C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4469C>A	1.37:g.237758830C>A	ENSP00000355533:p.Ala1490Glu		Somatic					p.A1490E	NM_001035	NP_001026	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4589	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1490			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4469C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182958	0.57800	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.58060	0.36;0.36;0.36	5.52	5.52	0.82312	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	T	0.66567	0.2802	L	0.56199	1.76	0.80722	D	1	D	0.64830	0.994	D	0.64506	0.926	T	0.68648	-0.5353	10	0.87932	D	0	.	14.9817	0.71316	0.0:0.8578:0.1422:0.0	.	1490	Q92736	RYR2_HUMAN	E	1490;1488;1474	ENSP00000355533:A1490E;ENSP00000353174:A1488E;ENSP00000443798:A1474E	ENSP00000353174:A1488E	A	+	2	0	RYR2	235825453	0.997000	0.39634	0.985000	0.45067	0.997000	0.91878	3.478000	0.53158	2.598000	0.87819	0.655000	0.94253	GCG		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	30	0	0	0	1	0	8	30					A	237758830	C	A	237758830	3	1	92	1	0	0	0	0	1	0	0	0	13769	768	27	4	4603	4	RYR2	1	237758830	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	17560272	237758830	11491791	3	1619											
OR14I1	401994	broad.mit.edu	37	1	248845498	248845498	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:248845498C>T	ENST00000342623.3	-	1	131	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	36			V -> A (in dbSNP:rs4462184).			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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCCCCACCAGCACTGCCAGAT	0.498																																						uc001ieu.1																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(106-108)gtG>gtA		Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.							100	85	90					1																	248845498		2203	4300	6503	SO:0001819	synonymous_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845498C>T		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.108G>A	1.37:g.248845498C>T			Somatic					p.V36V	NM_001004734	NP_001004734	WXS	Illumina GAIIx	Phase_I	A6ND48	O14I1_HUMAN			0	108	-			36		V -> A (in dbSNP:rs4462184).				Silent	SNP	ENST00000342623.3	37	c.108G>A	CCDS31125.1																																																																																				0.498	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		9	41	0	0	0	1	0	9	41					T	248845498	C	T	248845498	2	4	92	1	0	0	0	0	0	0	0	1	10947	697	25	2		2	OR14I1	1	248845498	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	11086668	248845498	405123	4	1620											
WDR33	55339	broad.mit.edu	37	2	128477839	128477839	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr2:128477839G>C	ENST00000322313.4	-	16	1918	c.1760C>G	c.(1759-1761)cCt>cGt	p.P587R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	587					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGGAAAAGGCTGGGGTCC	0.493																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1759-1761)cCt>cGt		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							93	102	99					2																	128477839		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477839G>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1760C>G	2.37:g.128477839G>C	ENSP00000325377:p.Pro587Arg		Somatic					p.P587R	NM_018383	NP_060853	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	15	1959	-	Colorectal(110;0.1)		587					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1760C>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985535	0.35036	.	.	ENSG00000136709	ENST00000322313	D	0.89196	-2.48	5.29	5.29	0.74685	.	0.213149	0.39687	N	0.001297	T	0.77592	0.4153	N	0.08118	0	0.80722	D	1	B	0.34015	0.435	B	0.28385	0.089	T	0.79584	-0.1743	10	0.51188	T	0.08	-4.1823	14.6281	0.68638	0.0:0.0:0.8537:0.1462	.	587	Q9C0J8	WDR33_HUMAN	R	587	ENSP00000325377:P587R	ENSP00000325377:P587R	P	-	2	0	WDR33	128194309	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.530000	0.53539	2.452000	0.82932	0.585000	0.79938	CCT		0.493	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		5	115	0	0	0	1	0	5	115					C	128477839	G	C	128477839	3	2	92	1	0	0	0	0	1	0	0	0	17284	1000	35	4	2278	4	WDR33	2	128477839	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		128477839	114721534	5	1621											
ZNF385D	79750	broad.mit.edu	37	3	21478657	21478657	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:21478657T>C	ENST00000281523.2	-	5	996	c.478A>G	c.(478-480)Act>Gct	p.T160A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	160	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTCCACAGTTGTCGTCGTT	0.428																																						uc003cce.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(478-480)Act>Gct		Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							151	141	144					3																	21478657		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478657T>C	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.478A>G	3.37:g.21478657T>C	ENSP00000281523:p.Thr160Ala		Somatic				ZNF385D_uc010hfb.1_Non-coding_Transcript	p.T160A	NM_024697	NP_078973	WXS	Illumina GAIIx	Phase_I	Q9H6B1	Z385D_HUMAN			4	886	-			160			Thr-rich.			Missense_Mutation	SNP	ENST00000281523.2	37	c.478A>G	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	T	9.621	1.133937	0.21123	.	.	ENSG00000151789	ENST00000281523	T	0.29917	1.55	5.64	5.64	0.86602	.	0.483859	0.22116	N	0.064401	T	0.16514	0.0397	N	0.08118	0	0.28438	N	0.916948	B	0.09022	0.002	B	0.08055	0.003	T	0.08554	-1.0716	10	0.08837	T	0.75	-19.6756	15.8342	0.78787	0.0:0.0:0.0:1.0	.	160	Q9H6B1	Z385D_HUMAN	A	160	ENSP00000281523:T160A	ENSP00000281523:T160A	T	-	1	0	ZNF385D	21453661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.454000	0.35178	2.152000	0.67230	0.460000	0.39030	ACT		0.428	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		14	65	0	0	0	1	0	14	65					C	21478657	T	C	21478657	3	2	92	1	0	0	0	0	1	0	0	0	17875	1725	60	3	725	3	ZNF385D	3	21478657	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		21478657	176543773	6	1622											
TNNC1	7134	broad.mit.edu	37	3	52485804	52485804	+	Silent	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:52485804C>G	ENST00000232975.3	-	4	327	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	91					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	CCTCAGATTTCCCTTTGCTGT	0.567																																						uc003deb.3																			0		p.G91W(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6						c.(271-273)ggG>ggC		Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)						203	146	166					3																	52485804		2203	4300	6503	SO:0001819	synonymous_variant	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52485804C>G		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"EF-hand domain containing"	11943	protein-coding gene	gene with protein product		191040	"troponin C, slow"	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.273G>C	3.37:g.52485804C>G			Somatic					p.G91G	NM_003280	NP_003271	WXS	Illumina GAIIx	Phase_I	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	3	299	-			91					O14800|P02590|P04463	Silent	SNP	ENST00000232975.3	37	c.273G>C	CCDS2857.1																																																																																				0.567	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1			4	98	0	0	0	1	0	4	98					G	52485804	C	G	52485804	2	3	92	1	0	0	0	0	0	0	0	1	16321	842	30	4		4	TNNC1	3	52485804	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	31007147	52485804	145536626	7	1623											
SLITRK3	22865	broad.mit.edu	37	3	164906055	164906055	+	Missense_Mutation	SNP	C	C	T	rs372066939		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:164906055C>T	ENST00000475390.1	-	2	3007	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G855E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	855					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						TGCCAAGTCTCCCCCAGTTCC	0.567										HNSCC(40;0.11)																												uc003fej.4																			0		p.G854A(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.(2563-2565)gGa>gAa		Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.							93	89	90					3																	164906055		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906055C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2564G>A	3.37:g.164906055C>T	ENSP00000420091:p.Gly855Glu	HNSCC(40;0.11)	Somatic				SLITRK3_uc003fek.3_Missense_Mutation_p.G855E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G855E	p.G855E	NM_014926	NP_055741	WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			1	3008	-			855					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2564G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528910	0.27387	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.59772	0.24;0.24	5.95	4.14	0.48551	.	0.000000	0.36815	N	0.002383	T	0.46483	0.1395	L	0.29908	0.895	0.44825	D	0.997838	B	0.31318	0.319	B	0.26094	0.066	T	0.45338	-0.9268	10	0.72032	D	0.01	-9.1106	15.855	0.78972	0.0:0.6163:0.3837:0.0	.	855	O94933	SLIK3_HUMAN	E	855	ENSP00000420091:G855E;ENSP00000241274:G855E	ENSP00000241274:G855E	G	-	2	0	SLITRK3	166388749	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	0.650000	0.24858	0.823000	0.34589	0.655000	0.94253	GGA		0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		48	69	0	0	0	1	0	48	69					T	164906055	C	T	164906055	3	4	92	1	0	0	0	0	1	0	0	0	14744	855	30	2	373	2	SLITRK3	3	164906055	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	112420251	164906055	33116375	8	1624											
NSUN7	79730	broad.mit.edu	37	4	40776343	40776343	+	Missense_Mutation	SNP	A	A	G	rs148671827		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr4:40776343A>G	ENST00000381782.2	+	5	1045	c.550A>G	c.(550-552)Att>Gtt	p.I184V	NSUN7_ENST00000316607.5_Missense_Mutation_p.I184V|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	184							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCCCTTTCAATTTACCACAT	0.373																																						uc003gvj.4																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(550-552)Att>Gtt		Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	111	110	110		550	5.0	1.0	4	dbSNP_134	110	0,8600		0,0,4300	no	missense	NSUN7	NM_024677.4	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	184/719	40776343	1,13005	2203	4300	6503	SO:0001583	missense	79730							g.chr4:40776343A>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.550A>G	4.37:g.40776343A>G	ENSP00000371201:p.Ile184Val		Somatic				NSUN7_uc003gvh.2_Missense_Mutation_p.I184V|NSUN7_uc003gvi.4_Missense_Mutation_p.I184V	p.I184V	NM_024677	NP_078953	WXS	Illumina GAIIx	Phase_I					4	1045	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.550A>G	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761276	0.49468	2.27E-4	0.0	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.40476	1.03;1.03	5.04	5.04	0.67666	.	0.106801	0.64402	D	0.000006	T	0.43986	0.1272	M	0.63428	1.95	0.41061	D	0.985374	P;P;B	0.49358	0.874;0.923;0.323	P;P;B	0.45794	0.493;0.47;0.227	T	0.37572	-0.9700	10	0.13470	T	0.59	-22.5473	14.7426	0.69467	1.0:0.0:0.0:0.0	.	184;184;184	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	V	184	ENSP00000371201:I184V;ENSP00000319127:I184V	ENSP00000319127:I184V	I	+	1	0	NSUN7	40471100	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.537000	0.73847	2.014000	0.59158	0.459000	0.35465	ATT		0.373	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		4	82	0	0	0	1	0	4	82					G	40776343	A	G	40776343	3	3	92	1	0	0	0	0	1	0	0	0	10683	101	4	3	564	3	NSUN7	4	40776343	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08		40776343	150377933	9	1625											
JAKMIP2	9832	broad.mit.edu	37	5	147051354	147051354	+	Nonsense_Mutation	SNP	G	G	A	rs373933909		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr5:147051354G>A	ENST00000265272.5	-	2	483	c.16C>T	c.(16-18)Cga>Tga	p.R6*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R6*|JAKMIP2_ENST00000333010.6_Intron	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	6						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTATTTCGCCCTTTCTTG	0.458																																						uc010jgo.1																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(16-18)Cga>Tga		Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.		G	stop/ARG	0,4406		0,0,2203	139	132	134		16	4.6	1.0	5		134	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	JAKMIP2	NM_014790.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		6/811	147051354	1,13005	2203	4300	6503	SO:0001587	stop_gained	9832					Golgi apparatus		g.chr5:147051354G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.16C>T	5.37:g.147051354G>A	ENSP00000265272:p.Arg6*		Somatic				JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R6*|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R6*	p.R6*	NM_014790	NP_055605	WXS	Illumina GAIIx	Phase_I	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	164	-			6					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Nonsense_Mutation	SNP	ENST00000265272.5	37	c.16C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	40	8.300251	0.98750	0.0	1.16E-4	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000539401	.	.	.	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2769	0.60191	0.0:0.0:0.8411:0.1589	.	.	.	.	X	6	.	ENSP00000265272:R6X	R	-	1	2	JAKMIP2	147031547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.186000	0.72026	2.483000	0.83821	0.555000	0.69702	CGA		0.458	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		11	47	0	0	0	1	0	11	47					A	147051354	G	A	147051354	4	1	92	1	0	0	0	0	0	1	0	0	7941	1095	38	1	2496	1	JAKMIP2	5	147051354	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		147051354	33863906	10	1626											
MCM3	4172	broad.mit.edu	37	6	52129524	52129524	+	Silent	SNP	G	G	A	rs111523955		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:52129524G>A	ENST00000229854.7	-	17	2365	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	MCM3_ENST00000419835.2_Silent_p.I717I|MCM3_ENST00000596288.1_Silent_p.I808I			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	763					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)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GATTCATGCCGATTGACTGCG	0.527																																						uc003pan.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(2287-2289)atC>atT		Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.							180	166	170					6																	52129524		2203	4300	6503	SO:0001819	synonymous_variant	4172				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|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52129524G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2289C>T	6.37:g.52129524G>A			Somatic				MCM3_uc011dwu.1_Silent_p.I717I	p.I763I	NM_002388	NP_002379	WXS	Illumina GAIIx	Phase_I	P25205	MCM3_HUMAN			16	2399	-	Lung NSC(77;0.0931)		763					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.2289C>T		.	.	.	.	.	.	.	.	.	.	G	8.299	0.819499	0.16607	.	.	ENSG00000112118	ENST00000340349;ENST00000421471	T	0.35789	1.29	5.39	2.66	0.31614	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11867	-1.0570	6	0.87932	D	0	-19.3182	5.026	0.14385	0.2594:0.536:0.1348:0.0699	.	.	.	.	W	311;309	ENSP00000407651:R309W	ENSP00000340566:R311W	R	-	1	2	MCM3	52237483	0.996000	0.38824	0.990000	0.47175	0.410000	0.31052	0.463000	0.21972	0.406000	0.25560	-0.867000	0.03001	CGG		0.527	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			70	128	0	0	0	1	0	70	128					A	52129524	G	A	52129524	2	1	92	1	0	0	0	0	0	0	0	1	9387	1048	37	1		1	MCM3	6	52129524	Silent	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		52129524	118985543	11	1627											
LAMA4	3910	broad.mit.edu	37	6	112508668	112508668	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:112508668G>C	ENST00000230538.7	-	8	1347	c.950C>G	c.(949-951)aCc>aGc	p.T317S	LAMA4_ENST00000522006.1_Missense_Mutation_p.T310S|LAMA4_ENST00000389463.4_Missense_Mutation_p.T310S|LAMA4_ENST00000424408.2_Missense_Mutation_p.T310S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	317	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGGTAGATGGTGGCGTTGAT	0.537																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(949-951)aCc>aGc		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							145	124	131					6																	112508668		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112508668G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.950C>G	6.37:g.112508668G>C	ENSP00000230538:p.Thr317Ser		Somatic				LAMA4_uc003pvv.2_Missense_Mutation_p.T310S|LAMA4_uc003pvt.2_Missense_Mutation_p.T310S	p.T317S	NM_001105206	NP_001098676	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	7	1259	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	317			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.950C>G	CCDS43491.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.30|16.30|16.30	3.083930|3.083930|3.083930	0.55861|0.55861|0.55861	.|.|.	.|.|.	ENSG00000112769|ENSG00000112769|ENSG00000112769	ENST00000521732|ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.|.|T;T;T;T;T	.|.|0.30448	.|.|3.02;3.02;3.02;3.02;1.53	5.76|5.76|5.76	5.76|5.76|5.76	0.90799|0.90799|0.90799	.|.|Laminin I (1);	.|.|0.096884	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.29716|0.29716|0.29716	0.0742|0.0742|0.0742	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;D	.|.|0.59767	.|.|0.707;0.986	.|.|B;P	.|.|0.53224	.|.|0.427;0.721	T|T|T	0.01010|0.01010|0.01010	-1.1482|-1.1482|-1.1482	5|5|10	.|.|0.16896	.|.|T	.|.|0.51	.|.|.	20.027|20.027|20.027	0.97525|0.97525|0.97525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|317;310	.|.|Q16363;Q16363-2	.|.|LAMA4_HUMAN;.	Q|A|S	129|121|317;310;310;310;317;317;310	.|.|ENSP00000230538:T317S;ENSP00000429488:T310S;ENSP00000374114:T310S;ENSP00000416470:T310S;ENSP00000430336:T317S	.|.|ENSP00000230538:T317S	H|P|T	-|-|-	3|1|2	2|0|0	LAMA4|LAMA4|LAMA4	112615361|112615361|112615361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.898000|0.898000|0.898000	0.52572|0.52572|0.52572	7.597000|7.597000|7.597000	0.82733|0.82733|0.82733	2.744000|2.744000|2.744000	0.94065|0.94065|0.94065	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	CAC|CCA|ACC		0.537	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		3	83	0	0	0	1	0	3	83					C	112508668	G	C	112508668	3	2	92	1	0	0	0	0	1	0	0	0	8608	1261	44	4	4649	4	LAMA4	6	112508668	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	60379144	112508668	58606399	12	1628											
RINT1	60561	broad.mit.edu	37	7	105190850	105190850	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:105190850G>A	ENST00000257700.2	+	9	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	417	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGTTCATGGCTATCCTGGC	0.418																																						uc003vda.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1249-1251)gGc>gAc		Homo sapiens RAD50 interactor 1 (RINT1), mRNA.							274	245	255					7																	105190850		2203	4300	6503	SO:0001583	missense	60561				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105190850G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1250G>A	7.37:g.105190850G>A	ENSP00000257700:p.Gly417Asp		Somatic				RINT1_uc010ljj.1_5'UTR	p.G417D	NM_021930	NP_068749	WXS	Illumina GAIIx	Phase_I	Q6NUQ1	RINT1_HUMAN			8	1481	+			417			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1250G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477805	0.44044	.	.	ENSG00000135249	ENST00000257700	T	0.29142	1.58	5.36	4.48	0.54585	.	0.148349	0.64402	D	0.000011	T	0.41143	0.1146	M	0.67397	2.05	0.58432	D	0.99999	P	0.37781	0.608	P	0.46685	0.524	T	0.18524	-1.0334	10	0.20519	T	0.43	-3.8483	14.5449	0.68020	0.0709:0.0:0.9291:0.0	.	417	Q6NUQ1	RINT1_HUMAN	D	417	ENSP00000257700:G417D	ENSP00000257700:G417D	G	+	2	0	RINT1	104978086	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	5.515000	0.67049	1.401000	0.46761	0.563000	0.77884	GGC		0.418	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		12	242	0	0	0	1	0	12	242					A	105190850	G	A	105190850	3	1	92	1	0	0	0	0	1	0	0	0	13376	1203	42	2	1284	2	RINT1	7	105190850	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		105190850	53947813	13	1629											
PTPRZ1	5803	broad.mit.edu	37	7	121668634	121668634	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:121668634T>G	ENST00000393386.2	+	14	5428	c.5017T>G	c.(5017-5019)Tta>Gta	p.L1673V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L813V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1673					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACACTTTTACTTAGAGGACAG	0.383																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5017-5019)Tta>Gta		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							174	149	158					7																	121668634		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121668634T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5017T>G	7.37:g.121668634T>G	ENSP00000377047:p.Leu1673Val		Somatic				PTPRZ1_uc011knt.2_Missense_Mutation_p.L813V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L813V	p.L1673V	NM_002851	NP_002842	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			13	5412	+			1673					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5017T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	3.120	-0.180751	0.06380	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.77489	0.78;-1.1	5.8	4.63	0.57726	.	0.000000	0.52532	D	0.000067	T	0.57080	0.2029	N	0.13098	0.295	0.38610	D	0.950875	P;B;B	0.43287	0.802;0.063;0.217	B;B;B	0.38428	0.273;0.031;0.189	T	0.55786	-0.8086	10	0.15066	T	0.55	.	9.1209	0.36786	0.0:0.1411:0.0:0.8589	.	812;813;1673	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1673;813	ENSP00000377047:L1673V;ENSP00000410000:L813V	ENSP00000377047:L1673V	L	+	1	2	PTPRZ1	121455870	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.704000	0.25661	1.012000	0.39366	0.528000	0.53228	TTA		0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		7	79	0	0	0	1	0	7	79					G	121668634	T	G	121668634	3	3	92	1	0	0	0	0	1	0	0	0	12814	1606	56	5	5071	5	PTPRZ1	7	121668634	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08	16477784	121668634	37470029	14	1630											
FASTK	10922	broad.mit.edu	37	7	150775088	150775088	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:150775088C>A	ENST00000297532.6	-	5	994	c.917G>T	c.(916-918)cGg>cTg	p.R306L	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Missense_Mutation_p.R279L|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.R165L|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	306					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)		CCCTGCTTCCCGAGCCAGGAT	0.577																																						uc003wix.1																			0				lung(4)|stomach(2)	6						c.(916-918)cGg>cTg		Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.							96	102	100					7																	150775088		2203	4300	6503	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.chr7:150775088C>A		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.917G>T	7.37:g.150775088C>A	ENSP00000297532:p.Arg306Leu		Somatic				AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R67L|FASTK_uc003wiy.1_Missense_Mutation_p.R165L|FASTK_uc003wiz.1_Missense_Mutation_p.R279L|FASTK_uc003wja.1_3'UTR	p.R306L	NM_006712	NP_006703	WXS	Illumina GAIIx	Phase_I	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)	4	1015	-			306					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.917G>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364575	0.41902	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.46063	0.88;0.88;0.88	5.09	4.14	0.48551	FAST kinase leucine-rich (1);	0.229900	0.30620	N	0.009234	T	0.17577	0.0422	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.24186	0.099;0.003;0.01	B;B;B	0.26614	0.071;0.008;0.008	T	0.06463	-1.0825	10	0.45353	T	0.12	-23.6467	6.6897	0.23163	0.0:0.7224:0.1823:0.0953	.	279;165;306	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	L	306;306;165;306;279	ENSP00000324817:R165L;ENSP00000297532:R306L;ENSP00000418516:R279L	ENSP00000297530:R306L	R	-	2	0	FASTK	150406021	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.868000	0.27982	2.531000	0.85337	0.650000	0.86243	CGG		0.577	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		4	181	0	0	0	1	0	4	181					A	150775088	C	A	150775088	3	1	92	1	0	0	0	0	1	0	0	0	5684	652	23	4	756	4	FASTK	7	150775088	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	29106454	150775088	8363575	15	1631											
ADCY8	114	broad.mit.edu	37	8	131848585	131848585	+	Silent	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr8:131848585C>A	ENST00000286355.5	-	12	4705	c.2613G>T	c.(2611-2613)ctG>ctT	p.L871L	ADCY8_ENST00000377928.3_Silent_p.L740L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	871					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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTCAGTGAGCAGGGCATAGA	0.557										HNSCC(32;0.087)																												uc003ytd.4																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2611-2613)ctG>ctT		Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.							165	127	140					8																	131848585		2203	4300	6503	SO:0001819	synonymous_variant	114				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 membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131848585C>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2613G>T	8.37:g.131848585C>A		HNSCC(32;0.087)	Somatic				ADCY8_uc010mds.3_Silent_p.L740L	p.L871L	NM_001115	NP_001106	WXS	Illumina GAIIx	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		11	2869	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		871						Silent	SNP	ENST00000286355.5	37	c.2613G>T	CCDS6363.1																																																																																				0.557	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			26	25	0	0	0	1	0	26	25					A	131848585	C	A	131848585	2	1	92	1	0	0	0	0	0	0	0	1	300	697	25	4		4	ADCY8	8	131848585	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		131848585	14515437	16	1632											
C10orf28	27291	broad.mit.edu	37	10	99968514	99968514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr10:99968514G>T	ENST00000298999.3	+	5	946	c.643G>T	c.(643-645)Gag>Tag	p.E215*	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.E215*	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	215							nucleotide binding (GO:0000166)										CAAGGTTTTGGAGATACTATA	0.358																																						uc001kox.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20						c.(643-645)Gag>Tag		Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.							59	61	61					10																	99968514		2203	4300	6503	SO:0001587	stop_gained	27291						nucleotide binding	g.chr10:99968514G>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.643G>T	10.37:g.99968514G>T	ENSP00000298999:p.Glu215*		Somatic				C10orf28_uc001kow.4_Nonsense_Mutation_p.E215*|C10orf28_uc001koy.4_Nonsense_Mutation_p.E215*|C10orf28_uc009xvx.3_Nonsense_Mutation_p.E215*|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	p.E215*	NM_014472	NP_055287	WXS	Illumina GAIIx	Phase_I	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	993	+		Colorectal(252;0.234)	215					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Nonsense_Mutation	SNP	ENST00000298999.3	37	c.643G>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224136	0.58668	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	.	.	.	5.56	3.71	0.42584	.	0.293965	0.29253	N	0.012689	.	.	.	.	.	.	0.21020	N	0.999807	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9428	8.471	0.32986	0.1789:0.0:0.8211:0.0	.	.	.	.	X	215	.	.	E	+	1	0	C10orf28	99958504	0.106000	0.21978	0.001000	0.08648	0.017000	0.09413	2.022000	0.41030	0.719000	0.32188	0.655000	0.94253	GAG		0.358	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		23	22	0	0	0	1	0	23	22					T	99968514	G	T	99968514	4	4	92	1	0	0	0	0	0	1	0	0	1601	1175	41	4	645	4	C10orf28	10	99968514	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		99968514	35566233	17	1633											
APBB1	322	broad.mit.edu	37	11	6422860	6422860	+	Missense_Mutation	SNP	G	G	A	rs184224900		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:6422860G>A	ENST00000609360.1	-	10	1546	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	APBB1_ENST00000299402.6_Missense_Mutation_p.R481C|APBB1_ENST00000608645.1_Missense_Mutation_p.R224C|APBB1_ENST00000608704.1_Missense_Mutation_p.R224C|APBB1_ENST00000529519.1_Missense_Mutation_p.R8C|APBB1_ENST00000609331.1_Missense_Mutation_p.R248C|APBB1_ENST00000389906.2_Missense_Mutation_p.R483C|APBB1_ENST00000530885.1_Missense_Mutation_p.R261C|APBB1_ENST00000311051.3_Missense_Mutation_p.R481C|APBB1_ENST00000608394.1_Missense_Mutation_p.R224C|APBB1_ENST00000608655.1_Missense_Mutation_p.R263C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	483	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCTCACAGCGAAACACGTGG	0.577													G|||	1	0.000199681	0	0.0014	5008	,	,		19191	0		0	False		,,,				2504	0				GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0		p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1441-1443)Cgc>Tgc		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.							178	124	142					11																	6422860		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422860G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1447C>T	11.37:g.6422860G>A	ENSP00000477213:p.Arg483Cys		Somatic				APBB1_uc001mdd.3_Missense_Mutation_p.R261C|APBB1_uc001mdc.1_Missense_Mutation_p.R481C|APBB1_uc010rab.2_Missense_Mutation_p.R8C|APBB1_uc010rad.2_Missense_Mutation_p.R200C	p.R481C	NM_001164	NP_001155	WXS	Illumina GAIIx	Phase_I	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	8	1541	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	483			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1441C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.68	3.872086	0.72180	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.15	4.15	0.48705	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.40956	0.1138	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.982;0.993;0.997	D;P;P;P	0.91635	0.999;0.614;0.78;0.828	T	0.26744	-1.0094	10	0.72032	D	0.01	-9.0566	9.2222	0.37384	0.0:0.0:0.7838:0.2162	.	86;483;261;481	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	C	481;481;483;332;224;248;261;222	ENSP00000299402:R481C;ENSP00000311912:R481C;ENSP00000374556:R483C;ENSP00000433338:R261C;ENSP00000437114:R222C	ENSP00000299402:R481C	R	-	1	0	APBB1	6379436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.409000	0.80053	2.137000	0.66172	0.591000	0.81541	CGC		0.577	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		7	84	0	0	0	1	0	7	84					A	6422860	G	A	6422860	3	1	92	1	0	0	0	0	1	0	0	0	759	1058	37	1	709	1	APBB1	11	6422860	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		6422860	128583656	18	1634											
EED	8726	broad.mit.edu	37	11	85977149	85977149	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:85977149A>G	ENST00000263360.6	+	8	1437	c.751A>G	c.(751-753)Ata>Gta	p.I251V	EED_ENST00000351625.6_Missense_Mutation_p.I251V|EED_ENST00000327320.4_Missense_Mutation_p.I251V|EED_ENST00000528180.1_Intron	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	251	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGGTGAAAAAATAATGTCCTG	0.284																																						uc001pbr.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(751-753)Ata>Gta		Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.							84	93	90					11																	85977149		2202	4293	6495	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85977149A>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.751A>G	11.37:g.85977149A>G	ENSP00000263360:p.Ile251Val		Somatic				EED_uc010rtm.2_Missense_Mutation_p.I251V|EED_uc001pbp.3_Missense_Mutation_p.I251V|EED_uc001pbq.3_Missense_Mutation_p.I251V|EED_uc010rtn.1_Non-coding_Transcript	p.I251V	NM_003797	NP_003788	WXS	Illumina GAIIx	Phase_I	O75530	EED_HUMAN			7	1217	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	251			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.751A>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177282	0.57692	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228	T;T;T	0.61392	1.52;1.52;0.11	5.36	5.36	0.76844	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	0.58566	0.2131	L	0.28649	0.875	0.80722	D	1	B;P;B	0.39862	0.253;0.692;0.079	B;P;B	0.51266	0.121;0.664;0.112	T	0.55179	-0.8181	9	.	.	.	-14.8347	15.658	0.77158	1.0:0.0:0.0:0.0	.	251;251;251	O75530-3;O75530-2;O75530	.;.;EED_HUMAN	V	251;251;251;44	ENSP00000263360:I251V;ENSP00000338186:I251V;ENSP00000315587:I251V	.	I	+	1	0	EED	85654797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.114000	0.94329	2.158000	0.67659	0.460000	0.39030	ATA		0.284	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		5	86	0	0	0	1	0	5	86					G	85977149	A	G	85977149	3	3	92	1	0	0	0	0	1	0	0	0	4922	101	4	3	781	3	EED	11	85977149	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08	79554289	85977149	49029367	19	1635											
ST8SIA1	6489	broad.mit.edu	37	12	22487009	22487009	+	Missense_Mutation	SNP	T	T	C	rs199598750		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:22487009T>C	ENST00000396037.4	-	1	639	c.158A>G	c.(157-159)aAc>aGc	p.N53S	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.N53S|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.N53S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	53					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CTCTTTCTCGTTGGGCAGCCG	0.662																																						uc001rfo.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(157-159)aAc>aGc		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.		T	SER/ASN	0,4406		0,0,2203	87	84	85		158	4.3	1.0	12		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST8SIA1	NM_003034.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	53/357	22487009	1,13005	2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487009T>C	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.158A>G	12.37:g.22487009T>C	ENSP00000379353:p.Asn53Ser		Somatic				ST8SIA1_uc009zix.3_5'UTR	p.N53S	NM_003034	NP_003025	WXS	Illumina GAIIx	Phase_I	Q92185	SIA8A_HUMAN			0	640	-			53					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.158A>G	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	T	5.178	0.218492	0.09810	0.0	1.16E-4	ENSG00000111728	ENST00000396037;ENST00000541868;ENST00000404299;ENST00000381424	T;T	0.41400	1.99;1.0	4.26	4.26	0.50523	.	0.576822	0.19756	N	0.106763	T	0.29190	0.0726	N	0.25647	0.755	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.06917	-1.0800	10	0.27785	T	0.31	-2.4114	11.5322	0.50616	0.0:0.0:0.0:1.0	.	53	Q92185	SIA8A_HUMAN	S	53;30;53;53	ENSP00000379353:N53S;ENSP00000440292:N30S	ENSP00000261197:N53S	N	-	2	0	ST8SIA1	22378276	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	2.263000	0.43293	1.887000	0.54652	0.460000	0.39030	AAC		0.662	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		4	130	0	0	0	1	0	4	130					C	22487009	T	C	22487009	3	2	92	1	0	0	0	0	1	0	0	0	15230	1725	60	3	932	3	ST8SIA1	12	22487009	Missense_Mutation	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		22487009	111364886	20	1636											
AQP6	363	broad.mit.edu	37	12	50367285	50367285	+	Missense_Mutation	SNP	G	G	A	rs370418802		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:50367285G>A	ENST00000315520.5	+	1	666	c.329G>A	c.(328-330)gGg>gAg	p.G110E	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	110					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CAGCTGGTGGGGGCCACGGTG	0.677																																						uc001rvr.1																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(328-330)gGg>gAg		Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.		G	GLU/GLY	0,4402		0,0,2201	21	21	21		329	4.6	1.0	12		21	1,8597		0,1,4298	no	missense	AQP6	NM_001652.3	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	110/283	50367285	1,12999	2201	4299	6500	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367285G>A	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"Ion channels / Aquaporins"	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.329G>A	12.37:g.50367285G>A	ENSP00000320247:p.Gly110Glu		Somatic				AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	p.G110E	NM_001652	NP_001643	WXS	Illumina GAIIx	Phase_I	Q13520	AQP6_HUMAN			0	1022	+			110						Missense_Mutation	SNP	ENST00000315520.5	37	c.329G>A	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608024	0.87258	0.0	1.16E-4	ENSG00000086159	ENST00000315520	D	0.99259	-5.64	4.57	4.57	0.56435	Aquaporin-like (2);	0.109604	0.37304	N	0.002147	D	0.99760	0.9903	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96558	0.9413	10	0.87932	D	0	-11.6261	16.4987	0.84252	0.0:0.0:1.0:0.0	.	110	Q13520	AQP6_HUMAN	E	110	ENSP00000320247:G110E	ENSP00000320247:G110E	G	+	2	0	AQP6	48653552	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	9.476000	0.97823	2.260000	0.74910	0.491000	0.48974	GGG		0.677	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		7	29	0	0	0	1	0	7	29					A	50367285	G	A	50367285	3	1	92	1	0	0	0	0	1	0	0	0	830	1232	43	2	331	2	AQP6	12	50367285	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	27880276	50367285	83484610	21	1637											
FSCB	84075	broad.mit.edu	37	14	44973729	44973729	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr14:44973729C>T	ENST00000340446.4	-	1	2753	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	821						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCAGGAGGACGTTGTTTTAA	0.388																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2461-2463)cGt>cAt		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							56	60	59					14																	44973729		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44973729C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2462G>A	14.37:g.44973729C>T	ENSP00000344579:p.Arg821His		Somatic					p.R821H	NM_032135	NP_115511	WXS	Illumina GAIIx	Phase_I	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	2771	-			821					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2462G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043629	0.36085	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15952	2.38	4.23	-2.83	0.05769	.	.	.	.	.	T	0.08492	0.0211	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36529	-0.9744	9	0.87932	D	0	4.2172	0.1932	0.00137	0.2638:0.2604:0.2194:0.2563	.	821	Q5H9T9	FSCB_HUMAN	H	821;714	ENSP00000344579:R821H	ENSP00000344579:R821H	R	-	2	0	FSCB	44043479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.540000	0.06106	-0.712000	0.04988	-3.305000	0.00045	CGT		0.388	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		4	52	0	0	0	1	0	4	52					T	44973729	C	T	44973729	3	4	92	1	0	0	0	0	1	0	0	0	6066	536	19	1	19	1	FSCB	14	44973729	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		44973729	62375811	22	1638											
CASC4	113201	broad.mit.edu	37	15	44581275	44581275	+	Silent	SNP	C	C	T	rs372220445		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr15:44581275C>T	ENST00000345795.2	+	1	318	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000299957.6_Silent_p.L16L|CASC4_ENST00000360824.3_Silent_p.L16L	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	16						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGCCCTCTCTCGTGCTGGTGG	0.677																																						uc001ztp.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(46-48)ctC>ctT		Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.		C	,	1,4395		0,1,2197	48	48	48		48,48	-1.1	1.0	15		48	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CASC4	NM_138423.3,NM_177974.2	,	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	,	16/437,16/381	44581275	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	113201					integral to membrane		g.chr15:44581275C>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.48C>T	15.37:g.44581275C>T			Somatic				CASC4_uc001ztq.3_Silent_p.L16L|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Silent_p.L16L	p.L16L	NM_138423	NP_612432	WXS	Illumina GAIIx	Phase_I	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	0	367	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	16					B4DPZ6|G5E934|Q6UY45|Q96EM1	Silent	SNP	ENST00000345795.2	37	c.48C>T	CCDS10109.1																																																																																				0.677	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		42	58	0	0	0	1	0	42	58					T	44581275	C	T	44581275	2	4	92	1	0	0	0	0	0	0	0	1	2662	871	31	1		1	CASC4	15	44581275	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		44581275	57950117	23	1639											
CES7	221223	broad.mit.edu	37	16	55886942	55886942	+	Splice_Site	SNP	T	T	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:55886942T>A	ENST00000290567.9	-	10	1247		c.e10-2		CES5A_ENST00000541580.1_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000520435.1_Splice_Site|CES5A_ENST00000521992.1_Splice_Site	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGGGATGTGCTGTAAAAATAT	0.458																																						uc021tir.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.e11-1		Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.							95	89	91					16																	55886942		2198	4300	6498	SO:0001630	splice_region_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55886942T>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1126-2A>T	16.37:g.55886942T>A			Somatic				CES5A_uc002eip.2_Splice_Site_p.H376_splice|CES5A_uc002eio.2_Splice_Site_p.H376_splice|CES5A_uc002eiq.2_Splice_Site_p.H137_splice|CES5A_uc002eir.2_Splice_Site_p.H270_splice	p.H405_splice	NM_001190158	NP_001177087	WXS	Illumina GAIIx	Phase_I	Q6NT32	EST5A_HUMAN			11	1359	-			376					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	ENST00000290567.9	37	c.1213_splice	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337228	0.41398	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.094	0.59180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CES5A	54444443	0.999000	0.42202	0.642000	0.29436	0.014000	0.08584	4.226000	0.58606	1.980000	0.57719	0.369000	0.22263	.		0.458	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Intron	5	78	0	0	0	1	0	5	78					A	55886942	T	A	55886942	5	1	92	1	0	0	0	0	0	0	1	0	3272	1594	55	5	619	5	CES7	16	55886942	Splice_Site	SNP	T	TCGA-DJ-A2Q0-01A-11D-A202-08		55886942	34467811	24	1640											
AP1G1	164	broad.mit.edu	37	16	71768593	71768593	+	Silent	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:71768593G>C	ENST00000299980.4	-	22	2727	c.2286C>G	c.(2284-2286)ctC>ctG	p.L762L	AP1G1_ENST00000433195.2_Silent_p.L785L|AP1G1_ENST00000423132.2_Silent_p.L765L|AP1G1_ENST00000564155.1_Silent_p.L187L|AP1G1_ENST00000569748.1_Silent_p.L762L|AP1G1_ENST00000393512.3_Silent_p.L765L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	762	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAGGAGACAAGAGCTGCAGCT	0.463																																						uc002fbb.3																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(2353-2355)ctC>ctG		Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.							183	181	182					16																	71768593		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71768593G>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2286C>G	16.37:g.71768593G>C			Somatic				AP1G1_uc021tkz.1_Silent_p.L550L|AP1G1_uc010cgg.3_Silent_p.L762L|AP1G1_uc002faz.3_Silent_p.L179L|AP1G1_uc021tky.1_Silent_p.L765L	p.L785L	NM_001128	NP_001119	WXS	Illumina GAIIx	Phase_I	O43747	AP1G1_HUMAN			24	3166	-		Ovarian(137;0.125)	762			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.2355C>G	CCDS32480.1																																																																																				0.463	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			15	316	0	0	0	1	0	15	316					C	71768593	G	C	71768593	2	2	92	1	0	0	0	0	0	0	0	1	732	929	33	4		4	AP1G1	16	71768593	Silent	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	15881651	71768593	18586160	25	1641											
OTOP2	92736	broad.mit.edu	37	17	72926756	72926756	+	Silent	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:72926756C>A	ENST00000580223.1	+	5	1056	c.1026C>A	c.(1024-1026)gtC>gtA	p.V342V	OTOP2_ENST00000331427.4_Silent_p.V342V			Q7RTS6	OTOP2_HUMAN	otopetrin 2	342						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCTTGGTCAGCCTGAGCG	0.612																																						uc010wrp.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(1024-1026)gtC>gtA		Homo sapiens otopetrin 2 (OTOP2), mRNA.							55	51	52					17																	72926756		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926756C>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1026C>A	17.37:g.72926756C>A			Somatic					p.V342V	NM_178160	NP_835454	WXS	Illumina GAIIx	Phase_I	Q7RTS6	OTOP2_HUMAN			5	1118	+	all_lung(278;0.172)|Lung NSC(278;0.207)		342						Silent	SNP	ENST00000580223.1	37	c.1026C>A	CCDS11708.1																																																																																				0.612	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		15	55	0	0	0	1	0	15	55					A	72926756	C	A	72926756	2	1	92	1	0	0	0	0	0	0	0	1	11306	813	29	4		4	OTOP2	17	72926756	Silent	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		72926756	8268454	26	1642											
FOXK2	3607	broad.mit.edu	37	17	80544992	80544992	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:80544992C>T	ENST00000335255.5	+	8	1804	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	544					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACTGCCAGCCGGATCATTCA	0.488																																						uc002kfn.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1630-1632)Cgg>Tgg		Homo sapiens forkhead box K2 (FOXK2), mRNA.							84	79	81					17																	80544992		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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.chr17:80544992C>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1630C>T	17.37:g.80544992C>T	ENSP00000335677:p.Arg544Trp		Somatic				FOXK2_uc002kfm.1_Missense_Mutation_p.R544W|FOXK2_uc010diu.3_Intron	p.R544W	NM_004514	NP_004505	WXS	Illumina GAIIx	Phase_I	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		7	1801	+	Breast(20;0.00106)|all_neural(118;0.0952)		544					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.1630C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735131	0.69189	.	.	ENSG00000141568	ENST00000535184;ENST00000335255	D	0.95918	-3.85	5.18	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	L	0.43923	1.385	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.77557	0.977;0.99	D	0.95235	0.8346	10	0.37606	T	0.19	.	13.9329	0.64007	0.0:0.927:0.0:0.073	.	544;544	Q01167;Q01167-2	FOXK2_HUMAN;.	W	540;544	ENSP00000335677:R544W	ENSP00000335677:R544W	R	+	1	2	FOXK2	78138281	1.000000	0.71417	0.883000	0.34634	0.443000	0.32047	5.238000	0.65366	1.407000	0.46875	0.655000	0.94253	CGG		0.488	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		43	82	0	0	0	1	0	43	82					T	80544992	C	T	80544992	3	4	92	1	0	0	0	0	1	0	0	0	6015	643	23	1	1660	1	FOXK2	17	80544992	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08	7618236	80544992	650218	27	1643											
GNAL	2774	broad.mit.edu	37	18	11752905	11752905	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr18:11752905G>A	ENST00000423027.3	+	2	520	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	GNAL_ENST00000535121.1_Missense_Mutation_p.V67I|GNAL_ENST00000334049.6_Missense_Mutation_p.V144I|GNAL_ENST00000269162.5_Missense_Mutation_p.V67I|GNAL_ENST00000590972.1_3'UTR			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	67					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GATCCTGCACGTCAATGGGTT	0.468																																						uc002kqc.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(430-432)Gtc>Atc		Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.							160	140	147					18																	11752905		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity	g.chr18:11752905G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.199G>A	18.37:g.11752905G>A	ENSP00000408489:p.Val67Ile		Somatic				GNAL_uc002kqd.2_Missense_Mutation_p.V67I|GNAL_uc010dkz.2_Missense_Mutation_p.V67I	p.V144I	NM_182978	NP_892023	WXS	Illumina GAIIx	Phase_I	P38405	GNAL_HUMAN			1	857	+			67					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.430G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681490	0.68042	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.17	5.17	0.71159	G protein alpha subunit, helical insertion (1);	0.113555	0.64402	D	0.000014	D	0.86510	0.5950	L	0.42686	1.345	0.80722	D	1	B;B	0.16603	0.018;0.011	B;B	0.17433	0.018;0.013	T	0.82566	-0.0393	10	0.56958	D	0.05	.	18.8613	0.92273	0.0:0.0:1.0:0.0	.	67;144	P38405;Q86XU3	GNAL_HUMAN;.	I	6;144;67;67;67	ENSP00000334051:V144I;ENSP00000439023:V67I;ENSP00000269162:V67I;ENSP00000408489:V67I	ENSP00000269162:V67I	V	+	1	0	GNAL	11742905	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	9.150000	0.94667	2.672000	0.90937	0.563000	0.77884	GTC		0.468	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		14	22	0	0	0	1	0	14	22					A	11752905	G	A	11752905	3	1	92	1	0	0	0	0	1	0	0	0	6507	1145	40	1	585	1	GNAL	18	11752905	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		11752905	66324343	28	1644											
CYP2A13	1553	broad.mit.edu	37	19	41594528	41594528	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:41594528C>G	ENST00000330436.3	+	1	152	c.152C>G	c.(151-153)aCa>aGa	p.T51R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	51					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)	CAGCTGAACACAGAGCAGATG	0.602																																						uc002opt.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(151-153)aCa>aGa		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)						100	89	93					19																	41594528		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.chr19:41594528C>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.152C>G	19.37:g.41594528C>G	ENSP00000332679:p.Thr51Arg		Somatic					p.T51R	NM_000766	NP_000757	WXS	Illumina GAIIx	Phase_I	Q16696	CP2AD_HUMAN			0	161	+			51					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.152C>G	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.488059	0.26686	.	.	ENSG00000197838	ENST00000330436	T	0.67698	-0.28	3.43	1.13	0.20643	.	0.384091	0.26062	U	0.026574	T	0.48409	0.1498	N	0.03917	-0.325	0.21652	N	0.999605	P	0.52463	0.953	P	0.58577	0.841	T	0.41070	-0.9529	10	0.20519	T	0.43	.	4.0105	0.09621	0.0:0.5723:0.1974:0.2303	.	51	Q16696	CP2AD_HUMAN	R	51	ENSP00000332679:T51R	ENSP00000332679:T51R	T	+	2	0	CYP2A13	46286368	0.000000	0.05858	0.535000	0.28026	0.944000	0.59088	-0.078000	0.11375	0.247000	0.21414	0.444000	0.29173	ACA		0.602	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		11	121	0	0	0	1	0	11	121					G	41594528	C	G	41594528	3	3	92	1	0	0	0	0	1	0	0	0	4161	478	17	4	154	4	CYP2A13	19	41594528	Missense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		41594528	17534455	29	1645											
IGFL4	444882	broad.mit.edu	37	19	46543657	46543657	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:46543657A>G	ENST00000377697.1	-	3	141	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	IGFL4_ENST00000595006.1_5'UTR|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	30						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCTGGCATAGCCACAGT	0.602																																						uc002pdy.1																			0				cervix(1)|kidney(1)|lung(1)	3						c.(88-90)Tgc>Cgc		Homo sapiens IGF-like family member 4 (IGFL4), mRNA.							86	77	80					19																	46543657		2203	4300	6503	SO:0001583	missense	444882					extracellular region		g.chr19:46543657A>G	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.88T>C	19.37:g.46543657A>G	ENSP00000366926:p.Cys30Arg		Somatic					p.C30R	NM_001002923	NP_001002923	WXS	Illumina GAIIx	Phase_I	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	2	142	-		all_neural(266;0.113)|Ovarian(192;0.127)	30						Missense_Mutation	SNP	ENST00000377697.1	37	c.88T>C	CCDS33057.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396001	0.42512	.	.	ENSG00000204869	ENST00000377697	T	0.60424	0.19	2.29	1.22	0.21188	.	0.000000	0.35772	U	0.002998	T	0.55242	0.1908	L	0.42245	1.32	0.09310	N	0.999999	D	0.65815	0.995	P	0.55011	0.766	T	0.47420	-0.9119	10	0.87932	D	0	.	5.4081	0.16332	0.706:0.294:0.0:0.0	.	30	Q6B9Z1	IGFL4_HUMAN	R	30	ENSP00000366926:C30R	ENSP00000366926:C30R	C	-	1	0	IGFL4	51235497	0.000000	0.05858	0.001000	0.08648	0.567000	0.35839	0.493000	0.22451	0.327000	0.23409	0.314000	0.21332	TGC		0.602	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1	NM_001002923		4	91	0	0	0	1	0	4	91					G	46543657	A	G	46543657	3	3	92	1	0	0	0	0	1	0	0	0	7589	217	8	3	294	3	IGFL4	19	46543657	Missense_Mutation	SNP	A	TCGA-DJ-A2Q0-01A-11D-A202-08	4949129	46543657	12585326	30	1646											
DEFB118	117285	broad.mit.edu	37	20	29960791	29960791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:29960791C>T	ENST00000253381.2	+	2	223	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	64					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCACAGGCGAGTTCCTGC	0.438																																						uc002wvr.3																			0		p.R64L(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(190-192)Cga>Tga		Homo sapiens defensin, beta 118 (DEFB118), mRNA.							152	134	140					20																	29960791		2203	4300	6503	SO:0001587	stop_gained	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960791C>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.190C>T	20.37:g.29960791C>T	ENSP00000253381:p.Arg64*		Somatic					p.R64*	NM_054112	NP_473453	WXS	Illumina GAIIx	Phase_I	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	223	+	all_hematologic(12;0.158)		64					Q17RC4|Q8N691|Q9NUH0	Nonsense_Mutation	SNP	ENST00000253381.2	37	c.190C>T	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013563	0.19277	.	.	ENSG00000131068	ENST00000253381	.	.	.	3.43	-6.22	0.02058	.	10.118000	0.00357	N	0.000026	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5569	1.8142	0.03097	0.1278:0.2744:0.3591:0.2388	.	.	.	.	X	64	.	ENSP00000253381:R64X	R	+	1	2	DEFB118	29424452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.214000	0.09292	-1.399000	0.02063	-0.181000	0.13052	CGA		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		9	110	0	0	0	1	0	9	110					T	29960791	C	T	29960791	4	4	92	1	0	0	0	0	0	1	0	0	4406	760	27	1	196	1	DEFB118	20	29960791	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q0-01A-11D-A202-08		29960791	33064729	31	1647											
LAMA5	3911	broad.mit.edu	37	20	60887079	60887079	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:60887079G>C	ENST00000252999.3	-	70	9598	c.9532C>G	c.(9532-9534)Cag>Gag	p.Q3178E	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3178	Laminin G-like 3. {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)			ACACGGCCCTGCTGCAGGGAC	0.637																																						uc002ycq.3																			0				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						c.(9532-9534)Cag>Gag		Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50	53	52					20																	60887079		2202	4297	6499	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887079G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9532C>G	20.37:g.60887079G>C	ENSP00000252999:p.Gln3178Glu		Somatic				LAMA5_uc021wfw.1_Missense_Mutation_p.Q3178E	p.Q3178E	NM_005560	NP_005551	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		69	9599	-	Breast(26;1.57e-08)		3178			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9532C>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	0.695	-0.793071	0.02862	.	.	ENSG00000130702	ENST00000252999	T	0.39592	1.07	4.1	3.12	0.35913	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.719801	0.13824	N	0.360196	T	0.24774	0.0601	L	0.31294	0.92	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.29058	-1.0024	10	0.02654	T	1	.	8.1774	0.31289	0.0:0.1527:0.6291:0.2182	.	3178	O15230	LAMA5_HUMAN	E	3178	ENSP00000252999:Q3178E	ENSP00000252999:Q3178E	Q	-	1	0	LAMA5	60320474	0.000000	0.05858	0.889000	0.34880	0.076000	0.17211	0.103000	0.15292	0.894000	0.36317	0.556000	0.70494	CAG		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		20	51	0	0	0	1	0	20	51					C	60887079	G	C	60887079	3	2	92	1	0	0	0	0	1	0	0	0	8609	1328	46	4	1599	4	LAMA5	20	60887079	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08	30926288	60887079	2138441	32	1648											
ARHGAP36	158763	broad.mit.edu	37	X	130217771	130217771	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:130217771G>A	ENST00000276211.5	+	4	728	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R116H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	128					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTACCCGCCGCAAGCATCTT	0.562																																						uc004evz.3																			0		p.R128C(2)|p.R127S(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(382-384)cGc>cAc		Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.							133	131	131					X																	130217771		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217771G>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.383G>A	X.37:g.130217771G>A	ENSP00000276211:p.Arg128His		Somatic				ARHGAP36_uc004ewa.3_Missense_Mutation_p.R116H|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R97H|ARHGAP36_uc004ewc.3_5'UTR	p.R128H	NM_144967	NP_659404	WXS	Illumina GAIIx	Phase_I	Q6ZRI8	RHG36_HUMAN			3	728	+			128					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.383G>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056780	0.36277	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.12984	2.63;2.63;2.66	4.3	4.3	0.51218	.	0.137816	0.34156	N	0.004215	T	0.10078	0.0247	N	0.24115	0.695	0.80722	D	1	P;P;P	0.50710	0.856;0.938;0.898	B;B;B	0.41723	0.365;0.365;0.201	T	0.03662	-1.1015	10	0.72032	D	0.01	.	11.0712	0.48004	0.0:0.0:1.0:0.0	.	97;116;128	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	128;116;80;97	ENSP00000276211:R128H;ENSP00000359960:R116H;ENSP00000408515:R97H	ENSP00000276211:R128H	R	+	2	0	ARHGAP36	130045452	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	3.734000	0.55037	2.380000	0.81148	0.600000	0.82982	CGC		0.562	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		36	168	0	0	0	1	0	36	168					A	130217771	G	A	130217771	3	1	92	1	0	0	0	0	1	0	0	0	883	1087	38	1	393	1	ARHGAP36	23	130217771	Missense_Mutation	SNP	G	TCGA-DJ-A2Q0-01A-11D-A202-08		130217771	25052789	33	1649											
TRIP12	9320	broad.mit.edu	37	2	230664036	230664036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr2:230664036G>T	ENST00000283943.5	-	21	3223	c.3045C>A	c.(3043-3045)taC>taA	p.Y1015*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Y1063*|TRIP12_ENST00000543084.1_Missense_Mutation_p.L342I|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Y745*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1015					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.Y1015*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGGAGGTGAGTACTTTGGCC	0.428																																						uc002vpx.1																			1	Substitution - Nonsense(1)	p.Y1015*(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3187-3189)taC>taA		Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.							196	178	184					2																	230664036		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230664036G>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3045C>A	2.37:g.230664036G>T	ENSP00000283943:p.Tyr1015*		Somatic				TRIP12_uc021vxw.1_Nonsense_Mutation_p.Y1048*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.Y745*|TRIP12_uc002vpw.1_Nonsense_Mutation_p.Y1015*|TRIP12_uc010zlz.1_Non-coding_Transcript	p.Y1063*	NM_004238	NP_004229	WXS	Illumina GAIIx	Phase_I	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	21	3298	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1015					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.3189C>A	CCDS33391.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.136639|8.136639	0.98672|0.98672	.|.	.|.	ENSG00000153827|ENSG00000153827	ENST00000543084|ENST00000283943;ENST00000389045;ENST00000389044	.|.	.|.	.|.	5.0|5.0	0.677|0.677	0.17964|0.17964	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.42245|.	0.1194|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36866|.	-0.9730|.	5|.	0.87932|0.54805	D|T	0|0.06	.|.	10.3439|10.3439	0.43895|0.43895	0.6729:0.0:0.3271:0.0|0.6729:0.0:0.3271:0.0	.|.	.|.	.|.	.|.	I|X	342|1015;745;1063	.|.	ENSP00000440715:L342I|ENSP00000283943:Y1015X	L|Y	-|-	1|3	0|2	TRIP12|TRIP12	230372280|230372280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.825000|0.825000	0.27393|0.27393	0.099000|0.099000	0.17552|0.17552	0.591000|0.591000	0.81541|0.81541	CTC|TAC		0.428	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		18	77	0	0	0	1	0	18	77					T	230664036	G	T	230664036	4	4	93	1	0	0	0	0	0	1	0	0	16553	1024	36	4	3017	4	TRIP12	2	230664036	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		230664036	12535337	1	1650											
ATR	545	broad.mit.edu	37	3	142278216	142278216	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr3:142278216A>G	ENST00000350721.4	-	7	1730	c.1609T>C	c.(1609-1611)Ttg>Ctg	p.L537L	ATR_ENST00000383101.3_Silent_p.L473L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	537					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAAAAATCCAATGACATCCAA	0.363								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1609-1611)Ttg>Ctg	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							99	96	97					3																	142278216		2203	4300	6503	SO:0001819	synonymous_variant	545				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142278216A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1609T>C	3.37:g.142278216A>G			Somatic					p.L537L	NM_001184	NP_001175	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			6	1731	-			537					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.1609T>C	CCDS3124.1																																																																																				0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		20	34	0	0	0	1	0	20	34					G	142278216	A	G	142278216	2	3	93	1	0	0	0	0	0	0	0	1	1204	98	4	3		3	ATR	3	142278216	Silent	SNP	A	TCGA-DJ-A2Q1-01A-22D-A19J-08		142278216	55744214	2	1651											
DYNC1I1	1780	broad.mit.edu	37	7	95442507	95442507	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr7:95442507G>A	ENST00000324972.6	+	4	416		c.e4-1		DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000457059.1_Intron|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000447467.2_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTCTTCACCAGTGCAGCCGCT	0.413																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.e4-1		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							107	110	109					7																	95442507		2203	4300	6503	SO:0001630	splice_region_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442507G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.224-1G>A	7.37:g.95442507G>A			Somatic				DYNC1I1_uc003uod.4_Intron|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Splice_Site_p.V75_splice|DYNC1I1_uc010lfl.3_Intron	p.V75_splice	NM_004411	NP_004402	WXS	Illumina GAIIx	Phase_I	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	501	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		75			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Splice_Site	SNP	ENST00000324972.6	37	c.224_splice	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421907	0.62622	.	.	ENSG00000158560	ENST00000324972;ENST00000437599	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1I1	95280443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.941000	0.99782	0.655000	0.94253	.		0.413	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	Intron	36	76	0	0	0	1	0	36	76					A	95442507	G	A	95442507	5	1	93	1	0	0	0	0	0	0	1	0	4842	1043	36	2	233	2	DYNC1I1	7	95442507	Splice_Site	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		95442507	63696156	3	1652											
C14orf147	171546	broad.mit.edu	37	14	34931373	34931373	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr14:34931373G>C	ENST00000298130.4	-	1	189	c.41C>G	c.(40-42)tCc>tGc	p.S14C		NM_138288.3	NP_612145.2	Q969W0	SPTSA_HUMAN	serine palmitoyltransferase, small subunit A	14					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											GTAGAACCAGGACATCTGCTT	0.697																																						uc001wsc.3																			0											c.(40-42)tCc>tGc		Homo sapiens serine palmitoyltransferase, small subunit A (SPTSSA), mRNA.							27	25	26					14																	34931373		2203	4296	6499	SO:0001583	missense	171546				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding	g.chr14:34931373G>C	AK001993	CCDS9647.2	14q13.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000165389	ENSG00000165389			20361	protein-coding gene	gene with protein product	"small subunit of serine palmitoyltransferase A"	613540	"chromosome 14 open reading frame 147"	C14orf147		19416851	Standard	NM_138288		Approved	ssSPTa	uc001wsc.3	Q969W0	OTTHUMG00000140212	ENST00000298130.4:c.41C>G	14.37:g.34931373G>C	ENSP00000298130:p.Ser14Cys		Somatic					p.S14C	NM_138288	NP_612145	WXS	Illumina GAIIx	Phase_I	Q969W0	SSPTA_HUMAN			0	96	-			14					B2RD54|D3DS93|Q8WTZ7	Missense_Mutation	SNP	ENST00000298130.4	37	c.41C>G	CCDS9647.2	.	.	.	.	.	.	.	.	.	.	g	32	5.131374	0.94473	.	.	ENSG00000165389	ENST00000298130	.	.	.	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82888	-0.0234	8	0.66056	D	0.02	-12.2681	16.7074	0.85376	0.0:0.0:1.0:0.0	.	14	Q969W0	SPTSA_HUMAN	C	14	.	ENSP00000298130:S14C	S	-	2	0	SPTSSA	34001124	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.103000	0.89550	2.243000	0.73865	0.484000	0.47621	TCC		0.697	SPTSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276640.2	NM_138288		4	16	0	0	0	1	0	4	16					C	34931373	G	C	34931373	3	2	93	1	0	0	0	0	1	0	0	0	1750	1174	41	4	182	4	C14orf147	14	34931373	Missense_Mutation	SNP	G	TCGA-DJ-A2Q1-01A-22D-A19J-08		34931373	72418167	4	1653											
C15orf39	56905	broad.mit.edu	37	15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr15:75501019C>T	ENST00000360639.2	+	2	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_ENST00000567617.1_Missense_Mutation_p.T877M|C15orf39_ENST00000394987.4_Missense_Mutation_p.T877M|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	877						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667																																						uc002azp.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2629-2631)aCg>aTg		Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.							23	18	20					15																	75501019		2194	4292	6486	SO:0001583	missense	56905							g.chr15:75501019C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2630C>T	15.37:g.75501019C>T	ENSP00000353854:p.Thr877Met		Somatic				C15orf39_uc002azq.4_Missense_Mutation_p.T877M|C15orf39_uc021sqm.1_Missense_Mutation_p.T636M|C15orf39_uc002azr.4_Missense_Mutation_p.T275M	p.T877M	NM_015492	NP_056307	WXS	Illumina GAIIx	Phase_I	Q6ZRI6	CO039_HUMAN			1	2950	+			877					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2630C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298753	0.81025	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38401	1.14;1.14	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61657	-0.7018	10	0.87932	D	0	-17.2293	17.8467	0.88732	0.0:1.0:0.0:0.0	.	439;877	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	M	877;877;275	ENSP00000353854:T877M;ENSP00000378438:T877M	ENSP00000353854:T877M	T	+	2	0	C15orf39	73288072	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	7.382000	0.79729	2.556000	0.86216	0.561000	0.74099	ACG		0.667	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		4	15	0	0	0	1	0	4	15					T	75501019	C	T	75501019	3	4	93	1	0	0	0	0	1	0	0	0	1793	536	19	1	2632	1	C15orf39	15	75501019	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08		75501019	27030373	5	1654											
WNK4	65266	broad.mit.edu	37	17	40948252	40948253	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:40948252_40948253GC>AG	ENST00000246914.5	+	17	3564_3565	c.3543_3544GC>AG	c.(3541-3546)atGCtg>atAGtg	p.1181_1182ML>IV	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1181					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCTGCTATGCTGTCCAGCCG	0.609																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.3																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3541-3546)atgctg>atAGtg		Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.																																				SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40948252_40948253GC>AG	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		Exception_encountered	17.37:g.40948252_40948253delinsAG	ENSP00000246914:p.M1181_L1182delinsIV		Somatic				WNK4_uc010wgx.2_Missense_Mutation_p.845_846ML>IV|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.4_5'Flank|CNTD1_uc010wha.2_5'Flank	p.1181_1182ML>IV	NM_032387	NP_115763	WXS	Illumina GAIIx	Phase_I	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3611_3612	+		Breast(137;0.000143)	1181					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	DNP	ENST00000246914.5	37	c.3543_3544GC>AG	CCDS11439.1																																																																																				0.609	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			7	17	0	0	0	1	0	7	17					AG	40948253	GC	AG	40948252	3	1	93	1	0	0	0	0	1	0	0	0	17377	1319	46	2	3609	2	WNK4	17	40948252	Missense_Mutation	DNP	GC	TCGA-DJ-A2Q1-01A-22D-A19J-08		40948252	40246958	6	1655											
METRNL	284207	broad.mit.edu	37	17	81042863	81042863	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr17:81042863C>T	ENST00000320095.7	+	2	345	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	74					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGTGTATCTGCGCTGTGCGGC	0.652																																						uc002kgh.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(220-222)Cgc>Tgc		Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.							107	107	107					17																	81042863		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042863C>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.220C>T	17.37:g.81042863C>T	ENSP00000315731:p.Arg74Cys		Somatic				METRNL_uc002kgi.3_5'UTR	p.R74C	NM_001004431	NP_001004431	WXS	Illumina GAIIx	Phase_I	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		1	345	+	Breast(20;0.000443)|all_neural(118;0.0779)		74					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.220C>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.253567	0.80135	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77405	-0.2600	8	.	.	.	-40.3061	14.3275	0.66530	0.0:1.0:0.0:0.0	.	74	Q641Q3	METRL_HUMAN	C	74	.	.	R	+	1	0	METRNL	78636152	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.058000	0.76676	2.323000	0.78572	0.450000	0.29827	CGC		0.652	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		5	62	0	0	0	1	0	5	62					T	81042863	C	T	81042863	3	4	93	1	0	0	0	0	1	0	0	0	9489	768	27	1	226	1	METRNL	17	81042863	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08	40094611	81042863	152347	7	1656											
CD209	30835	broad.mit.edu	37	19	7810588	7810588	+	Missense_Mutation	SNP	C	C	G	rs112592254		TCGA-DJ-A2Q1-01A-22D-A19J-08	TCGA-DJ-A2Q1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	007aab66-2f07-459d-8952-3041d6ea24a8	ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2	g.chr19:7810588C>G	ENST00000315599.7	-	4	586	c.564G>C	c.(562-564)aaG>aaC	p.K188N	CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K164N|CD209_ENST00000354397.6_Missense_Mutation_p.K188N|CD209_ENST00000601256.1_Missense_Mutation_p.K164N|CD209_ENST00000593660.1_Missense_Mutation_p.K164N|CD209_ENST00000601951.1_Missense_Mutation_p.K164N|CD209_ENST00000204801.8_Missense_Mutation_p.K144N|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	188	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|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 T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCTGCTTAGATTTCT	0.557																																						uc002mht.2																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(562-564)aaG>aaC		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.							62	60	61					19																	7810588		1952	3957	5909	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810588C>G	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.564G>C	19.37:g.7810588C>G	ENSP00000315477:p.Lys188Asn		Somatic				CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.K164N|CD209_uc002mhr.2_Missense_Mutation_p.K164N|CD209_uc002mhs.2_Missense_Mutation_p.K164N|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Missense_Mutation_p.K188N|CD209_uc002mhq.2_Missense_Mutation_p.K188N|CD209_uc002mhv.2_Missense_Mutation_p.K164N|CD209_uc002mhx.2_Missense_Mutation_p.K144N|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	p.K188N	NM_021155	NP_066978	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			3	631	-			188			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.564G>C	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537301	0.27475	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	0.995	0.995	0.19838	.	.	.	.	.	T	0.42268	0.1195	M	0.69823	2.125	0.09310	N	0.999997	P;P;P;P;D;B;D;D	0.67145	0.835;0.604;0.908;0.95;0.975;0.34;0.97;0.996	P;B;P;P;P;B;B;D	0.77557	0.65;0.318;0.888;0.72;0.776;0.108;0.412;0.99	T	0.15206	-1.0445	9	0.34782	T	0.22	.	5.3585	0.16075	0.0:1.0:0.0:0.0	.	188;164;144;164;188;164;164;188	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.;.	N	188;188;164;144;172	ENSP00000315477:K188N;ENSP00000346373:K188N;ENSP00000315407:K164N;ENSP00000204801:K144N	ENSP00000204801:K144N	K	-	3	2	CD209	7716588	0.092000	0.21681	0.025000	0.17156	0.036000	0.12997	-0.139000	0.10358	0.837000	0.34925	0.298000	0.19748	AAG		0.557	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		13	130	0	0	0	1	0	13	130					G	7810588	C	G	7810588	3	3	93	1	0	0	0	0	1	0	0	0	2984	796	28	4	666	4	CD209	19	7810588	Missense_Mutation	SNP	C	TCGA-DJ-A2Q1-01A-22D-A19J-08		7810588	51318395	8	1657											
ATP1A1	476	broad.mit.edu	37	1	116932301	116932301	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr1:116932301T>G	ENST00000295598.5	+	8	1247	c.995T>G	c.(994-996)gTg>gGg	p.V332G	ATP1A1_ENST00000369496.4_Missense_Mutation_p.V301G|ATP1A1_ENST00000537345.1_Missense_Mutation_p.V332G|ATP1A1_ENST00000491156.1_3'UTR	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	332					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTAGCCAATGTGCCGGAAGGT	0.507																																						uc001ege.3																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(994-996)gTg>gGg		Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						122	92	102					1																	116932301		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932301T>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.995T>G	1.37:g.116932301T>G	ENSP00000295598:p.Val332Gly		Somatic				ATP1A1_uc010owv.1_Missense_Mutation_p.V301G|ATP1A1_uc010oww.2_Missense_Mutation_p.V332G|ATP1A1_uc010owx.2_Missense_Mutation_p.V301G	p.V332G	NM_000701	NP_001153706	WXS	Illumina GAIIx	Phase_I	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	7	1334	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	332					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.995T>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513868	0.85389	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.92545	-3.06;-3.06;-3.06	4.87	4.87	0.63330	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98837	1.0753	10	0.87932	D	0	.	14.6423	0.68734	0.0:0.0:0.0:1.0	.	332;332	F5H3A1;P05023	.;AT1A1_HUMAN	G	332;332;331;301	ENSP00000295598:V332G;ENSP00000445306:V332G;ENSP00000358508:V301G	ENSP00000295598:V332G	V	+	2	0	ATP1A1	116733824	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	7.868000	0.87116	2.068000	0.61886	0.528000	0.53228	GTG		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		12	26	0	0	0	1	0	12	26					G	116932301	T	G	116932301	3	3	94	1	0	0	0	0	1	0	0	0	1128	1696	59	5	1041	5	ATP1A1	1	116932301	Missense_Mutation	SNP	T	TCGA-DJ-A2Q2-01A-11D-A19J-08		116932301	132318320	1	1658											
DNMT3A	1788	broad.mit.edu	37	2	25470535	25470535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:25470535C>T	ENST00000264709.3	-	8	1276	c.939G>A	c.(937-939)tgG>tgA	p.W313*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W313*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W90*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W124*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	313	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCATCCACCAAGACACAA	0.637			"Mis, F, N, S"		AML																																	uc002rgc.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0		p.S312F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(937-939)tgG>tgA		Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.							91	95	94					2																	25470535		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470535C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.939G>A	2.37:g.25470535C>T	ENSP00000264709:p.Trp313*		Somatic				DNMT3A_uc002rgd.3_Nonsense_Mutation_p.W313*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.W124*	p.W313*	NM_022552	NP_783328	WXS	Illumina GAIIx	Phase_I	Q9Y6K1	DNM3A_HUMAN			7	1196	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		313			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.939G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.118433	0.98662	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0978	16.948	0.86235	0.0:1.0:0.0:0.0	.	.	.	.	X	124;313;313;90	.	ENSP00000264709:W313X	W	-	3	0	DNMT3A	25324039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.848000	0.55903	2.584000	0.87258	0.462000	0.41574	TGG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		7	68	0	0	0	1	0	7	68					T	25470535	C	T	25470535	4	4	94	1	0	0	0	0	0	1	0	0	4676	508	18	2	1863	2	DNMT3A	2	25470535	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		25470535	217728838	2	1659											
HADHA	3030	broad.mit.edu	37	2	26457150	26457150	+	Missense_Mutation	SNP	G	G	T	rs75929560		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:26457150G>T	ENST00000380649.3	-	5	517	c.388C>A	c.(388-390)Ctt>Att	p.L130I	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.L43I	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	130					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTTTTCAAGTTTCTCAACT	0.423																																						uc002rgy.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(388-390)Ctt>Att		Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						131	121	124					2																	26457150		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26457150G>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.388C>A	2.37:g.26457150G>T	ENSP00000370023:p.Leu130Ile		Somatic				HADHA_uc010yks.2_Missense_Mutation_p.L43I|HADHA_uc010ykt.1_Missense_Mutation_p.L43I	p.L130I	NM_000182	NP_000173	WXS	Illumina GAIIx	Phase_I	P40939	ECHA_HUMAN			4	518	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.388C>A	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	G	4.807	0.150098	0.09185	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.69306	-0.39;-0.39	5.47	3.65	0.41850	Crotonase, core (1);	0.165507	0.53938	D	0.000052	T	0.42017	0.1184	N	0.05306	-0.075	0.43814	D	0.996378	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.23574	0.047;0.008;0.008	T	0.35051	-0.9804	10	0.05351	T	0.99	-23.7369	14.0503	0.64732	0.0:0.288:0.712:0.0	.	43;130;130	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	I	130;43	ENSP00000370023:L130I;ENSP00000405344:L43I	ENSP00000370023:L130I	L	-	1	0	HADHA	26310654	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.333000	0.52090	0.677000	0.31305	0.655000	0.94253	CTT		0.423	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		5	79	0	0	0	1	0	5	79					T	26457150	G	T	26457150	3	4	94	1	0	0	0	0	1	0	0	0	6943	1029	36	4	1967	4	HADHA	2	26457150	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	986615	26457150	216742223	3	1660											
C1QL2	165257	broad.mit.edu	37	2	119915192	119915192	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr2:119915192G>A	ENST00000272520.3	-	1	1273	c.654C>T	c.(652-654)agC>agT	p.S218S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	218	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCGCCCACATGCTGGTGCCGT	0.642										HNSCC(49;0.14)																												uc002tlo.2																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(652-654)agC>agT		Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.							48	54	52					2																	119915192		2201	4300	6501	SO:0001819	synonymous_variant	165257					collagen		g.chr2:119915192G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.654C>T	2.37:g.119915192G>A		HNSCC(49;0.14)	Somatic					p.S218S	NM_182528	NP_872334	WXS	Illumina GAIIx	Phase_I	Q7Z5L3	C1QL2_HUMAN			0	1280	-			218			C1q.			Silent	SNP	ENST00000272520.3	37	c.654C>T	CCDS42737.1																																																																																				0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		10	28	0	0	0	1	0	10	28					A	119915192	G	A	119915192	2	1	94	1	0	0	0	0	0	0	0	1	1959	1310	46	2		2	C1QL2	2	119915192	Silent	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	93458042	119915192	123284181	4	1661											
GRXCR1	389207	broad.mit.edu	37	4	42964970	42964970	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr4:42964970T>C	ENST00000399770.2	+	2	446	c.446T>C	c.(445-447)gTc>gCc	p.V149A		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	149	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CTTCGTGTGGTCCGGACAACC	0.388																																						uc003gwt.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(445-447)gTc>gCc		Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.							171	165	167					4																	42964970		1867	4102	5969	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42964970T>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.446T>C	4.37:g.42964970T>C	ENSP00000382670:p.Val149Ala		Somatic					p.V149A	NM_001080476	NP_001073945	WXS	Illumina GAIIx	Phase_I	A8MXD5	GRCR1_HUMAN			1	447	+			149			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.446T>C	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635716	0.87760	.	.	ENSG00000215203	ENST00000399770	T	0.22743	1.94	5.78	5.78	0.91487	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000009	T	0.52500	0.1738	M	0.86502	2.82	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	T	0.60454	-0.7260	10	0.72032	D	0.01	-9.2496	15.2809	0.73784	0.0:0.0:0.0:1.0	.	149	A8MXD5	GRCR1_HUMAN	A	149	ENSP00000382670:V149A	ENSP00000382670:V149A	V	+	2	0	GRXCR1	42659727	1.000000	0.71417	0.960000	0.40013	0.958000	0.62258	7.698000	0.84413	2.199000	0.70637	0.533000	0.62120	GTC		0.388	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		4	80	0	0	0	1	0	4	80					C	42964970	T	C	42964970	3	2	94	1	0	0	0	0	1	0	0	0	6812	1667	58	3	452	3	GRXCR1	4	42964970	Missense_Mutation	SNP	T	TCGA-DJ-A2Q2-01A-11D-A19J-08		42964970	148189306	5	1662											
CTNND2	1501	broad.mit.edu	37	5	11098687	11098687	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:11098687C>T	ENST00000304623.8	-	15	2826	c.2637G>A	c.(2635-2637)aaG>aaA	p.K879K	CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Splice_Site_p.K788K|CTNND2_ENST00000503622.1_Splice_Site_p.K542K|CTNND2_ENST00000458100.2_Splice_Site_p.K446K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	879					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGGCCATACCTTCCAGCTCC	0.463																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.e15+1		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							59	58	58					5																	11098687		2203	4300	6503	SO:0001630	splice_region_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11098687C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2637+1G>A	5.37:g.11098687C>T			Somatic				CTNND2_uc010itt.2_Splice_Site_p.K788_splice|CTNND2_uc011cmy.1_Splice_Site_p.K542_splice|CTNND2_uc011cmz.1_Splice_Site_p.K446_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.K446_splice	p.K879_splice	NM_001332	NP_001323	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			15	2782	-			879					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Splice_Site	SNP	ENST00000304623.8	37	c.2637_splice	CCDS3881.1																																																																																				0.463	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	Silent	4	62	0	0	0	1	0	4	62					T	11098687	C	T	11098687	5	4	94	1	0	0	0	0	0	0	1	0	4020	695	24	2	1072	2	CTNND2	5	11098687	Splice_Site	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		11098687	169816573	6	1663											
RASGRF2	5924	broad.mit.edu	37	5	80508237	80508237	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr5:80508237G>A	ENST00000265080.4	+	23	3276	c.3209G>A	c.(3208-3210)cGt>cAt	p.R1070H	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1070	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		GTCAGCTCCCGTGCCAACGCC	0.542																																						uc003kha.2																			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.(3208-3210)cGt>cAt		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.							63	57	59					5																	80508237		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	Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr5:80508237G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3209G>A	5.37:g.80508237G>A	ENSP00000265080:p.Arg1070His		Somatic				RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	p.R1070H	NM_006909	NP_008840	WXS	Illumina GAIIx	Phase_I	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	22	3259	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1070			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3209G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580562	0.86645	.	.	ENSG00000113319	ENST00000265080	T	0.70986	-0.53	5.84	4.06	0.47325	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.096157	0.64402	D	0.000003	D	0.89399	0.6704	H	0.98295	4.195	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	D	0.91147	0.4950	10	0.87932	D	0	.	11.4321	0.50047	0.0683:0.1267:0.805:0.0	.	1070	O14827	RGRF2_HUMAN	H	1070	ENSP00000265080:R1070H	ENSP00000265080:R1070H	R	+	2	0	RASGRF2	80543993	1.000000	0.71417	0.057000	0.19452	0.986000	0.74619	9.864000	0.99589	0.806000	0.34183	0.655000	0.94253	CGT		0.542	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		11	34	0	0	0	1	0	11	34					A	80508237	G	A	80508237	3	1	94	1	0	0	0	0	1	0	0	0	13073	1145	40	1	3299	1	RASGRF2	5	80508237	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	69409550	80508237	100407023	7	1664											
TWISTNB	221830	broad.mit.edu	37	7	19738204	19738204	+	Missense_Mutation	SNP	G	G	C	rs555342790	byFrequency	TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr7:19738204G>C	ENST00000222567.5	-	4	822	c.752C>G	c.(751-753)gCa>gGa	p.A251G		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	251	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AGTGTCATCTGCATCATCTGC	0.433													G|||	12	0.00239617	0	0	5008	,	,		17396	0.001		0	False		,,,				2504	0.0112					uc003sup.1																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(751-753)gCa>gGa		Homo sapiens TWIST neighbor (TWISTNB), mRNA.							268	279	275					7																	19738204		2203	4300	6503	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738204G>C	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.752C>G	7.37:g.19738204G>C	ENSP00000222567:p.Ala251Gly		Somatic					p.A251G	NM_001002926	NP_001002926	WXS	Illumina GAIIx	Phase_I	Q3B726	RPA43_HUMAN			3	773	-			251			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.752C>G	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108219	0.37242	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.99	3.12	0.35913	.	0.956275	0.08858	N	0.883396	T	0.40067	0.1102	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34700	-0.9818	9	0.18710	T	0.47	-0.0331	4.85	0.13531	0.0808:0.1489:0.6162:0.1541	.	251	Q3B726	RPA43_HUMAN	G	251	.	ENSP00000222567:A251G	A	-	2	0	TWISTNB	19704729	0.000000	0.05858	0.027000	0.17364	0.571000	0.35966	0.184000	0.16939	0.593000	0.29745	0.484000	0.47621	GCA		0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			10	224	0	0	0	1	0	10	224					C	19738204	G	C	19738204	3	2	94	1	0	0	0	0	1	0	0	0	16781	1319	46	4	268	4	TWISTNB	7	19738204	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08		19738204	139400459	8	1665											
KTN1	3895	broad.mit.edu	37	14	56139949	56139949	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr14:56139949A>G	ENST00000395314.3	+	40	3815	c.3747A>G	c.(3745-3747)gtA>gtG	p.V1249V	KTN1_ENST00000438792.2_Intron|KTN1_ENST00000416613.1_Silent_p.V1249V|KTN1_ENST00000395309.3_Silent_p.V1249V|KTN1_ENST00000555573.1_Intron|KTN1_ENST00000554507.1_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000413890.2_Intron|KTN1_ENST00000395311.1_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1249					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						CTGAAGCAGTAAGACAGAATG	0.373			T	RET	papillary thryoid																																	uc001xcb.3				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3745-3747)gtA>gtG		Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.							87	85	85					14																	56139949		2203	4300	6503	SO:0001819	synonymous_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56139949A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3747A>G	14.37:g.56139949A>G			Somatic				KTN1_uc001xcc.3_Silent_p.V1249V|KTN1_uc001xcd.3_Intron|KTN1_uc001xce.3_Intron|KTN1_uc010trb.2_Intron|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.3_Intron|KTN1_uc010trc.2_Intron|KTN1_uc001xcg.3_Intron	p.V1249V	NM_182926	NP_891556	WXS	Illumina GAIIx	Phase_I	Q86UP2	KTN1_HUMAN			40	4049	+			1249					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	c.3747A>G	CCDS41957.1																																																																																				0.373	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			3	17	0	0	0	1	0	3	17					G	56139949	A	G	56139949	2	3	94	1	0	0	0	0	0	0	0	1	8585	349	13	3		3	KTN1	14	56139949	Silent	SNP	A	TCGA-DJ-A2Q2-01A-11D-A19J-08		56139949	51209591	9	1666											
CNTNAP1	8506	broad.mit.edu	37	17	40836233	40836233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr17:40836233C>T	ENST00000264638.4	+	3	566	c.349C>T	c.(349-351)Cga>Tga	p.R117*	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000332438.4_5'Flank|CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	117	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTCTACCAGCGAGGGCACAA	0.612																																						uc002iay.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(349-351)Cga>Tga		Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.							102	104	103					17																	40836233		2203	4300	6503	SO:0001587	stop_gained	8506				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	g.chr17:40836233C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.349C>T	17.37:g.40836233C>T	ENSP00000264638:p.Arg117*		Somatic				CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	p.R117*	NM_003632	NP_003623	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	2	565	+		Breast(137;0.000143)	117			F5/8 type C.			Nonsense_Mutation	SNP	ENST00000264638.4	37	c.349C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588271	0.97684	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.42	2.23	0.28157	.	1.154550	0.06474	N	0.731757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.4318	0.67257	0.3828:0.6172:0.0:0.0	.	.	.	.	X	117	.	ENSP00000264638:R117X	R	+	1	2	CNTNAP1	38089759	0.944000	0.32072	0.407000	0.26434	0.972000	0.66771	1.680000	0.37607	0.231000	0.21079	0.462000	0.41574	CGA		0.612	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		17	134	0	0	0	1	0	17	134					T	40836233	C	T	40836233	4	4	94	1	0	0	0	0	0	1	0	0	3646	760	27	1	359	1	CNTNAP1	17	40836233	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q2-01A-11D-A19J-08		40836233	40358977	10	1667											
PSG1	5669	broad.mit.edu	37	19	43382240	43382240	+	Silent	SNP	G	G	A	rs1058959		TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chr19:43382240G>A	ENST00000436291.2	-	2	371	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG1_ENST00000312439.6_Silent_p.D85D|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Silent_p.D85D|PSG1_ENST00000244296.2_Silent_p.D85D|PSG1_ENST00000595124.1_Silent_p.D85D|PSG1_ENST00000595356.1_Silent_p.D85D	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	85	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D85E(2)		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)				TTATTTCACCGTCTACTACAT	0.448																																						uc002ovd.1																			2	Substitution - Missense(2)	p.D85E(2)	lung(2)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(253-255)gaC>gaT		Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.							257	250	253					19																	43382240		2202	4299	6501	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43382240G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.255C>T	19.37:g.43382240G>A			Somatic				PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.D85D|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.D85D|PSG3_uc002ova.2_Silent_p.D85D|PSG3_uc002ouz.2_Silent_p.D85D|PSG3_uc002ovb.3_Silent_p.D85D	p.D85D	NM_006905	NP_008836	WXS	Illumina GAIIx	Phase_I	Q16557	PSG3_HUMAN			1	393	-		Prostate(69;0.00682)	85			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	c.255C>T	CCDS54275.1																																																																																				0.448	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			18	438	0	0	0	1	0	18	438					A	43382240	G	A	43382240	2	1	94	1	0	0	0	0	0	0	0	1	12653	1136	40	1		1	PSG1	19	43382240	Silent	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08		43382240	15746743	11	1668											
PTCHD1	139411	broad.mit.edu	37	X	23411839	23411839	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:23411839A>T	ENST00000379361.4	+	3	3064	c.2204A>T	c.(2203-2205)gAg>gTg	p.E735V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	735					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						GTGTCCGTGGAGTTTGGAGTG	0.413																																						uc004dal.4																			0		p.A735D(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(2203-2205)gAg>gTg		Homo sapiens patched domain containing 1 (PTCHD1), mRNA.							156	133	141					X																	23411839		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411839A>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2204A>T	X.37:g.23411839A>T	ENSP00000368666:p.Glu735Val		Somatic					p.E735V	NM_173495	NP_775766	WXS	Illumina GAIIx	Phase_I	Q96NR3	PTHD1_HUMAN			2	2212	+			735					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.2204A>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094441	0.56075	.	.	ENSG00000165186	ENST00000379361	D	0.85773	-2.03	5.18	5.18	0.71444	.	0.056235	0.64402	D	0.000001	T	0.80502	0.4635	L	0.46157	1.445	0.53688	D	0.999978	B	0.15141	0.012	B	0.24006	0.05	T	0.74328	-0.3701	10	0.14252	T	0.57	.	14.1343	0.65276	1.0:0.0:0.0:0.0	.	735	Q96NR3	PTHD1_HUMAN	V	735	ENSP00000368666:E735V	ENSP00000368666:E735V	E	+	2	0	PTCHD1	23321760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	1.715000	0.51383	0.425000	0.28330	GAG		0.413	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		4	78	0	0	0	1	0	4	78					T	23411839	A	T	23411839	3	4	94	1	0	0	0	0	1	0	0	0	12732	304	11	5	2214	5	PTCHD1	23	23411839	Missense_Mutation	SNP	A	TCGA-DJ-A2Q2-01A-11D-A19J-08		23411839	131858721	12	1669											
COL4A6	1288	broad.mit.edu	37	X	107417689	107417689	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q2-01A-11D-A19J-08	TCGA-DJ-A2Q2-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	565e656c-d5e3-4fe4-a10c-2e9ca1e498b5	a78604a5-9aa0-4d49-b007-24c54f34ea21	g.chrX:107417689G>C	ENST00000372216.4	-	31	3222	c.3122C>G	c.(3121-3123)cCa>cGa	p.P1041R	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1041R|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1040R|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1040R|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1040R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1041	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGGCATTCCTGGGAAACCTGT	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3121-3123)cCa>cGa		Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.							68	68	68					X																	107417689		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417689G>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3122C>G	X.37:g.107417689G>C	ENSP00000361290:p.Pro1041Arg		Somatic				COL4A6_uc004env.4_Missense_Mutation_p.P1040R|COL4A6_uc011msn.2_Missense_Mutation_p.P1040R|COL4A6_uc010npk.3_Missense_Mutation_p.P1040R	p.P1041R	NM_001847	NP_001838	WXS	Illumina GAIIx	Phase_I	Q14031	CO4A6_HUMAN			30	3225	-			1041			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3122C>G	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524268	0.27299	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23	4.74	2.9	0.33743	.	0.198657	0.25217	N	0.032276	D	0.97629	0.9223	M	0.74881	2.28	0.39761	D	0.972029	D;D;D;P	0.67145	0.995;0.995;0.996;0.941	D;D;D;P	0.66716	0.91;0.91;0.946;0.854	D	0.97072	0.9778	10	0.72032	D	0.01	.	9.0755	0.36519	0.0809:0.0:0.7715:0.1476	.	1040;1040;1041;1040	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	1041;1040;1041;1040;1040;1040	ENSP00000361290:P1041R;ENSP00000334733:P1040R;ENSP00000378340:P1041R;ENSP00000443707:P1040R;ENSP00000445236:P1040R	ENSP00000334733:P1040R	P	-	2	0	COL4A6	107304345	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.732000	0.62029	0.478000	0.27488	0.538000	0.68166	CCA		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			11	85	0	0	0	1	0	11	85					C	107417689	G	C	107417689	3	2	94	1	0	0	0	0	1	0	0	0	3695	1348	47	4	2013	4	COL4A6	23	107417689	Missense_Mutation	SNP	G	TCGA-DJ-A2Q2-01A-11D-A19J-08	84005850	107417689	47852871	13	1670											
FCRL5	83416	broad.mit.edu	37	1	157504590	157504590	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr1:157504590C>A	ENST00000361835.3	-	8	1652	c.1495G>T	c.(1495-1497)Ggt>Tgt	p.G499C	FCRL5_ENST00000368189.3_Missense_Mutation_p.G499C|FCRL5_ENST00000368190.3_Missense_Mutation_p.G499C|FCRL5_ENST00000368191.3_Missense_Mutation_p.G414C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G499C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	499	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTGGGGAACCTCTCTGGACT	0.527																																						uc009wsm.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1495-1497)Ggt>Tgt		Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.							57	56	56					1																	157504590		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504590C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1495G>T	1.37:g.157504590C>A	ENSP00000354691:p.Gly499Cys		Somatic				FCRL5_uc001fqu.3_Missense_Mutation_p.G499C|FCRL5_uc010phv.1_Missense_Mutation_p.G499C|FCRL5_uc010phw.1_Missense_Mutation_p.G414C|FCRL5_uc001fqv.1_Missense_Mutation_p.G499C|FCRL5_uc010phx.2_Missense_Mutation_p.G250C	p.G499C	NM_001195388	NP_001182317	WXS	Illumina GAIIx	Phase_I	Q96RD9	FCRL5_HUMAN			7	1653	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	499			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1495G>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323776	0.41096	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	3.34	3.34	0.38264	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51635	0.1686	H	0.99391	4.545	0.40985	D	0.984806	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.69262	-0.5191	9	0.87932	D	0	.	10.3477	0.43916	0.0:1.0:0.0:0.0	.	530;414;499;499;499;499	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	C	499;499;499;414;499	ENSP00000354691:G499C;ENSP00000349434:G499C;ENSP00000357173:G499C;ENSP00000357174:G414C;ENSP00000357172:G499C	ENSP00000349434:G499C	G	-	1	0	FCRL5	155771214	0.447000	0.25673	0.025000	0.17156	0.006000	0.05464	3.294000	0.51787	1.872000	0.54250	0.313000	0.20887	GGT		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		12	42	0	0	0	1	0	12	42					A	157504590	C	A	157504590	3	1	95	1	0	0	0	0	1	0	0	0	5798	681	24	4	1478	4	FCRL5	1	157504590	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08		157504590	91746031	1	1671											
LYPD6B	130576	broad.mit.edu	37	2	150017336	150017336	+	Intron	DEL	T	T	-			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:150017336delT	ENST00000409029.1	+	3	207				LYPD6B_ENST00000450639.1_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000280115.7_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409642.3_Frame_Shift_Del_p.F22fs|LYPD6B_ENST00000409876.1_Intron			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GACAACCACATTCTCCTTCTC	0.468																																						uc002twv.1																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(64-66)ttcfs		Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA.							60	53	55					2																	150017336		1857	4073	5930	SO:0001627	intron_variant	130576					anchored to membrane|plasma membrane		g.chr2:150017336delT		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.5+29869T>-	2.37:g.150017336delT			Somatic				LYPD6B_uc002tww.1_Intron|LYPD6B_uc002twx.1_Intron	p.F22fs	NM_177964	NP_808879	WXS	Illumina GAIIx	Phase_I	Q8NI32	LPD6B_HUMAN			2	465	+			0					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Frame_Shift_Del	DEL	ENST00000409029.1	37	c.64delT																																																																																					0.468	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		2	4						2	4	---	---	---	---	-	150017336	T	-	150017336	6	5	95	0	1	1	0	1	0	0	0	0	9115	1493	52	0		0	LYPD6B	2	150017336	Intron	DEL	T	TCGA-DJ-A2Q3-01A-11D-A18F-08		150017336	93182037	2	1672											
TTN	7273	broad.mit.edu	37	2	179419249	179419249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:179419249G>A	ENST00000591111.1	-	282	84126	c.83902C>T	c.(83902-83904)Cga>Tga	p.R27968*	TTN_ENST00000589042.1_Nonsense_Mutation_p.R29609*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27041*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R20669*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20544*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R20736*			Q8WZ42	TITIN_HUMAN	titin	27968	Fibronectin type-III 103. {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)			TTCACGGCTCGGACCCGGAAG	0.433																																						uc021vsy.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.(81121-81123)Cga>Tga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							39	40	40					2																	179419249		1877	4104	5981	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419249G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83902C>T	2.37:g.179419249G>A	ENSP00000465570:p.Arg27968*		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R20736*|TTN_uc021vta.1_Nonsense_Mutation_p.R20669*|TTN_uc021vtb.1_Nonsense_Mutation_p.R20544*	p.R27041*	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		280	81346	-			27968			Fibronectin type-III 97.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.81121C>T		.	.	.	.	.	.	.	.	.	.	G	66	94.523692	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	.	.	.	X	27041;20544;20736;20669;20541	.	ENSP00000340554:R20736X	R	-	1	2	TTN	179127495	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	3.363000	0.52321	2.941000	0.99782	0.655000	0.94253	CGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	21	0	0	0	1	0	9	21					A	179419249	G	A	179419249	4	1	95	1	0	0	0	0	0	1	0	0	16732	1124	39	1	19278	1	TTN	2	179419249	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08	29401913	179419249	63780124	3	1673											
D2HGDH	728294	broad.mit.edu	37	2	242680473	242680473	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr2:242680473A>G	ENST00000321264.4	+	3	527	c.318A>G	c.(316-318)ccA>ccG	p.P106P	D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Silent_p.P106P|D2HGDH_ENST00000537090.1_Silent_p.P106P	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	106	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGCTGAGGCCACGGACGTCGG	0.622																																						uc002wce.1																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(316-318)ccA>ccG		Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.							60	52	54					2																	242680473		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242680473A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.318A>G	2.37:g.242680473A>G			Somatic				D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_5'UTR|D2HGDH_uc002wcg.1_Non-coding_Transcript	p.P106P	NM_152783	NP_689996	WXS	Illumina GAIIx	Phase_I	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	491	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	106			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.318A>G	CCDS33426.1																																																																																				0.622	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		4	26	0	0	0	1	0	4	26					G	242680473	A	G	242680473	2	3	95	1	0	0	0	0	0	0	0	1	4213	146	6	3		3	D2HGDH	2	242680473	Silent	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	63261224	242680473	518900	4	1674											
CCRL1	51554	broad.mit.edu	37	3	132319255	132319255	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr3:132319255A>C	ENST00000249887.2	+	2	110	c.14A>C	c.(13-15)cAg>cCg	p.Q5P	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	5					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GCTTTGGAACAGAACCAGTCA	0.338																																						uc003eow.3																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17						c.(13-15)cAg>cCg		Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA.							27	26	26					3																	132319255		2200	4299	6499	SO:0001583	missense	51554				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:132319255A>C	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.14A>C	3.37:g.132319255A>C	ENSP00000249887:p.Gln5Pro		Somatic				NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Missense_Mutation_p.Q5P	p.Q5P	NM_016557	NP_848540	WXS	Illumina GAIIx	Phase_I	Q9NPB9	CCRL1_HUMAN			1	97	+			5					B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.14A>C	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	A	9.287	1.049731	0.19827	.	.	ENSG00000129048	ENST00000249887;ENST00000424114	T	0.60920	0.15	5.22	1.28	0.21552	.	0.769696	0.12089	N	0.500594	T	0.42765	0.1217	L	0.36672	1.1	0.22280	N	0.999236	B	0.27068	0.167	B	0.28011	0.085	T	0.27872	-1.0061	10	0.30854	T	0.27	.	5.5241	0.16949	0.5214:0.0:0.0755:0.4031	.	5	Q9NPB9	CCRL1_HUMAN	P	5	ENSP00000249887:Q5P	ENSP00000249887:Q5P	Q	+	2	0	CCRL1	133801945	0.374000	0.25081	0.827000	0.32855	0.940000	0.58332	1.230000	0.32612	-0.022000	0.13986	0.482000	0.46254	CAG		0.338	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		5	7	0	0	0	1	0	5	7					C	132319255	A	C	132319255	3	2	95	1	0	0	0	0	1	0	0	0	2949	188	7	5	16	5	CCRL1	3	132319255	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		132319255	65703175	5	1675											
GPR151	134391	broad.mit.edu	37	5	145895152	145895152	+	Missense_Mutation	SNP	A	A	T	rs558001563	byFrequency	TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr5:145895152A>T	ENST00000311104.2	-	1	601	c.525T>A	c.(523-525)ttT>ttA	p.F175L		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATGGTGCTAAAGAACCATT	0.522																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(523-525)ttT>ttA		Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.							104	92	96					5																	145895152		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895152A>T	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.525T>A	5.37:g.145895152A>T	ENSP00000308733:p.Phe175Leu		Somatic					p.F175L	NM_194251	NP_919227	WXS	Illumina GAIIx	Phase_I	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	525	-			175					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.525T>A	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592426	0.66219	.	.	ENSG00000173250	ENST00000311104	T	0.71103	-0.54	5.61	-10.6	0.00265	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	M	0.64997	1.995	0.24499	N	0.994263	D	0.89917	1.0	D	0.91635	0.999	T	0.80908	-0.1172	10	0.49607	T	0.09	.	23.5718	0.99984	0.2322:0.0:0.7678:0.0	.	175	Q8TDV0	GP151_HUMAN	L	175	ENSP00000308733:F175L	ENSP00000308733:F175L	F	-	3	2	GPR151	145875345	0.018000	0.18449	0.116000	0.21606	0.893000	0.52053	-1.282000	0.02799	-2.230000	0.00719	-0.290000	0.09829	TTT		0.522	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		12	39	0	0	0	1	0	12	39					T	145895152	A	T	145895152	3	4	95	1	0	0	0	0	1	0	0	0	6657	359	13	5	738	5	GPR151	5	145895152	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		145895152	35020108	6	1676											
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	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)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378																																						uc003tsx.3																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(136-138)ttA>ttG		Homo sapiens zinc finger protein 679 (ZNF679), mRNA.							47	42	44					7																	63720697		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720697A>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.138A>G	7.37:g.63720697A>G			Somatic					p.L46L	NM_153363	NP_699194	WXS	Illumina GAIIx	Phase_I	Q8IYX0	ZN679_HUMAN			2	407	+			46			KRAB.			Silent	SNP	ENST00000421025.1	37	c.138A>G	CCDS47592.1																																																																																				0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	124	0	0	0	1	0	3	124					G	63720697	A	G	63720697	2	3	95	1	0	0	0	0	0	0	0	1	18083	417	15	3		3	ZNF679	7	63720697	Silent	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		63720697	95417966	7	1677											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	50	0	0	0	1	0	10	50					T	140453136	A	T	140453136	3	4	95	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	76732439	140453136	18685527	8	1678											
SH2D4A	63898	broad.mit.edu	37	8	19231046	19231046	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:19231046A>G	ENST00000265807.3	+	8	1334	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q308R|SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q263R	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	308					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AACAGAAATCAGGGAGTGGTG	0.383																																						uc003wzb.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(922-924)cAg>cGg		Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 1, mRNA.							50	46	48					8																	19231046		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19231046A>G	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.923A>G	8.37:g.19231046A>G	ENSP00000265807:p.Gln308Arg		Somatic				SH2D4A_uc011kym.2_Missense_Mutation_p.Q263R|SH2D4A_uc003wzc.3_Missense_Mutation_p.Q308R	p.Q308R	NM_022071	NP_071354	WXS	Illumina GAIIx	Phase_I	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	7	1381	+			308					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.923A>G	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564422	0.27915	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.14391	2.51;2.51;2.51	5.99	3.51	0.40186	.	0.238747	0.36444	N	0.002587	T	0.09555	0.0235	L	0.47190	1.495	0.09310	N	0.999995	B;B	0.33549	0.417;0.037	B;B	0.24269	0.052;0.021	T	0.30268	-0.9984	10	0.09084	T	0.74	.	10.2529	0.43379	0.6795:0.3205:0.0:0.0	.	263;308	B4DDR1;Q9H788	.;SH24A_HUMAN	R	308;263;308	ENSP00000265807:Q308R;ENSP00000429482:Q263R;ENSP00000428684:Q308R	ENSP00000265807:Q308R	Q	+	2	0	SH2D4A	19275326	0.125000	0.22332	0.007000	0.13788	0.792000	0.44763	0.324000	0.19610	0.457000	0.26962	0.533000	0.62120	CAG		0.383	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		3	30	0	0	0	1	0	3	30					G	19231046	A	G	19231046	3	3	95	1	0	0	0	0	1	0	0	0	14235	188	7	3	999	3	SH2D4A	8	19231046	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		19231046	127132976	9	1679											
NEFM	4741	broad.mit.edu	37	8	24774945	24774945	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:24774945delA	ENST00000221166.5	+	3	2359	c.1577delA	c.(1576-1578)gaafs	p.E526fs	NEFM_ENST00000518131.1_Frame_Shift_Del_p.E526fs|NEFM_ENST00000437366.2_Frame_Shift_Del_p.E526fs|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Frame_Shift_Del_p.E150fs			P07197	NFM_HUMAN	neurofilament, medium polypeptide	526	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaggaaggggaaaaggaggaa	0.488																																						uc003xed.4																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1576-1578)gaafs		Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.							31	36	34					8																	24774945		2190	4270	6460	SO:0001589	frameshift_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24774945delA	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1577delA	8.37:g.24774945delA	ENSP00000221166:p.Glu526fs		Somatic				NEFM_uc011lac.1_Frame_Shift_Del_p.E526fs|NEFM_uc010lue.3_Frame_Shift_Del_p.E150fs	p.E526fs	NM_005382	NP_005373	WXS	Illumina GAIIx	Phase_I	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	2	1610	+		Prostate(55;0.157)	526			Tail.		B4DGN2|E9PBF7|Q4QRK6	Frame_Shift_Del	DEL	ENST00000221166.5	37	c.1577delA	CCDS6046.1																																																																																				0.488	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		2	4						2	4	---	---	---	---	-	24774945	A	-	24774945	7	5	95	1	0	1	0	1	0	0	0	0	10316	246	9	0	1587	0	NEFM	8	24774945	Frame_Shift_Del	DEL	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	5543899	24774945	121589077	10	1680											
EBF2	64641	broad.mit.edu	37	8	25890631	25890631	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr8:25890631T>C	ENST00000520164.1	-	6	1058	c.521A>G	c.(520-522)gAg>gGg	p.E174G	EBF2_ENST00000408929.3_Missense_Mutation_p.E26G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	174					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGATGGAGTCTCATTTCGGTT	0.393																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(520-522)gAg>gGg		Homo sapiens early B-cell factor 2 (EBF2), mRNA.							143	142	143					8																	25890631		1954	4190	6144	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25890631T>C	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.521A>G	8.37:g.25890631T>C	ENSP00000430241:p.Glu174Gly		Somatic				DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.E174G	p.E174G	NM_022659	NP_073150	WXS	Illumina GAIIx	Phase_I	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	5	786	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	174					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.521A>G	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	T	32	5.127760	0.94473	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.58358	0.41;0.34	5.87	5.87	0.94306	.	0.218434	0.36665	U	0.002478	T	0.71719	0.3373	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74408	-0.3675	10	0.87932	D	0	-1.7133	16.5764	0.84681	0.0:0.0:0.0:1.0	.	174	Q9HAK2	COE2_HUMAN	G	174;26	ENSP00000430241:E174G;ENSP00000386178:E26G	ENSP00000386178:E26G	E	-	2	0	EBF2	25946548	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAG		0.393	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		3	79	0	0	0	1	0	3	79					C	25890631	T	C	25890631	3	2	95	1	0	0	0	0	1	0	0	0	4881	1551	54	3	1250	3	EBF2	8	25890631	Missense_Mutation	SNP	T	TCGA-DJ-A2Q3-01A-11D-A18F-08	1115686	25890631	120473391	11	1681											
UNC13B	10497	broad.mit.edu	37	9	35399705	35399705	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr9:35399705C>G	ENST00000378495.3	+	35	4290	c.4068C>G	c.(4066-4068)gaC>gaG	p.D1356E	UNC13B_ENST00000378496.4_Missense_Mutation_p.D1356E|UNC13B_ENST00000396787.1_Missense_Mutation_p.D1368E	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1356	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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)			CAGTCCTTGACCTCGCCCTGG	0.547																																						uc003zwr.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.(4066-4068)gaC>gaG		Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.							210	184	193					9																	35399705		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity	g.chr9:35399705C>G	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4068C>G	9.37:g.35399705C>G	ENSP00000367756:p.Asp1356Glu		Somatic				UNC13B_uc003zwq.3_Missense_Mutation_p.D1356E	p.D1356E	NM_006377	NP_006368	WXS	Illumina GAIIx	Phase_I	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		34	4360	+	all_epithelial(49;0.212)		1356			MHD2.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.4068C>G	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156653	0.21454	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.72942	-0.7;-0.7;-0.7	5.55	5.55	0.83447	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.042117	0.85682	D	0.000000	T	0.42854	0.1221	N	0.11789	0.175	0.58432	D	0.999992	P;B	0.40619	0.724;0.067	B;B	0.33690	0.168;0.062	T	0.54255	-0.8321	10	0.02654	T	1	-23.1917	9.7776	0.40630	0.0:0.678:0.2492:0.0728	.	1356;1356	F8W8M9;O14795	.;UN13B_HUMAN	E	1368;1356;1356;943	ENSP00000380006:D1368E;ENSP00000367756:D1356E;ENSP00000367757:D1356E	ENSP00000367756:D1356E	D	+	3	2	UNC13B	35389705	0.495000	0.26051	1.000000	0.80357	0.992000	0.81027	-0.203000	0.09438	2.894000	0.99253	0.655000	0.94253	GAC		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		11	159	0	0	0	1	0	11	159					G	35399705	C	G	35399705	3	3	95	1	0	0	0	0	1	0	0	0	16982	506	18	4	4206	4	UNC13B	9	35399705	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08		35399705	105813726	12	1682											
IFFO1	25900	broad.mit.edu	37	12	6659951	6659951	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:6659951G>A	ENST00000396840.2	-	3	881	c.840C>T	c.(838-840)gcC>gcT	p.A280A	IFFO1_ENST00000336604.4_Silent_p.A280A|IFFO1_ENST00000356896.4_Silent_p.A280A|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000465801.1_5'UTR			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	280						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CAGCCTCCTGGGCTTCCTGCA	0.582																																						uc010sfe.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(838-840)gcC>gcT		Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.							89	67	75					12																	6659951		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6659951G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.840C>T	12.37:g.6659951G>A			Somatic				IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_5'Flank|IFFO1_uc001qpa.2_5'Flank|IFFO1_uc001qpb.1_5'Flank|IFFO1_uc001qpc.2_Silent_p.A280A|IFFO1_uc001qpf.2_Silent_p.A280A|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_5'Flank	p.A280A	NM_001193457	NP_001180386	WXS	Illumina GAIIx	Phase_I	Q0D2I5	IFFO1_HUMAN			2	894	-			280					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.840C>T		.	.	.	.	.	.	.	.	.	.	G	3.895	-0.023200	0.07634	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.12	3.2	0.36748	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-10.551	9.9253	0.41489	0.1655:0.0:0.8345:0.0	.	.	.	.	L	12	.	.	P	-	2	0	IFFO1	6530212	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	1.085000	0.30840	2.129000	0.65627	0.485000	0.47835	CCC		0.582	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		11	43	0	0	0	1	0	11	43					A	6659951	G	A	6659951	2	1	95	1	0	0	0	0	0	0	0	1	7510	1219	43	2		2	IFFO1	12	6659951	Silent	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		6659951	127191944	13	1683											
FGD4	121512	broad.mit.edu	37	12	32778653	32778653	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr12:32778653A>T	ENST00000427716.2	+	14	2125	c.1701A>T	c.(1699-1701)aaA>aaT	p.K567N	FGD4_ENST00000525053.1_Missense_Mutation_p.K679N|FGD4_ENST00000546442.1_Missense_Mutation_p.K474N|FGD4_ENST00000534526.2_Missense_Mutation_p.K704N|FGD4_ENST00000531134.1_Missense_Mutation_p.K652N|FGD4_ENST00000266482.3_Missense_Mutation_p.K319N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	567					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTGTATGAAATGTAAAGAAC	0.378																																						uc010ske.2																			0		p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2035-2037)aaA>aaT		Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.							125	121	122					12																	32778653		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr12:32778653A>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1701A>T	12.37:g.32778653A>T	ENSP00000394487:p.Lys567Asn		Somatic				FGD4_uc001rlc.3_Missense_Mutation_p.K652N|FGD4_uc001rky.3_Missense_Mutation_p.K319N|FGD4_uc001rkz.3_Missense_Mutation_p.K567N|FGD4_uc001rla.3_Missense_Mutation_p.K223N|FGD4_uc001rlb.1_Non-coding_Transcript	p.K679N	NM_139241	NP_640334	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			13	2121	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		567			PH 2.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.2037A>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833434	0.71258	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.39	3.06	0.35304	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.117372	0.37761	N	0.001958	T	0.62768	0.2455	N	0.05280	-0.08	0.80722	D	1	P;P;D;P	0.67145	0.941;0.941;0.996;0.835	D;P;D;P	0.65443	0.926;0.871;0.935;0.549	T	0.62348	-0.6873	10	0.45353	T	0.12	-16.961	7.6891	0.28557	0.7702:0.0:0.2298:0.0	.	679;652;567;319	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	N	704;652;567;319;474;679	ENSP00000449273:K704N;ENSP00000431323:K652N;ENSP00000394487:K567N;ENSP00000266482:K319N;ENSP00000446695:K474N;ENSP00000433666:K679N	ENSP00000266482:K319N	K	+	3	2	FGD4	32669920	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.184000	0.42575	0.372000	0.24591	0.454000	0.30748	AAA		0.378	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		8	49	0	0	0	1	0	8	49					T	32778653	A	T	32778653	3	4	95	1	0	0	0	0	1	0	0	0	5835	98	4	5	1747	5	FGD4	12	32778653	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08	26118702	32778653	101073242	14	1684											
MARCH10	162333	broad.mit.edu	37	17	60837359	60837359	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr17:60837359A>C	ENST00000311269.5	-	4	493	c.219T>G	c.(217-219)agT>agG	p.S73R	MARCH10_ENST00000456609.2_Missense_Mutation_p.S73R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S73R|MARCH10_ENST00000544856.2_Missense_Mutation_p.S73R	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	73					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CATCCTCCTCACTAGAACTCT	0.423																																						uc010dds.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(217-219)agT>agG		Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.							179	154	162					17																	60837359		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60837359A>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.219T>G	17.37:g.60837359A>C	ENSP00000311496:p.Ser73Arg		Somatic				MARCH10_uc010ddr.3_Missense_Mutation_p.S73R|MARCH10_uc002jag.4_Missense_Mutation_p.S73R|MARCH10_uc002jah.2_Missense_Mutation_p.S73R	p.S73R	NM_152598	NP_689811	WXS	Illumina GAIIx	Phase_I	Q8NA82	MARHA_HUMAN			3	504	-			73					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.219T>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	A	9.208	1.030124	0.19512	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.23147	1.92;1.92;1.92	5.93	0.669	0.17918	.	1.179000	0.06361	N	0.711690	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	P;P;P	0.37864	0.475;0.61;0.475	B;B;B	0.35413	0.1;0.202;0.1	T	0.27054	-1.0085	10	0.54805	T	0.06	3.218	7.8661	0.29539	0.4534:0.4136:0.0:0.133	.	73;73;73	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	R	73	ENSP00000416177:S73R;ENSP00000311496:S73R;ENSP00000443746:S73R	ENSP00000311496:S73R	S	-	3	2	MARCH10	58191091	0.098000	0.21812	0.042000	0.18584	0.021000	0.10359	0.242000	0.18087	0.090000	0.17273	-0.313000	0.08912	AGT		0.423	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		13	52	0	0	0	1	0	13	52					C	60837359	A	C	60837359	3	2	95	1	0	0	0	0	1	0	0	0	9299	156	6	5	2239	5	MARCH10	17	60837359	Missense_Mutation	SNP	A	TCGA-DJ-A2Q3-01A-11D-A18F-08		60837359	20357851	15	1685											
GNAL	2774	broad.mit.edu	37	18	11753670	11753670	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr18:11753670G>A	ENST00000423027.3	+	3	583	c.262G>A	c.(262-264)Gat>Aat	p.D88N	GNAL_ENST00000269162.5_Missense_Mutation_p.D88N|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.D88N|GNAL_ENST00000334049.6_Missense_Mutation_p.D165N			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	88					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAATGTTAAAGATGCTATCGT	0.318																																						uc002kqc.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(493-495)Gat>Aat		Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.							67	68	67					18																	11753670		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity	g.chr18:11753670G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.262G>A	18.37:g.11753670G>A	ENSP00000408489:p.Asp88Asn		Somatic				GNAL_uc002kqd.2_Missense_Mutation_p.D88N|GNAL_uc010dkz.2_Missense_Mutation_p.D88N	p.D165N	NM_182978	NP_892023	WXS	Illumina GAIIx	Phase_I	P38405	GNAL_HUMAN			2	920	+			88					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.493G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243575	0.79912	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.82	5.82	0.92795	G protein alpha subunit, helical insertion (2);	0.044283	0.85682	D	0.000000	D	0.94231	0.8148	M	0.76574	2.34	0.80722	D	1	P;D	0.58970	0.776;0.984	P;D	0.64410	0.601;0.925	D	0.94100	0.7361	10	0.72032	D	0.01	.	20.0926	0.97825	0.0:0.0:1.0:0.0	.	88;165	P38405;Q86XU3	GNAL_HUMAN;.	N	27;165;88;88;88	ENSP00000334051:D165N;ENSP00000439023:D88N;ENSP00000269162:D88N;ENSP00000408489:D88N	ENSP00000269162:D88N	D	+	1	0	GNAL	11743670	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.471000	0.97696	2.745000	0.94114	0.561000	0.74099	GAT		0.318	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		11	16	0	0	0	1	0	11	16					A	11753670	G	A	11753670	3	1	95	1	0	0	0	0	1	0	0	0	6507	942	33	2	652	2	GNAL	18	11753670	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		11753670	66323578	16	1686											
UBXN6	80700	broad.mit.edu	37	19	4446104	4446104	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:4446104G>A	ENST00000301281.6	-	10	1266	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	CTB-50L17.7_ENST00000588798.1_RNA|MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.A328V	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	381	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCCTCCCGAGGCCAGCAGCTC	0.677																																						uc002man.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1141-1143)gCc>gTc		Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.							41	41	41					19																	4446104		2203	4300	6503	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446104G>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1142C>T	19.37:g.4446104G>A	ENSP00000301281:p.Ala381Val		Somatic				UBXN6_uc002mam.2_Missense_Mutation_p.A328V	p.A381V	NM_025241	NP_079517	WXS	Illumina GAIIx	Phase_I	Q9BZV1	UBXN6_HUMAN			9	1239	-			381			UBX.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.1142C>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961089	0.92791	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.40756	1.02;1.02	5.66	5.66	0.87406	UBX (3);	0.154726	0.56097	D	0.000027	T	0.54549	0.1865	L	0.46157	1.445	0.58432	D	0.999995	B;D	0.69078	0.321;0.997	B;D	0.65140	0.193;0.932	T	0.44236	-0.9341	10	0.30854	T	0.27	-33.1332	15.0391	0.71774	0.0:0.1526:0.8474:0.0	.	328;381	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	V	381;328	ENSP00000301281:A381V;ENSP00000378246:A328V	ENSP00000301281:A381V	A	-	2	0	UBXN6	4397104	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	4.805000	0.62561	2.679000	0.91253	0.561000	0.74099	GCC		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		8	36	0	0	0	1	0	8	36					A	4446104	G	A	4446104	3	1	95	1	0	0	0	0	1	0	0	0	16914	1203	42	2	191	2	UBXN6	19	4446104	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08		4446104	54682879	17	1687											
C19orf60	55049	broad.mit.edu	37	19	18701721	18701721	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:18701721C>T	ENST00000358607.6	+	4	588	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	C19orf60_ENST00000450195.2_Missense_Mutation_p.R149W|CRLF1_ENST00000594325.1_Intron	NM_001100418.1|NM_001100419.1	NP_001093888.1|NP_001093889.1	Q96EN9	CS060_HUMAN	chromosome 19 open reading frame 60	171																	GGACGCTGTACGGATGCAGCA	0.622																																						uc002njv.4																			0											c.(511-513)Cgg>Tgg		Homo sapiens chromosome 19 open reading frame 60 (C19orf60), transcript variant 1, mRNA.							34	39	37					19																	18701721		2110	4233	6343	SO:0001583	missense	55049						protein binding	g.chr19:18701721C>T	AK000857	CCDS42524.1, CCDS46019.1	19p13.11	2012-10-26			ENSG00000006015	ENSG00000006015			26098	protein-coding gene	gene with protein product						12477932	Standard	NM_001100419		Approved	FLJ20850, FLJ30108, FLJ34606, FLJ37391	uc010ebs.3	Q96EN9		ENST00000358607.6:c.511C>T	19.37:g.18701721C>T	ENSP00000351422:p.Arg171Trp		Somatic				C19orf60_uc002nju.2_Missense_Mutation_p.R183W|C19orf60_uc010ebs.3_Missense_Mutation_p.R149W	p.R171W	NM_001100418	NP_001093888	WXS	Illumina GAIIx	Phase_I	Q96EN9	CS060_HUMAN			3	628	+			171					E9PAS0|Q8NAX4|Q9NWI0	Missense_Mutation	SNP	ENST00000358607.6	37	c.511C>T	CCDS42524.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592501	0.46214	.	.	ENSG00000006015	ENST00000358607;ENST00000450195	.	.	.	3.43	1.13	0.20643	.	7739.210000	0.00628	N	0.000463	T	0.22126	0.0533	N	0.08118	0	0.09310	N	1	P;D;P	0.63880	0.831;0.993;0.947	B;P;B	0.46975	0.157;0.533;0.157	T	0.17561	-1.0365	9	0.72032	D	0.01	-0.9497	5.5047	0.16848	0.2293:0.5374:0.2334:0.0	.	149;171;183	E9PAS0;Q96EN9;Q96EN9-2	.;CS060_HUMAN;.	W	171;149	.	ENSP00000351422:R171W	R	+	1	2	C19orf60	18562721	0.005000	0.15991	0.006000	0.13384	0.006000	0.05464	0.186000	0.16978	0.386000	0.24997	0.655000	0.94253	CGG		0.622	C19orf60-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000465133.1	NM_017967		3	11	0	0	0	1	0	3	11					T	18701721	C	T	18701721	3	4	95	1	0	0	0	0	1	0	0	0	1942	527	19	1	525	1	C19orf60	19	18701721	Missense_Mutation	SNP	C	TCGA-DJ-A2Q3-01A-11D-A18F-08	14255617	18701721	40427262	18	1688											
TRPM4	54795	broad.mit.edu	37	19	49671841	49671841	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q3-01A-11D-A18F-08	TCGA-DJ-A2Q3-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddec4477-986f-45fd-9d67-3c0b60db69ce	75811819-5756-4255-9e6c-397b11987a25	g.chr19:49671841G>A	ENST00000252826.5	+	6	770	c.644G>A	c.(643-645)gGt>gAt	p.G215D	TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.G215D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	215					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGTGGCGCGGTGACCCGGAG	0.657																																						uc002pmw.3																			0		p.R214R(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(643-645)gGt>gAt		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.							49	48	49					19																	49671841		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671841G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.644G>A	19.37:g.49671841G>A	ENSP00000252826:p.Gly215Asp		Somatic				TRPM4_uc010emu.3_Missense_Mutation_p.G215D|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.G41D|TRPM4_uc010emv.3_Missense_Mutation_p.G100D|TRPM4_uc010yal.2_5'UTR	p.G215D	NM_017636	NP_060106	WXS	Illumina GAIIx	Phase_I	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	5	752	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	215					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.644G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	2.118	-0.402015	0.04865	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.02787	4.16;4.16	5.06	0.453	0.16639	.	1.274420	0.05279	N	0.519059	T	0.01523	0.0049	N	0.05177	-0.1	0.09310	N	0.999998	B;B;B	0.18610	0.029;0.006;0.017	B;B;B	0.18561	0.022;0.007;0.005	T	0.41413	-0.9510	10	0.05436	T	0.98	-4.741	6.7908	0.23699	0.3:0.1215:0.5785:0.0	.	41;215;215	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	D	215	ENSP00000252826:G215D;ENSP00000407492:G215D	ENSP00000252826:G215D	G	+	2	0	TRPM4	54363653	0.032000	0.19561	0.000000	0.03702	0.000000	0.00434	1.502000	0.35704	0.285000	0.22329	-1.093000	0.02169	GGT		0.657	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		12	37	0	0	0	1	0	12	37					A	49671841	G	A	49671841	3	1	95	1	0	0	0	0	1	0	0	0	16585	1261	44	2	666	2	TRPM4	19	49671841	Missense_Mutation	SNP	G	TCGA-DJ-A2Q3-01A-11D-A18F-08	30970120	49671841	9457142	19	1689											
DNAJC16	23341	broad.mit.edu	37	1	15863305	15863305	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:15863305A>T	ENST00000375847.3	+	4	734	c.570A>T	c.(568-570)gaA>gaT	p.E190D	DNAJC16_ENST00000375838.1_Missense_Mutation_p.E190D|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E190D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	190	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AACTGGAAGAATTGGGTAAGA	0.398																																						uc001aws.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(568-570)gaA>gaT		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.							54	54	54					1																	15863305		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15863305A>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.570A>T	1.37:g.15863305A>T	ENSP00000365007:p.Glu190Asp		Somatic				DNAJC16_uc001awr.1_Missense_Mutation_p.E190D|DNAJC16_uc001awt.3_5'UTR	p.E190D	NM_015291	NP_056106	WXS	Illumina GAIIx	Phase_I	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	3	690	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	190			Thioredoxin.		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.570A>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	A	8.818	0.936965	0.18206	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.38722	1.12;1.12;1.12	5.35	-3.51	0.04696	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.516553	0.21839	N	0.068349	T	0.15998	0.0385	N	0.12746	0.255	0.18873	N	0.999983	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.05178	-1.0901	10	0.32370	T	0.25	-3.0459	1.8329	0.03134	0.3094:0.2686:0.3035:0.1184	.	190;190	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	D	190	ENSP00000365007:E190D;ENSP00000364998:E190D;ENSP00000365009:E190D	ENSP00000364998:E190D	E	+	3	2	DNAJC16	15735892	0.000000	0.05858	0.109000	0.21407	0.159000	0.22180	-0.610000	0.05629	-0.842000	0.04195	-0.331000	0.08364	GAA		0.398	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		17	24	0	0	0	1	0	17	24					T	15863305	A	T	15863305	3	4	96	1	0	0	0	0	1	0	0	0	4635	98	4	5	580	5	DNAJC16	1	15863305	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		15863305	233387316	1	1690											
TTLL7	79739	broad.mit.edu	37	1	84376919	84376919	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:84376919T>C	ENST00000260505.8	-	15	2092	c.1715A>G	c.(1714-1716)aAt>aGt	p.N572S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	572					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTTTTCTTATTTTGGTACTC	0.338																																						uc001djc.3																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1714-1716)aAt>aGt		Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.							217	216	216					1																	84376919		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84376919T>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1715A>G	1.37:g.84376919T>C	ENSP00000260505:p.Asn572Ser		Somatic				TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript|HH834010_uc021ooz.1_5'Flank	p.N572S	NM_024686	NP_078962	WXS	Illumina GAIIx	Phase_I	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	14	2111	-			572					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1715A>G	CCDS690.2	.	.	.	.	.	.	.	.	.	.	T	2.713	-0.268382	0.05716	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03468	3.92	5.16	-2.11	0.07187	.	1.112010	0.06623	N	0.757751	T	0.00496	0.0016	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45948	-0.9226	10	0.06757	T	0.87	.	4.1003	0.10010	0.2396:0.2331:0.0:0.5273	.	572	Q6ZT98	TTLL7_HUMAN	S	572;349;572	ENSP00000260505:N572S	ENSP00000260505:N572S	N	-	2	0	TTLL7	84149507	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	-0.314000	0.08092	-0.271000	0.09272	-0.415000	0.06103	AAT		0.338	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		9	51	0	0	0	1	0	9	51					C	84376919	T	C	84376919	3	2	96	1	0	0	0	0	1	0	0	0	16729	1493	52	3	976	3	TTLL7	1	84376919	Missense_Mutation	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08	68513614	84376919	164873702	2	1691											
HRNR	388697	broad.mit.edu	37	1	152193154	152193154	+	Silent	SNP	C	C	G	rs369387932		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:152193154C>G	ENST00000368801.2	-	3	1026	c.951G>C	c.(949-951)ggG>ggC	p.G317G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	317					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)			TGGAGGAGTGCCCCGAACCGG	0.612																																						uc001ezt.1																			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.(949-951)ggG>ggC		Homo sapiens hornerin (HRNR), mRNA.							79	89	85					1																	152193154		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193154C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.951G>C	1.37:g.152193154C>G			Somatic					p.G317G	NM_001009931	NP_001009931	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1027	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		317					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.951G>C	CCDS30859.1																																																																																				0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		3	110	0	0	0	1	0	3	110					G	152193154	C	G	152193154	2	3	96	1	0	0	0	0	0	0	0	1	7359	726	26	4		4	HRNR	1	152193154	Silent	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	67816235	152193154	97057467	3	1692											
CDH10	1008	broad.mit.edu	37	5	24537754	24537754	+	Silent	SNP	T	T	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr5:24537754T>A	ENST00000264463.4	-	3	768	c.261A>T	c.(259-261)ggA>ggT	p.G87G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTTGAGTGATCCATCTCCTT	0.373										HNSCC(23;0.051)																												uc003jgr.2																			0		p.G87*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(259-261)ggA>ggT		Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.							66	65	66					5																	24537754		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537754T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.261A>T	5.37:g.24537754T>A		HNSCC(23;0.051)	Somatic				CDH10_uc011cnu.2_Non-coding_Transcript	p.G87G	NM_006727	NP_006718	WXS	Illumina GAIIx	Phase_I	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	767	-			87			Cadherin 1.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.261A>T	CCDS3892.1																																																																																				0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	13	0	0	0	1	0	6	13					A	24537754	T	A	24537754	2	1	96	1	0	0	0	0	0	0	0	1	3096	1422	50	5		5	CDH10	5	24537754	Silent	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08		24537754	156377506	4	1693											
UHRF1BP1	54887	broad.mit.edu	37	6	34826174	34826174	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr6:34826174A>G	ENST00000192788.5	+	14	2212	c.2041A>G	c.(2041-2043)Acc>Gcc	p.T681A	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T681A	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	681							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAGCCTAATACCCTCCCTCC	0.488																																						uc003oju.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(2041-2043)Acc>Gcc		Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.							121	116	118					6																	34826174		1916	4125	6041	SO:0001583	missense	54887							g.chr6:34826174A>G	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2041A>G	6.37:g.34826174A>G	ENSP00000192788:p.Thr681Ala		Somatic				UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	p.T681A	NM_017754	NP_060224	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			13	2275	+			681					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2041A>G	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	2.227	-0.377132	0.05000	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08008	3.14;3.14	5.15	-4.69	0.03299	.	0.767375	0.12260	N	0.484811	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.18276	T	0.48	0.0031	1.8094	0.03087	0.2728:0.3551:0.2417:0.1304	.	681	Q6BDS2	URFB1_HUMAN	A	681	ENSP00000192788:T681A;ENSP00000400628:T681A	ENSP00000192788:T681A	T	+	1	0	UHRF1BP1	34934152	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.398000	0.07259	-0.176000	0.10707	0.383000	0.25322	ACC		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		4	130	0	0	0	1	0	4	130					G	34826174	A	G	34826174	3	3	96	1	0	0	0	0	1	0	0	0	16965	391	14	3	2095	3	UHRF1BP1	6	34826174	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		34826174	136288893	5	1694											
PLXNA4	91584	broad.mit.edu	37	7	131870080	131870080	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:131870080C>G	ENST00000359827.3	-	16	4098	c.3136G>C	c.(3136-3138)Gag>Cag	p.E1046Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1046Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1046	IPT/TIG 3.				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						CATTCTGGCTCAATCCGCACG	0.547																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3136-3138)Gag>Cag		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							111	115	114					7																	131870080		2048	4195	6243	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131870080C>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3136G>C	7.37:g.131870080C>G	ENSP00000352882:p.Glu1046Gln		Somatic					p.E1046Q	NM_020911	NP_065962	WXS	Illumina GAIIx	Phase_I	Q9HCM2	PLXA4_HUMAN			15	3365	-			1046			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3136G>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347121	0.82022	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76968	-1.06;-1.06	5.6	5.6	0.85130	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.83659	0.0160	10	0.21014	T	0.42	.	19.6023	0.95568	0.0:1.0:0.0:0.0	.	1046	Q9HCM2	PLXA4_HUMAN	Q	1046	ENSP00000323194:E1046Q;ENSP00000352882:E1046Q	ENSP00000323194:E1046Q	E	-	1	0	PLXNA4	131520620	1.000000	0.71417	0.978000	0.43139	0.415000	0.31203	7.792000	0.85828	2.653000	0.90120	0.561000	0.74099	GAG		0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		3	60	0	0	0	1	0	3	60					G	131870080	C	G	131870080	3	3	96	1	0	0	0	0	1	0	0	0	12122	835	29	4	2616	4	PLXNA4	7	131870080	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08		131870080	27268583	6	1695											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	27	0	0	0	1	0	19	27					T	140453136	A	T	140453136	3	4	96	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08	8583056	140453136	18685527	7	1696											
KCNS2	3788	broad.mit.edu	37	8	99441073	99441073	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr8:99441073A>G	ENST00000287042.4	+	2	1216	c.866A>G	c.(865-867)aAc>aGc	p.N289S	KCNS2_ENST00000521839.1_Missense_Mutation_p.N289S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	289					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)			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)			ACTTTAGCCAACTTGGGCAGG	0.562																																					Pancreas(138;844 2489 9202 24627)	uc003yin.3																			0				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.(865-867)aAc>aGc		Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.							139	131	134					8																	99441073		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441073A>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.866A>G	8.37:g.99441073A>G	ENSP00000287042:p.Asn289Ser		Somatic				KCNS2_uc022azb.1_Missense_Mutation_p.N289S	p.N289S	NM_020697	NP_065748	WXS	Illumina GAIIx	Phase_I	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		1	1216	+	Breast(36;2.4e-06)		289					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.866A>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.882999	0.72410	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97455	-4.39;-4.39	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	L	0.47716	1.5	0.50039	D	0.999841	D	0.69078	0.997	D	0.79108	0.992	D	0.98335	1.0535	10	0.56958	D	0.05	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	289	Q9ULS6	KCNS2_HUMAN	S	289	ENSP00000287042:N289S;ENSP00000430712:N289S	ENSP00000287042:N289S	N	+	2	0	KCNS2	99510249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.235000	0.73313	0.533000	0.62120	AAC		0.562	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		5	69	0	0	0	1	0	5	69					G	99441073	A	G	99441073	3	3	96	1	0	0	0	0	1	0	0	0	8089	43	2	3	868	3	KCNS2	8	99441073	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		99441073	46922949	8	1697											
SEC16A	9919	broad.mit.edu	37	9	139371685	139371685	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr9:139371685A>C	ENST00000313050.7	-	1	456	c.383T>G	c.(382-384)tTg>tGg	p.L128W	SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000290037.6_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					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)		TGAAGGTGTCAATGCACCAGA	0.567																																						uc004chx.3																			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.(382-384)tTg>tGg		Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.							84	88	87					9																	139371685		2036	4181	6217	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane		g.chr9:139371685A>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.383T>G	9.37:g.139371685A>C	ENSP00000325827:p.Leu128Trp		Somatic				SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.L128W|SEC16A_uc010nbn.3_Missense_Mutation_p.L128W|SEC16A_uc010nbo.1_Missense_Mutation_p.L128W	p.L128W	NM_014866	NP_055681	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	2	692	-		Myeloproliferative disorder(178;0.0511)	2098					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000313050.7	37	c.383T>G	CCDS55351.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876786	0.33162	.	.	ENSG00000148396	ENST00000313050	T	0.24723	1.84	5.02	-1.11	0.09840	.	.	.	.	.	T	0.22044	0.0531	N	0.24115	0.695	0.09310	N	1	D	0.57257	0.979	P	0.49252	0.604	T	0.29852	-0.9998	8	.	.	.	.	12.8862	0.58045	0.2525:0.0:0.7475:0.0	.	128	F1T0I1	.	W	128	ENSP00000325827:L128W	.	L	-	2	0	SEC16A	138491506	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.165000	0.16564	-0.133000	0.11537	-0.274000	0.10170	TTG		0.567	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		37	55	0	0	0	1	0	37	55					C	139371685	A	C	139371685	3	2	96	1	0	0	0	0	1	0	0	0	13986	131	5	5	6810	5	SEC16A	9	139371685	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		139371685	1841746	9	1698											
OR52N4	390072	broad.mit.edu	37	11	5776224	5776224	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:5776224G>A	ENST00000317254.3	+	1	302	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	85						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)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAAGCCCTCTGCATCTTCTGG	0.468																																						uc001mbu.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(253-255)tGc>tAc		Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.							141	146	144					11																	5776224		2199	4296	6495	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776224G>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.254G>A	11.37:g.5776224G>A	ENSP00000323224:p.Cys85Tyr		Somatic				TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	p.C85Y	NM_001005175	NP_001005175	WXS	Illumina GAIIx	Phase_I	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	0	302	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	85					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.254G>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732342	0.30684	.	.	ENSG00000181074	ENST00000317254	T	0.03004	4.08	5.93	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	1.292380	0.05255	N	0.514769	T	0.05410	0.0143	L	0.37697	1.125	0.09310	N	1	B	0.28971	0.229	B	0.38296	0.27	T	0.47289	-0.9129	10	0.62326	D	0.03	.	3.6464	0.08187	0.0753:0.1954:0.3621:0.3673	.	85	Q8NGI2	O52N4_HUMAN	Y	85	ENSP00000323224:C85Y	ENSP00000323224:C85Y	C	+	2	0	OR52N4	5732800	0.000000	0.05858	0.974000	0.42286	0.986000	0.74619	-1.974000	0.01499	0.383000	0.24910	0.551000	0.68910	TGC		0.468	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		31	37	0	0	0	1	0	31	37					A	5776224	G	A	5776224	3	1	96	1	0	0	0	0	1	0	0	0	11129	1319	46	2	256	2	OR52N4	11	5776224	Missense_Mutation	SNP	G	TCGA-DJ-A2Q4-01A-21D-A18F-08		5776224	129230292	10	1699											
DENND5A	23258	broad.mit.edu	37	11	9161345	9161345	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:9161345T>C	ENST00000328194.3	-	23	4057	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	DENND5A_ENST00000527700.1_Missense_Mutation_p.H589R|DENND5A_ENST00000530044.1_Missense_Mutation_p.T1235A|SCUBE2_ENST00000534295.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1246	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCATACATGTGTGCAGTGAT	0.542																																						uc001mhl.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3736-3738)cAc>cGc		Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.							141	102	115					11																	9161345		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9161345T>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3737A>G	11.37:g.9161345T>C	ENSP00000328524:p.His1246Arg		Somatic				DENND5A_uc001mhk.3_Missense_Mutation_p.H589R|DENND5A_uc010rbw.2_Missense_Mutation_p.T1235A	p.H1246R	NM_015213	NP_056028	WXS	Illumina GAIIx	Phase_I	Q6IQ26	DEN5A_HUMAN			22	3994	-			1246			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.3737A>G	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.161|5.161	0.215222|0.215222	0.09810|0.09810	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000527700|ENST00000530044;ENST00000528725;ENST00000533737;ENST00000525784	T;T|T	0.09723|0.03745	2.95;2.95|3.82	5.71|5.71	4.55|4.55	0.56014|0.56014	RUN (3);|.	0.095199|.	0.85682|.	D|.	0.000000|.	T|T	0.01029|0.01029	0.0034|0.0034	N|N	0.00162|0.00162	-1.95|-1.95	0.36176|0.36176	D|D	0.849086|0.849086	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.45600|0.45600	-0.9250|-0.9250	10|8	0.09084|.	T|.	0.74|.	.|.	12.2264|12.2264	0.54463|0.54463	0.1271:0.0:0.0:0.8729|0.1271:0.0:0.0:0.8729	.|.	1246|1235	Q6IQ26|E9PS91	DEN5A_HUMAN|.	R|A	1246;589|1235;145;154;225	ENSP00000328524:H1246R;ENSP00000432549:H589R|ENSP00000435866:T1235A	ENSP00000328524:H1246R|.	H|T	-|-	2|1	0|0	DENND5A|DENND5A	9117921|9117921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.120000|5.120000	0.64685|0.64685	2.165000|2.165000	0.68154|0.68154	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.542	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		14	25	0	0	0	1	0	14	25					C	9161345	T	C	9161345	3	2	96	1	0	0	0	0	1	0	0	0	4436	1696	59	3	130	3	DENND5A	11	9161345	Missense_Mutation	SNP	T	TCGA-DJ-A2Q4-01A-21D-A18F-08	3385121	9161345	125845171	11	1700											
CD248	57124	broad.mit.edu	37	11	66082772	66082772	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:66082772C>A	ENST00000311330.3	-	1	1743	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	576	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGCCTGGGTTCTGAGGACAAG	0.607																																						uc001ohm.1																			0		p.L575L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1726-1728)aGa>aTa		Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	Cefalotin(DB00456)						119	131	127					11																	66082772		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082772C>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1727G>T	11.37:g.66082772C>A	ENSP00000308117:p.Arg576Ile		Somatic					p.R576I	NM_020404	NP_065137	WXS	Illumina GAIIx	Phase_I	Q9HCU0	CD248_HUMAN			0	1744	-			576			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1727G>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465408	0.43839	.	.	ENSG00000174807	ENST00000311330	D	0.89415	-2.51	4.41	1.14	0.20703	.	6.584470	0.00718	U	0.000870	T	0.80660	0.4665	N	0.22421	0.69	0.09310	N	1	P	0.36438	0.553	B	0.32465	0.146	T	0.71576	-0.4551	10	0.59425	D	0.04	-0.0494	3.3964	0.07307	0.0:0.3604:0.2091:0.4305	.	576	Q9HCU0	CD248_HUMAN	I	576	ENSP00000308117:R576I	ENSP00000308117:R576I	R	-	2	0	CD248	65839348	.	.	0.088000	0.20740	0.283000	0.27025	.	.	0.364000	0.24374	0.460000	0.39030	AGA		0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		37	48	0	0	0	1	0	37	48					A	66082772	C	A	66082772	3	1	96	1	0	0	0	0	1	0	0	0	2989	913	32	4	550	4	CD248	11	66082772	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	56921427	66082772	68923744	12	1701											
CD163	9332	broad.mit.edu	37	12	7651554	7651554	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr12:7651554C>T	ENST00000359156.4	-	4	890	c.688G>A	c.(688-690)Gga>Aga	p.G230R	CD163_ENST00000396620.3_Missense_Mutation_p.G230R|CD163_ENST00000541972.1_Missense_Mutation_p.G218R|CD163_ENST00000432237.2_Missense_Mutation_p.G230R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	230	SRCR 2. {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)	GACTCATTTCCGTTGCATATA	0.433																																						uc001qsz.3																			0		p.N229K(1)		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.(688-690)Gga>Aga		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							194	182	186					12																	7651554		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651554C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.688G>A	12.37:g.7651554C>T	ENSP00000352071:p.Gly230Arg		Somatic				CD163_uc001qta.3_Missense_Mutation_p.G230R|CD163_uc009zfw.2_Missense_Mutation_p.G230R	p.G230R	NM_004244	NP_004235	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			3	816	-			230			SRCR 2.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.688G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942641	0.73672	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.16	5.16	0.70880	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.082610	0.49916	D	0.000121	T	0.74313	0.3700	H	0.94385	3.53	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82220	-0.0565	10	0.87932	D	0	.	16.5049	0.84268	0.0:1.0:0.0:0.0	.	230;230;230	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	230;218;230;230	ENSP00000352071:G230R;ENSP00000444071:G218R;ENSP00000379863:G230R;ENSP00000403885:G230R	ENSP00000352071:G230R	G	-	1	0	CD163	7542821	1.000000	0.71417	0.948000	0.38648	0.426000	0.31534	7.715000	0.84713	2.573000	0.86826	0.650000	0.86243	GGA		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	183	0	0	0	1	0	10	183					T	7651554	C	T	7651554	3	4	96	1	0	0	0	0	1	0	0	0	2967	661	23	1	2834	1	CD163	12	7651554	Missense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08		7651554	126200341	13	1702											
DNAH3	55567	broad.mit.edu	37	16	21170720	21170720	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:21170720G>A	ENST00000261383.3	-	1	42	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	DNAH3_ENST00000415178.1_Missense_Mutation_p.P15S|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000574092.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	15	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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCGGATGGGGAGGGGCGGCC	0.622																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(43-45)Ccc>Tcc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							81	91	88					16																	21170720		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21170720G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.43C>T	16.37:g.21170720G>A	ENSP00000261383:p.Pro15Ser		Somatic				TMEM159_uc010vbf.2_Intron|TMEM159_uc002dih.4_Intron|TMEM159_uc002dif.4_Intron|TMEM159_uc002dig.4_Intron	p.P15S	NM_017539	NP_060009	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	0	43	-			15			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.43C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705379	0.30232	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.21191	2.02;2.16	2.2	-3.25	0.05079	.	.	.	.	.	T	0.11239	0.0274	N	0.22421	0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.29640	-1.0005	9	0.87932	D	0	.	3.5959	0.08006	0.5521:0.2084:0.2395:0.0	.	15	Q8TD57	DYH3_HUMAN	S	15	ENSP00000261383:P15S;ENSP00000394245:P15S	ENSP00000261383:P15S	P	-	1	0	DNAH3	21078221	0.001000	0.12720	0.022000	0.16811	0.178000	0.23041	0.296000	0.19083	-0.829000	0.04268	-0.264000	0.10439	CCC		0.622	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		48	68	0	0	0	1	0	48	68					A	21170720	G	A	21170720	3	1	96	1	0	0	0	0	1	0	0	0	4603	1174	41	2	12554	2	DNAH3	16	21170720	Missense_Mutation	SNP	G	TCGA-DJ-A2Q4-01A-21D-A18F-08		21170720	69184033	14	1703											
NUP93	9688	broad.mit.edu	37	16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					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)|nuclear pore complex assembly (GO:0051292)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	uc002eka.3																			1	Substitution - Nonsense(1)	p.E14K(3)|p.Q15*(2)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.							67	65	66					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*		Somatic					p.Q15*	NM_014669	NP_001229725	WXS	Illumina GAIIx	Phase_I	Q8N1F7	NUP93_HUMAN			1	164	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		17	38	0	0	0	1	0	17	38					T	56782202	C	T	56782202	4	4	96	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q4-01A-21D-A18F-08	35611482	56782202	33572551	15	1704											
CWC25	54883	broad.mit.edu	37	17	36959028	36959028	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr17:36959028A>G	ENST00000225428.5	-	9	1385	c.1088T>C	c.(1087-1089)cTc>cCc	p.L363P	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Missense_Mutation_p.L300P	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	363										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATGCCTCTTGAGGATGTTCAG	0.517																																						uc002hqu.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1087-1089)cTc>cCc		Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.							202	206	205					17																	36959028		2011	4179	6190	SO:0001583	missense	54883							g.chr17:36959028A>G	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"coiled-coil domain containing 49"	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1088T>C	17.37:g.36959028A>G	ENSP00000225428:p.Leu363Pro		Somatic				CWC25_uc010wdv.2_Missense_Mutation_p.L300P|CWC25_uc010wdw.1_Non-coding_Transcript|PIP4K2B_uc002hqs.3_5'Flank|PIP4K2B_uc021twj.1_5'Flank	p.L363P	NM_017748	NP_060218	WXS	Illumina GAIIx	Phase_I	Q9NXE8	CWC25_HUMAN			8	1241	-			363					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.1088T>C	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919323	0.73098	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.71	5.71	0.89125	.	0.060269	0.64402	D	0.000003	T	0.74007	0.3660	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65233	0.933;0.889	T	0.74551	-0.3628	9	0.46703	T	0.11	.	14.8062	0.69959	1.0:0.0:0.0:0.0	.	300;363	B4DJK2;Q9NXE8	.;CWC25_HUMAN	P	363;300	.	ENSP00000225428:L363P	L	-	2	0	CWC25	34212554	1.000000	0.71417	0.875000	0.34327	0.377000	0.30045	8.619000	0.90938	2.186000	0.69663	0.533000	0.62120	CTC		0.517	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		3	114	0	0	0	1	0	3	114					G	36959028	A	G	36959028	3	3	96	1	0	0	0	0	1	0	0	0	4069	304	11	3	197	3	CWC25	17	36959028	Missense_Mutation	SNP	A	TCGA-DJ-A2Q4-01A-21D-A18F-08		36959028	44236182	16	1705											
DLG1	1739	broad.mit.edu	37	3	196857455	196857455	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr3:196857455C>T	ENST00000419354.1	-	12	1493	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	DLG1_ENST00000448528.2_Missense_Mutation_p.A403T|DLG1_ENST00000443183.1_Missense_Mutation_p.A287T|DLG1_ENST00000357674.4_Missense_Mutation_p.A370T|DLG1_ENST00000346964.2_Missense_Mutation_p.A403T|DLG1_ENST00000452595.1_Missense_Mutation_p.A287T|DLG1_ENST00000450955.1_Missense_Mutation_p.A370T|DLG1_ENST00000422288.1_Missense_Mutation_p.A352T|DLG1_ENST00000314062.3_Missense_Mutation_p.A352T|DLG1_ENST00000392382.2_Missense_Mutation_p.A370T			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	403	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTGGGTTTTGCCACTTTCAAA	0.343																																						uc003fxn.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1207-1209)Gca>Aca		Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 2, mRNA.							178	156	164					3																	196857455		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding	g.chr3:196857455C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1207G>A	3.37:g.196857455C>T	ENSP00000407531:p.Ala403Thr		Somatic				DLG1_uc011bub.2_Missense_Mutation_p.A287T|DLG1_uc011buc.2_Missense_Mutation_p.A287T|DLG1_uc011bud.2_Missense_Mutation_p.A86T|DLG1_uc003fxo.4_Missense_Mutation_p.A403T|DLG1_uc011bue.2_Missense_Mutation_p.A370T|DLG1_uc010ial.3_Missense_Mutation_p.A403T|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.A370T|DLG1_uc010ian.2_Missense_Mutation_p.A270T	p.A403T	NM_004087	NP_004078	WXS	Illumina GAIIx	Phase_I	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	11	1397	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	403			PDZ 2.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.1207G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302203	0.95601	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.65	5.65	0.86999	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	M	0.78049	2.395	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.76;0.978;1.0;1.0;1.0;0.962;1.0	P;P;D;D;D;P;D	0.87578	0.644;0.854;0.998;0.998;0.998;0.841;0.998	T	0.20605	-1.0270	10	0.38643	T	0.18	.	18.7045	0.91632	0.0:1.0:0.0:0.0	.	370;287;287;287;370;403;403	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	T	403;403;370;403;352;403;287;352;403;287;370;370;212	ENSP00000345731:A403T;ENSP00000350303:A370T;ENSP00000321087:A352T;ENSP00000407531:A403T;ENSP00000398939:A287T;ENSP00000413238:A352T;ENSP00000391732:A403T;ENSP00000396658:A287T;ENSP00000376187:A370T;ENSP00000411278:A370T;ENSP00000398702:A212T	ENSP00000321087:A352T	A	-	1	0	DLG1	198341852	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.445000	0.80570	2.667000	0.90743	0.455000	0.32223	GCA		0.343	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		4	55	0	0	0	1	0	4	55					T	196857455	C	T	196857455	3	4	97	1	0	0	0	0	1	0	0	0	4554	739	26	2	1671	2	DLG1	3	196857455	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		196857455	1164975	1	1706											
TRPC7	57113	broad.mit.edu	37	5	135583307	135583307	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr5:135583307C>A	ENST00000513104.1	-	7	1978	c.1696G>T	c.(1696-1698)Ggg>Tgg	p.G566W	TRPC7_ENST00000355180.3_Missense_Mutation_p.G505W|TRPC7_ENST00000426057.2_Missense_Mutation_p.G450W	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	566					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGGGGCCCAAAACTCTCG	0.488																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1696-1698)Ggg>Tgg		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							135	137	136					5																	135583307		1956	4168	6124	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583307C>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1696G>T	5.37:g.135583307C>A	ENSP00000426070:p.Gly566Trp		Somatic				TRPC7_uc010jef.2_Missense_Mutation_p.G502W|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.G117W|TRPC7_uc010jeh.2_Missense_Mutation_p.G505W|TRPC7_uc010jei.2_Missense_Mutation_p.G450W	p.G566W	NM_020389	NP_065122	WXS	Illumina GAIIx	Phase_I	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1918	-			566					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1696G>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.790446|4.790446	0.90367|0.90367	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.98684|.	-5.07;-5.07;-5.07|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Ion transport (1);|.	0.050946|.	0.85682|.	D|.	0.000000|.	D|D	0.88089|0.88089	0.6343|0.6343	H|H	0.95260|0.95260	3.645|3.645	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;1.0;1.0|.	D|D	0.90560|0.90560	0.4515|0.4515	10|5	0.87932|.	D|.	0|.	-21.9262|-21.9262	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	450;505;511;566|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	W|L	505;450;566;566|449;504;510	ENSP00000347312:G505W;ENSP00000441628:G450W;ENSP00000426070:G566W|.	ENSP00000265193:G566W|.	G|W	-|-	1|2	0|0	TRPC7|TRPC7	135611206|135611206	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.488	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		5	108	0	0	0	1	0	5	108					A	135583307	C	A	135583307	3	1	97	1	0	0	0	0	1	0	0	0	16581	594	21	4	916	4	TRPC7	5	135583307	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		135583307	45331953	2	1707											
CASD1	64921	broad.mit.edu	37	7	94183835	94183835	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:94183835C>T	ENST00000297273.4	+	17	2362	c.2075C>T	c.(2074-2076)gCc>gTc	p.A692V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	692						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGGATATGCCCGTTCAGTT	0.303																																						uc003uni.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2074-2076)gCc>gTc		Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.							147	149	148					7																	94183835		2202	4300	6502	SO:0001583	missense	64921					integral to membrane		g.chr7:94183835C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2075C>T	7.37:g.94183835C>T	ENSP00000297273:p.Ala692Val		Somatic				CASD1_uc003unj.4_Missense_Mutation_p.A692V	p.A692V	NM_022900	NP_075051	WXS	Illumina GAIIx	Phase_I	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	2302	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		692					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.2075C>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519799	0.44866	.	.	ENSG00000127995	ENST00000297273	T	0.41400	1.0	5.3	4.4	0.53042	.	0.107082	0.64402	D	0.000008	T	0.31482	0.0798	L	0.29908	0.895	0.42683	D	0.993556	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.09574	-1.0668	10	0.42905	T	0.14	.	12.6549	0.56782	0.0:0.8716:0.0:0.1284	.	692;692	Q8WZ77;Q96PB1	.;CASD1_HUMAN	V	692	ENSP00000297273:A692V	ENSP00000297273:A692V	A	+	2	0	CASD1	94021771	0.995000	0.38212	1.000000	0.80357	0.888000	0.51559	3.034000	0.49751	2.651000	0.90000	0.585000	0.79938	GCC		0.303	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		4	57	0	0	0	1	0	4	57					T	94183835	C	T	94183835	3	4	97	1	0	0	0	0	1	0	0	0	2664	739	26	2	2141	2	CASD1	7	94183835	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		94183835	64954828	3	1708											
CTTNBP2	83992	broad.mit.edu	37	7	117431643	117431643	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:117431643C>T	ENST00000160373.3	-	4	1698	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	536	Pro-rich.				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)		TCTGTCAACTCGTGCTACACC	0.547																																						uc003vjf.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.(1606-1608)cGa>cAa		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							103	108	106					7																	117431643		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431643C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1607G>A	7.37:g.117431643C>T	ENSP00000160373:p.Arg536Gln		Somatic					p.R536Q	NM_033427	NP_219499	WXS	Illumina GAIIx	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	1699	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		536			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1607G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491610	0.84962	.	.	ENSG00000077063	ENST00000160373	D	0.90788	-2.73	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.89478	3.035	0.48830	D	0.999712	D	0.89917	1.0	D	0.85130	0.997	D	0.96357	0.9263	10	0.72032	D	0.01	-1.8526	19.9756	0.97304	0.0:1.0:0.0:0.0	.	536	Q8WZ74	CTTB2_HUMAN	Q	536	ENSP00000160373:R536Q	ENSP00000160373:R536Q	R	-	2	0	CTTNBP2	117218879	1.000000	0.71417	0.986000	0.45419	0.696000	0.40369	7.445000	0.80570	2.793000	0.96121	0.563000	0.77884	CGA		0.547	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		33	102	0	0	0	1	0	33	102					T	117431643	C	T	117431643	3	4	97	1	0	0	0	0	1	0	0	0	4045	884	31	1	3464	1	CTTNBP2	7	117431643	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08	23247808	117431643	41707020	4	1709											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	41	0	0	0	1	0	8	41					T	140453136	A	T	140453136	3	4	97	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q5-01A-11D-A18F-08	23021493	140453136	18685527	5	1710											
ITPR2	3709	broad.mit.edu	37	12	26818947	26818947	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr12:26818947C>T	ENST00000381340.3	-	14	1863	c.1447G>A	c.(1447-1449)Gtt>Att	p.V483I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	483					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)	p.V483F(1)	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)	ACATCAGCAACAAAGAATATG	0.338																																						uc001rhg.3																		ETV6/ITPR2(2)	1	Substitution - Missense(1)	p.V483F(2)	endometrium(1)	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.(1447-1449)Gtt>Att		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							88	79	82					12																	26818947		1827	4086	5913	SO:0001583	missense	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.chr12:26818947C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1447G>A	12.37:g.26818947C>T	ENSP00000370744:p.Val483Ile		Somatic					p.V483I	NM_002223	NP_002214	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			13	1864	-	Colorectal(261;0.0847)		483					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1447G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327969	0.60743	.	.	ENSG00000123104	ENST00000381340	D	0.89617	-2.54	5.27	5.27	0.74061	Intracellular calcium-release channel (1);	0.058395	0.64402	D	0.000002	D	0.90707	0.7084	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88620	0.3162	10	0.26408	T	0.33	.	19.0749	0.93156	0.0:1.0:0.0:0.0	.	483	Q14571	ITPR2_HUMAN	I	483	ENSP00000370744:V483I	ENSP00000370744:V483I	V	-	1	0	ITPR2	26710214	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.916000	0.69981	2.716000	0.92895	0.591000	0.81541	GTT		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	47	0	0	0	1	0	18	47					T	26818947	C	T	26818947	3	4	97	1	0	0	0	0	1	0	0	0	7921	478	17	2	6834	2	ITPR2	12	26818947	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		26818947	107032948	6	1711											
CYP1A2	1544	broad.mit.edu	37	15	75043604	75043604	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr15:75043604C>G	ENST00000343932.4	+	3	969	c.906C>G	c.(904-906)atC>atG	p.I302M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	302					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	GCAACCTCATCCCACAGGAGA	0.562																																						uc002ayr.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(904-906)atC>atG		Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						137	112	120					15																	75043604		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75043604C>G	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.906C>G	15.37:g.75043604C>G	ENSP00000342007:p.Ile302Met		Somatic					p.I302M	NM_000761	NP_000752	WXS	Illumina GAIIx	Phase_I	P05177	CP1A2_HUMAN			2	970	+			302					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.906C>G	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	2.142	-0.396626	0.04899	.	.	ENSG00000140505	ENST00000343932	T	0.66638	-0.22	4.85	-1.92	0.07618	.	0.339988	0.28354	U	0.015651	T	0.52885	0.1762	L	0.51914	1.62	0.28844	N	0.896431	B	0.18310	0.027	B	0.30401	0.115	T	0.40478	-0.9561	10	0.30078	T	0.28	.	4.3044	0.10940	0.1114:0.4225:0.3271:0.139	.	302	P05177-2	.	M	302	ENSP00000342007:I302M	ENSP00000342007:I302M	I	+	3	3	CYP1A2	72830657	0.813000	0.29090	0.304000	0.25085	0.057000	0.15508	0.282000	0.18829	0.002000	0.14630	-0.379000	0.06801	ATC		0.562	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		3	67	0	0	0	1	0	3	67					G	75043604	C	G	75043604	3	3	97	1	0	0	0	0	1	0	0	0	4150	845	30	4	912	4	CYP1A2	15	75043604	Missense_Mutation	SNP	C	TCGA-DJ-A2Q5-01A-11D-A18F-08		75043604	27487788	7	1712											
DHX8	1659	broad.mit.edu	37	17	41582066	41582066	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q5-01A-11D-A18F-08	TCGA-DJ-A2Q5-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3352274-8864-4367-869d-dc6d790e5fda	f0edc1f8-7961-4410-b8f5-1bba9fbf379b	g.chr17:41582066A>G	ENST00000262415.3	+	12	1673	c.1601A>G	c.(1600-1602)gAt>gGt	p.D534G	DHX8_ENST00000540306.1_Missense_Mutation_p.D534G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	534					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCCCAATGATATTCCTGAG	0.498																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1600-1602)gAt>gGt		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.							187	188	188					17																	41582066		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	g.chr17:41582066A>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1601A>G	17.37:g.41582066A>G	ENSP00000262415:p.Asp534Gly		Somatic				DHX8_uc010wif.1_Missense_Mutation_p.D443G|DHX8_uc010wig.2_Missense_Mutation_p.D534G	p.D534G	NM_004941	NP_004932	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	11	1673	+		Breast(137;0.00908)	534						Missense_Mutation	SNP	ENST00000262415.3	37	c.1601A>G	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488961	0.64074	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.09350	2.99;2.99	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	M	0.75777	2.31	0.80722	D	1	P;B	0.46952	0.887;0.003	P;B	0.45310	0.476;0.005	T	0.01294	-1.1393	10	0.62326	D	0.03	.	14.5333	0.67942	1.0:0.0:0.0:0.0	.	534;534	F5H658;Q14562	.;DHX8_HUMAN	G	534	ENSP00000437886:D534G;ENSP00000262415:D534G	ENSP00000262415:D534G	D	+	2	0	DHX8	38937592	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.229000	0.95273	2.043000	0.60533	0.454000	0.30748	GAT		0.498	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			6	202	0	0	0	1	0	6	202					G	41582066	A	G	41582066	3	3	97	1	0	0	0	0	1	0	0	0	4515	333	12	3	1647	3	DHX8	17	41582066	Missense_Mutation	SNP	A	TCGA-DJ-A2Q5-01A-11D-A18F-08		41582066	39613144	8	1713											
ZNF804A	91752	broad.mit.edu	37	2	185802431	185802431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:185802431C>T	ENST00000302277.6	+	4	2902	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	770							metal ion binding (GO:0046872)	p.R770*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGATTCTATCGAAAACGTAG	0.338																																						uc002uph.3																			1	Substitution - Nonsense(1)	p.R770Q(2)|p.R770*(2)	endometrium(1)	NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2308-2310)Cga>Tga		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							53	55	55					2																	185802431		2203	4299	6502	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185802431C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2308C>T	2.37:g.185802431C>T	ENSP00000303252:p.Arg770*		Somatic					p.R770*	NM_194250	NP_919226	WXS	Illumina GAIIx	Phase_I	Q7Z570	Z804A_HUMAN			3	2902	+			770					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2308C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	44	10.526186	0.99421	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.96	5.96	0.96718	.	0.163547	0.29737	N	0.011328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2457	15.7954	0.78407	0.1364:0.8636:0.0:0.0	.	.	.	.	X	770	.	ENSP00000303252:R770X	R	+	1	2	ZNF804A	185510676	0.676000	0.27567	0.912000	0.35992	0.964000	0.63967	0.013000	0.13310	2.826000	0.97356	0.655000	0.94253	CGA		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		16	66	0	0	0	1	0	16	66					T	185802431	C	T	185802431	4	4	98	1	0	0	0	0	0	1	0	0	18167	876	31	1	2322	1	ZNF804A	2	185802431	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		185802431	57396942	1	1714											
ITM2C	81618	broad.mit.edu	37	2	231740375	231740375	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:231740375A>G	ENST00000326427.6	+	3	428	c.302A>G	c.(301-303)gAg>gGg	p.E101G	ITM2C_ENST00000335005.6_Missense_Mutation_p.E54G|ITM2C_ENST00000409704.2_Missense_Mutation_p.E39G|ITM2C_ENST00000326407.6_Missense_Mutation_p.E101G|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	101					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGCTGTATGAGGACTCCCTG	0.567																																						uc002vqz.3																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(301-303)gAg>gGg		Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.							180	150	160					2																	231740375		2203	4300	6503	SO:0001583	missense	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231740375A>G	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.302A>G	2.37:g.231740375A>G	ENSP00000322730:p.Glu101Gly		Somatic				ITM2C_uc002vra.3_Missense_Mutation_p.E54G|ITM2C_uc002vrb.3_Missense_Mutation_p.E101G|ITM2C_uc002vrc.3_5'UTR|ITM2C_uc002vrd.3_5'UTR	p.E101G	NM_030926	NP_112188	WXS	Illumina GAIIx	Phase_I	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	422	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	101					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	37	c.302A>G	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992617	0.74703	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000326407;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T;T	0.51817	1.27;0.76;1.72;0.69;1.63;0.76;1.37;0.76	5.02	5.02	0.67125	.	0.054454	0.64402	D	0.000001	T	0.58177	0.2104	L	0.59436	1.845	0.54753	D	0.999987	D;P;D	0.71674	0.989;0.952;0.998	P;P;P	0.61592	0.891;0.523;0.864	T	0.55679	-0.8103	10	0.31617	T	0.26	-20.5712	11.0656	0.47974	1.0:0.0:0.0:0.0	.	101;54;101	Q9NQX7-3;Q9NQX7-2;Q9NQX7	.;.;ITM2C_HUMAN	G	101;39;101;54;101;39;39;39	ENSP00000390655:E101G;ENSP00000440295:E39G;ENSP00000322730:E101G;ENSP00000335121:E54G;ENSP00000322100:E101G;ENSP00000444899:E39G;ENSP00000387242:E39G;ENSP00000403257:E39G	ENSP00000322100:E101G	E	+	2	0	ITM2C	231448619	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.125000	0.71627	2.115000	0.64714	0.482000	0.46254	GAG		0.567	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		3	170	0	0	0	1	0	3	170					G	231740375	A	G	231740375	3	3	98	1	0	0	0	0	1	0	0	0	7914	304	11	3	312	3	ITM2C	2	231740375	Missense_Mutation	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08	45937944	231740375	11458998	2	1715											
PRICKLE2	166336	broad.mit.edu	37	3	64133074	64133074	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr3:64133074C>T	ENST00000295902.6	-	7	1677	c.1092G>A	c.(1090-1092)cgG>cgA	p.R364R	PRICKLE2_ENST00000564377.1_Silent_p.R420R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	364					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGGCTGACAGCCGGTTAGAAC	0.617																																						uc003dmf.3																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1090-1092)cgG>cgA		Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.							93	106	102					3																	64133074		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133074C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1092G>A	3.37:g.64133074C>T			Somatic					p.R364R	NM_198859	NP_942559	WXS	Illumina GAIIx	Phase_I	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	6	1678	-		Lung NSC(201;0.136)	364					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.1092G>A	CCDS2902.1																																																																																				0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		5	137	0	0	0	1	0	5	137					T	64133074	C	T	64133074	2	4	98	1	0	0	0	0	0	0	0	1	12487	726	26	2		2	PRICKLE2	3	64133074	Silent	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		64133074	133889356	3	1716											
MARCH6	10299	broad.mit.edu	37	5	10414577	10414577	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr5:10414577A>G	ENST00000274140.5	+	20	2061	c.1929A>G	c.(1927-1929)acA>acG	p.T643T	MARCH6_ENST00000449913.2_Silent_p.T595T|MARCH6_ENST00000503788.1_Silent_p.T538T|MARCH6_ENST00000510792.1_Silent_p.T341T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	643					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						TGTGTATAACATTACTGATTG	0.348																																						uc003jet.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1927-1929)acA>acG		Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.							237	208	218					5																	10414577		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10414577A>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1929A>G	5.37:g.10414577A>G			Somatic				MARCH6_uc011cmu.1_Silent_p.T595T|MARCH6_uc003jeu.1_Silent_p.T341T|MARCH6_uc011cmv.1_Silent_p.T538T	p.T643T	NM_005885	NP_005876	WXS	Illumina GAIIx	Phase_I	O60337	MARH6_HUMAN			19	2112	+			643					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1929A>G	CCDS34135.1																																																																																				0.348	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		4	82	0	0	0	1	0	4	82					G	10414577	A	G	10414577	2	3	98	1	0	0	0	0	0	0	0	1	9305	204	8	3		3	MARCH6	5	10414577	Silent	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08		10414577	170500683	4	1717											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	45	0	0	0	1	0	27	45					T	140453136	A	T	140453136	3	4	98	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q6-01A-11D-A18F-08		140453136	18685527	5	1718											
FAM22F	54754	broad.mit.edu	37	9	97084601	97084601	+	Nonsense_Mutation	SNP	G	G	A	rs376058940		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr9:97084601G>A	ENST00000253262.4	-	3	744	c.724C>T	c.(724-726)Cga>Tga	p.R242*	NUTM2F_ENST00000341207.4_Nonsense_Mutation_p.R242*|NUTM2F_ENST00000335456.7_Nonsense_Mutation_p.R242*	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	242																	GCCAGGGATCGGAGAACTGGG	0.632																																						uc004aup.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19						c.(724-726)Cga>Tga		Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.		G	stop/ARG	0,2600		0,0,1300	38	42	41		724	0.2	0.4	9		41	1,5173		0,1,2586	no	stop-gained	FAM22F	NM_017561.1		0,1,3886	AA,AG,GG		0.0193,0.0,0.0129		242/757	97084601	1,7773	1300	2587	3887	SO:0001587	stop_gained	54754							g.chr9:97084601G>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.724C>T	9.37:g.97084601G>A	ENSP00000253262:p.Arg242*		Somatic					p.R242*	NM_017561	NP_060031	WXS	Illumina GAIIx	Phase_I	A1L443	FA22F_HUMAN			2	745	-		Acute lymphoblastic leukemia(62;0.136)	242					B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Nonsense_Mutation	SNP	ENST00000253262.4	37	c.724C>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.070437	0.55539	0.0	1.93E-4	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	.	.	.	1.2	0.228	0.15364	.	0.141745	0.32736	N	0.005705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5239	0.11973	0.0:0.0:0.6224:0.3776	.	.	.	.	X	242	.	ENSP00000253262:R242X	R	-	1	2	FAM22F	96124422	0.081000	0.21417	0.428000	0.26697	0.206000	0.24218	1.143000	0.31553	0.087000	0.17167	-0.496000	0.04628	CGA		0.632	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		4	41	0	0	0	1	0	4	41					A	97084601	G	A	97084601	4	1	98	1	0	0	0	0	0	1	0	0	5545	1124	39	1	1566	1	FAM22F	9	97084601	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q6-01A-11D-A18F-08		97084601	44128830	6	1719											
CELF2	10659	broad.mit.edu	37	10	11370890	11370890	+	Splice_Site	SNP	T	T	C			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:11370890T>C	ENST00000379261.4	+	13	1493	c.1401T>C	c.(1399-1401)ggT>ggC	p.G467G	CELF2_ENST00000542579.1_Splice_Site_p.G480G|CELF2_ENST00000427450.1_Splice_Site_p.G449G|CELF2_ENST00000315874.4_Splice_Site_p.G449G|CELF2_ENST00000416382.2_Splice_Site_p.G467G|CELF2_ENST00000417956.2_Splice_Site_p.G447G|CELF2_ENST00000354897.3_Splice_Site_p.G461G|CELF2_ENST00000354440.2_Splice_Site_p.G449G|CELF2_ENST00000537122.1_Splice_Site_p.G362G|CELF2_ENST00000450189.1_Splice_Site_p.G480G|CELF2_ENST00000399850.3_Splice_Site_p.G449G|CELF2_ENST00000608830.1_Splice_Site_p.G447G|CELF2_ENST00000609692.1_Splice_Site_p.G399G	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	467	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTTTCCAGGTTTTGTTAGCT	0.517																																						uc001ikk.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.e14-1		Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.							79	81	80					10																	11370890		2080	4244	6324	SO:0001630	splice_region_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding	g.chr10:11370890T>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1400-1T>C	10.37:g.11370890T>C			Somatic				CELF2_uc010qbj.1_Splice_Site_p.G473_splice|CELF2_uc001iki.4_Splice_Site_p.G467_splice|CELF2_uc001ikl.4_Splice_Site_p.G480_splice|CELF2_uc010qbl.1_Splice_Site_p.G443_splice|CELF2_uc010qbm.1_Splice_Site_p.G239_splice|CELF2_uc001iko.4_Splice_Site_p.G447_splice|CELF2_uc001ikp.4_Splice_Site_p.G449_splice|CELF2_uc010qbo.1_Splice_Site_p.G362_splice|CELF2_uc010qbp.1_Splice_Site_p.G239_splice	p.G492_splice	NM_001083591	NP_001077060	WXS	Illumina GAIIx	Phase_I	O95319	CELF2_HUMAN			14	1635	+			467			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Splice_Site	SNP	ENST00000379261.4	37	c.1475_splice	CCDS44354.1																																																																																				0.517	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Silent	3	96	0	0	0	1	0	3	96					C	11370890	T	C	11370890	5	2	98	1	0	0	0	0	0	0	1	0	3216	1739	60	3	1559	3	CELF2	10	11370890	Splice_Site	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		11370890	124163857	7	1720											
CYP2C9	1559	broad.mit.edu	37	10	96701709	96701709	+	Missense_Mutation	SNP	T	T	C	rs139656048		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:96701709T>C	ENST00000260682.6	+	2	275	c.263T>C	c.(262-264)aTt>aCt	p.I88T	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	88					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAAGCCCTGATTGATCTTGGA	0.478																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(262-264)aTt>aCt		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	T	THR/ILE	4,4402		0,4,2199	288	274	279		263	-1.4	0.0	10	dbSNP_134	279	0,8600		0,0,4300	no	missense	CYP2C9	NM_000771.3	89	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	benign	88/491	96701709	4,13002	2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701709T>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.263T>C	10.37:g.96701709T>C	ENSP00000260682:p.Ile88Thr		Somatic				CYP2C9_uc009xut.3_Missense_Mutation_p.I88T|CYP2C9_uc001kjz.3_Missense_Mutation_p.I88T	p.I88T	NM_000771	NP_000762	WXS	Illumina GAIIx	Phase_I	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	1	288	+		Colorectal(252;0.0902)	88					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.263T>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	8.925	0.962142	0.18583	9.08E-4	0.0	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69926	-0.44	3.34	-1.37	0.09056	.	0.087817	0.46145	U	0.000309	T	0.64918	0.2642	L	0.43701	1.375	0.30610	N	0.759584	B;B;B	0.32350	0.172;0.172;0.366	B;B;P	0.51550	0.279;0.279;0.673	T	0.64580	-0.6374	10	0.59425	D	0.04	.	3.6159	0.08077	0.3254:0.1071:0.0:0.5675	.	88;88;88	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	T	88	ENSP00000260682:I88T	ENSP00000260682:I88T	I	+	2	0	CYP2C9	96691699	1.000000	0.71417	0.019000	0.16419	0.284000	0.27059	4.882000	0.63121	-0.370000	0.08016	0.397000	0.26171	ATT		0.478	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		13	158	0	0	0	1	0	13	158					C	96701709	T	C	96701709	3	2	98	1	0	0	0	0	1	0	0	0	4168	1493	52	3	269	3	CYP2C9	10	96701709	Missense_Mutation	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08	85330819	96701709	38833038	8	1721											
AHNAK	79026	broad.mit.edu	37	11	62294421	62294421	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:62294421T>C	ENST00000378024.4	-	5	7742	c.7468A>G	c.(7468-7470)Agg>Ggg	p.R2490G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2490					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGGCCCCTGATGTTCATA	0.478																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7468-7470)Agg>Ggg		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							151	154	153					11																	62294421		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294421T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7468A>G	11.37:g.62294421T>C	ENSP00000367263:p.Arg2490Gly		Somatic				AHNAK_uc001ntk.1_Intron	p.R2490G	NM_001620	NP_001611	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			4	7768	-		Melanoma(852;0.155)	2490					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7468A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	1.631	-0.519027	0.04171	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05199	3.48	4.23	1.83	0.25207	.	.	.	.	.	T	0.04318	0.0119	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	9	0.87932	D	0	.	4.5738	0.12223	0.0:0.1899:0.163:0.6471	.	2490	Q09666	AHNK_HUMAN	G	579;2490	ENSP00000367263:R2490G	ENSP00000244934:R579G	R	-	1	2	AHNAK	62050997	0.034000	0.19679	0.003000	0.11579	0.001000	0.01503	1.588000	0.36633	0.516000	0.28340	0.370000	0.22315	AGG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	209	0	0	0	1	0	4	209					C	62294421	T	C	62294421	3	2	98	1	0	0	0	0	1	0	0	0	414	1579	55	3	10324	3	AHNAK	11	62294421	Missense_Mutation	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		62294421	72712095	9	1722											
OR4D5	219875	broad.mit.edu	37	11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	rs143337717		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502																																						uc001pzk.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(928-930)Ggt>Tgt		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.		G	CYS/GLY	0,4404		0,0,2202	63	64	64		928	0.9	0.0	11	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	159	0,1,6500	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	310/319	123811251	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811251G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.928G>T	11.37:g.123811251G>T	ENSP00000305970:p.Gly310Cys		Somatic					p.G310C	NM_001001965	NP_001001965	WXS	Illumina GAIIx	Phase_I	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	928	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	310					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.928G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732086	0.30684	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00291	8.27	4.06	0.94	0.19513	.	1.922100	0.03237	U	0.179774	T	0.00178	0.0005	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39185	0.293	T	0.43048	-0.9415	10	0.72032	D	0.01	1.7891	4.7886	0.13238	0.2185:0.1741:0.6074:0.0	.	310	Q8NGN0	OR4D5_HUMAN	C	310	ENSP00000305970:G310C	ENSP00000305970:G310C	G	+	1	0	OR4D5	123316461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	0.080000	0.16959	-1.109000	0.02080	GGT		0.502	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		24	43	0	0	0	1	0	24	43					T	123811251	G	T	123811251	3	4	98	1	0	0	0	0	1	0	0	0	11057	1348	47	4	930	4	OR4D5	11	123811251	Missense_Mutation	SNP	G	TCGA-DJ-A2Q6-01A-11D-A18F-08	61516830	123811251	11195265	10	1723											
CACNB3	784	broad.mit.edu	37	12	49218501	49218501	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr12:49218501C>G	ENST00000301050.2	+	5	656	c.457C>G	c.(457-459)Cct>Gct	p.P153A	CACNB3_ENST00000547230.1_Missense_Mutation_p.P112A|CACNB3_ENST00000536187.2_Missense_Mutation_p.P152A|CACNB3_ENST00000547392.1_Missense_Mutation_p.P153A|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000540990.1_Missense_Mutation_p.P140A	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	153					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGACGCTCCCCTCCGCCATC	0.547																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(457-459)Cct>Gct		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						50	51	51					12																	49218501		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49218501C>G		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.457C>G	12.37:g.49218501C>G	ENSP00000301050:p.Pro153Ala		Somatic				CACNB3_uc010slx.2_Missense_Mutation_p.P140A|CACNB3_uc010sly.2_Missense_Mutation_p.P140A|CACNB3_uc010slz.2_Missense_Mutation_p.P152A|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.P112A	p.P153A	NM_000725	NP_000716	WXS	Illumina GAIIx	Phase_I	P54284	CACB3_HUMAN			4	916	+			153					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.457C>G	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527673	0.44969	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	D;D;D;D;T	0.82081	-1.57;-1.57;-1.55;-1.57;0.93	5.67	5.67	0.87782	Src homology-3 domain (1);	0.048323	0.85682	D	0.000000	T	0.71307	0.3324	N	0.14661	0.345	0.46542	D	0.999097	P;P;B;B	0.37207	0.587;0.587;0.098;0.451	B;B;B;B	0.38156	0.266;0.266;0.066;0.137	T	0.69323	-0.5175	10	0.13108	T	0.6	-9.9238	16.6702	0.85264	0.0:1.0:0.0:0.0	.	152;140;140;153	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	A	140;152;153;153;112	ENSP00000445495:P140A;ENSP00000444160:P152A;ENSP00000446529:P153A;ENSP00000301050:P153A;ENSP00000448304:P112A	ENSP00000301050:P153A	P	+	1	0	CACNB3	47504768	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.312000	0.51927	2.686000	0.91538	0.655000	0.94253	CCT		0.547	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			3	68	0	0	0	1	0	3	68					G	49218501	C	G	49218501	3	3	98	1	0	0	0	0	1	0	0	0	2554	623	22	4	475	4	CACNB3	12	49218501	Missense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		49218501	84633394	11	1724											
GPR179	440435	broad.mit.edu	37	17	36484931	36484931	+	Silent	SNP	T	T	C			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:36484931T>C	ENST00000342292.4	-	11	4541	c.4521A>G	c.(4519-4521)aaA>aaG	p.K1507K	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1507					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCTGGAGGCTTTTTCCTTTT	0.483																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4519-4521)aaA>aaG		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							166	166	166					17																	36484931		1981	4173	6154	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484931T>C		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4521A>G	17.37:g.36484931T>C			Somatic					p.K1507K	NM_001004334	NP_001004334	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			10	4542	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1507						Silent	SNP	ENST00000342292.4	37	c.4521A>G	CCDS42308.1																																																																																				0.483	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			3	218	0	0	0	1	0	3	218					C	36484931	T	C	36484931	2	2	98	1	0	0	0	0	0	0	0	1	6674	1606	56	3		3	GPR179	17	36484931	Silent	SNP	T	TCGA-DJ-A2Q6-01A-11D-A18F-08		36484931	44710279	12	1725											
MEOX1	4222	broad.mit.edu	37	17	41738500	41738500	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:41738500C>A	ENST00000318579.4	-	1	822	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	MEOX1_ENST00000329168.3_Missense_Mutation_p.G135W|MEOX1_ENST00000393661.2_Missense_Mutation_p.G20W|MEOX1_ENST00000549132.1_Silent_p.T105T	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	135					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.G135W(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCAAGCACCCCGTAGTCATCG	0.607																																						uc002idz.3																			1	Substitution - Missense(1)	p.G135W(2)	lung(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(403-405)Ggg>Tgg		Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.							138	144	142					17																	41738500		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738500C>A		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.403G>T	17.37:g.41738500C>A	ENSP00000321684:p.Gly135Trp		Somatic				MEOX1_uc002iea.3_Missense_Mutation_p.G135W|MEOX1_uc002ieb.3_Missense_Mutation_p.G20W	p.G135W	NM_004527	NP_001035091	WXS	Illumina GAIIx	Phase_I	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	0	432	-		Breast(137;0.00908)	135					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.403G>T	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624207	0.28889	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.92348	-3.02;0.88;-2.83	4.92	2.92	0.33932	.	0.614481	0.18470	N	0.140257	D	0.90438	0.7006	L	0.39898	1.24	0.09310	N	1	D;D	0.60160	0.987;0.975	P;P	0.53809	0.667;0.735	T	0.82770	-0.0293	10	0.66056	D	0.02	-9.7965	7.765	0.28974	0.0:0.6654:0.0:0.3346	.	135;135	Q15069;P50221	.;MEOX1_HUMAN	W	135;135;20	ENSP00000321684:G135W;ENSP00000328678:G135W;ENSP00000377271:G20W	ENSP00000321684:G135W	G	-	1	0	MEOX1	39094026	0.318000	0.24598	0.853000	0.33588	0.381000	0.30169	0.945000	0.29056	0.652000	0.30806	-0.150000	0.13652	GGG		0.607	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			4	178	0	0	0	1	0	4	178					A	41738500	C	A	41738500	3	1	98	1	0	0	0	0	1	0	0	0	9473	652	23	4	373	4	MEOX1	17	41738500	Missense_Mutation	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08	5253569	41738500	39456710	13	1726											
SULF2	55959	broad.mit.edu	37	20	46313295	46313295	+	Silent	SNP	C	C	T	rs201684871		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr20:46313295C>T	ENST00000359930.4	-	6	1619	c.768G>A	c.(766-768)ccG>ccA	p.P256P	SULF2_ENST00000361612.4_Silent_p.P256P|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Silent_p.P256P|SULF2_ENST00000484875.1_Silent_p.P256P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	256					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						AGTGTTTGTCCGGGTTGGGCG	0.617													C|||	1	0.000199681	0	0.0014	5008	,	,		19552	0		0	False		,,,				2504	0					uc002xto.3																			0		p.P256L(1)		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.(766-768)ccG>ccA		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							160	108	126					20																	46313295		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	g.chr20:46313295C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.768G>A	20.37:g.46313295C>T			Somatic				SULF2_uc002xtr.3_Silent_p.P256P|SULF2_uc002xtq.3_Silent_p.P256P	p.P256P	NM_018837	NP_061325	WXS	Illumina GAIIx	Phase_I	Q8IWU5	SULF2_HUMAN			5	1098	-			256					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.768G>A	CCDS13408.1																																																																																				0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		3	34	0	0	0	1	0	3	34					T	46313295	C	T	46313295	2	4	98	1	0	0	0	0	0	0	0	1	15370	639	23	1		1	SULF2	20	46313295	Silent	SNP	C	TCGA-DJ-A2Q6-01A-11D-A18F-08		46313295	16712225	14	1727											
KIAA1522	57648	broad.mit.edu	37	1	33236588	33236588	+	Missense_Mutation	SNP	C	C	G	rs576382004		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:33236588C>G	ENST00000373480.1	+	6	1734	c.1631C>G	c.(1630-1632)gCt>gGt	p.A544G	KIAA1522_ENST00000373481.3_Missense_Mutation_p.A555G|KIAA1522_ENST00000401073.2_Missense_Mutation_p.A603G|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	544	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGTCCCCCTGCTTCCCCAGGC	0.642																																						uc001bvu.1																			0		p.P602S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1807-1809)gCt>gGt		Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.							56	60	59					1																	33236588		1907	4093	6000	SO:0001583	missense	57648							g.chr1:33236588C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1631C>G	1.37:g.33236588C>G	ENSP00000362579:p.Ala544Gly		Somatic				KIAA1522_uc010ohm.1_Missense_Mutation_p.A555G|KIAA1522_uc001bvv.2_Missense_Mutation_p.A544G|KIAA1522_uc010ohn.1_Intron	p.A603G	NM_020888	NP_065939	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			5	1852	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	544			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1808C>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873003	0.33069	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13196	2.61;2.64;2.65	3.9	3.9	0.45041	.	0.108692	0.39544	N	0.001330	T	0.11580	0.0282	L	0.51422	1.61	0.26103	N	0.98079	B;B;B	0.28082	0.089;0.089;0.2	B;B;B	0.24155	0.035;0.035;0.051	T	0.12243	-1.0555	10	0.28530	T	0.3	-7.1315	8.0633	0.30646	0.0:0.7502:0.1602:0.0895	.	555;544;603	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	G	603;555;544	ENSP00000383851:A603G;ENSP00000362580:A555G;ENSP00000362579:A544G	ENSP00000362579:A544G	A	+	2	0	KIAA1522	33009175	0.013000	0.17824	1.000000	0.80357	0.984000	0.73092	2.564000	0.45931	2.154000	0.67381	0.462000	0.41574	GCT		0.642	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	66	0	0	0	1	0	6	66					G	33236588	C	G	33236588	3	3	99	1	0	0	0	0	1	0	0	0	8238	797	28	4	1830	4	KIAA1522	1	33236588	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		33236588	216014033	1	1728											
WDR47	22911	broad.mit.edu	37	1	109544904	109544904	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:109544904C>G	ENST00000369962.3	-	7	1597	c.1375G>C	c.(1375-1377)Gtg>Ctg	p.V459L	WDR47_ENST00000369965.4_Missense_Mutation_p.V460L|WDR47_ENST00000357672.3_Missense_Mutation_p.V431L|WDR47_ENST00000361054.3_Missense_Mutation_p.V431L|WDR47_ENST00000400794.3_Missense_Mutation_p.V467L			O94967	WDR47_HUMAN	WD repeat domain 47	459	Gln-rich.				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)		TCCTGATTCACGCCTCCTTCA	0.383																																						uc001dwl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1399-1401)Gtg>Ctg		Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.							189	162	171					1																	109544904		2203	4300	6503	SO:0001583	missense	22911							g.chr1:109544904C>G	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1375G>C	1.37:g.109544904C>G	ENSP00000358979:p.Val459Leu		Somatic				WDR47_uc001dwi.3_Missense_Mutation_p.V460L|WDR47_uc001dwj.3_Missense_Mutation_p.V459L|WDR47_uc001dwk.2_Missense_Mutation_p.V431L|WDR47_uc010ovf.2_Missense_Mutation_p.V386L	p.V467L	NM_001142550	NP_001136022	WXS	Illumina GAIIx	Phase_I	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)	6	1775	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	459			Gln-rich.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1399G>C	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394758	0.83011	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58652	0.32;0.35;0.32;0.32;0.32	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.32530	0.975	0.52501	D	0.99995	D;D;D;D	0.69078	0.996;0.997;0.997;0.996	D;D;D;D	0.77004	0.989;0.988;0.988;0.989	T	0.56848	-0.7911	10	0.37606	T	0.19	-2.0252	14.1082	0.65104	0.0:0.9269:0.0:0.0731	.	431;467;459;460	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	L	467;459;431;460;431	ENSP00000383599:V467L;ENSP00000358979:V459L;ENSP00000354339:V431L;ENSP00000358982:V460L;ENSP00000350301:V431L	ENSP00000350301:V431L	V	-	1	0	WDR47	109346427	1.000000	0.71417	0.958000	0.39756	0.967000	0.64934	6.968000	0.76086	1.234000	0.43709	0.491000	0.48974	GTG		0.383	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		10	128	0	0	0	1	0	10	128					G	109544904	C	G	109544904	3	3	99	1	0	0	0	0	1	0	0	0	17297	536	19	4	1420	4	WDR47	1	109544904	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	76308316	109544904	139705717	2	1729											
FCGR2B	2213	broad.mit.edu	37	1	161641233	161641233	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:161641233T>C	ENST00000358671.5	+	3	266	c.185T>C	c.(184-186)cTc>cCc	p.L62P	FCGR2B_ENST00000403078.3_Missense_Mutation_p.L62P|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367962.4_Missense_Mutation_p.L62P|FCGR2B_ENST00000367961.4_Missense_Mutation_p.L55P|FCGR2B_ENST00000236937.9_Missense_Mutation_p.L62P|FCGR2B_ENST00000367960.5_Missense_Mutation_p.L55P|FCGR2B_ENST00000428605.2_Missense_Mutation_p.L62P	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	62	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						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)|Antithymocyte globulin(DB00098)|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)	ATCAACGTGCTCCAGGAGGAC	0.587			T	?	ALL																																	uc001gaz.2				Dom	yes		1	1q23	2213	T	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"			L	?		ALL		0											c.(184-186)cTc>cCc		Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA.	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)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						97	99	99					1																	161641233		2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641233T>C	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.185T>C	1.37:g.161641233T>C	ENSP00000351497:p.Leu62Pro		Somatic				FCGR2B_uc009wum.2_Missense_Mutation_p.L62P|FCGR2B_uc001gay.2_Missense_Mutation_p.L61P|FCGR2B_uc001gba.2_Missense_Mutation_p.L61P|FCGR2B_uc009wun.2_Missense_Mutation_p.L55P|FCGR2B_uc001gbb.2_Missense_Mutation_p.L62P	p.L62P	NM_004001	NP_003992	WXS	Illumina GAIIx	Phase_I	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	312	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		62			Ig-like C2-type 1.		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.185T>C	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289104	0.59976	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79	4.53	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.279504	0.24465	N	0.038281	T	0.19287	0.0463	M	0.69463	2.115	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.992;0.999;0.999;1.0;0.999	T	0.00812	-1.1556	10	0.87932	D	0	.	10.2477	0.43352	0.0:0.0:0.0:1.0	.	55;62;62;62;62;62	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	P	62;55;62;62;62;55;62;61	ENSP00000356939:L62P;ENSP00000356937:L55P;ENSP00000386038:L62P;ENSP00000404329:L62P;ENSP00000236937:L62P;ENSP00000356938:L55P;ENSP00000351497:L62P	ENSP00000236937:L62P	L	+	2	0	FCGR2B	159907857	0.197000	0.23362	0.135000	0.22099	0.034000	0.12701	3.841000	0.55850	1.674000	0.50907	0.379000	0.24179	CTC		0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		21	29	0	0	0	1	0	21	29					C	161641233	T	C	161641233	3	2	99	1	0	0	0	0	1	0	0	0	5782	1551	54	3	195	3	FCGR2B	1	161641233	Missense_Mutation	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08	52096329	161641233	87609388	3	1730											
POU2F1	5451	broad.mit.edu	37	1	167367336	167367336	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr1:167367336A>G	ENST00000541643.3	+	12	1328	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	POU2F1_ENST00000367862.5_Missense_Mutation_p.N401S|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.N349S|POU2F1_ENST00000367866.2_Missense_Mutation_p.N412S|POU2F1_ENST00000420254.3_Missense_Mutation_p.N389S			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	389					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ATAGAGACCAACATCCGTGTG	0.468																																						uc001gee.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1234-1236)aAc>aGc		Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 1, mRNA.							144	138	140					1																	167367336		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167367336A>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1166A>G	1.37:g.167367336A>G	ENSP00000441285:p.Asn389Ser		Somatic				POU2F1_uc001gec.3_Missense_Mutation_p.N389S|POU2F1_uc010plh.2_Missense_Mutation_p.N349S|POU2F1_uc001ged.3_Missense_Mutation_p.N387S|POU2F1_uc001gef.3_Missense_Mutation_p.N401S|POU2F1_uc001geg.3_Missense_Mutation_p.N287S|POU2F1_uc009wvg.1_5'Flank	p.N412S	NM_002697	NP_002688	WXS	Illumina GAIIx	Phase_I	P14859	PO2F1_HUMAN			10	1304	+			389					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1235A>G		.	.	.	.	.	.	.	.	.	.	A	18.50	3.638046	0.67130	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77750	-1.12;-1.0;-1.12;-1.12;-1.12;-1.12;-1.12	6.0	6.0	0.97389	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	N	0.05078	-0.115	0.80722	D	1	P;B;P;P;P	0.52842	0.956;0.004;0.946;0.946;0.956	B;B;B;B;B	0.43754	0.43;0.019;0.304;0.397;0.43	T	0.61898	-0.6968	10	0.35671	T	0.21	.	16.4953	0.84238	1.0:0.0:0.0:0.0	.	349;389;401;387;389	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	S	412;349;387;389;389;401;297	ENSP00000356840:N412S;ENSP00000401217:N349S;ENSP00000356839:N387S;ENSP00000414660:N389S;ENSP00000441285:N389S;ENSP00000356836:N401S;ENSP00000415993:N297S	ENSP00000356836:N401S	N	+	2	0	POU2F1	165633960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.264000	0.95635	2.287000	0.76781	0.533000	0.62120	AAC		0.468	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		3	69	0	0	0	1	0	3	69					G	167367336	A	G	167367336	3	3	99	1	0	0	0	0	1	0	0	0	12271	43	2	3	1204	3	POU2F1	1	167367336	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08	5726103	167367336	81883285	4	1731											
RYK	6259	broad.mit.edu	37	3	133928660	133928661	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr3:133928660_133928661delCT	ENST00000296084.4	-	5	460_461	c.461_462delAG	c.(460-462)gagfs	p.E154fs	RYK_ENST00000427044.2_5'UTR	NM_001005861.2|NM_002958.3	NP_001005861.1|NP_002949.2	P34925	RYK_HUMAN	receptor-like tyrosine kinase	153	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TACAGGAAAGCTCTACCCGAAA	0.272																																						uc003eqc.1																			0				lung(1)|ovary(3)	4						c.(454-456)gagfs		Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	6259				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133928660_133928661delCT	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000296084.4:c.461_462delAG	3.37:g.133928662_133928663delCT	ENSP00000296084:p.Glu154fs		Somatic				RYK_uc003eqd.1_Frame_Shift_Del_p.E152fs	p.E152fs	NM_001005861	NP_001005861	WXS	Illumina GAIIx	Phase_I	P34925	RYK_HUMAN			4	553_554	-			153			WIF.		Q04696	Frame_Shift_Del	DEL	ENST00000296084.4	37	c.455_456delAG																																																																																					0.272	RYK-201	KNOWN	basic	protein_coding	protein_coding		NM_001005861		2	4						2	4	---	---	---	---	-	133928661	CT	-	133928660	7	5	99	1	0	1	0	1	0	0	0	0	13767	796	28	0	1412	0	RYK	3	133928660	Frame_Shift_Del	DEL	CT	TCGA-DJ-A2Q7-01A-11D-A18F-08		133928660	64093770	5	1732											
MAP1B	4131	broad.mit.edu	37	5	71495163	71495163	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:71495163C>T	ENST00000296755.7	+	5	6279	c.5981C>T	c.(5980-5982)tCt>tTt	p.S1994F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1994					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATGATGACTCTGAGGATGGT	0.483																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5980-5982)tCt>tTt		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							135	142	140					5																	71495163		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495163C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5981C>T	5.37:g.71495163C>T	ENSP00000296755:p.Ser1994Phe		Somatic				MAP1B_uc010iyw.1_Missense_Mutation_p.S2011F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1868F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1868F	p.S1994F	NM_005909	NP_005900	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	6222	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1994					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5981C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034812	0.35893	.	.	ENSG00000131711	ENST00000296755	T	0.03468	3.92	5.51	5.51	0.81932	.	0.641591	0.15393	N	0.264685	T	0.03348	0.0097	N	0.08118	0	0.30366	N	0.783313	B;B	0.25169	0.119;0.119	B;B	0.32465	0.146;0.043	T	0.33752	-0.9856	10	0.40728	T	0.16	-7.2639	13.7476	0.62885	0.0:0.9239:0.0:0.0761	.	1868;1994	A2BDK6;P46821	.;MAP1B_HUMAN	F	1994	ENSP00000296755:S1994F	ENSP00000296755:S1994F	S	+	2	0	MAP1B	71530919	0.044000	0.20184	0.988000	0.46212	0.999000	0.98932	2.451000	0.44952	2.601000	0.87937	0.643000	0.83706	TCT		0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	228	0	0	0	1	0	8	228					T	71495163	C	T	71495163	3	4	99	1	0	0	0	0	1	0	0	0	9228	913	32	2	5999	2	MAP1B	5	71495163	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		71495163	109420097	6	1733											
MEF2C	4208	broad.mit.edu	37	5	88047813	88047813	+	Silent	SNP	G	G	C			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr5:88047813G>C	ENST00000437473.2	-	5	867	c.450C>G	c.(448-450)tcC>tcG	p.S150S	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000508569.1_Silent_p.S150S|MEF2C_ENST00000514028.1_Silent_p.S150S|MEF2C_ENST00000340208.5_Silent_p.S168S|MEF2C_ENST00000424173.2_Silent_p.S148S|MEF2C_ENST00000504921.2_Silent_p.S150S|MEF2C_ENST00000539796.1_Silent_p.S102S|MEF2C_ENST00000506554.1_Silent_p.S150S|MEF2C_ENST00000514015.1_Silent_p.S150S|MEF2C_ENST00000510942.1_Silent_p.S150S	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	150	Ser-rich.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGTTGTGGCTGGACACTGGGA	0.478										HNSCC(66;0.2)																												uc003kjl.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(502-504)tcC>tcG		Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.							140	142	141					5																	88047813		1952	4164	6116	SO:0001819	synonymous_variant	4208				B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047813G>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.450C>G	5.37:g.88047813G>C		HNSCC(66;0.2)	Somatic				MEF2C_uc021ybg.1_Silent_p.S102S|MEF2C_uc021ybh.1_Silent_p.S102S|MEF2C_uc003kji.2_Silent_p.S150S|MEF2C_uc003kjj.3_Silent_p.S150S|MEF2C_uc003kjk.3_Silent_p.S150S|MEF2C_uc003kjm.3_Silent_p.S148S	p.S168S	NM_001193347	NP_001180276	WXS	Illumina GAIIx	Phase_I	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	6	933	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	150			Ser-rich.		C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	c.504C>G	CCDS47245.1																																																																																				0.478	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		32	70	0	0	0	1	0	32	70					C	88047813	G	C	88047813	2	2	99	1	0	0	0	0	0	0	0	1	9457	1335	47	4		4	MEF2C	5	88047813	Silent	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08	16552650	88047813	92867447	7	1734											
TNXB	7148	broad.mit.edu	37	6	32015637	32015637	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:32015637G>A	ENST00000375244.3	-	30	10399	c.10198C>T	c.(10198-10200)Ccg>Tcg	p.P3400S	TNXB_ENST00000375247.2_Missense_Mutation_p.P3398S|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3445	Fibronectin type-III 25. {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)	p.P3465S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCACCGGCACCACCTGG	0.617																																						uc003nzl.2																			1	Substitution - Missense(1)	p.P3465S(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10192-10194)Ccg>Tcg		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							29	37	34					6																	32015637		1437	2647	4084	SO:0001583	missense	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.chr6:32015637G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10198C>T	6.37:g.32015637G>A	ENSP00000364393:p.Pro3400Ser		Somatic				TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.P3398S	NM_019105	NP_061978	WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			29	10394	-			3445					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10192C>T		.	.	.	.	.	.	.	.	.	.	G	8.195	0.796763	0.16327	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.53857	0.6;0.6	4.76	1.98	0.26296	.	0.137947	0.33753	N	0.004594	T	0.27241	0.0668	L	0.47190	1.495	0.09310	N	1	P	0.39748	0.686	P	0.50136	0.632	T	0.29150	-1.0021	10	0.09590	T	0.72	.	4.9993	0.14257	0.1793:0.0:0.6531:0.1676	.	3398	P22105-3	.	S	3400;3398	ENSP00000364393:P3400S;ENSP00000364396:P3398S	ENSP00000364393:P3400S	P	-	1	0	TNXB	32123615	0.999000	0.42202	0.073000	0.20177	0.001000	0.01503	3.696000	0.54757	0.221000	0.20879	-0.229000	0.12294	CCG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	32	0	0	0	1	0	3	32					A	32015637	G	A	32015637	3	1	99	1	0	0	0	0	1	0	0	0	16343	1203	42	2	4581	2	TNXB	6	32015637	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		32015637	139099430	8	1735											
FUT9	10690	broad.mit.edu	37	6	96651640	96651640	+	Silent	SNP	C	C	G			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr6:96651640C>G	ENST00000302103.5	+	3	935	c.609C>G	c.(607-609)gtC>gtG	p.V203V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	203					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)		ATGCCAGAGTCAAGTATTACA	0.408																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.4																			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.(607-609)gtC>gtG		Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.							68	64	66					6																	96651640		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651640C>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.609C>G	6.37:g.96651640C>G			Somatic				FUT9_uc021zcw.1_Silent_p.V203V	p.V203V	NM_006581	NP_006572	WXS	Illumina GAIIx	Phase_I	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	2	950	+		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)	203					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.609C>G	CCDS5033.1																																																																																				0.408	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		15	30	0	0	0	1	0	15	30					G	96651640	C	G	96651640	2	3	99	1	0	0	0	0	0	0	0	1	6111	813	29	4		4	FUT9	6	96651640	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08	64636003	96651640	74463427	9	1736											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	49	0	0	0	1	0	27	49					T	140453136	A	T	140453136	3	4	99	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		140453136	18685527	10	1737											
ST18	9705	broad.mit.edu	37	8	53092728	53092728	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr8:53092728C>T	ENST00000276480.7	-	9	914	c.231G>A	c.(229-231)agG>agA	p.R77R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	77					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)				CGTCCTCTGTCCTGTCACTGC	0.542																																						uc003xqz.2																			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.(229-231)agG>agA		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							330	264	286					8																	53092728		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53092728C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.231G>A	8.37:g.53092728C>T			Somatic				ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.R42R|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.R77R|ST18_uc003xrb.2_Silent_p.R77R|ST18_uc010lyb.2_Non-coding_Transcript	p.R77R	NM_014682	NP_055497	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			3	387	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	77					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.231G>A	CCDS6149.1																																																																																				0.542	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			36	175	0	0	0	1	0	36	175					T	53092728	C	T	53092728	2	4	99	1	0	0	0	0	0	0	0	1	15211	854	30	2		2	ST18	8	53092728	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		53092728	93271294	11	1738											
ZBTB26	57684	broad.mit.edu	37	9	125681791	125681791	+	Silent	SNP	T	T	C			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr9:125681791T>C	ENST00000373656.3	-	2	496	c.423A>G	c.(421-423)ccA>ccG	p.P141P	ZBTB26_ENST00000373654.1_Silent_p.P141P	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGCACTCTGTGGTTCACATC	0.468																																						uc004bnj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(421-423)ccA>ccG		Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.							149	132	137					9																	125681791		2203	4300	6503	SO:0001819	synonymous_variant	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681791T>C	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.423A>G	9.37:g.125681791T>C			Somatic				ZBTB26_uc004bnk.3_Silent_p.P141P|ZBTB26_uc022bnc.1_Silent_p.P141P	p.P141P	NM_020924	NP_065975	WXS	Illumina GAIIx	Phase_I	Q9HCK0	ZBT26_HUMAN			1	635	-			141					B3KQ53|Q8WTR1	Silent	SNP	ENST00000373656.3	37	c.423A>G	CCDS6847.1																																																																																				0.468	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		16	83	0	0	0	1	0	16	83					C	125681791	T	C	125681791	2	2	99	1	0	0	0	0	0	0	0	1	17530	1683	59	3		3	ZBTB26	9	125681791	Silent	SNP	T	TCGA-DJ-A2Q7-01A-11D-A18F-08		125681791	15531640	12	1739											
OR8K5	219453	broad.mit.edu	37	11	55927551	55927551	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr11:55927551C>T	ENST00000313447.1	-	1	242	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATTTGCCAGCACCTTGGGAC	0.383																																						uc010rja.2																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(241-243)gtG>gtA		Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.							102	102	102					11																	55927551		2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927551C>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.243G>A	11.37:g.55927551C>T			Somatic					p.V81V	NM_001004058	NP_001004058	WXS	Illumina GAIIx	Phase_I	Q8NH50	OR8K5_HUMAN			0	243	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	81					Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.243G>A	CCDS31521.1																																																																																				0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		5	70	0	0	0	1	0	5	70					T	55927551	C	T	55927551	2	4	99	1	0	0	0	0	0	0	0	1	11245	697	25	2		2	OR8K5	11	55927551	Silent	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		55927551	79078965	13	1740											
OR4N5	390437	broad.mit.edu	37	14	20612492	20612492	+	Missense_Mutation	SNP	G	G	T	rs147549956		TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr14:20612492G>T	ENST00000333629.1	+	1	598	c.598G>T	c.(598-600)Gtc>Ttc	p.V200F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTCTGATGGTCTCCAACAG	0.537																																						uc010tla.2																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(598-600)Gtc>Ttc		Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.							101	82	89					14																	20612492		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612492G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.598G>T	14.37:g.20612492G>T	ENSP00000332110:p.Val200Phe		Somatic					p.V200F	NM_001004724	NP_001004724	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	0	598	+	all_cancers(95;0.00108)		200					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.598G>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933352	0.34096	.	.	ENSG00000184394	ENST00000333629	T	0.00076	8.76	3.88	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001315	T	0.00144	0.0004	N	0.11364	0.135	0.30924	N	0.72769	D	0.63046	0.992	D	0.66351	0.943	T	0.59747	-0.7396	10	0.87932	D	0	.	4.4473	0.11604	0.1155:0.0:0.5608:0.3236	.	200	Q8IXE1	OR4N5_HUMAN	F	200	ENSP00000332110:V200F	ENSP00000332110:V200F	V	+	1	0	OR4N5	19682332	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.816000	0.04477	0.967000	0.38186	0.655000	0.94253	GTC		0.537	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			7	96	0	0	0	1	0	7	96					T	20612492	G	T	20612492	3	4	99	1	0	0	0	0	1	0	0	0	11079	1261	44	4	600	4	OR4N5	14	20612492	Missense_Mutation	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		20612492	86737048	14	1741											
ZFHX3	463	broad.mit.edu	37	16	72984519	72984519	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr16:72984519C>T	ENST00000268489.5	-	3	3737	c.3065G>A	c.(3064-3066)gGc>gAc	p.G1022D	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G108D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1022					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)				GTTGGCCTTGCCGCCCTCCTT	0.592																																						uc002fck.3																			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.(3064-3066)gGc>gAc		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							165	124	138					16																	72984519		2198	4300	6498	SO:0001583	missense	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.chr16:72984519C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3065G>A	16.37:g.72984519C>T	ENSP00000268489:p.Gly1022Asp		Somatic				ZFHX3_uc002fcl.3_Missense_Mutation_p.G108D	p.G1022D	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			2	3738	-		Ovarian(137;0.13)	1022					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3065G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983725	0.74474	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.56275	0.47;0.47	5.21	5.21	0.72293	.	0.000000	0.51477	D	0.000100	T	0.62245	0.2412	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67730	-0.5595	10	0.87932	D	0	.	18.7673	0.91878	0.0:1.0:0.0:0.0	.	1022	Q15911	ZFHX3_HUMAN	D	1022;108	ENSP00000268489:G1022D;ENSP00000438926:G108D	ENSP00000268489:G1022D	G	-	2	0	ZFHX3	71542020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.436000	0.80404	2.415000	0.81967	0.650000	0.86243	GGC		0.592	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	47	0	0	0	1	0	3	47					T	72984519	C	T	72984519	3	4	99	1	0	0	0	0	1	0	0	0	17631	739	26	2	8078	2	ZFHX3	16	72984519	Missense_Mutation	SNP	C	TCGA-DJ-A2Q7-01A-11D-A18F-08		72984519	17370234	15	1742											
MYH8	4626	broad.mit.edu	37	17	10295952	10295952	+	Silent	SNP	A	A	T			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr17:10295952A>T	ENST00000403437.2	-	38	5569	c.5475T>A	c.(5473-5475)ctT>ctA	p.L1825L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1825					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCTCCTTCAAGCTCACGTA	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5473-5475)ctT>ctA		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							168	158	161					17																	10295952		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295952A>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5475T>A	17.37:g.10295952A>T			Somatic				AK097500_uc002gml.1_Intron	p.L1825L	NM_002472	NP_002463	WXS	Illumina GAIIx	Phase_I	P13535	MYH8_HUMAN			37	5570	-			1825					Q14910	Silent	SNP	ENST00000403437.2	37	c.5475T>A	CCDS11153.1																																																																																				0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	159	0	0	0	1	0	7	159					T	10295952	A	T	10295952	2	4	99	1	0	0	0	0	0	0	0	1	10041	117	5	5		5	MYH8	17	10295952	Silent	SNP	A	TCGA-DJ-A2Q7-01A-11D-A18F-08		10295952	70899258	16	1743											
MLLT1	4298	broad.mit.edu	37	19	6213134	6213134	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q7-01A-11D-A18F-08	TCGA-DJ-A2Q7-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4087812a-31ba-4faf-af39-856e381fb72f	89780c79-339d-4931-b8ab-00a091735abc	g.chr19:6213134G>A	ENST00000252674.7	-	12	1762	c.1599C>T	c.(1597-1599)acC>acT	p.T533T	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	533					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGTCGAAGGTGGTGTTGGTGA	0.627			T	MLL	AL																																	uc002mek.3				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1597-1599)acC>acT		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.							183	163	170					19																	6213134		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213134G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1599C>T	19.37:g.6213134G>A			Somatic					p.T533T	NM_005934	NP_005925	WXS	Illumina GAIIx	Phase_I	Q03111	ENL_HUMAN			11	1763	-			533					Q14768	Silent	SNP	ENST00000252674.7	37	c.1599C>T	CCDS12160.1																																																																																				0.627	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		40	89	0	0	0	1	0	40	89					A	6213134	G	A	6213134	2	1	99	1	0	0	0	0	0	0	0	1	9625	1335	47	2		2	MLLT1	19	6213134	Silent	SNP	G	TCGA-DJ-A2Q7-01A-11D-A18F-08		6213134	52915849	17	1744											
SPTA1	6708	broad.mit.edu	37	1	158623172	158623172	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr1:158623172G>A	ENST00000368147.4	-	22	3260	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1027	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					ATAGACAGCTGGGACAATGCC	0.552																																						uc001fst.1																			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.(3079-3081)cCa>cTa		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							91	93	92					1																	158623172		2046	4175	6221	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.chr1:158623172G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3080C>T	1.37:g.158623172G>A	ENSP00000357129:p.Pro1027Leu		Somatic					p.P1027L	NM_003126	NP_003117	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			21	3279	-	all_hematologic(112;0.0378)		1027			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3080C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803707	0.70682	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	D;D	0.90563	-2.69;-2.69	5.15	5.15	0.70609	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.000000	0.31976	N	0.006762	D	0.96636	0.8902	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96817	0.9601	10	0.54805	T	0.06	.	17.367	0.87367	0.0:0.0:1.0:0.0	.	1027	P02549	SPTA1_HUMAN	L	1027	ENSP00000357130:P1027L;ENSP00000357129:P1027L	ENSP00000357129:P1027L	P	-	2	0	SPTA1	156889796	1.000000	0.71417	0.991000	0.47740	0.165000	0.22458	8.882000	0.92420	2.692000	0.91855	0.655000	0.94253	CCA		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	76	0	0	0	1	0	6	76					A	158623172	G	A	158623172	3	1	100	1	0	0	0	0	1	0	0	0	15115	1348	47	2	4303	2	SPTA1	1	158623172	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		158623172	90627449	1	1745											
PIGZ	80235	broad.mit.edu	37	3	196675177	196675177	+	Silent	SNP	C	C	G	rs367792934		TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr3:196675177C>G	ENST00000412723.1	-	3	737	c.591G>C	c.(589-591)acG>acC	p.T197T	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	197					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TAGGGCCCCACGTTACATGGG	0.607																																						uc003fxh.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(589-591)acG>acC		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.							99	92	94					3																	196675177		2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675177C>G	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.591G>C	3.37:g.196675177C>G			Somatic					p.T197T	NM_025163	NP_079439	WXS	Illumina GAIIx	Phase_I	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	738	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		197					Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.591G>C	CCDS3324.1																																																																																				0.607	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		3	63	0	0	0	1	0	3	63					G	196675177	C	G	196675177	2	3	100	1	0	0	0	0	0	0	0	1	11905	523	19	4		4	PIGZ	3	196675177	Silent	SNP	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		196675177	1347253	2	1746											
NDST4	64579	broad.mit.edu	37	4	115898369	115898369	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr4:115898369C>T	ENST00000264363.2	-	3	1718	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	347	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCCTGAAAATCCAAGGTTGAA	0.323																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1039-1041)gGa>gAa		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							86	91	89					4																	115898369		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115898369C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1040G>A	4.37:g.115898369C>T	ENSP00000264363:p.Gly347Glu		Somatic				NDST4_uc010imw.3_Intron	p.G347E	NM_022569	NP_072091	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1719	-		Ovarian(17;0.156)	347			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1040G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081190	0.94050	.	.	ENSG00000138653	ENST00000264363	T	0.72282	-0.64	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90435	0.4427	10	0.87932	D	0	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	347	Q9H3R1	NDST4_HUMAN	E	347	ENSP00000264363:G347E	ENSP00000264363:G347E	G	-	2	0	NDST4	116117818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.783000	0.95769	0.655000	0.94253	GGA		0.323	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		4	100	0	0	0	1	0	4	100					T	115898369	C	T	115898369	3	4	100	1	0	0	0	0	1	0	0	0	10258	855	30	2	1626	2	NDST4	4	115898369	Missense_Mutation	SNP	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		115898369	75255907	3	1747											
ACOT12	134526	broad.mit.edu	37	5	80626733	80626733	+	Missense_Mutation	SNP	G	G	A	rs80124231	byFrequency	TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:80626733G>A	ENST00000307624.3	-	14	1446	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	473	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAAAATGACCGACTTCACTGC	0.398													G|||	5	0.000998403	0.003	0	5008	,	,		18768	0		0.001	False		,,,				2504	0					uc003khl.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(1417-1419)tCg>tTg		Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	77	73	74		1418	5.7	0.4	5	dbSNP_131	74	0,8600		0,0,4300	yes	missense	ACOT12	NM_130767.2	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	473/556	80626733	3,13003	2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80626733G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1418C>T	5.37:g.80626733G>A	ENSP00000303246:p.Ser473Leu		Somatic				RNU5E-1_uc011cto.1_Intron	p.S473L	NM_130767	NP_570123	WXS	Illumina GAIIx	Phase_I	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	13	1473	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	473			START.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.1418C>T	CCDS4055.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	G	21.9	4.212745	0.79352	6.81E-4	0.0	ENSG00000172497	ENST00000307624	D	0.89050	-2.46	5.74	5.74	0.90152	Lipid-binding START (2);START-like domain (1);	0.000000	0.64402	D	0.000001	D	0.94833	0.8331	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95172	0.8291	10	0.87932	D	0	-22.0383	15.4181	0.74987	0.0:0.0:1.0:0.0	.	473	Q8WYK0	ACO12_HUMAN	L	473	ENSP00000303246:S473L	ENSP00000303246:S473L	S	-	2	0	ACOT12	80662489	1.000000	0.71417	0.397000	0.26308	0.646000	0.38490	5.936000	0.70153	2.716000	0.92895	0.561000	0.74099	TCG		0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		15	17	0	0	0	1	0	15	17					A	80626733	G	A	80626733	3	1	100	1	0	0	0	0	1	0	0	0	150	1059	37	1	257	1	ACOT12	5	80626733	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		80626733	100288527	4	1748											
ZNF608	57507	broad.mit.edu	37	5	124079864	124079864	+	Silent	SNP	T	T	C			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:124079864T>C	ENST00000306315.5	-	1	1254	c.819A>G	c.(817-819)tcA>tcG	p.S273S	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	273							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCATGAGCCCTGAATCCGGGG	0.562																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(817-819)tcA>tcG		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.							118	127	124					5																	124079864		2163	4224	6387	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:124079864T>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.819A>G	5.37:g.124079864T>C			Somatic				ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Silent_p.S273S|ZNF608_uc003ktt.1_Silent_p.S273S	p.S273S	NM_020747	NP_065798	WXS	Illumina GAIIx	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	0	1002	-		all_cancers(142;0.186)|Prostate(80;0.081)	273					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.819A>G	CCDS34219.1																																																																																				0.562	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	212	0	0	0	1	0	4	212					C	124079864	T	C	124079864	2	2	100	1	0	0	0	0	0	0	0	1	18031	1567	55	3		3	ZNF608	5	124079864	Silent	SNP	T	TCGA-DJ-A2Q8-01A-11D-A18F-08	43453131	124079864	56835396	5	1749											
GRM1	2911	broad.mit.edu	37	6	146480652	146480652	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr6:146480652T>G	ENST00000282753.1	+	2	1104	c.869T>G	c.(868-870)tTc>tGc	p.F290C	GRM1_ENST00000507907.1_Missense_Mutation_p.F290C|GRM1_ENST00000392299.2_Missense_Mutation_p.F290C|GRM1_ENST00000361719.2_Missense_Mutation_p.F290C|GRM1_ENST00000355289.4_Missense_Mutation_p.F290C|GRM1_ENST00000492807.2_Missense_Mutation_p.F290C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	290					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTGGTCTGCTTCTGTGAAGGC	0.552																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(868-870)tTc>tGc		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						90	82	85					6																	146480652		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480652T>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.869T>G	6.37:g.146480652T>G	ENSP00000282753:p.Phe290Cys		Somatic				GRM1_uc010khu.1_Missense_Mutation_p.F290C|GRM1_uc010khv.1_Missense_Mutation_p.F290C|GRM1_uc003qll.2_Missense_Mutation_p.F290C|GRM1_uc011edz.1_Missense_Mutation_p.F290C|GRM1_uc011eea.1_Missense_Mutation_p.F290C	p.F290C	NM_000838	NP_000829	WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	1339	+		Ovarian(120;0.0387)	290					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.869T>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725450	0.89298	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.93328	3.405	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;0.999;1.0;0.998	D	0.94331	0.7562	10	0.87932	D	0	.	15.2804	0.73778	0.0:0.0:0.0:1.0	.	290;290;285;290	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	290	ENSP00000354896:F290C;ENSP00000376119:F290C;ENSP00000424095:F290C;ENSP00000282753:F290C;ENSP00000347437:F290C;ENSP00000425599:F290C	ENSP00000282753:F290C	F	+	2	0	GRM1	146522345	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.650000	0.83521	2.019000	0.59389	0.533000	0.62120	TTC		0.552	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		3	86	0	0	0	1	0	3	86					G	146480652	T	G	146480652	3	3	100	1	0	0	0	0	1	0	0	0	6796	1783	62	5	875	5	GRM1	6	146480652	Missense_Mutation	SNP	T	TCGA-DJ-A2Q8-01A-11D-A18F-08		146480652	24634415	6	1750											
VCP	7415	broad.mit.edu	37	9	35065309	35065309	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:35065309G>A	ENST00000358901.6	-	5	1410	c.515C>T	c.(514-516)cCt>cTt	p.P172L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	172					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATGCAATAAGGGCTAGGATC	0.478																																						uc003zvy.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(514-516)cCt>cTt		Homo sapiens valosin containing protein (VCP), mRNA.							132	114	120					9																	35065309		2203	4300	6503	SO:0001583	missense	7415				ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35065309G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.515C>T	9.37:g.35065309G>A	ENSP00000351777:p.Pro172Leu		Somatic				VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.P127L	p.P172L	NM_007126	NP_009057	WXS	Illumina GAIIx	Phase_I	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		4	904	-			172					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.515C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981605	0.93044	.	.	ENSG00000165280	ENST00000358901;ENST00000448530	D;D	0.95103	-3.61;-3.61	6.07	6.07	0.98685	Cell division protein 48, Cdc48, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	M	0.91300	3.195	0.80722	D	1	P	0.51057	0.941	P	0.49477	0.612	D	0.95827	0.8855	10	0.36615	T	0.2	-26.4579	20.6593	0.99626	0.0:0.0:1.0:0.0	.	172	P55072	TERA_HUMAN	L	172;127	ENSP00000351777:P172L;ENSP00000392088:P127L	ENSP00000351777:P172L	P	-	2	0	VCP	35055309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.682000	0.98655	2.885000	0.99019	0.655000	0.94253	CCT		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		18	40	0	0	0	1	0	18	40					A	35065309	G	A	35065309	3	1	100	1	0	0	0	0	1	0	0	0	17137	1000	35	2	1957	2	VCP	9	35065309	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		35065309	106148122	7	1751											
SETX	23064	broad.mit.edu	37	9	135140069	135140069	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:135140069G>C	ENST00000224140.5	-	26	7773	c.7591C>G	c.(7591-7593)Cct>Gct	p.P2531A	SETX_ENST00000393220.1_Missense_Mutation_p.P2498A|SETX_ENST00000372169.2_Missense_Mutation_p.P2560A|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2531					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)		TCATGAACAGGAGGTCTTTCA	0.488																																						uc004cbk.3																			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.(7591-7593)Cct>Gct		Homo sapiens senataxin (SETX), mRNA.							112	112	112					9																	135140069		2203	4300	6503	SO:0001583	missense	23064				RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135140069G>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7591C>G	9.37:g.135140069G>C	ENSP00000224140:p.Pro2531Ala		Somatic				SETX_uc004cbj.3_Missense_Mutation_p.P2179A|SETX_uc010mzt.3_Missense_Mutation_p.P2117A	p.P2531A	NM_015046	NP_055861	WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	25	7774	-		Myeloproliferative disorder(178;0.204)	2531					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7591C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142067	0.09083	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90133	-2.0;-2.62;-2.11;-1.79	4.94	0.674	0.17946	.	0.689788	0.12931	N	0.427382	T	0.81941	0.4929	L	0.51422	1.61	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.63198	-0.6691	10	0.02654	T	1	.	4.1156	0.10079	0.1514:0.1253:0.5945:0.1288	.	2498;2531;2560	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	A	2531;802;2560;2498	ENSP00000224140:P2531A;ENSP00000409143:P802A;ENSP00000361242:P2560A;ENSP00000376913:P2498A	ENSP00000224140:P2531A	P	-	1	0	SETX	134129890	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.028000	0.13644	0.212000	0.20703	0.561000	0.74099	CCT		0.488	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	109	0	0	0	1	0	3	109					C	135140069	G	C	135140069	3	2	100	1	0	0	0	0	1	0	0	0	14141	1174	41	4	446	4	SETX	9	135140069	Missense_Mutation	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08	100074760	135140069	6073362	8	1752											
MYBPC3	4607	broad.mit.edu	37	11	47369997	47369997	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr11:47369997G>A	ENST00000545968.1	-	6	804	c.750C>T	c.(748-750)tcC>tcT	p.S250S	MYBPC3_ENST00000256993.4_Silent_p.S250S|MYBPC3_ENST00000399249.2_Silent_p.S250S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	250	Ig-like C2-type 1.				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)		GATTGAAGTTGGAGCAGTCAA	0.577																																						uc021qis.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(748-750)tcC>tcT		Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.							70	84	79					11																	47369997		2052	4180	6232	SO:0001819	synonymous_variant	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	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47369997G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.750C>T	11.37:g.47369997G>A			Somatic				MYBPC3_uc021qir.1_5'UTR	p.S250S	NM_000256	NP_000247	WXS	Illumina GAIIx	Phase_I	Q14896	MYPC3_HUMAN		Lung(87;0.176)	5	805	-			250			Ig-like C2-type 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.750C>T	CCDS53621.1																																																																																				0.577	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			7	18	0	0	0	1	0	7	18					A	47369997	G	A	47369997	2	1	100	1	0	0	0	0	0	0	0	1	10013	1335	47	2		2	MYBPC3	11	47369997	Silent	SNP	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		47369997	87636519	9	1753											
CREBBP	1387	broad.mit.edu	37	16	3828107	3828107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:3828107A>T	ENST00000262367.5	-	10	2827	c.2018T>A	c.(2017-2019)tTa>tAa	p.L673*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.L635*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	673					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGTTTATGTAAACGCGACCT	0.433			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0		p.R672C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2017-2019)tTa>tAa		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							117	135	129					16																	3828107		2197	4300	6497	SO:0001587	stop_gained	1387				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828107A>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2018T>A	16.37:g.3828107A>T	ENSP00000262367:p.Leu673*		Somatic				CREBBP_uc002cvw.3_Nonsense_Mutation_p.L635*	p.L673*	NM_004380	NP_004371	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	9	2222	-		Ovarian(90;0.0266)	673					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.2018T>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	48	14.364501	0.99792	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2591	16.3265	0.82983	1.0:0.0:0.0:0.0	.	.	.	.	X	673;703;635	.	ENSP00000262367:L673X	L	-	2	0	CREBBP	3768108	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.251000	0.78297	2.313000	0.78055	0.455000	0.32223	TTA		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		7	152	0	0	0	1	0	7	152					T	3828107	A	T	3828107	4	4	100	1	0	0	0	0	0	1	0	0	3861	372	13	5	5398	5	CREBBP	16	3828107	Nonsense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08		3828107	86526646	10	1754											
ATP2C2	9914	broad.mit.edu	37	16	84495624	84495624	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:84495624A>G	ENST00000262429.4	+	26	2700	c.2611A>G	c.(2611-2613)Agg>Ggg	p.R871G	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.R900G|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	871					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						CGGCTTTCTCAGGAACCACAT	0.587																																						uc010chj.3																			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.(2698-2700)Agg>Ggg		Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.							140	152	148					16																	84495624		2084	4200	6284	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84495624A>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2611A>G	16.37:g.84495624A>G	ENSP00000262429:p.Arg871Gly		Somatic				ATP2C2_uc002fhx.3_Missense_Mutation_p.R871G|ATP2C2_uc002fhy.3_Missense_Mutation_p.R888G|ATP2C2_uc002fhz.3_Missense_Mutation_p.R720G|ATP2C2_uc002fia.3_Missense_Mutation_p.R182G	p.R900G	NM_014861	NP_055676	WXS	Illumina GAIIx	Phase_I	O75185	AT2C2_HUMAN			26	2787	+			871					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2698A>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928504	0.34002	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.88354	-2.37;-2.37	5.28	-0.267	0.12938	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.159283	0.41938	D	0.000789	D	0.85652	0.5746	L	0.37630	1.12	0.39498	D	0.968157	B;B;B;B;B	0.32245	0.361;0.361;0.312;0.312;0.361	B;B;B;B;B	0.39771	0.216;0.309;0.205;0.205;0.309	T	0.79317	-0.1853	10	0.40728	T	0.16	.	17.021	0.86433	0.3644:0.6356:0.0:0.0	.	900;720;720;888;871	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	G	900;871;720	ENSP00000397925:R900G;ENSP00000262429:R871G	ENSP00000262429:R871G	R	+	1	2	ATP2C2	83053125	0.994000	0.37717	0.935000	0.37517	0.479000	0.33129	0.439000	0.21575	-0.296000	0.08947	0.459000	0.35465	AGG		0.587	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		3	132	0	0	0	1	0	3	132					G	84495624	A	G	84495624	3	3	100	1	0	0	0	0	1	0	0	0	1144	179	7	3	2713	3	ATP2C2	16	84495624	Missense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08	80667517	84495624	5859129	11	1755											
PRR22	163154	broad.mit.edu	37	19	5783841	5783841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr19:5783841delC	ENST00000419421.2	-	3	521	c.417delG	c.(415-417)gggfs	p.G139fs		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	139	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GAAACTGGGGCCCCCCGGGTG	0.721																																						uc010xiv.1																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(415-417)gggfs		Homo sapiens proline rich 22 (PRR22), mRNA.							4	6	5					19																	5783841		2004	4029	6033	SO:0001589	frameshift_variant	163154							g.chr19:5783841delC	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.417delG	19.37:g.5783841delC	ENSP00000407653:p.Gly139fs		Somatic				PRR22_uc002mdb.1_Frame_Shift_Del_p.G137fs	p.G139fs	NM_001134316	NP_001127788	WXS	Illumina GAIIx	Phase_I	Q8IZ63	PRR22_HUMAN			2	522	-			137			Pro-rich.		E9PB31	Frame_Shift_Del	DEL	ENST00000419421.2	37	c.417delG	CCDS45933.1																																																																																				0.721	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		2	4						2	4	---	---	---	---	-	5783841	C	-	5783841	7	5	100	1	0	1	0	1	0	0	0	0	12593	726	26	0	855	0	PRR22	19	5783841	Frame_Shift_Del	DEL	C	TCGA-DJ-A2Q8-01A-11D-A18F-08		5783841	53345142	12	1756											
ADAM33	80332	broad.mit.edu	37	20	3652627	3652627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr20:3652627delG	ENST00000356518.2	-	15	1844	c.1603delC	c.(1603-1605)cacfs	p.H535fs	ADAM33_ENST00000379861.4_Frame_Shift_Del_p.H535fs|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Frame_Shift_Del_p.H535fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	535	Cys-rich.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGAGCTGGGTGGGAGCCTGAG	0.652																																						uc002wit.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1603-1605)cacfs		Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.							16	15	15					20																	3652627		2161	4225	6386	SO:0001589	frameshift_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652627delG	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1603delC	20.37:g.3652627delG	ENSP00000348912:p.His535fs		Somatic				ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Frame_Shift_Del_p.H535fs|ADAM33_uc002wis.3_Frame_Shift_Del_p.H57fs|ADAM33_uc002wiu.3_Frame_Shift_Del_p.H535fs|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	p.H535fs	NM_025220	NP_079496	WXS	Illumina GAIIx	Phase_I	Q9BZ11	ADA33_HUMAN			14	1690	-			535			Cys-rich.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Frame_Shift_Del	DEL	ENST00000356518.2	37	c.1603delC	CCDS13058.1																																																																																				0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		2	4						2	4	---	---	---	---	-	3652627	G	-	3652627	7	5	100	1	0	1	0	1	0	0	0	0	250	1348	47	0	870	0	ADAM33	20	3652627	Frame_Shift_Del	DEL	G	TCGA-DJ-A2Q8-01A-11D-A18F-08		3652627	59372893	13	1757											
PCDH11X	27328	broad.mit.edu	37	X	91873707	91873707	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chrX:91873707A>G	ENST00000373094.1	+	7	4657	c.3812A>G	c.(3811-3813)cAg>cGg	p.Q1271R	PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1263R|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1253R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1261R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1271					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCGTAGTCAGGCCCAATCA	0.547																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3811-3813)cAg>cGg		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							231	207	215					X																	91873707		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873707A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3812A>G	X.37:g.91873707A>G	ENSP00000362186:p.Gln1271Arg		Somatic				PCDH11X_uc004efl.2_Missense_Mutation_p.Q1261R|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.Q1263R|PCDH11X_uc004efn.2_Missense_Mutation_p.Q1253R|PCDH11X_uc004efo.2_Missense_Mutation_p.Q1234R	p.Q1271R	NM_032968	NP_116750	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			6	4657	+			1271					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3812A>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	5.111	0.206096	0.09704	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.53423	0.65;0.66;0.67;0.62;0.66;0.66	4.28	1.13	0.20643	.	.	.	.	.	T	0.28599	0.0708	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29716	0.255;0.255;0.255;0.255;0.165	B;B;B;B;B	0.28784	0.094;0.094;0.094;0.094;0.043	T	0.20273	-1.0280	9	0.59425	D	0.04	.	4.615	0.12422	0.215:0.5407:0.0:0.2443	.	1234;1253;1263;1261;1271	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	R	1271;1261;1234;1253;1263;1271;1234	ENSP00000362186:Q1271R;ENSP00000362189:Q1261R;ENSP00000362180:Q1234R;ENSP00000355105:Q1253R;ENSP00000384758:Q1263R;ENSP00000298274:Q1234R	ENSP00000298274:Q1234R	Q	+	2	0	PCDH11X	91760363	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.018000	0.12568	0.152000	0.19188	0.380000	0.24917	CAG		0.547	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	258	0	0	0	1	0	4	258					G	91873707	A	G	91873707	3	3	100	1	0	0	0	0	1	0	0	0	11508	188	7	3	3960	3	PCDH11X	23	91873707	Missense_Mutation	SNP	A	TCGA-DJ-A2Q8-01A-11D-A18F-08		91873707	63396853	14	1758											
OR2G6	391211	broad.mit.edu	37	1	248685767	248685767	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr1:248685767G>T	ENST00000343414.4	+	1	852	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAAAGTTTGTTTCTCTTTT	0.438																																						uc001ien.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(820-822)Gtt>Ttt		Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.							101	104	103					1																	248685767		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685767G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.820G>T	1.37:g.248685767G>T	ENSP00000341291:p.Val274Phe		Somatic					p.V274F	NM_001013355	NP_001013373	WXS	Illumina GAIIx	Phase_I	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	820	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	274					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.820G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	13.71	2.319436	0.41096	.	.	ENSG00000188558	ENST00000343414	T	0.38722	1.12	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	U	0.001218	T	0.44456	0.1294	N	0.20530	0.585	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.21280	-1.0250	10	0.31617	T	0.26	.	10.8109	0.46547	0.0:0.1934:0.8066:0.0	.	274	Q5TZ20	OR2G6_HUMAN	F	274	ENSP00000341291:V274F	ENSP00000341291:V274F	V	+	1	0	OR2G6	246752390	0.021000	0.18746	0.998000	0.56505	0.949000	0.60115	0.915000	0.28638	1.964000	0.57103	0.400000	0.26472	GTT		0.438	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		9	73	0	0	0	1	0	9	73					T	248685767	G	T	248685767	3	4	101	1	0	0	0	0	1	0	0	0	11000	1377	48	4	822	4	OR2G6	1	248685767	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		248685767	564854	1	1759											
RTKN	6242	broad.mit.edu	37	2	74656958	74656958	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:74656958A>G	ENST00000233330.6	-	6	919	c.602T>C	c.(601-603)gTt>gCt	p.V201A	RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000305557.5_Missense_Mutation_p.V238A|RTKN_ENST00000272430.5_Missense_Mutation_p.V251A	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCTTACCCAACAACTGGGGT	0.602																																						uc002sle.3																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(751-753)gTt>gCt		Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.							39	38	38					2																	74656958		2203	4300	6503	SO:0001583	missense	6242				Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74656958A>G	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.602T>C	2.37:g.74656958A>G	ENSP00000233330:p.Val201Ala		Somatic				RTKN_uc002slc.3_Missense_Mutation_p.V238A|RTKN_uc002sld.3_Missense_Mutation_p.V201A	p.V251A	NM_001015055	NP_001015056	WXS	Illumina GAIIx	Phase_I	Q9BST9	RTKN_HUMAN			5	869	-			251						Missense_Mutation	SNP	ENST00000233330.6	37	c.752T>C	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085098	0.76642	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.46819	0.86;0.86;0.86	4.77	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.44542	1.39	0.54753	D	0.999984	D;P	0.53619	0.961;0.952	P;P	0.57846	0.828;0.736	T	0.44081	-0.9351	10	0.39692	T	0.17	.	8.4788	0.33030	0.9076:0.0:0.0924:0.0	.	251;238	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	A	238;251;201	ENSP00000305298:V238A;ENSP00000272430:V251A;ENSP00000233330:V201A	ENSP00000233330:V201A	V	-	2	0	RTKN	74510466	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	5.727000	0.68523	0.861000	0.35504	0.459000	0.35465	GTT		0.602	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055		4	43	0	0	0	1	0	4	43					G	74656958	A	G	74656958	3	3	101	1	0	0	0	0	1	0	0	0	13722	43	2	3	967	3	RTKN	2	74656958	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		74656958	168542415	2	1760											
LONRF2	164832	broad.mit.edu	37	2	100903492	100903492	+	Missense_Mutation	SNP	G	G	C	rs371304900		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:100903492G>C	ENST00000393437.3	-	11	2593	c.1954C>G	c.(1954-1956)Ctc>Gtc	p.L652V	LONRF2_ENST00000409647.1_Missense_Mutation_p.L409V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	652	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GAATCGTGGAGAGCGGCAAGT	0.488																																						uc002tal.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1954-1956)Ctc>Gtc		Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.		G	VAL/LEU	0,4406		0,0,2203	107	81	90		1954	4.1	0.0	2		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	LONRF2	NM_198461.3	32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	652/755	100903492	1,13005	2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903492G>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1954C>G	2.37:g.100903492G>C	ENSP00000377086:p.Leu652Val		Somatic				LONRF2_uc010yvs.2_Non-coding_Transcript	p.L652V	NM_198461	NP_940863	WXS	Illumina GAIIx	Phase_I	Q1L5Z9	LONF2_HUMAN			10	2594	-			652			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1954C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158628	0.38119	0.0	1.16E-4	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.42131	0.98;0.98	4.95	4.07	0.47477	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.073467	0.56097	D	0.000030	T	0.64907	0.2641	M	0.80746	2.51	0.51482	D	0.999927	D	0.89917	1.0	D	0.83275	0.996	T	0.68746	-0.5327	10	0.59425	D	0.04	-17.7526	12.9931	0.58632	0.0783:0.0:0.9217:0.0	.	652	Q1L5Z9	LONF2_HUMAN	V	652;409	ENSP00000377086:L652V;ENSP00000386823:L409V	ENSP00000377086:L652V	L	-	1	0	LONRF2	100269924	1.000000	0.71417	0.011000	0.14972	0.007000	0.05969	4.270000	0.58896	1.069000	0.40788	0.655000	0.94253	CTC		0.488	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		3	35	0	0	0	1	0	3	35					C	100903492	G	C	100903492	3	2	101	1	0	0	0	0	1	0	0	0	8895	942	33	4	318	4	LONRF2	2	100903492	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08	26246534	100903492	142295881	3	1761											
PTPRN	5798	broad.mit.edu	37	2	220162111	220162111	+	Silent	SNP	C	C	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:220162111C>G	ENST00000295718.2	-	14	2172	c.1932G>C	c.(1930-1932)cgG>cgC	p.R644R	PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Silent_p.R554R|PTPRN_ENST00000409251.3_Silent_p.R615R|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	644					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACCCTCTGCCCGGTTGAACA	0.627																																						uc002vkz.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1930-1932)cgG>cgC		Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.							61	63	62					2																	220162111		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162111C>G		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1932G>C	2.37:g.220162111C>G			Somatic				PTPRN_uc010zlc.2_Silent_p.R554R|PTPRN_uc002vla.3_Silent_p.R615R	p.R644R	NM_002846	NP_001186693	WXS	Illumina GAIIx	Phase_I	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	2173	-		Renal(207;0.0474)	644					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.1932G>C	CCDS2440.1																																																																																				0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			6	56	0	0	0	1	0	6	56					G	220162111	C	G	220162111	2	3	101	1	0	0	0	0	0	0	0	1	12807	610	22	4		4	PTPRN	2	220162111	Silent	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08	119258619	220162111	23037262	4	1762											
DOCK10	55619	broad.mit.edu	37	2	225739448	225739448	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr2:225739448T>C	ENST00000258390.7	-	9	1019	c.952A>G	c.(952-954)Act>Gct	p.T318A	DOCK10_ENST00000409592.3_Missense_Mutation_p.T312A	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	318					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)			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)		CATTCACAAGTTACAGAATTA	0.373																																						uc010fwz.1																			0				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.(952-954)Act>Gct		Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.							143	136	138					2																	225739448		1865	4110	5975	SO:0001583	missense	55619						GTP binding	g.chr2:225739448T>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.952A>G	2.37:g.225739448T>C	ENSP00000258390:p.Thr318Ala		Somatic				DOCK10_uc002vob.2_Missense_Mutation_p.T312A|DOCK10_uc002vod.1_Missense_Mutation_p.T318A	p.T318A	NM_014689	NP_055504	WXS	Illumina GAIIx	Phase_I	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)	8	1191	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	318					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.952A>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	6.428	0.447078	0.12223	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.03212	4.01;4.01	5.4	-0.3	0.12804	.	1.134760	0.06277	N	0.696709	T	0.03564	0.0102	L	0.40543	1.245	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.49093	-0.8975	10	0.18710	T	0.47	.	5.1807	0.15158	0.0:0.2482:0.1404:0.6114	.	318;318;312	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	A	312;318	ENSP00000386694:T312A;ENSP00000258390:T318A	ENSP00000258390:T318A	T	-	1	0	DOCK10	225447692	0.930000	0.31532	0.062000	0.19696	0.268000	0.26511	1.404000	0.34623	-0.244000	0.09639	-0.379000	0.06801	ACT		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			11	114	0	0	0	1	0	11	114					C	225739448	T	C	225739448	3	2	101	1	0	0	0	0	1	0	0	0	4685	1725	60	3	5800	3	DOCK10	2	225739448	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08	5577337	225739448	17459925	5	1763											
PIK3CB	5291	broad.mit.edu	37	3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:138374244T>A	ENST00000477593.1	-	23	3273	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V|PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCTGTAGTCTTTCCGAAC	0.408																																						uc011bmq.2																			1	Substitution - Missense(1)	p.D1067V(2)	skin(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(3199-3201)gAc>gTc		Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.							139	129	132					3																	138374244		2203	4300	6503	SO:0001583	missense	5291				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138374244T>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3200A>T	3.37:g.138374244T>A	ENSP00000418143:p.Asp1067Val		Somatic				PIK3CB_uc011bmn.2_Missense_Mutation_p.D579V|PIK3CB_uc011bmo.2_Missense_Mutation_p.D518V|PIK3CB_uc011bmp.2_Missense_Mutation_p.D654V|PIK3CB_uc003est.1_Non-coding_Transcript	p.D1067V	NM_006219	NP_006210	WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			21	3200	-			1067			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3200A>T	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.64|19.64	3.866111|3.866111	0.71949|0.71949	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.71934|.	-0.61;-0.19;-0.61|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Phosphatidylinositol 3-/4-kinase, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75133|0.75133	0.3808|0.3808	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77557|.	0.99;0.987;0.99|.	T|T	0.75645|0.75645	-0.3246|-0.3246	10|5	0.66056|.	D|.	0.02|.	-22.5439|-22.5439	15.8615|15.8615	0.79026|0.79026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1067;654;518|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	V|S	1067;518;1067|699	ENSP00000418143:D1067V;ENSP00000438259:D518V;ENSP00000289153:D1067V|.	ENSP00000289153:D1067V|.	D|T	-|-	2|1	0|0	PIK3CB|PIK3CB	139856934|139856934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.408	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			5	65	0	0	0	1	0	5	65					A	138374244	T	A	138374244	3	1	101	1	0	0	0	0	1	0	0	0	11914	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		138374244	59648186	6	1764											
WDR49	151790	broad.mit.edu	37	3	167245799	167245799	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr3:167245799A>G	ENST00000308378.3	-	11	1662	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.C278R|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	453										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAGTTAAGACAGTACTCCTGA	0.353																																						uc003fev.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1357-1359)Tgt>Cgt		Homo sapiens WD repeat domain 49 (WDR49), mRNA.							106	101	103					3																	167245799		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167245799A>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1357T>C	3.37:g.167245799A>G	ENSP00000311343:p.Cys453Arg		Somatic				WDR49_uc003feu.1_Missense_Mutation_p.C278R|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.C453R	NM_178824	NP_849146	WXS	Illumina GAIIx	Phase_I	Q8IV35	WDR49_HUMAN			10	1661	-			453					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1357T>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	15.31	2.795381	0.50208	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.58652	0.32;1.56	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.366820	0.32769	N	0.005671	T	0.75117	0.3806	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.74444	-0.3663	10	0.25106	T	0.35	.	13.4893	0.61386	1.0:0.0:0.0:0.0	.	453	Q8IV35	WDR49_HUMAN	R	453;278	ENSP00000311343:C453R;ENSP00000420508:C278R	ENSP00000311343:C453R	C	-	1	0	WDR49	168728493	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	4.399000	0.59703	2.178000	0.69098	0.455000	0.32223	TGT		0.353	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		7	37	0	0	0	1	0	7	37					G	167245799	A	G	167245799	3	3	101	1	0	0	0	0	1	0	0	0	17299	188	7	3	756	3	WDR49	3	167245799	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08	28871555	167245799	30776631	7	1765											
USP46	64854	broad.mit.edu	37	4	53492228	53492228	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:53492228T>C	ENST00000441222.3	-	4	702	c.518A>G	c.(517-519)cAg>cGg	p.Q173R	USP46_ENST00000508499.1_Missense_Mutation_p.Q166R|USP46_ENST00000451218.2_Missense_Mutation_p.Q146R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	173	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AAGCGTTCCCTGAAAAATCTC	0.383																																						uc003gzn.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12						c.(517-519)cAg>cGg		Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.							123	117	119					4																	53492228		1869	4137	6006	SO:0001583	missense	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53492228T>C	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.518A>G	4.37:g.53492228T>C	ENSP00000407818:p.Gln173Arg		Somatic				USP46_uc003gzm.4_Missense_Mutation_p.Q166R|USP46_uc011bzr.2_Missense_Mutation_p.Q150R|USP46_uc011bzs.2_Missense_Mutation_p.Q57R	p.Q173R	NM_022832	NP_073743	WXS	Illumina GAIIx	Phase_I	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		3	703	-			173					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.518A>G	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958840	0.53400	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.31247	1.5;1.5;1.5	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000018	T	0.33818	0.0876	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.18610	0.02;0.011;0.029;0.01	B;B;B;B	0.29077	0.059;0.059;0.098;0.025	T	0.13872	-1.0493	10	0.12430	T	0.62	-17.1457	14.345	0.66654	0.0:0.0:0.0:1.0	.	57;161;173;166	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	173;146;166	ENSP00000407818:Q173R;ENSP00000390102:Q146R;ENSP00000423244:Q166R	ENSP00000407818:Q173R	Q	-	2	0	USP46	53186985	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	6.263000	0.72521	2.046000	0.60703	0.528000	0.53228	CAG		0.383	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		3	56	0	0	0	1	0	3	56					C	53492228	T	C	53492228	3	2	101	1	0	0	0	0	1	0	0	0	17074	1580	55	3	606	3	USP46	4	53492228	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		53492228	137662048	8	1766											
SHROOM3	57619	broad.mit.edu	37	4	77700311	77700311	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr4:77700311C>T	ENST00000296043.6	+	11	6925	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1991					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATTTTCCCAACATTAACCTCT	0.448																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5971-5973)aCa>aTa		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							59	61	60					4																	77700311		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700311C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5972C>T	4.37:g.77700311C>T	ENSP00000296043:p.Thr1991Ile		Somatic				SHROOM3_uc003hkg.3_Missense_Mutation_p.T1769I	p.T1991I	NM_020859	NP_065910	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6925	+			1991					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5972C>T	CCDS3579.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172615|2.172615	0.38413|0.38413	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000264907|ENST00000296043	.|T	.|0.23754	.|1.89	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|1.262800	.|0.05565	.|N	.|0.570102	T|T	0.24005|0.24005	0.0581|0.0581	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P	.|0.40476	.|0.718	.|B	.|0.33890	.|0.172	T|T	0.49153|0.49153	-0.8969|-0.8969	6|10	0.87932|0.62326	D|D	0|0.03	-0.7361|-0.7361	18.0389|18.0389	0.89313|0.89313	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1991	.|Q8TF72	.|SHRM3_HUMAN	Y|I	258|1991	.|ENSP00000296043:T1991I	ENSP00000264907:H258Y|ENSP00000296043:T1991I	H|T	+|+	1|2	0|0	SHROOM3|SHROOM3	77919335|77919335	0.187000|0.187000	0.23238|0.23238	0.005000|0.005000	0.12908|0.12908	0.024000|0.024000	0.10985|0.10985	5.496000|5.496000	0.66918|0.66918	2.498000|2.498000	0.84270|0.84270	0.586000|0.586000	0.80456|0.80456	CAT|ACA		0.448	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	51	0	0	0	1	0	4	51					T	77700311	C	T	77700311	3	4	101	1	0	0	0	0	1	0	0	0	14295	478	17	2	6014	2	SHROOM3	4	77700311	Missense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08	24208083	77700311	113453965	9	1767											
EGFLAM	133584	broad.mit.edu	37	5	38451448	38451448	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:38451448A>G	ENST00000354891.3	+	20	2945	c.2599A>G	c.(2599-2601)Agg>Ggg	p.R867G	EGFLAM_ENST00000397202.2_Missense_Mutation_p.R225G|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R625G|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R859G|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R2G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	867	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTGTTCATGAGGTTTAAAAC	0.473																																					Colon(62;485 1295 3347 17454)	uc003jlc.2																			0		p.G867D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2599-2601)Agg>Ggg		Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.							217	197	204					5																	38451448		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451448A>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2599A>G	5.37:g.38451448A>G	ENSP00000346964:p.Arg867Gly		Somatic				EGFLAM_uc003jlb.2_Missense_Mutation_p.R859G|EGFLAM_uc003jle.2_Missense_Mutation_p.R625G|EGFLAM_uc003jlf.2_Missense_Mutation_p.R225G|EGFLAM_uc003jlg.2_Missense_Mutation_p.R2G	p.R867G	NM_001205301	NP_001192230	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			19	2945	+	all_lung(31;0.000385)		867			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2599A>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772459	0.69992	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-0.05;-0.05;-1.23;-0.05	5.78	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.148946	0.64402	D	0.000020	D	0.83326	0.5230	L	0.60957	1.885	0.44825	D	0.997838	D;D;P	0.69078	0.997;0.973;0.93	D;P;P	0.64042	0.921;0.773;0.736	T	0.82484	-0.0434	10	0.56958	D	0.05	-10.5348	12.3629	0.55213	0.7329:0.2671:0.0:0.0	.	625;867;859	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	G	867;859;625;225;625;2;2;2;2	ENSP00000346964:R867G;ENSP00000313084:R859G;ENSP00000337607:R625G;ENSP00000380385:R225G;ENSP00000380393:R2G;ENSP00000425579:R2G;ENSP00000427228:R2G;ENSP00000423228:R2G	ENSP00000313084:R859G	R	+	1	2	EGFLAM	38487205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.347000	0.59373	0.413000	0.25759	0.528000	0.53228	AGG		0.473	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		3	100	0	0	0	1	0	3	100					G	38451448	A	G	38451448	3	3	101	1	0	0	0	0	1	0	0	0	4966	295	11	3	2663	3	EGFLAM	5	38451448	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		38451448	142463812	10	1768											
AP3B1	8546	broad.mit.edu	37	5	77452176	77452177	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr5:77452176_77452177TC>AT	ENST00000255194.6	-	14	1553_1554	c.1378_1379GA>AT	c.(1378-1380)GAa>ATa	p.E460I	AP3B1_ENST00000519295.1_Missense_Mutation_p.E411I	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	460					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)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AACCACACTTTCAGCAACAACT	0.297									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1378-1380)gaa>ATa		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.																																				SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77452176_77452177TC>AT	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1378_1379delinsAT	5.37:g.77452176_77452177delinsAT	ENSP00000255194:p.Glu460Ile		Somatic					p.E460I	NM_003664	NP_003655	WXS	Illumina GAIIx	Phase_I	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	13	1503_1504	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	460					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	DNP	ENST00000255194.6	37	c.1378_1379GA>AT	CCDS4041.1																																																																																				0.297	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			7	76	0	0	0	1	0	7	76					AT	77452177	TC	AT	77452176	3	1	101	1	0	0	0	0	1	0	0	0	744	1783	62	5	1961	5	AP3B1	5	77452176	Missense_Mutation	DNP	TC	TCGA-DJ-A2Q9-01A-21D-A18F-08	39000728	77452176	103463084	11	1769											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		3	55	0	0	0	1	0	3	55					T	140453136	A	T	140453136	3	4	101	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2Q9-01A-21D-A18F-08		140453136	18685527	12	1770											
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						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)			TGACGAAGCCGGTGGCCGCCT	0.716																																						uc003zaa.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.(6805-6807)acC>acT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							36	36	36					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940615G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A			Somatic					p.T2269T	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	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)		0	6820	-	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)		2269					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6807C>T																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		7	55	0	0	0	1	0	7	55					A	144940615	G	A	144940615	2	1	101	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940615	Silent	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		144940615	1423407	13	1771											
LPPR1	54886	broad.mit.edu	37	9	104071536	104071536	+	Silent	SNP	C	C	T	rs199553611		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr9:104071536C>T	ENST00000374874.3	+	5	868	c.429C>T	c.(427-429)aaC>aaT	p.N143N	LPPR1_ENST00000395056.2_Silent_p.N143N	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		143					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TTTTTGTAAACGCCGGACAAG	0.418																																						uc004bbb.3																			0											c.(427-429)aaC>aaT		Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	174	160	165		429,429	-7.2	0.9	9		165	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	LPPR1	NM_017753.2,NM_207299.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	143/326,143/326	104071536	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54886					integral to membrane	catalytic activity	g.chr9:104071536C>T																												ENST00000374874.3:c.429C>T	9.37:g.104071536C>T			Somatic				LPPR1_uc011lvi.2_Silent_p.N119N|LPPR1_uc004bbc.3_Silent_p.N143N|LPPR1_uc010mtc.3_Silent_p.N127N	p.N143N	NM_207299	NP_997182	WXS	Illumina GAIIx	Phase_I	Q8TBJ4	LPPR1_HUMAN			4	828	+			143					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.429C>T	CCDS6751.1																																																																																				0.418	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			9	71	0	0	0	1	0	9	71					T	104071536	C	T	104071536	2	4	101	1	0	0	0	0	0	0	0	1	8924	535	19	1		1	LPPR1	9	104071536	Silent	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		104071536	37141895	14	1772											
FZD8	8325	broad.mit.edu	37	10	35930194	35930194	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:35930194T>C	ENST00000374694.1	-	1	168	c.164A>G	c.(163-165)aAt>aGt	p.N55S	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	55	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GTTGAACTGATTGGGCATGTA	0.617																																						uc001iyz.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(163-165)aAt>aGt		Homo sapiens frizzled family receptor 8 (FZD8), mRNA.							152	114	127					10																	35930194		2203	4300	6503	SO:0001583	missense	8325				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35930194T>C	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.164A>G	10.37:g.35930194T>C	ENSP00000363826:p.Asn55Ser		Somatic					p.N55S	NM_031866	NP_114072	WXS	Illumina GAIIx	Phase_I	Q9H461	FZD8_HUMAN			0	169	-			55			FZ.			Missense_Mutation	SNP	ENST00000374694.1	37	c.164A>G	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285227	0.59867	.	.	ENSG00000177283	ENST00000374694	T	0.61274	0.12	3.92	3.92	0.45320	Frizzled domain (5);	0.138862	0.45126	U	0.000393	T	0.79387	0.4437	M	0.91768	3.24	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	D	0.84070	0.0379	10	0.66056	D	0.02	.	13.0623	0.59014	0.0:0.0:0.0:1.0	.	55	Q9H461	FZD8_HUMAN	S	55	ENSP00000363826:N55S	ENSP00000363826:N55S	N	-	2	0	FZD8	35970200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.810000	0.86072	1.560000	0.49568	0.379000	0.24179	AAT		0.617	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	33	0	0	0	1	0	3	33					C	35930194	T	C	35930194	3	2	101	1	0	0	0	0	1	0	0	0	6136	1493	52	3	1924	3	FZD8	10	35930194	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		35930194	99604553	15	1773											
DUSP13	142891	broad.mit.edu	37	10	76868831	76868831	+	5'Flank	SNP	G	G	A			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:76868831G>A	ENST00000542569.1	+	0	0				DUSP13_ENST00000372700.3_Missense_Mutation_p.R29W|DUSP13_ENST00000607009.1_5'UTR|SAMD8_ENST00000372687.4_5'Flank|DUSP13_ENST00000372702.3_Missense_Mutation_p.R29W|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|SAMD8_ENST00000372690.3_5'Flank	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCCCTGCCCGCAGGAGCTCC	0.642																																						uc001jww.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(85-87)Cgg>Tgg		Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.							79	66	70					10																	76868831		2203	4300	6503	SO:0001631	upstream_gene_variant	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868831G>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868831G>A	Exception_encountered		Somatic				SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Missense_Mutation_p.R29W|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	p.R29W	NM_001007272	NP_057448	WXS	Illumina GAIIx	Phase_I	Q6B8I1	MDSP_HUMAN			0	140	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		29					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.85C>T	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	5.928	0.355267	0.11239	.	.	ENSG00000079393	ENST00000372702;ENST00000372700	T;T	0.60797	0.16;3.37	5.52	-1.97	0.07503	.	.	.	.	.	T	0.38983	0.1061	N	0.02158	-0.66	0.44477	D	0.99741	D;D	0.65815	0.995;0.989	P;P	0.50708	0.648;0.54	T	0.55354	-0.8154	9	0.87932	D	0	.	15.5613	0.76249	0.0:0.0:0.5835:0.4165	.	29;29	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	W	29	ENSP00000361787:R29W;ENSP00000361785:R29W	ENSP00000361785:R29W	R	-	1	2	DUSP13	76538837	0.978000	0.34361	0.921000	0.36526	0.418000	0.31294	0.073000	0.14640	0.040000	0.15660	-0.272000	0.10252	CGG		0.642	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		3	39	0	0	0	1	0	3	39					A	76868831	G	A	76868831	1	1	101	0	1	0	0	0	0	0	0	0	4813	1086	38	1		1	DUSP13	10	76868831	5'Flank	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08	40938637	76868831	58665916	16	1774											
MKI67	4288	broad.mit.edu	37	10	129905423	129905423	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr10:129905423T>C	ENST00000368654.3	-	13	5056	c.4681A>G	c.(4681-4683)Aaa>Gaa	p.K1561E	MKI67_ENST00000368653.3_Missense_Mutation_p.K1201E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1561	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTCCAGTTTCTGCACTGGA	0.493																																						uc001lke.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4681-4683)Aaa>Gaa		Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.							268	243	251					10																	129905423		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905423T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4681A>G	10.37:g.129905423T>C	ENSP00000357643:p.Lys1561Glu		Somatic				MKI67_uc001lkf.3_Missense_Mutation_p.K1201E|MKI67_uc009yav.1_Missense_Mutation_p.K1136E|MKI67_uc009yaw.1_Missense_Mutation_p.K711E	p.K1561E	NM_002417	NP_002408	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			12	4876	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1561			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4681A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167279	0.57476	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02974	4.09;4.09	4.21	3.07	0.35406	.	0.501759	0.18604	N	0.136346	T	0.07548	0.0190	L	0.52905	1.665	0.09310	N	1	P;P;D	0.76494	0.94;0.811;0.999	P;B;D	0.69824	0.638;0.382;0.966	T	0.15607	-1.0431	10	0.09084	T	0.74	.	7.5474	0.27775	0.0:0.1033:0.0:0.8967	.	1560;1201;1561	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	E	1561;1201;1560	ENSP00000357643:K1561E;ENSP00000357642:K1201E	ENSP00000357642:K1201E	K	-	1	0	MKI67	129795413	0.012000	0.17670	0.006000	0.13384	0.041000	0.13682	1.872000	0.39549	0.606000	0.29965	0.379000	0.24179	AAA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		17	192	0	0	0	1	0	17	192					C	129905423	T	C	129905423	3	2	101	1	0	0	0	0	1	0	0	0	9598	1792	62	3	5101	3	MKI67	10	129905423	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08	53036592	129905423	5629324	17	1775											
LRP5	4041	broad.mit.edu	37	11	68181159	68181159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr11:68181159C>T	ENST00000294304.7	+	12	2612	c.2506C>T	c.(2506-2508)Cag>Tag	p.Q836*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	836	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATGCAGGTCAGGAGCGGGT	0.607																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2506-2508)Cag>Tag		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							89	67	74					11																	68181159		2200	4294	6494	SO:0001587	stop_gained	4041				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181159C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2506C>T	11.37:g.68181159C>T	ENSP00000294304:p.Gln836*		Somatic				LRP5_uc009ysg.3_Nonsense_Mutation_p.Q246*	p.Q836*	NM_002335	NP_002326	WXS	Illumina GAIIx	Phase_I	O75197	LRP5_HUMAN			11	2581	+			836			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Nonsense_Mutation	SNP	ENST00000294304.7	37	c.2506C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	38	6.686412	0.97764	.	.	ENSG00000162337	ENST00000294304	.	.	.	4.8	4.8	0.61643	.	0.321536	0.21837	U	0.068394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7412	0.62849	0.0:0.8459:0.1541:0.0	.	.	.	.	X	836	.	ENSP00000294304:Q836X	Q	+	1	0	LRP5	67937735	0.889000	0.30405	1.000000	0.80357	0.378000	0.30076	3.265000	0.51561	2.485000	0.83878	0.462000	0.41574	CAG		0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	50	0	0	0	1	0	4	50					T	68181159	C	T	68181159	4	4	101	1	0	0	0	0	0	1	0	0	8960	827	29	2	2552	2	LRP5	11	68181159	Nonsense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		68181159	66825357	18	1776											
PCDH9	5101	broad.mit.edu	37	13	67801027	67801027	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr13:67801027C>T	ENST00000377865.2	-	1	1680	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	PCDH9_ENST00000328454.5_Missense_Mutation_p.D516N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D516N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D516N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D516N			Q9HC56	PCDH9_HUMAN	protocadherin 9	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		CGGTCCAGATCAAAGAAGGAG	0.433																																						uc001vik.3																			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.(1546-1548)Gat>Aat		Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.							97	100	99					13																	67801027		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801027C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1546G>A	13.37:g.67801027C>T	ENSP00000367096:p.Asp516Asn		Somatic				PCDH9_uc001vil.3_Missense_Mutation_p.D516N|PCDH9_uc010thl.2_Missense_Mutation_p.D516N|PCDH9_uc001vin.3_Missense_Mutation_p.D516N	p.D516N	NM_203487	NP_982354	WXS	Illumina GAIIx	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	1	2238	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	516			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1546G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995527	0.19043	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	N	0.01284	-0.91	0.80722	D	1	B;B;B;B	0.22909	0.004;0.004;0.077;0.015	B;B;B;B	0.22601	0.017;0.023;0.023;0.04	T	0.19289	-1.0310	10	0.31617	T	0.26	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	516;516;516;516	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	516	ENSP00000442186:D516N;ENSP00000367096:D516N;ENSP00000401699:D516N;ENSP00000332060:D516N;ENSP00000367092:D516N	ENSP00000332060:D516N	D	-	1	0	PCDH9	66699028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.894000	0.99253	0.655000	0.94253	GAT		0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		4	80	0	0	0	1	0	4	80					T	67801027	C	T	67801027	3	4	101	1	0	0	0	0	1	0	0	0	11518	826	29	2	2183	2	PCDH9	13	67801027	Missense_Mutation	SNP	C	TCGA-DJ-A2Q9-01A-21D-A18F-08		67801027	47368851	19	1777											
ZFHX3	463	broad.mit.edu	37	16	72829670	72829670	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr16:72829670T>C	ENST00000268489.5	-	9	7583	c.6911A>G	c.(6910-6912)cAg>cGg	p.Q2304R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1390R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2304					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)				GCCCTCTCCCTGATTCTCATA	0.443																																						uc002fck.3																			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.(6910-6912)cAg>cGg		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							127	130	129					16																	72829670		2198	4300	6498	SO:0001583	missense	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.chr16:72829670T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6911A>G	16.37:g.72829670T>C	ENSP00000268489:p.Gln2304Arg		Somatic				ZFHX3_uc002fcl.3_Missense_Mutation_p.Q1390R	p.Q2304R	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			8	7584	-		Ovarian(137;0.13)	2304					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6911A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241826	0.58995	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76709	-1.04;-1.02	5.65	5.65	0.86999	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.47852	D	0.000219	D	0.83128	0.5187	L	0.41492	1.28	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	D	0.84602	0.0673	10	0.62326	D	0.03	.	15.8734	0.79141	0.0:0.0:0.0:1.0	.	2304	Q15911	ZFHX3_HUMAN	R	2304;1390	ENSP00000268489:Q2304R;ENSP00000438926:Q1390R	ENSP00000268489:Q2304R	Q	-	2	0	ZFHX3	71387171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.147000	0.66899	0.459000	0.35465	CAG		0.443	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	129	0	0	0	1	0	3	129					C	72829670	T	C	72829670	3	2	101	1	0	0	0	0	1	0	0	0	17631	1580	55	3	4208	3	ZFHX3	16	72829670	Missense_Mutation	SNP	T	TCGA-DJ-A2Q9-01A-21D-A18F-08		72829670	17525083	20	1778											
MGAT5B	146664	broad.mit.edu	37	17	74878302	74878302	+	Missense_Mutation	SNP	G	G	A	rs377057899		TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chr17:74878302G>A	ENST00000569840.2	+	3	825	c.251G>A	c.(250-252)cGc>cAc	p.R84H	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R95H|MGAT5B_ENST00000565675.1_Missense_Mutation_p.R84H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R84H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	84					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGTGAAGCGCATGGACGCA	0.672																																						uc002jti.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(283-285)cGc>cAc		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.							32	29	30					17																	74878302		2203	4299	6502	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74878302G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.251G>A	17.37:g.74878302G>A	ENSP00000456037:p.Arg84His		Somatic				MGAT5B_uc002jtg.4_Missense_Mutation_p.R84H|MGAT5B_uc002jth.3_Missense_Mutation_p.R84H	p.R95H	NM_198955	NP_945193	WXS	Illumina GAIIx	Phase_I	Q3V5L5	MGT5B_HUMAN			1	387	+			84					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.284G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149341	0.94645	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.58797	0.33;0.31	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.70570	0.3239	L	0.54323	1.7	0.52099	D	0.999945	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.69289	-0.5184	10	0.40728	T	0.16	-33.2215	14.2918	0.66284	0.0:0.0:1.0:0.0	.	95;84	Q3V5L5-2;Q3V5L5-5	.;.	H	84;84;95	ENSP00000301618:R84H;ENSP00000391227:R95H	ENSP00000301618:R84H	R	+	2	0	MGAT5B	72389897	1.000000	0.71417	0.953000	0.39169	0.944000	0.59088	7.814000	0.86154	2.428000	0.82296	0.561000	0.74099	CGC		0.672	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		6	21	0	0	0	1	0	6	21					A	74878302	G	A	74878302	3	1	101	1	0	0	0	0	1	0	0	0	9549	1087	38	1	362	1	MGAT5B	17	74878302	Missense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		74878302	6316908	21	1779											
ABCB7	22	broad.mit.edu	37	X	74293735	74293735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q9-01A-21D-A18F-08	TCGA-DJ-A2Q9-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adf1cfbc-98f6-4cab-9dd2-adbc4b68563d	fa3be43f-26a6-4058-bf98-43f73d552719	g.chrX:74293735G>T	ENST00000373394.3	-	7	919	c.912C>A	c.(910-912)taC>taA	p.Y304*	ABCB7_ENST00000339447.4_Nonsense_Mutation_p.Y264*|ABCB7_ENST00000253577.3_Nonsense_Mutation_p.Y305*|ABCB7_ENST00000534570.1_5'UTR			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	304	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGAATGCTGTGTATGTACCAA	0.373																																						uc004ebz.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(913-915)taC>taA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.							121	100	107					X																	74293735		2203	4300	6503	SO:0001587	stop_gained	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74293735G>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.912C>A	X.37:g.74293735G>T	ENSP00000362492:p.Tyr304*		Somatic				ABCB7_uc010nlt.3_Nonsense_Mutation_p.Y264*|ABCB7_uc004eca.3_Nonsense_Mutation_p.Y304*|ABCB7_uc011mqn.2_Nonsense_Mutation_p.Y278*|ABCB7_uc010nls.3_Nonsense_Mutation_p.Y265*	p.Y305*	NM_004299	NP_004290	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			6	940	-			304			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Nonsense_Mutation	SNP	ENST00000373394.3	37	c.915C>A		.	.	.	.	.	.	.	.	.	.	G	37	6.631738	0.97722	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	.	.	.	5.23	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.6288	8.4544	0.32890	0.3374:0.0:0.6626:0.0	.	.	.	.	X	278;305;264;304;278	.	ENSP00000253577:Y305X	Y	-	3	2	ABCB7	74210460	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	0.742000	0.26216	0.141000	0.18875	0.506000	0.49869	TAC		0.373	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		4	55	0	0	0	1	0	4	55					T	74293735	G	T	74293735	4	4	101	1	0	0	0	0	0	1	0	0	46	1372	48	4	1386	4	ABCB7	23	74293735	Nonsense_Mutation	SNP	G	TCGA-DJ-A2Q9-01A-21D-A18F-08		74293735	80976825	22	1780											
ARHGEF2	9181	broad.mit.edu	37	1	155927538	155927538	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:155927538T>C	ENST00000361247.4	-	13	1780	c.1681A>G	c.(1681-1683)Acc>Gcc	p.T561A	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T533A|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.T533A|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T560A|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.T606A|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.T562A	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	561	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGATCCAGGTGCTCCGGTCA	0.582																																					Melanoma(178;35 2768 6610 28839)	uc001fmu.2																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1813-1815)Acc>Gcc		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.							104	75	85					1																	155927538		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	g.chr1:155927538T>C	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1681A>G	1.37:g.155927538T>C	ENSP00000354837:p.Thr561Ala		Somatic				ARHGEF2_uc001fmr.2_Missense_Mutation_p.T533A|ARHGEF2_uc001fms.2_Missense_Mutation_p.T560A|ARHGEF2_uc001fmt.2_Missense_Mutation_p.T561A	p.T605A	NM_004723	NP_004714	WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			16	2068	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		561					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1813A>G	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336060	0.60963	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000139	T	0.69133	0.3077	L	0.42245	1.32	0.40475	D	0.980385	B;P;B	0.52463	0.387;0.953;0.175	B;P;B	0.54759	0.262;0.76;0.171	T	0.70410	-0.4879	10	0.38643	T	0.18	-35.919	13.1991	0.59756	0.0:0.0:0.0:1.0	.	605;561;560	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	A	533;561;562;533;560	ENSP00000315325:T533A;ENSP00000354837:T561A;ENSP00000357298:T562A;ENSP00000357299:T533A;ENSP00000314787:T560A	ENSP00000314787:T560A	T	-	1	0	ARHGEF2	154194162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.389000	0.34453	2.213000	0.71641	0.528000	0.53228	ACC		0.582	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		5	57	0	0	0	1	0	5	57					C	155927538	T	C	155927538	3	2	102	1	0	0	0	0	1	0	0	0	903	1696	59	3	1319	3	ARHGEF2	1	155927538	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08		155927538	93323083	1	1781											
CRP	1401	broad.mit.edu	37	1	159683396	159683396	+	Silent	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr1:159683396G>A	ENST00000255030.5	-	2	697	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CRP_ENST00000368111.1_Silent_p.F76F|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Silent_p.F76F|CRP_ENST00000343919.2_Silent_p.F76F|CRP_ENST00000437342.1_Silent_p.F20F|CRP_ENST00000473196.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	198	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CATTAGGACTGAAGGGCCCGC	0.542																																						uc001ftw.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(592-594)ttC>ttT		Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	Atorvastatin(DB01076)|Bezafibrate(DB01393)						76	78	77					1																	159683396		2203	4300	6503	SO:0001819	synonymous_variant	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683396G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.594C>T	1.37:g.159683396G>A			Somatic				CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	p.F198F	NM_000567	NP_000558	WXS	Illumina GAIIx	Phase_I	P02741	CRP_HUMAN			1	698	-	all_hematologic(112;0.0429)		198			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.594C>T	CCDS30911.1																																																																																				0.542	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		31	101	0	0	0	1	0	31	101					A	159683396	G	A	159683396	2	1	102	1	0	0	0	0	0	0	0	1	3895	1281	45	2		2	CRP	1	159683396	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	3755858	159683396	89567225	2	1782											
APOB	338	broad.mit.edu	37	2	21229161	21229161	+	Missense_Mutation	SNP	G	G	A	rs144467873	byFrequency	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:21229161G>A	ENST00000233242.1	-	26	10706	c.10579C>T	c.(10579-10581)Cgg>Tgg	p.R3527W		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3527			R -> Q (in FDB; dbSNP:rs5742904). {ECO:0000269|PubMed:21382890, ECO:0000269|PubMed:2563166, ECO:0000269|PubMed:9259199}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGAAGACCGTGTGCTCTTG	0.433													G|||	2	0.000399361	0	0	5008	,	,		21124	0.001		0	False		,,,				2504	0.001					uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CM950075	APOB	M	rs144467873	c.(10579-10581)Cgg>Tgg		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)	G	TRP/ARG	0,4406		0,0,2203	132	135	134		10579	5.0	0.9	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense	APOB	NM_000384.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3527/4564	21229161	1,13005	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229161G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10579C>T	2.37:g.21229161G>A	ENSP00000233242:p.Arg3527Trp		Somatic					p.R3527W	NM_000384	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			25	10707	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3527		R -> Q (in FDB; dbSNP:rs5742904).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10579C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822054	0.50739	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	D	0.81499	-1.5	5.85	4.97	0.65823	.	0.000000	0.52532	D	0.000076	D	0.89220	0.6653	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90473	0.4454	10	0.87932	D	0	.	14.0194	0.64545	0.0:0.0:0.7246:0.2754	.	3527	P04114	APOB_HUMAN	W	3527	ENSP00000233242:R3527W	ENSP00000233242:R3527W	R	-	1	2	APOB	21082666	1.000000	0.71417	0.920000	0.36463	0.571000	0.35966	3.962000	0.56766	1.462000	0.47948	0.655000	0.94253	CGG		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	139	0	0	0	1	0	4	139					A	21229161	G	A	21229161	3	1	102	1	0	0	0	0	1	0	0	0	785	1144	40	1	3128	1	APOB	2	21229161	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		21229161	221970212	3	1783											
RALB	5899	broad.mit.edu	37	2	121050797	121050797	+	Silent	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:121050797G>A	ENST00000272519.5	+	5	852	c.582G>A	c.(580-582)aaG>aaA	p.K194K	RALB_ENST00000474855.2_Silent_p.K216K|RALB_ENST00000404963.3_Silent_p.K215K|RALB_ENST00000420510.1_Silent_p.K194K|RALB_ENST00000470417.1_3'UTR	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	194					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AAAGCAGCAAGAACAAGAAAA	0.423																																						uc010yys.2																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(646-648)aaG>aaA		Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA.							111	109	109					2																	121050797		2203	4300	6503	SO:0001819	synonymous_variant	5899				Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121050797G>A		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"ras related GTP binding protein B"	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.582G>A	2.37:g.121050797G>A			Somatic				RALB_uc002tmk.3_Silent_p.K194K|RALB_uc002tml.3_Silent_p.K215K|RALB_uc010yyt.2_Non-coding_Transcript	p.K216K	NM_002881	NP_002872	WXS	Illumina GAIIx	Phase_I	P11234	RALB_HUMAN			4	691	+		Prostate(154;0.122)	194					B4E040|Q53T32|Q6ZS74	Silent	SNP	ENST00000272519.5	37	c.648G>A	CCDS2131.1																																																																																				0.423	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		5	38	0	0	0	1	0	5	38					A	121050797	G	A	121050797	2	1	102	1	0	0	0	0	0	0	0	1	13011	933	33	2		2	RALB	2	121050797	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	99821636	121050797	122148576	4	1784											
TTLL4	9654	broad.mit.edu	37	2	219603432	219603432	+	Missense_Mutation	SNP	G	G	A	rs138326187	byFrequency	TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr2:219603432G>A	ENST00000392102.1	+	3	1373	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T|TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	345					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			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)		GAAATTGACCGCAAGAGGCTT	0.542																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1033-1035)Gca>Aca		Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.							100	97	98					2																	219603432		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603432G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1033G>A	2.37:g.219603432G>A	ENSP00000375951:p.Ala345Thr		Somatic				TTLL4_uc010zkl.1_Missense_Mutation_p.A180T|TTLL4_uc010fvx.3_Missense_Mutation_p.A345T	p.A345T	NM_014640	NP_055455	WXS	Illumina GAIIx	Phase_I	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)	2	1403	+		Renal(207;0.0915)	345					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1033G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	4.815	0.151619	0.09185	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04970	3.74;3.99;3.52;3.99	4.57	0.74	0.18330	.	0.607687	0.14727	N	0.301996	T	0.03263	0.0095	L	0.29908	0.895	0.09310	N	1	P;B;P	0.44006	0.824;0.016;0.824	B;B;B	0.30646	0.086;0.004;0.118	T	0.43196	-0.9406	10	0.41790	T	0.15	.	4.2768	0.10813	0.3392:0.0:0.5099:0.1509	.	180;345;345	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	T	180;345;345;345	ENSP00000393332:A180T;ENSP00000375951:A345T;ENSP00000396555:A345T;ENSP00000258398:A345T	ENSP00000258398:A345T	A	+	1	0	TTLL4	219311676	0.408000	0.25360	0.177000	0.23020	0.013000	0.08279	1.559000	0.36320	-0.047000	0.13423	-1.114000	0.02060	GCA		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		4	109	0	0	0	1	0	4	109					A	219603432	G	A	219603432	3	1	102	1	0	0	0	0	1	0	0	0	16726	1087	38	1	1035	1	TTLL4	2	219603432	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	98552635	219603432	23595941	5	1785											
KIAA0947	23379	broad.mit.edu	37	5	5463854	5463854	+	Silent	SNP	G	G	A	rs201276348		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:5463854G>A	ENST00000296564.7	+	13	4629	c.4407G>A	c.(4405-4407)aaG>aaA	p.K1469K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1469					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGCTGAGAAGTCCCCAGAGG	0.522																																						uc003jdm.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4405-4407)aaG>aaA		Homo sapiens KIAA0947 (KIAA0947), mRNA.							88	85	86					5																	5463854		1921	4129	6050	SO:0001819	synonymous_variant	23379							g.chr5:5463854G>A																												ENST00000296564.7:c.4407G>A	5.37:g.5463854G>A			Somatic					p.K1469K	NM_015325	NP_056140	WXS	Illumina GAIIx	Phase_I	Q9Y2F5	K0947_HUMAN			12	4629	+			1469					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4407G>A	CCDS47187.1																																																																																				0.522	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			4	112	0	0	0	1	0	4	112					A	5463854	G	A	5463854	2	1	102	1	0	0	0	0	0	0	0	1	8202	1020	36	2		2	KIAA0947	5	5463854	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		5463854	175451406	6	1786											
PTGER4	5734	broad.mit.edu	37	5	40681232	40681232	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr5:40681232G>A	ENST00000302472.3	+	2	1161	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	46					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCAAGTCGCGCAAGGAGCAG	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlz.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(136-138)cGc>cAc		Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.							72	63	66					5																	40681232		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681232G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.137G>A	5.37:g.40681232G>A	ENSP00000302846:p.Arg46His		Somatic	OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895		p.R46H	NM_000958	NP_000949	WXS	Illumina GAIIx	Phase_I	P35408	PE2R4_HUMAN			1	729	+			46					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.137G>A	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603239	0.96614	.	.	ENSG00000171522	ENST00000302472	T	0.19669	2.13	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.61686	-0.7012	10	0.66056	D	0.02	-25.0634	19.1085	0.93307	0.0:0.0:1.0:0.0	.	46	P35408	PE2R4_HUMAN	H	46	ENSP00000302846:R46H	ENSP00000302846:R46H	R	+	2	0	PTGER4	40716989	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.950000	0.87804	2.528000	0.85240	0.462000	0.41574	CGC		0.627	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		4	76	0	0	0	1	0	4	76					A	40681232	G	A	40681232	3	1	102	1	0	0	0	0	1	0	0	0	12745	1087	38	1	139	1	PTGER4	5	40681232	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	35217378	40681232	140234028	7	1787											
FRS3	10817	broad.mit.edu	37	6	41738433	41738433	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:41738433T>C	ENST00000373018.3	-	7	1654	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S	FRS3_ENST00000259748.2_Missense_Mutation_p.N468S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	468					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCTGCAGGTTGGACATGGC	0.637																																						uc003orc.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1402-1404)aAc>aGc		Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.							100	95	97					6																	41738433		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738433T>C	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1403A>G	6.37:g.41738433T>C	ENSP00000362109:p.Asn468Ser		Somatic					p.N468S	NM_006653	NP_006644	WXS	Illumina GAIIx	Phase_I	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	1647	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		468					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1403A>G	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	T	4.880	0.163576	0.09287	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.22743	1.94;1.94	5.55	-0.326	0.12698	.	0.312847	0.42548	N	0.000700	T	0.01765	0.0056	N	0.02539	-0.55	0.37471	D	0.915624	B	0.02656	0.0	B	0.01281	0.0	T	0.35025	-0.9805	10	0.14252	T	0.57	-15.5291	4.7731	0.13166	0.1445:0.3987:0.0:0.4568	.	468	O43559	FRS3_HUMAN	S	468	ENSP00000362109:N468S;ENSP00000259748:N468S	ENSP00000259748:N468S	N	-	2	0	FRS3	41846411	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.369000	0.20416	0.394000	0.25230	0.529000	0.55759	AAC		0.637	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		6	99	0	0	0	1	0	6	99					C	41738433	T	C	41738433	3	2	102	1	0	0	0	0	1	0	0	0	6062	1725	60	3	79	3	FRS3	6	41738433	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08		41738433	129376634	8	1788											
SNX3	8724	broad.mit.edu	37	6	108581972	108581972	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr6:108581972T>C	ENST00000230085.8	-	1	492	c.154A>G	c.(154-156)Agg>Ggg	p.R52G	SNX3_ENST00000426155.2_Missense_Mutation_p.R52G|SNX3_ENST00000368982.4_Missense_Mutation_p.R52G|SNX3_ENST00000349379.5_Intron	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	52	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		ACCTTGACCCTGATTTCGTAA	0.662																																						uc003psh.3																			0				large_intestine(1)	1						c.(154-156)Agg>Ggg		Homo sapiens sorting nexin 3 (SNX3), transcript variant 1, mRNA.							50	56	54					6																	108581972		2203	4300	6503	SO:0001583	missense	8724				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding	g.chr6:108581972T>C	AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"Sorting nexins"	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.154A>G	6.37:g.108581972T>C	ENSP00000230085:p.Arg52Gly		Somatic				SNX3_uc003psi.3_Missense_Mutation_p.R52G|SNX3_uc010kdi.3_Non-coding_Transcript	p.R52G	NM_003795	NP_003786	WXS	Illumina GAIIx	Phase_I	O60493	SNX3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)	0	493	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	52			PX.		A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	37	c.154A>G	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.740230	0.49045	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000368982	T;T;T	0.40756	1.02;1.24;1.02	5.37	2.73	0.32206	Phox homologous domain (5);	0.213426	0.46145	D	0.000301	T	0.55481	0.1923	M	0.93328	3.405	0.53005	D	0.999965	P;B	0.34462	0.454;0.333	B;P	0.48901	0.22;0.594	T	0.64474	-0.6399	10	0.62326	D	0.03	-32.5525	12.6699	0.56862	0.0:0.0:0.4488:0.5512	.	52;52	O60493-2;O60493	.;SNX3_HUMAN	G	52	ENSP00000230085:R52G;ENSP00000401779:R52G;ENSP00000357978:R52G	ENSP00000230085:R52G	R	-	1	2	SNX3	108688665	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.664000	0.46783	0.827000	0.34685	0.459000	0.35465	AGG		0.662	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1			3	56	0	0	0	1	0	3	56					C	108581972	T	C	108581972	3	2	102	1	0	0	0	0	1	0	0	0	14899	1579	55	3	350	3	SNX3	6	108581972	Missense_Mutation	SNP	T	TCGA-DJ-A2QA-01A-11D-A18F-08	66843539	108581972	62533095	9	1789											
SNX13	23161	broad.mit.edu	37	7	17855871	17855872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:17855871_17855872insT	ENST00000409389.1	-	19	2091_2092	c.1919_1920insA	c.(1918-1920)aagfs	p.K640fs	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Frame_Shift_Ins_p.K629fs			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	640	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TATTAAAAGTCTTTTTTCCAGG	0.292																																						uc003stv.3																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1885-1887)aagfs		Homo sapiens sorting nexin 13 (SNX13), mRNA.																																				SO:0001589	frameshift_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17855871_17855872insT	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1920dupA	7.37:g.17855877_17855877dupT	ENSP00000386705:p.Lys640fs		Somatic				SNX13_uc010kuc.3_Frame_Shift_Ins_p.K426fs|SNX13_uc003stw.1_Frame_Shift_Ins_p.K640fs|SNX13_uc010kub.3_Frame_Shift_Ins_p.K35fs	p.K629fs	NM_015132	NP_055947	WXS	Illumina GAIIx	Phase_I	Q9Y5W8	SNX13_HUMAN			18	2099_2100	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		640			PX.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Frame_Shift_Ins	INS	ENST00000409389.1	37	c.1886_1887insA																																																																																					0.292	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		2	4						2	4	---	---	---	---	T	17855872	-	T	17855871	7	5	102	1	0	1	1	0	0	0	0	0	14884	912	32	0	1018	0	SNX13	7	17855871	Frame_Shift_Ins	INS	-	TCGA-DJ-A2QA-01A-11D-A18F-08		17855871	141282792	10	1790											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	56	0	0	0	1	0	22	56					T	140453136	A	T	140453136	3	4	102	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2QA-01A-11D-A18F-08	122597265	140453136	18685527	11	1791											
MLL3	58508	broad.mit.edu	37	7	151864343	151864343	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr7:151864343G>A	ENST00000262189.6	-	42	9856	c.9638C>T	c.(9637-9639)tCa>tTa	p.S3213L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S3213L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3213	Gln-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)										TTGTTTAGCTGAAAGGGCCTT	0.443																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(9637-9639)tCa>tTa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							140	132	135					7																	151864343		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151864343G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9638C>T	7.37:g.151864343G>A	ENSP00000262189:p.Ser3213Leu		Somatic				MLL3_uc003wkz.3_Missense_Mutation_p.S2274L|MLL3_uc003wky.3_Missense_Mutation_p.S722L	p.S3213L	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	41	9857	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3213			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9638C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594193	0.86953	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84800	-1.89;-1.9	5.83	5.83	0.93111	.	0.000000	0.39407	N	0.001378	D	0.87188	0.6115	N	0.14661	0.345	0.80722	D	1	D;P;D	0.89917	0.994;0.773;1.0	D;P;D	0.85130	0.983;0.841;0.997	D	0.88386	0.3005	10	0.52906	T	0.07	.	20.115	0.97926	0.0:0.0:1.0:0.0	.	3213;2274;3213	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	L	3213	ENSP00000262189:S3213L;ENSP00000347325:S3213L	ENSP00000262189:S3213L	S	-	2	0	MLL3	151495276	1.000000	0.71417	0.992000	0.48379	0.918000	0.54935	9.813000	0.99286	2.761000	0.94854	0.650000	0.86243	TCA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			36	97	0	0	0	1	0	36	97					A	151864343	G	A	151864343	3	1	102	1	0	0	0	0	1	0	0	0	9622	1294	45	2	5169	2	MLL3	7	151864343	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	11411207	151864343	7274320	12	1792											
RAB3IP	117177	broad.mit.edu	37	12	70149196	70149196	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr12:70149196A>G	ENST00000247833.7	+	2	384	c.8A>G	c.(7-9)aAt>aGt	p.N3S	RAB3IP_ENST00000483530.2_Missense_Mutation_p.N3S|RAB3IP_ENST00000550536.1_Missense_Mutation_p.N19S|RAB3IP_ENST00000378815.6_Missense_Mutation_p.N3S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.N19S|RAB3IP_ENST00000325555.9_5'UTR					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTATGGCTAATGATCCCTTG	0.353																																						uc001svp.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(55-57)aAt>aGt		Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.							97	88	91					12																	70149196		2203	4300	6503	SO:0001583	missense	117177				Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149196A>G		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.8A>G	12.37:g.70149196A>G	ENSP00000247833:p.Asn3Ser		Somatic				RAB3IP_uc021rao.1_Missense_Mutation_p.N3S|RAB3IP_uc001svm.3_Missense_Mutation_p.N3S|RAB3IP_uc001svn.3_Missense_Mutation_p.N3S|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.N19S|RAB3IP_uc001svs.3_Non-coding_Transcript	p.N19S	NM_175623	NP_001019818	WXS	Illumina GAIIx	Phase_I	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		1	503	+	Esophageal squamous(21;0.187)		19						Missense_Mutation	SNP	ENST00000247833.7	37	c.56A>G	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480955	0.26598	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.41400	1.02;1.0	5.93	4.79	0.61399	.	0.296133	0.40064	N	0.001187	T	0.19805	0.0476	N	0.08118	0	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.06899	-1.0801	10	0.13470	T	0.59	.	7.8778	0.29603	0.7694:0.0:0.2306:0.0	.	19;19;3;3	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	S	3;3;3;3;19;19	ENSP00000247833:N3S;ENSP00000447300:N19S	ENSP00000247833:N3S	N	+	2	0	RAB3IP	68435463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.418000	0.52721	1.077000	0.40990	0.533000	0.62120	AAT		0.353	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		3	66	0	0	0	1	0	3	66					G	70149196	A	G	70149196	3	3	102	1	0	0	0	0	1	0	0	0	12938	101	4	3	62	3	RAB3IP	12	70149196	Missense_Mutation	SNP	A	TCGA-DJ-A2QA-01A-11D-A18F-08		70149196	63702699	13	1793											
PDS5B	23047	broad.mit.edu	37	13	33315257	33315257	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr13:33315257G>A	ENST00000315596.10	+	22	2632	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	816					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)		GGTTCCAGATGAAGAAGTATC	0.289																																						uc010abf.3																			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.(2446-2448)Gaa>Aaa		Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.							101	93	96					13																	33315257		1807	4062	5869	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.chr13:33315257G>A	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2446G>A	13.37:g.33315257G>A	ENSP00000313851:p.Glu816Lys		Somatic				PDS5B_uc010abg.3_Non-coding_Transcript	p.E816K	NM_015032	NP_055847	WXS	Illumina GAIIx	Phase_I	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)	21	2632	+		Lung SC(185;0.0367)	816					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.2446G>A	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914279	0.92178	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.092724	0.85682	D	0.000000	T	0.54062	0.1835	L	0.38175	1.15	0.80722	D	1	P	0.37663	0.604	B	0.40066	0.318	T	0.51044	-0.8755	9	0.37606	T	0.19	-5.0161	19.0003	0.92830	0.0:0.0:1.0:0.0	.	816	Q9NTI5	PDS5B_HUMAN	K	816	.	ENSP00000313851:E816K	E	+	1	0	PDS5B	32213257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.095000	0.94175	2.735000	0.93741	0.655000	0.94253	GAA		0.289	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		21	61	0	0	0	1	0	21	61					A	33315257	G	A	33315257	3	1	102	1	0	0	0	0	1	0	0	0	11692	1291	45	2	2528	2	PDS5B	13	33315257	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		33315257	81854621	14	1794											
ITGB3	3690	broad.mit.edu	37	17	45367119	45367119	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:45367119G>A	ENST00000559488.1	+	7	1028	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ITGB3_ENST00000435993.2_Missense_Mutation_p.E291K|ITGB3_ENST00000571680.1_Missense_Mutation_p.E338K|ITGB3_ENST00000560629.1_Silent_p.*326*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	338	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TGCAGTGACTGAAAATGTAGT	0.483																																						uc002ilj.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1012-1014)Gaa>Aaa		Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	Abciximab(DB00054)|Tirofiban(DB00775)						143	126	132					17																	45367119		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45367119G>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1012G>A	17.37:g.45367119G>A	ENSP00000452786:p.Glu338Lys		Somatic				ITGB3_uc002ili.1_Missense_Mutation_p.E338K|ITGB3_uc010wkr.1_Non-coding_Transcript	p.E338K	NM_000212	NP_000203	WXS	Illumina GAIIx	Phase_I	P05106	ITB3_HUMAN			6	1032	+			338			VWFA.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1012G>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629045	0.14257	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.97620	-4.46	5.3	-0.849	0.10723	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.516425	0.23556	N	0.046908	D	0.87601	0.6218	N	0.08118	0	0.22489	N	0.999052	B;B	0.28128	0.081;0.201	B;B	0.25884	0.04;0.064	T	0.80933	-0.1161	10	0.10902	T	0.67	.	5.4575	0.16598	0.3529:0.365:0.282:0.0	.	338;338	P05106;Q2YFE1	ITB3_HUMAN;.	K	338;291	ENSP00000407801:E291K	ENSP00000262017:E338K	E	+	1	0	C17orf57	42722118	0.003000	0.15002	0.998000	0.56505	0.996000	0.88848	0.543000	0.23237	0.208000	0.20626	0.462000	0.41574	GAA		0.483	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		21	35	0	0	0	1	0	21	35					A	45367119	G	A	45367119	3	1	102	1	0	0	0	0	1	0	0	0	7895	1291	45	2	1038	2	ITGB3	17	45367119	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08		45367119	35828091	15	1795											
MKS1	54903	broad.mit.edu	37	17	56283864	56283864	+	Silent	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr17:56283864G>A	ENST00000393119.2	-	16	1526	c.1452C>T	c.(1450-1452)ggC>ggT	p.G484G	MKS1_ENST00000313863.6_Intron|MKS1_ENST00000337050.7_Splice_Site_p.A470V|MKS1_ENST00000546108.1_Silent_p.G281G|MKS1_ENST00000537529.2_Silent_p.G474G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	484					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTGACAGTGCCTGTGGTCT	0.617																																						uc002ivr.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1450-1452)ggC>ggT		Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.							91	101	97					17																	56283864		2137	4249	6386	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56283864G>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1452C>T	17.37:g.56283864G>A			Somatic				MKS1_uc010wnq.2_Silent_p.G281G|MKS1_uc021uam.1_Silent_p.G474G	p.G484G	NM_017777	NP_060247	WXS	Illumina GAIIx	Phase_I	Q9NXB0	MKS1_HUMAN			15	1527	-			484					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.1452C>T	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415337	0.42817	.	.	ENSG00000011143	ENST00000337050	T	0.69561	-0.41	5.22	-2.17	0.07059	.	.	.	.	.	T	0.62146	0.2404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59804	-0.7385	6	0.66056	D	0.02	-32.7994	2.022	0.03511	0.3395:0.3439:0.2039:0.1126	.	.	.	.	V	470	ENSP00000338407:A470V	ENSP00000338407:A470V	A	-	2	0	MKS1	53638863	0.993000	0.37304	0.232000	0.24009	0.787000	0.44495	0.256000	0.18351	-0.521000	0.06426	-0.219000	0.12488	GCA		0.617	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		4	71	0	0	0	1	0	4	71					A	56283864	G	A	56283864	2	1	102	1	0	0	0	0	0	0	0	1	9609	1306	46	2		2	MKS1	17	56283864	Silent	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	10916745	56283864	24911346	16	1796											
DNASE2	1777	broad.mit.edu	37	19	12989328	12989328	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:12989328C>T	ENST00000222219.3	-	5	669	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.E138K	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	193					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						TCGGGGAATTCCTGGGCAAAG	0.557																																						uc002mvn.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(577-579)Gaa>Aaa		Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.							104	100	101					19																	12989328		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding	g.chr19:12989328C>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.577G>A	19.37:g.12989328C>T	ENSP00000222219:p.Glu193Lys		Somatic				DNASE2_uc010xmr.1_Missense_Mutation_p.E138K	p.E193K	NM_001375	NP_001366	WXS	Illumina GAIIx	Phase_I	O00115	DNS2A_HUMAN			4	723	-			193					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.577G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	2.025	-0.423723	0.04734	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	T;T	0.13307	2.6;2.6	5.49	1.94	0.25998	.	0.817875	0.11465	N	0.561378	T	0.04227	0.0117	N	0.03948	-0.315	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.44003	-0.9356	10	0.06757	T	0.87	.	3.224	0.06725	0.0:0.3466:0.2261:0.4273	.	138;193	B7Z4K6;O00115	.;DNS2A_HUMAN	K	193;138	ENSP00000222219:E193K;ENSP00000445988:E138K	ENSP00000222219:E193K	E	-	1	0	DNASE2	12850328	0.997000	0.39634	0.043000	0.18650	0.144000	0.21451	1.859000	0.39418	0.372000	0.24591	-0.471000	0.05019	GAA		0.557	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			13	39	0	0	0	1	0	13	39					T	12989328	C	T	12989328	3	4	102	1	0	0	0	0	1	0	0	0	4664	864	30	2	513	2	DNASE2	19	12989328	Missense_Mutation	SNP	C	TCGA-DJ-A2QA-01A-11D-A18F-08		12989328	46139655	17	1797											
ISOC2	79763	broad.mit.edu	37	19	55966378	55966378	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chr19:55966378G>A	ENST00000425675.2	-	5	575	c.515C>T	c.(514-516)gCc>gTc	p.A172V	ISOC2_ENST00000085068.3_Missense_Mutation_p.A188V|ISOC2_ENST00000438389.2_Missense_Mutation_p.A102V			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	172					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGGGTGGACGGCATCGCCCAC	0.622											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qla.3																			0				endometrium(1)|lung(4)|ovary(1)|stomach(1)	7						c.(562-564)gCc>gTc		Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							45	46	46					19																	55966378		2203	4300	6503	SO:0001583	missense	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55966378G>A	AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.515C>T	19.37:g.55966378G>A	ENSP00000401726:p.Ala172Val		Somatic	OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1011	ISOC2_uc002qlb.3_Missense_Mutation_p.A172V|ISOC2_uc002qlc.3_Missense_Mutation_p.A102V	p.A188V	NM_024710	NP_078986	WXS	Illumina GAIIx	Phase_I	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	4	737	-	Breast(117;0.155)		172					Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	c.563C>T	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352378	0.61293	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	3.88	3.88	0.44766	Isochorismatase-like (2);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.54323	1.7	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.991;0.975	D;P;P	0.69142	0.962;0.884;0.848	T	0.73313	-0.4022	9	0.72032	D	0.01	-7.9387	13.7376	0.62827	0.0:0.0:1.0:0.0	.	102;172;188	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	V	188;172;102	.	ENSP00000085068:A188V	A	-	2	0	ISOC2	60658190	1.000000	0.71417	0.810000	0.32431	0.070000	0.16714	8.272000	0.89885	1.891000	0.54761	0.491000	0.48974	GCC		0.622	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		3	47	0	0	0	1	0	3	47					A	55966378	G	A	55966378	3	1	102	1	0	0	0	0	1	0	0	0	7863	1203	42	2	110	2	ISOC2	19	55966378	Missense_Mutation	SNP	G	TCGA-DJ-A2QA-01A-11D-A18F-08	42977050	55966378	3162605	18	1798											
FUNDC1	139341	broad.mit.edu	37	X	44402059	44402059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A2QA-01A-11D-A18F-08	TCGA-DJ-A2QA-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f8d67e6-5d90-447a-a421-2420df6fc47b	ab7884d1-54c7-49cd-86c9-93a0c0af8884	g.chrX:44402059delG	ENST00000378045.4	-	1	188	c.20delC	c.(19-21)cctfs	p.P8fs	FUNDC1_ENST00000483115.1_5'Flank	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	8					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ACCTTGGGGAGGGGGGTTCCG	0.657																																						uc004dgc.3																			0				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(19-21)cctfs		Homo sapiens FUN14 domain containing 1 (FUNDC1), mRNA.							16	15	15					X																	44402059		2148	4199	6347	SO:0001589	frameshift_variant	139341							g.chrX:44402059delG	BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.20delC	X.37:g.44402059delG	ENSP00000367284:p.Pro8fs		Somatic					p.P7fs	NM_173794	NP_776155	WXS	Illumina GAIIx	Phase_I	Q8IVP5	FUND1_HUMAN			0	163	-			7						Frame_Shift_Del	DEL	ENST00000378045.4	37	c.20delC	CCDS14263.1																																																																																				0.657	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056320.1	NM_173794		2	4						2	4	---	---	---	---	-	44402059	G	-	44402059	7	5	102	1	0	1	0	1	0	0	0	0	6097	1000	35	0	467	0	FUNDC1	23	44402059	Frame_Shift_Del	DEL	G	TCGA-DJ-A2QA-01A-11D-A18F-08		44402059	110868501	19	1799											
CDKN2C	1031	broad.mit.edu	37	1	51439634	51439634	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr1:51439634G>A	ENST00000262662.1	+	4	2233	c.199G>A	c.(199-201)Gac>Aac	p.D67N	CDKN2C_ENST00000371761.3_Missense_Mutation_p.D67N|CDKN2C_ENST00000396148.1_Missense_Mutation_p.D67N			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	67					cell cycle arrest (GO:0007050)|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 phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGATTTGAAAGACCGAACTGG	0.448			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.3				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(199-201)Gac>Aac		Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.							101	99	100					1																	51439634		2203	4300	6503	SO:0001583	missense	1031				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439634G>A	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.199G>A	1.37:g.51439634G>A	ENSP00000262662:p.Asp67Asn		Somatic				CDKN2C_uc001csg.3_Missense_Mutation_p.D67N	p.D67N	NM_001262	NP_523240	WXS	Illumina GAIIx	Phase_I	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	2	2174	+			67					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.199G>A	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209373	0.95069	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.69926	-0.44;-0.44;-0.44	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81068	-0.1100	10	0.39692	T	0.17	-12.264	19.1686	0.93567	0.0:0.0:1.0:0.0	.	67	P42773	CDN2C_HUMAN	N	67	ENSP00000262662:D67N;ENSP00000379452:D67N;ENSP00000360826:D67N	ENSP00000262662:D67N	D	+	1	0	CDKN2C	51212222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.547000	0.73892	2.770000	0.95276	0.655000	0.94253	GAC		0.448	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		30	50	0	0	0	1	0	30	50					A	51439634	G	A	51439634	3	1	103	1	0	0	0	0	1	0	0	0	3165	942	33	2	205	2	CDKN2C	1	51439634	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		51439634	197810987	1	1800											
DSTYK	25778	broad.mit.edu	37	1	205128809	205128809	+	Splice_Site	SNP	T	T	G			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr1:205128809T>G	ENST00000367162.3	-	9	2136		c.e9-2		DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Splice_Site	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase						cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGCAGAGACCTGGAGGGAAGG	0.498																																						uc001hbw.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.e9-1		Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.							81	72	75					1																	205128809		2203	4300	6503	SO:0001630	splice_region_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205128809T>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2106-2A>C	1.37:g.205128809T>G			Somatic				DSTYK_uc001hbx.3_Splice_Site_p.R702_splice	p.R702_splice	NM_015375	NP_056190	WXS	Illumina GAIIx	Phase_I	Q6XUX3	DUSTY_HUMAN			9	2170	-			702			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Splice_Site	SNP	ENST00000367162.3	37	c.2106_splice	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648726	0.87958	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0558	0.80805	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSTYK	203395432	1.000000	0.71417	0.987000	0.45799	0.895000	0.52256	7.886000	0.87288	2.281000	0.76405	0.533000	0.62120	.		0.498	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375	Intron	8	22	0	0	0	1	0	8	22					G	205128809	T	G	205128809	5	3	103	1	0	0	0	0	0	0	1	0	4785	1594	55	5	705	5	DSTYK	1	205128809	Splice_Site	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08	153689175	205128809	44121812	2	1801											
PCDHB9	57717	broad.mit.edu	37	5	140568536	140568536	+	IGR	SNP	G	G	C	rs199912805	byFrequency	TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr5:140568536G>C	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						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)			GCTGGTGCGCGTACTGGTGCT	0.711													G|||	3	0.000599042	0	0.0014	5008	,	,		17591	0		0.002	False		,,,				2504	0					uc003liw.1																			0											c.(1642-1644)Gta>Cta		Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.		G	LEU/VAL	2,4404	4.2+/-10.8	0,2,2201	35	42	39		1644	2.2	0.5	5		39	17,8575	11.2+/-40.8	0,17,4279	no	missense	PCDHB9	NM_019119.3	32	0,19,6480	CC,CG,GG		0.1979,0.0454,0.1462	possibly-damaging	549/798	140568536	19,12979	2203	4296	6499	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568536G>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568536G>C			Somatic					p.V548L	NM_019119	NP_061992	WXS	Illumina GAIIx	Phase_I	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1642	+			549			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1642G>C	CCDS4251.1																																																																																				0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	54	0	0	0	1	0	5	54					C	140568536	G	C	140568536	1	2	103	0	1	0	0	0	0	0	0	0	11549	1132	40	4		4	PCDHB9	5	140568536	IGR	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		140568536	40346724	3	1802											
LARS	51520	broad.mit.edu	37	5	145524092	145524092	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr5:145524092T>C	ENST00000394434.2	-	17	1764	c.1598A>G	c.(1597-1599)gAt>gGt	p.D533G	LARS_ENST00000545646.1_Missense_Mutation_p.D487G|LARS_ENST00000510191.1_Missense_Mutation_p.D479G|LARS_ENST00000274562.9_Missense_Mutation_p.D506G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	533					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCTCCATAATCCAAGTACCT	0.388																																						uc003lnx.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1597-1599)gAt>gGt		Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	L-Leucine(DB00149)						137	131	133					5																	145524092		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145524092T>C	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1598A>G	5.37:g.145524092T>C	ENSP00000377954:p.Asp533Gly		Somatic				LARS_uc011dbq.1_Missense_Mutation_p.D487G|LARS_uc011dbr.1_Missense_Mutation_p.D479G|LARS_uc011dbs.1_Missense_Mutation_p.D506G	p.D533G	NM_020117	NP_064502	WXS	Illumina GAIIx	Phase_I	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1836	-			533					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1598A>G	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.627780	0.66901	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.39	5.39	0.77823	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	H	0.94503	3.545	0.80722	D	1	P;D;D	0.63046	0.943;0.961;0.992	P;P;D	0.66497	0.759;0.756;0.944	D	0.93124	0.6527	10	0.66056	D	0.02	-7.7044	15.7091	0.77609	0.0:0.0:0.0:1.0	.	506;487;533	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	G	533;487;479;506	ENSP00000377954:D533G;ENSP00000437791:D487G;ENSP00000426005:D479G;ENSP00000274562:D506G	ENSP00000274562:D506G	D	-	2	0	LARS	145504285	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.619000	0.67729	2.181000	0.69327	0.459000	0.35465	GAT		0.388	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		30	56	0	0	0	1	0	30	56					C	145524092	T	C	145524092	3	2	103	1	0	0	0	0	1	0	0	0	8634	1435	50	3	1996	3	LARS	5	145524092	Missense_Mutation	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08	4955556	145524092	35391168	4	1803											
TRPV5	56302	broad.mit.edu	37	7	142606711	142606711	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr7:142606711G>A	ENST00000265310.1	-	14	2188	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	614					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCGGAGCGAGGCCACAGGCAG	0.592																																						uc003wby.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1840-1842)Cct>Tct		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							78	68	72					7																	142606711		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606711G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1840C>T	7.37:g.142606711G>A	ENSP00000265310:p.Pro614Ser		Somatic					p.P614S	NM_019841	NP_062815	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			13	2104	-	Melanoma(164;0.059)		614					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1840C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613793	0.87359	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.79554	-1.26;-1.28	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	M	0.82716	2.605	0.80722	D	1	P	0.45212	0.853	B	0.39027	0.288	T	0.81957	-0.0695	10	0.27785	T	0.31	-18.4533	17.3777	0.87397	0.0:0.0:1.0:0.0	.	614	Q9NQA5	TRPV5_HUMAN	S	614;559	ENSP00000265310:P614S;ENSP00000406361:P559S	ENSP00000265310:P614S	P	-	1	0	TRPV5	142316833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.131000	0.71670	2.672000	0.90937	0.655000	0.94253	CCT		0.592	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	30	0	0	0	1	0	10	30					A	142606711	G	A	142606711	3	1	103	1	0	0	0	0	1	0	0	0	16596	1203	42	2	357	2	TRPV5	7	142606711	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		142606711	16531952	5	1804											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		15	42	0	0	0	1	0	15	42					C	533874	T	C	533874	3	2	103	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08		533874	134472642	6	1805											
CD163L1	283316	broad.mit.edu	37	12	7520684	7520684	+	Splice_Site	SNP	T	T	A			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr12:7520684T>A	ENST00000313599.3	-	17	4239	c.4182A>T	c.(4180-4182)agA>agT	p.R1394S	CD163L1_ENST00000416109.2_Splice_Site_p.R1404S|CD163L1_ENST00000396630.1_Splice_Site_p.R1394S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1394						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGCTCTCACCTCTGAGGGGCA	0.463																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.e17+1		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							91	85	87					12																	7520684		2203	4300	6503	SO:0001630	splice_region_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7520684T>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4183+1A>T	12.37:g.7520684T>A			Somatic				CD163L1_uc001qsy.3_Splice_Site_p.V1395_splice	p.V1405_splice	NM_174941	NP_777601	WXS	Illumina GAIIx	Phase_I	Q9NR16	C163B_HUMAN			17	4239	-			1395					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Splice_Site	SNP	ENST00000313599.3	37	c.4213_splice	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.38|11.38	1.620778|1.620778	0.28889|0.28889	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.01430|.	4.9;4.9;5.18|.	1.2|1.2	1.2|1.2	0.21068|0.21068	.|.	.|.	.|.	.|.	.|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D;B|.	0.60575|.	0.988;0.073|.	P;B|.	0.57204|.	0.815;0.014|.	T|T	0.23726|0.23726	-1.0180|-1.0180	9|5	0.12430|.	T|.	0.62|.	.|.	4.5727|4.5727	0.12217|0.12217	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1404;1394|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	S|C	1394;1404;1394|50	ENSP00000315945:R1394S;ENSP00000393474:R1404S;ENSP00000379871:R1394S|.	ENSP00000315945:R1394S|.	R|S	-|-	3|1	2|0	CD163L1|CD163L1	7411951|7411951	0.069000|0.069000	0.21087|0.21087	0.016000|0.016000	0.15963|0.15963	0.243000|0.243000	0.25628|0.25628	1.564000|1.564000	0.36375|0.36375	0.793000|0.793000	0.33875|0.33875	0.383000|0.383000	0.25322|0.25322	AGA|AGT		0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	Missense_Mutation	17	45	0	0	0	1	0	17	45					A	7520684	T	A	7520684	5	1	103	1	0	0	0	0	0	0	1	0	2968	1565	54	5	191	5	CD163L1	12	7520684	Splice_Site	SNP	T	TCGA-DJ-A2QB-01A-11D-A19J-08		7520684	126331211	7	1806											
DUOX2	50506	broad.mit.edu	37	15	45399037	45399037	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr15:45399037delA	ENST00000603300.1	-	15	2026	c.1824delT	c.(1822-1824)cttfs	p.L608fs	DUOX2_ENST00000389039.6_Frame_Shift_Del_p.L608fs	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	608					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACCTAAGGGAAGGCAGCAGA	0.582																																						uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1822-1824)cttfs		Homo sapiens dual oxidase 2 (DUOX2), mRNA.							44	44	44					15																	45399037		2198	4295	6493	SO:0001589	frameshift_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	g.chr15:45399037delA	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1824delT	15.37:g.45399037delA	ENSP00000475084:p.Leu608fs		Somatic				DUOX2_uc010bea.3_Frame_Shift_Del_p.L608fs	p.L608fs	NM_014080	NP_054799	WXS	Illumina GAIIx	Phase_I	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	14	2027	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	608					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Frame_Shift_Del	DEL	ENST00000603300.1	37	c.1824delT	CCDS10117.1																																																																																				0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		2	4						2	4	---	---	---	---	-	45399037	A	-	45399037	7	5	103	1	0	1	0	1	0	0	0	0	4801	233	9	0	2902	0	DUOX2	15	45399037	Frame_Shift_Del	DEL	A	TCGA-DJ-A2QB-01A-11D-A19J-08		45399037	57132355	8	1807											
PLXNB2	23654	broad.mit.edu	37	22	50727260	50727260	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2QB-01A-11D-A19J-08	TCGA-DJ-A2QB-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1584fb00-5b1c-4b75-89d8-e9504b8bc989	5e27ef92-19e3-430a-991b-53b55c88baaf	g.chr22:50727260G>C	ENST00000449103.1	-	5	1432	c.1292C>G	c.(1291-1293)tCt>tGt	p.S431C	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.S431C			O15031	PLXB2_HUMAN	plexin B2	431	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAAGGATAGAGTCGTACTC	0.612																																						uc003bkv.4																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(1291-1293)tCt>tGt		Homo sapiens plexin B2 (PLXNB2), mRNA.							70	73	72					22																	50727260		2141	4226	6367	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50727260G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1292C>G	22.37:g.50727260G>C	ENSP00000409171:p.Ser431Cys		Somatic					p.S431C	NM_012401	NP_036533	WXS	Illumina GAIIx	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	1385	-		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)	431			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.1292C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895566	0.52121	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.11169	2.8;2.8;2.8	4.19	4.19	0.49359	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.017930	0.07856	N	0.965506	T	0.30510	0.0767	M	0.76838	2.35	0.40147	D	0.976904	D	0.53312	0.959	P	0.55545	0.778	T	0.02512	-1.1148	10	0.42905	T	0.14	.	14.1858	0.65605	0.0:0.0:1.0:0.0	.	431	O15031	PLXB2_HUMAN	C	431	ENSP00000409171:S431C;ENSP00000352288:S431C;ENSP00000392620:S431C	ENSP00000352288:S431C	S	-	2	0	PLXNB2	49069387	1.000000	0.71417	0.827000	0.32855	0.056000	0.15407	5.937000	0.70162	2.327000	0.79052	0.561000	0.74099	TCT		0.612	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	7	0	0	0	1	0	4	7					C	50727260	G	C	50727260	3	2	103	1	0	0	0	0	1	0	0	0	12124	942	33	4	4356	4	PLXNB2	22	50727260	Missense_Mutation	SNP	G	TCGA-DJ-A2QB-01A-11D-A19J-08		50727260	577306	9	1808											
NRD1	4898	broad.mit.edu	37	1	52260235	52260235	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:52260235T>C	ENST00000354831.7	-	26	3077	c.2888A>G	c.(2887-2889)cAg>cGg	p.Q963R	NRD1_ENST00000352171.7_Missense_Mutation_p.Q895R|NRD1_ENST00000539524.1_Missense_Mutation_p.Q831R|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	894					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTCTACCACCTGGAACTGCAC	0.493																																						uc001ctc.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2887-2889)cAg>cGg		Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.							249	252	251					1																	52260235		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260235T>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2888A>G	1.37:g.52260235T>C	ENSP00000346890:p.Gln963Arg		Somatic				NRD1_uc009vzb.3_Missense_Mutation_p.Q658R|NRD1_uc001cte.3_Missense_Mutation_p.Q831R|NRD1_uc001ctd.4_Missense_Mutation_p.Q895R|NRD1_uc001ctf.2_Missense_Mutation_p.Q895R|NRD1_uc010ong.1_Non-coding_Transcript	p.Q963R	NM_002525	NP_001229290	WXS	Illumina GAIIx	Phase_I	O43847	NRDC_HUMAN			25	3210	-			894					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2888A>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	6.898	0.535254	0.13188	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	T;T;T	0.07216	3.21;3.21;3.21	5.53	4.39	0.52855	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.176229	0.49916	D	0.000135	T	0.01454	0.0047	N	0.00182	-1.905	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.41787	-0.9489	10	0.02654	T	1	-6.0178	6.3355	0.21294	0.0:0.1527:0.0:0.8473	.	895;894;963	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	R	895;963;831;325;895	ENSP00000262679:Q895R;ENSP00000346890:Q963R;ENSP00000444416:Q831R	ENSP00000262679:Q895R	Q	-	2	0	NRD1	52032823	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.678000	0.54627	2.324000	0.78689	0.533000	0.62120	CAG		0.493	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		4	311	0	0	0	1	0	4	311					C	52260235	T	C	52260235	3	2	104	1	0	0	0	0	1	0	0	0	10645	1580	55	3	803	3	NRD1	1	52260235	Missense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08		52260235	196990386	1	1809											
NSL1	25936	broad.mit.edu	37	1	212964938	212964938	+	Silent	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:212964938G>A	ENST00000366977.3	-	1	186	c.168C>T	c.(166-168)ttC>ttT	p.F56F	TATDN3_ENST00000366973.4_5'Flank|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000366975.6_Silent_p.F56F|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000532324.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000526997.1_5'Flank|NSL1_ENST00000422588.2_Silent_p.F56F|NSL1_ENST00000366976.1_Silent_p.F56F|NSL1_ENST00000473995.1_5'UTR|TATDN3_ENST00000531963.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	56					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTTGCACGAAGCGGCCGC	0.617																																						uc001hjn.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(166-168)ttC>ttT		Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.							94	104	100					1																	212964938		2202	4299	6501	SO:0001819	synonymous_variant	25936				cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding	g.chr1:212964938G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"chromosome 1 open reading frame 48", "NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.168C>T	1.37:g.212964938G>A			Somatic				NSL1_uc001hjm.3_Silent_p.F56F|NSL1_uc010pti.2_Silent_p.F56F|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	p.F56F	NM_015471	NP_056286	WXS	Illumina GAIIx	Phase_I	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	0	202	-			56					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Silent	SNP	ENST00000366977.3	37	c.168C>T	CCDS1509.1																																																																																				0.617	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		14	197	0	0	0	1	0	14	197					A	212964938	G	A	212964938	2	1	104	1	0	0	0	0	0	0	0	1	10673	1049	37	1		1	NSL1	1	212964938	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08	160704703	212964938	36285683	2	1810											
SOS1	6654	broad.mit.edu	37	2	39250247	39250247	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr2:39250247C>T	ENST00000426016.1	-	11	1408	c.1322G>A	c.(1321-1323)tGt>tAt	p.C441Y	SOS1_ENST00000402219.2_Missense_Mutation_p.C441Y|SOS1_ENST00000395038.2_Missense_Mutation_p.C441Y|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	441			C -> Y (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATTCATTACAACACTGTCC	0.363									Noonan syndrome																													uc002rrk.4																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75	GRCh37	CM070286	SOS1	M		c.(1321-1323)tGt>tAt		Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.							120	110	113					2																	39250247		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr2:39250247C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1322G>A	2.37:g.39250247C>T	ENSP00000387784:p.Cys441Tyr		Somatic				SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.C55Y|SOS1_uc002rrl.3_Missense_Mutation_p.C173Y	p.C441Y	NM_005633	NP_005624	WXS	Illumina GAIIx	Phase_I	Q07889	SOS1_HUMAN			9	1363	-		all_hematologic(82;0.21)	441		C -> Y (in NS4).			A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1322G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962232	0.74016	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.86865	-2.18;-2.18;-2.18	5.52	5.52	0.82312	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.987	D	0.93924	0.7208	10	0.87932	D	0	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	173;441	F5GX06;Q07889	.;SOS1_HUMAN	Y	441;441;173;441;441	ENSP00000387784:C441Y;ENSP00000384675:C441Y;ENSP00000378479:C441Y	ENSP00000263879:C441Y	C	-	2	0	SOS1	39103751	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.666000	0.83877	2.753000	0.94483	0.557000	0.71058	TGT		0.363	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	112	0	0	0	1	0	4	112					T	39250247	C	T	39250247	3	4	104	1	0	0	0	0	1	0	0	0	14936	478	17	2	2735	2	SOS1	2	39250247	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		39250247	203949126	3	1811											
SLC6A19	340024	broad.mit.edu	37	5	1219168	1219168	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr5:1219168C>T	ENST00000304460.10	+	9	1380	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	442					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)			CGTCGTTGTGCCCCTGCAGGA	0.592																																						uc003jbw.4																			0				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						c.(1324-1326)Ccc>Tcc		Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.							267	214	232					5																	1219168		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219168C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1324C>T	5.37:g.1219168C>T	ENSP00000305302:p.Pro442Ser		Somatic					p.P442S	NM_001003841	NP_001003841	WXS	Illumina GAIIx	Phase_I	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1380	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		442					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1324C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846948	0.71603	.	.	ENSG00000174358	ENST00000304460	T	0.73897	-0.79	4.55	4.55	0.56014	.	0.160921	0.56097	D	0.000023	T	0.81508	0.4837	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80346	-0.1421	10	0.33940	T	0.23	.	17.2798	0.87125	0.0:1.0:0.0:0.0	.	442	Q695T7	S6A19_HUMAN	S	442	ENSP00000305302:P442S	ENSP00000305302:P442S	P	+	1	0	SLC6A19	1272168	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	7.557000	0.82243	2.081000	0.62600	0.491000	0.48974	CCC		0.592	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	32	0	0	0	1	0	3	32					T	1219168	C	T	1219168	3	4	104	1	0	0	0	0	1	0	0	0	14682	739	26	2	1358	2	SLC6A19	5	1219168	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		1219168	179696092	4	1812											
C2	717	broad.mit.edu	37	6	31901656	31901656	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr6:31901656A>C	ENST00000299367.5	+	5	905	c.629A>C	c.(628-630)tAt>tCt	p.Y210S	CFB_ENST00000556679.1_Missense_Mutation_p.Y148S|CFB_ENST00000456570.1_Missense_Mutation_p.Y148S|C2_ENST00000452323.2_Missense_Mutation_p.Y87S|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.Y210S|C2_ENST00000442278.2_Missense_Mutation_p.Y78S	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	210					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCCTACTCTTATGACTTCCCT	0.627																																						uc011dor.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(442-444)tAt>tCt		Homo sapiens complement factor B (CFB), mRNA.							67	65	66					6																	31901656		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901656A>C		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.629A>C	6.37:g.31901656A>C	ENSP00000299367:p.Tyr210Ser		Somatic				CFB_uc003nyc.2_Missense_Mutation_p.M42L|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Missense_Mutation_p.Y87S|CFB_uc003nye.4_Missense_Mutation_p.Y210S|CFB_uc003nyf.3_Missense_Mutation_p.Y210S|CFB_uc010jtk.3_Missense_Mutation_p.Y78S|CFB_uc011doq.2_Missense_Mutation_p.Y181S	p.Y148S	NM_001710	NP_001701	WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			3	707	+			224			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.443A>C	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.467545|2.467545	0.43839|0.43839	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000497706;ENST00000432397;ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	D|T;T;T;T;T;T;T;T;T	0.88509|0.77750	-2.39|-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.88|5.88	3.38|3.38	0.38709|0.38709	.|.	.|0.000000	.|0.35708	.|N	.|0.003040	T|T	0.78585|0.78585	0.4306|0.4306	M|M	0.78801|0.78801	2.425|2.425	0.27409|0.27409	N|N	0.954629|0.954629	B|D;P;D;P;P;P;D	0.02656|0.89917	0.0|0.998;0.855;0.996;0.855;0.855;0.886;1.0	B|P;B;P;B;B;P;D	0.04013|0.75020	0.001|0.878;0.393;0.794;0.393;0.393;0.735;0.985	T|T	0.71441|0.71441	-0.4592|-0.4592	8|10	.|0.87932	.|D	.|0	-19.5373|-19.5373	4.6929|4.6929	0.12790|0.12790	0.7456:0.0:0.0878:0.1665|0.7456:0.0:0.0878:0.1665	.|.	42|148;181;87;78;78;210;210	E9PDZ0|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.|.;.;.;.;.;CO2_HUMAN;.	L|S	42;42;75|87;87;210;78;148;210;69;148;148	ENSP00000417482:M42L|ENSP00000392322:Y87S;ENSP00000406121:Y87S;ENSP00000299367:Y210S;ENSP00000395683:Y78S;ENSP00000391354:Y148S;ENSP00000406190:Y210S;ENSP00000419048:Y69S;ENSP00000451848:Y148S;ENSP00000410815:Y148S	.|ENSP00000299367:Y210S	M|Y	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32009635|32009635	0.103000|0.103000	0.21917|0.21917	0.511000|0.511000	0.27724|0.27724	0.960000|0.960000	0.62799|0.62799	1.532000|1.532000	0.36029|0.36029	1.058000|1.058000	0.40530|0.40530	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.627	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			24	27	0	0	0	1	0	24	27					C	31901656	A	C	31901656	3	2	104	1	0	0	0	0	1	0	0	0	2074	449	16	5	724	5	C2	6	31901656	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08		31901656	139213411	5	1813											
SLC12A9	56996	broad.mit.edu	37	7	100454533	100454533	+	Silent	SNP	C	C	T	rs570239035		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:100454533C>T	ENST00000354161.3	+	5	617	c.492C>T	c.(490-492)taC>taT	p.Y164Y	SLC12A9_ENST00000540482.1_Silent_p.Y164Y|SLC12A9_ENST00000415287.1_Silent_p.Y75Y|SLC12A9_ENST00000275729.3_Silent_p.Y75Y|SLC12A9_ENST00000428758.1_Silent_p.Y164Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	164					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)					CCCAGGGCTACGGCTGGAACC	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		15135	0		0	False		,,,				2504	0					uc003uwp.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(490-492)taC>taT		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.							52	54	54					7																	100454533		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100454533C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"Solute carriers"	17435	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.492C>T	7.37:g.100454533C>T			Somatic				SLC12A9_uc003uwo.1_Silent_p.Y75Y|SLC12A9_uc003uwq.3_Silent_p.Y75Y|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	p.Y164Y	NM_020246	NP_064631	WXS	Illumina GAIIx	Phase_I	Q9BXP2	S12A9_HUMAN			4	634	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		164					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.492C>T	CCDS5707.1																																																																																				0.662	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		24	49	0	0	0	1	0	24	49					T	100454533	C	T	100454533	2	4	104	1	0	0	0	0	0	0	0	1	14390	547	19	1		1	SLC12A9	7	100454533	Silent	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		100454533	58684130	6	1814											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	40	0	0	0	1	0	19	40					T	140453136	A	T	140453136	3	4	104	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08	39998603	140453136	18685527	7	1815											
DOCK5	80005	broad.mit.edu	37	8	25253084	25253084	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25253084C>T	ENST00000276440.7	+	45	4597	c.4553C>T	c.(4552-4554)gCc>gTc	p.A1518V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1518	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTGGAGAATGCCATCGAAACC	0.512																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4552-4554)gCc>gTc		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							147	132	137					8																	25253084		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25253084C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4553C>T	8.37:g.25253084C>T	ENSP00000276440:p.Ala1518Val		Somatic				DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Missense_Mutation_p.A1088V|DOCK5_uc003xej.3_Non-coding_Transcript	p.A1518V	NM_024940	NP_079216	WXS	Illumina GAIIx	Phase_I	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	44	4690	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1518			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4553C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930204	0.92389	.	.	ENSG00000147459	ENST00000276440	T	0.35421	1.31	6.03	5.15	0.70609	.	0.055467	0.64402	N	0.000001	T	0.71256	0.3318	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81320	-0.0986	10	0.87932	D	0	.	15.0523	0.71885	0.0:0.9326:0.0:0.0674	.	1508;1518	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	V	1518	ENSP00000276440:A1518V	ENSP00000276440:A1518V	A	+	2	0	DOCK5	25309001	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.788000	0.85771	1.562000	0.49601	0.655000	0.94253	GCC		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		4	95	0	0	0	1	0	4	95					T	25253084	C	T	25253084	3	4	104	1	0	0	0	0	1	0	0	0	4690	739	26	2	4731	2	DOCK5	8	25253084	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		25253084	121110938	8	1816											
CDCA2	157313	broad.mit.edu	37	8	25340935	25340935	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25340935T>G	ENST00000330560.3	+	9	1530	c.1053T>G	c.(1051-1053)taT>taG	p.Y351*	CDCA2_ENST00000380665.3_Nonsense_Mutation_p.Y336*|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	351					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACAACCTCTATGATGATGATG	0.328																																						uc003xep.1																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1051-1053)taT>taG		Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.							89	85	86					8																	25340935		2203	4300	6503	SO:0001587	stop_gained	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25340935T>G	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 81"					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1053T>G	8.37:g.25340935T>G	ENSP00000328228:p.Tyr351*		Somatic				DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Nonsense_Mutation_p.Y351*|CDCA2_uc003xeq.1_Nonsense_Mutation_p.Y336*|CDCA2_uc003xer.1_Nonsense_Mutation_p.Y14*	p.Y351*	NM_152562	NP_689775	WXS	Illumina GAIIx	Phase_I	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	8	1530	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	351					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Nonsense_Mutation	SNP	ENST00000330560.3	37	c.1053T>G	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913956	0.92178	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	.	.	.	5.1	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.3474	7.0779	0.25215	0.0:0.1858:0.0:0.8142	.	.	.	.	X	351;336	.	ENSP00000328228:Y351X	Y	+	3	2	CDCA2	25396852	0.446000	0.25665	0.002000	0.10522	0.008000	0.06430	1.655000	0.37345	0.468000	0.27243	0.477000	0.44152	TAT		0.328	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		4	46	0	0	0	1	0	4	46					G	25340935	T	G	25340935	4	3	104	1	0	0	0	0	0	1	0	0	3086	1471	51	5	1083	5	CDCA2	8	25340935	Nonsense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08	87851	25340935	121023087	9	1817											
ZNF251	90987	broad.mit.edu	37	8	145948217	145948217	+	Silent	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:145948217G>A	ENST00000292562.7	-	5	1103	c.828C>T	c.(826-828)ctC>ctT	p.L276L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	276					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)		GGTGAGAATTGAGTCCAAAAG	0.438																																						uc003zdv.4																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(826-828)ctC>ctT		Homo sapiens zinc finger protein 251 (ZNF251), mRNA.							82	87	85					8																	145948217		2086	4244	6330	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948217G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.828C>T	8.37:g.145948217G>A			Somatic					p.L276L	NM_138367	NP_612376	WXS	Illumina GAIIx	Phase_I	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)	4	1084	-	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)		276					Q2M219	Silent	SNP	ENST00000292562.7	37	c.828C>T	CCDS47944.1																																																																																				0.438	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		6	61	0	0	0	1	0	6	61					A	145948217	G	A	145948217	2	1	104	1	0	0	0	0	0	0	0	1	17793	1277	45	2		2	ZNF251	8	145948217	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08	120607282	145948217	415805	10	1818											
CDNF	51182	broad.mit.edu	37	10	14879853	14879853	+	5'Flank	DEL	C	C	-	rs534303352		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:14879853delC	ENST00000378372.3	+	0	0				CDNF_ENST00000378441.2_5'UTR|HSPA14_ENST00000437161.2_5'Flank|CDNF_ENST00000378442.1_Intron	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CCCCTGGCCGCCCCCCGGCCT	0.701																																						uc001inb.1																			0				breast(2)|large_intestine(2)|lung(1)	5						c.(91-93)gggfs		Homo sapiens cerebral dopamine neurotrophic factor (CDNF), mRNA.							10	15	13					10																	14879853		2182	4281	6463	SO:0001631	upstream_gene_variant	441549					extracellular region	growth factor activity	g.chr10:14879853delC	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712		10.37:g.14879853delC	Exception_encountered		Somatic				CDNF_uc010qbv.1_Frame_Shift_Del_p.G31fs|CDNF_uc001inc.1_Intron|HSPA14_uc001ind.3_5'Flank|HSPA14_uc001ine.3_5'Flank|HSPA14_uc010qbw.2_5'Flank|HSPA14_uc001inf.3_5'Flank	p.G31fs	NM_001029954	NP_001025125	WXS	Illumina GAIIx	Phase_I	Q49AH0	CDNF_HUMAN			0	131	-			31					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Frame_Shift_Del	DEL	ENST00000378372.3	37	c.93delG	CCDS7103.1																																																																																				0.701	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		2	4						2	4	---	---	---	---	-	14879853	C	-	14879853	6	5	104	0	1	1	0	1	0	0	0	0	3168	726	26	0		0	CDNF	10	14879853	5'Flank	DEL	C	TCGA-DJ-A2QC-01A-11D-A18F-08		14879853	120654894	11	1819											
SEC31B	25956	broad.mit.edu	37	10	102267770	102267770	+	Silent	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000370329.5_Silent_p.R181R|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000451524.1_Silent_p.R178R|SEC31B_ENST00000535773.1_Silent_p.R21R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517																																						uc001krc.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(532-534)cgG>cgA		Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.							191	164	173					10																	102267770		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane		g.chr10:102267770C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.534G>A	10.37:g.102267770C>T			Somatic				SEC31B_uc010qpo.1_Silent_p.R177R|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Silent_p.R181R|SEC31B_uc009xwn.1_Silent_p.R178R|SEC31B_uc009xwo.1_Silent_p.R178R|SEC31B_uc010qpq.1_Silent_p.R21R|SEC31B_uc010qpr.1_Non-coding_Transcript	p.R178R	NM_015490	NP_056305	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	5	636	-		Colorectal(252;0.117)	178					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.534G>A	CCDS7495.1																																																																																				0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		4	123	0	0	0	1	0	4	123					T	102267770	C	T	102267770	2	4	104	1	0	0	0	0	0	0	0	1	13999	726	26	2		2	SEC31B	10	102267770	Silent	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08	87387917	102267770	33266977	12	1820											
KCNK18	338567	broad.mit.edu	37	10	118969513	118969513	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:118969513T>G	ENST00000334549.1	+	3	858	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	286					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCCCCATCATTGCCCTTATTG	0.502																																						uc010qsr.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(856-858)atT>atG		Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.							236	200	212					10																	118969513		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969513T>G	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.858T>G	10.37:g.118969513T>G	ENSP00000334650:p.Ile286Met		Somatic					p.I286M	NM_181840	NP_862823	WXS	Illumina GAIIx	Phase_I	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	2	858	+		Colorectal(252;0.19)	286					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.858T>G	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	T	5.797	0.331417	0.10956	.	.	ENSG00000186795	ENST00000334549	D	0.96136	-3.92	5.4	-7.44	0.01379	.	0.101991	0.64402	D	0.000003	D	0.89171	0.6639	L	0.38175	1.15	0.27554	N	0.950419	B	0.14012	0.009	B	0.29176	0.099	T	0.75875	-0.3163	10	0.40728	T	0.16	.	7.702	0.28627	0.082:0.1148:0.1067:0.6965	.	286	Q7Z418	KCNKI_HUMAN	M	286	ENSP00000334650:I286M	ENSP00000334650:I286M	I	+	3	3	KCNK18	118959503	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	-0.214000	0.09292	-1.528000	0.01756	-0.250000	0.11733	ATT		0.502	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		12	129	0	0	0	1	0	12	129					G	118969513	T	G	118969513	3	3	104	1	0	0	0	0	1	0	0	0	8065	1800	63	5	868	5	KCNK18	10	118969513	Missense_Mutation	SNP	T	TCGA-DJ-A2QC-01A-11D-A18F-08	16701743	118969513	16565234	13	1821											
OR6Q1	219952	broad.mit.edu	37	11	57798858	57798858	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr11:57798858G>A	ENST00000302622.3	+	1	457	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGGGCACCTGCATCCGTCTG	0.517																																						uc010rjz.2																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(433-435)tGc>tAc		Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.							133	123	126					11																	57798858		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798858G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.434G>A	11.37:g.57798858G>A	ENSP00000307734:p.Cys145Tyr		Somatic				OR9Q1_uc001nmj.3_Intron	p.C145Y	NM_001005186	NP_001005186	WXS	Illumina GAIIx	Phase_I	Q8NGQ2	OR6Q1_HUMAN			0	434	+		Breast(21;0.0707)|all_epithelial(135;0.142)	145					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.434G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601961	0.66445	.	.	ENSG00000172381	ENST00000302622	T	0.00237	8.47	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000781	T	0.00637	0.0021	M	0.85710	2.77	0.44417	D	0.997335	D	0.59357	0.985	D	0.66602	0.945	T	0.75852	-0.3171	10	0.62326	D	0.03	.	17.1737	0.86836	0.0:0.0:1.0:0.0	.	145	Q8NGQ2	OR6Q1_HUMAN	Y	145	ENSP00000307734:C145Y	ENSP00000307734:C145Y	C	+	2	0	OR6Q1	57555434	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.957000	0.63652	2.340000	0.79590	0.643000	0.83706	TGC		0.517	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		4	87	0	0	0	1	0	4	87					A	57798858	G	A	57798858	3	1	104	1	0	0	0	0	1	0	0	0	11208	1319	46	2	436	2	OR6Q1	11	57798858	Missense_Mutation	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		57798858	77207658	14	1822											
OR4K2	390431	broad.mit.edu	37	14	20345045	20345045	+	Missense_Mutation	SNP	G	G	T	rs145713695		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr14:20345045G>T	ENST00000298642.2	+	1	655	c.619G>T	c.(619-621)Gcg>Tcg	p.A207S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						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(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCATAATTGCGTTGTCCTG	0.403																																						uc001vwh.1																			0		p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(619-621)Gcg>Tcg		Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.							314	314	314					14																	20345045		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345045G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.619G>T	14.37:g.20345045G>T	ENSP00000298642:p.Ala207Ser		Somatic					p.A207S	NM_001005501	NP_001005501	WXS	Illumina GAIIx	Phase_I	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	619	+	all_cancers(95;0.00108)		207					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.619G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.390733	0.01185	.	.	ENSG00000165762	ENST00000298642	T	0.36878	1.23	5.0	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.22513	0.0543	N	0.21097	0.63	0.27743	N	0.944408	B	0.20671	0.047	B	0.31946	0.138	T	0.23154	-1.0196	10	0.02654	T	1	.	10.7154	0.46008	0.0:0.0:0.6854:0.3146	.	207	Q8NGD2	OR4K2_HUMAN	S	207	ENSP00000298642:A207S	ENSP00000298642:A207S	A	+	1	0	OR4K2	19414885	0.000000	0.05858	0.994000	0.49952	0.280000	0.26924	0.083000	0.14871	2.596000	0.87737	0.467000	0.42956	GCG		0.403	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			11	354	0	0	0	1	0	11	354					T	20345045	G	T	20345045	3	4	104	1	0	0	0	0	1	0	0	0	11072	1319	46	4	621	4	OR4K2	14	20345045	Missense_Mutation	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		20345045	87004495	15	1823											
ANKRD11	29123	broad.mit.edu	37	16	89352008	89352008	+	Silent	SNP	G	G	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr16:89352008G>C	ENST00000301030.4	-	9	1402	c.942C>G	c.(940-942)gtC>gtG	p.V314V	ANKRD11_ENST00000378330.2_Silent_p.V314V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	314					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTTGCCGTCGACTGAACTGG	0.572																																						uc002fmx.1																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(940-942)gtC>gtG		Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.							163	135	144					16																	89352008		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89352008G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.942C>G	16.37:g.89352008G>C			Somatic				ANKRD11_uc002fmy.1_Silent_p.V314V|ANKRD11_uc002fnc.1_Silent_p.V314V|ANKRD11_uc002fnb.1_Silent_p.V271V	p.V314V	NM_013275	NP_037407	WXS	Illumina GAIIx	Phase_I	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	1403	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	314					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.942C>G	CCDS32513.1																																																																																				0.572	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	105	0	0	0	1	0	6	105					C	89352008	G	C	89352008	2	2	104	1	0	0	0	0	0	0	0	1	639	1045	37	4		4	ANKRD11	16	89352008	Silent	SNP	G	TCGA-DJ-A2QC-01A-11D-A18F-08		89352008	1002745	16	1824											
BRIP1	83990	broad.mit.edu	37	17	59861733	59861734	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr17:59861733_59861734CC>AA	ENST00000259008.2	-	11	1792_1793	c.1525_1526GG>TT	c.(1525-1527)GGt>TTt	p.G509F	BRIP1_ENST00000577598.1_Missense_Mutation_p.G509F	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	509					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCCTCTTTACCATAAATTGGT	0.347			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														uc002izk.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1525-1527)ggt>TTt	Involved in tolerance or repair of DNA crosslinks	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.																																				SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59861733_59861734CC>AA	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1525_1526delinsAA	17.37:g.59861733_59861734delinsAA	ENSP00000259008:p.Gly509Phe		Somatic					p.G509F	NM_032043	NP_114432	WXS	Illumina GAIIx	Phase_I	Q9BX63	FANCJ_HUMAN			10	1831_1832	-			509					Q3MJE2|Q8NCI5	Missense_Mutation	DNP	ENST00000259008.2	37	c.1525_1526GG>TT	CCDS11631.1																																																																																				0.347	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		6	202	0	0	0	1	0	6	202					AA	59861734	CC	AA	59861733	3	1	104	1	0	0	0	0	1	0	0	0	1514	507	18	4	2263	4	BRIP1	17	59861733	Missense_Mutation	DNP	CC	TCGA-DJ-A2QC-01A-11D-A18F-08		59861733	21333477	17	1825											
NANOS3	342977	broad.mit.edu	37	19	13991282	13991282	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr19:13991282C>T	ENST00000397555.2	+	3	487	c.487C>T	c.(487-489)Cct>Tct	p.P163S	NANOS3_ENST00000339133.5_Missense_Mutation_p.P182S|NANOS3_ENST00000591727.1_3'UTR	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	163					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAGTCTGAGCCTTCGCCCTC	0.607											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxj.4																			0				breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(544-546)Cct>Tct		Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.							94	100	98					19																	13991282		2052	4190	6242	SO:0001583	missense	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13991282C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.487C>T	19.37:g.13991282C>T	ENSP00000380687:p.Pro163Ser		Somatic	OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691		p.P182S	NM_001098622	NP_001092092	WXS	Illumina GAIIx	Phase_I	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		1	544	+			163					Q495E5	Missense_Mutation	SNP	ENST00000397555.2	37	c.544C>T		.	.	.	.	.	.	.	.	.	.	C	10.18	1.279323	0.23307	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.49139	0.79;0.87	3.74	-0.881	0.10607	.	3.253730	0.01451	N	0.015480	T	0.24661	0.0598	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.05699	-1.0869	9	0.15066	T	0.55	-5.9766	0.9202	0.01313	0.1983:0.4203:0.167:0.2144	.	182	P60323-2	.	S	182;163	ENSP00000341992:P182S;ENSP00000380687:P163S	ENSP00000341992:P182S	P	+	1	0	NANOS3	13852282	0.019000	0.18553	0.001000	0.08648	0.004000	0.04260	-0.282000	0.08445	-0.046000	0.13446	-0.224000	0.12420	CCT		0.607	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		5	67	0	0	0	1	0	5	67					T	13991282	C	T	13991282	3	4	104	1	0	0	0	0	1	0	0	0	10153	739	26	2	550	2	NANOS3	19	13991282	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		13991282	45137701	18	1826											
YPEL1	29799	broad.mit.edu	37	22	22055423	22055423	+	Missense_Mutation	SNP	C	C	T	rs374724181		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:22055423C>T	ENST00000339468.3	-	5	738	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	119						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GCACATTACTCCCAGCCATTG	0.408																																						uc002zvl.3																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(355-357)Gag>Aag		Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA.							138	117	124					22																	22055423		2203	4300	6503	SO:0001583	missense	29799					nucleus		g.chr22:22055423C>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"yippee (Drosophila) homolog-like 1"			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.355G>A	22.37:g.22055423C>T	ENSP00000342832:p.Glu119Lys		Somatic				YPEL1_uc002zvm.3_Non-coding_Transcript	p.E119K	NM_013313	NP_037445	WXS	Illumina GAIIx	Phase_I	O60688	YPEL1_HUMAN			4	687	-	Colorectal(54;0.105)		119					Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	c.355G>A	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320460	0.81469	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.45352	1.415	0.80722	D	1	B	0.32717	0.381	B	0.23419	0.046	T	0.58289	-0.7662	9	0.72032	D	0.01	.	18.0829	0.89447	0.0:1.0:0.0:0.0	.	119	O60688	YPEL1_HUMAN	K	119	.	ENSP00000342832:E119K	E	-	1	0	YPEL1	20385423	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.799000	0.69101	2.684000	0.91462	0.650000	0.86243	GAG		0.408	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		3	30	0	0	0	1	0	3	30					T	22055423	C	T	22055423	3	4	104	1	0	0	0	0	1	0	0	0	17486	864	30	2	8	2	YPEL1	22	22055423	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08		22055423	29249143	19	1827											
APOL6	80830	broad.mit.edu	37	22	36055153	36055153	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:36055153C>T	ENST00000409652.4	+	3	818	c.542C>T	c.(541-543)gCc>gTc	p.A181V		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	181					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TTGAAGTATGCCAAGAAAAAC	0.498																																						uc003aoe.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(541-543)gCc>gTc		Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.							67	70	69					22																	36055153		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055153C>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"Apolipoproteins"	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.542C>T	22.37:g.36055153C>T	ENSP00000386280:p.Ala181Val		Somatic				APOL6_uc003aod.3_Non-coding_Transcript	p.A181V	NM_030641	NP_085144	WXS	Illumina GAIIx	Phase_I	Q9BWW8	APOL6_HUMAN			2	836	+			181					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.542C>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	C	6.067	0.380716	0.11466	.	.	ENSG00000221963	ENST00000409652	T	0.03181	4.02	4.21	2.06	0.26882	.	1.264280	0.05701	N	0.593991	T	0.03178	0.0093	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48747	-0.9008	10	0.20046	T	0.44	-26.4403	6.2498	0.20839	0.0:0.2207:0.0:0.7793	.	181	Q9BWW8	APOL6_HUMAN	V	181	ENSP00000386280:A181V	ENSP00000386280:A181V	A	+	2	0	APOL6	34385099	0.056000	0.20664	0.000000	0.03702	0.002000	0.02628	1.790000	0.38734	0.284000	0.22305	-0.302000	0.09304	GCC		0.498	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		4	80	0	0	0	1	0	4	80					T	36055153	C	T	36055153	3	4	104	1	0	0	0	0	1	0	0	0	810	739	26	2	548	2	APOL6	22	36055153	Missense_Mutation	SNP	C	TCGA-DJ-A2QC-01A-11D-A18F-08	13999730	36055153	15249413	20	1828											
MTM1	4534	broad.mit.edu	37	X	149832053	149832053	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chrX:149832053A>G	ENST00000370396.2	+	14	1669	c.1615A>G	c.(1615-1617)Att>Gtt	p.I539V	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.I424V|MTM1_ENST00000413012.2_Missense_Mutation_p.I502V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	539					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTACTACATTAGATGGAA	0.363																																						uc004fef.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1615-1617)Att>Gtt		Homo sapiens myotubularin 1 (MTM1), mRNA.							88	76	80					X																	149832053		2203	4299	6502	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832053A>G	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1615A>G	X.37:g.149832053A>G	ENSP00000359423:p.Ile539Val		Somatic				MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.I502V|MTM1_uc011mxz.2_Missense_Mutation_p.I424V|MTM1_uc010nte.3_Missense_Mutation_p.I407V	p.I539V	NM_000252	NP_000243	WXS	Illumina GAIIx	Phase_I	Q13496	MTM1_HUMAN			13	1691	+	Acute lymphoblastic leukemia(192;6.56e-05)		539					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1615A>G	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503342	0.26949	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.90004	-2.6;-2.6;-2.6	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.49513	1.565	0.48135	D	0.999592	B;B	0.14438	0.01;0.002	B;B	0.16289	0.015;0.006	T	0.80120	-0.1515	10	0.15499	T	0.54	.	14.4648	0.67477	1.0:0.0:0.0:0.0	.	502;539	B7Z491;Q13496	.;MTM1_HUMAN	V	539;424;502	ENSP00000359423:I539V;ENSP00000439784:I424V;ENSP00000389157:I502V	ENSP00000359423:I539V	I	+	1	0	MTM1	149582711	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	7.119000	0.77145	1.795000	0.52594	0.417000	0.27973	ATT		0.363	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	120	0	0	0	1	0	4	120					G	149832053	A	G	149832053	3	3	104	1	0	0	0	0	1	0	0	0	9937	217	8	3	1665	3	MTM1	23	149832053	Missense_Mutation	SNP	A	TCGA-DJ-A2QC-01A-11D-A18F-08		149832053	5438507	21	1829											
BRE	9577	broad.mit.edu	37	2	28152748	28152748	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr2:28152748A>T	ENST00000342045.2	+	4	319	c.178A>T	c.(178-180)Ata>Tta	p.I60L	BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379632.2_Missense_Mutation_p.I60L|BRE_ENST00000344773.2_Missense_Mutation_p.I60L|BRE_ENST00000379624.1_Missense_Mutation_p.I60L|BRE_ENST00000361704.2_Missense_Mutation_p.I60L	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TAAACTGCACATACCATATGC	0.343																																						uc002rls.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(178-180)Ata>Tta		Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.							92	88	89					2																	28152748		2203	4300	6503	SO:0001583	missense	9577				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28152748A>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.178A>T	2.37:g.28152748A>T	ENSP00000339371:p.Ile60Leu		Somatic				BRE_uc002rlp.1_Missense_Mutation_p.I60L|BRE_uc002rlq.3_Missense_Mutation_p.I60L|BRE_uc002rlr.3_Missense_Mutation_p.I60L|BRE_uc002rlt.3_Missense_Mutation_p.I60L|BRE_uc002rlu.3_Missense_Mutation_p.I60L|BRE_uc002rlv.3_5'UTR	p.I60L	NM_004899	NP_004890	WXS	Illumina GAIIx	Phase_I	Q9NXR7	BRE_HUMAN			2	430	+	Acute lymphoblastic leukemia(172;0.155)		60			UEV-like 1.			Missense_Mutation	SNP	ENST00000342045.2	37	c.178A>T	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352849	0.82132	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	T	0.51574	0.7	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	L	0.48642	1.525	0.58432	D	0.999991	P;B;B;P	0.38863	0.65;0.241;0.202;0.65	P;B;B;P	0.54140	0.743;0.117;0.071;0.658	T	0.55179	-0.8181	10	0.41790	T	0.15	-17.2749	12.5917	0.56447	1.0:0.0:0.0:0.0	.	60;60;60;60	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	L	60	ENSP00000368950:I60L	ENSP00000339371:I60L	I	+	1	0	BRE	28006252	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.169000	0.77578	2.017000	0.59298	0.533000	0.62120	ATA		0.343	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			3	81	0	0	0	1	0	3	81					T	28152748	A	T	28152748	3	4	105	1	0	0	0	0	1	0	0	0	1509	217	8	5	184	5	BRE	2	28152748	Missense_Mutation	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		28152748	215046625	1	1830											
ABI3BP	25890	broad.mit.edu	37	3	100473513	100473513	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:100473513T>G	ENST00000284322.5	-	31	2849	c.2740A>C	c.(2740-2742)Aaa>Caa	p.K914Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.K868Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.K1616Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	914	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGCGGGTTTTTGGGTTTCACC	0.413																																						uc003dun.3																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2740-2742)Aaa>Caa		Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.							81	73	75					3																	100473513		1844	4094	5938	SO:0001583	missense	25890					extracellular space		g.chr3:100473513T>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2740A>C	3.37:g.100473513T>G	ENSP00000284322:p.Lys914Gln		Somatic				ABI3BP_uc003duj.3_Missense_Mutation_p.K494Q|ABI3BP_uc003duk.3_Missense_Mutation_p.K623Q|ABI3BP_uc003dul.3_Missense_Mutation_p.K744Q|ABI3BP_uc011bhd.2_Missense_Mutation_p.K868Q|ABI3BP_uc003dum.3_Missense_Mutation_p.K325Q	p.K914Q	NM_015429	NP_056244	WXS	Illumina GAIIx	Phase_I	Q7Z7G0	TARSH_HUMAN			30	2825	-			914			Fibronectin type-III 2.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.2740A>C	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.733795	0.69189	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.56275	0.47;0.47;0.47	5.68	5.68	0.88126	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.207410	0.49916	D	0.000128	T	0.67468	0.2896	M	0.76328	2.33	0.46798	D	0.999207	P;B;D;D	0.61697	0.873;0.058;0.99;0.973	P;B;P;P	0.56751	0.663;0.139;0.805;0.787	T	0.67979	-0.5530	10	0.37606	T	0.19	-13.8888	15.9179	0.79535	0.0:0.0:0.0:1.0	.	868;914;1616;623	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	Q	1616;914;623;325;868	ENSP00000420524:K1616Q;ENSP00000284322:K914Q;ENSP00000373189:K868Q	ENSP00000284322:K914Q	K	-	1	0	ABI3BP	101956203	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.738000	0.68613	2.157000	0.67596	0.455000	0.32223	AAA		0.413	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			2	11	0	0	0	1	0	2	11					G	100473513	T	G	100473513	3	3	105	1	0	0	0	0	1	0	0	0	91	1821	63	5	507	5	ABI3BP	3	100473513	Missense_Mutation	SNP	T	TCGA-DJ-A3UK-01A-11D-A22D-08		100473513	97548917	2	1831											
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr3:113505224T>C	ENST00000273398.3	+	6	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						uc003eao.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)cTt>cCt		Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.							219	201	207					3																	113505224		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224T>C	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710T>C	3.37:g.113505224T>C	ENSP00000273398:p.Leu237Pro		Somatic				ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	p.L237P	NM_001690	NP_001681	WXS	Illumina GAIIx	Phase_I	P38606	VATA_HUMAN			5	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.710T>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972517	0.74246	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.84223	-1.82;-1.82	5.33	4.17	0.49024	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.94260	0.7501	10	0.87932	D	0	-16.1423	10.9912	0.47551	0.0:0.0737:0.0:0.9263	.	237	P38606	VATA_HUMAN	P	237;204	ENSP00000273398:L237P;ENSP00000439874:L204P	ENSP00000273398:L237P	L	+	2	0	ATP6V1A	114987914	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.484000	0.81180	0.873000	0.35799	-0.353000	0.07706	CTT		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		4	255	0	0	0	1	0	4	255					C	113505224	T	C	113505224	3	2	105	1	0	0	0	0	1	0	0	0	1177	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-DJ-A3UK-01A-11D-A22D-08	13031711	113505224	84517206	3	1832											
LDB2	9079	broad.mit.edu	37	4	16900067	16900067	+	Silent	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:16900067G>A	ENST00000304523.5	-	1	365	c.42C>T	c.(40-42)ttC>ttT	p.F14F	LDB2_ENST00000515064.1_Silent_p.F14F|LDB2_ENST00000441778.2_Silent_p.F14F|LDB2_ENST00000502640.1_Silent_p.F14F	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	14					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAATGGGCCGAAAGGAGAAG	0.458																																						uc003goz.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(40-42)ttC>ttT		Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.							196	173	181					4																	16900067		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16900067G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.42C>T	4.37:g.16900067G>A			Somatic				LDB2_uc003gpa.3_Silent_p.F14F|LDB2_uc011bxh.2_Silent_p.F14F|LDB2_uc003gpb.3_Silent_p.F14F|LDB2_uc010iee.3_Silent_p.F14F	p.F14F	NM_001290	NP_001281	WXS	Illumina GAIIx	Phase_I	O43679	LDB2_HUMAN			0	358	-			14					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.42C>T	CCDS3420.1																																																																																				0.458	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			3	79	0	0	0	1	0	3	79					A	16900067	G	A	16900067	2	1	105	1	0	0	0	0	0	0	0	1	8696	1049	37	1		1	LDB2	4	16900067	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		16900067	174254209	4	1833											
KIAA1211	57482	broad.mit.edu	37	4	57182522	57182522	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:57182522G>A	ENST00000504228.1	+	6	2959	c.2854G>A	c.(2854-2856)Gca>Aca	p.A952T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A945T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A952T			Q6ZU35	K1211_HUMAN	KIAA1211	952	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGACAAGGCAGCAAACAAAAT	0.632																																						uc003hbk.2																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2854-2856)Gca>Aca		Homo sapiens KIAA1211 (KIAA1211), mRNA.							46	56	53					4																	57182522		2084	4210	6294	SO:0001583	missense	57482							g.chr4:57182522G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2854G>A	4.37:g.57182522G>A	ENSP00000423366:p.Ala952Thr		Somatic				KIAA1211_uc010iha.2_Missense_Mutation_p.A945T|KIAA1211_uc011bzz.1_Missense_Mutation_p.A862T|KIAA1211_uc003hbm.1_Missense_Mutation_p.A838T	p.A952T	NM_020722	NP_065773	WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			7	3245	+	Glioma(25;0.08)|all_neural(26;0.101)		952			Pro-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2854G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	9.111	1.006633	0.19199	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.12774	2.66;2.66;2.65	4.74	3.9	0.45041	.	.	.	.	.	T	0.16128	0.0388	L	0.54323	1.7	0.09310	N	1	B;B;B	0.19073	0.033;0.013;0.013	B;B;B	0.15484	0.013;0.013;0.013	T	0.11131	-1.0600	9	0.45353	T	0.12	-7.1922	13.2293	0.59933	0.0771:0.0:0.9229:0.0	.	945;945;952	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	T	952;952;945	ENSP00000264229:A952T;ENSP00000423366:A952T;ENSP00000444006:A945T	ENSP00000264229:A952T	A	+	1	0	KIAA1211	56877279	0.159000	0.22864	0.035000	0.18076	0.203000	0.24098	2.569000	0.45973	1.215000	0.43411	-0.448000	0.05591	GCA		0.632	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	63	0	0	0	1	0	3	63					A	57182522	G	A	57182522	3	1	105	1	0	0	0	0	1	0	0	0	8215	971	34	2	2872	2	KIAA1211	4	57182522	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	40282455	57182522	133971754	5	1834											
NAA11	84779	broad.mit.edu	37	4	80246702	80246702	+	Silent	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr4:80246702G>A	ENST00000286794.4	-	1	502	c.330C>T	c.(328-330)caC>caT	p.H110H	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	110	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTTCCTGACGTGCAGAGACA	0.522																																						uc003hlt.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(328-330)caC>caT		Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.							58	62	61					4																	80246702		2093	4241	6334	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246702G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.330C>T	4.37:g.80246702G>A			Somatic				NAA11_uc021xpl.1_Silent_p.H110H	p.H110H	NM_032693	NP_116082	WXS	Illumina GAIIx	Phase_I	Q9BSU3	NAA11_HUMAN			0	470	-			110			N-acetyltransferase.		Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.330C>T	CCDS47084.1																																																																																				0.522	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			17	46	0	0	0	1	0	17	46					A	80246702	G	A	80246702	2	1	105	1	0	0	0	0	0	0	0	1	10117	1136	40	1		1	NAA11	4	80246702	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	23064180	80246702	110907574	6	1835											
PHACTR1	221692	broad.mit.edu	37	6	13283734	13283734	+	Silent	SNP	C	C	T	rs376680831		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:13283734C>T	ENST00000379335.3	+	3	387	c.282C>T	c.(280-282)gaC>gaT	p.D94D	RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000332995.7_Silent_p.D530D|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000457702.2_Silent_p.D385D|PHACTR1_ENST00000379329.1_Silent_p.D94D			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	530					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGTGGCTGACGCTCAGGACT	0.597																																						uc003nah.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1588-1590)gaC>gaT		Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.		C	,,	0,4168		0,0,2084	105	119	114		1590,,1590	-2.4	0.9	6		114	1,8415		0,1,4207	no	coding-synonymous,intron,coding-synonymous	PHACTR1,LOC100130357	NM_001242648.1,NM_001242698.1,NM_030948.2	,,	0,1,6291	TT,TC,CC		0.0119,0.0,0.0079	,,	530/581,,530/581	13283734	1,12583	2084	4208	6292	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13283734C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.282C>T	6.37:g.13283734C>T			Somatic				PHACTR1_uc010jpc.3_Silent_p.D530D|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron|LOC100130357_uc003nak.1_Intron	p.D530D	NM_030948	NP_112210	WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		12	1963	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	530					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379335.3	37	c.1590C>T		.	.	.	.	.	.	.	.	.	.	C	10.70	1.423086	0.25639	0.0	1.19E-4	ENSG00000112137	ENST00000415087	.	.	.	5.9	-2.39	0.06602	.	.	.	.	.	T	0.49423	0.1556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56050	-0.8043	4	.	.	.	-20.7442	12.7679	0.57403	0.0:0.5098:0.0:0.4902	.	.	.	.	M	365	.	.	T	+	2	0	PHACTR1	13391713	0.000000	0.05858	0.857000	0.33713	0.994000	0.84299	-1.970000	0.01504	-0.426000	0.07360	0.655000	0.94253	ACG		0.597	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420		9	210	0	0	0	1	0	9	210					T	13283734	C	T	13283734	2	4	105	1	0	0	0	0	0	0	0	1	11809	535	19	1		1	PHACTR1	6	13283734	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08		13283734	157831333	7	1836											
LAMA2	3908	broad.mit.edu	37	6	129649469	129649469	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr6:129649469G>A	ENST00000421865.2	+	29	4272	c.4223G>A	c.(4222-4224)cGc>cAc	p.R1408H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1408	Laminin EGF-like 14; second part. {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)	p.R1408H(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGGTGGCCGCACCCCTGGA	0.502																																						uc021zfb.1																			1	Substitution - Missense(1)	p.R1408H(2)	endometrium(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4222-4224)cGc>cAc		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							128	112	117					6																	129649469		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.chr6:129649469G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4223G>A	6.37:g.129649469G>A	ENSP00000400365:p.Arg1408His		Somatic				LAMA2_uc003qbn.3_Missense_Mutation_p.R1408H|LAMA2_uc003qbo.3_Missense_Mutation_p.R1408H	p.R1408H	NM_000426	NP_000417	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	28	4328	+			1408			Laminin EGF-like 14; second part.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4223G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572298	0.28092	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34275	1.37	5.15	-1.18	0.09617	.	0.687206	0.14601	N	0.309637	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B;B	0.19073	0.026;0.033	B;B	0.19391	0.007;0.025	T	0.32561	-0.9902	10	0.54805	T	0.06	.	5.9866	0.19438	0.2666:0.2318:0.5016:0.0	.	1408;1408	A6NF00;P24043	.;LAMA2_HUMAN	H	1408	ENSP00000400365:R1408H	ENSP00000346769:R1408H	R	+	2	0	LAMA2	129691162	0.000000	0.05858	0.054000	0.19295	0.465000	0.32709	-0.324000	0.07986	-0.063000	0.13065	0.467000	0.42956	CGC		0.502	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	131	0	0	0	1	0	5	131					A	129649469	G	A	129649469	3	1	105	1	0	0	0	0	1	0	0	0	8606	1087	38	1	4337	1	LAMA2	6	129649469	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	116365735	129649469	41465598	8	1837											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	49	0	0	0	1	0	41	49					T	140453136	A	T	140453136	3	4	105	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		140453136	18685527	9	1838											
ADAMDEC1	27299	broad.mit.edu	37	8	24254877	24254877	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr8:24254877G>A	ENST00000256412.4	+	6	755	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E100K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.E100K	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	179					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAACCAGGAGGAACAAGACCC	0.458																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(535-537)Gaa>Aaa		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.							221	213	216					8																	24254877		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254877G>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.535G>A	8.37:g.24254877G>A	ENSP00000256412:p.Glu179Lys		Somatic				ADAMDEC1_uc010lub.2_Missense_Mutation_p.E100K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E100K	p.E179K	NM_014479	NP_001138744	WXS	Illumina GAIIx	Phase_I	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	5	755	+		Prostate(55;0.0181)	179					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.535G>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893755	0.33442	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.02656	4.21;4.22;4.22	5.53	4.65	0.58169	.	0.312065	0.27595	N	0.018665	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.37267	0.245	T	0.50162	-0.8860	10	0.11182	T	0.66	-14.8166	12.4375	0.55608	0.0:0.1684:0.8316:0.0	.	179	O15204	ADEC1_HUMAN	K	179;100;100	ENSP00000256412:E179K;ENSP00000442592:E100K;ENSP00000428993:E100K	ENSP00000256412:E179K	E	+	1	0	ADAMDEC1	24310822	0.761000	0.28439	0.016000	0.15963	0.033000	0.12548	3.368000	0.52357	1.325000	0.45301	0.557000	0.71058	GAA		0.458	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		6	286	0	0	0	1	0	6	286					A	24254877	G	A	24254877	3	1	105	1	0	0	0	0	1	0	0	0	254	1175	41	2	557	2	ADAMDEC1	8	24254877	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		24254877	122109145	10	1839											
FXYD4	53828	broad.mit.edu	37	10	43869919	43869919	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:43869919C>G	ENST00000476166.1	+	4	373	c.39C>G	c.(37-39)ggC>ggG	p.G13G	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	13					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|large_intestine(1)|lung(3)	5						CCCACACAGGCCTGACTGCCT	0.587																																					GBM(173;880 2047 13035 42390 49655)	uc001jaq.1																			0				NS(1)|large_intestine(1)|lung(3)	5						c.e4-1		Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA.							141	136	138					10																	43869919		2203	4300	6503	SO:0001630	splice_region_variant	53828					integral to membrane		g.chr10:43869919C>G		CCDS7203.1	10q11.21	2008-02-01	2002-01-14		ENSG00000150201	ENSG00000150201			4028	protein-coding gene	gene with protein product			"FXYD domain-containing ion transport regulator 4"			10950925, 12763854	Standard	NM_001184963		Approved	CHIF	uc001jaq.1	P59646	OTTHUMG00000018027	ENST00000476166.1:c.38-1C>G	10.37:g.43869919C>G			Somatic					p.G13_splice	NM_001184963	NP_001171892	WXS	Illumina GAIIx	Phase_I	P59646	FXYD4_HUMAN			4	370	+			13					Q6UWZ1|Q7Z4M5	Splice_Site	SNP	ENST00000476166.1	37	c.38_splice	CCDS7203.1																																																																																				0.587	FXYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047698.2	NM_173160	Silent	95	164	0	0	0	1	0	95	164					G	43869919	C	G	43869919	5	3	105	1	0	0	0	0	0	0	1	0	6120	753	26	4	45	4	FXYD4	10	43869919	Splice_Site	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08		43869919	91664828	11	1840											
TLL2	7093	broad.mit.edu	37	10	98188429	98188429	+	Silent	SNP	C	C	A	rs141217387		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr10:98188429C>A	ENST00000357947.3	-	5	822	c.597G>T	c.(595-597)acG>acT	p.T199T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	199	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCTCATCCGTCCTTTCTA	0.498																																						uc001kml.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(595-597)acG>acT		Homo sapiens tolloid-like 2 (TLL2), mRNA.							138	114	122					10																	98188429		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98188429C>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.597G>T	10.37:g.98188429C>A			Somatic				TLL2_uc009xvf.2_Silent_p.T147T	p.T199T	NM_012465	NP_036597	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	4	838	-		Colorectal(252;0.0846)	199			Metalloprotease (By similarity).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.597G>T	CCDS7449.1																																																																																				0.498	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			3	86	0	0	0	1	0	3	86					A	98188429	C	A	98188429	2	1	105	1	0	0	0	0	0	0	0	1	15943	639	23	4		4	TLL2	10	98188429	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08	54318510	98188429	37346318	12	1841											
B3GNT6	192134	broad.mit.edu	37	11	76751195	76751195	+	Silent	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr11:76751195G>A	ENST00000533140.1	+	2	738	c.600G>A	c.(598-600)aaG>aaA	p.K200K	B3GNT6_ENST00000421061.1_Silent_p.K111K|B3GNT6_ENST00000354301.5_Silent_p.K200K			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TCACGCTCAAGCACCTGCACT	0.697																																						uc021qnp.1																			0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(598-600)aaG>aaA		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) (B3GNT6), mRNA.							44	48	46					11																	76751195		2195	4284	6479	SO:0001819	synonymous_variant	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76751195G>A	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"Beta 3-glycosyltransferases"	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.600G>A	11.37:g.76751195G>A			Somatic				B3GNT6_uc021qnq.1_Silent_p.K200K	p.K200K	NM_138706	NP_619651	WXS	Illumina GAIIx	Phase_I	Q6ZMB0	B3GN6_HUMAN			1	688	+			200					Q4TTN0	Silent	SNP	ENST00000533140.1	37	c.600G>A	CCDS53681.1																																																																																				0.697	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		78	88	0	0	0	1	0	78	88					A	76751195	G	A	76751195	2	1	105	1	0	0	0	0	0	0	0	1	1261	962	34	2		2	B3GNT6	11	76751195	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		76751195	58255321	13	1842											
GPR81	27198	broad.mit.edu	37	12	123214145	123214145	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr12:123214145G>A	ENST00000436083.2	-	1	1245	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	HCAR1_ENST00000356987.2_Missense_Mutation_p.P248S|HCAR1_ENST00000432564.1_Missense_Mutation_p.P248S			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	248					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GCACTCGAGGGCACCGTCCAG	0.537																																						uc001ucz.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(742-744)Ccc>Tcc		Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.							71	67	69					12																	123214145		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214145G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.742C>T	12.37:g.123214145G>A	ENSP00000409980:p.Pro248Ser		Somatic				HCAR1_uc001ucw.1_Non-coding_Transcript	p.P248S	NM_032554	NP_115943	WXS	Illumina GAIIx	Phase_I	Q9BXC0	HCAR1_HUMAN			0	985	-			248					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.742C>T	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	G	0.822	-0.748250	0.03065	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.70749	-0.51;-0.51;-0.51	5.51	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.212673	0.33670	N	0.004667	T	0.52613	0.1745	L	0.42245	1.32	0.22342	N	0.999188	B	0.14012	0.009	B	0.14023	0.01	T	0.31503	-0.9941	10	0.08179	T	0.78	-9.2199	4.2561	0.10717	0.2541:0.0:0.5865:0.1594	.	248	Q9BXC0	HCAR1_HUMAN	S	248	ENSP00000349478:P248S;ENSP00000389255:P248S;ENSP00000409980:P248S	ENSP00000349478:P248S	P	-	1	0	HCAR1	121780098	0.346000	0.24844	0.942000	0.38095	0.150000	0.21749	0.011000	0.13264	0.301000	0.22738	-0.136000	0.14681	CCC		0.537	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			4	76	0	0	0	1	0	4	76					A	123214145	G	A	123214145	3	1	105	1	0	0	0	0	1	0	0	0	6711	1203	42	2	302	2	GPR81	12	123214145	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		123214145	10637750	14	1843											
CHRNE	1145	broad.mit.edu	37	17	4805305	4805305	+	Missense_Mutation	SNP	G	G	A	rs121909512		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:4805305G>A	ENST00000293780.4	-	5	432	c.422C>T	c.(421-423)cCg>cTg	p.P141L	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	141			P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh). {ECO:0000269|PubMed:8755487}.		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)	GTAGATGGCCGGAGGCAGCCA	0.617																																						uc002fzk.1																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12	GRCh37	CM960299	CHRNE	M	rs121909512	c.(421-423)cCg>cTg		Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.							56	52	54					17																	4805305		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805305G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.422C>T	17.37:g.4805305G>A	ENSP00000293780:p.Pro141Leu		Somatic				C17orf107_uc002fzl.3_3'UTR	p.P141L	NM_000080	NP_000071	WXS	Illumina GAIIx	Phase_I	Q04844	ACHE_HUMAN			4	433	-			141		P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh).			D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.422C>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906638	0.92107	.	.	ENSG00000108556	ENST00000293780	D	0.81821	-1.54	4.78	4.78	0.61160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94760	0.7935	10	0.87932	D	0	.	15.3477	0.74355	0.0:0.0:1.0:0.0	.	141	Q04844	ACHE_HUMAN	L	141	ENSP00000293780:P141L	ENSP00000293780:P141L	P	-	2	0	CHRNE	4746084	1.000000	0.71417	0.979000	0.43373	0.678000	0.39670	9.585000	0.98223	2.500000	0.84329	0.561000	0.74099	CCG		0.617	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			3	102	0	0	0	1	0	3	102					A	4805305	G	A	4805305	3	1	105	1	0	0	0	0	1	0	0	0	3395	1116	39	1	1091	1	CHRNE	17	4805305	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		4805305	76389905	15	1844											
SHMT1	6470	broad.mit.edu	37	17	18232139	18232139	+	Silent	SNP	C	C	T			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:18232139C>T	ENST00000316694.3	-	12	1511	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SHMT1_ENST00000539052.1_Silent_p.A321A|RP1-178F10.3_ENST00000577764.1_lincRNA|SHMT1_ENST00000354098.3_Silent_p.A420A|SHMT1_ENST00000352886.6_Silent_p.A379A	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	459					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CCTGCACGGCCGCCTGGTACT	0.612																																						uc002gta.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(1375-1377)gcG>gcA		Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						35	34	34					17																	18232139		2203	4300	6503	SO:0001819	synonymous_variant	6470				L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18232139C>T		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"cytoplasmic serine hydroxymethyltransferase", "14 kDa protein"	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.1377G>A	17.37:g.18232139C>T			Somatic				SHMT1_uc002gsz.3_Silent_p.A234A|SHMT1_uc002gtb.3_Silent_p.A420A|SHMT1_uc010vxt.2_Silent_p.A321A	p.A459A	NM_004169	NP_004160	WXS	Illumina GAIIx	Phase_I	P34896	GLYC_HUMAN			11	1567	-			459					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Silent	SNP	ENST00000316694.3	37	c.1377G>A	CCDS11196.1																																																																																				0.612	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		3	43	0	0	0	1	0	3	43					T	18232139	C	T	18232139	2	4	105	1	0	0	0	0	0	0	0	1	14285	639	23	1		1	SHMT1	17	18232139	Silent	SNP	C	TCGA-DJ-A3UK-01A-11D-A22D-08	13426834	18232139	62963071	16	1845											
GAS2L2	246176	broad.mit.edu	37	17	34074068	34074068	+	Missense_Mutation	SNP	G	G	A	rs199814494		TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:34074068G>A	ENST00000254466.6	-	5	1079	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T335M	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	351					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAGGCCCCCGTCCCTGCTCC	0.612																																						uc002hjv.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1051-1053)aCg>aTg		Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.							36	40	39					17																	34074068		2202	4300	6502	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074068G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1052C>T	17.37:g.34074068G>A	ENSP00000254466:p.Thr351Met		Somatic					p.T351M	NM_139285	NP_644814	WXS	Illumina GAIIx	Phase_I	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1080	-		Ovarian(249;0.17)	351					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1052C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	8.108	0.778080	0.16120	.	.	ENSG00000132139	ENST00000254466	T	0.18502	2.21	4.8	2.69	0.31865	.	1.269660	0.05621	N	0.579895	T	0.13970	0.0338	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29274	-1.0017	10	0.42905	T	0.14	0.788	6.6506	0.22959	0.3146:0.0:0.6854:0.0	.	351	Q8NHY3	GA2L2_HUMAN	M	351	ENSP00000254466:T351M	ENSP00000254466:T351M	T	-	2	0	GAS2L2	31098181	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.405000	0.21015	0.667000	0.31107	-0.221000	0.12465	ACG		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		10	96	0	0	0	1	0	10	96					A	34074068	G	A	34074068	3	1	105	1	0	0	0	0	1	0	0	0	6247	1145	40	1	1598	1	GAS2L2	17	34074068	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	15841929	34074068	47121142	17	1846											
SCPEP1	59342	broad.mit.edu	37	17	55058499	55058499	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:55058499G>A	ENST00000262288.3	+	2	188	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	RP5-1107A17.4_ENST00000572877.1_RNA|SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	45					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TTATGTGACGGTCCGCAAGGA	0.493																																						uc002iuv.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(133-135)Gtc>Atc		Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.							144	117	126					17																	55058499		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55058499G>A	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.133G>A	17.37:g.55058499G>A	ENSP00000262288:p.Val45Ile		Somatic				SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_5'UTR	p.V45I	NM_021626	NP_067639	WXS	Illumina GAIIx	Phase_I	Q9HB40	RISC_HUMAN			1	186	+	Breast(9;2.86e-08)		45					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.133G>A	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247593	0.59103	.	.	ENSG00000121064	ENST00000262288	T	0.54479	0.57	5.84	4.87	0.63330	.	0.057623	0.64402	N	0.000001	T	0.70124	0.3188	M	0.80422	2.495	0.53688	D	0.999978	D	0.64830	0.994	P	0.62298	0.9	T	0.73642	-0.3918	10	0.52906	T	0.07	-19.048	12.9923	0.58627	0.0741:0.0:0.9259:0.0	.	45	Q9HB40	RISC_HUMAN	I	45	ENSP00000262288:V45I	ENSP00000262288:V45I	V	+	1	0	SCPEP1	52413498	1.000000	0.71417	0.719000	0.30619	0.032000	0.12392	5.084000	0.64462	1.468000	0.48064	0.655000	0.94253	GTC		0.493	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		3	67	0	0	0	1	0	3	67					A	55058499	G	A	55058499	3	1	105	1	0	0	0	0	1	0	0	0	13935	1261	44	2	139	2	SCPEP1	17	55058499	Missense_Mutation	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	20984431	55058499	26136711	18	1847											
TBC1D16	125058	broad.mit.edu	37	17	77926572	77926572	+	Silent	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr17:77926572G>A	ENST00000310924.2	-	4	940	c.825C>T	c.(823-825)aaC>aaT	p.N275N	TBC1D16_ENST00000570373.1_5'Flank|TBC1D16_ENST00000576768.1_5'Flank|TBC1D16_ENST00000572862.1_5'Flank|TBC1D16_ENST00000340848.7_5'Flank	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	275							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCAGGAGGCCGTTGCTGTCCG	0.682																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(823-825)aaC>aaT		Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.							24	28	27					17																	77926572		2200	4298	6498	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77926572G>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.825C>T	17.37:g.77926572G>A			Somatic				TBC1D16_uc002jxh.3_5'Flank|TBC1D16_uc002jxi.3_5'Flank|TBC1D16_uc002jxk.1_5'Flank	p.N275N	NM_019020	NP_061893	WXS	Illumina GAIIx	Phase_I	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		3	941	-	all_neural(118;0.167)		275					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.825C>T	CCDS11766.1																																																																																				0.682	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		4	102	0	0	0	1	0	4	102					A	77926572	G	A	77926572	2	1	105	1	0	0	0	0	0	0	0	1	15602	1136	40	1		1	TBC1D16	17	77926572	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08	22868073	77926572	3268638	19	1848											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						uc002mkp.3																			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.(982-984)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G			Somatic					p.P328P	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	1188	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	92	0	0	0	1	0	4	92					G	9090831	A	G	9090831	2	3	105	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-DJ-A3UK-01A-11D-A22D-08		9090831	50038152	20	1849											
ANGPT4	51378	broad.mit.edu	37	20	853717	853717	+	Silent	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chr20:853717G>A	ENST00000381922.3	-	9	1500	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	466	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						GAGCGTGGTAGTAGACGCCGT	0.612																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1396-1398)taC>taT		Homo sapiens angiopoietin 4 (ANGPT4), mRNA.							104	92	96					20																	853717		2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:853717G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1398C>T	20.37:g.853717G>A			Somatic				ANGPT4_uc010zpn.2_3'UTR	p.Y466Y	NM_015985	NP_057069	WXS	Illumina GAIIx	Phase_I	Q9Y264	ANGP4_HUMAN			8	1501	-			466			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.1398C>T	CCDS13009.1																																																																																				0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		3	66	0	0	0	1	0	3	66					A	853717	G	A	853717	2	1	105	1	0	0	0	0	0	0	0	1	612	1024	36	2		2	ANGPT4	20	853717	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		853717	62171803	21	1850											
FOXP3	50943	broad.mit.edu	37	X	49113414	49113414	+	Silent	SNP	G	G	A			TCGA-DJ-A3UK-01A-11D-A22D-08	TCGA-DJ-A3UK-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b796fc76-16ca-4659-a0a1-8b6f58ae6493	e5f80f02-e798-4861-bd03-6933647e5d7d	g.chrX:49113414G>A	ENST00000376207.4	-	5	697	c.510C>T	c.(508-510)acC>acT	p.T170T	FOXP3_ENST00000455775.2_Silent_p.T170T|FOXP3_ENST00000376197.1_Silent_p.T120T|FOXP3_ENST00000557224.1_Silent_p.T135T|FOXP3_ENST00000518685.1_Silent_p.T135T|FOXP3_ENST00000376199.2_Silent_p.T135T	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	170					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GATTTGGGAAGGTGCAGAGCA	0.652																																					GBM(182;1432 2112 16160 23073 31774)	uc011mnb.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(508-510)acC>acT		Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.							62	42	49					X																	49113414		2203	4300	6503	SO:0001819	synonymous_variant	50943				B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase 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 corepressor activity|zinc ion binding	g.chrX:49113414G>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.510C>T	X.37:g.49113414G>A			Somatic				FOXP3_uc011mnc.2_Silent_p.T170T|FOXP3_uc004dnf.4_Silent_p.T170T|FOXP3_uc004dne.4_Silent_p.T135T|FOXP3_uc022bwa.1_Silent_p.T120T	p.T170T	NM_014009	NP_054728	WXS	Illumina GAIIx	Phase_I	Q9BZS1	FOXP3_HUMAN			3	532	-	Ovarian(276;0.236)		170					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	ENST00000376207.4	37	c.510C>T	CCDS14323.1																																																																																				0.652	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		3	91	0	0	0	1	0	3	91					A	49113414	G	A	49113414	2	1	105	1	0	0	0	0	0	0	0	1	6028	987	35	2		2	FOXP3	23	49113414	Silent	SNP	G	TCGA-DJ-A3UK-01A-11D-A22D-08		49113414	106157146	22	1851											
DNAH5	1767	broad.mit.edu	37	5	13708384	13708384	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr5:13708384C>T	ENST00000265104.4	-	76	13290	c.13186G>A	c.(13186-13188)Gaa>Aaa	p.E4396K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4396					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTCTATTTCCTGCCTGAGG	0.473									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(13186-13188)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							155	139	144					5																	13708384		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13708384C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13186G>A	5.37:g.13708384C>T	ENSP00000265104:p.Glu4396Lys		Somatic				DNAH5_uc003jfc.2_Missense_Mutation_p.E564K	p.E4396K	NM_001369	NP_001360	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			75	13228	-	Lung NSC(4;0.00476)		4396					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13186G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618353	0.96649	.	.	ENSG00000039139	ENST00000265104	T	0.28895	1.59	5.2	5.2	0.72013	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	H	0.98646	4.29	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	D	0.84747	0.0754	10	0.87932	D	0	.	19.1015	0.93276	0.0:1.0:0.0:0.0	.	4396	Q8TE73	DYH5_HUMAN	K	4396	ENSP00000265104:E4396K	ENSP00000265104:E4396K	E	-	1	0	DNAH5	13761384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.731000	0.84895	2.581000	0.87130	0.655000	0.94253	GAA		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	141	0	0	0	1	0	4	141					T	13708384	C	T	13708384	3	4	106	1	0	0	0	0	1	0	0	0	4604	864	30	2	704	2	DNAH5	5	13708384	Missense_Mutation	SNP	C	TCGA-DJ-A3UM-01A-11D-A22D-08		13708384	167206876	1	1852											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	53	0	0	0	1	0	29	53					T	140453136	A	T	140453136	3	4	106	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UM-01A-11D-A22D-08		140453136	18685527	2	1853											
NLRP9	338321	broad.mit.edu	37	19	56244558	56244558	+	Silent	SNP	G	G	A			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr19:56244558G>A	ENST00000332836.2	-	2	666	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	213	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAATGTCTTCGATCTTCTCTG	0.443																																						uc002qly.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(637-639)atC>atT		Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.							33	32	32					19																	56244558		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56244558G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.639C>T	19.37:g.56244558G>A			Somatic					p.I213I	NM_176820	NP_789790	WXS	Illumina GAIIx	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	667	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	213			NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.639C>T	CCDS12934.1																																																																																				0.443	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		4	27	0	0	0	1	0	4	27					A	56244558	G	A	56244558	2	1	106	1	0	0	0	0	0	0	0	1	10484	1048	37	1		1	NLRP9	19	56244558	Silent	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08		56244558	2884425	3	1854											
ZNF835	90485	broad.mit.edu	37	19	57175063	57175063	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chr19:57175063G>A	ENST00000537055.2	-	2	1735	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	502					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCAAAGGCGTCCCGAACTG	0.647																																						uc010ygn.2																			0		p.G502G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1504-1506)Cgc>Tgc		Homo sapiens zinc finger protein 835 (ZNF835), mRNA.							113	124	120					19																	57175063		2200	4299	6499	SO:0001583	missense	90485							g.chr19:57175063G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1504C>T	19.37:g.57175063G>A	ENSP00000444747:p.Arg502Cys		Somatic					p.R502C	NM_001005850	NP_001005850	WXS	Illumina GAIIx	Phase_I					1	1731	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1504C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604344	0.28534	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07800	3.16	2.15	-4.29	0.03721	.	.	.	.	.	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	1	D	0.61080	0.989	P	0.47162	0.54	T	0.13522	-1.0506	9	0.87932	D	0	.	1.8729	0.03212	0.113:0.2833:0.1766:0.427	.	524	Q9Y2P0	ZN835_HUMAN	C	524;502	ENSP00000444747:R502C	ENSP00000341756:R524C	R	-	1	0	ZNF835	61866875	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.045000	0.03528	-1.410000	0.02035	-0.314000	0.08810	CGC		0.647	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	190	0	0	0	1	0	5	190					A	57175063	G	A	57175063	3	1	106	1	0	0	0	0	1	0	0	0	18183	1145	40	1	111	1	ZNF835	19	57175063	Missense_Mutation	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08	930505	57175063	1953920	4	1855											
RLIM	51132	broad.mit.edu	37	X	73811995	73811995	+	Silent	SNP	G	G	A			TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chrX:73811995G>A	ENST00000332687.6	-	4	1373	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	RLIM_ENST00000349225.2_Silent_p.P385P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	385					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTACGAATGGGAATTCTGA	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1153-1155)ccC>ccT		Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.							109	98	102					X																	73811995		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811995G>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1155C>T	X.37:g.73811995G>A			Somatic				RLIM_uc004ebw.3_Silent_p.P385P	p.P385P	NM_183353	NP_899196	WXS	Illumina GAIIx	Phase_I	Q9NVW2	RNF12_HUMAN			4	1445	-			385					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1155C>T	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	98	0	0	0	1	0	4	98					A	73811995	G	A	73811995	2	1	106	1	0	0	0	0	0	0	0	1	13390	1335	47	2		2	RLIM	23	73811995	Silent	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08		73811995	81458565	5	1856											
FLNA	2316	broad.mit.edu	37	X	153590835	153590835	+	Missense_Mutation	SNP	G	G	A	rs201603843		TCGA-DJ-A3UM-01A-11D-A22D-08	TCGA-DJ-A3UM-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	920558c4-24b2-41c0-8b2f-02d174d20e39	6ed58898-d4aa-4a0e-be59-25b1e8fbcca9	g.chrX:153590835G>A	ENST00000369850.3	-	17	2752	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	FLNA_ENST00000344736.4_Missense_Mutation_p.T839M|FLNA_ENST00000360319.4_Missense_Mutation_p.T839M|FLNA_ENST00000422373.1_Missense_Mutation_p.T839M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	839					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CCCCCGGGGCGTGTACTTGAC	0.592																																						uc004fkk.2																			0				breast(6)	6						c.(2515-2517)aCg>aTg		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.		G	MET/THR,MET/THR	1,3543		0,0,1,1487,569	88	98	95		2516,2516	4.9	1.0	X		95	5,6531		0,3,2,2363,1802	yes	missense,missense	FLNA	NM_001110556.1,NM_001456.3	81,81	0,3,3,3850,2371	AA,AG,A,GG,G		0.0765,0.0282,0.0595	probably-damaging,probably-damaging	839/2648,839/2640	153590835	6,10074	2057	4170	6227	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding	g.chrX:153590835G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2516C>T	X.37:g.153590835G>A	ENSP00000358866:p.Thr839Met		Somatic				FLNA_uc010nuu.1_Missense_Mutation_p.T839M	p.T839M	NM_001110556	NP_001104026	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			16	2765	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		839					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2516C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907966	0.52333	2.82E-4	7.65E-4	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.68952	0.3057	M	0.64676	1.99	0.80722	D	1	B;P	0.46784	0.194;0.884	B;P	0.45195	0.038;0.473	T	0.70813	-0.4770	10	0.38643	T	0.18	.	17.5374	0.87835	0.0:0.0:1.0:0.0	.	839;839	P21333-2;P21333	.;FLNA_HUMAN	M	839;812;839;839;839	ENSP00000353467:T839M;ENSP00000416926:T839M;ENSP00000358866:T839M;ENSP00000358863:T839M	ENSP00000358863:T839M	T	-	2	0	FLNA	153244029	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	6.605000	0.74155	2.156000	0.67533	0.529000	0.55759	ACG		0.592	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			19	149	0	0	0	1	0	19	149					A	153590835	G	A	153590835	3	1	106	1	0	0	0	0	1	0	0	0	5933	1145	40	1	5555	1	FLNA	23	153590835	Missense_Mutation	SNP	G	TCGA-DJ-A3UM-01A-11D-A22D-08	79778840	153590835	1679725	6	1857											
CSMD2	114784	broad.mit.edu	37	1	33985468	33985468	+	Silent	SNP	C	C	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:33985468C>A	ENST00000373381.4	-	69	10856	c.10680G>T	c.(10678-10680)ctG>ctT	p.L3560L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3416						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)				TGAAAGGCACCAGGATCGCGG	0.597																																						uc001bxm.1																			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.(10678-10680)ctG>ctT		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							42	42	42					1																	33985468		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33985468C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10680G>T	1.37:g.33985468C>A			Somatic				CSMD2_uc001bxn.1_Silent_p.L3416L	p.L3560L	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			68	10857	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3416					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.10680G>T																																																																																					0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		26	38	0	0	0	1	0	26	38					A	33985468	C	A	33985468	2	1	107	1	0	0	0	0	0	0	0	1	3945	581	21	4		4	CSMD2	1	33985468	Silent	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		33985468	215265153	1	1858											
TNN	63923	broad.mit.edu	37	1	175046794	175046794	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:175046794G>A	ENST00000239462.4	+	2	353	c.240G>A	c.(238-240)gaG>gaA	p.E80E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	80					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCCAGGGAGGAACAGAACA	0.607																																						uc001gkl.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(238-240)gaG>gaA		Homo sapiens tenascin N (TNN), mRNA.							63	52	56					1																	175046794		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046794G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.240G>A	1.37:g.175046794G>A			Somatic				TNN_uc010pmx.1_Silent_p.E80E	p.E80E	NM_022093	NP_071376	WXS	Illumina GAIIx	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	1	353	+		Breast(1374;0.000962)	80					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.240G>A	CCDS30943.1																																																																																				0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	72	0	0	0	1	0	3	72					A	175046794	G	A	175046794	2	1	107	1	0	0	0	0	0	0	0	1	16320	991	35	2		2	TNN	1	175046794	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	141061326	175046794	74203827	2	1859											
OBSCN	84033	broad.mit.edu	37	1	228467094	228467094	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr1:228467094G>A	ENST00000422127.1	+	27	7389	c.7345G>A	c.(7345-7347)Gtg>Atg	p.V2449M	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2449M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1296M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V2878M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2449					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)				GACCGGGCCCGTGCACTTCAC	0.697																																						uc009xez.1																			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.(7345-7347)Gtg>Atg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							33	39	37					1																	228467094		2083	4201	6284	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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228467094G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7345G>A	1.37:g.228467094G>A	ENSP00000409493:p.Val2449Met		Somatic				OBSCN_uc001hsn.3_Missense_Mutation_p.V2449M|OBSCN_uc001hsp.1_Missense_Mutation_p.V148M|OBSCN_uc001hsq.1_5'Flank	p.V2449M	NM_001098623	NP_001092093	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			26	7389	+		Prostate(94;0.0405)	2449					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.7345G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084305	0.36758	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.41400	1.0;1.0;1.0	4.47	4.47	0.54385	Immunoglobulin-like fold (1);	0.092821	0.42964	D	0.000625	T	0.56470	0.1987	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.72338	0.902;0.977;0.968	T	0.58792	-0.7574	10	0.51188	T	0.08	.	5.303	0.15788	0.1396:0.2051:0.6553:0.0	.	2449;2449;2449	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	M	2449;2449;1296;148	ENSP00000284548:V2449M;ENSP00000409493:V2449M;ENSP00000352613:V1296M	ENSP00000284548:V2449M	V	+	1	0	OBSCN	226533717	0.992000	0.36948	0.951000	0.38953	0.068000	0.16541	2.087000	0.41653	2.207000	0.71202	0.555000	0.69702	GTG		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	102	0	0	0	1	0	3	102					A	228467094	G	A	228467094	3	1	107	1	0	0	0	0	1	0	0	0	10812	1145	40	1	7447	1	OBSCN	1	228467094	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	53420300	228467094	20783527	3	1860											
GFPT1	2673	broad.mit.edu	37	2	69597225	69597225	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:69597225C>T	ENST00000357308.4	-	3	309	c.131G>A	c.(130-132)gGa>gAa	p.G44E	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.G44E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	44	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATCATTGCCTCCATCAAATCC	0.338																																						uc002sfi.2																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(130-132)gGa>gAa		Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.							165	152	156					2																	69597225		2203	4300	6503	SO:0001583	missense	2673				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69597225C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.131G>A	2.37:g.69597225C>T	ENSP00000349860:p.Gly44Glu		Somatic				GFPT1_uc002sfh.3_Missense_Mutation_p.G44E	p.G44E	NM_001244710	NP_001231639	WXS	Illumina GAIIx	Phase_I	Q06210	GFPT1_HUMAN			2	314	-			44			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.131G>A	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614414	0.66672	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76448	-1.02;-1.02	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84812	0.0791	10	0.66056	D	0.02	-16.2681	16.9241	0.86170	0.0:1.0:0.0:0.0	.	44	Q06210-2	.	E	44	ENSP00000349860:G44E;ENSP00000354347:G44E	ENSP00000349860:G44E	G	-	2	0	GFPT1	69450729	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.161000	0.77505	2.586000	0.87340	0.455000	0.32223	GGA		0.338	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				45	74	0	0	0	1	0	45	74					T	69597225	C	T	69597225	3	4	107	1	0	0	0	0	1	0	0	0	6345	855	30	2	1982	2	GFPT1	2	69597225	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		69597225	173602148	4	1861											
WDR33	55339	broad.mit.edu	37	2	128466403	128466403	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr2:128466403G>C	ENST00000322313.4	-	21	3787	c.3629C>G	c.(3628-3630)tCc>tGc	p.S1210C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1210					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GCTGGCTGGGGAATGACCGTC	0.557																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3628-3630)tCc>tGc		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							67	66	66					2																	128466403		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128466403G>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3629C>G	2.37:g.128466403G>C	ENSP00000325377:p.Ser1210Cys		Somatic					p.S1210C	NM_018383	NP_060853	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	20	3828	-	Colorectal(110;0.1)		1210					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3629C>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646751	0.87958	.	.	ENSG00000136709	ENST00000322313	D	0.93488	-3.23	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94937	0.8088	10	0.59425	D	0.04	-8.6502	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1210	Q9C0J8	WDR33_HUMAN	C	1210	ENSP00000325377:S1210C	ENSP00000325377:S1210C	S	-	2	0	WDR33	128182873	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.320000	0.96346	2.640000	0.89533	0.655000	0.94253	TCC		0.557	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		28	56	0	0	0	1	0	28	56					C	128466403	G	C	128466403	3	2	107	1	0	0	0	0	1	0	0	0	17284	1174	41	4	389	4	WDR33	2	128466403	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	58869178	128466403	114732970	5	1862											
SETD5	55209	broad.mit.edu	37	3	9512205	9512205	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:9512205C>G	ENST00000406341.1	+	18	2977	c.2787C>G	c.(2785-2787)agC>agG	p.S929R	SETD5_ENST00000402466.1_Missense_Mutation_p.S831R|SETD5_ENST00000302463.6_Missense_Mutation_p.S831R|SETD5_ENST00000407969.1_Missense_Mutation_p.S948R|SETD5_ENST00000402198.1_Missense_Mutation_p.S929R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	929										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACACTAACAGCTGTGCTGATA	0.493																																						uc003brt.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2785-2787)agC>agG		Homo sapiens SET domain containing 5 (SETD5), mRNA.							200	188	191					3																	9512205		1923	4131	6054	SO:0001583	missense	55209							g.chr3:9512205C>G	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2787C>G	3.37:g.9512205C>G	ENSP00000383939:p.Ser929Arg		Somatic				SETD5_uc003bru.3_Missense_Mutation_p.S831R|SETD5_uc003brv.3_Missense_Mutation_p.S818R|SETD5_uc010hck.3_Missense_Mutation_p.S411R|SETD5_uc003brx.3_Missense_Mutation_p.S598R	p.S929R	NM_001080517	NP_001073986	WXS	Illumina GAIIx	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	18	3222	+	Medulloblastoma(99;0.227)		929					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.2787C>G	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.497258|2.497258	0.44352|0.44352	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686;ENST00000421188|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.|D;D;D;D;D	.|0.92805	.|-2.79;-3.11;-2.79;-2.78;-3.11	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.436897	.|0.27531	.|N	.|0.018941	D|D	0.85885|0.85885	0.5801|0.5801	N|N	0.14661|0.14661	0.345|0.345	0.40055|0.40055	D|D	0.975827|0.975827	.|B;B;B	.|0.27416	.|0.178;0.045;0.148	.|B;B;B	.|0.23275	.|0.045;0.045;0.035	T|T	0.83227|0.83227	-0.0065|-0.0065	5|10	.|0.44086	.|T	.|0.13	-1.901|-1.901	18.9705|18.9705	0.92713|0.92713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|598;831;929	.|B3KXG4;Q9C0A6-3;Q9C0A6	.|.;.;SETD5_HUMAN	V|R	597;260|929;831;929;948;831	.|ENSP00000385852:S929R;ENSP00000384429:S831R;ENSP00000383939:S929R;ENSP00000384114:S948R;ENSP00000302028:S831R	.|ENSP00000302028:S831R	L|S	+|+	1|3	2|2	SETD5|SETD5	9487205|9487205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.271000|4.271000	0.58902|0.58902	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	CTG|AGC		0.493	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		8	293	0	0	0	1	0	8	293					G	9512205	C	G	9512205	3	3	107	1	0	0	0	0	1	0	0	0	14134	796	28	4	2853	4	SETD5	3	9512205	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		9512205	188510225	6	1863											
CDCP1	64866	broad.mit.edu	37	3	45153738	45153738	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:45153738G>A	ENST00000296129.1	-	3	626	c.492C>T	c.(490-492)agC>agT	p.S164S	CDCP1_ENST00000490471.1_5'Flank|CDCP1_ENST00000425231.2_Silent_p.S164S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	164						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGATTCGGCCGCTGATGGAGT	0.562																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(490-492)agC>agT		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							148	142	144					3																	45153738		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45153738G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.492C>T	3.37:g.45153738G>A			Somatic				CDCP1_uc003con.3_Silent_p.S164S	p.S164S	NM_022842	NP_073753	WXS	Illumina GAIIx	Phase_I	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	627	-			164					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.492C>T	CCDS2727.1																																																																																				0.562	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		5	249	0	0	0	1	0	5	249					A	45153738	G	A	45153738	2	1	107	1	0	0	0	0	0	0	0	1	3093	1078	38	1		1	CDCP1	3	45153738	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	35641533	45153738	152868692	7	1864											
GMPS	8833	broad.mit.edu	37	3	155628609	155628609	+	Missense_Mutation	SNP	G	G	A	rs371983046		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr3:155628609G>A	ENST00000496455.2	+	6	990	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	GMPS_ENST00000295920.7_Missense_Mutation_p.V120M	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	219	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AACCTTCACCGTGCAGAACAG	0.393			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	uc003faq.3				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)Gtg>Atg		Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	MET/VAL	0,3752		0,0,1876	104	101	102		655	6.0	1.0	3		102	1,8211		0,1,4105	no	missense	GMPS	NM_003875.2	21	0,1,5981	AA,AG,GG		0.0122,0.0,0.0084	benign	219/694	155628609	1,11963	1876	4106	5982	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155628609G>A	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.655G>A	3.37:g.155628609G>A	ENSP00000419851:p.Val219Met		Somatic				GMPS_uc011bom.2_Missense_Mutation_p.V120M	p.V219M	NM_003875	NP_003866	WXS	Illumina GAIIx	Phase_I	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	990	+			219					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.655G>A	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520132	0.27211	0.0	1.22E-4	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	N	0.00069	-2.28	0.80722	D	1	P;P	0.37038	0.524;0.579	B;B	0.21917	0.022;0.037	T	0.54430	-0.8295	9	0.02654	T	1	-13.2532	20.5373	0.99239	0.0:0.0:1.0:0.0	.	120;219	F8W720;P49915	.;GUAA_HUMAN	M	219;120;168;219	.	ENSP00000295920:V120M	V	+	1	0	GMPS	157111303	1.000000	0.71417	0.986000	0.45419	0.787000	0.44495	9.338000	0.96553	2.857000	0.98124	0.650000	0.86243	GTG		0.393	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			3	124	0	0	0	1	0	3	124					A	155628609	G	A	155628609	3	1	107	1	0	0	0	0	1	0	0	0	6498	1145	40	1	677	1	GMPS	3	155628609	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	110474871	155628609	42393821	8	1865											
IGFBP7	3490	broad.mit.edu	37	4	57976131	57976131	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr4:57976131G>A	ENST00000295666.4	-	1	420	c.387C>T	c.(385-387)agC>agT	p.S129S	IGFBP7-AS1_ENST00000508328.1_RNA|IGFBP7_ENST00000537922.1_Silent_p.S129S|IGFBP7-AS1_ENST00000499667.2_RNA	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	129	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""Insulin(DB00071)|Insulin Regular(DB00030)"	GCTGGCAGCCGCTCGGGTAGG	0.721																																						uc003hcn.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(385-387)agC>agT		Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						7	8	8					4																	57976131		2083	4098	6181	SO:0001819	synonymous_variant	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57976131G>A	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"Immunoglobulin superfamily / I-set domain containing"	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.387C>T	4.37:g.57976131G>A			Somatic				IGFBP7_uc011cag.2_Silent_p.S129S|LOC255130_uc003hco.3_Non-coding_Transcript	p.S129S	NM_001553	NP_001544	WXS	Illumina GAIIx	Phase_I	Q16270	IBP7_HUMAN			0	421	-	Glioma(25;0.08)|all_neural(26;0.181)		129			Kazal-like.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Silent	SNP	ENST00000295666.4	37	c.387C>T	CCDS3512.1																																																																																				0.721	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			2	2	0	0	0	1	0	2	2					A	57976131	G	A	57976131	2	1	107	1	0	0	0	0	0	0	0	1	7584	1078	38	1		1	IGFBP7	4	57976131	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		57976131	133178145	9	1866											
ENC1	8507	broad.mit.edu	37	5	73931990	73931990	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:73931990G>A	ENST00000302351.4	-	2	1451	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ENC1_ENST00000537006.1_Silent_p.S107S|ENC1_ENST00000510316.1_Silent_p.S34S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	107	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGACCCGGGAGGAGTACGCAT	0.512																																						uc003kdc.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(319-321)tcC>tcT		Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.							115	106	109					5																	73931990		2203	4300	6503	SO:0001819	synonymous_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931990G>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.321C>T	5.37:g.73931990G>A			Somatic				ENC1_uc011css.2_Silent_p.S34S|ENC1_uc021yao.1_Silent_p.S107S	p.S107S	NM_003633	NP_003624	WXS	Illumina GAIIx	Phase_I	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	1	1452	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	107			BTB.		B4DHJ1|E9PFU0|O75464|Q9UPG9	Silent	SNP	ENST00000302351.4	37	c.321C>T	CCDS4021.1																																																																																				0.512	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		3	133	0	0	0	1	0	3	133					A	73931990	G	A	73931990	2	1	107	1	0	0	0	0	0	0	0	1	5113	987	35	2		2	ENC1	5	73931990	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		73931990	106983270	10	1867											
FBN2	2201	broad.mit.edu	37	5	127654570	127654570	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr5:127654570C>G	ENST00000508053.1	-	41	5569		c.e41+1		FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGACCATACCTGTACAGTT	0.383																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197	GRCh37	CS072202	FBN2	S		c.e35+1		Homo sapiens fibrillin 2 (FBN2), mRNA.							107	97	100					5																	127654570		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127654570C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4594+1G>C	5.37:g.127654570C>G			Somatic					p.D1532_splice	NM_001999	NP_001990	WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	35	5033	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1532			EGF-like 26; calcium-binding.		B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.4594_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483608	0.84854	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5002	0.90878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127682469	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.500000	0.81588	2.679000	0.91253	0.655000	0.94253	.		0.383	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	4	140	0	0	0	1	0	4	140					G	127654570	C	G	127654570	5	3	107	1	0	0	0	0	0	0	1	0	5703	521	18	4	4267	4	FBN2	5	127654570	Splice_Site	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	53722580	127654570	53260690	11	1868											
AMD1	262	broad.mit.edu	37	6	111210065	111210065	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr6:111210065G>T	ENST00000368885.3	+	3	539	c.203G>T	c.(202-204)aGt>aTt	p.S68I	AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.S39I	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	68		Cleavage (non-hydrolytic); by autolysis.			cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGCAGTGAGAGTAGCATGTTT	0.383																																						uc003puk.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(202-204)aGt>aTt		Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	S-Adenosylmethionine(DB00118)						87	85	86					6																	111210065		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210065G>T	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.203G>T	6.37:g.111210065G>T	ENSP00000357880:p.Ser68Ile		Somatic				AMD1_uc011eay.1_5'UTR|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.S39I|AMD1_uc011eba.1_Intron	p.S68I	NM_001634	NP_001028231	WXS	Illumina GAIIx	Phase_I	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	2	525	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	68				Cleavage (non-hydrolytic); by autolysis.	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.203G>T	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863972	0.91511	.	.	ENSG00000123505	ENST00000368885;ENST00000368877	.	.	.	5.55	5.55	0.83447	S-adenosylmethionine decarboxylase, core (2);S-adenosylmethionine decarboxylase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88529	0.6461	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.91411	0.5151	9	0.87932	D	0	.	19.5083	0.95130	0.0:0.0:1.0:0.0	.	39;68	A6NNH3;P17707	.;DCAM_HUMAN	I	68;39	.	ENSP00000357871:S39I	S	+	2	0	AMD1	111316758	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.539000	0.82063	2.611000	0.88343	0.591000	0.81541	AGT		0.383	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			3	128	0	0	0	1	0	3	128					T	111210065	G	T	111210065	3	4	107	1	0	0	0	0	1	0	0	0	566	1029	36	4	213	4	AMD1	6	111210065	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		111210065	59905002	12	1869											
TWIST1	7291	broad.mit.edu	37	7	19156404	19156404	+	Nonsense_Mutation	SNP	C	C	A	rs104894058		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:19156404C>A	ENST00000242261.5	-	1	891	c.541G>T	c.(541-543)Gag>Tag	p.E181*	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	181	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)	p.E181*(1)		lung(2)|upper_aerodigestive_tract(1)	3						CTGAGCCGCTCGTGAGCCACA	0.657																																						uc003sum.3																			1	Substitution - Nonsense(1)	p.E181*(2)	upper_aerodigestive_tract(1)	lung(2)|upper_aerodigestive_tract(1)	3	GRCh37	CM990110	TWIST1	M	rs104894058	c.(541-543)Gag>Tag		Homo sapiens twist homolog 1 (Drosophila) (TWIST1), mRNA.							61	52	55					7																	19156404		2203	4300	6503	SO:0001587	stop_gained	7291				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr7:19156404C>A	U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"Basic helix-loop-helix proteins"	12428	protein-coding gene	gene with protein product	"Saethre-Chotzen syndrome"	601622	"blepharophimosis, epicanthus inversus and ptosis 3", "acrocephalosyndactyly 3", "twist homolog 1 (Drosophila)", "twist basic helix-loop-helix transcription factor 1", "craniosynostosis"	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.541G>T	7.37:g.19156404C>A	ENSP00000242261:p.Glu181*		Somatic				TWIST1_uc022aah.1_Nonsense_Mutation_p.E181*	p.E181*	NM_000474	NP_000465	WXS	Illumina GAIIx	Phase_I	Q15672	TWST1_HUMAN			0	892	-			181			Sufficient for transactivation activity (By similarity).		A4D128|Q92487|Q99804	Nonsense_Mutation	SNP	ENST00000242261.5	37	c.541G>T	CCDS5367.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.910460	0.92107	.	.	ENSG00000122691	ENST00000242261	.	.	.	4.73	4.73	0.59995	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-16.7111	17.3798	0.87401	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000242261:E181X	E	-	1	0	TWIST1	19122929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.687000	0.84139	2.190000	0.69967	0.449000	0.29647	GAG		0.657	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207625.1	NM_000474		16	26	0	0	0	1	0	16	26					A	19156404	C	A	19156404	4	1	107	1	0	0	0	0	0	1	0	0	16780	893	31	4	71	4	TWIST1	7	19156404	Nonsense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		19156404	139982259	13	1870											
DOCK4	9732	broad.mit.edu	37	7	111474657	111474657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:111474657delT	ENST00000437633.1	-	26	3078	c.2822delA	c.(2821-2823)aagfs	p.K941fs	DOCK4_ENST00000428084.1_Frame_Shift_Del_p.K941fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	941					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGTTCTTCCTTTGTATTAAA	0.313																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2929-2931)aagfs		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							44	44	44					7																	111474657		1814	4054	5868	SO:0001589	frameshift_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	g.chr7:111474657delT		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2822delA	7.37:g.111474657delT	ENSP00000404179:p.Lys941fs		Somatic				DOCK4_uc003vfw.3_Frame_Shift_Del_p.K382fs|DOCK4_uc003vfx.3_Frame_Shift_Del_p.K941fs	p.K977fs	NM_014705	NP_055520	WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			26	3199	-		Acute lymphoblastic leukemia(1;0.0441)	941					O14584|O94824|Q8NB45	Frame_Shift_Del	DEL	ENST00000437633.1	37	c.2930delA	CCDS47688.1																																																																																				0.313	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		2	4						2	4	---	---	---	---	-	111474657	T	-	111474657	7	5	107	1	0	1	0	1	0	0	0	0	4689	1609	56	0	3186	0	DOCK4	7	111474657	Frame_Shift_Del	DEL	T	TCGA-DJ-A3UN-01A-11D-A22D-08	92318253	111474657	47664006	14	1871											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	72	0	0	0	1	0	35	72					T	140453136	A	T	140453136	3	4	107	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08	28978479	140453136	18685527	15	1872											
GIMAP2	26157	broad.mit.edu	37	7	150389724	150389724	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr7:150389724G>A	ENST00000223293.5	+	3	444	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	117	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTGGGCCGCTATACCTCA	0.552																																						uc003who.3																			0				kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13						c.(349-351)cGc>cAc		Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.							48	42	44					7																	150389724		2203	4300	6503	SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150389724G>A	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.350G>A	7.37:g.150389724G>A	ENSP00000223293:p.Arg117His		Somatic					p.R117H	NM_015660	NP_056475	WXS	Illumina GAIIx	Phase_I	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	438	+			117					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.350G>A	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262386	0.39995	.	.	ENSG00000106560	ENST00000223293	T	0.08193	3.12	3.9	2.06	0.26882	AIG1 (1);	0.000000	0.64402	D	0.000001	T	0.23054	0.0557	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.00756	-1.1579	10	0.62326	D	0.03	.	6.1771	0.20449	0.2383:0.0:0.7617:0.0	.	117	Q9UG22	GIMA2_HUMAN	H	117	ENSP00000223293:R117H	ENSP00000223293:R117H	R	+	2	0	GIMAP2	150020657	0.996000	0.38824	0.820000	0.32676	0.042000	0.13812	2.686000	0.46968	0.440000	0.26502	0.609000	0.83330	CGC		0.552	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		3	56	0	0	0	1	0	3	56					A	150389724	G	A	150389724	3	1	107	1	0	0	0	0	1	0	0	0	6380	1087	38	1	356	1	GIMAP2	7	150389724	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	9936588	150389724	8748939	16	1873											
CNOT7	29883	broad.mit.edu	37	8	17092255	17092255	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:17092255C>G	ENST00000361272.4	-	5	886	c.588G>C	c.(586-588)aaG>aaC	p.K196N	CNOT7_ENST00000523917.1_Missense_Mutation_p.K196N	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	196					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|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)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|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 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 transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TCATGAGGTACTTCACATCAT	0.413																																						uc003wxf.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(586-588)aaG>aaC		Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.							139	128	132					8																	17092255		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17092255C>G	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"BTG1 binding factor 1"	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.588G>C	8.37:g.17092255C>G	ENSP00000355279:p.Lys196Asn		Somatic				CNOT7_uc003wxg.1_Missense_Mutation_p.K196N|CNOT7_uc003wxh.1_Missense_Mutation_p.K196N	p.K196N	NM_013354	NP_037486	WXS	Illumina GAIIx	Phase_I	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	4	756	-			196					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.588G>C	CCDS6000.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.92|18.92|18.92	3.726583|3.726583|3.726583	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000198791|ENSG00000198791|ENSG00000198791	ENST00000361272;ENST00000523917|ENST00000519918|ENST00000518541	T;T|.|.	0.37915|.|.	1.17;1.17|.|.	5.06|5.06|5.06	4.19|4.19|4.19	0.49359|0.49359|0.49359	Ribonuclease H-like (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75989|0.75989|0.75989	0.3925|0.3925|0.3925	M|M|M	0.87617|0.87617|0.87617	2.895|2.895|2.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.91635|.|.	0.996;0.999|.|.	T|T|T	0.78270|0.78270|0.78270	-0.2269|-0.2269|-0.2269	10|5|5	0.54805|.|.	T|.|.	0.06|.|.	-21.1729|-21.1729|-21.1729	9.6873|9.6873|9.6873	0.40107|0.40107|0.40107	0.0:0.7774:0.0:0.2226|0.0:0.7774:0.0:0.2226|0.0:0.7774:0.0:0.2226	.|.|.	196;196|.|.	G3V108;Q9UIV1|.|.	.;CNOT7_HUMAN|.|.	N|T|L	196|176|39	ENSP00000355279:K196N;ENSP00000429093:K196N|.|.	ENSP00000355279:K196N|.|.	K|S|V	-|-|-	3|2|1	2|0|0	CNOT7|CNOT7|CNOT7	17136626|17136626|17136626	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	0.740000|0.740000|0.740000	0.26188|0.26188|0.26188	1.449000|1.449000|1.449000	0.47699|0.47699|0.47699	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAG|AGT|GTA		0.413	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		39	100	0	0	0	1	0	39	100					G	17092255	C	G	17092255	3	3	107	1	0	0	0	0	1	0	0	0	3624	564	20	4	287	4	CNOT7	8	17092255	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		17092255	129271767	17	1874											
DOK2	9046	broad.mit.edu	37	8	21767190	21767190	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:21767190G>A	ENST00000276420.4	-	5	1129	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOK2_ENST00000544659.1_Missense_Mutation_p.R137W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	291	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCCCGAGGCCGTGGAGCAGGC	0.677																																						uc003wzx.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(871-873)Cgg>Tgg		Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.							45	49	48					8																	21767190		2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767190G>A	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.871C>T	8.37:g.21767190G>A	ENSP00000276420:p.Arg291Trp		Somatic				DOK2_uc003wzy.1_Missense_Mutation_p.R291W|DOK2_uc003wzz.1_Missense_Mutation_p.R137W|DOK2_uc010lth.1_Missense_Mutation_p.R137W	p.R291W	NM_003974	NP_003965	WXS	Illumina GAIIx	Phase_I	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	964	-			291			Pro-rich.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.871C>T	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	9.067	0.995885	0.19043	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197	T;T;T	0.47869	1.79;1.35;0.83	5.27	1.86	0.25419	.	0.909885	0.09022	N	0.860038	T	0.41003	0.1140	M	0.63428	1.95	0.09310	N	1	D;D	0.56035	0.974;0.974	B;B	0.40565	0.333;0.333	T	0.29119	-1.0022	10	0.38643	T	0.18	.	5.4262	0.16427	0.0934:0.1376:0.6196:0.1495	.	291;291	O60496;A8K7W1	DOK2_HUMAN;.	W	291;137;137	ENSP00000276420:R291W;ENSP00000443602:R137W;ENSP00000430729:R137W	ENSP00000276420:R291W	R	-	1	2	DOK2	21823136	0.009000	0.17119	0.001000	0.08648	0.053000	0.15095	1.483000	0.35497	0.543000	0.28864	0.655000	0.94253	CGG		0.677	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		4	165	0	0	0	1	0	4	165					A	21767190	G	A	21767190	3	1	107	1	0	0	0	0	1	0	0	0	4697	1144	40	1	371	1	DOK2	8	21767190	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	4674935	21767190	124596832	18	1875											
ADRA1A	148	broad.mit.edu	37	8	26722176	26722176	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:26722176G>A	ENST00000519229.1	-	1	317	c.311C>T	c.(310-312)gCa>gTa	p.A104V	ADRA1A_ENST00000276393.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A104V|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A104V|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A104V|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A104V|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A104V|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A104V			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	174					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACATCCACTGCCGCCCAGAT	0.632																																						uc003xfc.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(310-312)gCa>gTa		Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						104	97	99					8																	26722176		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722176G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.311C>T	8.37:g.26722176G>A	ENSP00000430793:p.Ala104Val		Somatic				ADRA1A_uc010lul.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A104V|ADRA1A_uc010lum.1_Missense_Mutation_p.A104V|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfh.1_Missense_Mutation_p.A104V|ADRA1A_uc022atd.1_Missense_Mutation_p.A104V	p.A104V	NM_033303	NP_150646	WXS	Illumina GAIIx	Phase_I	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	0	747	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	104					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.311C>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.830216	0.91036	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.74467	2.265	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;0.997;1.0;0.999;0.998;0.999	T	0.67337	-0.5696	10	0.87932	D	0	.	17.898	0.88895	0.0:0.0:1.0:0.0	.	104;104;104;104;104;104	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	V	104	ENSP00000369960:A104V;ENSP00000369961:A104V;ENSP00000369956:A104V;ENSP00000369955:A104V;ENSP00000430793:A104V;ENSP00000346557:A104V;ENSP00000276393:A104V;ENSP00000369947:A104V;ENSP00000369946:A104V;ENSP00000351725:A104V	ENSP00000276393:A104V	A	-	2	0	ADRA1A	26778093	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.807000	0.99171	2.365000	0.80145	0.563000	0.77884	GCA		0.632	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		46	86	0	0	0	1	0	46	86					A	26722176	G	A	26722176	3	1	107	1	0	0	0	0	1	0	0	0	334	1319	46	2	1388	2	ADRA1A	8	26722176	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	4954986	26722176	119641846	19	1876											
PLAG1	5324	broad.mit.edu	37	8	57078936	57078936	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:57078936G>A	ENST00000316981.3	-	5	1848	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	PLAG1_ENST00000429357.2_Missense_Mutation_p.P457S|PLAG1_ENST00000423799.2_Missense_Mutation_p.P375S	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	457	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTTTGTGGGGGGAGCTGGGAA	0.478			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																	uc003xsq.4				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"TCEA1, LIFR, CTNNB1, CHCHD7"		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1369-1371)Ccc>Tcc		Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.							127	128	128					8																	57078936		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57078936G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1369C>T	8.37:g.57078936G>A	ENSP00000325546:p.Pro457Ser		Somatic				PLAG1_uc003xsr.4_Missense_Mutation_p.P457S|PLAG1_uc010lyi.3_Missense_Mutation_p.P457S|PLAG1_uc010lyj.3_Missense_Mutation_p.P375S|PLAG1_uc022aur.1_Missense_Mutation_p.P375S	p.P457S	NM_001114635	NP_001108107	WXS	Illumina GAIIx	Phase_I	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		2	1820	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	457			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1369C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460762	0.63513	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12984	2.63;3.33;2.63	6.03	6.03	0.97812	.	0.163320	0.56097	D	0.000040	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.04708	-1.0932	10	0.19590	T	0.45	-22.8173	20.5666	0.99351	0.0:0.0:1.0:0.0	.	457	Q6DJT9	PLAG1_HUMAN	S	457;375;457	ENSP00000325546:P457S;ENSP00000404067:P375S;ENSP00000416537:P457S	ENSP00000325546:P457S	P	-	1	0	PLAG1	57241490	1.000000	0.71417	0.783000	0.31826	0.991000	0.79684	6.143000	0.71756	2.854000	0.98071	0.655000	0.94253	CCC		0.478	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		4	189	0	0	0	1	0	4	189					A	57078936	G	A	57078936	3	1	107	1	0	0	0	0	1	0	0	0	12018	1232	43	2	137	2	PLAG1	8	57078936	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	30356760	57078936	89285086	20	1877											
EPPK1	83481	broad.mit.edu	37	8	144940551	144940551	+	Missense_Mutation	SNP	C	C	A	rs201579633	byFrequency	TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr8:144940551C>A	ENST00000525985.1	-	2	6942	c.6871G>T	c.(6871-6873)Gtg>Ttg	p.V2291L				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2291M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721																																						uc003zaa.1																			1	Substitution - Missense(1)	p.V2291M(2)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6871-6873)Gtg>Ttg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							74	75	74					8																	144940551		2167	4249	6416	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940551C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6871G>T	8.37:g.144940551C>A	ENSP00000436337:p.Val2291Leu		Somatic					p.V2291L	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	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)		0	6884	-	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)		2291					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6871G>T		.	.	.	.	.	.	.	.	.	.	C	14.47	2.544751	0.45280	.	.	ENSG00000227184	ENST00000525985	T	0.54479	0.57	4.63	2.79	0.32731	.	.	.	.	.	T	0.31295	0.0792	N	0.01473	-0.845	0.29005	N	0.887257	B	0.24768	0.111	B	0.42422	0.387	T	0.42413	-0.9453	9	0.02654	T	1	.	12.5997	0.56491	0.0:0.5022:0.4978:0.0	.	2291	E9PPU0	.	L	2291	ENSP00000436337:V2291L	ENSP00000436337:V2291L	V	-	1	0	EPPK1	145012539	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.768000	0.04715	0.545000	0.28902	0.586000	0.80456	GTG		0.721	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		11	170	0	0	0	1	0	11	170					A	144940551	C	A	144940551	3	1	107	1	0	0	0	0	1	0	0	0	5190	536	19	4	395	4	EPPK1	8	144940551	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	87861615	144940551	1423471	21	1878											
SYK	6850	broad.mit.edu	37	9	93629413	93629413	+	Splice_Site	SNP	A	A	G			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr9:93629413A>G	ENST00000375754.4	+	7	995	c.847A>G	c.(847-849)Act>Gct	p.T283A	SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Splice_Site_p.T283A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	283	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGGTTTCTAGACTTGGTCAGC	0.438			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																	uc004aqz.3				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"ETV6, ITK"		"MDS, peripheral T-cell lymphoma"		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.e7-1		Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.							175	168	170					9																	93629413		2203	4300	6503	SO:0001630	splice_region_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93629413A>G	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.847-1A>G	9.37:g.93629413A>G			Somatic				SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Splice_Site_p.T283_splice|SYK_uc011ltt.2_Splice_Site|SYK_uc011ltr.2_Splice_Site|SYK_uc011lts.2_Splice_Site	p.T283_splice	NM_003177	NP_003168	WXS	Illumina GAIIx	Phase_I	P43405	KSYK_HUMAN			7	1052	+			283			Linker.			Splice_Site	SNP	ENST00000375754.4	37	c.847_splice	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901351	0.33535	.	.	ENSG00000165025	ENST00000375754;ENST00000375746	T;T	0.72615	-0.67;-0.67	4.24	3.06	0.35304	.	0.876721	0.09721	N	0.764365	T	0.58779	0.2146	L	0.34521	1.04	0.35160	D	0.770582	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55289	-0.8164	9	.	.	.	.	10.5171	0.44896	0.9207:0.0:0.0793:0.0	.	283;283	P43405;C3W981	KSYK_HUMAN;.	A	283	ENSP00000364907:T283A;ENSP00000364898:T283A	.	T	+	1	0	SYK	92669234	0.711000	0.27906	0.993000	0.49108	0.993000	0.82548	0.998000	0.29744	0.930000	0.37217	0.482000	0.46254	ACT		0.438	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		Missense_Mutation	6	123	0	0	0	1	0	6	123					G	93629413	A	G	93629413	5	3	107	1	0	0	0	0	0	0	1	0	15435	289	10	3	869	3	SYK	9	93629413	Splice_Site	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08		93629413	47584018	22	1879											
C10orf47	254427	broad.mit.edu	37	10	11908732	11908732	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:11908732C>T	ENST00000277570.5	+	3	495	c.341C>T	c.(340-342)gCa>gTa	p.A114V	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000379200.1_5'Flank|PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	114																	GTGCAGCCAGCACCTGGCGCC	0.642																																						uc001ikx.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(340-342)gCa>gTa		Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.							39	36	37					10																	11908732		2203	4300	6503	SO:0001583	missense	254427							g.chr10:11908732C>T	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.341C>T	10.37:g.11908732C>T	ENSP00000277570:p.Ala114Val		Somatic				LOC219731_uc001iky.2_Intron	p.A114V	NM_153256	NP_694988	WXS	Illumina GAIIx	Phase_I	Q86WR7	CJ047_HUMAN			2	495	+			114					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	c.341C>T	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908760	0.33721	.	.	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202	T	0.08282	3.11	5.34	-9.2	0.00682	.	1.758700	0.03164	N	0.169776	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41270	-0.9518	10	0.87932	D	0	-8.1453	5.686	0.17803	0.1278:0.5088:0.093:0.2703	.	114	Q86WR7	CJ047_HUMAN	V	114	ENSP00000277570:A114V	ENSP00000277570:A114V	A	+	2	0	C10orf47	11948738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.566000	0.05922	-1.852000	0.01166	-0.244000	0.11960	GCA		0.642	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		3	83	0	0	0	1	0	3	83					T	11908732	C	T	11908732	3	4	107	1	0	0	0	0	1	0	0	0	1605	710	25	2	347	2	C10orf47	10	11908732	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08		11908732	123626015	23	1880											
C10orf120	399814	broad.mit.edu	37	10	124457437	124457437	+	Missense_Mutation	SNP	G	G	A	rs529409006		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr10:124457437G>A	ENST00000329446.4	-	3	851	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	274										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCGATGGACCGTTCCGGTTTC	0.378													G|||	1	0.000199681	0	0	5008	,	,		20300	0.001		0	False		,,,				2504	0					uc001lgn.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(820-822)Cgg>Tgg		Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.							164	161	162					10																	124457437		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457437G>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.820C>T	10.37:g.124457437G>A	ENSP00000331012:p.Arg274Trp		Somatic					p.R274W	NM_001010912	NP_001010912	WXS	Illumina GAIIx	Phase_I	Q5SQS8	CJ120_HUMAN			2	852	-		all_neural(114;0.169)|Glioma(114;0.222)	274					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.820C>T	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667963	0.47677	.	.	ENSG00000183559	ENST00000329446	T	0.54071	0.59	4.78	-0.958	0.10347	.	0.000000	0.46442	D	0.000291	T	0.62307	0.2417	M	0.64997	1.995	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54456	-0.8291	10	0.66056	D	0.02	-23.7431	7.5466	0.27770	0.0862:0.0:0.2883:0.6255	.	274	Q5SQS8	CJ120_HUMAN	W	274	ENSP00000331012:R274W	ENSP00000331012:R274W	R	-	1	2	C10orf120	124447427	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.264000	0.18497	-0.263000	0.09378	-0.142000	0.14014	CGG		0.378	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		4	211	0	0	0	1	0	4	211					A	124457437	G	A	124457437	3	1	107	1	0	0	0	0	1	0	0	0	1590	1144	40	1	191	1	C10orf120	10	124457437	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	112548705	124457437	11077310	24	1881											
PITPNM1	9600	broad.mit.edu	37	11	67267884	67267884	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:67267884G>C	ENST00000534749.1	-	5	837	c.649C>G	c.(649-651)Cgg>Ggg	p.R217G	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R217G|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R217G			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	217					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGCATCACCCGACGCAGACCT	0.657																																					GBM(28;144 709 4607 5525)	uc001olx.3																			0		p.R217Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(649-651)Cgg>Ggg		Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.							56	61	59					11																	67267884		2199	4285	6484	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267884G>C	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.649C>G	11.37:g.67267884G>C	ENSP00000437286:p.Arg217Gly		Somatic				PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.R217G|PITPNM1_uc001olz.3_Missense_Mutation_p.R217G	p.R217G	NM_004910	NP_004901	WXS	Illumina GAIIx	Phase_I	O00562	PITM1_HUMAN			4	838	-			217					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.649C>G	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844529	0.32606	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.52983	0.64;0.64;0.64	4.02	-2.38	0.06622	START-like domain (1);	0.143236	0.31233	N	0.008004	T	0.58337	0.2115	M	0.79614	2.46	0.28005	N	0.935138	P;P	0.47545	0.706;0.897	B;P	0.53593	0.405;0.73	T	0.64317	-0.6436	10	0.87932	D	0	-30.394	14.641	0.68726	0.0:0.0:0.1896:0.8104	.	217;217	O00562-2;O00562	.;PITM1_HUMAN	G	217	ENSP00000437286:R217G;ENSP00000398787:R217G;ENSP00000348772:R217G	ENSP00000348772:R217G	R	-	1	2	PITPNM1	67024460	0.998000	0.40836	0.286000	0.24833	0.870000	0.49936	2.714000	0.47202	-0.187000	0.10516	0.555000	0.69702	CGG		0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		65	112	0	0	0	1	0	65	112					C	67267884	G	C	67267884	3	2	107	1	0	0	0	0	1	0	0	0	11950	1057	37	4	3161	4	PITPNM1	11	67267884	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		67267884	67738632	25	1882											
GPR83	10888	broad.mit.edu	37	11	94113644	94113644	+	Silent	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr11:94113644G>A	ENST00000243673.2	-	4	1114	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	GPR83_ENST00000539203.2_Silent_p.L273L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	315					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)				TTGCTGGACAGGAGGAGGACG	0.537																																						uc001pet.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(943-945)Ctg>Ttg		Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.							147	112	124					11																	94113644		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113644G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.943C>T	11.37:g.94113644G>A			Somatic					p.L315L	NM_016540	NP_057624	WXS	Illumina GAIIx	Phase_I	Q9NYM4	GPR83_HUMAN			3	1115	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	315					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.943C>T	CCDS8297.1																																																																																				0.537	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		3	169	0	0	0	1	0	3	169					A	94113644	G	A	94113644	2	1	107	1	0	0	0	0	0	0	0	1	6713	991	35	2		2	GPR83	11	94113644	Silent	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	26845760	94113644	40892872	26	1883											
STAT6	6778	broad.mit.edu	37	12	57490363	57490363	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr12:57490363T>A	ENST00000300134.3	-	22	2861	c.2536A>T	c.(2536-2538)Agt>Tgt	p.S846C	STAT6_ENST00000556155.1_Missense_Mutation_p.S846C|STAT6_ENST00000538913.2_Missense_Mutation_p.S736C|STAT6_ENST00000537215.2_Missense_Mutation_p.S736C|STAT6_ENST00000543873.2_Missense_Mutation_p.S846C|STAT6_ENST00000454075.3_Missense_Mutation_p.S846C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	846					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GATCACCAACTGGGGTTGGCC	0.607																																						uc009zpg.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(2683-2685)Agt>Tgt		Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.							111	112	112					12																	57490363		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57490363T>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2536A>T	12.37:g.57490363T>A	ENSP00000300134:p.Ser846Cys		Somatic				STAT6_uc009zpe.3_Missense_Mutation_p.S846C|STAT6_uc001sna.3_Missense_Mutation_p.S846C|STAT6_uc009zpf.3_Missense_Mutation_p.S846C|STAT6_uc010srb.2_Missense_Mutation_p.S736C|STAT6_uc010src.2_Missense_Mutation_p.S736C|STAT6_uc010srd.2_Missense_Mutation_p.S736C	p.S895C	NM_001178081	NP_001171552	WXS	Illumina GAIIx	Phase_I	P42226	STAT6_HUMAN			21	2685	-			846					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2683A>T	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970303	0.74246	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075	D;D;D;D;D;D	0.93953	-3.04;-3.32;-3.04;-3.04;-3.32;-3.04	5.3	5.3	0.74995	.	0.000000	0.56097	D	0.000030	D	0.88448	0.6439	N	0.19112	0.55	0.34089	D	0.660508	D;D	0.56287	0.975;0.975	P;P	0.44647	0.456;0.456	D	0.92417	0.5942	10	0.87932	D	0	-0.8777	11.6407	0.51230	0.0:0.0:0.0:1.0	.	846;846	A8K4S9;P42226	.;STAT6_HUMAN	C	846;736;736;846;846;736;846	ENSP00000300134:S846C;ENSP00000445409:S736C;ENSP00000438451:S846C;ENSP00000451742:S846C;ENSP00000444530:S736C;ENSP00000401486:S846C	ENSP00000300134:S846C	S	-	1	0	STAT6	55776630	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.858000	0.55979	2.007000	0.58848	0.459000	0.35465	AGT		0.607	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		5	292	0	0	0	1	0	5	292					A	57490363	T	A	57490363	3	1	107	1	0	0	0	0	1	0	0	0	15269	1580	55	5	11	5	STAT6	12	57490363	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		57490363	76361532	27	1884											
SPG20	23111	broad.mit.edu	37	13	36903501	36903501	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr13:36903501T>C	ENST00000451493.1	-	4	1379	c.1162A>G	c.(1162-1164)Agg>Ggg	p.R388G	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.R388G|SPG20_ENST00000355182.4_Missense_Mutation_p.R388G|SPG20_ENST00000494062.2_Missense_Mutation_p.R388G	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	388					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTATTTACCCTTTTTCCACGT	0.373																																						uc001uvn.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1162-1164)Agg>Ggg		Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.							319	280	293					13																	36903501		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36903501T>C	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1162A>G	13.37:g.36903501T>C	ENSP00000414147:p.Arg388Gly		Somatic				SPG20_uc010ten.2_Intron|SPG20_uc001uvm.3_Missense_Mutation_p.R388G|SPG20_uc001uvo.3_Missense_Mutation_p.R388G|SPG20_uc001uvq.3_Missense_Mutation_p.R388G|SPG20_uc001uvp.2_Missense_Mutation_p.R388G	p.R388G	NM_001142296	NP_055902	WXS	Illumina GAIIx	Phase_I	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	4	1432	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	388					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1162A>G	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	T	9.931	1.214902	0.22373	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.88664	-2.41;-2.41;-2.41	5.28	5.28	0.74379	.	0.441056	0.25244	N	0.032064	T	0.76814	0.4040	N	0.08118	0	0.28632	N	0.907605	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.65623	-0.6123	10	0.24483	T	0.36	-15.9335	11.5883	0.50931	0.0:0.0:0.0:1.0	.	388;388	B3KMI3;Q8N0X7	.;SPG20_HUMAN	G	388	ENSP00000406061:R388G;ENSP00000347314:R388G;ENSP00000414147:R388G	ENSP00000347314:R388G	R	-	1	2	SPG20	35801501	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	1.288000	0.33296	1.997000	0.58415	0.377000	0.23210	AGG		0.373	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			3	242	0	0	0	1	0	3	242					C	36903501	T	C	36903501	3	2	107	1	0	0	0	0	1	0	0	0	15041	1608	56	3	862	3	SPG20	13	36903501	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		36903501	78266377	28	1885											
MBIP	51562	broad.mit.edu	37	14	36789689	36789689	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:36789689A>C	ENST00000416007.4	-	1	193	c.106T>G	c.(106-108)Tcc>Gcc	p.S36A	MBIP_ENST00000359527.7_Missense_Mutation_p.S36A|MBIP_ENST00000318473.7_Missense_Mutation_p.S36A	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	36					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GTGTGTAGGGAGCGAAAGATT	0.577																																						uc001wtm.2																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(106-108)Tcc>Gcc		Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.							85	74	77					14																	36789689		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36789689A>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.106T>G	14.37:g.36789689A>C	ENSP00000399718:p.Ser36Ala		Somatic				MBIP_uc001wto.2_Missense_Mutation_p.S36A|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.S36A	p.S36A	NM_016586	NP_057670	WXS	Illumina GAIIx	Phase_I	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	0	194	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		36					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.106T>G	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.02|11.02	1.516533|1.516533	0.27123|0.27123	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977;ENST00000553549|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298	.|T;T;T	.|0.39229	.|1.09;1.09;1.09	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.070686	.|0.64402	.|D	.|0.000012	T|T	0.48390|0.48390	0.1497|0.1497	L|L	0.34521|0.34521	1.04|1.04	0.41486|0.41486	D|D	0.988192|0.988192	.|B;D;B	.|0.61697	.|0.007;0.99;0.007	.|B;D;B	.|0.73380	.|0.007;0.98;0.007	T|T	0.31752|0.31752	-0.9932|-0.9932	5|10	.|0.12766	.|T	.|0.61	-10.0349|-10.0349	12.5567|12.5567	0.56257|0.56257	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|36;36;36	.|Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;MBIP1_HUMAN	R|A	32;16|36	.|ENSP00000399718:S36A;ENSP00000324444:S36A;ENSP00000352517:S36A	.|ENSP00000324444:S36A	L|S	-|-	2|1	0|0	MBIP|MBIP	35859440|35859440	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.421000|0.421000	0.31385|0.31385	4.264000|4.264000	0.58859|0.58859	2.247000|2.247000	0.74100|0.74100	0.482000|0.482000	0.46254|0.46254	CTC|TCC		0.577	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		75	93	0	0	0	1	0	75	93					C	36789689	A	C	36789689	3	2	107	1	0	0	0	0	1	0	0	0	9349	304	11	5	964	5	MBIP	14	36789689	Missense_Mutation	SNP	A	TCGA-DJ-A3UN-01A-11D-A22D-08		36789689	70559851	29	1886											
CLEC14A	161198	broad.mit.edu	37	14	38724401	38724401	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:38724401C>T	ENST00000342213.2	-	1	1173	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	276	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGCTCGAAGCCCGTAGCACA	0.667																																						uc001wum.1																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(826-828)gGc>gAc		Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.							58	63	61					14																	38724401		2202	4300	6502	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724401C>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.827G>A	14.37:g.38724401C>T	ENSP00000353013:p.Gly276Asp		Somatic					p.G276D	NM_175060	NP_778230	WXS	Illumina GAIIx	Phase_I	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	0	1174	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		276			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.827G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360040	0.41801	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	D	0.97209	-4.29	3.91	3.91	0.45181	Epidermal growth factor-like (1);	0.000000	0.46758	D	0.000278	D	0.96549	0.8874	L	0.34521	1.04	0.37290	D	0.908229	D	0.76494	0.999	D	0.67382	0.951	D	0.96843	0.9619	10	0.59425	D	0.04	-16.3876	11.7127	0.51635	0.0:1.0:0.0:0.0	.	276	Q86T13	CLC14_HUMAN	D	276;41	ENSP00000353013:G276D	ENSP00000353013:G276D	G	-	2	0	CLEC14A	37794152	1.000000	0.71417	0.939000	0.37840	0.055000	0.15305	4.054000	0.57434	2.498000	0.84270	0.591000	0.81541	GGC		0.667	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		4	173	0	0	0	1	0	4	173					T	38724401	C	T	38724401	3	4	107	1	0	0	0	0	1	0	0	0	3499	739	26	2	649	2	CLEC14A	14	38724401	Missense_Mutation	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	1934712	38724401	68625139	30	1887											
AHNAK2	113146	broad.mit.edu	37	14	105411479	105411479	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr14:105411479G>A	ENST00000333244.5	-	7	10428	c.10309C>T	c.(10309-10311)Ccc>Tcc	p.P3437S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3437						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACGCTGGGCAGAGACACC	0.622																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10309-10311)Ccc>Tcc		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							150	162	158					14																	105411479		1933	4149	6082	SO:0001583	missense	113146					nucleus		g.chr14:105411479G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10309C>T	14.37:g.105411479G>A	ENSP00000353114:p.Pro3437Ser		Somatic				AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3337S	p.P3437S	NM_138420	NP_612429	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	10429	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3437					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10309C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.75	2.926319	0.52759	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	4.46	0.459	0.16678	.	.	.	.	.	T	0.09113	0.0225	H	0.94847	3.59	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.18429	-1.0337	9	0.59425	D	0.04	.	4.2396	0.10642	0.2401:0.0:0.4877:0.2722	.	3437	Q8IVF2	AHNK2_HUMAN	S	3437	ENSP00000353114:P3437S	ENSP00000353114:P3437S	P	-	1	0	AHNAK2	104482524	0.018000	0.18449	0.004000	0.12327	0.032000	0.12392	0.696000	0.25541	0.028000	0.15324	-0.339000	0.08088	CCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	355	0	0	0	1	0	6	355					A	105411479	G	A	105411479	3	1	107	1	0	0	0	0	1	0	0	0	415	1203	42	2	7082	2	AHNAK2	14	105411479	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	66687078	105411479	1938061	31	1888											
HBZ	3050	broad.mit.edu	37	16	202931	202931	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:202931G>A	ENST00000252951.2	+	1	246	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	8					erythrocyte maturation (GO:0043249)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AAGACTGAGAGGACCATCATT	0.632											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cft.1																			0											c.(22-24)aGg>aAg		Homo sapiens hemoglobin, zeta (HBZ), mRNA.							120	68	86					16																	202931		2203	4300	6503	SO:0001583	missense	3050					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:202931G>A	M24173	CCDS10397.1	16p13.3	2014-05-19			ENSG00000130656	ENSG00000130656			4835	protein-coding gene	gene with protein product		142310				2649166	Standard	XM_005255287		Approved	HBZ1, HBZ-T1	uc002cft.1	P02008	OTTHUMG00000059928	ENST00000252951.2:c.23G>A	16.37:g.202931G>A	ENSP00000252951:p.Arg8Lys		Somatic	OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586		p.R8K	NM_005332	NP_005323	WXS	Illumina GAIIx	Phase_I	P02008	HBAZ_HUMAN			0	78	+		all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	8					Q6IBF6	Missense_Mutation	SNP	ENST00000252951.2	37	c.23G>A	CCDS10397.1	.	.	.	.	.	.	.	.	.	.	G	6.373	0.436923	0.12104	.	.	ENSG00000130656	ENST00000252951	D	0.92545	-3.06	4.66	2.41	0.29592	Globin-like (1);Globin, structural domain (1);	0.097389	0.64402	D	0.000002	T	0.70911	0.3278	N	0.01257	-0.925	0.20975	N	0.999817	B	0.06786	0.001	B	0.14023	0.01	T	0.63404	-0.6645	10	0.02654	T	1	-21.3797	6.4225	0.21752	0.3788:0.0:0.6212:0.0	.	8	P02008	HBAZ_HUMAN	K	8	ENSP00000252951:R8K	ENSP00000252951:R8K	R	+	2	0	HBZ	142931	1.000000	0.71417	0.984000	0.44739	0.832000	0.47134	3.809000	0.55606	0.948000	0.37687	0.655000	0.94253	AGG		0.632	HBZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133205.1	NM_005332		3	105	0	0	0	1	0	3	105					A	202931	G	A	202931	3	1	107	1	0	0	0	0	1	0	0	0	6989	1000	35	2	25	2	HBZ	16	202931	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		202931	90151822	32	1889											
METRN	79006	broad.mit.edu	37	16	767142	767142	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr16:767142G>A	ENST00000568223.2	+	4	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	METRN_ENST00000568415.1_Missense_Mutation_p.A80T	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	213					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				TGTGGTGGCCGCCCGTGTCCT	0.662																																						uc002cjd.3																			0				skin(1)	1						c.(637-639)Gcc>Acc		Homo sapiens meteorin, glial cell differentiation regulator (METRN), mRNA.							25	33	30					16																	767142		2178	4286	6464	SO:0001583	missense	79006							g.chr16:767142G>A	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"chromosome 16 open reading frame 23"	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.637G>A	16.37:g.767142G>A	ENSP00000455068:p.Ala213Thr		Somatic				AL360260_uc010bra.2_5'Flank	p.A213T	NM_024042	NP_076947	WXS	Illumina GAIIx	Phase_I	Q9UJH8	METRN_HUMAN			3	754	+		Hepatocellular(780;0.00335)	213					Q9UJH9	Missense_Mutation	SNP	ENST00000568223.2	37	c.637G>A	CCDS10422.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562809	0.27915	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.68	-5.8	0.02347	.	0.426263	0.24983	N	0.034060	T	0.19525	0.0469	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.04825	-1.0924	9	0.35671	T	0.21	.	4.335	0.11081	0.2599:0.1075:0.5344:0.0983	.	213	Q9UJH8	METRN_HUMAN	T	213	.	ENSP00000219542:A213T	A	+	1	0	METRN	707143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.148000	0.10219	-0.744000	0.04778	-0.259000	0.10710	GCC		0.662	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		3	33	0	0	0	1	0	3	33					A	767142	G	A	767142	3	1	107	1	0	0	0	0	1	0	0	0	9488	1087	38	1	651	1	METRN	16	767142	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	564211	767142	89587611	33	1890											
YWHAE	7531	broad.mit.edu	37	17	1264494	1264494	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:1264494T>A	ENST00000264335.8	-	4	737	c.470A>T	c.(469-471)gAt>gTt	p.D157V	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.D135V	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	157					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CATTGCAATATCACTAGCAGC	0.463			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.3				Dom	yes		17	17p13.3	7531	T	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"	yes	Miller-Dieker lissencephaly syndrome	M	"FAM22a, FAM22B"		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(469-471)gAt>gTt		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.							134	127	129					17																	1264494		2203	4300	6503	SO:0001583	missense	7531				G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1264494T>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"14-3-3 epsilon"	605066	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.470A>T	17.37:g.1264494T>A	ENSP00000264335:p.Asp157Val		Somatic				YWHAE_uc002fsk.3_Missense_Mutation_p.D135V|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron	p.D157V	NM_006761	NP_006752	WXS	Illumina GAIIx	Phase_I	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	3	622	-			157					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	c.470A>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497064	0.64186	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.48201	0.82	5.39	5.39	0.77823	14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.55955	0.1953	M	0.86864	2.845	0.80722	D	1	B	0.06786	0.001	B	0.20384	0.029	T	0.60010	-0.7346	10	0.87932	D	0	0.0763	13.4443	0.61131	0.0:0.0:0.0:1.0	.	157	P62258	1433E_HUMAN	V	157;135	ENSP00000264335:D157V	ENSP00000264335:D157V	D	-	2	0	YWHAE	1211244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.992000	0.88273	2.057000	0.61298	0.529000	0.55759	GAT		0.463	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761		10	256	0	0	0	1	0	10	256					A	1264494	T	A	1264494	3	1	107	1	0	0	0	0	1	0	0	0	17499	1435	50	5	309	5	YWHAE	17	1264494	Missense_Mutation	SNP	T	TCGA-DJ-A3UN-01A-11D-A22D-08		1264494	79930716	34	1891											
SUPT6H	6830	broad.mit.edu	37	17	27024968	27024968	+	Silent	SNP	C	C	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:27024968C>T	ENST00000314616.6	+	32	4651	c.4368C>T	c.(4366-4368)acC>acT	p.T1456T	SUPT6H_ENST00000347486.4_Silent_p.T1456T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1456					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAAGCCCACCTTCATCCCTT	0.522																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4366-4368)acC>acT		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							100	95	97					17																	27024968		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	g.chr17:27024968C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4368C>T	17.37:g.27024968C>T			Somatic				SUPT6H_uc002hby.3_Silent_p.T1456T	p.T1456T	NM_003170	NP_003161	WXS	Illumina GAIIx	Phase_I	Q7KZ85	SPT6H_HUMAN			32	4560	+	Lung NSC(42;0.00431)		1456					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.4368C>T	CCDS32596.1																																																																																				0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		27	60	0	0	0	1	0	27	60					T	27024968	C	T	27024968	2	4	107	1	0	0	0	0	0	0	0	1	15397	668	24	2		2	SUPT6H	17	27024968	Silent	SNP	C	TCGA-DJ-A3UN-01A-11D-A22D-08	25760474	27024968	54170242	35	1892											
TK1	7083	broad.mit.edu	37	17	76178724	76178724	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr17:76178724G>T	ENST00000301634.7	-	4	487	c.249C>A	c.(247-249)gaC>gaA	p.D83E	TK1_ENST00000590862.1_Missense_Mutation_p.D83E|TK1_ENST00000590430.1_Intron|TK1_ENST00000405273.1_Missense_Mutation_p.D83E|TK1_ENST00000588734.1_Missense_Mutation_p.D83E	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	83					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	CCTGGGCCACGTCTCGGAGCA	0.632																																						uc002juw.2																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(247-249)gaC>gaA		Homo sapiens thymidine kinase 1, soluble (TK1), mRNA.							54	35	41					17																	76178724		2202	4298	6500	SO:0001583	missense	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76178724G>T		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.249C>A	17.37:g.76178724G>T	ENSP00000301634:p.Asp83Glu		Somatic					p.D83E	NM_003258	NP_003249	WXS	Illumina GAIIx	Phase_I	P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		3	459	-			83					B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	37	c.249C>A	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318349	0.23994	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.48	-6.15	0.02105	.	0.047074	0.85682	D	0.000000	T	0.34600	0.0903	N	0.11724	0.165	0.41698	D	0.989387	B;B	0.11235	0.004;0.002	B;B	0.18561	0.022;0.022	T	0.01639	-1.1306	9	0.39692	T	0.17	-25.073	16.5321	0.84364	0.6796:0.0:0.3204:0.0	.	83;83	B5BU32;P04183	.;KITH_HUMAN	E	83	.	ENSP00000301634:D83E	D	-	3	2	TK1	73690319	0.003000	0.15002	0.019000	0.16419	0.845000	0.48019	-1.049000	0.03514	-1.031000	0.03308	-0.259000	0.10710	GAC		0.632	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		11	10	0	0	0	1	0	11	10					T	76178724	G	T	76178724	3	4	107	1	0	0	0	0	1	0	0	0	15929	1136	40	4	471	4	TK1	17	76178724	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08	49153756	76178724	5016486	36	1893											
GRIN2D	2906	broad.mit.edu	37	19	48917682	48917682	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr19:48917682G>C	ENST00000263269.3	+	5	1341	c.1253G>C	c.(1252-1254)cGc>cCc	p.R418P		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	418					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGTGGTCCCGCTATGGTCGC	0.627																																						uc002pjc.4																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1252-1254)cGc>cCc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						39	35	36					19																	48917682		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48917682G>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1253G>C	19.37:g.48917682G>C	ENSP00000263269:p.Arg418Pro		Somatic					p.R418P	NM_000836	NP_000827	WXS	Illumina GAIIx	Phase_I	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	4	1341	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	418						Missense_Mutation	SNP	ENST00000263269.3	37	c.1253G>C	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498361	0.85069	.	.	ENSG00000105464	ENST00000263269	T	0.07908	3.15	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.82823	2.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.16778	-1.0391	10	0.72032	D	0.01	.	16.0927	0.81102	0.0:0.0:1.0:0.0	.	418	O15399	NMDE4_HUMAN	P	418	ENSP00000263269:R418P	ENSP00000263269:R418P	R	+	2	0	GRIN2D	53609494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.413000	0.81919	0.561000	0.74099	CGC		0.627	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			6	19	0	0	0	1	0	6	19					C	48917682	G	C	48917682	3	2	107	1	0	0	0	0	1	0	0	0	6782	1087	38	4	1267	4	GRIN2D	19	48917682	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		48917682	10211301	37	1894											
MX2	4600	broad.mit.edu	37	21	42748992	42748992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chr21:42748992delG	ENST00000330714.3	+	2	343	c.159delG	c.(157-159)gagfs	p.E53fs	MX2_ENST00000543692.1_Frame_Shift_Del_p.E53fs	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	53					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGGGGCAGAGAAGGACGCTG	0.512																																						uc002yzf.1																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(157-159)gagfs		Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.							98	105	103					21																	42748992		2203	4300	6503	SO:0001589	frameshift_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748992delG		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.159delG	21.37:g.42748992delG	ENSP00000333657:p.Glu53fs		Somatic				MX2_uc011aer.1_Non-coding_Transcript	p.E53fs	NM_002463	NP_002454	WXS	Illumina GAIIx	Phase_I	P20592	MX2_HUMAN			1	263	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	53					B7Z5D3|D3DSI7	Frame_Shift_Del	DEL	ENST00000330714.3	37	c.159delG	CCDS13672.1																																																																																				0.512	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		85	157						85	157	---	---	---	---	-	42748992	G	-	42748992	7	5	107	1	0	1	0	1	0	0	0	0	9998	933	33	0	161	0	MX2	21	42748992	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UN-01A-11D-A22D-08		42748992	5380903	38	1895											
MAGEB4	4115	broad.mit.edu	37	X	30261042	30261042	+	Missense_Mutation	SNP	G	G	A	rs148704670		TCGA-DJ-A3UN-01A-11D-A22D-08	TCGA-DJ-A3UN-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	846cfbd3-90a5-4733-807b-548974509cf4	d1d13d47-38ae-4c31-9a3c-7d4f05d3457e	g.chrX:30261042G>A	ENST00000378982.2	+	1	986	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GCCCAACAGTGATCCCCCACG	0.502																																						uc004dcb.3																			0		p.S263R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(790-792)Gat>Aat		Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.							70	66	67					X																	30261042		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261042G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.790G>A	X.37:g.30261042G>A	ENSP00000368266:p.Asp264Asn		Somatic				MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	p.D264N	NM_002367	NP_002358	WXS	Illumina GAIIx	Phase_I	O15481	MAGB4_HUMAN			0	986	+			264			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.790G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399172	0.42512	.	.	ENSG00000120289	ENST00000378982	T	0.05319	3.46	3.31	-1.83	0.07833	.	0.236971	0.32473	U	0.006042	T	0.12390	0.0301	M	0.62088	1.915	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.09335	-1.0679	10	0.39692	T	0.17	.	4.2094	0.10503	0.4861:0.1803:0.3336:0.0	.	264	O15481	MAGB4_HUMAN	N	264	ENSP00000368266:D264N	ENSP00000368266:D264N	D	+	1	0	MAGEB4	30170963	0.055000	0.20627	0.003000	0.11579	0.018000	0.09664	0.029000	0.13666	-0.643000	0.05473	-0.208000	0.12717	GAT		0.502	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		3	70	0	0	0	1	0	3	70					A	30261042	G	A	30261042	3	1	107	1	0	0	0	0	1	0	0	0	9178	1290	45	2	792	2	MAGEB4	23	30261042	Missense_Mutation	SNP	G	TCGA-DJ-A3UN-01A-11D-A22D-08		30261042	125009518	39	1896											
ETNK2	55224	broad.mit.edu	37	1	204115853	204115853	+	Silent	SNP	G	G	A	rs139650333		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr1:204115853G>A	ENST00000367202.4	-	3	708	c.558C>T	c.(556-558)caC>caT	p.H186H	ETNK2_ENST00000367201.3_Silent_p.H186H|ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Silent_p.H8H	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	186					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.H186H(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCGTTGGCGTGGATAGTAT	0.498																																						uc001han.4																			1	Substitution - coding silent(1)	p.H186H(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(556-558)caC>caT		Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	151	129	136		558	-4.5	0.9	1	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	ETNK2	NM_018208.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/387	204115853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204115853G>A	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.558C>T	1.37:g.204115853G>A			Somatic				ETNK2_uc010pqr.2_Silent_p.H8H|ETNK2_uc001hao.4_Silent_p.H186H|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Silent_p.H8H	p.H186H			WXS	Illumina GAIIx	Phase_I	Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	885	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		186					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Silent	SNP	ENST00000367202.4	37	c.558C>T	CCDS1442.2																																																																																				0.498	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		4	114	0	0	0	1	0	4	114					A	204115853	G	A	204115853	2	1	108	1	0	0	0	0	0	0	0	1	5274	1136	40	1		1	ETNK2	1	204115853	Silent	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08		204115853	45134768	1	1897											
LRP2	4036	broad.mit.edu	37	2	169995788	169995788	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:169995788A>G	ENST00000263816.3	-	74	13646	c.13361T>C	c.(13360-13362)cTt>cCt	p.L4454P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4454					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)"	AGCAGGCAAAAGGGAGCCGGT	0.468																																						uc002ues.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.(13360-13362)cTt>cCt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						77	81	80					2																	169995788		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	SH3 domain binding|calcium ion binding|receptor activity	g.chr2:169995788A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13361T>C	2.37:g.169995788A>G	ENSP00000263816:p.Leu4454Pro		Somatic					p.L4454P	NM_004525	NP_004516	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	73	13574	-			4454					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13361T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447890	0.84101	.	.	ENSG00000081479	ENST00000263816	D	0.90620	-2.7	5.53	5.53	0.82687	.	0.179582	0.50627	D	0.000117	D	0.90549	0.7038	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.62491	0.903	D	0.90092	0.4178	10	0.33940	T	0.23	.	15.6705	0.77270	1.0:0.0:0.0:0.0	.	4454	P98164	LRP2_HUMAN	P	4454	ENSP00000263816:L4454P	ENSP00000263816:L4454P	L	-	2	0	LRP2	169704034	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.495000	0.90481	2.106000	0.64143	0.455000	0.32223	CTT		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	90	0	0	0	1	0	4	90					G	169995788	A	G	169995788	3	3	108	1	0	0	0	0	1	0	0	0	8956	72	3	3	630	3	LRP2	2	169995788	Missense_Mutation	SNP	A	TCGA-DJ-A3UO-01A-11D-A22D-08		169995788	73203585	2	1898											
ZNF142	7701	broad.mit.edu	37	2	219503377	219503377	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:219503377G>C	ENST00000449707.1	-	10	5170	c.4749C>G	c.(4747-4749)caC>caG	p.H1583Q	ZNF142_ENST00000411696.2_Missense_Mutation_p.H1583Q	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1583					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCTTGCGAAGGTGGGTGCGCA	0.622																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4747-4749)caC>caG		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.							57	63	61					2																	219503377		2181	4274	6455	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503377G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4749C>G	2.37:g.219503377G>C	ENSP00000408643:p.His1583Gln		Somatic				ZNF142_uc002vil.3_Missense_Mutation_p.H1544Q|ZNF142_uc010fvt.3_Missense_Mutation_p.H1420Q|ZNF142_uc002vim.3_Missense_Mutation_p.H1420Q	p.H1583Q	NM_001105537	NP_001099007	WXS	Illumina GAIIx	Phase_I	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5185	-		Renal(207;0.0474)	1583					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4749C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678190	0.68042	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	D;D	0.99974	-10.2;-10.2	6.01	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.96365	3.81	0.43559	D	0.99587	P;P	0.52316	0.952;0.952	P;P	0.57911	0.816;0.829	D	0.95485	0.8564	10	0.87932	D	0	-35.5354	11.7252	0.51706	0.1707:0.0:0.8293:0.0	.	1583;1420	P52746;A8MWU9	ZN142_HUMAN;.	Q	1583	ENSP00000408643:H1583Q;ENSP00000398798:H1583Q	ENSP00000398798:H1583Q	H	-	3	2	ZNF142	219211621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.738000	0.55067	0.397000	0.25310	-0.320000	0.08662	CAC		0.622	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		28	61	0	0	0	1	0	28	61					C	219503377	G	C	219503377	3	2	108	1	0	0	0	0	1	0	0	0	17728	1252	44	4	318	4	ZNF142	2	219503377	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	49507589	219503377	23695996	3	1899											
ECEL1	9427	broad.mit.edu	37	2	233348844	233348844	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr2:233348844G>A	ENST00000304546.1	-	7	1484	c.1274C>T	c.(1273-1275)gCa>gTa	p.A425V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A425V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	425					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATCTCCTGTGCCAGCTCGTG	0.647																																						uc002vsv.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1273-1275)gCa>gTa		Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.							50	51	51					2																	233348844		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233348844G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1274C>T	2.37:g.233348844G>A	ENSP00000302051:p.Ala425Val		Somatic				ECEL1_uc010fya.1_Missense_Mutation_p.A425V|ECEL1_uc010fyb.1_Missense_Mutation_p.A132V	p.A425V	NM_004826	NP_004817	WXS	Illumina GAIIx	Phase_I	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	1479	-		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)	425					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1274C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713077	0.30413	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73789	-0.78;-0.78	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.057395	0.64402	D	0.000001	T	0.66616	0.2807	N	0.19112	0.55	0.51482	D	0.999925	B;B	0.30542	0.127;0.284	B;B	0.36719	0.047;0.231	T	0.63386	-0.6649	10	0.30854	T	0.27	-31.7905	19.0163	0.92896	0.0:0.0:1.0:0.0	.	425;425	O95672-2;O95672	.;ECEL1_HUMAN	V	425	ENSP00000302051:A425V;ENSP00000386333:A425V	ENSP00000302051:A425V	A	-	2	0	ECEL1	233057088	1.000000	0.71417	0.951000	0.38953	0.108000	0.19459	9.869000	0.99810	2.503000	0.84419	0.557000	0.71058	GCA		0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		42	67	0	0	0	1	0	42	67					A	233348844	G	A	233348844	3	1	108	1	0	0	0	0	1	0	0	0	4891	1319	46	2	1101	2	ECEL1	2	233348844	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	13845467	233348844	9850529	4	1900											
ENPP6	133121	broad.mit.edu	37	4	185012454	185012454	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr4:185012454G>A	ENST00000296741.2	-	8	1340	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	400					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTGGGCAGCGGGGTGATGCC	0.587																																						uc003iwc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1198-1200)cCg>cTg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.							100	95	97					4																	185012454		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012454G>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1199C>T	4.37:g.185012454G>A	ENSP00000296741:p.Pro400Leu		Somatic					p.P400L	NM_153343	NP_699174	WXS	Illumina GAIIx	Phase_I	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	7	1341	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	400					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1199C>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850704	0.71719	.	.	ENSG00000164303	ENST00000296741	T	0.80033	-1.33	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93290	0.6667	10	0.87932	D	0	-31.513	20.2825	0.98528	0.0:0.0:1.0:0.0	.	400	Q6UWR7	ENPP6_HUMAN	L	400	ENSP00000296741:P400L	ENSP00000296741:P400L	P	-	2	0	ENPP6	185249448	1.000000	0.71417	0.613000	0.29037	0.104000	0.19210	9.144000	0.94629	2.894000	0.99253	0.591000	0.81541	CCG		0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		61	130	0	0	0	1	0	61	130					A	185012454	G	A	185012454	3	1	108	1	0	0	0	0	1	0	0	0	5134	1116	39	1	127	1	ENPP6	4	185012454	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08		185012454	6141822	5	1901											
TAPBP	6892	broad.mit.edu	37	6	33272093	33272093	+	Silent	SNP	C	C	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:33272093C>T	ENST00000489157.1	-	4	1142	c.930G>A	c.(928-930)gaG>gaA	p.E310E	TAPBP_ENST00000426633.2_Silent_p.E397E|TAPBP_ENST00000475304.1_Silent_p.E415E|TAPBP_ENST00000456592.2_Silent_p.E397E|TAPBP_ENST00000434618.2_Silent_p.E397E			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	397	Ig-like C1-type.				amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CCAGGGTGACCTCAGCGCTGC	0.642																																						uc003odz.3																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(1189-1191)gaG>gaA		Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 2, mRNA.							49	51	50					6																	33272093		2203	4300	6503	SO:0001819	synonymous_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding	g.chr6:33272093C>T	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.930G>A	6.37:g.33272093C>T			Somatic				TAPBP_uc003odx.2_Silent_p.E397E|TAPBP_uc010jut.2_Silent_p.E310E|TAPBP_uc003ody.3_3'UTR|TAPBP_uc011drc.2_Silent_p.E397E	p.E397E	NM_172208	NP_757345	WXS	Illumina GAIIx	Phase_I	O15533	TPSN_HUMAN			4	1537	-			397			Ig-like C1-type.		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Silent	SNP	ENST00000489157.1	37	c.1191G>A	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315690	0.10789	.	.	ENSG00000231925	ENST00000458089	.	.	.	5.57	-0.785	0.10950	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.32798	-0.9893	5	0.87932	D	0	-7.2454	5.2721	0.15630	0.0:0.4141:0.1419:0.444	.	.	.	.	K	152	.	ENSP00000406838:R152K	R	-	2	0	TAPBP	33380071	0.006000	0.16342	0.012000	0.15200	0.924000	0.55760	-0.264000	0.08658	-0.512000	0.06505	0.549000	0.68633	AGG		0.642	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			52	88	0	0	0	1	0	52	88					T	33272093	C	T	33272093	2	4	108	1	0	0	0	0	0	0	0	1	15549	680	24	2		2	TAPBP	6	33272093	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		33272093	137842974	6	1902											
SLC22A16	85413	broad.mit.edu	37	6	110746110	110746110	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:110746110G>C	ENST00000368919.3	-	8	1766	c.1700C>G	c.(1699-1701)gCg>gGg	p.A567G	SLC22A16_ENST00000330550.4_Missense_Mutation_p.A533G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	567					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GGGGGTAATCGCTTCCGTTTT	0.423																																						uc003puf.3																			0		p.A567A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1699-1701)gCg>gGg		Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.							149	140	143					6																	110746110		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746110G>C		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1700C>G	6.37:g.110746110G>C	ENSP00000357915:p.Ala567Gly		Somatic				SLC22A16_uc003pue.3_Missense_Mutation_p.A548G	p.A567G	NM_033125	NP_149116	WXS	Illumina GAIIx	Phase_I	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	7	1767	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	567					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.1700C>G	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827903	0.16749	.	.	ENSG00000004809	ENST00000368919;ENST00000330550	T;T	0.69040	-0.16;-0.37	4.96	-0.224	0.13115	.	6.532570	0.00166	N	0.000000	T	0.26774	0.0655	N	0.08118	0	0.09310	N	1	P;P	0.45768	0.789;0.866	B;B	0.43331	0.237;0.416	T	0.12553	-1.0543	10	0.23302	T	0.38	.	7.7078	0.28661	0.6332:0.0:0.3668:0.0	.	567;533	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	G	567;533	ENSP00000357915:A567G;ENSP00000328583:A533G	ENSP00000328583:A533G	A	-	2	0	SLC22A16	110852803	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.565000	0.23578	-0.206000	0.10203	-0.229000	0.12294	GCG		0.423	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		78	113	0	0	0	1	0	78	113					C	110746110	G	C	110746110	3	2	108	1	0	0	0	0	1	0	0	0	14447	1087	38	4	37	4	SLC22A16	6	110746110	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	77474017	110746110	60368957	7	1903											
SAMD5	389432	broad.mit.edu	37	6	147830172	147830172	+	Silent	SNP	C	C	A	rs373282999	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr6:147830172C>A	ENST00000367474.1	+	1	110	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	36	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GCAAGCAGATCGGGGACCCGG	0.667													C|||	4	0.000798722	0	0	5008	,	,		7928	0		0	False		,,,				2504	0.0041					uc003qmc.2																			0											c.(106-108)atC>atA		Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.							42	40	41					6																	147830172		2203	4300	6503	SO:0001819	synonymous_variant	389432							g.chr6:147830172C>A	AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"Sterile alpha motif (SAM) domain containing"	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.108C>A	6.37:g.147830172C>A			Somatic					p.I36I	NM_001030060	NP_001025231	WXS	Illumina GAIIx	Phase_I	Q5TGI4	SAMD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)	0	345	+		Ovarian(120;0.0907)	36			SAM.			Silent	SNP	ENST00000367474.1	37	c.108C>A	CCDS34548.1																																																																																				0.667	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060		11	70	0	0	0	1	0	11	70					A	147830172	C	A	147830172	2	1	108	1	0	0	0	0	0	0	0	1	13823	874	31	4		4	SAMD5	6	147830172	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	37084062	147830172	23284895	8	1904											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	43	0	0	0	1	0	27	43					T	140453136	A	T	140453136	3	4	108	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UO-01A-11D-A22D-08		140453136	18685527	9	1905											
FAM55B	120406	broad.mit.edu	37	11	114569205	114569205	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr11:114569205C>G	ENST00000389586.4	+	3	761	c.571C>G	c.(571-573)Ctg>Gtg	p.L191V	NXPE2_ENST00000375475.5_Missense_Mutation_p.L191V	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	191						integral component of membrane (GO:0016021)											TTCCCTGTCTCTGCTGCTCAT	0.537																																						uc009yyy.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						c.(571-573)Ctg>Gtg		Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.							92	102	99					11																	114569205		692	1591	2283	SO:0001583	missense	120406					integral to membrane		g.chr11:114569205C>G	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.571C>G	11.37:g.114569205C>G	ENSP00000374237:p.Leu191Val		Somatic					p.L191V	NM_182495	NP_872301	WXS	Illumina GAIIx	Phase_I	Q96DL1	FA55B_HUMAN			2	669	+			191					Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.571C>G	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	C	4.689	0.128170	0.08981	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.08720	3.57;3.06	4.66	-6.61	0.01818	Immunoglobulin E-set (1);	1.685130	0.03965	N	0.290589	T	0.04003	0.0112	N	0.04132	-0.27	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.48246	-0.9052	10	0.02654	T	1	.	17.5256	0.87799	0.0956:0.1602:0.7441:0.0	.	191	Q96DL1	FA55B_HUMAN	V	191	ENSP00000374237:L191V;ENSP00000364624:L191V	ENSP00000364624:L191V	L	+	1	2	FAM55B	114074415	0.000000	0.05858	0.025000	0.17156	0.961000	0.63080	-2.489000	0.00976	-1.163000	0.02793	-0.282000	0.10007	CTG		0.537	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		3	47	0	0	0	1	0	3	47					G	114569205	C	G	114569205	3	3	108	1	0	0	0	0	1	0	0	0	5585	912	32	4	581	4	FAM55B	11	114569205	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		114569205	20437311	10	1906											
KCNA5	3741	broad.mit.edu	37	12	5154100	5154100	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr12:5154100T>G	ENST00000252321.3	+	1	1016	c.787T>G	c.(787-789)Tcc>Gcc	p.S263A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	263					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)			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)	TATCCTCATCTCCATCATCAC	0.642																																						uc001qni.3																			0				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.(787-789)Tcc>Gcc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.							108	114	112					12																	5154100		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154100T>G	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.787T>G	12.37:g.5154100T>G	ENSP00000252321:p.Ser263Ala		Somatic					p.S263A	NM_002234	NP_002225	WXS	Illumina GAIIx	Phase_I	P22460	KCNA5_HUMAN			0	1016	+			263					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.787T>G	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938397	0.73557	.	.	ENSG00000130037	ENST00000252321	T	0.69561	-0.41	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	T	0.81791	0.4897	M	0.90542	3.125	0.80722	D	1	D	0.56287	0.975	P	0.58210	0.835	D	0.86101	0.1556	10	0.87932	D	0	.	13.6401	0.62246	0.0:0.0:0.0:1.0	.	263	P22460	KCNA5_HUMAN	A	263	ENSP00000252321:S263A	ENSP00000252321:S263A	S	+	1	0	KCNA5	5024361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.799000	0.85936	2.007000	0.58848	0.459000	0.35465	TCC		0.642	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		35	258	0	0	0	1	0	35	258					G	5154100	T	G	5154100	3	3	108	1	0	0	0	0	1	0	0	0	8006	1551	54	5	789	5	KCNA5	12	5154100	Missense_Mutation	SNP	T	TCGA-DJ-A3UO-01A-11D-A22D-08		5154100	128697795	11	1907											
ZNF263	10127	broad.mit.edu	37	16	3339612	3339612	+	Missense_Mutation	SNP	C	C	T	rs541895788	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr16:3339612C>T	ENST00000219069.5	+	6	1982	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L	ZNF263_ENST00000538765.1_Missense_Mutation_p.P17L|ZNF263_ENST00000574253.1_Nonsense_Mutation_p.R203*	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	369					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGGGGCGACCGAAGGAACTG	0.532													C|||	2	0.000399361	0	0	5008	,	,		19165	0		0	False		,,,				2504	0.002					uc002cuq.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(1105-1107)cCg>cTg		Homo sapiens zinc finger protein 263 (ZNF263), mRNA.							55	53	54					16																	3339612		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339612C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1106C>T	16.37:g.3339612C>T	ENSP00000219069:p.Pro369Leu		Somatic				ZNF263_uc010uww.2_Missense_Mutation_p.P17L|ZNF263_uc002cur.2_Missense_Mutation_p.P17L	p.P369L	NM_005741	NP_005732	WXS	Illumina GAIIx	Phase_I	O14978	ZN263_HUMAN			5	1438	+			369					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1106C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417524	0.62622	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.05996	3.36;3.46	5.84	3.73	0.42828	.	0.682009	0.13481	N	0.384684	T	0.03095	0.0091	N	0.08118	0	0.37786	D	0.927202	B	0.32731	0.382	B	0.19666	0.026	T	0.53878	-0.8376	10	0.21014	T	0.42	.	10.8049	0.46512	0.3439:0.6561:0.0:0.0	.	369	O14978	ZN263_HUMAN	L	17;369	ENSP00000444497:P17L;ENSP00000219069:P369L	ENSP00000219069:P369L	P	+	2	0	ZNF263	3279613	0.442000	0.25633	0.140000	0.22221	0.007000	0.05969	2.314000	0.43743	1.423000	0.47198	0.655000	0.94253	CCG		0.532	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			33	37	0	0	0	1	0	33	37					T	3339612	C	T	3339612	3	4	108	1	0	0	0	0	1	0	0	0	17800	652	23	1	1128	1	ZNF263	16	3339612	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		3339612	87015141	12	1908											
OR3A3	8392	broad.mit.edu	37	17	3324444	3324444	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:3324444C>A	ENST00000291231.1	+	1	583	c.583C>A	c.(583-585)Cag>Aag	p.Q195K		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	195					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)|large_intestine(3)|lung(3)|prostate(1)	9						ACAGCTCTTCCAGCTCTCCTG	0.552																																						uc010vrd.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(583-585)Cag>Aag		Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.							75	72	73					17																	3324444		2203	4298	6501	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324444C>A	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.583C>A	17.37:g.3324444C>A	ENSP00000291231:p.Gln195Lys		Somatic					p.Q195K	NM_012373	NP_036505	WXS	Illumina GAIIx	Phase_I	P47888	OR3A3_HUMAN			0	583	+			195					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.583C>A	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	0.044	-1.272735	0.01421	.	.	ENSG00000159961	ENST00000291231	T	0.00016	9.12	2.52	0.365	0.16131	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.01019	-1.045	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.23332	-1.0191	9	0.02654	T	1	.	4.2322	0.10608	0.5327:0.3393:0.0:0.1279	.	195	P47888	OR3A3_HUMAN	K	195	ENSP00000291231:Q195K	ENSP00000291231:Q195K	Q	+	1	0	OR3A3	3271194	0.000000	0.05858	0.966000	0.40874	0.992000	0.81027	-0.140000	0.10342	0.116000	0.18110	0.650000	0.86243	CAG		0.552	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			56	90	0	0	0	1	0	56	90					A	3324444	C	A	3324444	3	1	108	1	0	0	0	0	1	0	0	0	11039	595	21	4	585	4	OR3A3	17	3324444	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		3324444	77870766	13	1909											
ALOX12	239	broad.mit.edu	37	17	6908626	6908626	+	Silent	SNP	G	G	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:6908626G>T	ENST00000251535.6	+	9	1265	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R	AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	404	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCCGGGCCCGGACCCAACTCA	0.552											OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gdx.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1210-1212)cgG>cgT		Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.							148	155	152					17																	6908626		2203	4300	6503	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6908626G>T	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1212G>T	17.37:g.6908626G>T			Somatic	OREG0024126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	637	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron	p.R404R	NM_000697	NP_000688	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			8	1265	+			404			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.1212G>T	CCDS11084.1																																																																																				0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	534	0	0	0	1	0	7	534					T	6908626	G	T	6908626	2	4	108	1	0	0	0	0	0	0	0	1	536	1161	41	4		4	ALOX12	17	6908626	Silent	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	3584182	6908626	74286584	14	1910											
KRBA2	124751	broad.mit.edu	37	17	8273458	8273458	+	Missense_Mutation	SNP	C	C	A	rs139656920	byFrequency	TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:8273458C>A	ENST00000331336.2	-	2	478	c.473G>T	c.(472-474)cGt>cTt	p.R158L	RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.R76L	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	158					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TTTTGCTGCACGGCGATAATC	0.378																																						uc002glf.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(472-474)cGt>cTt		Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.							249	225	233					17																	8273458		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273458C>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"-"	26989	protein-coding gene	gene with protein product			"KRAB A domain containing 2"			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.473G>T	17.37:g.8273458C>A	ENSP00000328017:p.Arg158Leu		Somatic				KRBA2_uc002glg.1_Missense_Mutation_p.R75L	p.R158L	NM_213597	NP_998762	WXS	Illumina GAIIx	Phase_I	Q6ZNG9	KRBA2_HUMAN			1	479	-			158					Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.473G>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	C	8.763	0.924057	0.18056	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.21543	2.04;2.0	2.4	0.321	0.15883	.	.	.	.	.	T	0.12817	0.0311	N	0.24115	0.695	0.23346	N	0.997866	B	0.18968	0.032	B	0.12837	0.008	T	0.26326	-1.0106	9	0.49607	T	0.09	.	6.7159	0.23302	0.0:0.7366:0.0:0.2634	.	158	Q6ZNG9	KRBA2_HUMAN	L	76;158	ENSP00000379565:R76L;ENSP00000328017:R158L	ENSP00000328017:R158L	R	-	2	0	KRBA2	8214183	0.005000	0.15991	0.526000	0.27913	0.619000	0.37552	-0.005000	0.12855	0.130000	0.18549	0.550000	0.68814	CGT		0.378	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		35	204	0	0	0	1	0	35	204					A	8273458	C	A	8273458	3	1	108	1	0	0	0	0	1	0	0	0	8440	536	19	4	1009	4	KRBA2	17	8273458	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	1364832	8273458	72921752	15	1911											
ACLY	47	broad.mit.edu	37	17	40024146	40024146	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:40024146C>A	ENST00000352035.2	-	29	3353	c.3223G>T	c.(3223-3225)Gat>Tat	p.D1075Y	ACLY_ENST00000393896.2_Missense_Mutation_p.D1065Y|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000537919.1_Missense_Mutation_p.D804Y|ACLY_ENST00000590151.1_Missense_Mutation_p.D1075Y|KLHL11_ENST00000319121.3_5'Flank|ACLY_ENST00000353196.1_Missense_Mutation_p.D1065Y	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1075					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCTTCTGATCAAGATAGTGT	0.433																																					Colon(64;807 1396 15971 30971)	uc002hyi.3																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(3385-3387)Gat>Tat		Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.							134	122	126					17																	40024146		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40024146C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3223G>T	17.37:g.40024146C>A	ENSP00000253792:p.Asp1075Tyr		Somatic				KLHL11_uc002hyf.1_5'Flank|ACLY_uc002hyg.3_Missense_Mutation_p.D1075Y|ACLY_uc002hyh.3_Missense_Mutation_p.D1065Y|ACLY_uc010wfx.2_Missense_Mutation_p.D1119Y|ACLY_uc010wfy.2_Missense_Mutation_p.D804Y	p.D1129Y	NM_001096	NP_001087	WXS	Illumina GAIIx	Phase_I	P53396	ACLY_HUMAN			28	3390	-		Breast(137;0.000143)	1075					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.3385G>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	-	23.5	4.418587	0.83559	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.91740	-2.0;-1.99;-2.9;-1.99	5.95	4.93	0.64822	Citrate synthase-like, core (1);	0.101533	0.64402	D	0.000004	D	0.96907	0.8990	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.947;0.977;0.977;0.994;0.964	D	0.97451	1.0028	10	0.87932	D	0	.	16.6515	0.85203	0.0:0.8704:0.1296:0.0	.	804;1119;1129;1065;1075	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	Y	1075;1129;1065;804;1065	ENSP00000253792:D1075Y;ENSP00000345398:D1065Y;ENSP00000445349:D804Y;ENSP00000377474:D1065Y	ENSP00000253792:D1075Y	D	-	1	0	ACLY	37277672	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.993000	0.70616	2.821000	0.97095	0.650000	0.86243	GAT		0.433	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		3	89	0	0	0	1	0	3	89					A	40024146	C	A	40024146	3	1	108	1	0	0	0	0	1	0	0	0	143	826	29	4	86	4	ACLY	17	40024146	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	31750688	40024146	41171064	16	1912											
EFTUD2	9343	broad.mit.edu	37	17	42941058	42941058	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:42941058C>T	ENST00000426333.2	-	15	1675	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EFTUD2_ENST00000591382.1_Missense_Mutation_p.D460N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D425N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D450N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	460					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCGCCGAGGTCGGAGTCCACA	0.552																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1378-1380)Gac>Aac		Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.							123	96	106					17																	42941058		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42941058C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1378G>A	17.37:g.42941058C>T	ENSP00000392094:p.Asp460Asn		Somatic				EFTUD2_uc010wje.1_Missense_Mutation_p.D425N|EFTUD2_uc010wjf.1_Missense_Mutation_p.D450N	p.D460N	NM_004247	NP_001136077	WXS	Illumina GAIIx	Phase_I	Q15029	U5S1_HUMAN			14	1639	-		Prostate(33;0.109)	460					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1378G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785628	0.70337	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.80214	-1.35;-1.35	6.04	6.04	0.98038	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.044050	0.85682	D	0.000000	T	0.76579	0.4007	L	0.38175	1.15	0.80722	D	1	B;B	0.15719	0.014;0.014	B;B	0.11329	0.006;0.006	T	0.68743	-0.5328	10	0.48119	T	0.1	-10.6099	20.5792	0.99380	0.0:1.0:0.0:0.0	.	450;460	B4DMC0;Q15029	.;U5S1_HUMAN	N	460;450;425	ENSP00000392094:D460N;ENSP00000385873:D425N	ENSP00000262414:D450N	D	-	1	0	EFTUD2	40296584	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.453000	0.80700	2.873000	0.98535	0.561000	0.74099	GAC		0.552	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		4	141	0	0	0	1	0	4	141					T	42941058	C	T	42941058	3	4	108	1	0	0	0	0	1	0	0	0	4961	884	31	1	1596	1	EFTUD2	17	42941058	Missense_Mutation	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08	2916912	42941058	38254152	17	1913											
CCDC40	55036	broad.mit.edu	37	17	78073390	78073390	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr17:78073390G>A	ENST00000397545.4	+	20	3272	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H	GAA_ENST00000390015.3_5'Flank|GAA_ENST00000302262.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1082					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGAGGGGCGCTACGTGTTC	0.602																																						uc010dht.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(3244-3246)cGc>cAc		Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.							53	60	58					17																	78073390		2011	4184	6195	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073390G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3245G>A	17.37:g.78073390G>A	ENSP00000380679:p.Arg1082His		Somatic				CCDC40_uc002jxm.4_Missense_Mutation_p.R865H|CCDC40_uc002jxn.4_Missense_Mutation_p.R478H|GAA_uc002jxp.3_5'Flank|GAA_uc002jxo.3_5'Flank|GAA_uc002jxq.3_5'Flank	p.R1082H	NM_017950	NP_060420	WXS	Illumina GAIIx	Phase_I	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		19	3276	+	all_neural(118;0.167)		1082					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.3245G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853545	0.32791	.	.	ENSG00000141519	ENST00000397545	T	0.50548	0.74	4.76	0.524	0.17066	.	.	.	.	.	T	0.53578	0.1805	L	0.56769	1.78	0.09310	N	1	D;D	0.69078	0.997;0.996	P;P	0.54965	0.765;0.742	T	0.45920	-0.9228	9	0.59425	D	0.04	-14.9157	9.1347	0.36866	0.6443:0.0:0.3557:0.0	.	1082;865	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	H	1082	ENSP00000380679:R1082H	ENSP00000380679:R1082H	R	+	2	0	CCDC40	75687985	0.995000	0.38212	0.002000	0.10522	0.101000	0.19017	1.345000	0.33953	0.024000	0.15214	0.655000	0.94253	CGC		0.602	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		3	67	0	0	0	1	0	3	67					A	78073390	G	A	78073390	3	1	108	1	0	0	0	0	1	0	0	0	2812	1087	38	1	3323	1	CCDC40	17	78073390	Missense_Mutation	SNP	G	TCGA-DJ-A3UO-01A-11D-A22D-08	35132332	78073390	3121820	18	1914											
ILF3	3609	broad.mit.edu	37	19	10789305	10789305	+	Silent	SNP	C	C	T			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chr19:10789305C>T	ENST00000590261.1	+	5	576	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_ENST00000420083.1_Silent_p.N192N|ILF3_ENST00000592763.1_Silent_p.N192N|ILF3_ENST00000407004.3_Silent_p.N192N|ILF3_ENST00000588657.1_Silent_p.N192N|ILF3_ENST00000318511.3_Silent_p.N192N|ILF3_ENST00000250241.8_Silent_p.N192N|ILF3_ENST00000589998.1_Silent_p.N192N|ILF3_ENST00000449870.1_Silent_p.N192N			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	192	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502																																						uc002mpo.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(574-576)aaC>aaT		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 4, mRNA.							96	84	88					19																	10789305		2203	4300	6503	SO:0001819	synonymous_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10789305C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.576C>T	19.37:g.10789305C>T			Somatic				ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpn.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	p.N192N	NM_017620	NP_060090	WXS	Illumina GAIIx	Phase_I	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		5	893	+			192			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	c.576C>T	CCDS12246.1																																																																																				0.502	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	154	0	0	0	1	0	4	154					T	10789305	C	T	10789305	2	4	108	1	0	0	0	0	0	0	0	1	7712	535	19	1		1	ILF3	19	10789305	Silent	SNP	C	TCGA-DJ-A3UO-01A-11D-A22D-08		10789305	48339678	19	1915											
FIGF	2277	broad.mit.edu	37	X	15365368	15365368	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3UO-01A-11D-A22D-08	TCGA-DJ-A3UO-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e8599b5-687b-4133-89d7-0a11a64176bf	e56f171c-bb12-4ae8-8941-9deaaba66df8	g.chrX:15365368T>G	ENST00000297904.3	-	6	1285	c.856A>C	c.(856-858)Aaa>Caa	p.K286Q	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	286	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CTGCAGTTTTTGGGGTGCTGG	0.488																																						uc004cwt.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(856-858)Aaa>Caa		Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.							151	137	142					X																	15365368		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15365368T>G	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.856A>C	X.37:g.15365368T>G	ENSP00000297904:p.Lys286Gln		Somatic				FIGF_uc022bth.1_Non-coding_Transcript	p.K286Q	NM_004469	NP_004460	WXS	Illumina GAIIx	Phase_I	O43915	VEGFD_HUMAN			5	1323	-	Hepatocellular(33;0.183)		286			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.856A>C	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	T	7.506	0.653672	0.14580	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.02	3.15	0.36227	.	0.417921	0.24375	N	0.039061	T	0.14442	0.0349	N	0.03608	-0.345	0.22050	N	0.999395	B	0.09022	0.002	B	0.06405	0.002	T	0.25117	-1.0141	9	0.19590	T	0.45	-23.2321	7.6511	0.28348	0.0:0.7409:0.1605:0.0986	.	286	O43915	VEGFD_HUMAN	Q	286	.	ENSP00000297904:K286Q	K	-	1	0	FIGF	15275289	0.992000	0.36948	0.687000	0.30102	0.642000	0.38348	1.533000	0.36040	0.376000	0.24707	-0.378000	0.06908	AAA		0.488	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		3	82	0	0	0	1	0	3	82					G	15365368	T	G	15365368	3	3	108	1	0	0	0	0	1	0	0	0	5889	1821	63	5	216	5	FIGF	23	15365368	Missense_Mutation	SNP	T	TCGA-DJ-A3UO-01A-11D-A22D-08		15365368	139905192	20	1916											
SDC3	9672	broad.mit.edu	37	1	31349713	31349713	+	Missense_Mutation	SNP	C	C	T	rs372651371		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:31349713C>T	ENST00000339394.6	-	3	730	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	SDC3_ENST00000336798.7_Missense_Mutation_p.A128T|SDC3_ENST00000471567.1_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	186	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|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)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGGTGGCGGTGGCCACT	0.637																																						uc001bse.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(556-558)Gcc>Acc		Homo sapiens syndecan 3 (SDC3), mRNA.		C	THR/ALA	0,4396		0,0,2198	22	25	24		556	2.5	0.0	1		24	1,8571		0,1,4285	no	missense	SDC3	NM_014654.3	58	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	benign	186/443	31349713	1,12967	2198	4286	6484	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31349713C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.556G>A	1.37:g.31349713C>T	ENSP00000344468:p.Ala186Thr		Somatic				SDC3_uc001bsd.2_Missense_Mutation_p.A128T	p.A186T	NM_014654	NP_055469	WXS	Illumina GAIIx	Phase_I	O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	2	603	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	186			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.556G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	0.534	-0.856789	0.02630	0.0	1.17E-4	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.22134	1.99;1.97	4.99	2.46	0.29980	.	0.510735	0.18029	N	0.153967	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.13407	0.008;0.009	T	0.37009	-0.9724	10	0.06891	T	0.86	-5.1076	3.0789	0.06255	0.1993:0.5273:0.0:0.2734	.	186;128	O75056;D3DPN2	SDC3_HUMAN;.	T	128;186	ENSP00000338346:A128T;ENSP00000344468:A186T	ENSP00000338346:A128T	A	-	1	0	SDC3	31122300	0.261000	0.24063	0.010000	0.14722	0.005000	0.04900	0.471000	0.22100	0.756000	0.33013	0.462000	0.41574	GCC		0.637	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		16	24	0	0	0	1	0	16	24					T	31349713	C	T	31349713	3	4	109	1	0	0	0	0	1	0	0	0	13953	768	27	1	784	1	SDC3	1	31349713	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		31349713	217900908	1	1917											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		88	140	0	0	0	1	0	88	140					C	115256529	T	C	115256529	3	2	109	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A3UP-01A-11D-A22D-08	83906816	115256529	133994092	2	1918											
PUM2	23369	broad.mit.edu	37	2	20478389	20478389	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:20478389G>A	ENST00000361078.2	-	12	1934	c.1912C>T	c.(1912-1914)Ccg>Tcg	p.P638S	PUM2_ENST00000319801.5_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.P638S|PUM2_ENST00000536417.1_Missense_Mutation_p.P582S|PUM2_ENST00000403432.1_Missense_Mutation_p.P638S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	638	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATGGCGGTGGCGTAAGT	0.413																																						uc002rds.1																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1912-1914)Ccg>Tcg		Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.							139	135	136					2																	20478389		2203	4299	6502	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding	g.chr2:20478389G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1912C>T	2.37:g.20478389G>A	ENSP00000354370:p.Pro638Ser		Somatic				PUM2_uc002rdq.1_Missense_Mutation_p.P15S|PUM2_uc002rdt.1_Missense_Mutation_p.P638S|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Missense_Mutation_p.P638S|PUM2_uc010yjz.1_Missense_Mutation_p.P577S	p.P638S	NM_015317	NP_056132	WXS	Illumina GAIIx	Phase_I	Q8TB72	PUM2_HUMAN			11	1930	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		638			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	G	19.38	3.816416	0.70912	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000403432;ENST00000536417	T;T;T;T	0.20463	2.09;2.37;2.09;2.07	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	M	0.65975	2.015	0.80722	D	1	D;P;D	0.89917	1.0;0.815;1.0	D;P;D	0.91635	0.999;0.674;0.994	T	0.42616	-0.9441	10	0.46703	T	0.11	-5.6998	16.8867	0.86078	0.0:0.1282:0.8718:0.0	.	582;638;638	B4E2B6;Q8TB72-3;Q8TB72	.;.;PUM2_HUMAN	S	638;638;638;582	ENSP00000338173:P638S;ENSP00000354370:P638S;ENSP00000385992:P638S;ENSP00000440093:P582S	ENSP00000338173:P638S	P	-	1	0	PUM2	20341870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.620000	0.98373	1.426000	0.47256	0.650000	0.86243	CCG		0.413	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		3	75	0	0	0	1	0	3	75					A	20478389	G	A	20478389	3	1	109	1	0	0	0	0	1	0	0	0	12826	1261	44	2	1318	2	PUM2	2	20478389	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20478389	222720984	3	1919											
BAZ2B	29994	broad.mit.edu	37	2	160240182	160240182	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:160240182G>A	ENST00000392783.2	-	24	4191	c.3696C>T	c.(3694-3696)gaC>gaT	p.D1232D	BAZ2B_ENST00000355831.2_Silent_p.D1198D|BAZ2B_ENST00000343439.5_Silent_p.D1132D|BAZ2B_ENST00000392782.1_Silent_p.D1196D|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAATGTTCTTGTCGATTTCAC	0.289																																						uc002uao.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3694-3696)gaC>gaT		Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.							125	111	116					2																	160240182		1828	4064	5892	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160240182G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3696C>T	2.37:g.160240182G>A			Somatic				BAZ2B_uc002uap.3_Silent_p.D1196D	p.D1232D	NM_013450	NP_038478	WXS	Illumina GAIIx	Phase_I	Q9UIF8	BAZ2B_HUMAN			23	4101	-			1232					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.3696C>T	CCDS2209.2																																																																																				0.289	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			13	16	0	0	0	1	0	13	16					A	160240182	G	A	160240182	2	1	109	1	0	0	0	0	0	0	0	1	1332	1368	48	2		2	BAZ2B	2	160240182	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	139761793	160240182	82959191	4	1920											
XRCC5	7520	broad.mit.edu	37	2	216990723	216990723	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr2:216990723A>G	ENST00000392133.3	+	9	1228	c.767A>G	c.(766-768)aAt>aGt	p.N256S	XRCC5_ENST00000392132.2_Missense_Mutation_p.N256S			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	256	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATTGGCTCCAATTTGTCTATA	0.388								Non-homologous end-joining																														uc002vfy.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(766-768)aAt>aGt	Non-homologous end-joining	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.							96	95	95					2																	216990723		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216990723A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.767A>G	2.37:g.216990723A>G	ENSP00000375978:p.Asn256Ser		Somatic				XRCC5_uc002vfz.3_Missense_Mutation_p.N142S	p.N256S	NM_021141	NP_066964	WXS	Illumina GAIIx	Phase_I	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	6	907	+		Renal(323;0.0328)	256			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.767A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	9.138	1.013169	0.19277	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.28454	1.61;1.61	5.35	2.97	0.34412	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (1);	0.268409	0.44688	N	0.000440	T	0.14960	0.0361	N	0.17082	0.46	0.30668	N	0.753645	B	0.02656	0.0	B	0.04013	0.001	T	0.25328	-1.0135	10	0.10377	T	0.69	.	7.8433	0.29410	0.7726:0.0:0.2274:0.0	.	256	P13010	XRCC5_HUMAN	S	256	ENSP00000375978:N256S;ENSP00000375977:N256S	ENSP00000375977:N256S	N	+	2	0	XRCC5	216698968	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.897000	0.39799	0.565000	0.29255	0.533000	0.62120	AAT		0.388	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		4	111	0	0	0	1	0	4	111					G	216990723	A	G	216990723	3	3	109	1	0	0	0	0	1	0	0	0	17453	101	4	3	793	3	XRCC5	2	216990723	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08	56750541	216990723	26208650	5	1921											
SLCO2A1	6578	broad.mit.edu	37	3	133667435	133667435	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:133667435G>A	ENST00000310926.4	-	8	1323	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	SLCO2A1_ENST00000493729.1_Silent_p.N274N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	350					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CCAGGAACTTGTTGAGGAAGG	0.587																																						uc003eqa.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1048-1050)aaC>aaT		Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.							155	147	150					3																	133667435		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133667435G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1050C>T	3.37:g.133667435G>A			Somatic				SLCO2A1_uc011blv.2_Silent_p.N169N	p.N350N	NM_005630	NP_005621	WXS	Illumina GAIIx	Phase_I	Q92959	SO2A1_HUMAN			7	1324	-			350					Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.1050C>T	CCDS3084.1																																																																																				0.587	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		6	225	0	0	0	1	0	6	225					A	133667435	G	A	133667435	2	1	109	1	0	0	0	0	0	0	0	1	14726	1368	48	2		2	SLCO2A1	3	133667435	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		133667435	64354995	6	1922											
OPA1	4976	broad.mit.edu	37	3	193375008	193375008	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr3:193375008C>T	ENST00000392438.3	+	21	2387	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	OPA1_ENST00000361715.2_Missense_Mutation_p.A737V|OPA1_ENST00000361828.2_Missense_Mutation_p.A736V|OPA1_ENST00000361510.2_Missense_Mutation_p.A773V|OPA1_ENST00000361150.2_Missense_Mutation_p.A719V|OPA1_ENST00000361908.3_Missense_Mutation_p.A755V	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	718					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGACTTTGCGGAGGACAGC	0.353																																						uc003ftg.3																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2317-2319)gCg>gTg		Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.							111	115	113					3																	193375008		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193375008C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2153C>T	3.37:g.193375008C>T	ENSP00000376233:p.Ala718Val		Somatic				OPA1_uc003fth.3_Missense_Mutation_p.A737V|OPA1_uc003fti.3_Missense_Mutation_p.A755V|OPA1_uc003ftj.3_Missense_Mutation_p.A736V|OPA1_uc003ftk.3_Missense_Mutation_p.A719V|OPA1_uc003ftl.3_Missense_Mutation_p.A700V|OPA1_uc003ftm.3_Missense_Mutation_p.A718V|OPA1_uc003ftn.3_Missense_Mutation_p.A682V	p.A773V	NM_130837	NP_570850	WXS	Illumina GAIIx	Phase_I	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	22	2552	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		718					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2318C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040126	0.75732	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95821	-3.42;-3.39;-3.37;-3.4;-3.42;-3.82	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.991;0.992;0.991;0.991;0.997;0.991;0.996;0.995	P;P;P;P;P;P;P;P	0.57679	0.691;0.565;0.691;0.691;0.825;0.791;0.709;0.791	D	0.96175	0.9126	10	0.45353	T	0.12	-15.8721	18.8485	0.92217	0.0:1.0:0.0:0.0	.	682;718;700;719;736;755;737;773	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	V	755;718;773;737;736;719	ENSP00000354681:A755V;ENSP00000376233:A718V;ENSP00000355324:A773V;ENSP00000355311:A737V;ENSP00000354429:A736V;ENSP00000354781:A719V	ENSP00000354781:A719V	A	+	2	0	OPA1	194857702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.728000	0.84847	2.681000	0.91329	0.655000	0.94253	GCG		0.353	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		3	124	0	0	0	1	0	3	124					T	193375008	C	T	193375008	3	4	109	1	0	0	0	0	1	0	0	0	10871	768	27	1	2408	1	OPA1	3	193375008	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	59707573	193375008	4647422	7	1923											
MFSD7	84179	broad.mit.edu	37	4	675823	675823	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:675823C>T	ENST00000404286.2	-	10	1622	c.1607G>A	c.(1606-1608)gGc>gAc	p.G536D	MFSD7_ENST00000503156.1_3'UTR|MFSD7_ENST00000322224.4_Missense_Mutation_p.G535D|MFSD7_ENST00000347950.5_Missense_Mutation_p.G417D|MFSD7_ENST00000515118.1_Missense_Mutation_p.G439D	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	536					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TTGGACCCTGCCTGCGAGTCT	0.692																																						uc003gay.3																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(1606-1608)gGc>gAc		Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.							30	31	31					4																	675823		2192	4299	6491	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:675823C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"Solute carriers"	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.1607G>A	4.37:g.675823C>T	ENSP00000384616:p.Gly536Asp		Somatic				MFSD7_uc003gaw.3_Missense_Mutation_p.G278D|MFSD7_uc003gax.3_Missense_Mutation_p.G535D|MFSD7_uc003gaz.3_Missense_Mutation_p.G417D	p.G536D	NM_032219	NP_115595	WXS	Illumina GAIIx	Phase_I	Q6UXD7	MFSD7_HUMAN			9	1664	-			536					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.1607G>A		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079624	0.55753	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118	D;D;D;D	0.96940	-3.86;-3.26;-3.27;-4.18	2.61	2.61	0.31194	.	.	.	.	.	D	0.94016	0.8083	N	0.08118	0	0.19945	N	0.999949	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.989;0.988;0.995	D	0.85871	0.1416	9	0.87932	D	0	.	5.4952	0.16799	0.0:0.8458:0.0:0.1542	.	439;417;536;535	D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;MFSD7_HUMAN;.	D	417;535;536;439	ENSP00000307545:G417D;ENSP00000320234:G535D;ENSP00000384616:G536D;ENSP00000423204:G439D	ENSP00000320234:G535D	G	-	2	0	MFSD7	665823	0.157000	0.22836	0.144000	0.22314	0.044000	0.14063	1.441000	0.35035	1.804000	0.52760	0.644000	0.83932	GGC		0.692	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		3	27	0	0	0	1	0	3	27					T	675823	C	T	675823	3	4	109	1	0	0	0	0	1	0	0	0	9537	739	26	2	79	2	MFSD7	4	675823	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		675823	190478453	8	1924											
PPARGC1A	10891	broad.mit.edu	37	4	23833344	23833345	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr4:23833344_23833345GC>TG	ENST00000264867.2	-	3	383_384	c.264_265GC>CA	c.(262-267)ttGCta>ttCAta	p.88_89LL>FI	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	88					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGGACTGCTAGCAAGTTTGCCT	0.465																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.3																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(262-267)ttgcta>ttCAta		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.																																				SO:0001583	missense	10891				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding	g.chr4:23833344_23833345GC>TG	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.264_265delinsTG	4.37:g.23833344_23833345delinsTG	ENSP00000264867:p.L88_L89delinsFI		Somatic				PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	p.88_89LL>FI	NM_013261	NP_037393	WXS	Illumina GAIIx	Phase_I	Q9UBK2	PRGC1_HUMAN			2	384_385	-		Breast(46;0.0503)	88					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	DNP	ENST00000264867.2	37	c.264_265GC>CA	CCDS3429.1																																																																																				0.465	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		14	343	0	0	0	1	0	14	343					TG	23833345	GC	TG	23833344	3	4	109	1	0	0	0	0	1	0	0	0	12300	962	34	4	2175	4	PPARGC1A	4	23833344	Missense_Mutation	DNP	GC	TCGA-DJ-A3UP-01A-11D-A22D-08	23157521	23833344	167320932	9	1925											
GIGYF1	64599	broad.mit.edu	37	7	100284337	100284337	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:100284337T>C	ENST00000275732.5	-	7	1838	c.629A>G	c.(628-630)gAg>gGg	p.E210G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCAGCTGCcctcctcctcctc	0.701																																						uc003uwg.1																			1	Deletion - In frame(1)	p.E210delE(2)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-630)gAg>gGg		Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.							27	30	29					7																	100284337		2202	4297	6499	SO:0001583	missense	64599							g.chr7:100284337T>C	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629A>G	7.37:g.100284337T>C	ENSP00000275732:p.Glu210Gly		Somatic					p.E210G	NM_022574	NP_072096	WXS	Illumina GAIIx	Phase_I	O75420	PERQ1_HUMAN			6	1638	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.629A>G	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.860831	0.51482	.	.	ENSG00000146830	ENST00000275732	D	0.84146	-1.81	4.59	4.59	0.56863	.	0.125321	0.51477	D	0.000085	T	0.72211	0.3432	N	0.20685	0.6	0.31402	N	0.676515	B	0.06786	0.001	B	0.06405	0.002	T	0.66232	-0.5975	10	0.17832	T	0.49	-25.9062	10.274	0.43499	0.0:0.0:0.0:1.0	.	210	O75420	PERQ1_HUMAN	G	210	ENSP00000275732:E210G	ENSP00000275732:E210G	E	-	2	0	GIGYF1	100122273	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	2.825000	0.48096	1.922000	0.55676	0.460000	0.39030	GAG		0.701	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		3	63	0	0	0	1	0	3	63					C	100284337	T	C	100284337	3	2	109	1	0	0	0	0	1	0	0	0	6377	1551	54	3	2550	3	GIGYF1	7	100284337	Missense_Mutation	SNP	T	TCGA-DJ-A3UP-01A-11D-A22D-08		100284337	58854326	10	1926											
VIPR2	7434	broad.mit.edu	37	7	158935229	158935229	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr7:158935229G>A	ENST00000262178.2	-	2	245	c.60C>T	c.(58-60)agC>agT	p.S20S	VIPR2_ENST00000402066.1_Silent_p.S161S|VIPR2_ENST00000421760.2_Silent_p.S20S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	20					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTGGGTGAATGCTGTTCACCT	0.373																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(58-60)agC>agT		Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.							146	140	142					7																	158935229		2203	4298	6501	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158935229G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.60C>T	7.37:g.158935229G>A			Somatic				VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	p.S20S	NM_003382	NP_003373	WXS	Illumina GAIIx	Phase_I	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	1	246	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	20					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.60C>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376034	0.42105	.	.	ENSG00000106018	ENST00000418475	.	.	.	5.09	2.17	0.27698	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	.	6.4047	0.21658	0.3215:0.0:0.6785:0.0	.	.	.	.	V	15	.	.	A	-	2	0	VIPR2	158627990	0.979000	0.34478	0.795000	0.32087	0.969000	0.65631	0.229000	0.17833	0.608000	0.30000	0.591000	0.81541	GCA		0.373	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		8	123	0	0	0	1	0	8	123					A	158935229	G	A	158935229	2	1	109	1	0	0	0	0	0	0	0	1	17167	1310	46	2		2	VIPR2	7	158935229	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	58650892	158935229	203434	11	1927											
DERL1	79139	broad.mit.edu	37	8	124033740	124033740	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr8:124033740C>T	ENST00000259512.4	-	6	754		c.e6-1		DERL1_ENST00000519018.1_Splice_Site|DERL1_ENST00000419562.2_Splice_Site|DERL1_ENST00000405944.3_Splice_Site|DERL1_ENST00000523036.1_Splice_Site|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATAGCAGGCCTAGGATGGAA	0.413																																						uc003ypl.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.e6-1		Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.							95	98	97					8																	124033740		2203	4300	6503	SO:0001630	splice_region_variant	79139				ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124033740C>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.454-1G>A	8.37:g.124033740C>T			Somatic				DERL1_uc003ypm.2_Splice_Site_p.A152_splice|DERL1_uc011lif.1_Splice_Site_p.A52_splice|DERL1_uc003ypn.2_Splice_Site_p.A152_splice	p.A152_splice	NM_024295	NP_077271	WXS	Illumina GAIIx	Phase_I	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		6	740	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		152					B3KW41|E9PH19	Splice_Site	SNP	ENST00000259512.4	37	c.454_splice	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013453	0.75161	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562;ENST00000519018;ENST00000523036	.	.	.	5.68	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7457	0.69488	0.0:0.9304:0.0:0.0696	.	.	.	.	.	-1	.	.	.	-	.	.	DERL1	124102921	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.667000	0.68067	1.409000	0.46915	0.655000	0.94253	.		0.413	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295	Intron	3	142	0	0	0	1	0	3	142					T	124033740	C	T	124033740	5	4	109	1	0	0	0	0	0	0	1	0	4446	695	24	2	314	2	DERL1	8	124033740	Splice_Site	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08		124033740	22330282	12	1928											
KIAA1432	57589	broad.mit.edu	37	9	5754856	5754856	+	Missense_Mutation	SNP	G	G	A	rs373564292		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr9:5754856G>A	ENST00000414202.2	+	15	1809	c.1618G>A	c.(1618-1620)Gtg>Atg	p.V540M	KIAA1432_ENST00000381532.2_Missense_Mutation_p.V461M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V461M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.V424M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.V540M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AAATATGATCGTGACAGGTGG	0.299													G|||	1	0.000199681	8e-04	0	5008	,	,		12720	0		0	False		,,,				2504	0					uc003zjl.4																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1507-1509)Gtg>Atg		Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.		G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	79	80	80		1618,1507,1618	5.1	1.0	9		80	0,8600		0,0,4300	no	missense,missense,missense	KIAA1432	NM_001135920.2,NM_001206557.1,NM_020829.3	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	540/1166,503/1387,540/1424	5754856	1,13005	2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5754856G>A																												ENST00000414202.2:c.1618G>A	9.37:g.5754856G>A	ENSP00000416696:p.Val540Met		Somatic				KIAA1432_uc003zjh.3_Missense_Mutation_p.V461M|KIAA1432_uc003zji.3_Missense_Mutation_p.V461M|KIAA1432_uc003zjj.1_Missense_Mutation_p.V3M	p.V503M	NM_001206557	NP_001193486	WXS	Illumina GAIIx	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	13	1698	+		Acute lymphoblastic leukemia(23;0.154)	540						Missense_Mutation	SNP	ENST00000414202.2	37	c.1507G>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480277|4.480277	0.84747|0.84747	2.27E-4|2.27E-4	0.0|0.0	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72938|0.72938	0.3523|0.3523	M|M	0.86178|0.86178	2.8|2.8	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	.|0.74023	.|0.959;0.959;0.98;0.982	T|T	0.78206|0.78206	-0.2294|-0.2294	5|10	.|0.72032	.|D	.|0.01	-15.8557|-15.8557	18.6183|18.6183	0.91312|0.91312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|424;461;540;540	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	H|M	431|540;540;461;461;424	.|ENSP00000251879:V540M;ENSP00000416696:V540M;ENSP00000370943:V461M;ENSP00000402240:V461M	.|ENSP00000251879:V540M	R|V	+|+	2|1	0|0	KIAA1432|KIAA1432	5744856|5744856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.184000|9.184000	0.94893|0.94893	2.379000|2.379000	0.81126|0.81126	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.299	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			3	84	0	0	0	1	0	3	84					A	5754856	G	A	5754856	3	1	109	1	0	0	0	0	1	0	0	0	8233	1145	40	1	1435	1	KIAA1432	9	5754856	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		5754856	135458575	13	1929											
MUC5B	727897	broad.mit.edu	37	11	1269764	1269764	+	Missense_Mutation	SNP	G	G	A	rs201915227	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:1269764G>A	ENST00000529681.1	+	31	11712	c.11654G>A	c.(11653-11655)cGc>cAc	p.R3885H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.R3888H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3885	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCCTCCA	0.652																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11653-11655)cGc>cAc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							129	158	148					11																	1269764		2118	4215	6333	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269764G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11654G>A	11.37:g.1269764G>A	ENSP00000436812:p.Arg3885His		Somatic					p.R3885H	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	11713	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3885			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11654G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	2.123	-0.401065	0.04865	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.28255	1.62;1.8	2.76	-5.53	0.02552	.	.	.	.	.	T	0.19805	0.0476	L	0.42245	1.32	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.001;0.002	T	0.15037	-1.0451	9	0.87932	D	0	.	2.7912	0.05388	0.1806:0.2765:0.3941:0.1488	.	4413;3888	A7Y9J9;E9PBJ0	.;.	H	3885;3888;3829;3790	ENSP00000436812:R3885H;ENSP00000415793:R3888H	ENSP00000343037:R3829H	R	+	2	0	MUC5B	1226340	0.150000	0.22732	0.000000	0.03702	0.003000	0.03518	0.881000	0.28173	-3.545000	0.00143	-1.188000	0.01700	CGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	198	0	0	0	1	0	4	198					A	1269764	G	A	1269764	3	1	109	1	0	0	0	0	1	0	0	0	9979	1087	38	1	11785	1	MUC5B	11	1269764	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		1269764	133736752	14	1930											
CTR9	9646	broad.mit.edu	37	11	10789616	10789620	+	Splice_Site	DEL	TATAG	TATAG	-	rs374419778|rs559712136		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:10789616_10789620delTATAG	ENST00000361367.2	+	15	2298		c.e15-1			NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component						cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CACTTGTTTCTATAGGAAAAGCGTC	0.38																																						uc001mja.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.e15-1		Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.																																				SO:0001630	splice_region_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10789616_10789620delTATAG	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1873-1TATAG>-	11.37:g.10789616_10789620delTATAG			Somatic					p.E625_splice	NM_014633	NP_055448	WXS	Illumina GAIIx	Phase_I	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	2022	+			625					D3DQV8|Q15015	Splice_Site	DEL	ENST00000361367.2	37	c.1873_splice	CCDS7805.1																																																																																				0.38	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	Intron	27	59						27	59	---	---	---	---	-	10789620	TATAG	-	10789616	8	5	109	1	0	1	0	1	0	0	1	0	4024	1537	53	0		0	CTR9	11	10789616	Splice_Site	DEL	TATAG	TCGA-DJ-A3UP-01A-11D-A22D-08	9519852	10789616	124216900	15	1931											
NPAS4	266743	broad.mit.edu	37	11	66191839	66191839	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:66191839C>T	ENST00000311034.2	+	7	1654	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	493					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S493L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACTGAAACCTCGGTCAGAAGC	0.577																																						uc001ohx.1																			1	Substitution - Missense(1)	p.S493L(2)	skin(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1477-1479)tCg>tTg		Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.							228	220	223					11																	66191839		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191839C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1478C>T	11.37:g.66191839C>T	ENSP00000311196:p.Ser493Leu		Somatic				NPAS4_uc010rpc.1_Missense_Mutation_p.S283L	p.S493L	NM_178864	NP_849195	WXS	Illumina GAIIx	Phase_I	Q8IUM7	NPAS4_HUMAN			6	1654	+			493					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1478C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	5.105	0.205016	0.09704	.	.	ENSG00000174576	ENST00000311034	T	0.49139	0.79	4.56	3.63	0.41609	.	0.887861	0.09503	N	0.793320	T	0.28566	0.0707	N	0.08118	0	0.21553	N	0.999645	B	0.20261	0.043	B	0.12837	0.008	T	0.17684	-1.0361	10	0.37606	T	0.19	-0.4102	9.688	0.40111	0.2069:0.7931:0.0:0.0	.	493	Q8IUM7	NPAS4_HUMAN	L	493	ENSP00000311196:S493L	ENSP00000311196:S493L	S	+	2	0	NPAS4	65948415	0.091000	0.21658	0.037000	0.18230	0.113000	0.19764	3.889000	0.56212	1.103000	0.41568	0.563000	0.77884	TCG		0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		16	499	0	0	0	1	0	16	499					T	66191839	C	T	66191839	3	4	109	1	0	0	0	0	1	0	0	0	10565	893	31	1	1504	1	NPAS4	11	66191839	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	55402223	66191839	68814677	16	1932											
ANKRD13D	338692	broad.mit.edu	37	11	67069034	67069034	+	Missense_Mutation	SNP	G	G	A	rs141392969		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr11:67069034G>A	ENST00000447274.2	+	13	2338	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R388H|ANKRD13D_ENST00000504236.1_3'UTR|SSH3_ENST00000308298.7_5'Flank|SSH3_ENST00000308127.4_5'Flank|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R125H|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R388H|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R475H|SSH3_ENST00000376757.5_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	388						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCATGGAGCGCAACGAGCCC	0.662																																						uc001okd.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1423-1425)cGc>cAc		Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA.		G	HIS/ARG	0,4400		0,0,2200	55	55	55		1424	3.7	1.0	11	dbSNP_134	55	1,8589	1.2+/-3.3	0,1,4294	no	missense	ANKRD13D	NM_207354.2	29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/606	67069034	1,12989	2200	4295	6495	SO:0001583	missense	338692							g.chr11:67069034G>A	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"Ankyrin repeat domain containing"	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.1163G>A	11.37:g.67069034G>A	ENSP00000402616:p.Arg388His		Somatic				ANKRD13D_uc001okc.2_Missense_Mutation_p.R388H|ANKRD13D_uc001oke.2_Missense_Mutation_p.R388H|ANKRD13D_uc001okg.2_Missense_Mutation_p.R171H|ANKRD13D_uc001okh.2_Missense_Mutation_p.R171H|ANKRD13D_uc001oki.2_Missense_Mutation_p.R125H|SSH3_uc001okj.3_5'Flank|SSH3_uc001okk.3_5'Flank|SSH3_uc001okl.3_5'Flank	p.R475H	NM_207354	NP_997237	WXS	Illumina GAIIx	Phase_I	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		12	1594	+			388					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.1424G>A		.	.	.	.	.	.	.	.	.	.	G	14.95	2.688343	0.48097	0.0	1.16E-4	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.49139	1.42;1.6;1.42;1.42;0.79	4.71	3.71	0.42584	.	0.379294	0.27591	N	0.018681	T	0.46249	0.1383	L	0.55743	1.74	0.53688	D	0.999976	B;D;P	0.55800	0.14;0.973;0.915	B;P;B	0.47118	0.017;0.538;0.259	T	0.48007	-0.9072	10	0.56958	D	0.05	-28.8024	9.5358	0.39222	0.1768:0.0:0.8232:0.0	.	125;475;388	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	H	388;475;388;388;125	ENSP00000402616:R388H;ENSP00000427130:R475H;ENSP00000310874:R388H;ENSP00000444404:R388H;ENSP00000443977:R125H	ENSP00000310874:R388H	R	+	2	0	ANKRD13D	66825610	0.997000	0.39634	1.000000	0.80357	0.568000	0.35870	2.805000	0.47939	2.440000	0.82611	0.561000	0.74099	CGC		0.662	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		3	131	0	0	0	1	0	3	131					A	67069034	G	A	67069034	3	1	109	1	0	0	0	0	1	0	0	0	644	1087	38	1	1474	1	ANKRD13D	11	67069034	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	877195	67069034	67937482	17	1933											
GALNT8	26290	broad.mit.edu	37	12	4873152	4873152	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:4873152A>T	ENST00000252318.2	+	9	1869	c.1532A>T	c.(1531-1533)gAt>gTt	p.D511V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	511	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTCTGCTTGGATCAGGGACCC	0.502																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1531-1533)gAt>gTt		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.							189	169	176					12																	4873152		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4873152A>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1532A>T	12.37:g.4873152A>T	ENSP00000252318:p.Asp511Val		Somatic					p.D511V	NM_017417	NP_059113	WXS	Illumina GAIIx	Phase_I	Q9NY28	GALT8_HUMAN			8	1624	+			511			Ricin B-type lectin.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1532A>T	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.23|19.23	3.787537|3.787537	0.70337|0.70337	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.37752|.	1.18|.	4.43|4.43	4.43|4.43	0.53597|0.53597	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75184|0.75184	0.3815|0.3815	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.77606|0.77606	-0.2525|-0.2525	10|5	0.87932|.	D|.	0|.	.|.	11.6872|11.6872	0.51494|0.51494	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	511|.	Q9NY28|.	GALT8_HUMAN|.	V|F	511|28;7	ENSP00000252318:D511V|.	ENSP00000252318:D511V|.	D|I	+|+	2|1	0|0	GALNT8|GALNT8	4743413|4743413	1.000000|1.000000	0.71417|0.71417	0.561000|0.561000	0.28357|0.28357	0.103000|0.103000	0.19146|0.19146	6.744000|6.744000	0.74854|0.74854	1.858000|1.858000	0.53909|0.53909	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.502	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		9	109	0	0	0	1	0	9	109					T	4873152	A	T	4873152	3	4	109	1	0	0	0	0	1	0	0	0	6219	333	12	5	1566	5	GALNT8	12	4873152	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08		4873152	128978743	18	1934											
LRP1	4035	broad.mit.edu	37	12	57559912	57559912	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr12:57559912G>A	ENST00000243077.3	+	17	3183	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	906	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	GAGAACAACCGGTGCATCCCC	0.597																																						uc001snd.3																			0				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						c.(2716-2718)cGg>cAg		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						103	84	90					12																	57559912		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57559912G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2717G>A	12.37:g.57559912G>A	ENSP00000243077:p.Arg906Gln		Somatic				LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	p.R906Q	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	16	3183	+			906			LDL-receptor class A 4.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2717G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333267	0.97480	.	.	ENSG00000123384	ENST00000243077	D	0.95588	-3.75	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	D	0.96253	0.8778	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94041	0.7309	10	0.20519	T	0.43	.	18.0982	0.89497	0.0:0.0:1.0:0.0	.	906	Q07954	LRP1_HUMAN	Q	906	ENSP00000243077:R906Q	ENSP00000243077:R906Q	R	+	2	0	LRP1	55846179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.519000	0.98025	2.894000	0.99253	0.655000	0.94253	CGG		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	118	0	0	0	1	0	3	118					A	57559912	G	A	57559912	3	1	109	1	0	0	0	0	1	0	0	0	8951	1116	39	1	2783	1	LRP1	12	57559912	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	52686760	57559912	76291983	19	1935											
TPTE2	93492	broad.mit.edu	37	13	20000569	20000569	+	Missense_Mutation	SNP	G	G	T	rs535760419		TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:20000569G>T	ENST00000400230.2	-	18	1435	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	TPTE2_ENST00000255310.6_Missense_Mutation_p.S387Y|TPTE2_ENST00000382977.4_Missense_Mutation_p.S464Y|TPTE2_ENST00000382975.4_Missense_Mutation_p.S424Y|TPTE2_ENST00000382978.1_Missense_Mutation_p.S424Y|TPTE2_ENST00000390680.2_Missense_Mutation_p.S387Y|TPTE2_ENST00000400103.2_Missense_Mutation_p.S353Y|TPTE2_ENST00000457266.2_Missense_Mutation_p.S353Y			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	464	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTCACCGAAGAGAAAAACTG	0.363													g|||	1	0.000199681	0	0	5008	,	,		17172	0		0	False		,,,				2504	0.001					uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1390-1392)tCt>tAt		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.							118	110	113					13																	20000569		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20000569G>T	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1391C>A	13.37:g.20000569G>T	ENSP00000383089:p.Ser464Tyr		Somatic				TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Missense_Mutation_p.S353Y|TPTE2_uc001ume.3_Missense_Mutation_p.S387Y|TPTE2_uc009zzm.3_Missense_Mutation_p.S135Y|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.S135Y	p.S464Y	NM_199254	NP_954863	WXS	Illumina GAIIx	Phase_I	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	18	1602	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	464			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1391C>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	2.032	-0.422251	0.04734	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	2.06	1.17	0.20885	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.180613	0.49916	D	0.000122	T	0.81592	0.4855	L	0.54323	1.7	0.39786	D	0.97237	P;B;P	0.39131	0.661;0.209;0.586	P;B;B	0.45037	0.467;0.1;0.282	T	0.75334	-0.3354	9	.	.	.	-5.9594	6.6358	0.22881	0.0:0.2976:0.7024:0.0	.	353;387;464	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Y	424;353;464;387;387;464;424;353;464	ENSP00000372438:S424Y;ENSP00000382974:S353Y;ENSP00000383089:S464Y;ENSP00000255310:S387Y;ENSP00000375098:S387Y;ENSP00000372437:S464Y;ENSP00000372435:S424Y;ENSP00000442218:S353Y	.	S	-	2	0	TPTE2	18898569	0.222000	0.23652	0.410000	0.26471	0.101000	0.19017	0.556000	0.23438	0.392000	0.25172	0.194000	0.17425	TCT		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		6	149	0	0	0	1	0	6	149					T	20000569	G	T	20000569	3	4	109	1	0	0	0	0	1	0	0	0	16428	942	33	4	189	4	TPTE2	13	20000569	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20000569	95169309	20	1936											
DACH1	1602	broad.mit.edu	37	13	72147128	72147128	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr13:72147128A>C	ENST00000359684.2	-	5	1304	c.1305T>G	c.(1303-1305)ttT>ttG	p.F435L	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.F383L|DACH1_ENST00000354591.4_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	435					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCATCATCATAAAAGGAAGTT	0.398																																						uc021rkj.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1147-1149)ttT>ttG		Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.							74	75	75					13																	72147128		1989	4198	6187	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147128A>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1305T>G	13.37:g.72147128A>C	ENSP00000352712:p.Phe435Leu		Somatic				DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	p.F383L	NM_080759	NP_542937	WXS	Illumina GAIIx	Phase_I	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1572	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	433			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1149T>G		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224315	0.79576	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.54866	0.81;0.55	5.6	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.68610	-0.5363	10	0.72032	D	0.01	-12.2752	9.8001	0.40759	0.8581:0.0:0.1419:0.0	.	381	Q9UI36-2	.	L	383;435;435	ENSP00000304994:F383L;ENSP00000352712:F435L	ENSP00000304994:F383L	F	-	3	2	DACH1	71045129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.830000	0.62745	0.494000	0.27859	0.482000	0.46254	TTT		0.398	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		35	31	0	0	0	1	0	35	31					C	72147128	A	C	72147128	3	2	109	1	0	0	0	0	1	0	0	0	4220	359	13	5	1009	5	DACH1	13	72147128	Missense_Mutation	SNP	A	TCGA-DJ-A3UP-01A-11D-A22D-08	52146559	72147128	43022750	21	1937											
IGDCC4	57722	broad.mit.edu	37	15	65684514	65684514	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr15:65684514G>A	ENST00000352385.2	-	11	2289	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	694	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCTTGAGCCGGACAGGCCCC	0.627																																						uc002aou.1																			0		p.R694R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2080-2082)Cgg>Tgg		Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.							33	40	37					15																	65684514		2197	4295	6492	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65684514G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2080C>T	15.37:g.65684514G>A	ENSP00000319623:p.Arg694Trp		Somatic				IGDCC4_uc002aot.1_Missense_Mutation_p.R282W	p.R694W	NM_020962	NP_066013	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			10	2290	-			694			Fibronectin type-III 3.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2080C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171832	0.21704	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58358	0.34	5.49	0.753	0.18404	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.117171	0.53938	D	0.000052	T	0.40473	0.1118	L	0.41492	1.28	0.36220	D	0.851904	B	0.21688	0.059	B	0.23018	0.043	T	0.42481	-0.9449	10	0.66056	D	0.02	-26.9183	9.1995	0.37249	0.0777:0.0:0.4054:0.5169	.	694	Q8TDY8	IGDC4_HUMAN	W	694;423	ENSP00000319623:R694W	ENSP00000319623:R694W	R	-	1	2	IGDCC4	63471567	0.885000	0.30320	0.466000	0.27168	0.375000	0.29983	0.392000	0.20801	0.243000	0.21327	-0.137000	0.14449	CGG		0.627	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		3	121	0	0	0	1	0	3	121					A	65684514	G	A	65684514	3	1	109	1	0	0	0	0	1	0	0	0	7569	1115	39	1	1712	1	IGDCC4	15	65684514	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		65684514	36846878	22	1938											
IRX3	79191	broad.mit.edu	37	16	54318498	54318498	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:54318498delG	ENST00000329734.3	-	2	2007	c.1295delC	c.(1294-1296)cctfs	p.P433fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	433	Pro-rich.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						CAGGTGCGGAGGGGCAGAGCC	0.751																																					GBM(143;1830 1866 4487 4646 37383)	uc002eht.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(1294-1296)cctfs		Homo sapiens iroquois homeobox 3 (IRX3), mRNA.							1	2	2					16																	54318498		934	2139	3073	SO:0001589	frameshift_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54318498delG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1295delC	16.37:g.54318498delG	ENSP00000331608:p.Pro433fs		Somatic					p.P432fs	NM_024336	NP_077312	WXS	Illumina GAIIx	Phase_I	P78415	IRX3_HUMAN			1	1711	-			432			Pro-rich.		Q7Z4A4|Q7Z4A5|Q8IVC6	Frame_Shift_Del	DEL	ENST00000329734.3	37	c.1295delC	CCDS10750.1																																																																																				0.751	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			2	4						2	4	---	---	---	---	-	54318498	G	-	54318498	7	5	109	1	0	1	0	1	0	0	0	0	7845	1000	35	0	222	0	IRX3	16	54318498	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UP-01A-11D-A22D-08		54318498	36036255	23	1939											
DUS2L	54920	broad.mit.edu	37	16	68100529	68100529	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr16:68100529G>A	ENST00000565263.1	+	10	1038	c.544G>A	c.(544-546)Gtt>Att	p.V182I	DUS2_ENST00000432752.1_Missense_Mutation_p.V147I|DUS2_ENST00000358896.6_Missense_Mutation_p.V182I	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	182					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TGCCATCGCAGTTCATGGGAG	0.522																																						uc002evi.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(544-546)Gtt>Att		Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.							191	179	183					16																	68100529		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68100529G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.544G>A	16.37:g.68100529G>A	ENSP00000455229:p.Val182Ile		Somatic				DUS2L_uc002evj.3_Missense_Mutation_p.V182I|DUS2L_uc010vkk.2_Missense_Mutation_p.V147I	p.V182I	NM_017803	NP_060273	WXS	Illumina GAIIx	Phase_I	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	9	693	+		Ovarian(137;0.192)	182					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.544G>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592172	0.66219	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.34859	1.34;1.34	6.03	5.07	0.68467	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	L	0.37850	1.14	0.58432	D	0.999999	D;P	0.64830	0.994;0.715	P;P	0.61477	0.889;0.601	T	0.05767	-1.0865	10	0.30078	T	0.28	-25.3739	12.708	0.57073	0.076:0.0:0.924:0.0	.	147;182	E7EUN9;Q9NX74	.;DUS2L_HUMAN	I	182;147	ENSP00000351769:V182I;ENSP00000409498:V147I	ENSP00000351769:V182I	V	+	1	0	DUS2L	66658030	1.000000	0.71417	0.977000	0.42913	0.932000	0.56968	6.606000	0.74159	2.868000	0.98415	0.555000	0.69702	GTT		0.522	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		8	272	0	0	0	1	0	8	272					A	68100529	G	A	68100529	3	1	109	1	0	0	0	0	1	0	0	0	4806	1029	36	2	574	2	DUS2L	16	68100529	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	13782031	68100529	22254224	24	1940											
CYTSB	92521	broad.mit.edu	37	17	20107857	20107857	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:20107857G>A	ENST00000261503.5	+	4	546	c.495G>A	c.(493-495)gcG>gcA	p.A165A	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Silent_p.A84A|SPECC1_ENST00000395527.4_Silent_p.A165A|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Silent_p.A165A|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Silent_p.A84A|SPECC1_ENST00000395530.2_Silent_p.A84A|SPECC1_ENST00000584527.1_5'Flank	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	165				AALESQV -> VRLSPKF (in Ref. 1; BAB16440). {ECO:0000305}.	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)		AAAAGGCTGCGCTTGAGTCCC	0.458																																						uc002gwq.3																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(493-495)gcG>gcA		Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.							81	89	86					17																	20107857		2203	4300	6503	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20107857G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.495G>A	17.37:g.20107857G>A			Somatic				SPECC1_uc010cqx.3_Silent_p.A165A|SPECC1_uc002gwr.3_Silent_p.A165A|SPECC1_uc002gws.3_Silent_p.A165A|SPECC1_uc002gwv.3_Silent_p.A84A|SPECC1_uc010vzf.2_Intron|SPECC1_uc002gwu.3_Silent_p.A84A|SPECC1_uc002gwt.3_Silent_p.A84A	p.A165A	NM_001243439	NP_001230368	WXS	Illumina GAIIx	Phase_I	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	3	605	+			165	AALESQV -> VRLSPKF (in Ref. 1; BAB16440).				B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.495G>A	CCDS32590.1																																																																																				0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		3	101	0	0	0	1	0	3	101					A	20107857	G	A	20107857	2	1	109	1	0	0	0	0	0	0	0	1	4210	1074	38	1		1	CYTSB	17	20107857	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		20107857	61087353	25	1941											
DGKE	8526	broad.mit.edu	37	17	54926136	54926136	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr17:54926136G>A	ENST00000284061.3	+	6	1148	c.968G>A	c.(967-969)gGt>gAt	p.G323D		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	323	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGTTGGGGTACAGGTTAT	0.413																																						uc002iur.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(967-969)gGt>gAt		Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.							137	132	134					17																	54926136		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54926136G>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.968G>A	17.37:g.54926136G>A	ENSP00000284061:p.Gly323Asp		Somatic				DGKE_uc002ius.1_Missense_Mutation_p.G323D	p.G323D	NM_003647	NP_003638	WXS	Illumina GAIIx	Phase_I	P52429	DGKE_HUMAN			5	1148	+	Breast(9;3.59e-07)		323			DAGKc.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.968G>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152005	0.94645	.	.	ENSG00000153933	ENST00000284061	T	0.44881	0.91	5.59	5.59	0.84812	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75019	-0.3465	10	0.87932	D	0	.	19.5907	0.95509	0.0:0.0:1.0:0.0	.	323;323	A1L4Q0;P52429	.;DGKE_HUMAN	D	323	ENSP00000284061:G323D	ENSP00000284061:G323D	G	+	2	0	DGKE	52281135	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.019000	0.93662	2.642000	0.89623	0.563000	0.77884	GGT		0.413	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		3	137	0	0	0	1	0	3	137					A	54926136	G	A	54926136	3	1	109	1	0	0	0	0	1	0	0	0	4468	1261	44	2	986	2	DGKE	17	54926136	Missense_Mutation	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08	34818279	54926136	26269074	26	1942											
ELAVL1	1994	broad.mit.edu	37	19	8028430	8028430	+	Silent	SNP	G	G	A			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:8028430G>A	ENST00000407627.2	-	6	1047	c.918C>T	c.(916-918)aaC>aaT	p.N306N	ELAVL1_ENST00000351593.5_Silent_p.N333N|ELAVL1_ENST00000596459.1_Silent_p.N306N	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	306	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGCGGTAGCCGTTCAGGCTGG	0.453																																						uc002mjb.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(916-918)aaC>aaT		Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.							98	98	98					19																	8028430		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8028430G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.918C>T	19.37:g.8028430G>A			Somatic					p.N306N	NM_001419	NP_001410	WXS	Illumina GAIIx	Phase_I	Q15717	ELAV1_HUMAN			5	1085	-			306			RRM 3.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.918C>T	CCDS12193.1																																																																																				0.453	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		3	106	0	0	0	1	0	3	106					A	8028430	G	A	8028430	2	1	109	1	0	0	0	0	0	0	0	1	5049	1136	40	1		1	ELAVL1	19	8028430	Silent	SNP	G	TCGA-DJ-A3UP-01A-11D-A22D-08		8028430	51100553	27	1943											
CRTC1	23373	broad.mit.edu	37	19	18870826	18870826	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:18870826C>T	ENST00000321949.8	+	8	700	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CRTC1_ENST00000601916.1_Missense_Mutation_p.P150L|CRTC1_ENST00000594658.1_Missense_Mutation_p.P184L|CRTC1_ENST00000338797.6_Missense_Mutation_p.P241L	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCATCTTCCCGTCTGCCGAC	0.672																																						uc010ebv.3																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(721-723)cCg>cTg		Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.							85	98	94					19																	18870826		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18870826C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.674C>T	19.37:g.18870826C>T	ENSP00000323332:p.Pro225Leu		Somatic				CRTC1_uc002nkb.4_Missense_Mutation_p.P225L|CRTC1_uc010ebw.3_Missense_Mutation_p.P90L	p.P241L	NM_001098482	NP_001091952	WXS	Illumina GAIIx	Phase_I	Q6UUV9	CRTC1_HUMAN			8	810	+			225						Missense_Mutation	SNP	ENST00000321949.8	37	c.722C>T	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	c	17.37	3.373299	0.61624	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.71817	-0.6;-0.6	4.29	4.29	0.51040	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.989;0.992;0.994	D	0.88879	0.3338	10	0.87932	D	0	-11.6869	15.7628	0.78101	0.0:1.0:0.0:0.0	.	225;241;225	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	L	225;241;225	ENSP00000345001:P241L;ENSP00000323332:P225L	ENSP00000262813:P225L	P	+	2	0	CRTC1	18731826	1.000000	0.71417	0.925000	0.36789	0.071000	0.16799	5.760000	0.68793	1.961000	0.56991	0.457000	0.33378	CCG		0.672	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		5	291	0	0	0	1	0	5	291					T	18870826	C	T	18870826	3	4	109	1	0	0	0	0	1	0	0	0	3899	652	23	1	756	1	CRTC1	19	18870826	Missense_Mutation	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	10842396	18870826	40258157	28	1944											
PRMT1	3276	broad.mit.edu	37	19	50180555	50180555	+	Silent	SNP	C	C	G	rs576649607	byFrequency	TCGA-DJ-A3UP-01A-11D-A22D-08	TCGA-DJ-A3UP-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43f8d30b-1ca7-40a7-b0ae-e3c275446c14	dde10b76-a9b4-4d88-99ff-40daf388ee30	g.chr19:50180555C>G	ENST00000391851.4	+	1	147	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRMT1_ENST00000532489.1_Intron|PRMT1_ENST00000454376.2_Silent_p.A6A	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	0					cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CAGCCGAGGCCGCGAACTGCA	0.667													c|||	2	0.000399361	0.0015	0	5008	,	,		11476	0		0	False		,,,				2504	0					uc010enf.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(16-18)gcC>gcG		Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.							31	45	40					19																	50180555		1985	4182	6167	SO:0001819	synonymous_variant	3276					cytoplasm	protein methyltransferase activity	g.chr19:50180555C>G	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.18C>G	19.37:g.50180555C>G			Somatic				PRMT1_uc021uxu.1_5'UTR|PRMT1_uc002ppe.3_Silent_p.A6A|PRMT1_uc021uxv.1_Silent_p.A6A|PRMT1_uc010yba.2_5'Flank	p.A6A	NM_001536	NP_001527	WXS	Illumina GAIIx	Phase_I	Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	0	147	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	5					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	c.18C>G	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.440678	0.25900	.	.	ENSG00000126457	ENST00000524771	.	.	.	4.97	3.94	0.45596	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56631	-0.7947	4	.	.	.	1.9712	9.1163	0.36760	0.0:0.9013:0.0:0.0987	.	.	.	.	R	2	.	.	P	+	2	0	PRMT1	54872367	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	0.689000	0.25437	1.323000	0.45263	-0.136000	0.14681	CCG		0.667	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		23	37	0	0	0	1	0	23	37					G	50180555	C	G	50180555	2	3	109	1	0	0	0	0	0	0	0	1	12535	639	23	4		4	PRMT1	19	50180555	Silent	SNP	C	TCGA-DJ-A3UP-01A-11D-A22D-08	31309729	50180555	8948428	29	1945											
KHDRBS1	10657	broad.mit.edu	37	1	32498905	32498905	+	Silent	SNP	C	C	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:32498905C>A	ENST00000327300.7	+	4	908	c.741C>A	c.(739-741)gcC>gcA	p.A247A	KHDRBS1_ENST00000492989.1_Silent_p.A208A|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCCATGCCATGGAGGAAG	0.448																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.3																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(739-741)gcC>gcA		Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.							120	115	117					1																	32498905		2203	4300	6503	SO:0001819	synonymous_variant	10657				G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32498905C>A	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"GAP-associated tyrosine phosphoprotein p62 (Sam68)"	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.741C>A	1.37:g.32498905C>A			Somatic				KHDRBS1_uc001bua.1_Silent_p.A208A|KHDRBS1_uc001buc.1_Non-coding_Transcript	p.A247A	NM_006559	NP_006550	WXS	Illumina GAIIx	Phase_I	Q07666	KHDR1_HUMAN			3	847	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	247						Silent	SNP	ENST00000327300.7	37	c.741C>A	CCDS350.1																																																																																				0.448	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		3	65	0	0	0	1	0	3	65					A	32498905	C	A	32498905	2	1	110	1	0	0	0	0	0	0	0	1	8146	581	21	4		4	KHDRBS1	1	32498905	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		32498905	216751716	1	1946											
ADSS	159	broad.mit.edu	37	1	244582071	244582071	+	Silent	SNP	C	C	T			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:244582071C>T	ENST00000366535.3	-	9	1252	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CATTGTCTTGCTCTGTAGGAA	0.338																																						uc001iaj.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(934-936)gaG>gaA		Homo sapiens adenylosuccinate synthase (ADSS), mRNA.	L-Aspartic Acid(DB00128)						92	85	87					1																	244582071		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding	g.chr1:244582071C>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.936G>A	1.37:g.244582071C>T			Somatic					p.E312E	NM_001126	NP_001117	WXS	Illumina GAIIx	Phase_I	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		8	1253	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	312						Silent	SNP	ENST00000366535.3	37	c.936G>A	CCDS1624.1																																																																																				0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		4	67	0	0	0	1	0	4	67					T	244582071	C	T	244582071	2	4	110	1	0	0	0	0	0	0	0	1	347	796	28	2		2	ADSS	1	244582071	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08	212083166	244582071	4668550	2	1947											
CCDC142	84865	broad.mit.edu	37	2	74709264	74709264	+	Missense_Mutation	SNP	C	C	T	rs145805017		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr2:74709264C>T	ENST00000393965.3	-	1	1097	c.701G>A	c.(700-702)cGt>cAt	p.R234H	TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.R234H|TTC31_ENST00000410003.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	234										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCGGAGCACACGGGACGTGGG	0.662																																						uc002slr.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(700-702)cGt>cAt		Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.		C	HIS/ARG	0,4402		0,0,2201	31	40	37		701	4.4	1.0	2	dbSNP_134	37	1,8597		0,1,4298	no	missense	CCDC142	NM_032779.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	234/744	74709264	1,12999	2201	4299	6500	SO:0001583	missense	84865							g.chr2:74709264C>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.701G>A	2.37:g.74709264C>T	ENSP00000377537:p.Arg234His		Somatic				TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.R234H|CCDC142_uc002slp.2_Missense_Mutation_p.R234H	p.R234H	NM_032779	NP_116168	WXS	Illumina GAIIx	Phase_I	Q17RM4	CC142_HUMAN			0	1094	-			234					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.701G>A		.	.	.	.	.	.	.	.	.	.	C	20.9	4.070827	0.76301	0.0	1.16E-4	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.83755	-1.76;-1.76	4.4	4.4	0.53042	.	0.000000	0.52532	D	0.000078	D	0.88658	0.6496	M	0.72118	2.19	0.36289	D	0.856307	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63703	0.917;0.917;0.917	D	0.91794	0.5446	10	0.87932	D	0	-12.2002	12.6538	0.56776	0.0:1.0:0.0:0.0	.	234;234;234	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	H	234	ENSP00000377537:R234H;ENSP00000290418:R234H	ENSP00000290418:R234H	R	-	2	0	CCDC142	74562772	0.970000	0.33590	0.993000	0.49108	0.643000	0.38383	2.457000	0.45005	2.438000	0.82558	0.561000	0.74099	CGT		0.662	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		3	63	0	0	0	1	0	3	63					T	74709264	C	T	74709264	3	4	110	1	0	0	0	0	1	0	0	0	2776	536	19	1	1566	1	CCDC142	2	74709264	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		74709264	168490109	3	1948											
MTTP	4547	broad.mit.edu	37	4	100532612	100532612	+	Splice_Site	SNP	T	T	C			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:100532612T>C	ENST00000265517.5	+	14	2192		c.e14+2		RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Splice_Site|MTTP_ENST00000457717.1_Splice_Site			P55157	MTP_HUMAN	microsomal triglyceride transfer protein						cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGTAGCCAGGTAACTCACTTC	0.398																																						uc011cej.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.e14+2		Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	Hesperetin(DB01094)						132	122	125					4																	100532612		2203	4300	6503	SO:0001630	splice_region_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532612T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1989+2T>C	4.37:g.100532612T>C			Somatic				MTTP_uc003hvc.4_Splice_Site_p.Q663_splice	p.Q690_splice	NM_000253	NP_000244	WXS	Illumina GAIIx	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2083	+			663					A8K428|Q08AM4|Q6P5T3	Splice_Site	SNP	ENST00000265517.5	37	c.2070_splice	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518726	0.44763	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8181	0.78621	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTTP	100751635	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.995000	0.76257	2.139000	0.66308	0.533000	0.62120	.		0.398	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		Intron	4	145	0	0	0	1	0	4	145					C	100532612	T	C	100532612	5	2	110	1	0	0	0	0	0	0	1	0	9964	1652	57	3	2045	3	MTTP	4	100532612	Splice_Site	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08		100532612	90621664	4	1949											
DNAH5	1767	broad.mit.edu	37	5	13737517	13737517	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:13737517G>A	ENST00000265104.4	-	66	11403	c.11299C>T	c.(11299-11301)Cgc>Tgc	p.R3767C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3767	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3767C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCAGGCGGTAAAGCAAG	0.428									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)	p.R3767H(2)|p.R3767C(2)	endometrium(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11299-11301)Cgc>Tgc		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							187	170	176					5																	13737517		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737517G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11299C>T	5.37:g.13737517G>A	ENSP00000265104:p.Arg3767Cys		Somatic				DNAH5_uc003jfc.2_Intron	p.R3767C	NM_001369	NP_001360	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			65	11341	-	Lung NSC(4;0.00476)		3767			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11299C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469595	0.63625	.	.	ENSG00000039139	ENST00000265104	T	0.34072	1.38	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76860	-0.2803	10	0.87932	D	0	.	13.7836	0.63097	0.0:0.0:0.7209:0.2791	.	3767	Q8TE73	DYH5_HUMAN	C	3767	ENSP00000265104:R3767C	ENSP00000265104:R3767C	R	-	1	0	DNAH5	13790517	1.000000	0.71417	0.991000	0.47740	0.801000	0.45260	2.442000	0.44873	1.393000	0.46605	0.655000	0.94253	CGC		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	116	0	0	0	1	0	4	116					A	13737517	G	A	13737517	3	1	110	1	0	0	0	0	1	0	0	0	4604	1116	39	1	2631	1	DNAH5	5	13737517	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		13737517	167177743	5	1950											
POU4F3	5459	broad.mit.edu	37	5	145719616	145719616	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:145719616G>A	ENST00000230732.4	+	2	715	c.626G>A	c.(625-627)gGc>gAc	p.G209D	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	209	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGACGTGGGCGCGGCTCTG	0.637																																						uc003loa.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(625-627)gGc>gAc		Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.							40	44	42					5																	145719616		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719616G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.626G>A	5.37:g.145719616G>A	ENSP00000230732:p.Gly209Asp		Somatic					p.G209D	NM_002700	NP_002691	WXS	Illumina GAIIx	Phase_I	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	715	+			209			POU-specific.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.626G>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974711	0.74360	.	.	ENSG00000091010	ENST00000230732	D	0.87966	-2.32	4.51	4.51	0.55191	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96106	0.9073	10	0.87932	D	0	.	16.1394	0.81513	0.0:0.0:1.0:0.0	.	209	Q15319	PO4F3_HUMAN	D	209	ENSP00000230732:G209D	ENSP00000230732:G209D	G	+	2	0	POU4F3	145699809	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.627000	0.98412	2.312000	0.78011	0.462000	0.41574	GGC		0.637	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		6	73	0	0	0	1	0	6	73					A	145719616	G	A	145719616	3	1	110	1	0	0	0	0	1	0	0	0	12280	1203	42	2	632	2	POU4F3	5	145719616	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	131982099	145719616	35195644	6	1951											
TFAP2D	83741	broad.mit.edu	37	6	50683317	50683317	+	Missense_Mutation	SNP	C	C	A	rs573515296	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr6:50683317C>A	ENST00000008391.3	+	2	756	c.528C>A	c.(526-528)gaC>gaA	p.D176E		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGAGCAGACGACTTGCAGG	0.597													C|||	2	0.000399361	0	0	5008	,	,		13466	0		0	False		,,,				2504	0.002					uc003paf.3																			0		p.A175S(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(526-528)gaC>gaA		Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.							45	52	50					6																	50683317		2154	4216	6370	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683317C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.528C>A	6.37:g.50683317C>A	ENSP00000008391:p.Asp176Glu		Somatic				TFAP2D_uc011dwt.2_Non-coding_Transcript	p.D176E	NM_172238	NP_758438	WXS	Illumina GAIIx	Phase_I	Q7Z6R9	AP2D_HUMAN			1	1040	+	Lung NSC(77;0.0334)		176						Missense_Mutation	SNP	ENST00000008391.3	37	c.528C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519172	0.13005	.	.	ENSG00000008197	ENST00000008391	D	0.96967	-4.19	5.06	0.657	0.17850	.	0.423244	0.27231	N	0.020301	T	0.77391	0.4123	N	0.08118	0	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.69591	-0.5104	10	0.02654	T	1	0.0059	10.3774	0.44090	0.3839:0.4922:0.1239:0.0	.	176	Q7Z6R9	AP2D_HUMAN	E	176	ENSP00000008391:D176E	ENSP00000008391:D176E	D	+	3	2	TFAP2D	50791276	0.996000	0.38824	0.999000	0.59377	0.986000	0.74619	0.461000	0.21940	0.184000	0.20083	0.655000	0.94253	GAC		0.597	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		6	104	0	0	0	1	0	6	104					A	50683317	C	A	50683317	3	1	110	1	0	0	0	0	1	0	0	0	15787	535	19	4	534	4	TFAP2D	6	50683317	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		50683317	120431750	7	1952											
MKRN1	23608	broad.mit.edu	37	7	140179061	140179061	+	Frame_Shift_Del	DEL	G	G	-	rs542039727	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140179061delG	ENST00000255977.2	-	1	308	c.84delC	c.(82-84)cccfs	p.P28fs	MKRN1_ENST00000480552.1_5'Flank|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.P28fs|MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000474576.1_5'Flank|MKRN1_ENST00000437223.2_5'UTR	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	28					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GGATCGGGGTGGGGGAGgctg	0.701																																						uc003vvt.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(82-84)cccfs		Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.			,	17,3399		7,3,1698	5	5	5		,	1.7	1.0	7		5	46,6438		21,4,3217	no	frameshift,frameshift	MKRN1	NM_013446.3,NM_001145125.1	,	28,7,4915	A1A1,A1R,RR		0.7094,0.4977,0.6364	,	,	140179061	63,9837	1883	3590	5473	SO:0001589	frameshift_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140179061delG	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.84delC	7.37:g.140179061delG	ENSP00000255977:p.Pro28fs		Somatic				MKRN1_uc011krd.1_5'UTR|MKRN1_uc003vvv.4_Frame_Shift_Del_p.P28fs|MKRN1_uc003vvu.4_5'UTR	p.P28fs	NM_013446	NP_038474	WXS	Illumina GAIIx	Phase_I	Q9UHC7	MKRN1_HUMAN			0	309	-	Melanoma(164;0.00956)		28					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Frame_Shift_Del	DEL	ENST00000255977.2	37	c.84delC	CCDS5860.1																																																																																				0.701	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		2	4						2	4	---	---	---	---	-	140179061	G	-	140179061	7	5	110	1	0	1	0	1	0	0	0	0	9606	1335	47	0	1400	0	MKRN1	7	140179061	Frame_Shift_Del	DEL	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		140179061	18959602	8	1953											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	84	0	0	0	1	0	30	84					T	140453136	A	T	140453136	3	4	110	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UQ-01A-11D-A22D-08	274075	140453136	18685527	9	1954											
SGK196	84197	broad.mit.edu	37	8	42977872	42977872	+	Missense_Mutation	SNP	T	T	C	rs199756983		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:42977872T>C	ENST00000331373.5	+	5	1160	c.905T>C	c.(904-906)gTc>gCc	p.V302A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										AGTGATATGGTCCGATTCCAT	0.478																																						uc003xpw.2																			0											c.(904-906)gTc>gCc		Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.							88	84	86					8																	42977872		2203	4300	6503	SO:0001583	missense	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977872T>C		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.905T>C	8.37:g.42977872T>C	ENSP00000331258:p.Val302Ala		Somatic					p.V302A	NM_032237	NP_115613	WXS	Illumina GAIIx	Phase_I	Q9H5K3	SG196_HUMAN			4	1164	+			302			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.905T>C	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097274	0.76870	.	.	ENSG00000185900	ENST00000331373	T	0.23147	1.92	5.45	5.45	0.79879	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059227	0.64402	D	0.000002	T	0.49098	0.1537	M	0.83012	2.62	0.53005	D	0.999967	D	0.69078	0.997	P	0.58970	0.849	T	0.54470	-0.8289	9	.	.	.	-11.0426	13.4612	0.61229	0.0:0.0:0.0:1.0	.	302	Q9H5K3	SG196_HUMAN	A	302	ENSP00000331258:V302A	.	V	+	2	0	AC113191.1	43097029	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	5.003000	0.63959	2.065000	0.61736	0.482000	0.46254	GTC		0.478	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		3	101	0	0	0	1	0	3	101					C	42977872	T	C	42977872	3	2	110	1	0	0	0	0	1	0	0	0	14208	1667	58	3	911	3	SGK196	8	42977872	Missense_Mutation	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08		42977872	103386150	10	1955											
TP53INP1	94241	broad.mit.edu	37	8	95952260	95952260	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:95952260G>A	ENST00000342697.4	-	3	708	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	TP53INP1_ENST00000378776.4_Missense_Mutation_p.P101S|TP53INP1_ENST00000448464.2_Missense_Mutation_p.P101S|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	101					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)					AAACATGGGGGTGGGGTGATA	0.463																																						uc003yhg.3																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(301-303)Ccc>Tcc		Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.							123	115	118					8																	95952260		2203	4300	6503	SO:0001583	missense	94241				apoptosis	PML body		g.chr8:95952260G>A	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.301C>T	8.37:g.95952260G>A	ENSP00000344215:p.Pro101Ser		Somatic				TP53INP1_uc003yhh.3_Missense_Mutation_p.P101S	p.P101S	NM_033285	NP_150601	WXS	Illumina GAIIx	Phase_I	Q96A56	T53I1_HUMAN			2	685	-	Breast(36;8.75e-07)		101					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.301C>T	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548502	0.86127	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.79454	-1.27;-1.27;-1.27	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.80183	2.485	0.80722	D	1	P;D	0.89917	0.873;1.0	P;D	0.91635	0.554;0.999	D	0.90117	0.4196	10	0.87932	D	0	-17.2002	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	101;101	Q96A56-2;Q96A56	.;T53I1_HUMAN	S	101	ENSP00000390063:P101S;ENSP00000344215:P101S;ENSP00000368052:P101S	ENSP00000344215:P101S	P	-	1	0	TP53INP1	96021436	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.323000	0.96364	1.630000	0.50440	0.655000	0.94253	CCC		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			3	78	0	0	0	1	0	3	78					A	95952260	G	A	95952260	3	1	110	1	0	0	0	0	1	0	0	0	16385	1261	44	2	455	2	TP53INP1	8	95952260	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	52974388	95952260	50411762	11	1956											
CD5	921	broad.mit.edu	37	11	60886790	60886790	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:60886790G>A	ENST00000347785.3	+	5	714	c.548G>A	c.(547-549)gGt>gAt	p.G183D		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGCCTGGGGGGTACCATCAGC	0.612																																						uc009ynk.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)gGt>gAt		Homo sapiens CD5 molecule (CD5), mRNA.							56	61	59					11																	60886790		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886790G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.548G>A	11.37:g.60886790G>A	ENSP00000342681:p.Gly183Asp		Somatic					p.G183D	NM_014207	NP_055022	WXS	Illumina GAIIx	Phase_I	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	4	651	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	183			SRCR 2.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.548G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377197	0.82682	.	.	ENSG00000110448	ENST00000347785	T	0.36340	1.26	5.4	5.4	0.78164	Speract/scavenger receptor (1);	0.000000	0.56097	D	0.000021	T	0.56455	0.1986	L	0.58810	1.83	0.31014	N	0.718959	D	0.89917	1.0	D	0.83275	0.996	T	0.61594	-0.7031	10	0.87932	D	0	-31.067	14.6581	0.68850	0.0:0.0:1.0:0.0	.	183	P06127	CD5_HUMAN	D	183	ENSP00000342681:G183D	ENSP00000342681:G183D	G	+	2	0	CD5	60643366	0.995000	0.38212	0.115000	0.21578	0.280000	0.26924	4.620000	0.61226	2.518000	0.84900	0.609000	0.83330	GGT		0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	108	0	0	0	1	0	5	108					A	60886790	G	A	60886790	3	1	110	1	0	0	0	0	1	0	0	0	3021	1261	44	2	566	2	CD5	11	60886790	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		60886790	74119726	12	1957											
PANX1	24145	broad.mit.edu	37	11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTGTGTGCAGCATCAAATCA	0.493																																						uc001per.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(739-741)aGc>aAc		Homo sapiens pannexin 1 (PANX1), mRNA.							184	160	168					11																	93912962		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93912962G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"Ion channels / Pannexins"	8599	protein-coding gene	gene with protein product	"innexin"	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.740G>A	11.37:g.93912962G>A	ENSP00000227638:p.Ser247Asn		Somatic				PANX1_uc001peq.3_Missense_Mutation_p.S247N	p.S247N	NM_015368	NP_056183	WXS	Illumina GAIIx	Phase_I	Q96RD7	PANX1_HUMAN			3	1125	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	247					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.740G>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914143	0.17907	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.18174	2.23;2.23	5.95	4.09	0.47781	.	0.306737	0.45606	N	0.000347	T	0.12646	0.0307	L	0.47016	1.485	0.31010	N	0.719366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18967	-1.0320	10	0.17832	T	0.49	-17.2145	5.2943	0.15745	0.2869:0.1384:0.5747:0.0	.	247;247	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	N	247	ENSP00000227638:S247N;ENSP00000411461:S247N	ENSP00000227638:S247N	S	+	2	0	PANX1	93552610	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.145000	0.31577	0.858000	0.35431	0.655000	0.94253	AGC		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		3	118	0	0	0	1	0	3	118					A	93912962	G	A	93912962	3	1	110	1	0	0	0	0	1	0	0	0	11420	971	34	2	754	2	PANX1	11	93912962	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	33026172	93912962	41093554	13	1958											
YLPM1	56252	broad.mit.edu	37	14	75276498	75276498	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr14:75276498G>A	ENST00000552421.1	+	6	2943	c.2819G>A	c.(2818-2820)cGa>cAa	p.R940Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1646Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1451Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1451	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCATGGCCGAGGTGAGTAA	0.468																																						uc001xqj.4																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4936-4938)cGa>cAa		Homo sapiens YLP motif containing 1 (YLPM1), mRNA.							54	50	51					14																	75276498		1956	4152	6108	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75276498G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2819G>A	14.37:g.75276498G>A	ENSP00000447921:p.Arg940Gln		Somatic				YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.R129Q	p.R1646Q	NM_019589	NP_062535	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	6	5061	+			1451					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4937G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.360574	0.82353	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.32	5.32	0.75619	.	0.000000	0.47455	D	0.000231	T	0.61899	0.2384	L	0.29908	0.895	0.42711	D	0.993646	D;D	0.76494	0.998;0.999	P;D	0.64144	0.867;0.922	T	0.61048	-0.7141	9	0.38643	T	0.18	-7.0676	13.3266	0.60463	0.076:0.0:0.924:0.0	.	1451;1646	P49750-3;P49750-4	.;.	Q	940;1646;1451;1359;55	.	ENSP00000238571:R1451Q	R	+	2	0	YLPM1	74346251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.605000	0.67634	2.472000	0.83506	0.591000	0.81541	CGA		0.468	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	55	0	0	0	1	0	3	55					A	75276498	G	A	75276498	3	1	110	1	0	0	0	0	1	0	0	0	17483	1058	37	1	4963	1	YLPM1	14	75276498	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		75276498	32073042	14	1959											
MAP2K6	5608	broad.mit.edu	37	17	67515461	67515461	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr17:67515461G>C	ENST00000590474.1	+	5	541	c.254G>C	c.(253-255)cGa>cCa	p.R85P	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R29P	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CAGCGGATCCGAGCCACAGTA	0.468																																						uc002jij.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(253-255)cGa>cCa		Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.							121	114	116					17																	67515461		2203	4300	6503	SO:0001583	missense	5608				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|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.chr17:67515461G>C	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.254G>C	17.37:g.67515461G>C	ENSP00000468348:p.Arg85Pro		Somatic				MAP2K6_uc002jii.3_Missense_Mutation_p.R85P|MAP2K6_uc002jik.3_Missense_Mutation_p.R115P	p.R85P	NM_002758	NP_002749	WXS	Illumina GAIIx	Phase_I	P52564	MP2K6_HUMAN			4	542	+	Breast(10;6.05e-10)		85			Protein kinase.			Missense_Mutation	SNP	ENST00000590474.1	37	c.254G>C	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270694	0.59540	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.62	5.62	0.85841	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	0.37839	0.1018	N	0.13272	0.32	0.54753	D	0.999983	P;B;B	0.35208	0.49;0.142;0.142	B;B;B	0.35073	0.195;0.13;0.13	T	0.17319	-1.0373	8	.	.	.	-8.3415	17.5131	0.87765	0.0:0.0:1.0:0.0	.	115;85;85	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	P	85	.	.	R	+	2	0	MAP2K6	65027056	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.743000	0.98849	2.809000	0.96659	0.655000	0.94253	CGA		0.468	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		31	85	0	0	0	1	0	31	85					C	67515461	G	C	67515461	3	2	110	1	0	0	0	0	1	0	0	0	9241	1058	37	4	272	4	MAP2K6	17	67515461	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		67515461	13679749	15	1960											
AKAP8L	26993	broad.mit.edu	37	19	15514819	15514819	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:15514819G>A	ENST00000397410.5	-	3	252		c.e3+1		AKAP8L_ENST00000595465.2_Splice_Site|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGACACTTGCCTCTATTTG	0.498																																						uc002naw.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.e3+1		Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.							129	138	135					19																	15514819		2010	4180	6190	SO:0001630	splice_region_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15514819G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.121+1C>T	19.37:g.15514819G>A			Somatic				AKAP8L_uc002nax.1_Splice_Site|AKAP8L_uc010xoh.1_Splice_Site_p.G41_splice|AKAP8L_uc002nay.1_Splice_Site_p.G41_splice|AKAP8L_uc002naz.3_5'Flank	p.G41_splice	NM_014371	NP_055186	WXS	Illumina GAIIx	Phase_I	Q9ULX6	AKP8L_HUMAN			3	220	-			41			Gly/Tyr-rich.		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Splice_Site	SNP	ENST00000397410.5	37	c.121_splice	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151452	0.57151	.	.	ENSG00000011243	ENST00000397410	.	.	.	5.15	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1706	0.48569	0.0882:0.0:0.9118:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKAP8L	15375819	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	0.826000	0.27407	1.307000	0.44944	0.561000	0.74099	.		0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371	Intron	4	60	0	0	0	1	0	4	60					A	15514819	G	A	15514819	5	1	110	1	0	0	0	0	0	0	1	0	458	1333	46	2	1865	2	AKAP8L	19	15514819	Splice_Site	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		15514819	43614164	16	1961											
NWD1	284434	broad.mit.edu	37	19	16910932	16910932	+	Missense_Mutation	SNP	T	T	C	rs138963732		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:16910932T>C	ENST00000552788.1	+	15	3695	c.3695T>C	c.(3694-3696)aTt>aCt	p.I1232T	NWD1_ENST00000549814.1_Missense_Mutation_p.I1190T|NWD1_ENST00000523826.1_Missense_Mutation_p.I1026T|CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000339803.6_Missense_Mutation_p.I1097T|NWD1_ENST00000379808.3_Missense_Mutation_p.I1232T|NWD1_ENST00000524140.2_Missense_Mutation_p.I1232T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1232							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						TTCCCCAAAATTGGGGACAAA	0.507																																						uc002neu.4																			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.(3694-3696)aTt>aCt		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.		T	THR/ILE	0,4406		0,0,2203	91	80	84		3695	0.9	0.0	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	1232/1433	16910932	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910932T>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3695T>C	19.37:g.16910932T>C	ENSP00000447224:p.Ile1232Thr		Somatic				NWD1_uc002net.4_Missense_Mutation_p.I1097T|NWD1_uc002nev.4_Missense_Mutation_p.I1026T|NWD1_uc021uqg.1_Missense_Mutation_p.I1097T	p.I1232T	NM_001007525	NP_001007526	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			16	4117	+			1232					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3695T>C		.	.	.	.	.	.	.	.	.	.	T	2.486	-0.318473	0.05386	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.69926	0.46;-0.44;0.46;2.27;0.5;2.27	5.35	0.885	0.19188	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.621357	0.15666	N	0.250651	T	0.41305	0.1153	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.001;0.003;0.005	T	0.20706	-1.0267	10	0.21540	T	0.41	-2.6828	8.8823	0.35382	0.0:0.4189:0.0:0.5811	.	1232;1232;1097	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	1097;1232;1190;1232;1026;1232;1097	ENSP00000428579:I1232T;ENSP00000447548:I1190T;ENSP00000369136:I1232T;ENSP00000428955:I1026T;ENSP00000447224:I1232T;ENSP00000340159:I1097T	ENSP00000340159:I1097T	I	+	2	0	NWD1	16771932	0.001000	0.12720	0.001000	0.08648	0.923000	0.55619	0.461000	0.21940	-0.187000	0.10516	-0.925000	0.02716	ATT		0.507	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		35	87	0	0	0	1	0	35	87					C	16910932	T	C	16910932	3	2	110	1	0	0	0	0	1	0	0	0	10781	1493	52	3	3340	3	NWD1	19	16910932	Missense_Mutation	SNP	T	TCGA-DJ-A3UQ-01A-11D-A22D-08	1396113	16910932	42218051	17	1962											
FPR2	2358	broad.mit.edu	37	19	52272349	52272349	+	Silent	SNP	C	C	T	rs200320548		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:52272349C>T	ENST00000598776.1	+	2	1210	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_ENST00000340023.6_Silent_p.I146I|FPR2_ENST00000598953.1_Silent_p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	146					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478													c|||	1	0.000199681	8e-04	0	5008	,	,		22842	0		0	False		,,,				2504	0					uc002pxr.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(436-438)atC>atT		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							147	131	137					19																	52272349		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272349C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.438C>T	19.37:g.52272349C>T			Somatic				FPR2_uc002pxs.4_Silent_p.I146I|FPR2_uc010epf.3_Silent_p.I146I|FPR2_uc021uyp.1_Silent_p.I146I	p.I146I	NM_001005738	NP_001453	WXS	Illumina GAIIx	Phase_I	P25090	FPR2_HUMAN			1	483	+			146					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.438C>T	CCDS12840.1																																																																																				0.478	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		16	90	0	0	0	1	0	16	90					T	52272349	C	T	52272349	2	4	110	1	0	0	0	0	0	0	0	1	6039	874	31	1		1	FPR2	19	52272349	Silent	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08	35361417	52272349	6856634	18	1963											
WFDC3	140686	broad.mit.edu	37	20	44417689	44417689	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:44417689C>G	ENST00000243938.4	-	3	175	c.92G>C	c.(91-93)gGa>gCa	p.G31A	WFDC3_ENST00000372630.2_Intron|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000372632.2_Missense_Mutation_p.G31A|WFDC3_ENST00000481847.1_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	31	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCATTCTCCCTCTTTTGC	0.517																																						uc002xpf.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(91-93)gGa>gCa		Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.							171	159	163					20																	44417689		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44417689C>G	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"WAP four-disulfide core domain containing"	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.92G>C	20.37:g.44417689C>G	ENSP00000243938:p.Gly31Ala		Somatic				DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	p.G31A	NM_080614	NP_542181	WXS	Illumina GAIIx	Phase_I	Q8IUB2	WFDC3_HUMAN			2	176	-		Myeloproliferative disorder(115;0.0122)	31			WAP 1.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.92G>C	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.713486|1.713486	0.30413|0.30413	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000337205|ENST00000243938;ENST00000372632	.|T;T	.|0.54071	.|0.59;0.59	4.58|4.58	2.63|2.63	0.31362|0.31362	.|Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	.|0.000000	.|0.31484	.|N	.|0.007571	T|T	0.74023|0.74023	0.3662|0.3662	H|H	0.95611|0.95611	3.695|3.695	0.58432|0.58432	D|D	0.999992|0.999992	.|D	.|0.67145	.|0.996	.|P	.|0.61800	.|0.894	T|T	0.75113|0.75113	-0.3432|-0.3432	5|10	.|0.87932	.|D	.|0	-1.6036|-1.6036	7.1316|7.1316	0.25504|0.25504	0.0:0.7872:0.0:0.2128|0.0:0.7872:0.0:0.2128	.|.	.|31	.|Q8IUB2	.|WFDC3_HUMAN	Q|A	25|31	.|ENSP00000243938:G31A;ENSP00000361715:G31A	.|ENSP00000243938:G31A	E|G	-|-	1|2	0|0	WFDC3|WFDC3	43851096|43851096	0.066000|0.066000	0.20996|0.20996	0.968000|0.968000	0.41197|0.41197	0.986000|0.986000	0.74619|0.74619	0.547000|0.547000	0.23299|0.23299	0.484000|0.484000	0.27630|0.27630	0.643000|0.643000	0.83706|0.83706	GAG|GGA		0.517	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			4	205	0	0	0	1	0	4	205					G	44417689	C	G	44417689	3	3	110	1	0	0	0	0	1	0	0	0	17350	855	30	4	623	4	WFDC3	20	44417689	Missense_Mutation	SNP	C	TCGA-DJ-A3UQ-01A-11D-A22D-08		44417689	18607831	19	1964											
CLCN5	1184	broad.mit.edu	37	X	49854982	49854982	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:49854982G>A	ENST00000307367.2	+	10	2035	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	CLCN5_ENST00000376108.3_Missense_Mutation_p.A582T|CLCN5_ENST00000376088.3_Missense_Mutation_p.A652T|CLCN5_ENST00000376091.3_Missense_Mutation_p.A652T			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	582					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)					TAAGACCCTGGCAATGGATGT	0.478																																						uc004dor.1																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1954-1956)Gca>Aca		Homo sapiens chloride channel 5 (CLCN5), transcript variant 1, mRNA.							117	94	101					X																	49854982		2203	4300	6503	SO:0001583	missense	1184				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity	g.chrX:49854982G>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1744G>A	X.37:g.49854982G>A	ENSP00000304257:p.Ala582Thr		Somatic				CLCN5_uc004doq.1_Missense_Mutation_p.A652T|CLCN5_uc004dos.1_Missense_Mutation_p.A582T|CLCN5_uc004dot.1_Missense_Mutation_p.A582T	p.A652T	NM_001127899	NP_000075	WXS	Illumina GAIIx	Phase_I	P51795	CLCN5_HUMAN			12	2595	+	Ovarian(276;0.236)		582					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1954G>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967432	0.92855	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.78	5.78	0.91487	.	0.047471	0.85682	D	0.000000	D	0.92583	0.7644	M	0.93808	3.46	0.80722	D	1	P;B	0.36282	0.546;0.043	B;B	0.37387	0.248;0.011	D	0.93351	0.6718	10	0.62326	D	0.03	-5.2567	17.6538	0.88172	0.0:0.0:1.0:0.0	.	582;652	P51795;P51795-2	CLCN5_HUMAN;.	T	652;484;652;582;582	ENSP00000365256:A652T;ENSP00000365259:A652T;ENSP00000365276:A582T;ENSP00000304257:A582T	ENSP00000304257:A582T	A	+	1	0	CLCN5	49741722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.441000	0.82636	0.594000	0.82650	GCA		0.478	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			20	60	0	0	0	1	0	20	60					A	49854982	G	A	49854982	3	1	110	1	0	0	0	0	1	0	0	0	3466	1203	42	2	1996	2	CLCN5	23	49854982	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08		49854982	105415578	20	1965											
ITIH5L	347365	broad.mit.edu	37	X	54783712	54783712	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:54783712G>A	ENST00000218436.6	-	8	2824	c.2795C>T	c.(2794-2796)aCt>aTt	p.T932I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	932	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CAGAGTGGGAGTAAAGGGCAT	0.567																																						uc004dtj.2																			0											c.(2794-2796)aCt>aTt		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							67	62	64					X																	54783712		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783712G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2795C>T	X.37:g.54783712G>A	ENSP00000218436:p.Thr932Ile		Somatic					p.T932I	NM_198510	NP_940912	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			7	2825	-			932			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2795C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591704	0.03799	.	.	ENSG00000102313	ENST00000218436	T	0.02446	4.29	3.78	0.712	0.18167	.	1.151990	0.07429	N	0.895352	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47886	-0.9082	10	0.45353	T	0.12	.	3.5149	0.07721	0.27:0.0:0.5028:0.2272	.	932	Q6UXX5	ITH5L_HUMAN	I	932	ENSP00000218436:T932I	ENSP00000218436:T932I	T	-	2	0	ITIH5L	54800437	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	0.076000	0.16826	-0.293000	0.09583	ACT		0.567	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		3	69	0	0	0	1	0	3	69					A	54783712	G	A	54783712	3	1	110	1	0	0	0	0	1	0	0	0	7908	1029	36	2	1170	2	ITIH5L	23	54783712	Missense_Mutation	SNP	G	TCGA-DJ-A3UQ-01A-11D-A22D-08	4928730	54783712	100486848	21	1966											
TNR	7143	broad.mit.edu	37	1	175325475	175325475	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr1:175325475A>T	ENST00000367674.2	-	16	3806	c.3098T>A	c.(3097-3099)aTc>aAc	p.I1033N	TNR_ENST00000263525.2_Missense_Mutation_p.I1033N			Q92752	TENR_HUMAN	tenascin R	1033	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGTGCTGATGGTGCCACT	0.498																																						uc001gkp.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3097-3099)aTc>aAc		Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.							261	224	237					1																	175325475		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325475A>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3098T>A	1.37:g.175325475A>T	ENSP00000356646:p.Ile1033Asn		Somatic				TNR_uc009wwu.1_Missense_Mutation_p.I1033N	p.I1033N	NM_003285	NP_003276	WXS	Illumina GAIIx	Phase_I	Q92752	TENR_HUMAN			13	3179	-	Renal(580;0.146)		1033			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3098T>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453076	0.84209	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.52754	0.65;0.65	5.5	5.5	0.81552	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.258491	0.38897	N	0.001523	T	0.50429	0.1615	M	0.68317	2.08	0.50313	D	0.999865	P	0.39480	0.675	B	0.39617	0.305	T	0.57254	-0.7843	10	0.72032	D	0.01	.	15.2747	0.73732	1.0:0.0:0.0:0.0	.	1033	Q92752	TENR_HUMAN	N	1033;1033;943	ENSP00000356646:I1033N;ENSP00000263525:I1033N	ENSP00000263525:I1033N	I	-	2	0	TNR	173592098	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.832000	0.92079	2.085000	0.62840	0.533000	0.62120	ATC		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		30	164	0	0	0	1	0	30	164					T	175325475	A	T	175325475	3	4	111	1	0	0	0	0	1	0	0	0	16335	333	12	5	1010	5	TNR	1	175325475	Missense_Mutation	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		175325475	73925146	1	1967											
MATN3	4148	broad.mit.edu	37	2	20205863	20205863	+	Silent	SNP	C	C	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:20205863C>T	ENST00000407540.3	-	2	494	c.432G>A	c.(430-432)caG>caA	p.Q144Q	MATN3_ENST00000421259.2_Silent_p.Q144Q|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	144	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCAGGGACTGCTTATCTG	0.567																																						uc002rdl.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13						c.(430-432)caG>caA		Homo sapiens matrilin 3 (MATN3), mRNA.							66	72	70					2																	20205863		2097	4227	6324	SO:0001819	synonymous_variant	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20205863C>T	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.432G>A	2.37:g.20205863C>T			Somatic				MATN3_uc010exu.1_Silent_p.Q144Q	p.Q144Q	NM_002381	NP_002372	WXS	Illumina GAIIx	Phase_I	O15232	MATN3_HUMAN			1	495	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		144			VWFA.		B2CPU0|Q4ZG02	Silent	SNP	ENST00000407540.3	37	c.432G>A	CCDS46226.1																																																																																				0.567	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		3	108	0	0	0	1	0	3	108					T	20205863	C	T	20205863	2	4	111	1	0	0	0	0	0	0	0	1	9335	564	20	2		2	MATN3	2	20205863	Silent	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08		20205863	222993510	2	1968											
TUBA3D	113457	broad.mit.edu	37	2	132235871	132235871	+	Silent	SNP	C	C	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr2:132235871C>T	ENST00000321253.6	+	2	245	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	46					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGGCGGGGACGACTCCTTCA	0.562																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(136-138)gaC>gaT		Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.							108	94	99					2																	132235871		2203	4300	6503	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132235871C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.138C>T	2.37:g.132235871C>T			Somatic					p.D46D	NM_080386	NP_525125	WXS	Illumina GAIIx	Phase_I	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	1	331	+			46					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.138C>T	CCDS33290.1																																																																																				0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		48	63	0	0	0	1	0	48	63					T	132235871	C	T	132235871	2	4	111	1	0	0	0	0	0	0	0	1	16744	535	19	1		1	TUBA3D	2	132235871	Silent	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08	112030008	132235871	110963502	3	1969											
WDFY3	23001	broad.mit.edu	37	4	85696234	85696235	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr4:85696234_85696235insT	ENST00000295888.4	-	28	4982_4983	c.4575_4576insA	c.(4573-4578)gaactgfs	p.L1526fs	WDFY3_ENST00000322366.6_Frame_Shift_Ins_p.L1526fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1526					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)		TCTGTGAGCAGTTCAATAAAGT	0.297																																						uc003hpd.3																			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.(4573-4578)gaactgfs		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85696234_85696235insT	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4576dupA	4.37:g.85696236_85696236dupT	ENSP00000295888:p.Leu1526fs		Somatic					p.E1525fs	NM_014991	NP_055806	WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	27	4983_4984	-		Hepatocellular(203;0.114)	1525					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Ins	INS	ENST00000295888.4	37	c.4575_4576insA	CCDS3609.1																																																																																				0.297	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		34	46						34	46	---	---	---	---	T	85696235	-	T	85696234	7	5	111	1	0	1	1	0	0	0	0	0	17267	1020	36	0	6168	0	WDFY3	4	85696234	Frame_Shift_Ins	INS	-	TCGA-DJ-A3UR-01A-11D-A22D-08		85696234	105458042	4	1970											
PCDHB14	56122	broad.mit.edu	37	5	140603736	140603736	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:140603736C>A	ENST00000239449.4	+	1	659	c.659C>A	c.(658-660)cCg>cAg	p.P220Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P67Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	220	Cadherin 2. {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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGATCCCCGCCCAAGTCT	0.478																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(658-660)cCg>cAg		Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.							65	67	67					5																	140603736		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603736C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.659C>A	5.37:g.140603736C>A	ENSP00000239449:p.Pro220Gln		Somatic					p.P220Q	NM_018934	NP_061757	WXS	Illumina GAIIx	Phase_I	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	659	+			220			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.659C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	17.61	3.432767	0.62844	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.55588	0.51;0.51	4.75	3.87	0.44632	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83436	0.5254	H	0.99130	4.44	0.43073	D	0.99471	D	0.89917	1.0	D	0.87578	0.998	D	0.90157	0.4225	9	0.87932	D	0	.	14.152	0.65392	0.1514:0.8486:0.0:0.0	.	220	Q9Y5E9	PCDBE_HUMAN	Q	67;220	ENSP00000444518:P67Q;ENSP00000239449:P220Q	ENSP00000239449:P220Q	P	+	2	0	PCDHB14	140583920	1.000000	0.71417	0.529000	0.27951	0.980000	0.70556	7.445000	0.80570	1.107000	0.41642	0.655000	0.94253	CCG		0.478	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		3	122	0	0	0	1	0	3	122					A	140603736	C	A	140603736	3	1	111	1	0	0	0	0	1	0	0	0	11539	652	23	4	661	4	PCDHB14	5	140603736	Missense_Mutation	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08		140603736	40311524	5	1971											
TNIP1	10318	broad.mit.edu	37	5	150411907	150411907	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr5:150411907C>T	ENST00000389378.2	-	17	2405	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	TNIP1_ENST00000522226.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000523200.1_Missense_Mutation_p.R542Q|TNIP1_ENST00000518977.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000521591.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000523338.1_Missense_Mutation_p.R606Q|TNIP1_ENST00000315050.7_Missense_Mutation_p.R606Q|TNIP1_ENST00000520931.1_Missense_Mutation_p.R553Q	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	606	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)	p.R606Q(1)		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)			ATTTGGATTTCGAACCCCTCC	0.512																																						uc003lti.3																			1	Substitution - Missense(1)	p.R606Q(2)	ovary(1)	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.(1816-1818)cGa>cAa		Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.							93	87	89					5																	150411907		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150411907C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1817G>A	5.37:g.150411907C>T	ENSP00000374029:p.Arg606Gln		Somatic				TNIP1_uc011dcn.2_Missense_Mutation_p.R124Q|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.R489Q|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Missense_Mutation_p.R542Q|TNIP1_uc010jhr.2_Missense_Mutation_p.R606Q|TNIP1_uc011dco.2_Missense_Mutation_p.E612K|TNIP1_uc003ltg.3_Missense_Mutation_p.R553Q|TNIP1_uc003ltk.3_Missense_Mutation_p.R606Q|TNIP1_uc003ltj.3_Missense_Mutation_p.R606Q|TNIP1_uc021ygb.1_Missense_Mutation_p.R606Q	p.R606Q	NM_006058	NP_006049	WXS	Illumina GAIIx	Phase_I	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2058	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	606			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.1817G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339004	0.24253	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000523200	T;T;T;T;T;T;T;T	0.15139	2.45;2.47;2.47;2.51;2.47;2.47;2.51;2.55	3.83	2.06	0.26882	.	0.134223	0.48286	D	0.000194	T	0.17195	0.0413	L	0.54323	1.7	0.18873	N	0.999987	P;B;B;B	0.47302	0.893;0.221;0.293;0.293	B;B;B;B	0.43360	0.417;0.082;0.03;0.03	T	0.08106	-1.0738	10	0.56958	D	0.05	-6.5299	7.9534	0.30027	0.0:0.7997:0.0:0.2003	.	496;542;606;606	A4F1X7;E7ET96;A4F1W9;Q15025	.;.;.;TNIP1_HUMAN	Q	553;606;606;606;499;568;606;606;606;542	ENSP00000429891:R553Q;ENSP00000374029:R606Q;ENSP00000317891:R606Q;ENSP00000428243:R606Q;ENSP00000428187:R606Q;ENSP00000430760:R606Q;ENSP00000430971:R606Q;ENSP00000431105:R542Q	ENSP00000317891:R606Q	R	-	2	0	TNIP1	150392100	0.055000	0.20627	0.115000	0.21578	0.280000	0.26924	0.310000	0.19356	0.594000	0.29761	0.561000	0.74099	CGA		0.512	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		3	58	0	0	0	1	0	3	58					T	150411907	C	T	150411907	3	4	111	1	0	0	0	0	1	0	0	0	16311	884	31	1	101	1	TNIP1	5	150411907	Missense_Mutation	SNP	C	TCGA-DJ-A3UR-01A-11D-A22D-08	9808171	150411907	30503353	6	1972											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	59	0	0	0	1	0	43	59					T	140453136	A	T	140453136	3	4	111	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		140453136	18685527	7	1973											
ANK1	286	broad.mit.edu	37	8	41530310	41530310	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr8:41530310G>A	ENST00000347528.4	-	38	4741	c.4658C>T	c.(4657-4659)gCg>gTg	p.A1553V	ANK1_ENST00000396942.1_Missense_Mutation_p.A1553V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1553V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1553V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1594V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1553V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1553V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1553	55 kDa regulatory domain.				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)			CTCCGTGGCCGCCAAGGGGAT	0.622																																						uc003xom.3																			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.(4780-4782)gCg>gTg		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.							43	42	42					8																	41530310		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.chr8:41530310G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4658C>T	8.37:g.41530310G>A	ENSP00000339620:p.Ala1553Val		Somatic				NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.A1553V|ANK1_uc003xoj.3_Missense_Mutation_p.A1553V|ANK1_uc003xok.3_Missense_Mutation_p.A1553V|ANK1_uc003xol.3_Intron	p.A1594V	NM_001142446	NP_001135918	WXS	Illumina GAIIx	Phase_I	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)		38	5063	-	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)	1553			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4781C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069112	0.55539	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.68765	-0.33;-0.35;-0.3;-0.29;-0.31;-0.29;-0.32	5.24	3.46	0.39613	.	0.062523	0.64402	N	0.000006	T	0.59018	0.2163	L	0.55481	1.735	0.53005	D	0.999967	B;B;B;B	0.20887	0.049;0.014;0.028;0.049	B;B;B;B	0.20577	0.025;0.013;0.03;0.025	T	0.54450	-0.8292	10	0.40728	T	0.16	.	9.7624	0.40541	0.1585:0.0:0.8415:0.0	.	1594;1553;1553;1553	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	V	1553;1553;1553;1553;1553;1553;1594	ENSP00000339620:A1553V;ENSP00000289734:A1553V;ENSP00000369082:A1553V;ENSP00000380149:A1553V;ENSP00000380147:A1553V;ENSP00000309131:A1553V;ENSP00000265709:A1594V	ENSP00000265709:A1594V	A	-	2	0	ANK1	41649467	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.371000	0.73119	0.734000	0.32515	0.552000	0.68991	GCG		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		3	59	0	0	0	1	0	3	59					A	41530310	G	A	41530310	3	1	111	1	0	0	0	0	1	0	0	0	620	1087	38	1	1333	1	ANK1	8	41530310	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		41530310	104833712	8	1974											
KCNA4	3739	broad.mit.edu	37	11	30033580	30033580	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr11:30033580G>A	ENST00000328224.6	-	2	1879	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TACTCATTGCGCAAAGGGTCA	0.483																																						uc001msk.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(646-648)Cgc>Tgc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.							70	65	67					11																	30033580		1864	4109	5973	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033580G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.646C>T	11.37:g.30033580G>A	ENSP00000328511:p.Arg216Cys		Somatic				KCNA4_uc021qfi.1_Missense_Mutation_p.R216C	p.R216C	NM_002233	NP_002224	WXS	Illumina GAIIx	Phase_I	P22459	KCNA4_HUMAN			1	1887	-			216						Missense_Mutation	SNP	ENST00000328224.6	37	c.646C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971813	0.53614	.	.	ENSG00000182255	ENST00000328224	T	0.77489	-1.1	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	P	0.54590	0.756	D	0.88342	0.2975	10	0.87932	D	0	.	12.4793	0.55833	0.0:0.0:0.7169:0.283	.	216	P22459	KCNA4_HUMAN	C	216	ENSP00000328511:R216C	ENSP00000328511:R216C	R	-	1	0	KCNA4	29990156	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	2.587000	0.46128	2.297000	0.77311	0.655000	0.94253	CGC		0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		4	101	0	0	0	1	0	4	101					A	30033580	G	A	30033580	3	1	111	1	0	0	0	0	1	0	0	0	8005	1087	38	1	1319	1	KCNA4	11	30033580	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		30033580	104972936	9	1975											
LOH12CR1	118426	broad.mit.edu	37	12	12514275	12514275	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr12:12514275T>C	ENST00000314565.4	+	2	525	c.194T>C	c.(193-195)cTt>cCt	p.L65P	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L46P|LOH12CR1_ENST00000298571.6_Intron	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	65										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TTCCAGCCCCTTTTGAAAGGT	0.468																																						uc001ral.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(193-195)cTt>cCt		Homo sapiens loss of heterozygosity, 12, chromosomal region 1 (LOH12CR1), mRNA.							163	153	156					12																	12514275		2203	4300	6503	SO:0001583	missense	118426							g.chr12:12514275T>C	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.194T>C	12.37:g.12514275T>C	ENSP00000321546:p.Leu65Pro		Somatic				LOH12CR1_uc009zhu.2_Intron	p.L65P	NM_058169	NP_477517	WXS	Illumina GAIIx	Phase_I	Q969J3	L12R1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0205)	1	560	+		Prostate(47;0.0802)	65					Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	c.194T>C	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769467	0.69992	.	.	ENSG00000165714	ENST00000542728;ENST00000314565	T;T	0.52295	0.67;0.67	6.02	6.02	0.97574	.	0.115240	0.64402	D	0.000012	T	0.59851	0.2224	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.62338	-0.6875	10	0.87932	D	0	-11.2834	16.2181	0.82241	0.0:0.0:0.0:1.0	.	65	Q969J3	L12R1_HUMAN	P	46;65	ENSP00000443023:L46P;ENSP00000321546:L65P	ENSP00000321546:L65P	L	+	2	0	LOH12CR1	12405542	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.602000	0.82796	2.311000	0.77944	0.533000	0.62120	CTT		0.468	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			3	153	0	0	0	1	0	3	153					C	12514275	T	C	12514275	3	2	111	1	0	0	0	0	1	0	0	0	8891	1609	56	3	200	3	LOH12CR1	12	12514275	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08		12514275	121337620	10	1976											
ADAMTS7	11173	broad.mit.edu	37	15	79056079	79056079	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr15:79056079G>T	ENST00000388820.4	-	22	4912	c.4702C>A	c.(4702-4704)Cac>Aac	p.H1568N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1568					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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGCAGGGGTGGGTGTTGCAG	0.711																																						uc002bej.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4702-4704)Cac>Aac		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.							9	11	11					15																	79056079		2109	4154	6263	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79056079G>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4702C>A	15.37:g.79056079G>T	ENSP00000373472:p.His1568Asn		Somatic					p.H1568N	NM_014272	NP_055087	WXS	Illumina GAIIx	Phase_I	Q9UKP4	ATS7_HUMAN			21	4913	-			1568					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4702C>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	18.46	3.628806	0.67015	.	.	ENSG00000136378	ENST00000388820	T	0.52754	0.65	4.42	4.42	0.53409	.	0.201008	0.43260	D	0.000593	T	0.47229	0.1434	L	0.33245	0.995	0.45733	D	0.99863	P	0.48998	0.918	P	0.49477	0.612	T	0.50466	-0.8825	10	0.52906	T	0.07	.	15.5879	0.76499	0.0:0.0:1.0:0.0	.	1568	Q9UKP4	ATS7_HUMAN	N	1568	ENSP00000373472:H1568N	ENSP00000373472:H1568N	H	-	1	0	ADAMTS7	76843134	1.000000	0.71417	0.997000	0.53966	0.604000	0.37047	7.237000	0.78164	1.985000	0.57927	0.574000	0.79327	CAC		0.711	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	32	0	0	0	1	0	3	32					T	79056079	G	T	79056079	3	4	111	1	0	0	0	0	1	0	0	0	271	1348	47	4	370	4	ADAMTS7	15	79056079	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		79056079	23475313	11	1977											
MYO15A	51168	broad.mit.edu	37	17	18029723	18029723	+	Silent	SNP	G	G	A	rs577577209		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr17:18029723G>A	ENST00000205890.5	+	5	4157	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1273	Myosin motor.				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)					TCTATGGGCCGGAGCAGGTGC	0.622																																						uc021trm.1																			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.(3817-3819)ccG>ccA		Homo sapiens myosin XVA (MYO15A), mRNA.							66	72	70					17																	18029723		2050	4193	6243	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18029723G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3819G>A	17.37:g.18029723G>A			Somatic				MYO15A_uc021trl.1_Silent_p.P1273P	p.P1273P	NM_016239	NP_057323	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			3	4038	+	all_neural(463;0.228)		1273			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.3819G>A	CCDS42271.1																																																																																				0.622	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	88	0	0	0	1	0	3	88					A	18029723	G	A	18029723	2	1	111	1	0	0	0	0	0	0	0	1	10063	1103	39	1		1	MYO15A	17	18029723	Silent	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		18029723	63165487	12	1978											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						uc002mkp.3																			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.(982-984)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G			Somatic					p.P328P	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	1188	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	100	0	0	0	1	0	3	100					G	9090831	A	G	9090831	2	3	111	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-DJ-A3UR-01A-11D-A22D-08		9090831	50038152	13	1979											
CYP2A13	1553	broad.mit.edu	37	19	41599590	41599590	+	Missense_Mutation	SNP	T	T	C	rs202067963		TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:41599590T>C	ENST00000330436.3	+	6	887	c.887T>C	c.(886-888)cTg>cCg	p.L296P		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	296					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)	ATGACCACCCTGAACCTCTTC	0.557																																						uc002opt.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(886-888)cTg>cCg		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)						119	99	106					19																	41599590		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.chr19:41599590T>C	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.887T>C	19.37:g.41599590T>C	ENSP00000332679:p.Leu296Pro		Somatic					p.L296P	NM_000766	NP_000757	WXS	Illumina GAIIx	Phase_I	Q16696	CP2AD_HUMAN			5	896	+			296					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.887T>C	CCDS12571.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	17.17	3.322080	0.60634	.	.	ENSG00000197838	ENST00000330436	T	0.01505	4.82	4.58	3.56	0.40772	.	0.089700	0.47093	D	0.000254	T	0.08626	0.0214	M	0.76838	2.35	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.01448	-1.1352	10	0.51188	T	0.08	.	9.3287	0.38008	0.0:0.0879:0.0:0.9121	.	296	Q16696	CP2AD_HUMAN	P	296	ENSP00000332679:L296P	ENSP00000332679:L296P	L	+	2	0	CYP2A13	46291430	0.425000	0.25498	0.196000	0.23383	0.900000	0.52787	3.583000	0.53928	0.800000	0.34041	0.397000	0.26171	CTG		0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		3	118	0	0	0	1	0	3	118					C	41599590	T	C	41599590	3	2	111	1	0	0	0	0	1	0	0	0	4161	1580	55	3	909	3	CYP2A13	19	41599590	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08	32508759	41599590	17529393	14	1980											
GP6	51206	broad.mit.edu	37	19	55525819	55525819	+	3'UTR	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:55525819G>A	ENST00000417454.1	-	0	1517				GP6_ENST00000333884.2_3'UTR|GP6_ENST00000310373.3_Silent_p.C498C|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TTGTTAGACCGCAGTGGGAGA	0.502																																						uc002qil.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1492-1494)tgC>tgT		Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 1, mRNA.							104	103	103					19																	55525819		1955	4151	6106	SO:0001624	3_prime_UTR_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55525819G>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*470C>T	19.37:g.55525819G>A			Somatic				GP6_uc002qik.3_3'UTR|GP6_uc010esq.3_3'UTR	p.C498C	NM_001083899	NP_001077368	WXS	Illumina GAIIx	Phase_I	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	7	1522	-			0					Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	c.1494C>T	CCDS46184.1																																																																																				0.502	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			4	147	0	0	0	1	0	4	147					A	55525819	G	A	55525819	1	1	111	0	1	0	0	0	0	0	0	0	6584	1079	38	1		1	GP6	19	55525819	3'UTR	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08	13926229	55525819	3603164	15	1981											
ZNF211	10520	broad.mit.edu	37	19	58152518	58152518	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr19:58152518T>C	ENST00000347302.3	+	3	843	c.664T>C	c.(664-666)Ttt>Ctt	p.F222L	ZNF211_ENST00000391703.3_Missense_Mutation_p.F161L|ZNF211_ENST00000544273.1_Missense_Mutation_p.F234L|ZNF211_ENST00000299871.5_Missense_Mutation_p.F287L|ZNF211_ENST00000240731.4_Missense_Mutation_p.F235L|ZNF211_ENST00000254182.7_Missense_Mutation_p.F213L|ZNF211_ENST00000541801.1_Missense_Mutation_p.F213L|ZNF211_ENST00000420680.1_Missense_Mutation_p.F226L	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	222					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCGGTGGCCTTTTACAGTGG	0.468																																						uc002qpr.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(856-858)Ttt>Ctt		Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.							64	65	65					19																	58152518		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152518T>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.664T>C	19.37:g.58152518T>C	ENSP00000339562:p.Phe222Leu		Somatic				ZNF211_uc010yhb.1_Missense_Mutation_p.F226L|ZNF211_uc002qpp.2_Missense_Mutation_p.F235L|ZNF211_uc002qpq.2_Missense_Mutation_p.F222L|ZNF211_uc002qpt.2_Missense_Mutation_p.F234L|ZNF211_uc010yhc.1_Missense_Mutation_p.F234L|ZNF211_uc010yhe.1_Missense_Mutation_p.F213L|ZNF211_uc010yhd.1_Missense_Mutation_p.F161L	p.F286L	NM_006385	NP_006376	WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1159	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	222					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.856T>C	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.61|12.61	1.990381|1.990381	0.35131|0.35131	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	3.24|3.24	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	M|M	0.77406|0.77406	2.37|2.37	0.09310|0.09310	N|N	1|1	B;B;P;B;B;B|.	0.47106|.	0.005;0.023;0.89;0.2;0.014;0.014|.	B;B;P;B;B;B|.	0.45881|.	0.002;0.01;0.496;0.069;0.004;0.004|.	T|T	0.46707|0.46707	-0.9172|-0.9172	9|5	0.62326|.	D|.	0.03|.	.|.	7.1857|7.1857	0.25799|0.25799	0.0:0.2075:0.0:0.7925|0.0:0.2075:0.0:0.7925	.|.	226;234;287;213;222;235|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	L|P	226;222;213;161;213;287;234;235|225	ENSP00000399193:F226L;ENSP00000339562:F222L;ENSP00000254182:F213L;ENSP00000375584:F161L;ENSP00000442601:F213L;ENSP00000299871:F287L;ENSP00000441386:F234L;ENSP00000240731:F235L|.	ENSP00000240731:F235L|.	F|L	+|+	1|2	0|0	ZNF211|ZNF211	62844330|62844330	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	.|.	.|.	0.175000|0.175000	0.19841|0.19841	0.482000|0.482000	0.46254|0.46254	TTT|CTT		0.468	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	97	0	0	0	1	0	3	97					C	58152518	T	C	58152518	3	2	111	1	0	0	0	0	1	0	0	0	17764	1609	56	3	717	3	ZNF211	19	58152518	Missense_Mutation	SNP	T	TCGA-DJ-A3UR-01A-11D-A22D-08	2626699	58152518	976465	16	1982											
GNAS	2778	broad.mit.edu	37	20	57429071	57429071	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chr20:57429071G>C	ENST00000371100.4	+	1	1303	c.751G>C	c.(751-753)Ggc>Cgc	p.G251R	GNAS_ENST00000371102.4_Missense_Mutation_p.G251R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Silent_p.T187T|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.G251R	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAAGTCGACGGCAGCAGCCA	0.677			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.3				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(751-753)Ggc>Cgc		Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.							10	12	11					20																	57429071		1813	3983	5796	SO:0001583	missense	2778				G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429071G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.751G>C	20.37:g.57429071G>C	ENSP00000360141:p.Gly251Arg	TSP Lung(22;0.16)	Somatic				GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	p.G251R	NM_080425	NP_001070958	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		0	1036	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.751G>C	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655164	0.03480	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88664	-2.41;-2.41	3.85	-4.71	0.03279	.	29.331100	0.00166	N	0.000000	T	0.75019	0.3793	N	0.19112	0.55	0.09310	N	1	P	0.49862	0.929	B	0.40702	0.338	T	0.70916	-0.4742	10	0.16420	T	0.52	.	0.2707	0.00231	0.3454:0.1391:0.2327:0.2827	.	251	Q5JWF2	GNAS1_HUMAN	R	251	ENSP00000360141:G251R;ENSP00000360143:G251R	ENSP00000360140:G251R	G	+	1	0	GNAS	56862466	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.288000	0.02783	-0.898000	0.03906	-0.218000	0.12543	GGC		0.677	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		15	14	0	0	0	1	0	15	14					C	57429071	G	C	57429071	3	2	111	1	0	0	0	0	1	0	0	0	6510	1116	39	4	1495	4	GNAS	20	57429071	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		57429071	5596449	17	1983											
HCCS	3052	broad.mit.edu	37	X	11139095	11139095	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UR-01A-11D-A22D-08	TCGA-DJ-A3UR-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6241539c-6660-4bd4-a960-51fcfc3e9259	d924686d-bf80-4471-b658-c02bd6b4e7ba	g.chrX:11139095G>A	ENST00000321143.4	+	6	792	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	HCCS_ENST00000380762.4_Missense_Mutation_p.R197Q|HCCS_ENST00000380763.3_Missense_Mutation_p.R197Q|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	197					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CCAAGGGCACGAATTCGTTCC	0.453																																					Ovarian(86;1338 1347 1462 10340 37882)	uc004cul.2																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(589-591)cGa>cAa		Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.							196	176	183					X																	11139095		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139095G>A		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.590G>A	X.37:g.11139095G>A	ENSP00000326579:p.Arg197Gln		Somatic				HCCS_uc004cuk.3_Missense_Mutation_p.R197Q|HCCS_uc004cuj.3_Missense_Mutation_p.R197Q	p.R197Q	NM_001171991	NP_005324	WXS	Illumina GAIIx	Phase_I	P53701	CCHL_HUMAN			5	770	+			197					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.590G>A	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915362	0.73098	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.83335	-1.71;-1.71;-1.71	5.94	4.17	0.49024	.	0.085015	0.85682	D	0.000000	D	0.86711	0.5998	M	0.79123	2.44	0.80722	D	1	D	0.56746	0.977	P	0.54629	0.757	D	0.86340	0.1704	10	0.51188	T	0.08	-15.4568	9.0573	0.36414	0.1789:0.0:0.8211:0.0	.	197	P53701	CCHL_HUMAN	Q	197	ENSP00000326579:R197Q;ENSP00000370140:R197Q;ENSP00000370139:R197Q	ENSP00000326579:R197Q	R	+	2	0	HCCS	11049016	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.123000	0.71614	1.271000	0.44313	0.600000	0.82982	CGA		0.453	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			11	244	0	0	0	1	0	11	244					A	11139095	G	A	11139095	3	1	111	1	0	0	0	0	1	0	0	0	6990	1058	37	1	608	1	HCCS	23	11139095	Missense_Mutation	SNP	G	TCGA-DJ-A3UR-01A-11D-A22D-08		11139095	144131465	18	1984											
ILDR2	387597	broad.mit.edu	37	1	166889963	166889963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:166889963delT	ENST00000271417.3	-	9	1920	c.1865delA	c.(1864-1866)aagfs	p.K622fs	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Frame_Shift_Del_p.K514fs|ILDR2_ENST00000525740.1_Frame_Shift_Del_p.K495fs|ILDR2_ENST00000528703.1_Frame_Shift_Del_p.K563fs|ILDR2_ENST00000529071.1_Frame_Shift_Del_p.K603fs|ILDR2_ENST00000469934.2_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	622					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCGGGCTCCTTTTTCCTCTT	0.682																																						uc001gdx.2																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1864-1866)aagfs		Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.							10	14	12					1																	166889963		2173	4245	6418	SO:0001589	frameshift_variant	387597					integral to membrane		g.chr1:166889963delT	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1865delA	1.37:g.166889963delT	ENSP00000271417:p.Lys622fs		Somatic					p.K622fs	NM_199351	NP_955383	WXS	Illumina GAIIx	Phase_I	Q71H61	ILDR2_HUMAN			8	1921	-			622						Frame_Shift_Del	DEL	ENST00000271417.3	37	c.1865delA	CCDS1256.1																																																																																				0.682	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		2	4						2	4	---	---	---	---	-	166889963	T	-	166889963	7	5	112	1	0	1	0	1	0	0	0	0	7710	1609	56	0	62	0	ILDR2	1	166889963	Frame_Shift_Del	DEL	T	TCGA-DJ-A3US-01A-11D-A22D-08		166889963	82360658	1	1985											
C4BPA	722	broad.mit.edu	37	1	207317265	207317265	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:207317265G>A	ENST00000367070.3	+	11	1741	c.1547G>A	c.(1546-1548)gGt>gAt	p.G516D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	516	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTGGCTATGGTGTGGTTGGT	0.473																																						uc001hfo.3																			0		p.Y515*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1546-1548)gGt>gAt		Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.							217	188	198					1																	207317265		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317265G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1547G>A	1.37:g.207317265G>A	ENSP00000356037:p.Gly516Asp		Somatic					p.G516D	NM_000715	NP_000706	WXS	Illumina GAIIx	Phase_I	P04003	C4BPA_HUMAN			10	1741	+			516			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1547G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	6.049	0.377326	0.11466	.	.	ENSG00000123838	ENST00000367070	T	0.63417	-0.04	5.29	-10.6	0.00265	Complement control module (2);Sushi/SCR/CCP (3);	3.283670	0.00481	N	0.000121	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B	0.28208	0.203	B	0.31614	0.133	T	0.19289	-1.0310	10	0.12430	T	0.62	.	5.1886	0.15197	0.5668:0.2352:0.1073:0.0907	.	516	P04003	C4BPA_HUMAN	D	516	ENSP00000356037:G516D	ENSP00000356037:G516D	G	+	2	0	C4BPA	205383888	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.147000	0.03188	-2.162000	0.00784	-0.157000	0.13467	GGT		0.473	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			19	88	0	0	0	1	0	19	88					A	207317265	G	A	207317265	3	1	112	1	0	0	0	0	1	0	0	0	2249	1261	44	2	1585	2	C4BPA	1	207317265	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	40427302	207317265	41933356	2	1986											
TRANK1	9881	broad.mit.edu	37	3	36873948	36873948	+	Missense_Mutation	SNP	T	T	C	rs201976066		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr3:36873948T>C	ENST00000429976.2	-	21	7241	c.6994A>G	c.(6994-6996)Aga>Gga	p.R2332G	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1782G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1782G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2332							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCTGCCTCTCCCCCTGCCC	0.507																																						uc003cgj.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6994-6996)Aga>Gga		Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.							117	119	118					3																	36873948		1918	4122	6040	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873948T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6994A>G	3.37:g.36873948T>C	ENSP00000416168:p.Arg2332Gly		Somatic					p.R2332G	NM_014831	NP_055646	WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			20	7242	-			2332					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6994A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	3.576	-0.086656	0.07097	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34072	1.38;1.78;1.38	5.16	-2.15	0.07102	.	0.178818	0.26696	N	0.022979	T	0.23171	0.0560	L	0.29908	0.895	0.09310	N	1	B	0.23937	0.094	B	0.21917	0.037	T	0.28964	-1.0027	10	0.54805	T	0.06	.	11.3034	0.49320	0.0:0.0721:0.5657:0.3622	.	2332	O15050	TRNK1_HUMAN	G	1782;2332;1782	ENSP00000416826:R1782G;ENSP00000416168:R2332G;ENSP00000301807:R1782G	ENSP00000301807:R1782G	R	-	1	2	TRANK1	36848952	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.313000	0.19415	0.021000	0.15133	0.459000	0.35465	AGA		0.507	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		3	109	0	0	0	1	0	3	109					C	36873948	T	C	36873948	3	2	112	1	0	0	0	0	1	0	0	0	16451	1559	54	3	1795	3	TRANK1	3	36873948	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08		36873948	161148482	3	1987											
SMARCA5	8467	broad.mit.edu	37	4	144467147	144467147	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr4:144467147G>C	ENST00000283131.3	+	19	2929	c.2467G>C	c.(2467-2469)Gct>Cct	p.A823P		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	823					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATTGATGAAGCTGAATCCCT	0.358																																						uc003ijg.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2467-2469)Gct>Cct		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.							83	86	85					4																	144467147		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144467147G>C	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2467G>C	4.37:g.144467147G>C	ENSP00000283131:p.Ala823Pro		Somatic					p.A823P	NM_003601	NP_003592	WXS	Illumina GAIIx	Phase_I	O60264	SMCA5_HUMAN			18	2929	+	all_hematologic(180;0.158)		823						Missense_Mutation	SNP	ENST00000283131.3	37	c.2467G>C	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999194	0.93227	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91740	-2.9	5.3	5.3	0.74995	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.93419	0.7901	M	0.85299	2.745	0.80722	D	1	B	0.24675	0.109	B	0.29942	0.109	D	0.91230	0.5013	10	0.39692	T	0.17	-5.3827	19.336	0.94319	0.0:0.0:1.0:0.0	.	823	O60264	SMCA5_HUMAN	P	823;766;766	ENSP00000283131:A823P	ENSP00000283131:A823P	A	+	1	0	SMARCA5	144686597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.168000	0.94781	2.643000	0.89663	0.655000	0.94253	GCT		0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			29	44	0	0	0	1	0	29	44					C	144467147	G	C	144467147	3	2	112	1	0	0	0	0	1	0	0	0	14771	971	34	4	2541	4	SMARCA5	4	144467147	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		144467147	46687129	4	1988											
IL33	90865	broad.mit.edu	37	9	6251164	6251164	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:6251164T>C	ENST00000381434.3	+	3	255	c.242T>C	c.(241-243)gTa>gCa	p.V81A	IL33_ENST00000456383.2_Missense_Mutation_p.V81A|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	81	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGACATCTGGTACTCGCTGCC	0.468																																						uc003zjt.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(241-243)gTa>gCa		Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.							173	135	148					9																	6251164		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6251164T>C	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"Interleukins and interleukin receptors"	16028	protein-coding gene	gene with protein product	"DVS27-related protein", "nuclear factor for high endothelial venules", "interleukin-1 family, member 11"	608678	"chromosome 9 open reading frame 26 (NF-HEV)"	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.242T>C	9.37:g.6251164T>C	ENSP00000370842:p.Val81Ala		Somatic				IL33_uc011lmg.2_Missense_Mutation_p.V81A|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron	p.V81A	NM_033439	NP_254274	WXS	Illumina GAIIx	Phase_I	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	3	320	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	81					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.242T>C	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	T	7.617	0.676077	0.14841	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.40225	1.04;1.04	3.17	-2.35	0.06684	.	4.389550	0.00357	N	0.000038	T	0.27524	0.0676	N	0.21097	0.63	0.09310	N	1	B;B	0.20550	0.046;0.017	B;B	0.15484	0.013;0.007	T	0.12344	-1.0551	10	0.41790	T	0.15	5.7744	4.1976	0.10450	0.0:0.4287:0.212:0.3592	.	81;81	B4E1Q9;O95760	.;IL33_HUMAN	A	81	ENSP00000414238:V81A;ENSP00000370842:V81A	ENSP00000370842:V81A	V	+	2	0	IL33	6241164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.583000	0.05807	-0.486000	0.06744	-0.417000	0.06048	GTA		0.468	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		3	66	0	0	0	1	0	3	66					C	6251164	T	C	6251164	3	2	112	1	0	0	0	0	1	0	0	0	7693	1638	57	3	252	3	IL33	9	6251164	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08		6251164	134962267	5	1989											
FAM129B	64855	broad.mit.edu	37	9	130270798	130270798	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:130270798T>C	ENST00000373312.3	-	11	1550	c.1337A>G	c.(1336-1338)tAt>tGt	p.Y446C	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.Y433C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	446					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCGAACGTATACACGGCATT	0.637																																						uc004brh.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1336-1338)tAt>tGt		Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.							147	140	142					9																	130270798		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270798T>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1337A>G	9.37:g.130270798T>C	ENSP00000362409:p.Tyr446Cys		Somatic				FAM129B_uc004bri.3_Missense_Mutation_p.Y433C|FAM129B_uc004brj.4_Missense_Mutation_p.Y446C	p.Y446C	NM_022833	NP_073744	WXS	Illumina GAIIx	Phase_I	Q96TA1	NIBL1_HUMAN			10	1539	-			446					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1337A>G	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041419	0.75732	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.36520	1.26;1.25	5.36	5.36	0.76844	.	0.056587	0.64402	D	0.000001	T	0.58481	0.2125	M	0.73217	2.22	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.61048	-0.7141	10	0.54805	T	0.06	-32.8097	13.2945	0.60288	0.0:0.0:0.0:1.0	.	96;433;446	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	C	433;96;446	ENSP00000362411:Y433C;ENSP00000362409:Y446C	ENSP00000362409:Y446C	Y	-	2	0	FAM129B	129310619	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.357000	0.44125	2.025000	0.59659	0.459000	0.35465	TAT		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		13	222	0	0	0	1	0	13	222					C	130270798	T	C	130270798	3	2	112	1	0	0	0	0	1	0	0	0	5437	1406	49	3	919	3	FAM129B	9	130270798	Missense_Mutation	SNP	T	TCGA-DJ-A3US-01A-11D-A22D-08	124019634	130270798	10942633	6	1990											
MMP8	4317	broad.mit.edu	37	11	102584153	102584153	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr11:102584153C>A	ENST00000236826.3	-	10	1428	c.1330G>T	c.(1330-1332)Gca>Tca	p.A444S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	444					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGATCAAATGCGTAATATCTT	0.343																																						uc001phe.2																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(1330-1332)Gca>Tca		Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.							160	139	146					11																	102584153		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584153C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1330G>T	11.37:g.102584153C>A	ENSP00000236826:p.Ala444Ser		Somatic				MMP8_uc010rut.1_3'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.A421S	p.A444S	NM_002424	NP_002415	WXS	Illumina GAIIx	Phase_I	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	9	1429	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	444			Hemopexin-like 4.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1330G>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754916	0.31046	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.13538	2.58	5.44	3.22	0.36961	Hemopexin/matrixin (2);	0.386473	0.22269	N	0.062295	T	0.13200	0.0320	L	0.44542	1.39	0.21499	N	0.999661	P;B	0.40197	0.706;0.297	B;B	0.40741	0.339;0.339	T	0.10109	-1.0644	10	0.72032	D	0.01	.	8.6612	0.34093	0.0:0.7985:0.0:0.2015	.	444;444	A8K9E4;P22894	.;MMP8_HUMAN	S	444;421	ENSP00000236826:A444S	ENSP00000236826:A444S	A	-	1	0	MMP8	102089363	0.040000	0.19996	0.847000	0.33407	0.216000	0.24613	0.119000	0.15626	1.290000	0.44636	0.563000	0.77884	GCA		0.343	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		3	97	0	0	0	1	0	3	97					A	102584153	C	A	102584153	3	1	112	1	0	0	0	0	1	0	0	0	9668	768	27	4	77	4	MMP8	11	102584153	Missense_Mutation	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		102584153	32422363	7	1991											
LRRC43	254050	broad.mit.edu	37	12	122687921	122687921	+	Missense_Mutation	SNP	G	G	A	rs538569275		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr12:122687921G>A	ENST00000339777.4	+	12	1931	c.1903G>A	c.(1903-1905)Gta>Ata	p.V635I	LRRC43_ENST00000425921.1_Missense_Mutation_p.V450I|B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000535274.1_5'Flank|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	635										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCCCTGACCGTAGAGGTGCA	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		11892	0		0	False		,,,				2504	0					uc009zxm.3																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1903-1905)Gta>Ata		Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.							74	81	79					12																	122687921		2001	4178	6179	SO:0001583	missense	254050							g.chr12:122687921G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1903G>A	12.37:g.122687921G>A	ENSP00000344233:p.Val635Ile		Somatic				LRRC43_uc001ubw.4_Missense_Mutation_p.V450I|LRRC43_uc009zxn.3_Missense_Mutation_p.V396I|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	p.V635I	NM_001098519	NP_689972	WXS	Illumina GAIIx	Phase_I	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	1928	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		635					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1903G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007965	0.54361	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.65178	-0.14;0.34	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000007	T	0.77864	0.4194	M	0.74881	2.28	0.37340	D	0.910357	D	0.89917	1.0	D	0.71656	0.974	T	0.83041	-0.0157	10	0.66056	D	0.02	-42.254	15.2885	0.73849	0.0:0.0:1.0:0.0	.	635	Q8N309	LRC43_HUMAN	I	635;506;450	ENSP00000344233:V635I;ENSP00000416628:V450I	ENSP00000289014:V506I	V	+	1	0	LRRC43	121253874	0.997000	0.39634	0.992000	0.48379	0.036000	0.12997	2.964000	0.49192	2.433000	0.82419	0.561000	0.74099	GTA		0.592	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		4	98	0	0	0	1	0	4	98					A	122687921	G	A	122687921	3	1	112	1	0	0	0	0	1	0	0	0	9001	1145	40	1	1949	1	LRRC43	12	122687921	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		122687921	11163974	8	1992											
ZIC2	7546	broad.mit.edu	37	13	100637890	100637890	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr13:100637890G>T	ENST00000376335.3	+	3	1846	c.1553G>T	c.(1552-1554)gGg>gTg	p.G518V		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	518					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ggGACAGCCGGGGGTCACAGC	0.771																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1552-1554)gGg>gTg		Homo sapiens Zic family member 2 (ZIC2), mRNA.							9	11	10					13																	100637890		1680	3665	5345	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637890G>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1553G>T	13.37:g.100637890G>T	ENSP00000365514:p.Gly518Val		Somatic					p.G518V	NM_007129	NP_009060	WXS	Illumina GAIIx	Phase_I	O95409	ZIC2_HUMAN			2	1846	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		518					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1553G>T	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439581	0.43326	.	.	ENSG00000043355	ENST00000376335	D	0.96459	-4.02	3.69	3.69	0.42338	.	0.000000	0.49305	D	0.000157	D	0.94915	0.8356	L	0.34521	1.04	0.54753	D	0.999986	D	0.69078	0.997	P	0.52386	0.697	D	0.95003	0.8145	10	0.54805	T	0.06	.	14.5095	0.67774	0.0:0.0:1.0:0.0	.	518	O95409	ZIC2_HUMAN	V	518	ENSP00000365514:G518V	ENSP00000365514:G518V	G	+	2	0	ZIC2	99435891	0.995000	0.38212	0.977000	0.42913	0.995000	0.86356	-0.229000	0.09098	2.041000	0.60428	0.462000	0.41574	GGG		0.771	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		9	23	0	0	0	1	0	9	23					T	100637890	G	T	100637890	3	4	112	1	0	0	0	0	1	0	0	0	17676	1232	43	4	1563	4	ZIC2	13	100637890	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		100637890	14531988	9	1993											
MAP1A	4130	broad.mit.edu	37	15	43816894	43816894	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:43816894G>A	ENST00000300231.5	+	4	3673	c.3223G>A	c.(3223-3225)Gca>Aca	p.A1075T	MAP1A_ENST00000382031.1_Missense_Mutation_p.A1313T|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1075T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1075					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCCCAGGAAGCACCTGTCAA	0.532																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3223-3225)Gca>Aca		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						66	72	70					15																	43816894		1947	4137	6084	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816894G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3223G>A	15.37:g.43816894G>A	ENSP00000300231:p.Ala1075Thr		Somatic					p.A1075T	NM_002373	NP_002364	WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	3690	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1075					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3223G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.209826	0.01555	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01438	4.89;4.89;4.89	5.55	0.124	0.14714	.	1.118830	0.07056	N	0.832946	T	0.01156	0.0038	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50709	-0.8796	10	0.14252	T	0.57	-2.1833	1.1205	0.01724	0.2281:0.1693:0.3816:0.221	.	1075	P78559	MAP1A_HUMAN	T	1313;1075;1075	ENSP00000371462:A1313T;ENSP00000382380:A1075T;ENSP00000300231:A1075T	ENSP00000300231:A1075T	A	+	1	0	MAP1A	41604186	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.190000	0.09615	0.145000	0.18977	-0.126000	0.14955	GCA		0.532	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		3	120	0	0	0	1	0	3	120					A	43816894	G	A	43816894	3	1	112	1	0	0	0	0	1	0	0	0	9227	971	34	2	3225	2	MAP1A	15	43816894	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		43816894	58714498	10	1994											
C15orf42	90381	broad.mit.edu	37	15	90129030	90129030	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:90129030G>A	ENST00000268138.7	+	4	1373	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.R422H			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	423					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTGTGTGCCGCACCAAGGAG	0.542																																						uc002boe.3																			0				NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59						c.(1267-1269)cGc>cAc		Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.							86	88	87					15																	90129030		1978	4151	6129	SO:0001583	missense	90381				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90129030G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1268G>A	15.37:g.90129030G>A	ENSP00000268138:p.Arg423His		Somatic				C15orf42_uc021sug.1_Missense_Mutation_p.R422H	p.R423H	NM_152259	NP_689472	WXS	Illumina GAIIx	Phase_I	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		3	1268	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		423					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.1268G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	g	3.132	-0.178303	0.06380	.	.	ENSG00000140534	ENST00000268138	T	0.13901	2.55	5.24	-2.38	0.06622	.	0.846013	0.11198	N	0.589141	T	0.08447	0.0210	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.28964	-1.0027	10	0.46703	T	0.11	0.7395	7.3452	0.26660	0.4494:0.1087:0.4419:0.0	.	423	Q7Z2Z1	TICRR_HUMAN	H	423	ENSP00000268138:R423H	ENSP00000268138:R423H	R	+	2	0	C15orf42	87930034	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-0.060000	0.11712	-0.695000	0.05105	-0.150000	0.13652	CGC		0.542	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		3	105	0	0	0	1	0	3	105					A	90129030	G	A	90129030	3	1	112	1	0	0	0	0	1	0	0	0	1796	1087	38	1	1282	1	C15orf42	15	90129030	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	46312136	90129030	12402362	11	1995											
C17orf28	283987	broad.mit.edu	37	17	72951961	72951961	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr17:72951961G>C	ENST00000425042.2	-	13	1639	c.1562C>G	c.(1561-1563)tCt>tGt	p.S521C		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	521					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CTGGGCGGCAGAGAAGAGGAA	0.572																																						uc002jmj.4																			0				endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17						c.(1561-1563)tCt>tGt		Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.							148	135	139					17																	72951961		2203	4300	6503	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72951961G>C		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1562C>G	17.37:g.72951961G>C	ENSP00000413520:p.Ser521Cys		Somatic				C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Missense_Mutation_p.S320C	p.S521C	NM_030630	NP_085133	WXS	Illumina GAIIx	Phase_I	Q8IV36	CQ028_HUMAN			12	1711	-	all_lung(278;0.151)|Lung NSC(278;0.185)		521					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1562C>G	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297567	0.81025	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.1	5.1	0.69264	.	0.118146	0.64402	D	0.000015	D	0.84991	0.5595	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88203	0.2885	9	0.87932	D	0	-9.2117	18.4905	0.90844	0.0:0.0:1.0:0.0	.	521	Q8IV36	CQ028_HUMAN	C	293;521;293	.	ENSP00000317795:S293C	S	-	2	0	C17orf28	70463556	1.000000	0.71417	0.918000	0.36340	0.725000	0.41563	7.587000	0.82613	2.349000	0.79799	0.650000	0.86243	TCT		0.572	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		37	86	0	0	0	1	0	37	86					C	72951961	G	C	72951961	3	2	112	1	0	0	0	0	1	0	0	0	1853	942	33	4	832	4	C17orf28	17	72951961	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		72951961	8243249	12	1996											
UPF1	5976	broad.mit.edu	37	19	18960960	18960960	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr19:18960960G>A	ENST00000599848.1	+	4	747	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	UPF1_ENST00000262803.5_Missense_Mutation_p.V180I|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	180	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GGGGGAGACAGTCCTGGAGTG	0.562																																						uc002nkg.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(538-540)Gtc>Atc		Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.							105	100	101					19																	18960960		2203	4300	6503	SO:0001583	missense	5976				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding	g.chr19:18960960G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.538G>A	19.37:g.18960960G>A	ENSP00000470142:p.Val180Ile		Somatic				UPF1_uc002nkf.3_Missense_Mutation_p.V180I	p.V180I	NM_002911	NP_002902	WXS	Illumina GAIIx	Phase_I	Q92900	RENT1_HUMAN			3	813	+			180			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.538G>A		.	.	.	.	.	.	.	.	.	.	G	12.22	1.872541	0.33069	.	.	ENSG00000005007	ENST00000262803	D	0.89617	-2.54	4.45	3.37	0.38596	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	T	0.80874	0.4707	L	0.28649	0.875	0.58432	D	0.999997	B;B	0.12013	0.005;0.002	B;B	0.13407	0.009;0.005	T	0.71915	-0.4448	10	0.13853	T	0.58	-42.3634	12.7278	0.57180	0.0:0.0:0.8339:0.1661	.	180;180	Q92900;Q92900-2	RENT1_HUMAN;.	I	180	ENSP00000262803:V180I	ENSP00000262803:V180I	V	+	1	0	UPF1	18821960	1.000000	0.71417	0.068000	0.19968	0.993000	0.82548	9.429000	0.97481	0.932000	0.37266	0.591000	0.81541	GTC		0.562	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		3	126	0	0	0	1	0	3	126					A	18960960	G	A	18960960	3	1	112	1	0	0	0	0	1	0	0	0	17000	1029	36	2	552	2	UPF1	19	18960960	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		18960960	40168023	13	1997											
TGM6	343641	broad.mit.edu	37	20	2380227	2380227	+	Silent	SNP	A	A	T			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr20:2380227A>T	ENST00000202625.2	+	6	754	c.693A>T	c.(691-693)cgA>cgT	p.R231R	TGM6_ENST00000381423.1_Silent_p.R231R|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	231					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAACGACCGAGGTGTGGTGC	0.632																																						uc002wfy.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(691-693)cgA>cgT		Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	L-Glutamine(DB00130)						102	84	90					20																	2380227		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2380227A>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.693A>T	20.37:g.2380227A>T			Somatic				TGM6_uc010gal.1_Silent_p.R231R	p.R231R	NM_198994	NP_945345	WXS	Illumina GAIIx	Phase_I	O95932	TGM3L_HUMAN			5	754	+			231					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.693A>T	CCDS13025.1																																																																																				0.632	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		33	115	0	0	0	1	0	33	115					T	2380227	A	T	2380227	2	4	112	1	0	0	0	0	0	0	0	1	15831	291	11	5		5	TGM6	20	2380227	Silent	SNP	A	TCGA-DJ-A3US-01A-11D-A22D-08		2380227	60645293	14	1998											
KRTAP6-2	337967	broad.mit.edu	37	21	31971024	31971024	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr21:31971024C>G	ENST00000334897.3	-	1	195	c.170G>C	c.(169-171)gGc>gCc	p.G57A	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	57						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GTAGCCAGAGCCGCATCCATA	0.567																																						uc011adc.2																			0		p.G57S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(169-171)gGc>gCc		Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.							61	56	58					21																	31971024		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971024C>G	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"Keratin associated proteins"	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.170G>C	21.37:g.31971024C>G	ENSP00000334560:p.Gly57Ala		Somatic				KRTAP22-1_uc011add.2_5'Flank	p.G57A	NM_181604	NP_853635	WXS	Illumina GAIIx	Phase_I	Q3LI66	KRA62_HUMAN			0	170	-			57						Missense_Mutation	SNP	ENST00000334897.3	37	c.170G>C	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157424	0.09236	.	.	ENSG00000186930	ENST00000334897	T	0.20200	2.09	4.36	4.36	0.52297	.	0.242264	0.22073	U	0.065019	T	0.43277	0.1240	.	.	.	0.21184	N	0.999764	D	0.76494	0.999	D	0.91635	0.999	T	0.14559	-1.0468	9	0.87932	D	0	.	12.7069	0.57065	0.0:1.0:0.0:0.0	.	57	Q3LI66	KRA62_HUMAN	A	57	ENSP00000334560:G57A	ENSP00000334560:G57A	G	-	2	0	KRTAP6-2	30892895	0.051000	0.20477	0.450000	0.26969	0.079000	0.17450	0.948000	0.29096	2.716000	0.92895	0.650000	0.86243	GGC		0.567	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			16	43	0	0	0	1	0	16	43					G	31971024	C	G	31971024	3	3	112	1	0	0	0	0	1	0	0	0	8570	739	26	4	21	4	KRTAP6-2	21	31971024	Missense_Mutation	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		31971024	16158871	15	1999											
TOP3B	8940	broad.mit.edu	37	22	22318659	22318659	+	Silent	SNP	C	C	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr22:22318659C>A	ENST00000398793.2	-	10	1406	c.972G>T	c.(970-972)acG>acT	p.T324T	TOP3B_ENST00000413067.2_Silent_p.T53T|TOP3B_ENST00000357179.5_Silent_p.T324T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	324					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCCGCTCAGCCGTCTGCATGG	0.637																																						uc002zvs.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(970-972)acG>acT		Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.							141	108	119					22																	22318659		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22318659C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.972G>T	22.37:g.22318659C>A			Somatic				TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Silent_p.T324T|TOP3B_uc010gtl.3_Silent_p.T324T	p.T324T	NM_003935	NP_003926	WXS	Illumina GAIIx	Phase_I	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	9	1407	-	Colorectal(54;0.105)		324					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.972G>T	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	8.017	0.758885	0.15846	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39623	-0.9605	4	.	.	.	.	1.1052	0.01692	0.1919:0.2783:0.1729:0.3569	.	.	.	.	L	119	.	.	R	-	2	0	TOP3B	20648659	0.032000	0.19561	0.013000	0.15412	0.870000	0.49936	-0.904000	0.04080	-2.506000	0.00507	-1.069000	0.02264	CGG		0.637	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		3	110	0	0	0	1	0	3	110					A	22318659	C	A	22318659	2	1	112	1	0	0	0	0	0	0	0	1	16365	639	23	4		4	TOP3B	22	22318659	Silent	SNP	C	TCGA-DJ-A3US-01A-11D-A22D-08		22318659	28985907	16	2000											
PHEX	5251	broad.mit.edu	37	X	22108574	22108574	+	Missense_Mutation	SNP	G	G	A	rs376291775		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:22108574G>A	ENST00000379374.4	+	6	1256	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PHEX_ENST00000537599.1_Missense_Mutation_p.V231M|PHEX_ENST00000535894.1_Missense_Mutation_p.V134M	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	231					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTCCCTGGCCGTGAGGGAAGA	0.428													G|||	1	0.000264901	8e-04	0	3775	,	,		14999	0		0	False		,,,				2504	0					uc004dah.3																			0		p.A230A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(691-693)Gtg>Atg		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.		G	MET/VAL	1,3834		0,1,1631,571	136	101	113		691	5.8	1.0	X		113	0,6728		0,0,2428,1872	no	missense	PHEX	NM_000444.4	21	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	231/750	22108574	1,10562	2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22108574G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.691G>A	X.37:g.22108574G>A	ENSP00000368682:p.Val231Met		Somatic				PHEX_uc011mjr.2_Missense_Mutation_p.V231M|PHEX_uc011mjs.2_Missense_Mutation_p.V134M	p.V231M	NM_000444	NP_000435	WXS	Illumina GAIIx	Phase_I	P78562	PHEX_HUMAN			5	894	+			231					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.691G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803306	0.50315	2.61E-4	0.0	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.81908	-1.55;-1.55;-1.55	5.78	5.78	0.91487	Peptidase M13 (1);	0.108534	0.64402	D	0.000007	T	0.76485	0.3994	N	0.08118	0	0.80722	D	1	D;D	0.63046	0.989;0.992	B;P	0.52598	0.36;0.703	T	0.81455	-0.0925	10	0.87932	D	0	.	12.8891	0.58061	0.0:0.0:0.7223:0.2777	.	231;231	F5GXU4;P78562	.;PHEX_HUMAN	M	231;231;134	ENSP00000368682:V231M;ENSP00000440362:V231M;ENSP00000439418:V134M	ENSP00000368682:V231M	V	+	1	0	PHEX	22018495	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.089000	0.57685	2.429000	0.82318	0.513000	0.50165	GTG		0.428	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		3	107	0	0	0	1	0	3	107					A	22108574	G	A	22108574	3	1	112	1	0	0	0	0	1	0	0	0	11819	1145	40	1	713	1	PHEX	23	22108574	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08		22108574	133161986	17	2001											
MAGEA3	4102	broad.mit.edu	37	X	151935879	151935879	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:151935879G>T	ENST00000393902.3	-	3	855	c.288C>A	c.(286-288)agC>agA	p.S96R	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S96R			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	96										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGAAGGTGCTTGGCCCCT	0.577																																						uc004fgp.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(286-288)agC>agA		Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.							108	98	102					X																	151935879		2203	4290	6493	SO:0001583	missense	4102							g.chrX:151935879G>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.288C>A	X.37:g.151935879G>T	ENSP00000377480:p.Ser96Arg		Somatic				MAGEA3_uc022chl.1_Missense_Mutation_p.S96R	p.S96R	NM_005362	NP_005353	WXS	Illumina GAIIx	Phase_I	P43357	MAGA3_HUMAN			2	497	-	Acute lymphoblastic leukemia(192;6.56e-05)		96					Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.288C>A	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	3.601	-0.081475	0.07141	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.06371	3.31;3.31;3.31	0.743	-0.266	0.12942	Melanoma associated antigen, MAGE, N-terminal (1);	1.143810	0.06455	N	0.728450	T	0.08537	0.0212	M	0.63428	1.95	0.09310	N	1	B	0.14805	0.011	B	0.23716	0.048	T	0.43130	-0.9410	9	0.38643	T	0.18	.	.	.	.	.	96	P43357	MAGA3_HUMAN	R	96	ENSP00000359301:S96R;ENSP00000377480:S96R;ENSP00000392758:S96R	ENSP00000359301:S96R	S	-	3	2	MAGEA3	151686535	0.001000	0.12720	0.006000	0.13384	0.034000	0.12701	0.418000	0.21230	-0.176000	0.10707	0.358000	0.22013	AGC		0.577	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		5	148	0	0	0	1	0	5	148					T	151935879	G	T	151935879	3	4	112	1	0	0	0	0	1	0	0	0	9167	1310	46	4	660	4	MAGEA3	23	151935879	Missense_Mutation	SNP	G	TCGA-DJ-A3US-01A-11D-A22D-08	129827305	151935879	3334681	18	2002											
PLEKHM2	23207	broad.mit.edu	37	1	16057150	16057150	+	Missense_Mutation	SNP	C	C	G	rs370220957		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:16057150C>G	ENST00000375799.3	+	15	2559	c.2332C>G	c.(2332-2334)Ctg>Gtg	p.L778V	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.L758V|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	778	Interaction with sifA.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGAAGGCATGCTGCACTACAA	0.652																																						uc010obo.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2332-2334)Ctg>Gtg		Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.							57	64	62					1																	16057150		2108	4226	6334	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16057150C>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2332C>G	1.37:g.16057150C>G	ENSP00000364956:p.Leu778Val		Somatic					p.L778V	NM_015164	NP_055979	WXS	Illumina GAIIx	Phase_I	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	14	2559	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	778			Interaction with sifA.|PH.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2332C>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337621	0.81911	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	D;D	0.82255	-1.59;-1.59	5.31	4.39	0.52855	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	D	0.88858	0.6551	M	0.65498	2.005	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.89093	0.3484	10	0.87932	D	0	-12.7286	10.5067	0.44839	0.0:0.8501:0.0:0.1499	.	778	Q8IWE5	PKHM2_HUMAN	V	778;758	ENSP00000364956:L778V;ENSP00000364950:L758V	ENSP00000364950:L758V	L	+	1	2	PLEKHM2	15929737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	1.228000	0.43614	0.655000	0.94253	CTG		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		8	15	0	0	0	1	0	8	15					G	16057150	C	G	16057150	3	3	113	1	0	0	0	0	1	0	0	0	12081	796	28	4	2390	4	PLEKHM2	1	16057150	Missense_Mutation	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08		16057150	233193471	1	2003											
PLA2G5	5322	broad.mit.edu	37	1	20412680	20412681	+	Missense_Mutation	DNP	GG	GG	CT	rs387906796		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:20412680_20412681GG>CT	ENST00000375108.3	+	3	413_414	c.145_146GG>CT	c.(145-147)GGc>CTc	p.G49L	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	49			G -> S (in FRFB). {ECO:0000269|PubMed:22137173}.		arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.G49S(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGTTACTGCGGCTGGGGCGGC	0.554																																						uc001bcx.3																			1	Substitution - Missense(1)	p.G49S(1)	lung(1)	NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(238-240)ggc>CTc		Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.																																				SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412680_20412681GG>CT	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	Exception_encountered	1.37:g.20412680_20412681delinsCT	ENSP00000364249:p.Gly49Leu		Somatic				PLA2G5_uc001bcy.3_Missense_Mutation_p.G49L	p.G80L	NM_000929	NP_000920	WXS	Illumina GAIIx	Phase_I	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	7	1101_1102	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	49					Q8N435	Missense_Mutation	DNP	ENST00000375108.3	37	c.238_239GG>CT	CCDS202.1																																																																																				0.554	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		6	84	0	0	0	1	0	6	84					CT	20412681	GG	CT	20412680	3	2	113	1	0	0	0	0	1	0	0	0	12007	1116	39	4	151	4	PLA2G5	1	20412680	Missense_Mutation	DNP	GG	TCGA-DJ-A3UT-01A-11D-A22D-08	4355530	20412680	228837941	2	2004											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		96	133	0	0	0	1	0	96	133					C	115256529	T	C	115256529	3	2	113	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08	94843849	115256529	133994092	3	2005											
LASS2	29956	broad.mit.edu	37	1	150940318	150940318	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:150940318G>A	ENST00000271688.6	-	5	832	c.446C>T	c.(445-447)gCc>gTc	p.A149V	CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.A140V|CERS2_ENST00000368954.5_Missense_Mutation_p.A149V|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	149	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCCATGCCGGCAATGAAGGC	0.542																																						uc001evy.3																			0											c.(445-447)gCc>gTc		Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.							151	132	139					1																	150940318		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940318G>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"Homeoboxes / CERS class"	14076	protein-coding gene	gene with protein product		606920	"longevity assurance (LAG1, S. cerevisiae) homolog 2", "LAG1 longevity assurance homolog 2 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 2"	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.446C>T	1.37:g.150940318G>A	ENSP00000271688:p.Ala149Val		Somatic				CERS2_uc001evz.3_Missense_Mutation_p.A149V|CERS2_uc009wmh.3_5'UTR	p.A149V	NM_181746	NP_859530	WXS	Illumina GAIIx	Phase_I	Q96G23	CERS2_HUMAN			4	872	-			149			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.446C>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087830	0.55968	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;T	0.85773	-2.03;-2.03;-2.03;-2.03;2.31	4.89	4.89	0.63831	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.66378	2.025	0.80722	D	1	B	0.26635	0.155	B	0.29663	0.105	T	0.75786	-0.3195	10	0.20046	T	0.44	-12.1187	17.8497	0.88742	0.0:0.0:1.0:0.0	.	149	Q96G23	CERS2_HUMAN	V	149;149;169;149;149	ENSP00000357950:A149V;ENSP00000271688:A149V;ENSP00000357945:A169V;ENSP00000355020:A149V;ENSP00000393239:A149V	ENSP00000271688:A149V	A	-	2	0	CERS2	149206942	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.074000	0.64401	2.536000	0.85505	0.655000	0.94253	GCC		0.542	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		4	162	0	0	0	1	0	4	162					A	150940318	G	A	150940318	3	1	113	1	0	0	0	0	1	0	0	0	8639	1203	42	2	724	2	LASS2	1	150940318	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	35683789	150940318	98310303	4	2006											
HRNR	388697	broad.mit.edu	37	1	152190916	152190916	+	Nonsense_Mutation	SNP	G	G	T	rs141737935	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:152190916G>T	ENST00000368801.2	-	3	3264	c.3189C>A	c.(3187-3189)taC>taA	p.Y1063*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1063					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)			CATGTTGACCGTAGCCAGAGG	0.562																																						uc001ezt.1																			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.(3187-3189)taC>taA		Homo sapiens hornerin (HRNR), mRNA.							151	172	165					1																	152190916		2203	4297	6500	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190916G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3189C>A	1.37:g.152190916G>T	ENSP00000357791:p.Tyr1063*		Somatic					p.Y1063*	NM_001009931	NP_001009931	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3265	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1063					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.3189C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	g	36	5.733236	0.96856	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.96	-7.91	0.01165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5341	0.07788	0.2222:0.2249:0.4417:0.1111	.	.	.	.	X	1063	.	ENSP00000357791:Y1063X	Y	-	3	2	HRNR	150457540	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.026000	0.13599	-2.446000	0.00546	-1.206000	0.01644	TAC		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		16	403	0	0	0	1	0	16	403					T	152190916	G	T	152190916	4	4	113	1	0	0	0	0	0	1	0	0	7359	1140	40	4	5367	4	HRNR	1	152190916	Nonsense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	1250598	152190916	97059705	5	2007											
RAPH1	65059	broad.mit.edu	37	2	204322299	204322299	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr2:204322299T>C	ENST00000319170.5	-	8	1411	c.1112A>G	c.(1111-1113)aAa>aGa	p.K371R	RAPH1_ENST00000423104.1_Missense_Mutation_p.K398R|RAPH1_ENST00000374489.2_Missense_Mutation_p.K398R|RAPH1_ENST00000457812.1_Missense_Mutation_p.K371R|RAPH1_ENST00000308091.4_Missense_Mutation_p.K423R|RAPH1_ENST00000374488.2_Missense_Mutation_p.K396R|RAPH1_ENST00000374493.3_Missense_Mutation_p.K423R|RAPH1_ENST00000453034.1_Missense_Mutation_p.K423R|RAPH1_ENST00000439222.1_Missense_Mutation_p.K396R|RAPH1_ENST00000419464.1_Missense_Mutation_p.K371R|RAPH1_ENST00000418114.1_Missense_Mutation_p.K371R	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	371					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTGTTTCTTTTTTCCCCAA	0.373																																						uc002vad.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1111-1113)aAa>aGa		Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.							157	168	164					2																	204322299		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204322299T>C	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1112A>G	2.37:g.204322299T>C	ENSP00000316543:p.Lys371Arg		Somatic				RAPH1_uc002vae.3_Missense_Mutation_p.K423R|RAPH1_uc002vaf.3_Missense_Mutation_p.K423R	p.K371R	NM_213589	NP_998754	WXS	Illumina GAIIx	Phase_I	Q70E73	RAPH1_HUMAN			7	1337	-			371					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1112A>G	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543609	0.65198	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.81;0.72;0.71;0.8;0.79;0.79;0.79;0.81;0.8;0.78;0.8	5.27	5.27	0.74061	.	0.000000	0.47852	D	0.000206	T	0.58779	0.2146	L	0.45581	1.43	0.53005	D	0.999962	D;B;B	0.76494	0.999;0.001;0.071	D;B;B	0.71184	0.972;0.003;0.019	T	0.61618	-0.7026	10	0.72032	D	0.01	-17.4157	10.1509	0.42794	0.0:0.0791:0.0:0.9209	.	423;423;371	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	R	371;371;423;398;396;423;396;371;398;423;396;371;398	ENSP00000392854:K371R;ENSP00000316543:K371R;ENSP00000363617:K423R;ENSP00000363613:K398R;ENSP00000363612:K396R;ENSP00000311293:K423R;ENSP00000411138:K396R;ENSP00000390578:K371R;ENSP00000397751:K398R;ENSP00000406662:K423R;ENSP00000396711:K371R	ENSP00000311293:K423R	K	-	2	0	RAPH1	204030544	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.966000	0.63715	1.990000	0.58119	0.454000	0.30748	AAA		0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		3	132	0	0	0	1	0	3	132					C	204322299	T	C	204322299	3	2	113	1	0	0	0	0	1	0	0	0	13050	1841	64	3	2675	3	RAPH1	2	204322299	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		204322299	38877074	6	2008											
VGLL4	9686	broad.mit.edu	37	3	11684953	11684953	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr3:11684953A>C	ENST00000430365.2	-	1	445	c.40T>G	c.(40-42)Ttg>Gtg	p.L14V	VGLL4_ENST00000404339.1_Intron|VGLL4_ENST00000273038.3_Intron	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCTTGTCCAAGTACTGATAG	0.438																																						uc010hdx.1																			0		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(40-42)Ttg>Gtg		Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.							201	193	195					3																	11684953		1568	3582	5150	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11684953A>C	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"vestigial like 4 (Drosophila)"			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.40T>G	3.37:g.11684953A>C	ENSP00000404251:p.Leu14Val		Somatic				VGLL4_uc003bwf.2_Intron|VGLL4_uc003bwg.2_Intron	p.L14V	NM_001128219	NP_001121691	WXS	Illumina GAIIx	Phase_I	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	0	446	-			0					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000430365.2	37	c.40T>G	CCDS46754.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821875	0.71028	.	.	ENSG00000144560	ENST00000430365	T	0.58506	0.33	5.63	0.573	0.17363	.	.	.	.	.	T	0.70535	0.3235	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.67711	-0.5600	9	0.66056	D	0.02	-0.1671	8.311	0.32071	0.6837:0.0:0.3163:0.0	.	14	G5E9M7	.	V	14	ENSP00000404251:L14V	ENSP00000404251:L14V	L	-	1	2	VGLL4	11659953	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.280000	0.43443	-0.121000	0.11787	-0.290000	0.09829	TTG		0.438	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		35	199	0	0	0	1	0	35	199					C	11684953	A	C	11684953	3	2	113	1	0	0	0	0	1	0	0	0	17158	69	3	5	894	5	VGLL4	3	11684953	Missense_Mutation	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		11684953	186337477	7	2009											
GRIA2	2891	broad.mit.edu	37	4	158142928	158142928	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr4:158142928G>C	ENST00000264426.9	+	2	477	c.198G>C	c.(196-198)gaG>gaC	p.E66D	GRIA2_ENST00000507898.1_Missense_Mutation_p.E19D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E19D|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000393815.2_Missense_Mutation_p.E19D|GRIA2_ENST00000296526.7_Missense_Mutation_p.E66D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	66					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|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)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAATTTGGAGGTGGCAAACA	0.502																																						uc003ipm.4																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(196-198)gaG>gaC		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						111	109	110					4																	158142928		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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	g.chr4:158142928G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.198G>C	4.37:g.158142928G>C	ENSP00000264426:p.Glu66Asp		Somatic				GRIA2_uc011cit.2_Missense_Mutation_p.E19D|GRIA2_uc021xtr.1_Missense_Mutation_p.E66D|GRIA2_uc003ipl.4_Missense_Mutation_p.E66D|GRIA2_uc003ipk.4_Missense_Mutation_p.E19D|GRIA2_uc010iqh.1_Non-coding_Transcript	p.E66D	NM_001083619	NP_001077088	WXS	Illumina GAIIx	Phase_I	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	1	657	+	all_hematologic(180;0.24)	Renal(120;0.0458)	66					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.198G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791911	0.50102	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.35	5.35	0.76521	Extracellular ligand-binding receptor (1);	0.050340	0.85682	D	0.000000	T	0.72803	0.3506	N	0.11427	0.14	0.53688	D	0.999978	P;B;P	0.40197	0.706;0.0;0.706	B;B;B	0.42163	0.378;0.001;0.305	T	0.71695	-0.4515	10	0.19590	T	0.45	.	18.6636	0.91479	0.0:0.0:1.0:0.0	.	66;66;19	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	D	19;19;66;66;66;19;19;19	ENSP00000426845:E19D;ENSP00000377403:E19D;ENSP00000425217:E66D;ENSP00000296526:E66D;ENSP00000264426:E66D;ENSP00000426513:E19D;ENSP00000422038:E19D;ENSP00000389837:E19D	ENSP00000264426:E66D	E	+	3	2	GRIA2	158362378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.256000	0.51492	2.497000	0.84241	0.555000	0.69702	GAG		0.502	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			11	109	0	0	0	1	0	11	109					C	158142928	G	C	158142928	3	2	113	1	0	0	0	0	1	0	0	0	6768	991	35	4	204	4	GRIA2	4	158142928	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		158142928	33011348	8	2010											
ZNF608	57507	broad.mit.edu	37	5	123980144	123980144	+	Missense_Mutation	SNP	T	T	C	rs141350098	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:123980144T>C	ENST00000306315.5	-	5	4351	c.3916A>G	c.(3916-3918)Atg>Gtg	p.M1306V	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.M879V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1306							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTCTCCTCCATTGATTGAGAA	0.478																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3916-3918)Atg>Gtg		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.		T	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	268	260	263		3916	-6.0	0.0	5	dbSNP_134	263	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF608	NM_020747.2	21	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign	1306/1513	123980144	2,13004	2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123980144T>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3916A>G	5.37:g.123980144T>C	ENSP00000307746:p.Met1306Val		Somatic				ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Missense_Mutation_p.M1V	p.M1306V	NM_020747	NP_065798	WXS	Illumina GAIIx	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	4099	-		all_cancers(142;0.186)|Prostate(80;0.081)	1306					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3916A>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	5.688	0.311559	0.10789	2.27E-4	1.16E-4	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.40476	1.03;1.04	5.76	-5.98	0.02220	.	0.627824	0.17163	N	0.184585	T	0.07458	0.0188	N	0.00538	-1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37103	-0.9720	9	.	.	.	-2.636	2.2344	0.04004	0.3184:0.3574:0.2004:0.1239	.	1306	Q9ULD9	ZN608_HUMAN	V	879;1306	ENSP00000427657:M879V;ENSP00000307746:M1306V	.	M	-	1	0	ZNF608	124008043	0.000000	0.05858	0.020000	0.16555	0.993000	0.82548	-2.076000	0.01373	-0.509000	0.06532	0.523000	0.50628	ATG		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		6	317	0	0	0	1	0	6	317					C	123980144	T	C	123980144	3	2	113	1	0	0	0	0	1	0	0	0	18031	1493	52	3	642	3	ZNF608	5	123980144	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		123980144	56935116	9	2011											
GRIA1	2890	broad.mit.edu	37	5	153026644	153026644	+	Missense_Mutation	SNP	G	G	A	rs149549228		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:153026644G>A	ENST00000285900.5	+	3	720	c.377G>A	c.(376-378)cGc>cAc	p.R126H	GRIA1_ENST00000448073.4_Missense_Mutation_p.R136H|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.R126H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R57H|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Missense_Mutation_p.R136H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	126					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)	CTTCAGCTGCGCCCTGAACTG	0.507																																						uc011dcy.2																			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.(406-408)cGc>cAc		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	152	139	143		377,377	5.6	1.0	5	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/907,126/907	153026644	1,13005	2203	4300	6503	SO:0001583	missense	2890				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	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr5:153026644G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.377G>A	5.37:g.153026644G>A	ENSP00000285900:p.Arg126His		Somatic				GRIA1_uc003lva.4_Missense_Mutation_p.R126H|GRIA1_uc003luy.4_Missense_Mutation_p.R126H|GRIA1_uc003luz.4_Missense_Mutation_p.R31H|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.R57H|GRIA1_uc011dcz.2_Missense_Mutation_p.R136H|GRIA1_uc010jia.1_Missense_Mutation_p.R106H	p.R136H	NM_001114183	NP_001107655	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	434	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	126					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.407G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130291	0.94473	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;P	0.97110	1.0;1.0;1.0;0.999;0.856	D	0.93603	0.6932	10	0.46703	T	0.11	.	18.489	0.90839	0.0:0.0:1.0:0.0	.	136;136;136;126;126	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	126;126;80;126;57;57;136;136	ENSP00000285900:R126H;ENSP00000339343:R126H;ENSP00000427864:R57H;ENSP00000442108:R57H;ENSP00000428994:R136H;ENSP00000415569:R136H	ENSP00000285900:R126H	R	+	2	0	GRIA1	153006837	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.514000	0.98013	2.612000	0.88384	0.655000	0.94253	CGC		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			36	127	0	0	0	1	0	36	127					A	153026644	G	A	153026644	3	1	113	1	0	0	0	0	1	0	0	0	6767	1087	38	1	387	1	GRIA1	5	153026644	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08	29046500	153026644	27888616	10	2012											
ZNF346	23567	broad.mit.edu	37	5	176468158	176468158	+	Silent	SNP	C	C	T			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:176468158C>T	ENST00000358149.3	+	2	250	c.207C>T	c.(205-207)ctC>ctT	p.L69L	ZNF346_ENST00000503039.1_Silent_p.L94L|ZNF346_ENST00000261948.4_Silent_p.L94L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Silent_p.L69L|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000511834.1_Silent_p.L69L	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	69					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			ACCAATGTCTCTTCACCAACA	0.453																																						uc003mfk.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14						c.(280-282)ctC>ctT		Homo sapiens zinc finger protein 346 (ZNF346), mRNA.							296	265	275					5																	176468158		2203	4300	6503	SO:0001819	synonymous_variant	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176468158C>T	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.207C>T	5.37:g.176468158C>T			Somatic				ZNF346_uc003mfi.3_Silent_p.L69L|ZNF346_uc011dfr.2_Silent_p.L69L|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	p.L94L	NM_012279	NP_036411	WXS	Illumina GAIIx	Phase_I	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	325	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	69					B7Z367|Q68CV9|Q6ZMW1	Silent	SNP	ENST00000358149.3	37	c.282C>T	CCDS4409.1																																																																																				0.453	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		34	221	0	0	0	1	0	34	221					T	176468158	C	T	176468158	2	4	113	1	0	0	0	0	0	0	0	1	17857	900	32	2		2	ZNF346	5	176468158	Silent	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08	23441514	176468158	4447102	11	2013											
THEMIS	387357	broad.mit.edu	37	6	128150695	128150695	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr6:128150695G>A	ENST00000368248.2	-	3	783	c.635C>T	c.(634-636)aCg>aTg	p.T212M	THEMIS_ENST00000543064.1_Missense_Mutation_p.T212M|THEMIS_ENST00000368250.1_Missense_Mutation_p.T133M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T177M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	212	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAATGGATTCGTTGAGTCCCA	0.358																																						uc011ebt.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(634-636)aCg>aTg		Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.							123	119	121					6																	128150695		2203	4300	6503	SO:0001583	missense	387357				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		g.chr6:128150695G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.635C>T	6.37:g.128150695G>A	ENSP00000357231:p.Thr212Met		Somatic				THEMIS_uc010kfa.3_Missense_Mutation_p.T115M|THEMIS_uc021zfa.1_Missense_Mutation_p.T212M|THEMIS_uc010kfb.3_Missense_Mutation_p.T177M	p.T212M	NM_001164685	NP_001158157	WXS	Illumina GAIIx	Phase_I	Q8N1K5	THMS1_HUMAN			2	784	-			212			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.635C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038361	0.35989	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	6.14	-0.387	0.12463	.	0.652034	0.16370	N	0.217350	T	0.03434	0.0099	L	0.47716	1.5	0.09310	N	1	B;B	0.18610	0.029;0.023	B;B	0.15484	0.005;0.013	T	0.42258	-0.9462	10	0.27785	T	0.31	-0.7853	7.935	0.29925	0.3086:0.0:0.5905:0.101	.	212;212	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	133;212;212;177	ENSP00000357233:T133M;ENSP00000439594:T212M;ENSP00000357231:T212M;ENSP00000439863:T177M	ENSP00000357231:T212M	T	-	2	0	THEMIS	128192388	0.005000	0.15991	0.170000	0.22879	0.807000	0.45602	0.243000	0.18106	-0.022000	0.13986	-0.827000	0.03088	ACG		0.358	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		5	92	0	0	0	1	0	5	92					A	128150695	G	A	128150695	3	1	113	1	0	0	0	0	1	0	0	0	15857	1145	40	1	1427	1	THEMIS	6	128150695	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		128150695	42964372	12	2014											
AMBRA1	55626	broad.mit.edu	37	11	46455150	46455150	+	Silent	SNP	G	G	A	rs532882457		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr11:46455150G>A	ENST00000458649.2	-	14	3268	c.2850C>T	c.(2848-2850)tcC>tcT	p.S950S	AMBRA1_ENST00000528950.1_Silent_p.S921S|AMBRA1_ENST00000298834.3_Silent_p.S890S|AMBRA1_ENST00000314845.3_Silent_p.S860S|AMBRA1_ENST00000534300.1_Silent_p.S890S|AMBRA1_ENST00000426438.1_Silent_p.S921S|AMBRA1_ENST00000533727.1_Silent_p.S831S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	950					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGCCCATTGGGGACAGGCTCA	0.532																																						uc001ncv.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(2857-2859)tcC>tcT		Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.							75	61	66					11																	46455150		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46455150G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2850C>T	11.37:g.46455150G>A			Somatic				AMBRA1_uc010rgt.1_Silent_p.S516S|AMBRA1_uc009ylc.1_Silent_p.S921S|AMBRA1_uc001ncu.1_Silent_p.S860S|AMBRA1_uc010rgu.1_Silent_p.S950S|AMBRA1_uc001ncw.2_Silent_p.S831S|AMBRA1_uc001ncx.2_Silent_p.S890S	p.S953S	NM_017749	NP_060219	WXS	Illumina GAIIx	Phase_I	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	15	3173	-			950					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.2859C>T																																																																																					0.532	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		3	60	0	0	0	1	0	3	60					A	46455150	G	A	46455150	2	1	113	1	0	0	0	0	0	0	0	1	565	1219	43	2		2	AMBRA1	11	46455150	Silent	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		46455150	88551366	13	2015											
KCNA5	3741	broad.mit.edu	37	12	5154190	5154190	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr12:5154190G>A	ENST00000252321.3	+	1	1106	c.877G>A	c.(877-879)Gcg>Acg	p.A293T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	293					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)			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)	CCAGCCTCCCGCGCCCGCCCC	0.687																																						uc001qni.3																			0				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.(877-879)Gcg>Acg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.							29	36	34					12																	5154190		2199	4290	6489	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154190G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.877G>A	12.37:g.5154190G>A	ENSP00000252321:p.Ala293Thr		Somatic					p.A293T	NM_002234	NP_002225	WXS	Illumina GAIIx	Phase_I	P22460	KCNA5_HUMAN			0	1106	+			293					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.877G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	0.773	-0.764988	0.02996	.	.	ENSG00000130037	ENST00000252321	D	0.97404	-4.37	4.77	3.85	0.44370	.	1154.810000	0.00166	N	0.000004	D	0.90089	0.6904	N	0.01789	-0.72	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.82190	-0.0580	10	0.11794	T	0.64	.	9.0255	0.36227	0.1676:0.0:0.8324:0.0	.	293	P22460	KCNA5_HUMAN	T	293	ENSP00000252321:A293T	ENSP00000252321:A293T	A	+	1	0	KCNA5	5024451	.	.	0.021000	0.16686	0.249000	0.25844	.	.	2.478000	0.83669	0.561000	0.74099	GCG		0.687	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		4	83	0	0	0	1	0	4	83					A	5154190	G	A	5154190	3	1	113	1	0	0	0	0	1	0	0	0	8006	1087	38	1	879	1	KCNA5	12	5154190	Missense_Mutation	SNP	G	TCGA-DJ-A3UT-01A-11D-A22D-08		5154190	128697705	14	2016											
TSHR	7253	broad.mit.edu	37	14	81610320	81610320	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr14:81610320A>G	ENST00000541158.2	+	11	2240	c.1918A>G	c.(1918-1920)Atc>Gtc	p.I640V	TSHR_ENST00000298171.2_Missense_Mutation_p.I640V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	640					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGGCCCCAATCTCATTCTA	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0		p.P639S(2)|p.P639Q(1)|p.P639A(1)|p.I640K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1918-1920)Atc>Gtc		Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	Thyrotropin Alfa(DB00024)						186	170	176					14																	81610320		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610320A>G	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1918A>G	14.37:g.81610320A>G	ENSP00000441235:p.Ile640Val		Somatic					p.I640V	NM_000369	NP_000360	WXS	Illumina GAIIx	Phase_I	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	9	2074	+			640					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1918A>G	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496605	0.64186	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.71934	-0.61;-0.61	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85137	0.5628	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.87908	0.2695	10	0.87932	D	0	.	14.8175	0.70045	1.0:0.0:0.0:0.0	.	640	F5GYU5	.	V	640;287;640	ENSP00000441235:I640V;ENSP00000298171:I640V	ENSP00000298171:I640V	I	+	1	0	TSHR	80680073	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	9.339000	0.96797	1.906000	0.55180	0.459000	0.35465	ATC		0.463	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		5	191	0	0	0	1	0	5	191					G	81610320	A	G	81610320	3	3	113	1	0	0	0	0	1	0	0	0	16619	101	4	3	2093	3	TSHR	14	81610320	Missense_Mutation	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		81610320	25739220	15	2017											
C16orf62	57020	broad.mit.edu	37	16	19580877	19580877	+	Silent	SNP	A	A	C	rs369135032		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr16:19580877A>C	ENST00000251143.5	+	3	261	c.249A>C	c.(247-249)gcA>gcC	p.A83A	C16orf62_ENST00000417362.2_Silent_p.A83A|C16orf62_ENST00000542263.1_Silent_p.A172A|C16orf62_ENST00000538853.1_Silent_p.A172A|C16orf62_ENST00000438132.3_Silent_p.A172A			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	83						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						CCATGTTTGCAGCCACTGCTG	0.617																																						uc002dgn.2																			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.(247-249)gcA>gcC		Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.							38	40	39					16																	19580877		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19580877A>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.249A>C	16.37:g.19580877A>C			Somatic				C16orf62_uc002dgo.2_Silent_p.A172A|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Silent_p.A172A	p.A83A	NM_020314	NP_064710	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			2	564	+			83					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.249A>C																																																																																					0.617	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		3	97	0	0	0	1	0	3	97					C	19580877	A	C	19580877	2	2	113	1	0	0	0	0	0	0	0	1	1825	175	7	5		5	C16orf62	16	19580877	Silent	SNP	A	TCGA-DJ-A3UT-01A-11D-A22D-08		19580877	70773876	16	2018											
EZH1	2145	broad.mit.edu	37	17	40865386	40865386	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr17:40865386T>A	ENST00000428826.2	-	11	1166	c.1045A>T	c.(1045-1047)Atg>Ttg	p.M349L	EZH1_ENST00000435174.1_Missense_Mutation_p.M210L|EZH1_ENST00000585893.1_Missense_Mutation_p.M309L|EZH1_ENST00000590078.1_Missense_Mutation_p.M279L|EZH1_ENST00000415827.2_Missense_Mutation_p.M340L|EZH1_ENST00000592743.1_Missense_Mutation_p.M349L			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	349					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGTGGAGCATGGCATACTCC	0.522																																						uc010wgu.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1063-1065)Atg>Ttg		Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.							95	84	88					17																	40865386		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	g.chr17:40865386T>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1045A>T	17.37:g.40865386T>A	ENSP00000404658:p.Met349Leu		Somatic				EZH1_uc002iaz.3_Missense_Mutation_p.M349L|EZH1_uc002iba.3_Missense_Mutation_p.M340L|EZH1_uc010wgt.2_Missense_Mutation_p.M279L|EZH1_uc010wgv.2_Missense_Mutation_p.M309L|EZH1_uc010wgw.2_Missense_Mutation_p.M210L|EZH1_uc010cyp.2_Missense_Mutation_p.M250L|EZH1_uc010cyq.2_Missense_Mutation_p.M266L|EZH1_uc010cys.2_Missense_Mutation_p.M300L|EZH1_uc010cyo.1_Missense_Mutation_p.M12L|EZH1_uc010cyr.1_Missense_Mutation_p.M1L	p.M355L	NM_001991	NP_001982	WXS	Illumina GAIIx	Phase_I	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	9	1099	-		Breast(137;0.00104)	349					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1063A>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983366	0.35036	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.78246	-1.16;-1.16	5.26	4.19	0.49359	.	0.243530	0.51477	D	0.000095	T	0.59183	0.2175	N	0.14661	0.345	0.31423	N	0.674086	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.001	T	0.57075	-0.7873	10	0.31617	T	0.26	.	8.6508	0.34033	0.0:0.1662:0.0:0.8338	.	210;309;355;279;349	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	L	352;349;309;210	ENSP00000404658:M349L;ENSP00000404071:M210L	ENSP00000264646:M352L	M	-	1	0	EZH1	38118912	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.908000	0.39907	1.030000	0.39839	0.454000	0.30748	ATG		0.522	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		6	136	0	0	0	1	0	6	136					A	40865386	T	A	40865386	3	1	113	1	0	0	0	0	1	0	0	0	5333	1464	51	5	1242	5	EZH1	17	40865386	Missense_Mutation	SNP	T	TCGA-DJ-A3UT-01A-11D-A22D-08		40865386	40329824	17	2019											
RBMX2	51634	broad.mit.edu	37	X	129546577	129546577	+	Silent	SNP	C	C	T			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chrX:129546577C>T	ENST00000305536.6	+	6	788	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	242	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGAGGGAGCTGAAGAAGGA	0.572																																						uc004evt.3																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(724-726)Ctg>Ttg		Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.							52	51	51					X																	129546577		1927	4130	6057	SO:0001819	synonymous_variant	51634						RNA binding|nucleotide binding	g.chrX:129546577C>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.724C>T	X.37:g.129546577C>T			Somatic					p.L242L	NM_016024	NP_057108	WXS	Illumina GAIIx	Phase_I	Q9Y388	RBMX2_HUMAN			5	788	+			242			Lys-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	ENST00000305536.6	37	c.724C>T	CCDS43993.1																																																																																				0.572	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		3	41	0	0	0	1	0	3	41					T	129546577	C	T	129546577	2	4	113	1	0	0	0	0	0	0	0	1	13152	796	28	2		2	RBMX2	23	129546577	Silent	SNP	C	TCGA-DJ-A3UT-01A-11D-A22D-08		129546577	25723983	18	2020											
GPR39	2863	broad.mit.edu	37	2	133402697	133402697	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr2:133402697G>A	ENST00000329321.3	+	2	1349	c.880G>A	c.(880-882)Gta>Ata	p.V294I	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	294					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)|metal ion binding (GO:0046872)	p.V294I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACATTGGCCGTATGCTGGAT	0.527																																						uc002ttl.3																			1	Substitution - Missense(1)	p.V294I(2)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(880-882)Gta>Ata		Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.							83	73	76					2																	133402697		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402697G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.880G>A	2.37:g.133402697G>A	ENSP00000327417:p.Val294Ile		Somatic				LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	p.V294I	NM_001508	NP_001499	WXS	Illumina GAIIx	Phase_I	O43194	GPR39_HUMAN			1	1349	+			294					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.880G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580535	0.13686	.	.	ENSG00000183840	ENST00000329321	T	0.36699	1.24	5.3	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.295611	0.31660	N	0.007262	T	0.16214	0.0390	N	0.16602	0.42	0.51012	D	0.999906	B	0.14805	0.011	B	0.11329	0.006	T	0.12268	-1.0554	10	0.06365	T	0.9	.	5.7302	0.18036	0.2596:0.2498:0.4906:0.0	.	294	O43194	GPR39_HUMAN	I	294	ENSP00000327417:V294I	ENSP00000327417:V294I	V	+	1	0	GPR39	133119167	0.163000	0.22920	0.486000	0.27416	0.888000	0.51559	0.528000	0.23002	0.389000	0.25086	-0.143000	0.13931	GTA		0.527	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			3	89	0	0	0	1	0	3	89					A	133402697	G	A	133402697	3	1	114	1	0	0	0	0	1	0	0	0	6693	1145	40	1	886	1	GPR39	2	133402697	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		133402697	109796676	1	2021											
COL25A1	84570	broad.mit.edu	37	4	109745340	109745340	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr4:109745340T>C	ENST00000399132.1	-	35	2365	c.1835A>G	c.(1834-1836)aAg>aGg	p.K612R	COL25A1_ENST00000399127.1_Missense_Mutation_p.K615R|COL25A1_ENST00000399126.1_Missense_Mutation_p.K612R	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)		CTTTTCTCCCTTTTCTCCTAG	0.438																																						uc021xqo.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.(1834-1836)aAg>aGg		Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.							171	178	176					4																	109745340		1965	4159	6124	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109745340T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1835A>G	4.37:g.109745340T>C	ENSP00000382083:p.Lys612Arg		Somatic				COL25A1_uc003hze.1_Missense_Mutation_p.K612R|COL25A1_uc021xqp.1_Missense_Mutation_p.K612R|COL25A1_uc003hzg.3_Missense_Mutation_p.K612R|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.K400R	p.K612R	NM_198721	NP_942014	WXS	Illumina GAIIx	Phase_I	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	33	1891	-		Hepatocellular(203;0.217)	612			Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1835A>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479246	0.44044	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000399127;ENST00000399126	D;D;D	0.96200	-3.2;-3.36;-3.94	5.9	5.9	0.94986	.	0.093336	0.64402	D	0.000001	D	0.88883	0.6558	N	0.17564	0.495	0.33236	D	0.556625	B;B	0.24186	0.099;0.071	B;B	0.22753	0.041;0.038	D	0.86776	0.1976	9	.	.	.	-7.4013	8.6295	0.33911	0.0:0.1422:0.0:0.8578	.	612;612	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	612;614;615;612	ENSP00000382083:K612R;ENSP00000382078:K615R;ENSP00000382077:K612R	.	K	-	2	0	COL25A1	109964789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.516000	0.45520	2.250000	0.74265	0.533000	0.62120	AAG		0.438	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	108	0	0	0	1	0	3	108					C	109745340	T	C	109745340	3	2	114	1	0	0	0	0	1	0	0	0	3684	1609	56	3	229	3	COL25A1	4	109745340	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		109745340	81408936	2	2022											
BRIX1	55299	broad.mit.edu	37	5	34915926	34915926	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr5:34915926C>A	ENST00000336767.5	+	1	446	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	BRIX1_ENST00000506023.1_3'UTR|RAD1_ENST00000341754.4_Intron|RAD1_ENST00000382038.2_5'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	28					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATGCGGAGCCGCCAGCTAAG	0.617																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(82-84)cCg>cAg		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							43	45	44					5																	34915926		2186	4285	6471	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding	g.chr5:34915926C>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.83C>A	5.37:g.34915926C>A	ENSP00000338862:p.Pro28Gln		Somatic				RAD1_uc003jiw.3_5'Flank|RAD1_uc003jix.3_5'Flank|RAD1_uc003jiy.3_Intron|BRIX1_uc003jiz.3_Missense_Mutation_p.P28Q|BRIX1_uc011col.1_Missense_Mutation_p.P28Q	p.P28Q	NM_018321	NP_060791	WXS	Illumina GAIIx	Phase_I	Q8TDN6	BRX1_HUMAN			0	107	+			28					A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.83C>A	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	c	9.217	1.032429	0.19590	.	.	ENSG00000113460	ENST00000336767	T	0.41065	1.01	4.91	0.542	0.17174	.	1.384590	0.04212	N	0.331986	T	0.22244	0.0536	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13150	-1.0520	10	0.13853	T	0.58	8.5073	3.7015	0.08384	0.3708:0.4135:0.1351:0.0807	.	28;28	B4E0B8;Q8TDN6	.;BRX1_HUMAN	Q	28	ENSP00000338862:P28Q	ENSP00000338862:P28Q	P	+	2	0	BRIX1	34951683	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	-0.122000	0.11766	0.651000	0.88453	CCG		0.617	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		2	5	0	0	0	1	0	2	5					A	34915926	C	A	34915926	3	1	114	1	0	0	0	0	1	0	0	0	1515	652	23	4	85	4	BRIX1	5	34915926	Missense_Mutation	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		34915926	145999334	3	2023											
ESR1	2099	broad.mit.edu	37	6	152332842	152332842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr6:152332842G>A	ENST00000206249.3	+	5	1510	c.1148G>A	c.(1147-1149)tGg>tAg	p.W383*	ESR1_ENST00000427531.2_Nonsense_Mutation_p.W210*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.W383*|ESR1_ENST00000456483.2_Nonsense_Mutation_p.W271*|ESR1_ENST00000443427.1_Nonsense_Mutation_p.W383*|ESR1_ENST00000440973.1_Nonsense_Mutation_p.W383*|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	383	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)	GAATGTGCCTGGCTAGAGATC	0.488																																						uc010kio.3																			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.(1153-1155)tGg>tAg		Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						146	131	136					6																	152332842		2203	4300	6503	SO:0001587	stop_gained	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.chr6:152332842G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1148G>A	6.37:g.152332842G>A	ENSP00000206249:p.Trp383*		Somatic				ESR1_uc003qom.4_Nonsense_Mutation_p.W383*|ESR1_uc010kin.3_Nonsense_Mutation_p.W383*|ESR1_uc010kip.3_Nonsense_Mutation_p.W382*|ESR1_uc003qon.4_Nonsense_Mutation_p.W383*|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Nonsense_Mutation_p.W383*|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Nonsense_Mutation_p.W98*|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Nonsense_Mutation_p.W164*|ESR1_uc010kit.1_Intron|ESR1_uc011eey.2_Nonsense_Mutation_p.W120*	p.W385*	NM_001122742	NP_001116214	WXS	Illumina GAIIx	Phase_I	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	5	1372	+		Ovarian(120;0.0448)	383			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Nonsense_Mutation	SNP	ENST00000206249.3	37	c.1154G>A	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.246367|9.246367	0.99113|0.99113	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.30978|.	0.0782|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32134|.	-0.9918|.	3|.	.|0.02654	.|T	.|1	.|.	19.21|19.21	0.93749|0.93749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	288|383;383;271;164;383;383;311;210;56	.|.	.|ENSP00000206249:W383X	G|W	+|+	1|2	0|0	ESR1|ESR1	152374535|152374535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.541000|2.541000	0.85698|0.85698	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.488	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			3	133	0	0	0	1	0	3	133					A	152332842	G	A	152332842	4	1	114	1	0	0	0	0	0	1	0	0	5256	1357	47	2	1166	2	ESR1	6	152332842	Nonsense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		152332842	18782225	4	2024											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	70	0	0	0	1	0	30	70					T	140453136	A	T	140453136	3	4	114	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UU-01A-11D-A22D-08		140453136	18685527	5	2025											
RNF170	81790	broad.mit.edu	37	8	42716925	42716925	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr8:42716925T>G	ENST00000534961.1	-	6	946	c.470A>C	c.(469-471)aAt>aCt	p.N157T	RNF170_ENST00000319104.3_Intron|RNF170_ENST00000526349.1_Missense_Mutation_p.N73T|RNF170_ENST00000319073.4_Missense_Mutation_p.N61T|RNF170_ENST00000527424.1_Missense_Mutation_p.N157T	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	157					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTTATAATCATTAATATCCTG	0.348																																						uc003xpo.3																			0				lung(3)	3						c.(469-471)aAt>aCt		Homo sapiens ring finger protein 170 (RNF170), transcript variant 1, mRNA.							91	83	85					8																	42716925		2203	4300	6503	SO:0001583	missense	81790					integral to membrane	zinc ion binding	g.chr8:42716925T>G	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"RING-type (C3HC4) zinc fingers"	25358	protein-coding gene	gene with protein product		614649	"sensory ataxia 1 (autosomal dominant)"	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.470A>C	8.37:g.42716925T>G	ENSP00000445725:p.Asn157Thr		Somatic				RNF170_uc011lcx.2_Intron|RNF170_uc003xpp.3_Missense_Mutation_p.N61T|RNF170_uc003xpn.3_Missense_Mutation_p.N61T|RNF170_uc010lxp.3_Missense_Mutation_p.N73T|RNF170_uc003xpm.3_Missense_Mutation_p.N157T|RNF170_uc003xpq.4_Missense_Mutation_p.N157T	p.N157T	NM_001160223	NP_001153697	WXS	Illumina GAIIx	Phase_I	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		5	947	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	157					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP	ENST00000534961.1	37	c.470A>C	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610534	0.28712	.	.	ENSG00000120925	ENST00000534961;ENST00000319073;ENST00000527424;ENST00000526349	D;T;D;D	0.86627	-1.63;-1.02;-1.63;-2.15	5.86	3.49	0.39957	.	0.172112	0.64402	D	0.000007	T	0.80193	0.4578	L	0.53729	1.69	0.46396	D	0.999024	B;B;B	0.25772	0.134;0.041;0.065	B;B;B	0.26202	0.067;0.019;0.017	T	0.66933	-0.5798	10	0.14252	T	0.57	-6.4509	5.445	0.16529	0.1281:0.1373:0.0:0.7346	.	157;61;157	Q96K19-2;Q96K19-4;Q96K19	.;.;RN170_HUMAN	T	157;61;157;73	ENSP00000445725:N157T;ENSP00000325969:N61T;ENSP00000434797:N157T;ENSP00000435782:N73T	ENSP00000325969:N61T	N	-	2	0	RNF170	42836082	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.387000	0.44389	0.483000	0.27608	0.533000	0.62120	AAT		0.348	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		16	64	0	0	0	1	0	16	64					G	42716925	T	G	42716925	3	3	114	1	0	0	0	0	1	0	0	0	13462	1493	52	5	525	5	RNF170	8	42716925	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		42716925	103647097	6	2026											
GOLGA2	2801	broad.mit.edu	37	9	131019439	131019439	+	Silent	SNP	G	G	A	rs150141269	byFrequency	TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr9:131019439G>A	ENST00000421699.2	-	26	2928	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	GOLGA2_ENST00000609374.1_Silent_p.N960N|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	972					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTCCCGGGGGTTCTGCATCT	0.592													G|||	2	0.000399361	0	0	5008	,	,		17517	0		0.001	False		,,,				2504	0.001					uc011maw.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2914-2916)aaC>aaT		Homo sapiens golgin A2 (GOLGA2), mRNA.		G		0,4406		0,0,2203	62	69	66		2916	-0.2	0.2	9	dbSNP_134	66	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GOLGA2	NM_004486.4		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		972/1003	131019439	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019439G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2916C>T	9.37:g.131019439G>A			Somatic				GOLGA2_uc010mxw.3_Silent_p.N295N|GOLGA2_uc004buh.3_Silent_p.N322N|DQ583972_uc022boe.1_5'Flank	p.N972N	NM_004486	NP_004477	WXS	Illumina GAIIx	Phase_I	Q08379	GOGA2_HUMAN			25	2929	-			972					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2916C>T	CCDS6896.2																																																																																				0.592	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		3	97	0	0	0	1	0	3	97					A	131019439	G	A	131019439	2	1	114	1	0	0	0	0	0	0	0	1	6552	1252	44	2		2	GOLGA2	9	131019439	Silent	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		131019439	10193992	7	2027											
ATG2A	23130	broad.mit.edu	37	11	64677164	64677164	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr11:64677164G>A	ENST00000377264.3	-	14	2208	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F	ATG2A_ENST00000421419.2_Missense_Mutation_p.S699F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	699					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.S699F(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						ATGTAGGTCGGAGCAGGTGAG	0.632																																						uc001obx.3																			1	Substitution - Missense(1)	p.S699F(2)	endometrium(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.(2095-2097)tCc>tTc		Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.							53	62	59					11																	64677164		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64677164G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2096C>T	11.37:g.64677164G>A	ENSP00000366475:p.Ser699Phe		Somatic					p.S699F	NM_015104	NP_055919	WXS	Illumina GAIIx	Phase_I	Q2TAZ0	ATG2A_HUMAN			13	2211	-			699					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2096C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017831	0.35606	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07567	3.18;3.18	4.28	2.21	0.28008	.	0.432715	0.22203	N	0.063204	T	0.08758	0.0217	L	0.50333	1.59	0.22446	N	0.999097	B	0.30406	0.278	B	0.34385	0.181	T	0.20075	-1.0286	10	0.72032	D	0.01	.	5.6929	0.17839	0.1089:0.1982:0.6929:0.0	.	699	Q2TAZ0	ATG2A_HUMAN	F	699	ENSP00000410522:S699F;ENSP00000366475:S699F	ENSP00000366475:S699F	S	-	2	0	ATG2A	64433740	0.857000	0.29778	0.843000	0.33291	0.509000	0.34042	1.282000	0.33226	1.129000	0.42072	0.561000	0.74099	TCC		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	115	0	0	0	1	0	5	115					A	64677164	G	A	64677164	3	1	114	1	0	0	0	0	1	0	0	0	1093	1174	41	2	3832	2	ATG2A	11	64677164	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08		64677164	70329352	8	2028											
UTP14C	9724	broad.mit.edu	37	13	52602984	52602985	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:52602984_52602985delAG	ENST00000521776.2	+	2	777_778	c.44_45delAG	c.(43-45)cagfs	p.Q15fs	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	15					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)		TTGAGCCACCAGGAAGAACTAG	0.47																																						uc001vgb.3																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(43-45)cagfs		Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.																																				SO:0001589	frameshift_variant	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52602984_52602985delAG	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.44_45delAG	13.37:g.52602984_52602985delAG	ENSP00000428619:p.Gln15fs		Somatic				UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q15fs	p.Q15fs	NM_021645	NP_067677	WXS	Illumina GAIIx	Phase_I	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	1	606_607	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	15					Q5FWG3|Q92555	Frame_Shift_Del	DEL	ENST00000521776.2	37	c.44_45delAG	CCDS31978.1																																																																																				0.47	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		25	46						25	46	---	---	---	---	-	52602985	AG	-	52602984	7	5	114	1	0	1	0	1	0	0	0	0	17093	188	7	0	46	0	UTP14C	13	52602984	Frame_Shift_Del	DEL	AG	TCGA-DJ-A3UU-01A-11D-A22D-08		52602984	62566894	9	2029											
GPC6	10082	broad.mit.edu	37	13	95055374	95055374	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:95055374G>A	ENST00000377047.4	+	9	2186	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	524					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATCCCGACCGGAGAGAGGTG	0.597																																						uc001vlt.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1570-1572)cGg>cAg		Homo sapiens glypican 6 (GPC6), mRNA.							88	89	89					13																	95055374		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95055374G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1571G>A	13.37:g.95055374G>A	ENSP00000366246:p.Arg524Gln		Somatic					p.R524Q	NM_005708	NP_005699	WXS	Illumina GAIIx	Phase_I	Q9Y625	GPC6_HUMAN			8	2203	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	524					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1571G>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753929	0.49362	.	.	ENSG00000183098	ENST00000377047	T	0.49432	0.78	5.84	5.0	0.66597	.	0.051820	0.64402	D	0.000001	T	0.39226	0.1070	L	0.34521	1.04	0.26904	N	0.967041	P	0.50443	0.935	B	0.44085	0.44	T	0.24905	-1.0147	10	0.15066	T	0.55	.	15.2279	0.73364	0.0676:0.0:0.9324:0.0	.	524	Q9Y625	GPC6_HUMAN	Q	524	ENSP00000366246:R524Q	ENSP00000366246:R524Q	R	+	2	0	GPC6	93853375	1.000000	0.71417	0.856000	0.33681	0.605000	0.37080	5.306000	0.65756	1.483000	0.48342	0.561000	0.74099	CGG		0.597	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		3	122	0	0	0	1	0	3	122					A	95055374	G	A	95055374	3	1	114	1	0	0	0	0	1	0	0	0	6602	1116	39	1	1605	1	GPC6	13	95055374	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	42452390	95055374	20114504	10	2030											
ADCY9	115	broad.mit.edu	37	16	4164430	4164430	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:4164430C>A	ENST00000294016.3	-	2	1552	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	338					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						TGATTCTTGGCATCACGGAAT	0.502																																						uc002cvx.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.(1012-1014)atG>atT		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							165	155	158					16																	4164430		2197	4300	6497	SO:0001583	missense	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	ATP binding|adenylate cyclase activity|metal ion binding	g.chr16:4164430C>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1014G>T	16.37:g.4164430C>A	ENSP00000294016:p.Met338Ile		Somatic					p.M338I	NM_001116	NP_001107	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			1	1553	-			338					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1014G>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127475	0.77549	.	.	ENSG00000162104	ENST00000294016	D	0.84298	-1.83	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.91083	0.4901	10	0.40728	T	0.16	.	19.2808	0.94052	0.0:1.0:0.0:0.0	.	338	O60503	ADCY9_HUMAN	I	338	ENSP00000294016:M338I	ENSP00000294016:M338I	M	-	3	0	ADCY9	4104431	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.574000	0.86865	0.555000	0.69702	ATG		0.502	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	169	0	0	0	1	0	4	169					A	4164430	C	A	4164430	3	1	114	1	0	0	0	0	1	0	0	0	301	710	25	4	3087	4	ADCY9	16	4164430	Missense_Mutation	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		4164430	86190323	11	2031											
TAT	6898	broad.mit.edu	37	16	71607459	71607459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:71607459delC	ENST00000355962.4	-	4	524	c.391delG	c.(391-393)gcafs	p.A131fs	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	131					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCTAGGGGTGCCTCAGGACAG	0.438																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(391-393)gcafs		Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						64	57	59					16																	71607459		2188	4273	6461	SO:0001589	frameshift_variant	6898				2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71607459delC		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.391delG	16.37:g.71607459delC	ENSP00000348234:p.Ala131fs		Somatic					p.A131fs	NM_000353	NP_000344	WXS	Illumina GAIIx	Phase_I	P17735	ATTY_HUMAN		Kidney(780;0.0157)	3	490	-		Ovarian(137;0.125)	131					B2R8I1|D3DWS2	Frame_Shift_Del	DEL	ENST00000355962.4	37	c.391delG	CCDS10903.1																																																																																				0.438	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			2	4						2	4	---	---	---	---	-	71607459	C	-	71607459	7	5	114	1	0	1	0	1	0	0	0	0	15587	739	26	0	1009	0	TAT	16	71607459	Frame_Shift_Del	DEL	C	TCGA-DJ-A3UU-01A-11D-A22D-08	67443029	71607459	18747294	12	2032											
TRPV3	162514	broad.mit.edu	37	17	3458080	3458080	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:3458080T>C	ENST00000576742.1	-	2	386	c.65A>G	c.(64-66)aAc>aGc	p.N22S	TRPV3_ENST00000301365.4_Missense_Mutation_p.N22S|TRPV3_ENST00000572519.1_Missense_Mutation_p.N22S	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	22					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGGCAGGGTTCCCACTGGG	0.622																																						uc002fvr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(64-66)aAc>aGc		Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	Menthol(DB00825)						43	44	43					17																	3458080		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3458080T>C	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.65A>G	17.37:g.3458080T>C	ENSP00000461518:p.Asn22Ser		Somatic				TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.N22S|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.N22S	p.N22S	NM_145068	NP_659505	WXS	Illumina GAIIx	Phase_I	Q8NET8	TRPV3_HUMAN			1	387	-			22					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.65A>G	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	T	7.679	0.688666	0.14973	.	.	ENSG00000167723	ENST00000381913;ENST00000301365	T	0.41400	1.0	4.79	2.46	0.29980	.	0.420762	0.22614	N	0.057785	T	0.20820	0.0501	N	0.14661	0.345	0.21184	N	0.999762	B;B;B	0.17038	0.004;0.02;0.004	B;B;B	0.19946	0.015;0.027;0.015	T	0.06899	-1.0801	10	0.26408	T	0.33	-10.7718	4.6796	0.12729	0.1888:0.0:0.1963:0.6149	.	22;22;22	Q8NET8-3;Q8NET8;Q8NET8-2	.;TRPV3_HUMAN;.	S	22	ENSP00000301365:N22S	ENSP00000301365:N22S	N	-	2	0	TRPV3	3404830	0.732000	0.28121	0.993000	0.49108	0.186000	0.23388	0.930000	0.28858	1.943000	0.56356	0.379000	0.24179	AAC		0.622	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		3	70	0	0	0	1	0	3	70					C	3458080	T	C	3458080	3	2	114	1	0	0	0	0	1	0	0	0	16594	1725	60	3	2375	3	TRPV3	17	3458080	Missense_Mutation	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08		3458080	77737130	13	2033											
IMP5	162540	broad.mit.edu	37	17	43923926	43923926	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:43923926G>A	ENST00000329196.5	+	1	1671	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	552						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCAGGAGGGCGCAGCAGATGC	0.612																																						uc010wka.2																			0											c.(1654-1656)Gca>Aca		Homo sapiens intramembrane protease 5 (IMP5), mRNA.							44	44	44					17																	43923926		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923926G>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1654G>A	17.37:g.43923926G>A	ENSP00000332488:p.Ala552Thr		Somatic				MAPT-AS1_uc010wjz.2_Intron	p.A552T	NM_175882	NP_787078	WXS	Illumina GAIIx	Phase_I	Q8IUH8	IMP5_HUMAN			0	1671	+			552					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.1654G>A	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164896	0.21538	.	.	ENSG00000185294	ENST00000329196	T	0.05199	3.48	4.71	-9.42	0.00610	.	1.376840	0.05156	N	0.496902	T	0.02767	0.0083	N	0.17474	0.49	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.38950	-0.9637	10	0.13853	T	0.58	-21.1943	4.6264	0.12481	0.5924:0.1832:0.1323:0.092	.	552	Q8IUH8	IMP5_HUMAN	T	552	ENSP00000332488:A552T	ENSP00000332488:A552T	A	+	1	0	AC217771.1	41279706	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.226000	0.02953	-2.381000	0.00594	-0.136000	0.14681	GCA		0.612	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		3	55	0	0	0	1	0	3	55					A	43923926	G	A	43923926	3	1	114	1	0	0	0	0	1	0	0	0	7721	1087	38	1	1656	1	IMP5	17	43923926	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	40465846	43923926	37271284	14	2034											
PDHA1	5160	broad.mit.edu	37	X	19369470	19369470	+	Silent	SNP	C	C	T	rs183170654		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:19369470C>T	ENST00000422285.2	+	4	468	c.363C>T	c.(361-363)caC>caT	p.H121H	PDHA1_ENST00000540249.1_Silent_p.H121H|PDHA1_ENST00000545074.1_Silent_p.H128H|PDHA1_ENST00000379806.5_Silent_p.H159H|PDHA1_ENST00000379805.3_Silent_p.H121H			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	121					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					ACCGGGCTCACGGCTTTACTT	0.517													C|||	1	0.000264901	0	0	3775	,	,		11597	0		0.001	False		,,,				2504	0					uc004czh.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	GRCh37	CM043047	PDHA1	M	rs183170654	c.(475-477)caC>caT		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	NADH(DB00157)						110	101	104					X																	19369470		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369470C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.363C>T	X.37:g.19369470C>T			Somatic				PDHA1_uc011mjc.2_Silent_p.H128H|PDHA1_uc004czg.4_Silent_p.H121H|PDHA1_uc011mjd.2_Silent_p.H121H	p.H159H	NM_001173454	NP_001166925	WXS	Illumina GAIIx	Phase_I	P08559	ODPA_HUMAN			4	622	+	Hepatocellular(33;0.183)		121					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.477C>T	CCDS14192.1																																																																																				0.517	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			11	206	0	0	0	1	0	11	206					T	19369470	C	T	19369470	2	4	114	1	0	0	0	0	0	0	0	1	11664	535	19	1		1	PDHA1	23	19369470	Silent	SNP	C	TCGA-DJ-A3UU-01A-11D-A22D-08		19369470	135901090	15	2035											
RAB41	407	broad.mit.edu	37	X	69502665	69502665	+	IGR	SNP	T	T	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:69502665T>C	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.I65T|RAB41_ENST00000374473.2_Missense_Mutation_p.I66T	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACTGTTGGAATTGACTTCTTG	0.433																																						uc010nkv.3																			0				breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						c.(193-195)aTt>aCt		Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA.							216	175	189					X																	69502665		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502665T>C		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502665T>C			Somatic					p.I65T	NM_001032726	NP_001027898	WXS	Illumina GAIIx	Phase_I	Q5JT25	RAB41_HUMAN			2	240	+			66					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.194T>C	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763570	0.49574	.	.	ENSG00000147127	ENST00000509895;ENST00000374473;ENST00000276066	T;T;T	0.81163	-1.46;-1.46;-1.46	4.44	-2.49	0.06403	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000021	T	0.79423	0.4443	L	0.46947	1.48	0.31455	N	0.670222	D;D	0.65815	0.995;0.957	P;P	0.61592	0.852;0.891	T	0.76503	-0.2935	10	0.72032	D	0.01	.	5.4605	0.16614	0.0:0.3344:0.141:0.5246	.	65;66	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	T	15;66;65	ENSP00000421643:I15T;ENSP00000363597:I66T;ENSP00000276066:I65T	ENSP00000276066:I65T	I	+	2	0	RAB41	69419390	1.000000	0.71417	0.001000	0.08648	0.682000	0.39822	1.553000	0.36255	-0.721000	0.04929	0.417000	0.27973	ATT		0.433	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		7	201	0	0	0	1	0	7	201					C	69502665	T	C	69502665	1	2	114	0	1	0	0	0	0	0	0	0	12943	1493	52	3		3	RAB41	23	69502665	IGR	SNP	T	TCGA-DJ-A3UU-01A-11D-A22D-08	50133195	69502665	85767895	16	2036											
ALG13	79868	broad.mit.edu	37	X	110952238	110952238	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:110952238G>A	ENST00000394780.3	+	5	808	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.V162I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	266	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GAAGGCTTGTGTCTCATATAT	0.398																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(796-798)Gtc>Atc		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							95	75	81					X																	110952238		1568	3580	5148	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	g.chrX:110952238G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.796G>A	X.37:g.110952238G>A	ENSP00000378260:p.Val266Ile		Somatic				ALG13_uc011msw.2_Missense_Mutation_p.V188I|ALG13_uc011msx.2_Missense_Mutation_p.V162I|ALG13_uc011msz.2_Missense_Mutation_p.V188I|ALG13_uc011mta.2_Missense_Mutation_p.V162I|ALG13_uc011mtb.2_Missense_Mutation_p.V162I	p.V266I	NM_001099922	NP_001093392	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			4	897	+			266			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.796G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607755	0.66558	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	Ovarian tumour, otubain (2);	0.118599	0.34435	U	0.003976	T	0.52805	0.1757	L	0.31476	0.935	0.42711	D	0.993645	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.43909	-0.9362	10	0.24483	T	0.36	-4.1853	17.6548	0.88175	0.0:0.0:1.0:0.0	.	188;266;162	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	I	162;266;162	ENSP00000251943:V162I;ENSP00000378260:V266I;ENSP00000427093:V162I	ENSP00000251943:V162I	V	+	1	0	ALG13	110838894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.439000	0.80444	2.527000	0.85204	0.600000	0.82982	GTC		0.398	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		7	6	0	0	0	1	0	7	6					A	110952238	G	A	110952238	3	1	114	1	0	0	0	0	1	0	0	0	515	1377	48	2	956	2	ALG13	23	110952238	Missense_Mutation	SNP	G	TCGA-DJ-A3UU-01A-11D-A22D-08	41449573	110952238	44318322	17	2037											
SLC6A9	6536	broad.mit.edu	37	1	44482733	44482733	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:44482733A>G	ENST00000360584.2	-	1	264	c.73T>C	c.(73-75)Tct>Cct	p.S25P	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372307.3_5'Flank|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S25P|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000475075.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	25					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)	TCTGGGGAAGAGGGGGCCACA	0.672																																						uc001cll.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(73-75)Tct>Cct		Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	Glycine(DB00145)						28	34	32					1																	44482733		2123	4222	6345	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44482733A>G	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.73T>C	1.37:g.44482733A>G	ENSP00000353791:p.Ser25Pro		Somatic				SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.3_Missense_Mutation_p.S25P|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.S25P|SLC6A9_uc010oko.2_Intron|SLC6A9_uc001cln.3_Intron|SLC6A9_uc010okp.1_Intron	p.S25P	NM_201649	NP_964012	WXS	Illumina GAIIx	Phase_I	P48067	SC6A9_HUMAN			0	265	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	25					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.73T>C	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	A	9.467	1.094615	0.20471	.	.	ENSG00000196517	ENST00000360584;ENST00000357730;ENST00000528803	T;T;T	0.74315	-0.83;-0.81;-0.71	5.09	1.27	0.21489	.	126.916000	0.00166	N	0.000000	T	0.54240	0.1846	N	0.08118	0	0.80722	D	1	B;B;B	0.28512	0.214;0.0;0.0	B;B;B	0.26517	0.07;0.0;0.0	T	0.48080	-0.9066	10	0.30854	T	0.27	.	4.0554	0.09814	0.6297:0.1798:0.1905:0.0	.	25;25;25	B7Z3W8;P48067-3;P48067	.;.;SC6A9_HUMAN	P	25	ENSP00000353791:S25P;ENSP00000350362:S25P;ENSP00000435652:S25P	ENSP00000350362:S25P	S	-	1	0	SLC6A9	44255320	0.975000	0.34042	0.997000	0.53966	0.634000	0.38068	0.053000	0.14184	0.296000	0.22592	0.454000	0.30748	TCT		0.672	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		3	51	0	0	0	1	0	3	51					G	44482733	A	G	44482733	3	3	115	1	0	0	0	0	1	0	0	0	14691	304	11	3	2103	3	SLC6A9	1	44482733	Missense_Mutation	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		44482733	204767888	1	2038											
OR6K6	128371	broad.mit.edu	37	1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438																																						uc001fsw.1																			0				endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)Ttt>Ctt		Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.							149	140	143					1																	158725536		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725536T>C	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.931T>C	1.37:g.158725536T>C	ENSP00000357126:p.Phe311Leu		Somatic					p.F311L	NM_001005184	NP_001005184	WXS	Illumina GAIIx	Phase_I	Q8NGW6	OR6K6_HUMAN			0	931	+	all_hematologic(112;0.0378)		311					B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.931T>C	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	7.953	0.745283	0.15710	.	.	ENSG00000180433	ENST00000368144	T	0.35789	1.29	5.33	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.05914	0.0154	N	0.03281	-0.365	0.29167	N	0.877357	B	0.28667	0.219	B	0.27380	0.079	T	0.16070	-1.0415	10	0.40728	T	0.16	-17.7057	7.5224	0.27635	0.1408:0.0:0.147:0.7122	.	311	Q8NGW6	OR6K6_HUMAN	L	311	ENSP00000357126:F311L	ENSP00000357126:F311L	F	+	1	0	OR6K6	156992160	0.000000	0.05858	0.973000	0.42090	0.816000	0.46133	-1.108000	0.03313	1.043000	0.40175	-0.257000	0.10917	TTT		0.438	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		3	100	0	0	0	1	0	3	100					C	158725536	T	C	158725536	3	2	115	1	0	0	0	0	1	0	0	0	11204	1609	56	3	933	3	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-DJ-A3UW-01A-11D-A22D-08	114242803	158725536	90525085	2	2039											
RNPEPL1	57140	broad.mit.edu	37	2	241516021	241516021	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr2:241516021C>T	ENST00000270357.4	+	9	1480	c.887C>T	c.(886-888)tCc>tTc	p.S296F	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	296					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)		TCTCAGGGATCCAGCCTGACC	0.662																																						uc002vzi.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(886-888)tCc>tTc		Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.							25	29	27					2																	241516021		2199	4289	6488	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516021C>T			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.887C>T	2.37:g.241516021C>T	ENSP00000270357:p.Ser296Phe		Somatic				RNPEPL1_uc002vzj.3_5'UTR	p.S296F	NM_018226	NP_060696	WXS	Illumina GAIIx	Phase_I	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)	8	1580	+		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)	296					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.887C>T		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097929	0.56075	.	.	ENSG00000142327	ENST00000451363;ENST00000270357;ENST00000437406	T;T	0.46451	3.42;0.87	4.36	4.36	0.52297	Armadillo-type fold (1);	0.288241	0.34291	N	0.004082	T	0.47154	0.1430	L	0.40543	1.245	0.37161	D	0.902573	D;P	0.61080	0.989;0.731	P;B	0.53809	0.735;0.396	T	0.58691	-0.7592	10	0.72032	D	0.01	-29.6847	14.3682	0.66820	0.0:1.0:0.0:0.0	.	202;296	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	F	74;296;49	ENSP00000270357:S296F;ENSP00000403319:S49F	ENSP00000270357:S296F	S	+	2	0	RNPEPL1	241164694	0.573000	0.26676	1.000000	0.80357	0.733000	0.41908	1.574000	0.36482	1.979000	0.57680	0.491000	0.48974	TCC		0.662	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		9	41	0	0	0	1	0	9	41					T	241516021	C	T	241516021	3	4	115	1	0	0	0	0	1	0	0	0	13510	855	30	2	913	2	RNPEPL1	2	241516021	Missense_Mutation	SNP	C	TCGA-DJ-A3UW-01A-11D-A22D-08		241516021	1683352	3	2040											
HRH1	3269	broad.mit.edu	37	3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	rs139664451	byFrequency	TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr3:11301013G>A	ENST00000397056.1	+	3	481	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	97					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552																																						uc010hdr.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(289-291)cGt>cAt		Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	195	182	186		290,290,290,290	2.2	0.6	3	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	HRH1	NM_000861.3,NM_001098211.1,NM_001098212.1,NM_001098213.1	29,29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	97/488,97/488,97/488,97/488	11301013	2,13004	2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301013G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"GPCR / Class A : Histamine receptors"	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.290G>A	3.37:g.11301013G>A	ENSP00000380247:p.Arg97His		Somatic				HRH1_uc010hds.3_Missense_Mutation_p.R97H|HRH1_uc010hdt.3_Missense_Mutation_p.R97H|HRH1_uc003bwb.4_Missense_Mutation_p.R97H|HRH1_uc021wtb.1_Missense_Mutation_p.R97H	p.R97H	NM_001098213	NP_001091683	WXS	Illumina GAIIx	Phase_I	P35367	HRH1_HUMAN			1	632	+			97					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.290G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693340	0.30052	2.27E-4	1.16E-4	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.73047	-0.71;-0.71;-0.71	5.87	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.346611	0.28606	N	0.014755	T	0.57888	0.2084	L	0.58302	1.8	0.09310	N	1	P	0.35551	0.509	B	0.30401	0.115	T	0.45056	-0.9287	10	0.28530	T	0.3	-11.8412	6.106	0.20073	0.2733:0.0:0.5977:0.129	.	97	P35367	HRH1_HUMAN	H	97	ENSP00000406705:R97H;ENSP00000397028:R97H;ENSP00000380247:R97H	ENSP00000380247:R97H	R	+	2	0	HRH1	11276013	0.004000	0.15560	0.592000	0.28758	0.835000	0.47333	1.521000	0.35910	0.409000	0.25649	0.655000	0.94253	CGT		0.552	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			5	218	0	0	0	1	0	5	218					A	11301013	G	A	11301013	3	1	115	1	0	0	0	0	1	0	0	0	7355	1145	40	1	292	1	HRH1	3	11301013	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		11301013	186721417	4	2041											
SEMA6A	57556	broad.mit.edu	37	5	115783144	115783144	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr5:115783144G>A	ENST00000343348.6	-	19	3045	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	SEMA6A_ENST00000513137.1_Missense_Mutation_p.T180M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T230M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T770M|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T753M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T132M|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	753					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGGAGGGCCGTCAGGTCCAG	0.637																																						uc003krx.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2308-2310)aCg>aTg		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.							113	126	121					5																	115783144		2181	4270	6451	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783144G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2258C>T	5.37:g.115783144G>A	ENSP00000345512:p.Thr753Met		Somatic				SEMA6A_uc010jck.3_Missense_Mutation_p.T753M|SEMA6A_uc011cwe.2_Missense_Mutation_p.T132M|SEMA6A_uc003krv.4_Missense_Mutation_p.T180M|SEMA6A_uc003krw.4_Missense_Mutation_p.T230M|SEMA6A_uc010jcj.3_Missense_Mutation_p.T297M	p.T770M	NM_020796	NP_065847	WXS	Illumina GAIIx	Phase_I	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3018	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	753					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2309C>T	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.286663|2.286663	0.40494|0.40494	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.45276	.|2.2;2.2;0.9;2.71;0.9;2.2	5.2|5.2	4.31|4.31	0.51392|0.51392	.|.	.|0.262839	.|0.38005	.|N	.|0.001859	T|T	0.29684|0.29684	0.0741|0.0741	N|N	0.08118|0.08118	0|0	0.42214|0.42214	D|D	0.991826|0.991826	.|P;P;P;P;P;P	.|0.50819	.|0.939;0.752;0.752;0.843;0.872;0.809	.|B;B;B;P;B;B	.|0.44946	.|0.406;0.24;0.323;0.465;0.198;0.337	T|T	0.34104|0.34104	-0.9842|-0.9842	5|10	.|0.87932	.|D	.|0	.|.	15.2272|15.2272	0.73359|0.73359	0.0:0.1415:0.8585:0.0|0.0:0.1415:0.8585:0.0	.|.	.|132;753;297;770;230;180	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	W|M	268|753;770;180;230;132;753	.|ENSP00000345512:T753M;ENSP00000257414:T770M;ENSP00000422997:T180M;ENSP00000282394:T230M;ENSP00000425364:T132M;ENSP00000424388:T753M	.|ENSP00000257414:T770M	R|T	-|-	1|2	2|0	SEMA6A|SEMA6A	115811043|115811043	1.000000|1.000000	0.71417|0.71417	0.639000|0.639000	0.29394|0.29394	0.854000|0.854000	0.48673|0.48673	7.602000|7.602000	0.82796|0.82796	1.146000|1.146000	0.42352|0.42352	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.637	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	243	0	0	0	1	0	5	243					A	115783144	G	A	115783144	3	1	115	1	0	0	0	0	1	0	0	0	14039	1145	40	1	838	1	SEMA6A	5	115783144	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		115783144	65132116	5	2042											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	68	0	0	0	1	0	16	68					T	140453136	A	T	140453136	3	4	115	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		140453136	18685527	6	2043											
TMPRSS4	56649	broad.mit.edu	37	11	117984149	117984149	+	Splice_Site	SNP	A	A	G			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr11:117984149A>G	ENST00000437212.3	+	9	1123	c.909A>G	c.(907-909)tcA>tcG	p.S303S	TMPRSS4_ENST00000523251.1_Splice_Site_p.S263S|TMPRSS4_ENST00000522307.1_Splice_Site_p.S156S|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000534111.1_Splice_Site_p.S301S|TMPRSS4_ENST00000522824.1_Splice_Site_p.S298S			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	303	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TCACTTTCTCAGGTGAGAAGC	0.517																																						uc021qrd.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.e9+1		Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.							116	97	104					11																	117984149		2200	4296	6496	SO:0001630	splice_region_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117984149A>G	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.910+1A>G	11.37:g.117984149A>G			Somatic				TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Splice_Site_p.G299_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.G302_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.G264_splice|TMPRSS4_uc010rxq.2_Splice_Site_p.G157_splice|TMPRSS4_uc010rxr.2_Splice_Site_p.G279_splice|TMPRSS4_uc010rxt.2_Splice_Site_p.G279_splice	p.G304_splice	NM_019894	NP_063947	WXS	Illumina GAIIx	Phase_I	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	9	1201	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	304			Peptidase S1.		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Splice_Site	SNP	ENST00000437212.3	37	c.910_splice	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	A	7.052	0.564659	0.13498	.	.	ENSG00000137648	ENST00000524218	.	.	.	5.3	1.71	0.24356	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41448	-0.9508	4	.	.	.	.	6.8428	0.23973	0.5507:0.3135:0.0:0.1358	.	.	.	.	R	48	.	.	Q	+	2	0	TMPRSS4	117489359	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	0.906000	0.28517	0.036000	0.15547	0.533000	0.62120	CAG		0.517	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	Silent	3	81	0	0	0	1	0	3	81					G	117984149	A	G	117984149	5	3	115	1	0	0	0	0	0	0	1	0	16246	202	7	3	943	3	TMPRSS4	11	117984149	Splice_Site	SNP	A	TCGA-DJ-A3UW-01A-11D-A22D-08		117984149	17022367	7	2044											
ITPR2	3709	broad.mit.edu	37	12	26809335	26809335	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr12:26809335C>T	ENST00000381340.3	-	19	2755	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	780					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)	GAGCATGAGGCGACAGAAGGA	0.562																																						uc001rhg.3																		ETV6/ITPR2(2)	0		p.C779*(1)		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.(2338-2340)cGc>cAc		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							73	78	77					12																	26809335		2047	4196	6243	SO:0001583	missense	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.chr12:26809335C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2339G>A	12.37:g.26809335C>T	ENSP00000370744:p.Arg780His		Somatic					p.R780H	NM_002223	NP_002214	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			18	2756	-	Colorectal(261;0.0847)		780					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2339G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977008	0.74360	.	.	ENSG00000123104	ENST00000381340	D	0.92495	-3.05	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	M	0.70903	2.155	0.80722	D	1	B	0.19073	0.033	B	0.18263	0.021	D	0.88851	0.3319	10	0.42905	T	0.14	.	18.0329	0.89290	0.0:1.0:0.0:0.0	.	780	Q14571	ITPR2_HUMAN	H	780	ENSP00000370744:R780H	ENSP00000370744:R780H	R	-	2	0	ITPR2	26700602	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.596000	0.82721	2.546000	0.85860	0.655000	0.94253	CGC		0.562	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		10	63	0	0	0	1	0	10	63					T	26809335	C	T	26809335	3	4	115	1	0	0	0	0	1	0	0	0	7921	768	27	1	5922	1	ITPR2	12	26809335	Missense_Mutation	SNP	C	TCGA-DJ-A3UW-01A-11D-A22D-08		26809335	107042560	8	2045											
DUOX1	53905	broad.mit.edu	37	15	45427465	45427465	+	Silent	SNP	G	G	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr15:45427465G>A	ENST00000321429.4	+	6	878	c.471G>A	c.(469-471)cgG>cgA	p.R157R	DUOX1_ENST00000389037.3_Silent_p.R157R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	157	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGACCGGACGGAGTCCCAGCA	0.726																																						uc001zus.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(469-471)cgG>cgA		Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.							10	12	11					15																	45427465		2160	4262	6422	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	g.chr15:45427465G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.471G>A	15.37:g.45427465G>A			Somatic				DUOX1_uc001zut.1_Silent_p.R157R|DUOX1_uc010bee.1_5'UTR	p.R157R	NM_017434	NP_787954	WXS	Illumina GAIIx	Phase_I	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	5	817	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	157			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.471G>A	CCDS32221.1																																																																																				0.726	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		6	14	0	0	0	1	0	6	14					A	45427465	G	A	45427465	2	1	115	1	0	0	0	0	0	0	0	1	4800	1161	41	2		2	DUOX1	15	45427465	Silent	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		45427465	57103927	9	2046											
FHOD1	29109	broad.mit.edu	37	16	67264231	67264231	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr16:67264231G>A	ENST00000258201.4	-	19	3284	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1013	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTGATCATGCGTCCCCGGGTC	0.582																																						uc002esl.3																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3037-3039)Cgc>Tgc		Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.							76	75	76					16																	67264231		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264231G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3037C>T	16.37:g.67264231G>A	ENSP00000258201:p.Arg1013Cys		Somatic				FHOD1_uc010ced.3_Missense_Mutation_p.R820C	p.R1013C	NM_013241	NP_037373	WXS	Illumina GAIIx	Phase_I	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	18	3149	-		Ovarian(137;0.0563)	1013			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3037C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736847	0.69304	.	.	ENSG00000135723	ENST00000258201	T	0.39056	1.1	5.09	5.09	0.68999	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.048641	0.85682	D	0.000000	T	0.57315	0.2045	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.58885	-0.7557	10	0.87932	D	0	.	12.3301	0.55035	0.0:0.0:0.8312:0.1688	.	1013	Q9Y613	FHOD1_HUMAN	C	1013	ENSP00000258201:R1013C	ENSP00000258201:R1013C	R	-	1	0	FHOD1	65821732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.834000	0.55798	2.656000	0.90262	0.561000	0.74099	CGC		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			3	66	0	0	0	1	0	3	66					A	67264231	G	A	67264231	3	1	115	1	0	0	0	0	1	0	0	0	5882	1145	40	1	473	1	FHOD1	16	67264231	Missense_Mutation	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		67264231	23090522	10	2047											
CBX2	84733	broad.mit.edu	37	17	77755652	77755652	+	Intron	SNP	G	G	A	rs201168057		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr17:77755652G>A	ENST00000310942.4	+	4	392				CBX2_ENST00000269399.5_Missense_Mutation_p.V114I	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2						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)	p.V114L(1)		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)			CCCCCTTGGCGTAGGGGGCAG	0.637																																						uc002jxb.2																			1	Substitution - Missense(1)	p.V114L(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(340-342)Gta>Ata		Homo sapiens chromobox homolog 2 (CBX2), transcript variant 2, mRNA.		G	,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	40	47	45		,340	-2.8	0.0	17		45	0,8596		0,0,4298	no	intron,missense	CBX2	NM_005189.2,NM_032647.3	,29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	,114/212	77755652	1,13001	2203	4298	6501	SO:0001627	intron_variant	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.chr17:77755652G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.288+52G>A	17.37:g.77755652G>A			Somatic				CBX2_uc002jxc.3_Intron	p.V114I	NM_032647	NP_116036	WXS	Illumina GAIIx	Phase_I	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	398	+			0			Ser-rich.		Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.340G>A	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759571	0.31137	2.27E-4	0.0	ENSG00000173894	ENST00000269399	.	.	.	3.44	-2.75	0.05914	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.09310	N	1	P	0.38863	0.65	B	0.26614	0.071	T	0.18085	-1.0348	6	.	.	.	.	0.5403	0.00644	0.3715:0.1867:0.2668:0.1749	.	114	Q14781-2	.	I	114	.	.	V	+	1	0	CBX2	75370247	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.406000	0.02490	-0.380000	0.07894	0.561000	0.74099	GTA		0.637	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		4	61	0	0	0	1	0	4	61					A	77755652	G	A	77755652	1	1	115	0	1	0	0	0	0	0	0	0	2718	1145	40	1		1	CBX2	17	77755652	Intron	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		77755652	3439558	11	2048											
KIAA1683	80726	broad.mit.edu	37	19	18368263	18368263	+	Silent	SNP	G	G	A	rs369557718		TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:18368263G>A	ENST00000600328.3	-	4	3463	c.3270C>T	c.(3268-3270)ggC>ggT	p.G1090G	PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000600359.3_Silent_p.G1044G|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.G1277G			Q9H0B3	K1683_HUMAN	KIAA1683	1090						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCCCCGGGGCCCTCAGTGC	0.687																																						uc010ebn.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3829-3831)ggC>ggT		Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.		G	,,	3,4391		0,3,2194	17	19	18		3831,3132,3270	2.2	0.0	19		18	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	,,	0,3,6489	AA,AG,GG		0.0,0.0683,0.0231	,,	1277/1368,1044/1135,1090/1181	18368263	3,12981	2197	4295	6492	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368263G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3270C>T	19.37:g.18368263G>A			Somatic				PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.G1090G|KIAA1683_uc010xqe.1_Silent_p.G1044G|KIAA1683_uc010xqf.1_Non-coding_Transcript	p.G1277G	NM_001145304	NP_001138776	WXS	Illumina GAIIx	Phase_I	Q9H0B3	K1683_HUMAN			3	4047	-			0					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3831C>T	CCDS32958.1																																																																																				0.687	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			4	22	0	0	0	1	0	4	22					A	18368263	G	A	18368263	2	1	115	1	0	0	0	0	0	0	0	1	8251	1190	42	2		2	KIAA1683	19	18368263	Silent	SNP	G	TCGA-DJ-A3UW-01A-11D-A22D-08		18368263	40760720	12	2049											
SHANK1	50944	broad.mit.edu	37	19	51171483	51171483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3UW-01A-11D-A22D-08	TCGA-DJ-A3UW-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b2700c9-c5cd-43cc-9921-8c1da6c3daa2	c186be48-2e85-4d41-a984-6d7806aae265	g.chr19:51171483delC	ENST00000293441.1	-	22	3752	c.3734delG	c.(3733-3735)ggcfs	p.G1245fs	SHANK1_ENST00000391813.1_Frame_Shift_Del_p.G632fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.G1236fs|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.G1253fs|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1245					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)		ATTCTGCCAGCCCCCCTCCCT	0.796																																						uc002psx.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.(3733-3735)ggcfs		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							3	4	4					19																	51171483		1264	2727	3991	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51171483delC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.3734delG	19.37:g.51171483delC	ENSP00000293441:p.Gly1245fs		Somatic				SHANK1_uc002psw.1_Frame_Shift_Del_p.G629fs	p.G1245fs	NM_016148	NP_057232	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	21	3753	-		all_neural(266;0.057)	1245					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.3734delG	CCDS12799.1																																																																																				0.796	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		2	4						2	4	---	---	---	---	-	51171483	C	-	51171483	7	5	115	1	0	1	0	1	0	0	0	0	14264	739	26	0	2759	0	SHANK1	19	51171483	Frame_Shift_Del	DEL	C	TCGA-DJ-A3UW-01A-11D-A22D-08	32803220	51171483	7957500	13	2050											
KAZ	23254	broad.mit.edu	37	1	14925625	14925625	+	Silent	SNP	C	C	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr1:14925625C>T	ENST00000376030.2	+	1	426	c.132C>T	c.(130-132)ggC>ggT	p.G44G	KAZN_ENST00000422387.2_Silent_p.G44G|KAZN_ENST00000503743.1_Silent_p.G44G	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	44					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						gcggcggcggcggccccggcc	0.741																																						uc001avm.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(130-132)ggC>ggT		Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.							7	9	9					1																	14925625		1768	3964	5732	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:14925625C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.132C>T	1.37:g.14925625C>T			Somatic				KAZN_uc009vog.1_Silent_p.G44G	p.G44G	NM_201628	NP_963922	WXS	Illumina GAIIx	Phase_I	Q674X7	KAZRN_HUMAN			0	413	+			44					B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.132C>T	CCDS152.2																																																																																				0.741	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		3	31	0	0	0	1	0	3	31					T	14925625	C	T	14925625	2	4	116	1	0	0	0	0	0	0	0	1	7988	755	27	1		1	KAZ	1	14925625	Silent	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		14925625	234324996	1	2051											
PKLR	5313	broad.mit.edu	37	1	155263298	155263298	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr1:155263298G>A	ENST00000342741.4	-	8	1238	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	PKLR_ENST00000392414.3_Silent_p.D369D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	400					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCATGATGCAGTCAGCCCCAT	0.582																																						uc001fkb.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1198-1200)gaC>gaT		Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Pyruvic acid(DB00119)						83	69	74					1																	155263298		2203	4300	6503	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155263298G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1200C>T	1.37:g.155263298G>A			Somatic				PKLR_uc001fka.4_Silent_p.D369D	p.D400D	NM_000298	NP_000289	WXS	Illumina GAIIx	Phase_I	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		7	1239	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		400					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.1200C>T	CCDS1109.1																																																																																				0.582	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		3	71	0	0	0	1	0	3	71					A	155263298	G	A	155263298	2	1	116	1	0	0	0	0	0	0	0	1	11976	1020	36	2		2	PKLR	1	155263298	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08	140337673	155263298	93987323	2	2052											
GPR35	2859	broad.mit.edu	37	2	241569925	241569925	+	Missense_Mutation	SNP	G	G	A	rs146267919		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr2:241569925G>A	ENST00000319838.5	+	6	1498	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	GPR35_ENST00000430267.1_Missense_Mutation_p.V186M|GPR35_ENST00000403859.1_Missense_Mutation_p.V186M|GPR35_ENST00000407714.1_Missense_Mutation_p.V186M|GPR35_ENST00000438013.2_Missense_Mutation_p.V217M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	186					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCCCCTGGCCGTGGTGGTCTT	0.662																																						uc010fzi.2																			0		p.R217H(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(649-651)Gtg>Atg		Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.		G	MET/VAL,MET/VAL,MET/VAL	0,4398		0,0,2199	39	43	41		649,649,556	0.9	1.0	2	dbSNP_134	41	1,8593		0,1,4296	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	21,21,21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	217/341,217/341,186/310	241569925	1,12991	2199	4297	6496	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569925G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.556G>A	2.37:g.241569925G>A	ENSP00000322731:p.Val186Met		Somatic				GPR35_uc010fzh.2_Missense_Mutation_p.V217M|GPR35_uc021vze.1_Missense_Mutation_p.V186M|GPR35_uc002vzs.2_Missense_Mutation_p.V186M	p.V217M	NM_001195381	NP_001182310	WXS	Illumina GAIIx	Phase_I	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	5	1521	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	186					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.649G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109884	0.37242	0.0	1.16E-4	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	3.91	0.89	0.19218	GPCR, rhodopsin-like superfamily (1);	0.275102	0.29073	U	0.013239	T	0.54431	0.1858	M	0.78344	2.41	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.99	D;D;P	0.66847	0.947;0.913;0.857	T	0.42732	-0.9434	10	0.72032	D	0.01	-14.0955	3.0461	0.06154	0.3535:0.2222:0.4243:0.0	.	271;217;186	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	M	186;186;217;186;186	ENSP00000322731:V186M;ENSP00000385140:V186M;ENSP00000415890:V217M;ENSP00000384263:V186M;ENSP00000411788:V186M	ENSP00000322731:V186M	V	+	1	0	GPR35	241218598	0.000000	0.05858	0.999000	0.59377	0.527000	0.34593	0.200000	0.17257	0.375000	0.24679	0.455000	0.32223	GTG		0.662	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		3	83	0	0	0	1	0	3	83					A	241569925	G	A	241569925	3	1	116	1	0	0	0	0	1	0	0	0	6690	1145	40	1	558	1	GPR35	2	241569925	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		241569925	1629448	3	2053											
CACNA1D	776	broad.mit.edu	37	3	53700562	53700562	+	Splice_Site	SNP	G	G	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr3:53700562G>T	ENST00000350061.5	+	7	1627	c.1116G>T	c.(1114-1116)tgG>tgT	p.W372C	CACNA1D_ENST00000288139.4_Splice_Site_p.W372C|CACNA1D_ENST00000422281.2_Splice_Site_p.W372C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	372					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)	TGCTCTACTGGGTAAGTACCC	0.502																																						uc003dgu.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.e7+1		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 1, mRNA.	Verapamil(DB00661)						126	128	127					3																	53700562		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.chr3:53700562G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1116+1G>T	3.37:g.53700562G>T			Somatic				CACNA1D_uc003dgv.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgy.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgw.4_Splice_Site_p.W19_splice	p.W372_splice	NM_000720	NP_000711	WXS	Illumina GAIIx	Phase_I	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)	7	1279	+			372					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37	c.1116_splice	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.191033|3.191033	0.58017|0.58017	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.98419	.|-4.92;-4.92;-4.92;-4.92	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Ion transport (1);	.|.	.|.	.|.	.|.	D|D	0.99180|0.99180	0.9716|0.9716	M|M	0.91140|0.91140	3.18|3.18	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	.|0.91635	.|0.999;0.99;0.981;0.999	D|D	0.99338|0.99338	1.0911|1.0911	5|9	.|0.87932	.|D	.|0	.|.	18.6007|18.6007	0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372;45;372;372	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	V|C	58|372;372;372;45	.|ENSP00000288133:W372C;ENSP00000288139:W372C;ENSP00000409174:W372C;ENSP00000418014:W45C	.|ENSP00000288139:W372C	G|W	+|+	2|3	0|0	CACNA1D|CACNA1D	53675602|53675602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.340000|0.340000	0.28889|0.28889	9.601000|9.601000	0.98297|0.98297	2.629000|2.629000	0.89072|0.89072	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	Missense_Mutation	6	234	0	0	0	1	0	6	234					T	53700562	G	T	53700562	5	4	116	1	0	0	0	0	0	0	1	0	2541	1246	43	4	1142	4	CACNA1D	3	53700562	Splice_Site	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		53700562	144321868	4	2054											
AGPAT9	84803	broad.mit.edu	37	4	84465712	84465712	+	Silent	SNP	A	A	G			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:84465712A>G	ENST00000395226.2	+	3	383	c.165A>G	c.(163-165)aaA>aaG	p.K55K	AGPAT9_ENST00000264409.4_Silent_p.K55K	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	55					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GAATTGAAAAAGGAACCCCAA	0.343																																						uc003how.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(163-165)aaA>aaG		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.							193	208	203					4																	84465712		2203	4300	6503	SO:0001819	synonymous_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84465712A>G	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.165A>G	4.37:g.84465712A>G			Somatic				AGPAT9_uc003hox.3_Silent_p.K55K|AGPAT9_uc003hoy.3_Silent_p.K55K	p.K55K	NM_032717	NP_116106	WXS	Illumina GAIIx	Phase_I	Q53EU6	GPAT3_HUMAN			2	383	+		Hepatocellular(203;0.114)	55					Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	c.165A>G	CCDS3606.1																																																																																				0.343	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		3	185	0	0	0	1	0	3	185					G	84465712	A	G	84465712	2	3	116	1	0	0	0	0	0	0	0	1	392	69	3	3		3	AGPAT9	4	84465712	Silent	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		84465712	106688564	5	2055											
ADH7	131	broad.mit.edu	37	4	100350697	100350697	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr4:100350697G>A	ENST00000209665.4	-	2	388	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ADH7_ENST00000476959.1_Missense_Mutation_p.R58C|ADH7_ENST00000437033.2_Missense_Mutation_p.R38C|ADH7_ENST00000482593.1_5'UTR	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	50					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ACCTTAATGCGAACTTCTTTA	0.403																																						uc021xqj.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(172-174)Cgc>Tgc		Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 1, mRNA.	NADH(DB00157)						98	85	90					4																	100350697		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100350697G>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.148C>T	4.37:g.100350697G>A	ENSP00000209665:p.Arg50Cys		Somatic				ADH7_uc003huv.2_Missense_Mutation_p.R50C	p.R58C	NM_001166504	NP_001159976	WXS	Illumina GAIIx	Phase_I	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	1	202	-			50					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.172C>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559571	0.65538	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000476959	T;T;T	0.05199	3.48;3.48;3.48	4.05	1.29	0.21616	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.171784	0.52532	D	0.000065	T	0.23532	0.0569	H	0.94886	3.595	0.80722	D	1	D	0.55800	0.973	P	0.56823	0.807	T	0.01287	-1.1395	10	0.72032	D	0.01	-16.1279	6.3998	0.21632	0.16:0.0:0.6933:0.1467	.	50	P40394	ADH7_HUMAN	C	38;50;58	ENSP00000414254:R38C;ENSP00000209665:R50C;ENSP00000420269:R58C	ENSP00000209665:R50C	R	-	1	0	ADH7	100569720	0.997000	0.39634	0.028000	0.17463	0.978000	0.69477	5.693000	0.68264	0.121000	0.18284	0.655000	0.94253	CGC		0.403	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		6	23	0	0	0	1	0	6	23					A	100350697	G	A	100350697	3	1	116	1	0	0	0	0	1	0	0	0	313	1058	37	1	1044	1	ADH7	4	100350697	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08	15884985	100350697	90803579	6	2056											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	104	0	0	0	1	0	24	104					T	140453136	A	T	140453136	3	4	116	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		140453136	18685527	7	2057											
EPPK1	83481	broad.mit.edu	37	8	144941254	144941254	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr8:144941254G>A	ENST00000525985.1	-	2	6239	c.6168C>T	c.(6166-6168)gaC>gaT	p.D2056D				P58107	EPIPL_HUMAN	epiplakin 1	2056						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)			GCGTGTTCGGGTCCACAAACC	0.587																																						uc003zaa.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.(6166-6168)gaC>gaT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							73	78	76					8																	144941254		2132	4241	6373	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941254G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6168C>T	8.37:g.144941254G>A			Somatic					p.D2056D	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	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)		0	6181	-	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)		2056					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6168C>T																																																																																					0.587	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	76	0	0	0	1	0	3	76					A	144941254	G	A	144941254	2	1	116	1	0	0	0	0	0	0	0	1	5190	1252	44	2		2	EPPK1	8	144941254	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		144941254	1422768	8	2058											
NPM3	10360	broad.mit.edu	37	10	103542065	103542065	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr10:103542065C>A	ENST00000370110.5	-	4	390	c.368G>T	c.(367-369)cGc>cTc	p.R123L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	123					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGACTTCAGGCGGAAGGTTAC	0.602																																						uc001ktt.3																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(367-369)cGc>cTc		Homo sapiens nucleophosmin/nucleoplasmin 3 (NPM3), mRNA.							68	68	68					10																	103542065		2203	4300	6503	SO:0001583	missense	10360						nucleic acid binding	g.chr10:103542065C>A	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.368G>T	10.37:g.103542065C>A	ENSP00000359128:p.Arg123Leu		Somatic				FGF8_uc021pxg.1_5'Flank	p.R123L	NM_006993	NP_008924	WXS	Illumina GAIIx	Phase_I	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	3	391	-		Colorectal(252;0.122)	123					Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	c.368G>T	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462594	0.84425	.	.	ENSG00000107833	ENST00000370110	T	0.55930	0.49	5.61	2.75	0.32379	Nucleoplasmin core (2);	0.048583	0.85682	D	0.000000	T	0.63034	0.2477	M	0.66297	2.02	0.52501	D	0.99995	D	0.62365	0.991	P	0.60012	0.867	T	0.64162	-0.6472	10	0.72032	D	0.01	-15.6254	9.101	0.36669	0.0:0.7693:0.0:0.2307	.	123	O75607	NPM3_HUMAN	L	123	ENSP00000359128:R123L	ENSP00000359128:R123L	R	-	2	0	NPM3	103532055	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.395000	0.44459	0.744000	0.32741	-0.136000	0.14681	CGC		0.602	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		7	29	0	0	0	1	0	7	29					A	103542065	C	A	103542065	3	1	116	1	0	0	0	0	1	0	0	0	10589	768	27	4	176	4	NPM3	10	103542065	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		103542065	31992682	9	2059											
PHRF1	57661	broad.mit.edu	37	11	608072	608072	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:608072G>A	ENST00000264555.5	+	14	2744	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	PHRF1_ENST00000416188.2_Silent_p.T871T|PHRF1_ENST00000533464.1_Silent_p.T868T|PHRF1_ENST00000413872.2_Silent_p.T870T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	872					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						AGGCCCAGACGGTGCAGGCTG	0.657																																						uc001lqe.3																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2614-2616)acG>acA		Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.							70	82	78					11																	608072		2099	4219	6318	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:608072G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2616G>A	11.37:g.608072G>A			Somatic				PHRF1_uc010qwc.2_Silent_p.T871T|PHRF1_uc010qwd.2_Silent_p.T870T|PHRF1_uc010qwe.2_Silent_p.T868T|PHRF1_uc009ybz.1_Silent_p.T662T|PHRF1_uc009yca.2_Non-coding_Transcript	p.T872T	NM_020901	NP_065952	WXS	Illumina GAIIx	Phase_I	Q9P1Y6	PHRF1_HUMAN			13	2747	+			872					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.2616G>A																																																																																					0.657	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	204	0	0	0	1	0	4	204					A	608072	G	A	608072	2	1	116	1	0	0	0	0	0	0	0	1	11861	1103	39	1		1	PHRF1	11	608072	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		608072	134398444	10	2060											
TECTA	7007	broad.mit.edu	37	11	121000902	121000902	+	Missense_Mutation	SNP	C	C	T	rs138696978		TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr11:121000902C>T	ENST00000392793.1	+	10	3194	c.2923C>T	c.(2923-2925)Cgg>Tgg	p.R975W	TECTA_ENST00000264037.2_Missense_Mutation_p.R975W			O75443	TECTA_HUMAN	tectorin alpha	975					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)		GGGGCCCTGGCGGACCTATGA	0.597																																						uc010rzo.2																		TECTA/TBCEL(2)	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.(2923-2925)Cgg>Tgg		Homo sapiens tectorin alpha (TECTA), mRNA.		C	TRP/ARG	0,4406		0,0,2203	52	59	57		2923	0.6	1.0	11	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	missense	TECTA	NM_005422.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	975/2156	121000902	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000902C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2923C>T	11.37:g.121000902C>T	ENSP00000376543:p.Arg975Trp		Somatic					p.R975W	NM_005422	NP_005413	WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	2923	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	975						Missense_Mutation	SNP	ENST00000392793.1	37	c.2923C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444548	0.63178	0.0	1.16E-4	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.84800	-1.9;-1.9	5.4	0.623	0.17654	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	H	0.96430	3.82	0.40192	D	0.977411	D	0.89917	1.0	D	0.97110	1.0	D	0.96205	0.9148	10	0.87932	D	0	.	17.5401	0.87845	0.7748:0.2252:0.0:0.0	.	975	O75443	TECTA_HUMAN	W	975	ENSP00000376543:R975W;ENSP00000264037:R975W	ENSP00000264037:R975W	R	+	1	2	TECTA	120506112	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.611000	0.36879	0.106000	0.17784	0.650000	0.86243	CGG		0.597	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		3	97	0	0	0	1	0	3	97					T	121000902	C	T	121000902	3	4	116	1	0	0	0	0	1	0	0	0	15744	759	27	1	2957	1	TECTA	11	121000902	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08	120392830	121000902	14005614	11	2061											
STAB2	55576	broad.mit.edu	37	12	104107531	104107531	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr12:104107531G>T	ENST00000388887.2	+	42	4726	c.4522G>T	c.(4522-4524)Ggc>Tgc	p.G1508C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACGGGTGATGGCATTGTGTG	0.517																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4522-4524)Ggc>Tgc		Homo sapiens stabilin 2 (STAB2), mRNA.							291	258	269					12																	104107531		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107531G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4522G>T	12.37:g.104107531G>T	ENSP00000373539:p.Gly1508Cys		Somatic				STAB2_uc009zug.3_Non-coding_Transcript	p.G1508C	NM_017564	NP_060034	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			41	4708	+			1508			EGF-like 12.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4522G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216651	0.58452	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.99909	-7.85	5.18	5.18	0.71444	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	H	0.98980	4.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96012	0.9002	10	0.66056	D	0.02	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	1508	Q8WWQ8	STAB2_HUMAN	C	1508;195	ENSP00000373539:G1508C	ENSP00000258495:G195C	G	+	1	0	STAB2	102631661	1.000000	0.71417	0.991000	0.47740	0.212000	0.24457	8.678000	0.91211	2.411000	0.81874	0.555000	0.69702	GGC		0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			72	334	0	0	0	1	0	72	334					T	104107531	G	T	104107531	3	4	116	1	0	0	0	0	1	0	0	0	15237	1348	47	4	4688	4	STAB2	12	104107531	Missense_Mutation	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		104107531	29744364	12	2062											
CDH24	64403	broad.mit.edu	37	14	23523469	23523469	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:23523469C>T	ENST00000267383.5	-	5	945	c.853G>A	c.(853-855)Gac>Aac	p.D285N	CDH24_ENST00000554034.1_Missense_Mutation_p.D285N|CDH24_ENST00000487137.2_Missense_Mutation_p.D285N|CDH24_ENST00000397359.3_Missense_Mutation_p.D285N			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	285	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)	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)		AGGTCTGGGTCCTGGGCCCGG	0.632																																						uc001wil.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.(853-855)Gac>Aac		Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.							86	89	88					14																	23523469		2203	4300	6503	SO:0001583	missense	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.chr14:23523469C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.853G>A	14.37:g.23523469C>T	ENSP00000267383:p.Asp285Asn		Somatic				CDH24_uc010akf.3_Missense_Mutation_p.D285N|CDH24_uc001win.3_Missense_Mutation_p.D285N	p.D285N	NM_022478	NP_071923	WXS	Illumina GAIIx	Phase_I	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	1113	-	all_cancers(95;3.3e-05)		285			Cadherin 3.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.853G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728145	0.89390	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	H	0.97131	3.945	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.89693	0.3899	10	0.87932	D	0	.	16.7125	0.85389	0.0:1.0:0.0:0.0	.	285;285;285	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	N	285	ENSP00000380517:D285N;ENSP00000434821:D285N;ENSP00000452493:D285N;ENSP00000267383:D285N	ENSP00000267383:D285N	D	-	1	0	CDH24	22593309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.215000	0.77966	2.469000	0.83416	0.655000	0.94253	GAC		0.632	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		6	263	0	0	0	1	0	6	263					T	23523469	C	T	23523469	3	4	116	1	0	0	0	0	1	0	0	0	3109	855	30	2	1638	2	CDH24	14	23523469	Missense_Mutation	SNP	C	TCGA-DJ-A3UX-01A-11D-A22D-08		23523469	83826071	13	2063											
LTB4R	1241	broad.mit.edu	37	14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr14:24785074T>C	ENST00000396789.4	+	2	1942	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L|LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	73					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582																																						uc001wos.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(217-219)Ttt>Ctt		Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 2, mRNA.							183	163	170					14																	24785074		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785074T>C	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.217T>C	14.37:g.24785074T>C	ENSP00000380008:p.Phe73Leu		Somatic				LTB4R_uc010alp.3_Missense_Mutation_p.F73L|LTB4R_uc001wou.3_Missense_Mutation_p.F73L|LTB4R_uc021rrq.1_Missense_Mutation_p.F73L	p.F73L	NM_001143919	NP_858043	WXS	Illumina GAIIx	Phase_I	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	538	+			73					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.217T>C	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145293	0.37825	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.89	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.238062	0.36200	U	0.002721	T	0.27629	0.0679	L	0.37466	1.105	0.37507	D	0.917019	B	0.17465	0.022	B	0.17433	0.018	T	0.12142	-1.0559	10	0.20046	T	0.44	.	11.3543	0.49607	0.0:0.0:0.1521:0.8479	.	73	Q15722	LT4R1_HUMAN	L	73	ENSP00000450457:F73L;ENSP00000307445:F73L;ENSP00000380008:F73L;ENSP00000380002:F73L	ENSP00000307445:F73L	F	+	1	0	LTB4R	23854914	0.279000	0.24239	0.998000	0.56505	0.991000	0.79684	0.623000	0.24447	1.009000	0.39289	0.533000	0.62120	TTT		0.582	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			3	193	0	0	0	1	0	3	193					C	24785074	T	C	24785074	3	2	116	1	0	0	0	0	1	0	0	0	9071	1609	56	3	219	3	LTB4R	14	24785074	Missense_Mutation	SNP	T	TCGA-DJ-A3UX-01A-11D-A22D-08	1261605	24785074	82564466	14	2064											
HAPLN3	145864	broad.mit.edu	37	15	89424649	89424649	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr15:89424649G>A	ENST00000359595.3	-	3	646	c.432C>T	c.(430-432)taC>taT	p.Y144Y	HAPLN3_ENST00000562889.1_Silent_p.Y206Y	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	144	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CCTCACAGCGGTAACGCCCAT	0.617																																						uc002bnd.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(616-618)taC>taT		Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.							107	81	90					15																	89424649		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424649G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.432C>T	15.37:g.89424649G>A			Somatic				HAPLN3_uc002bnc.3_Silent_p.Y144Y|HAPLN3_uc002bne.3_Non-coding_Transcript	p.Y206Y	NM_178232	NP_839946	WXS	Illumina GAIIx	Phase_I	Q96S86	HPLN3_HUMAN			3	699	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		144			Link 1.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.618C>T	CCDS10346.1																																																																																				0.617	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		4	141	0	0	0	1	0	4	141					A	89424649	G	A	89424649	2	1	116	1	0	0	0	0	0	0	0	1	6956	1256	44	2		2	HAPLN3	15	89424649	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		89424649	13106743	15	2065											
KSR1	8844	broad.mit.edu	37	17	25909679	25909679	+	Silent	SNP	G	G	A			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr17:25909679G>A	ENST00000319524.6	+	4	528	c.528G>A	c.(526-528)gaG>gaA	p.E176E	KSR1_ENST00000268763.6_Silent_p.E39E|KSR1_ENST00000509603.2_Silent_p.E176E|KSR1_ENST00000398988.3_Silent_p.E39E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	176					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAGGAGGGGAGCACAAGGAGG	0.612																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(115-117)gaG>gaA		Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.							39	42	41					17																	25909679		2000	4183	6183	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25909679G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.528G>A	17.37:g.25909679G>A			Somatic				KSR1_uc002gzj.1_Intron	p.E39E	NM_014238	NP_055053	WXS	Illumina GAIIx	Phase_I	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	562	+	Lung NSC(42;0.00836)		174					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.117G>A																																																																																					0.612	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		3	93	0	0	0	1	0	3	93					A	25909679	G	A	25909679	2	1	116	1	0	0	0	0	0	0	0	1	8581	962	34	2		2	KSR1	17	25909679	Silent	SNP	G	TCGA-DJ-A3UX-01A-11D-A22D-08		25909679	55285531	16	2066											
CHD6	84181	broad.mit.edu	37	20	40118565	40118565	+	Silent	SNP	A	A	G			TCGA-DJ-A3UX-01A-11D-A22D-08	TCGA-DJ-A3UX-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2f3b1f6-fa92-4a30-a848-9715aac69165	c75cda3d-1d47-44d0-b1fd-f426f9062b15	g.chr20:40118565A>G	ENST00000373233.3	-	12	1710	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	CHD6_ENST00000309279.7_Silent_p.P511P	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	511	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAATGAGAAAAGGGCCGTGGA	0.488																																						uc002xka.1																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1531-1533)ccT>ccC		Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.							130	133	132					20																	40118565		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	g.chr20:40118565A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1533T>C	20.37:g.40118565A>G			Somatic				CHD6_uc002xkd.2_Silent_p.P489P	p.P511P	NM_032221	NP_115597	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			11	1711	-		Myeloproliferative disorder(115;0.00425)	511			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.1533T>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	6.158	0.397287	0.11638	.	.	ENSG00000124177	ENST00000440697	.	.	.	5.27	-3.41	0.04839	.	.	.	.	.	T	0.38692	0.1050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34700	-0.9818	4	.	.	.	-11.2335	1.7933	0.03056	0.1515:0.1304:0.3323:0.3858	.	.	.	.	P	214	.	.	L	-	2	0	CHD6	39551979	0.739000	0.28196	0.988000	0.46212	0.553000	0.35397	-0.101000	0.10973	-0.474000	0.06862	-1.487000	0.00979	CTT		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			3	163	0	0	0	1	0	3	163					G	40118565	A	G	40118565	2	3	116	1	0	0	0	0	0	0	0	1	3329	59	3	3		3	CHD6	20	40118565	Silent	SNP	A	TCGA-DJ-A3UX-01A-11D-A22D-08		40118565	22906955	17	2067											
C3orf15	89876	broad.mit.edu	37	3	119469814	119469814	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr3:119469814C>T	ENST00000273390.5	+	17	2251	c.2174C>T	c.(2173-2175)gCa>gTa	p.A725V	MAATS1_ENST00000472117.1_3'UTR|RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	561						mitochondrion (GO:0005739)											CATATTCTTGCAGCCCATCAG	0.413																																						uc003ede.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2173-2175)gCa>gTa		Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.							123	112	116					3																	119469814		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119469814C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.2174C>T	3.37:g.119469814C>T	ENSP00000273390:p.Ala725Val		Somatic				C3orf15_uc010hqz.3_Missense_Mutation_p.A663V|C3orf15_uc011bjd.2_Missense_Mutation_p.A599V|C3orf15_uc011bje.2_Missense_Mutation_p.A705V|C3orf15_uc003edg.4_Non-coding_Transcript|C3orf15_uc003edh.4_Non-coding_Transcript	p.A725V	NM_033364	NP_203528	WXS	Illumina GAIIx	Phase_I	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	16	2251	+			561					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.2174C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527319	0.85706	.	.	ENSG00000183833	ENST00000273390	T	0.28069	1.63	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.982;0.998	T	0.58741	-0.7583	10	0.87932	D	0	-6.9142	15.2333	0.73407	0.0:1.0:0.0:0.0	.	561;663;725	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	V	725	ENSP00000273390:A725V	ENSP00000273390:A725V	A	+	2	0	C3orf15	120952504	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.619000	0.61218	2.522000	0.85027	0.591000	0.81541	GCA		0.413	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		3	54	0	0	0	1	0	3	54					T	119469814	C	T	119469814	3	4	117	1	0	0	0	0	1	0	0	0	2209	710	25	2	2240	2	C3orf15	3	119469814	Missense_Mutation	SNP	C	TCGA-DJ-A3UY-01A-21D-A22D-08		119469814	78552616	1	2068											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	56	0	0	0	1	0	20	56					T	140453136	A	T	140453136	3	4	117	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3UY-01A-21D-A22D-08		140453136	18685527	2	2069											
TUBGCP4	27229	broad.mit.edu	37	15	43678506	43678506	+	Missense_Mutation	SNP	G	G	A	rs200238154		TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr15:43678506G>A	ENST00000260383.7	+	9	1246	c.992G>A	c.(991-993)cGc>cAc	p.R331H	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R331H|TUBGCP4_ENST00000399460.3_Missense_Mutation_p.R195H			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	331					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGGTGGATCGCATTCGCAGC	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		8210	0		0	False		,,,				2504	0					uc001zro.3																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(991-993)cGc>cAc		Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.		G	HIS/ARG	0,3856		0,0,1928	98	88	91		992	4.8	0.8	15		91	1,8265		0,1,4132	no	missense	TUBGCP4	NM_014444.2	29	0,1,6060	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	331/667	43678506	1,12121	1928	4133	6061	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43678506G>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.992G>A	15.37:g.43678506G>A	ENSP00000260383:p.Arg331His		Somatic				TUBGCP4_uc001zrn.3_Missense_Mutation_p.R331H|TUBGCP4_uc010bdh.3_Non-coding_Transcript	p.R331H	NM_014444	NP_055259	WXS	Illumina GAIIx	Phase_I	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	8	1232	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	331					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.992G>A		.	.	.	.	.	.	.	.	.	.	G	16.79	3.221640	0.58560	0.0	1.21E-4	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08896	3.04;3.04	5.74	4.82	0.62117	.	0.315193	0.40064	N	0.001183	T	0.07413	0.0187	N	0.22421	0.69	0.34262	D	0.680005	B;B	0.17038	0.02;0.016	B;B	0.10450	0.005;0.003	T	0.09818	-1.0657	10	0.48119	T	0.1	-2.4548	14.2769	0.66187	0.0714:0.0:0.9286:0.0	.	331;331	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	H	331;195	ENSP00000260383:R331H;ENSP00000382387:R195H	ENSP00000260383:R331H	R	+	2	0	TUBGCP4	41465798	1.000000	0.71417	0.763000	0.31416	0.978000	0.69477	6.547000	0.73892	1.571000	0.49722	0.561000	0.74099	CGC		0.368	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		23	78	0	0	0	1	0	23	78					A	43678506	G	A	43678506	3	1	117	1	0	0	0	0	1	0	0	0	16765	1087	38	1	1026	1	TUBGCP4	15	43678506	Missense_Mutation	SNP	G	TCGA-DJ-A3UY-01A-21D-A22D-08		43678506	58852886	3	2070											
FRMD5	84978	broad.mit.edu	37	15	44198149	44198149	+	Splice_Site	SNP	G	G	T			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr15:44198149G>T	ENST00000417257.1	-	6	604	c.428C>A	c.(427-429)gCg>gAg	p.A143E	FRMD5_ENST00000484674.1_Splice_Site_p.A54E|FRMD5_ENST00000402883.1_Splice_Site_p.A143E	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	143	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CCCAATCTCCGCTTTCAAAAG	0.418																																						uc001ztl.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e6-1		Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.							78	71	73					15																	44198149		2198	4298	6496	SO:0001630	splice_region_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44198149G>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.428-1C>A	15.37:g.44198149G>T			Somatic				FRMD5_uc001ztj.1_Splice_Site|FRMD5_uc001ztk.1_Splice_Site_p.A54_splice|FRMD5_uc001ztm.3_Splice_Site|FRMD5_uc001ztn.3_Splice_Site	p.A143_splice	NM_032892	NP_116281	WXS	Illumina GAIIx	Phase_I	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	6	605	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	143			FERM.		Q8NBG4	Splice_Site	SNP	ENST00000417257.1	37	c.428_splice	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153170	0.78114	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.79845	-1.31;-1.31;-1.31	4.91	4.91	0.64330	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89549	0.3798	10	0.87932	D	0	.	17.1906	0.86878	0.0:0.0:1.0:0.0	.	143;143	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	E	143;143;109	ENSP00000403067:A143E;ENSP00000384142:A143E;ENSP00000399684:A109E	ENSP00000384142:A143E	A	-	2	0	FRMD5	41985441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.147000	0.94646	2.723000	0.93209	0.655000	0.94253	GCG		0.418	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892	Missense_Mutation	3	36	0	0	0	1	0	3	36					T	44198149	G	T	44198149	5	4	117	1	0	0	0	0	0	0	1	0	6053	1101	38	4	1320	4	FRMD5	15	44198149	Splice_Site	SNP	G	TCGA-DJ-A3UY-01A-21D-A22D-08	519643	44198149	58333243	4	2071											
MYOM1	8736	broad.mit.edu	37	18	3067403	3067403	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3UY-01A-21D-A22D-08	TCGA-DJ-A3UY-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e37b8756-66b6-4914-a3f4-0c6670bfe247	f2bcc28c-91eb-4698-8590-8b4109e059da	g.chr18:3067403C>T	ENST00000356443.4	-	38	5248	c.4915G>A	c.(4915-4917)Gct>Act	p.A1639T	MYOM1_ENST00000400569.3_Missense_Mutation_p.A1639T|MYOM1_ENST00000261606.7_Missense_Mutation_p.A1543T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1639	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCGAGTCAGCGGTGCTCACG	0.587																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(4915-4917)Gct>Act		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							78	81	80					18																	3067403		2203	4300	6503	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3067403C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4915G>A	18.37:g.3067403C>T	ENSP00000348821:p.Ala1639Thr		Somatic				MYOM1_uc002klq.3_Missense_Mutation_p.A1543T	p.A1639T	NM_003803	NP_003794	WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			37	5249	-			1639			Ig-like C2-type 5.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.4915G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	4.890	0.165463	0.09339	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.41065	1.01;1.01;1.01	5.79	-2.98	0.05513	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.071270	0.07163	N	0.851018	T	0.19525	0.0469	N	0.17082	0.46	0.09310	N	1	B;B	0.16802	0.009;0.019	B;B	0.12837	0.005;0.008	T	0.20306	-1.0279	10	0.21014	T	0.42	.	0.9377	0.01348	0.3828:0.2518:0.1665:0.1989	.	1543;1639	P52179-2;P52179	.;MYOM1_HUMAN	T	1639;1639;1543	ENSP00000348821:A1639T;ENSP00000383413:A1639T;ENSP00000261606:A1543T	ENSP00000261606:A1543T	A	-	1	0	MYOM1	3057403	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.421000	0.07053	-0.263000	0.09378	-0.136000	0.14681	GCT		0.587	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	100	0	0	0	1	0	4	100					T	3067403	C	T	3067403	3	4	117	1	0	0	0	0	1	0	0	0	10091	768	27	1	146	1	MYOM1	18	3067403	Missense_Mutation	SNP	C	TCGA-DJ-A3UY-01A-21D-A22D-08		3067403	75009845	5	2072											
PXK	54899	broad.mit.edu	37	3	58395861	58395861	+	Silent	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:58395861G>A	ENST00000356151.2	+	16	1549	c.1440G>A	c.(1438-1440)gcG>gcA	p.A480A	PXK_ENST00000463280.1_Silent_p.A447A|PXK_ENST00000383716.3_Silent_p.A447A|PXK_ENST00000302779.5_Silent_p.A463A|PXK_ENST00000479241.1_Silent_p.A463A|PXK_ENST00000484288.1_Silent_p.A480A|PXK_ENST00000383715.4_Silent_p.A463A|PXK_ENST00000536660.1_Silent_p.A343A	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGCATTCAGCGAAGTACAGCA	0.433																																						uc003djz.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1438-1440)gcG>gcA		Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.							88	81	84					3																	58395861		2203	4300	6503	SO:0001819	synonymous_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58395861G>A	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1440G>A	3.37:g.58395861G>A			Somatic				PXK_uc003djx.1_Silent_p.A480A|PXK_uc003dka.1_Silent_p.A480A|PXK_uc003dkb.1_Silent_p.A397A|PXK_uc003dkc.1_Silent_p.A463A|PXK_uc011bfe.1_Silent_p.A447A|PXK_uc010hnj.1_Silent_p.A447A|PXK_uc003dkd.1_Silent_p.A343A|PXK_uc010hnk.1_Silent_p.A254A	p.A480A	NM_017771	NP_060241	WXS	Illumina GAIIx	Phase_I	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	15	1539	+			480			Protein kinase.			Silent	SNP	ENST00000356151.2	37	c.1440G>A	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	7.739	0.700803	0.15172	.	.	ENSG00000168297	ENST00000479134;ENST00000495557	.	.	.	5.9	-4.12	0.03916	.	.	.	.	.	T	0.51024	0.1650	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.51293	-0.8724	4	.	.	.	0.1151	8.2699	0.31838	0.3948:0.2533:0.3519:0.0	.	.	.	.	Q	235;52	.	.	R	+	2	0	PXK	58370901	0.006000	0.16342	0.223000	0.23860	0.945000	0.59286	0.012000	0.13287	-0.435000	0.07264	-0.376000	0.06991	CGA		0.433	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		33	41	0	0	0	1	0	33	41					A	58395861	G	A	58395861	2	1	118	1	0	0	0	0	0	0	0	1	12849	1045	37	1		1	PXK	3	58395861	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		58395861	139626569	1	2073											
MYLK	4638	broad.mit.edu	37	3	123345699	123345699	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:123345699C>T	ENST00000475616.1	-	28	5203	c.5204G>A	c.(5203-5205)cGg>cAg	p.R1735Q	MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360772.3_Missense_Mutation_p.R1684Q|MYLK_ENST00000346322.5_Missense_Mutation_p.R1666Q|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000359169.1_Missense_Mutation_p.R1684Q|MYLK_ENST00000354792.5_Missense_Mutation_p.R535Q|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1735Q|MYLK-AS1_ENST00000470449.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1735	Calmodulin-binding.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCTTCATCCGGTCCTTGGA	0.493																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5203-5205)cGg>cAg		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							196	144	162					3																	123345699		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345699C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5204G>A	3.37:g.123345699C>T	ENSP00000418335:p.Arg1735Gln		Somatic				MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Missense_Mutation_p.R170Q|MYLK_uc011bjv.2_Missense_Mutation_p.R535Q|MYLK_uc011bjw.2_Missense_Mutation_p.R1735Q|MYLK_uc003egp.3_Missense_Mutation_p.R1666Q|MYLK_uc003egq.3_Missense_Mutation_p.R1684Q|MYLK_uc003egr.3_Missense_Mutation_p.R1615Q|MYLK_uc003egs.3_Missense_Mutation_p.R1559Q	p.R1735Q	NM_053025	NP_444253	WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5486	-		Lung NSC(201;0.0496)	1735			Calmodulin-binding.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.5204G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663878	0.96745	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66280	-0.14;-0.2;-0.14;-0.19;0.05;-0.2	5.22	5.22	0.72569	Protein kinase-like domain (1);	.	.	.	.	T	0.75302	0.3831	L	0.47190	1.495	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	0.87578	0.998;0.998;0.979;0.998;0.997	T	0.76677	-0.2871	9	0.72032	D	0.01	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	1735;1615;1684;1666;1735	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	Q	1684;1735;1684;1666;535;1735	ENSP00000354004:R1684Q;ENSP00000353452:R1735Q;ENSP00000352088:R1684Q;ENSP00000320622:R1666Q;ENSP00000346846:R535Q;ENSP00000418335:R1735Q	ENSP00000320622:R1666Q	R	-	2	0	MYLK	124828389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.339000	0.79282	2.732000	0.93576	0.591000	0.81541	CGG		0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		13	105	0	0	0	1	0	13	105					T	123345699	C	T	123345699	3	4	118	1	0	0	0	0	1	0	0	0	10056	652	23	1	556	1	MYLK	3	123345699	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	64949838	123345699	74676731	2	2074											
MED12L	116931	broad.mit.edu	37	3	151127118	151127118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr3:151127118C>T	ENST00000474524.1	+	38	5841	c.5803C>T	c.(5803-5805)Cag>Tag	p.Q1935*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1935	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAAGCACAGGTACCCAC	0.507																																						uc003eyp.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5803-5805)Cag>Tag		Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.							56	56	56					3																	151127118		2203	4300	6503	SO:0001587	stop_gained	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151127118C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5803C>T	3.37:g.151127118C>T	ENSP00000417235:p.Gln1935*		Somatic				MED12L_uc011bnz.2_Intron	p.Q1935*	NM_053002	NP_443728	WXS	Illumina GAIIx	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		37	5932	+			1935			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	c.5803C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	46	12.925596	0.99707	.	.	ENSG00000144893	ENST00000474524	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.7654	17.4518	0.87594	0.0:1.0:0.0:0.0	.	.	.	.	X	1935	.	ENSP00000417235:Q1935X	Q	+	1	0	MED12L	152609808	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.712000	0.61888	2.713000	0.92767	0.655000	0.94253	CAG		0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	98	0	0	0	1	0	6	98					T	151127118	C	T	151127118	4	4	118	1	0	0	0	0	0	1	0	0	9429	479	17	2	5953	2	MED12L	3	151127118	Nonsense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08	27781419	151127118	46895312	3	2075											
GAK	2580	broad.mit.edu	37	4	890299	890299	+	Silent	SNP	T	T	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:890299T>C	ENST00000314167.4	-	7	800	c.690A>G	c.(688-690)gaA>gaG	p.E230E	GAK_ENST00000511163.1_Silent_p.E151E	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGTCTATGATTTCTGGTGTTC	0.453																																						uc003gbm.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(688-690)gaA>gaG		Homo sapiens cyclin G associated kinase (GAK), mRNA.							150	129	136					4																	890299		2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:890299T>C	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.690A>G	4.37:g.890299T>C			Somatic				GAK_uc003gbn.4_Silent_p.E151E|GAK_uc010ibk.1_Silent_p.E124E|GAK_uc003gbl.4_Silent_p.E94E	p.E230E	NM_005255	NP_005246	WXS	Illumina GAIIx	Phase_I	O14976	GAK_HUMAN		Colorectal(103;0.219)	6	889	-			230			Protein kinase.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.690A>G	CCDS3340.1																																																																																				0.453	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		11	59	0	0	0	1	0	11	59					C	890299	T	C	890299	2	2	118	1	0	0	0	0	0	0	0	1	6195	1838	64	3		3	GAK	4	890299	Silent	SNP	T	TCGA-DJ-A3V7-01A-11D-A23M-08		890299	190263977	4	2076											
TLR3	7098	broad.mit.edu	37	4	187000075	187000075	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr4:187000075G>C	ENST00000296795.3	+	3	627	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	175					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAATCTCCAAGAGCTTCTATT	0.313																																						uc003iyq.3																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(523-525)Gag>Cag		Homo sapiens toll-like receptor 3 (TLR3), mRNA.							41	47	45					4																	187000075		2202	4299	6501	SO:0001583	missense	7098				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187000075G>C	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.523G>C	4.37:g.187000075G>C	ENSP00000296795:p.Glu175Gln		Somatic				TLR3_uc011ckz.2_5'Flank	p.E175Q	NM_003265	NP_003256	WXS	Illumina GAIIx	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	624	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	175					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.523G>C	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616723	0.66672	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.59638	0.31;0.25	5.48	4.59	0.56863	.	0.370309	0.34156	N	0.004210	T	0.48768	0.1518	L	0.45137	1.4	0.80722	D	1	P	0.39282	0.666	B	0.33799	0.17	T	0.56811	-0.7917	10	0.56958	D	0.05	.	15.736	0.77842	0.0:0.1366:0.8634:0.0	.	175	O15455	TLR3_HUMAN	Q	175	ENSP00000296795:E175Q;ENSP00000423386:E175Q	ENSP00000296795:E175Q	E	+	1	0	TLR3	187237069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.201000	0.51059	2.573000	0.86826	0.650000	0.86243	GAG		0.313	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			23	30	0	0	0	1	0	23	30					C	187000075	G	C	187000075	3	2	118	1	0	0	0	0	1	0	0	0	15949	943	33	4	529	4	TLR3	4	187000075	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	186109776	187000075	4154201	5	2077											
DMXL1	1657	broad.mit.edu	37	5	118506611	118506611	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:118506611G>T	ENST00000311085.8	+	24	6205	c.6125G>T	c.(6124-6126)cGt>cTt	p.R2042L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R2042L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2042										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)		GTAGAACTTCGTACTTTATCT	0.358																																						uc010jcl.1																			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.(6124-6126)cGt>cTt		Homo sapiens Dmx-like 1 (DMXL1), mRNA.							59	62	61					5																	118506611		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118506611G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6125G>T	5.37:g.118506611G>T	ENSP00000309690:p.Arg2042Leu		Somatic				DMXL1_uc003ksd.2_Missense_Mutation_p.R2042L|DMXL1_uc021ycw.1_Missense_Mutation_p.R1869L	p.R2042L	NM_005509	NP_005500	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	6306	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2042						Missense_Mutation	SNP	ENST00000311085.8	37	c.6125G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413557	0.83449	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78126	-1.15;-1.15	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.967	D	0.89343	0.3655	10	0.66056	D	0.02	-15.5055	19.3932	0.94594	0.0:0.0:1.0:0.0	.	2042;2042	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2042	ENSP00000309690:R2042L;ENSP00000439479:R2042L	ENSP00000309690:R2042L	R	+	2	0	DMXL1	118534510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.577000	0.86979	0.557000	0.71058	CGT		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		43	46	0	0	0	1	0	43	46					T	118506611	G	T	118506611	3	4	118	1	0	0	0	0	1	0	0	0	4594	1145	40	4	6219	4	DMXL1	5	118506611	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		118506611	62408649	6	2078											
PCDHB6	56130	broad.mit.edu	37	5	140531054	140531054	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr5:140531054G>A	ENST00000231136.1	+	1	1216	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGAAGGCGCGCTGGACAG	0.483																																						uc003lir.3																			0		p.G405G(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1216-1218)Gcg>Acg		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							112	114	114					5																	140531054		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531054G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1216G>A	5.37:g.140531054G>A	ENSP00000231136:p.Ala406Thr		Somatic					p.A406T	NM_018939	NP_061762	WXS	Illumina GAIIx	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1216	+			406			Cadherin 4.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1216G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	2.570	-0.299858	0.05532	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.02682	4.2;4.2	4.59	-1.37	0.09056	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	L	0.41079	1.255	0.09310	N	1	B	0.25521	0.128	B	0.21917	0.037	T	0.36601	-0.9741	9	0.42905	T	0.14	.	11.1183	0.48273	0.0:0.4571:0.3088:0.2341	.	406	Q9Y5E3	PCDB6_HUMAN	T	270;406;191	ENSP00000438466:A270T;ENSP00000231136:A406T	ENSP00000231136:A406T	A	+	1	0	PCDHB6	140511238	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.879000	0.00716	-0.570000	0.06022	0.561000	0.74099	GCG		0.483	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		15	161	0	0	0	1	0	15	161					A	140531054	G	A	140531054	3	1	118	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1218	1	PCDHB6	5	140531054	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	22024443	140531054	40384206	7	2079											
TNRC18	84629	broad.mit.edu	37	7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:5401259delG	ENST00000430969.1	-	14	4975	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R1543fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692																																						uc003soi.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4627-4629)cgcfs		Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.				32,3150		10,12,1569						3.9	1.0			15	35,6719		7,21,3349	no	frameshift	TNRC18	NM_001080495.2		17,33,4918	A1A1,A1R,RR		0.5182,1.0057,0.6743				67,9869				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5401259delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4627delC	7.37:g.5401259delG	ENSP00000395538:p.Arg1543fs		Somatic					p.R1543fs	NM_001080495	NP_001073964	WXS	Illumina GAIIx	Phase_I	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	13	4976	-		Ovarian(82;0.142)	1543					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.4627delC	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5401259	G	-	5401259	7	5	118	1	0	1	0	1	0	0	0	0	16336	1116	39	0	4347	0	TNRC18	7	5401259	Frame_Shift_Del	DEL	G	TCGA-DJ-A3V7-01A-11D-A23M-08		5401259	153737404	8	2080											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		48	72	0	0	0	1	0	48	72					T	140453136	A	T	140453136	3	4	118	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3V7-01A-11D-A23M-08	135051877	140453136	18685527	9	2081											
HSD17B3	3293	broad.mit.edu	37	9	99017173	99017173	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr9:99017173A>G	ENST00000375263.3	-	3	301	c.254T>C	c.(253-255)cTa>cCa	p.L85P	HSD17B3_ENST00000375262.2_Missense_Mutation_p.L85P|RNU6-1160P_ENST00000384546.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	85					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				AATGGCCTCTAGTTTTTCCAG	0.512																																						uc004awa.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(253-255)cTa>cCa		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	NADH(DB00157)						123	91	102					9																	99017173		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99017173A>G		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.254T>C	9.37:g.99017173A>G	ENSP00000364412:p.Leu85Pro		Somatic				HSD17B3_uc010msc.1_Missense_Mutation_p.L85P	p.L85P	NM_000197	NP_000188	WXS	Illumina GAIIx	Phase_I	P37058	DHB3_HUMAN			2	302	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	85					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.254T>C	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065518	0.36470	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.94931	-3.56;-2.38	4.79	4.79	0.61399	NAD(P)-binding domain (1);	0.184069	0.38005	N	0.001842	D	0.98033	0.9352	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.974;0.995	D	0.98463	1.0597	10	0.72032	D	0.01	-17.9462	10.9088	0.47097	1.0:0.0:0.0:0.0	.	85;85	Q5U0Q6;P37058	.;DHB3_HUMAN	P	85	ENSP00000364412:L85P;ENSP00000364411:L85P	ENSP00000364411:L85P	L	-	2	0	HSD17B3	98056994	1.000000	0.71417	0.819000	0.32651	0.085000	0.17905	5.435000	0.66532	2.147000	0.66899	0.533000	0.62120	CTA		0.512	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		16	26	0	0	0	1	0	16	26					G	99017173	A	G	99017173	3	3	118	1	0	0	0	0	1	0	0	0	7385	420	15	3	714	3	HSD17B3	9	99017173	Missense_Mutation	SNP	A	TCGA-DJ-A3V7-01A-11D-A23M-08		99017173	42196258	10	2082											
CPT1A	1374	broad.mit.edu	37	11	68542876	68542876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr11:68542876G>A	ENST00000265641.5	-	13	1637	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q495*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	495					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TAGCCCAGCTGGAGGCTGTCA	0.483																																						uc001oog.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1483-1485)Cag>Tag		Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)						128	113	118					11																	68542876		2200	4294	6494	SO:0001587	stop_gained	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68542876G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1483C>T	11.37:g.68542876G>A	ENSP00000265641:p.Gln495*		Somatic				CPT1A_uc001oof.4_Nonsense_Mutation_p.Q495*	p.Q495*	NM_001876	NP_001867	WXS	Illumina GAIIx	Phase_I	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		12	1653	-	Esophageal squamous(3;3.28e-14)		495					Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	c.1483C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660375	0.88154	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	5.12	4.14	0.48551	.	0.252005	0.40469	N	0.001095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	12.999	0.58664	0.0:0.3499:0.6501:0.0	.	.	.	.	X	495	.	ENSP00000265641:Q495X	Q	-	1	0	CPT1A	68299452	0.948000	0.32251	0.989000	0.46669	0.362000	0.29581	2.300000	0.43620	2.550000	0.86006	0.478000	0.44815	CAG		0.483	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		51	84	0	0	0	1	0	51	84					A	68542876	G	A	68542876	4	1	118	1	0	0	0	0	0	1	0	0	3831	1357	47	2	906	2	CPT1A	11	68542876	Nonsense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		68542876	66463640	11	2083											
RB1	5925	broad.mit.edu	37	13	49039407	49039407	+	Missense_Mutation	SNP	C	C	T	rs187912365	byFrequency	TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr13:49039407C>T	ENST00000267163.4	+	23	2530	c.2392C>T	c.(2392-2394)Cgg>Tgg	p.R798W		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	798	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R798fs*17(1)|p.R798W(1)|p.L797fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCACCCTTACGGATTCCTGG	0.408		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C|||	4	0.000798722	0	0.0043	5008	,	,		14619	0		0.001	False		,,,				2504	0					uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		29	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(15)|p.?(11)|p.R798fs*17(2)|p.R798W(2)|p.L797fs*1(2)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|ovary(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2392-2394)Cgg>Tgg		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	128	130	129		2392	4.1	1.0	13		129	0,8600		0,0,4300	yes	missense	RB1	NM_000321.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	798/929	49039407	1,13005	2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039407C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2392C>T	13.37:g.49039407C>T	ENSP00000267163:p.Arg798Trp	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.R798W	NM_000321	NP_000312	WXS	Illumina GAIIx	Phase_I	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2558	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	798			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2392C>T	CCDS31973.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	21.0	4.075938	0.76415	2.27E-4	0.0	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.85955	-2.05	5.87	4.1	0.47936	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	L	0.54323	1.7	0.52501	D	0.999954	D	0.89917	1.0	D	0.91635	0.999	D	0.88501	0.3082	10	0.87932	D	0	.	13.9886	0.64350	0.3981:0.6019:0.0:0.0	.	798	P06400	RB_HUMAN	W	777;798	ENSP00000267163:R798W	ENSP00000267163:R798W	R	+	1	2	RB1	47937408	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.350000	0.59392	0.780000	0.33566	0.591000	0.81541	CGG		0.408	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			24	161	0	0	0	1	0	24	161					T	49039407	C	T	49039407	3	4	118	1	0	0	0	0	1	0	0	0	13098	527	19	1	2482	1	RB1	13	49039407	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		49039407	66130471	12	2084											
ZG16B	124220	broad.mit.edu	37	16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr16:2880459C>T	ENST00000382280.3	+	2	204	c.125C>T	c.(124-126)aCg>aTg	p.T42M	ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	42	Poly-Leu.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662																																						uc002cru.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(124-126)aCg>aTg		Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.							20	25	23					16																	2880459		2073	4213	6286	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2880459C>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"jacalin-like lectin domain containing 2"		"zymogen granule protein 16 homolog B (rat)"			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.125C>T	16.37:g.2880459C>T	ENSP00000371715:p.Thr42Met		Somatic					p.T42M	NM_145252	NP_660295	WXS	Illumina GAIIx	Phase_I	Q96DA0	ZG16B_HUMAN			1	201	+			42			Poly-Leu.		A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.125C>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	c	14.77	2.634807	0.47049	.	.	ENSG00000162078	ENST00000382280	T	0.35605	1.3	3.11	2.15	0.27550	.	.	.	.	.	T	0.45617	0.1351	L	0.43923	1.385	0.21473	N	0.999671	D	0.89917	1.0	D	0.71870	0.975	T	0.15896	-1.0421	9	0.56958	D	0.05	-25.0543	5.9001	0.18962	0.0:0.856:0.0:0.144	.	42	Q96DA0	ZG16B_HUMAN	M	42	ENSP00000371715:T42M	ENSP00000371715:T42M	T	+	2	0	ZG16B	2820460	0.000000	0.05858	0.781000	0.31783	0.089000	0.18198	0.312000	0.19397	0.880000	0.35969	0.556000	0.70494	ACG		0.662	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		7	5	0	0	0	1	0	7	5					T	2880459	C	T	2880459	3	4	118	1	0	0	0	0	1	0	0	0	17669	536	19	1	131	1	ZG16B	16	2880459	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		2880459	87474294	13	2085											
TRIM47	91107	broad.mit.edu	37	17	73870808	73870808	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr17:73870808G>A	ENST00000254816.2	-	6	1699	c.1673C>T	c.(1672-1674)gCc>gTc	p.A558V	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.A320V	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	558	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGCCAAGGCACGGTCAGC	0.667																																						uc002jpw.3																			0		p.R557C(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1672-1674)gCc>gTc		Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.							35	42	40					17																	73870808		2203	4300	6503	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870808G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1673C>T	17.37:g.73870808G>A	ENSP00000254816:p.Ala558Val		Somatic				TRIM47_uc002jpv.3_Missense_Mutation_p.A320V	p.A558V	NM_033452	NP_258411	WXS	Illumina GAIIx	Phase_I	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	1700	-			558			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1673C>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647054	0.29246	.	.	ENSG00000132481	ENST00000254816	T	0.68903	-0.36	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000009	T	0.36771	0.0979	N	0.01729	-0.75	0.20873	N	0.999835	B	0.25850	0.136	B	0.27608	0.081	T	0.13791	-1.0496	10	0.02654	T	1	.	14.3104	0.66413	0.0:0.1484:0.8516:0.0	.	558	Q96LD4	TRI47_HUMAN	V	558	ENSP00000254816:A558V	ENSP00000254816:A558V	A	-	2	0	TRIM47	71382403	0.256000	0.24012	0.996000	0.52242	0.092000	0.18411	3.069000	0.50026	2.426000	0.82243	0.561000	0.74099	GCC		0.667	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			33	56	0	0	0	1	0	33	56					A	73870808	G	A	73870808	3	1	118	1	0	0	0	0	1	0	0	0	16519	1203	42	2	247	2	TRIM47	17	73870808	Missense_Mutation	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08		73870808	7324402	14	2086											
PEG3	5178	broad.mit.edu	37	19	57326078	57326078	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr19:57326078C>A	ENST00000326441.9	-	10	4095	c.3732G>T	c.(3730-3732)atG>atT	p.M1244I	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1244I|PEG3_ENST00000593695.1_Missense_Mutation_p.M1118I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M1120I|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1244					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAAGTCTCATATGCTCAT	0.498																																						uc002qnu.2																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3730-3732)atG>atT		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							51	46	48					19																	57326078		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326078C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3732G>T	19.37:g.57326078C>A	ENSP00000326581:p.Met1244Ile		Somatic				PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M1215I|PEG3_uc002qnv.2_Missense_Mutation_p.M1244I|PEG3_uc002qnw.2_Missense_Mutation_p.M1120I|PEG3_uc002qnx.2_Missense_Mutation_p.M1118I|PEG3_uc010etr.2_Missense_Mutation_p.M1244I	p.M1244I	NM_001146186	NP_001139657	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	4083	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1244					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3732G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694189	0.48202	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.28255	1.62;1.62	4.06	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.358389	0.24388	N	0.038942	T	0.32010	0.0815	L	0.46885	1.475	.	.	.	B;P;P	0.49307	0.149;0.856;0.922	B;P;P	0.46718	0.103;0.525;0.525	T	0.51639	-0.8680	9	0.56958	D	0.05	-6.8134	12.3223	0.54991	0.0:0.6501:0.3499:0.0	.	1120;1244;1179	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	1244	ENSP00000326581:M1244I;ENSP00000403051:M1244I	ENSP00000326581:M1244I	M	-	3	0	ZIM2	62017890	0.000000	0.05858	0.002000	0.10522	0.887000	0.51463	0.755000	0.26405	0.646000	0.30693	0.655000	0.94253	ATG		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			11	81	0	0	0	1	0	11	81					A	57326078	C	A	57326078	3	1	118	1	0	0	0	0	1	0	0	0	11720	826	29	4	1038	4	PEG3	19	57326078	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		57326078	1802905	15	2087											
GCFC1	94104	broad.mit.edu	37	21	34123457	34123457	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chr21:34123457C>T	ENST00000331923.4	-	9	1769	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H	PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527H	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	527	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				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)										TGCAATGCGACGTTTTGCATG	0.463																																						uc002yqn.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						c.(1579-1581)cGt>cAt		Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.							112	94	100					21																	34123457		2203	4300	6503	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34123457C>T	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"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		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1580G>A	21.37:g.34123457C>T	ENSP00000328992:p.Arg527His		Somatic				GCFC1_uc002yql.3_Missense_Mutation_p.R36H|GCFC1_uc002yqm.3_Missense_Mutation_p.R21H|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Missense_Mutation_p.R527H	p.R527H	NM_016631	NP_057715	WXS	Illumina GAIIx	Phase_I	Q9Y5B6	GCFC1_HUMAN			8	1770	-			527					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1580G>A	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629884	0.87660	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.37058	1.65;1.22	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72338	0.977;0.948;0.94	T	0.61594	-0.7031	10	0.59425	D	0.04	-11.8073	18.6815	0.91547	0.0:1.0:0.0:0.0	.	527;527;36	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	H	527	ENSP00000328992:R527H;ENSP00000290178:R527H	ENSP00000290178:R527H	R	-	2	0	GCFC1	33045328	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	3.473000	0.53122	2.517000	0.84864	0.557000	0.71058	CGT		0.463	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		19	67	0	0	0	1	0	19	67					T	34123457	C	T	34123457	3	4	118	1	0	0	0	0	1	0	0	0	6289	536	19	1	1331	1	GCFC1	21	34123457	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		34123457	14006438	16	2088											
F9	2158	broad.mit.edu	37	X	138633271	138633271	+	Missense_Mutation	SNP	C	C	A	rs137852237		TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:138633271C>A	ENST00000218099.2	+	6	578	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	F9_ENST00000394090.2_Missense_Mutation_p.R153S	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	191		Cleavage; by factor XIa.	R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.). {ECO:0000269|PubMed:2775660}.|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.). {ECO:0000269|PubMed:6603618, ECO:0000269|PubMed:8076946}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TAAGCTCACCCGTGCTGAGAC	0.358																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940536|CM940537	F9	M	rs137852237	c.(571-573)Cgt>Agt		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						109	97	101					X																	138633271		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138633271C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.571C>A	X.37:g.138633271C>A	ENSP00000218099:p.Arg191Ser		Somatic				F9_uc004fat.1_Missense_Mutation_p.R153S	p.R191S	NM_000133	NP_000124	WXS	Illumina GAIIx	Phase_I	P00740	FA9_HUMAN			5	600	+	Acute lymphoblastic leukemia(192;0.000127)		191		R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.).|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.).		Cleavage; by factor XIa.	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.571C>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	9.875	1.199980	0.22121	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93426	-3.22;-3.22	4.94	4.04	0.47022	.	0.411574	0.25250	N	0.032021	D	0.93035	0.7783	L	0.39397	1.21	0.36570	D	0.872959	D;P	0.64830	0.994;0.73	P;B	0.62491	0.903;0.107	D	0.91321	0.5082	10	0.22706	T	0.39	.	10.5255	0.44945	0.3505:0.6495:0.0:0.0	.	153;191	Q5FBE1;P00740	.;FA9_HUMAN	S	191;153	ENSP00000218099:R191S;ENSP00000377650:R153S	ENSP00000218099:R191S	R	+	1	0	F9	138460937	0.991000	0.36638	0.198000	0.23420	0.158000	0.22134	2.008000	0.40893	0.823000	0.34589	0.529000	0.55759	CGT		0.358	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			12	126	0	0	0	1	0	12	126					A	138633271	C	A	138633271	3	1	118	1	0	0	0	0	1	0	0	0	5351	652	23	4	593	4	F9	23	138633271	Missense_Mutation	SNP	C	TCGA-DJ-A3V7-01A-11D-A23M-08		138633271	16637289	17	2089											
PNMA3	29944	broad.mit.edu	37	X	152225805	152225805	+	Silent	SNP	G	G	A			TCGA-DJ-A3V7-01A-11D-A23M-08	TCGA-DJ-A3V7-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c210339e-a61d-42e4-9dba-b78b2dd6a036	d3920478-36c0-454d-8847-4652bdd83241	g.chrX:152225805G>A	ENST00000370264.4	+	1	419	c.393G>A	c.(391-393)tcG>tcA	p.S131S	PNMA3_ENST00000447306.1_Silent_p.S131S|PNMA3_ENST00000370265.4_Silent_p.S131S			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	131					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ccaattgttcggctccaagag	0.532													G|||	1	0.000264901	0	0	3775	,	,		13137	0		0	False		,,,				2504	0.001					uc004fhc.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(391-393)tcG>tcA		Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.							41	42	42					X																	152225805		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225805G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.393G>A	X.37:g.152225805G>A			Somatic				PNMA3_uc022cho.1_Silent_p.S131S|PNMA3_uc004fhd.3_5'Flank	p.S131S	NM_013364	NP_037496	WXS	Illumina GAIIx	Phase_I	Q9UL41	PNMA3_HUMAN			1	729	+	Acute lymphoblastic leukemia(192;6.56e-05)		131					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.393G>A	CCDS35435.2																																																																																				0.532	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		20	73	0	0	0	1	0	20	73					A	152225805	G	A	152225805	2	1	118	1	0	0	0	0	0	0	0	1	12155	1103	39	1		1	PNMA3	23	152225805	Silent	SNP	G	TCGA-DJ-A3V7-01A-11D-A23M-08	13592534	152225805	3044755	18	2090											
TTN	7273	broad.mit.edu	37	2	179659202	179659202	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr2:179659202G>T	ENST00000591111.1	-	8	1546	c.1322C>A	c.(1321-1323)cCa>cAa	p.P441Q	TTN_ENST00000360870.5_Missense_Mutation_p.P441Q|TTN_ENST00000342175.6_Missense_Mutation_p.P441Q|TTN_ENST00000589042.1_Missense_Mutation_p.P441Q|TTN_ENST00000342992.6_Missense_Mutation_p.P441Q|TTN_ENST00000359218.5_Missense_Mutation_p.P441Q|TTN_ENST00000460472.2_Missense_Mutation_p.P441Q			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			GCTGATCACTGGTTCTCTCAC	0.517																																						uc021vsy.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.(1321-1323)cCa>cAa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							177	157	164					2																	179659202		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659202G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1322C>A	2.37:g.179659202G>T	ENSP00000465570:p.Pro441Gln		Somatic				TTN_uc021vsz.1_Missense_Mutation_p.P441Q|TTN_uc021vta.1_Missense_Mutation_p.P441Q|TTN_uc021vtb.1_Missense_Mutation_p.P441Q|TTN_uc002unb.2_Missense_Mutation_p.P441Q|TTN_uc010frg.1_Missense_Mutation_p.P115Q	p.P441Q	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	1547	-			441					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.1322C>A		.	.	.	.	.	.	.	.	.	.	G	15.81	2.942478	0.53079	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64148	0.2572	L	0.27053	0.805	0.36697	D	0.879875	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.70135	-0.4955	9	0.87932	D	0	.	19.8296	0.96630	0.0:0.0:1.0:0.0	.	441;441;441;441;441	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	441;441;441;441;441;441;37	ENSP00000343764:P441Q;ENSP00000434586:P441Q;ENSP00000340554:P441Q;ENSP00000352154:P441Q;ENSP00000354117:P441Q;ENSP00000405517:P37Q	ENSP00000340554:P441Q	P	-	2	0	TTN	179367447	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.569000	0.82380	2.780000	0.95670	0.655000	0.94253	CCA		0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	224	0	0	0	1	0	22	224					T	179659202	G	T	179659202	3	4	119	1	0	0	0	0	1	0	0	0	16732	1348	47	4	110086	4	TTN	2	179659202	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		179659202	63540171	1	2091											
SEMA3B	7869	broad.mit.edu	37	3	50311051	50311051	+	RNA	SNP	A	A	T			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr3:50311051A>T	ENST00000418948.1	+	0	1130							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCGGCGTCGAGGGCGACACC	0.711											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cyu.3																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6						c.(892-894)gAg>gTg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.							42	49	47					3																	50311051		2122	4228	6350			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311051A>T	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311051A>T			Somatic	OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	SEMA3B_uc003cyt.3_Missense_Mutation_p.E298V|SEMA3B_uc003cyv.3_Missense_Mutation_p.E186V|SEMA3B_uc003cyw.3_5'UTR|SEMA3B_uc010hli.3_Missense_Mutation_p.E186V|SEMA3B_uc003cyx.3_Missense_Mutation_p.E186V|SEMA3B_uc003cyy.3_5'UTR|SEMA3B_uc011bdo.2_5'UTR	p.E298V	NM_004636	NP_004627	WXS	Illumina GAIIx	Phase_I	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	9	1135	+			299			Sema.		Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Missense_Mutation	SNP	ENST00000418948.1	37	c.893A>T		.	.	.	.	.	.	.	.	.	.	A	13.23	2.175911	0.38413	.	.	ENSG00000012171	ENST00000316347;ENST00000414456	.	.	.	4.97	3.82	0.43975	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.099352	0.64402	D	0.000002	T	0.63885	0.2549	.	.	.	.	.	.	D;D;P	0.63880	0.993;0.993;0.929	P;P;P	0.59221	0.854;0.854;0.794	T	0.74627	-0.3602	7	0.87932	D	0	.	8.6606	0.34091	0.9094:0.0:0.0906:0.0	.	299;298;299	Q13214-2;F5H2H7;Q13214	.;.;SEM3B_HUMAN	V	298	.	ENSP00000446262:E298V	E	+	2	0	SEMA3B	50286055	1.000000	0.71417	0.623000	0.29173	0.371000	0.29859	7.494000	0.81503	0.936000	0.37367	0.533000	0.62120	GAG		0.711	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		22	69	0	0	0	1	0	22	69					T	50311051	A	T	50311051	1	4	119	0	1	0	0	0	0	0	0	0	14025	304	11	5		5	SEMA3B	3	50311051	RNA	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08		50311051	147711379	2	2092											
PDCL2	132954	broad.mit.edu	37	4	56428581	56428581	+	Silent	SNP	G	G	T	rs267600191		TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr4:56428581G>T	ENST00000295645.4	-	5	663	c.561C>A	c.(559-561)ctC>ctA	p.L187L		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	187	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			CTTCCAGCTTGAGATTTATCC	0.323																																						uc003hbb.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7						c.(559-561)ctC>ctA		Homo sapiens phosducin-like 2 (PDCL2), mRNA.							66	64	65					4																	56428581		1815	4076	5891	SO:0001819	synonymous_variant	132954							g.chr4:56428581G>T	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.561C>A	4.37:g.56428581G>T			Somatic					p.L187L	NM_152401	NP_689614	WXS	Illumina GAIIx	Phase_I	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		4	664	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		187					A8MWA2|B9ZVQ9	Silent	SNP	ENST00000295645.4	37	c.561C>A	CCDS47059.1																																																																																				0.323	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		16	24	0	0	0	1	0	16	24					T	56428581	G	T	56428581	2	4	119	1	0	0	0	0	0	0	0	1	11627	1277	45	4		4	PDCL2	4	56428581	Silent	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		56428581	134725695	3	2093											
MAP1B	4131	broad.mit.edu	37	5	71492992	71492992	+	Silent	SNP	C	C	T	rs79516161	byFrequency	TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr5:71492992C>T	ENST00000296755.7	+	5	4108	c.3810C>T	c.(3808-3810)acC>acT	p.T1270T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1270					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TAGAAAAGACCCCCCTGGGTG	0.522																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3808-3810)acC>acT		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							70	70	70					5																	71492992		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492992C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3810C>T	5.37:g.71492992C>T			Somatic				MAP1B_uc010iyw.1_Silent_p.T1287T|MAP1B_uc010iyx.1_Silent_p.T1144T|MAP1B_uc010iyy.1_Silent_p.T1144T	p.T1270T	NM_005909	NP_005900	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	4051	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1270					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3810C>T	CCDS4012.1																																																																																				0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		44	88	0	0	0	1	0	44	88					T	71492992	C	T	71492992	2	4	119	1	0	0	0	0	0	0	0	1	9228	610	22	2		2	MAP1B	5	71492992	Silent	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		71492992	109422268	4	2094											
TAX1BP1	8887	broad.mit.edu	37	7	27856612	27856612	+	Silent	SNP	A	A	T			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr7:27856612A>T	ENST00000396319.2	+	15	2128	c.2040A>T	c.(2038-2040)cgA>cgT	p.R680R	TAX1BP1_ENST00000433216.2_Silent_p.R481R|TAX1BP1_ENST00000265393.6_Silent_p.R638R|TAX1BP1_ENST00000543117.1_Silent_p.R638R|TAX1BP1_ENST00000409980.1_Silent_p.R704R	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	680					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGCCTGCTCGAAACTTTAGTC	0.448																																						uc003szl.3																			0		p.R680Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2038-2040)cgA>cgT		Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.							90	89	90					7																	27856612		2203	4300	6503	SO:0001819	synonymous_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856612A>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2040A>T	7.37:g.27856612A>T			Somatic				TAX1BP1_uc011jzo.2_Silent_p.R638R|TAX1BP1_uc003szk.3_Silent_p.R638R|TAX1BP1_uc011jzp.2_Silent_p.R481R	p.R680R	NM_006024	NP_006015	WXS	Illumina GAIIx	Phase_I	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		14	2222	+			680					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	c.2040A>T	CCDS5415.1																																																																																				0.448	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		17	116	0	0	0	1	0	17	116					T	27856612	A	T	27856612	2	4	119	1	0	0	0	0	0	0	0	1	15591	233	9	5		5	TAX1BP1	7	27856612	Silent	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08		27856612	131282051	5	2095											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	79	0	0	0	1	0	34	79					T	140453136	A	T	140453136	3	4	119	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VA-01A-11D-A23M-08	112596524	140453136	18685527	6	2096											
PPP3R2	116443	broad.mit.edu	37	9	104356700	104356700	+	Intron	SNP	G	G	C			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr9:104356700G>C	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.L171L	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTCATACGATGAGGACCAGCT	0.463																																						uc004bbr.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(511-513)ctC>ctG		Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	Cyclosporine(DB00091)						108	92	97					9																	104356700		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356700G>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15058C>G	9.37:g.104356700G>C			Somatic				GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	p.L171L	NM_147180	NP_671709	WXS	Illumina GAIIx	Phase_I	Q96LZ3	CANB2_HUMAN			0	584	-		Acute lymphoblastic leukemia(62;0.0527)	168					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.513C>G	CCDS6758.1																																																																																				0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			9	110	0	0	0	1	0	9	110					C	104356700	G	C	104356700	1	2	119	0	1	0	0	0	0	0	0	0	12401	1277	45	4		4	PPP3R2	9	104356700	Intron	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		104356700	36856731	7	2097											
TACC2	10579	broad.mit.edu	37	10	123845778	123845778	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr10:123845778G>T	ENST00000369005.1	+	4	4103	c.3763G>T	c.(3763-3765)Gct>Tct	p.A1255S	TACC2_ENST00000334433.3_Missense_Mutation_p.A1255S|TACC2_ENST00000453444.2_Missense_Mutation_p.A1255S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1255S|TACC2_ENST00000515273.1_Missense_Mutation_p.A1255S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1255					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGAGTGAAAGCTGTTTCCTC	0.592																																						uc001lfv.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(3763-3765)Gct>Tct		Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.							81	88	86					10																	123845778		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845778G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3763G>T	10.37:g.123845778G>T	ENSP00000358001:p.Ala1255Ser		Somatic				TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A1255S|TACC2_uc010qtv.2_Missense_Mutation_p.A1255S	p.A1255S	NM_206862	NP_996744	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			3	4123	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1255					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.3763G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023776	0.54683	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.83;3.76;3.78;3.83;3.76	5.12	-0.838	0.10762	.	.	.	.	.	T	0.03178	0.0093	L	0.27053	0.805	0.09310	N	1	P;P;P	0.37330	0.59;0.59;0.59	B;B;B	0.33196	0.159;0.159;0.159	T	0.41342	-0.9514	9	0.56958	D	0.05	-3.0907	4.8	0.13292	0.3932:0.0:0.4603:0.1464	.	1255;1255;1255	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	S	1255;1255;1255;1255;1255;1245	ENSP00000358001:A1255S;ENSP00000424467:A1255S;ENSP00000427618:A1255S;ENSP00000334280:A1255S;ENSP00000395048:A1255S	ENSP00000334280:A1255S	A	+	1	0	TACC2	123835768	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.333000	0.07894	-0.067000	0.12976	0.549000	0.68633	GCT		0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			46	129	0	0	0	1	0	46	129					T	123845778	G	T	123845778	3	4	119	1	0	0	0	0	1	0	0	0	15499	971	34	4	3773	4	TACC2	10	123845778	Missense_Mutation	SNP	G	TCGA-DJ-A3VA-01A-11D-A23M-08		123845778	11688969	8	2098											
TMEM5	10329	broad.mit.edu	37	12	64173875	64173876	+	Frame_Shift_Del	DEL	GG	GG	-	rs397514696		TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr12:64173875_64173876delGG	ENST00000261234.6	+	1	293_294	c.135_136delGG	c.(133-138)aaggggfs	p.G46fs	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'Flank	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	46						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		gccTCAGGAAGGGGGCGGCCCC	0.743																																						uc001srq.1																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(133-138)aaggggfs		Homo sapiens transmembrane protein 5 (TMEM5), mRNA.																																				SO:0001589	frameshift_variant	10329					integral to plasma membrane		g.chr12:64173875_64173876delGG	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.135_136delGG	12.37:g.64173877_64173878delGG	ENSP00000261234:p.Gly46fs		Somatic				TMEM5_uc001srs.1_5'Flank	p.K45fs	NM_014254	NP_055069	WXS	Illumina GAIIx	Phase_I	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	0	239_240	+		Myeloproliferative disorder(1001;0.0255)	45					A8K017|Q6PKD6	Frame_Shift_Del	DEL	ENST00000261234.6	37	c.135_136delGG	CCDS8966.1																																																																																				0.743	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		3	6						3	6	---	---	---	---	-	64173876	GG	-	64173875	7	5	119	1	0	1	0	1	0	0	0	0	16171	991	35	0	137	0	TMEM5	12	64173875	Frame_Shift_Del	DEL	GG	TCGA-DJ-A3VA-01A-11D-A23M-08		64173875	69678020	9	2099											
NUFIP1	26747	broad.mit.edu	37	13	45517759	45517759	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr13:45517759C>G	ENST00000379161.4	-	9	1235	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	397					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GCACTGCTATCAAGAACCTGG	0.358																																						uc001uzp.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(1189-1191)Gat>Cat		Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.							85	88	87					13																	45517759		2203	4300	6503	SO:0001583	missense	26747				RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding	g.chr13:45517759C>G	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1189G>C	13.37:g.45517759C>G	ENSP00000368459:p.Asp397His		Somatic					p.D397H	NM_012345	NP_036477	WXS	Illumina GAIIx	Phase_I	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	8	1231	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	397					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1189G>C	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	C	8.392	0.840060	0.16891	.	.	ENSG00000083635	ENST00000379161	T	0.42900	0.96	5.97	5.13	0.70059	.	0.719091	0.13916	N	0.353901	T	0.17195	0.0413	N	0.00707	-1.245	0.22521	N	0.999029	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	10	0.44086	T	0.13	.	13.1494	0.59480	0.0:0.1672:0.8328:0.0	.	397	Q9UHK0	NUFP1_HUMAN	H	397	ENSP00000368459:D397H	ENSP00000368459:D397H	D	-	1	0	NUFIP1	44415759	1.000000	0.71417	0.972000	0.41901	0.554000	0.35429	3.067000	0.50010	1.549000	0.49425	-0.356000	0.07607	GAT		0.358	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		7	154	0	0	0	1	0	7	154					G	45517759	C	G	45517759	3	3	119	1	0	0	0	0	1	0	0	0	10748	826	29	4	306	4	NUFIP1	13	45517759	Missense_Mutation	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		45517759	69652119	10	2100											
WDR88	126248	broad.mit.edu	37	19	33666304	33666304	+	Silent	SNP	C	C	T			TCGA-DJ-A3VA-01A-11D-A23M-08	TCGA-DJ-A3VA-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96d7b35-5f53-48ae-a238-77432fc9aee6	54f198a2-b581-4194-bb9d-a1f2bfca0823	g.chr19:33666304C>T	ENST00000355868.3	+	11	1321	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	AC008738.2_ENST00000577275.1_RNA|WDR88_ENST00000361680.2_3'UTR|CTD-2540B15.10_ENST00000590117.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	415								p.C415C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CATGTCAGTGCGAAAGATGTG	0.493																																						uc002nui.3																			1	Substitution - coding silent(1)	p.C415C(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1243-1245)tgC>tgT		Homo sapiens WD repeat domain 88 (WDR88), mRNA.							148	144	145					19																	33666304		2203	4300	6503	SO:0001819	synonymous_variant	126248							g.chr19:33666304C>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1245C>T	19.37:g.33666304C>T			Somatic				TRNA_Thr_uc021usc.1_5'Flank	p.C415C	NM_173479	NP_775750	WXS	Illumina GAIIx	Phase_I	Q6ZMY6	WDR88_HUMAN			10	1323	+	Esophageal squamous(110;0.137)		415					Q8NEF8	Silent	SNP	ENST00000355868.3	37	c.1245C>T	CCDS12429.1																																																																																				0.493	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		65	138	0	0	0	1	0	65	138					T	33666304	C	T	33666304	2	4	119	1	0	0	0	0	0	0	0	1	17332	776	27	1		1	WDR88	19	33666304	Silent	SNP	C	TCGA-DJ-A3VA-01A-11D-A23M-08		33666304	25462679	11	2101											
TNNI3K	100526835	broad.mit.edu	37	1	74715180	74715180	+	Missense_Mutation	SNP	C	C	T	rs79045456		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr1:74715180C>T	ENST00000370899.3	+	5	527	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63C|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177C|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R164C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164C|FPGT-TNNI3K_ENST00000533006.1_3'UTR	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTTAAATTACCGCACTGAAAA	0.333																																						uc001dge.2																			0											c.(490-492)Cgc>Tgc		Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.							148	152	150					1																	74715180		2202	4300	6502	SO:0001583	missense	100526835					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74715180C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.490C>T	1.37:g.74715180C>T	ENSP00000359936:p.Arg164Cys		Somatic				FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.R164C|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.R164C|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R63C	p.R164C	NM_001112808	NP_001106279	WXS	Illumina GAIIx	Phase_I	Q59H18	TNI3K_HUMAN			4	557	+			63						Missense_Mutation	SNP	ENST00000370899.3	37	c.490C>T		.	.	.	.	.	.	.	.	.	.	C	29.1	4.976370	0.92982	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.054702	0.64402	D	0.000001	T	0.25791	0.0628	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.925;0.984;0.931;0.967	T	0.01639	-1.1306	10	0.66056	D	0.02	.	19.7289	0.96175	0.0:1.0:0.0:0.0	.	63;164;164;164	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	164;164;164;164;63	ENSP00000359936:R164C;ENSP00000359932:R164C;ENSP00000450895:R164C;ENSP00000359928:R164C;ENSP00000322251:R63C	ENSP00000322251:R63C	R	+	1	0	RP11-653A5.2;AC093158.1	74487768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.811000	0.55620	2.770000	0.95276	0.655000	0.94253	CGC		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			7	50	0	0	0	1	0	7	50					T	74715180	C	T	74715180	3	4	120	1	0	0	0	0	1	0	0	0	16326	652	23	1	552	1	TNNI3K	1	74715180	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		74715180	174535441	1	2102											
SLC40A1	30061	broad.mit.edu	37	2	190439928	190439928	+	Missense_Mutation	SNP	G	G	C	rs28939076		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr2:190439928G>C	ENST00000261024.2	-	3	656	c.230C>G	c.(229-231)gCc>gGc	p.A77G	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	77			A -> D (in HFE4). {ECO:0000269|PubMed:10747949, ECO:0000269|PubMed:11518736}.		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)			ACCGATGATGGCTCCCAGGAC	0.493																																						uc002uqp.4																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	GRCh37	CM014599	SLC40A1	M	rs28939076	c.(229-231)gCc>gGc		Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.							219	221	220					2																	190439928		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.chr2:190439928G>C	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.230C>G	2.37:g.190439928G>C	ENSP00000261024:p.Ala77Gly		Somatic				SLC40A1_uc002uqq.2_Missense_Mutation_p.A77G	p.A77G	NM_014585	NP_055400	WXS	Illumina GAIIx	Phase_I	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		2	581	-			77		A -> D (in HFE4).			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.230C>G	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113391	0.94339	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.81078	-1.44;-1.45	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74023	0.965;0.982	D	0.86484	0.1793	10	0.34782	T	0.22	-18.9738	18.5253	0.90969	0.0:0.0:1.0:0.0	.	77;77	A8K7Y1;Q9NP59	.;S40A1_HUMAN	G	77	ENSP00000261024:A77G;ENSP00000390005:A77G	ENSP00000261024:A77G	A	-	2	0	SLC40A1	190148173	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.691000	0.91804	0.650000	0.86243	GCC		0.493	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			154	304	0	0	0	1	0	154	304					C	190439928	G	C	190439928	3	2	120	1	0	0	0	0	1	0	0	0	14628	1203	42	4	1509	4	SLC40A1	2	190439928	Missense_Mutation	SNP	G	TCGA-DJ-A3VB-01A-11D-A23M-08		190439928	52759445	2	2103											
LRPAP1	4043	broad.mit.edu	37	4	3516526	3516526	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr4:3516526C>T	ENST00000500728.2	-	7	1110	c.964G>A	c.(964-966)Gag>Aag	p.E322K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	322	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGTGCTTCTCGCGGCTGCGG	0.662																																						uc003ghh.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(964-966)Gag>Aag		Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.							66	61	63					4																	3516526		2203	4298	6501	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3516526C>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.964G>A	4.37:g.3516526C>T	ENSP00000421922:p.Glu322Lys		Somatic					p.E322K	NM_002337	NP_002328	WXS	Illumina GAIIx	Phase_I	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	6	1049	-			322			LDL receptor binding (Potential).		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.964G>A	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037296	0.75617	.	.	ENSG00000163956	ENST00000500728	T	0.49139	0.79	4.21	4.21	0.49690	Alpha-2-macroglobulin receptor-associated protein, domain 1 (1);Alpha-2-macroglobulin RAP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.68066	-0.5507	10	0.66056	D	0.02	-40.2195	14.1433	0.65334	0.0:1.0:0.0:0.0	.	322	P30533	AMRP_HUMAN	K	322	ENSP00000421922:E322K	ENSP00000421922:E322K	E	-	1	0	LRPAP1	3486324	1.000000	0.71417	0.048000	0.18961	0.115000	0.19883	4.827000	0.62723	2.192000	0.70111	0.561000	0.74099	GAG		0.662	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			42	87	0	0	0	1	0	42	87					T	3516526	C	T	3516526	3	4	120	1	0	0	0	0	1	0	0	0	8964	893	31	1	117	1	LRPAP1	4	3516526	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		3516526	187637750	3	2104											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	48	0	0	0	1	0	29	48					T	140453136	A	T	140453136	3	4	120	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		140453136	18685527	4	2105											
MCM4	4173	broad.mit.edu	37	8	48883923	48883923	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr8:48883923A>T	ENST00000262105.2	+	12	2032	c.1823A>T	c.(1822-1824)aAt>aTt	p.N608I	MCM4_ENST00000523944.1_Missense_Mutation_p.N608I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	608	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|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 helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTCAGCTCAATGCGCGCACC	0.498																																						uc003xqk.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(1822-1824)aAt>aTt		Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.							98	92	94					8																	48883923		2203	4300	6503	SO:0001583	missense	4173				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|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883923A>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1823A>T	8.37:g.48883923A>T	ENSP00000262105:p.Asn608Ile		Somatic				MCM4_uc003xql.2_Missense_Mutation_p.N608I|MCM4_uc011ldi.2_Missense_Mutation_p.N595I	p.N608I	NM_182746	NP_877423	WXS	Illumina GAIIx	Phase_I	P33991	MCM4_HUMAN			12	2649	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	608			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1823A>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156830	0.78114	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.08634	3.07;3.07	6.17	5.02	0.67125	ATPase, AAA+ type, core (1);	0.123647	0.85682	D	0.000000	T	0.46870	0.1415	H	0.99182	4.46	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.67102	-0.5755	10	0.87932	D	0	-36.8898	12.3678	0.55238	0.9348:0.0:0.0652:0.0	.	608;608	B3KMX0;P33991	.;MCM4_HUMAN	I	608;608;595;568	ENSP00000430194:N608I;ENSP00000262105:N608I	ENSP00000262105:N608I	N	+	2	0	MCM4	49046476	1.000000	0.71417	0.994000	0.49952	0.589000	0.36550	9.300000	0.96151	1.159000	0.42565	0.533000	0.62120	AAT		0.498	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		18	69	0	0	0	1	0	18	69					T	48883923	A	T	48883923	3	4	120	1	0	0	0	0	1	0	0	0	9389	101	4	5	1869	5	MCM4	8	48883923	Missense_Mutation	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		48883923	97480099	5	2106											
CCDC60	160777	broad.mit.edu	37	12	119916995	119916995	+	Silent	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr12:119916995C>T	ENST00000327554.2	+	4	903	c.438C>T	c.(436-438)acC>acT	p.T146T	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	146										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTCGCTAACCGAGGCTCACG	0.478																																						uc001txe.3																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(436-438)acC>acT		Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.							185	144	158					12																	119916995		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119916995C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.438C>T	12.37:g.119916995C>T			Somatic				AF086288_uc001txf.3_Intron	p.T146T	NM_178499	NP_848594	WXS	Illumina GAIIx	Phase_I	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	903	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		146						Silent	SNP	ENST00000327554.2	37	c.438C>T	CCDS9190.1																																																																																				0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		32	43	0	0	0	1	0	32	43					T	119916995	C	T	119916995	2	4	120	1	0	0	0	0	0	0	0	1	2831	639	23	1		1	CCDC60	12	119916995	Silent	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		119916995	13934900	6	2107											
MYCBP2	23077	broad.mit.edu	37	13	77763175	77763175	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:77763175T>C	ENST00000544440.2	-	30	4065	c.4048A>G	c.(4048-4050)Acc>Gcc	p.T1350A	MYCBP2_ENST00000407578.2_Missense_Mutation_p.T1388A|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T1350A					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCACTGGTTGGAAGTCTA	0.343																																						uc021rks.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4162-4164)Acc>Gcc		Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.							99	95	96					13																	77763175		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77763175T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4048A>G	13.37:g.77763175T>C	ENSP00000444596:p.Thr1350Ala		Somatic				MYCBP2_uc010aev.3_Missense_Mutation_p.T754A	p.T1388A	NM_015057	NP_055872	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	29	4429	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1350						Missense_Mutation	SNP	ENST00000544440.2	37	c.4162A>G		.	.	.	.	.	.	.	.	.	.	T	15.52	2.857417	0.51376	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29397	1.57;1.57;1.57	5.96	5.96	0.96718	.	0.064498	0.64402	D	0.000004	T	0.24122	0.0584	N	0.19112	0.55	0.45464	D	0.998434	B	0.16802	0.019	B	0.21360	0.034	T	0.02942	-1.1091	10	0.40728	T	0.16	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	1350	O75592	MYCB2_HUMAN	A	1350;1388;1350	ENSP00000349892:T1350A;ENSP00000384288:T1388A;ENSP00000444596:T1350A	ENSP00000349892:T1350A	T	-	1	0	MYCBP2	76661176	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.301000	0.72782	2.285000	0.76669	0.533000	0.62120	ACC		0.343	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		29	42	0	0	0	1	0	29	42					C	77763175	T	C	77763175	3	2	120	1	0	0	0	0	1	0	0	0	10018	1725	60	3	10090	3	MYCBP2	13	77763175	Missense_Mutation	SNP	T	TCGA-DJ-A3VB-01A-11D-A23M-08		77763175	37406703	7	2108											
GRK1	6011	broad.mit.edu	37	13	114324127	114324127	+	Silent	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:114324127C>T	ENST00000335678.6	+	2	1057	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAGGTGACATCAGGTAAGGGC	0.597																																						uc010tkf.2																			0				ovary(2)	2						c.(823-825)atC>atT		Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.							83	83	83					13																	114324127		1969	4147	6116	SO:0001819	synonymous_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114324127C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.825C>T	13.37:g.114324127C>T			Somatic					p.I275I	NM_002929	NP_002920	WXS	Illumina GAIIx	Phase_I	Q15835	RK_HUMAN	all cancers(43;0.234)		1	930	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	275			Protein kinase.		Q53X14	Silent	SNP	ENST00000335678.6	37	c.825C>T																																																																																					0.597	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		7	139	0	0	0	1	0	7	139					T	114324127	C	T	114324127	2	4	120	1	0	0	0	0	0	0	0	1	6790	816	29	2		2	GRK1	13	114324127	Silent	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08	36560952	114324127	845751	8	2109											
GPR139	124274	broad.mit.edu	37	16	20043241	20043241	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr16:20043241C>T	ENST00000570682.1	-	2	1178	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCCATGGTGCGGAACCGCTT	0.512																																						uc002dgu.1																			0		p.R293R(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(877-879)cGc>cAc		Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.							112	110	111					16																	20043241		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043241C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.878G>A	16.37:g.20043241C>T	ENSP00000458791:p.Arg293His		Somatic				GPR139_uc010vaw.1_Missense_Mutation_p.R200H	p.R293H	NM_001002911	NP_001002911	WXS	Illumina GAIIx	Phase_I	Q6DWJ6	GP139_HUMAN			1	1040	-			293					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.878G>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543913	0.86022	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70357	-0.4894	9	0.87932	D	0	-36.5487	18.4466	0.90686	0.0:1.0:0.0:0.0	.	293	Q6DWJ6	GP139_HUMAN	H	293	.	ENSP00000370779:R293H	R	-	2	0	GPR139	19950742	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.484000	0.81180	2.581000	0.87130	0.655000	0.94253	CGC		0.512	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		75	141	0	0	0	1	0	75	141					T	20043241	C	T	20043241	3	4	120	1	0	0	0	0	1	0	0	0	6648	768	27	1	187	1	GPR139	16	20043241	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		20043241	70311512	9	2110											
EXOC3L2	90332	broad.mit.edu	37	19	45721473	45721473	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr19:45721473C>T	ENST00000252482.3	-	6	672	c.645G>A	c.(643-645)atG>atA	p.M215I	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.M215I			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	215					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCGTCCTGCATTCTGCGCA	0.667																																						uc002pay.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(643-645)atG>atA		Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.							13	11	12					19																	45721473		2187	4274	6461	SO:0001583	missense	90332							g.chr19:45721473C>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.645G>A	19.37:g.45721473C>T	ENSP00000252482:p.Met215Ile		Somatic					p.M215I	NM_138568	NP_612635	WXS	Illumina GAIIx	Phase_I	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	6	686	-		all_neural(266;0.224)|Ovarian(192;0.231)	215					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.645G>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.098063	0.01843	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06608	3.28;3.28	3.74	3.74	0.42951	.	0.506389	0.20810	N	0.085262	T	0.05960	0.0155	L	0.36672	1.1	0.29961	N	0.819412	B	0.19445	0.036	B	0.22152	0.038	T	0.14952	-1.0454	10	0.18710	T	0.47	.	11.3799	0.49750	0.0:1.0:0.0:0.0	.	215	Q2M3D2	EX3L2_HUMAN	I	215	ENSP00000252482:M215I;ENSP00000400713:M215I	ENSP00000252482:M215I	M	-	3	0	EXOC3L2	50413313	1.000000	0.71417	0.952000	0.39060	0.375000	0.29983	4.593000	0.61034	1.815000	0.52974	0.205000	0.17691	ATG		0.667	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		5	8	0	0	0	1	0	5	8					T	45721473	C	T	45721473	3	4	120	1	0	0	0	0	1	0	0	0	5305	710	25	2	600	2	EXOC3L2	19	45721473	Missense_Mutation	SNP	C	TCGA-DJ-A3VB-01A-11D-A23M-08		45721473	13407510	10	2111											
ZNF630	57232	broad.mit.edu	37	X	47918136	47918136	+	Silent	SNP	A	A	G			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chrX:47918136A>G	ENST00000409324.3	-	5	1921	c.1695T>C	c.(1693-1695)caT>caC	p.H565H	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Silent_p.H441H|ZNF630_ENST00000442455.3_Silent_p.H551H	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	565					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(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTCTCCAGTATGACCTCTCT	0.453																																						uc004div.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(1693-1695)caT>caC		Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.							58	50	53					X																	47918136		2192	4287	6479	SO:0001819	synonymous_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918136A>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1695T>C	X.37:g.47918136A>G			Somatic				ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.H551H|ZNF630_uc022bvs.1_Silent_p.H565H	p.H565H	NM_001037735	NP_001032824	WXS	Illumina GAIIx	Phase_I	Q2M218	ZN630_HUMAN			4	1947	-			565					F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	c.1695T>C	CCDS35237.2																																																																																				0.453	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		4	15	0	0	0	1	0	4	15					G	47918136	A	G	47918136	2	3	120	1	0	0	0	0	0	0	0	1	18051	446	16	3		3	ZNF630	23	47918136	Silent	SNP	A	TCGA-DJ-A3VB-01A-11D-A23M-08		47918136	107352424	11	2112											
DHX36	170506	broad.mit.edu	37	3	154033843	154033843	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr3:154033843G>C	ENST00000496811.1	-	2	433	c.353C>G	c.(352-354)gCt>gGt	p.A118G	DHX36_ENST00000308361.6_Missense_Mutation_p.A118G|DHX36_ENST00000329463.5_Missense_Mutation_p.A118G|DHX36_ENST00000544526.1_Missense_Mutation_p.A118G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	118					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATCCTCAGGAGCAAACCAGGA	0.333																																						uc003ezy.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(352-354)gCt>gGt		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.							121	109	113					3																	154033843		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154033843G>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.353C>G	3.37:g.154033843G>C	ENSP00000417078:p.Ala118Gly		Somatic				DHX36_uc010hvq.3_Missense_Mutation_p.A118G|DHX36_uc003ezz.4_Missense_Mutation_p.A118G	p.A118G	NM_020865	NP_065916	WXS	Illumina GAIIx	Phase_I	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	434	-			118					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.353C>G	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176202	0.21704	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	D;D;D;D;T	0.91124	-2.79;-2.79;-2.79;-2.79;4.06	5.58	4.68	0.58851	.	0.566392	0.19635	N	0.109582	T	0.80686	0.4670	N	0.08118	0	0.31553	N	0.658563	B;B;B	0.27068	0.082;0.167;0.049	B;B;B	0.28011	0.058;0.085;0.026	T	0.77000	-0.2750	10	0.24483	T	0.36	.	12.8514	0.57860	0.0:0.0:0.7042:0.2958	.	118;118;118	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	G	118;118;118;118;32	ENSP00000417078:A118G;ENSP00000309296:A118G;ENSP00000444247:A118G;ENSP00000330113:A118G;ENSP00000419862:A32G	ENSP00000309296:A118G	A	-	2	0	DHX36	155516537	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.009000	0.63998	1.294000	0.44707	0.637000	0.83480	GCT		0.333	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		12	53	0	0	0	1	0	12	53					C	154033843	G	C	154033843	3	2	121	1	0	0	0	0	1	0	0	0	4509	971	34	4	2769	4	DHX36	3	154033843	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		154033843	43988587	1	2113											
BMP6	654	broad.mit.edu	37	6	7862663	7862663	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr6:7862663G>A	ENST00000283147.6	+	4	1295	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	379					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|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 protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCCTCCAGCCGGCGCCGACAA	0.607																																						uc003mxu.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(1135-1137)cGg>cAg		Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.							65	65	65					6																	7862663		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7862663G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1136G>A	6.37:g.7862663G>A	ENSP00000283147:p.Arg379Gln		Somatic					p.R379Q	NM_001718	NP_001709	WXS	Illumina GAIIx	Phase_I	P22004	BMP6_HUMAN			3	1314	+	Ovarian(93;0.0721)		379					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.1136G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862836	0.91511	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.74209	-0.82	5.8	5.8	0.92144	.	0.058336	0.64402	D	0.000002	T	0.56659	0.2000	M	0.63428	1.95	0.46564	D	0.999107	P	0.34462	0.454	B	0.20384	0.029	T	0.62144	-0.6916	10	0.40728	T	0.16	.	13.2791	0.60205	0.0719:0.0:0.928:0.0	.	379	P22004	BMP6_HUMAN	Q	301;379;342	ENSP00000283147:R379Q	ENSP00000283147:R379Q	R	+	2	0	BMP6	7807662	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.387000	0.66243	2.735000	0.93741	0.655000	0.94253	CGG		0.607	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		8	136	0	0	0	1	0	8	136					A	7862663	G	A	7862663	3	1	121	1	0	0	0	0	1	0	0	0	1464	1116	39	1	1150	1	BMP6	6	7862663	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		7862663	163252404	2	2114											
COL12A1	1303	broad.mit.edu	37	6	75884986	75884986	+	Silent	SNP	C	C	T			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr6:75884986C>T	ENST00000322507.8	-	13	2787	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T826T|COL12A1_ENST00000416123.2_Silent_p.T826T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	826	Fibronectin type-III 5. {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						TAGTAGACGTCGTAGGGTCAG	0.393																																						uc021zbv.1																			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.(2476-2478)acG>acA		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.							107	101	103					6																	75884986		1857	4085	5942	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884986C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2478G>A	6.37:g.75884986C>T			Somatic				COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.T826T|COL12A1_uc003pht.3_Intron	p.T826T	NM_004370	NP_004361	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			11	2513	-			826			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.2478G>A	CCDS43482.1																																																																																				0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	122	0	0	0	1	0	15	122					T	75884986	C	T	75884986	2	4	121	1	0	0	0	0	0	0	0	1	3669	871	31	1		1	COL12A1	6	75884986	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	68022323	75884986	95230081	3	2115											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	91	0	0	0	1	0	39	91					T	140453136	A	T	140453136	3	4	121	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VE-01A-11D-A23M-08		140453136	18685527	4	2116											
DERL1	79139	broad.mit.edu	37	8	124034940	124034940	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr8:124034940A>G	ENST00000259512.4	-	5	737	c.437T>C	c.(436-438)tTt>tCt	p.F146S	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.F146S|DERL1_ENST00000523036.1_Missense_Mutation_p.F46S|DERL1_ENST00000519018.1_Missense_Mutation_p.F46S|DERL1_ENST00000419562.2_Intron	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	146					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCGTGTTCCAAACCAAAATGA	0.413											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ypl.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(436-438)tTt>tCt		Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.							215	191	199					8																	124034940		2203	4300	6503	SO:0001583	missense	79139				ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124034940A>G	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.437T>C	8.37:g.124034940A>G	ENSP00000259512:p.Phe146Ser		Somatic	OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DERL1_uc003ypm.2_Missense_Mutation_p.F146S|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Missense_Mutation_p.F146S	p.F146S	NM_024295	NP_077271	WXS	Illumina GAIIx	Phase_I	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	723	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		146					B3KW41|E9PH19	Missense_Mutation	SNP	ENST00000259512.4	37	c.437T>C	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334388	0.81801	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000519018;ENST00000523036	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.68	5.68	0.88126	.	0.089656	0.85682	D	0.000000	T	0.60818	0.2298	M	0.91196	3.185	0.80722	D	1	D;D	0.60160	0.958;0.987	D;D	0.72338	0.913;0.977	T	0.65545	-0.6142	10	0.11794	T	0.64	.	15.9239	0.79597	1.0:0.0:0.0:0.0	.	146;146	Q9BUN8-2;Q9BUN8	.;DERL1_HUMAN	S	146;146;46;46	ENSP00000259512:F146S;ENSP00000384289:F146S;ENSP00000430086:F46S;ENSP00000429199:F46S	ENSP00000259512:F146S	F	-	2	0	DERL1	124104121	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.938000	0.92943	2.170000	0.68504	0.533000	0.62120	TTT		0.413	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		82	164	0	0	0	1	0	82	164					G	124034940	A	G	124034940	3	3	121	1	0	0	0	0	1	0	0	0	4446	14	1	3	334	3	DERL1	8	124034940	Missense_Mutation	SNP	A	TCGA-DJ-A3VE-01A-11D-A23M-08		124034940	22329082	5	2117											
C9orf125	84302	broad.mit.edu	37	9	104238214	104238214	+	Silent	SNP	G	G	A			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:104238214G>A	ENST00000374851.1	-	4	2308	c.1161C>T	c.(1159-1161)caC>caT	p.H387H	RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Silent_p.H387H|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Silent_p.H387H			Q9BRR3	TM246_HUMAN	transmembrane protein 246	387						integral component of membrane (GO:0016021)											AGAGCCCGATGTGTTTCACGA	0.527																																						uc004bbm.3																			0											c.(1159-1161)caC>caT		Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.							103	100	101					9																	104238214		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238214G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1161C>T	9.37:g.104238214G>A			Somatic				AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.H387H	p.H387H	NM_032342	NP_115718	WXS	Illumina GAIIx	Phase_I	Q9BRR3	CI125_HUMAN			1	1483	-			387					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.1161C>T	CCDS6757.1																																																																																				0.527	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		24	130	0	0	0	1	0	24	130					A	104238214	G	A	104238214	2	1	121	1	0	0	0	0	0	0	0	1	2454	1368	48	2		2	C9orf125	9	104238214	Silent	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		104238214	36975217	6	2118											
STXBP1	6812	broad.mit.edu	37	9	130374691	130374691	+	Silent	SNP	C	C	G			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:130374691C>G	ENST00000373299.1	+	1	124	c.9C>G	c.(7-9)ccC>ccG	p.P3P	STXBP1_ENST00000373302.3_Silent_p.P3P	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	3					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CCATGGCCCCCATTGGCCTCA	0.741																																						uc004brk.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(7-9)ccC>ccG		Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.							28	21	23					9																	130374691		2198	4289	6487	SO:0001819	synonymous_variant	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130374691C>G	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.9C>G	9.37:g.130374691C>G			Somatic				STXBP1_uc004brl.2_Silent_p.P3P	p.P3P	NM_003165	NP_003156	WXS	Illumina GAIIx	Phase_I	P61764	STXB1_HUMAN			0	206	+			3					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	c.9C>G	CCDS35146.1																																																																																				0.741	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		2	14	0	0	0	1	0	2	14					G	130374691	C	G	130374691	2	3	121	1	0	0	0	0	0	0	0	1	15351	581	21	4		4	STXBP1	9	130374691	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	26136477	130374691	10838740	7	2119											
CACNA1B	774	broad.mit.edu	37	9	140777318	140777318	+	Silent	SNP	C	C	T	rs200076426		TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr9:140777318C>T	ENST00000371372.1	+	3	658	c.513C>T	c.(511-513)ttC>ttT	p.F171F	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.F171F|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Silent_p.F171F|CACNA1B_ENST00000277551.2_Silent_p.F171F|CACNA1B_ENST00000371355.4_Silent_p.F171F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	171					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)	TCATGGACTTCGTGGTCGTCC	0.607																																						uc004cog.3																			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.(511-513)ttC>ttT		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						173	187	183					9																	140777318		2126	4253	6379	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140777318C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.513C>T	9.37:g.140777318C>T			Somatic				AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Silent_p.F171F	p.F171F	NM_000718	NP_000709	WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	2	658	+	all_cancers(76;0.166)		171					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.513C>T	CCDS59522.1																																																																																				0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		25	350	0	0	0	1	0	25	350					T	140777318	C	T	140777318	2	4	121	1	0	0	0	0	0	0	0	1	2539	883	31	1		1	CACNA1B	9	140777318	Silent	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08	10402627	140777318	436113	8	2120											
PSAP	5660	broad.mit.edu	37	10	73587777	73587777	+	Silent	SNP	G	G	A	rs141199649	byFrequency	TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr10:73587777G>A	ENST00000394936.3	-	6	861	c.714C>T	c.(712-714)gcC>gcT	p.A238A	PSAP_ENST00000394934.1_Silent_p.A238A			P07602	SAP_HUMAN	prosaposin	238	Saposin B-type 2. {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						TCACTATGTCGGCCATGCCAG	0.572																																						uc001jsm.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.(712-714)gcC>gcT		Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.							104	77	86					10																	73587777		2203	4300	6503	SO:0001819	synonymous_variant	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73587777G>A	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.714C>T	10.37:g.73587777G>A			Somatic					p.A238A	NM_002778	NP_002769	WXS	Illumina GAIIx	Phase_I	P07602	SAP_HUMAN			5	818	-			238			Saposin B-type 2.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	c.714C>T	CCDS7311.1																																																																																				0.572	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		6	79	0	0	0	1	0	6	79					A	73587777	G	A	73587777	2	1	121	1	0	0	0	0	0	0	0	1	12643	1103	39	1		1	PSAP	10	73587777	Silent	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		73587777	61946970	9	2121											
OR4S1	256148	broad.mit.edu	37	11	48328468	48328468	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr11:48328468C>T	ENST00000319988.1	+	1	694	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGAGGACCGGCGTAAGGCTGT	0.478																																						uc010rhu.2																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(694-696)Cgt>Tgt		Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.							211	191	198					11																	48328468		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328468C>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.694C>T	11.37:g.48328468C>T	ENSP00000321447:p.Arg232Cys		Somatic					p.R232C	NM_001004725	NP_001004725	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			0	694	+			232					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.694C>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	5.337	0.247435	0.10130	.	.	ENSG00000176555	ENST00000319988	T	0.00164	8.64	5.02	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.48362	1.52	0.09310	N	1	B	0.22276	0.067	B	0.27170	0.077	T	0.33343	-0.9872	9	0.59425	D	0.04	.	3.1116	0.06360	0.1932:0.5271:0.0:0.2797	.	232	Q8NGB4	OR4S1_HUMAN	C	232	ENSP00000321447:R232C	ENSP00000321447:R232C	R	+	1	0	OR4S1	48285044	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.093000	0.11111	1.248000	0.43934	0.655000	0.94253	CGT		0.478	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		9	269	0	0	0	1	0	9	269					T	48328468	C	T	48328468	3	4	121	1	0	0	0	0	1	0	0	0	11082	768	27	1	696	1	OR4S1	11	48328468	Missense_Mutation	SNP	C	TCGA-DJ-A3VE-01A-11D-A23M-08		48328468	86678048	10	2122											
VPS4B	9525	broad.mit.edu	37	18	61077535	61077535	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr18:61077535G>A	ENST00000238497.5	-	3	487	c.284C>T	c.(283-285)gCa>gTa	p.A95V	VPS4B_ENST00000591519.1_Missense_Mutation_p.A95V	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	95					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTTCTCATCTGCTGGACTCGG	0.358																																						uc002lix.3																			0				breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(283-285)gCa>gTa		Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.							217	202	207					18																	61077535		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61077535G>A	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.284C>T	18.37:g.61077535G>A	ENSP00000238497:p.Ala95Val		Somatic				VPS4B_uc010dpx.3_Missense_Mutation_p.A95V|VPS4B_uc010dpy.3_5'UTR|VPS4B_uc010dpz.1_5'UTR	p.A95V	NM_004869	NP_004860	WXS	Illumina GAIIx	Phase_I	O75351	VPS4B_HUMAN			2	544	-			95					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.284C>T	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506797	0.26949	.	.	ENSG00000119541	ENST00000238497	D	0.93906	-3.31	5.63	3.76	0.43208	.	0.446123	0.25458	N	0.030535	D	0.87216	0.6122	N	0.25647	0.755	0.34374	D	0.692331	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.005	D	0.85892	0.1429	10	0.36615	T	0.2	-9.0418	10.4142	0.44311	0.0748:0.1347:0.7905:0.0	.	95;95	A8K4G7;O75351	.;VPS4B_HUMAN	V	95	ENSP00000238497:A95V	ENSP00000238497:A95V	A	-	2	0	VPS4B	59228515	0.990000	0.36364	0.923000	0.36655	0.522000	0.34438	2.463000	0.45058	1.363000	0.46019	0.655000	0.94253	GCA		0.358	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		110	187	0	0	0	1	0	110	187					A	61077535	G	A	61077535	3	1	121	1	0	0	0	0	1	0	0	0	17210	1319	46	2	1086	2	VPS4B	18	61077535	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		61077535	16999713	11	2123											
GZF1	64412	broad.mit.edu	37	20	23349552	23349552	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr20:23349552T>C	ENST00000338121.5	+	4	1690	c.1613T>C	c.(1612-1614)aTt>aCt	p.I538T	GZF1_ENST00000542987.1_Missense_Mutation_p.I47T|GZF1_ENST00000544236.1_Missense_Mutation_p.I62T|GZF1_ENST00000377051.2_Missense_Mutation_p.I538T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	538					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TACCAGCATATTAAAGTCCAC	0.378																																						uc010gdb.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1612-1614)aTt>aCt		Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.							106	105	105					20																	23349552		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23349552T>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1613T>C	20.37:g.23349552T>C	ENSP00000338290:p.Ile538Thr		Somatic				GZF1_uc002wsy.3_Missense_Mutation_p.I538T|GZF1_uc010zsq.2_Missense_Mutation_p.I62T|GZF1_uc010zsr.2_Missense_Mutation_p.I47T|GZF1_uc002wsz.3_Missense_Mutation_p.I538T	p.I538T	NM_022482	NP_071927	WXS	Illumina GAIIx	Phase_I	Q9H116	GZF1_HUMAN			4	1787	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		538					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1613T>C	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638414	0.29157	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.87	4.76	0.60689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.201336	0.32120	N	0.006543	T	0.14830	0.0358	N	0.20610	0.595	0.35766	D	0.820556	P	0.43938	0.822	B	0.40825	0.341	T	0.16129	-1.0413	10	0.40728	T	0.16	.	11.6634	0.51361	0.1328:0.0:0.0:0.8671	.	538	Q9H116	GZF1_HUMAN	T	62;538;47;538	ENSP00000445458:I62T;ENSP00000338290:I538T;ENSP00000445118:I47T;ENSP00000366250:I538T	ENSP00000338290:I538T	I	+	2	0	GZF1	23297552	0.872000	0.30054	0.878000	0.34440	0.371000	0.29859	4.196000	0.58407	1.020000	0.39573	0.528000	0.53228	ATT		0.378	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		24	158	0	0	0	1	0	24	158					C	23349552	T	C	23349552	3	2	121	1	0	0	0	0	1	0	0	0	6914	1493	52	3	1623	3	GZF1	20	23349552	Missense_Mutation	SNP	T	TCGA-DJ-A3VE-01A-11D-A23M-08		23349552	39675968	12	2124											
APOL2	23780	broad.mit.edu	37	22	36623751	36623751	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VE-01A-11D-A23M-08	TCGA-DJ-A3VE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	749bbead-26b4-4262-9bcf-f9c209a45bfb	1178e2e9-37c4-4111-80ac-e57b675025bb	g.chr22:36623751G>A	ENST00000249066.6	-	6	1189	c.713C>T	c.(712-714)gCg>gTg	p.A238V	APOL2_ENST00000358502.5_Missense_Mutation_p.A238V|APOL2_ENST00000451256.2_Missense_Mutation_p.A350V	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	238					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TGGGGCATACGCTCCTAACTG	0.542																																						uc011amm.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(1048-1050)gCg>gTg		Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.							123	126	125					22																	36623751		2173	4292	6465	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36623751G>A	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"Apolipoproteins"	619	protein-coding gene	gene with protein product	"apolipoprotein L-II"	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.713C>T	22.37:g.36623751G>A	ENSP00000249066:p.Ala238Val		Somatic				APOL2_uc003aoz.3_Missense_Mutation_p.A238V|APOL2_uc003apa.3_Missense_Mutation_p.A238V	p.A350V	NM_145637	NP_663612	WXS	Illumina GAIIx	Phase_I	Q9BQE5	APOL2_HUMAN			5	1092	-			238					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.1049C>T	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724214	0.30593	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.03982	3.74;3.74;3.74	3.71	-7.41	0.01392	.	1.441560	0.04508	N	0.382331	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	P;P	0.51653	0.904;0.947	B;B	0.44278	0.445;0.411	T	0.32929	-0.9888	10	0.46703	T	0.11	.	8.781	0.34792	0.0:0.4675:0.1765:0.3561	.	350;238	B4E1T5;Q9BQE5	.;APOL2_HUMAN	V	238;238;350	ENSP00000351292:A238V;ENSP00000249066:A238V;ENSP00000403153:A350V	ENSP00000249066:A238V	A	-	2	0	APOL2	34953697	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.970000	0.03810	-1.278000	0.02408	0.411000	0.27672	GCG		0.542	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		100	135	0	0	0	1	0	100	135					A	36623751	G	A	36623751	3	1	121	1	0	0	0	0	1	0	0	0	806	1087	38	1	304	1	APOL2	22	36623751	Missense_Mutation	SNP	G	TCGA-DJ-A3VE-01A-11D-A23M-08		36623751	14680815	13	2125											
BBS12	166379	broad.mit.edu	37	4	123664933	123664933	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr4:123664933C>G	ENST00000314218.3	+	2	2079	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C	BBS12_ENST00000542236.1_Missense_Mutation_p.S629C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	629					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GCCACAGACTCTGGCTCTCCT	0.348									Bardet-Biedl syndrome																													uc021xrm.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1885-1887)tCt>tGt		Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.							79	76	77					4																	123664933		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664933C>G	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1886C>G	4.37:g.123664933C>G	ENSP00000319062:p.Ser629Cys		Somatic				BBS12_uc003ieu.3_Missense_Mutation_p.S629C|BBS12_uc021xrn.1_Missense_Mutation_p.S629C	p.S629C	NM_001178007	NP_689831	WXS	Illumina GAIIx	Phase_I	Q6ZW61	BBS12_HUMAN			2	2267	+			629					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1886C>G	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581096	0.28180	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.69685	-0.42;-0.42	5.81	4.92	0.64577	.	0.440682	0.22942	N	0.053772	T	0.60650	0.2285	L	0.50919	1.6	0.09310	N	1	B	0.34399	0.452	B	0.36766	0.232	T	0.55566	-0.8121	10	0.35671	T	0.21	-13.6	11.4072	0.49904	0.1199:0.711:0.1692:0.0	.	629	Q6ZW61	BBS12_HUMAN	C	629	ENSP00000319062:S629C;ENSP00000438273:S629C	ENSP00000319062:S629C	S	+	2	0	BBS12	123884383	1.000000	0.71417	0.329000	0.25429	0.790000	0.44656	2.572000	0.45999	2.746000	0.94184	0.591000	0.81541	TCT		0.348	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		17	61	0	0	0	1	0	17	61					G	123664933	C	G	123664933	3	3	122	1	0	0	0	0	1	0	0	0	1337	913	32	4	1888	4	BBS12	4	123664933	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		123664933	67489343	1	2126											
IMPG1	3617	broad.mit.edu	37	6	76751735	76751735	+	Missense_Mutation	SNP	C	C	T	rs147225489		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr6:76751735C>T	ENST00000369950.3	-	2	365	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATCGAATATTCGTCTCATAGT	0.358													C|||	1	0.000199681	0	0	5008	,	,		18192	0		0.001	False		,,,				2504	0				Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(175-177)cGa>cAa		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	191	178	182		176	2.0	0.4	6	dbSNP_134	182	0,8600		0,0,4300	no	missense	IMPG1	NM_001563.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	59/798	76751735	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751735C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.176G>A	6.37:g.76751735C>T	ENSP00000358966:p.Arg59Gln		Somatic					p.R59Q	NM_001563	NP_001554	WXS	Illumina GAIIx	Phase_I	Q17R60	IMPG1_HUMAN			1	306	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	59						Missense_Mutation	SNP	ENST00000369950.3	37	c.176G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142296	0.21205	2.27E-4	0.0	ENSG00000112706	ENST00000369950	T	0.23950	1.88	6.07	1.97	0.26223	.	0.327775	0.25130	N	0.032906	T	0.06050	0.0157	L	0.43152	1.355	0.34239	D	0.677363	P	0.34934	0.476	B	0.19946	0.027	T	0.30995	-0.9959	9	.	.	.	.	7.3362	0.26611	0.1173:0.6825:0.0:0.2002	.	59	Q17R60	IMPG1_HUMAN	Q	59	ENSP00000358966:R59Q	.	R	-	2	0	IMPG1	76808455	0.097000	0.21791	0.351000	0.25721	0.200000	0.23975	0.370000	0.20433	0.064000	0.16427	0.655000	0.94253	CGA		0.358	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		40	81	0	0	0	1	0	40	81					T	76751735	C	T	76751735	3	4	122	1	0	0	0	0	1	0	0	0	7728	884	31	1	2281	1	IMPG1	6	76751735	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		76751735	94363332	2	2127											
LRRC17	10234	broad.mit.edu	37	7	102574783	102574783	+	Missense_Mutation	SNP	C	C	G	rs368332401		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr7:102574783C>G	ENST00000339431.4	+	2	718	c.423C>G	c.(421-423)atC>atG	p.I141M	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.I141M|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	141					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAACCAGATCAAAGTCTTGA	0.448																																						uc003vau.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(421-423)atC>atG		Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.		C	MET/ILE,,MET/ILE,	0,4406		0,0,2203	114	109	111		423,,423,	2.4	1.0	7		111	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense,intron	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	10,,10,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging,	141/442,,141/314,	102574783	1,13005	2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574783C>G	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.423C>G	7.37:g.102574783C>G	ENSP00000344242:p.Ile141Met		Somatic				FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.I141M	p.I141M	NM_001031692	NP_001026862	WXS	Illumina GAIIx	Phase_I	Q8N6Y2	LRC17_HUMAN			1	812	+			141					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.423C>G	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310321	0.40895	0.0	1.16E-4	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.64618	-0.11;-0.11	5.41	2.42	0.29668	.	0.216848	0.31323	N	0.007859	T	0.59569	0.2203	M	0.84433	2.695	0.49582	D	0.999802	B;B	0.25809	0.099;0.135	B;B	0.25614	0.062;0.037	T	0.61073	-0.7136	10	0.87932	D	0	-11.7694	3.3288	0.07076	0.407:0.3675:0.1336:0.0919	.	141;141	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	M	141	ENSP00000344242:I141M;ENSP00000249377:I141M	ENSP00000249377:I141M	I	+	3	3	LRRC17	102362019	0.996000	0.38824	0.991000	0.47740	0.993000	0.82548	0.472000	0.22116	0.749000	0.32854	0.557000	0.71058	ATC		0.448	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		6	83	0	0	0	1	0	6	83					G	102574783	C	G	102574783	3	3	122	1	0	0	0	0	1	0	0	0	8973	816	29	4	425	4	LRRC17	7	102574783	Missense_Mutation	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		102574783	56563880	3	2128											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	79	0	0	0	1	0	24	79					T	140453136	A	T	140453136	3	4	122	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VF-01A-11D-A23M-08	37878353	140453136	18685527	4	2129											
CKAP4	10970	broad.mit.edu	37	12	106633705	106633705	+	Silent	SNP	G	G	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr12:106633705G>A	ENST00000378026.4	-	2	1042	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	302						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCCACTCTCTGGACTTGGCTG	0.537																																						uc001tlk.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(904-906)tcC>tcT		Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.							120	122	121					12																	106633705		2203	4300	6503	SO:0001819	synonymous_variant	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633705G>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.906C>T	12.37:g.106633705G>A			Somatic					p.S302S	NM_006825	NP_006816	WXS	Illumina GAIIx	Phase_I	Q07065	CKAP4_HUMAN			1	990	-			302					Q504S5|Q53ES6	Silent	SNP	ENST00000378026.4	37	c.906C>T	CCDS9103.1																																																																																				0.537	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			24	136	0	0	0	1	0	24	136					A	106633705	G	A	106633705	2	1	122	1	0	0	0	0	0	0	0	1	3444	1335	47	2		2	CKAP4	12	106633705	Silent	SNP	G	TCGA-DJ-A3VF-01A-11D-A23M-08		106633705	27218190	5	2130											
SLC8A3	6547	broad.mit.edu	37	14	70634771	70634771	+	Silent	SNP	T	T	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr14:70634771T>A	ENST00000381269.2	-	2	1122	c.369A>T	c.(367-369)acA>acT	p.T123T	SLC8A3_ENST00000357887.3_Silent_p.T123T|SLC8A3_ENST00000534137.1_Silent_p.T123T|SLC8A3_ENST00000356921.2_Silent_p.T123T|SLC8A3_ENST00000528359.1_Silent_p.T123T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	123					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAATAGTGGTTGTGCTGGTTT	0.488																																						uc001xly.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(367-369)acA>acT		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.							112	97	102					14																	70634771		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634771T>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.369A>T	14.37:g.70634771T>A			Somatic				SLC8A3_uc001xlw.3_Silent_p.T123T|SLC8A3_uc001xlx.3_Silent_p.T123T|SLC8A3_uc001xlz.3_Silent_p.T123T|SLC8A3_uc010ara.3_Non-coding_Transcript	p.T123T	NM_183002	NP_892114	WXS	Illumina GAIIx	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	1	1123	-			123					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.369A>T	CCDS35498.1																																																																																				0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			12	43	0	0	0	1	0	12	43					A	70634771	T	A	70634771	2	1	122	1	0	0	0	0	0	0	0	1	14708	1799	63	5		5	SLC8A3	14	70634771	Silent	SNP	T	TCGA-DJ-A3VF-01A-11D-A23M-08		70634771	36714769	6	2131											
CRYM	1428	broad.mit.edu	37	16	21272640	21272640	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr16:21272640A>T	ENST00000219599.3	-	9	1080	c.815T>A	c.(814-816)cTg>cAg	p.L272Q	CRYM_ENST00000396023.2_Missense_Mutation_p.L272Q|CRYM_ENST00000543948.1_Missense_Mutation_p.L272Q|CRYM_ENST00000415987.2_Missense_Mutation_p.L230Q	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	272					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CACTTCTCCCAGCTCAGCAAA	0.507																																						uc002dim.3																			0				large_intestine(1)|lung(3)	4						c.(814-816)cTg>cAg		Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	Levothyroxine(DB00451)						123	101	108					16																	21272640		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21272640A>T		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"thiomorpholine-carboxylate dehydrogenase"	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.815T>A	16.37:g.21272640A>T	ENSP00000219599:p.Leu272Gln		Somatic				CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.L230Q	p.L272Q	NM_001888	NP_001014444	WXS	Illumina GAIIx	Phase_I	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	8	1113	-			272					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.815T>A	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501180	0.85176	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.66	5.49	5.49	0.81192	NAD(P)-binding domain (1);	0.069610	0.64402	D	0.000014	D	0.93517	0.7931	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.95163	0.8283	10	0.87932	D	0	-17.801	13.3133	0.60393	1.0:0.0:0.0:0.0	.	272	Q14894	CRYM_HUMAN	Q	272;272;272;230	ENSP00000440227:L272Q;ENSP00000219599:L272Q;ENSP00000379341:L272Q;ENSP00000390928:L230Q	ENSP00000219599:L272Q	L	-	2	0	CRYM	21180141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.327000	0.90012	2.090000	0.63153	0.533000	0.62120	CTG		0.507	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			10	35	0	0	0	1	0	10	35					T	21272640	A	T	21272640	3	4	122	1	0	0	0	0	1	0	0	0	3921	188	7	5	137	5	CRYM	16	21272640	Missense_Mutation	SNP	A	TCGA-DJ-A3VF-01A-11D-A23M-08		21272640	69082113	7	2132											
FLOT2	2319	broad.mit.edu	37	17	27209047	27209047	+	Splice_Site	SNP	C	C	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr17:27209047C>A	ENST00000394908.4	-	8	804		c.e8-1		FLOT2_ENST00000585169.1_Splice_Site|FLOT2_ENST00000577789.1_Splice_Site|FLOT2_ENST00000394906.2_Splice_Site	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2						cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCTCAGCTGTCTGTGGCAAGA	0.567																																						uc002hdc.3																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.e8-1		Homo sapiens flotillin 2 (FLOT2), mRNA.							39	40	39					17																	27209047		2068	4207	6275	SO:0001630	splice_region_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27209047C>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.700-1G>T	17.37:g.27209047C>A			Somatic					p.T234_splice	NM_004475	NP_004466	WXS	Illumina GAIIx	Phase_I	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		8	823	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		234						Splice_Site	SNP	ENST00000394908.4	37	c.700_splice	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052226	0.75960	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4614	0.90739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLOT2	24233173	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.783000	0.85696	2.622000	0.88805	0.591000	0.81541	.		0.567	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475	Intron	5	52	0	0	0	1	0	5	52					A	27209047	C	A	27209047	5	1	122	1	0	0	0	0	0	0	1	0	5937	927	32	4	603	4	FLOT2	17	27209047	Splice_Site	SNP	C	TCGA-DJ-A3VF-01A-11D-A23M-08		27209047	53986163	8	2133											
DGCR2	9993	broad.mit.edu	37	22	19028788	19028788	+	Silent	SNP	G	G	A			TCGA-DJ-A3VF-01A-11D-A23M-08	TCGA-DJ-A3VF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e5477ece-95a6-4fdf-a9df-e81444e69336	d269d2ff-62b4-48c6-8020-9473ae00cbb2	g.chr22:19028788G>A	ENST00000263196.7	-	9	1426	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	DGCR2_ENST00000537045.1_Silent_p.G352G|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	393					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGATCCTGCGGCCGAGGTTGA	0.622																																						uc002zoq.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(1177-1179)ggC>ggT		Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.							73	72	72					22																	19028788		2203	4300	6503	SO:0001819	synonymous_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19028788G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1179C>T	22.37:g.19028788G>A			Somatic				DGCR2_uc021wkx.1_Silent_p.G390G|DGCR2_uc021wky.1_Silent_p.G352G|DGCR2_uc021wkz.1_Silent_p.G169G|DGCR2_uc011agr.1_Silent_p.G349G|DGCR2_uc002zor.1_Silent_p.G169G	p.G393G	NM_005137	NP_005128	WXS	Illumina GAIIx	Phase_I	P98153	IDD_HUMAN			8	1427	-	Colorectal(54;0.0993)		393					A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.1179C>T	CCDS33598.1																																																																																				0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		25	59	0	0	0	1	0	25	59					A	19028788	G	A	19028788	2	1	122	1	0	0	0	0	0	0	0	1	4461	1190	42	2		2	DGCR2	22	19028788	Silent	SNP	G	TCGA-DJ-A3VF-01A-11D-A23M-08		19028788	32275778	9	2134											
CATSPER4	378807	broad.mit.edu	37	1	26527433	26527433	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr1:26527433C>T	ENST00000456354.2	+	8	1167	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	367					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCCCTGTCGAACCTCTCA	0.547																																						uc010oez.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(1099-1101)tCg>tTg		Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.							77	76	76					1																	26527433		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527433C>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1100C>T	1.37:g.26527433C>T	ENSP00000390423:p.Ser367Leu		Somatic				CATSPER4_uc010oey.1_Missense_Mutation_p.S189L|CATSPER4_uc009vsf.3_Non-coding_Transcript	p.S367L	NM_198137	NP_937770	WXS	Illumina GAIIx	Phase_I	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	7	1100	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	367					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.1100C>T	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012542	0.35511	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97665	-4.48;-4.48	4.65	-0.0253	0.13935	.	2.425200	0.01701	N	0.027199	D	0.92928	0.7750	L	0.29908	0.895	0.09310	N	1	B;B	0.18013	0.014;0.025	B;B	0.06405	0.001;0.002	D	0.84023	0.0355	10	0.42905	T	0.14	2.1313	2.4545	0.04526	0.1802:0.3758:0.3333:0.1107	.	367;351	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	L	367	ENSP00000341006:S367L;ENSP00000390423:S367L	ENSP00000341006:S367L	S	+	2	0	CATSPER4	26400020	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.291000	0.08343	0.353000	0.24079	0.313000	0.20887	TCG		0.547	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		29	83	0	0	0	1	0	29	83					T	26527433	C	T	26527433	3	4	123	1	0	0	0	0	1	0	0	0	2690	893	31	1	1130	1	CATSPER4	1	26527433	Missense_Mutation	SNP	C	TCGA-DJ-A3VJ-01A-11D-A23M-08		26527433	222723188	1	2135											
BIRC6	57448	broad.mit.edu	37	2	32694627	32694627	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr2:32694627A>T	ENST00000421745.2	+	30	6426	c.6292A>T	c.(6292-6294)Aat>Tat	p.N2098Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2098					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTTCTTTCTAATGTCCTTCA	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.3																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(6292-6294)Aat>Tat		Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.							307	296	300					2																	32694627		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32694627A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6292A>T	2.37:g.32694627A>T	ENSP00000393596:p.Asn2098Tyr		Somatic					p.N2098Y	NM_016252	NP_057336	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			29	6426	+	Acute lymphoblastic leukemia(172;0.155)		2098					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6292A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638363	0.87760	.	.	ENSG00000115760	ENST00000421745	T	0.76186	-1.0	5.26	5.26	0.73747	.	0.058277	0.64402	N	0.000004	D	0.83220	0.5207	L	0.55481	1.735	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	D	0.85149	0.0985	10	0.87932	D	0	.	15.5155	0.75822	1.0:0.0:0.0:0.0	.	2098	Q9NR09	BIRC6_HUMAN	Y	2098	ENSP00000393596:N2098Y	ENSP00000393596:N2098Y	N	+	1	0	BIRC6	32548131	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.132000	0.65825	0.477000	0.44152	AAT		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		78	239	0	0	0	1	0	78	239					T	32694627	A	T	32694627	3	4	123	1	0	0	0	0	1	0	0	0	1438	362	13	5	6410	5	BIRC6	2	32694627	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		32694627	210504746	2	2136											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		44	89	0	0	0	1	0	44	89					T	140453136	A	T	140453136	3	4	123	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		140453136	18685527	3	2137											
APBA1	320	broad.mit.edu	37	9	72082820	72082820	+	Silent	SNP	G	G	A			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr9:72082820G>A	ENST00000265381.4	-	5	1623	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	467	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCTGAGTGGAGCCAAGGTAAT	0.532																																						uc004ahh.2																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1399-1401)ggC>ggT		Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.							201	202	202					9																	72082820		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72082820G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1401C>T	9.37:g.72082820G>A			Somatic					p.G467G	NM_001163	NP_001154	WXS	Illumina GAIIx	Phase_I	Q02410	APBA1_HUMAN			4	1677	-			467			PID.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1401C>T	CCDS6630.1																																																																																				0.532	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		91	216	0	0	0	1	0	91	216					A	72082820	G	A	72082820	2	1	123	1	0	0	0	0	0	0	0	1	756	958	34	2		2	APBA1	9	72082820	Silent	SNP	G	TCGA-DJ-A3VJ-01A-11D-A23M-08		72082820	69130611	4	2138											
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																	uc001ypk.3	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		102	Substitution - Missense(102)	p.E17K(255)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys		Somatic				AKT1_uc001ypl.3_Missense_Mutation_p.E17K|AKT1_uc010axa.3_Missense_Mutation_p.E17K|AKT1_uc001ypm.3_Missense_Mutation_p.E17K|AKT1_uc001ypn.3_Missense_Mutation_p.E17K|AKT1_uc010tyk.2_5'Flank	p.E17K	NM_005163	NP_005154	WXS	Illumina GAIIx	Phase_I	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	603	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		9	27	0	0	0	1	0	9	27					T	105246551	C	T	105246551	3	4	123	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-DJ-A3VJ-01A-11D-A23M-08		105246551	2102989	5	2139											
BPTF	2186	broad.mit.edu	37	17	65907817	65907817	+	Missense_Mutation	SNP	A	A	G	rs200808758		TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr17:65907817A>G	ENST00000321892.4	+	13	4256	c.4195A>G	c.(4195-4197)Atg>Gtg	p.M1399V	BPTF_ENST00000335221.5_Missense_Mutation_p.M1399V|BPTF_ENST00000424123.3_Missense_Mutation_p.M1260V|BPTF_ENST00000306378.6_Missense_Mutation_p.M1273V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1399					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCAAGAGCAATGGACTTTGA	0.408													A|||	1	0.000199681	8e-04	0	5008	,	,		21683	0		0	False		,,,				2504	0					uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(3817-3819)Atg>Gtg		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							123	117	119					17																	65907817		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907817A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4195A>G	17.37:g.65907817A>G	ENSP00000315454:p.Met1399Val		Somatic				BPTF_uc002jge.3_Missense_Mutation_p.M1399V	p.M1273V	NM_182641	NP_872579	WXS	Illumina GAIIx	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	3878	+	all_cancers(12;6e-11)		1399					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.3817A>G		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	0.012	-1.675487	0.00751	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.60920	0.15;0.15;0.16	5.61	-10.1	0.00402	.	.	.	.	.	T	0.22975	0.0555	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40627	-0.9553	9	0.05525	T	0.97	0.9675	14.2709	0.66152	0.252:0.0:0.6484:0.0996	.	1273;1399	Q12830-2;Q12830-4	.;.	V	1273;1399;1399	ENSP00000307208:M1273V;ENSP00000334351:M1399V;ENSP00000315454:M1399V	ENSP00000307208:M1273V	M	+	1	0	BPTF	63338279	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-4.746000	0.00191	-2.753000	0.00373	-0.280000	0.10049	ATG		0.408	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		65	157	0	0	0	1	0	65	157					G	65907817	A	G	65907817	3	3	123	1	0	0	0	0	1	0	0	0	1495	101	4	3	4245	3	BPTF	17	65907817	Missense_Mutation	SNP	A	TCGA-DJ-A3VJ-01A-11D-A23M-08		65907817	15287393	6	2140											
ANGPTL4	51129	broad.mit.edu	37	19	8436239	8436239	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3VJ-01A-11D-A23M-08	TCGA-DJ-A3VJ-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9159100-2b88-4427-a998-18128c25c730	4438cf9f-5bf6-4dc8-9c2e-5b3e30849310	g.chr19:8436239T>A	ENST00000301455.2	+	6	1043	c.872T>A	c.(871-873)gTg>gAg	p.V291E	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.V253E|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.V124E	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	291	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		V -> M. {ECO:0000269|PubMed:17322881}.		angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGTTCTCCGTGCACCTGGGT	0.687																																						uc002mjq.1																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(871-873)gTg>gAg		Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.							54	47	49					19																	8436239		2203	4299	6502	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8436239T>A	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.872T>A	19.37:g.8436239T>A	ENSP00000301455:p.Val291Glu		Somatic				ANGPTL4_uc002mjr.1_Missense_Mutation_p.V253E|ANGPTL4_uc010xkc.1_Missense_Mutation_p.V124E	p.V291E	NM_139314	NP_647475	WXS	Illumina GAIIx	Phase_I	Q9BY76	ANGL4_HUMAN			5	1067	+			291		V -> M.	Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.872T>A	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.158637	0.38119	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.21191	2.02;2.02;2.02	5.09	4.07	0.47477	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.423773	0.27327	N	0.019875	T	0.18923	0.0454	L	0.39898	1.24	0.27482	N	0.952556	P;P	0.38455	0.632;0.459	B;B	0.39258	0.295;0.295	T	0.08166	-1.0735	10	0.87932	D	0	.	9.5591	0.39357	0.0:0.0842:0.0:0.9158	.	253;291	A8MY84;Q9BY76	.;ANGL4_HUMAN	E	291;253;124	ENSP00000301455:V291E;ENSP00000377534:V253E;ENSP00000439833:V124E	ENSP00000301455:V291E	V	+	2	0	ANGPTL4	8342239	0.978000	0.34361	0.195000	0.23364	0.013000	0.08279	5.723000	0.68492	0.791000	0.33826	0.454000	0.30748	GTG		0.687	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		16	53	0	0	0	1	0	16	53					A	8436239	T	A	8436239	3	1	123	1	0	0	0	0	1	0	0	0	616	1696	59	5	894	5	ANGPTL4	19	8436239	Missense_Mutation	SNP	T	TCGA-DJ-A3VJ-01A-11D-A23M-08		8436239	50692744	7	2141											
KCND3	3752	broad.mit.edu	37	1	112524826	112524826	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr1:112524826T>C	ENST00000315987.2	-	2	1002	c.523A>G	c.(523-525)Aac>Gac	p.N175D	KCND3_ENST00000302127.4_Missense_Mutation_p.N175D|KCND3_ENST00000369697.1_Missense_Mutation_p.N175D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	175					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTGTGGGGGTTCTCGAAGGCC	0.627																																						uc001ebu.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(523-525)Aac>Gac		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.							47	44	45					1																	112524826		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524826T>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.523A>G	1.37:g.112524826T>C	ENSP00000319591:p.Asn175Asp		Somatic				KCND3_uc001ebv.1_Missense_Mutation_p.N175D	p.N175D	NM_004980	NP_004971	WXS	Illumina GAIIx	Phase_I	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	1003	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	175					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.523A>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843455	0.51057	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96885	-4.16;-4.16;-4.16	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	L	0.47190	1.495	0.80722	D	1	B;B	0.18310	0.027;0.027	B;B	0.20184	0.028;0.028	D	0.90113	0.4193	10	0.52906	T	0.07	.	15.2726	0.73717	0.0:0.0:0.0:1.0	.	175;175	Q14D71;Q9UK17	.;KCND3_HUMAN	D	175	ENSP00000358711:N175D;ENSP00000319591:N175D;ENSP00000306923:N175D	ENSP00000306923:N175D	N	-	1	0	KCND3	112326349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.139000	0.71728	2.094000	0.63399	0.460000	0.39030	AAC		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		9	44	0	0	0	1	0	9	44					C	112524826	T	C	112524826	3	2	124	1	0	0	0	0	1	0	0	0	8020	1783	62	3	1472	3	KCND3	1	112524826	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08		112524826	136725795	1	2142											
MRPS18C	51023	broad.mit.edu	37	4	84377236	84377236	+	Silent	SNP	C	C	T			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr4:84377236C>T	ENST00000295491.4	+	1	119	c.6C>T	c.(4-6)gcC>gcT	p.A2A	HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_5'Flank|MRPS18C_ENST00000507349.1_Silent_p.A2A|MRPS18C_ENST00000507019.1_Silent_p.A2A|HELQ_ENST00000295488.3_5'Flank	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	2					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)				GAACCATGGCCGCTGTGGTTG	0.562																																						uc003hor.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(4-6)gcC>gcT		Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA.							189	196	194					4																	84377236		2203	4300	6503	SO:0001819	synonymous_variant	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84377236C>T		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"Mitochondrial ribosomal proteins / small subunits"	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.6C>T	4.37:g.84377236C>T			Somatic				HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank	p.A2A	NM_016067	NP_057151	WXS	Illumina GAIIx	Phase_I	Q9Y3D5	RT18C_HUMAN			0	119	+		Hepatocellular(203;0.114)	2						Silent	SNP	ENST00000295491.4	37	c.6C>T	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	5.072	0.199022	0.09652	.	.	ENSG00000163319	ENST00000509970	.	.	.	5.02	-10.0	0.00425	.	.	.	.	.	T	0.40670	0.1126	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.77574	-0.2537	4	.	.	.	-12.2571	2.1703	0.03847	0.137:0.2559:0.3103:0.2968	.	.	.	.	C	1	.	.	R	+	1	0	MRPS18C	84596260	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.587000	0.00060	-9.921000	0.00000	-1.812000	0.00611	CGC		0.562	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			37	169	0	0	0	1	0	37	169					T	84377236	C	T	84377236	2	4	124	1	0	0	0	0	0	0	0	1	9830	639	23	1		1	MRPS18C	4	84377236	Silent	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		84377236	106777040	2	2143											
RAI14	26064	broad.mit.edu	37	5	34808710	34808710	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:34808710C>A	ENST00000265109.3	+	7	688	c.401C>A	c.(400-402)gCt>gAt	p.A134D	RAI14_ENST00000512629.1_Missense_Mutation_p.A134D|RAI14_ENST00000503673.1_Missense_Mutation_p.A134D|RAI14_ENST00000397449.1_Missense_Mutation_p.A127D|RAI14_ENST00000515799.1_Missense_Mutation_p.A137D|RAI14_ENST00000428746.2_Missense_Mutation_p.A134D|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.A126D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	134						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)					TGCCTTCAAGCTGTGCAGATT	0.478																																						uc003jis.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.(409-411)gCt>gAt		Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.							122	109	113					5																	34808710		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34808710C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.401C>A	5.37:g.34808710C>A	ENSP00000265109:p.Ala134Asp		Somatic				RAI14_uc003jir.3_Missense_Mutation_p.A134D|RAI14_uc010iur.3_Missense_Mutation_p.A134D|RAI14_uc011coj.2_Missense_Mutation_p.A134D|RAI14_uc010ius.1_Missense_Mutation_p.A63D|RAI14_uc003jit.3_Missense_Mutation_p.A134D|RAI14_uc011cok.2_Missense_Mutation_p.A126D	p.A137D	NM_001145525	NP_001138997	WXS	Illumina GAIIx	Phase_I	Q9P0K7	RAI14_HUMAN			8	949	+	all_lung(31;0.000191)		134					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.410C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276087	0.59649	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.16;-0.26;-0.26;-0.26;-0.26;-0.16;-0.26;-0.26	5.5	4.64	0.57946	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.71091	0.3299	M	0.70108	2.13	0.38192	D	0.939947	P;P;P;P	0.51147	0.879;0.942;0.903;0.942	B;P;P;P	0.51079	0.426;0.658;0.508;0.658	T	0.75682	-0.3233	9	0.59425	D	0.04	-1.5623	8.9142	0.35572	0.0:0.7728:0.1491:0.0781	.	126;134;137;134	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	D	134;134;134;134;134;137;134;126;127	ENSP00000265109:A134D;ENSP00000424879:A134D;ENSP00000422377:A134D;ENSP00000388725:A134D;ENSP00000422942:A134D;ENSP00000427123:A137D;ENSP00000425115:A134D;ENSP00000423854:A126D;ENSP00000380591:A127D	ENSP00000265109:A134D	A	+	2	0	RAI14	34844467	0.996000	0.38824	0.989000	0.46669	0.981000	0.71138	1.474000	0.35398	1.319000	0.45190	0.650000	0.86243	GCT		0.478	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		6	37	0	0	0	1	0	6	37					A	34808710	C	A	34808710	3	1	124	1	0	0	0	0	1	0	0	0	13008	797	28	4	488	4	RAI14	5	34808710	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		34808710	146106550	3	2144											
ZCCHC10	54819	broad.mit.edu	37	5	132342584	132342584	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr5:132342584G>C	ENST00000509437.1	-	3	143	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.Q24E			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	46							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGCATTTCTGACATCTTACA	0.338																																						uc003kyh.3																			0				skin(1)	1						c.(136-138)Cag>Gag		Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.							73	66	69					5																	132342584		2202	4300	6502	SO:0001583	missense	54819						nucleic acid binding|zinc ion binding	g.chr5:132342584G>C	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.136C>G	5.37:g.132342584G>C	ENSP00000423276:p.Gln46Glu		Somatic				ZCCHC10_uc003kyg.3_Missense_Mutation_p.Q24E|ZCCHC10_uc011cxl.2_Missense_Mutation_p.Q24E	p.Q46E	NM_017665	NP_060135	WXS	Illumina GAIIx	Phase_I	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	147	-			46					Q9NXR4	Missense_Mutation	SNP	ENST00000509437.1	37	c.136C>G		.	.	.	.	.	.	.	.	.	.	G	21.9	4.220386	0.79464	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.82	4.82	0.62117	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.86940	0.6054	.	.	.	0.80722	D	1	P;D;P	0.59357	0.954;0.985;0.954	D;D;D	0.73708	0.932;0.981;0.932	D	0.88956	0.3390	9	0.87932	D	0	.	18.2538	0.90012	0.0:0.0:1.0:0.0	.	24;46;24	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	E	24;46;46;24;46;24	ENSP00000324274:Q24E;ENSP00000347533:Q46E;ENSP00000423276:Q46E;ENSP00000427430:Q24E;ENSP00000422111:Q46E;ENSP00000421071:Q24E	ENSP00000324274:Q24E	Q	-	1	0	ZCCHC10	132370483	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.164000	0.94755	2.379000	0.81126	0.467000	0.42956	CAG		0.338	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		6	17	0	0	0	1	0	6	17					C	132342584	G	C	132342584	3	2	124	1	0	0	0	0	1	0	0	0	17576	1299	45	4	454	4	ZCCHC10	5	132342584	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08	97533874	132342584	48572676	4	2145											
BRAF	673	broad.mit.edu	37	7	140453140	140453163	+	In_Frame_Ins	INS	TAGCTAGACCAAAATCACCTATTT	TAGCTAGACCAAAATCACCTATTT	TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	rs121913337|rs397507483|rs121913363|rs121913341|rs121913366|rs121913338|rs121913361|rs121913362|rs55939351|rs121913225|rs397516896|rs121913368|rs121913369		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr7:140453140_140453163insTAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	ENST00000288602.6	-	15	1832_1855	c.1772_1795insAAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTA	c.(1771-1797)aaaataggtgattttggtctagcAAATAGGTGATTTTGGTCTAGCTAtaca>aaaataggtgattttggtctagcaAAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTAaataggtgattttggtctagctataca	p.599_599T>K*VILV*LK*VILV*LNR*FWSSYT		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> R (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D594G(35)|p.L597R(14)|p.L597V(11)|p.D594N(9)|p.L597S(9)|p.F595L(8)|p.L597Q(8)|p.A598_T599insV(6)|p.G596R(6)|p.I592M(4)|p.A598V(4)|p.L597L(3)|p.F595S(3)|p.D594V(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.D594D(1)|p.K591R(1)|p.G596fs*2(1)|p.A598T(1)|p.G593D(1)|p.G593S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GATTTCACTGTAGCTAGACCAAAATCACCTATTTTTACTGTGAG	0.366	G596R(NCIH508_LARGE_INTESTINE)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	G596R(NCIH508_LARGE_INTESTINE)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	137	Substitution - Missense(126)|Insertion - In frame(6)|Substitution - coding silent(4)|Deletion - Frameshift(1)	p.D594G(35)|p.L597R(30)|p.L597V(24)|p.L597S(22)|p.L597Q(21)|p.A598_T599insV(13)|p.D594N(9)|p.F595L(8)|p.A598V(8)|p.T599_V600insT(7)|p.L597L(6)|p.G596R(6)|p.T599I(5)|p.I592M(4)|p.F595S(3)|p.D594V(3)|p.T599_V600insTT(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.T599_V600>IAL(2)|p.L597_A598insT(2)|p.T599_R603>I(2)|p.T599T(2)|p.A598T(2)|p.D594D(1)|p.K591R(1)|p.T599_V600insDFGLAT(1)|p.G596fs*2(1)|p.T599_V600insV(1)|p.G593D(1)|p.D594_T599del(1)|p.G593S(1)	skin(54)|large_intestine(29)|lung(18)|thyroid(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(5)|cervix(3)|endometrium(3)|biliary_tract(2)|stomach(2)|autonomic_ganglia(1)|central_nervous_system(1)|NS(1)|prostate(1)|bone(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060877|CM060882|CM080112	BRAF	M	rs121913341	c.(1771-1797)aaaataggtgattttggtctagctaca>aAAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTAca		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)																																			SO:0001652	inframe_insertion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453140_140453163TAGCTAGACCAAAATCACCTATTT>TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1772_1795insAAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTA	7.37:g.140453140_140453163insTAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	ENSP00000288602:p.Thr599delinsLys*ValIleLeuVal*LeuLys*ValIleLeuVal*LeuAsnArg*PheTrpSerSerTyrThr		Somatic					p.598_599insKIGDFGLA	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1833_1856	-	Melanoma(164;0.00956)		598			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Ins	INS	ENST00000288602.6	37	c.1772_1795AAATAGGTGATTTTGGTCTAGCTA>AAATAGGTGATTTTGGTCTAGCTAAAATAGGTGATTTTGGTCTAGCTA	CCDS5863.1																																																																																				0.366	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	42						13	42	---	---	---	---	TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	140453163	TAGCTAGACCAAAATCACCTATTT	TAGCTAGACCAAAATCACCTATTTTAGCTAGACCAAAATCACCTATTT	140453140	7	5	124	1	0	1	1	0	0	0	0	0	1496	1638	57	0	521	0	BRAF	7	140453140	In_Frame_Ins	INS	TAGCTAGACCAAAATCACCTATTT	TCGA-DJ-A3VK-01A-11D-A23M-08		140453140	18685523	5	2146											
TAF1L	138474	broad.mit.edu	37	9	32634427	32634427	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:32634427C>A	ENST00000242310.4	-	1	1240	c.1151G>T	c.(1150-1152)gGc>gTc	p.G384V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	384					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGTTTGAAGCCATAGTCAAA	0.463																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1150-1152)gGc>gTc		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							242	226	231					9																	32634427		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	g.chr9:32634427C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1151G>T	9.37:g.32634427C>A	ENSP00000418379:p.Gly384Val		Somatic				AX747113_uc003zrh.1_Non-coding_Transcript	p.G384V	NM_153809	NP_722516	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	1241	-			384					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1151G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064317	0.55432	.	.	ENSG00000122728	ENST00000242310	T	0.69926	-0.44	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76626	-0.2890	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	384	Q8IZX4	TAF1L_HUMAN	V	384	ENSP00000418379:G384V	ENSP00000418379:G384V	G	-	2	0	TAF1L	32624427	1.000000	0.71417	0.989000	0.46669	0.435000	0.31806	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	GGC		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			35	146	0	0	0	1	0	35	146					A	32634427	C	A	32634427	3	1	124	1	0	0	0	0	1	0	0	0	15520	739	26	4	4333	4	TAF1L	9	32634427	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		32634427	108579004	6	2147											
TMEM203	94107	broad.mit.edu	37	9	140099754	140099754	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr9:140099754T>C	ENST00000343666.5	-	1	336	c.113A>G	c.(112-114)gAt>gGt	p.D38G	NDOR1_ENST00000371521.4_5'Flank|TMEM203_ENST00000537254.1_Missense_Mutation_p.D38G|NDOR1_ENST00000458322.2_5'Flank|NDOR1_ENST00000427047.2_5'Flank|TPRN_ENST00000541945.1_5'Flank|NDOR1_ENST00000344894.5_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	38						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCAGGCCATCCACACGCAG	0.637																																						uc004clv.3																			0				central_nervous_system(1)|kidney(1)	2						c.(112-114)gAt>gGt		Homo sapiens transmembrane protein 203 (TMEM203), mRNA.							45	47	46					9																	140099754		2200	4289	6489	SO:0001583	missense	94107					integral to membrane		g.chr9:140099754T>C	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"HBeAg-binding protein 1"					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.113A>G	9.37:g.140099754T>C	ENSP00000375053:p.Asp38Gly		Somatic				NDOR1_uc004clx.3_5'Flank|NDOR1_uc004clw.3_5'Flank|NDOR1_uc011mes.2_5'Flank|NDOR1_uc004cly.3_5'Flank	p.D38G	NM_053045	NP_444273	WXS	Illumina GAIIx	Phase_I	Q969S6	TM203_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	0	337	-	all_cancers(76;0.0926)		38					Q6NW08	Missense_Mutation	SNP	ENST00000343666.5	37	c.113A>G	CCDS35185.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995212	0.74703	.	.	ENSG00000187713	ENST00000343666;ENST00000537254	T;T	0.33216	1.42;1.42	3.96	2.81	0.32909	.	0.000000	0.64402	U	0.000002	T	0.39358	0.1075	L	0.45285	1.41	0.53688	D	0.999978	D	0.67145	0.996	D	0.64144	0.922	T	0.13899	-1.0492	10	0.62326	D	0.03	.	6.8824	0.24181	0.0:0.1101:0.0:0.8899	.	38	Q969S6	TM203_HUMAN	G	38	ENSP00000375053:D38G;ENSP00000446302:D38G	ENSP00000375053:D38G	D	-	2	0	TMEM203	139219575	1.000000	0.71417	0.990000	0.47175	0.780000	0.44128	7.602000	0.82796	0.583000	0.29574	0.533000	0.62120	GAT		0.637	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		3	20	0	0	0	1	0	3	20					C	140099754	T	C	140099754	3	2	124	1	0	0	0	0	1	0	0	0	16125	1435	50	3	301	3	TMEM203	9	140099754	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08	107465327	140099754	1113677	7	2148											
ZNF438	220929	broad.mit.edu	37	10	31138963	31138963	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr10:31138963T>C	ENST00000361310.3	-	6	700	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF438_ENST00000444692.2_Missense_Mutation_p.Y114C|ZNF438_ENST00000331737.6_Missense_Mutation_p.Y114C|ZNF438_ENST00000442986.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000452305.1_Missense_Mutation_p.Y114C|ZNF438_ENST00000538351.2_Missense_Mutation_p.Y75C|ZNF438_ENST00000413025.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_Missense_Mutation_p.Y124C			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	124					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGGGGGTTGATATCTAGGAAT	0.448																																						uc010qdz.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(370-372)tAt>tGt		Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.							156	167	164					10																	31138963		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138963T>C	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.371A>G	10.37:g.31138963T>C	ENSP00000354663:p.Tyr124Cys		Somatic				ZNF438_uc001ivn.3_Missense_Mutation_p.Y75C|ZNF438_uc010qdy.2_Missense_Mutation_p.Y114C|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Missense_Mutation_p.Y124C|ZNF438_uc001ivp.4_Missense_Mutation_p.Y114C|ZNF438_uc010qea.2_Missense_Mutation_p.Y124C|ZNF438_uc010qeb.2_Missense_Mutation_p.Y124C|ZNF438_uc010qec.1_Intron	p.Y124C	NM_182755	NP_001137241	WXS	Illumina GAIIx	Phase_I	Q7Z4V0	ZN438_HUMAN			6	806	-		Prostate(175;0.0587)	124					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.371A>G	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288395	0.80803	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.63	5.63	0.86233	.	0.054254	0.85682	D	0.000000	T	0.76521	0.3999	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79921	-0.1599	10	0.87932	D	0	-27.2982	15.0111	0.71550	0.0:0.0:0.0:1.0	.	124;114	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	C	114;124;124;124;124;114;114;75	ENSP00000333571:Y114C;ENSP00000354663:Y124C;ENSP00000406934:Y124C;ENSP00000412363:Y124C;ENSP00000387546:Y124C;ENSP00000413060:Y114C;ENSP00000410898:Y114C;ENSP00000445461:Y75C	ENSP00000333571:Y114C	Y	-	2	0	ZNF438	31178969	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	5.664000	0.68045	2.144000	0.66660	0.533000	0.62120	TAT		0.448	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		7	100	0	0	0	1	0	7	100					C	31138963	T	C	31138963	3	2	124	1	0	0	0	0	1	0	0	0	17907	1406	49	3	2123	3	ZNF438	10	31138963	Missense_Mutation	SNP	T	TCGA-DJ-A3VK-01A-11D-A23M-08		31138963	104395784	8	2149											
OR51E2	81285	broad.mit.edu	37	11	4703767	4703767	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:4703767A>G	ENST00000396950.3	-	2	414	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	59					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAAAGAGGTACATCGGAGCG	0.512																																						uc001lzk.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(175-177)Tac>Cac		Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.							116	97	103					11																	4703767		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703767A>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.175T>C	11.37:g.4703767A>G	ENSP00000380153:p.Tyr59His		Somatic				OR51E2_uc021qcr.1_Missense_Mutation_p.Y59H	p.Y59H	NM_030774	NP_110401	WXS	Illumina GAIIx	Phase_I	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	419	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	59					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.175T>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018495	0.75275	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.15487	2.42;2.42	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000756	T	0.47948	0.1473	M	0.89214	3.015	0.51233	D	0.999919	D	0.89917	1.0	D	0.91635	0.999	T	0.57423	-0.7814	10	0.87932	D	0	.	13.681	0.62484	1.0:0.0:0.0:0.0	.	59	Q9H255	O51E2_HUMAN	H	59	ENSP00000380153:Y59H;ENSP00000432644:Y59H	ENSP00000380153:Y59H	Y	-	1	0	OR51E2	4660343	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.050000	0.76620	2.112000	0.64535	0.533000	0.62120	TAC		0.512	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		7	86	0	0	0	1	0	7	86					G	4703767	A	G	4703767	3	3	124	1	0	0	0	0	1	0	0	0	11095	391	14	3	791	3	OR51E2	11	4703767	Missense_Mutation	SNP	A	TCGA-DJ-A3VK-01A-11D-A23M-08		4703767	130302749	9	2150											
ARCN1	372	broad.mit.edu	37	11	118455206	118455206	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr11:118455206C>T	ENST00000264028.4	+	5	760	c.665C>T	c.(664-666)cCc>cTc	p.P222L	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.P263L|ARCN1_ENST00000392859.3_Missense_Mutation_p.P134L	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	222					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTTCAGGCCCCAGCAAGGCT	0.393																																						uc009zag.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(787-789)cCc>cTc		Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.							52	51	52					11																	118455206		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol		g.chr11:118455206C>T	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.665C>T	11.37:g.118455206C>T	ENSP00000264028:p.Pro222Leu		Somatic				ARCN1_uc001ptq.3_Missense_Mutation_p.P222L|ARCN1_uc010ryg.2_Missense_Mutation_p.P134L	p.P263L	NM_001142281	NP_001135753	WXS	Illumina GAIIx	Phase_I	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	5	990	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	222					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.788C>T	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777276	0.70107	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.52057	0.68;0.68;0.68	5.65	5.65	0.86999	.	0.051399	0.85682	D	0.000000	T	0.46776	0.1410	L	0.50333	1.59	0.80722	D	1	B;B;B	0.20459	0.016;0.045;0.001	B;B;B	0.18263	0.004;0.021;0.004	T	0.30001	-0.9993	10	0.37606	T	0.19	-2.7327	19.3272	0.94267	0.0:1.0:0.0:0.0	.	134;263;222	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	L	134;263;222	ENSP00000376599:P134L;ENSP00000352385:P263L;ENSP00000264028:P222L	ENSP00000264028:P222L	P	+	2	0	ARCN1	117960416	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.431000	0.80335	2.668000	0.90789	0.655000	0.94253	CCC		0.393	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			5	29	0	0	0	1	0	5	29					T	118455206	C	T	118455206	3	4	124	1	0	0	0	0	1	0	0	0	842	623	22	2	683	2	ARCN1	11	118455206	Missense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08	113751439	118455206	16551310	10	2151											
C12orf66	144577	broad.mit.edu	37	12	64587880	64587880	+	Silent	SNP	G	G	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr12:64587880G>A	ENST00000398055.3	-	3	1133	c.1080C>T	c.(1078-1080)caC>caT	p.H360H	C12orf66_ENST00000311915.8_Silent_p.H360H|C12orf66_ENST00000544871.1_Silent_p.H307H	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	360										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CATTGGGCCAGTGCATGACTG	0.522																																						uc001srw.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(1078-1080)caC>caT		Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.							102	98	99					12																	64587880		1990	4178	6168	SO:0001819	synonymous_variant	144577							g.chr12:64587880G>A		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1080C>T	12.37:g.64587880G>A			Somatic					p.H360H	NM_152440	NP_689653	WXS	Illumina GAIIx	Phase_I	Q96MD2	CL066_HUMAN			2	1139	-			360					C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	37	c.1080C>T	CCDS41803.1																																																																																				0.522	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		9	112	0	0	0	1	0	9	112					A	64587880	G	A	64587880	2	1	124	1	0	0	0	0	0	0	0	1	1709	1020	36	2		2	C12orf66	12	64587880	Silent	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		64587880	69264015	11	2152											
KIAA0391	9692	broad.mit.edu	37	14	35742769	35742769	+	Silent	SNP	A	A	G			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:35742769A>G	ENST00000557565.1	+	8	2130	c.1749A>G	c.(1747-1749)acA>acG	p.T583T	KIAA0391_ENST00000604948.1_Silent_p.T488T|KIAA0391_ENST00000603544.1_Silent_p.T567T|KIAA0391_ENST00000534898.4_Silent_p.T583T|KIAA0391_ENST00000321130.10_Silent_p.T567T|KIAA0391_ENST00000250377.7_Silent_p.T488T|KIAA0391_ENST00000605870.1_Silent_p.T211T	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	583					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ACCAAAAGACATAGAGATTCT	0.453																																						uc001wsy.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1747-1749)acA>acG		Homo sapiens KIAA0391 (KIAA0391), mRNA.							100	87	92					14																	35742769		2203	4300	6503	SO:0001819	synonymous_variant	9692				tRNA processing	mitochondrion		g.chr14:35742769A>G	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1749A>G	14.37:g.35742769A>G			Somatic				KIAA0391_uc010tps.1_Silent_p.T488T|KIAA0391_uc001wsz.1_Silent_p.T567T|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Silent_p.T211T	p.T583T	NM_014672	NP_055487	WXS	Illumina GAIIx	Phase_I	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	7	2109	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		583					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	c.1749A>G	CCDS32063.1																																																																																				0.453	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		4	41	0	0	0	1	0	4	41					G	35742769	A	G	35742769	2	3	124	1	0	0	0	0	0	0	0	1	8172	204	8	3		3	KIAA0391	14	35742769	Silent	SNP	A	TCGA-DJ-A3VK-01A-11D-A23M-08		35742769	71606771	12	2153											
KIAA1409	57578	broad.mit.edu	37	14	94158128	94158128	+	Missense_Mutation	SNP	G	G	A	rs369445399		TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr14:94158128G>A	ENST00000393151.2	+	47	7423	c.7423G>A	c.(7423-7425)Gcg>Acg	p.A2475T	UNC79_ENST00000256339.4_Missense_Mutation_p.A2298T|UNC79_ENST00000555664.1_Missense_Mutation_p.A2436T|UNC79_ENST00000553484.1_Missense_Mutation_p.A2497T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2475					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)				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						CCTCTTCCACGCGTTCATCTT	0.527																																						uc001ybv.1																			0				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.(6958-6960)Gcg>Acg		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.		G	THR/ALA	0,4406		0,0,2203	133	111	119		6892	5.8	0.8	14		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC79	NM_020818.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2298/2459	94158128	1,13005	2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94158128G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7423G>A	14.37:g.94158128G>A	ENSP00000376858:p.Ala2475Thr		Somatic				UNC79_uc001ybs.1_Missense_Mutation_p.A2298T	p.A2320T	NM_020818	NP_065869	WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			44	7041	+			2475					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6958G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.467503	0.84533	0.0	1.16E-4	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27104	1.69;1.73;1.69;1.69	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.60845	1.875	0.80722	D	1	B	0.28850	0.225	B	0.28011	0.085	T	0.06661	-1.0814	10	0.62326	D	0.03	-4.428	20.0321	0.97543	0.0:0.0:1.0:0.0	.	2497	C9JQL1	.	T	2298;2436;2497;2475;2497	ENSP00000256339:A2298T;ENSP00000450868:A2436T;ENSP00000451360:A2497T;ENSP00000376858:A2475T	ENSP00000256339:A2298T	A	+	1	0	KIAA1409	93227881	1.000000	0.71417	0.785000	0.31869	0.971000	0.66376	9.808000	0.99193	2.728000	0.93425	0.655000	0.94253	GCG		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		9	93	0	0	0	1	0	9	93					A	94158128	G	A	94158128	3	1	124	1	0	0	0	0	1	0	0	0	8230	1087	38	1	7066	1	KIAA1409	14	94158128	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08	58415359	94158128	13191412	13	2154											
SNX20	124460	broad.mit.edu	37	16	50707544	50707544	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr16:50707544G>A	ENST00000330943.4	-	4	895	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	242					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						TCGGCGGGGCGGTCGAGGTCG	0.756																																						uc002egk.2																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(724-726)Cgc>Tgc		Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.																																				SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707544G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.724C>T	16.37:g.50707544G>A	ENSP00000332062:p.Arg242Cys		Somatic				SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	p.R242C	NM_182854	NP_878274	WXS	Illumina GAIIx	Phase_I	Q7Z614	SNX20_HUMAN			3	897	-			242					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.724C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502777	0.44558	.	.	ENSG00000167208	ENST00000330943	T	0.68331	-0.32	5.78	2.76	0.32466	.	0.529691	0.20997	N	0.081932	T	0.56514	0.1990	M	0.63428	1.95	0.20563	N	0.99989	B	0.19935	0.04	B	0.12837	0.008	T	0.54536	-0.8279	10	0.62326	D	0.03	-12.7786	2.3569	0.04298	0.1463:0.1218:0.4538:0.2781	.	242	Q7Z614	SNX20_HUMAN	C	242	ENSP00000332062:R242C	ENSP00000332062:R242C	R	-	1	0	SNX20	49265045	0.836000	0.29430	0.125000	0.21846	0.502000	0.33828	1.158000	0.31737	0.370000	0.24538	0.561000	0.74099	CGC		0.756	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		5	18	0	0	0	1	0	5	18					A	50707544	G	A	50707544	3	1	124	1	0	0	0	0	1	0	0	0	14892	1116	39	1	373	1	SNX20	16	50707544	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		50707544	39647209	14	2155											
XYLT2	64132	broad.mit.edu	37	17	48431804	48431804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr17:48431804C>T	ENST00000017003.2	+	3	713	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	XYLT2_ENST00000507602.1_Nonsense_Mutation_p.Q222*	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	222					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGATGAGAGCCAAGCCCAGCA	0.657																																						uc002iqo.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(664-666)Caa>Taa		Homo sapiens xylosyltransferase II (XYLT2), mRNA.							33	35	34					17																	48431804		2203	4300	6503	SO:0001587	stop_gained	64132				glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431804C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.664C>T	17.37:g.48431804C>T	ENSP00000017003:p.Gln222*		Somatic				XYLT2_uc010dbo.3_Non-coding_Transcript	p.Q222*	NM_022167	NP_071450	WXS	Illumina GAIIx	Phase_I	Q9H1B5	XYLT2_HUMAN			2	773	+	Breast(11;7.18e-19)		222					Q6UY41|Q86V00	Nonsense_Mutation	SNP	ENST00000017003.2	37	c.664C>T	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925785	0.52759	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	.	.	.	4.48	3.45	0.39498	.	0.715268	0.14186	N	0.335684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-10.7424	13.9256	0.63961	0.1521:0.8479:0.0:0.0	.	.	.	.	X	222	.	ENSP00000017003:Q222X	Q	+	1	0	XYLT2	45786803	0.000000	0.05858	0.533000	0.28001	0.443000	0.32047	-0.027000	0.12371	2.315000	0.78130	0.313000	0.20887	CAA		0.657	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		7	40	0	0	0	1	0	7	40					T	48431804	C	T	48431804	4	4	124	1	0	0	0	0	0	1	0	0	17461	595	21	2	674	2	XYLT2	17	48431804	Nonsense_Mutation	SNP	C	TCGA-DJ-A3VK-01A-11D-A23M-08		48431804	32763406	15	2156											
TMEM49	81671	broad.mit.edu	37	17	57915689	57915689	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr17:57915689G>C	ENST00000262291.4	+	11	1318	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	VMP1_ENST00000537567.1_Missense_Mutation_p.K202N|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000536180.1_Missense_Mutation_p.K239N|VMP1_ENST00000539763.1_Missense_Mutation_p.K144N|VMP1_ENST00000545362.1_Missense_Mutation_p.K280N	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	336					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTCTGCAGAAGCCATTTCAGG	0.493																																						uc002ixu.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(1006-1008)aaG>aaC		Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.							86	82	84					17																	57915689		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57915689G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1008G>C	17.37:g.57915689G>C	ENSP00000262291:p.Lys336Asn		Somatic				VMP1_uc010wog.2_Missense_Mutation_p.K144N|VMP1_uc010woh.2_Missense_Mutation_p.K280N|VMP1_uc010woi.2_Missense_Mutation_p.K239N|VMP1_uc010woj.2_Missense_Mutation_p.K202N|MIR21_uc002ixv.3_5'Flank	p.K336N	NM_030938	NP_112200	WXS	Illumina GAIIx	Phase_I	Q96GC9	VMP1_HUMAN			10	1281	+			336					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.1008G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854319	0.71719	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.95	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.54908	1.71	0.80722	D	1	B;D;D;P	0.64830	0.169;0.97;0.994;0.594	B;P;P;B	0.62184	0.092;0.775;0.899;0.234	T	0.59506	-0.7442	9	0.22109	T	0.4	-14.1003	9.0778	0.36534	0.3114:0.0:0.6886:0.0	.	202;239;280;336	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	N	336;202;144;239;280	.	ENSP00000262291:K336N	K	+	3	2	VMP1	55270471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.382000	0.52463	1.518000	0.48934	0.650000	0.86243	AAG		0.493	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		10	52	0	0	0	1	0	10	52					C	57915689	G	C	57915689	3	2	124	1	0	0	0	0	1	0	0	0	16170	962	34	4	1046	4	TMEM49	17	57915689	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08	9483885	57915689	23279521	16	2157											
PRDM15	63977	broad.mit.edu	37	21	43259762	43259762	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr21:43259762G>C	ENST00000269844.3	-	14	2049	c.1939C>G	c.(1939-1941)Cta>Gta	p.L647V	PRDM15_ENST00000398548.1_Missense_Mutation_p.L318V|PRDM15_ENST00000447207.2_Missense_Mutation_p.L281V|PRDM15_ENST00000538201.1_Missense_Mutation_p.L281V|PRDM15_ENST00000422911.1_Missense_Mutation_p.L318V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACGATGACTAGAGGCTGCTCA	0.617																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(1939-1941)Cta>Gta		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							168	164	165					21																	43259762		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43259762G>C	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1939C>G	21.37:g.43259762G>C	ENSP00000269844:p.Leu647Val		Somatic				PRDM15_uc002yzo.3_Missense_Mutation_p.L318V|PRDM15_uc002yzp.3_Missense_Mutation_p.L318V|PRDM15_uc002yzr.1_Missense_Mutation_p.L318V	p.L647V	NM_022115	NP_071398	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			13	2050	-			647					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1939C>G	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833905	0.32421	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.08720	3.14;3.14;3.15;3.14;3.06	4.67	2.72	0.32119	.	.	.	.	.	T	0.07098	0.0180	L	0.31294	0.92	0.33270	D	0.56089	B;B;B	0.21071	0.051;0.007;0.003	B;B;B	0.14023	0.01;0.004;0.002	T	0.07195	-1.0785	9	0.52906	T	0.07	-3.6198	10.5143	0.44881	0.0763:0.1331:0.7906:0.0	.	647;318;318	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	318;318;281;281;647;281	ENSP00000408592:L318V;ENSP00000381556:L318V;ENSP00000444044:L281V;ENSP00000390245:L281V;ENSP00000269844:L647V	ENSP00000269844:L647V	L	-	1	2	PRDM15	42132831	0.650000	0.27331	0.229000	0.23960	0.291000	0.27294	2.824000	0.48088	1.099000	0.41499	0.591000	0.81541	CTA		0.617	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		12	253	0	0	0	1	0	12	253					C	43259762	G	C	43259762	3	2	124	1	0	0	0	0	1	0	0	0	12456	933	33	4	2656	4	PRDM15	21	43259762	Missense_Mutation	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		43259762	4870133	17	2158											
RNF215	200312	broad.mit.edu	37	22	30776280	30776280	+	Silent	SNP	G	G	A			TCGA-DJ-A3VK-01A-11D-A23M-08	TCGA-DJ-A3VK-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8f26be4-e2af-4f97-a57f-ed36defb74b5	d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9	g.chr22:30776280G>A	ENST00000382363.3	-	6	929	c.855C>T	c.(853-855)ctC>ctT	p.L285L	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	285						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCTGGCCTCCGAGCTCCCGCT	0.687																																						uc003ahp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(853-855)ctC>ctT		Homo sapiens ring finger protein 215 (RNF215), mRNA.							29	35	33					22																	30776280		2202	4296	6498	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776280G>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.855C>T	22.37:g.30776280G>A			Somatic				RNF215_uc011akw.2_Silent_p.L190L	p.L285L	NM_001017981	NP_001017981	WXS	Illumina GAIIx	Phase_I	Q9Y6U7	RN215_HUMAN			5	855	-			285					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.855C>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	G	6.709	0.499460	0.12762	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.94	-7.88	0.01178	.	.	.	.	.	T	0.38321	0.1036	.	.	.	0.38082	D	0.936703	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-41.4287	5.0027	0.14273	0.1503:0.3115:0.4355:0.1027	.	.	.	.	W	223	.	.	R	-	1	2	RNF215	29106280	0.000000	0.05858	0.505000	0.27651	0.840000	0.47671	-1.671000	0.01954	-2.751000	0.00374	-0.304000	0.09214	CGG		0.687	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		9	47	0	0	0	1	0	9	47					A	30776280	G	A	30776280	2	1	124	1	0	0	0	0	0	0	0	1	13479	1045	37	1		1	RNF215	22	30776280	Silent	SNP	G	TCGA-DJ-A3VK-01A-11D-A23M-08		30776280	20528286	18	2159											
NTSR2	23620	broad.mit.edu	37	2	11809697	11809697	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr2:11809697G>A	ENST00000306928.5	-	1	593	c.559C>T	c.(559-561)Ccg>Tcg	p.P187S		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	187					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCGGGCTCCGGCTCCCCGTCC	0.711																																						uc002rbq.4																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(559-561)Ccg>Tcg		Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	Levocabastine(DB01106)						9	10	10					2																	11809697		1785	3549	5334	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11809697G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.559C>T	2.37:g.11809697G>A	ENSP00000303686:p.Pro187Ser		Somatic					p.P187S	NM_012344	NP_036476	WXS	Illumina GAIIx	Phase_I	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	0	633	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		187					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.559C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	5.733	0.319636	0.10845	.	.	ENSG00000169006	ENST00000306928	T	0.37752	1.18	3.24	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.245759	0.21264	N	0.077438	T	0.22513	0.0543	L	0.39566	1.225	0.09310	N	1	B	0.18166	0.026	B	0.25614	0.062	T	0.23583	-1.0184	10	0.07990	T	0.79	-21.6494	4.7668	0.13135	0.125:0.2228:0.6521:0.0	.	187	O95665	NTR2_HUMAN	S	187	ENSP00000303686:P187S	ENSP00000303686:P187S	P	-	1	0	NTSR2	11727148	0.030000	0.19436	0.012000	0.15200	0.136000	0.21042	1.593000	0.36686	0.952000	0.37798	0.555000	0.69702	CCG		0.711	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			13	22	0	0	0	1	0	13	22					A	11809697	G	A	11809697	3	1	125	1	0	0	0	0	1	0	0	0	10711	1203	42	2	689	2	NTSR2	2	11809697	Missense_Mutation	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08		11809697	231389676	1	2160											
RASA1	5921	broad.mit.edu	37	5	86676346	86676346	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr5:86676346G>C	ENST00000274376.6	+	20	3188	c.2624G>C	c.(2623-2625)gGg>gCg	p.G875A	RASA1_ENST00000512763.1_Missense_Mutation_p.G708A|RASA1_ENST00000506290.1_Missense_Mutation_p.G709A|RASA1_ENST00000456692.2_Missense_Mutation_p.G698A	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	875	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TATATTTATGGGTGTTTACAG	0.363																																						uc003kiw.3																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(2623-2625)gGg>gCg		Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.							154	152	153					5																	86676346		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding	g.chr5:86676346G>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2624G>C	5.37:g.86676346G>C	ENSP00000274376:p.Gly875Ala		Somatic				RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.G698A|RASA1_uc011ctv.2_Missense_Mutation_p.G708A|RASA1_uc011ctw.2_Missense_Mutation_p.G709A|RASA1_uc010jaw.3_Missense_Mutation_p.G697A	p.G875A	NM_002890	NP_002881	WXS	Illumina GAIIx	Phase_I	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	19	2823	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	875			Ras-GAP.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2624G>C	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045203	0.93685	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.53	5.53	0.82687	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	L	0.29908	0.895	0.80722	D	1	P;D;D;P;D	0.60575	0.899;0.988;0.978;0.943;0.976	P;P;P;P;P	0.59595	0.48;0.86;0.686;0.529;0.66	T	0.78107	-0.2333	10	0.33141	T	0.24	.	19.8241	0.96610	0.0:0.0:1.0:0.0	.	709;708;709;698;875	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	A	875;698;708;709	ENSP00000274376:G875A;ENSP00000411221:G698A;ENSP00000422008:G708A;ENSP00000420905:G709A	ENSP00000274376:G875A	G	+	2	0	RASA1	86712102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.587000	0.98229	2.758000	0.94735	0.655000	0.94253	GGG		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		21	49	0	0	0	1	0	21	49					C	86676346	G	C	86676346	3	2	125	1	0	0	0	0	1	0	0	0	13060	1232	43	4	2714	4	RASA1	5	86676346	Missense_Mutation	SNP	G	TCGA-DJ-A3VL-01A-11D-A23M-08		86676346	94238914	2	2161											
BRAF	673	broad.mit.edu	37	7	140477827	140477841	+	In_Frame_Del	DEL	TGCTGAGGTGTAGGT	TGCTGAGGTGTAGGT	-	rs375520366		TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr7:140477827_140477841delTGCTGAGGTGTAGGT	ENST00000288602.6	-	12	1527_1541	c.1467_1481delACCTACACCTCAGCA	c.(1465-1482)gcacctacacctcagcag>gcg	p.PTPQQ490del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGCTTGTAACTGCTGAGGTGTAGGTGCTGTCACAT	0.353		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	3	Complex - deletion inframe(2)|Deletion - In frame(1)	p.L485_P490>Y(4)|p.N486_P490del(3)	lung(2)|ovary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1465-1482)gcacctacacctcagcag>gcg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140477827_140477841delTGCTGAGGTGTAGGT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1467_1481delACCTACACCTCAGCA	7.37:g.140477827_140477841delTGCTGAGGTGTAGGT	ENSP00000288602:p.Pro490_Gln494del		Somatic					p.PTPQQ490del	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			11	1528_1542	-	Melanoma(164;0.00956)		490			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1467_1481delACCTACACCTCAGCA	CCDS5863.1																																																																																				0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		4	54						4	54	---	---	---	---	-	140477841	TGCTGAGGTGTAGGT	-	140477827	7	5	125	1	0	1	0	1	0	0	0	0	1496	1580	55	0	847	0	BRAF	7	140477827	In_Frame_Del	DEL	TGCTGAGGTGTAGGT	TCGA-DJ-A3VL-01A-11D-A23M-08		140477827	18660836	3	2162											
OGFOD2	79676	broad.mit.edu	37	12	123463748	123463748	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr12:123463748T>G	ENST00000228922.7	+	7	940	c.908T>G	c.(907-909)cTt>cGt	p.L303R	OGFOD2_ENST00000545612.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L139R|OGFOD2_ENST00000538755.1_Missense_Mutation_p.L139R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000397389.2_Missense_Mutation_p.L243R|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L139R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L139R|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000454885.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	303	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.						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)	CGTTGGAACCTTGTCGTCTGG	0.672																																						uc001uea.1																			0				breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(907-909)cTt>cGt		Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	Vitamin C(DB00126)						40	47	45					12																	123463748		2150	4240	6390	SO:0001583	missense	79676						L-ascorbic acid binding|iron ion 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.chr12:123463748T>G	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.908T>G	12.37:g.123463748T>G	ENSP00000228922:p.Leu303Arg		Somatic				OGFOD2_uc001uds.1_Missense_Mutation_p.L139R|OGFOD2_uc001udv.1_Missense_Mutation_p.L139R|OGFOD2_uc001udt.1_Missense_Mutation_p.L139R|OGFOD2_uc001udu.1_Missense_Mutation_p.L139R|OGFOD2_uc009zxs.1_Missense_Mutation_p.L139R|OGFOD2_uc001udw.1_Missense_Mutation_p.L139R|OGFOD2_uc001udy.1_Missense_Mutation_p.L139R|OGFOD2_uc001udz.1_Missense_Mutation_p.L243R|OGFOD2_uc001ueb.1_Missense_Mutation_p.L139R|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	p.L303R	NM_024623	NP_078899	WXS	Illumina GAIIx	Phase_I	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	6	929	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		303			Fe2OG dioxygenase.		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.908T>G		.	.	.	.	.	.	.	.	.	.	T	18.89	3.719043	0.68844	.	.	ENSG00000111325	ENST00000397389;ENST00000538755;ENST00000536150;ENST00000545056;ENST00000545612;ENST00000538628;ENST00000545317;ENST00000454694;ENST00000228922;ENST00000536439	D;T	0.92249	-3.0;0.59	5.14	5.14	0.70334	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97305	0.9933	10	0.87932	D	0	-19.7674	14.9552	0.71107	0.0:0.0:0.0:1.0	.	303;243	Q6N063;Q6N063-2	OGFD2_HUMAN;.	R	243;139;139;139;139;139;139;139;303;139	ENSP00000380544:L243R;ENSP00000228922:L303R	ENSP00000228922:L303R	L	+	2	0	OGFOD2	122029701	1.000000	0.71417	0.878000	0.34440	0.319000	0.28217	8.040000	0.89188	1.938000	0.56188	0.379000	0.24179	CTT		0.672	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		25	76	0	0	0	1	0	25	76					G	123463748	T	G	123463748	3	3	125	1	0	0	0	0	1	0	0	0	10842	1609	56	5	750	5	OGFOD2	12	123463748	Missense_Mutation	SNP	T	TCGA-DJ-A3VL-01A-11D-A23M-08		123463748	10388147	4	2163											
CYP4F11	57834	broad.mit.edu	37	19	16024590	16024590	+	Silent	SNP	C	C	T			TCGA-DJ-A3VL-01A-11D-A23M-08	TCGA-DJ-A3VL-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66d03960-71e2-415a-8527-b210e9f352d5	e0555f5b-ce59-4a73-af30-715b60087a4a	g.chr19:16024590C>T	ENST00000402119.4	-	12	1953	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000248041.8_Silent_p.E509E|CYP4F11_ENST00000591841.1_Silent_p.E184E	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAGTCCACCCTCTGCGCGCA	0.602																																						uc002nbu.2																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1525-1527)gaG>gaA		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.							60	55	57					19																	16024590		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024590C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1527G>A	19.37:g.16024590C>T			Somatic				CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.E509E	p.E509E	NM_001128932	NP_067010	WXS	Illumina GAIIx	Phase_I	Q9HBI6	CP4FB_HUMAN			12	1563	-			509						Silent	SNP	ENST00000402119.4	37	c.1527G>A	CCDS12337.1																																																																																				0.602	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		4	38	0	0	0	1	0	4	38					T	16024590	C	T	16024590	2	4	125	1	0	0	0	0	0	0	0	1	4186	680	24	2		2	CYP4F11	19	16024590	Silent	SNP	C	TCGA-DJ-A3VL-01A-11D-A23M-08		16024590	43104393	5	2164											
NUP133	55746	broad.mit.edu	37	1	229606430	229606430	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr1:229606430G>A	ENST00000261396.3	-	15	2064	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	NUP133_ENST00000537506.1_Missense_Mutation_p.S642F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	658					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGAAAGCCGGGAGTGGTGGTT	0.502																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1972-1974)tCc>tTc		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.							107	101	103					1																	229606430		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	g.chr1:229606430G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1973C>T	1.37:g.229606430G>A	ENSP00000261396:p.Ser658Phe		Somatic					p.S658F	NM_018230	NP_060700	WXS	Illumina GAIIx	Phase_I	Q8WUM0	NU133_HUMAN			14	2065	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	658					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1973C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663929	0.67700	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.25085	1.83;1.82;1.84	5.56	4.64	0.57946	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.269628	0.45361	D	0.000370	T	0.32466	0.0830	M	0.62723	1.935	0.46396	D	0.999023	P	0.47762	0.9	P	0.45712	0.491	T	0.14090	-1.0485	10	0.66056	D	0.02	-17.3599	12.3858	0.55330	0.0:0.1285:0.7379:0.1336	.	658	Q8WUM0	NU133_HUMAN	F	658;658;658;642	ENSP00000261396:S658F;ENSP00000355640:S658F;ENSP00000443496:S642F	ENSP00000261396:S658F	S	-	2	0	NUP133	227673053	1.000000	0.71417	0.520000	0.27837	0.932000	0.56968	2.935000	0.48963	1.465000	0.48006	-0.176000	0.13171	TCC		0.502	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		17	129	0	0	0	1	0	17	129					A	229606430	G	A	229606430	3	1	126	1	0	0	0	0	1	0	0	0	10754	1174	41	2	1545	2	NUP133	1	229606430	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		229606430	19644191	1	2165											
CNOT10	25904	broad.mit.edu	37	3	32778913	32778913	+	Missense_Mutation	SNP	A	A	G	rs201889112		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:32778913A>G	ENST00000328834.5	+	13	1842	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	CNOT10_ENST00000538368.1_Missense_Mutation_p.H281R|CNOT10_ENST00000454516.2_Missense_Mutation_p.H569R|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000331889.6_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	509				H -> Y (in Ref. 1; BAB14108). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGTAAAAGCCATGATGGAGAT	0.323													A|||	1	0.000199681	0	0	5008	,	,		19653	0		0.001	False		,,,				2504	0					uc011axj.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1705-1707)cAt>cGt		Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.							64	62	63					3																	32778913		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32778913A>G	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1526A>G	3.37:g.32778913A>G	ENSP00000330060:p.His509Arg		Somatic				CNOT10_uc011axi.1_Missense_Mutation_p.H281R|CNOT10_uc003cfc.1_Missense_Mutation_p.H509R|CNOT10_uc003cfd.1_Missense_Mutation_p.H508R|CNOT10_uc003cfe.1_Intron|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Missense_Mutation_p.H204R	p.H569R	NM_015442	NP_056257	WXS	Illumina GAIIx	Phase_I	Q9H9A5	CNOTA_HUMAN			12	1783	+			509					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1706A>G	CCDS2655.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.09	3.024334	0.54683	.	.	ENSG00000182973	ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T	0.41065	1.6;1.01;1.58	5.46	5.46	0.80206	.	0.047007	0.85682	D	0.000000	T	0.35799	0.0944	L	0.39898	1.24	0.58432	D	0.999998	B;B;B	0.24426	0.014;0.103;0.091	B;B;B	0.21917	0.006;0.037;0.024	T	0.10567	-1.0624	10	0.25106	T	0.35	-24.0666	15.5456	0.76097	1.0:0.0:0.0:0.0	.	569;508;509	F8WAF2;Q9H9A5-2;Q9H9A5	.;.;CNOTA_HUMAN	R	509;281;569;56	ENSP00000330060:H509R;ENSP00000442552:H281R;ENSP00000399862:H569R	ENSP00000330060:H509R	H	+	2	0	CNOT10	32753917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.722000	0.74735	2.068000	0.61886	0.533000	0.62120	CAT		0.323	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		36	75	0	0	0	1	0	36	75					G	32778913	A	G	32778913	3	3	126	1	0	0	0	0	1	0	0	0	3618	217	8	3	1576	3	CNOT10	3	32778913	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		32778913	165243517	2	2166											
SNRK	54861	broad.mit.edu	37	3	43345283	43345283	+	Splice_Site	SNP	A	A	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:43345283A>T	ENST00000296088.7	+	3	892	c.588A>T	c.(586-588)gtA>gtT	p.V196V	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Splice_Site_p.V196V|SNRK_ENST00000454177.1_Splice_Site_p.V196V|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CACCTGCAGTAGGTAGGTAAC	0.423																																						uc003cms.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.e3+1		Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.							96	90	92					3																	43345283		1880	4118	5998	SO:0001630	splice_region_variant	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43345283A>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.589+1A>T	3.37:g.43345283A>T			Somatic				SNRK_uc003cmt.4_Splice_Site_p.D197_splice|SNRK_uc010hik.3_Splice_Site_p.D197_splice|SNRK_uc011azr.2_Intron|SNRK_uc003cmu.3_Splice_Site_p.D197_splice	p.D197_splice	NM_017719	NP_060189	WXS	Illumina GAIIx	Phase_I	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	921	+			197			Protein kinase.			Splice_Site	SNP	ENST00000296088.7	37	c.589_splice	CCDS43075.1																																																																																				0.423	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	Silent	51	91	0	0	0	1	0	51	91					T	43345283	A	T	43345283	5	4	126	1	0	0	0	0	0	0	1	0	14851	434	15	5	590	5	SNRK	3	43345283	Splice_Site	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08	10566370	43345283	154677147	3	2167											
MYLK	4638	broad.mit.edu	37	3	123345769	123345769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:123345769G>A	ENST00000475616.1	-	28	5133	c.5134C>T	c.(5134-5136)Cag>Tag	p.Q1712*	MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Nonsense_Mutation_p.Q512*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q1712*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q1643*|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000360772.3_Nonsense_Mutation_p.Q1661*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q1661*|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1712	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAAGGCACTGCGTGCAGTCC	0.502																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5134-5136)Cag>Tag		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							110	90	97					3																	123345769		2203	4300	6503	SO:0001587	stop_gained	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345769G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5134C>T	3.37:g.123345769G>A	ENSP00000418335:p.Gln1712*		Somatic				MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Nonsense_Mutation_p.Q147*|MYLK_uc011bjv.2_Nonsense_Mutation_p.Q512*|MYLK_uc011bjw.2_Nonsense_Mutation_p.Q1712*|MYLK_uc003egp.3_Nonsense_Mutation_p.Q1643*|MYLK_uc003egq.3_Nonsense_Mutation_p.Q1661*|MYLK_uc003egr.3_Nonsense_Mutation_p.Q1592*|MYLK_uc003egs.3_Nonsense_Mutation_p.Q1536*	p.Q1712*	NM_053025	NP_444253	WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5416	-		Lung NSC(201;0.0496)	1712			Calmodulin-binding.|Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	c.5134C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	47	13.148124	0.99723	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	.	.	.	5.22	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7378	0.77859	0.0:0.1369:0.8631:0.0	.	.	.	.	X	1661;1712;1661;1643;512;1712	.	ENSP00000320622:Q1643X	Q	-	1	0	MYLK	124828459	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.300000	0.59079	1.408000	0.46895	0.591000	0.81541	CAG		0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	72	0	0	0	1	0	6	72					A	123345769	G	A	123345769	4	1	126	1	0	0	0	0	0	1	0	0	10056	1328	46	2	626	2	MYLK	3	123345769	Nonsense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08	80000486	123345769	74676661	4	2168											
KCNIP4	80333	broad.mit.edu	37	4	20751329	20751329	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:20751329A>C	ENST00000382152.2	-	5	552	c.385T>G	c.(385-387)Ttc>Gtc	p.F129V	KCNIP4_ENST00000509207.1_Missense_Mutation_p.F67V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F95V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F108V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382148.3_Missense_Mutation_p.F104V|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F67V	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	129	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AATGCATTGAACAGAAAATGT	0.358																																						uc021xmt.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(385-387)Ttc>Gtc		Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.							114	105	108					4																	20751329		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20751329A>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.385T>G	4.37:g.20751329A>C	ENSP00000371587:p.Phe129Val		Somatic				KCNIP4_uc003gqe.2_Missense_Mutation_p.F112V|KCNIP4_uc003gqf.1_Missense_Mutation_p.F108V|KCNIP4_uc003gqg.1_Missense_Mutation_p.F67V|KCNIP4_uc003gqh.1_Missense_Mutation_p.F104V|KCNIP4_uc003gqi.1_Missense_Mutation_p.F67V|KCNIP4_uc021xmu.1_Missense_Mutation_p.F95V|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.F92V	p.F129V	NM_025221	NP_671711	WXS	Illumina GAIIx	Phase_I	Q6PIL6	KCIP4_HUMAN			4	505	-		Breast(46;0.134)	129			EF-hand 2.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.385T>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693481	0.88735	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.69078	0.993;0.993;0.997;0.98	D;D;D;D	0.81914	0.987;0.987;0.995;0.985	T	0.75819	-0.3183	10	0.87932	D	0	.	14.7522	0.69533	1.0:0.0:0.0:0.0	.	104;108;112;129	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	104;95;108;67;129;67;67	ENSP00000371583:F104V;ENSP00000399080:F95V;ENSP00000371585:F108V;ENSP00000371587:F129V;ENSP00000423257:F67V;ENSP00000351892:F67V	ENSP00000351892:F67V	F	-	1	0	KCNIP4	20360427	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.881000	0.92415	2.119000	0.64992	0.477000	0.44152	TTC		0.358	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		7	65	0	0	0	1	0	7	65					C	20751329	A	C	20751329	3	2	126	1	0	0	0	0	1	0	0	0	8042	43	2	5	387	5	KCNIP4	4	20751329	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		20751329	170402947	5	2169											
GUCY1A3	2982	broad.mit.edu	37	4	156631708	156631708	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:156631708G>C	ENST00000296518.7	+	6	600	c.391G>C	c.(391-393)Gtt>Ctt	p.V131L	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V131L|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V131L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	131					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCAGTGGAGGTTATCAAAGA	0.373																																						uc003iov.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(391-393)Gtt>Ctt		Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.							68	73	72					4																	156631708		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631708G>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.391G>C	4.37:g.156631708G>C	ENSP00000296518:p.Val131Leu		Somatic				GUCY1A3_uc003iou.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.V130L|GUCY1A3_uc003iow.3_Missense_Mutation_p.V131L|GUCY1A3_uc003iox.3_Missense_Mutation_p.V131L|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.V131L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.V131L	p.V131L	NM_000856	NP_001124157	WXS	Illumina GAIIx	Phase_I	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	927	+	all_hematologic(180;0.24)	Renal(120;0.0854)	131	VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).				D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.391G>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	4.406	0.075005	0.08485	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.38	-3.37	0.04898	Heme-NO binding (1);	1.565960	0.03620	N	0.236242	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15484	0.013;0.013;0.013	T	0.11251	-1.0595	10	0.34782	T	0.22	.	2.7149	0.05185	0.3427:0.1981:0.3524:0.1067	.	131;131;131	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	L	131	ENSP00000424361:V131L;ENSP00000421493:V131L;ENSP00000426968:V131L;ENSP00000412201:V131L;ENSP00000296518:V131L;ENSP00000426040:V131L	ENSP00000296518:V131L	V	+	1	0	GUCY1A3	156851158	0.000000	0.05858	0.004000	0.12327	0.377000	0.30045	0.001000	0.13038	-0.393000	0.07739	-0.300000	0.09419	GTT		0.373	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			29	51	0	0	0	1	0	29	51					C	156631708	G	C	156631708	3	2	126	1	0	0	0	0	1	0	0	0	6894	1261	44	4	405	4	GUCY1A3	4	156631708	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08	135880379	156631708	34522568	6	2170											
PSPH	5723	broad.mit.edu	37	7	56079524	56079524	+	Silent	SNP	T	T	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:56079524T>C	ENST00000395471.3	-	8	1414	c.609A>G	c.(607-609)caA>caG	p.Q203Q	PSPH_ENST00000275605.3_Silent_p.Q203Q|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	203					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTGACTTGTTGCCTGATCA	0.348																																						uc003trj.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(694-696)caA>caG		Homo sapiens phosphoserine phosphatase (PSPH), mRNA.							100	87	91					7																	56079524		2203	4298	6501	SO:0001819	synonymous_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56079524T>C	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.609A>G	7.37:g.56079524T>C			Somatic				PSPH_uc003trh.3_Silent_p.Q203Q|PSPH_uc003tri.3_Silent_p.Q203Q	p.Q232Q	NM_004577	NP_004568	WXS	Illumina GAIIx	Phase_I	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	1011	-	Breast(14;0.214)		203					B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	c.696A>G	CCDS5522.1																																																																																				0.348	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		11	170	0	0	0	1	0	11	170					C	56079524	T	C	56079524	2	2	126	1	0	0	0	0	0	0	0	1	12717	1722	60	3		3	PSPH	7	56079524	Silent	SNP	T	TCGA-DJ-A3VM-01A-11D-A23M-08		56079524	103059139	7	2171											
MOGAT3	346606	broad.mit.edu	37	7	100841499	100841499	+	Missense_Mutation	SNP	C	C	G	rs370137222		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:100841499C>G	ENST00000223114.4	-	5	807	c.641G>C	c.(640-642)gGc>gCc	p.G214A	MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A|MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	214					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCACGAAGCCTTTGCGCTT	0.647																																						uc003uyc.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(640-642)gGc>gCc		Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.		C	ALA/GLY	0,4406		0,0,2203	44	45	45		641	5.2	1.0	7		45	2,8598		0,2,4298	no	missense	MOGAT3	NM_178176.2	60	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	214/342	100841499	2,13004	2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841499C>G	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.641G>C	7.37:g.100841499C>G	ENSP00000223114:p.Gly214Ala		Somatic				MOGAT3_uc010lhr.3_Missense_Mutation_p.G214A	p.G214A	NM_178176	NP_835470	WXS	Illumina GAIIx	Phase_I	Q86VF5	MOGT3_HUMAN			4	808	-	Lung NSC(181;0.168)|all_lung(186;0.215)		214					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.641G>C	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.133219	0.77662	0.0	2.33E-4	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.36699	1.24;1.24;1.24	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84070	0.0379	10	0.87932	D	0	-30.5891	16.123	0.81375	0.0:1.0:0.0:0.0	.	214;214	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	A	214	ENSP00000223114:G214A;ENSP00000403756:G214A;ENSP00000368734:G214A	ENSP00000223114:G214A	G	-	2	0	MOGAT3	100628219	1.000000	0.71417	0.980000	0.43619	0.440000	0.31957	4.469000	0.60169	2.412000	0.81896	0.561000	0.74099	GGC		0.647	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		35	47	0	0	0	1	0	35	47					G	100841499	C	G	100841499	3	3	126	1	0	0	0	0	1	0	0	0	9696	739	26	4	396	4	MOGAT3	7	100841499	Missense_Mutation	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08	44761975	100841499	58297164	8	2172											
CPA2	1358	broad.mit.edu	37	7	129906739	129906739	+	Silent	SNP	C	C	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:129906739C>T	ENST00000222481.4	+	1	73	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	6					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGAGGTTGATCCTGTTTTTTG	0.443																																						uc003vpq.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(16-18)atC>atT		Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.							238	214	222					7																	129906739		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129906739C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.18C>T	7.37:g.129906739C>T			Somatic				CPA2_uc011kpc.1_Silent_p.I6I	p.I6I	NM_001869	NP_001860	WXS	Illumina GAIIx	Phase_I	P48052	CBPA2_HUMAN			0	37	+	Melanoma(18;0.0435)		6					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.18C>T	CCDS5817.2																																																																																				0.443	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		76	122	0	0	0	1	0	76	122					T	129906739	C	T	129906739	2	4	126	1	0	0	0	0	0	0	0	1	3790	845	30	2		2	CPA2	7	129906739	Silent	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08	29065240	129906739	29231924	9	2173											
TG	7038	broad.mit.edu	37	8	133883768	133883768	+	Silent	SNP	G	G	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr8:133883768G>T	ENST00000220616.4	+	4	490	c.450G>T	c.(448-450)ggG>ggT	p.G150G	TG_ENST00000377869.1_Silent_p.G150G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	150	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		AGGTGTATGGGACCCGCCAGC	0.607																																						uc003ytw.3																			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.(448-450)ggG>ggT		Homo sapiens thyroglobulin (TG), mRNA.							104	76	86					8																	133883768		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883768G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.450G>T	8.37:g.133883768G>T			Somatic					p.G150G	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	3	491	+	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)	150			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.450G>T	CCDS34944.1																																																																																				0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		17	37	0	0	0	1	0	17	37					T	133883768	G	T	133883768	2	4	126	1	0	0	0	0	0	0	0	1	15810	1161	41	4		4	TG	8	133883768	Silent	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		133883768	12480254	10	2174											
NTNG2	84628	broad.mit.edu	37	9	135073480	135073480	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr9:135073480G>T	ENST00000393229.3	+	3	1117	c.341G>T	c.(340-342)cGc>cTc	p.R114L	NTNG2_ENST00000360670.3_Missense_Mutation_p.R114L|NTNG2_ENST00000372179.3_Missense_Mutation_p.R114L|NTNG2_ENST00000393228.4_Missense_Mutation_p.R114L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	114	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTGGAGCCGCTACCCCAGC	0.652																																						uc004cbh.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(340-342)cGc>cTc		Homo sapiens netrin G2 (NTNG2), mRNA.							78	69	72					9																	135073480		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073480G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.341G>T	9.37:g.135073480G>T	ENSP00000376921:p.Arg114Leu		Somatic					p.R114L	NM_032536	NP_115925	WXS	Illumina GAIIx	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	2	1117	+			114			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.341G>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852423	0.91355	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.13	5.13	0.70059	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.83036	0.5167	M	0.69823	2.125	0.58432	D	0.999998	D	0.60575	0.988	P	0.57960	0.83	D	0.83641	0.0150	10	0.45353	T	0.12	.	17.567	0.87922	0.0:0.0:1.0:0.0	.	114	Q96CW9	NTNG2_HUMAN	L	114	ENSP00000376921:R114L;ENSP00000376920:R114L;ENSP00000353888:R114L;ENSP00000361252:R114L	ENSP00000353888:R114L	R	+	2	0	NTNG2	134063301	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.696000	0.74598	2.381000	0.81170	0.561000	0.74099	CGC		0.652	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		29	52	0	0	0	1	0	29	52					T	135073480	G	T	135073480	3	4	126	1	0	0	0	0	1	0	0	0	10705	1087	38	4	347	4	NTNG2	9	135073480	Missense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		135073480	6139951	11	2175											
LRRK2	120892	broad.mit.edu	37	12	40716160	40716160	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr12:40716160C>G	ENST00000298910.7	+	37	5415	c.5357C>G	c.(5356-5358)tCt>tGt	p.S1786C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1786					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S1749F(1)|p.S1786F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACATTGATTCTCTCATGGAA	0.398																																						uc001rmg.4																			2	Substitution - Missense(2)	p.Q1786K(1)|p.S1749F(1)|p.S1786F(1)	ovary(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5356-5358)tCt>tGt		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.							247	232	237					12																	40716160		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40716160C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5357C>G	12.37:g.40716160C>G	ENSP00000298910:p.Ser1786Cys		Somatic				LRRK2_uc009zjw.3_Missense_Mutation_p.S624C|LRRK2_uc001rmi.3_Missense_Mutation_p.S619C	p.S1786C	NM_198578	NP_940980	WXS	Illumina GAIIx	Phase_I	Q5S007	LRRK2_HUMAN			36	5478	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1786					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5357C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632962	0.87660	.	.	ENSG00000188906	ENST00000298910	T	0.75154	-0.91	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	D	0.84215	0.0458	10	0.59425	D	0.04	.	19.5666	0.95395	0.0:1.0:0.0:0.0	.	1786;1786	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1786	ENSP00000298910:S1786C	ENSP00000298910:S1786C	S	+	2	0	LRRK2	39002427	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.213000	0.77950	2.602000	0.87976	0.650000	0.86243	TCT		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		149	253	0	0	0	1	0	149	253					G	40716160	C	G	40716160	3	3	126	1	0	0	0	0	1	0	0	0	9033	913	32	4	5503	4	LRRK2	12	40716160	Missense_Mutation	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08		40716160	93135735	12	2176											
C17orf68	80169	broad.mit.edu	37	17	8141916	8141916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr17:8141916G>A	ENST00000315684.8	-	3	236	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	77					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGAGACGCTGGTGAGTCTTG	0.592																																						uc002gkq.4																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(229-231)Cag>Tag		Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.							74	75	75					17																	8141916		2056	4211	6267	SO:0001587	stop_gained	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141916G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.229C>T	17.37:g.8141916G>A	ENSP00000313759:p.Gln77*		Somatic				CTC1_uc010cnv.3_Non-coding_Transcript	p.Q77*	NM_025099	NP_079375	WXS	Illumina GAIIx	Phase_I	Q2NKJ3	CTC1_HUMAN			2	288	-			77					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Nonsense_Mutation	SNP	ENST00000315684.8	37	c.229C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534645	0.64972	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.683	15.8634	0.79043	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000313759:Q77X	Q	-	1	0	CTC1	8082641	1.000000	0.71417	0.950000	0.38849	0.680000	0.39746	5.737000	0.68606	2.826000	0.97356	0.561000	0.74099	CAG		0.592	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		70	84	0	0	0	1	0	70	84					A	8141916	G	A	8141916	4	1	126	1	0	0	0	0	0	1	0	0	1876	1357	47	2	3508	2	C17orf68	17	8141916	Nonsense_Mutation	SNP	G	TCGA-DJ-A3VM-01A-11D-A23M-08		8141916	73053294	13	2177											
ATP9B	374868	broad.mit.edu	37	18	76936903	76936904	+	Frame_Shift_Del	DEL	TG	TG	-	rs201854663	byFrequency	TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr18:76936903_76936904delTG	ENST00000426216.2	+	8	886_887	c.869_870delTG	c.(868-870)ctgfs	p.L290fs	ATP9B_ENST00000307671.7_Frame_Shift_Del_p.L290fs	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	290					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTGCCGGCTCTGGGGGTGAGCA	0.441																																						uc002lmx.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(868-870)ctgfs		Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.																																				SO:0001589	frameshift_variant	374868				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76936903_76936904delTG	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.869_870delTG	18.37:g.76936903_76936904delTG	ENSP00000398076:p.Leu290fs		Somatic				ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Frame_Shift_Del_p.L290fs|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR	p.L290fs	NM_198531	NP_940933	WXS	Illumina GAIIx	Phase_I	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	7	883_884	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	290					O60872|Q08AD8|Q08AD9	Frame_Shift_Del	DEL	ENST00000426216.2	37	c.869_870delTG	CCDS12014.1																																																																																				0.441	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		51	102						51	102	---	---	---	---	-	76936904	TG	-	76936903	7	5	126	1	0	1	0	1	0	0	0	0	1199	1580	55	0	899	0	ATP9B	18	76936903	Frame_Shift_Del	DEL	TG	TCGA-DJ-A3VM-01A-11D-A23M-08		76936903	1140345	14	2178											
EIF3G	5032	broad.mit.edu	37	19	10225802	10225802	+	3'UTR	SNP	C	C	T	rs199502040		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr19:10225802C>T	ENST00000321826.4	+	0	1697				EIF3G_ENST00000253108.4_Silent_p.P317P	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTTGGTGGACGGCCTGGGGT	0.637													C|||	0	0	0	0	5008	,	,		11600	0		0	False		,,,				2504	0					uc002mnd.3																			0				central_nervous_system(1)|lung(1)	2						c.(949-951)ccG>ccA		Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.		C	,,,	1,4405		0,1,2202	48	52	51		,,,951	-0.9	1.0	19		51	0,8600		0,0,4300	no	utr-3,utr-3,utr-3,coding-synonymous	P2RY11,EIF3G,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_002566.4,NM_003755.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,,,317/321	10225802	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10225802C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.*388C>T	19.37:g.10225802C>T			Somatic				PPAN-P2RY11_uc002mna.3_3'UTR|PPAN-P2RY11_uc010xla.2_3'UTR|PPAN-P2RY11_uc002mnc.3_3'UTR	p.P317P	NM_003755	NP_003746	WXS	Illumina GAIIx	Phase_I	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		10	1015	-			317			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.951G>A	CCDS12226.1																																																																																				0.637	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		13	17	0	0	0	1	0	13	17					T	10225802	C	T	10225802	1	4	126	0	1	0	0	0	0	0	0	0	5017	523	19	1		1	EIF3G	19	10225802	3'UTR	SNP	C	TCGA-DJ-A3VM-01A-11D-A23M-08		10225802	48903181	15	2179											
MMP24	10893	broad.mit.edu	37	20	33834779	33834779	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr20:33834779A>C	ENST00000246186.6	+	2	468	c.383A>C	c.(382-384)cAg>cCg	p.Q128P	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	128					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GTGTTGGATCAGACAACGATC	0.522																																						uc002xbu.2																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(382-384)cAg>cCg		Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.							107	104	105					20																	33834779		2041	4186	6227	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33834779A>C	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.383A>C	20.37:g.33834779A>C	ENSP00000246186:p.Gln128Pro		Somatic				EDEM2_uc010zuv.1_Intron	p.Q128P	NM_006690	NP_006681	WXS	Illumina GAIIx	Phase_I	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	386	+			128					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.383A>C	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663438	0.29515	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.31247	1.5	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.128774	0.53938	D	0.000048	T	0.19167	0.0460	N	0.10782	0.045	0.52099	D	0.99994	B	0.02656	0.0	B	0.11329	0.006	T	0.04737	-1.0930	10	0.35671	T	0.21	.	14.9427	0.71006	1.0:0.0:0.0:0.0	.	128	Q9Y5R2	MMP24_HUMAN	P	128;76	ENSP00000246186:Q128P	ENSP00000246186:Q128P	Q	+	2	0	MMP24	33298195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.230000	0.78097	2.310000	0.77875	0.450000	0.29827	CAG		0.522	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		7	107	0	0	0	1	0	7	107					C	33834779	A	C	33834779	3	2	126	1	0	0	0	0	1	0	0	0	9661	188	7	5	139	5	MMP24	20	33834779	Missense_Mutation	SNP	A	TCGA-DJ-A3VM-01A-11D-A23M-08		33834779	29190741	16	2180											
MCCD1	401250	broad.mit.edu	37	6	31496941	31496941	+	Silent	SNP	G	G	A			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr6:31496941G>A	ENST00000376191.2	+	1	448	c.150G>A	c.(148-150)ggG>ggA	p.G50G	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	50						mitochondrion (GO:0005739)				skin(1)	1						GAGGAAATGGGAAGATGACGT	0.562																																						uc003ntp.1																			0				skin(1)	1						c.(148-150)ggG>ggA		Homo sapiens mitochondrial coiled-coil domain 1 (MCCD1), nuclear gene encoding mitochondrial protein, mRNA.							98	87	91					6																	31496941		1510	2709	4219	SO:0001819	synonymous_variant	401250					mitochondrion		g.chr6:31496941G>A		CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.150G>A	6.37:g.31496941G>A			Somatic					p.G50G	NM_001011700	NP_001011700	WXS	Illumina GAIIx	Phase_I	P59942	MCCD1_HUMAN			0	203	+			50					A2AB29|A2RUP7|B0UZB2|Q7RTY2	Silent	SNP	ENST00000376191.2	37	c.150G>A	CCDS34396.1																																																																																				0.562	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259099.1			30	39	0	0	0	1	0	30	39					A	31496941	G	A	31496941	2	1	127	1	0	0	0	0	0	0	0	1	9376	1161	41	2		2	MCCD1	6	31496941	Silent	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08		31496941	139618126	1	2181											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	47	0	0	0	1	0	25	47					T	140453136	A	T	140453136	3	4	127	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4UL-01A-11D-A257-08		140453136	18685527	2	2182											
GIMAP1	170575	broad.mit.edu	37	7	150417467	150417467	+	Silent	SNP	C	C	T			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr7:150417467C>T	ENST00000307194.5	+	3	515	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	125	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCGGTTCACCGCCCAGGACC	0.637																																						uc022apw.1																			0											c.(373-375)acC>acT		Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.							46	44	45					7																	150417467		2203	4300	6503	SO:0001819	synonymous_variant	100527949							g.chr7:150417467C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.375C>T	7.37:g.150417467C>T			Somatic				GIMAP1-GIMAP5_uc003whq.3_Silent_p.T125T	p.T125T	NM_001199577	NP_001186506	WXS	Illumina GAIIx	Phase_I					2	515	+								B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.375C>T	CCDS5906.1																																																																																				0.637	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		20	38	0	0	0	1	0	20	38					T	150417467	C	T	150417467	2	4	127	1	0	0	0	0	0	0	0	1	6379	639	23	1		1	GIMAP1	7	150417467	Silent	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08	9964331	150417467	8721196	3	2183											
GLIS3	169792	broad.mit.edu	37	9	3937126	3937126	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr9:3937126T>C	ENST00000324333.10	-	4	1502	c.1309A>G	c.(1309-1311)Aca>Gca	p.T437A	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.T592A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	437					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)		TTCTCGCCTGTGTGGCTCCGC	0.507																																						uc003zhx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1774-1776)Aca>Gca		Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.							103	103	103					9																	3937126		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.chr9:3937126T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1309A>G	9.37:g.3937126T>C	ENSP00000325494:p.Thr437Ala		Somatic				GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.T437A|GLIS3_uc003zhy.1_Missense_Mutation_p.T370A|GLIS3_uc003zhz.1_Missense_Mutation_p.T370A	p.T592A	NM_001042413	NP_001035878	WXS	Illumina GAIIx	Phase_I	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	4	2487	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	437					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1774A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484958	0.84854	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.51574	0.7;0.7	5.94	5.94	0.96194	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	U	0.000228	T	0.66036	0.2749	L	0.58428	1.81	0.80722	D	1	D;D;P;D	0.67145	0.983;0.983;0.711;0.996	D;D;P;D	0.77004	0.933;0.933;0.514;0.989	T	0.68465	-0.5401	10	0.87932	D	0	.	16.0679	0.80897	0.0:0.0:0.0:1.0	.	105;105;592;437	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	A	437;592	ENSP00000325494:T437A;ENSP00000371398:T592A	ENSP00000325494:T437A	T	-	1	0	GLIS3	3927126	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.040000	0.89188	2.265000	0.75225	0.482000	0.46254	ACA		0.507	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		40	74	0	0	0	1	0	40	74					C	3937126	T	C	3937126	3	2	127	1	0	0	0	0	1	0	0	0	6447	1696	59	3	1046	3	GLIS3	9	3937126	Missense_Mutation	SNP	T	TCGA-DJ-A4UL-01A-11D-A257-08		3937126	137276305	4	2184											
DRD4	1815	broad.mit.edu	37	11	640585	640585	+	Silent	SNP	C	C	T			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr11:640585C>T	ENST00000176183.5	+	4	1254	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	462					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	TCCGCAAGGCCCTGCGTGCCT	0.657																																						uc001lqp.2																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1240-1242)gcC>gcT		Homo sapiens dopamine receptor D4 (DRD4), mRNA.	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						72	63	66					11																	640585		2202	4298	6500	SO:0001819	synonymous_variant	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity	g.chr11:640585C>T	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1242C>T	11.37:g.640585C>T			Somatic					p.A414A	NM_000797	NP_000788	WXS	Illumina GAIIx	Phase_I	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	1242	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	462					B0M0J7|Q7Z7Q5|Q8NGM5	Silent	SNP	ENST00000176183.5	37	c.1242C>T	CCDS7710.1																																																																																				0.657	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		23	36	0	0	0	1	0	23	36					T	640585	C	T	640585	2	4	127	1	0	0	0	0	0	0	0	1	4759	610	22	2		2	DRD4	11	640585	Silent	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08		640585	134365931	5	2185											
OR4A47	403253	broad.mit.edu	37	11	48510460	48510460	+	Missense_Mutation	SNP	G	G	A	rs148277853		TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr11:48510460G>A	ENST00000446524.1	+	1	192	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	39						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(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCATGGTGGGCAACCTGCTC	0.413																																						uc010rhx.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(115-117)gGc>gAc		Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.		G	ASP/GLY	0,4402		0,0,2201	41	39	40		116	4.0	0.5	11	dbSNP_134	40	1,8589		0,1,4294	no	missense	OR4A47	NM_001005512.2	94	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	39/310	48510460	1,12991	2201	4295	6496	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510460G>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.116G>A	11.37:g.48510460G>A	ENSP00000412752:p.Gly39Asp		Somatic					p.G39D	NM_001005512	NP_001005512	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			0	116	+			39						Missense_Mutation	SNP	ENST00000446524.1	37	c.116G>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	10.45	1.354311	0.24512	0.0	1.16E-4	ENSG00000237388	ENST00000446524	T	0.04360	3.64	4.91	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.29652	0.0740	H	0.95470	3.675	0.27622	N	0.948316	D	0.89917	1.0	D	0.97110	1.0	T	0.37842	-0.9688	10	0.87932	D	0	.	11.2318	0.48916	0.091:0.0:0.909:0.0	.	39	Q6IF82	O4A47_HUMAN	D	39	ENSP00000412752:G39D	ENSP00000412752:G39D	G	+	2	0	OR4A47	48467036	0.710000	0.27896	0.543000	0.28128	0.002000	0.02628	1.076000	0.30729	1.051000	0.40369	-0.254000	0.11334	GGC		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		22	24	0	0	0	1	0	22	24					A	48510460	G	A	48510460	3	1	127	1	0	0	0	0	1	0	0	0	11042	1203	42	2	118	2	OR4A47	11	48510460	Missense_Mutation	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08	47869875	48510460	86496056	6	2186											
GOLGA3	2802	broad.mit.edu	37	12	133350748	133350748	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr12:133350748C>G	ENST00000450791.2	-	22	4485	c.4302G>C	c.(4300-4302)caG>caC	p.Q1434H	GOLGA3_ENST00000204726.3_Missense_Mutation_p.Q1434H			Q08378	GOGA3_HUMAN	golgin A3	1434					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTACTTGAGCTGCTGGAGGC	0.602																																						uc001ukz.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4300-4302)caG>caC		Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.							60	57	58					12																	133350748		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133350748C>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4302G>C	12.37:g.133350748C>G	ENSP00000410378:p.Gln1434His		Somatic				GOLGA3_uc021rgt.1_Non-coding_Transcript	p.Q1434H	NM_005895	NP_005886	WXS	Illumina GAIIx	Phase_I	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	22	4861	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1434					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.4302G>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834819	0.71373	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.26810	1.71;1.71	5.58	0.784	0.18578	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03413	-1.1039	10	0.72032	D	0.01	.	9.0793	0.36542	0.0:0.4558:0.0:0.5442	.	1434	Q08378	GOGA3_HUMAN	H	1434	ENSP00000204726:Q1434H;ENSP00000410378:Q1434H	ENSP00000204726:Q1434H	Q	-	3	2	GOLGA3	131860821	0.366000	0.25014	0.998000	0.56505	0.991000	0.79684	-0.326000	0.07965	-0.106000	0.12110	0.655000	0.94253	CAG		0.602	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		20	34	0	0	0	1	0	20	34					G	133350748	C	G	133350748	3	3	127	1	0	0	0	0	1	0	0	0	6554	796	28	4	202	4	GOLGA3	12	133350748	Missense_Mutation	SNP	C	TCGA-DJ-A4UL-01A-11D-A257-08		133350748	501147	7	2187											
DNAH9	1770	broad.mit.edu	37	17	11757449	11757449	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr17:11757449G>A	ENST00000262442.4	+	50	9705	c.9637G>A	c.(9637-9639)Gtc>Atc	p.V3213I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V3213I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3213	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGCTAAGGTCACCATGGC	0.562																																						uc002gne.3																			0		p.V3213V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9637-9639)Gtc>Atc		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							92	84	87					17																	11757449		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757449G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9637G>A	17.37:g.11757449G>A	ENSP00000262442:p.Val3213Ile		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.V2507I	p.V3213I	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	49	9705	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3213			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9637G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.572	0.473925	0.12521	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75477	-0.94;-0.94	5.49	3.05	0.35203	Dynein heavy chain, coiled coil stalk (1);	0.391329	0.25596	N	0.029596	T	0.46889	0.1416	N	0.10685	0.025	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.38929	-0.9638	10	0.02654	T	1	.	8.3555	0.32327	0.0977:0.0:0.7589:0.1434	.	3213	Q9NYC9	DYH9_HUMAN	I	3213;3213;1795	ENSP00000262442:V3213I;ENSP00000414874:V3213I	ENSP00000262442:V3213I	V	+	1	0	DNAH9	11698174	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	2.979000	0.49313	0.594000	0.29761	0.650000	0.86243	GTC		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		28	54	0	0	0	1	0	28	54					A	11757449	G	A	11757449	3	1	127	1	0	0	0	0	1	0	0	0	4608	1261	44	2	9835	2	DNAH9	17	11757449	Missense_Mutation	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08		11757449	69437761	8	2188											
EVPL	2125	broad.mit.edu	37	17	74011029	74011029	+	Silent	SNP	G	G	C			TCGA-DJ-A4UL-01A-11D-A257-08	TCGA-DJ-A4UL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f10660a-2465-42ed-a2a9-206fbf06bc3f	008c8709-0bc8-4d3c-8792-abc47b447fac	g.chr17:74011029G>C	ENST00000301607.3	-	17	2443	c.2190C>G	c.(2188-2190)cgC>cgG	p.R730R	EVPL_ENST00000586740.1_Silent_p.R752R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	730	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGGCGTGGTAGCGGTCGGTGA	0.667																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2254-2256)cgC>cgG		Homo sapiens envoplakin (EVPL), mRNA.							33	35	34					17																	74011029		2202	4299	6501	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011029G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2190C>G	17.37:g.74011029G>C			Somatic				EVPL_uc002jqi.2_Silent_p.R730R|EVPL_uc010wst.1_Silent_p.R200R	p.R752R	NM_001988	NP_001979	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			16	2484	-			730			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2256C>G	CCDS11737.1																																																																																				0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		12	21	0	0	0	1	0	12	21					C	74011029	G	C	74011029	2	2	127	1	0	0	0	0	0	0	0	1	5292	958	34	4		4	EVPL	17	74011029	Silent	SNP	G	TCGA-DJ-A4UL-01A-11D-A257-08	62253580	74011029	7184181	9	2189											
DHX16	8449	broad.mit.edu	37	6	30633345	30633345	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr6:30633345C>G	ENST00000376442.3	-	5	1027	c.832G>C	c.(832-834)Gat>Cat	p.D278H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	278					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CGGGCGAGATCCCGCACTCGC	0.632																																						uc003nqz.3																			0				kidney(2)|ovary(2)	4						c.(832-834)Gat>Cat		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.							72	68	69					6																	30633345		1510	2709	4219	SO:0001583	missense	8449				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding	g.chr6:30633345C>G	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.832G>C	6.37:g.30633345C>G	ENSP00000365625:p.Asp278His		Somatic				DHX16_uc011dmo.2_Missense_Mutation_p.D218H	p.D278H	NM_003587	NP_003578	WXS	Illumina GAIIx	Phase_I	O60231	DHX16_HUMAN			4	1044	-			278					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.832G>C	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	c	24.7	4.564033	0.86335	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.51325	0.71;0.71	5.12	5.12	0.69794	.	0.102877	0.64402	D	0.000005	T	0.30759	0.0775	L	0.45051	1.395	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.002;0.009	T	0.10245	-1.0638	10	0.51188	T	0.08	.	17.4724	0.87649	0.0:1.0:0.0:0.0	.	218;278	B4DZ28;O60231	.;DHX16_HUMAN	H	278;218	ENSP00000365625:D278H;ENSP00000399101:D218H	ENSP00000365625:D278H	D	-	1	0	DHX16	30741324	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.555000	0.73928	2.652000	0.90054	0.586000	0.80456	GAT		0.632	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		12	58	0	0	0	1	0	12	58					G	30633345	C	G	30633345	3	3	128	1	0	0	0	0	1	0	0	0	4502	855	30	4	2357	4	DHX16	6	30633345	Missense_Mutation	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		30633345	140481722	1	2190											
ADAMDEC1	27299	broad.mit.edu	37	8	24250806	24250806	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr8:24250806T>C	ENST00000256412.4	+	3	459	c.239T>C	c.(238-240)aTg>aCg	p.M80T	ADAMDEC1_ENST00000522298.1_Start_Codon_SNP_p.M1T|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Start_Codon_SNP_p.M1T	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	80					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAATATCAGATGATCTTAAAT	0.303																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(238-240)aTg>aCg		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.							64	68	67					8																	24250806		2203	4298	6501	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24250806T>C	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.239T>C	8.37:g.24250806T>C	ENSP00000256412:p.Met80Thr		Somatic				ADAMDEC1_uc010lub.2_Missense_Mutation_p.M1T|ADAMDEC1_uc011lab.1_Missense_Mutation_p.M1T	p.M80T	NM_014479	NP_001138744	WXS	Illumina GAIIx	Phase_I	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	2	459	+		Prostate(55;0.0181)	80					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.239T>C	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357774	0.24598	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.06068	3.35;4.2;4.2	5.47	5.47	0.80525	Peptidase M12B, propeptide (1);	0.394455	0.24504	N	0.037952	T	0.10766	0.0263	M	0.62723	1.935	0.80722	D	1	B	0.30406	0.278	B	0.34385	0.181	T	0.02059	-1.1221	10	0.72032	D	0.01	-6.2231	11.951	0.52954	0.0:0.0:0.0:1.0	.	80	O15204	ADEC1_HUMAN	T	80;1;1	ENSP00000256412:M80T;ENSP00000442592:M1T;ENSP00000428993:M1T	ENSP00000256412:M80T	M	+	2	0	ADAMDEC1	24306751	0.994000	0.37717	0.862000	0.33874	0.265000	0.26407	3.640000	0.54350	2.069000	0.61940	0.460000	0.39030	ATG		0.303	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		6	53	0	0	0	1	0	6	53					C	24250806	T	C	24250806	3	2	128	1	0	0	0	0	1	0	0	0	254	1464	51	3	249	3	ADAMDEC1	8	24250806	Missense_Mutation	SNP	T	TCGA-DJ-A4UP-01A-11D-A257-08		24250806	122113216	2	2191											
LIN37	126393	broad.mit.edu	37	19	36245363	36245363	+	IGR	SNP	C	C	T	rs539383447	byFrequency	TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr19:36245363C>T	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Silent_p.Y243Y|AC002398.11_ENST00000591091.1_RNA|AC002398.9_ENST00000591613.2_3'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGAGATGTACGAACGACAGT	0.577													C|||	2	0.000399361	8e-04	0	5008	,	,		18745	0.001		0	False		,,,				2504	0					uc021usw.1																			0				large_intestine(1)|lung(5)	6						c.(727-729)taC>taT		Homo sapiens lin-37 homolog (C. elegans) (LIN37), mRNA.							59	61	60					19																	36245363		2037	4177	6214	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245363C>T	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245363C>T			Somatic				AL137752_uc002obl.3_5'Flank	p.Y243Y	NM_019104	NP_061977	WXS	Illumina GAIIx	Phase_I	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1093	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		243					O14551|Q6NVI3|Q96MG9	Silent	SNP	ENST00000592984.1	37	c.729C>T	CCDS12475.1																																																																																				0.577	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		6	25	0	0	0	1	0	6	25					T	36245363	C	T	36245363	1	4	128	0	1	0	0	0	0	0	0	0	8807	547	19	1		1	LIN37	19	36245363	IGR	SNP	C	TCGA-DJ-A4UP-01A-11D-A257-08		36245363	22883620	3	2192											
ZNF74	7625	broad.mit.edu	37	22	20759722	20759722	+	Silent	SNP	G	G	A			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chr22:20759722G>A	ENST00000400451.2	+	5	913	c.399G>A	c.(397-399)ccG>ccA	p.P133P	ZNF74_ENST00000405993.1_Silent_p.P101P|ZNF74_ENST00000356671.5_Silent_p.P133P|ZNF74_ENST00000357502.5_Missense_Mutation_p.G139S|ZNF74_ENST00000403682.3_Missense_Mutation_p.G105S	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	133					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGAAGAACCGGCCCAGGAGC	0.627																																						uc010gsm.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(397-399)ccG>ccA		Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.							50	55	54					22																	20759722		1876	4089	5965	SO:0001819	synonymous_variant	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20759722G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.399G>A	22.37:g.20759722G>A			Somatic				ZNF74_uc002zsg.3_Silent_p.P62P|ZNF74_uc002zsh.3_Silent_p.P133P|ZNF74_uc002zsi.3_Silent_p.P62P|ZNF74_uc010gsn.3_Silent_p.P62P	p.P133P	NM_003426	NP_003417	WXS	Illumina GAIIx	Phase_I	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	611	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	133					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Silent	SNP	ENST00000400451.2	37	c.399G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309453	0.10733	.	.	ENSG00000185252	ENST00000403682;ENST00000357502	.	.	.	4.35	-8.7	0.00851	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.53005	-0.8499	5	0.87932	D	0	-4.3214	5.9698	0.19346	0.1078:0.1602:0.4951:0.2369	.	.	.	.	S	105;139	.	ENSP00000350101:G139S	G	+	1	0	ZNF74	19089722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.314000	0.00071	-5.057000	0.00023	-1.872000	0.00552	GGC		0.627	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		14	59	0	0	0	1	0	14	59					A	20759722	G	A	20759722	2	1	128	1	0	0	0	0	0	0	0	1	18124	1103	39	1		1	ZNF74	22	20759722	Silent	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08		20759722	30544844	4	2193											
ZXDA	7789	broad.mit.edu	37	X	57936620	57936620	+	Missense_Mutation	SNP	G	G	C	rs151072020		TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chrX:57936620G>C	ENST00000358697.4	-	1	447	c.235C>G	c.(235-237)Cat>Gat	p.H79D		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	79					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTAGGTTGATGGGGCCTCGGC	0.756													G|||	9	0.00238411	0.0023	0.0043	3775	,	,		7164	0.001		0	False		,,,				2504	0.002					uc004dve.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(235-237)Cat>Gat		Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.		G	ASP/HIS	1,3605		0,1,1541,522	11	12	12		235	0.1	0.0	X	dbSNP_134	12	0,6443		0,0,2353,1737	yes	missense	ZXDA	NM_007156.4	81	0,1,3894,2259	CC,CG,GG,G		0.0,0.0277,0.01	benign	79/800	57936620	1,10048	2064	4090	6154	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936620G>C	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.235C>G	X.37:g.57936620G>C	ENSP00000351530:p.His79Asp		Somatic					p.H79D	NM_007156	NP_009087	WXS	Illumina GAIIx	Phase_I	P98168	ZXDA_HUMAN			0	448	-			79					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.235C>G	CCDS14376.1	3	0.0018083182640144665	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	.	0.001	-3.048569	0.00039	2.77E-4	0.0	ENSG00000198205	ENST00000358697	T	0.18960	2.18	2.97	0.144	0.14824	.	0.883731	0.09514	N	0.791822	T	0.04407	0.0121	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38735	-0.9647	9	.	.	.	.	0.4688	0.00528	0.1995:0.3486:0.1943:0.2576	.	79	P98168	ZXDA_HUMAN	D	79	ENSP00000351530:H79D	.	H	-	1	0	ZXDA	57953345	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.024000	0.13555	-0.084000	0.12595	-0.777000	0.03380	CAT		0.756	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		3	23	0	0	0	1	0	3	23					C	57936620	G	C	57936620	3	2	128	1	0	0	0	0	1	0	0	0	18247	1348	47	4	2168	4	ZXDA	23	57936620	Missense_Mutation	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08		57936620	97333940	5	2194			1	7		2	2	14	G		2.519639e-06
ZXDA	7789	broad.mit.edu	37	X	57936633	57936633	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UP-01A-11D-A257-08	TCGA-DJ-A4UP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4bf1b6-4123-4c18-987a-f814b572a708	eaf8980b-fe88-4642-ba40-8b94e462e275	g.chrX:57936633G>C	ENST00000358697.4	-	1	434	c.222C>G	c.(220-222)ttC>ttG	p.F74L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	74					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GCCTCGGCGCGAACAGGCTTG	0.761													G|||	3	0.000794702	0	0.0029	3775	,	,		7034	0.001		0	False		,,,				2504	0					uc004dve.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(220-222)ttC>ttG		Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.							10	11	11					X																	57936633		2123	4175	6298	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936633G>C	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.222C>G	X.37:g.57936633G>C	ENSP00000351530:p.Phe74Leu		Somatic					p.F74L	NM_007156	NP_009087	WXS	Illumina GAIIx	Phase_I	P98168	ZXDA_HUMAN			0	435	-			74					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.222C>G	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.421410	0.00188	.	.	ENSG00000198205	ENST00000358697	T	0.20881	2.04	2.7	1.83	0.25207	.	0.366434	0.17474	N	0.172999	T	0.06234	0.0161	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40440	-0.9563	9	.	.	.	.	9.0185	0.36184	0.0:0.775:0.2249:0.0	.	74	P98168	ZXDA_HUMAN	L	74	ENSP00000351530:F74L	.	F	-	3	2	ZXDA	57953358	0.116000	0.22171	0.060000	0.19600	0.054000	0.15201	0.560000	0.23500	0.562000	0.29204	-0.777000	0.03380	TTC		0.761	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		3	21	0	0	0	1	0	3	21					C	57936633	G	C	57936633	3	2	128	1	0	0	0	0	1	0	0	0	18247	1049	37	4	2181	4	ZXDA	23	57936633	Missense_Mutation	SNP	G	TCGA-DJ-A4UP-01A-11D-A257-08	13	57936633	97333927	6	2195			1	7		2	2	14	G		2.519639e-06
NPPA	4878	broad.mit.edu	37	1	11907290	11907290	+	Silent	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:11907290G>T	ENST00000376480.3	-	2	428	c.330C>A	c.(328-330)ctC>ctA	p.L110L	NPPA_ENST00000376476.1_Silent_p.L60L|NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	110					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTTTTAGGAGGGCAGATC	0.667																																						uc001ati.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(328-330)ctC>ctA		Homo sapiens natriuretic peptide A (NPPA), mRNA.							58	68	64					1																	11907290		2203	4298	6501	SO:0001819	synonymous_variant	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907290G>T	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"Endogenous ligands"	7939	protein-coding gene	gene with protein product		108780	"natriuretic peptide precursor A"	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.330C>A	1.37:g.11907290G>T			Somatic				CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	p.L110L	NM_006172	NP_006163	WXS	Illumina GAIIx	Phase_I	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	429	-	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)	110					Q13766|Q5JZE1	Silent	SNP	ENST00000376480.3	37	c.330C>A	CCDS139.1																																																																																				0.667	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		7	127	0	0	0	1	0	7	127					T	11907290	G	T	11907290	2	4	129	1	0	0	0	0	0	0	0	1	10591	1161	41	4		4	NPPA	1	11907290	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		11907290	237343331	1	2196											
WDR47	22911	broad.mit.edu	37	1	109560177	109560177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560177G>A	ENST00000369962.3	-	3	427	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q69*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q69*			O94967	WDR47_HUMAN	WD repeat domain 47	69	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				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)		TCTAGAGGCTGAATGAACTGA	0.308																																						uc001dwl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(205-207)Cag>Tag		Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.							68	73	72					1																	109560177		2203	4300	6503	SO:0001587	stop_gained	22911							g.chr1:109560177G>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.205C>T	1.37:g.109560177G>A	ENSP00000358979:p.Gln69*		Somatic				WDR47_uc001dwi.3_Nonsense_Mutation_p.Q69*|WDR47_uc001dwj.3_Nonsense_Mutation_p.Q69*|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.2_5'UTR	p.Q69*	NM_001142550	NP_001136022	WXS	Illumina GAIIx	Phase_I	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)	2	581	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	69			CTLH.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.205C>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221293	0.95139	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000528747	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0544	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000358979:Q69X	Q	-	1	0	WDR47	109361700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.448000	0.97600	2.828000	0.97474	0.655000	0.94253	CAG		0.308	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		5	49	0	0	0	1	0	5	49					A	109560177	G	A	109560177	4	1	129	1	0	0	0	0	0	1	0	0	17297	1299	45	2	2630	2	WDR47	1	109560177	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	97652887	109560177	139690444	2	2197	3	2									
WDR47	22911	broad.mit.edu	37	1	109560186	109560186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560186G>A	ENST00000369962.3	-	3	418	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	WDR47_ENST00000357672.3_Intron|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q66*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q66*			O94967	WDR47_HUMAN	WD repeat domain 47	66	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				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)		TGAATGAACTGAAGAACTTCA	0.308																																						uc001dwl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(196-198)Cag>Tag		Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.							67	72	70					1																	109560186		2203	4299	6502	SO:0001587	stop_gained	22911							g.chr1:109560186G>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.196C>T	1.37:g.109560186G>A	ENSP00000358979:p.Gln66*		Somatic				WDR47_uc001dwi.3_Nonsense_Mutation_p.Q66*|WDR47_uc001dwj.3_Nonsense_Mutation_p.Q66*|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.2_5'UTR	p.Q66*	NM_001142550	NP_001136022	WXS	Illumina GAIIx	Phase_I	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)	2	572	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	66			CTLH.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.196C>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216353	0.95104	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000528747	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.1238	20.4238	0.99064	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000358979:Q66X	Q	-	1	0	WDR47	109361709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.828000	0.97474	0.655000	0.94253	CAG		0.308	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		4	48	0	0	0	1	0	4	48					A	109560186	G	A	109560186	4	1	129	1	0	0	0	0	0	1	0	0	17297	1299	45	2	2639	2	WDR47	1	109560186	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	9	109560186	139690435	3	2198	3	2									
ASTN1	460	broad.mit.edu	37	1	176852036	176852036	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:176852036G>A	ENST00000367654.3	-	20	3556	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I	ASTN1_ENST00000424564.2_Silent_p.I1107I|ASTN1_ENST00000367657.3_Silent_p.I1107I|ASTN1_ENST00000361833.2_Silent_p.I1107I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1115	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATCAGAGAGATGGTGGTGA	0.507																																						uc001glc.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3319-3321)atC>atT		Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.							170	144	153					1																	176852036		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176852036G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3345C>T	1.37:g.176852036G>A			Somatic				ASTN1_uc001glb.1_Silent_p.I1107I|ASTN1_uc001gld.1_Silent_p.I1107I	p.I1107I	NM_004319	NP_004310	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			19	3533	-			1115			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3321C>T																																																																																					0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	46	0	0	0	1	0	7	46					A	176852036	G	A	176852036	2	1	129	1	0	0	0	0	0	0	0	1	1064	932	33	2		2	ASTN1	1	176852036	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	67291850	176852036	72398585	4	2199											
USH2A	7399	broad.mit.edu	37	1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:215844402C>G	ENST00000307340.3	-	64	14431	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T	USH2A_ENST00000366943.2_Missense_Mutation_p.R4682T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4682	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14044-14046)aGa>aCa		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							173	170	171					1																	215844402		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844402C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14045G>C	1.37:g.215844402C>G	ENSP00000305941:p.Arg4682Thr	HNSCC(13;0.011)	Somatic					p.R4682T	NM_206933	NP_996816	WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	14432	-			4682			Fibronectin type-III 32.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14045G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021558	0.07634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52754	0.65;0.65	5.09	2.19	0.27852	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.605103	0.13682	U	0.370113	T	0.20820	0.0501	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18398	-1.0338	10	0.14252	T	0.57	.	1.4075	0.02283	0.1857:0.4565:0.1205:0.2373	.	4682	O75445	USH2A_HUMAN	T	4682	ENSP00000305941:R4682T;ENSP00000355910:R4682T	ENSP00000305941:R4682T	R	-	2	0	USH2A	213911025	0.004000	0.15560	0.003000	0.11579	0.029000	0.11900	2.083000	0.41615	0.259000	0.21709	0.557000	0.71058	AGA		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	106	0	0	0	1	0	10	106					G	215844402	C	G	215844402	3	3	129	1	0	0	0	0	1	0	0	0	17033	913	32	4	1599	4	USH2A	1	215844402	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	38992366	215844402	33406219	5	2200											
TARBP1	6894	broad.mit.edu	37	1	234528271	234528271	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:234528271G>C	ENST00000040877.1	-	29	4587	c.4588C>G	c.(4588-4590)Ctg>Gtg	p.L1530V	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1530					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.L1530V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCTGCTGCAGATAATCAATT	0.348																																						uc001hwd.3																			1	Substitution - Missense(1)	p.L1530V(2)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4588-4590)Ctg>Gtg		Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.							151	148	149					1																	234528271		2203	4300	6503	SO:0001583	missense	6894				RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234528271G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4588C>G	1.37:g.234528271G>C	ENSP00000040877:p.Leu1530Val		Somatic					p.L1530V	NM_005646	NP_005637	WXS	Illumina GAIIx	Phase_I	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		28	4588	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1530					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4588C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918551	0.33908	.	.	ENSG00000059588	ENST00000040877	T	0.50548	0.74	5.72	3.52	0.40303	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000003	T	0.66177	0.2763	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66720	-0.5852	10	0.46703	T	0.11	-13.6468	6.5681	0.22523	0.3607:0.0:0.6393:0.0	.	1530	Q13395	TARB1_HUMAN	V	1530	ENSP00000040877:L1530V	ENSP00000040877:L1530V	L	-	1	2	TARBP1	232594894	1.000000	0.71417	0.973000	0.42090	0.220000	0.24768	3.413000	0.52686	1.436000	0.47453	-0.237000	0.12165	CTG		0.348	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		18	85	0	0	0	1	0	18	85					C	234528271	G	C	234528271	3	2	129	1	0	0	0	0	1	0	0	0	15552	933	33	4	285	4	TARBP1	1	234528271	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	18683869	234528271	14722350	6	2201											
EIF2AK2	5610	broad.mit.edu	37	2	37334481	37334481	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:37334481C>T	ENST00000233057.4	-	17	1913	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E531K|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E490K	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	531	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)			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)				CTTAGTATTTCAGATGTGTTA	0.383																																						uc010ynh.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(1591-1593)Gaa>Aaa		Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.							146	136	139					2																	37334481		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.chr2:37334481C>T	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1591G>A	2.37:g.37334481C>T	ENSP00000233057:p.Glu531Lys		Somatic				EIF2AK2_uc010fab.2_Missense_Mutation_p.E490K|EIF2AK2_uc010yng.2_Missense_Mutation_p.E488K|EIF2AK2_uc010fac.3_Missense_Mutation_p.E531K	p.E531K	NM_002759	NP_002750	WXS	Illumina GAIIx	Phase_I	P19525	E2AK2_HUMAN			16	2148	-		all_hematologic(82;0.248)	531			Protein kinase.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.1591G>A	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827123	0.71143	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	T;T;T	0.56275	0.47;0.47;0.47	5.18	0.17	0.15021	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.578922	0.16560	N	0.209093	T	0.47451	0.1446	L	0.48642	1.525	0.09310	N	0.999996	P;P	0.52692	0.955;0.519	P;B	0.50049	0.629;0.188	T	0.37478	-0.9704	10	0.59425	D	0.04	-13.6678	4.6237	0.12467	0.1456:0.5162:0.0:0.3382	.	531;490	P19525;E9PC80	E2AK2_HUMAN;.	K	531;531;490	ENSP00000233057:E531K;ENSP00000378559:E531K;ENSP00000385014:E490K	ENSP00000233057:E531K	E	-	1	0	EIF2AK2	37187985	0.137000	0.22531	0.054000	0.19295	0.483000	0.33249	0.284000	0.18864	0.033000	0.15463	-0.253000	0.11424	GAA		0.383	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		4	58	0	0	0	1	0	4	58					T	37334481	C	T	37334481	3	4	129	1	0	0	0	0	1	0	0	0	4997	835	29	2	68	2	EIF2AK2	2	37334481	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		37334481	205864892	7	2202											
CHST10	9486	broad.mit.edu	37	2	101009860	101009860	+	Silent	SNP	C	C	T	rs371699053		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:101009860C>T	ENST00000264249.3	-	7	1303	c.918G>A	c.(916-918)ccG>ccA	p.P306P	CHST10_ENST00000409701.1_Silent_p.P306P|CHST10_ENST00000542617.1_Silent_p.P354P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	306					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGGGATAGTCGGGTATGACA	0.522																																						uc002tam.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(916-918)ccG>ccA		Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.		C		0,4406		0,0,2203	160	134	143		918	-10.6	0.5	2		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHST10	NM_004854.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		306/357	101009860	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009860C>T	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.918G>A	2.37:g.101009860C>T			Somatic					p.P306P	NM_004854	NP_004845	WXS	Illumina GAIIx	Phase_I	O43529	CHSTA_HUMAN			6	1316	-			306					Q53T18	Silent	SNP	ENST00000264249.3	37	c.918G>A	CCDS2047.1																																																																																				0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		8	89	0	0	0	1	0	8	89					T	101009860	C	T	101009860	2	4	129	1	0	0	0	0	0	0	0	1	3398	871	31	1		1	CHST10	2	101009860	Silent	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	63675379	101009860	142189513	8	2203											
TGFBRAP1	9392	broad.mit.edu	37	2	105924339	105924339	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:105924339G>A	ENST00000393359.2	-	2	846	c.420C>T	c.(418-420)atC>atT	p.I140I	TGFBRAP1_ENST00000258449.1_Silent_p.I140I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	140	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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						TGACAGAGATGATGCAAACTT	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.3																			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.(418-420)atC>atT		Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.							134	137	136					2																	105924339		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:105924339G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.420C>T	2.37:g.105924339G>A			Somatic				TGFBRAP1_uc002tcr.4_Silent_p.I140I	p.I140I	NM_004257	NP_004248	WXS	Illumina GAIIx	Phase_I	Q8WUH2	TGFA1_HUMAN			1	504	-			140			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.420C>T	CCDS2067.1																																																																																				0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		26	131	0	0	0	1	0	26	131					A	105924339	G	A	105924339	2	1	129	1	0	0	0	0	0	0	0	1	15821	1280	45	2		2	TGFBRAP1	2	105924339	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	4914479	105924339	137275034	9	2204											
WDR33	55339	broad.mit.edu	37	2	128467330	128467330	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:128467330C>T	ENST00000322313.4	-	19	3567	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1137					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCAGAAGCATCAAAATTCTCC	0.577																																						uc002tpg.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3409-3411)Gat>Aat		Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.							92	104	100					2																	128467330		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467330C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3409G>A	2.37:g.128467330C>T	ENSP00000325377:p.Asp1137Asn		Somatic					p.D1137N	NM_018383	NP_060853	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3608	-	Colorectal(110;0.1)		1137					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3409G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620043	0.96660	.	.	ENSG00000136709	ENST00000322313	D	0.92752	-3.1	5.32	5.32	0.75619	.	0.059851	0.64402	D	0.000004	D	0.92254	0.7543	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.89894	0.4039	10	0.17832	T	0.49	-12.4855	18.9833	0.92762	0.0:1.0:0.0:0.0	.	1137	Q9C0J8	WDR33_HUMAN	N	1137	ENSP00000325377:D1137N	ENSP00000325377:D1137N	D	-	1	0	WDR33	128183800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.493000	0.84123	0.561000	0.74099	GAT		0.577	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	131	0	0	0	1	0	7	131					T	128467330	C	T	128467330	3	4	129	1	0	0	0	0	1	0	0	0	17284	826	29	2	617	2	WDR33	2	128467330	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	22542991	128467330	114732043	10	2205											
DNAH1	25981	broad.mit.edu	37	3	52393384	52393384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:52393384delC	ENST00000420323.2	+	26	4650	c.4389delC	c.(4387-4389)ttcfs	p.F1463fs		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)		GCCAACTGTTCCCCCAGCTCT	0.637																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4387-4389)ttcfs		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							31	40	37					3																	52393384		1948	4137	6085	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.chr3:52393384delC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4389delC	3.37:g.52393384delC	ENSP00000401514:p.Phe1463fs		Somatic					p.F1463fs	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	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)	25	4650	+			1463			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	ENST00000420323.2	37	c.4389delC	CCDS46842.1																																																																																				0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		2	4						2	4	---	---	---	---	-	52393384	C	-	52393384	7	5	129	1	0	1	0	1	0	0	0	0	4597	854	30	0	4487	0	DNAH1	3	52393384	Frame_Shift_Del	DEL	C	TCGA-DJ-A4UT-01A-11D-A257-08		52393384	145629046	11	2206											
RNF13	11342	broad.mit.edu	37	3	149677884	149677884	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:149677884G>A	ENST00000344229.3	+	10	1444	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RNF13_ENST00000392894.3_Missense_Mutation_p.E248K|RNF13_ENST00000361785.6_Missense_Mutation_p.E129K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	248					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGATGAGTATGAAGATGGAGA	0.323																																						uc003exn.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(742-744)Gaa>Aaa		Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.							222	226	225					3																	149677884		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149677884G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.742G>A	3.37:g.149677884G>A	ENSP00000341361:p.Glu248Lys		Somatic				RNF13_uc003exp.4_Missense_Mutation_p.E248K|RNF13_uc010hvh.3_Missense_Mutation_p.E129K	p.E248K	NM_007282	NP_899237	WXS	Illumina GAIIx	Phase_I	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		9	1526	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	248					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.742G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338421	0.95783	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000467977;ENST00000543506;ENST00000361785;ENST00000482083	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	N	0.11651	0.15	0.80722	D	1	P;B	0.49696	0.927;0.425	P;B	0.58620	0.842;0.414	T	0.08472	-1.0720	10	0.02654	T	1	-32.1258	20.6208	0.99490	0.0:0.0:1.0:0.0	.	129;248	B3KR12;O43567	.;RNF13_HUMAN	K	248;248;129;129;248;129;129	ENSP00000376628:E248K;ENSP00000341361:E248K;ENSP00000420667:E129K;ENSP00000418308:E129K;ENSP00000355268:E129K;ENSP00000418863:E129K	ENSP00000341361:E248K	E	+	1	0	RNF13	151160574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	2.882000	0.98803	0.655000	0.94253	GAA		0.323	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		14	116	0	0	0	1	0	14	116					A	149677884	G	A	149677884	3	1	129	1	0	0	0	0	1	0	0	0	13437	1291	45	2	772	2	RNF13	3	149677884	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	97284500	149677884	48344546	12	2207											
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962284	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr4:69962284T>A	ENST00000508661.1	+	1	73	c.46T>A	c.(46-48)Ttt>Att	p.F16I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.F16I			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTGAGCTTTTGCTTTAG	0.418																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(46-48)Ttt>Att		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							141	140	140					4																	69962284		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962284T>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.46T>A	4.37:g.69962284T>A	ENSP00000427659:p.Phe16Ile		Somatic				UGT2B7_uc010ihq.3_Missense_Mutation_p.F16I	p.F16I	NM_001074	NP_001065	WXS	Illumina GAIIx	Phase_I	P16662	UD2B7_HUMAN			0	92	+			16					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.46T>A		.	.	.	.	.	.	.	.	.	.	T	9.110	1.006360	0.19199	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60171	0.21;0.82	2.54	1.25	0.21368	.	0.425221	0.19424	U	0.114608	T	0.38268	0.1034	L	0.28192	0.835	0.09310	N	1	B;B	0.20368	0.044;0.012	B;B	0.25759	0.063;0.004	T	0.18967	-1.0320	9	.	.	.	.	5.9873	0.19442	0.2313:0.0:0.0:0.7687	.	16;16	E9PBP8;P16662	.;UD2B7_HUMAN	I	16	ENSP00000304811:F16I;ENSP00000427659:F16I	.	F	+	1	0	UGT2B7	69996873	0.036000	0.19791	0.000000	0.03702	0.038000	0.13279	2.489000	0.45285	0.183000	0.20059	0.260000	0.18958	TTT		0.418	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		33	67	0	0	0	1	0	33	67					A	69962284	T	A	69962284	3	1	129	1	0	0	0	0	1	0	0	0	16959	1609	56	5	48	5	UGT2B7	4	69962284	Missense_Mutation	SNP	T	TCGA-DJ-A4UT-01A-11D-A257-08		69962284	121191992	13	2208											
C6	729	broad.mit.edu	37	5	41203192	41203192	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:41203192G>T	ENST00000263413.3	-	2	405	c.141C>A	c.(139-141)caC>caA	p.H47Q	C6_ENST00000337836.5_Missense_Mutation_p.H47Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	47	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACACCCACCTGTGTCTGCTCT	0.483																																						uc003jmk.2																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(139-141)caC>caA		Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.							211	216	214					5																	41203192		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203192G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.141C>A	5.37:g.41203192G>T	ENSP00000263413:p.His47Gln		Somatic				C6_uc003jml.1_Missense_Mutation_p.H47Q	p.H47Q	NM_000065	NP_001108603	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			1	351	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	47			TSP type-1 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.141C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990303	0.18966	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.50548	0.74;0.74;0.74	5.81	-3.77	0.04346	.	1.274360	0.04720	N	0.419149	T	0.17023	0.0409	N	0.02158	-0.66	0.09310	N	0.999998	B	0.09022	0.002	B	0.10450	0.005	T	0.08269	-1.0730	10	0.23891	T	0.37	-23.6411	1.7424	0.02955	0.1858:0.18:0.3769:0.2573	.	47	P13671	CO6_HUMAN	Q	47	ENSP00000338861:H47Q;ENSP00000263413:H47Q;ENSP00000396565:H47Q	ENSP00000263413:H47Q	H	-	3	2	C6	41238949	0.000000	0.05858	0.944000	0.38274	0.768000	0.43524	-1.428000	0.02439	-0.420000	0.07427	-0.283000	0.09986	CAC		0.483	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			25	164	0	0	0	1	0	25	164					T	41203192	G	T	41203192	3	4	129	1	0	0	0	0	1	0	0	0	2315	1368	48	4	2731	4	C6	5	41203192	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		41203192	139712068	14	2209											
LNPEP	4012	broad.mit.edu	37	5	96349489	96349489	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:96349489G>A	ENST00000231368.5	+	12	2865	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	LNPEP_ENST00000395770.3_Missense_Mutation_p.D711N	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	725					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCTGAGTGACAAAGACCG	0.328																																						uc003kmv.1																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2173-2175)Gac>Aac		Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.							149	147	148					5																	96349489		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96349489G>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2173G>A	5.37:g.96349489G>A	ENSP00000231368:p.Asp725Asn		Somatic				LNPEP_uc003kmw.1_Missense_Mutation_p.D711N	p.D725N	NM_005575	NP_787116	WXS	Illumina GAIIx	Phase_I	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	11	2687	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	725					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2173G>A	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741004	0.49151	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05580	3.42;3.42	5.27	5.27	0.74061	.	0.714464	0.14270	N	0.330201	T	0.10508	0.0257	L	0.40543	1.245	0.24587	N	0.993846	P	0.39964	0.697	P	0.48738	0.588	T	0.23297	-1.0192	10	0.27785	T	0.31	.	10.1736	0.42924	0.0:0.1469:0.7012:0.1519	.	725	Q9UIQ6	LCAP_HUMAN	N	725;711	ENSP00000231368:D725N;ENSP00000379117:D711N	ENSP00000231368:D725N	D	+	1	0	LNPEP	96375245	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	0.286000	0.18902	2.444000	0.82710	0.650000	0.86243	GAC		0.328	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		19	118	0	0	0	1	0	19	118					A	96349489	G	A	96349489	3	1	129	1	0	0	0	0	1	0	0	0	8864	1290	45	2	2219	2	LNPEP	5	96349489	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	55146297	96349489	84565771	15	2210											
ZNF165	7718	broad.mit.edu	37	6	28056396	28056396	+	Silent	SNP	T	T	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr6:28056396T>C	ENST00000377325.1	+	4	1162	c.606T>C	c.(604-606)atT>atC	p.I202I	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	202					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(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGAAAAAATTGAATCACAGA	0.363																																						uc021yro.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(604-606)atT>atC		Homo sapiens zinc finger protein 165 (ZNF165), mRNA.							65	75	72					6																	28056396		2199	4300	6499	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056396T>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.606T>C	6.37:g.28056396T>C			Somatic				ZNF165_uc003nkh.3_Silent_p.I202I|ZNF165_uc003nki.4_Silent_p.I202I|ZSCAN12P1_uc003nkj.4_5'Flank	p.I202I	NM_003447	NP_003438	WXS	Illumina GAIIx	Phase_I	P49910	ZN165_HUMAN			3	1433	+			202						Silent	SNP	ENST00000377325.1	37	c.606T>C	CCDS4643.1																																																																																				0.363	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		33	74	0	0	0	1	0	33	74					C	28056396	T	C	28056396	2	2	129	1	0	0	0	0	0	0	0	1	17737	1800	63	3		3	ZNF165	6	28056396	Silent	SNP	T	TCGA-DJ-A4UT-01A-11D-A257-08		28056396	143058671	16	2211											
ZPBP	11055	broad.mit.edu	37	7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284																																						uc003tou.3																			0		p.R48L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(142-144)Cga>Tga		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.							33	34	33					7																	50129291		2203	4298	6501	SO:0001587	stop_gained	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50129291G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.142C>T	7.37:g.50129291G>A	ENSP00000046087:p.Arg48*		Somatic				ZPBP_uc010kyw.3_Nonsense_Mutation_p.R48*	p.R48*	NM_007009	NP_008940	WXS	Illumina GAIIx	Phase_I	Q9BS86	ZPBP1_HUMAN			1	212	-	Glioma(55;0.08)|all_neural(89;0.245)		48					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Nonsense_Mutation	SNP	ENST00000046087.2	37	c.142C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259065	0.95368	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	.	.	.	5.49	4.6	0.57074	.	0.365143	0.20359	N	0.093885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6381	13.7355	0.62815	0.0:0.0:0.8368:0.1632	.	.	.	.	X	48;48;9	.	.	R	-	1	2	ZPBP	50099837	0.956000	0.32656	0.839000	0.33178	0.855000	0.48748	2.010000	0.40913	1.425000	0.47237	0.557000	0.71058	CGA		0.284	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	22	0	0	0	1	0	3	22					A	50129291	G	A	50129291	4	1	129	1	0	0	0	0	0	1	0	0	18216	1066	37	1	941	1	ZPBP	7	50129291	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		50129291	109009372	17	2212											
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr9:26995683C>G	ENST00000380055.5	-	5	1059	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	317						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343																																						uc003zqh.3																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.(949-951)Gaa>Caa		Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.							128	127	128					9																	26995683		2203	4300	6503	SO:0001583	missense	64922					integral to membrane		g.chr9:26995683C>G	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.949G>C	9.37:g.26995683C>G	ENSP00000369395:p.Glu317Gln		Somatic				IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	p.E317Q	NM_022901	NP_075052	WXS	Illumina GAIIx	Phase_I	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	4	1060	-		all_neural(11;1.81e-09)	317					A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	c.949G>C	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171881	0.38315	.	.	ENSG00000184434	ENST00000380055	T	0.54479	0.57	5.55	3.71	0.42584	.	0.837919	0.10910	N	0.620714	T	0.58466	0.2124	L	0.60455	1.87	0.31775	N	0.631625	D	0.57899	0.981	P	0.49637	0.617	T	0.62695	-0.6800	10	0.72032	D	0.01	-0.0482	11.7226	0.51691	0.0:0.8579:0.0:0.1421	.	317	Q9H756	LRC19_HUMAN	Q	317	ENSP00000369395:E317Q	ENSP00000369395:E317Q	E	-	1	0	LRRC19	26985683	0.996000	0.38824	0.105000	0.21289	0.060000	0.15804	2.360000	0.44151	0.716000	0.32124	-0.225000	0.12378	GAA		0.343	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		8	60	0	0	0	1	0	8	60					G	26995683	C	G	26995683	3	3	129	1	0	0	0	0	1	0	0	0	8975	835	29	4	167	4	LRRC19	9	26995683	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		26995683	114217748	18	2213											
IDI2	91734	broad.mit.edu	37	10	1070568	1070568	+	Silent	SNP	A	A	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:1070568A>G	ENST00000277517.1	-	2	160	c.96T>C	c.(94-96)ggT>ggC	p.G32G	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	32					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TGGTGTCGGCACCAATAACCT	0.473																																						uc001ifv.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(94-96)ggT>ggC		Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.							143	120	128					10																	1070568		2203	4300	6503	SO:0001819	synonymous_variant	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1070568A>G	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.96T>C	10.37:g.1070568A>G			Somatic				IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron	p.G32G	NM_033261	NP_150286	WXS	Illumina GAIIx	Phase_I	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	1	161	-		Colorectal(49;0.235)	32						Silent	SNP	ENST00000277517.1	37	c.96T>C	CCDS7055.1																																																																																				0.473	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		18	41	0	0	0	1	0	18	41					G	1070568	A	G	1070568	2	3	129	1	0	0	0	0	0	0	0	1	7500	146	6	3		3	IDI2	10	1070568	Silent	SNP	A	TCGA-DJ-A4UT-01A-11D-A257-08		1070568	134464179	19	2214											
SPAG6	9576	broad.mit.edu	37	10	22675710	22675710	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:22675710G>C	ENST00000376624.3	+	5	642	c.500G>C	c.(499-501)gGa>gCa	p.G167A	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.G243A|SPAG6_ENST00000313311.6_Missense_Mutation_p.G167A|SPAG6_ENST00000538630.1_Missense_Mutation_p.G142A	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	167					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTGGATGCAGGAGCTGTTCCT	0.463																																						uc001iri.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(499-501)gGa>gCa		Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.							110	102	105					10																	22675710		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22675710G>C	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.500G>C	10.37:g.22675710G>C	ENSP00000365811:p.Gly167Ala		Somatic				SPAG6_uc010qct.2_Missense_Mutation_p.G142A|SPAG6_uc009xkh.3_Missense_Mutation_p.G145A|SPAG6_uc001irj.3_Missense_Mutation_p.G167A|SPAG6_uc021poe.1_5'UTR	p.G167A	NM_012443	NP_036575	WXS	Illumina GAIIx	Phase_I	O75602	SPAG6_HUMAN			4	667	+			167					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.500G>C	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654449	0.88056	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;0.15	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.73380	0.98;0.967;0.967;0.98	D	0.95486	0.8565	10	0.87932	D	0	-27.5983	19.9756	0.97304	0.0:0.0:1.0:0.0	.	142;243;167;167	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	A	167;243;142;167;243	ENSP00000365811:G167A;ENSP00000365788:G243A;ENSP00000441325:G142A;ENSP00000323599:G167A;ENSP00000406594:G243A	ENSP00000323599:G167A	G	+	2	0	SPAG6	22715716	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.772000	0.98984	2.793000	0.96121	0.563000	0.77884	GGA		0.463	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			4	72	0	0	0	1	0	4	72					C	22675710	G	C	22675710	3	2	129	1	0	0	0	0	1	0	0	0	14982	1174	41	4	518	4	SPAG6	10	22675710	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	21605142	22675710	112859037	20	2215											
GBF1	8729	broad.mit.edu	37	10	104140004	104140004	+	Splice_Site	SNP	A	A	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:104140004A>C	ENST00000369983.3	+	37	5135		c.e37-1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGGGCCATAGGTCTTCCTG	0.572																																						uc001kux.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.e37-2		Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.							116	109	111					10																	104140004		2203	4300	6503	SO:0001630	splice_region_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140004A>C	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4876-1A>C	10.37:g.104140004A>C			Somatic				GBF1_uc001kuy.2_Splice_Site_p.V1622_splice|GBF1_uc001kuz.2_Splice_Site_p.V1623_splice	p.V1626_splice	NM_004193	NP_004184	WXS	Illumina GAIIx	Phase_I	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	37	5170	+		Colorectal(252;0.0236)	1626					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	ENST00000369983.3	37	c.4876_splice	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967434	0.74131	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBF1	104129994	1.000000	0.71417	0.990000	0.47175	0.790000	0.44656	9.152000	0.94680	2.254000	0.74563	0.533000	0.62120	.		0.572	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		Intron	19	57	0	0	0	1	0	19	57					C	104140004	A	C	104140004	5	2	129	1	0	0	0	0	0	0	1	0	6271	434	15	5	5016	5	GBF1	10	104140004	Splice_Site	SNP	A	TCGA-DJ-A4UT-01A-11D-A257-08	81464294	104140004	31394743	21	2216											
SLC25A45	283130	broad.mit.edu	37	11	65144371	65144371	+	Silent	SNP	C	C	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65144371C>A	ENST00000527174.1	-	5	571	c.516G>T	c.(514-516)ctG>ctT	p.L172L	SLC25A45_ENST00000534028.1_Silent_p.L148L|SLC25A45_ENST00000417511.2_Silent_p.L130L|SLC25A45_ENST00000526432.1_Silent_p.L110L|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000360662.3_Silent_p.L148L|SLC25A45_ENST00000398802.1_Silent_p.L172L|SLC25A45_ENST00000377152.2_Silent_p.L68L|SLC25A45_ENST00000294187.6_Silent_p.L130L			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	172					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GGGTGTCCCTCAGCGTCAGGG	0.652																																						uc001odr.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(514-516)ctG>ctT		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.							76	80	79					11																	65144371		1966	4145	6111	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144371C>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.516G>T	11.37:g.65144371C>A			Somatic				SLC25A45_uc009yqi.1_Silent_p.L110L|SLC25A45_uc001odq.1_Silent_p.L148L|SLC25A45_uc001ods.1_Silent_p.L130L|SLC25A45_uc001odt.1_Silent_p.L130L	p.L172L	NM_182556	NP_001070709	WXS	Illumina GAIIx	Phase_I	Q8N413	S2545_HUMAN			5	720	-			172					Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.516G>T	CCDS41670.1																																																																																				0.652	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		20	124	0	0	0	1	0	20	124					A	65144371	C	A	65144371	2	1	129	1	0	0	0	0	0	0	0	1	14510	813	29	4		4	SLC25A45	11	65144371	Silent	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		65144371	69862145	22	2217											
PACS1	55690	broad.mit.edu	37	11	65838203	65838203	+	Frame_Shift_Del	DEL	G	G	-	rs563612549		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65838203delG	ENST00000320580.4	+	1	279	c.246delG	c.(244-246)tcgfs	p.S82fs	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	82	Ser-rich.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CGGTGGCCTCGGGCTCCGCGC	0.741																																						uc001oha.2																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(244-246)tcgfs		Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.							6	8	7					11																	65838203		2098	4137	6235	SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838203delG	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.246delG	11.37:g.65838203delG	ENSP00000316454:p.Ser82fs		Somatic				PACS1_uc001ogz.1_Frame_Shift_Del_p.S82fs	p.S82fs	NM_018026	NP_060496	WXS	Illumina GAIIx	Phase_I	Q6VY07	PACS1_HUMAN			0	380	+			82			Ser-rich.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Del	DEL	ENST00000320580.4	37	c.246delG	CCDS8129.1																																																																																				0.741	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	4						2	4	---	---	---	---	-	65838203	G	-	65838203	7	5	129	1	0	1	0	1	0	0	0	0	11372	1103	39	0	248	0	PACS1	11	65838203	Frame_Shift_Del	DEL	G	TCGA-DJ-A4UT-01A-11D-A257-08	693832	65838203	69168313	23	2218											
SSH3	54961	broad.mit.edu	37	11	67075408	67075408	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:67075408G>C	ENST00000308127.4	+	8	1061	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.E295Q|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	295					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACTTCCAAAGAGGTGGGCAG	0.617																																						uc001okj.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(883-885)Gag>Cag		Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.							54	55	54					11																	67075408		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075408G>C	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.883G>C	11.37:g.67075408G>C	ENSP00000312081:p.Glu295Gln		Somatic				SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Missense_Mutation_p.E149Q	p.E295Q	NM_017857	NP_060327	WXS	Illumina GAIIx	Phase_I	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		7	1061	+			295					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.883G>C	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642964	0.14451	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	T;T;T	0.17854	3.81;3.86;2.25	4.44	4.44	0.53790	DEK, C-terminal (1);	0.180290	0.36482	N	0.002569	T	0.15522	0.0374	L	0.31065	0.9	0.40101	D	0.976378	B;B	0.33637	0.42;0.226	B;B	0.36186	0.219;0.193	T	0.09907	-1.0653	10	0.32370	T	0.25	-22.2203	16.2203	0.82255	0.0:0.0:1.0:0.0	.	149;295	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	Q	295;295;47	ENSP00000312081:E295Q;ENSP00000365948:E295Q;ENSP00000433902:E47Q	ENSP00000312081:E295Q	E	+	1	0	SSH3	66831984	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	4.133000	0.57983	2.205000	0.71048	0.462000	0.41574	GAG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		4	34	0	0	0	1	0	4	34					C	67075408	G	C	67075408	3	2	129	1	0	0	0	0	1	0	0	0	15185	943	33	4	913	4	SSH3	11	67075408	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	1237205	67075408	67931108	24	2219											
STT3A	3703	broad.mit.edu	37	11	125490695	125490695	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:125490695C>T	ENST00000529196.1	+	19	2314	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	STT3A_ENST00000531491.1_Missense_Mutation_p.S611L|STT3A_ENST00000392708.4_Missense_Mutation_p.S703L|STT3A_ENST00000526364.1_Intron			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	703					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|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)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CGAGGCTTGTCAAGGACATAA	0.338																																						uc001qcd.2																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(2107-2109)tCa>tTa		Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.							80	73	75					11																	125490695		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125490695C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.2108C>T	11.37:g.125490695C>T	ENSP00000436962:p.Ser703Leu		Somatic				STT3A_uc001qce.2_Missense_Mutation_p.S703L|STT3A_uc010sbg.1_Missense_Mutation_p.S611L|STT3A_uc009zbn.2_Missense_Mutation_p.S425L	p.S703L	NM_152713	NP_689926	WXS	Illumina GAIIx	Phase_I	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	17	2218	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	703					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.2108C>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245237	0.80024	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	N	0.16743	0.435	0.80722	D	1	P;D	0.54601	0.909;0.967	P;P	0.60789	0.879;0.879	T	0.66571	-0.5890	9	0.72032	D	0.01	-8.6785	19.8925	0.96935	0.0:1.0:0.0:0.0	.	611;703	B4DJ24;P46977	.;STT3A_HUMAN	L	703;703;611	.	ENSP00000376472:S703L	S	+	2	0	STT3A	124995905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.453000	0.80700	2.786000	0.95864	0.563000	0.77884	TCA		0.338	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		4	37	0	0	0	1	0	4	37					T	125490695	C	T	125490695	3	4	129	1	0	0	0	0	1	0	0	0	15332	838	29	2	2174	2	STT3A	11	125490695	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	58415287	125490695	9515821	25	2220											
GRIN2B	2904	broad.mit.edu	37	12	13715749	13715749	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr12:13715749C>T	ENST00000609686.1	-	13	4632	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1475					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)	GAAAGTTTCTCATAAACATGC	0.498																																						uc001rbt.2																			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.(4423-4425)Gag>Aag		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						137	136	137					12																	13715749		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	g.chr12:13715749C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4423G>A	12.37:g.13715749C>T	ENSP00000477455:p.Glu1475Lys		Somatic					p.E1475K	NM_000834	NP_000825	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			12	4602	-			1475					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4423G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244525	0.22796	.	.	ENSG00000150086	ENST00000279593	T	0.12039	2.72	4.83	4.83	0.62350	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	N	0.16656	0.425	0.80722	D	1	B	0.25486	0.127	B	0.34489	0.184	T	0.03695	-1.1012	10	0.02654	T	1	.	18.1355	0.89618	0.0:1.0:0.0:0.0	.	1475	Q13224	NMDE2_HUMAN	K	1475	ENSP00000279593:E1475K	ENSP00000279593:E1475K	E	-	1	0	GRIN2B	13607016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.500000	0.60387	2.504000	0.84457	0.655000	0.94253	GAG		0.498	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	109	0	0	0	1	0	13	109					T	13715749	C	T	13715749	3	4	129	1	0	0	0	0	1	0	0	0	6780	835	29	2	35	2	GRIN2B	12	13715749	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		13715749	120136146	26	2221											
FBN1	2200	broad.mit.edu	37	15	48826312	48826312	+	Missense_Mutation	SNP	C	C	T	rs534859193		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:48826312C>T	ENST00000316623.5	-	8	1282	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	276	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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)		AAGTTTGTGTCCAGCAGGGCA	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		15103	0		0	False		,,,				2504	0					uc001zwx.2																			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.(826-828)gGa>gAa		Homo sapiens fibrillin 1 (FBN1), mRNA.							270	278	275					15																	48826312		2197	4296	6493	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.chr15:48826312C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.827G>A	15.37:g.48826312C>T	ENSP00000325527:p.Gly276Glu		Somatic					p.G276E	NM_000138	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	7	1222	-		all_lung(180;0.00279)	276			EGF-like 4; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.827G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045005	0.93685	.	.	ENSG00000166147	ENST00000316623	D	0.95205	-3.64	5.4	5.4	0.78164	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98429	1.0581	10	0.87932	D	0	.	19.5281	0.95214	0.0:1.0:0.0:0.0	.	276	P35555	FBN1_HUMAN	E	276	ENSP00000325527:G276E	ENSP00000325527:G276E	G	-	2	0	FBN1	46613604	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.696000	0.92011	0.655000	0.94253	GGA		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			45	282	0	0	0	1	0	45	282					T	48826312	C	T	48826312	3	4	129	1	0	0	0	0	1	0	0	0	5702	855	30	2	8024	2	FBN1	15	48826312	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		48826312	53705080	27	2222											
AP4E1	23431	broad.mit.edu	37	15	51276303	51276303	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:51276303C>T	ENST00000261842.5	+	16	2157	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	AP4E1_ENST00000560508.1_Missense_Mutation_p.S609L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	684					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTCTTGGTTCAGATGTATCT	0.383																																						uc001zyx.2																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2050-2052)tCa>tTa		Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.							140	139	139					15																	51276303		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51276303C>T	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2051C>T	15.37:g.51276303C>T	ENSP00000261842:p.Ser684Leu		Somatic				AP4E1_uc021skz.1_Missense_Mutation_p.S609L	p.S684L	NM_007347	NP_031373	WXS	Illumina GAIIx	Phase_I	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	15	2158	+			684					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2051C>T	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339678	0.81911	.	.	ENSG00000081014	ENST00000261842	T	0.23754	1.89	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.27020	-1.0086	10	0.56958	D	0.05	-10.1007	16.6229	0.84934	0.0:1.0:0.0:0.0	.	684	Q9UPM8	AP4E1_HUMAN	L	684	ENSP00000261842:S684L	ENSP00000261842:S684L	S	+	2	0	AP4E1	49063595	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	5.161000	0.64935	2.295000	0.77249	0.650000	0.86243	TCA		0.383	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	81	0	0	0	1	0	6	81					T	51276303	C	T	51276303	3	4	129	1	0	0	0	0	1	0	0	0	752	838	29	2	2113	2	AP4E1	15	51276303	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	2449991	51276303	51255089	28	2223											
ABCA9	10350	broad.mit.edu	37	17	67013890	67013890	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67013890C>G	ENST00000340001.4	-	21	3019	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	ABCA9_ENST00000370732.2_Missense_Mutation_p.Q936H|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q936H|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	936					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCTATGTTCTGTCGCCTCA	0.368																																						uc002jhu.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2806-2808)caG>caC		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							249	229	236					17																	67013890		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67013890C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2808G>C	17.37:g.67013890C>G	ENSP00000342216:p.Gln936His		Somatic				ABCA9_uc010dez.3_Missense_Mutation_p.Q936H	p.Q936H	NM_080283	NP_525022	WXS	Illumina GAIIx	Phase_I	Q8IUA7	ABCA9_HUMAN			20	2951	-	Breast(10;1.47e-12)		936					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2808G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.737613	0.30774	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.23;-2.35	5.1	3.01	0.34805	.	0.000000	0.42682	D	0.000675	D	0.93232	0.7844	M	0.84219	2.685	0.33548	D	0.595721	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93341	0.6710	10	0.87932	D	0	.	7.0398	0.25013	0.0:0.694:0.0:0.3059	.	936;936	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	936;919;936;931	ENSP00000342216:Q936H;ENSP00000359767:Q936H	ENSP00000342216:Q936H	Q	-	3	2	ABCA9	64525485	0.995000	0.38212	0.955000	0.39395	0.100000	0.18952	0.601000	0.24119	0.480000	0.27534	-0.185000	0.12909	CAG		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		21	181	0	0	0	1	0	21	181					G	67013890	C	G	67013890	3	3	129	1	0	0	0	0	1	0	0	0	39	912	32	4	2142	4	ABCA9	17	67013890	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		67013890	14181320	29	2224											
ABCA5	23461	broad.mit.edu	37	17	67261047	67261047	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67261047C>G	ENST00000392676.3	-	24	3209		c.e24-1		ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAGCTTTGATCTAAAAAAAAT	0.259																																						uc002jif.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.e23-1		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.							39	41	41					17																	67261047		2202	4293	6495	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67261047C>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3145-1G>C	17.37:g.67261047C>G			Somatic				ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	p.I1049_splice	NM_018672	NP_758424	WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			23	4363	-	Breast(10;3.72e-11)		1049					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37	c.3145_splice	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895219	0.72639	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8117	0.92059	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64772642	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.810000	0.75216	2.526000	0.85167	0.462000	0.41574	.		0.259	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Intron	4	44	0	0	0	1	0	4	44					G	67261047	C	G	67261047	5	3	129	1	0	0	0	0	0	0	1	0	35	927	32	4	1848	4	ABCA5	17	67261047	Splice_Site	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	247157	67261047	13934163	30	2225											
ZNF560	147741	broad.mit.edu	37	19	9578758	9578758	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:9578758C>G	ENST00000301480.4	-	10	1078	c.865G>C	c.(865-867)Gat>Cat	p.D289H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	289					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.D289Y(1)		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						AAGGATTTATCTTGTGTACAC	0.383																																						uc002mlp.1																			1	Substitution - Missense(1)	p.D289Y(2)	large_intestine(1)	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.(865-867)Gat>Cat		Homo sapiens zinc finger protein 560 (ZNF560), mRNA.							122	112	115					19																	9578758		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578758C>G	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.865G>C	19.37:g.9578758C>G	ENSP00000301480:p.Asp289His		Somatic				ZNF560_uc010dwr.1_Missense_Mutation_p.D183H	p.D289H	NM_152476	NP_689689	WXS	Illumina GAIIx	Phase_I	Q96MR9	ZN560_HUMAN			9	1075	-			289					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.865G>C	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693278	0.30052	.	.	ENSG00000198028	ENST00000301480	T	0.15718	2.4	1.91	0.847	0.18961	.	.	.	.	.	T	0.27524	0.0676	L	0.49126	1.545	0.09310	N	1	D	0.67145	0.996	P	0.61800	0.894	T	0.08576	-1.0715	9	0.87932	D	0	.	6.4628	0.21966	0.0:0.8305:0.0:0.1695	.	289	Q96MR9	ZN560_HUMAN	H	289	ENSP00000301480:D289H	ENSP00000301480:D289H	D	-	1	0	ZNF560	9439758	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.657000	0.24963	0.351000	0.24027	0.491000	0.48974	GAT		0.383	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		8	80	0	0	0	1	0	8	80					G	9578758	C	G	9578758	3	3	129	1	0	0	0	0	1	0	0	0	17988	913	32	4	1511	4	ZNF560	19	9578758	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		9578758	49550225	31	2226											
PPP1R13L	10848	broad.mit.edu	37	19	45901546	45901546	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:45901546C>T	ENST00000418234.2	-	2	109	c.31G>A	c.(31-33)Gac>Aac	p.D11N	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.D11N	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	11					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCCAGAAAGTCCCGCGCGCTC	0.706																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(31-33)Gac>Aac		Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.							32	36	34					19																	45901546		2202	4300	6502	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45901546C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.31G>A	19.37:g.45901546C>T	ENSP00000403902:p.Asp11Asn		Somatic				PPP1R13L_uc002pbo.3_Missense_Mutation_p.D11N|PPP1R13L_uc002pbp.2_Missense_Mutation_p.D11N	p.D11N	NM_006663	NP_006654	WXS	Illumina GAIIx	Phase_I	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	1	108	-		all_neural(266;0.224)|Ovarian(192;0.231)	11					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.31G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539873	0.45176	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58652	0.32;0.32	4.03	1.77	0.24775	.	0.533017	0.19854	N	0.104580	T	0.38134	0.1029	N	0.19112	0.55	0.21627	N	0.999617	B;B	0.24618	0.008;0.107	B;B	0.24394	0.012;0.053	T	0.30387	-0.9980	10	0.62326	D	0.03	.	7.0196	0.24907	0.0:0.7791:0.0:0.2209	.	11;11	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	N	11	ENSP00000403902:D11N;ENSP00000354218:D11N	ENSP00000354218:D11N	D	-	1	0	PPP1R13L	50593386	0.800000	0.28916	0.611000	0.29010	0.919000	0.55068	1.245000	0.32790	0.425000	0.26087	0.563000	0.77884	GAC		0.706	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		5	32	0	0	0	1	0	5	32					T	45901546	C	T	45901546	3	4	129	1	0	0	0	0	1	0	0	0	12358	855	30	2	2503	2	PPP1R13L	19	45901546	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08	36322788	45901546	13227437	32	2227											
BCL2L12	83596	broad.mit.edu	37	19	50169168	50169168	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:50169168G>A	ENST00000246785.3	+	1	346	c.88G>A	c.(88-90)Gag>Aag	p.E30K	IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.E30K|IRF3_ENST00000597198.1_5'Flank|BCL2L12_ENST00000246784.3_Missense_Mutation_p.E30K|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000377139.3_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	30					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)		CATGCAAATTGAGCGTGCACC	0.602																																						uc002ppa.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(88-90)Gag>Aag		Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.							38	39	39					19																	50169168		2203	4300	6503	SO:0001583	missense	83596				apoptosis			g.chr19:50169168G>A	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.88G>A	19.37:g.50169168G>A	ENSP00000246785:p.Glu30Lys		Somatic				IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.E30K	p.E30K	NM_138639	NP_619580	WXS	Illumina GAIIx	Phase_I	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	0	770	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	30					Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	ENST00000246785.3	37	c.88G>A	CCDS12776.1	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386792	0.11524	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.47177	0.94;0.94;0.85	3.36	1.19	0.21007	.	.	.	.	.	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16778	-1.0391	9	0.29301	T	0.29	0.2905	3.283	0.06922	0.6207:0.2416:0.1377:0.0	.	30;30	Q3SY13;Q9HB09	.;B2L12_HUMAN	K	30	ENSP00000246785:E30K;ENSP00000393803:E30K;ENSP00000246784:E30K	ENSP00000246784:E30K	E	+	1	0	BCL2L12	54860980	0.000000	0.05858	0.002000	0.10522	0.177000	0.22998	-0.175000	0.09825	0.194000	0.20326	-0.373000	0.07131	GAG		0.602	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		14	26	0	0	0	1	0	14	26					A	50169168	G	A	50169168	3	1	129	1	0	0	0	0	1	0	0	0	1370	1291	45	2	90	2	BCL2L12	19	50169168	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	4267622	50169168	8959815	33	2228											
ZNF528	84436	broad.mit.edu	37	19	52909178	52909178	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:52909178G>T	ENST00000360465.3	+	5	460	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	ZNF528_ENST00000391788.2_Missense_Mutation_p.D2Y|ZNF528_ENST00000598192.1_Missense_Mutation_p.D12Y|ZNF528_ENST00000594530.1_Missense_Mutation_p.D12Y	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	12	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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458																																						uc002pzh.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(34-36)Gat>Tat		Homo sapiens zinc finger protein 528 (ZNF528), mRNA.							198	193	195					19																	52909178		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909178G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.34G>T	19.37:g.52909178G>T	ENSP00000353652:p.Asp12Tyr		Somatic				ZNF528_uc002pzi.3_5'UTR	p.D12Y	NM_032423	NP_115799	WXS	Illumina GAIIx	Phase_I	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	4	460	+			12			KRAB.		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.34G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259950	0.23051	.	.	ENSG00000167555	ENST00000391788;ENST00000436397;ENST00000391787;ENST00000360465;ENST00000494167;ENST00000493272	T;T;T	0.12039	2.72;2.72;2.72	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.58075	0.2097	H	0.99900	4.915	0.29338	N	0.866253	D	0.89917	1.0	D	0.97110	1.0	T	0.64499	-0.6393	9	0.87932	D	0	.	11.1749	0.48593	0.0:0.0:1.0:0.0	.	12	Q3MIS6	ZN528_HUMAN	Y	2;12;12;12;2;2	ENSP00000375665:D2Y;ENSP00000375664:D12Y;ENSP00000353652:D12Y	ENSP00000353652:D12Y	D	+	1	0	ZNF528	57600990	0.949000	0.32298	0.035000	0.18076	0.012000	0.07955	3.915000	0.56409	1.141000	0.42275	0.491000	0.48974	GAT		0.458	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		16	137	0	0	0	1	0	16	137					T	52909178	G	T	52909178	3	4	129	1	0	0	0	0	1	0	0	0	17966	1174	41	4	40	4	ZNF528	19	52909178	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	2740010	52909178	6219805	34	2229											
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-	rs575458911		TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)cccfs	p.P29fs	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602																																						uc002qjm.1																			0		p.P29L(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(85-87)cccfs		Homo sapiens synaptotagmin V (SYT5), mRNA.							19	20	20					19																	55689729		2203	4299	6502	SO:0001589	frameshift_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689729delG	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.87delC	19.37:g.55689729delG	ENSP00000346265:p.Pro29fs		Somatic				SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Frame_Shift_Del_p.P29fs|SYT5_uc002qjo.1_Frame_Shift_Del_p.P29fs	p.P29fs	NM_003180	NP_003171	WXS	Illumina GAIIx	Phase_I	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	1	1147	-			29					B3KWJ8|B7Z300|Q86X72	Frame_Shift_Del	DEL	ENST00000354308.3	37	c.87delC	CCDS12919.1																																																																																				0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		2	4						2	4	---	---	---	---	-	55689729	G	-	55689729	7	5	129	1	0	1	0	1	0	0	0	0	15474	987	35	0	1101	0	SYT5	19	55689729	Frame_Shift_Del	DEL	G	TCGA-DJ-A4UT-01A-11D-A257-08	2780551	55689729	3439254	35	2230											
C20orf152	140894	broad.mit.edu	37	20	34618286	34618286	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:34618286G>C	ENST00000373973.3	+	12	1620	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.D479H			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	483																	TAGTGATGAAGATATGTGCCA	0.567																																						uc002xer.1																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18						c.(1435-1437)Gat>Cat		Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.							88	86	87					20																	34618286		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34618286G>C	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1447G>C	20.37:g.34618286G>C	ENSP00000363084:p.Asp483His		Somatic				C20orf152_uc002xes.1_3'UTR|C20orf152_uc010gfp.1_Non-coding_Transcript	p.D479H	NM_080834	NP_543024	WXS	Illumina GAIIx	Phase_I	Q96M20	CT152_HUMAN			11	1591	+	Breast(12;0.00631)		483					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.1435G>C		.	.	.	.	.	.	.	.	.	.	G	14.89	2.670970	0.47781	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.12879	2.64;2.64	5.33	2.94	0.34122	.	0.914123	0.09151	N	0.841486	T	0.19846	0.0477	L	0.42245	1.32	0.09310	N	1	D	0.53151	0.958	P	0.53313	0.723	T	0.14227	-1.0480	10	0.54805	T	0.06	-1.3745	6.5966	0.22677	0.1054:0.0:0.7128:0.1818	.	479	Q96M20-2	.	H	483;479	ENSP00000363084:D483H;ENSP00000340954:D479H	ENSP00000340954:D479H	D	+	1	0	C20orf152	34081700	0.230000	0.23740	0.329000	0.25429	0.899000	0.52679	2.005000	0.40864	1.205000	0.43262	0.491000	0.48974	GAT		0.567	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		10	88	0	0	0	1	0	10	88					C	34618286	G	C	34618286	3	2	129	1	0	0	0	0	1	0	0	0	2092	942	33	4	1481	4	C20orf152	20	34618286	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08		34618286	28407234	36	2231											
SPATA2	9825	broad.mit.edu	37	20	48522886	48522886	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:48522886G>A	ENST00000422556.1	-	3	1182	c.833C>T	c.(832-834)cCt>cTt	p.P278L	SPATA2_ENST00000289431.5_Missense_Mutation_p.P278L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P141L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	278					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTTGCCACAGGCTCCTTCCG	0.637																																						uc010gie.3																			0		p.P278P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(832-834)cCt>cTt		Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.							56	56	56					20																	48522886		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522886G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.833C>T	20.37:g.48522886G>A	ENSP00000416799:p.Pro278Leu		Somatic				SPATA2_uc002xuw.3_Missense_Mutation_p.P278L|SPATA2_uc010zyn.2_Missense_Mutation_p.P141L	p.P278L	NM_001135773	NP_006029	WXS	Illumina GAIIx	Phase_I	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	1183	-	Hepatocellular(150;0.133)		278					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.833C>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103166	0.56183	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.58652	0.33;0.33;0.32	5.05	5.05	0.67936	.	0.069405	0.64402	D	0.000015	T	0.64305	0.2586	L	0.59436	1.845	0.80722	D	1	P	0.46327	0.876	P	0.47864	0.559	T	0.69235	-0.5198	10	0.87932	D	0	-41.3362	18.5996	0.91244	0.0:0.0:1.0:0.0	.	278	Q9UM82	SPAT2_HUMAN	L	278;278;141	ENSP00000289431:P278L;ENSP00000416799:P278L;ENSP00000438855:P141L	ENSP00000289431:P278L	P	-	2	0	SPATA2	47956293	1.000000	0.71417	0.894000	0.35097	0.045000	0.14185	8.850000	0.92190	2.615000	0.88500	0.650000	0.86243	CCT		0.637	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		8	76	0	0	0	1	0	8	76					A	48522886	G	A	48522886	3	1	129	1	0	0	0	0	1	0	0	0	15004	1000	35	2	733	2	SPATA2	20	48522886	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	13904600	48522886	14502634	37	2232											
PHKA2	5256	broad.mit.edu	37	X	18970621	18970621	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:18970621C>T	ENST00000379942.4	-	3	941	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	92					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)					CCTGTCTCATCATGCACTGGA	0.478																																						uc004cyv.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.(274-276)atG>atA		Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.							173	110	131					X																	18970621		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:18970621C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.276G>A	X.37:g.18970621C>T	ENSP00000369274:p.Met92Ile		Somatic				PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Missense_Mutation_p.M34I	p.M92I	NM_000292	NP_000283	WXS	Illumina GAIIx	Phase_I	P46019	KPB2_HUMAN			2	706	-	Hepatocellular(33;0.183)		92					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.276G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331310	0.81690	.	.	ENSG00000044446	ENST00000379942	D	0.90069	-2.61	5.74	5.74	0.90152	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.84773	2.715	0.80722	D	1	B	0.28055	0.199	B	0.31751	0.135	D	0.90105	0.4187	10	0.62326	D	0.03	-31.8502	18.8392	0.92176	0.0:1.0:0.0:0.0	.	92	P46019	KPB2_HUMAN	I	92	ENSP00000369274:M92I	ENSP00000369274:M92I	M	-	3	0	PHKA2	18880542	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.776000	0.55356	2.395000	0.81488	0.600000	0.82982	ATG		0.478	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	58	0	0	0	1	0	6	58					T	18970621	C	T	18970621	3	4	129	1	0	0	0	0	1	0	0	0	11844	826	29	2	3555	2	PHKA2	23	18970621	Missense_Mutation	SNP	C	TCGA-DJ-A4UT-01A-11D-A257-08		18970621	136299939	38	2233											
RAB33A	9363	broad.mit.edu	37	X	129318340	129318340	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:129318340G>T	ENST00000257017.4	+	2	754	c.340G>T	c.(340-342)Gtc>Ttc	p.V114F		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						ACATGCCGTGGTCTTCGTCTA	0.502																																						uc004evl.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(340-342)Gtc>Ttc		Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.							161	122	135					X																	129318340		2203	4300	6503	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318340G>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.340G>T	X.37:g.129318340G>T	ENSP00000257017:p.Val114Phe		Somatic				RAB33A_uc010nre.3_Non-coding_Transcript	p.V114F	NM_004794	NP_004785	WXS	Illumina GAIIx	Phase_I	Q14088	RB33A_HUMAN			1	604	+			114					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.340G>T	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517263	0.85495	.	.	ENSG00000134594	ENST00000257017	D	0.82081	-1.57	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88428	0.3033	10	0.87932	D	0	-19.3113	17.2062	0.86918	0.0:0.0:1.0:0.0	.	114	Q14088	RB33A_HUMAN	F	114	ENSP00000257017:V114F	ENSP00000257017:V114F	V	+	1	0	RAB33A	129146021	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.706000	0.74649	2.072000	0.62099	0.429000	0.28392	GTC		0.502	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		16	47	0	0	0	1	0	16	47					T	129318340	G	T	129318340	3	4	129	1	0	0	0	0	1	0	0	0	12922	1261	44	4	346	4	RAB33A	23	129318340	Missense_Mutation	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	110347719	129318340	25952220	39	2234											
ARHGAP4	393	broad.mit.edu	37	X	153184648	153184648	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:153184648G>A	ENST00000350060.5	-	6	812	c.771C>T	c.(769-771)gtC>gtT	p.V257V	ARHGAP4_ENST00000370028.3_Silent_p.V297V|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Silent_p.V236V|ARHGAP4_ENST00000537206.1_Silent_p.V234V	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	257					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)					AGTAGTTACTGACAGCAGCGT	0.572																																						uc004fjl.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(889-891)gtC>gtT		Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 1, mRNA.							220	141	168					X																	153184648		2203	4300	6503	SO:0001819	synonymous_variant	393				Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184648G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.771C>T	X.37:g.153184648G>A			Somatic				ARHGAP4_uc011mzf.2_Silent_p.V234V|ARHGAP4_uc004fjk.2_Silent_p.V257V|ARHGAP4_uc010nup.2_Non-coding_Transcript	p.V297V	NM_001164741	NP_001158213	WXS	Illumina GAIIx	Phase_I	P98171	RHG04_HUMAN			6	949	-	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)		257					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.891C>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042786	0.19748	.	.	ENSG00000089820	ENST00000418750	.	.	.	4.44	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6652	0.28426	0.2086:0.0:0.7914:0.0	.	.	.	.	X	145	.	.	Q	-	1	0	ARHGAP4	152837842	1.000000	0.71417	0.960000	0.40013	0.927000	0.56198	2.497000	0.45354	0.800000	0.34041	0.479000	0.44913	CAG		0.572	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		9	76	0	0	0	1	0	9	76					A	153184648	G	A	153184648	2	1	129	1	0	0	0	0	0	0	0	1	885	1277	45	2		2	ARHGAP4	23	153184648	Silent	SNP	G	TCGA-DJ-A4UT-01A-11D-A257-08	23866308	153184648	2085912	40	2235											
PADI6	353238	broad.mit.edu	37	1	17720532	17720532	+	RNA	SNP	C	C	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:17720532C>T	ENST00000434762.2	+	0	1187							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATCCTCGACACACCTCAGGCC	0.542																																						uc001bak.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29						c.(1135-1137)aCa>aTa		Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	L-Citrulline(DB00155)						106	112	110					1																	17720532		2037	4173	6210			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17720532C>T	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720532C>T			Somatic					p.T379I	NM_207421	NP_997304	WXS	Illumina GAIIx	Phase_I	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	10	1136	+		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)	371					Q330K5|Q70SX3	Missense_Mutation	SNP	ENST00000434762.2	37	c.1136C>T																																																																																					0.542	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		6	29	0	0	0	1	0	6	29					T	17720532	C	T	17720532	1	4	130	0	1	0	0	0	0	0	0	0	11381	478	17	2		2	PADI6	1	17720532	RNA	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		17720532	231530089	1	2236											
OR10X1	128367	broad.mit.edu	37	1	158548923	158548923	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:158548923G>T	ENST00000368150.1	-	1	766	c.767C>A	c.(766-768)aCc>aAc	p.T256N		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T256S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGCACAGGTGGTGAAGGC	0.483																																						uc010pin.2																			1	Substitution - Missense(1)	p.T256S(2)	lung(1)	breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(766-768)aCc>aAc		Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.							143	142	143					1																	158548923		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548923G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.767C>A	1.37:g.158548923G>T	ENSP00000357132:p.Thr256Asn		Somatic					p.T256N	NM_001004477	NP_001004477	WXS	Illumina GAIIx	Phase_I	Q8NGY0	O10X1_HUMAN			0	767	-	all_hematologic(112;0.0378)		256					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.767C>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546659	0.65198	.	.	ENSG00000186400	ENST00000368150	T	0.40476	1.03	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.69967	0.3170	H	0.95437	3.67	0.42449	D	0.992742	D	0.69078	0.997	D	0.68192	0.956	T	0.80535	-0.1339	10	0.87932	D	0	.	16.7966	0.85603	0.0:0.0:1.0:0.0	.	256	Q8NGY0	O10X1_HUMAN	N	256	ENSP00000357132:T256N	ENSP00000357132:T256N	T	-	2	0	OR10X1	156815547	1.000000	0.71417	0.950000	0.38849	0.532000	0.34746	5.797000	0.69087	2.473000	0.83533	0.563000	0.77884	ACC		0.483	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		7	132	0	0	0	1	0	7	132					T	158548923	G	T	158548923	3	4	130	1	0	0	0	0	1	0	0	0	10922	1261	44	4	208	4	OR10X1	1	158548923	Missense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08	140828391	158548923	90701698	2	2237											
APC	324	broad.mit.edu	37	5	112176431	112176431	+	Missense_Mutation	SNP	G	G	T	rs148275069		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:112176431G>T	ENST00000457016.1	+	16	5520	c.5140G>T	c.(5140-5142)Gat>Tat	p.D1714Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1714Y|APC_ENST00000508376.2_Missense_Mutation_p.D1714Y			P25054	APC_HUMAN	adenomatous polyposis coli	1714	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.K1192fs*3(1)|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)		ACCTGAATTGGATGACAATAA	0.403		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)	uc003kpz.4		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(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	GRCh37	CM045451	APC	M	rs148275069	c.(5140-5142)Gat>Tat		Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.							71	72	72					5																	112176431		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.chr5:112176431G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5140G>T	5.37:g.112176431G>T	ENSP00000413133:p.Asp1714Tyr	TSP Lung(16;0.13)	Somatic				APC_uc011cvt.2_Missense_Mutation_p.D1696Y|APC_uc003kpy.4_Missense_Mutation_p.D1714Y|APC_uc010jbz.3_Missense_Mutation_p.D1431Y|APC_uc010jca.3_Missense_Mutation_p.D1014Y	p.D1714Y	NM_001127510	NP_001120982	WXS	Illumina GAIIx	Phase_I	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	5333	+		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)	1714			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5140G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697504	0.48307	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90676	-2.71;-2.71;-2.71	6.16	6.16	0.99307	.	0.124068	0.56097	D	0.000033	D	0.89181	0.6642	L	0.29908	0.895	0.53005	D	0.999962	P;P	0.49447	0.924;0.924	P;B	0.48030	0.564;0.44	D	0.86812	0.1999	9	.	.	.	-13.2105	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1716;1714	Q4LE70;P25054	.;APC_HUMAN	Y	1714	ENSP00000413133:D1714Y;ENSP00000257430:D1714Y;ENSP00000427089:D1714Y	.	D	+	1	0	APC	112204330	1.000000	0.71417	0.995000	0.50966	0.487000	0.33371	5.805000	0.69143	2.937000	0.99478	0.650000	0.86243	GAT		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		10	28	0	0	0	1	0	10	28					T	112176431	G	T	112176431	3	4	130	1	0	0	0	0	1	0	0	0	763	1174	41	4	5198	4	APC	5	112176431	Missense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08		112176431	68738829	3	2238											
NSD1	64324	broad.mit.edu	37	5	176673763	176673763	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:176673763A>G	ENST00000439151.2	+	10	4508	c.4463A>G	c.(4462-4464)aAt>aGt	p.N1488S	NSD1_ENST00000347982.4_Missense_Mutation_p.N1219S|NSD1_ENST00000361032.4_Missense_Mutation_p.N1385S|NSD1_ENST00000354179.4_Missense_Mutation_p.N1219S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1488					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)		AAAGTGAAAAATGATGACTCG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.4				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		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.(4462-4464)aAt>aGt		Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.							97	94	95					5																	176673763		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	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.chr5:176673763A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4463A>G	5.37:g.176673763A>G	ENSP00000395929:p.Asn1488Ser	HNSCC(47;0.14)	Somatic				NSD1_uc003mft.4_Missense_Mutation_p.N1219S|NSD1_uc003mfs.1_Missense_Mutation_p.N1385S|NSD1_uc011dfx.2_Missense_Mutation_p.N1136S	p.N1488S	NM_022455	NP_071900	WXS	Illumina GAIIx	Phase_I	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)	9	4601	+	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)	1488					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4463A>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	8.540	0.873091	0.17322	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.65	1.55	0.23275	.	0.253291	0.34777	N	0.003682	D	0.86188	0.5873	N	0.24115	0.695	0.22500	N	0.999045	B;B;B	0.19583	0.037;0.016;0.009	B;B;B	0.21151	0.02;0.033;0.015	T	0.73212	-0.4054	10	0.30078	T	0.28	.	3.7344	0.08504	0.5475:0.0:0.2973:0.1552	.	1219;1385;1488	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	1219;1488;1219;1385	ENSP00000346111:N1219S;ENSP00000395929:N1488S;ENSP00000343209:N1219S;ENSP00000354310:N1385S	ENSP00000343209:N1219S	N	+	2	0	NSD1	176606369	0.998000	0.40836	0.909000	0.35828	0.299000	0.27559	0.388000	0.20735	0.069000	0.16605	-0.263000	0.10527	AAT		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		16	27	0	0	0	1	0	16	27					G	176673763	A	G	176673763	3	3	130	1	0	0	0	0	1	0	0	0	10669	101	4	3	4497	3	NSD1	5	176673763	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08	64497332	176673763	4241497	4	2239											
TSPYL1	7259	broad.mit.edu	37	6	116600261	116600261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr6:116600261G>A	ENST00000368608.3	-	1	805	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	245					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTGTCGGCCTGAGCATTCACA	0.597																																						uc003pwp.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11						c.(733-735)Cag>Tag		Homo sapiens TSPY-like 1 (TSPYL1), mRNA.							80	74	76					6																	116600261		2203	4300	6503	SO:0001587	stop_gained	7259				nucleosome assembly	nucleolus		g.chr6:116600261G>A	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.733C>T	6.37:g.116600261G>A	ENSP00000357597:p.Gln245*		Somatic				DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	p.Q245*	NM_003309	NP_003300	WXS	Illumina GAIIx	Phase_I	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	0	1020	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	245					O75885|Q5TFE6	Nonsense_Mutation	SNP	ENST00000368608.3	37	c.733C>T	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	36	5.701915	0.96812	.	.	ENSG00000189241	ENST00000368608	.	.	.	4.34	4.34	0.51931	.	0.000000	0.33217	N	0.005144	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-21.0178	12.641	0.56709	0.0:0.0:1.0:0.0	.	.	.	.	X	245	.	ENSP00000357597:Q245X	Q	-	1	0	TSPYL1	116706954	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	3.091000	0.50199	2.700000	0.92200	0.561000	0.74099	CAG		0.597	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			20	36	0	0	0	1	0	20	36					A	116600261	G	A	116600261	4	1	130	1	0	0	0	0	0	1	0	0	16656	1299	45	2	584	2	TSPYL1	6	116600261	Nonsense_Mutation	SNP	G	TCGA-DJ-A4UW-01A-11D-A257-08		116600261	54514806	5	2240											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	38	0	0	0	1	0	23	38					T	140453136	A	T	140453136	3	4	130	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08		140453136	18685527	6	2241											
MAPKBP1	23005	broad.mit.edu	37	15	42114280	42114280	+	Silent	SNP	C	C	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr15:42114280C>T	ENST00000456763.2	+	26	3217	c.3021C>T	c.(3019-3021)tgC>tgT	p.C1007C	MAPKBP1_ENST00000457542.2_Silent_p.C1001C|MAPKBP1_ENST00000221214.6_Silent_p.C884C|MAPKBP1_ENST00000260357.7_Silent_p.C840C|MAPKBP1_ENST00000514566.1_Silent_p.C1001C	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1007										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)		GCAGCAGCTGCCTTTCCAGCC	0.647																																						uc001zok.4																			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.(3019-3021)tgC>tgT		Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.							18	17	17					15																	42114280		2202	4300	6502	SO:0001819	synonymous_variant	23005							g.chr15:42114280C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3021C>T	15.37:g.42114280C>T			Somatic				MAPKBP1_uc010bci.3_Silent_p.C1001C|MAPKBP1_uc010udb.2_Silent_p.C840C|MAPKBP1_uc001zoj.4_Silent_p.C1001C|MAPKBP1_uc010bcj.3_Silent_p.C508C|MAPKBP1_uc010bck.3_Silent_p.C218C|MAPKBP1_uc010bcl.3_Silent_p.C508C	p.C1007C	NM_001128608	NP_001122080	WXS	Illumina GAIIx	Phase_I	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)	25	3307	+		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)	1007					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.3021C>T	CCDS45239.1																																																																																				0.647	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		6	10	0	0	0	1	0	6	10					T	42114280	C	T	42114280	2	4	130	1	0	0	0	0	0	0	0	1	9292	747	26	2		2	MAPKBP1	15	42114280	Silent	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		42114280	60417112	7	2242											
RCVRN	5957	broad.mit.edu	37	17	9801501	9801501	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr17:9801501A>G	ENST00000226193.5	-	3	954	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	172	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCCTCAATGAATTCTTTCTCT	0.413																																						uc002gme.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(514-516)Ttc>Ctc		Homo sapiens recoverin (RCVRN), mRNA.							250	234	239					17																	9801501		2203	4300	6503	SO:0001583	missense	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9801501A>G	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.514T>C	17.37:g.9801501A>G	ENSP00000226193:p.Phe172Leu		Somatic					p.F172L	NM_002903	NP_002894	WXS	Illumina GAIIx	Phase_I	P35243	RECO_HUMAN			2	701	-			172			EF-hand 4.		Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.514T>C	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806263	0.50421	.	.	ENSG00000109047	ENST00000226193	T	0.80393	-1.37	5.21	5.21	0.72293	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92613	0.6101	10	0.87932	D	0	.	13.3028	0.60334	1.0:0.0:0.0:0.0	.	172	P35243	RECO_HUMAN	L	172	ENSP00000226193:F172L	ENSP00000226193:F172L	F	-	1	0	RCVRN	9742226	1.000000	0.71417	0.977000	0.42913	0.771000	0.43674	8.318000	0.89990	2.086000	0.62901	0.533000	0.62120	TTC		0.413	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		46	99	0	0	0	1	0	46	99					G	9801501	A	G	9801501	3	3	130	1	0	0	0	0	1	0	0	0	13186	101	4	3	92	3	RCVRN	17	9801501	Missense_Mutation	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08		9801501	71393709	8	2243											
CSF2RA	1438	broad.mit.edu	37	X	1428413	1428413	+	3'UTR	SNP	C	C	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:1428413C>T	ENST00000381524.3	+	0	1430				CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Silent_p.S355S|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						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)			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)	TCTCCGCCTCCGCGACACGGG	0.498													c|||	37	0.00738818	0	0	5008	,	,		20867	0		0	False		,,,				2504	0.0378				Esophageal Squamous(131;723 1707 25334 40494 41806)	uc004cpp.2																			0				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.(1063-1065)tcC>tcT		Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 3, mRNA.	Sargramostim(DB00020)						256	237	244					X																	1428413		2203	4296	6499	SO:0001624	3_prime_UTR_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1428413C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*41C>T	X.37:g.1428413C>T			Somatic				CRLF2_uc022brt.1_Intron|CSF2RA_uc010nct.2_3'UTR|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_3'UTR|CSF2RA_uc004cpo.2_3'UTR|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_3'UTR|CSF2RA_uc010ncv.2_3'UTR|CSF2RA_uc004cpr.2_3'UTR	p.S355S	NM_172246	NP_758449	WXS	Illumina GAIIx	Phase_I	P15509	CSF2R_HUMAN			10	1259	+		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)	0					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.1065C>T	CCDS35191.1																																																																																				0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			9	152	0	0	0	1	0	9	152					T	1428413	C	T	1428413	1	4	130	0	1	0	0	0	0	0	0	0	3934	639	23	1		1	CSF2RA	23	1428413	3'UTR	SNP	C	TCGA-DJ-A4UW-01A-11D-A257-08		1428413	153842147	9	2244											
GLA	2717	broad.mit.edu	37	X	100658838	100658838	+	Silent	SNP	A	A	C			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:100658838A>C	ENST00000218516.3	-	2	351	c.330T>G	c.(328-330)ccT>ccG	p.P110P	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	110					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						GAAAGCGCTGAGGGTCTGCCT	0.463																																					Colon(193;776 2816 31189 44474)	uc004ehl.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(328-330)ccT>ccG		Homo sapiens galactosidase, alpha (GLA), mRNA.	Agalsidase beta(DB00103)						159	139	146					X																	100658838		2203	4300	6503	SO:0001819	synonymous_variant	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	Golgi apparatus|extracellular region|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100658838A>C	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.330T>G	X.37:g.100658838A>C			Somatic				RPL36A-HNRNPH2_uc022cag.1_Intron|RPL36A-HNRNPH2_uc022cah.1_Intron|GLA_uc011mrj.1_Silent_p.P110P	p.P110P	NM_000169	NP_000160	WXS	Illumina GAIIx	Phase_I	P06280	AGAL_HUMAN			1	440	-			110					Q6LER7	Silent	SNP	ENST00000218516.3	37	c.330T>G	CCDS14484.1																																																																																				0.463	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			8	94	0	0	0	1	0	8	94					C	100658838	A	C	100658838	2	2	130	1	0	0	0	0	0	0	0	1	6426	291	11	5		5	GLA	23	100658838	Silent	SNP	A	TCGA-DJ-A4UW-01A-11D-A257-08	99230425	100658838	54611722	10	2245											
GCKR	2646	broad.mit.edu	37	2	27728639	27728639	+	Silent	SNP	C	C	T			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr2:27728639C>T	ENST00000264717.2	+	10	868	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	GCKR_ENST00000424318.2_Silent_p.L79L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	269	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CACCAAGATTCTGCTGGAAAC	0.532																																						uc002rky.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(805-807)Ctg>Ttg		Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.							100	90	94					2																	27728639		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728639C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.805C>T	2.37:g.27728639C>T			Somatic				GCKR_uc010ezd.3_Silent_p.L269L|GCKR_uc010ylu.2_Silent_p.L79L	p.L269L	NM_001486	NP_001477	WXS	Illumina GAIIx	Phase_I	Q14397	GCKR_HUMAN			9	871	+	Acute lymphoblastic leukemia(172;0.155)		269			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.805C>T	CCDS1757.1																																																																																				0.532	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		4	75	0	0	0	1	0	4	75					T	27728639	C	T	27728639	2	4	131	1	0	0	0	0	0	0	0	1	6294	912	32	2		2	GCKR	2	27728639	Silent	SNP	C	TCGA-DJ-A4V0-01A-11D-A257-08		27728639	215470734	1	2246											
EYA4	2070	broad.mit.edu	37	6	133802618	133802618	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr6:133802618C>A	ENST00000367895.5	+	12	1452	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	EYA4_ENST00000431403.2_Missense_Mutation_p.Q330K|EYA4_ENST00000430974.2_Missense_Mutation_p.Q282K|EYA4_ENST00000525849.1_Missense_Mutation_p.Q307K|EYA4_ENST00000355167.3_Missense_Mutation_p.Q330K|EYA4_ENST00000355286.6_Missense_Mutation_p.Q307K|EYA4_ENST00000452339.2_Missense_Mutation_p.Q276K|EYA4_ENST00000531901.1_Missense_Mutation_p.Q336K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	330					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CGATACCATGCAGAGTCCCTC	0.413																																					Melanoma(57;398 1237 3528 4702 7415)	uc011ecs.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1006-1008)Cag>Aag		Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.							122	127	125					6																	133802618		2203	4300	6503	SO:0001583	missense	2070				DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133802618C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.988C>A	6.37:g.133802618C>A	ENSP00000356870:p.Gln330Lys		Somatic				EYA4_uc011ecq.2_Missense_Mutation_p.Q276K|EYA4_uc011ecr.2_Missense_Mutation_p.Q282K|EYA4_uc003qec.4_Missense_Mutation_p.Q330K|EYA4_uc003qed.4_Missense_Mutation_p.Q330K|EYA4_uc003qee.4_Missense_Mutation_p.Q307K|BC041459_uc003qef.1_Intron	p.Q336K	NM_004100	NP_004091	WXS	Illumina GAIIx	Phase_I	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	11	1322	+	Colorectal(23;0.221)		330					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1006C>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017992	0.35606	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	L	0.44542	1.39	0.80722	D	1	B;B;B;P;B;B	0.46220	0.209;0.036;0.045;0.874;0.022;0.209	B;B;B;P;B;B	0.44946	0.185;0.016;0.019;0.465;0.022;0.185	T	0.70278	-0.4916	10	0.05620	T	0.96	-7.9098	19.7597	0.96309	0.0:1.0:0.0:0.0	.	336;282;276;307;330;330	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	K	276;282;330;330;307;336;307;330	ENSP00000395916:Q276K;ENSP00000388670:Q282K;ENSP00000356870:Q330K;ENSP00000347294:Q330K;ENSP00000347434:Q307K;ENSP00000432770:Q336K;ENSP00000433219:Q307K;ENSP00000404558:Q330K	ENSP00000347294:Q330K	Q	+	1	0	EYA4	133844311	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.590000	0.82653	2.665000	0.90641	0.655000	0.94253	CAG		0.413	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		13	100	0	0	0	1	0	13	100					A	133802618	C	A	133802618	3	1	131	1	0	0	0	0	1	0	0	0	5331	711	25	4	1030	4	EYA4	6	133802618	Missense_Mutation	SNP	C	TCGA-DJ-A4V0-01A-11D-A257-08		133802618	37312449	2	2247											
TCERG1L	256536	broad.mit.edu	37	10	132944819	132944819	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr10:132944819T>C	ENST00000368642.4	-	7	1224	c.1139A>G	c.(1138-1140)aAc>aGc	p.N380S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	380										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AATGATCCTGTTGAGGTCTCC	0.542																																						uc001lkp.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1138-1140)aAc>aGc		Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.							119	109	112					10																	132944819		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132944819T>C	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1139A>G	10.37:g.132944819T>C	ENSP00000357631:p.Asn380Ser		Somatic				TCERG1L_uc009yax.1_Non-coding_Transcript	p.N380S	NM_174937	NP_777597	WXS	Illumina GAIIx	Phase_I	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	6	1225	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	380					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1139A>G	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429928	0.43122	.	.	ENSG00000176769	ENST00000368642	T	0.22134	1.97	4.83	1.0	0.19881	WW/Rsp5/WWP (1);	0.142736	0.43747	D	0.000528	T	0.14399	0.0348	L	0.46157	1.445	0.39909	D	0.974008	B	0.34015	0.435	B	0.27262	0.078	T	0.06427	-1.0827	10	0.72032	D	0.01	-4.4468	5.7274	0.18020	0.0:0.1491:0.2633:0.5877	.	380	Q5VWI1	TCRGL_HUMAN	S	380	ENSP00000357631:N380S	ENSP00000357631:N380S	N	-	2	0	TCERG1L	132834809	0.999000	0.42202	0.996000	0.52242	0.904000	0.53231	2.487000	0.45268	-0.014000	0.14175	0.383000	0.25322	AAC		0.542	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		4	46	0	0	0	1	0	4	46					C	132944819	T	C	132944819	3	2	131	1	0	0	0	0	1	0	0	0	15683	1725	60	3	645	3	TCERG1L	10	132944819	Missense_Mutation	SNP	T	TCGA-DJ-A4V0-01A-11D-A257-08		132944819	2589928	3	2248											
MBIP	51562	broad.mit.edu	37	14	36783808	36783808	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr14:36783808T>C	ENST00000416007.4	-	4	568	c.481A>G	c.(481-483)Aga>Gga	p.R161G	MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.R161G|MBIP_ENST00000359527.7_Missense_Mutation_p.R161G	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	161					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GATATTCGTCTGTCAATCTAC	0.338																																						uc001wtm.2																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(481-483)Aga>Gga		Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.							63	62	63					14																	36783808		2202	4296	6498	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783808T>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.481A>G	14.37:g.36783808T>C	ENSP00000399718:p.Arg161Gly		Somatic				MBIP_uc001wto.2_Missense_Mutation_p.R161G|MBIP_uc010tpy.1_Missense_Mutation_p.R20G|MBIP_uc001wtn.2_Missense_Mutation_p.R161G	p.R161G	NM_016586	NP_057670	WXS	Illumina GAIIx	Phase_I	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	3	569	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		161					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.481A>G	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.59|15.59	2.877897|2.877897	0.51801|0.51801	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000553977|ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298;ENST00000553549	.|T;T;T	.|0.50277	.|0.75;0.75;0.75	5.84|5.84	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66015|0.66015	0.2747|0.2747	M|M	0.72353|0.72353	2.195|2.195	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D;D;D	.|0.89917	.|0.996;0.998;1.0;0.998	.|P;D;D;D	.|0.71414	.|0.895;0.957;0.973;0.969	T|T	0.68880|0.68880	-0.5292|-0.5292	5|10	.|0.72032	.|D	.|0.01	-13.795|-13.795	13.0942|13.0942	0.59182|0.59182	0.0:0.0:0.1339:0.8661|0.0:0.0:0.1339:0.8661	.|.	.|135;161;161;161	.|B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73	.|.;.;.;MBIP1_HUMAN	R|G	157|161;161;161;168;121;140	.|ENSP00000399718:R161G;ENSP00000324444:R161G;ENSP00000352517:R161G	.|ENSP00000324444:R161G	Q|R	-|-	2|1	0|2	MBIP|MBIP	35853559|35853559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.646000|4.646000	0.61411|0.61411	1.010000|1.010000	0.39314|0.39314	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.338	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		5	31	0	0	0	1	0	5	31					C	36783808	T	C	36783808	3	2	131	1	0	0	0	0	1	0	0	0	9349	1588	55	3	577	3	MBIP	14	36783808	Missense_Mutation	SNP	T	TCGA-DJ-A4V0-01A-11D-A257-08		36783808	70565732	4	2249											
MAN2B1	4125	broad.mit.edu	37	19	12777488	12777488	+	Frame_Shift_Del	DEL	C	C	-	rs558131886	byFrequency	TCGA-DJ-A4V0-01A-11D-A257-08	TCGA-DJ-A4V0-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0623e99e-5e86-4a2f-b418-13b9289ad3ec	7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476	g.chr19:12777488delC	ENST00000456935.2	-	1	68	c.28delG	c.(28-30)gtcfs	p.V10fs	WDR83_ENST00000418543.3_5'Flank|CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_Frame_Shift_Del_p.V10fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	10					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						CGAGCGCAGACCCCCGAAGCC	0.721																																						uc002mub.2																			0				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						c.(28-30)gtcfs		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							3	5	4					19																	12777488		1842	3799	5641	SO:0001589	frameshift_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12777488delC		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.28delG	19.37:g.12777488delC	ENSP00000395473:p.Val10fs		Somatic				MAN2B1_uc010dyv.1_Frame_Shift_Del_p.V10fs|WDR83_uc002muc.3_5'Flank|WDR83_uc002mue.4_5'Flank	p.V10fs	NM_000528	NP_000519	WXS	Illumina GAIIx	Phase_I	O00754	MA2B1_HUMAN			0	104	-			10					G5E928|O15330|Q16680|Q93094|Q9BW13	Frame_Shift_Del	DEL	ENST00000456935.2	37	c.28delG	CCDS32919.1																																																																																				0.721	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			2	4						2	4	---	---	---	---	-	12777488	C	-	12777488	7	5	131	1	0	1	0	1	0	0	0	0	9216	507	18	0	3103	0	MAN2B1	19	12777488	Frame_Shift_Del	DEL	C	TCGA-DJ-A4V0-01A-11D-A257-08		12777488	46351495	5	2250											
CCBP2	1238	broad.mit.edu	37	3	42906480	42906480	+	Silent	SNP	G	G	T			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr3:42906480G>T	ENST00000422265.1	+	3	661	c.486G>T	c.(484-486)ctG>ctT	p.L162L	ACKR2_ENST00000442925.1_Silent_p.L162L|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.L162L	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	162					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CCAAGAGCCTGCTCCTTGCTA	0.537																																						uc003cme.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26						c.(484-486)ctG>ctT		Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.							74	77	76					3																	42906480		2203	4300	6503	SO:0001819	synonymous_variant	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42906480G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.486G>T	3.37:g.42906480G>T			Somatic				CCBP2_uc003cmf.3_Silent_p.L162L|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.L162L	p.L162L	NM_001296	NP_001287	WXS	Illumina GAIIx	Phase_I	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	2	664	+			162					B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.486G>T	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		30	73	0	0	0	1	0	30	73					T	42906480	G	T	42906480	2	4	132	1	0	0	0	0	0	0	0	1	2734	1306	46	4		4	CCBP2	3	42906480	Silent	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		42906480	155115950	1	2251											
ATR	545	broad.mit.edu	37	3	142266707	142266707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr3:142266707G>A	ENST00000350721.4	-	16	3338	c.3217C>T	c.(3217-3219)Caa>Taa	p.Q1073*	ATR_ENST00000383101.3_Nonsense_Mutation_p.Q1009*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1073					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCAATCCTTGGAAATCTTGT	0.348								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3217-3219)Caa>Taa	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							92	94	94					3																	142266707		2203	4300	6503	SO:0001587	stop_gained	545				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142266707G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3217C>T	3.37:g.142266707G>A	ENSP00000343741:p.Gln1073*		Somatic					p.Q1073*	NM_001184	NP_001175	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			15	3339	-			1073					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.3217C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	42	9.686941	0.99238	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.533	20.2566	0.98424	0.0:0.0:1.0:0.0	.	.	.	.	X	1073;1009	.	ENSP00000343741:Q1073X	Q	-	1	0	ATR	143749397	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.010000	0.88615	2.793000	0.96121	0.561000	0.74099	CAA		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		16	32	0	0	0	1	0	16	32					A	142266707	G	A	142266707	4	1	132	1	0	0	0	0	0	1	0	0	1204	1357	47	2	4845	2	ATR	3	142266707	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08	99360227	142266707	55755723	2	2252											
TDO2	6999	broad.mit.edu	37	4	156825198	156825198	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr4:156825198G>T	ENST00000536354.2	+	2	128	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		CCCCGTAGAAGGCAGCGAAGA	0.388																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(64-66)Ggc>Tgc		Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	L-Tryptophan(DB00150)						85	86	86					4																	156825198		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156825198G>T		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.64G>T	4.37:g.156825198G>T	ENSP00000444788:p.Gly22Cys		Somatic					p.G22C	NM_005651	NP_005642	WXS	Illumina GAIIx	Phase_I	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	1	128	+	all_hematologic(180;0.24)	Renal(120;0.0854)	22						Missense_Mutation	SNP	ENST00000536354.2	37	c.64G>T	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404254	0.42613	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.59	3.85	0.44370	.	0.430807	0.28349	N	0.015666	T	0.37919	0.1021	L	0.46157	1.445	0.33113	D	0.540753	P	0.40660	0.726	B	0.32980	0.156	T	0.53746	-0.8395	9	0.56958	D	0.05	-1.0563	12.4964	0.55931	0.1376:0.0:0.8624:0.0	.	22	P48775	T23O_HUMAN	C	22	.	ENSP00000281525:G22C	G	+	1	0	TDO2	157044648	1.000000	0.71417	0.028000	0.17463	0.678000	0.39670	4.823000	0.62694	0.714000	0.32081	0.650000	0.86243	GGC		0.388	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		20	36	0	0	0	1	0	20	36					T	156825198	G	T	156825198	3	4	132	1	0	0	0	0	1	0	0	0	15724	1000	35	4	70	4	TDO2	4	156825198	Missense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		156825198	34329078	3	2253											
CDH9	1007	broad.mit.edu	37	5	26903745	26903745	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr5:26903745C>T	ENST00000231021.4	-	6	1172		c.e6+1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGAAAAGAAACCTGTTTGACA	0.383																																					Melanoma(8;187 585 15745 40864 52829)	uc010iug.3																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1000-1002)Gtt>Att		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							202	187	192					5																	26903745		2203	4300	6503	SO:0001630	splice_region_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903745C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.999+1G>A	5.37:g.26903745C>T			Somatic				CDH9_uc003jgs.1_Splice_Site_p.Q333_splice	p.V334I	NM_016279	NP_057363	WXS	Illumina GAIIx	Phase_I	Q9ULB4	CADH9_HUMAN			5	1169	-			0			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1000G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808678	0.90707	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.906	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH9	26939502	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.747000	0.85070	2.881000	0.98747	0.650000	0.86243	.		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Intron	7	183	0	0	0	1	0	7	183					T	26903745	C	T	26903745	5	4	132	1	0	0	0	0	0	0	1	0	3117	521	18	2	1397	2	CDH9	5	26903745	Splice_Site	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		26903745	154011515	4	2254											
CD74	972	broad.mit.edu	37	5	149784320	149784321	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr5:149784320_149784321delCT	ENST00000009530.7	-	6	548_549	c.547_548delAG	c.(547-549)agcfs	p.S183fs	CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Frame_Shift_Del_p.S183fs|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	183					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCATCCAGCTCTCAAAGACC	0.559			T	ROS1	NSCLC																																	uc003lsc.3				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(547-549)agcfs		Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding	g.chr5:149784320_149784321delCT		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.547_548delAG	5.37:g.149784322_149784323delCT	ENSP00000009530:p.Ser183fs		Somatic				CD74_uc003lsd.3_Frame_Shift_Del_p.S183fs|CD74_uc003lse.3_Intron	p.S183fs	NM_001025159	NP_001020330	WXS	Illumina GAIIx	Phase_I	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	734_735	-		all_hematologic(541;0.224)	183					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Frame_Shift_Del	DEL	ENST00000009530.7	37	c.547_548delAG	CCDS47309.1																																																																																				0.559	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		2	4						2	4	---	---	---	---	-	149784321	CT	-	149784320	7	5	132	1	0	1	0	1	0	0	0	0	3035	797	28	0	358	0	CD74	5	149784320	Frame_Shift_Del	DEL	CT	TCGA-DJ-A4V2-01A-11D-A257-08	122880575	149784320	31130940	5	2255											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	43	0	0	0	1	0	26	43					T	140453136	A	T	140453136	3	4	132	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4V2-01A-11D-A257-08		140453136	18685527	6	2256											
CEP164	22897	broad.mit.edu	37	11	117280645	117280645	+	Missense_Mutation	SNP	G	G	A	rs200520898		TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr11:117280645G>A	ENST00000278935.3	+	30	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1354					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)		AACGGTGGACGACTTCCTGTT	0.587																																						uc001prc.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4060-4062)Gac>Aac		Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.		G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	60	62	61		4060	3.3	1.0	11		61	4,8588	3.0+/-9.4	0,4,4292	yes	missense	CEP164	NM_014956.4	23	0,5,6492	AA,AG,GG		0.0466,0.0227,0.0385	probably-damaging	1354/1461	117280645	5,12989	2201	4296	6497	SO:0001583	missense	22897				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus		g.chr11:117280645G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4060G>A	11.37:g.117280645G>A	ENSP00000278935:p.Asp1354Asn		Somatic				CEP164_uc001prb.3_Missense_Mutation_p.D1349N|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.D779N	p.D1354N	NM_014956	NP_055771	WXS	Illumina GAIIx	Phase_I	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	29	4207	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1354					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4060G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602001	0.46423	2.27E-4	4.66E-4	ENSG00000110274	ENST00000278935	T	0.28255	1.62	4.4	3.35	0.38373	.	0.259238	0.27535	N	0.018926	T	0.19287	0.0463	L	0.50333	1.59	0.26284	N	0.978237	B;B	0.32350	0.366;0.366	B;B	0.17722	0.019;0.019	T	0.12889	-1.0530	10	0.39692	T	0.17	-11.3448	2.7669	0.05322	0.2339:0.2934:0.4727:0.0	.	1354;1349	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	N	1354	ENSP00000278935:D1354N	ENSP00000278935:D1354N	D	+	1	0	CEP164	116785855	0.980000	0.34600	0.989000	0.46669	0.615000	0.37417	2.265000	0.43311	2.006000	0.58801	0.561000	0.74099	GAC		0.587	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		25	61	0	0	0	1	0	25	61					A	117280645	G	A	117280645	3	1	132	1	0	0	0	0	1	0	0	0	3249	1058	37	1	4170	1	CEP164	11	117280645	Missense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		117280645	17725871	7	2257											
GJD2	57369	broad.mit.edu	37	15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr15:35045227G>A	ENST00000290374.4	-	2	894	c.418C>T	c.(418-420)Cga>Tga	p.R140*	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	140					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTATCTTCTCGTTTGCCCCCA	0.532																																						uc001zis.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(418-420)Cga>Tga		Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.							130	135	133					15																	35045227		2201	4298	6499	SO:0001587	stop_gained	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045227G>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.418C>T	15.37:g.35045227G>A	ENSP00000290374:p.Arg140*		Somatic				AK092087_uc001zit.1_5'Flank	p.R140*	NM_020660	NP_065711	WXS	Illumina GAIIx	Phase_I	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	1	418	-		all_lung(180;9.67e-07)	140					Q2M241|Q9P2R0	Nonsense_Mutation	SNP	ENST00000290374.4	37	c.418C>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	39	7.644941	0.98409	.	.	ENSG00000159248	ENST00000290374	.	.	.	5.44	3.48	0.39840	.	1.388510	0.04567	N	0.392577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.2373	0.54522	0.0:0.0:0.6906:0.3094	.	.	.	.	X	140	.	ENSP00000290374:R140X	R	-	1	2	GJD2	32832519	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	2.424000	0.44714	0.778000	0.33520	0.650000	0.86243	CGA		0.532	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			40	132	0	0	0	1	0	40	132					A	35045227	G	A	35045227	4	1	132	1	0	0	0	0	0	1	0	0	6417	1153	40	1	551	1	GJD2	15	35045227	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08		35045227	67486165	8	2258											
CPD	1362	broad.mit.edu	37	17	28706683	28706683	+	Frame_Shift_Del	DEL	C	C	-	rs530282755		TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr17:28706683delC	ENST00000225719.4	+	1	761	c.685delC	c.(685-687)cccfs	p.P230fs	CPD_ENST00000543464.2_5'Flank	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	230	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CACCGGCGAACCCCCCGCCCT	0.701																																						uc002hfb.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(685-687)cccfs		Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28706683delC	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.685delC	17.37:g.28706683delC	ENSP00000225719:p.Pro230fs		Somatic				CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank	p.P229fs	NM_001304	NP_001295	WXS	Illumina GAIIx	Phase_I	O75976	CBPD_HUMAN			0	742	+			229			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Frame_Shift_Del	DEL	ENST00000225719.4	37	c.685delC	CCDS11257.1																																																																																				0.701	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		3	5						3	5	---	---	---	---	-	28706683	C	-	28706683	7	5	132	1	0	1	0	1	0	0	0	0	3798	507	18	0	687	0	CPD	17	28706683	Frame_Shift_Del	DEL	C	TCGA-DJ-A4V2-01A-11D-A257-08		28706683	52488527	9	2259											
GPR179	440435	broad.mit.edu	37	17	36486995	36486995	+	Silent	SNP	G	G	A			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr17:36486995G>A	ENST00000342292.4	-	11	2477	c.2457C>T	c.(2455-2457)agC>agT	p.S819S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	819					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTTGTGGGCGCTGGCTGACC	0.652																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2455-2457)agC>agT		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							10	12	11					17																	36486995		1908	4091	5999	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486995G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2457C>T	17.37:g.36486995G>A			Somatic					p.S819S	NM_001004334	NP_001004334	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			10	2478	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	819						Silent	SNP	ENST00000342292.4	37	c.2457C>T	CCDS42308.1																																																																																				0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	5	0	0	0	1	0	5	5					A	36486995	G	A	36486995	2	1	132	1	0	0	0	0	0	0	0	1	6674	1078	38	1		1	GPR179	17	36486995	Silent	SNP	G	TCGA-DJ-A4V2-01A-11D-A257-08	7780312	36486995	44708215	10	2260											
CLTCL1	8218	broad.mit.edu	37	22	19222058	19222058	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4V2-01A-11D-A257-08	TCGA-DJ-A4V2-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ac429-f523-4c6c-b4d6-0de91d50a945	47627937-0a98-41cf-ac54-096a2900b4ae	g.chr22:19222058C>T	ENST00000263200.10	-	7	1213	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A381T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A381T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	381	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCAACTTTGGCGGCTTCAGCA	0.453			T	?	ALCL																																	uc021wle.1				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1141-1143)Gcc>Acc		Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.							44	44	44					22																	19222058		1893	4120	6013	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19222058C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1141G>A	22.37:g.19222058C>T	ENSP00000445677:p.Ala381Thr		Somatic				CLTCL1_uc021wld.1_Missense_Mutation_p.A381T|CLTCL1_uc021wlc.1_Missense_Mutation_p.A381T|CLTCL1_uc021wlf.1_Missense_Mutation_p.A381T|CLTCL1_uc011agw.1_Missense_Mutation_p.A381T	p.A381T	NM_007098	NP_009029	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			6	1216	-	Colorectal(54;0.0993)		381			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.1141G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973458	0.74246	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.57907	0.37;0.37;0.37	3.29	3.29	0.37713	Armadillo-type fold (1);	0.079527	0.49305	D	0.000154	T	0.69396	0.3106	M	0.93197	3.39	0.80722	D	1	P;B	0.40970	0.734;0.233	P;B	0.46076	0.503;0.234	T	0.80306	-0.1438	10	0.66056	D	0.02	-9.9549	15.0953	0.72229	0.0:1.0:0.0:0.0	.	381;381	P53675-2;P53675	.;CLH2_HUMAN	T	381	ENSP00000439662:A381T;ENSP00000445677:A381T;ENSP00000441158:A381T	ENSP00000445677:A381T	A	-	1	0	CLTCL1	17602058	0.999000	0.42202	1.000000	0.80357	0.860000	0.49131	4.094000	0.57721	1.847000	0.53656	0.460000	0.39030	GCC		0.453	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	31	0	0	0	1	0	3	31					T	19222058	C	T	19222058	3	4	132	1	0	0	0	0	1	0	0	0	3567	768	27	1	3885	1	CLTCL1	22	19222058	Missense_Mutation	SNP	C	TCGA-DJ-A4V2-01A-11D-A257-08		19222058	32082508	11	2261											
CRB1	23418	broad.mit.edu	37	1	197391022	197391022	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr1:197391022C>G	ENST00000367400.3	+	6	2199	c.2064C>G	c.(2062-2064)atC>atG	p.I688M	CRB1_ENST00000538660.1_Missense_Mutation_p.I688M|CRB1_ENST00000535699.1_Missense_Mutation_p.I619M|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367397.1_Missense_Mutation_p.I69M|CRB1_ENST00000544212.1_Missense_Mutation_p.I169M|CRB1_ENST00000367399.2_Missense_Mutation_p.I576M	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	688	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GACGCTGCATCAACTTGTGGC	0.512																																						uc001gtz.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(2062-2064)atC>atG		Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.							77	76	76					1																	197391022		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197391022C>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2064C>G	1.37:g.197391022C>G	ENSP00000356370:p.Ile688Met		Somatic				CRB1_uc010poz.2_Missense_Mutation_p.I619M|CRB1_uc009wza.3_Missense_Mutation_p.I576M|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.I688M|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.I169M|CRB1_uc001gub.1_Missense_Mutation_p.I337M	p.I688M	NM_201253	NP_957705	WXS	Illumina GAIIx	Phase_I	P82279	CRUM1_HUMAN			5	2273	+			688			EGF-like 12.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2064C>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495573	0.26774	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;T	0.80304	-0.22;-1.36;-0.22;-1.36;-1.36;-1.36	5.65	3.73	0.42828	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.84826	0.5558	L	0.56769	1.78	0.33940	D	0.643168	P;P;D;B;P	0.61080	0.889;0.775;0.989;0.167;0.845	P;P;P;B;P	0.59546	0.597;0.515;0.859;0.085;0.626	D	0.87790	0.2618	9	0.48119	T	0.1	.	12.6397	0.56702	0.1322:0.7408:0.1269:0.0	.	688;619;576;337;688	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	M	619;688;688;576;169;69;337	ENSP00000438786:I619M;ENSP00000438091:I688M;ENSP00000356370:I688M;ENSP00000356369:I576M;ENSP00000444556:I169M;ENSP00000356367:I69M	ENSP00000356367:I69M	I	+	3	3	CRB1	195657645	1.000000	0.71417	0.494000	0.27515	0.003000	0.03518	2.017000	0.40981	0.690000	0.31570	-0.188000	0.12872	ATC		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		9	60	0	0	0	1	0	9	60					G	197391022	C	G	197391022	3	3	133	1	0	0	0	0	1	0	0	0	3848	816	29	4	2086	4	CRB1	1	197391022	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		197391022	51859599	1	2262											
C2orf86	51057	broad.mit.edu	37	2	63401895	63401895	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:63401895C>G	ENST00000272321.7	-	15	2515	c.1988G>C	c.(1987-1989)gGa>gCa	p.G663A	WDPCP_ENST00000409120.1_Missense_Mutation_p.G471A|WDPCP_ENST00000398544.3_Missense_Mutation_p.G504A|WDPCP_ENST00000409199.1_Missense_Mutation_p.G471A	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	663					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGAGTCTTCTCCTTGAGGTGC	0.418																																						uc002sch.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(1987-1989)gGa>gCa		Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.							160	147	151					2																	63401895		1859	4092	5951	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63401895C>G		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1988G>C	2.37:g.63401895C>G	ENSP00000272321:p.Gly663Ala		Somatic				WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.G504A|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.G471A	p.G663A	NM_015910	NP_056994	WXS	Illumina GAIIx	Phase_I	O95876	FRITZ_HUMAN			14	2450	-			663					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1988G>C	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112834	0.08831	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.70282	-0.47;0.11;0.11;0.11	5.51	1.29	0.21616	.	0.306550	0.22912	N	0.054126	T	0.47303	0.1438	N	0.19112	0.55	0.21933	N	0.99947	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.19192	-1.0313	10	0.17369	T	0.5	-1.6933	5.7207	0.17985	0.0:0.3929:0.4145:0.1925	.	663;504	O95876;O95876-3	FRITZ_HUMAN;.	A	663;471;471;504	ENSP00000272321:G663A;ENSP00000386592:G471A;ENSP00000386769:G471A;ENSP00000381552:G504A	ENSP00000272321:G663A	G	-	2	0	WDPCP	63255399	0.239000	0.23836	0.589000	0.28718	0.893000	0.52053	0.149000	0.16243	0.248000	0.21435	-0.428000	0.05917	GGA		0.418	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		8	72	0	0	0	1	0	8	72					G	63401895	C	G	63401895	3	3	133	1	0	0	0	0	1	0	0	0	2201	855	30	4	268	4	C2orf86	2	63401895	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		63401895	179797478	2	2263											
AFTPH	54812	broad.mit.edu	37	2	64779995	64779995	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64779995G>A	ENST00000422803.1	+	2	1701	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	AFTPH_ENST00000238856.4_Missense_Mutation_p.E463K|AFTPH_ENST00000238855.7_Missense_Mutation_p.E463K|AFTPH_ENST00000409183.1_Missense_Mutation_p.E94K|AFTPH_ENST00000409933.1_Missense_Mutation_p.E463K			Q6ULP2	AFTIN_HUMAN	aftiphilin	463					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CACTTTTGAAGAGTCTTCAGA	0.408																																						uc002sdc.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1387-1389)Gag>Aag		Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.							156	151	152					2																	64779995		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779995G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1387G>A	2.37:g.64779995G>A	ENSP00000397726:p.Glu463Lys		Somatic				AFTPH_uc002scz.3_Missense_Mutation_p.E463K|AFTPH_uc002sda.3_Missense_Mutation_p.E463K|AFTPH_uc002sdb.3_Missense_Mutation_p.E463K	p.E463K	NM_203437	NP_982261	WXS	Illumina GAIIx	Phase_I	Q6ULP2	AFTIN_HUMAN			0	1419	+			463					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1387G>A		.	.	.	.	.	.	.	.	.	.	G	12.58	1.980426	0.34942	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.44482	1.92;1.92;1.92;1.92;0.92	6.06	4.26	0.50523	.	0.322570	0.33792	N	0.004544	T	0.32585	0.0834	L	0.38531	1.155	0.24268	N	0.995256	B;B;P;P	0.49559	0.01;0.01;0.925;0.925	B;B;B;B	0.44163	0.006;0.006;0.443;0.443	T	0.13150	-1.0520	10	0.33141	T	0.24	-4.3233	8.1313	0.31029	0.2879:0.0:0.7121:0.0	.	463;463;463;463	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	463;463;463;463;94	ENSP00000238856:E463K;ENSP00000397726:E463K;ENSP00000238855:E463K;ENSP00000387071:E463K;ENSP00000386913:E94K	ENSP00000238855:E463K	E	+	1	0	AFTPH	64633499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.597000	0.36729	1.567000	0.49668	0.650000	0.86243	GAG		0.408	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		15	114	0	0	0	1	0	15	114					A	64779995	G	A	64779995	3	1	133	1	0	0	0	0	1	0	0	0	364	943	33	2	1389	2	AFTPH	2	64779995	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	1378100	64779995	178419378	3	2264			1	8		2	2	31	G		2.22889e-05
AFTPH	54812	broad.mit.edu	37	2	64780025	64780025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:64780025G>T	ENST00000422803.1	+	2	1731	c.1417G>T	c.(1417-1419)Gaa>Taa	p.E473*	AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E473*|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E473*|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Nonsense_Mutation_p.E104*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E473*			Q6ULP2	AFTIN_HUMAN	aftiphilin	473					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACATTTTAGTGAACCAGGTGA	0.403																																						uc002sdc.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1417-1419)Gaa>Taa		Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.							130	129	129					2																	64780025		2203	4300	6503	SO:0001587	stop_gained	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780025G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1417G>T	2.37:g.64780025G>T	ENSP00000397726:p.Glu473*		Somatic				AFTPH_uc002scz.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sda.3_Nonsense_Mutation_p.E473*|AFTPH_uc002sdb.3_Nonsense_Mutation_p.E473*	p.E473*	NM_203437	NP_982261	WXS	Illumina GAIIx	Phase_I	Q6ULP2	AFTIN_HUMAN			0	1449	+			473					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37	c.1417G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.818756	0.98966	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	.	.	.	6.06	5.18	0.71444	.	0.335724	0.31020	N	0.008406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-9.9184	9.5065	0.39051	0.165:0.0:0.835:0.0	.	.	.	.	X	473;473;473;473;104	.	ENSP00000238855:E473X	E	+	1	0	AFTPH	64633529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.252000	0.32874	2.880000	0.98712	0.650000	0.86243	GAA		0.403	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	119	0	0	0	1	0	7	119					T	64780025	G	T	64780025	4	4	133	1	0	0	0	0	0	1	0	0	364	1291	45	4	1419	4	AFTPH	2	64780025	Nonsense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	30	64780025	178419348	4	2265			1	8		2	2	31	G		2.22889e-05
CUL3	8452	broad.mit.edu	37	2	225362566	225362566	+	Splice_Site	SNP	C	C	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:225362566C>A	ENST00000264414.4	-	12	1949	c.1611G>T	c.(1609-1611)agG>agT	p.R537S	CUL3_ENST00000344951.4_Splice_Site_p.R471S|CUL3_ENST00000409096.1_Splice_Site_p.R513S|CUL3_ENST00000409777.1_Splice_Site_p.R513S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	537					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAGTAGAACCTTCAGTAAA	0.373																																						uc010fwy.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.e12-1		Homo sapiens cullin 3 (CUL3), mRNA.							119	111	114					2																	225362566		2203	4300	6503	SO:0001630	splice_region_variant	8452				G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225362566C>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1611-1G>T	2.37:g.225362566C>A			Somatic				CUL3_uc010zls.1_Splice_Site_p.R471_splice|CUL3_uc002vny.2_Splice_Site_p.R537_splice	p.R543_splice	NM_003590	NP_003581	WXS	Illumina GAIIx	Phase_I	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	12	1682	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	537					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37	c.1629_splice	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598958	0.13939	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.16	5.28	0.74379	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	L	0.31420	0.93	0.80722	D	1	B;B;B	0.15141	0.012;0.003;0.003	B;B;B	0.15484	0.008;0.007;0.013	T	0.44050	-0.9353	10	0.07813	T	0.8	.	9.4501	0.38721	0.0:0.8484:0.0:0.1516	.	471;515;537	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	S	537;471;513;513	ENSP00000264414:R537S;ENSP00000343601:R471S;ENSP00000387200:R513S;ENSP00000386525:R513S	ENSP00000264414:R537S	R	-	3	2	CUL3	225070810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.937000	0.28951	2.937000	0.99478	0.650000	0.86243	AGG		0.373	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Missense_Mutation	5	48	0	0	0	1	0	5	48					A	225362566	C	A	225362566	5	1	133	1	0	0	0	0	0	0	1	0	4056	521	18	4	715	4	CUL3	2	225362566	Splice_Site	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	160582541	225362566	17836807	5	2266											
PPP1R7	5510	broad.mit.edu	37	2	242109234	242109234	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr2:242109234C>G	ENST00000234038.6	+	9	1332	c.858C>G	c.(856-858)atC>atG	p.I286M	PPP1R7_ENST00000272983.8_Missense_Mutation_p.I243M|PPP1R7_ENST00000407025.1_Missense_Mutation_p.I286M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	286					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CAAATAGAATCAAAAAGATTG	0.378																																					NSCLC(62;446 1299 5417 11238 27640)	uc002wat.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(856-858)atC>atG		Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.							105	103	104					2																	242109234		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242109234C>G	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.858C>G	2.37:g.242109234C>G	ENSP00000234038:p.Ile286Met		Somatic				PPP1R7_uc010fzm.1_Missense_Mutation_p.I270M|PPP1R7_uc002wau.1_Missense_Mutation_p.I243M	p.I286M	NM_002712	NP_002703	WXS	Illumina GAIIx	Phase_I	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	8	867	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	286					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.858C>G	CCDS2546.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.66|17.66|17.66	3.444229|3.444229|3.444229	0.63067|0.63067|0.63067	.|.|.	.|.|.	ENSG00000115685|ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038|ENST00000415769|ENST00000450367	T;T;T;T;T|.|.	0.30981|.|.	1.51;2.0;2.0;2.0;2.0|.|.	5.61|5.61|5.61	-0.118|-0.118|-0.118	0.13547|0.13547|0.13547	.|.|.	0.049336|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.79907|0.79907|.	0.4527|0.4527|.	H|H|H	0.94462|0.94462|0.94462	3.54|3.54|3.54	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	0.998;1.0;0.996;0.996|.|.	D;D;D;D|.|.	0.78314|.|.	0.927;0.991;0.923;0.945|.|.	T|T|.	0.79881|0.79881|.	-0.1616|-0.1616|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-22.1766|-22.1766|-22.1766	9.8914|9.8914|9.8914	0.41292|0.41292|0.41292	0.5417:0.3931:0.0:0.0652|0.5417:0.3931:0.0:0.0652|0.5417:0.3931:0.0:0.0652	.|.|.	270;227;243;286|.|.	C9JD73;C9J177;Q15435-2;Q15435|.|.	.;.;.;PP1R7_HUMAN|.|.	M|E|X	270;227;286;243;286|8|261	ENSP00000396376:I270M;ENSP00000412092:I227M;ENSP00000385657:I286M;ENSP00000272983:I243M;ENSP00000234038:I286M|.|.	ENSP00000234038:I286M|.|.	I|Q|S	+|+|+	3|1|2	3|0|0	PPP1R7|PPP1R7|PPP1R7	241757907|241757907|241757907	0.877000|0.877000|0.877000	0.30153|0.30153|0.30153	0.978000|0.978000|0.978000	0.43139|0.43139|0.43139	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	0.030000|0.030000|0.030000	0.13688|0.13688|0.13688	-0.348000|-0.348000|-0.348000	0.08286|0.08286|0.08286	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAA|TCA		0.378	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		5	43	0	0	0	1	0	5	43					G	242109234	C	G	242109234	3	3	133	1	0	0	0	0	1	0	0	0	12376	816	29	4	892	4	PPP1R7	2	242109234	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	16746668	242109234	1090139	6	2267											
MTMR12	54545	broad.mit.edu	37	5	32274215	32274215	+	Silent	SNP	A	A	G			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:32274215A>G	ENST00000382142.3	-	3	326	c.156T>C	c.(154-156)ctT>ctC	p.L52L	MTMR12_ENST00000264934.5_Silent_p.L52L|MTMR12_ENST00000280285.5_Silent_p.L52L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	52						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGCTTCACAAAGCAGCTGTT	0.468																																						uc003jhq.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(154-156)ctT>ctC		Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.							134	121	125					5																	32274215		2203	4300	6503	SO:0001819	synonymous_variant	54545					cytoplasm	phosphatase activity	g.chr5:32274215A>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.156T>C	5.37:g.32274215A>G			Somatic				MTMR12_uc010iuk.3_Silent_p.L52L|MTMR12_uc010iul.3_Silent_p.L52L	p.L52L	NM_001040446	NP_001035536	WXS	Illumina GAIIx	Phase_I	Q9C0I1	MTMRC_HUMAN			2	326	-			52					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	ENST00000382142.3	37	c.156T>C	CCDS34138.1																																																																																				0.468	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		27	62	0	0	0	1	0	27	62					G	32274215	A	G	32274215	2	3	133	1	0	0	0	0	0	0	0	1	9941	1	1	3		3	MTMR12	5	32274215	Silent	SNP	A	TCGA-DJ-A4V4-01A-11D-A257-08		32274215	148641045	7	2268											
MAP1B	4131	broad.mit.edu	37	5	71490881	71490881	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:71490881G>A	ENST00000296755.7	+	5	1997	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	567					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAACCCCTGAGGTCACAAA	0.443																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1699-1701)Gag>Aag		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							49	51	50					5																	71490881		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490881G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1699G>A	5.37:g.71490881G>A	ENSP00000296755:p.Glu567Lys		Somatic				MAP1B_uc010iyw.1_Missense_Mutation_p.E584K|MAP1B_uc010iyx.1_Missense_Mutation_p.E441K|MAP1B_uc010iyy.1_Missense_Mutation_p.E441K	p.E567K	NM_005909	NP_005900	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	1940	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	567					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.1699G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935126	0.34189	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03717	3.83;3.83;3.83	5.63	5.63	0.86233	.	0.483185	0.20482	N	0.091474	T	0.07638	0.0192	L	0.58101	1.795	0.58432	D	0.999998	P;B	0.34562	0.457;0.321	B;B	0.33890	0.172;0.056	T	0.13953	-1.0490	10	0.54805	T	0.06	-0.7519	19.6914	0.96002	0.0:0.0:1.0:0.0	.	441;567	A2BDK6;P46821	.;MAP1B_HUMAN	K	567;584;441	ENSP00000296755:E567K;ENSP00000423444:E584K;ENSP00000423416:E441K	ENSP00000296755:E567K	E	+	1	0	MAP1B	71526637	1.000000	0.71417	0.305000	0.25099	0.050000	0.14768	7.990000	0.88215	2.644000	0.89710	0.563000	0.77884	GAG		0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		3	29	0	0	0	1	0	3	29					A	71490881	G	A	71490881	3	1	133	1	0	0	0	0	1	0	0	0	9228	1291	45	2	1717	2	MAP1B	5	71490881	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	39216666	71490881	109424379	8	2269											
SPINK5	11005	broad.mit.edu	37	5	147480098	147480098	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr5:147480098G>C	ENST00000256084.7	+	13	1216	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.D392H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D392H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	392	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCCAGATGGGAAAGT	0.483																																						uc003loy.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1174-1176)Gat>Cat		Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 1, mRNA.							152	151	151					5																	147480098		1972	4176	6148	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147480098G>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1174G>C	5.37:g.147480098G>C	ENSP00000256084:p.Asp392His		Somatic				SPINK5_uc010jgs.1_Missense_Mutation_p.D364H|SPINK5_uc010jgr.2_Missense_Mutation_p.D373H|SPINK5_uc003low.2_Missense_Mutation_p.D392H|SPINK5_uc003lox.2_Missense_Mutation_p.D392H	p.D392H	NM_001127698	NP_001121170	WXS	Illumina GAIIx	Phase_I	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1247	+			392			Kazal-like 6.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1174G>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146477	0.57044	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.69	4.69	0.59074	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.38492	N	0.001678	T	0.41834	0.1176	M	0.86343	2.81	0.34331	D	0.687647	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;1.0;1.0	T	0.60642	-0.7223	10	0.87932	D	0	-17.1773	13.3235	0.60447	0.0:0.0:1.0:0.0	.	373;392;392;392	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	392;392;373;392	ENSP00000381472:D392H;ENSP00000352936:D392H;ENSP00000421519:D373H;ENSP00000256084:D392H	ENSP00000256084:D392H	D	+	1	0	SPINK5	147460291	0.999000	0.42202	0.973000	0.42090	0.494000	0.33585	4.186000	0.58337	2.612000	0.88384	0.591000	0.81541	GAT		0.483	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		7	52	0	0	0	1	0	7	52					C	147480098	G	C	147480098	3	2	133	1	0	0	0	0	1	0	0	0	15061	942	33	4	1224	4	SPINK5	5	147480098	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	75989217	147480098	33435162	9	2270											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	50	0	0	0	1	0	17	50					T	140453136	A	T	140453136	3	4	133	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DJ-A4V4-01A-11D-A257-08		140453136	18685527	10	2271											
PTPRN2	5799	broad.mit.edu	37	7	157874039	157874039	+	Silent	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr7:157874039C>T	ENST00000389418.4	-	11	1683	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	PTPRN2_ENST00000389413.3_Silent_p.V529V|PTPRN2_ENST00000404321.2_Silent_p.V581V|PTPRN2_ENST00000389416.4_Silent_p.V541V|PTPRN2_ENST00000409483.1_Silent_p.V520V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	558					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATTGGCGCTCACTTTGAAGG	0.498																																						uc011kwa.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1741-1743)gtG>gtA		Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.							307	215	246					7																	157874039		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157874039C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1674G>A	7.37:g.157874039C>T			Somatic				PTPRN2_uc003wno.3_Silent_p.V558V|PTPRN2_uc003wnp.3_Silent_p.V541V|PTPRN2_uc003wnq.3_Silent_p.V529V|PTPRN2_uc003wnr.3_Silent_p.V520V	p.V581V	NM_002847	NP_002838	WXS	Illumina GAIIx	Phase_I	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	10	1913	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	558					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.1743G>A	CCDS5947.1																																																																																				0.498	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			4	54	0	0	0	1	0	4	54					T	157874039	C	T	157874039	2	4	133	1	0	0	0	0	0	0	0	1	12808	813	29	2		2	PTPRN2	7	157874039	Silent	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	17420903	157874039	1264624	11	2272											
RABGAP1	23637	broad.mit.edu	37	9	125832650	125832650	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:125832650G>A	ENST00000373647.4	+	15	2064	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	RABGAP1_ENST00000373643.5_5'UTR|RABGAP1_ENST00000493854.1_3'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	644	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTATGATGAAGAGATTGGTTA	0.438																																						uc011lzh.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1930-1932)Gag>Aag		Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.							288	261	270					9																	125832650		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125832650G>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1930G>A	9.37:g.125832650G>A	ENSP00000362751:p.Glu644Lys		Somatic				RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_5'UTR	p.E644K	NM_012197	NP_036329	WXS	Illumina GAIIx	Phase_I	Q9Y3P9	RBGP1_HUMAN			14	2064	+			644			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1930G>A	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	36	5.780392	0.96929	.	.	ENSG00000011454	ENST00000373647	T	0.04862	3.54	5.61	5.61	0.85477	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.26593	0.0650	M	0.75150	2.29	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	T	0.00326	-1.1815	10	0.87932	D	0	-20.0138	19.6408	0.95757	0.0:0.0:1.0:0.0	.	644	Q9Y3P9	RBGP1_HUMAN	K	644	ENSP00000362751:E644K	ENSP00000362751:E644K	E	+	1	0	RABGAP1	124872471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.641000	0.89580	0.563000	0.77884	GAG		0.438	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		5	101	0	0	0	1	0	5	101					A	125832650	G	A	125832650	3	1	133	1	0	0	0	0	1	0	0	0	12964	943	33	2	1984	2	RABGAP1	9	125832650	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		125832650	15380781	12	2273											
RAPGEF1	2889	broad.mit.edu	37	9	134518626	134518626	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr9:134518626C>T	ENST00000372189.3	-	4	566	c.443G>A	c.(442-444)aGc>aAc	p.S148N	RAPGEF1_ENST00000372190.3_Splice_Site_p.S166N|RAPGEF1_ENST00000372195.1_Splice_Site_p.S165N|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	148					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCCACTCACCTGTGCTGAAT	0.507																																						uc022bos.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.e4+1		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.							43	42	43					9																	134518626		2018	4182	6200	SO:0001630	splice_region_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity	g.chr9:134518626C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.443+1G>A	9.37:g.134518626C>T			Somatic				RAPGEF1_uc022bot.1_Splice_Site_p.S148_splice|RAPGEF1_uc022bou.1_Splice_Site_p.S153_splice|RAPGEF1_uc022bov.1_Splice_Site_p.S153_splice	p.S166_splice	NM_198679	NP_941372	WXS	Illumina GAIIx	Phase_I	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	4	656	-		Myeloproliferative disorder(178;0.204)	148					Q5JUE4|Q8IV73	Splice_Site	SNP	ENST00000372189.3	37	c.497_splice	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114774	0.94339	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.74881	2.28	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.85130	0.993;0.989;0.997	T	0.64529	-0.6386	9	.	.	.	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	165;148;166	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	N	148;165;42;148;166;128;74;165;127;166	ENSP00000361269:S165N;ENSP00000361263:S148N;ENSP00000361264:S166N;ENSP00000410640:S127N;ENSP00000402174:S166N	.	S	-	2	0	RAPGEF1	133508447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.379000	0.79691	2.857000	0.98124	0.650000	0.86243	AGC		0.507	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	Missense_Mutation	5	9	0	0	0	1	0	5	9					T	134518626	C	T	134518626	5	4	133	1	0	0	0	0	0	0	1	0	13043	695	24	2	2874	2	RAPGEF1	9	134518626	Splice_Site	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	8685976	134518626	6694805	13	2274											
MYST4	23522	broad.mit.edu	37	10	76781017	76781017	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:76781017G>C	ENST00000287239.4	+	15	3484	c.2995G>C	c.(2995-2997)Gaa>Caa	p.E999Q	KAT6B_ENST00000372725.1_Missense_Mutation_p.E707Q|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E707Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.E816Q|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	999	Catalytic.|Interaction with BRPF1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGCAGTGTCTGAAGAAGAGCG	0.398																																						uc001jwn.1																			0											c.(2995-2997)Gaa>Caa		Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.							83	81	82					10																	76781017		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|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 factor binding|zinc ion binding	g.chr10:76781017G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2995G>C	10.37:g.76781017G>C	ENSP00000287239:p.Glu999Gln		Somatic				KAT6B_uc001jwm.1_Missense_Mutation_p.E707Q|KAT6B_uc001jwo.1_Missense_Mutation_p.E707Q|KAT6B_uc001jwp.1_Missense_Mutation_p.E816Q	p.E999Q	NM_012330	NP_036462	WXS	Illumina GAIIx	Phase_I	Q8WYB5	MYST4_HUMAN			14	3488	+			999			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2995G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974246	0.53720	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78003	-1.13;-1.13;2.0;-1.13;-1.14	6.02	6.02	0.97574	.	0.000000	0.49305	D	0.000144	D	0.86414	0.5927	L	0.54323	1.7	0.58432	D	0.99999	D;D;D	0.89917	0.998;1.0;0.993	D;D;D	0.85130	0.969;0.997;0.968	D	0.86239	0.1642	10	0.66056	D	0.02	-14.7391	18.7001	0.91617	0.0:0.0:1.0:0.0	.	816;707;999	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Q	707;707;999;707;816	ENSP00000361810:E707Q;ENSP00000361809:E707Q;ENSP00000287239:E999Q;ENSP00000361799:E707Q;ENSP00000361796:E816Q	ENSP00000287239:E999Q	E	+	1	0	KAT6B	76451023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.197000	0.89727	2.855000	0.98099	0.655000	0.94253	GAA		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		5	67	0	0	0	1	0	5	67					C	76781017	G	C	76781017	3	2	133	1	0	0	0	0	1	0	0	0	10105	1291	45	4	3045	4	MYST4	10	76781017	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		76781017	58753730	14	2275											
CYP17A1	1586	broad.mit.edu	37	10	104596873	104596873	+	Silent	SNP	G	G	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr10:104596873G>T	ENST00000369887.3	-	1	417	c.246C>A	c.(244-246)gcC>gcA	p.A82A	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	82					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)	GCACCTCCTTGGCCAGCTGGT	0.532																																						uc001kwg.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(244-246)gcC>gcA		Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	NADH(DB00157)|Progesterone(DB00396)						107	91	96					10																	104596873		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:104596873G>T	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.246C>A	10.37:g.104596873G>T			Somatic					p.A82A	NM_000102	NP_000093	WXS	Illumina GAIIx	Phase_I	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	0	418	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	82					Q5TZV7	Silent	SNP	ENST00000369887.3	37	c.246C>A	CCDS7541.1																																																																																				0.532	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		23	59	0	0	0	1	0	23	59					T	104596873	G	T	104596873	2	4	133	1	0	0	0	0	0	0	0	1	4147	1335	47	4		4	CYP17A1	10	104596873	Silent	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	27815856	104596873	30937874	15	2276											
DSCAML1	57453	broad.mit.edu	37	11	117314617	117314617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr11:117314617C>A	ENST00000321322.6	-	21	4028	c.4027G>T	c.(4027-4029)Gag>Tag	p.E1343*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.E1073*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1283	Ig-like C2-type 10.				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)		CCAGCAGGCTCGATGGTCACC	0.617																																						uc001prh.1																			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.(4027-4029)Gag>Tag		Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.							47	47	47					11																	117314617		2201	4296	6497	SO:0001587	stop_gained	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.chr11:117314617C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4027G>T	11.37:g.117314617C>A	ENSP00000315465:p.Glu1343*		Somatic					p.E1343*	NM_020693	NP_065744	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	20	4029	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1283			Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.4027G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	42	9.358985	0.99148	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.5974	0.88016	0.0:1.0:0.0:0.0	.	.	.	.	X	1073;1343;1050	.	ENSP00000315465:E1343X	E	-	1	0	DSCAML1	116819827	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.582000	0.82546	2.365000	0.80145	0.313000	0.20887	GAG		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	35	0	0	0	1	0	6	35					A	117314617	C	A	117314617	4	1	133	1	0	0	0	0	0	1	0	0	4769	893	31	4	2366	4	DSCAML1	11	117314617	Nonsense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		117314617	17691899	16	2277											
HELB	92797	broad.mit.edu	37	12	66703764	66703764	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:66703764C>A	ENST00000247815.4	+	4	1115	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	352					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTGTGTCTTCCCTTATGACC	0.413																																						uc001sti.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1054-1056)ttC>ttA		Homo sapiens helicase (DNA) B (HELB), mRNA.							236	228	231					12																	66703764		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703764C>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1056C>A	12.37:g.66703764C>A	ENSP00000247815:p.Phe352Leu		Somatic				HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	p.F352L	NM_033647	NP_387467	WXS	Illumina GAIIx	Phase_I	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	1084	+			352					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1056C>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727270	0.48833	.	.	ENSG00000127311	ENST00000247815	T	0.53857	0.6	6.17	3.8	0.43715	.	0.247838	0.42964	D	0.000640	T	0.57592	0.2064	M	0.68952	2.095	0.32625	N	0.522792	D	0.56521	0.976	P	0.52343	0.696	T	0.67814	-0.5573	9	.	.	.	-32.2118	8.0739	0.30706	0.0:0.1828:0.0:0.8172	.	352	Q8NG08	HELB_HUMAN	L	352	ENSP00000247815:F352L	.	F	+	3	2	HELB	64990031	0.999000	0.42202	0.992000	0.48379	0.038000	0.13279	0.986000	0.29590	1.132000	0.42129	0.655000	0.94253	TTC		0.413	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			21	219	0	0	0	1	0	21	219					A	66703764	C	A	66703764	3	1	133	1	0	0	0	0	1	0	0	0	7045	854	30	4	1070	4	HELB	12	66703764	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		66703764	67148131	17	2278											
PLXNC1	10154	broad.mit.edu	37	12	94580161	94580161	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr12:94580161C>T	ENST00000258526.4	+	4	1600	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	451	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGGAGAATTCGTGTTGCAAA	0.423																																						uc001tdc.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1351-1353)Cgt>Tgt		Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.							127	113	117					12																	94580161		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94580161C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1351C>T	12.37:g.94580161C>T	ENSP00000258526:p.Arg451Cys		Somatic					p.R451C	NM_005761	NP_005752	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			3	1600	+			451			Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1351C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528525	0.44969	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.04706	3.57;3.57	5.51	4.59	0.56863	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.054650	0.07232	N	0.862770	T	0.05547	0.0146	L	0.44542	1.39	0.42923	D	0.994291	P	0.50943	0.94	B	0.36335	0.222	T	0.41875	-0.9484	10	0.49607	T	0.09	.	8.9885	0.36008	0.1681:0.6695:0.1624:0.0	.	451	O60486	PLXC1_HUMAN	C	451;67	ENSP00000258526:R451C;ENSP00000447843:R67C	ENSP00000258526:R451C	R	+	1	0	PLXNC1	93104292	0.910000	0.30920	0.973000	0.42090	0.993000	0.82548	1.974000	0.40559	1.267000	0.44247	0.561000	0.74099	CGT		0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			4	40	0	0	0	1	0	4	40					T	94580161	C	T	94580161	3	4	133	1	0	0	0	0	1	0	0	0	12126	884	31	1	1365	1	PLXNC1	12	94580161	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08	27876397	94580161	39271734	18	2279											
TP53BP1	7158	broad.mit.edu	37	15	43738724	43738724	+	Silent	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr15:43738724C>T	ENST00000263801.3	-	14	3138	c.2886G>A	c.(2884-2886)gaG>gaA	p.E962E	TP53BP1_ENST00000450115.2_Silent_p.E967E|TP53BP1_ENST00000382039.3_Silent_p.E967E|TP53BP1_ENST00000382044.4_Silent_p.E967E|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	962					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATCATGGGTCTCCACCATGC	0.453								Other conserved DNA damage response genes																														uc001zrr.4																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2899-2901)gaG>gaA	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA.							114	112	113					15																	43738724		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding	g.chr15:43738724C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2886G>A	15.37:g.43738724C>T			Somatic				TP53BP1_uc010udp.2_Silent_p.E962E|TP53BP1_uc001zrq.4_Silent_p.E967E|TP53BP1_uc001zrs.3_Silent_p.E962E|TP53BP1_uc010udq.1_Silent_p.E967E	p.E967E	NM_001141980	NP_005648	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	13	3014	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	962					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.2901G>A	CCDS10096.1																																																																																				0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	86	0	0	0	1	0	7	86					T	43738724	C	T	43738724	2	4	133	1	0	0	0	0	0	0	0	1	16380	912	32	2		2	TP53BP1	15	43738724	Silent	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		43738724	58792668	19	2280											
ABAT	18	broad.mit.edu	37	16	8875180	8875180	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr16:8875180G>A	ENST00000396600.2	+	16	2334	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	ABAT_ENST00000268251.8_Missense_Mutation_p.G466S|ABAT_ENST00000567812.1_Missense_Mutation_p.G481S|ABAT_ENST00000569156.1_Silent_p.V485V|ABAT_ENST00000425191.2_Missense_Mutation_p.G466S|TMEM186_ENST00000564869.1_5'UTR	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	466					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTGTTGGGTGGCTGTGGTGA	0.527																																						uc002czc.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1396-1398)Ggc>Agc		Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						208	163	178					16																	8875180		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8875180G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1396G>A	16.37:g.8875180G>A	ENSP00000379845:p.Gly466Ser		Somatic				ABAT_uc002czd.4_Missense_Mutation_p.G466S|ABAT_uc010buh.3_Missense_Mutation_p.G408S|ABAT_uc010bui.3_Missense_Mutation_p.G466S|ABAT_uc021tcs.1_5'Flank	p.G466S	NM_020686	NP_065737	WXS	Illumina GAIIx	Phase_I	P80404	GABT_HUMAN			15	1562	+			466					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.1396G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309852	0.81247	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.75821	-0.97;-0.97;-0.97	5.12	5.12	0.69794	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.119578	0.56097	D	0.000031	T	0.74061	0.3667	L	0.49778	1.585	0.80722	D	1	P	0.42871	0.792	B	0.43838	0.433	T	0.76716	-0.2857	10	0.52906	T	0.07	-2.5373	17.5535	0.87884	0.0:0.0:1.0:0.0	.	466	P80404	GABT_HUMAN	S	466	ENSP00000268251:G466S;ENSP00000379845:G466S;ENSP00000411916:G466S	ENSP00000268251:G466S	G	+	1	0	ABAT	8782681	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.707000	0.84623	2.375000	0.81037	0.549000	0.68633	GGC		0.527	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		6	84	0	0	0	1	0	6	84					A	8875180	G	A	8875180	3	1	133	1	0	0	0	0	1	0	0	0	27	1348	47	2	1454	2	ABAT	16	8875180	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		8875180	81479573	20	2281											
ABR	29	broad.mit.edu	37	17	914042	914042	+	Silent	SNP	G	G	C	rs200483424		TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:914042G>C	ENST00000302538.5	-	20	2309	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L	ABR_ENST00000536794.2_Silent_p.L503L|ABR_ENST00000574437.1_Silent_p.L675L|ABR_ENST00000544583.2_Silent_p.L675L|ABR_ENST00000291107.2_Silent_p.L684L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.L172L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	721	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)		AGTACAGCTTGAGCGTCCCGG	0.627																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.3																			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.(2161-2163)ctC>ctG		Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.							121	103	109					17																	914042		2203	4300	6503	SO:0001819	synonymous_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|Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr17:914042G>C	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2163C>G	17.37:g.914042G>C			Somatic				ABR_uc002fse.3_Silent_p.L675L|ABR_uc010vqf.2_Silent_p.L172L|ABR_uc010vqg.2_Silent_p.L503L|ABR_uc002fsg.3_Silent_p.L684L|ABR_uc002fsh.1_Silent_p.L329L|ABR_uc002fsf.3_Silent_p.L258L	p.L721L	NM_021962	NP_001153218	WXS	Illumina GAIIx	Phase_I	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2273	-			721			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.2163C>G	CCDS10999.1																																																																																				0.627	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			9	87	0	0	0	1	0	9	87					C	914042	G	C	914042	2	2	133	1	0	0	0	0	0	0	0	1	99	1277	45	4		4	ABR	17	914042	Silent	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08		914042	80281168	21	2282											
SLC35B1	10237	broad.mit.edu	37	17	47783622	47783622	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr17:47783622G>C	ENST00000240333.6	-	3	404	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L132V|RP11-613C6.2_ENST00000512720.1_RNA			P78383	S35B1_HUMAN	solute carrier family 35, member B1	95					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						ATGGCACCCAGATAGGAGATA	0.473																																						uc002iph.1																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(283-285)Ctg>Gtg		Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.							64	59	61					17																	47783622		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47783622G>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.283C>G	17.37:g.47783622G>C	ENSP00000240333:p.Leu95Val		Somatic				SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.L95V	p.L95V	NM_005827	NP_005818	WXS	Illumina GAIIx	Phase_I	P78383	S35B1_HUMAN			2	370	-			95					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.283C>G	CCDS11552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.801528|2.801528	0.50315|0.50315	.|.	.|.	ENSG00000121073|ENSG00000121073	ENST00000376622|ENST00000240333;ENST00000415270;ENST00000503334;ENST00000508520;ENST00000435059;ENST00000514907;ENST00000515850;ENST00000511763;ENST00000511657	.|T;T;T;T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	4.77|4.77	2.73|2.73	0.32206|0.32206	.|.	.|0.148789	.|0.46442	.|N	.|0.000281	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.21448|0.21448	0.665|0.665	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;B	.|0.46064	.|0.872;0.232;0.232	.|P;B;B	.|0.54706	.|0.759;0.264;0.104	T|T	0.02081|0.02081	-1.1217|-1.1217	6|10	0.66056|0.20519	D|T	0.02|0.43	-5.806|-5.806	9.6197|9.6197	0.39714|0.39714	0.0796:0.1473:0.7731:0.0|0.0796:0.1473:0.7731:0.0	.|.	.|95;28;95	.|B4DJG9;D3DTX1;P78383	.|.;.;S35B1_HUMAN	M|V	115|95;132;28;98;95;64;129;52;28	.|ENSP00000240333:L95V;ENSP00000409548:L132V;ENSP00000423323:L28V;ENSP00000424367:L98V;ENSP00000426961:L64V;ENSP00000427689:L129V;ENSP00000422104:L52V;ENSP00000426402:L28V	ENSP00000365809:I115M|ENSP00000240333:L95V	I|L	-|-	3|1	3|2	SLC35B1|SLC35B1	45138621|45138621	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.977000|0.977000	0.68977|0.68977	3.712000|3.712000	0.54875|0.54875	0.577000|0.577000	0.29470|0.29470	0.655000|0.655000	0.94253|0.94253	ATC|CTG		0.473	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		6	23	0	0	0	1	0	6	23					C	47783622	G	C	47783622	3	2	133	1	0	0	0	0	1	0	0	0	14575	933	33	4	713	4	SLC35B1	17	47783622	Missense_Mutation	SNP	G	TCGA-DJ-A4V4-01A-11D-A257-08	46869580	47783622	33411588	22	2283											
ASPDH	554235	broad.mit.edu	37	19	51015780	51015780	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4V4-01A-11D-A257-08	TCGA-DJ-A4V4-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dc7bb44-4efa-46a6-a330-4a4ffd67eff2	498facec-bf42-4070-8777-3a389b151ec8	g.chr19:51015780C>T	ENST00000389208.4	-	5	551	c.490G>A	c.(490-492)Gct>Act	p.A164T	JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.A59T	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	164					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						TGGGCTGCAGCCAGGGGTCCC	0.657																																						uc010enz.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(490-492)Gct>Act		Homo sapiens aspartate dehydrogenase domain containing (ASPDH), transcript variant 1, mRNA.							16	22	20					19																	51015780		2202	4299	6501	SO:0001583	missense	554235				NAD biosynthetic process|NADP catabolic process		NADP binding|aspartate dehydrogenase activity	g.chr19:51015780C>T		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.490G>A	19.37:g.51015780C>T	ENSP00000373860:p.Ala164Thr		Somatic				JOSD2_uc002psn.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.4_Missense_Mutation_p.A59T	p.A164T	NM_001114598	NP_001108070	WXS	Illumina GAIIx	Phase_I	A6ND91	ASPD_HUMAN			4	552	-			164					Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	c.490G>A	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570283	0.28003	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.44482	0.92;0.93	3.9	3.9	0.45041	.	0.183389	0.36134	N	0.002765	T	0.29945	0.0749	L	0.40543	1.245	0.30934	N	0.726593	P;B	0.37466	0.596;0.106	B;B	0.35353	0.201;0.069	T	0.20107	-1.0285	10	0.13108	T	0.6	-8.538	11.763	0.51914	0.0:1.0:0.0:0.0	.	164;59	A6ND91;A6ND91-2	ASPD_HUMAN;.	T	59;164	ENSP00000366114:A59T;ENSP00000373860:A164T	ENSP00000366114:A59T	A	-	1	0	ASPDH	55707592	0.467000	0.25831	0.993000	0.49108	0.973000	0.67179	1.444000	0.35068	1.908000	0.55244	0.561000	0.74099	GCT		0.657	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		3	12	0	0	0	1	0	3	12					T	51015780	C	T	51015780	3	4	133	1	0	0	0	0	1	0	0	0	1051	739	26	2	373	2	ASPDH	19	51015780	Missense_Mutation	SNP	C	TCGA-DJ-A4V4-01A-11D-A257-08		51015780	8113203	23	2284											
AJAP1	55966	broad.mit.edu	37	1	4832438	4832438	+	Missense_Mutation	SNP	G	G	A	rs566504703		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr1:4832438G>A	ENST00000378191.4	+	4	1397	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	AJAP1_ENST00000378190.3_Missense_Mutation_p.R339Q	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	339	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCTCGGCCCGGGTGCCCAGC	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		14846	0		0	False		,,,				2504	0					uc001alm.1																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1015-1017)cGg>cAg		Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.							77	64	69					1																	4832438		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832438G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1016G>A	1.37:g.4832438G>A	ENSP00000367433:p.Arg339Gln		Somatic				AJAP1_uc001aln.3_Missense_Mutation_p.R339Q	p.R339Q	NM_001042478	NP_061324	WXS	Illumina GAIIx	Phase_I	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	3	1397	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	339			Targeting signals.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1016G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230825	0.79688	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.48836	0.8;0.8	5.12	5.12	0.69794	.	0.119960	0.56097	D	0.000025	T	0.51227	0.1662	N	0.12182	0.205	0.48830	D	0.999711	D	0.89917	1.0	D	0.69307	0.963	T	0.59516	-0.7440	10	0.56958	D	0.05	-28.4723	17.1126	0.86680	0.0:0.0:1.0:0.0	.	339	Q9UKB5	AJAP1_HUMAN	Q	339	ENSP00000367432:R339Q;ENSP00000367433:R339Q	ENSP00000367432:R339Q	R	+	2	0	AJAP1	4732298	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.354000	0.79424	2.380000	0.81148	0.561000	0.74099	CGG		0.617	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		4	43	0	0	0	1	0	4	43					A	4832438	G	A	4832438	3	1	134	1	0	0	0	0	1	0	0	0	438	1116	39	1	1030	1	AJAP1	1	4832438	Missense_Mutation	SNP	G	TCGA-DJ-A4V5-01A-11D-A257-08		4832438	244418183	1	2285											
KIAA1530	57654	broad.mit.edu	37	4	1374010	1374010	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr4:1374010C>T	ENST00000389851.4	+	11	2191	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	UVSSA_ENST00000511216.1_Missense_Mutation_p.R582W|UVSSA_ENST00000507531.1_Missense_Mutation_p.R582W|UVSSA_ENST00000512728.1_Missense_Mutation_p.R133W|UVSSA_ENST00000511563.1_Missense_Mutation_p.R133W	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	582					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCGCCAAGACCGGCTGAAGGT	0.716																																						uc003gde.4																			0											c.(1744-1746)Cgg>Tgg		Homo sapiens KIAA1530 (KIAA1530), mRNA.							27	29	28					4																	1374010		2199	4298	6497	SO:0001583	missense	57654							g.chr4:1374010C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1744C>T	4.37:g.1374010C>T	ENSP00000374501:p.Arg582Trp		Somatic				UVSSA_uc010ibv.3_Missense_Mutation_p.R133W	p.R582W	NM_020894	NP_065945	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			10	2191	+			582					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.1744C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996758	0.54147	.	.	ENSG00000163945	ENST00000296312;ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.50813	1.23;1.23;1.23;0.73;0.73	4.87	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	M	0.84219	2.685	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.73892	-0.3839	10	0.87932	D	0	.	12.0139	0.53303	0.3757:0.6243:0.0:0.0	.	582	Q2YD98	K1530_HUMAN	W	133;582;582;582;133;133	ENSP00000425130:R582W;ENSP00000374501:R582W;ENSP00000421741:R582W;ENSP00000423340:R133W;ENSP00000427701:R133W	ENSP00000296312:R133W	R	+	1	2	KIAA1530	1364010	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	1.178000	0.31981	2.238000	0.73509	0.561000	0.74099	CGG		0.716	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		3	23	0	0	0	1	0	3	23					T	1374010	C	T	1374010	3	4	134	1	0	0	0	0	1	0	0	0	8241	643	23	1	1782	1	KIAA1530	4	1374010	Missense_Mutation	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		1374010	189780266	2	2286											
WDR11	55717	broad.mit.edu	37	10	122612090	122612090	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr10:122612090T>G	ENST00000263461.6	+	2	387	c.141T>G	c.(139-141)gaT>gaG	p.D47E	WDR11-AS1_ENST00000598981.1_RNA	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	452					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|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 import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TAGTGATTGATTCCATTACTG	0.368																																						uc021pzt.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(139-141)gaT>gaG		Homo sapiens WD repeat domain 11 (WDR11), mRNA.							172	159	163					10																	122612090		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122612090T>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.141T>G	10.37:g.122612090T>G	ENSP00000263461:p.Asp47Glu		Somatic				LOC283089_uc001lfb.1_5'Flank|WDR11_uc010qte.2_Missense_Mutation_p.D47E|WDR11_uc001lfd.1_5'UTR	p.D47E	NM_018117	NP_060587	WXS	Illumina GAIIx	Phase_I	Q9BZH6	WDR11_HUMAN			1	387	+			47					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.141T>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575395	0.86645	.	.	ENSG00000120008	ENST00000263461	T	0.37752	1.18	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.64170	1.965	0.58432	D	0.999996	D	0.58970	0.984	D	0.70016	0.967	T	0.56044	-0.8044	10	0.52906	T	0.07	-29.8477	11.97	0.53058	0.0:0.0694:0.0:0.9306	.	47	Q9BZH6	WDR11_HUMAN	E	47	ENSP00000263461:D47E	ENSP00000263461:D47E	D	+	3	2	WDR11	122602080	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.320000	0.65841	2.191000	0.70037	0.528000	0.53228	GAT		0.368	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			15	22	0	0	0	1	0	15	22					G	122612090	T	G	122612090	3	3	134	1	0	0	0	0	1	0	0	0	17270	1490	52	5	147	5	WDR11	10	122612090	Missense_Mutation	SNP	T	TCGA-DJ-A4V5-01A-11D-A257-08		122612090	12922657	3	2287											
POU2F3	25833	broad.mit.edu	37	11	120169033	120169033	+	Silent	SNP	C	C	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr11:120169033C>T	ENST00000543440.2	+	4	342	c.192C>T	c.(190-192)caC>caT	p.H64H	POU2F3_ENST00000260264.4_Silent_p.H66H	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	64					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGCCATGCCACCTGAGTCAAG	0.537																																						uc010rzk.2																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(7-9)Cct>Tct		Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 1, mRNA.							162	157	159					11																	120169033		2203	4300	6503	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120169033C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.192C>T	11.37:g.120169033C>T			Somatic				POU2F3_uc021qrk.1_Silent_p.H66H|POU2F3_uc001pxc.3_Silent_p.H64H|POU2F3_uc010rzl.2_5'UTR	p.P3S			WXS	Illumina GAIIx	Phase_I	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	3	342	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	0					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.7C>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801285	0.31869	.	.	ENSG00000137709	ENST00000533620	D	0.84070	-1.8	4.3	3.38	0.38709	.	.	.	.	.	T	0.77280	0.4107	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.74526	-0.3636	8	0.87932	D	0	.	11.2422	0.48977	0.0:0.9104:0.0:0.0896	.	3	E9PIN6	.	S	3	ENSP00000435738:P3S	ENSP00000435738:P3S	P	+	1	0	POU2F3	119674243	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.653000	0.61462	1.022000	0.39626	-0.251000	0.11542	CCT		0.537	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			61	151	0	0	0	1	0	61	151					T	120169033	C	T	120169033	2	4	134	1	0	0	0	0	0	0	0	1	12273	506	18	2		2	POU2F3	11	120169033	Silent	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		120169033	14837483	4	2288											
DPP8	54878	broad.mit.edu	37	15	65743407	65743407	+	Missense_Mutation	SNP	T	T	G	rs201715249		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr15:65743407T>G	ENST00000341861.5	-	19	4084	c.2504A>C	c.(2503-2505)aAt>aCt	p.N835T	DPP8_ENST00000358939.4_Missense_Mutation_p.N719T|DPP8_ENST00000559233.1_Missense_Mutation_p.N835T|DPP8_ENST00000321147.6_Missense_Mutation_p.N784T|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000300141.6_Missense_Mutation_p.N819T|DPP8_ENST00000321118.7_Missense_Mutation_p.N786T|DPP8_ENST00000339244.5_Missense_Mutation_p.N662T	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	835					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAATGGACATTCTCATCCAG	0.358																																						uc002aov.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2503-2505)aAt>aCt		Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.							135	145	141					15																	65743407		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65743407T>G	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2504A>C	15.37:g.65743407T>G	ENSP00000339208:p.Asn835Thr		Somatic				DPP8_uc002aow.3_Missense_Mutation_p.N835T|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.N819T|DPP8_uc002aox.3_Missense_Mutation_p.N819T|DPP8_uc002aoy.3_Missense_Mutation_p.N784T|DPP8_uc002aoz.3_Missense_Mutation_p.N719T|DPP8_uc010bhj.3_Missense_Mutation_p.N835T|DPP8_uc010bhi.3_Missense_Mutation_p.N138T	p.N835T	NM_130434	NP_569118	WXS	Illumina GAIIx	Phase_I	Q6V1X1	DPP8_HUMAN			18	4082	-			835					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.2504A>C	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722331	0.68959	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.31	5.31	0.75309	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.89163	3.01	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.987;1.0;1.0	T	0.73751	-0.3884	10	0.87932	D	0	-23.307	14.4796	0.67573	0.0:0.0:0.0:1.0	.	786;819;719;784;835	Q6V1X1-5;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	T	835;719;819;784;786;662	ENSP00000339208:N835T;ENSP00000351817:N719T;ENSP00000300141:N819T;ENSP00000318111:N784T;ENSP00000316373:N786T;ENSP00000341230:N662T	ENSP00000300141:N819T	N	-	2	0	DPP8	63530460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.034000	0.88864	2.009000	0.58944	0.528000	0.53228	AAT		0.358	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		37	78	0	0	0	1	0	37	78					G	65743407	T	G	65743407	3	3	134	1	0	0	0	0	1	0	0	0	4732	1493	52	5	200	5	DPP8	15	65743407	Missense_Mutation	SNP	T	TCGA-DJ-A4V5-01A-11D-A257-08		65743407	36787985	5	2289											
GNAO1	2775	broad.mit.edu	37	16	56309933	56309933	+	Silent	SNP	C	C	T			TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr16:56309933C>T	ENST00000262493.6	+	3	1098	c.252C>T	c.(250-252)atC>atT	p.I84I	GNAO1_ENST00000262494.7_Silent_p.I84I	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	84					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGGCAGCCATCGTCCGGGCCA	0.502																																						uc002eit.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(250-252)atC>atT		Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.							107	88	95					16																	56309933		2198	4300	6498	SO:0001819	synonymous_variant	2775				G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56309933C>T		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.252C>T	16.37:g.56309933C>T			Somatic				GNAO1_uc002eiu.4_Silent_p.I84I	p.I84I	NM_138736	NP_620073	WXS	Illumina GAIIx	Phase_I	P09471	GNAO_HUMAN			2	1149	+		all_neural(199;0.159)	84					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.252C>T	CCDS10756.1																																																																																				0.502	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		12	44	0	0	0	1	0	12	44					T	56309933	C	T	56309933	2	4	134	1	0	0	0	0	0	0	0	1	6508	874	31	1		1	GNAO1	16	56309933	Silent	SNP	C	TCGA-DJ-A4V5-01A-11D-A257-08		56309933	34044820	6	2290											
TBXA2R	6915	broad.mit.edu	37	19	3600480	3600480	+	Silent	SNP	G	G	A	rs201810680		TCGA-DJ-A4V5-01A-11D-A257-08	TCGA-DJ-A4V5-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	303e4531-b4c2-4f91-84ba-6246bd119c87	a9b59b90-c24f-48a9-b818-31a9eb1e2d87	g.chr19:3600480G>A	ENST00000375190.4	-	2	546	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TBXA2R_ENST00000589966.1_Silent_p.G51G|TBXA2R_ENST00000411851.3_Silent_p.G51G|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	51					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTGCCGCGCGCCCGCCAGCA	0.706																																						uc021umv.1																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(151-153)ggC>ggT		Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant b, mRNA.	Ridogrel(DB01207)						18	29	25					19																	3600480		2119	4193	6312	SO:0001819	synonymous_variant	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600480G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.153C>T	19.37:g.3600480G>A			Somatic				TBXA2R_uc002lyg.2_Silent_p.G51G	p.G51G	NM_201636	NP_963998	WXS	Illumina GAIIx	Phase_I	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	1	540	-		Hepatocellular(1079;0.137)	51					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.153C>T	CCDS42467.1																																																																																				0.706	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			7	19	0	0	0	1	0	7	19					A	3600480	G	A	3600480	2	1	134	1	0	0	0	0	0	0	0	1	15660	1074	38	1		1	TBXA2R	19	3600480	Silent	SNP	G	TCGA-DJ-A4V5-01A-11D-A257-08		3600480	55528503	7	2291											
PADI2	11240	broad.mit.edu	37	1	17411155	17411155	+	Frame_Shift_Del	DEL	G	G	-	rs149752241		TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr1:17411155delG	ENST00000375486.4	-	8	940	c.877delC	c.(877-879)cggfs	p.R293fs	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000466151.1_5'Flank|PADI2_ENST00000375481.1_Frame_Shift_Del_p.R293fs	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	293					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)	GGAGCAATCCGGAATATCACG	0.577																																						uc001baf.3																			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.(877-879)cggfs		Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	L-Citrulline(DB00155)						94	62	73					1																	17411155		2199	4294	6493	SO:0001589	frameshift_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17411155delG	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.877delC	1.37:g.17411155delG	ENSP00000364635:p.Arg293fs		Somatic				PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Frame_Shift_Del_p.R293fs	p.R293fs	NM_007365	NP_031391	WXS	Illumina GAIIx	Phase_I	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)	7	959	-		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)	293					Q96DA7|Q9UPN2	Frame_Shift_Del	DEL	ENST00000375486.4	37	c.877delC	CCDS177.1																																																																																				0.577	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			2	4						2	4	---	---	---	---	-	17411155	G	-	17411155	7	5	135	1	0	1	0	1	0	0	0	0	11378	1115	39	0	1156	0	PADI2	1	17411155	Frame_Shift_Del	DEL	G	TCGA-DO-A1JZ-01A-11D-A13W-08		17411155	231839466	1	2292											
COMMD1	150684	broad.mit.edu	37	2	62132935	62132935	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:62132935C>A	ENST00000311832.5	+	1	154	c.122C>A	c.(121-123)cCa>cAa	p.P41Q	COMMD1_ENST00000538736.1_Missense_Mutation_p.P41Q|COMMD1_ENST00000472729.1_Intron	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	41					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			CAGCTATATCCAGAGGTGCCA	0.597																																						uc002sbp.3																			0				large_intestine(1)|liver(2)|lung(5)|ovary(1)	9						c.(121-123)cCa>cAa		Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.							45	46	46					2																	62132935		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62132935C>A	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"copper metabolism gene MURR1"	607238	"chromosome 2 open reading frame 5 (MURR1)"	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.122C>A	2.37:g.62132935C>A	ENSP00000308236:p.Pro41Gln		Somatic					p.P41Q	NM_152516	NP_689729	WXS	Illumina GAIIx	Phase_I	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		0	133	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		41					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.122C>A	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893634	0.52121	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.09630	2.96;2.96	5.6	4.72	0.59763	.	0.052645	0.85682	D	0.000000	T	0.28732	0.0712	M	0.74258	2.255	0.45662	D	0.998588	D	0.69078	0.997	D	0.64144	0.922	T	0.02226	-1.1192	10	0.87932	D	0	.	10.4553	0.44546	0.0:0.9107:0.0:0.0893	.	41	Q8N668	COMD1_HUMAN	Q	41	ENSP00000308236:P41Q;ENSP00000438961:P41Q	ENSP00000308236:P41Q	P	+	2	0	COMMD1	61986439	0.992000	0.36948	0.759000	0.31340	0.307000	0.27823	4.186000	0.58337	1.377000	0.46286	0.655000	0.94253	CCA		0.597	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		3	49	0	0	0	1	0	3	49					A	62132935	C	A	62132935	3	1	135	1	0	0	0	0	1	0	0	0	3714	594	21	4	124	4	COMMD1	2	62132935	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		62132935	181066438	2	2293											
POLR1A	25885	broad.mit.edu	37	2	86297188	86297188	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr2:86297188C>T	ENST00000263857.6	-	13	2197	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E607K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	607					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)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACGTAGGCCTCGGCCCGGCCC	0.572																																						uc002sqs.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1819-1821)Gag>Aag		Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.							40	42	41					2																	86297188		2028	4167	6195	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86297188C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1819G>A	2.37:g.86297188C>T	ENSP00000263857:p.Glu607Lys		Somatic					p.E607K	NM_015425	NP_056240	WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			12	2198	-			607					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1819G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709521	0.89018	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.95238	-3.65;-3.65	5.3	5.3	0.74995	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.87932	D	0	-30.4857	18.5668	0.91119	0.0:1.0:0.0:0.0	.	607	O95602	RPA1_HUMAN	K	607	ENSP00000263857:E607K;ENSP00000386300:E607K	ENSP00000263857:E607K	E	-	1	0	POLR1A	86150699	1.000000	0.71417	0.945000	0.38365	0.949000	0.60115	7.466000	0.80914	2.479000	0.83701	0.655000	0.94253	GAG		0.572	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		19	15	0	0	0	1	0	19	15					T	86297188	C	T	86297188	3	4	135	1	0	0	0	0	1	0	0	0	12209	893	31	1	3431	1	POLR1A	2	86297188	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08	24164253	86297188	156902185	3	2294											
NEIL3	55247	broad.mit.edu	37	4	178283471	178283471	+	Missense_Mutation	SNP	A	A	G			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr4:178283471A>G	ENST00000264596.3	+	10	1782	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	555					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATTCTGCAACCATGGCAAG	0.388								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1663-1665)aAc>aGc	Base excision repair (BER), DNA glycosylases	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.							92	93	93					4																	178283471		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178283471A>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1664A>G	4.37:g.178283471A>G	ENSP00000264596:p.Asn555Ser		Somatic					p.N555S	NM_018248	NP_060718	WXS	Illumina GAIIx	Phase_I	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	9	1781	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	555					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1664A>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449111	0.26074	.	.	ENSG00000109674	ENST00000264596	T	0.23348	1.91	4.63	0.95	0.19572	Zinc finger, GRF-type (1);	0.471433	0.22895	N	0.054335	T	0.14399	0.0348	N	0.17082	0.46	0.25080	N	0.990939	B	0.20368	0.044	B	0.23150	0.044	T	0.18903	-1.0322	10	0.52906	T	0.07	-2.0469	8.175	0.31276	0.768:0.0:0.232:0.0	.	555	Q8TAT5	NEIL3_HUMAN	S	555	ENSP00000264596:N555S	ENSP00000264596:N555S	N	+	2	0	NEIL3	178520465	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	1.495000	0.35627	0.095000	0.17434	-0.415000	0.06103	AAC		0.388	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		15	73	0	0	0	1	0	15	73					G	178283471	A	G	178283471	3	3	135	1	0	0	0	0	1	0	0	0	10320	43	2	3	1702	3	NEIL3	4	178283471	Missense_Mutation	SNP	A	TCGA-DO-A1JZ-01A-11D-A13W-08		178283471	12870805	4	2295											
LRDD	79751	broad.mit.edu	37	11	799816	799816	+	5'Flank	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr11:799816G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Splice_Site_p.R825W|PIDD_ENST00000411829.2_Splice_Site_p.R808W	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCCTCACCGGAACTCGTGC	0.687																																					Colon(93;848 1468 3270 23355 49636)	uc001lro.2																			0											c.e15+1		Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.							12	15	14					11																	799816		2170	4272	6442	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:799816G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799816G>A	Exception_encountered		Somatic				SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Splice_Site|PIDD_uc001lrl.1_Splice_Site_p.R668_splice|PIDD_uc001lrm.1_Splice_Site_p.R512_splice|PIDD_uc001lrn.2_Splice_Site_p.R668_splice|PIDD_uc001lrk.2_Splice_Site_p.R808_splice|PIDD_uc001lrp.2_3'UTR	p.R825_splice	NM_145886	NP_665893	WXS	Illumina GAIIx	Phase_I	Q9HB75	PIDD_HUMAN			15	2621	-			825			Death.		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Splice_Site	SNP	ENST00000531214.1	37	c.2474_splice	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236950	0.58886	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	D;D	0.86164	-2.08;-2.08	4.1	0.546	0.17196	Death (3);DEATH-like (2);	0.064498	0.64402	D	0.000014	D	0.90177	0.6930	L	0.55990	1.75	0.46954	D	0.999266	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89009	0.3427	10	0.66056	D	0.02	.	11.9657	0.53033	0.0:0.0:0.2603:0.7397	.	825;668;808	Q9HB75;Q9HB75-3;Q9HB75-2	PIDD_HUMAN;.;.	W	808;825	ENSP00000416801:R808W;ENSP00000337797:R825W	ENSP00000337797:R825W	R	-	1	2	PIDD	789816	1.000000	0.71417	0.993000	0.49108	0.415000	0.31203	1.535000	0.36061	0.306000	0.22856	0.462000	0.41574	CGG		0.687	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			2	0	0	0	0	1	0	2	0					A	799816	G	A	799816	1	1	135	0	1	0	0	0	0	0	0	0	8936	1130	39	1		1	LRDD	11	799816	5'Flank	SNP	G	TCGA-DO-A1JZ-01A-11D-A13W-08		799816	134206700	5	2296											
TP53BP1	7158	broad.mit.edu	37	15	43738684	43738684	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr15:43738684C>A	ENST00000263801.3	-	14	3178	c.2926G>T	c.(2926-2928)Ggg>Tgg	p.G976W	TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981W|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	976					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473								Other conserved DNA damage response genes																														uc001zrr.4																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2941-2943)Ggg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA.							101	101	101					15																	43738684		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding	g.chr15:43738684C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2926G>T	15.37:g.43738684C>A	ENSP00000263801:p.Gly976Trp		Somatic				TP53BP1_uc010udp.2_Missense_Mutation_p.G976W|TP53BP1_uc001zrq.4_Missense_Mutation_p.G981W|TP53BP1_uc001zrs.3_Missense_Mutation_p.G976W|TP53BP1_uc010udq.1_Missense_Mutation_p.G981W	p.G981W	NM_001141980	NP_005648	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	13	3054	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	976					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2941G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691599	0.68271	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.10005	3.71;3.71;3.71;3.71;2.92	5.47	4.54	0.55810	.	0.636189	0.16408	N	0.215760	T	0.27384	0.0672	M	0.65975	2.015	0.24486	N	0.994329	D;D;D;D	0.69078	0.991;0.994;0.997;0.997	P;P;D;D	0.65140	0.88;0.858;0.932;0.932	T	0.02610	-1.1134	10	0.72032	D	0.01	-2.455	10.7683	0.46308	0.1332:0.7931:0.0:0.0737	.	981;976;981;981	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	976;981;981;981;941	ENSP00000263801:G976W;ENSP00000371475:G981W;ENSP00000371470:G981W;ENSP00000393497:G981W;ENSP00000388028:G941W	ENSP00000263801:G976W	G	-	1	0	TP53BP1	41525976	0.483000	0.25956	1.000000	0.80357	0.990000	0.78478	0.860000	0.27871	2.729000	0.93468	0.655000	0.94253	GGG		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			84	87	0	0	0	1	0	84	87					A	43738684	C	A	43738684	3	1	135	1	0	0	0	0	1	0	0	0	16380	594	21	4	3052	4	TP53BP1	15	43738684	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		43738684	58792708	6	2297											
KIAA1632	57724	broad.mit.edu	37	18	43487997	43487997	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	64f1b3b9-24c9-4715-b6ce-834b3443d46f	g.chr18:43487997C>T	ENST00000282041.5	-	24	4289	c.4255G>A	c.(4255-4257)Gga>Aga	p.G1419R	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1419					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						TAGGTATCTCCTTTTTGAAAA	0.313																																						uc002lbm.3																			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.(4255-4257)Gga>Aga		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							74	77	76					18																	43487997		1813	4068	5881	SO:0001583	missense	57724				autophagy			g.chr18:43487997C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4255G>A	18.37:g.43487997C>T	ENSP00000282041:p.Gly1419Arg		Somatic				EPG5_uc002lbo.1_Missense_Mutation_p.G1419R|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Missense_Mutation_p.G294R	p.G1419R	NM_020964	NP_066015	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			23	4355	-			1419					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4255G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379485	0.82682	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09723	2.95	5.91	5.91	0.95273	.	0.122547	0.56097	D	0.000028	T	0.30510	0.0767	L	0.53249	1.67	0.49130	D	0.99975	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.00072	-1.2128	10	0.51188	T	0.08	-18.9457	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1419;1419	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	1419;294	ENSP00000282041:G1419R	ENSP00000282041:G1419R	G	-	1	0	EPG5	41741995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.087000	0.57671	2.802000	0.96397	0.655000	0.94253	GGA		0.313	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	89	0	0	0	1	0	9	89					T	43487997	C	T	43487997	3	4	135	1	0	0	0	0	1	0	0	0	8249	690	24	2	3568	2	KIAA1632	18	43487997	Missense_Mutation	SNP	C	TCGA-DO-A1JZ-01A-11D-A13W-08		43487997	34589251	7	2298											
CDK5RAP1	51654	broad.mit.edu	37	20	31981850	31981850	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A1JZ-01A-11D-A13W-08	TCGA-DO-A1JZ-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c622602-14bf-4377-bb3d-c6197a55a8cc	6f4ff365-ee63-40d0-8f71-ed062f755d22	g.chr20:31981850G>A	ENST00000357886.4	-	4	584	c.431C>T	c.(430-432)aCa>aTa	p.T144I	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.T144I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.T54I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.T144I			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	144	CDK5 activation inhibition.|MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GATAGAGCATGTGACAAGGAG	0.403																																						uc010gek.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(430-432)aCa>aTa		Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.							105	97	100					20																	31981850		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31981850G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.431C>T	20.37:g.31981850G>A	ENSP00000350558:p.Thr144Ile		Somatic				CDK5RAP1_uc002wyy.3_Missense_Mutation_p.T54I|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wza.3_Missense_Mutation_p.T144I|CDK5RAP1_uc010gel.3_Missense_Mutation_p.T54I|CDK5RAP1_uc010gem.3_Missense_Mutation_p.T144I|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.T144I|CDK5RAP1_uc010gen.3_Missense_Mutation_p.T144I	p.T144I	NM_016408	NP_057492	WXS	Illumina GAIIx	Phase_I	Q96SZ6	CK5P1_HUMAN			3	555	-			144			CDK5 activation inhibition.|MTTase N-terminal.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	18.02	3.529834	0.64860	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	4.48	4.48	0.54585	Methylthiotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	H	0.99770	4.765	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0;1.0;1.0	D	0.94720	0.7900	9	0.87932	D	0	-11.5027	15.0177	0.71600	0.0:0.0:1.0:0.0	.	144;144;144;144;144;144;54	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	I	144;144;144;54;34;144	.	ENSP00000341840:T144I	T	-	2	0	CDK5RAP1	31445511	1.000000	0.71417	0.977000	0.42913	0.483000	0.33249	8.770000	0.91746	2.481000	0.83766	0.313000	0.20887	ACA		0.403	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		5	87	0	0	0	1	0	5	87					A	31981850	G	A	31981850	3	1	135	1	0	0	0	0	1	0	0	0	3145	1377	48	2	1376	2	CDK5RAP1	20	31981850	Missense_Mutation	SNP	G	TCGA-DO-A1JZ-01A-11D-A13W-08		31981850	31043670	8	2299											
OR2T33	391195	broad.mit.edu	37	1	248437065	248437065	+	Missense_Mutation	SNP	G	G	T			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr1:248437065G>T	ENST00000318021.2	-	1	73	c.52C>A	c.(52-54)Cac>Aac	p.H18N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTGGTGTGGTTAAAGAGT	0.448																																						uc010pzi.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(52-54)Cac>Aac		Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.							52	54	53					1																	248437065		2197	4292	6489	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437065G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.52C>A	1.37:g.248437065G>T	ENSP00000324687:p.His18Asn		Somatic					p.H18N	NM_001004695	NP_001004695	WXS	Illumina GAIIx	Phase_I	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	52	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		18					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.52C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	9.248	1.040043	0.19669	.	.	ENSG00000177212	ENST00000318021	T	0.00642	6.02	2.7	-0.969	0.10310	.	0.756325	0.10798	U	0.632994	T	0.00608	0.0020	N	0.24115	0.695	0.09310	N	1	P	0.48998	0.918	P	0.47827	0.558	T	0.47182	-0.9137	10	0.34782	T	0.22	.	0.9343	0.01341	0.3111:0.1557:0.375:0.1582	.	18	Q8NG76	O2T33_HUMAN	N	18	ENSP00000324687:H18N	ENSP00000324687:H18N	H	-	1	0	OR2T33	246503688	0.000000	0.05858	0.065000	0.19835	0.024000	0.10985	-0.234000	0.09028	-0.380000	0.07894	-0.450000	0.05554	CAC		0.448	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		14	100	0	0	0	1	0	14	100					T	248437065	G	T	248437065	3	4	136	1	0	0	0	0	1	0	0	0	11024	1348	47	4	913	4	OR2T33	1	248437065	Missense_Mutation	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		248437065	813556	1	2300											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	44	0	0	0	1	0	41	44					T	140453136	A	T	140453136	3	4	136	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DO-A1K0-01A-11D-A13W-08		140453136	18685527	2	2301											
FAM78A	286336	broad.mit.edu	37	9	134136508	134136508	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr9:134136508G>A	ENST00000372271.3	-	2	920	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FAM78A_ENST00000372269.3_Missense_Mutation_p.R182W|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	185								p.R185W(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTCTGGTCCCGGTAGATATTG	0.572																																						uc004cak.3																			1	Substitution - Missense(1)	p.R185W(2)	endometrium(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(553-555)Cgg>Tgg		Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA.							114	103	107					9																	134136508		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136508G>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.553C>T	9.37:g.134136508G>A	ENSP00000361345:p.Arg185Trp		Somatic				FAM78A_uc004caj.3_Missense_Mutation_p.R182W	p.R185W	NM_033387	NP_203745	WXS	Illumina GAIIx	Phase_I	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	1	893	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	185					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.553C>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867165	0.91511	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.94184	-3.37;-3.37;-3.37	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97034	0.9752	10	0.87932	D	0	-39.9624	17.1064	0.86664	0.0:0.0:1.0:0.0	.	185;182	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	W	182;185;154	ENSP00000361343:R182W;ENSP00000361345:R185W;ENSP00000419959:R154W	ENSP00000361343:R182W	R	-	1	2	FAM78A	133126329	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.428000	0.59894	2.337000	0.79520	0.462000	0.41574	CGG		0.572	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		39	46	0	0	0	1	0	39	46					A	134136508	G	A	134136508	3	1	136	1	0	0	0	0	1	0	0	0	5626	1115	39	1	302	1	FAM78A	9	134136508	Missense_Mutation	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		134136508	7076923	3	2302											
GBF1	8729	broad.mit.edu	37	10	104125331	104125332	+	Frame_Shift_Ins	INS	-	-	T	rs141624228		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr10:104125331_104125332insT	ENST00000369983.3	+	18	2541_2542	c.2281_2282insT	c.(2281-2283)attfs	p.I761fs		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	761	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCGCAAAAACATTGACCTGTTG	0.505																																						uc001kux.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2281-2283)attfs		Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104125331_104125332insT	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2283dupT	10.37:g.104125333_104125333dupT	ENSP00000359000:p.Ile761fs		Somatic				GBF1_uc001kuy.2_Frame_Shift_Ins_p.I761fs|GBF1_uc001kuz.2_Frame_Shift_Ins_p.I762fs	p.I761fs	NM_004193	NP_004184	WXS	Illumina GAIIx	Phase_I	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	17	2575_2576	+		Colorectal(252;0.0236)	761			SEC7.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Frame_Shift_Ins	INS	ENST00000369983.3	37	c.2281_2282insT	CCDS7533.1																																																																																				0.505	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			60	64						60	64	---	---	---	---	T	104125332	-	T	104125331	7	5	136	1	0	1	1	0	0	0	0	0	6271	217	8	0	2347	0	GBF1	10	104125331	Frame_Shift_Ins	INS	-	TCGA-DO-A1K0-01A-11D-A13W-08		104125331	31409416	4	2303											
ZP1	22917	broad.mit.edu	37	11	60636685	60636685	+	Silent	SNP	G	G	A	rs549988411		TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr11:60636685G>A	ENST00000278853.5	+	2	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	88					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCAGGCCGCAGGAGCCTG	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		20096	0		0	False		,,,				2504	0					uc001nqd.3																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(262-264)ccG>ccA		Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.							58	54	55					11																	60636685		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60636685G>A	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.264G>A	11.37:g.60636685G>A			Somatic				ZP1_uc001nqe.3_5'Flank	p.P88P	NM_207341	NP_997224	WXS	Illumina GAIIx	Phase_I	P60852	ZP1_HUMAN			1	284	+			88						Silent	SNP	ENST00000278853.5	37	c.264G>A	CCDS31572.1																																																																																				0.582	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		3	22	0	0	0	1	0	3	22					A	60636685	G	A	60636685	2	1	136	1	0	0	0	0	0	0	0	1	18212	1074	38	1		1	ZP1	11	60636685	Silent	SNP	G	TCGA-DO-A1K0-01A-11D-A13W-08		60636685	74369831	5	2304											
ARID2	196528	broad.mit.edu	37	12	46125035	46125035	+	Silent	SNP	A	A	G			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr12:46125035A>G	ENST00000334344.6	+	3	394	c.222A>G	c.(220-222)gaA>gaG	p.E74E	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	74	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)		AAATTGTTGAAGAGTTCAACT	0.373			"N, S, F"		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0		p.E74*(1)		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.(220-222)gaA>gaG		Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.							139	145	143					12																	46125035		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46125035A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.222A>G	12.37:g.46125035A>G			Somatic				ARID2_uc001ror.3_Silent_p.E74E	p.E74E	NM_152641	NP_689854	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	222	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	74			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.222A>G	CCDS31783.1																																																																																				0.373	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		4	102	0	0	0	1	0	4	102					G	46125035	A	G	46125035	2	3	136	1	0	0	0	0	0	0	0	1	915	69	3	3		3	ARID2	12	46125035	Silent	SNP	A	TCGA-DO-A1K0-01A-11D-A13W-08		46125035	87726860	6	2305											
ZFHX3	463	broad.mit.edu	37	16	72831869	72831869	+	Missense_Mutation	SNP	T	T	C			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr16:72831869T>C	ENST00000268489.5	-	9	5384	c.4712A>G	c.(4711-4713)cAt>cGt	p.H1571R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.H657R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1571					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)				CTTTAACTTATGCAGGTGGGA	0.463																																						uc002fck.3																			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.(4711-4713)cAt>cGt		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							61	61	61					16																	72831869		2198	4300	6498	SO:0001583	missense	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.chr16:72831869T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4712A>G	16.37:g.72831869T>C	ENSP00000268489:p.His1571Arg		Somatic				ZFHX3_uc002fcl.3_Missense_Mutation_p.H657R	p.H1571R	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			8	5385	-		Ovarian(137;0.13)	1571					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4712A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507160	0.44558	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75938	-0.98;-0.97	5.78	5.78	0.91487	Zinc finger, U1-type (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000087	D	0.84197	0.5419	L	0.61218	1.895	0.80722	D	1	D	0.62365	0.991	D	0.68192	0.956	D	0.85578	0.1238	10	0.72032	D	0.01	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1571	Q15911	ZFHX3_HUMAN	R	1571;657	ENSP00000268489:H1571R;ENSP00000438926:H657R	ENSP00000268489:H1571R	H	-	2	0	ZFHX3	71389370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.333000	0.79357	0.533000	0.62120	CAT		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		48	53	0	0	0	1	0	48	53					C	72831869	T	C	72831869	3	2	136	1	0	0	0	0	1	0	0	0	17631	1464	51	3	6407	3	ZFHX3	16	72831869	Missense_Mutation	SNP	T	TCGA-DO-A1K0-01A-11D-A13W-08		72831869	17522884	7	2306											
PRDM15	63977	broad.mit.edu	37	21	43243760	43243760	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chr21:43243760C>T	ENST00000269844.3	-	21	2883	c.2773G>A	c.(2773-2775)Ggc>Agc	p.G925S	PRDM15_ENST00000398548.1_Missense_Mutation_p.G596S|PRDM15_ENST00000447207.2_Missense_Mutation_p.G559S|PRDM15_ENST00000538201.1_Missense_Mutation_p.G579S|PRDM15_ENST00000422911.1_Missense_Mutation_p.G616S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCTTGTCGCCGTGGGTGAGC	0.607																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2773-2775)Ggc>Agc		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							90	65	73					21																	43243760		2198	4290	6488	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43243760C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2773G>A	21.37:g.43243760C>T	ENSP00000269844:p.Gly925Ser		Somatic				PRDM15_uc002yzo.3_Missense_Mutation_p.G596S|PRDM15_uc002yzp.3_Missense_Mutation_p.G616S|PRDM15_uc002yzr.1_Missense_Mutation_p.G616S	p.G925S	NM_022115	NP_071398	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			20	2884	-			925					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2773G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	36	5.624944	0.96660	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	4.99	4.99	0.66335	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49966	0.1588	L	0.28694	0.88	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	0.53528	-0.8426	9	0.72032	D	0.01	-36.4206	17.6069	0.88040	0.0:1.0:0.0:0.0	.	925;616;596	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	616;596;579;559;925	ENSP00000408592:G616S;ENSP00000381556:G596S;ENSP00000444044:G579S;ENSP00000390245:G559S;ENSP00000269844:G925S	ENSP00000269844:G925S	G	-	1	0	PRDM15	42116829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.471000	0.80985	2.470000	0.83445	0.556000	0.70494	GGC		0.607	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		2	0	0	0	0	1	0	2	0					T	43243760	C	T	43243760	3	4	136	1	0	0	0	0	1	0	0	0	12456	652	23	1	1794	1	PRDM15	21	43243760	Missense_Mutation	SNP	C	TCGA-DO-A1K0-01A-11D-A13W-08		43243760	4886135	8	2307											
GRIA3	2892	broad.mit.edu	37	X	122616871	122616871	+	Silent	SNP	T	T	C			TCGA-DO-A1K0-01A-11D-A13W-08	TCGA-DO-A1K0-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	459aa6ca-af9e-4686-951f-36a18e00524a	0c694145-ea2a-4b7c-949b-6aea0149a530	g.chrX:122616871T>C	ENST00000371251.1	+	15	2713	c.2661T>C	c.(2659-2661)taT>taC	p.Y887Y	GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000264357.5_Silent_p.Y887Y|GRIA3_ENST00000371256.5_Silent_p.Y887Y			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	887					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACAACGTGTATGGAACAGAGA	0.383																																						uc004etq.4																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(2659-2661)taT>taC		Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						114	102	106					X																	122616871		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122616871T>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2661T>C	X.37:g.122616871T>C			Somatic				GRIA3_uc004etr.4_Silent_p.Y887Y|GRIA3_uc004ets.4_Non-coding_Transcript	p.Y887Y	NM_007325	NP_015564	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			14	2953	+			887					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.2661T>C	CCDS14604.1																																																																																				0.383	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		10	120	0	0	0	1	0	10	120					C	122616871	T	C	122616871	2	2	136	1	0	0	0	0	0	0	0	1	6769	1471	51	3		3	GRIA3	23	122616871	Silent	SNP	T	TCGA-DO-A1K0-01A-11D-A13W-08		122616871	32653689	9	2308											
UBE4B	10277	broad.mit.edu	37	1	10209302	10209302	+	Silent	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:10209302T>C	ENST00000253251.8	+	19	3104	c.2265T>C	c.(2263-2265)taT>taC	p.Y755Y	UBE4B_ENST00000377157.3_Silent_p.Y639Y|UBE4B_ENST00000343090.6_Silent_p.Y884Y					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGAGTTTTATGTAGAAGATG	0.274																																						uc021ogc.1																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2803-2805)taT>taC		Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.							124	129	128					1																	10209302		2203	4299	6502	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10209302T>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"U-box domain containing"	12500	protein-coding gene	gene with protein product		613565	"ubiquitination factor E4B (homologous to yeast UFD2)", "ubiquitination factor E4B (UFD2 homolog, yeast)"			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2265T>C	1.37:g.10209302T>C			Somatic				UBE4B_uc001aqs.4_Silent_p.Y884Y|UBE4B_uc001aqr.4_Silent_p.Y755Y|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.Y339Y	p.Y935Y	NM_001105562	NP_001099032	WXS	Illumina GAIIx	Phase_I	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	20	3493	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	884						Silent	SNP	ENST00000253251.8	37	c.2805T>C	CCDS110.1																																																																																				0.274	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		5	53	0	0	0	1	0	5	53					C	10209302	T	C	10209302	2	2	137	1	0	0	0	0	0	0	0	1	16880	1471	51	3		3	UBE4B	1	10209302	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		10209302	239041319	1	2309											
TCEB3	6924	broad.mit.edu	37	1	24078449	24078449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:24078449C>T	ENST00000418390.2	+	4	1703	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.Q452*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	478					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		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;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGACTCAGTTCAGAAATTACC	0.433											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bho.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1432-1434)Cag>Tag		Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.							54	64	61					1																	24078449		2190	4292	6482	SO:0001587	stop_gained	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078449C>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1432C>T	1.37:g.24078449C>T	ENSP00000395574:p.Gln478*		Somatic	OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.Q478*	NM_003198	NP_003189	WXS	Illumina GAIIx	Phase_I	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	1492	+		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)	478					B2R7Q8|Q8IXH1	Nonsense_Mutation	SNP	ENST00000418390.2	37	c.1432C>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	39	7.353270	0.98231	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.96	5.96	0.96718	.	0.414131	0.23832	N	0.044122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-7.5038	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	.	.	.	X	478	.	ENSP00000395574:Q478X	Q	+	1	0	TCEB3	23951036	0.999000	0.42202	0.943000	0.38184	0.716000	0.41182	4.119000	0.57891	2.832000	0.97577	0.655000	0.94253	CAG		0.433	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		4	72	0	0	0	1	0	4	72					T	24078449	C	T	24078449	4	4	137	1	0	0	0	0	0	1	0	0	15678	827	29	2	1446	2	TCEB3	1	24078449	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	13869147	24078449	225172172	2	2310											
MACF1	23499	broad.mit.edu	37	1	39926406	39926406	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:39926406G>A	ENST00000372915.3	+	91	21247	c.21160G>A	c.(21160-21162)Gat>Aat	p.D7054N	MACF1_ENST00000567887.1_Missense_Mutation_p.D7192N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5096N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4966N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5096N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5598N|MACF1_ENST00000317713.7_Missense_Mutation_p.D5096N|MACF1_ENST00000564288.1_Missense_Mutation_p.D7155N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7054	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			CCGGCGCATTGATAAGGACCA	0.428																																						uc021olw.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.(16792-16794)Gat>Aat		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							178	175	176					1																	39926406		2203	4300	6503	SO:0001583	missense	23499				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	g.chr1:39926406G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	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"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21160G>A	1.37:g.39926406G>A	ENSP00000362006:p.Asp7054Asn		Somatic				MACF1_uc021ols.1_Missense_Mutation_p.D5093N|MACF1_uc021olt.1_Missense_Mutation_p.D5096N|MACF1_uc001cde.2_5'Flank	p.D5598N	NM_012090	NP_036222	WXS	Illumina GAIIx	Phase_I	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)		56	16792	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7054					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16792G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.849041	0.97023	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.81	5.81	0.92471	EF-hand-like domain (1);	0.000000	0.64402	D	0.000006	D	0.98254	0.9422	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	D	0.98448	1.0590	9	.	.	.	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	7054;5096	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	N	5096;7054;5096;5096;4966;5598	ENSP00000439537:D5096N;ENSP00000362006:D7054N;ENSP00000354573:D5096N;ENSP00000313438:D5096N;ENSP00000444364:D4966N;ENSP00000289893:D5598N	.	D	+	1	0	MACF1	39698993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	GAT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	150	0	0	0	1	0	10	150					A	39926406	G	A	39926406	3	1	137	1	0	0	0	0	1	0	0	0	9144	1290	45	2	21787	2	MACF1	1	39926406	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	15847957	39926406	209324215	3	2311											
NASP	4678	broad.mit.edu	37	1	46080813	46080813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:46080813C>T	ENST00000350030.3	+	10	1882	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	NASP_ENST00000402363.3_Nonsense_Mutation_p.Q601*|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000537798.1_Nonsense_Mutation_p.Q535*|NASP_ENST00000351223.3_Nonsense_Mutation_p.Q260*|NASP_ENST00000372052.4_Nonsense_Mutation_p.Q233*	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	599	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.Q601*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTACAACTCTCAGTATGATGA	0.512																																						uc001coi.2																			1	Substitution - Nonsense(1)	p.Q601*(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1795-1797)Cag>Tag		Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.							103	96	98					1																	46080813		2203	4300	6503	SO:0001587	stop_gained	4678				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46080813C>T	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1795C>T	1.37:g.46080813C>T	ENSP00000255120:p.Gln599*		Somatic				NASP_uc021omz.1_Nonsense_Mutation_p.Q601*|NASP_uc001coj.2_Nonsense_Mutation_p.Q260*|NASP_uc010olr.2_Nonsense_Mutation_p.Q535*|NASP_uc001col.2_Nonsense_Mutation_p.Q107*	p.Q599*	NM_002482	NP_002473	WXS	Illumina GAIIx	Phase_I	P49321	NASP_HUMAN			9	1954	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		599			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Nonsense_Mutation	SNP	ENST00000350030.3	37	c.1795C>T	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.551923|6.551923	0.97658|0.97658	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223|ENST00000534450	.|T	.|0.63417	.|-0.04	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.099745|.	0.64402|.	D|.	0.000001|.	.|T	.|0.64918	.|0.2642	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71377	.|-0.4611	.|4	0.87932|.	D|.	0|.	-9.8764|-9.8764	11.3421|11.3421	0.49539|0.49539	0.1405:0.724:0.1355:0.0|0.1405:0.724:0.1355:0.0	.|.	.|.	.|.	.|.	X|L	535;601;499;196;599;233;260|28	.|ENSP00000434240:S28L	ENSP00000345532:Q499X|.	Q|S	+|+	1|2	0|0	NASP|NASP	45853400|45853400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.344000|4.344000	0.59354|0.59354	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.512	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		4	85	0	0	0	1	0	4	85					T	46080813	C	T	46080813	4	4	137	1	0	0	0	0	0	1	0	0	10172	827	29	2	1910	2	NASP	1	46080813	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6154407	46080813	203169808	4	2312											
PTPN22	26191	broad.mit.edu	37	1	114380398	114380398	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:114380398G>A	ENST00000359785.5	-	13	1759	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.P298S|PTPN22_ENST00000525799.1_Missense_Mutation_p.P415S|PTPN22_ENST00000528414.1_Missense_Mutation_p.P487S|PTPN22_ENST00000420377.2_Missense_Mutation_p.P542S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	542					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACCACTTGGAGGCCATGAT	0.393																																						uc001eds.3																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1624-1626)Cca>Tca		Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.							139	134	136					1																	114380398		2203	4300	6503	SO:0001583	missense	26191				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity	g.chr1:114380398G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1624C>T	1.37:g.114380398G>A	ENSP00000352833:p.Pro542Ser		Somatic				PTPN22_uc021orx.1_Missense_Mutation_p.P542S|PTPN22_uc009wgq.3_Missense_Mutation_p.P487S|PTPN22_uc021ory.1_Missense_Mutation_p.P518S|PTPN22_uc010owo.2_Missense_Mutation_p.P298S|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P542S|PTPN22_uc009wgs.2_Missense_Mutation_p.P415S|PTPN22_uc001edu.2_Missense_Mutation_p.P542S	p.P542S	NM_015967	NP_057051	WXS	Illumina GAIIx	Phase_I	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1754	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	542					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1624C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231022	0.39399	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.96	5.06	0.68205	.	0.186873	0.38436	N	0.001686	T	0.66307	0.2776	M	0.62723	1.935	0.48830	D	0.999714	D;D;P;B;D;D	0.89917	1.0;1.0;0.925;0.379;0.98;0.997	D;D;P;B;P;P	0.91635	0.999;0.999;0.601;0.15;0.898;0.863	T	0.70234	-0.4928	10	0.51188	T	0.08	.	9.1097	0.36720	0.1634:0.0:0.8366:0.0	.	298;415;542;487;542;542	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	S	542;487;298;542;415;542	ENSP00000352833:P542S;ENSP00000435176:P487S;ENSP00000439372:P298S;ENSP00000388229:P542S;ENSP00000432674:P415S	ENSP00000346621:P542S	P	-	1	0	PTPN22	114181921	0.994000	0.37717	0.956000	0.39512	0.327000	0.28475	0.996000	0.29719	1.539000	0.49286	0.655000	0.94253	CCA		0.393	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		5	66	0	0	0	1	0	5	66					A	114380398	G	A	114380398	3	1	137	1	0	0	0	0	1	0	0	0	12787	1174	41	2	858	2	PTPN22	1	114380398	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	68299585	114380398	134870223	5	2313											
INSRR	3645	broad.mit.edu	37	1	156821796	156821796	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:156821796G>A	ENST00000368195.3	-	3	1221	c.825C>T	c.(823-825)gtC>gtT	p.V275V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	275					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCAGCTGTGACACAGCGCC	0.657																																						uc010pht.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(823-825)gtC>gtT		Homo sapiens insulin receptor-related receptor (INSRR), mRNA.							26	24	25					1																	156821796		2203	4299	6502	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821796G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.825C>T	1.37:g.156821796G>A			Somatic				NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.V275V	p.V275V	NM_014215	NP_055030	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			2	1124	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		275					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.825C>T	CCDS1160.1																																																																																				0.657	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		5	35	0	0	0	1	0	5	35					A	156821796	G	A	156821796	2	1	137	1	0	0	0	0	0	0	0	1	7774	1277	45	2		2	INSRR	1	156821796	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	42441398	156821796	92428825	6	2314											
ANGPTL1	9068	broad.mit.edu	37	1	178820385	178820385	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:178820385C>T	ENST00000234816.2	-	6	1802	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G452E	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	452	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTACCATACTCCATTTAGGTT	0.438																																						uc001gma.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(1354-1356)gGa>gAa		Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.							166	149	155					1																	178820385		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178820385C>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1355G>A	1.37:g.178820385C>T	ENSP00000234816:p.Gly452Glu		Somatic				RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G452E	p.G452E	NM_004673	NP_004664	WXS	Illumina GAIIx	Phase_I	O95841	ANGL1_HUMAN			5	1831	-			452			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.1355G>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228456	0.95173	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.94138	-3.36;-3.36	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	452	O95841	ANGL1_HUMAN	E	452	ENSP00000234816:G452E;ENSP00000356601:G452E	ENSP00000234816:G452E	G	-	2	0	ANGPTL1	177087008	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGA		0.438	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		6	76	0	0	0	1	0	6	76					T	178820385	C	T	178820385	3	4	137	1	0	0	0	0	1	0	0	0	613	855	30	2	124	2	ANGPTL1	1	178820385	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	21998589	178820385	70430236	7	2315											
ACTA1	58	broad.mit.edu	37	1	229567331	229567331	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:229567331G>C	ENST00000366684.3	-	7	1151	c.1049C>G	c.(1048-1050)tCg>tGg	p.S350W	ACTA1_ENST00000366683.2_Missense_Mutation_p.S262W	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	350			S -> L (in NEM3).		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGTGGACAGCGAGGCCAGGAT	0.627																																						uc001htm.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	GRCh37	CM034515	ACTA1	M		c.(1048-1050)tCg>tGg		Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	Dornase Alfa(DB00003)						90	89	90					1																	229567331		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567331G>C	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.1049C>G	1.37:g.229567331G>C	ENSP00000355645:p.Ser350Trp		Somatic					p.S350W	NM_001100	NP_001091	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			6	1154	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	350		S -> L (in NEM3).			P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.1049C>G	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818011	0.50633	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.95588	-3.75;-3.75	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98776	1.0730	10	0.87932	D	0	.	16.4141	0.83728	0.0:0.0:1.0:0.0	.	350	P68133	ACTS_HUMAN	W	350;260;262;315;227	ENSP00000355645:S350W;ENSP00000355644:S262W	ENSP00000312351:S260W	S	-	2	0	ACTA1	227633954	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.540000	0.98080	2.163000	0.67991	0.563000	0.77884	TCG		0.627	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		11	194	0	0	0	1	0	11	194					C	229567331	G	C	229567331	3	2	137	1	0	0	0	0	1	0	0	0	191	1059	37	4	88	4	ACTA1	1	229567331	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	50746946	229567331	19683290	8	2316											
FBXO11	80204	broad.mit.edu	37	2	48040983	48040983	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:48040983C>G	ENST00000403359.3	-	17	2102	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	FBXO11_ENST00000316377.4_Missense_Mutation_p.R593T|FBXO11_ENST00000434523.2_Missense_Mutation_p.R101T|FBXO11_ENST00000402508.1_Missense_Mutation_p.R593T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	677					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGTTGCGTCTAATTTTGGG	0.348			"Mis, F, D"		DLBCL																																	uc002rwe.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2029-2031)aGa>aCa		Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.							126	124	125					2																	48040983		2202	4300	6502	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48040983C>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2030G>C	2.37:g.48040983C>G	ENSP00000384823:p.Arg677Thr		Somatic				FBXO11_uc010fbl.3_Missense_Mutation_p.R593T|FBXO11_uc010fbk.3_Missense_Mutation_p.R101T|FBXO11_uc021vhe.1_Missense_Mutation_p.R477T	p.R677T	NM_001190274	NP_001177203	WXS	Illumina GAIIx	Phase_I	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		16	2103	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	677					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2030G>C	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.041062|4.041062	0.75732|0.75732	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523|ENST00000493962	T;T;T;T|.	0.79653|.	-1.29;-1.29;-1.29;-1.29|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pectin lyase fold/virulence factor (2);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.67258|.	0.2874|.	L|L	0.39692|0.39692	1.235|1.235	0.80722|0.80722	D|D	1|1	B;P|.	0.34699|.	0.213;0.464|.	B;P|.	0.45406|.	0.262;0.479|.	T|.	0.61729|.	-0.7003|.	10|.	0.15066|.	T|.	0.55|.	-0.4741|-0.4741	19.5994|19.5994	0.95554|0.95554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;677|.	B3KUR1;Q86XK2|.	.;FBX11_HUMAN|.	T|Y	593;677;593;101|468	ENSP00000385398:R593T;ENSP00000384823:R677T;ENSP00000323822:R593T;ENSP00000397359:R101T|.	ENSP00000323822:R593T|.	R|X	-|-	2|3	0|2	FBXO11|FBXO11	47894487|47894487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	AGA|TAG		0.348	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		6	34	0	0	0	1	0	6	34					G	48040983	C	G	48040983	3	3	137	1	0	0	0	0	1	0	0	0	5727	913	32	4	867	4	FBXO11	2	48040983	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		48040983	195158390	9	2317											
ERCC3	2071	broad.mit.edu	37	2	128036808	128036808	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:128036808C>G	ENST00000285398.2	-	10	1765	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	ERCC3_ENST00000493187.2_Missense_Mutation_p.K493N	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	557	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|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)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGACAATAATCTTGTCATTCC	0.398			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1669-1671)aaG>aaC	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.							138	122	128					2																	128036808		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|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|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128036808C>G	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1671G>C	2.37:g.128036808C>G	ENSP00000285398:p.Lys557Asn		Somatic				ERCC3_uc002toe.1_Missense_Mutation_p.K312N|ERCC3_uc002tof.1_Missense_Mutation_p.K493N|ERCC3_uc002tog.1_Missense_Mutation_p.K493N	p.K557N	NM_000122	NP_000113	WXS	Illumina GAIIx	Phase_I	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	9	1766	-	Colorectal(110;0.1)		557			Helicase C-terminal.		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1671G>C	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653280	0.67472	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.80994	-1.44;-1.44	5.1	3.32	0.38043	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	H	0.95328	3.655	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.91222	0.5007	10	0.87932	D	0	-30.7812	9.585	0.39510	0.0:0.7543:0.0:0.2457	.	557	P19447	ERCC3_HUMAN	N	557;493	ENSP00000285398:K557N;ENSP00000444796:K493N	ENSP00000285398:K557N	K	-	3	2	ERCC3	127753278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.609000	0.36858	0.747000	0.32809	0.591000	0.81541	AAG		0.398	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		5	29	0	0	0	1	0	5	29					G	128036808	C	G	128036808	3	3	137	1	0	0	0	0	1	0	0	0	5214	912	32	4	701	4	ERCC3	2	128036808	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	79995825	128036808	115162565	10	2318											
IRS1	3667	broad.mit.edu	37	2	227662792	227662792	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:227662792G>A	ENST00000305123.5	-	1	1683	c.663C>T	c.(661-663)ttC>ttT	p.F221F	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	221	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTCGATGAAGAAGAAGTTTT	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(661-663)ttC>ttT		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							77	84	82					2																	227662792		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662792G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.663C>T	2.37:g.227662792G>A			Somatic	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc021vxn.1_Silent_p.F221F	p.F221F	NM_005544	NP_005535	WXS	Illumina GAIIx	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	715	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	221			IRS-type PTB.			Silent	SNP	ENST00000305123.5	37	c.663C>T	CCDS2463.1																																																																																				0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		9	114	0	0	0	1	0	9	114					A	227662792	G	A	227662792	2	1	137	1	0	0	0	0	0	0	0	1	7840	933	33	2		2	IRS1	2	227662792	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	99625984	227662792	15536581	11	2319											
ITPR1	3708	broad.mit.edu	37	3	4715019	4715019	+	Missense_Mutation	SNP	G	G	A	rs369080877		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:4715019G>A	ENST00000443694.2	+	18	2359	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ITPR1_ENST00000423119.2_Missense_Mutation_p.V802M|ITPR1_ENST00000357086.4_Missense_Mutation_p.V802M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V802M|ITPR1_ENST00000456211.2_Missense_Mutation_p.V787M|ITPR1_ENST00000302640.8_Missense_Mutation_p.V787M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	802					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)	AGTCACCCCCGTGAAATATGC	0.562																																						uc003bqc.3																			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.(2359-2361)Gtg>Atg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.		G	MET/VAL,MET/VAL,MET/VAL	0,3922		0,0,1961	90	96	94		2404,2359,2359	5.0	1.0	3		94	2,8300		0,2,4149	no	missense,missense,missense	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	21,21,21	0,2,6110	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging	802/2711,787/2744,787/2696	4715019	2,12222	1961	4151	6112	SO:0001583	missense	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.chr3:4715019G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2359G>A	3.37:g.4715019G>A	ENSP00000401671:p.Val787Met		Somatic				ITPR1_uc021wsi.1_Missense_Mutation_p.V802M|ITPR1_uc021wsj.1_Missense_Mutation_p.V787M|ITPR1_uc011asu.2_Intron	p.V787M	NM_001168272	NP_001161744	WXS	Illumina GAIIx	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	19	2709	+			802					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2359G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110476	0.94292	0.0	2.41E-4	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.1;-3.1;-3.1;-3.11	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.989;0.996;0.995	D	0.96466	0.9345	10	0.54805	T	0.06	.	18.3862	0.90468	0.0:0.0:1.0:0.0	.	787;802;802	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	802;787;802;802;802;787;787	ENSP00000306253:V787M;ENSP00000346595:V802M;ENSP00000405934:V802M;ENSP00000349597:V802M;ENSP00000397885:V787M;ENSP00000401671:V787M	ENSP00000306253:V787M	V	+	1	0	ITPR1	4690019	1.000000	0.71417	0.968000	0.41197	0.971000	0.66376	9.511000	0.98006	2.739000	0.93911	0.491000	0.48974	GTG		0.562	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		12	124	0	0	0	1	0	12	124					A	4715019	G	A	4715019	3	1	137	1	0	0	0	0	1	0	0	0	7920	1145	40	1	2478	1	ITPR1	3	4715019	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		4715019	193307411	12	2320											
EDEM1	9695	broad.mit.edu	37	3	5244672	5244672	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:5244672C>T	ENST00000256497.4	+	5	1013	c.880C>T	c.(880-882)Cct>Tct	p.P294S	EDEM1_ENST00000445686.1_Missense_Mutation_p.P99S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	294					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GACAGGAGTTCCTCCTGACAC	0.512																																						uc003bqi.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(880-882)Cct>Tct		Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.							73	74	74					3																	5244672		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5244672C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.880C>T	3.37:g.5244672C>T	ENSP00000256497:p.Pro294Ser		Somatic				EDEM1_uc011asz.1_Missense_Mutation_p.P72S|EDEM1_uc021wsl.1_Missense_Mutation_p.P99S	p.P294S	NM_014674	NP_055489	WXS	Illumina GAIIx	Phase_I	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	4	1012	+			294					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.880C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803374	0.31869	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	T;T	0.71341	-0.56;-0.56	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	L	0.48642	1.525	0.80722	D	1	B;B;B	0.23058	0.079;0.037;0.008	B;B;B	0.25405	0.029;0.06;0.034	T	0.61387	-0.7073	10	0.25751	T	0.34	-20.6571	19.2502	0.93921	0.0:1.0:0.0:0.0	.	99;294;72	B4DXP3;Q92611;B4DPV5	.;EDEM1_HUMAN;.	S	72;294;99	ENSP00000256497:P294S;ENSP00000394099:P99S	ENSP00000256497:P294S	P	+	1	0	EDEM1	5219672	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.349000	0.79376	2.532000	0.85374	0.650000	0.86243	CCT		0.512	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		7	76	0	0	0	1	0	7	76					T	5244672	C	T	5244672	3	4	137	1	0	0	0	0	1	0	0	0	4911	855	30	2	898	2	EDEM1	3	5244672	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	529653	5244672	192777758	13	2321											
NPRL2	10641	broad.mit.edu	37	3	50386439	50386439	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:50386439C>T	ENST00000232501.3	-	5	889	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000232508.5_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	151					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTTGGACTCATCTGCAGGG	0.557																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(451-453)Gag>Aag		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.							74	77	76					3																	50386439		2203	4300	6503	SO:0001583	missense	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50386439C>T	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"tumor suppressor candidate 4"	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.451G>A	3.37:g.50386439C>T	ENSP00000232501:p.Glu151Lys		Somatic				CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.E151K	NM_006545	NP_006536	WXS	Illumina GAIIx	Phase_I	Q8WTW4	NPRL2_HUMAN			4	854	-			151					A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	ENST00000232501.3	37	c.451G>A	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572115	0.86542	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.087462	0.85682	D	0.000000	T	0.67268	0.2875	M	0.62088	1.915	0.80722	D	1	B	0.23990	0.095	B	0.31101	0.124	T	0.62286	-0.6886	9	0.16420	T	0.52	-3.596	19.5689	0.95404	0.0:1.0:0.0:0.0	.	151	Q8WTW4	NPRL2_HUMAN	K	151	.	ENSP00000232501:E151K	E	-	1	0	NPRL2	50361443	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.748000	0.85085	2.626000	0.88956	0.655000	0.94253	GAG		0.557	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		9	101	0	0	0	1	0	9	101					T	50386439	C	T	50386439	3	4	137	1	0	0	0	0	1	0	0	0	10597	835	29	2	719	2	NPRL2	3	50386439	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	45141767	50386439	147635991	14	2322											
ALAS1	211	broad.mit.edu	37	3	52238848	52238848	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:52238848C>T	ENST00000394965.2	+	6	1077	c.717C>T	c.(715-717)ctC>ctT	p.L239L	ALAS1_ENST00000469224.1_Silent_p.L239L|ALAS1_ENST00000484952.1_Silent_p.L239L|ALAS1_ENST00000310271.2_Silent_p.L239L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	239					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CAGACTCCCTCATCACCAAAA	0.473																																						uc011bec.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(766-768)ctC>ctT		Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						92	88	89					3																	52238848		2203	4300	6503	SO:0001819	synonymous_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52238848C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.717C>T	3.37:g.52238848C>T			Somatic				ALAS1_uc003dcy.2_Silent_p.L239L|ALAS1_uc003dcz.2_Silent_p.L239L	p.L256L	NM_199166	NP_954635	WXS	Illumina GAIIx	Phase_I	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	5	1088	+			239						Silent	SNP	ENST00000394965.2	37	c.768C>T	CCDS2847.1																																																																																				0.473	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			7	91	0	0	0	1	0	7	91					T	52238848	C	T	52238848	2	4	137	1	0	0	0	0	0	0	0	1	484	813	29	2		2	ALAS1	3	52238848	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1852409	52238848	145783582	15	2323											
PARP14	54625	broad.mit.edu	37	3	122437591	122437591	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:122437591C>G	ENST00000474629.2	+	14	4859	c.4593C>G	c.(4591-4593)atC>atG	p.I1531M	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1531	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGATTGTATCAGTGAGTTTA	0.388																																						uc003efq.4																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(4591-4593)atC>atG		Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.							186	184	185					3																	122437591		1872	4113	5985	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437591C>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4593C>G	3.37:g.122437591C>G	ENSP00000418194:p.Ile1531Met		Somatic				PARP14_uc021xdc.1_Missense_Mutation_p.I1395M|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.I1248M|PARP14_uc003efs.1_Missense_Mutation_p.I1248M	p.I1531M	NM_017554	NP_060024	WXS	Illumina GAIIx	Phase_I	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	13	4652	+			1531			WWE.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4593C>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637149	0.29157	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.31769	1.48	5.05	-1.38	0.09027	WWE domain (1);	0.792551	0.11408	N	0.567081	T	0.21921	0.0528	L	0.48362	1.52	0.09310	N	1	P;P	0.42735	0.571;0.788	B;B	0.42343	0.121;0.384	T	0.12863	-1.0531	10	0.40728	T	0.16	.	0.9815	0.01437	0.2336:0.366:0.1142:0.2862	.	1531;1531	Q460N5-4;Q460N5	.;PAR14_HUMAN	M	1531;1450;134;527	ENSP00000418194:I1531M	ENSP00000310633:I134M	I	+	3	3	PARP14	123920281	0.000000	0.05858	0.017000	0.16124	0.958000	0.62258	0.077000	0.14738	-0.157000	0.11059	-0.145000	0.13849	ATC		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		6	159	0	0	0	1	0	6	159					G	122437591	C	G	122437591	3	3	137	1	0	0	0	0	1	0	0	0	11458	816	29	4	4647	4	PARP14	3	122437591	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	70198743	122437591	75584839	16	2324											
AADACL2	344752	broad.mit.edu	37	3	151475099	151475099	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:151475099C>T	ENST00000356517.3	+	5	1032	c.923C>T	c.(922-924)tCa>tTa	p.S308L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	308						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAGTTATTCATTGCCAGGA	0.363																																						uc003ezc.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(922-924)tCa>tTa		Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.							133	133	133					3																	151475099		2203	4298	6501	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475099C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.923C>T	3.37:g.151475099C>T	ENSP00000348911:p.Ser308Leu		Somatic				MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.S95L	p.S308L	NM_207365	NP_997248	WXS	Illumina GAIIx	Phase_I	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1043	+			308					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.923C>T	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615437	0.46631	.	.	ENSG00000197953	ENST00000356517	T	0.04234	3.67	5.01	3.13	0.36017	.	0.758589	0.12382	N	0.473814	T	0.09730	0.0239	M	0.79693	2.465	0.09310	N	1	B	0.21452	0.056	B	0.30646	0.118	T	0.16928	-1.0386	10	0.59425	D	0.04	-6.1238	6.3254	0.21240	0.18:0.7249:0.0:0.0952	.	308	Q6P093	ADCL2_HUMAN	L	308	ENSP00000348911:S308L	ENSP00000348911:S308L	S	+	2	0	AADACL2	152957789	0.000000	0.05858	0.009000	0.14445	0.387000	0.30353	0.151000	0.16283	1.351000	0.45789	0.591000	0.81541	TCA		0.363	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		8	105	0	0	0	1	0	8	105					T	151475099	C	T	151475099	3	4	137	1	0	0	0	0	1	0	0	0	11	838	29	2	941	2	AADACL2	3	151475099	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29037508	151475099	46547331	17	2325											
CD38	952	broad.mit.edu	37	4	15780234	15780234	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:15780234G>A	ENST00000226279.3	+	1	334	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	66					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTCCTGGCGCGATGCGTCAAG	0.672																																						uc003gol.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(196-198)cGa>cAa		Homo sapiens CD38 molecule (CD38), mRNA.							70	72	71					4																	15780234		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity	g.chr4:15780234G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.197G>A	4.37:g.15780234G>A	ENSP00000226279:p.Arg66Gln		Somatic				CD38_uc021xmk.1_Non-coding_Transcript	p.R66Q	NM_001775	NP_001766	WXS	Illumina GAIIx	Phase_I	P28907	CD38_HUMAN			0	304	+			66					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.197G>A	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461937	0.63513	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.24151	1.87	2.98	2.98	0.34508	.	0.065284	0.64402	D	0.000016	T	0.50667	0.1629	M	0.84948	2.725	0.22330	N	0.999191	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34229	-0.9837	10	0.87932	D	0	.	9.6733	0.40026	0.0:0.0:1.0:0.0	.	66;66	P28907;B2R880	CD38_HUMAN;.	Q	66	ENSP00000226279:R66Q	ENSP00000226279:R66Q	R	+	2	0	CD38	15389332	0.265000	0.24102	0.027000	0.17364	0.009000	0.06853	3.075000	0.50073	1.990000	0.58119	0.462000	0.41574	CGA		0.672	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		11	62	0	0	0	1	0	11	62					A	15780234	G	A	15780234	3	1	137	1	0	0	0	0	1	0	0	0	3009	1058	37	1	199	1	CD38	4	15780234	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		15780234	175374042	18	2326											
MUC7	4589	broad.mit.edu	37	4	71346814	71346814	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:71346814C>G	ENST00000304887.5	+	3	543	c.353C>G	c.(352-354)tCa>tGa	p.S118*	MUC7_ENST00000413702.1_Nonsense_Mutation_p.S118*|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Nonsense_Mutation_p.S118*	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	118	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTTTCCCATCAGCTTCCACC	0.428																																						uc011cat.2																			0		p.P117Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(352-354)tCa>tGa		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							122	115	118					4																	71346814		2203	4300	6503	SO:0001587	stop_gained	4589					extracellular region	protein binding	g.chr4:71346814C>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.353C>G	4.37:g.71346814C>G	ENSP00000302021:p.Ser118*		Somatic				MUC7_uc011cau.2_Nonsense_Mutation_p.S118*|MUC7_uc003hfj.3_Nonsense_Mutation_p.S118*	p.S118*	NM_001145006	NP_689504	WXS	Illumina GAIIx	Phase_I	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	641	+			118			Thr-rich.		Q9UCD7|Q9UCD8	Nonsense_Mutation	SNP	ENST00000304887.5	37	c.353C>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177292	0.57692	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	.	.	.	3.44	2.57	0.30868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.6315	10.1996	0.43075	0.2007:0.7993:0.0:0.0	.	.	.	.	X	118	.	ENSP00000302021:S118X	S	+	2	0	MUC7	71381403	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.245000	0.32790	0.991000	0.38814	-0.181000	0.13052	TCA		0.428	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	69	0	0	0	1	0	5	69					G	71346814	C	G	71346814	4	3	137	1	0	0	0	0	0	1	0	0	9981	838	29	4	359	4	MUC7	4	71346814	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	55566580	71346814	119807462	19	2327											
PRDM8	56978	broad.mit.edu	37	4	81122505	81122505	+	Missense_Mutation	SNP	C	C	T	rs368720297		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:81122505C>T	ENST00000504452.1	+	7	1120	c.281C>T	c.(280-282)tCg>tTg	p.S94L	PRDM8_ENST00000339711.4_Missense_Mutation_p.S94L|PRDM8_ENST00000415738.2_Missense_Mutation_p.S94L			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	94	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						TTGGTCCAATCGGCCAGAGAT	0.483																																						uc010ijo.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(280-282)tCg>tTg		Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.							52	54	53					4																	81122505		1896	4111	6007	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81122505C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.281C>T	4.37:g.81122505C>T	ENSP00000423985:p.Ser94Leu		Somatic				PRDM8_uc003hmb.4_Missense_Mutation_p.S94L|PRDM8_uc003hmc.4_Missense_Mutation_p.S94L	p.S94L	NM_020226	NP_064611	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			6	1120	+			94			SET.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.281C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383814	0.95967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.64085	-0.08;0.5;-0.08;-0.08	5.98	5.98	0.97165	SET domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.35644	1.08	0.80722	D	1	D	0.67145	0.996	P	0.57548	0.823	T	0.69989	-0.4995	10	0.62326	D	0.03	.	20.0665	0.97706	0.0:1.0:0.0:0.0	.	94	Q9NQV8	PRDM8_HUMAN	L	94	ENSP00000423985:S94L;ENSP00000425149:S94L;ENSP00000339764:S94L;ENSP00000406998:S94L	ENSP00000339764:S94L	S	+	2	0	PRDM8	81341529	0.999000	0.42202	0.995000	0.50966	0.571000	0.35966	7.775000	0.85489	2.847000	0.97988	0.591000	0.81541	TCG		0.483	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			8	33	0	0	0	1	0	8	33					T	81122505	C	T	81122505	3	4	137	1	0	0	0	0	1	0	0	0	12462	893	31	1	287	1	PRDM8	4	81122505	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	9775691	81122505	110031771	20	2328											
NNT	23530	broad.mit.edu	37	5	43616136	43616136	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:43616136G>A	ENST00000264663.5	+	4	789	c.568G>A	c.(568-570)Gat>Aat	p.D190N	NNT_ENST00000344920.4_Missense_Mutation_p.D190N|NNT_ENST00000512996.2_Missense_Mutation_p.D59N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	190					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TCAGGGATATGATGCGCTAAG	0.443																																						uc003joe.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(568-570)Gat>Aat		Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						106	108	107					5																	43616136		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43616136G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.568G>A	5.37:g.43616136G>A	ENSP00000264663:p.Asp190Asn		Somatic				NNT_uc003jof.3_Missense_Mutation_p.D190N	p.D190N	NM_012343	NP_892022	WXS	Illumina GAIIx	Phase_I	Q13423	NNTM_HUMAN			3	823	+	Lung NSC(6;2.58e-06)		190					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.568G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935334	0.97122	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.66	5.66	0.87406	Alanine dehydrogenase/PNT, N-terminal (1);	0.093608	0.64402	D	0.000001	D	0.93400	0.7895	H	0.96489	3.83	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.94949	0.8098	10	0.87932	D	0	-13.817	19.7973	0.96491	0.0:0.0:1.0:0.0	.	190	Q13423	NNTM_HUMAN	N	190;190;190;190;59	ENSP00000427670:D190N;ENSP00000421886:D190N;ENSP00000264663:D190N;ENSP00000343873:D190N;ENSP00000426343:D59N	ENSP00000264663:D190N	D	+	1	0	NNT	43651893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.589000	0.98235	2.673000	0.90976	0.650000	0.86243	GAT		0.443	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		9	83	0	0	0	1	0	9	83					A	43616136	G	A	43616136	3	1	137	1	0	0	0	0	1	0	0	0	10510	1290	45	2	578	2	NNT	5	43616136	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		43616136	137299124	21	2329											
PCDHB9	57717	broad.mit.edu	37	5	140567496	140567496	+	IGR	SNP	C	C	T	rs187432634		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:140567496C>T	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						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)			AGCACTGGATCGGGAGGAGCA	0.483																																						uc003liw.1																			0											c.(604-606)Cgg>Tgg		Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.							121	129	126					5																	140567496		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567496C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567496C>T			Somatic					p.R202W	NM_019119	NP_061992	WXS	Illumina GAIIx	Phase_I	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	604	+			202			Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.604C>T	CCDS4251.1																																																																																				0.483	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		22	168	0	0	0	1	0	22	168					T	140567496	C	T	140567496	1	4	137	0	1	0	0	0	0	0	0	0	11549	875	31	1		1	PCDHB9	5	140567496	IGR	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	96951360	140567496	40347764	22	2330											
BNIP1	662	broad.mit.edu	37	5	172573902	172573902	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:172573902C>G	ENST00000351486.5	+	2	149	c.118C>G	c.(118-120)Ctt>Gtt	p.L40V	CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000352523.6_Missense_Mutation_p.L40V|BNIP1_ENST00000393770.4_Missense_Mutation_p.L40V|BNIP1_ENST00000231668.9_Missense_Mutation_p.L40V	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	40					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTAAGTGCTCTTACTGAACT	0.408																																						uc003mci.4																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(118-120)Ctt>Gtt		Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.							89	82	85					5																	172573902		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr5:172573902C>G	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.118C>G	5.37:g.172573902C>G	ENSP00000239215:p.Leu40Val		Somatic				BNIP1_uc003mcj.4_Missense_Mutation_p.L40V|BNIP1_uc003mck.4_Missense_Mutation_p.L40V|BNIP1_uc003mcl.4_Missense_Mutation_p.L40V|BNIP1_uc021yhw.1_5'UTR	p.L40V	NM_013979	NP_053582	WXS	Illumina GAIIx	Phase_I	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	222	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	40					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.118C>G	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005798	0.74932	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.68765	-0.35;0.55;-0.09;0.55	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.983;1.0	D;D;P;D	0.85130	0.997;0.97;0.656;0.996	D	0.85116	0.0966	10	0.56958	D	0.05	.	19.0021	0.92838	0.0:1.0:0.0:0.0	.	40;40;40;40	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	V	40	ENSP00000231668:L40V;ENSP00000239215:L40V;ENSP00000239214:L40V;ENSP00000377365:L40V	ENSP00000231668:L40V	L	+	1	0	BNIP1	172506508	0.997000	0.39634	0.747000	0.31113	0.803000	0.45373	4.066000	0.57520	2.581000	0.87130	0.655000	0.94253	CTT		0.408	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		6	46	0	0	0	1	0	6	46					G	172573902	C	G	172573902	3	3	137	1	0	0	0	0	1	0	0	0	1476	913	32	4	124	4	BNIP1	5	172573902	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	32006406	172573902	8341358	23	2331											
CPEB4	80315	broad.mit.edu	37	5	173337561	173337561	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:173337561G>A	ENST00000265085.5	+	2	2615	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	CPEB4_ENST00000334035.5_Silent_p.E387E|CPEB4_ENST00000517880.1_Silent_p.E5E|CPEB4_ENST00000519835.1_Silent_p.E387E|CPEB4_ENST00000522336.1_Silent_p.E5E|CPEB4_ENST00000520867.1_Silent_p.E387E	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	387					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTCACTGGAGAGTTCACTCA	0.343																																						uc003mcs.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1159-1161)gaG>gaA		Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.							113	114	114					5																	173337561		2203	4300	6503	SO:0001819	synonymous_variant	80315						RNA binding|nucleotide binding	g.chr5:173337561G>A	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1161G>A	5.37:g.173337561G>A			Somatic				CPEB4_uc010jju.2_Silent_p.E387E|CPEB4_uc010jjv.3_Silent_p.E387E|CPEB4_uc011dfg.2_Silent_p.E387E|CPEB4_uc003mcu.4_Silent_p.E5E	p.E387E	NM_030627	NP_085130	WXS	Illumina GAIIx	Phase_I	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2567	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	387					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	c.1161G>A	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042238	0.19748	.	.	ENSG00000113742	ENST00000519152	.	.	.	6.07	4.3	0.51218	.	.	.	.	.	T	0.60222	0.2252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58261	-0.7667	4	.	.	.	-21.4167	9.6798	0.40063	0.2069:0.0:0.7931:0.0	.	.	.	.	K	73	.	.	R	+	2	0	CPEB4	173270167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.962000	0.56766	1.583000	0.49898	-0.140000	0.14226	AGA		0.343	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		9	115	0	0	0	1	0	9	115					A	173337561	G	A	173337561	2	1	137	1	0	0	0	0	0	0	0	1	3803	933	33	2		2	CPEB4	5	173337561	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	763659	173337561	7577699	24	2332											
FLT4	2324	broad.mit.edu	37	5	180048729	180048729	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:180048729C>T	ENST00000261937.6	-	13	1911	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	FLT4_ENST00000393347.3_Silent_p.K611K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.K611K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	611	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCACGTTCTTGCAGTCGA	0.672																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1831-1833)aaG>aaA		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						58	49	52					5																	180048729		2203	4300	6503	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048729C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1833G>A	5.37:g.180048729C>T			Somatic				FLT4_uc003mma.4_Silent_p.K611K|FLT4_uc003mmb.1_Silent_p.K144K|FLT4_uc011dgy.2_Silent_p.K611K	p.K611K	NM_182925	NP_891555	WXS	Illumina GAIIx	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	1912	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	611			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1833G>A	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	62	0	0	0	1	0	5	62					T	180048729	C	T	180048729	2	4	137	1	0	0	0	0	0	0	0	1	5944	912	32	2		2	FLT4	5	180048729	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	6711168	180048729	866531	25	2333											
TNF	7124	broad.mit.edu	37	6	31543617	31543617	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:31543617C>T	ENST00000449264.2	+	1	274	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|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)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|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 interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GCTTGTTCCTCAGCCTCTTCT	0.647									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc003nui.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(97-99)ctC>ctT		Homo sapiens tumor necrosis factor (TNF), mRNA.	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						73	74	74					6																	31543617		2203	4300	6503	SO:0001819	synonymous_variant	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31543617C>T	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.99C>T	6.37:g.31543617C>T			Somatic				TNF_uc003nuj.3_5'Flank	p.L33L	NM_000594	NP_000585	WXS	Illumina GAIIx	Phase_I	P01375	TNFA_HUMAN			0	268	+		Ovarian(999;0.00556)	33					O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	c.99C>T	CCDS4702.1																																																																																				0.647	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			6	103	0	0	0	1	0	6	103					T	31543617	C	T	31543617	2	4	137	1	0	0	0	0	0	0	0	1	16268	813	29	2		2	TNF	6	31543617	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		31543617	139571450	26	2334											
FGD2	221472	broad.mit.edu	37	6	36995226	36995226	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:36995226G>C	ENST00000274963.8	+	15	1798	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	543					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCCACGCCTGACCAGAGCCT	0.617																																						uc010jwp.1																			0		p.P542L(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1627-1629)Gac>Cac		Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.							107	109	108					6																	36995226		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr6:36995226G>C	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1627G>C	6.37:g.36995226G>C	ENSP00000274963:p.Asp543His		Somatic				FGD2_uc003ong.2_Missense_Mutation_p.D265H|FGD2_uc011dtv.1_Missense_Mutation_p.D171H|FGD2_uc003onj.1_Missense_Mutation_p.D120H	p.D543H	NM_173558	NP_775829	WXS	Illumina GAIIx	Phase_I	Q7Z6J4	FGD2_HUMAN			14	1798	+			543					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1627G>C	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029431	0.19512	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.59224	0.28	5.71	4.83	0.62350	.	0.655739	0.13409	N	0.389981	T	0.40347	0.1113	N	0.22421	0.69	0.09310	N	1	P;P	0.44478	0.641;0.836	B;P	0.52217	0.143;0.693	T	0.36625	-0.9740	10	0.59425	D	0.04	-9.4731	10.988	0.47532	0.0715:0.1318:0.7967:0.0	.	543;120	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	H	543;171	ENSP00000274963:D543H	ENSP00000274963:D543H	D	+	1	0	FGD2	37103204	1.000000	0.71417	0.007000	0.13788	0.113000	0.19764	6.437000	0.73421	1.392000	0.46585	0.655000	0.94253	GAC		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		18	177	0	0	0	1	0	18	177					C	36995226	G	C	36995226	3	2	137	1	0	0	0	0	1	0	0	0	5833	1290	45	4	1685	4	FGD2	6	36995226	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	5451609	36995226	134119841	27	2335											
PPP2R5D	5528	broad.mit.edu	37	6	42976211	42976211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:42976211C>T	ENST00000485511.1	+	9	1203	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.Q310*|PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.Q334*|PPP2R5D_ENST00000461010.1_Nonsense_Mutation_p.Q236*	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	342					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)			CTACCACCCTCAGGTGAGCTG	0.532																																					Melanoma(63;587 1613 29742 31770)	uc003oth.3																			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.(1024-1026)Cag>Tag		Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.							85	81	83					6																	42976211		2203	4300	6503	SO:0001587	stop_gained	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42976211C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1024C>T	6.37:g.42976211C>T	ENSP00000417963:p.Gln342*		Somatic				MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Nonsense_Mutation_p.Q236*|PPP2R5D_uc011dva.2_Nonsense_Mutation_p.Q191*|PPP2R5D_uc003oti.3_Nonsense_Mutation_p.Q191*|PPP2R5D_uc021yzq.1_Nonsense_Mutation_p.Q310*|PPP2R5D_uc003otj.3_Nonsense_Mutation_p.Q191*	p.Q342*	NM_006245	NP_006236	WXS	Illumina GAIIx	Phase_I	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)		8	1110	+			342					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Nonsense_Mutation	SNP	ENST00000485511.1	37	c.1024C>T	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.698159|5.698159	0.96802|0.96802	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77935	.|0.4205	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74222	.|-0.3735	.|3	0.87932|.	D|.	0|.	-28.0892|-28.0892	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	342;310;334;342;236|261	.|.	ENSP00000377669:Q310X|.	Q|S	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43084189|43084189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.085000|6.085000	0.71343|0.71343	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.532	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		5	54	0	0	0	1	0	5	54					T	42976211	C	T	42976211	4	4	137	1	0	0	0	0	0	1	0	0	12395	827	29	2	1058	2	PPP2R5D	6	42976211	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	5980985	42976211	128138856	28	2336											
KCNQ5	56479	broad.mit.edu	37	6	73834209	73834209	+	Splice_Site	SNP	G	G	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:73834209G>T	ENST00000370398.1	+	9	1330	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000370392.1_Splice_Site_p.K407N|KCNQ5_ENST00000355194.4_Splice_Site_p.K407N|KCNQ5_ENST00000414165.2_Splice_Site_p.K407N|KCNQ5_ENST00000342056.2_Splice_Site_p.K407N|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000402622.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	407					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCACCTGAAGGAAAGAACAAG	0.383																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.e9-1		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							175	159	165					6																	73834209		2203	4300	6503	SO:0001630	splice_region_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73834209G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1221-1G>T	6.37:g.73834209G>T			Somatic				KCNQ5_uc003pgj.4_Splice_Site_p.K407_splice|KCNQ5_uc011dyi.2_Intron|KCNQ5_uc010kat.3_Intron|KCNQ5_uc003pgk.3_Splice_Site_p.K407_splice|KCNQ5_uc011dyj.2_Splice_Site_p.K407_splice|KCNQ5_uc011dyk.2_Intron	p.K407_splice	NM_001160133	NP_001153605	WXS	Illumina GAIIx	Phase_I	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	9	1568	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	407					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Splice_Site	SNP	ENST00000370398.1	37	c.1221_splice	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485724	0.44147	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000414165	D;D;D;D;D	0.99382	-5.75;-5.72;-5.72;-5.65;-5.8	5.44	5.44	0.79542	.	3.917520	0.00447	N	0.000083	D	0.97711	0.9249	L	0.58101	1.795	0.41956	D	0.990687	B;B;B;B	0.24768	0.111;0.0;0.0;0.007	B;B;B;B	0.24541	0.054;0.002;0.001;0.011	T	0.82460	-0.0446	9	.	.	.	.	13.3755	0.60736	0.0822:0.0:0.9178:0.0	.	407;407;407;407	F5GZV0;A6PVT6;Q9NR82;Q9NR82-4	.;.;KCNQ5_HUMAN;.	N	407	ENSP00000345055:K407N;ENSP00000347326:K407N;ENSP00000359425:K407N;ENSP00000359419:K407N;ENSP00000409861:K407N	.	K	+	3	2	KCNQ5	73890930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.492000	0.66893	2.709000	0.92574	0.655000	0.94253	AAG		0.383	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	Missense_Mutation	4	50	0	0	0	1	0	4	50					T	73834209	G	T	73834209	5	4	137	1	0	0	0	0	0	0	1	0	8086	1188	41	4	1255	4	KCNQ5	6	73834209	Splice_Site	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	30857998	73834209	97280858	29	2337											
TIAM2	26230	broad.mit.edu	37	6	155450556	155450556	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:155450556C>T	ENST00000461783.3	+	6	1472	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	TIAM2_ENST00000529824.2_Missense_Mutation_p.H67Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H67Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.H67Y|TIAM2_ENST00000456144.1_Missense_Mutation_p.H67Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	67					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGCCTTTCTCACTTTAAGAG	0.547																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(199-201)Cac>Tac		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							76	70	72					6																	155450556		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	g.chr6:155450556C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.199C>T	6.37:g.155450556C>T	ENSP00000437188:p.His67Tyr		Somatic				TIAM2_uc003qqe.3_Missense_Mutation_p.H67Y	p.H67Y	NM_012454	NP_036586	WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	5	1472	+		Ovarian(120;0.196)	67					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.199C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312100	0.81358	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000538270;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.49;3.54;3.55;3.49	5.36	5.36	0.76844	.	0.108147	0.64402	D	0.000004	T	0.10981	0.0268	M	0.68317	2.08	0.80722	D	1	D	0.60575	0.988	P	0.52343	0.696	T	0.00883	-1.1528	10	0.72032	D	0.01	.	17.27	0.87098	0.0:1.0:0.0:0.0	.	67	Q8IVF5	TIAM2_HUMAN	Y	67;313;67;67;67;67;67;67;67	ENSP00000437188:H67Y;ENSP00000434901:H67Y;ENSP00000407746:H67Y;ENSP00000327315:H67Y;ENSP00000353528:H67Y;ENSP00000433348:H67Y	ENSP00000327315:H67Y	H	+	1	0	TIAM2	155492248	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.291000	0.65667	2.509000	0.84616	0.561000	0.74099	CAC		0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	32	0	0	0	1	0	5	32					T	155450556	C	T	155450556	3	4	137	1	0	0	0	0	1	0	0	0	15888	826	29	2	201	2	TIAM2	6	155450556	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	81616347	155450556	15664511	30	2338											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		2	50	0	0	0	1	0	2	50					T	140453136	A	T	140453136	3	4	137	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DO-A2HM-01B-11D-A22D-08		140453136	18685527	31	2339											
LINGO2	158038	broad.mit.edu	37	9	27949733	27949733	+	Missense_Mutation	SNP	C	C	T	rs371555423		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:27949733C>T	ENST00000379992.2	-	6	1386	c.937G>A	c.(937-939)Gag>Aag	p.E313K	LINGO2_ENST00000308675.3_Missense_Mutation_p.E313K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	313						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAGTGAGGCTCAATGGTGCGA	0.542																																						uc010mjf.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(937-939)Gag>Aag		Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.		C	LYS/GLU	0,4406		0,0,2203	92	95	94		937	5.9	1.0	9		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	LINGO2	NM_152570.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	313/607	27949733	1,13005	2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949733C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.937G>A	9.37:g.27949733C>T	ENSP00000369328:p.Glu313Lys		Somatic				LINGO2_uc003zqv.1_Missense_Mutation_p.E313K|LINGO2_uc003zqu.1_Missense_Mutation_p.E313K|LINGO2_uc022bfc.1_Missense_Mutation_p.E313K	p.E313K	NM_152570	NP_689783	WXS	Illumina GAIIx	Phase_I	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1471	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	313					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.937G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758453	0.69763	0.0	1.16E-4	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58797	0.31;0.31	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	L	0.48877	1.53	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.66011	-0.6029	9	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	313	Q7L985	LIGO2_HUMAN	K	313	ENSP00000369328:E313K;ENSP00000310126:E313K	.	E	-	1	0	LINGO2	27939733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.824000	0.97209	0.655000	0.94253	GAG		0.542	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		5	69	0	0	0	1	0	5	69					T	27949733	C	T	27949733	3	4	137	1	0	0	0	0	1	0	0	0	8815	835	29	2	887	2	LINGO2	9	27949733	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		27949733	113263698	32	2340											
TMEM2	23670	broad.mit.edu	37	9	74300217	74300217	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:74300217C>G	ENST00000377044.4	-	24	4587	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q	TMEM2_ENST00000377066.5_Missense_Mutation_p.E1287Q|TMEM2_ENST00000396272.3_Missense_Mutation_p.E343Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1350					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)		ATGAATTGTTCAAGCACCCCA	0.458																																						uc011lsa.1																			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.(4048-4050)Gaa>Caa		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							115	105	108					9																	74300217		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74300217C>G		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.4048G>C	9.37:g.74300217C>G	ENSP00000366243:p.Glu1350Gln		Somatic				TMEM2_uc011lrz.1_Missense_Mutation_p.E343Q|TMEM2_uc010mos.2_Missense_Mutation_p.E1287Q|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.E184Q	p.E1350Q	NM_013390	NP_037522	WXS	Illumina GAIIx	Phase_I	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	23	4588	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1350					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.4048G>C	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452163	0.63290	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.74737	-0.87;-0.78;2.4	5.53	5.53	0.82687	.	0.161807	0.53938	D	0.000053	T	0.75627	0.3875	M	0.62723	1.935	0.58432	D	0.999996	P;P	0.45212	0.853;0.849	B;B	0.43623	0.376;0.425	T	0.73975	-0.3813	10	0.29301	T	0.29	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	1350;1287	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Q	1350;1287;343	ENSP00000366243:E1350Q;ENSP00000366266:E1287Q;ENSP00000379569:E343Q	ENSP00000366243:E1350Q	E	-	1	0	TMEM2	73490037	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	5.630000	0.67805	2.601000	0.87937	0.555000	0.69702	GAA		0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		7	84	0	0	0	1	0	7	84					G	74300217	C	G	74300217	3	3	137	1	0	0	0	0	1	0	0	0	16118	835	29	4	107	4	TMEM2	9	74300217	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	46350484	74300217	66913214	33	2341											
DNAJC25	548645	broad.mit.edu	37	9	114393996	114393996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:114393996delG	ENST00000313525.3	+	1	365	c.309delG	c.(307-309)ctgfs	p.L103fs	DNAJC25-GNG10_ENST00000374294.3_Frame_Shift_Del_p.L103fs|LRRC37A5P_ENST00000374304.1_RNA|DNAJC25_ENST00000556107.1_Frame_Shift_Del_p.L103fs	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	103	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						CTTTCCTGCTGGTGGCAACCG	0.741																																						uc004bfl.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						c.(307-309)ctgfs		Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.							2	2	2					9																	114393996		1478	3139	4617	SO:0001589	frameshift_variant	548645				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr9:114393996delG		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"Heat shock proteins / DNAJ (HSP40)"	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.309delG	9.37:g.114393996delG	ENSP00000320650:p.Leu103fs		Somatic				DNAJC25_uc004bfn.3_Frame_Shift_Del_p.L103fs|DNAJC25_uc004bfm.3_5'UTR	p.L103fs	NM_001015882	NP_001015882	WXS	Illumina GAIIx	Phase_I	Q9H1X3	DJC25_HUMAN			0	365	+			103			J.		Q5QTD8|Q96BN9	Frame_Shift_Del	DEL	ENST00000313525.3	37	c.309delG	CCDS43862.1																																																																																				0.741	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		2	4						2	4	---	---	---	---	-	114393996	G	-	114393996	7	5	137	1	0	1	0	1	0	0	0	0	4643	1335	47	0	311	0	DNAJC25	9	114393996	Frame_Shift_Del	DEL	G	TCGA-DO-A2HM-01B-11D-A22D-08	40093779	114393996	26819435	34	2342											
KLF6	1316	broad.mit.edu	37	10	3824138	3824138	+	Missense_Mutation	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:3824138T>C	ENST00000497571.1	-	2	631	c.371A>G	c.(370-372)aAg>aGg	p.K124R	KLF6_ENST00000469435.1_Missense_Mutation_p.K124R|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.K124R	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	124					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K124R(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGAGGTAAACTTGGCCGTGGG	0.532											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.3																			1	Substitution - Missense(1)	p.K124R(2)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(370-372)aAg>aGg		Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.							119	127	124					10																	3824138		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824138T>C	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.371A>G	10.37:g.3824138T>C	ENSP00000419923:p.Lys124Arg		Somatic	OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.2_Missense_Mutation_p.K124R|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.K124R|KLF6_uc001ihb.2_Missense_Mutation_p.K124R	p.K124R	NM_001300	NP_001291	WXS	Illumina GAIIx	Phase_I	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	1	638	-			124					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.371A>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.768949	0.31320	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.52754	3.4;0.65;0.88	4.99	4.99	0.66335	.	0.345155	0.35040	N	0.003493	T	0.38799	0.1054	L	0.36672	1.1	0.30195	N	0.799166	P;P;B;P	0.44429	0.454;0.835;0.11;0.514	B;P;B;B	0.44990	0.105;0.466;0.033;0.151	T	0.31724	-0.9933	10	0.20519	T	0.43	.	8.5654	0.33536	0.0:0.0861:0.0:0.9139	.	124;124;124;124	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	R	124	ENSP00000419923:K124R;ENSP00000445301:K124R;ENSP00000419079:K124R	ENSP00000419079:K124R	K	-	2	0	KLF6	3814138	1.000000	0.71417	0.990000	0.47175	0.735000	0.41995	2.407000	0.44565	1.873000	0.54277	0.459000	0.35465	AAG		0.532	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			18	152	0	0	0	1	0	18	152					C	3824138	T	C	3824138	3	2	137	1	0	0	0	0	1	0	0	0	8350	1609	56	3	492	3	KLF6	10	3824138	Missense_Mutation	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		3824138	131710609	35	2343											
GPR158	57512	broad.mit.edu	37	10	25464395	25464395	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:25464395C>A	ENST00000376351.3	+	1	405	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	16					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTGCTTGCTCAGCTGGGATT	0.637																																						uc001isj.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(46-48)Cag>Aag		Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.							35	41	39					10																	25464395		2203	4293	6496	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464395C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.46C>A	10.37:g.25464395C>A	ENSP00000365529:p.Gln16Lys		Somatic				LOC100128811_uc010qde.1_Intron	p.Q16K	NM_020752	NP_065803	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			0	106	+			16					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.46C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176392	0.38413	.	.	ENSG00000151025	ENST00000376351	T	0.59083	0.29	4.72	4.72	0.59763	.	1.302630	0.05575	N	0.571782	T	0.40645	0.1125	N	0.14661	0.345	0.19575	N	0.999968	B	0.19817	0.039	B	0.16722	0.016	T	0.15065	-1.0450	10	0.07813	T	0.8	.	11.0535	0.47905	0.0:0.9137:0.0:0.0863	.	16	Q5T848	GP158_HUMAN	K	16	ENSP00000365529:Q16K	ENSP00000365529:Q16K	Q	+	1	0	GPR158	25504401	0.641000	0.27251	0.139000	0.22197	0.942000	0.58702	3.736000	0.55052	2.462000	0.83206	0.467000	0.42956	CAG		0.637	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		6	92	0	0	0	1	0	6	92					A	25464395	C	A	25464395	3	1	137	1	0	0	0	0	1	0	0	0	6663	827	29	4	48	4	GPR158	10	25464395	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	21640257	25464395	110070352	36	2344											
CCNJ	54619	broad.mit.edu	37	10	97817702	97817702	+	Nonsense_Mutation	SNP	C	C	T	rs149060787		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:97817702C>T	ENST00000265992.5	+	6	1190	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	CCNJ_ENST00000403870.3_Nonsense_Mutation_p.Q274*|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000534974.1_Nonsense_Mutation_p.Q275*|CCNJ_ENST00000465148.2_Nonsense_Mutation_p.Q286*|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	275						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGTTCACTTTCAGCAACCTCA	0.502																																						uc010qoq.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(856-858)Cag>Tag		Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.							246	206	219					10																	97817702		2203	4300	6503	SO:0001587	stop_gained	54619					nucleus		g.chr10:97817702C>T	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.823C>T	10.37:g.97817702C>T	ENSP00000265992:p.Gln275*		Somatic				LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Nonsense_Mutation_p.Q275*|CCNJ_uc001kln.3_Nonsense_Mutation_p.Q274*	p.Q286*	NM_001134375	NP_001127847	WXS	Illumina GAIIx	Phase_I	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	5	1215	+			275					B7Z4E7|Q86XL1|Q9NV69	Nonsense_Mutation	SNP	ENST00000265992.5	37	c.856C>T	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	39	7.689009	0.98434	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	.	.	.	5.5	5.5	0.81552	.	0.177671	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.7644	18.5443	0.91040	0.0:1.0:0.0:0.0	.	.	.	.	X	275;286;274;275	.	ENSP00000265992:Q275X	Q	+	1	0	CCNJ	97807692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.220000	0.65267	2.744000	0.94065	0.655000	0.94253	CAG		0.502	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		14	159	0	0	0	1	0	14	159					T	97817702	C	T	97817702	4	4	137	1	0	0	0	0	0	1	0	0	2928	827	29	2	874	2	CCNJ	10	97817702	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	72353307	97817702	37717045	37	2345											
KCNIP2	30819	broad.mit.edu	37	10	103587154	103587154	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:103587154C>T	ENST00000356640.2	-	10	1044	c.769G>A	c.(769-771)Gag>Aag	p.E257K	KCNIP2_ENST00000353068.3_Missense_Mutation_p.E214K|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E207K|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E171K|KCNIP2_ENST00000358038.3_Missense_Mutation_p.E239K|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E212K|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E272K	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	257	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with KCND2. {ECO:0000250}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGATGTTCTCATCCTGTGGC	0.527																																						uc001kuc.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(814-816)Gag>Aag		Homo sapiens Kv channel interacting protein 2 (KCNIP2), transcript variant 1, mRNA.							135	120	125					10																	103587154		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|ER retention sequence binding|calcium ion binding|identical protein binding|protein N-terminus binding	g.chr10:103587154C>T		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.769G>A	10.37:g.103587154C>T	ENSP00000349055:p.Glu257Lys		Somatic				LOC100289509_uc021pxh.1_Intron|KCNIP2_uc010qqg.2_Missense_Mutation_p.E201K|KCNIP2_uc001ktx.3_Non-coding_Transcript|KCNIP2_uc001kty.3_Missense_Mutation_p.E155K|KCNIP2_uc001ktz.3_Missense_Mutation_p.E212K|KCNIP2_uc009xwv.3_Missense_Mutation_p.E203K|KCNIP2_uc001kub.3_Missense_Mutation_p.E257K|KCNIP2_uc001kue.3_Missense_Mutation_p.E239K|KCNIP2_uc001kud.3_Missense_Mutation_p.E214K|KCNIP2_uc001kuf.3_Missense_Mutation_p.E207K|KCNIP2_uc001kua.3_Missense_Mutation_p.E188K|KCNIP2_uc009xwu.3_Missense_Mutation_p.E206K	p.E272K	NM_014591	NP_055406	WXS	Illumina GAIIx	Phase_I	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	9	1166	-		Colorectal(252;0.122)	257					A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.814G>A	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320215	0.60634	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;0.99;-0.25;-0.25;-0.25	4.97	4.97	0.65823	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	L	0.55990	1.75	0.80722	D	1	P;D;P;D;P;D;D;P;D;B;B	0.54964	0.644;0.963;0.937;0.963;0.927;0.963;0.962;0.51;0.969;0.267;0.095	P;P;P;P;D;P;D;B;P;B;B	0.68192	0.725;0.831;0.682;0.831;0.922;0.753;0.956;0.129;0.867;0.078;0.298	T	0.78580	-0.2149	10	0.52906	T	0.07	.	18.7755	0.91910	0.0:1.0:0.0:0.0	.	201;203;206;207;239;214;272;257;188;212;164	B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	K	212;239;188;239;257;171;164;214;272;207	ENSP00000239118:E212K;ENSP00000350733:E239K;ENSP00000349055:E257K;ENSP00000359063:E171K;ENSP00000411679:E164K;ENSP00000341624:E214K;ENSP00000420040:E272K;ENSP00000344169:E207K	ENSP00000344169:E207K	E	-	1	0	KCNIP2	103577144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.609000	0.82925	2.746000	0.94184	0.561000	0.74099	GAG		0.527	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			10	176	0	0	0	1	0	10	176					T	103587154	C	T	103587154	3	4	137	1	0	0	0	0	1	0	0	0	8040	835	29	2	47	2	KCNIP2	10	103587154	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	5769452	103587154	31947593	38	2346											
NLRP14	338323	broad.mit.edu	37	11	7064628	7064628	+	Silent	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:7064628C>G	ENST00000299481.4	+	4	1717	c.1371C>G	c.(1369-1371)gtC>gtG	p.V457V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	457	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)		AATCTGATGTCTCTAGTTTTA	0.408																																						uc001mfb.1																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1369-1371)gtC>gtG		Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.							116	120	119					11																	7064628		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064628C>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1371C>G	11.37:g.7064628C>G			Somatic					p.V457V	NM_176822	NP_789792	WXS	Illumina GAIIx	Phase_I	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	3	1694	+			457			NACHT.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.1371C>G	CCDS7776.1																																																																																				0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		4	84	0	0	0	1	0	4	84					G	7064628	C	G	7064628	2	3	137	1	0	0	0	0	0	0	0	1	10476	900	32	4		4	NLRP14	11	7064628	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		7064628	127941888	39	2347											
RAG1	5896	broad.mit.edu	37	11	36597776	36597776	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:36597776C>T	ENST00000299440.5	+	2	3034	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	974					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAGGCGCTTCCGGAAAATGA	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.4																			0		p.R973S(1)|p.R973C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2920-2922)ttC>ttT		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							94	100	98					11																	36597776		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597776C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2922C>T	11.37:g.36597776C>T			Somatic				RAG1_uc001mwt.3_Intron|RAG1_uc021qgb.1_Silent_p.F974F	p.F974F	NM_000448	NP_000439	WXS	Illumina GAIIx	Phase_I	P15918	RAG1_HUMAN			1	3046	+	all_lung(20;0.226)	all_hematologic(20;0.107)	974					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2922C>T	CCDS7902.1																																																																																				0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	86	0	0	0	1	0	8	86					T	36597776	C	T	36597776	2	4	137	1	0	0	0	0	0	0	0	1	13003	854	30	2		2	RAG1	11	36597776	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29533148	36597776	98408740	40	2348											
PACSIN3	29763	broad.mit.edu	37	11	47200728	47200728	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:47200728C>A	ENST00000539589.1	-	8	1224	c.882G>T	c.(880-882)atG>atT	p.M294I	ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.M294I|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	294	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GTGGCCAGTTCATGGCCATGC	0.627																																						uc001ndw.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(880-882)atG>atT		Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.							117	122	120					11																	47200728		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200728C>A	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.882G>T	11.37:g.47200728C>A	ENSP00000440945:p.Met294Ile		Somatic				ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Missense_Mutation_p.M294I|PACSIN3_uc001ndx.3_Missense_Mutation_p.M294I	p.M294I	NM_001184975	NP_057307	WXS	Illumina GAIIx	Phase_I	Q9UKS6	PACN3_HUMAN			7	1225	-			294					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.882G>T	CCDS31481.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.8|26.8|26.8	4.767618|4.767618|4.767618	0.90020|0.90020|0.90020	.|.|.	.|.|.	ENSG00000165912|ENSG00000165912|ENSG00000165912	ENST00000533686|ENST00000298838;ENST00000539589;ENST00000528462|ENST00000415232	.|T;T;T|.	.|0.26957|.	.|1.7;1.7;1.7|.	5.24|5.24|5.24	5.24|5.24|5.24	0.73138|0.73138|0.73138	.|.|.	.|0.038691|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.78000|.	.|0.4215|.	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.50528|.	.|0.936|.	.|P|.	.|0.59424|.	.|0.857|.	.|T|.	.|0.78054|.	.|-0.2354|.	.|10|.	.|0.10377|.	.|T|.	.|0.69|.	-23.6025|-23.6025|-23.6025	19.1833|19.1833|19.1833	0.93632|0.93632|0.93632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|294|.	.|Q9UKS6|.	.|PACN3_HUMAN|.	X|I|L	17|294|293	.|ENSP00000298838:M294I;ENSP00000440945:M294I;ENSP00000437252:M294I|.	.|ENSP00000298838:M294I|.	E|M|X	-|-|-	1|3|2	0|0|2	PACSIN3|PACSIN3|PACSIN3	47157304|47157304|47157304	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.606000|2.606000|2.606000	0.88127|0.88127|0.88127	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|ATG|TGA		0.627	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		26	265	0	0	0	1	0	26	265					A	47200728	C	A	47200728	3	1	137	1	0	0	0	0	1	0	0	0	11376	826	29	4	408	4	PACSIN3	11	47200728	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	10602952	47200728	87805788	41	2349											
CNIH2	254263	broad.mit.edu	37	11	66050518	66050518	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:66050518G>C	ENST00000311445.6	+	4	469	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	CNIH2_ENST00000528852.1_Missense_Mutation_p.E71Q|CNIH2_ENST00000530519.1_3'UTR|YIF1A_ENST00000526497.1_5'Flank	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	71					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGTGGTCCCAGAATACTCCAT	0.597											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ohi.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(211-213)Gaa>Caa		Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA.							111	110	111					11																	66050518		2200	4295	6495	SO:0001583	missense	254263				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66050518G>C	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"cornichon homolog 2 (Drosophila)"			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.211G>C	11.37:g.66050518G>C	ENSP00000310003:p.Glu71Gln		Somatic	OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	CNIH2_uc009yrb.1_Non-coding_Transcript	p.E71Q	NM_182553	NP_872359	WXS	Illumina GAIIx	Phase_I	Q6PI25	CNIH2_HUMAN			3	443	+			71						Missense_Mutation	SNP	ENST00000311445.6	37	c.211G>C	CCDS8131.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441507	0.83993	.	.	ENSG00000174871	ENST00000528852;ENST00000311445	T;T	0.56611	0.45;0.45	5.17	5.17	0.71159	.	0.107176	0.64402	D	0.000008	T	0.77903	0.4200	M	0.89658	3.05	0.80722	D	1	D;D	0.61080	0.983;0.989	D;D	0.71184	0.972;0.92	T	0.82894	-0.0231	10	0.87932	D	0	-21.5679	17.8166	0.88637	0.0:0.0:1.0:0.0	.	71;71	Q6PI25;E9PS15	CNIH2_HUMAN;.	Q	71	ENSP00000432177:E71Q;ENSP00000310003:E71Q	ENSP00000310003:E71Q	E	+	1	0	CNIH2	65807094	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	5.248000	0.65421	2.574000	0.86865	0.563000	0.77884	GAA		0.597	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		10	157	0	0	0	1	0	10	157					C	66050518	G	C	66050518	3	2	137	1	0	0	0	0	1	0	0	0	3603	943	33	4	225	4	CNIH2	11	66050518	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	18849790	66050518	68955998	42	2350											
ODZ4	26011	broad.mit.edu	37	11	78437190	78437190	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:78437190C>T	ENST00000278550.7	-	23	3946	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1162					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCGTCAATTTCATAGCCCTGC	0.443																																						uc001ozl.4																			0				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3484-3486)Gaa>Aaa		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							310	300	303					11																	78437190		1930	4132	6062	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78437190C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3484G>A	11.37:g.78437190C>T	ENSP00000278550:p.Glu1162Lys		Somatic					p.E1162K	NM_001098816	NP_001092286	WXS	Illumina GAIIx	Phase_I	Q6N022	TEN4_HUMAN			22	3947	-			1162					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3484G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661972	0.96734	.	.	ENSG00000149256	ENST00000278550	D	0.90004	-2.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.70842	2.15	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.93123	0.6526	9	.	.	.	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1162	Q6N022	TEN4_HUMAN	K	1162	ENSP00000278550:E1162K	.	E	-	1	0	ODZ4	78114838	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.932000	0.70121	2.760000	0.94817	0.655000	0.94253	GAA		0.443	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			26	234	0	0	0	1	0	26	234					T	78437190	C	T	78437190	3	4	137	1	0	0	0	0	1	0	0	0	10837	835	29	2	4873	2	ODZ4	11	78437190	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	12386672	78437190	56569326	43	2351											
DDX25	29118	broad.mit.edu	37	11	125780286	125780286	+	Silent	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780286T>C	ENST00000263576.6	+	7	690	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TACTTATGAATTGGCTCTGCA	0.448																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(535-537)Ttg>Ctg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							201	189	193					11																	125780286		1933	4152	6085	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125780286T>C	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.535T>C	11.37:g.125780286T>C			Somatic				DDX25_uc010sbk.2_Silent_p.L179L	p.L179L	NM_013264	NP_037396	WXS	Illumina GAIIx	Phase_I	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	6	676	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	179			Helicase ATP-binding.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.535T>C	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361799	0.24684	.	.	ENSG00000109832	ENST00000530129	.	.	.	5.82	-7.42	0.01388	.	.	.	.	.	T	0.72439	0.3460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74636	-0.3599	4	.	.	.	-8.8261	21.2368	0.99949	0.0:0.7771:0.0:0.2229	.	.	.	.	T	190	.	.	I	+	2	0	DDX25	125285496	0.976000	0.34144	0.490000	0.27465	0.946000	0.59487	0.238000	0.18004	-1.383000	0.02106	0.533000	0.62120	ATT		0.448	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		10	103	0	0	0	1	0	10	103					C	125780286	T	C	125780286	2	2	137	1	0	0	0	0	0	0	0	1	4352	1490	52	3		3	DDX25	11	125780286	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08	47343096	125780286	9226230	44	2352			1	9		2	2	33	N	T_G	8.992793e-05
DDX25	29118	broad.mit.edu	37	11	125780318	125780318	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780318G>A	ENST00000263576.6	+	7	722	c.567G>A	c.(565-567)caG>caA	p.Q189Q	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	189	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGGTTGAGCAGATGGGAAAAT	0.478																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(565-567)caG>caA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							237	224	228					11																	125780318		1946	4156	6102	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125780318G>A	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"DEAD-boxes"	18698	protein-coding gene	gene with protein product	"gonadotropin-regulated testicular RNA helicase"	607663	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.567G>A	11.37:g.125780318G>A			Somatic				DDX25_uc010sbk.2_Silent_p.Q189Q	p.Q189Q	NM_013264	NP_037396	WXS	Illumina GAIIx	Phase_I	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	6	708	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	189			Helicase ATP-binding.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.567G>A	CCDS44766.1																																																																																				0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		10	118	0	0	0	1	0	10	118					A	125780318	G	A	125780318	2	1	137	1	0	0	0	0	0	0	0	1	4352	933	33	2		2	DDX25	11	125780318	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	32	125780318	9226198	45	2353			1	9		2	2	33	N	T_G	8.992793e-05
CSDA	8531	broad.mit.edu	37	12	10862690	10862690	+	Silent	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:10862690T>C	ENST00000228251.4	-	6	797	c.597A>G	c.(595-597)gaA>gaG	p.E199E	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	199					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TGCCGCTCCCTTCCTCCTCCT	0.537																																						uc001qyt.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19						c.(595-597)gaA>gaG		Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.							17	18	18					12																	10862690		2203	4300	6503	SO:0001819	synonymous_variant	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10862690T>C	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.597A>G	12.37:g.10862690T>C			Somatic				CSDA_uc001qyu.3_Intron	p.E199E	NM_003651	NP_003642	WXS	Illumina GAIIx	Phase_I	P16989	DBPA_HUMAN			5	840	-	Glioma(1;0.155)		199					B2RBW6|Q14121|Q969N6|Q96B76	Silent	SNP	ENST00000228251.4	37	c.597A>G	CCDS8630.1																																																																																				0.537	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		2	20	0	0	0	1	0	2	20					C	10862690	T	C	10862690	2	2	137	1	0	0	0	0	0	0	0	1	3927	1606	56	3		3	CSDA	12	10862690	Silent	SNP	T	TCGA-DO-A2HM-01B-11D-A22D-08		10862690	122989205	46	2354											
BCL2L14	79370	broad.mit.edu	37	12	12240312	12240312	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:12240312C>G	ENST00000308721.5	+	3	805	c.599C>G	c.(598-600)tCt>tGt	p.S200C	BCL2L14_ENST00000589718.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000396367.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000266434.4_Missense_Mutation_p.S200C|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S233C	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	200					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCTTCAAGTTCTAAGAAAGGT	0.532																																						uc001rac.3																			0				large_intestine(1)|lung(2)|skin(3)	6						c.(598-600)tCt>tGt		Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.							111	113	112					12																	12240312		2203	4300	6503	SO:0001583	missense	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12240312C>G	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.599C>G	12.37:g.12240312C>G	ENSP00000309132:p.Ser200Cys		Somatic				ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.S200C|BCL2L14_uc001rae.3_Missense_Mutation_p.S200C	p.S200C	NM_138723	NP_620049	WXS	Illumina GAIIx	Phase_I	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	800	+		Prostate(47;0.0872)	200					A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	c.599C>G	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124865	0.56613	.	.	ENSG00000121380	ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	3.11	1.24	0.21308	.	0.704873	0.12042	N	0.504963	T	0.34454	0.0898	L	0.47716	1.5	0.09310	N	1	D;D	0.69078	0.997;0.992	P;P	0.54460	0.753;0.719	T	0.15263	-1.0443	10	0.87932	D	0	-0.045	4.4836	0.11780	0.0:0.6388:0.2308:0.1304	.	200;200	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	C	200	ENSP00000309132:S200C;ENSP00000266434:S200C;ENSP00000379655:S200C;ENSP00000379653:S200C	ENSP00000266434:S200C	S	+	2	0	BCL2L14	12131579	0.002000	0.14202	0.015000	0.15790	0.936000	0.57629	0.562000	0.23531	0.347000	0.23924	0.655000	0.94253	TCT		0.532	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		5	57	0	0	0	1	0	5	57					G	12240312	C	G	12240312	3	3	137	1	0	0	0	0	1	0	0	0	1372	913	32	4	605	4	BCL2L14	12	12240312	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1377622	12240312	121611583	47	2355											
GRIN2B	2904	broad.mit.edu	37	12	13906627	13906627	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:13906627C>T	ENST00000609686.1	-	3	843	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	212					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)	TTAGAATCTCCATCGTCCAGG	0.473																																						uc001rbt.2																			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.(634-636)Gga>Aga		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						141	140	141					12																	13906627		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	g.chr12:13906627C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.634G>A	12.37:g.13906627C>T	ENSP00000477455:p.Gly212Arg		Somatic					p.G212R	NM_000834	NP_000825	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	813	-			212					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.634G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226798	0.39399	.	.	ENSG00000150086	ENST00000279593	D	0.82803	-1.65	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	L	0.50333	1.59	0.58432	D	0.999999	P	0.47762	0.9	P	0.48704	0.587	T	0.82568	-0.0392	10	0.45353	T	0.12	.	12.272	0.54712	0.0:0.9225:0.0:0.0775	.	212	Q13224	NMDE2_HUMAN	R	212	ENSP00000279593:G212R	ENSP00000279593:G212R	G	-	1	0	GRIN2B	13797894	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.519000	0.60517	2.454000	0.82982	0.561000	0.74099	GGA		0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	78	0	0	0	1	0	6	78					T	13906627	C	T	13906627	3	4	137	1	0	0	0	0	1	0	0	0	6780	603	21	2	3864	2	GRIN2B	12	13906627	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1666315	13906627	119945268	48	2356											
ADAMTS20	80070	broad.mit.edu	37	12	43858536	43858536	+	Splice_Site	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:43858536C>T	ENST00000389420.3	-	10	1367		c.e10-1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAACCAGTACTGTAACAGTG	0.343																																						uc010skx.2																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.e10-1		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							61	57	59					12																	43858536		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858536C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1368-1G>A	12.37:g.43858536C>T			Somatic					p.D456_splice	NM_025003	NP_079279	WXS	Illumina GAIIx	Phase_I	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1368	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	456	D -> E (in Ref. 2; CAD56159/CAD56160).		Peptidase M12B.		A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37	c.1368_splice	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823836	0.32237	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6296	0.91355	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42144803	1.000000	0.71417	0.981000	0.43875	0.030000	0.12068	7.427000	0.80284	2.563000	0.86464	0.591000	0.81541	.		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	4	20	0	0	0	1	0	4	20					T	43858536	C	T	43858536	5	4	137	1	0	0	0	0	0	0	1	0	266	579	20	2	4484	2	ADAMTS20	12	43858536	Splice_Site	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	29951909	43858536	89993359	49	2357											
ARID2	196528	broad.mit.edu	37	12	46244997	46244997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:46244997C>T	ENST00000334344.6	+	15	3263	c.3091C>T	c.(3091-3093)Cag>Tag	p.Q1031*	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q882*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q641*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1031	Gln-rich.				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)		AGTACAAGTTCAGCAGCCCCA	0.502			"N, S, F"		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		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.(3091-3093)Cag>Tag		Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.							195	147	163					12																	46244997		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244997C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3091C>T	12.37:g.46244997C>T	ENSP00000335044:p.Gln1031*		Somatic				ARID2_uc001ror.3_Nonsense_Mutation_p.Q1031*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q487*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q658*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q365*	p.Q1031*	NM_152641	NP_689854	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	3091	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1031			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3091C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	40	8.435846	0.98810	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-3.6292	19.7188	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	1031;148;148;882;641	.	ENSP00000335044:Q1031X	Q	+	1	0	ARID2	44531264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.702000	0.61817	2.671000	0.90904	0.462000	0.41574	CAG		0.502	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	78	0	0	0	1	0	9	78					T	46244997	C	T	46244997	4	4	137	1	0	0	0	0	0	1	0	0	915	827	29	2	3149	2	ARID2	12	46244997	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	2386461	46244997	87606898	50	2358											
COPZ1	22818	broad.mit.edu	37	12	54741787	54741787	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:54741787G>A	ENST00000262061.2	+	7	436	c.399G>A	c.(397-399)gtG>gtA	p.V133V	COPZ1_ENST00000416254.2_Silent_p.V82V|COPZ1_ENST00000552218.1_Silent_p.V154V|COPZ1_ENST00000551779.1_Silent_p.V133V|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000549116.1_Silent_p.V75V|COPZ1_ENST00000455864.2_Silent_p.V110V|COPZ1_ENST00000552362.1_Silent_p.V133V|COPZ1_ENST00000548753.1_Silent_p.V45V|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000549043.1_Silent_p.V141V|COPZ1_ENST00000553231.1_Silent_p.V110V	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	133					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						TTTGCAGGGTGATCCTAGAGA	0.512																																						uc009znm.1																			0				kidney(1)|lung(4)	5						c.(421-423)gtG>gtA		Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA.							163	156	159					12																	54741787		2203	4300	6503	SO:0001819	synonymous_variant	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54741787G>A	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"coatomer protein complex, subunit zeta"	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.399G>A	12.37:g.54741787G>A			Somatic				COPZ1_uc001sfs.1_Silent_p.V133V|COPZ1_uc001sft.2_Silent_p.V82V|COPZ1_uc010sot.1_Silent_p.V110V	p.V141V	NM_016057	NP_057141	WXS	Illumina GAIIx	Phase_I	P61923	COPZ1_HUMAN			6	520	+			133					B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Silent	SNP	ENST00000262061.2	37	c.423G>A	CCDS8877.1																																																																																				0.512	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		8	69	0	0	0	1	0	8	69					A	54741787	G	A	54741787	2	1	137	1	0	0	0	0	0	0	0	1	3741	1277	45	2		2	COPZ1	12	54741787	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	8496790	54741787	79110108	51	2359											
CHST11	50515	broad.mit.edu	37	12	104851270	104851270	+	Silent	SNP	C	C	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:104851270C>A	ENST00000303694.5	+	1	520	c.81C>A	c.(79-81)atC>atA	p.I27I	CHST11_ENST00000549260.1_Silent_p.I27I|CHST11_ENST00000547956.1_Silent_p.I27I|CHST11_ENST00000546689.1_Silent_p.I27I	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	27					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GATCCTTTATCCTGGTCATCT	0.532																																						uc001tkz.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(79-81)atC>atA		Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.							218	202	208					12																	104851270		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	g.chr12:104851270C>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.81C>A	12.37:g.104851270C>A			Somatic				CHST11_uc001tky.3_Silent_p.I27I	p.I27I	NM_018413	NP_060883	WXS	Illumina GAIIx	Phase_I	Q9NPF2	CHSTB_HUMAN			0	579	+			27					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.81C>A	CCDS9099.1																																																																																				0.532	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	91	0	0	0	1	0	6	91					A	104851270	C	A	104851270	2	1	137	1	0	0	0	0	0	0	0	1	3399	845	30	4		4	CHST11	12	104851270	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	50109483	104851270	29000625	52	2360											
TPT1	7178	broad.mit.edu	37	13	45914212	45914212	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:45914212G>A	ENST00000530705.1	-	3	510	c.210C>T	c.(208-210)gtC>gtT	p.V70V	TPT1_ENST00000379056.1_Silent_p.V36V|TPT1-AS1_ENST00000520310.1_RNA|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000520622.1_RNA|TPT1_ENST00000379055.1_Silent_p.V36V|TPT1_ENST00000379060.4_Silent_p.V58V|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000309246.5_Silent_p.V70V|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1-AS1_ENST00000517509.1_RNA|TPT1_ENST00000529421.1_5'UTR|TPT1-AS1_ENST00000520590.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	70					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TGACAATATCGACACCAGTGA	0.458																																						uc001uzy.1																			0				lung(1)	1						c.(208-210)gtC>gtT		Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA.							145	123	130					13																	45914212		2203	4300	6503	SO:0001819	synonymous_variant	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45914212G>A	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.210C>T	13.37:g.45914212G>A			Somatic				TPT1_uc001uzz.1_Silent_p.V36V|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank	p.V70V	NM_003295	NP_003286	WXS	Illumina GAIIx	Phase_I	P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	2	303	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	70					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Silent	SNP	ENST00000530705.1	37	c.210C>T	CCDS9397.1																																																																																				0.458	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			7	76	0	0	0	1	0	7	76					A	45914212	G	A	45914212	2	1	137	1	0	0	0	0	0	0	0	1	16426	1045	37	1		1	TPT1	13	45914212	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		45914212	69255666	53	2361											
EBPL	84650	broad.mit.edu	37	13	50237326	50237326	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:50237326C>T	ENST00000242827.6	-	3	297	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378282.5_Intron|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378284.2_Missense_Mutation_p.E83K|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	83					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGCCATATTCTTTCCCTAAA	0.398																																					NSCLC(39;857 1083 36109 42364 51411)	uc001vdg.3																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(247-249)Gaa>Aaa		Homo sapiens emopamil binding protein-like (EBPL), mRNA.							118	105	110					13																	50237326		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50237326C>T	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.247G>A	13.37:g.50237326C>T	ENSP00000242827:p.Glu83Lys		Somatic				EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.E83K	p.E83K	NM_032565	NP_115954	WXS	Illumina GAIIx	Phase_I	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	2	310	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	83					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.247G>A	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097700	0.94197	.	.	ENSG00000123179	ENST00000242827	D	0.98381	-4.9	5.9	5.9	0.94986	.	0.106801	0.64402	D	0.000012	D	0.99227	0.9731	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99320	1.0906	9	.	.	.	-6.597	19.115	0.93334	0.0:1.0:0.0:0.0	.	83	Q9BY08	EBPL_HUMAN	K	83	ENSP00000242827:E83K	.	E	-	1	0	EBPL	49135327	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.769000	0.62300	2.821000	0.97095	0.555000	0.69702	GAA		0.398	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		6	81	0	0	0	1	0	6	81					T	50237326	C	T	50237326	3	4	137	1	0	0	0	0	1	0	0	0	4887	922	32	2	381	2	EBPL	13	50237326	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	4323114	50237326	64932552	54	2362											
FARP1	10160	broad.mit.edu	37	13	99063014	99063014	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:99063014C>T	ENST00000319562.6	+	15	1894	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	FARP1_ENST00000376586.2_Silent_p.F543F|FARP1_ENST00000595437.1_Silent_p.F543F	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	543	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCGTACTTCATAGCTAAGG	0.408																																						uc001vnh.3																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1627-1629)ttC>ttT		Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.							133	113	120					13																	99063014		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	g.chr13:99063014C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1629C>T	13.37:g.99063014C>T			Somatic				FARP1_uc001vnj.3_Silent_p.F543F	p.F543F	NM_005766	NP_005757	WXS	Illumina GAIIx	Phase_I	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		14	1868	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		543			DH.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1629C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	4.622	0.115587	0.08831	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.79	4.95	0.65309	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	.	11.8041	0.52143	0.0:0.8596:0.0:0.1404	.	.	.	.	L	72	.	.	S	+	2	0	FARP1	97861015	1.000000	0.71417	0.999000	0.59377	0.380000	0.30137	1.289000	0.33307	1.443000	0.47586	0.655000	0.94253	TCA		0.408	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		3	28	0	0	0	1	0	3	28					T	99063014	C	T	99063014	2	4	137	1	0	0	0	0	0	0	0	1	5676	825	29	2		2	FARP1	13	99063014	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	48825688	99063014	16106864	55	2363											
UBR1	197131	broad.mit.edu	37	15	43348594	43348594	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr15:43348594C>G	ENST00000290650.4	-	11	1307	c.1229G>C	c.(1228-1230)aGa>aCa	p.R410T	UBR1_ENST00000382177.2_Missense_Mutation_p.R410T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	410					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAGATACTTCTGTCATGATC	0.284																																						uc001zqq.3																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1228-1230)aGa>aCa		Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.							116	120	119					15																	43348594		2203	4298	6501	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43348594C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1229G>C	15.37:g.43348594C>G	ENSP00000290650:p.Arg410Thr		Somatic				UBR1_uc010udk.1_Missense_Mutation_p.R410T	p.R410T	NM_174916	NP_777576	WXS	Illumina GAIIx	Phase_I	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	10	1295	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	410					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1229G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459484	0.84317	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.70749	0.32;-0.51	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.66939	2.045	0.58432	D	0.999993	P;D	0.59767	0.749;0.986	B;P	0.53266	0.412;0.722	T	0.71424	-0.4597	10	0.22706	T	0.39	-16.4846	13.1215	0.59329	0.0:0.9237:0.0:0.0763	.	410;410	B4DYL2;Q8IWV7	.;UBR1_HUMAN	T	410	ENSP00000290650:R410T;ENSP00000371612:R410T	ENSP00000290650:R410T	R	-	2	0	UBR1	41135886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	2.675000	0.91044	0.650000	0.86243	AGA		0.284	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		5	88	0	0	0	1	0	5	88					G	43348594	C	G	43348594	3	3	137	1	0	0	0	0	1	0	0	0	16898	913	32	4	4168	4	UBR1	15	43348594	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		43348594	59182798	56	2364											
SYT17	51760	broad.mit.edu	37	16	19195026	19195026	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19195026G>A	ENST00000355377.2	+	5	906	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SYT17_ENST00000562034.1_Missense_Mutation_p.D109N|SYT17_ENST00000568115.1_Missense_Mutation_p.D109N|SYT17_ENST00000562711.2_Missense_Mutation_p.D166N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	170					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAACAGCGACGATGTGGACTC	0.567																																						uc002dfw.3																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(508-510)Gat>Aat		Homo sapiens synaptotagmin XVII (SYT17), mRNA.							98	78	85					16																	19195026		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195026G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.508G>A	16.37:g.19195026G>A	ENSP00000347538:p.Asp170Asn		Somatic				SYT17_uc002dfx.3_Missense_Mutation_p.D109N|SYT17_uc002dfy.3_Missense_Mutation_p.D166N	p.D170N	NM_016524	NP_057608	WXS	Illumina GAIIx	Phase_I	Q9BSW7	SYT17_HUMAN			4	839	+			170					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.508G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.800763	0.90538	.	.	ENSG00000103528	ENST00000355377	T	0.18174	2.23	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.33990	0.0882	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.959;0.99	T	0.03630	-1.1018	10	0.59425	D	0.04	.	19.4121	0.94679	0.0:0.0:1.0:0.0	.	170;109	Q9BSW7;B4DJB2	SYT17_HUMAN;.	N	170	ENSP00000347538:D170N	ENSP00000347538:D170N	D	+	1	0	SYT17	19102527	1.000000	0.71417	0.961000	0.40146	0.397000	0.30659	7.331000	0.79192	2.573000	0.86826	0.556000	0.70494	GAT		0.567	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		9	75	0	0	0	1	0	9	75					A	19195026	G	A	19195026	3	1	137	1	0	0	0	0	1	0	0	0	15470	1058	37	1	526	1	SYT17	16	19195026	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		19195026	71159727	57	2365											
TMC5	79838	broad.mit.edu	37	16	19451644	19451644	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19451644C>G	ENST00000396229.2	+	3	1033	c.284C>G	c.(283-285)tCt>tGt	p.S95C	TMC5_ENST00000542583.2_Missense_Mutation_p.S95C|TMC5_ENST00000381414.4_Missense_Mutation_p.S95C|TMC5_ENST00000541464.1_Missense_Mutation_p.S95C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	95					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTGCAGCCTCTAGAACAAGC	0.483																																						uc002dgc.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(283-285)tCt>tGt		Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.							150	149	149					16																	19451644		1948	4140	6088	SO:0001583	missense	79838					integral to membrane		g.chr16:19451644C>G	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.284C>G	16.37:g.19451644C>G	ENSP00000379531:p.Ser95Cys		Somatic				TMC5_uc010vaq.2_Missense_Mutation_p.S95C|TMC5_uc002dgb.4_Missense_Mutation_p.S95C|TMC5_uc010var.2_Missense_Mutation_p.S95C	p.S95C	NM_001105248	NP_001098718	WXS	Illumina GAIIx	Phase_I	Q6UXY8	TMC5_HUMAN			2	1033	+			95					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.284C>G	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195178	0.38806	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.72167	-0.48;-0.38;-0.63;-0.63	4.32	3.37	0.38596	.	52.471000	0.00166	N	0.000000	T	0.81837	0.4907	M	0.68952	2.095	0.09310	N	1	D;D;D	0.67145	0.996;0.993;0.996	P;P;P	0.61592	0.891;0.628;0.891	T	0.56709	-0.7934	10	0.66056	D	0.02	-6.0862	7.7437	0.28856	0.0:0.8851:0.0:0.1149	.	95;95;95	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	C	95	ENSP00000441227:S95C;ENSP00000370822:S95C;ENSP00000379531:S95C;ENSP00000446274:S95C	ENSP00000370822:S95C	S	+	2	0	TMC5	19359145	0.022000	0.18835	0.004000	0.12327	0.005000	0.04900	1.813000	0.38962	1.022000	0.39626	0.591000	0.81541	TCT		0.483	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		16	149	0	0	0	1	0	16	149					G	19451644	C	G	19451644	3	3	137	1	0	0	0	0	1	0	0	0	15985	913	32	4	286	4	TMC5	16	19451644	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	256618	19451644	70903109	58	2366											
SIAH1	6477	broad.mit.edu	37	16	48395650	48395650	+	Silent	SNP	A	A	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:48395650A>G	ENST00000380006.2	-	1	2143	c.690T>C	c.(688-690)caT>caC	p.H230H	SIAH1_ENST00000394725.2_Silent_p.H230H|LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000356721.3_Silent_p.H261H			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	230	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATCGTCGCCTATGACCATTTA	0.443																																						uc002efn.1																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(781-783)caT>caC		Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 2, mRNA.							123	104	110					16																	48395650		2200	4300	6500	SO:0001819	synonymous_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395650A>G	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.690T>C	16.37:g.48395650A>G			Somatic				MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efo.1_Silent_p.H230H|SIAH1_uc021ths.1_Silent_p.H230H|LOC100507577_uc021tht.1_5'Flank	p.H261H	NM_001006610	NP_003022	WXS	Illumina GAIIx	Phase_I	Q8IUQ4	SIAH1_HUMAN			1	1179	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	230			SBD.		A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	c.783T>C	CCDS10735.1																																																																																				0.443	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			3	34	0	0	0	1	0	3	34					G	48395650	A	G	48395650	2	3	137	1	0	0	0	0	0	0	0	1	14299	446	16	3		3	SIAH1	16	48395650	Silent	SNP	A	TCGA-DO-A2HM-01B-11D-A22D-08	28944006	48395650	41959103	59	2367											
CTCF	10664	broad.mit.edu	37	16	67663340	67663340	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67663340G>C	ENST00000264010.4	+	10	2185	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	CTCF_ENST00000401394.1_Missense_Mutation_p.D253H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	581					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGGCCCAGATGGCGTAGA	0.408																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.3																			0		p.P580T(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1741-1743)Gat>Cat		Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.							131	121	124					16																	67663340		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663340G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1741G>C	16.37:g.67663340G>C	ENSP00000264010:p.Asp581His		Somatic				CTCF_uc010cek.3_Missense_Mutation_p.D253H|CTCF_uc002etm.1_Missense_Mutation_p.D70H	p.D581H	NM_006565	NP_001177951	WXS	Illumina GAIIx	Phase_I	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2185	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	581					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1741G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247577	0.80024	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.08807	3.05;3.08	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.19167	0.0460	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.76494	0.984;0.999	P;D	0.77557	0.527;0.99	T	0.01998	-1.1232	10	0.62326	D	0.03	-4.7454	19.0838	0.93194	0.0:0.0:1.0:0.0	.	253;581	B5MC38;P49711	.;CTCF_HUMAN	H	581;253	ENSP00000264010:D581H;ENSP00000384707:D253H	ENSP00000264010:D581H	D	+	1	0	CTCF	66220841	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.589000	0.90817	2.625000	0.88918	0.313000	0.20887	GAT		0.408	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		7	57	0	0	0	1	0	7	57					C	67663340	G	C	67663340	3	2	137	1	0	0	0	0	1	0	0	0	4000	942	33	4	1771	4	CTCF	16	67663340	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	19267690	67663340	22691413	60	2368											
SLC12A4	6560	broad.mit.edu	37	16	67979417	67979417	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67979417C>G	ENST00000316341.3	-	22	3027	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E957Q|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E932Q|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E915Q|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E965Q|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E963Q	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	963					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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACAGGCTCTCCAGCCGCAGG	0.597																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2893-2895)Gag>Cag		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						65	65	65					16																	67979417		2197	4300	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979417C>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2887G>C	16.37:g.67979417C>G	ENSP00000318557:p.Glu963Gln		Somatic				LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E957Q|SLC12A4_uc010vkh.1_Missense_Mutation_p.E932Q|SLC12A4_uc002euz.2_Missense_Mutation_p.E963Q|SLC12A4_uc010vki.1_Missense_Mutation_p.E957Q|SLC12A4_uc002eva.2_Missense_Mutation_p.E963Q	p.E965Q	NM_001145962	NP_001139434	WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	20	2933	-		Ovarian(137;0.192)	963					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2893G>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775782	0.31411	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.43	5.43	0.79202	K/Cl co-transporter, type 1/type 3 (1);	0.279194	0.35124	N	0.003437	T	0.78929	0.4361	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B	0.31625	0.016;0.001;0.214;0.001;0.035;0.332	B;B;B;B;B;B	0.37480	0.015;0.027;0.239;0.009;0.062;0.251	T	0.75291	-0.3369	10	0.17832	T	0.49	.	19.2529	0.93932	0.0:1.0:0.0:0.0	.	965;957;932;957;963;963	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	Q	965;932;957;963	ENSP00000395983:E965Q;ENSP00000438334:E932Q;ENSP00000445962:E957Q;ENSP00000318557:E963Q	ENSP00000318557:E963Q	E	-	1	0	SLC12A4	66536918	0.006000	0.16342	0.999000	0.59377	0.672000	0.39443	1.443000	0.35057	2.557000	0.86248	0.557000	0.71058	GAG		0.597	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	76	0	0	0	1	0	5	76					G	67979417	C	G	67979417	3	3	137	1	0	0	0	0	1	0	0	0	14385	864	30	4	382	4	SLC12A4	16	67979417	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	316077	67979417	22375336	61	2369											
CIRH1A	84916	broad.mit.edu	37	16	69201033	69201033	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:69201033C>G	ENST00000314423.7	+	16	2066	c.1889C>G	c.(1888-1890)tCa>tGa	p.S630*	CIRH1A_ENST00000563094.1_3'UTR|CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.S515*			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	630					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACGAATGAATCAGATGTCATC	0.363																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1888-1890)tCa>tGa		Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.							123	125	124					16																	69201033		2198	4300	6498	SO:0001587	stop_gained	84916					nucleolus	protein binding	g.chr16:69201033C>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1889C>G	16.37:g.69201033C>G	ENSP00000327179:p.Ser630*		Somatic				CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.S547*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.S432*	p.S630*	NM_032830	NP_116219	WXS	Illumina GAIIx	Phase_I	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1985	+			630					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Nonsense_Mutation	SNP	ENST00000314423.7	37	c.1889C>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	40	8.494468	0.98836	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	.	.	.	6.03	6.03	0.97812	.	0.241223	0.43260	D	0.000585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	.	.	.	X	630;515	.	ENSP00000327179:S630X	S	+	2	0	CIRH1A	67758534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.949000	0.63596	2.861000	0.98227	0.655000	0.94253	TCA		0.363	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		4	84	0	0	0	1	0	4	84					G	69201033	C	G	69201033	4	3	137	1	0	0	0	0	0	1	0	0	3434	838	29	4	1947	4	CIRH1A	16	69201033	Nonsense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1221616	69201033	21153720	62	2370											
DEF8	54849	broad.mit.edu	37	16	90020690	90020691	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:90020690_90020691CC>TT	ENST00000268676.7	+	3	302_303	c.213_214CC>TT	c.(211-216)ttCCgg>ttTTgg	p.R72W	DEF8_ENST00000418391.2_Missense_Mutation_p.R11W|DEF8_ENST00000563795.1_Missense_Mutation_p.R11W|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Missense_Mutation_p.R11W|DEF8_ENST00000570182.1_Missense_Mutation_p.R11W|DEF8_ENST00000563594.1_Missense_Mutation_p.R11W	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	72					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.F71F(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGGCCCGTTTCCGGCAGGCCCA	0.644																																						uc002fpn.2																			1	Substitution - coding silent(1)	p.F71F(2)	lung(1)	central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(211-216)ttccgg>ttTTgg		Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.																																				SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90020690_90020691CC>TT	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	Exception_encountered	16.37:g.90020690_90020691delinsTT	ENSP00000268676:p.Arg72Trp		Somatic				DEF8_uc021tmu.1_Missense_Mutation_p.R11W|DEF8_uc002fpl.3_Missense_Mutation_p.R11W|DEF8_uc002fpm.3_Missense_Mutation_p.R11W|DEF8_uc002fpo.2_Missense_Mutation_p.R11W|DEF8_uc002fpp.2_Missense_Mutation_p.R11W|DEF8_uc021tmv.1_Missense_Mutation_p.R11W|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.R11W	p.R72W	NM_207514	NP_001229746	WXS	Illumina GAIIx	Phase_I	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	346_347	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	72					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	DNP	ENST00000268676.7	37	c.213_214CC>TT	CCDS10989.1																																																																																				0.644	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		4	80	0	0	0	1	0	4	80					TT	90020691	CC	TT	90020690	3	4	137	1	0	0	0	0	1	0	0	0	4387	854	30	2	219	2	DEF8	16	90020690	Missense_Mutation	DNP	CC	TCGA-DO-A2HM-01B-11D-A22D-08	20819657	90020690	334063	63	2371											
TSR1	55720	broad.mit.edu	37	17	2233812	2233812	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:2233812C>T	ENST00000301364.5	-	10	2846	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	589					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AATTTACCTTCTGTTCATGAG	0.433																																						uc002fuj.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1765-1767)caG>caA		Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.							66	64	65					17																	2233812		2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2233812C>T	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1767G>A	17.37:g.2233812C>T			Somatic				SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	p.Q589Q	NM_018128	NP_060598	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			9	2724	-			589					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.1767G>A	CCDS32525.1																																																																																				0.433	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		4	75	0	0	0	1	0	4	75					T	2233812	C	T	2233812	2	4	137	1	0	0	0	0	0	0	0	1	16661	912	32	2		2	TSR1	17	2233812	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		2233812	78961398	64	2372											
CHD3	1107	broad.mit.edu	37	17	7798683	7798683	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7798683G>C	ENST00000330494.7	+	10	1680	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H	CHD3_ENST00000380358.4_Missense_Mutation_p.Q569H|CHD3_ENST00000358181.4_Missense_Mutation_p.Q510H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	510	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTCGAGTGCAGAAGATCCTAC	0.557																																						uc002gjd.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1705-1707)caG>caC		Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.							91	86	88					17																	7798683		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798683G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1530G>C	17.37:g.7798683G>C	ENSP00000332628:p.Gln510His		Somatic				CHD3_uc002gje.2_Missense_Mutation_p.Q510H|CHD3_uc002gjf.2_Missense_Mutation_p.Q510H|CHD3_uc002gjg.1_Missense_Mutation_p.Q338H	p.Q569H	NM_001005271	NP_001005271	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			9	1709	+		Prostate(122;0.202)	510			Chromo 1.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1707G>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.76|14.76	2.631868|2.631868	0.46944|0.46944	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.4|5.4	2.26|2.26	0.28386|0.28386	.|Zinc finger, RING/FYVE/PHD-type (1);Chromo domain-like (1);Chromo domain/shadow (1);	.|0.000000	.|0.43747	.|D	.|0.000533	T|T	0.62865|0.62865	0.2463|0.2463	M|M	0.82433|0.82433	2.59|2.59	0.50171|0.50171	D|D	0.999859|0.999859	.|D;D;D	.|0.71674	.|0.998;0.996;0.996	.|D;D;D	.|0.80764	.|0.994;0.986;0.986	T|T	0.65121|0.65121	-0.6245|-0.6245	5|10	.|0.49607	.|T	.|0.09	-30.0879|-30.0879	10.8936|10.8936	0.47010|0.47010	0.2671:0.0:0.7329:0.0|0.2671:0.0:0.7329:0.0	.|.	.|510;510;569	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	Q|H	381|569;510;510	.|ENSP00000369716:Q569H;ENSP00000350907:Q510H;ENSP00000332628:Q510H	.|ENSP00000332628:Q510H	E|Q	+|+	1|3	0|2	CHD3|CHD3	7739408|7739408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	0.787000|0.787000	0.26858|0.26858	0.839000|0.839000	0.34971|0.34971	0.561000|0.561000	0.74099|0.74099	GAA|CAG		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		8	138	0	0	0	1	0	8	138					C	7798683	G	C	7798683	3	2	137	1	0	0	0	0	1	0	0	0	3326	933	33	4	1849	4	CHD3	17	7798683	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	5564871	7798683	73396527	65	2373											
ALOX12B	242	broad.mit.edu	37	17	7979610	7979610	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7979610G>A	ENST00000319144.4	-	11	1675	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	472	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTGAGCTCCGACAGAGCCCG	0.607										Multiple Myeloma(8;0.094)																												uc002gjy.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1414-1416)tCg>tTg		Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.							71	58	62					17																	7979610		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7979610G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1415C>T	17.37:g.7979610G>A	ENSP00000315167:p.Ser472Leu	Multiple Myeloma(8;0.094)	Somatic					p.S472L	NM_001139	NP_001130	WXS	Illumina GAIIx	Phase_I	O75342	LX12B_HUMAN			10	1676	-			472			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1415C>T	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049482	0.36181	.	.	ENSG00000179477	ENST00000319144	D	0.90444	-2.67	5.2	4.22	0.49857	Lipoxygenase, C-terminal (3);	0.612154	0.16672	N	0.204328	D	0.86793	0.6018	L	0.38175	1.15	0.09310	N	1	P	0.42941	0.794	B	0.43445	0.42	T	0.77900	-0.2415	10	0.39692	T	0.17	-5.5943	11.0477	0.47867	0.0:0.0:0.6651:0.3349	.	472	O75342	LX12B_HUMAN	L	472	ENSP00000315167:S472L	ENSP00000315167:S472L	S	-	2	0	ALOX12B	7920335	0.001000	0.12720	0.341000	0.25589	0.157000	0.22087	0.880000	0.28159	1.171000	0.42768	0.313000	0.20887	TCG		0.607	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	26	0	0	0	1	0	5	26					A	7979610	G	A	7979610	3	1	137	1	0	0	0	0	1	0	0	0	537	1059	37	1	710	1	ALOX12B	17	7979610	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	180927	7979610	73215600	66	2374											
MYH3	4621	broad.mit.edu	37	17	10533478	10533478	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:10533478C>T	ENST00000583535.1	-	38	5580	c.5493G>A	c.(5491-5493)caG>caA	p.Q1831Q	MYH3_ENST00000226209.7_Silent_p.Q1831Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1831					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTCTTCTTCTGCTCTCCCT	0.552																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5491-5493)caG>caA		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							262	259	260					17																	10533478		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10533478C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5493G>A	17.37:g.10533478C>T			Somatic					p.Q1831Q	NM_002470	NP_002461	WXS	Illumina GAIIx	Phase_I	P11055	MYH3_HUMAN			37	5581	-			1831					Q15492	Silent	SNP	ENST00000583535.1	37	c.5493G>A	CCDS11157.1																																																																																				0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		19	226	0	0	0	1	0	19	226					T	10533478	C	T	10533478	2	4	137	1	0	0	0	0	0	0	0	1	10036	912	32	2		2	MYH3	17	10533478	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	2553868	10533478	70661732	67	2375											
FLII	2314	broad.mit.edu	37	17	18150552	18150552	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:18150552C>G	ENST00000327031.4	-	21	2832	c.2607G>C	c.(2605-2607)aaG>aaC	p.K869N	FLII_ENST00000545457.2_Missense_Mutation_p.K814N|FLII_ENST00000579294.1_Missense_Mutation_p.K858N|FLII_ENST00000379450.4_Missense_Mutation_p.K783N|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	869					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCTGGTCTTTCTTCTCGGCGT	0.667																																						uc002gsr.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2605-2607)aaG>aaC		Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.							51	56	54					17																	18150552		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150552C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2607G>C	17.37:g.18150552C>G	ENSP00000324573:p.Lys869Asn		Somatic				FLII_uc002gsq.1_Missense_Mutation_p.K740N|FLII_uc010vxn.1_Missense_Mutation_p.K838N|FLII_uc010vxo.1_Missense_Mutation_p.K814N|FLII_uc002gss.1_Missense_Mutation_p.K868N	p.K869N	NM_002018	NP_002009	WXS	Illumina GAIIx	Phase_I	Q13045	FLII_HUMAN			20	2658	-	all_neural(463;0.228)		869					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2607G>C	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124306	0.56613	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.38240	1.15;1.23	5.41	2.31	0.28768	.	0.215747	0.48767	N	0.000180	T	0.26340	0.0643	L	0.51422	1.61	0.47037	D	0.999295	B;B;B;B;P	0.39665	0.09;0.09;0.001;0.207;0.682	B;B;B;B;B	0.32980	0.015;0.015;0.002;0.023;0.156	T	0.02736	-1.1117	10	0.32370	T	0.25	-33.6021	8.7649	0.34698	0.0:0.7469:0.1264:0.1267	.	783;783;748;869;838	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	N	869;748;783	ENSP00000324573:K869N;ENSP00000368763:K783N	ENSP00000324573:K869N	K	-	3	2	FLII	18091277	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.453000	0.66645	0.256000	0.21614	-0.300000	0.09419	AAG		0.667	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	55	0	0	0	1	0	7	55					G	18150552	C	G	18150552	3	3	137	1	0	0	0	0	1	0	0	0	5925	912	32	4	1242	4	FLII	17	18150552	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	7617074	18150552	63044658	68	2376											
ITGA2B	3674	broad.mit.edu	37	17	42458006	42458006	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:42458006G>A	ENST00000262407.5	-	14	1432	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_ENST00000353281.4_Silent_p.I467I|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	467					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.I467I(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602																																						uc002igt.1																			1	Substitution - coding silent(1)	p.I467I(2)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1399-1401)atC>atT		Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	Tirofiban(DB00775)						118	111	114					17																	42458006		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458006G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1401C>T	17.37:g.42458006G>A			Somatic				ITGA2B_uc002igu.1_5'UTR	p.I467I	NM_000419	NP_000410	WXS	Illumina GAIIx	Phase_I	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1433	-		Prostate(33;0.0181)	467					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.1401C>T	CCDS32665.1																																																																																				0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			12	77	0	0	0	1	0	12	77					A	42458006	G	A	42458006	2	1	137	1	0	0	0	0	0	0	0	1	7876	1048	37	1		1	ITGA2B	17	42458006	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	24307454	42458006	38737204	69	2377											
CBX1	10951	broad.mit.edu	37	17	46148811	46148811	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:46148811C>G	ENST00000393408.3	-	5	1024	c.544G>C	c.(544-546)Gat>Cat	p.D182H	CBX1_ENST00000225603.4_Missense_Mutation_p.D182H	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	182					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TTCTTGTCATCTTTTTTGTCA	0.493																																					NSCLC(136;694 2497 38792 39034)	uc002ind.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(544-546)Gat>Cat		Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.							118	102	107					17																	46148811		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46148811C>G	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.544G>C	17.37:g.46148811C>G	ENSP00000377060:p.Asp182His		Somatic				CBX1_uc002ine.4_Missense_Mutation_p.D182H	p.D182H	NM_006807	NP_006798	WXS	Illumina GAIIx	Phase_I	P83916	CBX1_HUMAN			4	1025	-			182					P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.544G>C	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124767	0.77436	.	.	ENSG00000108468	ENST00000225603;ENST00000393408	.	.	.	5.17	5.17	0.71159	.	0.323450	0.27048	U	0.021185	T	0.62768	0.2455	L	0.53249	1.67	0.80722	D	1	P	0.42757	0.789	P	0.46510	0.519	T	0.66180	-0.5988	9	0.62326	D	0.03	-5.6068	17.8648	0.88793	0.0:1.0:0.0:0.0	.	182	P83916	CBX1_HUMAN	H	182	.	ENSP00000225603:D182H	D	-	1	0	CBX1	43503810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.862000	0.69560	2.601000	0.87937	0.556000	0.70494	GAT		0.493	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		3	43	0	0	0	1	0	3	43					G	46148811	C	G	46148811	3	3	137	1	0	0	0	0	1	0	0	0	2717	913	32	4	17	4	CBX1	17	46148811	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	3690805	46148811	35046399	70	2378											
C17orf28	283987	broad.mit.edu	37	17	72959073	72959073	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:72959073C>T	ENST00000425042.2	-	4	568	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	164					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGTGCTCCTCCGGTGGCTCTG	0.662																																						uc002jmj.4																			0				endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17						c.(490-492)cGg>cAg		Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.							46	51	49					17																	72959073		2203	4300	6503	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72959073C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.491G>A	17.37:g.72959073C>T	ENSP00000413520:p.Arg164Gln		Somatic				C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.R163Q	p.R164Q	NM_030630	NP_085133	WXS	Illumina GAIIx	Phase_I	Q8IV36	CQ028_HUMAN			3	640	-	all_lung(278;0.151)|Lung NSC(278;0.185)		164					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.491G>A	CCDS32726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.41|18.41	3.618083|3.618083	0.66787|0.66787	.|.	.|.	ENSG00000167861|ENSG00000167861	ENST00000534480|ENST00000425042;ENST00000530857	.|.	.|.	.|.	4.65|4.65	3.68|3.68	0.42216|0.42216	.|.	.|0.057405	.|0.64402	.|D	.|0.000003	T|T	0.52289|0.52289	0.1725|0.1725	M|M	0.62723|0.62723	1.935|1.935	0.51767|0.51767	D|D	0.999931|0.999931	.|P;B	.|0.45768	.|0.866;0.023	.|B;B	.|0.39904	.|0.313;0.029	T|T	0.51702|0.51702	-0.8672|-0.8672	6|9	0.87932|0.31617	D|T	0|0.26	-20.5564|-20.5564	12.5368|12.5368	0.56145|0.56145	0.0:0.9181:0.0:0.0819|0.0:0.9181:0.0:0.0819	.|.	.|163;164	.|Q8IV36-2;Q8IV36	.|.;CQ028_HUMAN	R|Q	154|164;56	.|.	ENSP00000435751:G154R|ENSP00000413520:R164Q	G|R	-|-	1|2	0|0	C17orf28|C17orf28	70470668|70470668	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.982000|0.982000	0.71751|0.71751	4.363000|4.363000	0.59473|0.59473	0.942000|0.942000	0.37525|0.37525	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.662	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		8	72	0	0	0	1	0	8	72					T	72959073	C	T	72959073	3	4	137	1	0	0	0	0	1	0	0	0	1853	652	23	1	1939	1	C17orf28	17	72959073	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	26810262	72959073	8236137	71	2379											
KIAA1468	57614	broad.mit.edu	37	18	59947626	59947626	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr18:59947626G>A	ENST00000398130.2	+	23	3233	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1001										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGCGTTAGTTGACAAGCGGGT	0.448																																						uc002lil.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(3001-3003)Gac>Aac		Homo sapiens KIAA1468 (KIAA1468), mRNA.							129	117	121					18																	59947626		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59947626G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3001G>A	18.37:g.59947626G>A	ENSP00000381198:p.Asp1001Asn		Somatic				KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	p.D1001N	NM_020854	NP_065905	WXS	Illumina GAIIx	Phase_I	Q9P260	K1468_HUMAN			22	3216	+		Colorectal(73;0.186)	1001						Missense_Mutation	SNP	ENST00000398130.2	37	c.3001G>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	9.528	1.109970	0.20714	.	.	ENSG00000134444	ENST00000398130	T	0.67865	-0.29	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.091023	0.85682	D	0.000000	T	0.44095	0.1277	N	0.01576	-0.805	0.31783	N	0.630635	B	0.21071	0.051	B	0.29524	0.103	T	0.34875	-0.9811	9	.	.	.	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	1001	Q9P260	K1468_HUMAN	N	1001	ENSP00000381198:D1001N	.	D	+	1	0	KIAA1468	58098606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.835000	0.97688	0.591000	0.81541	GAC		0.448	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		9	127	0	0	0	1	0	9	127					A	59947626	G	A	59947626	3	1	137	1	0	0	0	0	1	0	0	0	8236	1290	45	2	3091	2	KIAA1468	18	59947626	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		59947626	18129622	72	2380											
FZR1	51343	broad.mit.edu	37	19	3523039	3523039	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3523039G>A	ENST00000395095.3	+	1	52	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FZR1_ENST00000313639.8_Missense_Mutation_p.E18K|SNORD38_ENST00000516599.1_RNA|FZR1_ENST00000441788.2_Missense_Mutation_p.E18K	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	18					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCCAGAATGAGAACACGAT	0.687																																						uc010dtk.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(52-54)Gag>Aag		Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.							74	74	74					19																	3523039		2203	4299	6502	SO:0001583	missense	51343				DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3523039G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.52G>A	19.37:g.3523039G>A	ENSP00000378529:p.Glu18Lys		Somatic				FZR1_uc002lxt.2_Missense_Mutation_p.E18K|FZR1_uc002lxv.2_Missense_Mutation_p.E18K	p.E18K	NM_001136198	NP_001129670	WXS	Illumina GAIIx	Phase_I	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	0	86	+			18					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.52G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031126	0.54790	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.07688	3.17;3.17;3.17	4.17	4.17	0.49024	.	0.065676	0.64402	D	0.000012	T	0.06280	0.0162	N	0.24115	0.695	0.31534	N	0.660834	B;B;B	0.24092	0.014;0.097;0.05	B;B;B	0.20767	0.008;0.031;0.019	T	0.10543	-1.0625	10	0.22109	T	0.4	-37.9369	13.3324	0.60495	0.0:0.0:1.0:0.0	.	18;18;18	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	K	18	ENSP00000410369:E18K;ENSP00000378529:E18K;ENSP00000321800:E18K	ENSP00000321800:E18K	E	+	1	0	FZR1	3474039	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	8.273000	0.89887	2.169000	0.68431	0.555000	0.69702	GAG		0.687	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		16	120	0	0	0	1	0	16	120					A	3523039	G	A	3523039	3	1	137	1	0	0	0	0	1	0	0	0	6138	1291	45	2	54	2	FZR1	19	3523039	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		3523039	55605944	73	2381											
GIPC3	126326	broad.mit.edu	37	19	3586871	3586871	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3586871C>T	ENST00000322315.5	+	3	516	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	157	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGACAGCATCGAAGCCATCA	0.627											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lyd.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(469-471)atC>atT		Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.							51	48	49					19																	3586871		2202	4300	6502	SO:0001819	synonymous_variant	126326							g.chr19:3586871C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.471C>T	19.37:g.3586871C>T			Somatic	OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.I157I	NM_133261	NP_573568	WXS	Illumina GAIIx	Phase_I	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	498	+			157			PDZ.		O75227	Silent	SNP	ENST00000322315.5	37	c.471C>T	CCDS32871.1																																																																																				0.627	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		4	42	0	0	0	1	0	4	42					T	3586871	C	T	3586871	2	4	137	1	0	0	0	0	0	0	0	1	6394	874	31	1		1	GIPC3	19	3586871	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	63832	3586871	55542112	74	2382											
HDGFRP2	729359	broad.mit.edu	37	19	4501226	4501226	+	IGR	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:4501226G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.E610K|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E610K	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTGAATGGCGAGGCCACATC	0.637																																						uc002mao.3																			0											c.(1828-1830)Gag>Aag		Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.							50	62	58					19																	4501226		2046	4190	6236	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4501226G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4501226G>A			Somatic				HDGFRP2_uc002map.3_Missense_Mutation_p.E610K|HDGFRP2_uc002maq.1_Missense_Mutation_p.E75K|HDGFRP2_uc010dua.3_Intron	p.E610K	NM_001001520	NP_001001520	WXS	Illumina GAIIx	Phase_I	Q7Z4V5	HDGR2_HUMAN			14	1921	+			605					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1828G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781861	0.31502	.	.	ENSG00000167674	ENST00000301284	T	0.49432	0.78	3.96	3.96	0.45880	.	0.070762	0.53938	D	0.000042	T	0.37237	0.0996	L	0.29908	0.895	0.37826	D	0.928557	D;P	0.60160	0.987;0.824	B;B	0.43867	0.434;0.081	T	0.38351	-0.9665	10	0.34782	T	0.22	.	13.5325	0.61629	0.0:0.0:1.0:0.0	.	605;610	Q7Z4V5-2;C9JEE1	.;.	K	610	ENSP00000301284:E610K	ENSP00000301284:E610K	E	+	1	0	AC011498.1	4452226	0.995000	0.38212	0.965000	0.40720	0.037000	0.13140	2.589000	0.46145	2.035000	0.60131	0.462000	0.41574	GAG		0.637	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		9	80	0	0	0	1	0	9	80					A	4501226	G	A	4501226	1	1	137	0	1	0	0	0	0	0	0	0	7020	1059	37	1		1	HDGFRP2	19	4501226	IGR	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	914355	4501226	54627757	75	2383											
ZNF177	7730	broad.mit.edu	37	19	9489680	9489680	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:9489680G>C	ENST00000589262.1	+	3	142	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	ZNF177_ENST00000590616.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000541595.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000343499.4_Missense_Mutation_p.E26Q|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000446085.4_Missense_Mutation_p.E26Q|ZNF177_ENST00000602738.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000434737.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000602856.1_Missense_Mutation_p.E26Q	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTTCCCAGGAGGAGTGGGC	0.458																																						uc021uon.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(76-78)Gag>Cag		Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.							118	108	111					19																	9489680		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9489680G>C	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.76G>C	19.37:g.9489680G>C	ENSP00000468531:p.Glu26Gln		Somatic				ZNF177_uc002mli.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlj.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlk.3_Missense_Mutation_p.E26Q	p.E26Q	NM_001172651	NP_001166122	WXS	Illumina GAIIx	Phase_I	Q13360	ZN177_HUMAN			2	237	+			26			KRAB.		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.76G>C	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102757	0.56183	.	.	ENSG00000188629	ENST00000541595;ENST00000446085;ENST00000343499;ENST00000434737	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	2.56	2.56	0.30785	Krueppel-associated box (4);	.	.	.	.	T	0.21921	0.0528	M	0.93197	3.39	0.24460	N	0.994443	D	0.76494	0.999	D	0.83275	0.996	T	0.36138	-0.9760	8	0.87932	D	0	.	8.7823	0.34798	0.0:0.0:1.0:0.0	.	26	Q13360	ZN177_HUMAN	Q	26	ENSP00000445323:E26Q;ENSP00000413568:E26Q;ENSP00000341497:E26Q;ENSP00000415070:E26Q	ENSP00000341497:E26Q	E	+	1	0	ZNF177	9350680	0.980000	0.34600	0.987000	0.45799	0.997000	0.91878	0.999000	0.29757	1.737000	0.51674	0.467000	0.42956	GAG		0.458	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		5	53	0	0	0	1	0	5	53					C	9489680	G	C	9489680	3	2	137	1	0	0	0	0	1	0	0	0	17743	1175	41	4	82	4	ZNF177	19	9489680	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	4988454	9489680	49639303	76	2384											
ARRDC2	27106	broad.mit.edu	37	19	18119799	18119799	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:18119799G>A	ENST00000222250.4	+	3	504	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Missense_Mutation_p.E116K	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	121					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GACATCCTTCGAGGGCAAACA	0.617																																						uc002nhv.3																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(361-363)Gag>Aag		Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.							74	68	70					19																	18119799		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18119799G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.361G>A	19.37:g.18119799G>A	ENSP00000222250:p.Glu121Lys		Somatic				ARRDC2_uc002nhu.3_Missense_Mutation_p.E116K	p.E121K	NM_015683	NP_056498	WXS	Illumina GAIIx	Phase_I	Q8TBH0	ARRD2_HUMAN			2	504	+			121					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.361G>A	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758084	0.69648	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.17854	2.94;2.25	4.44	4.44	0.53790	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35201	-0.9798	10	0.23302	T	0.38	-14.7463	16.45	0.83977	0.0:0.0:1.0:0.0	.	121;116	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	K	116;121	ENSP00000368977:E116K;ENSP00000222250:E121K	ENSP00000222250:E121K	E	+	1	0	ARRDC2	17980799	1.000000	0.71417	0.663000	0.29738	0.758000	0.43043	9.620000	0.98373	2.200000	0.70718	0.491000	0.48974	GAG		0.617	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		6	134	0	0	0	1	0	6	134					A	18119799	G	A	18119799	3	1	137	1	0	0	0	0	1	0	0	0	983	1059	37	1	634	1	ARRDC2	19	18119799	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	8630119	18119799	41009184	77	2385											
PSG5	5673	broad.mit.edu	37	19	43680121	43680121	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:43680121G>C	ENST00000366175.3	-	3	740	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG5_ENST00000407356.1_Missense_Mutation_p.L204V|PSG5_ENST00000599812.1_Missense_Mutation_p.L297V|PSG5_ENST00000342951.6_Missense_Mutation_p.L204V|PSG5_ENST00000404580.1_Missense_Mutation_p.L204V|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	204	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACACTGGGTAGAATGAGGATC	0.507																																						uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(610-612)Cta>Gta		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.							107	113	111					19																	43680121		2201	4292	6493	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43680121G>C		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.610C>G	19.37:g.43680121G>C	ENSP00000382334:p.Leu204Val		Somatic				PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.L204V	p.L204V	NM_002781	NP_002772	WXS	Illumina GAIIx	Phase_I	Q15238	PSG5_HUMAN			2	741	-		Prostate(69;0.00899)	204			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.610C>G	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	9.166	1.019819	0.19355	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.03801	3.8;3.8;3.8;3.8	1.08	-2.17	0.07059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08670	0.0215	L	0.53617	1.68	0.09310	N	1	P;B	0.49559	0.925;0.085	P;B	0.57371	0.819;0.25	T	0.21415	-1.0246	9	0.38643	T	0.18	.	1.4335	0.02339	0.3181:0.0:0.3382:0.3437	.	297;204	Q15228;Q15238	.;PSG5_HUMAN	V	204	ENSP00000382334:L204V;ENSP00000386008:L204V;ENSP00000344413:L204V;ENSP00000385250:L204V	ENSP00000344413:L204V	L	-	1	2	PSG5	48371961	0.073000	0.21202	0.022000	0.16811	0.032000	0.12392	-1.011000	0.03652	-0.357000	0.08175	0.184000	0.17185	CTA		0.507	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		13	131	0	0	0	1	0	13	131					C	43680121	G	C	43680121	3	2	137	1	0	0	0	0	1	0	0	0	12658	933	33	4	409	4	PSG5	19	43680121	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	25560322	43680121	15448862	78	2386											
PPP1R13L	10848	broad.mit.edu	37	19	45889407	45889407	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:45889407G>A	ENST00000418234.2	-	9	1925	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S616F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	616					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTGCGCGGGGAGCCCGCCTT	0.662																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1846-1848)tCc>tTc		Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.							6	8	7					19																	45889407		2168	4237	6405	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889407G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1847C>T	19.37:g.45889407G>A	ENSP00000403902:p.Ser616Phe		Somatic				PPP1R13L_uc002pbm.3_Missense_Mutation_p.S195F|PPP1R13L_uc002pbo.3_Missense_Mutation_p.S616F	p.S616F	NM_006663	NP_006654	WXS	Illumina GAIIx	Phase_I	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1924	-		all_neural(266;0.224)|Ovarian(192;0.231)	616					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1847C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061207	0.55432	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.59224	0.28;0.28	4.99	4.99	0.66335	Src homology-3 domain (1);	0.512077	0.21425	N	0.074743	T	0.64204	0.2577	N	0.24115	0.695	0.38749	D	0.954079	D;D	0.76494	0.999;0.998	D;P	0.73708	0.981;0.896	T	0.70197	-0.4938	10	0.87932	D	0	.	15.8232	0.78676	0.0:0.0:1.0:0.0	.	616;195	Q8WUF5;A7YME7	IASPP_HUMAN;.	F	616;616;190	ENSP00000403902:S616F;ENSP00000354218:S616F	ENSP00000221478:S190F	S	-	2	0	PPP1R13L	50581247	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	6.367000	0.73099	2.601000	0.87937	0.561000	0.74099	TCC		0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		4	10	0	0	0	1	0	4	10					A	45889407	G	A	45889407	3	1	137	1	0	0	0	0	1	0	0	0	12358	1174	41	2	659	2	PPP1R13L	19	45889407	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	2209286	45889407	13239576	79	2387											
PRKD2	25865	broad.mit.edu	37	19	47177807	47177807	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:47177807C>T	ENST00000291281.4	-	18	2835	c.2610G>A	c.(2608-2610)ggG>ggA	p.G870G	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Silent_p.G713G|PRKD2_ENST00000595515.1_Silent_p.G880G|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000433867.1_Silent_p.G870G|PRKD2_ENST00000601806.1_Silent_p.G713G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	870			G -> E (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTCCGCCAGCCCCTGCATGT	0.632																																						uc010xye.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2638-2640)ggG>ggA		Homo sapiens protein kinase D2 (PRKD2), transcript variant 1, mRNA.							44	33	37					19																	47177807		2203	4300	6503	SO:0001819	synonymous_variant	25865				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47177807C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2610G>A	19.37:g.47177807C>T			Somatic				PRKD2_uc010eks.3_Silent_p.G273G|PRKD2_uc010ekt.3_Silent_p.G137G|PRKD2_uc002pfg.3_Silent_p.G713G|PRKD2_uc002pfh.3_Silent_p.G870G|PRKD2_uc002pfi.3_Silent_p.G870G|PRKD2_uc002pfj.3_Silent_p.G870G|PRKD2_uc002pfk.3_Silent_p.G713G|LOC100506068_uc021uwh.1_Intron	p.G880G	NM_016457	NP_057541	WXS	Illumina GAIIx	Phase_I	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	18	2982	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	870					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.2640G>A	CCDS12689.1																																																																																				0.632	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		5	36	0	0	0	1	0	5	36					T	47177807	C	T	47177807	2	4	137	1	0	0	0	0	0	0	0	1	12519	726	26	2		2	PRKD2	19	47177807	Silent	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	1288400	47177807	11951176	80	2388											
SHANK1	50944	broad.mit.edu	37	19	51172499	51172499	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:51172499C>T	ENST00000293441.1	-	22	2736	c.2718G>A	c.(2716-2718)atG>atA	p.M906I	SHANK1_ENST00000391814.1_Missense_Mutation_p.M914I|SHANK1_ENST00000359082.3_Missense_Mutation_p.M897I|SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000391813.1_Missense_Mutation_p.M293I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	906					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)		GGCTGAATTTCATGGCTGGGG	0.647											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002psx.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.(2716-2718)atG>atA		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							23	21	22					19																	51172499		2201	4299	6500	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51172499C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2718G>A	19.37:g.51172499C>T	ENSP00000293441:p.Met906Ile		Somatic	OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	SHANK1_uc002psw.1_Missense_Mutation_p.M290I	p.M906I	NM_016148	NP_057232	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	21	2737	-		all_neural(266;0.057)	906					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2718G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962070	0.34659	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37411	1.31;1.76;1.3;1.2	3.77	2.71	0.32032	.	0.514149	0.15753	U	0.246306	T	0.31009	0.0783	L	0.46157	1.445	0.26874	N	0.96769	B;B	0.23990	0.006;0.095	B;B	0.30105	0.006;0.111	T	0.15723	-1.0427	10	0.27785	T	0.31	.	9.8462	0.41028	0.0:0.8927:0.0:0.1073	.	906;293	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	I	906;293;897;914	ENSP00000293441:M906I;ENSP00000375689:M293I;ENSP00000351984:M897I;ENSP00000375690:M914I	ENSP00000293441:M906I	M	-	3	0	SHANK1	55864311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.914000	0.48797	1.826000	0.53198	0.549000	0.68633	ATG		0.647	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		3	41	0	0	0	1	0	3	41					T	51172499	C	T	51172499	3	4	137	1	0	0	0	0	1	0	0	0	14264	826	29	2	3775	2	SHANK1	19	51172499	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08	3994692	51172499	7956484	81	2389											
SLC12A5	57468	broad.mit.edu	37	20	44670044	44670044	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr20:44670044G>C	ENST00000454036.2	+	8	1049	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E311Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	334					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)	GGAAGGAAATGAGACGGTGAC	0.542																																						uc010zxl.1																			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.(1000-1002)Gag>Cag		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						119	103	108					20																	44670044		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44670044G>C	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1000G>C	20.37:g.44670044G>C	ENSP00000387694:p.Glu334Gln		Somatic				SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.E311Q	p.E334Q	NM_001134771	NP_001128243	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			7	1076	+		Myeloproliferative disorder(115;0.0122)	334					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1000G>C	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326577	0.60743	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84589	-1.87;-1.87	4.75	4.75	0.60458	.	0.275950	0.35040	N	0.003484	T	0.76681	0.4021	N	0.25485	0.75	0.80722	D	1	B;P	0.36753	0.064;0.568	B;B	0.35114	0.041;0.196	T	0.74797	-0.3543	10	0.20519	T	0.43	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	334;311	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	334;311	ENSP00000387694:E334Q;ENSP00000243964:E311Q	ENSP00000243964:E311Q	E	+	1	0	SLC12A5	44103451	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.478000	0.73596	2.457000	0.83068	0.655000	0.94253	GAG		0.542	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			6	74	0	0	0	1	0	6	74					C	44670044	G	C	44670044	3	2	137	1	0	0	0	0	1	0	0	0	14386	1291	45	4	1086	4	SLC12A5	20	44670044	Missense_Mutation	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		44670044	18355476	82	2390											
TRPM2	7226	broad.mit.edu	37	21	45799002	45799002	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr21:45799002C>G	ENST00000397928.1	+	8	1582	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	TRPM2_ENST00000397932.2_Missense_Mutation_p.I379M|TRPM2_ENST00000300481.9_Missense_Mutation_p.I379M|TRPM2_ENST00000300482.5_Missense_Mutation_p.I379M|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	379					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						TCTCCCTGATCCAGCAGAAAC	0.597																																						uc010gpt.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.(1135-1137)atC>atG		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							120	89	99					21																	45799002		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45799002C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1137C>G	21.37:g.45799002C>G	ENSP00000381023:p.Ile379Met		Somatic				TRPM2_uc002zet.1_Missense_Mutation_p.I379M|TRPM2_uc002zeu.1_Missense_Mutation_p.I379M|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.I379M|TRPM2_uc002zex.1_Missense_Mutation_p.I165M	p.I379M	NM_003307	NP_003298	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			7	1237	+			379					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1137C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731651	0.30684	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	3.84	-0.37	0.12530	.	0.058458	0.64402	D	0.000002	T	0.48390	0.1497	L	0.60957	1.885	0.47511	D	0.999449	D;D	0.76494	0.999;0.997	D;P	0.69654	0.965;0.795	T	0.38520	-0.9657	10	0.62326	D	0.03	-21.3636	9.1709	0.37081	0.0:0.519:0.0:0.481	.	379;379	E9PGK7;O94759	.;TRPM2_HUMAN	M	379	ENSP00000300482:I379M;ENSP00000381023:I379M;ENSP00000300481:I379M;ENSP00000381026:I379M	ENSP00000300481:I379M	I	+	3	3	TRPM2	44623430	0.989000	0.36119	0.994000	0.49952	0.308000	0.27856	0.300000	0.19156	-0.323000	0.08602	-0.251000	0.11542	ATC		0.597	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	79	0	0	0	1	0	4	79					G	45799002	C	G	45799002	3	3	137	1	0	0	0	0	1	0	0	0	16583	845	30	4	1167	4	TRPM2	21	45799002	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		45799002	2330893	83	2391											
EIF3D	8664	broad.mit.edu	37	22	36920659	36920659	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr22:36920659C>T	ENST00000216190.8	-	4	660	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Missense_Mutation_p.R97Q	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAATCTCATTCGATTCCGCTG	0.512																																						uc003apr.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(289-291)cGa>cAa		Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.							145	120	129					22																	36920659		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36920659C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.290G>A	22.37:g.36920659C>T	ENSP00000216190:p.Arg97Gln		Somatic				EIF3D_uc011amt.2_Intron|EIF3D_uc011ams.2_5'UTR	p.R97Q	NM_003753	NP_003744	WXS	Illumina GAIIx	Phase_I	O15371	EIF3D_HUMAN			3	455	-			97						Missense_Mutation	SNP	ENST00000216190.8	37	c.290G>A	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	37	6.067219	0.97251	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675;ENST00000402116	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83831	0.0252	9	0.32370	T	0.25	0.0231	20.5568	0.99304	0.0:1.0:0.0:0.0	.	97	O15371	EIF3D_HUMAN	Q	97	.	ENSP00000216190:R97Q	R	-	2	0	EIF3D	35250605	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.541000	0.82084	2.861000	0.98227	0.655000	0.94253	CGA		0.512	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			14	114	0	0	0	1	0	14	114					T	36920659	C	T	36920659	3	4	137	1	0	0	0	0	1	0	0	0	5014	884	31	1	1404	1	EIF3D	22	36920659	Missense_Mutation	SNP	C	TCGA-DO-A2HM-01B-11D-A22D-08		36920659	14383907	84	2392											
FAM47C	442444	broad.mit.edu	37	X	37027623	37027623	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:37027623G>A	ENST00000358047.3	+	1	1192	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	380										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAACCTCCCA	0.617																																						uc004ddl.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1138-1140)ccG>ccA		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							62	62	62					X																	37027623		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027623G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1140G>A	X.37:g.37027623G>A			Somatic					p.P380P	NM_001013736	NP_001013758	WXS	Illumina GAIIx	Phase_I	Q5HY64	FA47C_HUMAN			0	1192	+			380					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1140G>A	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	48	0	0	0	1	0	3	48					A	37027623	G	A	37027623	2	1	137	1	0	0	0	0	0	0	0	1	5571	1103	39	1		1	FAM47C	23	37027623	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08		37027623	118242937	85	2393											
PHF16	9767	broad.mit.edu	37	X	46898446	46898446	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:46898446G>A	ENST00000218343.4	+	8	1249	c.951G>A	c.(949-951)ttG>ttA	p.L317L	PHF16_ENST00000397189.1_Silent_p.L317L	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGCAAGTTGAAGACGGGGG	0.532																																						uc004dgx.3																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(949-951)ttG>ttA		Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.							94	79	84					X																	46898446		2203	4300	6503	SO:0001819	synonymous_variant	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46898446G>A																												ENST00000218343.4:c.951G>A	X.37:g.46898446G>A			Somatic				PHF16_uc004dgy.3_Silent_p.L317L	p.L317L	NM_001077445	NP_055550	WXS	Illumina GAIIx	Phase_I	Q92613	JADE3_HUMAN			7	1002	+			317						Silent	SNP	ENST00000218343.4	37	c.951G>A	CCDS14271.1																																																																																				0.532	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			6	24	0	0	0	1	0	6	24					A	46898446	G	A	46898446	2	1	137	1	0	0	0	0	0	0	0	1	11827	1281	45	2		2	PHF16	23	46898446	Silent	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	9870823	46898446	108372114	86	2394											
LAMP2	3920	broad.mit.edu	37	X	119573020	119573020	+	Intron	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:119573020G>C	ENST00000200639.4	-	8	1230				LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.Q361E|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000371335.4_Missense_Mutation_p.Q408E			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TACAGAGTCTGATATCCAGCA	0.348																																						uc010nqp.1																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1222-1224)Cag>Gag		Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant B, mRNA.							134	115	122					X																	119573020		2203	4300	6503	SO:0001627	intron_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119573020G>C	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1093+2564C>G	X.37:g.119573020G>C			Somatic				LAMP2_uc004est.4_Intron|LAMP2_uc004ess.4_Intron|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.Q361E	p.Q408E	NM_013995	NP_054701	WXS	Illumina GAIIx	Phase_I	P13473	LAMP2_HUMAN			8	1402	-			408					A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.1222C>G	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201304	0.38905	.	.	ENSG00000005893	ENST00000371335;ENST00000540603	T;T	0.35789	1.29;1.29	5.62	5.62	0.85841	.	.	.	.	.	T	0.29817	0.0745	L	0.28694	0.88	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.009;0.002	T	0.04961	-1.0915	9	0.23302	T	0.38	.	17.6029	0.88030	0.0:0.0:1.0:0.0	.	361;408	B4E2S7;P13473-2	.;.	E	408;361	ENSP00000360386:Q408E;ENSP00000440479:Q361E	ENSP00000360386:Q408E	Q	-	1	0	LAMP2	119457048	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.373000	0.80994	0.600000	0.82982	CAG		0.348	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			7	33	0	0	0	1	0	7	33					C	119573020	G	C	119573020	1	2	137	0	1	0	0	0	0	0	0	0	8618	1299	45	4		4	LAMP2	23	119573020	Intron	SNP	G	TCGA-DO-A2HM-01B-11D-A22D-08	72674574	119573020	35697540	87	2395											
PLEKHA6	22874	broad.mit.edu	37	1	204192635	204192635	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:204192635delG	ENST00000272203.3	-	22	3426	c.3110delC	c.(3109-3111)ccafs	p.P1037fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.P1057fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1037										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGCCCCGTGGGGATTCAGA	0.592																																						uc001hau.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3109-3111)ccafs		Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.							20	20	20					1																	204192635		2056	3997	6053	SO:0001589	frameshift_variant	22874							g.chr1:204192635delG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3110delC	1.37:g.204192635delG	ENSP00000272203:p.Pro1037fs		Somatic					p.P1037fs	NM_014935	NP_055750	WXS	Illumina GAIIx	Phase_I	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		21	3427	-	all_cancers(21;0.0222)|Breast(84;0.179)		1037					A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	c.3110delC	CCDS1444.1																																																																																				0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		2	4						2	4	---	---	---	---	-	204192635	G	-	204192635	7	5	138	1	0	1	0	1	0	0	0	0	12060	1348	47	0	40	0	PLEKHA6	1	204192635	Frame_Shift_Del	DEL	G	TCGA-E3-A3DY-01A-11D-A20C-08		204192635	45057986	1	2396											
C2orf42	54980	broad.mit.edu	37	2	70408980	70408980	+	Silent	SNP	T	T	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:70408980T>A	ENST00000264434.2	-	3	517	c.138A>T	c.(136-138)acA>acT	p.T46T	C2orf42_ENST00000420306.1_Silent_p.T46T|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	46										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGTTCCACATGTCTTGTTCT	0.493																																						uc002sgh.3																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(136-138)acA>acT		Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.							160	120	133					2																	70408980		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70408980T>A	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.138A>T	2.37:g.70408980T>A			Somatic					p.T46T	NM_017880	NP_060350	WXS	Illumina GAIIx	Phase_I	Q9NWW7	CB042_HUMAN			2	466	-			46					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.138A>T	CCDS1899.1																																																																																				0.493	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		4	145	0	0	0	1	0	4	145					A	70408980	T	A	70408980	2	1	138	1	0	0	0	0	0	0	0	1	2166	1451	51	5		5	C2orf42	2	70408980	Silent	SNP	T	TCGA-E3-A3DY-01A-11D-A20C-08		70408980	172790393	2	2397											
MYO1B	4430	broad.mit.edu	37	2	192234339	192234339	+	Silent	SNP	C	C	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:192234339C>A	ENST00000392318.3	+	12	1351	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	MYO1B_ENST00000304164.4_Silent_p.I368I|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000339514.4_Silent_p.I368I|MYO1B_ENST00000392316.1_Silent_p.I368I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	368	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAATCGAATCAATGAAAGCA	0.299																																						uc010fsg.2																			0		p.R367*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1102-1104)atC>atA		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							70	70	70					2																	192234339		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	g.chr2:192234339C>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1104C>A	2.37:g.192234339C>A			Somatic				MYO1B_uc002usq.2_Silent_p.I368I|MYO1B_uc002usr.2_Silent_p.I368I	p.I368I	NM_001130158	NP_001155291	WXS	Illumina GAIIx	Phase_I	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		11	1359	+			368			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.1104C>A	CCDS46477.1																																																																																				0.299	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		4	106	0	0	0	1	0	4	106					A	192234339	C	A	192234339	2	1	138	1	0	0	0	0	0	0	0	1	10069	816	29	4		4	MYO1B	2	192234339	Silent	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	121825359	192234339	50965034	3	2398											
FGD5	152273	broad.mit.edu	37	3	14861821	14861821	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:14861821G>A	ENST00000285046.5	+	1	1353	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	FGD5_ENST00000543601.1_Missense_Mutation_p.V174I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	415					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGATGTGGTGGTCGTGCTGGA	0.682																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1243-1245)Gtc>Atc		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							25	30	28					3																	14861821		2055	4179	6234	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr3:14861821G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1243G>A	3.37:g.14861821G>A	ENSP00000285046:p.Val415Ile		Somatic				FGD5_uc011avk.2_Missense_Mutation_p.V415I	p.V415I	NM_152536	NP_689749	WXS	Illumina GAIIx	Phase_I	Q6ZNL6	FGD5_HUMAN			0	1353	+			415					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1243G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806213	0.31961	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76709	-1.04;-0.98	5.03	2.87	0.33458	.	0.377412	0.22446	N	0.059959	T	0.58779	0.2146	N	0.20986	0.625	0.22811	N	0.99871	B;B	0.28512	0.214;0.214	B;B	0.20767	0.031;0.031	T	0.42832	-0.9428	10	0.22109	T	0.4	-30.7446	8.3469	0.32279	0.3329:0.0:0.6671:0.0	.	174;415	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	415;174	ENSP00000285046:V415I;ENSP00000445949:V174I	ENSP00000285046:V415I	V	+	1	0	FGD5	14836825	0.041000	0.20044	0.441000	0.26858	0.113000	0.19764	0.846000	0.27682	1.116000	0.41820	0.591000	0.81541	GTC		0.682	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		3	54	0	0	0	1	0	3	54					A	14861821	G	A	14861821	3	1	138	1	0	0	0	0	1	0	0	0	5836	1261	44	2	1245	2	FGD5	3	14861821	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		14861821	183160609	4	2399											
C3orf63	23272	broad.mit.edu	37	3	56681126	56681126	+	Missense_Mutation	SNP	C	C	A	rs144722652	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:56681126C>A	ENST00000493960.2	-	14	1649	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	FAM208A_ENST00000431842.2_Missense_Mutation_p.A151S|FAM208A_ENST00000355628.5_Missense_Mutation_p.A547S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	547							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAATTTATGGCGCTTATATTT	0.328																																						uc003did.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(1639-1641)Gcc>Tcc		Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.							40	44	43					3																	56681126		2196	4295	6491	SO:0001583	missense	23272							g.chr3:56681126C>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1639G>T	3.37:g.56681126C>A	ENSP00000417509:p.Ala547Ser		Somatic				FAM208A_uc003dic.4_Missense_Mutation_p.A151S|FAM208A_uc003die.4_Missense_Mutation_p.A547S	p.A547S	NM_015224	NP_056039	WXS	Illumina GAIIx	Phase_I	Q9UK61	CC063_HUMAN			13	1740	-			547					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.1639G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	4.884	0.164362	0.09287	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11169	2.8;2.98;2.98	5.38	2.98	0.34508	.	0.382752	0.25211	N	0.032305	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.45366	-0.9266	10	0.06365	T	0.9	-2.2419	6.8896	0.24222	0.0:0.136:0.1272:0.7368	.	547;547;151	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	151;547;547	ENSP00000399410:A151S;ENSP00000417509:A547S;ENSP00000347845:A547S	ENSP00000347845:A547S	A	-	1	0	C3orf63	56656166	0.997000	0.39634	0.992000	0.48379	0.913000	0.54294	0.924000	0.28777	0.478000	0.27488	-0.238000	0.12139	GCC		0.328	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		3	65	0	0	0	1	0	3	65					A	56681126	C	A	56681126	3	1	138	1	0	0	0	0	1	0	0	0	2239	768	27	4	3477	4	C3orf63	3	56681126	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	41819305	56681126	141341304	5	2400											
NIPBL	25836	broad.mit.edu	37	5	36985887	36985887	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:36985887A>G	ENST00000282516.8	+	10	3104	c.2605A>G	c.(2605-2607)Aaa>Gaa	p.K869E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K869E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	869					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)			ACTAGAACGAAAACACAGGCA	0.398																																						uc003jkl.4																			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.(2605-2607)Aaa>Gaa		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							48	48	48					5																	36985887		2203	4300	6503	SO:0001583	missense	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.chr5:36985887A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2605A>G	5.37:g.36985887A>G	ENSP00000282516:p.Lys869Glu		Somatic				NIPBL_uc003jkk.4_Missense_Mutation_p.K869E|NIPBL_uc003jkm.1_Missense_Mutation_p.K748E	p.K869E	NM_133433	NP_597677	WXS	Illumina GAIIx	Phase_I	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	3104	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		869					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2605A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554454	0.45487	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93547	-3.24;-3.24	5.99	5.99	0.97316	.	0.141960	0.51477	D	0.000096	D	0.90345	0.6979	N	0.24115	0.695	0.47094	D	0.999312	P;P	0.50156	0.888;0.932	B;P	0.48571	0.378;0.582	D	0.88663	0.3190	10	0.19147	T	0.46	-17.1723	16.4943	0.84223	1.0:0.0:0.0:0.0	.	869;869	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	869	ENSP00000282516:K869E;ENSP00000406266:K869E	ENSP00000282516:K869E	K	+	1	0	NIPBL	37021644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.780000	0.62382	2.291000	0.77112	0.533000	0.62120	AAA		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	75	0	0	0	1	0	7	75					G	36985887	A	G	36985887	3	3	138	1	0	0	0	0	1	0	0	0	10428	15	1	3	2639	3	NIPBL	5	36985887	Missense_Mutation	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		36985887	143929373	6	2401											
BDP1	55814	broad.mit.edu	37	5	70840993	70840993	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:70840993C>T	ENST00000358731.4	+	32	6954	c.6691C>T	c.(6691-6693)Ccc>Tcc	p.P2231S	BDP1_ENST00000380675.2_Missense_Mutation_p.P367S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2231					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTTGAAGAGCCCCAGATAAA	0.468																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(6691-6693)Ccc>Tcc		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							115	107	109					5																	70840993		1846	4102	5948	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70840993C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6691C>T	5.37:g.70840993C>T	ENSP00000351575:p.Pro2231Ser		Somatic				BDP1_uc003kbo.3_Missense_Mutation_p.P2231S|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	p.P2231S	NM_018429	NP_060899	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	31	6954	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2231					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6691C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513164	0.27123	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.49720	3.6;0.77	4.45	-0.822	0.10819	.	0.848738	0.10487	N	0.668848	T	0.44953	0.1318	L	0.56769	1.78	0.09310	N	1	B;P	0.39326	0.221;0.668	B;B	0.39935	0.161;0.314	T	0.36578	-0.9742	10	0.56958	D	0.05	.	11.3565	0.49620	0.0:0.4328:0.4879:0.0793	.	2231;2231	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	S	2231;1779;367;367	ENSP00000351575:P2231S;ENSP00000370050:P367S	ENSP00000351575:P2231S	P	+	1	0	BDP1	70876749	0.001000	0.12720	0.002000	0.10522	0.062000	0.15995	-0.739000	0.04866	-0.607000	0.05738	-0.795000	0.03280	CCC		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		22	78	0	0	0	1	0	22	78					T	70840993	C	T	70840993	3	4	138	1	0	0	0	0	1	0	0	0	1395	739	26	2	6817	2	BDP1	5	70840993	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08	33855106	70840993	110074267	7	2402											
SOX30	11063	broad.mit.edu	37	5	157078329	157078329	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:157078329G>A	ENST00000265007.6	-	1	1099	c.758C>T	c.(757-759)cCg>cTg	p.P253L	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.P253L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTGGTGCGGCCCAAAGGC	0.647																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(757-759)cCg>cTg		Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.							42	45	44					5																	157078329		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078329G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.758C>T	5.37:g.157078329G>A	ENSP00000265007:p.Pro253Leu		Somatic				SOX30_uc003lxc.1_Missense_Mutation_p.P253L|SOX30_uc011dds.1_Intron	p.P253L	NM_178424	NP_848511	WXS	Illumina GAIIx	Phase_I	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	1100	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	253					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.758C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121787	0.20877	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.97959	-4.63;-4.24	5.18	2.38	0.29361	.	0.538685	0.17001	N	0.190915	D	0.93393	0.7893	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	D	0.87469	0.2413	10	0.62326	D	0.03	.	5.2346	0.15439	0.2285:0.0:0.6248:0.1467	.	253;253	O94993-2;O94993	.;SOX30_HUMAN	L	253	ENSP00000309343:P253L;ENSP00000265007:P253L	ENSP00000265007:P253L	P	-	2	0	SOX30	157010907	0.001000	0.12720	0.505000	0.27651	0.653000	0.38743	0.690000	0.25451	0.559000	0.29153	0.460000	0.39030	CCG		0.647	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		3	42	0	0	0	1	0	3	42					A	157078329	G	A	157078329	3	1	138	1	0	0	0	0	1	0	0	0	14952	1116	39	1	1523	1	SOX30	5	157078329	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08	86237336	157078329	23836931	8	2403											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		45	82	0	0	0	1	0	45	82					T	140453136	A	T	140453136	3	4	138	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3DY-01A-11D-A20C-08		140453136	18685527	9	2404											
ENTPD8	377841	broad.mit.edu	37	9	140332516	140332516	+	Silent	SNP	C	C	A	rs531135716	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr9:140332516C>A	ENST00000472938.1	-	2	163	c.147G>T	c.(145-147)gcG>gcT	p.A49A	ENTPD8_ENST00000344119.2_Silent_p.A49A|ENTPD8_ENST00000371506.2_Silent_p.A49A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	49					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGAGGAGCCCGCATCAAACA	0.647																																						uc004cmw.3																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(145-147)gcG>gcT		Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.							64	65	64					9																	140332516		2199	4300	6499	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140332516C>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.147G>T	9.37:g.140332516C>A			Somatic				ENTPD8_uc004cmx.3_Silent_p.A49A|ENTPD8_uc004cmy.2_Silent_p.A49A	p.A49A	NM_001033113	NP_001028285	WXS	Illumina GAIIx	Phase_I	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	2	331	-	all_cancers(76;0.0926)		49					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.147G>T	CCDS43913.1																																																																																				0.647	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		3	40	0	0	0	1	0	3	40					A	140332516	C	A	140332516	2	1	138	1	0	0	0	0	0	0	0	1	5145	639	23	4		4	ENTPD8	9	140332516	Silent	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		140332516	880915	10	2405											
NADSYN1	55191	broad.mit.edu	37	11	71185490	71185490	+	Missense_Mutation	SNP	G	G	A	rs199672894		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:71185490G>A	ENST00000319023.2	+	9	904	c.716G>A	c.(715-717)cGc>cAc	p.R239H	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	239	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GACGGGGACCGCCTGTACTAC	0.562																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(715-717)cGc>cAc		Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						137	120	126					11																	71185490		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding	g.chr11:71185490G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.716G>A	11.37:g.71185490G>A	ENSP00000326424:p.Arg239His		Somatic				NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	p.R239H	NM_018161	NP_060631	WXS	Illumina GAIIx	Phase_I	Q6IA69	NADE_HUMAN			8	842	+			239			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.716G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034868	0.93575	.	.	ENSG00000172890	ENST00000319023	D	0.86297	-2.1	4.7	4.7	0.59300	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.96153	0.9109	10	0.66056	D	0.02	-27.7658	15.1483	0.72677	0.0:0.0:1.0:0.0	.	239	Q6IA69	NADE_HUMAN	H	239	ENSP00000326424:R239H	ENSP00000326424:R239H	R	+	2	0	NADSYN1	70863138	1.000000	0.71417	0.950000	0.38849	0.906000	0.53458	8.541000	0.90644	2.139000	0.66308	0.561000	0.74099	CGC		0.562	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		8	122	0	0	0	1	0	8	122					A	71185490	G	A	71185490	3	1	138	1	0	0	0	0	1	0	0	0	10138	1087	38	1	750	1	NADSYN1	11	71185490	Missense_Mutation	SNP	G	TCGA-E3-A3DY-01A-11D-A20C-08		71185490	63821026	11	2406											
POLE	5426	broad.mit.edu	37	12	133218793	133218793	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr12:133218793C>G	ENST00000320574.5	-	38	5186	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	POLE_ENST00000535270.1_Missense_Mutation_p.E1688Q|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1715					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGTTGATCTCAACAGTGGCT	0.557								DNA polymerases (catalytic subunits)																														uc001uks.1																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(5143-5145)Gag>Cag	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.							117	118	118					12																	133218793		2203	4300	6503	SO:0001583	missense	5426				DNA synthesis involved in DNA repair|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|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218793C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5143G>C	12.37:g.133218793C>G	ENSP00000322570:p.Glu1715Gln		Somatic				POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E519Q|POLE_uc010tbq.1_Non-coding_Transcript	p.E1715Q	NM_006231	NP_006222	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	37	5187	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1715					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5143G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207838	0.58343	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.22336	1.96;1.96;1.96	5.43	5.43	0.79202	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.75447	2.3	0.58432	D	0.999999	P	0.42871	0.792	B	0.43194	0.411	T	0.09707	-1.0662	10	0.14656	T	0.56	.	19.2593	0.93961	0.0:1.0:0.0:0.0	.	1715	Q07864	DPOE1_HUMAN	Q	1715;1726;1688	ENSP00000322570:E1715Q;ENSP00000406383:E1726Q;ENSP00000445753:E1688Q	ENSP00000322570:E1715Q	E	-	1	0	POLE	131728866	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.405000	0.80007	2.557000	0.86248	0.655000	0.94253	GAG		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	237	0	0	0	1	0	5	237					G	133218793	C	G	133218793	3	3	138	1	0	0	0	0	1	0	0	0	12196	835	29	4	1765	4	POLE	12	133218793	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		133218793	633102	12	2407											
G2E3	55632	broad.mit.edu	37	14	31061616	31061616	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr14:31061616C>G	ENST00000206595.6	+	5	479	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	G2E3_ENST00000553504.1_Missense_Mutation_p.Q139E|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.Q63E	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	109					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATGTGGACTTCAGAGAGAATG	0.353																																						uc001wqk.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(325-327)Cag>Gag		Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.							119	114	116					14																	31061616		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31061616C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.325C>G	14.37:g.31061616C>G	ENSP00000206595:p.Gln109Glu		Somatic				G2E3_uc010tpe.1_Missense_Mutation_p.Q63E|G2E3_uc010tpf.1_Missense_Mutation_p.Q63E	p.Q109E	NM_017769	NP_060239	WXS	Illumina GAIIx	Phase_I	Q7L622	G2E3_HUMAN			4	479	+			109					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.325C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	7.070	0.568079	0.13560	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.93	1.88	0.25563	Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);	0.317699	0.39274	N	0.001406	T	0.39489	0.1080	N	0.02854	-0.475	0.34876	D	0.744052	B;B	0.25772	0.01;0.134	B;B	0.23574	0.02;0.047	T	0.32322	-0.9911	10	0.15066	T	0.55	-1.4209	14.7519	0.69533	0.1141:0.3309:0.555:0.0	.	63;109	B4DIF9;Q7L622	.;G2E3_HUMAN	E	109;109;63;139;109;109	ENSP00000206595:Q109E;ENSP00000448745:Q109E;ENSP00000391068:Q63E;ENSP00000451653:Q139E;ENSP00000451147:Q109E;ENSP00000446615:Q109E	ENSP00000206595:Q109E	Q	+	1	0	G2E3	30131367	0.897000	0.30589	0.998000	0.56505	0.969000	0.65631	0.276000	0.18716	0.070000	0.16634	-1.211000	0.01629	CAG		0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		3	76	0	0	0	1	0	3	76					G	31061616	C	G	31061616	3	3	138	1	0	0	0	0	1	0	0	0	6140	827	29	4	339	4	G2E3	14	31061616	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		31061616	76287924	13	2408											
MKL2	57496	broad.mit.edu	37	16	14304130	14304130	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr16:14304130C>T	ENST00000341243.5	+	2	152	c.152C>T	c.(151-153)aCg>aTg	p.T51M	MKL2_ENST00000573051.1_Missense_Mutation_p.T11M|MKL2_ENST00000572567.1_Missense_Mutation_p.T51M|MKL2_ENST00000318282.5_Missense_Mutation_p.T62M|MKL2_ENST00000571589.1_Missense_Mutation_p.T62M|MKL2_ENST00000574045.1_Missense_Mutation_p.T62M			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	51					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAAGGAGGACGAGAGAACAA	0.483																																						uc010uza.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(184-186)aCg>aTg		Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.							174	135	148					16																	14304130		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304130C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.152C>T	16.37:g.14304130C>T	ENSP00000345841:p.Thr51Met		Somatic				MKL2_uc002dcg.3_Missense_Mutation_p.T62M|MKL2_uc002dch.3_Missense_Mutation_p.T51M|MKL2_uc010uzb.2_Missense_Mutation_p.T11M	p.T62M	NM_014048	NP_054767	WXS	Illumina GAIIx	Phase_I	Q9ULH7	MKL2_HUMAN			3	340	+			51					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.185C>T		.	.	.	.	.	.	.	.	.	.	c	21.7	4.193636	0.78902	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99857	-7.22;-7.22	5.41	5.41	0.78517	.	0.102463	0.64402	D	0.000003	D	0.99854	0.9932	M	0.81341	2.54	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.96746	0.9550	10	0.87932	D	0	-17.4756	18.5536	0.91075	0.0:1.0:0.0:0.0	.	11;62;51;62	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	M	62;51;51	ENSP00000339086:T62M;ENSP00000345841:T51M	ENSP00000339086:T62M	T	+	2	0	MKL2	14211631	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.568000	0.82369	2.689000	0.91719	0.655000	0.94253	ACG		0.483	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		5	116	0	0	0	1	0	5	116					T	14304130	C	T	14304130	3	4	138	1	0	0	0	0	1	0	0	0	9602	536	19	1	191	1	MKL2	16	14304130	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		14304130	76050623	14	2409											
NLGN4Y	22829	broad.mit.edu	37	Y	16734111	16734111	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrY:16734111C>G	ENST00000297967.5	+	1	211	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	38					learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAAGTTCACCCTCATTGACAG	0.463																																						uc011nas.1																			0				large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						c.(112-114)Ctc>Gtc		Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.																																				SO:0001583	missense	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16734111C>G		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000297967.5:c.112C>G	Y.37:g.16734111C>G	ENSP00000297967:p.Leu38Val		Somatic				NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.L38V|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.L38V|NLGN4Y_uc004fti.4_Missense_Mutation_p.L38V	p.L38V	NM_001206850	NP_001193779	WXS	Illumina GAIIx	Phase_I	Q8NFZ3	NLGNY_HUMAN			1	291	+			38					F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000297967.5	37	c.112C>G	CCDS55553.1																																																																																				0.463	NLGN4Y-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014893		5	66	0	0	0	1	0	5	66					G	16734111	C	G	16734111	3	3	138	1	0	0	0	0	1	0	0	0	10465	681	24	4	114	4	NLGN4Y	24	16734111	Missense_Mutation	SNP	C	TCGA-E3-A3DY-01A-11D-A20C-08		16734111	42639455	15	2410											
KIAA1522	57648	broad.mit.edu	37	1	33233411	33233411	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:33233411A>G	ENST00000373480.1	+	2	185	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	KIAA1522_ENST00000401073.2_Missense_Mutation_p.K87E|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K39E|KIAA1522_ENST00000294521.3_Missense_Mutation_p.K28E	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	28										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGAGAATGACAAACATCTAAG	0.602																																						uc001bvu.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(259-261)Aaa>Gaa		Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.							99	101	100					1																	33233411		1921	4113	6034	SO:0001583	missense	57648							g.chr1:33233411A>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.82A>G	1.37:g.33233411A>G	ENSP00000362579:p.Lys28Glu		Somatic				KIAA1522_uc010ohm.1_Missense_Mutation_p.K39E|KIAA1522_uc001bvv.2_Missense_Mutation_p.K28E|KIAA1522_uc010ohn.1_Missense_Mutation_p.K28E	p.K87E	NM_020888	NP_065939	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			1	303	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	28					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.259A>G	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779994	0.49891	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000294521;ENST00000373480	T;T;T;T	0.33438	2.65;2.58;1.41;2.62	4.63	3.4	0.38934	.	0.365474	0.22952	N	0.053660	T	0.23492	0.0568	L	0.38175	1.15	0.22796	N	0.998721	B;P;B;B	0.42248	0.206;0.774;0.218;0.218	B;B;B;B	0.39299	0.059;0.296;0.059;0.059	T	0.13575	-1.0504	10	0.54805	T	0.06	0.1694	9.8111	0.40824	0.7332:0.2668:0.0:0.0	.	28;39;28;87	B4DQU8;Q9P206-3;Q9P206;Q9P206-2	.;.;K1522_HUMAN;.	E	87;39;28;28	ENSP00000383851:K87E;ENSP00000362580:K39E;ENSP00000294521:K28E;ENSP00000362579:K28E	ENSP00000294521:K28E	K	+	1	0	KIAA1522	33005998	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.777000	0.47717	2.034000	0.60081	0.379000	0.24179	AAA		0.602	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	167	0	0	0	1	0	6	167					G	33233411	A	G	33233411	3	3	139	1	0	0	0	0	1	0	0	0	8238	131	5	3	265	3	KIAA1522	1	33233411	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		33233411	216017210	1	2411											
SPAG17	200162	broad.mit.edu	37	1	118565931	118565931	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:118565931C>G	ENST00000336338.5	-	28	4130	c.4065G>C	c.(4063-4065)aaG>aaC	p.K1355N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1355						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTTACCTTTCTTTGTGTTGG	0.363																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4063-4065)aaG>aaC		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							100	95	97					1																	118565931		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118565931C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4065G>C	1.37:g.118565931C>G	ENSP00000337804:p.Lys1355Asn		Somatic					p.K1355N	NM_206996	NP_996879	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	27	4133	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1355					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4065G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786100	0.49997	.	.	ENSG00000155761	ENST00000336338	T	0.24908	1.83	5.87	3.95	0.45737	.	0.236733	0.41605	D	0.000848	T	0.27594	0.0678	M	0.68952	2.095	0.30123	N	0.805503	D	0.76494	0.999	P	0.59948	0.866	T	0.06481	-1.0824	10	0.54805	T	0.06	.	8.944	0.35747	0.0:0.8211:0.0:0.1789	.	1355	Q6Q759	SPG17_HUMAN	N	1355	ENSP00000337804:K1355N	ENSP00000337804:K1355N	K	-	3	2	SPAG17	118367454	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	0.910000	0.28571	1.427000	0.47276	0.591000	0.81541	AAG		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		23	25	0	0	0	1	0	23	25					G	118565931	C	G	118565931	3	3	139	1	0	0	0	0	1	0	0	0	14979	912	32	4	2690	4	SPAG17	1	118565931	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	85332520	118565931	130684690	2	2412											
ZNF692	55657	broad.mit.edu	37	1	249151529	249151529	+	Missense_Mutation	SNP	T	T	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr1:249151529T>G	ENST00000306601.4	-	4	545	c.379A>C	c.(379-381)Agc>Cgc	p.S127R	ZNF692_ENST00000366469.5_Missense_Mutation_p.S127R|ZNF692_ENST00000427146.1_Missense_Mutation_p.S127R|ZNF692_ENST00000451251.1_Missense_Mutation_p.S132R|ZNF692_ENST00000366471.3_Missense_Mutation_p.S127R|ZNF692_ENST00000468455.1_5'UTR|AL672294.1_ENST00000417047.1_RNA	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	127					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(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGTGTAGGGCTCAAAGAGGGT	0.637																																						uc010pzr.2																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(394-396)Agc>Cgc		Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 1, mRNA.							95	97	96					1																	249151529		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151529T>G	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"Zinc fingers, C2H2-type"	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.379A>C	1.37:g.249151529T>G	ENSP00000305483:p.Ser127Arg		Somatic				ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc001ifc.2_Missense_Mutation_p.S127R|ZNF692_uc001iff.2_Missense_Mutation_p.S127R	p.S132R	NM_001136036	NP_060335	WXS	Illumina GAIIx	Phase_I	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		3	806	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	127					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.394A>C	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995091	0.35226	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251;ENST00000496231	T;T;T;T;T	0.08282	3.16;3.14;3.14;3.11;3.13	4.12	0.908	0.19326	.	0.666587	0.14389	N	0.322631	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.45308	-0.9270	10	0.15499	T	0.54	-0.0631	2.4558	0.04529	0.23:0.4915:0.0:0.2786	.	132;127;127	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	R	127;127;127;127;132;127	ENSP00000305483:S127R;ENSP00000390044:S127R;ENSP00000355427:S127R;ENSP00000355425:S127R;ENSP00000391200:S132R	ENSP00000305483:S127R	S	-	1	0	ZNF692	247118152	0.001000	0.12720	0.007000	0.13788	0.409000	0.31022	-0.031000	0.12287	0.188000	0.20168	0.519000	0.50382	AGC		0.637	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		54	81	0	0	0	1	0	54	81					G	249151529	T	G	249151529	3	3	139	1	0	0	0	0	1	0	0	0	18094	1551	54	5	1216	5	ZNF692	1	249151529	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08	130585598	249151529	99092	3	2413											
GCC2	9648	broad.mit.edu	37	2	109087511	109087511	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr2:109087511A>T	ENST00000309863.6	+	6	2440	c.1726A>T	c.(1726-1728)Agt>Tgt	p.S576C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	576					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTTAGTCTCAGTCAAAGAGA	0.289																																						uc002tec.3																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1726-1728)Agt>Tgt		Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.							26	28	27					2																	109087511		2007	4191	6198	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087511A>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1726A>T	2.37:g.109087511A>T	ENSP00000307939:p.Ser576Cys		Somatic				GCC2_uc002ted.3_Missense_Mutation_p.S475C	p.S576C	NM_181453	NP_852118	WXS	Illumina GAIIx	Phase_I	Q8IWJ2	GCC2_HUMAN			5	1880	+			576					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.1726A>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649241	0.29336	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.34275	1.37	5.62	3.22	0.36961	.	0.542701	0.20920	N	0.083300	T	0.29817	0.0745	L	0.44542	1.39	0.09310	N	1	D	0.55800	0.973	B	0.43754	0.43	T	0.14364	-1.0475	10	0.59425	D	0.04	.	6.8432	0.23975	0.4111:0.4388:0.1501:0.0	.	576	Q8IWJ2	GCC2_HUMAN	C	576;539;321	ENSP00000307939:S576C	ENSP00000307939:S576C	S	+	1	0	GCC2	108453943	0.001000	0.12720	0.971000	0.41717	0.592000	0.36648	0.620000	0.24403	0.484000	0.27630	0.528000	0.53228	AGT		0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		14	15	0	0	0	1	0	14	15					T	109087511	A	T	109087511	3	4	139	1	0	0	0	0	1	0	0	0	6286	188	7	5	1748	5	GCC2	2	109087511	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		109087511	134111862	4	2414											
AMBN	258	broad.mit.edu	37	4	71465351	71465351	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:71465351T>A	ENST00000322937.6	+	5	385	c.282T>A	c.(280-282)caT>caA	p.H94Q	AMBN_ENST00000449493.2_Missense_Mutation_p.H94Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	94					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGAGAACATGAAACTCAAC	0.383																																						uc003hfl.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(280-282)caT>caA		Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.							84	81	82					4																	71465351		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71465351T>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.282T>A	4.37:g.71465351T>A	ENSP00000313809:p.His94Gln		Somatic					p.H94Q	NM_016519	NP_057603	WXS	Illumina GAIIx	Phase_I	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		4	383	+			94					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.282T>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.272791	0.59649	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.40225	1.04;1.04	5.72	-3.32	0.04973	.	0.372524	0.26079	N	0.026467	T	0.44350	0.1289	L	0.53249	1.67	0.31947	N	0.610116	D	0.89917	1.0	D	0.87578	0.998	T	0.49890	-0.8891	10	0.30078	T	0.28	-8.3376	1.047	0.01571	0.1361:0.2363:0.2806:0.347	.	94	Q9NP70	AMBN_HUMAN	Q	94	ENSP00000313809:H94Q;ENSP00000391234:H94Q	ENSP00000313809:H94Q	H	+	3	2	AMBN	71499940	0.968000	0.33430	0.988000	0.46212	0.655000	0.38815	-0.023000	0.12456	-0.405000	0.07599	0.482000	0.46254	CAT		0.383	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		5	79	0	0	0	1	0	5	79					A	71465351	T	A	71465351	3	1	139	1	0	0	0	0	1	0	0	0	563	1461	51	5	300	5	AMBN	4	71465351	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08		71465351	119688925	5	2415											
FAM13A	10144	broad.mit.edu	37	4	89702434	89702434	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:89702434T>A	ENST00000264344.5	-	11	1547	c.1340A>T	c.(1339-1341)cAg>cTg	p.Q447L	FAM13A_ENST00000395002.2_Missense_Mutation_p.Q121L|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q93L|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q121L|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q107L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	447					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTCGACTTCCTGAGTATTCAA	0.358																																						uc003hse.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(1339-1341)cAg>cTg		Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.							100	100	100					4																	89702434		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89702434T>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1340A>T	4.37:g.89702434T>A	ENSP00000264344:p.Gln447Leu		Somatic				FAM13A_uc003hsb.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsd.1_Missense_Mutation_p.Q121L|FAM13A_uc003hsc.1_Missense_Mutation_p.Q107L|FAM13A_uc011cdq.1_Missense_Mutation_p.Q93L|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Missense_Mutation_p.Q261L|FAM13A_uc010ikr.1_5'UTR	p.Q447L	NM_014883	NP_055698	WXS	Illumina GAIIx	Phase_I	O94988	FA13A_HUMAN			10	1548	-			447					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1340A>T	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571962	0.45798	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	T;T;T;T;T	0.63417	-0.04;-0.04;1.44;-0.04;1.45	5.23	2.78	0.32641	.	0.549798	0.20015	N	0.101027	T	0.48750	0.1517	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.28128	0.034;0.201;0.034;0.034;0.034	B;B;B;B;B	0.21708	0.036;0.023;0.036;0.036;0.036	T	0.24621	-1.0155	10	0.15066	T	0.55	.	8.0819	0.30750	0.0:0.0702:0.136:0.7938	.	93;447;121;107;121	O94988-6;O94988;O94988-3;O94988-5;O94988-1	.;FA13A_HUMAN;.;.;.	L	121;447;107;121;93	ENSP00000378450:Q121L;ENSP00000264344:Q447L;ENSP00000427189:Q107L;ENSP00000421562:Q121L;ENSP00000423252:Q93L	ENSP00000264344:Q447L	Q	-	2	0	FAM13A	89921457	1.000000	0.71417	0.253000	0.24343	0.356000	0.29392	2.829000	0.48128	0.440000	0.26502	0.528000	0.53228	CAG		0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			38	78	0	0	0	1	0	38	78					A	89702434	T	A	89702434	3	1	139	1	0	0	0	0	1	0	0	0	5452	1580	55	5	1787	5	FAM13A	4	89702434	Missense_Mutation	SNP	T	TCGA-E3-A3DZ-01A-11D-A20C-08	18237083	89702434	101451842	6	2416											
MARCH1	55016	broad.mit.edu	37	4	164506962	164506962	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr4:164506962C>T	ENST00000503008.1	-	6	1338	c.362G>A	c.(361-363)cGc>cAc	p.R121H	MARCH1_ENST00000339875.5_Missense_Mutation_p.R104H|MARCH1_ENST00000514618.1_Missense_Mutation_p.R377H|MARCH1_ENST00000274056.7_Missense_Mutation_p.R121H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	121					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCACAGCAGCGTGTATCTGA	0.527																																						uc003iqs.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(361-363)cGc>cAc		Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.							123	112	116					4																	164506962		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506962C>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.362G>A	4.37:g.164506962C>T	ENSP00000427223:p.Arg121His		Somatic				MARCH1_uc003iqr.2_Missense_Mutation_p.R104H	p.R121H	NM_001166373	NP_001159845	WXS	Illumina GAIIx	Phase_I	Q8TCQ1	MARH1_HUMAN			5	544	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	121					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.362G>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467604	0.96257	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.64402	D	0.000002	T	0.61937	0.2387	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.949	T	0.60239	-0.7302	10	0.51188	T	0.08	-52.0378	19.5557	0.95347	0.0:1.0:0.0:0.0	.	121;104	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	H	121;121;377;104;121	ENSP00000274056:R121H;ENSP00000427223:R121H;ENSP00000421322:R377H;ENSP00000345676:R104H;ENSP00000426731:R121H	ENSP00000274056:R121H	R	-	2	0	MARCH1	164726412	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	7.818000	0.86416	2.628000	0.89032	0.585000	0.79938	CGC		0.527	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		40	118	0	0	0	1	0	40	118					T	164506962	C	T	164506962	3	4	139	1	0	0	0	0	1	0	0	0	9298	768	27	1	519	1	MARCH1	4	164506962	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	74804528	164506962	26647314	7	2417											
NSD1	64324	broad.mit.edu	37	5	176636938	176636938	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176636938A>G	ENST00000439151.2	+	5	1583	c.1538A>G	c.(1537-1539)aAg>aGg	p.K513R	NSD1_ENST00000354179.4_Missense_Mutation_p.K244R|NSD1_ENST00000347982.4_Missense_Mutation_p.K244R|NSD1_ENST00000361032.4_Missense_Mutation_p.K410R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	513					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)		AGTGTGAAAAAGGGCCACATA	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.4				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		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.(1537-1539)aAg>aGg		Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.							62	69	67					5																	176636938		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	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.chr5:176636938A>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1538A>G	5.37:g.176636938A>G	ENSP00000395929:p.Lys513Arg	HNSCC(47;0.14)	Somatic				NSD1_uc003mft.4_Missense_Mutation_p.K244R|NSD1_uc003mfs.1_Missense_Mutation_p.K410R|NSD1_uc011dfx.2_Missense_Mutation_p.K161R	p.K513R	NM_022455	NP_071900	WXS	Illumina GAIIx	Phase_I	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)	4	1676	+	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)	513					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1538A>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735030	0.69189	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96459	-3.89;-3.93;-3.89;-4.02	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000002	D	0.96237	0.8773	L	0.29908	0.895	0.31828	N	0.625073	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	D	0.95541	0.8612	9	.	.	.	.	14.0611	0.64800	1.0:0.0:0.0:0.0	.	244;410;513	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	244;244;513;244;410	ENSP00000346111:K244R;ENSP00000395929:K513R;ENSP00000343209:K244R;ENSP00000354310:K410R	.	K	+	2	0	NSD1	176569544	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.046000	0.71029	2.139000	0.66308	0.482000	0.46254	AAG		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		3	87	0	0	0	1	0	3	87					G	176636938	A	G	176636938	3	3	139	1	0	0	0	0	1	0	0	0	10669	72	3	3	1552	3	NSD1	5	176636938	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		176636938	4278322	8	2418											
PDLIM7	9260	broad.mit.edu	37	5	176919616	176919616	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr5:176919616G>A	ENST00000355841.2	-	3	225	c.159C>T	c.(157-159)atC>atT	p.I53I	PDLIM7_ENST00000356618.4_Silent_p.I53I|PDLIM7_ENST00000359895.2_Silent_p.I53I|RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000393551.1_Silent_p.I53I|PDLIM7_ENST00000355572.2_Silent_p.I53I	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	53	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			TCTCGCCATCGATGCTCAGCA	0.652																																						uc003mhc.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.(157-159)atC>atT		Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA.							57	57	57					5																	176919616		2203	4300	6503	SO:0001819	synonymous_variant	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176919616G>A	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.159C>T	5.37:g.176919616G>A			Somatic				PDLIM7_uc003mha.1_5'Flank|PDLIM7_uc003mhd.1_5'UTR|PDLIM7_uc003mhe.1_Non-coding_Transcript|PDLIM7_uc003mhb.1_Silent_p.I53I|PDLIM7_uc003mhf.3_Silent_p.I53I|PDLIM7_uc003mhg.1_Silent_p.I53I	p.I53I	NM_005451	NP_005442	WXS	Illumina GAIIx	Phase_I	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	244	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	53			PDZ.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	ENST00000355841.2	37	c.159C>T	CCDS4422.1																																																																																				0.652	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		4	141	0	0	0	1	0	4	141					A	176919616	G	A	176919616	2	1	139	1	0	0	0	0	0	0	0	1	11684	1048	37	1		1	PDLIM7	5	176919616	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	282678	176919616	3995644	9	2419											
COBL	23242	broad.mit.edu	37	7	51092971	51092971	+	Silent	SNP	C	C	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr7:51092971C>T	ENST00000265136.7	-	12	3768	c.3603G>A	c.(3601-3603)ctG>ctA	p.L1201L	RP4-724E13.2_ENST00000582616.1_RNA|COBL_ENST00000395542.2_Silent_p.L1283L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1201					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)					CTGGTGGGGACAGAAGACCAA	0.627																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.4																			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.(3601-3603)ctG>ctA		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							23	26	25					7																	51092971		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51092971C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3603G>A	7.37:g.51092971C>T			Somatic				COBL_uc003tps.3_Intron|COBL_uc011kcl.2_Intron|COBL_uc003tpp.4_Silent_p.L987L|COBL_uc003tpq.4_Intron|COBL_uc003tpo.4_Silent_p.L743L	p.L1201L	NM_015198	NP_056013	WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			11	3788	-	Glioma(55;0.08)		1201					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3603G>A	CCDS34637.1																																																																																				0.627	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		25	48	0	0	0	1	0	25	48					T	51092971	C	T	51092971	2	4	139	1	0	0	0	0	0	0	0	1	3653	465	17	2		2	COBL	7	51092971	Silent	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08		51092971	108045692	10	2420											
DCAF13	25879	broad.mit.edu	37	8	104444914	104444914	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr8:104444914A>G	ENST00000297579.5	+	7	1463	c.1186A>G	c.(1186-1188)Atc>Gtc	p.I396V	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	244					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AACAAATACAATCTGTTGGAA	0.323																																						uc003yln.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1186-1188)Atc>Gtc		Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.							81	89	86					8																	104444914		2203	4297	6500	SO:0001583	missense	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104444914A>G	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1186A>G	8.37:g.104444914A>G	ENSP00000297579:p.Ile396Val		Somatic				DCAF13_uc003ylm.1_Missense_Mutation_p.I129V	p.I396V	NM_015420	NP_056235	WXS	Illumina GAIIx	Phase_I	Q9NV06	DCA13_HUMAN			6	1463	+			244					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	c.1186A>G	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970438	0.34754	.	.	ENSG00000164934	ENST00000297579	T	0.01295	5.04	5.45	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.063310	0.64402	D	0.000006	T	0.01592	0.0051	L	0.35414	1.06	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.58538	-0.7619	10	0.41790	T	0.15	-18.6581	10.7679	0.46305	0.6121:0.3879:0.0:0.0	.	244	Q9NV06	DCA13_HUMAN	V	396	ENSP00000297579:I396V	ENSP00000297579:I396V	I	+	1	0	DCAF13	104514090	0.982000	0.34865	1.000000	0.80357	0.984000	0.73092	0.798000	0.27014	2.189000	0.69895	0.460000	0.39030	ATC		0.323	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420		27	34	0	0	0	1	0	27	34					G	104444914	A	G	104444914	3	3	139	1	0	0	0	0	1	0	0	0	4266	101	4	3	1212	3	DCAF13	8	104444914	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08		104444914	41919108	11	2421											
PALM2	114299	broad.mit.edu	37	9	112705375	112705375	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr9:112705375G>A	ENST00000374531.2	+	7	884	c.810G>A	c.(808-810)ccG>ccA	p.P270P	PALM2_ENST00000483909.1_Silent_p.P268P|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000448454.2_Silent_p.P304P|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Silent_p.P302P|PALM2-AKAP2_ENST00000302798.7_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	270					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTGCAGGGCCGGAGGCAAACT	0.502																																						uc004bei.2																			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.(904-906)ccG>ccA		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							74	75	75					9																	112705375		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112705375G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.810G>A	9.37:g.112705375G>A			Somatic				PALM2-AKAP2_uc004beg.3_Silent_p.P270P|PALM2-AKAP2_uc004beh.4_Silent_p.P302P|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.P302P	NM_001136562	NP_001130034	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			6	1098	+			558					A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.906G>A	CCDS35099.1																																																																																				0.502	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		3	58	0	0	0	1	0	3	58					A	112705375	G	A	112705375	2	1	139	1	0	0	0	0	0	0	0	1	11409	1103	39	1		1	PALM2	9	112705375	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		112705375	28508056	12	2422											
YME1L1	10730	broad.mit.edu	37	10	27420862	27420862	+	Missense_Mutation	SNP	G	G	A	rs199774208		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:27420862G>A	ENST00000326799.3	-	9	1103	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	YME1L1_ENST00000375972.3_Missense_Mutation_p.R229W|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262W|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	319					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTTGTTGTCCGGAAGCGGACT	0.368																																						uc001iti.3																			0		p.R319L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(955-957)Cgg>Tgg		Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							108	104	105					10																	27420862		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27420862G>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.955C>T	10.37:g.27420862G>A	ENSP00000318480:p.Arg319Trp		Somatic				YME1L1_uc001itj.3_Missense_Mutation_p.R262W|YME1L1_uc010qdl.2_Missense_Mutation_p.R229W	p.R319W	NM_139312	NP_647473	WXS	Illumina GAIIx	Phase_I	Q96TA2	YMEL1_HUMAN			8	1165	-			319					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.955C>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239288	0.58995	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324	D;D;D	0.93763	-3.26;-3.28;-3.21	5.49	5.49	0.81192	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95971	0.8688	M	0.74467	2.265	0.80722	D	1	P;D;B	0.89917	0.635;1.0;0.087	B;D;B	0.67103	0.049;0.949;0.039	D	0.95964	0.8964	10	0.87932	D	0	-4.4474	13.8619	0.63566	0.0:0.0:0.7325:0.2675	.	229;262;319	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	W	262;319;319;229;65;229	ENSP00000365184:R262W;ENSP00000318480:R319W;ENSP00000365139:R229W	ENSP00000318480:R319W	R	-	1	2	YME1L1	27460868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.406000	0.59748	2.744000	0.94065	0.650000	0.86243	CGG		0.368	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	85	0	0	0	1	0	3	85					A	27420862	G	A	27420862	3	1	139	1	0	0	0	0	1	0	0	0	17484	1115	39	1	1414	1	YME1L1	10	27420862	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		27420862	108113885	13	2423											
ZNF33B	7582	broad.mit.edu	37	10	43089114	43089114	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr10:43089114G>A	ENST00000359467.3	-	5	1398	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	428					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(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGTTTAGTGAGGTCAGATT	0.418																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1282-1284)ctC>ctT		Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.							108	108	108					10																	43089114		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089114G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1284C>T	10.37:g.43089114G>A			Somatic				ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.L316L|ZNF33B_uc001jad.3_Intron	p.L428L	NM_006955	NP_008886	WXS	Illumina GAIIx	Phase_I	Q06732	ZN33B_HUMAN			4	1399	-			428					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1284C>T	CCDS7198.1																																																																																				0.418	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		65	96	0	0	0	1	0	65	96					A	43089114	G	A	43089114	2	1	139	1	0	0	0	0	0	0	0	1	17852	1277	45	2		2	ZNF33B	10	43089114	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	15668252	43089114	92445633	14	2424											
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61K	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	369	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		73	118	0	0	0	1	0	73	118					T	533875	G	T	533875	3	4	139	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		533875	134472641	15	2425											
KLHL35	283212	broad.mit.edu	37	11	75134897	75134897	+	Missense_Mutation	SNP	G	G	A	rs373616347		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:75134897G>A	ENST00000539798.1	-	5	1401	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	KLHL35_ENST00000376292.4_Missense_Mutation_p.R248W	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	468										lung(2)|stomach(1)	3						AGGCTCCACCGGTCCTCCTTG	0.612																																					Colon(77;683 1691 18820 23811)	uc001owm.2																			0				lung(2)|stomach(1)	3						c.(1402-1404)Cgg>Tgg		Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.		G	TRP/ARG	1,4059		0,1,2029	42	49	46		1402	3.0	0.9	11		46	0,8382		0,0,4191	no	missense	KLHL35	NM_001039548.2	101	0,1,6220	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging	468/584	75134897	1,12441	2030	4191	6221	SO:0001583	missense	283212							g.chr11:75134897G>A		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"Kelch-like", "BTB/POZ domain containing"	26597	protein-coding gene	gene with protein product			"kelch-like 35 (Drosophila)"				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1402C>T	11.37:g.75134897G>A	ENSP00000438526:p.Arg468Trp		Somatic					p.R468W	NM_001039548	NP_001034637	WXS	Illumina GAIIx	Phase_I	Q6PF15	KLH35_HUMAN			4	1402	-			248					A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	ENST00000539798.1	37	c.1402C>T	CCDS44685.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979734	0.74360	2.46E-4	0.0	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.78481	-1.18;-1.18	5.05	3.0	0.34707	Kelch-type beta propeller (1);	1.363190	0.04929	N	0.456394	D	0.84088	0.5395	M	0.73430	2.235	0.25828	N	0.984205	P	0.50066	0.931	P	0.51453	0.67	T	0.69269	-0.5189	10	0.87932	D	0	.	10.376	0.44081	0.0:0.0:0.5192:0.4808	.	248	Q6PF15	KLH35_HUMAN	W	248;468	ENSP00000365469:R248W;ENSP00000438526:R468W	ENSP00000365469:R248W	R	-	1	2	KLHL35	74812545	0.801000	0.28930	0.931000	0.37212	0.953000	0.61014	1.136000	0.31467	1.328000	0.45358	0.603000	0.83216	CGG		0.612	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		3	28	0	0	0	1	0	3	28					A	75134897	G	A	75134897	3	1	139	1	0	0	0	0	1	0	0	0	8388	1115	39	1	357	1	KLHL35	11	75134897	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	74601022	75134897	59871619	16	2426											
FAM76B	143684	broad.mit.edu	37	11	95522617	95522617	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr11:95522617C>G	ENST00000358780.5	-	1	338	c.26G>C	c.(25-27)tGc>tCc	p.C9S	CEP57_ENST00000325542.5_5'Flank|CEP57_ENST00000537677.1_5'Flank|FAM76B_ENST00000538047.1_5'Flank|CEP57_ENST00000538658.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.C9S|CEP57_ENST00000325486.5_5'Flank	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	9						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACACTTGGTGCAGGCGTACAG	0.711																																						uc001pfn.2																			0				breast(1)|kidney(1)|lung(1)	3						c.(25-27)tGc>tCc		Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.							21	30	27					11																	95522617		1964	4175	6139	SO:0001583	missense	143684							g.chr11:95522617C>G		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.26G>C	11.37:g.95522617C>G	ENSP00000351631:p.Cys9Ser		Somatic				CEP57_uc001pfo.2_5'Flank|CEP57_uc009ywn.2_5'Flank|CEP57_uc010ruh.2_5'Flank|CEP57_uc001pfp.2_5'Flank|CEP57_uc001pfq.2_5'Flank|CEP57_uc001pfr.2_5'Flank|FAM76B_uc001pfm.2_Non-coding_Transcript	p.C9S	NM_144664	NP_653265	WXS	Illumina GAIIx	Phase_I	Q5HYJ3	FA76B_HUMAN			0	338	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	9					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.26G>C	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102929	0.94245	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82024	-0.0662	9	0.87932	D	0	-0.2189	18.1911	0.89807	0.0:1.0:0.0:0.0	.	9	Q5HYJ3	FA76B_HUMAN	S	9	.	ENSP00000351631:C9S	C	-	2	0	FAM76B	95162265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.309000	0.78937	2.294000	0.77228	0.561000	0.74099	TGC		0.711	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		5	24	0	0	0	1	0	5	24					G	95522617	C	G	95522617	3	3	139	1	0	0	0	0	1	0	0	0	5625	710	25	4	1033	4	FAM76B	11	95522617	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	20387720	95522617	39483899	17	2427											
TRHDE	29953	broad.mit.edu	37	12	72667128	72667128	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr12:72667128G>A	ENST00000261180.4	+	1	666	c.570G>A	c.(568-570)gaG>gaA	p.E190E	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	190					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGCGGTGGAGAAAGTGCAGC	0.612																																						uc001sxa.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(568-570)gaG>gaA		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							45	49	48					12																	72667128		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667128G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.570G>A	12.37:g.72667128G>A			Somatic				LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	p.E190E	NM_013381	NP_037513	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			0	600	+			190					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.570G>A	CCDS9004.1																																																																																				0.612	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		4	105	0	0	0	1	0	4	105					A	72667128	G	A	72667128	2	1	139	1	0	0	0	0	0	0	0	1	16476	933	33	2		2	TRHDE	12	72667128	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		72667128	61184767	18	2428											
ZNF839	55778	broad.mit.edu	37	14	102807889	102807890	+	Frame_Shift_Del	DEL	GG	GG	-	rs567097366		TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:102807889_102807890delGG	ENST00000558850.1	+	8	2159_2160	c.1809_1810delGG	c.(1807-1812)caggtgfs	p.QV603fs	ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.QV603fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.QV719fs|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.QV605fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	603							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						CCCAGGCACAGGTGGCAGCGTT	0.589																																						uc010awk.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(2155-2160)caggtgfs		Homo sapiens zinc finger protein 839 (ZNF839), mRNA.																																				SO:0001589	frameshift_variant	55778					intracellular	zinc ion binding	g.chr14:102807889_102807890delGG	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1809_1810delGG	14.37:g.102807889_102807890delGG	ENSP00000453363:p.Gln603fs		Somatic				ZNF839_uc001ylo.2_Frame_Shift_Del_p.Q603fs|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Frame_Shift_Del_p.Q528fs|ZNF839_uc001yls.2_Frame_Shift_Del_p.Q220fs|ZNF839_uc001ylt.2_Frame_Shift_Del_p.Q193fs	p.Q719fs	NM_018335	NP_060805	WXS	Illumina GAIIx	Phase_I	A8K0R7	ZN839_HUMAN			7	2164_2165	+			603					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	ENST00000558850.1	37	c.2157_2158delGG	CCDS58336.1																																																																																				0.589	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		7	11						7	11	---	---	---	---	-	102807890	GG	-	102807889	7	5	139	1	0	1	0	1	0	0	0	0	18185	991	35	0	2187	0	ZNF839	14	102807889	Frame_Shift_Del	DEL	GG	TCGA-E3-A3DZ-01A-11D-A20C-08		102807889	4541651	19	2429											
AKT1	207	broad.mit.edu	37	14	105242100	105242100	+	Silent	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr14:105242100G>A	ENST00000554581.1	-	4	1804	c.324C>T	c.(322-324)gaC>gaT	p.D108D	AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000554848.1_Silent_p.D108D|AKT1_ENST00000407796.2_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000349310.3_Silent_p.D108D			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCTTGAGGCCGTCAGCCACAG	0.617		1	Mis		"breast, colorectal, ovarian, NSCLC"																																	uc001ypk.3		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(322-324)gaC>gaT		Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						118	78	92					14																	105242100		2203	4300	6503	SO:0001819	synonymous_variant	207				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105242100G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.324C>T	14.37:g.105242100G>A			Somatic				AKT1_uc001ypl.3_Silent_p.D108D|AKT1_uc010axa.3_Silent_p.D108D|AKT1_uc001ypm.3_Silent_p.D108D|AKT1_uc001ypn.3_Silent_p.D108D|AKT1_uc010tyk.2_Silent_p.D46D	p.D108D	NM_005163	NP_005154	WXS	Illumina GAIIx	Phase_I	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	4	878	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	108			PH.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.324C>T	CCDS9994.1																																																																																				0.617	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		4	117	0	0	0	1	0	4	117					A	105242100	G	A	105242100	2	1	139	1	0	0	0	0	0	0	0	1	478	1136	40	1		1	AKT1	14	105242100	Silent	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	2434211	105242100	2107440	20	2430											
TMEM62	80021	broad.mit.edu	37	15	43446993	43446995	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:43446993_43446995delCAG	ENST00000260403.2	+	9	1425_1427	c.1146_1148delCAG	c.(1144-1149)tacagt>tat	p.S384del		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	384						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTAGAAACTACAGTAGTGGGACA	0.379																																						uc001zqr.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1144-1149)tacagt>tat		Homo sapiens transmembrane protein 62 (TMEM62), mRNA.																																				SO:0001651	inframe_deletion	80021					integral to membrane		g.chr15:43446993_43446995delCAG	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1146_1148delCAG	15.37:g.43446993_43446995delCAG	ENSP00000260403:p.Ser384del		Somatic				TMEM62_uc010bda.3_In_Frame_Del_p.S254del	p.S384del	NM_024956	NP_079232	WXS	Illumina GAIIx	Phase_I	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	8	1425_1427	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	384					Q6I9Y5|Q9H5J6	In_Frame_Del	DEL	ENST00000260403.2	37	c.1146_1148delCAG	CCDS32210.1																																																																																				0.379	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		15	29						15	29	---	---	---	---	-	43446995	CAG	-	43446993	7	5	139	1	0	1	0	1	0	0	0	0	16186	489	17	0	1180	0	TMEM62	15	43446993	In_Frame_Del	DEL	CAG	TCGA-E3-A3DZ-01A-11D-A20C-08		43446993	59084399	21	2431											
HERC1	8925	broad.mit.edu	37	15	63901361	63901361	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr15:63901361delG	ENST00000443617.2	-	78	14592	c.14505delC	c.(14503-14505)aacfs	p.N4836fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4836	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCGGCAGTTGTTGATGGCAT	0.602																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14503-14505)aacfs		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							68	74	72					15																	63901361		2133	4226	6359	SO:0001589	frameshift_variant	8925				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity	g.chr15:63901361delG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14505delC	15.37:g.63901361delG	ENSP00000390158:p.Asn4836fs		Somatic				HERC1_uc002amo.3_Non-coding_Transcript	p.N4835fs	NM_003922	NP_003913	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			77	14653	-			4835			HECT.		Q8IW65	Frame_Shift_Del	DEL	ENST00000443617.2	37	c.14505delC	CCDS45277.1																																																																																				0.602	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		20	24						20	24	---	---	---	---	-	63901361	G	-	63901361	7	5	139	1	0	1	0	1	0	0	0	0	7057	1368	48	0	84	0	HERC1	15	63901361	Frame_Shift_Del	DEL	G	TCGA-E3-A3DZ-01A-11D-A20C-08	20454368	63901361	38630031	22	2432											
CREB3L3	84699	broad.mit.edu	37	19	4157169	4157169	+	Missense_Mutation	SNP	G	G	A	rs145839480	byFrequency	TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:4157169G>A	ENST00000078445.2	+	3	481	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	CREB3L3_ENST00000595923.1_Missense_Mutation_p.G111S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G102S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	112					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCCGCCGGCTGCCATCC	0.657													G|||	5	0.000998403	0.0038	0	5008	,	,		14040	0		0	False		,,,				2504	0					uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(334-336)Ggc>Agc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.		G	SER/GLY	46,4360	49.6+/-84.7	0,46,2157	54	56	55		334	-2.5	0.0	19	dbSNP_134	55	0,8600		0,0,4300	yes	missense	CREB3L3	NM_032607.1	56	0,46,6457	AA,AG,GG		0.0,1.044,0.3537	benign	112/462	4157169	46,12960	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4157169G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.334G>A	19.37:g.4157169G>A	ENSP00000078445:p.Gly112Ser		Somatic				CREB3L3_uc002lzm.3_Missense_Mutation_p.G102S|CREB3L3_uc010xib.2_Missense_Mutation_p.G103S|CREB3L3_uc010xic.2_Missense_Mutation_p.G103S	p.G112S	NM_032607	NP_115996	WXS	Illumina GAIIx	Phase_I	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	2	450	+			112					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.334G>A	CCDS12121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.388	0.439782	0.12104	0.01044	0.0	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.85773	-2.03;-2.03	4.87	-2.5	0.06384	.	0.490824	0.22419	N	0.060311	T	0.59918	0.2229	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.32350	0.366;0.326;0.265;0.173	B;B;B;B	0.21708	0.036;0.022;0.03;0.013	T	0.57808	-0.7747	10	0.08599	T	0.76	-19.8742	8.6355	0.33945	0.5578:0.0:0.4422:0.0	.	112;112;111;112	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	112;112;102	ENSP00000078445:G112S;ENSP00000252587:G102S	ENSP00000078445:G112S	G	+	1	0	CREB3L3	4108169	0.000000	0.05858	0.009000	0.14445	0.010000	0.07245	-0.738000	0.04871	-0.381000	0.07882	0.430000	0.28490	GGC		0.657	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		6	124	0	0	0	1	0	6	124					A	4157169	G	A	4157169	3	1	139	1	0	0	0	0	1	0	0	0	3858	1116	39	1	344	1	CREB3L3	19	4157169	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		4157169	54971814	23	2433											
DNMT1	1786	broad.mit.edu	37	19	10249155	10249155	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:10249155C>T	ENST00000340748.4	-	34	4262	c.4027G>A	c.(4027-4029)Gtg>Atg	p.V1343M	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.V1343M|DNMT1_ENST00000359526.4_Missense_Mutation_p.V1359M			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1343	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCCACCACCACGCTCAGCTGG	0.642																																						uc010xlc.2																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(4075-4077)Gtg>Atg		Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA.	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						83	73	77					19																	10249155		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10249155C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4027G>A	19.37:g.10249155C>T	ENSP00000345739:p.Val1343Met		Somatic				DNMT1_uc002mnf.3_Missense_Mutation_p.V267M|DNMT1_uc002mng.3_Missense_Mutation_p.V1343M|DNMT1_uc002mnh.3_Missense_Mutation_p.V1238M|DNMT1_uc010xld.2_Missense_Mutation_p.V1343M	p.V1359M	NM_001130823	NP_001124295	WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		34	4255	-			1343			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.4075G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934194	0.92458	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85171	-1.95;-1.95;-1.95	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92773	0.7702	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.93102	0.6509	10	0.62326	D	0.03	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	1343;1359;1343	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	M	1359;1343;1343;1211	ENSP00000352516:V1359M;ENSP00000440457:V1343M;ENSP00000345739:V1343M	ENSP00000345739:V1343M	V	-	1	0	DNMT1	10110155	0.997000	0.39634	0.970000	0.41538	0.818000	0.46254	5.716000	0.68437	2.607000	0.88179	0.655000	0.94253	GTG		0.642	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	175	0	0	0	1	0	5	175					T	10249155	C	T	10249155	3	4	139	1	0	0	0	0	1	0	0	0	4675	536	19	1	851	1	DNMT1	19	10249155	Missense_Mutation	SNP	C	TCGA-E3-A3DZ-01A-11D-A20C-08	6091986	10249155	48879828	24	2434											
ZNF507	22847	broad.mit.edu	37	19	32844893	32844893	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:32844893G>A	ENST00000311921.4	+	2	1349	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N	ZNF507_ENST00000355898.5_Missense_Mutation_p.S386N|ZNF507_ENST00000544431.1_Missense_Mutation_p.S386N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	386					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATCATCAGCAGCAGCCCC	0.458																																						uc002nte.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1156-1158)aGc>aAc		Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.							56	55	55					19																	32844893		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844893G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1157G>A	19.37:g.32844893G>A	ENSP00000312277:p.Ser386Asn		Somatic				ZNF507_uc002ntc.2_Missense_Mutation_p.S386N|ZNF507_uc010xrn.1_Missense_Mutation_p.S386N|ZNF507_uc002ntd.3_Missense_Mutation_p.S386N	p.S386N	NM_001136156	NP_055725	WXS	Illumina GAIIx	Phase_I	Q8TCN5	ZN507_HUMAN			2	1429	+	Esophageal squamous(110;0.162)		386					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1157G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.086407	0.01873	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.06294	3.63;3.63;3.32	5.73	3.26	0.37387	.	0.191053	0.64402	N	0.000003	T	0.04407	0.0121	N	0.17474	0.49	0.30175	N	0.800927	B;B	0.12013	0.003;0.005	B;B	0.16722	0.004;0.016	T	0.21245	-1.0251	10	0.21540	T	0.41	-11.4942	12.0498	0.53501	0.2319:0.0:0.7681:0.0	.	386;386	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	N	386	ENSP00000348162:S386N;ENSP00000312277:S386N;ENSP00000441549:S386N	ENSP00000312277:S386N	S	+	2	0	ZNF507	37536733	1.000000	0.71417	0.986000	0.45419	0.189000	0.23516	1.580000	0.36547	1.409000	0.46915	0.655000	0.94253	AGC		0.458	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		3	46	0	0	0	1	0	3	46					A	32844893	G	A	32844893	3	1	139	1	0	0	0	0	1	0	0	0	17950	971	34	2	1159	2	ZNF507	19	32844893	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	22595738	32844893	26284090	25	2435											
ZNF211	10520	broad.mit.edu	37	19	58153415	58153415	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chr19:58153415A>G	ENST00000347302.3	+	3	1740	c.1561A>G	c.(1561-1563)Agt>Ggt	p.S521G	ZNF211_ENST00000420680.1_Missense_Mutation_p.S525G|ZNF211_ENST00000254182.7_Missense_Mutation_p.S512G|ZNF211_ENST00000391703.3_Missense_Mutation_p.S460G|ZNF211_ENST00000544273.1_Missense_Mutation_p.S533G|ZNF211_ENST00000240731.4_Missense_Mutation_p.S534G|ZNF211_ENST00000299871.5_Missense_Mutation_p.S586G|ZNF211_ENST00000541801.1_Missense_Mutation_p.S512G	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	521					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTAGCCAAAGTTCTAGCCT	0.438																																						uc002qpr.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1753-1755)Agt>Ggt		Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.							109	105	107					19																	58153415		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153415A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1561A>G	19.37:g.58153415A>G	ENSP00000339562:p.Ser521Gly		Somatic				ZNF211_uc010yhb.1_Missense_Mutation_p.S525G|ZNF211_uc002qpp.2_Missense_Mutation_p.S534G|ZNF211_uc002qpq.2_Missense_Mutation_p.S521G|ZNF211_uc002qpt.2_Missense_Mutation_p.S533G|ZNF211_uc010yhc.1_Missense_Mutation_p.S533G|ZNF211_uc010yhe.1_Missense_Mutation_p.S512G|ZNF211_uc010yhd.1_Missense_Mutation_p.S460G	p.S585G	NM_006385	NP_006376	WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	2056	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	521					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1753A>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.39|15.39	2.818872|2.818872	0.50633|0.50633	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T;T;T;T	.|0.01192	.|5.2;5.2;5.2;5.2;5.2;5.2;5.2;5.2	3.23|3.23	0.979|0.979	0.19745|0.19745	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.01222|0.01222	0.0040|0.0040	L|L	0.56396|0.56396	1.775|1.775	0.09310|0.09310	N|N	1|1	.|B;B;P;B;B;B	.|0.44429	.|0.035;0.101;0.835;0.055;0.031;0.031	.|B;B;B;B;B;B	.|0.35813	.|0.01;0.068;0.211;0.02;0.017;0.017	T|T	0.49418|0.49418	-0.8942|-0.8942	5|9	.|0.24483	.|T	.|0.36	.|.	4.8642|4.8642	0.13600|0.13600	0.526:0.3663:0.1077:0.0|0.526:0.3663:0.1077:0.0	.|.	.|525;533;586;512;521;534	.|Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.|.;.;.;.;ZN211_HUMAN;.	R|G	524|525;521;512;460;512;586;533;534	.|ENSP00000399193:S525G;ENSP00000339562:S521G;ENSP00000254182:S512G;ENSP00000375584:S460G;ENSP00000442601:S512G;ENSP00000299871:S586G;ENSP00000441386:S533G;ENSP00000240731:S534G	.|ENSP00000240731:S534G	K|S	+|+	2|1	0|0	ZNF211|ZNF211	62845227|62845227	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.950000|0.950000	0.60333|0.60333	-0.310000|-0.310000	0.08135|0.08135	0.016000|0.016000	0.14998|0.14998	0.477000|0.477000	0.44152|0.44152	AAG|AGT		0.438	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			6	156	0	0	0	1	0	6	156					G	58153415	A	G	58153415	3	3	139	1	0	0	0	0	1	0	0	0	17764	72	3	3	1614	3	ZNF211	19	58153415	Missense_Mutation	SNP	A	TCGA-E3-A3DZ-01A-11D-A20C-08	25308522	58153415	975568	26	2436											
OTUD6A	139562	broad.mit.edu	37	X	69283005	69283005	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:69283005G>T	ENST00000338352.2	+	1	665	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	211	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.V211M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CGACAACATCGTGCGCACCAC	0.612																																						uc004dxu.1																			1	Substitution - Missense(1)	p.V211M(2)	endometrium(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(631-633)Gtg>Ttg		Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.							71	64	66					X																	69283005		2203	4300	6503	SO:0001583	missense	139562							g.chrX:69283005G>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.631G>T	X.37:g.69283005G>T	ENSP00000339389:p.Val211Leu		Somatic					p.V211L	NM_207320	NP_997203	WXS	Illumina GAIIx	Phase_I	Q7L8S5	OTU6A_HUMAN			0	665	+			211			OTU.		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.631G>T	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082526	0.55861	.	.	ENSG00000189401	ENST00000338352	T	0.39592	1.07	4.42	3.56	0.40772	Ovarian tumour, otubain (2);	0.187662	0.45867	D	0.000325	T	0.41858	0.1177	L	0.31926	0.97	0.09310	N	1	P	0.48640	0.913	P	0.54590	0.756	T	0.15037	-1.0451	10	0.28530	T	0.3	.	9.5808	0.39486	0.1056:0.0:0.8944:0.0	.	211	Q7L8S5	OTU6A_HUMAN	L	211	ENSP00000339389:V211L	ENSP00000339389:V211L	V	+	1	0	OTUD6A	69199730	0.127000	0.22367	0.002000	0.10522	0.002000	0.02628	1.454000	0.35178	1.220000	0.43490	0.600000	0.82982	GTG		0.612	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		37	55	0	0	0	1	0	37	55					T	69283005	G	T	69283005	3	4	139	1	0	0	0	0	1	0	0	0	11316	1145	40	4	633	4	OTUD6A	23	69283005	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08		69283005	85987555	27	2437											
MID2	11043	broad.mit.edu	37	X	107167660	107167660	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:107167660G>A	ENST00000262843.6	+	8	2071	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	MID2_ENST00000443968.2_Missense_Mutation_p.R478H|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	508	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|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 localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGCGGGACTCGCTACATCTTC	0.458																																						uc004enl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1522-1524)cGc>cAc		Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.							92	72	79					X																	107167660		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107167660G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1523G>A	X.37:g.107167660G>A	ENSP00000262843:p.Arg508His		Somatic				MID2_uc004enk.3_Missense_Mutation_p.R478H	p.R508H	NM_012216	NP_036348	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			7	2096	+			508			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1523G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758522	0.89843	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.57436	1.05;0.4	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.19112	0.55	0.58432	D	0.999993	D;D	0.69078	0.997;0.977	P;P	0.56088	0.791;0.651	T	0.56177	-0.8022	10	0.51188	T	0.08	.	16.6313	0.85033	0.0:0.0:1.0:0.0	.	508;478	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	H	508;478	ENSP00000262843:R508H;ENSP00000413976:R478H	ENSP00000262843:R508H	R	+	2	0	MID2	107054316	0.975000	0.34042	0.998000	0.56505	0.986000	0.74619	3.792000	0.55476	2.536000	0.85505	0.600000	0.82982	CGC		0.458	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		6	112	0	0	0	1	0	6	112					A	107167660	G	A	107167660	3	1	139	1	0	0	0	0	1	0	0	0	9578	1087	38	1	1553	1	MID2	23	107167660	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	37884655	107167660	48102900	28	2438											
ATP1B4	23439	broad.mit.edu	37	X	119500552	119500552	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DZ-01A-11D-A20C-08	TCGA-E3-A3DZ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6984bfc-843f-455c-8ac6-2a07a54ec978	881caa69-f9c1-409d-aed1-2f1646c6828e	g.chrX:119500552G>A	ENST00000218008.3	+	2	293	c.236G>A	c.(235-237)gGc>gAc	p.G79D	ATP1B4_ENST00000361319.3_Missense_Mutation_p.G79D|ATP1B4_ENST00000539306.1_Missense_Mutation_p.G79D	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	79					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						CAGCCAACAGGCAATGCCTGG	0.527																																						uc004esr.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.(235-237)gGc>gAc		Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.							108	90	96					X																	119500552		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:119500552G>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.236G>A	X.37:g.119500552G>A	ENSP00000218008:p.Gly79Asp		Somatic				ATP1B4_uc004esq.3_Missense_Mutation_p.G79D|ATP1B4_uc011mtx.2_Intron|ATP1B4_uc011mty.2_Missense_Mutation_p.G79D	p.G79D	NM_001142447	NP_001135919	WXS	Illumina GAIIx	Phase_I	Q9UN42	AT1B4_HUMAN			1	320	+			79					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.236G>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020225	0.07634	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.24151	1.96;1.96;1.87	5.08	4.22	0.49857	.	0.647149	0.16749	N	0.201138	T	0.11793	0.0287	N	0.08118	0	0.35179	D	0.772304	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.002	T	0.18335	-1.0340	10	0.19590	T	0.45	-3.5794	7.5441	0.27757	0.2046:0.0:0.7954:0.0	.	79;79;79	B7ZKW0;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	D	79	ENSP00000218008:G79D;ENSP00000355346:G79D;ENSP00000443334:G79D	ENSP00000218008:G79D	G	+	2	0	ATP1B4	119384580	1.000000	0.71417	0.997000	0.53966	0.151000	0.21798	3.323000	0.52014	1.202000	0.43218	0.589000	0.80489	GGC		0.527	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		42	48	0	0	0	1	0	42	48					A	119500552	G	A	119500552	3	1	139	1	0	0	0	0	1	0	0	0	1135	1203	42	2	242	2	ATP1B4	23	119500552	Missense_Mutation	SNP	G	TCGA-E3-A3DZ-01A-11D-A20C-08	12332892	119500552	35770008	29	2439											
CASZ1	54897	broad.mit.edu	37	1	10714607	10714607	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr1:10714607C>T	ENST00000377022.3	-	10	2024	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.M569I	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	569					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCTCGTGGGTCATCACGTCAG	0.597																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1705-1707)atG>atA		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.							251	227	236					1																	10714607		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714607C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1707G>A	1.37:g.10714607C>T	ENSP00000366221:p.Met569Ile		Somatic				CASZ1_uc001arp.1_Missense_Mutation_p.M569I|CASZ1_uc009vmx.2_Missense_Mutation_p.M593I	p.M569I	NM_001079843	NP_001073312	WXS	Illumina GAIIx	Phase_I	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	2027	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	569					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1707G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280048	0.80692	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	N	0.22421	0.69	0.54753	D	0.999989	B;P;P	0.46952	0.335;0.669;0.887	B;B;P	0.62184	0.188;0.259;0.899	T	0.66126	-0.6001	9	0.49607	T	0.09	-28.3319	18.6257	0.91336	0.0:1.0:0.0:0.0	.	593;569;569	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	569	.	ENSP00000339445:M569I	M	-	3	0	CASZ1	10637194	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.424000	0.80242	2.478000	0.83669	0.561000	0.74099	ATG		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		6	286	0	0	0	1	0	6	286					T	10714607	C	T	10714607	3	4	140	1	0	0	0	0	1	0	0	0	2685	826	29	2	3624	2	CASZ1	1	10714607	Missense_Mutation	SNP	C	TCGA-E3-A3E0-01A-11D-A20C-08		10714607	238536014	1	2440											
CPSF3	51692	broad.mit.edu	37	2	9570993	9570993	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:9570993G>A	ENST00000238112.3	+	4	531	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CPSF3_ENST00000460593.1_Missense_Mutation_p.D72N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	109					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCTTCTTTCTGATTATGTCAA	0.348																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(325-327)Gat>Aat		Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.							94	99	98					2																	9570993		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding	g.chr2:9570993G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.325G>A	2.37:g.9570993G>A	ENSP00000238112:p.Asp109Asn		Somatic				CPSF3_uc010ewx.1_Missense_Mutation_p.D109N|CPSF3_uc002qzp.1_Missense_Mutation_p.D72N	p.D109N	NM_016207	NP_057291	WXS	Illumina GAIIx	Phase_I	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	3	360	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	109					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.325G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037056	0.93630	.	.	ENSG00000119203	ENST00000238112;ENST00000475482;ENST00000427001;ENST00000460593	T;T;T	0.60672	0.17;0.17;0.17	5.65	5.65	0.86999	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.981	D;D	0.77004	0.989;0.966	D	0.87595	0.2493	10	0.72032	D	0.01	-6.0454	19.7341	0.96195	0.0:0.0:1.0:0.0	.	109;109	E7ER23;Q9UKF6	.;CPSF3_HUMAN	N	109;72;109;72	ENSP00000238112:D109N;ENSP00000419744:D72N;ENSP00000418957:D72N	ENSP00000238112:D109N	D	+	1	0	CPSF3	9488444	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	9.759000	0.98931	2.672000	0.90937	0.650000	0.86243	GAT		0.348	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		20	46	0	0	0	1	0	20	46					A	9570993	G	A	9570993	3	1	140	1	0	0	0	0	1	0	0	0	3826	1290	45	2	339	2	CPSF3	2	9570993	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		9570993	233628380	2	2441											
BCL11A	53335	broad.mit.edu	37	2	60688216	60688216	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr2:60688216C>T	ENST00000335712.6	-	4	2058	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	BCL11A_ENST00000537768.1_Missense_Mutation_p.E280K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.E577K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E577K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E611K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	611					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGGCCGACTCGCCCGGGGAG	0.662			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1831-1833)Gag>Aag		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							13	17	15					2																	60688216		2139	4227	6366	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688216C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1831G>A	2.37:g.60688216C>T	ENSP00000338774:p.Glu611Lys		Somatic				BCL11A_uc002sab.3_Missense_Mutation_p.E611K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E280K|BCL11A_uc010ypj.2_Missense_Mutation_p.E577K|BCL11A_uc002sad.1_Missense_Mutation_p.E459K|BCL11A_uc002saf.1_Missense_Mutation_p.E577K	p.E611K	NM_022893	NP_075044	WXS	Illumina GAIIx	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	2059	-			611					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1831G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110620	0.56398	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09630	2.96;3.23;3.13;3.25;3.18	6.17	6.17	0.99709	.	0.329559	0.31809	N	0.007030	T	0.25494	0.0620	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.993;0.988;0.979;0.994	P;B;P;B;P	0.56788	0.806;0.439;0.548;0.342;0.738	T	0.00699	-1.1604	10	0.15952	T	0.53	-3.0403	20.8794	0.99867	0.0:1.0:0.0:0.0	.	577;280;577;611;611	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	K	611;636;577;280;611;577	ENSP00000349300:E611K;ENSP00000438303:E577K;ENSP00000443712:E280K;ENSP00000338774:E611K;ENSP00000351307:E577K	ENSP00000338774:E611K	E	-	1	0	BCL11A	60541720	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.813000	0.86123	2.941000	0.99782	0.655000	0.94253	GAG		0.662	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		16	29	0	0	0	1	0	16	29					T	60688216	C	T	60688216	3	4	140	1	0	0	0	0	1	0	0	0	1363	893	31	1	786	1	BCL11A	2	60688216	Missense_Mutation	SNP	C	TCGA-E3-A3E0-01A-11D-A20C-08	51117223	60688216	182511157	3	2442											
MUC13	56667	broad.mit.edu	37	3	124629312	124629312	+	Silent	SNP	G	G	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr3:124629312G>T	ENST00000311075.3	-	10	1322	c.1284C>A	c.(1282-1284)atC>atA	p.I428I		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	429					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAATGCCAGCGATGGTGCCCA	0.403																																						uc003ehq.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1282-1284)atC>atA		Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.							82	77	78					3																	124629312		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124629312G>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1284C>A	3.37:g.124629312G>T			Somatic					p.I428I	NM_033049	NP_149038	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			9	1323	-			428					Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.1284C>A																																																																																					0.403	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		22	103	0	0	0	1	0	22	103					T	124629312	G	T	124629312	2	4	140	1	0	0	0	0	0	0	0	1	9971	1048	37	4		4	MUC13	3	124629312	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		124629312	73393118	4	2443											
RBM47	54502	broad.mit.edu	37	4	40440487	40440487	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr4:40440487G>A	ENST00000381793.2	-	3	820	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	RBM47_ENST00000514014.1_Missense_Mutation_p.L104F|RBM47_ENST00000381795.6_Missense_Mutation_p.L142F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.L142F|RBM47_ENST00000295971.7_Missense_Mutation_p.L142F			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	142	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CACACGCCGAGCAGGCGGCCC	0.622																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(424-426)Ctc>Ttc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							43	38	39					4																	40440487		2203	4300	6503	SO:0001583	missense	54502					nucleus	RNA binding|nucleotide binding	g.chr4:40440487G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.424C>T	4.37:g.40440487G>A	ENSP00000371212:p.Leu142Phe		Somatic				RBM47_uc003gvd.2_Missense_Mutation_p.L142F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.L104F|RBM47_uc003gvg.1_Missense_Mutation_p.L142F	p.L142F	NM_001098634	NP_001092104	WXS	Illumina GAIIx	Phase_I	A0AV96	RBM47_HUMAN			3	1134	-			142			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.424C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414495	0.42817	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414	T;T;T;T;T;T;T;T	0.57107	2.97;0.42;2.97;0.42;0.42;2.97;0.42;0.42	5.78	5.78	0.91487	RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.92219	3.285	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.969	T	0.81239	-0.1023	10	0.87932	D	0	-21.5585	10.4174	0.44329	0.1444:0.0:0.8556:0.0	.	142;142	A0AV96-2;A0AV96	.;RBM47_HUMAN	F	142;142;142;142;104;142;142;142	ENSP00000320108:L142F;ENSP00000371212:L142F;ENSP00000371214:L142F;ENSP00000295971:L142F;ENSP00000423243:L104F;ENSP00000422564:L142F;ENSP00000421589:L142F;ENSP00000423527:L142F	ENSP00000295971:L142F	L	-	1	0	RBM47	40135244	1.000000	0.71417	0.999000	0.59377	0.095000	0.18619	4.255000	0.58804	2.740000	0.93945	0.313000	0.20887	CTC		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		3	63	0	0	0	1	0	3	63					A	40440487	G	A	40440487	3	1	140	1	0	0	0	0	1	0	0	0	13141	971	34	2	1373	2	RBM47	4	40440487	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		40440487	150713789	5	2444											
TRIM36	55521	broad.mit.edu	37	5	114482788	114482788	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:114482788G>T	ENST00000282369.3	-	3	723	c.602C>A	c.(601-603)cCa>cAa	p.P201Q	TRIM36_ENST00000513154.1_Missense_Mutation_p.P189Q|TRIM36-IT1_ENST00000503723.1_RNA|TRIM36_ENST00000514154.1_Missense_Mutation_p.P46Q|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	201					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTTAGTAGTTGGACCAACATA	0.328																																						uc003kqs.3																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(601-603)cCa>cAa		Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.							81	82	81					5																	114482788		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114482788G>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.602C>A	5.37:g.114482788G>T	ENSP00000282369:p.Pro201Gln		Somatic				TRIM36_uc011cwc.2_Missense_Mutation_p.P189Q|TRIM36_uc003kqt.3_Missense_Mutation_p.P46Q	p.P201Q	NM_018700	NP_061170	WXS	Illumina GAIIx	Phase_I	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	1111	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	201					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.602C>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536008	0.85812	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	D;D;T	0.87571	-2.27;-2.27;-0.53	5.49	5.49	0.81192	.	0.196250	0.56097	D	0.000035	D	0.94647	0.8274	M	0.90309	3.105	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.65684	0.843;0.937	D	0.95351	0.8447	10	0.87932	D	0	.	19.3708	0.94484	0.0:0.0:1.0:0.0	.	189;201	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	201;189;46	ENSP00000282369:P201Q;ENSP00000423934:P189Q;ENSP00000424259:P46Q	ENSP00000282369:P201Q	P	-	2	0	TRIM36	114510687	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.338000	0.96553	2.571000	0.86741	0.467000	0.42956	CCA		0.328	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		15	29	0	0	0	1	0	15	29					T	114482788	G	T	114482788	3	4	140	1	0	0	0	0	1	0	0	0	16507	1348	47	4	1616	4	TRIM36	5	114482788	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		114482788	66432472	6	2445											
RAPGEF6	51735	broad.mit.edu	37	5	130769300	130769300	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr5:130769300T>A	ENST00000509018.1	-	25	4002	c.3797A>T	c.(3796-3798)cAt>cTt	p.H1266L	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1274L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1274L|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1279L|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1316L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1266	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATCTCACTATGGCTGGAGTC	0.448																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvp.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3946-3948)cAt>cTt		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.							116	106	109					5																	130769300		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	g.chr5:130769300T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3797A>T	5.37:g.130769300T>A	ENSP00000421684:p.His1266Leu		Somatic				RAPGEF6_uc003kvo.2_Missense_Mutation_p.H1279L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.H1274L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.H1274L|RAPGEF6_uc003kvn.2_Missense_Mutation_p.H1266L|RAPGEF6_uc003kvm.2_Missense_Mutation_p.H189L	p.H1316L	NM_016340	NP_057424	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	25	4089	-			1266			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.3947A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086001	0.94100	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.29142	1.68;1.58;1.59;1.68;1.78	5.83	5.83	0.93111	.	0.140369	0.64402	D	0.000005	T	0.52725	0.1752	M	0.68952	2.095	0.80722	D	1	D;P;P;D;P	0.60160	0.978;0.599;0.599;0.987;0.599	P;B;B;P;B	0.62813	0.809;0.284;0.284;0.907;0.284	T	0.55231	-0.8173	10	0.72032	D	0.01	.	16.2141	0.82191	0.0:0.0:0.0:1.0	.	1274;1274;1316;1279;1266	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	L	1266;1279;1274;1274;1279;1316	ENSP00000421684:H1266L;ENSP00000309298:H1279L;ENSP00000426081:H1274L;ENSP00000296859:H1274L;ENSP00000426948:H1316L	ENSP00000426948:H1316L	H	-	2	0	RAPGEF6;FNIP1	130797199	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.160000	0.77495	2.224000	0.72417	0.528000	0.53228	CAT		0.448	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		32	62	0	0	0	1	0	32	62					A	130769300	T	A	130769300	3	1	140	1	0	0	0	0	1	0	0	0	13048	1464	51	5	1024	5	RAPGEF6	5	130769300	Missense_Mutation	SNP	T	TCGA-E3-A3E0-01A-11D-A20C-08	16286512	130769300	50145960	7	2446											
ZPBP	11055	broad.mit.edu	37	7	50057890	50057890	+	Silent	SNP	T	T	C			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr7:50057890T>C	ENST00000046087.2	-	6	798	c.729A>G	c.(727-729)aaA>aaG	p.K243K	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.K242K	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	243					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCTTGGGTCCTTTTTCAGTGT	0.294																																						uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(727-729)aaA>aaG		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.							91	89	90					7																	50057890		2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50057890T>C	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.729A>G	7.37:g.50057890T>C			Somatic				ZPBP_uc010kyw.3_Silent_p.K242K	p.K243K	NM_007009	NP_008940	WXS	Illumina GAIIx	Phase_I	Q9BS86	ZPBP1_HUMAN			5	799	-	Glioma(55;0.08)|all_neural(89;0.245)		243					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.729A>G	CCDS5509.1																																																																																				0.294	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		3	55	0	0	0	1	0	3	55					C	50057890	T	C	50057890	2	2	140	1	0	0	0	0	0	0	0	1	18216	1606	56	3		3	ZPBP	7	50057890	Silent	SNP	T	TCGA-E3-A3E0-01A-11D-A20C-08		50057890	109080773	8	2447											
GOT1L1	137362	broad.mit.edu	37	8	37795175	37795175	+	Silent	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr8:37795175G>A	ENST00000307599.4	-	3	489	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	130					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			AAGAGATGATGTAAACTATAC	0.498																																						uc011lbj.1																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(388-390)taC>taT		Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.							62	63	63					8																	37795175		2000	4173	6173	SO:0001819	synonymous_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37795175G>A	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.390C>T	8.37:g.37795175G>A			Somatic					p.Y130Y	NM_152413	NP_689626	WXS	Illumina GAIIx	Phase_I	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		2	490	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	130					A8MWL4	Silent	SNP	ENST00000307599.4	37	c.390C>T	CCDS47839.1																																																																																				0.498	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		10	14	0	0	0	1	0	10	14					A	37795175	G	A	37795175	2	1	140	1	0	0	0	0	0	0	0	1	6580	1372	48	2		2	GOT1L1	8	37795175	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		37795175	108568847	9	2448											
PGM5	5239	broad.mit.edu	37	9	70999448	70999448	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr9:70999448A>G	ENST00000396396.1	+	3	788	c.559A>G	c.(559-561)Aaa>Gaa	p.K187E	PGM5_ENST00000396392.1_Missense_Mutation_p.K187E|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	187					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAACAAATTCAAACCATTCAG	0.378																																						uc004agr.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(559-561)Aaa>Gaa		Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.							60	59	60					9																	70999448		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70999448A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.559A>G	9.37:g.70999448A>G	ENSP00000379678:p.Lys187Glu		Somatic					p.K187E	NM_021965	NP_068800	WXS	Illumina GAIIx	Phase_I	Q15124	PGM5_HUMAN			2	788	+			187					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.559A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.18	2.458050	0.43634	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.62941	-0.01;-0.01	4.36	4.36	0.52297	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.054741	0.64402	U	0.000001	T	0.48589	0.1508	L	0.27053	0.805	0.50171	D	0.999856	B	0.10296	0.003	B	0.06405	0.002	T	0.45026	-0.9289	10	0.42905	T	0.14	.	12.8119	0.57645	1.0:0.0:0.0:0.0	.	187	Q15124	PGM5_HUMAN	E	187	ENSP00000379678:K187E;ENSP00000379674:K187E	ENSP00000379674:K187E	K	+	1	0	PGM5	70189268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.105000	0.77031	1.712000	0.51347	0.467000	0.42956	AAA		0.378	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		27	49	0	0	0	1	0	27	49					G	70999448	A	G	70999448	3	3	140	1	0	0	0	0	1	0	0	0	11801	131	5	3	569	3	PGM5	9	70999448	Missense_Mutation	SNP	A	TCGA-E3-A3E0-01A-11D-A20C-08		70999448	70213983	10	2449											
TRHDE	29953	broad.mit.edu	37	12	73012793	73012793	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr12:73012793G>A	ENST00000261180.4	+	13	2405	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	770					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACTGGACCGCATGGAAAAC	0.333																																						uc001sxa.3																			0		p.R770C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2308-2310)cGc>cAc		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							43	46	45					12																	73012793		2200	4300	6500	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012793G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2309G>A	12.37:g.73012793G>A	ENSP00000261180:p.Arg770His		Somatic					p.R770H	NM_013381	NP_037513	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			12	2339	+			770					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2309G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957892	0.73902	.	.	ENSG00000072657	ENST00000261180	T	0.05580	3.42	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00035	-1.2260	10	0.35671	T	0.21	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	770	Q9UKU6	TRHDE_HUMAN	H	770	ENSP00000261180:R770H	ENSP00000261180:R770H	R	+	2	0	TRHDE	71299060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.055000	0.93873	2.885000	0.99019	0.655000	0.94253	CGC		0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		3	68	0	0	0	1	0	3	68					A	73012793	G	A	73012793	3	1	140	1	0	0	0	0	1	0	0	0	16476	1087	38	1	2359	1	TRHDE	12	73012793	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		73012793	60839102	11	2450											
C14orf21	161424	broad.mit.edu	37	14	24774190	24774190	+	Silent	SNP	G	G	T			TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chr14:24774190G>T	ENST00000267425.3	+	10	1893	c.1800G>T	c.(1798-1800)gtG>gtT	p.V600V	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	600							poly(A) RNA binding (GO:0044822)										GCCACCATGTGGCTCGAAATG	0.552																																						uc001wol.1																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17						c.(1798-1800)gtG>gtT		Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.							62	57	59					14																	24774190		2203	4300	6503	SO:0001819	synonymous_variant	161424						RNA binding	g.chr14:24774190G>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1800G>T	14.37:g.24774190G>T			Somatic				C14orf21_uc001wom.1_Silent_p.V151V	p.V600V	NM_174913	NP_777573	WXS	Illumina GAIIx	Phase_I	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	9	1863	+			600					A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1800G>T	CCDS9624.1																																																																																				0.552	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			29	60	0	0	0	1	0	29	60					T	24774190	G	T	24774190	2	4	140	1	0	0	0	0	0	0	0	1	1769	1335	47	4		4	C14orf21	14	24774190	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		24774190	82575350	12	2451											
COL4A5	1287	broad.mit.edu	37	X	107812034	107812034	+	Missense_Mutation	SNP	G	G	A	rs104886046		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:107812034G>A	ENST00000361603.2	+	6	611	c.367G>A	c.(367-369)Gga>Aga	p.G123R	COL4A5_ENST00000328300.6_Missense_Mutation_p.G123R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	123	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTATTCCCGGATGCAATGG	0.383									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(367-369)Gga>Aga		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							89	84	85					X																	107812034		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107812034G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.367G>A	X.37:g.107812034G>A	ENSP00000354505:p.Gly123Arg		Somatic				COL4A5_uc004enz.1_Missense_Mutation_p.G123R	p.G123R	NM_033380	NP_203699	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			5	569	+			123			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.367G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729193	0.69074	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99186	-5.53;-5.53	4.89	4.89	0.63831	.	0.062950	0.64402	D	0.000006	D	0.99597	0.9854	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97575	1.0107	10	0.87932	D	0	.	17.3152	0.87221	0.0:0.0:1.0:0.0	.	123;123	E7EVY4;P29400	.;CO4A5_HUMAN	R	123	ENSP00000331902:G123R;ENSP00000354505:G123R	ENSP00000331902:G123R	G	+	1	0	COL4A5	107698690	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.860000	0.92272	2.270000	0.75569	0.600000	0.82982	GGA		0.383	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			55	104	0	0	0	1	0	55	104					A	107812034	G	A	107812034	3	1	140	1	0	0	0	0	1	0	0	0	3694	1117	39	1	389	1	COL4A5	23	107812034	Missense_Mutation	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08		107812034	47458526	13	2452											
ODZ1	10178	broad.mit.edu	37	X	123556255	123556255	+	Silent	SNP	G	G	C	rs369708233		TCGA-E3-A3E0-01A-11D-A20C-08	TCGA-E3-A3E0-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc913911-8fc0-4cd6-8ba0-ebdb9cc664d1	6928cbfc-6138-441b-bc97-62a73788ef08	g.chrX:123556255G>C	ENST00000371130.3	-	23	4380	c.4317C>G	c.(4315-4317)ctC>ctG	p.L1439L	TENM1_ENST00000422452.2_Silent_p.L1446L|STAG2_ENST00000469481.1_3'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1439					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGCTATGAAGAGCAGCCCGC	0.537																																						uc010nqy.3																			0				NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(4336-4338)ctC>ctG		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.		G	,,	1,3834		0,0,1,1632,570	158	120	133		4338,4335,4317	3.8	1.0	X		133	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	,,	0,0,1,4060,2442	CC,CG,C,GG,G		0.0,0.0261,0.0095	,,	1446/2733,1445/2732,1439/2726	123556255	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123556255G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4317C>G	X.37:g.123556255G>C			Somatic				ODZ1_uc011muj.2_Silent_p.L1445L|ODZ1_uc004euj.3_Silent_p.L1439L	p.L1446L	NM_001163278	NP_001156750	WXS	Illumina GAIIx	Phase_I	Q9UKZ4	TEN1_HUMAN			23	4402	-			1439					B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.4338C>G	CCDS14609.1																																																																																				0.537	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	209	0	0	0	1	0	6	209					C	123556255	G	C	123556255	2	2	140	1	0	0	0	0	0	0	0	1	10834	929	33	4		4	ODZ1	23	123556255	Silent	SNP	G	TCGA-E3-A3E0-01A-11D-A20C-08	15744221	123556255	31714305	14	2453											
INPP5B	3633	broad.mit.edu	37	1	38409493	38409493	+	Silent	SNP	G	G	C			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:38409493G>C	ENST00000373026.1	-	3	225	c.225C>G	c.(223-225)gtC>gtG	p.V75V	INPP5B_ENST00000373024.3_Silent_p.V75V|INPP5B_ENST00000373023.2_Silent_p.V75V|INPP5B_ENST00000373021.1_Silent_p.V75V			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	75	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATCCCGCGAGACTGGCACTA	0.582																																						uc001ccg.1																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(223-225)gtC>gtG		Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.							93	91	92					1																	38409493		1953	4148	6101	SO:0001819	synonymous_variant	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38409493G>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.225C>G	1.37:g.38409493G>C			Somatic				INPP5B_uc009vvk.1_Silent_p.V16V|INPP5B_uc001cch.3_Silent_p.V16V	p.V75V	NM_005540	NP_005531	WXS	Illumina GAIIx	Phase_I	P32019	I5P2_HUMAN			3	319	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	75					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.225C>G																																																																																					0.582	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		6	207	0	0	0	1	0	6	207					C	38409493	G	C	38409493	2	2	141	1	0	0	0	0	0	0	0	1	7755	929	33	4		4	INPP5B	1	38409493	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		38409493	210841128	1	2454											
AGL	178	broad.mit.edu	37	1	100366293	100366293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:100366293G>A	ENST00000294724.4	+	26	3942	c.3464G>A	c.(3463-3465)tGg>tAg	p.W1155*	AGL_ENST00000361522.4_Nonsense_Mutation_p.W1138*|AGL_ENST00000370163.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000361302.3_Nonsense_Mutation_p.W1139*|AGL_ENST00000370161.2_Nonsense_Mutation_p.W1139*|AGL_ENST00000361915.3_Nonsense_Mutation_p.W1155*|AGL_ENST00000370165.3_Nonsense_Mutation_p.W1155*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1155					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATGCTGTGTGGTGGTGGCTG	0.428																																						uc001dsi.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3463-3465)tGg>tAg		Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.							281	265	271					1																	100366293		2203	4300	6503	SO:0001587	stop_gained	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100366293G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3464G>A	1.37:g.100366293G>A	ENSP00000294724:p.Trp1155*		Somatic				AGL_uc001dsj.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsk.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsl.1_Nonsense_Mutation_p.W1155*|AGL_uc001dsm.1_Nonsense_Mutation_p.W1139*|AGL_uc001dsn.1_Nonsense_Mutation_p.W1138*	p.W1155*	NM_000642	NP_000635	WXS	Illumina GAIIx	Phase_I	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	25	3864	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1155					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	c.3464G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	44	10.829786	0.99474	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9375	0.97146	0.0:0.0:1.0:0.0	.	.	.	.	X	1155;1155;1155;1155;1139;1139;1138	.	ENSP00000294724:W1155X	W	+	2	0	AGL	100138881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.717000	0.92951	0.650000	0.86243	TGG		0.428	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		5	329	0	0	0	1	0	5	329					A	100366293	G	A	100366293	4	1	141	1	0	0	0	0	0	1	0	0	384	1357	47	2	3631	2	AGL	1	100366293	Nonsense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	61956800	100366293	148884328	2	2455											
S100A7	6278	broad.mit.edu	37	1	153430314	153430314	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr1:153430314C>G	ENST00000368723.3	-	3	384	c.274G>C	c.(274-276)Gga>Cga	p.G92R	S100A7_ENST00000368722.1_Missense_Mutation_p.G92R	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	92					angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGCTGCTCCATGGCTCTGC	0.517																																						uc001fbv.1																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(274-276)Gga>Cga		Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.							80	75	76					1																	153430314		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	g.chr1:153430314C>G	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.274G>C	1.37:g.153430314C>G	ENSP00000357712:p.Gly92Arg		Somatic					p.G92R	NM_002963	NP_002954	WXS	Illumina GAIIx	Phase_I	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	345	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		92					Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.274G>C	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.634784	0.29068	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.05996	3.36;3.36	2.15	1.23	0.21249	EF-hand-like domain (1);	.	.	.	.	T	0.03178	0.0093	L	0.35593	1.075	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.27673	-1.0067	9	0.10377	T	0.69	.	4.7966	0.13276	0.0:0.8155:0.0:0.1845	.	92	P31151	S10A7_HUMAN	R	92	ENSP00000357712:G92R;ENSP00000357711:G92R	ENSP00000357711:G92R	G	-	1	0	S100A7	151696938	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.026000	0.03596	0.486000	0.27676	0.194000	0.17425	GGA		0.517	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		4	121	0	0	0	1	0	4	121					G	153430314	C	G	153430314	3	3	141	1	0	0	0	0	1	0	0	0	13783	603	21	4	35	4	S100A7	1	153430314	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	53064021	153430314	95820307	3	2456											
FBXO41	150726	broad.mit.edu	37	2	73486158	73486158	+	Silent	SNP	C	C	T	rs200807832	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:73486158C>T	ENST00000521871.1	-	13	2995	c.2580G>A	c.(2578-2580)agG>agA	p.R860R	FBXO41_ENST00000520530.2_Silent_p.R860R|FBXO41_ENST00000295133.5_Silent_p.R921R			Q8TF61	FBX41_HUMAN	F-box protein 41	860										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AGAAGCCGGGCCTCCGTCGCA	0.677													C|||	3	0.000599042	0	0	5008	,	,		15791	0		0.003	False		,,,				2504	0					uc021vjh.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(2578-2580)agG>agA		Homo sapiens F-box protein 41 (FBXO41), mRNA.		C		1,3875		0,1,1937	24	29	27		2580	2.1	1.0	2		27	16,8184		0,16,4084	no	coding-synonymous	FBXO41	NM_001080410.2		0,17,6021	TT,TC,CC		0.1951,0.0258,0.1408		860/876	73486158	17,12059	1938	4100	6038	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73486158C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2580G>A	2.37:g.73486158C>T			Somatic					p.R860R	NM_001080410	NP_001073879	WXS	Illumina GAIIx	Phase_I	Q8TF61	FBX41_HUMAN			11	2670	-			860					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.2580G>A	CCDS46337.2																																																																																				0.677	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			4	7	0	0	0	1	0	4	7					T	73486158	C	T	73486158	2	4	141	1	0	0	0	0	0	0	0	1	5750	738	26	2		2	FBXO41	2	73486158	Silent	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		73486158	169713215	4	2457											
VWA3B	200403	broad.mit.edu	37	2	98750306	98750306	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:98750306A>G	ENST00000477737.1	+	7	1096	c.892A>G	c.(892-894)Aga>Gga	p.R298G	VWA3B_ENST00000435344.1_Missense_Mutation_p.R298G|VWA3B_ENST00000451075.2_Missense_Mutation_p.R148G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	298										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTTGCCGAGAGAACAGAGTG	0.473																																						uc002syo.3																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(892-894)Aga>Gga		Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.							290	275	280					2																	98750306		2072	4220	6292	SO:0001583	missense	200403							g.chr2:98750306A>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.892A>G	2.37:g.98750306A>G	ENSP00000417955:p.Arg298Gly		Somatic				VWA3B_uc010yvh.2_Missense_Mutation_p.R148G|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.R298G|VWA3B_uc002syn.1_Non-coding_Transcript	p.R298G	NM_144992	NP_659429	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			6	1156	+			298					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.892A>G	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.954602	0.34471	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.15372	7.41;7.41;2.43	5.66	4.48	0.54585	.	0.084795	0.48286	D	0.000192	T	0.31638	0.0803	L	0.54323	1.7	0.27265	N	0.958533	D;D;D	0.65815	0.965;0.995;0.99	P;P;P	0.61658	0.468;0.718;0.892	T	0.08827	-1.0703	10	0.72032	D	0.01	.	10.6797	0.45807	0.8396:0.1604:0.0:0.0	.	148;298;298	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	G	298;298;148	ENSP00000401959:R298G;ENSP00000417955:R298G;ENSP00000389463:R148G	ENSP00000411168:R298G	R	+	1	2	VWA3B	98116738	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	2.731000	0.47343	0.937000	0.37394	0.533000	0.62120	AGA		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	323	0	0	0	1	0	5	323					G	98750306	A	G	98750306	3	3	141	1	0	0	0	0	1	0	0	0	17238	296	11	3	914	3	VWA3B	2	98750306	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	25264148	98750306	144449067	5	2458											
ANKRD57	65124	broad.mit.edu	37	2	110373405	110373405	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:110373405G>T	ENST00000356454.3	+	1	1495	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	447																	CTCGGCTGAGGGGTGGGTCGG	0.552																																						uc002tfb.3																			0											c.(1339-1341)Ggg>Tgg		Homo sapiens sosondowah ankyrin repeat domain family member C (SOWAHC), mRNA.							54	56	56					2																	110373405		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373405G>T	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1339G>T	2.37:g.110373405G>T	ENSP00000365830:p.Gly447Trp		Somatic				SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.3_5'Flank|SEPT10_uc002tex.3_5'Flank|SEPT10_uc002tey.3_5'Flank|SEPT10_uc010ywv.2_5'Flank	p.G447W	NM_023016	NP_075392	WXS	Illumina GAIIx	Phase_I	Q53LP3	ANR57_HUMAN			0	1495	+			447					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1339G>T	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637643	0.47049	.	.	ENSG00000198142	ENST00000356454	T	0.49432	0.78	4.69	4.69	0.59074	.	.	.	.	.	T	0.51466	0.1676	N	0.24115	0.695	0.26446	N	0.975682	D	0.69078	0.997	P	0.61328	0.887	T	0.45041	-0.9288	9	0.72032	D	0.01	-7.7176	12.7041	0.57051	0.0:0.1655:0.8345:0.0	.	447	Q53LP3	ANR57_HUMAN	W	447	ENSP00000365830:G447W	ENSP00000365830:G447W	G	+	1	0	ANKRD57	109730694	0.962000	0.33011	0.163000	0.22734	0.057000	0.15508	2.096000	0.41738	2.446000	0.82766	0.556000	0.70494	GGG		0.552	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		3	82	0	0	0	1	0	3	82					T	110373405	G	T	110373405	3	4	141	1	0	0	0	0	1	0	0	0	683	1232	43	4	1341	4	ANKRD57	2	110373405	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	11623099	110373405	132825968	6	2459											
PKP4	8502	broad.mit.edu	37	2	159477861	159477861	+	Silent	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr2:159477861G>A	ENST00000389759.3	+	6	643	c.531G>A	c.(529-531)caG>caA	p.Q177Q	PKP4_ENST00000389757.3_Silent_p.Q177Q	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	177					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						ACAGACAGCAGCATTCATTCA	0.453										HNSCC(62;0.18)																												uc002tzv.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.(529-531)caG>caA		Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.							129	108	115					2																	159477861		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159477861G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.531G>A	2.37:g.159477861G>A		HNSCC(62;0.18)	Somatic				PKP4_uc002tzt.1_Silent_p.Q29Q|PKP4_uc002tzu.3_Silent_p.Q177Q|PKP4_uc002tzw.3_Silent_p.Q177Q|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.Q175Q|PKP4_uc002uaa.3_Silent_p.Q29Q	p.Q177Q	NM_003628	NP_003619	WXS	Illumina GAIIx	Phase_I	Q99569	PKP4_HUMAN			5	791	+			177					Q86W91	Silent	SNP	ENST00000389759.3	37	c.531G>A	CCDS33305.1																																																																																				0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			3	100	0	0	0	1	0	3	100					A	159477861	G	A	159477861	2	1	141	1	0	0	0	0	0	0	0	1	11987	962	34	2		2	PKP4	2	159477861	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	49104456	159477861	83721512	7	2460											
DBN1	1627	broad.mit.edu	37	5	176886214	176886214	+	Silent	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr5:176886214G>A	ENST00000309007.5	-	11	1230	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	DBN1_ENST00000393563.4_Silent_p.S69S|DBN1_ENST00000512501.1_Silent_p.S69S|DBN1_ENST00000393565.1_Silent_p.S383S|DBN1_ENST00000292385.5_Silent_p.S339S	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	337					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			AGTCAGACGGGCTCCGCGTGG	0.697																																						uc003mgx.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1015-1017)agC>agT		Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.							76	78	77					5																	176886214		2203	4300	6503	SO:0001819	synonymous_variant	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176886214G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1011C>T	5.37:g.176886214G>A			Somatic				DBN1_uc011dga.1_Silent_p.S69S|DBN1_uc003mgy.2_Silent_p.S337S|DBN1_uc010jkn.1_Silent_p.S287S|DBN1_uc003mgz.1_Silent_p.S320S	p.S339S	NM_080881	NP_543157	WXS	Illumina GAIIx	Phase_I	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1299	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	337					A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	c.1017C>T	CCDS4420.1																																																																																				0.697	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		4	215	0	0	0	1	0	4	215					A	176886214	G	A	176886214	2	1	141	1	0	0	0	0	0	0	0	1	4252	1194	42	2		2	DBN1	5	176886214	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		176886214	4029046	8	2461											
ABCB4	5244	broad.mit.edu	37	7	87031478	87031478	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:87031478C>G	ENST00000265723.4	-	28	3906	c.3795G>C	c.(3793-3795)caG>caC	p.Q1265H	ABCB4_ENST00000453593.1_Missense_Mutation_p.Q1211H|ABCB4_ENST00000358400.3_Missense_Mutation_p.Q1211H|ABCB4_ENST00000359206.3_Missense_Mutation_p.Q1258H|ABCB4_ENST00000545634.1_Missense_Mutation_p.Q1258H	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	1265	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	GTGCCAGCAGCTGCTGATGCG	0.443																																						uc003uiv.1																			0				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						c.(3793-3795)caG>caC		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							131	124	126					7																	87031478		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87031478C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3795G>C	7.37:g.87031478C>G	ENSP00000265723:p.Gln1265His		Somatic				ABCB4_uc003uiw.1_Missense_Mutation_p.Q1258H|ABCB4_uc003uix.1_Missense_Mutation_p.Q1211H	p.Q1265H	NM_018849	NP_061337	WXS	Illumina GAIIx	Phase_I	P21439	MDR3_HUMAN			27	3871	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1265			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3795G>C	CCDS5606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.48|19.48	3.834694|3.834694	0.71373|0.71373	.|.	.|.	ENSG00000005471|ENSG00000005471	ENST00000440025|ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.|T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33	5.3|5.3	5.3|5.3	0.74995|0.74995	.|ABC transporter-like (1);	.|0.057053	.|0.64402	.|D	.|0.000001	T|T	0.77618|0.77618	0.4157|0.4157	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.76494	.|0.366;0.999;0.999	.|B;D;D	.|0.72982	.|0.098;0.979;0.954	T|T	0.79329|0.79329	-0.1848|-0.1848	5|10	.|0.87932	.|D	.|0	-10.3598|-10.3598	19.3068|19.3068	0.94165|0.94165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1211;1258;1265	.|A4D1D5;P21439-2;P21439	.|.;.;MDR3_HUMAN	P|H	70|1258;1211;1265;1211;1258	.|ENSP00000352135:Q1258H;ENSP00000351172:Q1211H;ENSP00000265723:Q1265H;ENSP00000392983:Q1211H;ENSP00000437465:Q1258H	.|ENSP00000265723:Q1265H	A|Q	-|-	1|3	0|2	ABCB4|ABCB4	86869414|86869414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	1.672000|1.672000	0.37523|0.37523	2.626000|2.626000	0.88956|0.88956	0.655000|0.655000	0.94253|0.94253	GCT|CAG		0.443	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		5	185	0	0	0	1	0	5	185					G	87031478	C	G	87031478	3	3	141	1	0	0	0	0	1	0	0	0	43	796	28	4	69	4	ABCB4	7	87031478	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		87031478	72107185	9	2462											
ORAI2	80228	broad.mit.edu	37	7	102087134	102087134	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:102087134A>T	ENST00000356387.2	+	4	635	c.400A>T	c.(400-402)Atc>Ttc	p.I134F	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Missense_Mutation_p.I134F|ORAI2_ENST00000478730.2_Missense_Mutation_p.I134F|ORAI2_ENST00000473939.1_Missense_Mutation_p.I134F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	134						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCTGAACTCCATCAGCGAGTC	0.627																																						uc010lhz.1																			0		p.S133A(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(400-402)Atc>Ttc		Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.							180	151	161					7																	102087134		2203	4300	6503	SO:0001583	missense	80228					integral to membrane	protein binding	g.chr7:102087134A>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.400A>T	7.37:g.102087134A>T	ENSP00000348752:p.Ile134Phe		Somatic				ORAI2_uc003uzj.2_Missense_Mutation_p.I134F|ORAI2_uc003uzk.2_Missense_Mutation_p.I134F|ORAI2_uc011kks.1_Missense_Mutation_p.I57F	p.I134F	NM_001126340	NP_116220	WXS	Illumina GAIIx	Phase_I	Q96SN7	ORAI2_HUMAN			3	635	+			134					Q6IA68|Q8WY94|Q9H9Y3	Missense_Mutation	SNP	ENST00000356387.2	37	c.400A>T	CCDS5722.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051499	0.55218	.	.	ENSG00000160991	ENST00000495936;ENST00000356387;ENST00000478730;ENST00000468241;ENST00000403646;ENST00000473939	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.41	5.41	0.78517	.	0.163707	0.51477	D	0.000093	T	0.31765	0.0807	N	0.22421	0.69	0.58432	D	0.999991	P	0.38250	0.624	B	0.40444	0.329	T	0.21245	-1.0251	10	0.87932	D	0	-13.2426	9.1877	0.37180	0.9195:0.0:0.0805:0.0	.	134	Q96SN7	ORAI2_HUMAN	F	134	ENSP00000420178:I134F;ENSP00000348752:I134F;ENSP00000418140:I134F;ENSP00000417407:I134F;ENSP00000385489:I134F;ENSP00000417928:I134F	ENSP00000348752:I134F	I	+	1	0	ORAI2	101874139	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.159000	0.71856	2.062000	0.61559	0.459000	0.35465	ATC		0.627	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		5	230	0	0	0	1	0	5	230					T	102087134	A	T	102087134	3	4	141	1	0	0	0	0	1	0	0	0	11258	217	8	5	406	5	ORAI2	7	102087134	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	15055656	102087134	57051529	10	2463											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	64	0	0	0	1	0	42	64					T	140453136	A	T	140453136	3	4	141	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08	38366002	140453136	18685527	11	2464											
INTS5	80789	broad.mit.edu	37	11	62414648	62414648	+	Silent	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:62414648G>A	ENST00000330574.2	-	2	2956	c.2904C>T	c.(2902-2904)cgC>cgT	p.R968R	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	968					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCGAATGAAGCGACCCCGCT	0.597																																						uc001nud.3																			0		p.G967S(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2902-2904)cgC>cgT		Homo sapiens integrator complex subunit 5 (INTS5), mRNA.							127	126	127					11																	62414648		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414648G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2904C>T	11.37:g.62414648G>A			Somatic				GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	p.R968R	NM_030628	NP_085131	WXS	Illumina GAIIx	Phase_I	Q6P9B9	INT5_HUMAN			1	2957	-			968					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2904C>T	CCDS8027.1																																																																																				0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		5	171	0	0	0	1	0	5	171					A	62414648	G	A	62414648	2	1	141	1	0	0	0	0	0	0	0	1	7781	958	34	2		2	INTS5	11	62414648	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		62414648	72591868	12	2465											
NCAPD3	23310	broad.mit.edu	37	11	134029936	134029936	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr11:134029936C>G	ENST00000534548.2	-	29	3782	c.3718G>C	c.(3718-3720)Gac>Cac	p.D1240H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1240					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCAAAGAAGTCCTTGAGCTCA	0.473																																						uc001qhd.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3718-3720)Gac>Cac		Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.							134	120	125					11																	134029936		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134029936C>G	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3718G>C	11.37:g.134029936C>G	ENSP00000433681:p.Asp1240His		Somatic				NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	p.D1240H	NM_015261	NP_056076	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	28	4324	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1240					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3718G>C	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793781	0.90453	.	.	ENSG00000151503	ENST00000534548;ENST00000527944	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	Armadillo-type fold (1);	0.252260	0.45126	D	0.000385	T	0.79191	0.4404	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65987	0.868;0.94	T	0.81031	-0.1117	10	0.72032	D	0.01	-16.7747	19.4536	0.94878	0.0:1.0:0.0:0.0	.	1240;300	P42695;Q96FA6	CNDD3_HUMAN;.	H	1240;145	ENSP00000433681:D1240H;ENSP00000432532:D145H	ENSP00000432532:D145H	D	-	1	0	NCAPD3	133535146	1.000000	0.71417	0.989000	0.46669	0.923000	0.55619	7.776000	0.85560	2.648000	0.89879	0.655000	0.94253	GAC		0.473	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		6	98	0	0	0	1	0	6	98					G	134029936	C	G	134029936	3	3	141	1	0	0	0	0	1	0	0	0	10206	855	30	4	806	4	NCAPD3	11	134029936	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	71615288	134029936	976580	13	2466											
ZC3H13	23091	broad.mit.edu	37	13	46619560	46619560	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr13:46619560T>A	ENST00000242848.4	-	2	431	c.83A>T	c.(82-84)gAg>gTg	p.E28V	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E28V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	28							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)		TCCAAGCCTCTCAAATACACT	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			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.(82-84)gAg>gTg		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							213	225	221					13																	46619560		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46619560T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.83A>T	13.37:g.46619560T>A	ENSP00000242848:p.Glu28Val		Somatic				ZC3H13_uc001vas.1_Missense_Mutation_p.E28V|ZC3H13_uc001vat.1_Missense_Mutation_p.E28V	p.E28V	NM_015070	NP_055885	WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	0	89	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	28					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.83A>T		.	.	.	.	.	.	.	.	.	.	T	14.76	2.630479	0.46944	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.55930	1.53;0.49	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000030	T	0.54695	0.1874	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.65899	-0.6056	10	0.87932	D	0	.	15.6151	0.76760	0.0:0.0:0.0:1.0	.	28;28	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	V	28	ENSP00000242848:E28V;ENSP00000282007:E28V	ENSP00000242848:E28V	E	-	2	0	ZC3H13	45517561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.579000	0.82511	2.096000	0.63516	0.477000	0.44152	GAG		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	250	0	0	0	1	0	7	250					A	46619560	T	A	46619560	3	1	141	1	0	0	0	0	1	0	0	0	17562	1551	54	5	4675	5	ZC3H13	13	46619560	Missense_Mutation	SNP	T	TCGA-E3-A3E1-01A-11D-A20C-08		46619560	68550318	14	2467											
EPB42	2038	broad.mit.edu	37	15	43489545	43489545	+	Silent	SNP	G	G	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr15:43489545G>T	ENST00000441366.2	-	13	2256	c.2031C>A	c.(2029-2031)acC>acA	p.T677T	EPB42_ENST00000300215.3_Silent_p.T707T|EPB42_ENST00000563128.1_Intron|EPB42_ENST00000540029.1_Silent_p.T599T	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	677					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTTTATAGTTGGTTAGGTTCT	0.483																																						uc001zrb.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2119-2121)acC>acA		Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.							159	122	135					15																	43489545		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43489545G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.2031C>A	15.37:g.43489545G>T			Somatic				EPB42_uc001zqz.4_Silent_p.T344T|EPB42_uc001zra.4_Silent_p.T677T|EPB42_uc010udm.2_Silent_p.T599T	p.T707T	NM_000119	NP_000110	WXS	Illumina GAIIx	Phase_I	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	12	2421	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	677					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.2121C>A	CCDS45249.1																																																																																				0.483	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		3	70	0	0	0	1	0	3	70					T	43489545	G	T	43489545	2	4	141	1	0	0	0	0	0	0	0	1	5158	1335	47	4		4	EPB42	15	43489545	Silent	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		43489545	59041847	15	2468											
MSLNL	401827	broad.mit.edu	37	16	823129	823129	+	Splice_Site	SNP	C	C	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr16:823129C>G	ENST00000442466.1	-	9	1085	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Splice_Site_p.Q713H			Q96KJ4	MSLNL_HUMAN	mesothelin-like	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCCGTGCACCTGTGCGAGCT	0.657																																						uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.e10+1		Homo sapiens mesothelin-like (MSLNL), mRNA.							48	58	55					16																	823129		2101	4219	6320	SO:0001630	splice_region_variant	401827				cell adhesion	integral to membrane		g.chr16:823129C>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1086+1G>C	16.37:g.823129C>G			Somatic					p.Q713_splice	NM_001025190	NP_001020361	WXS	Illumina GAIIx	Phase_I	Q96KJ4	MSLNL_HUMAN			10	2139	-			362						Splice_Site	SNP	ENST00000442466.1	37	c.2139_splice		.	.	.	.	.	.	.	.	.	.	C	14.71	2.615879	0.46631	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11712	2.75;2.75;2.75	4.19	4.19	0.49359	.	0.440276	0.21575	N	0.072341	T	0.24774	0.0601	.	.	.	0.46131	D	0.998886	D	0.62365	0.991	P	0.59288	0.855	T	0.00609	-1.1646	8	.	.	.	-9.6093	13.6881	0.62529	0.0:1.0:0.0:0.0	.	362	Q96KJ4	MSLNL_HUMAN	H	412;362;713	ENSP00000441381:Q412H;ENSP00000415767:Q362H;ENSP00000293892:Q713H	.	Q	-	3	2	MSLNL	763130	0.276000	0.24211	0.846000	0.33378	0.107000	0.19398	2.122000	0.41987	2.323000	0.78572	0.543000	0.68304	CAG		0.657	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	Missense_Mutation	6	102	0	0	0	1	0	6	102					G	823129	C	G	823129	5	3	141	1	0	0	0	0	0	0	1	0	9882	695	24	4	1050	4	MSLNL	16	823129	Splice_Site	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		823129	89531624	16	2469											
ZZEF1	23140	broad.mit.edu	37	17	4020293	4020293	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:4020293G>C	ENST00000381638.2	-	3	791	c.667C>G	c.(667-669)Ctg>Gtg	p.L223V	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	223							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGCTGATCCAGAGACTCCTTC	0.512																																						uc002fxe.3																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(667-669)Ctg>Gtg		Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.							233	222	226					17																	4020293		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4020293G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.667C>G	17.37:g.4020293G>C	ENSP00000371051:p.Leu223Val		Somatic				ZZEF1_uc002fxk.1_Missense_Mutation_p.L223V	p.L223V	NM_015113	NP_055928	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			2	731	-			223					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.667C>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684100	0.68157	.	.	ENSG00000074755	ENST00000381638	T	0.63580	-0.05	5.87	3.89	0.44902	Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.72566	0.3476	M	0.62723	1.935	0.48395	D	0.999645	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72388	-0.4309	10	0.87932	D	0	-9.4864	7.0836	0.25245	0.3673:0.0:0.6327:0.0	.	223;223	O43149-3;O43149	.;ZZEF1_HUMAN	V	223	ENSP00000371051:L223V	ENSP00000371051:L223V	L	-	1	2	ZZEF1	3967042	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.541000	0.36126	0.827000	0.34685	0.591000	0.81541	CTG		0.512	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		17	322	0	0	0	1	0	17	322					C	4020293	G	C	4020293	3	2	141	1	0	0	0	0	1	0	0	0	18252	933	33	4	8430	4	ZZEF1	17	4020293	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08		4020293	77174917	17	2470											
GPR142	350383	broad.mit.edu	37	17	72366698	72366698	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr17:72366698G>A	ENST00000335666.4	+	3	445	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	133						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGCCCCACGTCAGCGGGCT	0.617																																						uc021ucp.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(388-390)Gtc>Atc		Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.							65	54	57					17																	72366698		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72366698G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.397G>A	17.37:g.72366698G>A	ENSP00000335158:p.Val133Ile		Somatic				GPR142_uc010wqy.2_Missense_Mutation_p.V133I	p.V130I	NM_181790	NP_861455	WXS	Illumina GAIIx	Phase_I	Q7Z601	GP142_HUMAN			2	397	+			133					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.388G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575403	0.28092	.	.	ENSG00000257008	ENST00000335666	T	0.67345	-0.26	4.64	0.334	0.15948	.	0.724710	0.13110	N	0.413051	T	0.37019	0.0988	N	0.08118	0	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.15870	0.014;0.01	T	0.14392	-1.0474	10	0.22109	T	0.4	-4.6989	3.0917	0.06296	0.3722:0.0:0.4427:0.185	.	133;1095	Q7Z601;Q8NGB0	GP142_HUMAN;.	I	133	ENSP00000335158:V133I	ENSP00000335158:V133I	V	+	1	0	GPR142	69878293	0.034000	0.19679	0.003000	0.11579	0.010000	0.07245	0.121000	0.15667	0.251000	0.21505	-0.699000	0.03677	GTC		0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		6	44	0	0	0	1	0	6	44					A	72366698	G	A	72366698	3	1	141	1	0	0	0	0	1	0	0	0	6650	1145	40	1	407	1	GPR142	17	72366698	Missense_Mutation	SNP	G	TCGA-E3-A3E1-01A-11D-A20C-08	68346405	72366698	8828512	18	2471											
TMEM146	257062	broad.mit.edu	37	19	5727298	5727298	+	Missense_Mutation	SNP	C	C	A			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr19:5727298C>A	ENST00000381624.3	+	3	207	c.146C>A	c.(145-147)cCt>cAt	p.P49H	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	49					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TATTTTCATCCTACAACAACA	0.303																																						uc002mda.3																			0											c.(145-147)cCt>cAt		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							108	100	102					19																	5727298		1818	4069	5887	SO:0001583	missense	257062					integral to membrane		g.chr19:5727298C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.146C>A	19.37:g.5727298C>A	ENSP00000371037:p.Pro49His		Somatic				CATSPERD_uc010duj.1_5'UTR	p.P49H	NM_152784	NP_689997	WXS	Illumina GAIIx	Phase_I	Q86XM0	TM146_HUMAN			2	207	+			49					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.146C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	6.670	0.492148	0.12702	.	.	ENSG00000174898	ENST00000381624	T	0.22134	1.97	3.0	1.95	0.26073	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.18873	N	0.999983	B	0.33448	0.412	B	0.26094	0.066	T	0.20840	-1.0263	9	0.56958	D	0.05	.	6.0334	0.19692	0.0:0.8572:0.0:0.1427	.	49	Q86XM0	TM146_HUMAN	H	49	ENSP00000371037:P49H	ENSP00000371037:P49H	P	+	2	0	TMEM146	5678298	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.132000	0.10467	0.835000	0.34877	0.467000	0.42956	CCT		0.303	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		3	93	0	0	0	1	0	3	93					A	5727298	C	A	5727298	3	1	141	1	0	0	0	0	1	0	0	0	16057	681	24	4	156	4	TMEM146	19	5727298	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		5727298	53401685	19	2472											
MX1	4599	broad.mit.edu	37	21	42812881	42812881	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chr21:42812881A>G	ENST00000398600.2	+	11	1684	c.659A>G	c.(658-660)aAt>aGt	p.N220S	MX1_ENST00000288383.6_Missense_Mutation_p.N197S|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Missense_Mutation_p.N220S|MX1_ENST00000455164.2_Missense_Mutation_p.N220S	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	220	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GTCCCCAGTAATGTGGACATC	0.572																																						uc002yzh.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(658-660)aAt>aGt		Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 1, mRNA.							120	111	114					21																	42812881		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42812881A>G		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.659A>G	21.37:g.42812881A>G	ENSP00000381601:p.Asn220Ser		Somatic				MX1_uc010goq.3_Missense_Mutation_p.N220S|MX1_uc002yzi.3_Missense_Mutation_p.N220S	p.N220S	NM_001144925	NP_002453	WXS	Illumina GAIIx	Phase_I	P20591	MX1_HUMAN			10	1606	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	220					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.659A>G	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332694	0.81801	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.65	4.65	0.58169	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	-65.9414	13.6501	0.62306	1.0:0.0:0.0:0.0	.	220	P20591	MX1_HUMAN	S	220;220;220;197	ENSP00000381601:N220S;ENSP00000381599:N220S;ENSP00000410523:N220S;ENSP00000288383:N197S	ENSP00000288383:N197S	N	+	2	0	MX1	41734751	1.000000	0.71417	0.046000	0.18839	0.891000	0.51852	5.990000	0.70595	2.050000	0.60909	0.528000	0.53228	AAT		0.572	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			14	147	0	0	0	1	0	14	147					G	42812881	A	G	42812881	3	3	141	1	0	0	0	0	1	0	0	0	9997	101	4	3	677	3	MX1	21	42812881	Missense_Mutation	SNP	A	TCGA-E3-A3E1-01A-11D-A20C-08		42812881	5317014	20	2473											
ZMAT1	84460	broad.mit.edu	37	X	101138612	101138612	+	Missense_Mutation	SNP	C	C	T	rs141908807	byFrequency	TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:101138612C>T	ENST00000372782.3	-	7	1834	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	ZMAT1_ENST00000458570.1_Missense_Mutation_p.R425Q|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R596Q	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	596						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R425Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTTTTTTCGATGCTTAAG	0.383																																						uc011mrl.2																			1	Substitution - Missense(1)	p.R425Q(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1786-1788)cGa>cAa		Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.		C	GLN/ARG	0,3835		0,0,0,1632,571	184	158	166		1787	1.6	1.0	X	dbSNP_134	166	1,6725		0,0,1,2427,1871	no	missense	ZMAT1	NM_001011657.3	43	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	596/639	101138612	1,10560	2203	4299	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138612C>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1787G>A	X.37:g.101138612C>T	ENSP00000361868:p.Arg596Gln		Somatic				ZMAT1_uc004eim.3_Missense_Mutation_p.R425Q|ZMAT1_uc004ein.3_Missense_Mutation_p.R425Q|ZMAT1_uc011mrm.2_Missense_Mutation_p.R425Q	p.R596Q	NM_001011657	NP_001011657	WXS	Illumina GAIIx	Phase_I	A7MD47	A7MD47_HUMAN			6	2137	-			425					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1787G>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291668	0.40594	0.0	1.49E-4	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27104	2.3;2.3;1.69	4.27	1.56	0.23342	.	0.202088	0.30285	N	0.009977	T	0.21427	0.0516	M	0.72118	2.19	0.30656	N	0.754896	P	0.34662	0.462	B	0.22753	0.041	T	0.13124	-1.0521	10	0.51188	T	0.08	-0.958	7.2569	0.26181	0.0:0.6815:0.0:0.3185	.	596	Q5H9K5	ZMAT1_HUMAN	Q	596;596;425	ENSP00000361868:R596Q;ENSP00000437529:R596Q;ENSP00000413044:R425Q	ENSP00000361868:R596Q	R	-	2	0	ZMAT1	101025268	0.001000	0.12720	0.998000	0.56505	0.993000	0.82548	-0.037000	0.12164	0.190000	0.20209	0.600000	0.82982	CGA		0.383	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			4	65	0	0	0	1	0	4	65					T	101138612	C	T	101138612	3	4	141	1	0	0	0	0	1	0	0	0	17688	884	31	1	133	1	ZMAT1	23	101138612	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08		101138612	54131948	21	2474											
MCF2	4168	broad.mit.edu	37	X	138668623	138668623	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:138668623C>T	ENST00000370576.4	-	23	2755	c.2546G>A	c.(2545-2547)aGt>aAt	p.S849N	MCF2_ENST00000370578.4_Missense_Mutation_p.S994N|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.S865N|MCF2_ENST00000520602.1_Missense_Mutation_p.S909N|MCF2_ENST00000414978.1_Missense_Mutation_p.S909N|MCF2_ENST00000519895.1_Missense_Mutation_p.S925N|MCF2_ENST00000370573.4_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	849					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCCTCAGTACTTATAAAAGC	0.383																																						uc011mwo.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2773-2775)aGt>aAt		Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 3, mRNA.							158	129	139					X																	138668623		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	g.chrX:138668623C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2546G>A	X.37:g.138668623C>T	ENSP00000359608:p.Ser849Asn		Somatic				MCF2_uc004fav.3_Missense_Mutation_p.S865N|MCF2_uc004fau.3_Missense_Mutation_p.S849N|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Missense_Mutation_p.S826N|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Missense_Mutation_p.S909N	p.S925N	NM_001171876	NP_001165347	WXS	Illumina GAIIx	Phase_I	P10911	MCF2_HUMAN			26	2935	-	Acute lymphoblastic leukemia(192;0.000127)		849					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2774G>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	3.414	-0.119652	0.06838	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000338585	T;T;T;T;T;T;T	0.52754	1.21;1.1;1.19;1.21;0.65;1.27;1.16	5.36	-3.02	0.05446	.	1.027290	0.07669	N	0.935075	T	0.28267	0.0698	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.001;0.001;0.002	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.002;0.001	T	0.17623	-1.0363	10	0.22706	T	0.39	.	6.4243	0.21760	0.1223:0.4024:0.0:0.4753	.	925;849;994;865;849	E9PH77;B2R9S6;Q5JYJ7;P10911-4;P10911	.;.;.;.;MCF2_HUMAN	N	909;849;994;909;452;925;865	ENSP00000427745:S909N;ENSP00000359608:S849N;ENSP00000359610:S994N;ENSP00000397055:S909N;ENSP00000405848:S452N;ENSP00000430276:S925N;ENSP00000342204:S865N	ENSP00000342204:S865N	S	-	2	0	MCF2	138496289	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.345000	0.19979	-1.227000	0.02571	-0.931000	0.02705	AGT		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	92	0	0	0	1	0	7	92					T	138668623	C	T	138668623	3	4	141	1	0	0	0	0	1	0	0	0	9378	565	20	2	271	2	MCF2	23	138668623	Missense_Mutation	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	37530011	138668623	16601937	22	2475											
MTMR1	8776	broad.mit.edu	37	X	149931175	149931175	+	Silent	SNP	C	C	T			TCGA-E3-A3E1-01A-11D-A20C-08	TCGA-E3-A3E1-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d327ae2c-248b-4733-9115-0294a3875e62	e7c8d85b-e62d-42f9-9600-f635b50dd69e	g.chrX:149931175C>T	ENST00000370390.3	+	15	2128	c.1971C>T	c.(1969-1971)tcC>tcT	p.S657S	MTMR1_ENST00000541925.1_Silent_p.S563S|MTMR1_ENST00000445323.2_Silent_p.S665S|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Silent_p.S657S	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	657					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.S657S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCACTCCGCCACCTCCG	0.672																																						uc004feh.1																			1	Substitution - coding silent(1)	p.S657S(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1993-1995)tcC>tcT		Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.							36	34	35					X																	149931175		2203	4298	6501	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149931175C>T	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1971C>T	X.37:g.149931175C>T			Somatic				MTMR1_uc011mya.1_Silent_p.S563S|MTMR1_uc004fei.3_Silent_p.S657S|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	p.S665S	NM_003828	NP_003819	WXS	Illumina GAIIx	Phase_I	Q13613	MTMR1_HUMAN			15	2130	+	Acute lymphoblastic leukemia(192;6.56e-05)		657					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1995C>T	CCDS14695.1																																																																																				0.672	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		20	62	0	0	0	1	0	20	62					T	149931175	C	T	149931175	2	4	141	1	0	0	0	0	0	0	0	1	9938	639	23	1		1	MTMR1	23	149931175	Silent	SNP	C	TCGA-E3-A3E1-01A-11D-A20C-08	11262552	149931175	5339385	23	2476											
USP37	57695	broad.mit.edu	37	2	219346911	219346911	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr2:219346911A>T	ENST00000258399.3	-	17	2129	c.1717T>A	c.(1717-1719)Tcg>Acg	p.S573T	USP37_ENST00000415516.1_Missense_Mutation_p.S501T|USP37_ENST00000454775.1_Missense_Mutation_p.S573T|USP37_ENST00000418019.1_Missense_Mutation_p.S573T|USP37_ENST00000475553.1_5'UTR	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	573	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGTTAAGCGAGAGAGCCACA	0.388																																						uc010fvs.1																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(1717-1719)Tcg>Acg		Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.							158	144	149					2																	219346911		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219346911A>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1717T>A	2.37:g.219346911A>T	ENSP00000258399:p.Ser573Thr		Somatic				USP37_uc002vie.2_Missense_Mutation_p.S573T|USP37_uc010zkf.1_Missense_Mutation_p.S573T|USP37_uc002vif.2_Missense_Mutation_p.S573T|USP37_uc002vig.2_Missense_Mutation_p.S501T	p.S573T	NM_020935	NP_065986	WXS	Illumina GAIIx	Phase_I	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	16	2130	-		Renal(207;0.0915)	573					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1717T>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118704	0.77323	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.69	5.69	0.88448	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	L	0.48877	1.53	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69654	0.941;0.965	T	0.27571	-1.0070	10	0.30854	T	0.27	-9.7185	15.9544	0.79871	1.0:0.0:0.0:0.0	.	501;573	Q86T82-2;Q86T82	.;UBP37_HUMAN	T	573;573;501;573	ENSP00000258399:S573T;ENSP00000393662:S573T;ENSP00000400902:S501T;ENSP00000396585:S573T	ENSP00000258399:S573T	S	-	1	0	USP37	219055155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.261000	0.78400	2.170000	0.68504	0.533000	0.62120	TCG		0.388	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		5	143	0	0	0	1	0	5	143					T	219346911	A	T	219346911	3	4	142	1	0	0	0	0	1	0	0	0	17065	304	11	5	1262	5	USP37	2	219346911	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		219346911	23852462	1	2477											
AKIRIN2	55122	broad.mit.edu	37	6	88385612	88385612	+	Silent	SNP	T	T	C	rs183921090		TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr6:88385612T>C	ENST00000257787.5	-	4	1091	c.567A>G	c.(565-567)caA>caG	p.Q189Q		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	189					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						GTCGCATTATTTGATCATGCG	0.323													T|||	1	0.000199681	0	0.0014	5008	,	,		19769	0		0	False		,,,				2504	0					uc003pmk.3																			0				large_intestine(4)	4						c.(565-567)caA>caG		Homo sapiens akirin 2 (AKIRIN2), mRNA.							86	81	83					6																	88385612		2203	4300	6503	SO:0001819	synonymous_variant	55122				innate immune response|transcription, DNA-dependent	transcriptional repressor complex		g.chr6:88385612T>C	BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"chromosome 6 open reading frame 166"	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.567A>G	6.37:g.88385612T>C			Somatic					p.Q189Q	NM_018064	NP_060534	WXS	Illumina GAIIx	Phase_I	Q53H80	AKIR2_HUMAN			3	1150	-			189					Q9BQB1	Silent	SNP	ENST00000257787.5	37	c.567A>G	CCDS5013.1																																																																																				0.323	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064		3	67	0	0	0	1	0	3	67					C	88385612	T	C	88385612	2	2	142	1	0	0	0	0	0	0	0	1	462	1838	64	3		3	AKIRIN2	6	88385612	Silent	SNP	T	TCGA-E3-A3E2-01A-11D-A20C-08		88385612	82729455	2	2478											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	59	0	0	0	1	0	25	59					T	140453136	A	T	140453136	3	4	142	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		140453136	18685527	3	2479											
GDF6	392255	broad.mit.edu	37	8	97157245	97157245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr8:97157245delG	ENST00000287020.5	-	2	1013	c.914delC	c.(913-915)ccgfs	p.P305fs		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	305					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					gcccgcgcccgggcccgcAGC	0.776																																						uc003yhp.3																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(913-915)ccgfs		Homo sapiens growth differentiation factor 6 (GDF6), mRNA.							2	2	2					8																	97157245		1105	2240	3345	SO:0001589	frameshift_variant	392255				BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157245delG		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.914delC	8.37:g.97157245delG	ENSP00000287020:p.Pro305fs		Somatic					p.P305fs	NM_001001557	NP_001001557	WXS	Illumina GAIIx	Phase_I	Q6KF10	GDF6_HUMAN			1	1014	-	Breast(36;2.67e-05)		305					Q6PI58	Frame_Shift_Del	DEL	ENST00000287020.5	37	c.914delC	CCDS34926.1																																																																																				0.776	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		2	4						2	4	---	---	---	---	-	97157245	G	-	97157245	7	5	142	1	0	1	0	1	0	0	0	0	6317	1116	39	0	457	0	GDF6	8	97157245	Frame_Shift_Del	DEL	G	TCGA-E3-A3E2-01A-11D-A20C-08		97157245	49206777	4	2480											
UNC13B	10497	broad.mit.edu	37	9	35396935	35396935	+	Splice_Site	SNP	G	G	A			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr9:35396935G>A	ENST00000378495.3	+	27	3507		c.e27+1		UNC13B_ENST00000396787.1_Splice_Site|UNC13B_ENST00000481299.1_Splice_Site|UNC13B_ENST00000378496.4_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						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)			GAAGGATGGAGTAAGTCAGGG	0.552																																						uc003zwr.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.e27+1		Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.							119	122	121					9																	35396935		2203	4300	6503	SO:0001630	splice_region_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity	g.chr9:35396935G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3285+1G>A	9.37:g.35396935G>A			Somatic				UNC13B_uc003zwq.3_Splice_Site_p.G1095_splice	p.G1095_splice	NM_006377	NP_006368	WXS	Illumina GAIIx	Phase_I	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		27	3577	+	all_epithelial(49;0.212)		1095			MHD1.		Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37	c.3285_splice	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642409	0.87859	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8306	0.96634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13B	35386935	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.760000	0.98935	2.682000	0.91365	0.563000	0.77884	.		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Intron	4	171	0	0	0	1	0	4	171					A	35396935	G	A	35396935	5	1	142	1	0	0	0	0	0	0	1	0	16982	1043	36	2	3392	2	UNC13B	9	35396935	Splice_Site	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		35396935	105816496	5	2481											
TXNRD1	7296	broad.mit.edu	37	12	104651840	104651840	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr12:104651840delT	ENST00000525566.1	+	3	311	c.287delT	c.(286-288)cttfs	p.L96fs	TXNRD1_ENST00000526006.1_3'UTR|TXNRD1_ENST00000429002.2_Frame_Shift_Del_p.L96fs	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	96	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TATTTTGTGCTTGAACTTGAT	0.308																																					Ovarian(139;555 1836 9186 9946 10884)	uc021rcx.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(286-288)cttfs		Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.							133	118	123					12																	104651840		1811	4048	5859	SO:0001589	frameshift_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104651840delT		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.287delT	12.37:g.104651840delT	ENSP00000434516:p.Leu96fs		Somatic				TXNRD1_uc001tkm.1_Frame_Shift_Del_p.L99fs	p.L96fs	NM_001093771		WXS	Illumina GAIIx	Phase_I	Q16881	TRXR1_HUMAN			2	309	+			96			Glutaredoxin.		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Frame_Shift_Del	DEL	ENST00000525566.1	37	c.287delT	CCDS53820.1																																																																																				0.308	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		2	4						2	4	---	---	---	---	-	104651840	T	-	104651840	7	5	142	1	0	1	0	1	0	0	0	0	16804	1609	56	0	297	0	TXNRD1	12	104651840	Frame_Shift_Del	DEL	T	TCGA-E3-A3E2-01A-11D-A20C-08		104651840	29200055	6	2482											
ST8SIA2	8128	broad.mit.edu	37	15	92981586	92981586	+	Silent	SNP	G	G	A			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr15:92981586G>A	ENST00000268164.3	+	4	531	c.294G>A	c.(292-294)aaG>aaA	p.K98K	ST8SIA2_ENST00000539113.1_Silent_p.K77K	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	98					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|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)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TTCACAGGAAGCAGATTTTAA	0.488																																						uc002bra.3																			0		p.R97G(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(292-294)aaG>aaA		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.							127	141	136					15																	92981586		2198	4298	6496	SO:0001819	synonymous_variant	8128				N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981586G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.294G>A	15.37:g.92981586G>A			Somatic				ST8SIA2_uc002brb.3_Silent_p.K77K	p.K98K	NM_006011	NP_006002	WXS	Illumina GAIIx	Phase_I	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		3	449	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		98					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.294G>A	CCDS10372.1																																																																																				0.488	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		4	208	0	0	0	1	0	4	208					A	92981586	G	A	92981586	2	1	142	1	0	0	0	0	0	0	0	1	15231	962	34	2		2	ST8SIA2	15	92981586	Silent	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		92981586	9549806	7	2483											
OR3A3	8392	broad.mit.edu	37	17	3324703	3324703	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr17:3324703A>G	ENST00000291231.1	+	1	842	c.842A>G	c.(841-843)aAg>aGg	p.K281R		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	281					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)|large_intestine(3)|lung(3)|prostate(1)	9						GACAAGGATAAGGGGGTTGGG	0.507																																						uc010vrd.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(841-843)aAg>aGg		Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.							135	131	133					17																	3324703		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324703A>G	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"GPCR / Class A : Olfactory receptors"	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.842A>G	17.37:g.3324703A>G	ENSP00000291231:p.Lys281Arg		Somatic					p.K281R	NM_012373	NP_036505	WXS	Illumina GAIIx	Phase_I	P47888	OR3A3_HUMAN			0	842	+			281					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.842A>G	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	6.702	0.498248	0.12762	.	.	ENSG00000159961	ENST00000291231	T	0.00188	8.59	2.56	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.38733	1.17	0.09310	N	1	B	0.33919	0.432	B	0.40940	0.344	T	0.12941	-1.0528	9	0.38643	T	0.18	.	4.3915	0.11343	0.6075:0.1985:0.0:0.194	.	281	P47888	OR3A3_HUMAN	R	281	ENSP00000291231:K281R	ENSP00000291231:K281R	K	+	2	0	OR3A3	3271453	0.000000	0.05858	0.530000	0.27963	0.833000	0.47200	0.607000	0.24209	0.345000	0.23873	0.533000	0.62120	AAG		0.507	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			3	193	0	0	0	1	0	3	193					G	3324703	A	G	3324703	3	3	142	1	0	0	0	0	1	0	0	0	11039	72	3	3	844	3	OR3A3	17	3324703	Missense_Mutation	SNP	A	TCGA-E3-A3E2-01A-11D-A20C-08		3324703	77870507	8	2484											
GDPD1	284161	broad.mit.edu	37	17	57298002	57298002	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr17:57298002C>T	ENST00000284116.4	+	1	169	c.32C>T	c.(31-33)tCt>tTt	p.S11F	GDPD1_ENST00000581276.1_Missense_Mutation_p.S11F|GDPD1_ENST00000581140.1_Missense_Mutation_p.S11F	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	11					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TACCTTCTCTCTACGCTAGGA	0.532											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ixk.2																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(31-33)tCt>tTt		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.							155	145	149					17																	57298002		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57298002C>T	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.32C>T	17.37:g.57298002C>T	ENSP00000284116:p.Ser11Phe		Somatic	OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1022	GDPD1_uc002ixj.3_Missense_Mutation_p.S11F|GDPD1_uc021uas.1_Missense_Mutation_p.S11F	p.S11F	NM_182569	NP_872375	WXS	Illumina GAIIx	Phase_I	Q8N9F7	GDPD1_HUMAN			0	175	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		11					A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.32C>T	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888664	0.52014	.	.	ENSG00000153982	ENST00000284116	T	0.31247	1.5	5.45	5.45	0.79879	.	0.055949	0.85682	D	0.000000	T	0.41766	0.1173	L	0.57536	1.79	0.58432	D	0.999999	P;D	0.53151	0.93;0.958	B;P	0.48627	0.38;0.584	T	0.35649	-0.9780	10	0.66056	D	0.02	.	17.855	0.88760	0.0:1.0:0.0:0.0	.	11;11	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	F	11	ENSP00000284116:S11F	ENSP00000284116:S11F	S	+	2	0	GDPD1	54652784	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.130000	0.71663	2.563000	0.86464	0.563000	0.77884	TCT		0.532	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		55	115	0	0	0	1	0	55	115					T	57298002	C	T	57298002	3	4	142	1	0	0	0	0	1	0	0	0	6323	913	32	2	34	2	GDPD1	17	57298002	Missense_Mutation	SNP	C	TCGA-E3-A3E2-01A-11D-A20C-08	53973299	57298002	23897208	9	2485											
DOT1L	84444	broad.mit.edu	37	19	2222329	2222329	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E2-01A-11D-A20C-08	TCGA-E3-A3E2-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7adbf25b-0508-4625-9781-8fd3d054814e	6783d5e4-0cf6-4fdf-af00-edcb75c87770	g.chr19:2222329G>A	ENST00000398665.3	+	24	3197	c.3161G>A	c.(3160-3162)gGc>gAc	p.G1054D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1054					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		ACTGGTGCGGGCAGTGCCAAG	0.667																																						uc002lvb.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3160-3162)gGc>gAc		Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.							26	32	30					19																	2222329		2125	4237	6362	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222329G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3161G>A	19.37:g.2222329G>A	ENSP00000381657:p.Gly1054Asp		Somatic				DOT1L_uc002lvc.1_Missense_Mutation_p.G348D|DOT1L_uc002lve.1_3'UTR	p.G1054D	NM_032482	NP_115871	WXS	Illumina GAIIx	Phase_I	Q8TEK3	DOT1L_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)	23	3197	+		Hepatocellular(1079;0.137)	1054					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.3161G>A	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.69|10.69	1.421455|1.421455	0.25639|0.25639	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.27557	.|1.66	4.53|4.53	3.48|3.48	0.39840|0.39840	.|.	.|0.762845	.|0.12687	.|N	.|0.447491	T|T	0.31231|0.31231	0.0790|0.0790	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44429	.|0.608;0.835	.|B;P	.|0.44990	.|0.076;0.466	T|T	0.11397|0.11397	-1.0589|-1.0589	5|10	.|0.87932	.|D	.|0	-5.4955|-5.4955	12.3829|12.3829	0.55317|0.55317	0.0:0.3261:0.6739:0.0|0.0:0.3261:0.6739:0.0	.|.	.|1054;1054	.|Q8TEK3;Q8TEK3-2	.|DOT1L_HUMAN;.	T|D	841|1054	.|ENSP00000381657:G1054D	.|ENSP00000221482:G1054D	A|G	+|+	1|2	0|0	DOT1L|DOT1L	2173329|2173329	0.032000|0.032000	0.19561|0.19561	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	2.263000|2.263000	0.43293|0.43293	0.887000|0.887000	0.36136|0.36136	0.462000|0.462000	0.41574|0.41574	GCA|GGC		0.667	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	47	0	0	0	1	0	3	47					A	2222329	G	A	2222329	3	1	142	1	0	0	0	0	1	0	0	0	4709	1203	42	2	3255	2	DOT1L	19	2222329	Missense_Mutation	SNP	G	TCGA-E3-A3E2-01A-11D-A20C-08		2222329	56906654	10	2486											
CSMD2	114784	broad.mit.edu	37	1	34037304	34037304	+	Silent	SNP	A	A	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr1:34037304A>G	ENST00000373381.4	-	51	7961	c.7785T>C	c.(7783-7785)agT>agC	p.S2595S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2597	Sushi 16. {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)				CGCTGATGCTACTGACATCAG	0.473																																						uc001bxm.1																			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.(7783-7785)agT>agC		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							81	74	76					1																	34037304		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34037304A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7785T>C	1.37:g.34037304A>G			Somatic				CSMD2_uc001bxn.1_Silent_p.S2597S	p.S2595S	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			50	7962	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2597			Sushi 16.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.7785T>C																																																																																					0.473	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		18	45	0	0	0	1	0	18	45					G	34037304	A	G	34037304	2	3	143	1	0	0	0	0	0	0	0	1	3945	388	14	3		3	CSMD2	1	34037304	Silent	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		34037304	215213317	1	2487											
SH2D6	284948	broad.mit.edu	37	2	85663670	85663670	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr2:85663670G>C	ENST00000340326.2	+	4	654	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	SH2D6_ENST00000389938.2_Missense_Mutation_p.E133Q|Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	165	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CGGCAGCCGGGAACTCACCTG	0.647																																						uc002spq.3																			0				central_nervous_system(1)|lung(2)	3						c.(493-495)Gaa>Caa		Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.							77	67	70					2																	85663670		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85663670G>C	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"SH2 domain containing"	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.493G>C	2.37:g.85663670G>C	ENSP00000341867:p.Glu165Gln		Somatic				SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript	p.E165Q	NM_198482	NP_940884	WXS	Illumina GAIIx	Phase_I	Q7Z4S9	SH2D6_HUMAN			3	654	+			165			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.493G>C	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	4.542	0.100597	0.08731	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	T	0.76448	-1.02	5.07	4.19	0.49359	SH2 motif (1);	0.593369	0.14543	N	0.313185	T	0.56093	0.1962	N	0.04018	-0.295	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44128	-0.9348	10	0.28530	T	0.3	-0.4466	10.3355	0.43847	0.0:0.6501:0.3499:0.0	.	165	Q7Z4S9	SH2D6_HUMAN	Q	133;165	ENSP00000341867:E165Q	ENSP00000341867:E165Q	E	+	1	0	SH2D6	85517181	0.004000	0.15560	0.067000	0.19924	0.207000	0.24258	1.328000	0.33758	1.288000	0.44600	0.561000	0.74099	GAA		0.647	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		14	61	0	0	0	1	0	14	61					C	85663670	G	C	85663670	3	2	143	1	0	0	0	0	1	0	0	0	14238	1175	41	4	507	4	SH2D6	2	85663670	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		85663670	157535703	2	2488											
STXBP5L	9515	broad.mit.edu	37	3	120941872	120941872	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr3:120941872G>C	ENST00000273666.6	+	11	1250	c.979G>C	c.(979-981)Ggt>Cgt	p.G327R	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G327R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	327					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATATTCTCTGGTGGGCTGTC	0.363																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(979-981)Ggt>Cgt		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							150	140	143					3																	120941872		1869	4093	5962	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941872G>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.979G>C	3.37:g.120941872G>C	ENSP00000273666:p.Gly327Arg		Somatic				STXBP5L_uc011bji.2_Missense_Mutation_p.G327R	p.G327R	NM_014980	NP_055795	WXS	Illumina GAIIx	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	10	1119	+			327					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.979G>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278167	0.80692	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.70986	0.11;0.2;0.01;-0.53;-0.1;0.11	4.65	4.65	0.58169	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.97110	0.939;1.0	D	0.87482	0.2421	10	0.87932	D	0	-24.7486	17.7198	0.88348	0.0:0.0:1.0:0.0	.	327;327	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	327	ENSP00000273666:G327R;ENSP00000420019:G327R;ENSP00000419627:G327R;ENSP00000420287:G327R;ENSP00000420666:G327R;ENSP00000420167:G327R	ENSP00000273666:G327R	G	+	1	0	STXBP5L	122424562	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.397000	0.81536	0.462000	0.41574	GGT		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			7	84	0	0	0	1	0	7	84					C	120941872	G	C	120941872	3	2	143	1	0	0	0	0	1	0	0	0	15356	1348	47	4	1017	4	STXBP5L	3	120941872	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		120941872	77080558	3	2489											
NFXL1	152518	broad.mit.edu	37	4	47916171	47916171	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr4:47916171delC	ENST00000507489.1	-	2	226	c.50delG	c.(49-51)ggafs	p.G17fs	NFXL1_ENST00000381538.3_Frame_Shift_Del_p.G17fs|NFXL1_ENST00000329043.3_Frame_Shift_Del_p.G17fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	17						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTGGCCCGTCCCCGGGATCG	0.647																																						uc010igh.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(49-51)ggafs		Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.							4	6	5					4																	47916171		2084	4148	6232	SO:0001589	frameshift_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47916171delC	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.50delG	4.37:g.47916171delC	ENSP00000422037:p.Gly17fs		Somatic				BC041434_uc003gxr.1_5'Flank|NFXL1_uc003gxp.3_Frame_Shift_Del_p.G17fs|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Frame_Shift_Del_p.G17fs	p.G17fs	NM_152995	NP_694540	WXS	Illumina GAIIx	Phase_I	Q6ZNB6	NFXL1_HUMAN			1	227	-			17					B1Q2K1|Q86VG1|Q8WVH1	Frame_Shift_Del	DEL	ENST00000507489.1	37	c.50delG	CCDS3478.2																																																																																				0.647	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		2	4						2	4	---	---	---	---	-	47916171	C	-	47916171	7	5	143	1	0	1	0	1	0	0	0	0	10388	855	30	0	2773	0	NFXL1	4	47916171	Frame_Shift_Del	DEL	C	TCGA-E3-A3E3-01A-11D-A20C-08		47916171	143238105	4	2490											
MCM9	254394	broad.mit.edu	37	6	119245206	119245206	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr6:119245206T>A	ENST00000316316.6	-	3	677	c.391A>T	c.(391-393)Att>Ttt	p.I131F	MCM9_ENST00000316068.3_Missense_Mutation_p.I131F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	131					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CTTGTTCGAATCACTGTCCCA	0.448																																						uc021zeh.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(391-393)Att>Ttt		Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.							254	257	256					6																	119245206		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119245206T>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.391A>T	6.37:g.119245206T>A	ENSP00000314505:p.Ile131Phe		Somatic				MCM9_uc003pyh.3_Missense_Mutation_p.I131F	p.I131F	NM_017696	NP_060166	WXS	Illumina GAIIx	Phase_I	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	1	406	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	131					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.391A>T	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725913	0.89298	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	T;T;T	0.05199	3.48;3.48;3.48	5.48	5.48	0.80851	.	.	.	.	.	T	0.20577	0.0495	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.01956	-1.1240	9	0.62326	D	0.03	.	15.5716	0.76341	0.0:0.0:0.0:1.0	.	131	Q9NXL9-2	.	F	131	ENSP00000314505:I131F;ENSP00000312870:I131F;ENSP00000394776:I131F	ENSP00000312870:I131F	I	-	1	0	MCM9	119286905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.342000	0.79310	2.072000	0.62099	0.460000	0.39030	ATT		0.448	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		6	285	0	0	0	1	0	6	285					A	119245206	T	A	119245206	3	1	143	1	0	0	0	0	1	0	0	0	9394	1435	50	5	804	5	MCM9	6	119245206	Missense_Mutation	SNP	T	TCGA-E3-A3E3-01A-11D-A20C-08		119245206	51869861	5	2491											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	40	0	0	0	1	0	24	40					T	140453136	A	T	140453136	3	4	143	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		140453136	18685527	6	2492											
NFATC4	4776	broad.mit.edu	37	14	24845682	24845682	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr14:24845682C>G	ENST00000250373.4	+	9	2380	c.2239C>G	c.(2239-2241)Cct>Gct	p.P747A	NFATC4_ENST00000555393.1_Missense_Mutation_p.P35A|NFATC4_ENST00000556169.1_Missense_Mutation_p.P735A|NFATC4_ENST00000413692.2_Missense_Mutation_p.P810A|NFATC4_ENST00000554050.1_Missense_Mutation_p.P747A|NFATC4_ENST00000554473.1_Missense_Mutation_p.P282A|NFATC4_ENST00000556759.1_Missense_Mutation_p.P282A|NFATC4_ENST00000555167.1_Missense_Mutation_p.P282A|NFATC4_ENST00000554344.1_Missense_Mutation_p.P677A|NFATC4_ENST00000424781.2_Missense_Mutation_p.P760A|NFATC4_ENST00000539237.2_Missense_Mutation_p.P779A|NFATC4_ENST00000553469.1_Missense_Mutation_p.P779A|NFATC4_ENST00000557767.1_Missense_Mutation_p.P35A|NFATC4_ENST00000553879.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555590.1_Missense_Mutation_p.P760A|NFATC4_ENST00000554661.1_Missense_Mutation_p.P677A|NFATC4_ENST00000557451.1_Missense_Mutation_p.P677A|NFATC4_ENST00000554966.1_Missense_Mutation_p.P760A|NFATC4_ENST00000554591.1_Missense_Mutation_p.P810A|NFATC4_ENST00000555802.1_Missense_Mutation_p.P35A|NFATC4_ENST00000555453.1_Missense_Mutation_p.P735A|NFATC4_ENST00000422617.3_Missense_Mutation_p.P735A|NFATC4_ENST00000553708.1_Missense_Mutation_p.P747A|NFATC4_ENST00000556279.1_Missense_Mutation_p.P779A	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	747	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGGCATGCCCCCTCTGTACCC	0.617																																						uc010tol.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2428-2430)Cct>Gct		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.							49	53	52					14																	24845682		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845682C>G	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2239C>G	14.37:g.24845682C>G	ENSP00000250373:p.Pro747Ala		Somatic				NFATC4_uc010alr.3_Missense_Mutation_p.P810A|NFATC4_uc010tok.2_Missense_Mutation_p.P810A|NFATC4_uc010too.2_Missense_Mutation_p.P760A|NFATC4_uc010tom.2_Missense_Mutation_p.P760A|NFATC4_uc010ton.2_Missense_Mutation_p.P760A|NFATC4_uc010toq.2_Missense_Mutation_p.P779A|NFATC4_uc010alt.3_Missense_Mutation_p.P779A|NFATC4_uc010top.2_Missense_Mutation_p.P779A|NFATC4_uc001wpc.3_Missense_Mutation_p.P747A|NFATC4_uc010tor.2_Missense_Mutation_p.P747A|NFATC4_uc010tos.2_Missense_Mutation_p.P677A|NFATC4_uc010tot.2_Missense_Mutation_p.P735A|NFATC4_uc010tou.2_Missense_Mutation_p.P677A|NFATC4_uc010tov.2_Missense_Mutation_p.P735A|NFATC4_uc010tow.2_Missense_Mutation_p.P677A|NFATC4_uc010alv.3_Missense_Mutation_p.P735A|NFATC4_uc010tox.2_Missense_Mutation_p.P677A|NFATC4_uc001wpd.3_Missense_Mutation_p.P282A|NFATC4_uc010toy.2_Missense_Mutation_p.P282A|NFATC4_uc010toz.2_Missense_Mutation_p.P282A|NFATC4_uc010tpa.2_Missense_Mutation_p.P35A|NFATC4_uc010tpb.2_Missense_Mutation_p.P35A	p.P810A	NM_001198966	NP_001185895	WXS	Illumina GAIIx	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	9	2544	+			747			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2428C>G	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990037	0.35131	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	3.18;3.26;3.32;3.29;3.27;3.25;3.31;3.28;3.29;3.34;3.25;3.02;3.02;2.99;2.96;2.97;2.93;3.01;1.58;1.53;1.52;1.0;1.04	5.13	4.22	0.49857	.	0.106298	0.42964	N	0.000629	T	0.26810	0.0656	N	0.19112	0.55	0.27154	N	0.961336	B;B;B;B;B;B;B;B;B;B;B;B;B	0.12013	0.001;0.001;0.0;0.001;0.0;0.001;0.001;0.003;0.005;0.001;0.001;0.003;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17098	0.001;0.004;0.002;0.002;0.002;0.002;0.002;0.005;0.017;0.004;0.004;0.005;0.001	T	0.13818	-1.0495	10	0.22109	T	0.4	-3.7481	11.169	0.48560	0.0:0.8056:0.1944:0.0	.	735;735;779;779;760;760;760;810;810;735;779;810;747	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	A	810;810;760;760;760;779;779;779;747;747;747;677;677;677;735;677;735;735;282;282;282;35;35;35	ENSP00000388910:P810A;ENSP00000452039:P810A;ENSP00000451224:P760A;ENSP00000450644:P760A;ENSP00000388668:P760A;ENSP00000439350:P779A;ENSP00000452270:P779A;ENSP00000451502:P779A;ENSP00000451151:P747A;ENSP00000250373:P747A;ENSP00000450590:P747A;ENSP00000452349:P677A;ENSP00000450469:P677A;ENSP00000450733:P677A;ENSP00000451454:P735A;ENSP00000451284:P677A;ENSP00000396788:P735A;ENSP00000450686:P735A;ENSP00000450810:P282A;ENSP00000451183:P282A;ENSP00000451395:P282A;ENSP00000451801:P35A;ENSP00000451590:P35A	ENSP00000250373:P747A	P	+	1	0	NFATC4	23915522	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.653000	0.24902	1.351000	0.45789	0.561000	0.74099	CCT		0.617	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		16	33	0	0	0	1	0	16	33					G	24845682	C	G	24845682	3	3	143	1	0	0	0	0	1	0	0	0	10365	623	22	4	2466	4	NFATC4	14	24845682	Missense_Mutation	SNP	C	TCGA-E3-A3E3-01A-11D-A20C-08		24845682	82503858	7	2493											
CHD2	1106	broad.mit.edu	37	15	93552546	93552547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr15:93552546_93552547insG	ENST00000394196.4	+	35	5653_5654	c.4585_4586insG	c.(4585-4587)tggfs	p.W1529fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.W1529fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1529					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CATCAAACTCTGGAGGAGGTAA	0.495																																						uc002bsp.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4585-4587)tggfs		Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93552546_93552547insG	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4587dupG	15.37:g.93552548_93552548dupG	ENSP00000377747:p.Trp1529fs		Somatic				CHD2_uc002bso.1_Frame_Shift_Ins_p.W1529fs	p.W1529fs	NM_001271	NP_001262	WXS	Illumina GAIIx	Phase_I	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		34	5160_5161	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1529					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4585_4586insG	CCDS10374.2																																																																																				0.495	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		19	40						19	40	---	---	---	---	G	93552547	-	G	93552546	7	5	143	1	0	1	1	0	0	0	0	0	3325	1580	55	0	4723	0	CHD2	15	93552546	Frame_Shift_Ins	INS	-	TCGA-E3-A3E3-01A-11D-A20C-08		93552546	8978846	8	2494											
FBXO47	494188	broad.mit.edu	37	17	37101328	37101328	+	Missense_Mutation	SNP	A	A	C	rs370821382		TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr17:37101328A>C	ENST00000378079.2	-	7	877	c.678T>G	c.(676-678)caT>caG	p.H226Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	226										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GATGTGTCCAATGATCAAGGA	0.388																																						uc002hrc.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(676-678)caT>caG		Homo sapiens F-box protein 47 (FBXO47), mRNA.							154	134	141					17																	37101328		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37101328A>C		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.678T>G	17.37:g.37101328A>C	ENSP00000367319:p.His226Gln		Somatic					p.H226Q	NM_001008777	NP_001008777	WXS	Illumina GAIIx	Phase_I	Q5MNV8	FBX47_HUMAN			6	878	-			226					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.678T>G	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.416335	0.62511	.	.	ENSG00000204952	ENST00000378079	T	0.69561	-0.41	5.53	-3.45	0.04781	.	0.171825	0.53938	D	0.000046	T	0.60287	0.2257	L	0.60455	1.87	0.37069	D	0.898433	P	0.49961	0.93	P	0.44860	0.462	T	0.65705	-0.6103	10	0.54805	T	0.06	-3.1745	12.31	0.54924	0.6086:0.0:0.3914:0.0	.	226	Q5MNV8	FBX47_HUMAN	Q	226	ENSP00000367319:H226Q	ENSP00000367319:H226Q	H	-	3	2	FBXO47	34354854	0.506000	0.26139	0.964000	0.40570	0.948000	0.59901	-0.522000	0.06237	-0.729000	0.04875	-0.472000	0.04984	CAT		0.388	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		28	45	0	0	0	1	0	28	45					C	37101328	A	C	37101328	3	2	143	1	0	0	0	0	1	0	0	0	5756	98	4	5	700	5	FBXO47	17	37101328	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08		37101328	44093882	9	2495											
COL5A3	50509	broad.mit.edu	37	19	10114384	10114384	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr19:10114384G>C	ENST00000264828.3	-	6	791	c.706C>G	c.(706-708)Cag>Gag	p.Q236E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	236	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTTCACCCTGGGGAGCCTGG	0.607																																						uc002mmq.1																			0		p.Q236L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(706-708)Cag>Gag		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							96	79	85					19																	10114384		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114384G>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.706C>G	19.37:g.10114384G>C	ENSP00000264828:p.Gln236Glu		Somatic					p.Q236E	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		5	792	-			236			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.706C>G	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	7.530	0.658413	0.14645	.	.	ENSG00000080573	ENST00000264828	D	0.88975	-2.45	4.08	1.67	0.24075	.	1.436920	0.04656	N	0.408077	T	0.74099	0.3672	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65249	-0.6214	10	0.02654	T	1	.	6.0507	0.19785	0.0:0.2023:0.569:0.2286	.	236	P25940	CO5A3_HUMAN	E	236	ENSP00000264828:Q236E	ENSP00000264828:Q236E	Q	-	1	0	COL5A3	9975384	0.425000	0.25498	0.026000	0.17262	0.697000	0.40408	2.581000	0.46077	1.000000	0.39049	0.456000	0.33151	CAG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	42	0	0	0	1	0	4	42					C	10114384	G	C	10114384	3	2	143	1	0	0	0	0	1	0	0	0	3698	1357	47	4	4779	4	COL5A3	19	10114384	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		10114384	49014599	10	2496											
PHKA2	5256	broad.mit.edu	37	X	18969292	18969292	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:18969292G>T	ENST00000379942.4	-	4	1049	c.384C>A	c.(382-384)gaC>gaA	p.D128E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	128					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)					GGCCCCACTGGTCGTCGCCCA	0.607																																						uc004cyv.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.(382-384)gaC>gaA		Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.							180	122	142					X																	18969292		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:18969292G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.384C>A	X.37:g.18969292G>T	ENSP00000369274:p.Asp128Glu		Somatic				PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Missense_Mutation_p.D70E	p.D128E	NM_000292	NP_000283	WXS	Illumina GAIIx	Phase_I	P46019	KPB2_HUMAN			3	814	-	Hepatocellular(33;0.183)		128					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.384C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945741	0.53079	.	.	ENSG00000044446	ENST00000379942	D	0.89617	-2.54	6.02	4.23	0.50019	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.72479	2.2	0.53688	D	0.999979	B	0.15719	0.014	B	0.17979	0.02	T	0.82402	-0.0475	10	0.33940	T	0.23	-26.5293	10.5585	0.45131	0.2196:0.0:0.7804:0.0	.	128	P46019	KPB2_HUMAN	E	128	ENSP00000369274:D128E	ENSP00000369274:D128E	D	-	3	2	PHKA2	18879213	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.934000	0.40163	2.549000	0.85964	0.600000	0.82982	GAC		0.607	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		5	83	0	0	0	1	0	5	83					T	18969292	G	T	18969292	3	4	143	1	0	0	0	0	1	0	0	0	11844	1252	44	4	3443	4	PHKA2	23	18969292	Missense_Mutation	SNP	G	TCGA-E3-A3E3-01A-11D-A20C-08		18969292	136301268	11	2497											
KDM6A	7403	broad.mit.edu	37	X	44929202	44929202	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:44929202A>G	ENST00000377967.4	+	17	2343	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	KDM6A_ENST00000382899.4_Missense_Mutation_p.K775E|KDM6A_ENST00000543216.1_Missense_Mutation_p.K689E|KDM6A_ENST00000536777.1_Missense_Mutation_p.K723E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	768	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)		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						TGGAGATTCTAAGTCACCAGG	0.473			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	uc011mkz.2				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	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.(2458-2460)Aag>Gag		Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.							129	96	107					X																	44929202		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:44929202A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2302A>G	X.37:g.44929202A>G	ENSP00000367203:p.Lys768Glu		Somatic				KDM6A_uc022bvi.1_Missense_Mutation_p.K438E|KDM6A_uc010nhk.2_Missense_Mutation_p.K734E|KDM6A_uc004dge.4_Missense_Mutation_p.K768E|KDM6A_uc011mla.2_Missense_Mutation_p.K723E|KDM6A_uc011mlb.2_Missense_Mutation_p.K775E|KDM6A_uc011mlc.2_Missense_Mutation_p.K472E|KDM6A_uc022bvj.1_Missense_Mutation_p.K689E|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.K407E	p.K820E	NM_021140	NP_066963	WXS	Illumina GAIIx	Phase_I	O15550	KDM6A_HUMAN			17	2833	+			768					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2458A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902963	0.33628	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.08	5.08	0.68730	.	0.322422	0.37219	N	0.002196	T	0.43433	0.1247	N	0.22421	0.69	0.49483	D	0.999793	P;D;B;B;P;B	0.61697	0.956;0.99;0.152;0.139;0.956;0.039	P;D;B;B;D;B	0.72982	0.899;0.979;0.058;0.055;0.931;0.018	T	0.23547	-1.0185	10	0.21540	T	0.41	-0.357	14.2214	0.65830	1.0:0.0:0.0:0.0	.	407;775;723;820;734;768	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	E	465;768;723;775;689	ENSP00000367203:K768E;ENSP00000437405:K723E;ENSP00000372355:K775E;ENSP00000443078:K689E	ENSP00000334340:K465E	K	+	1	0	KDM6A	44814146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.858000	0.55979	1.805000	0.52779	0.486000	0.48141	AAG		0.473	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		26	21	0	0	0	1	0	26	21					G	44929202	A	G	44929202	3	3	143	1	0	0	0	0	1	0	0	0	8137	363	13	3	2368	3	KDM6A	23	44929202	Missense_Mutation	SNP	A	TCGA-E3-A3E3-01A-11D-A20C-08	25959910	44929202	110341358	12	2498											
FOXR2	139628	broad.mit.edu	37	X	55650462	55650462	+	Silent	SNP	C	C	T			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:55650462C>T	ENST00000339140.3	+	1	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	106					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(316-318)aaC>aaT		Homo sapiens forkhead box R2 (FOXR2), mRNA.							67	61	63					X																	55650462		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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.chrX:55650462C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.318C>T	X.37:g.55650462C>T			Somatic					p.N106N	NM_198451	NP_940853	WXS	Illumina GAIIx	Phase_I	Q6PJQ5	FOXR2_HUMAN			0	630	+			106						Silent	SNP	ENST00000339140.3	37	c.318C>T	CCDS35308.1																																																																																				0.542	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		9	13	0	0	0	1	0	9	13					T	55650462	C	T	55650462	2	4	143	1	0	0	0	0	0	0	0	1	6032	477	17	2		2	FOXR2	23	55650462	Silent	SNP	C	TCGA-E3-A3E3-01A-11D-A20C-08	10721260	55650462	99620098	13	2499											
LAMC2	3918	broad.mit.edu	37	1	183208652	183208652	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:183208652A>G	ENST00000264144.4	+	20	3088	c.3023A>G	c.(3022-3024)aAg>aGg	p.K1008R	LAMC2_ENST00000493293.1_Missense_Mutation_p.K1008R|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1008	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGAGGGCAAAGAATGGGGCC	0.542																																						uc001gqa.2																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(3022-3024)aAg>aGg		Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.							69	82	77					1																	183208652		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183208652A>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3023A>G	1.37:g.183208652A>G	ENSP00000264144:p.Lys1008Arg		Somatic				LAMC2_uc001gpz.4_Missense_Mutation_p.K1008R|LAMC2_uc010poa.2_Missense_Mutation_p.K708R	p.K1008R	NM_005562	NP_005553	WXS	Illumina GAIIx	Phase_I	Q13753	LAMC2_HUMAN			19	3337	+			1008			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.3023A>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	9.127	1.010388	0.19277	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.79352	2.37;-1.26	5.09	0.962	0.19643	.	0.731905	0.13646	N	0.372623	T	0.71929	0.3398	M	0.79475	2.455	0.27320	N	0.957063	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.58769	-0.7578	10	0.29301	T	0.29	.	4.5268	0.11985	0.5113:0.0:0.3458:0.1429	.	1008;1008;1008	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	R	1008	ENSP00000432063:K1008R;ENSP00000264144:K1008R	ENSP00000264144:K1008R	K	+	2	0	LAMC2	181475275	1.000000	0.71417	0.476000	0.27291	0.074000	0.17049	2.169000	0.42434	-0.083000	0.12618	0.402000	0.26972	AAG		0.542	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		43	77	0	0	0	1	0	43	77					G	183208652	A	G	183208652	3	3	144	1	0	0	0	0	1	0	0	0	8615	72	3	3	3101	3	LAMC2	1	183208652	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08		183208652	66041969	1	2500											
CFHR4	3080	broad.mit.edu	37	1	196883707	196883707	+	Intron	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:196883707C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Silent_p.Y174Y|CFHR4_ENST00000367416.2_Silent_p.Y420Y|CFHR4_ENST00000367418.2_Silent_p.Y174Y			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CATTGGACTACGAATGCTACG	0.393																																						uc001gtp.3																			0		p.Y420Y(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1261-1263)taC>taT		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.							119	108	112					1																	196883707		1931	4156	6087	SO:0001627	intron_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196883707C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34878C>T	1.37:g.196883707C>T			Somatic				CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.Y420Y|CFH_uc001gto.3_Silent_p.Y174Y	p.Y421Y	NM_001201550	NP_001188479	WXS	Illumina GAIIx	Phase_I	P08603	CFAH_HUMAN			7	1400	+			779			Sushi 7.		Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.1263C>T																																																																																					0.393	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		5	107	0	0	0	1	0	5	107					T	196883707	C	T	196883707	1	4	144	0	1	0	0	0	0	0	0	0	3287	547	19	1		1	CFHR4	1	196883707	Intron	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	13675055	196883707	52366914	2	2501											
HEATR5B	54497	broad.mit.edu	37	2	37227778	37227778	+	Silent	SNP	T	T	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:37227778T>C	ENST00000233099.5	-	33	5591	c.5496A>G	c.(5494-5496)acA>acG	p.T1832T	HEATR5B_ENST00000354531.2_Silent_p.T1743T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1832						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAATCAGAGCTGTCCACTGTT	0.428																																						uc002rpp.1																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5494-5496)acA>acG		Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.							140	137	138					2																	37227778		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37227778T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5496A>G	2.37:g.37227778T>C			Somatic				HEATR5B_uc010ezy.1_Silent_p.T327T	p.T1832T	NM_019024	NP_061897	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			32	5592	-		all_hematologic(82;0.21)	1832					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5496A>G	CCDS33181.1																																																																																				0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		53	98	0	0	0	1	0	53	98					C	37227778	T	C	37227778	2	2	144	1	0	0	0	0	0	0	0	1	7032	1567	55	3		3	HEATR5B	2	37227778	Silent	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		37227778	205971595	3	2502											
HDLBP	3069	broad.mit.edu	37	2	242179484	242179484	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:242179484G>C	ENST00000391975.1	-	18	2450	c.2223C>G	c.(2221-2223)ttC>ttG	p.F741L	HDLBP_ENST00000427183.2_Missense_Mutation_p.F708L|HDLBP_ENST00000310931.4_Missense_Mutation_p.F741L|HDLBP_ENST00000391976.2_Missense_Mutation_p.F741L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	741	KH 9. {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)		TGCCGATGAGGAATTTGTGGT	0.557																																						uc002wba.3																			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.(2221-2223)ttC>ttG		Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 1, mRNA.							173	163	166					2																	242179484		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding	g.chr2:242179484G>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2223C>G	2.37:g.242179484G>C	ENSP00000375836:p.Phe741Leu		Somatic				HDLBP_uc002waz.3_Missense_Mutation_p.F741L|HDLBP_uc021vzg.1_Missense_Mutation_p.F708L	p.F741L	NM_005336	NP_005327	WXS	Illumina GAIIx	Phase_I	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)	17	2456	-		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)	741			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2223C>G	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.4|23.4|23.4	4.410929|4.410929|4.410929	0.83340|0.83340|0.83340	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292|ENST00000427487	T;T;T;T;T|.|.	0.27720|.|.	1.65;1.65;1.65;1.65;1.91|.|.	5.59|5.59|5.59	3.79|3.79|3.79	0.43588|0.43588|0.43588	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75635|0.75635|0.75635	0.3876|0.3876|0.3876	M|M|M	0.84511|0.84511|0.84511	2.7|2.7|2.7	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P|.|.	0.89917|.|.	1.0;0.767|.|.	D;P|.|.	0.74674|.|.	0.984;0.685|.|.	T|T|T	0.77986|0.77986|0.77986	-0.2381|-0.2381|-0.2381	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-19.1857|-19.1857|-19.1857	11.5681|11.5681|11.5681	0.50818|0.50818|0.50818	0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0	.|.|.	708;741|.|.	E7EM71;Q00341|.|.	.;VIGLN_HUMAN|.|.	L|A|C	741;741;741;708;250|550|143	ENSP00000375836:F741L;ENSP00000375837:F741L;ENSP00000312042:F741L;ENSP00000399139:F708L;ENSP00000388876:F250L|.|.	ENSP00000312042:F741L|.|.	F|P|S	-|-|-	3|1|2	2|0|0	HDLBP|HDLBP|HDLBP	241828157|241828157|241828157	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.902000|0.902000|0.902000	0.53008|0.53008|0.53008	4.432000|4.432000|4.432000	0.59922|0.59922|0.59922	1.388000|1.388000|1.388000	0.46506|0.46506|0.46506	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	TTC|CCT|TCC		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		64	95	0	0	0	1	0	64	95					C	242179484	G	C	242179484	3	2	144	1	0	0	0	0	1	0	0	0	7025	1165	41	4	1627	4	HDLBP	2	242179484	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08	204951706	242179484	1019889	4	2503											
XYLB	9942	broad.mit.edu	37	3	38420767	38420767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:38420767C>T	ENST00000207870.3	+	15	1315	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	409					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TGTGGAGGTTCGAGCACTAAT	0.527																																						uc003cic.2																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(1225-1227)Cga>Tga		Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.							178	145	156					3																	38420767		2203	4300	6503	SO:0001587	stop_gained	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38420767C>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"xylulokinase (H. influenzae) homolog"			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1225C>T	3.37:g.38420767C>T	ENSP00000207870:p.Arg409*		Somatic				XYLB_uc011ayp.1_Nonsense_Mutation_p.R272*|XYLB_uc003cid.1_Nonsense_Mutation_p.R331*	p.R409*	NM_005108	NP_005099	WXS	Illumina GAIIx	Phase_I	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	14	1334	+			409					B2RAW4|B4DDT2|B9EH64	Nonsense_Mutation	SNP	ENST00000207870.3	37	c.1225C>T	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	38	6.787490	0.97837	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	.	.	.	5.16	2.16	0.27623	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9287	0.19126	0.1409:0.6393:0.1371:0.0826	.	.	.	.	X	409;272	.	ENSP00000207870:R409X	R	+	1	2	XYLB	38395771	0.993000	0.37304	0.693000	0.30195	0.869000	0.49853	2.959000	0.49153	1.141000	0.42275	0.561000	0.74099	CGA		0.527	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		65	67	0	0	0	1	0	65	67					T	38420767	C	T	38420767	4	4	144	1	0	0	0	0	0	1	0	0	17459	876	31	1	1283	1	XYLB	3	38420767	Nonsense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		38420767	159601663	5	2504											
CTNNB1	1499	broad.mit.edu	37	3	41280634	41280634	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:41280634A>G	ENST00000349496.5	+	15	2427	c.2147A>G	c.(2146-2148)tAt>tGt	p.Y716C	CTNNB1_ENST00000453024.1_Missense_Mutation_p.Y709C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.Y716C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000471014.1_3'UTR	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	716					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GATCCTAGCTATCGTTCTTTT	0.493		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(2146-2148)tAt>tGt		Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	Lithium(DB01356)						100	90	93					3																	41280634		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280634A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2147A>G	3.37:g.41280634A>G	ENSP00000344456:p.Tyr716Cys		Somatic				CTNNB1_uc003ckq.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckp.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckr.2_Missense_Mutation_p.Y716C|CTNNB1_uc011azf.1_Missense_Mutation_p.Y709C|CTNNB1_uc011azg.1_Missense_Mutation_p.Y644C	p.Y716C	NM_001904	NP_001895	WXS	Illumina GAIIx	Phase_I	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	15	2303	+			716					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2147A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733511	0.48939	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.68	5.68	0.88126	.	0.052112	0.85682	D	0.000000	T	0.48241	0.1489	L	0.39898	1.24	0.58432	D	0.999999	P;P	0.46859	0.885;0.885	P;B	0.46718	0.525;0.423	T	0.48692	-0.9013	10	0.52906	T	0.07	-14.5439	15.934	0.79688	1.0:0.0:0.0:0.0	.	644;716	B4DSW9;P35222	.;CTNB1_HUMAN	C	716;716;716;709;716	ENSP00000385604:Y716C;ENSP00000379486:Y716C;ENSP00000344456:Y716C;ENSP00000411226:Y709C;ENSP00000379488:Y716C	ENSP00000344456:Y716C	Y	+	2	0	CTNNB1	41255638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.327000	0.79147	2.164000	0.68074	0.455000	0.32223	TAT		0.493	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		4	105	0	0	0	1	0	4	105					G	41280634	A	G	41280634	3	3	144	1	0	0	0	0	1	0	0	0	4016	449	16	3	2201	3	CTNNB1	3	41280634	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	2859867	41280634	156741796	6	2505											
MEP1A	4224	broad.mit.edu	37	6	46766859	46766859	+	Missense_Mutation	SNP	T	T	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:46766859T>C	ENST00000230588.4	+	5	212	c.203T>C	c.(202-204)cTg>cCg	p.L68P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	68	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAAATGGCCTGAGAGACCCA	0.428																																						uc011dwh.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(286-288)cTg>cCg		Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.							152	144	147					6																	46766859		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46766859T>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.203T>C	6.37:g.46766859T>C	ENSP00000230588:p.Leu68Pro		Somatic				MEP1A_uc010jzh.1_Missense_Mutation_p.L68P|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR	p.L96P	NM_005588	NP_005579	WXS	Illumina GAIIx	Phase_I	Q16819	MEP1A_HUMAN	Lung(136;0.192)		3	295	+			68			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.287T>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779676	0.49891	.	.	ENSG00000112818	ENST00000230588	T	0.28454	1.61	5.77	5.77	0.91146	Metallopeptidase, catalytic domain (1);	0.295969	0.32459	N	0.006070	T	0.40040	0.1101	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.991	P;P	0.62813	0.907;0.873	T	0.39981	-0.9587	10	0.87932	D	0	-5.6365	12.4895	0.55891	0.0:0.0:0.0:1.0	.	96;68	B7ZL91;Q16819	.;MEP1A_HUMAN	P	68	ENSP00000230588:L68P	ENSP00000230588:L68P	L	+	2	0	MEP1A	46874818	0.997000	0.39634	0.900000	0.35374	0.362000	0.29581	4.032000	0.57274	2.216000	0.71823	0.528000	0.53228	CTG		0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		3	126	0	0	0	1	0	3	126					C	46766859	T	C	46766859	3	2	144	1	0	0	0	0	1	0	0	0	9475	1580	55	3	221	3	MEP1A	6	46766859	Missense_Mutation	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		46766859	124348208	7	2506											
ASCC3	10973	broad.mit.edu	37	6	101253689	101253689	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:101253689A>G	ENST00000369162.2	-	5	1213	c.869T>C	c.(868-870)aTt>aCt	p.I290T	ASCC3_ENST00000522650.1_Missense_Mutation_p.I290T	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	290					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)		TCTATCCACAATTGTAATTCT	0.328																																						uc003pqk.3																			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.(868-870)aTt>aCt		Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.							60	60	60					6																	101253689		2203	4289	6492	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.chr6:101253689A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.869T>C	6.37:g.101253689A>G	ENSP00000358159:p.Ile290Thr		Somatic				ASCC3_uc011eai.1_Missense_Mutation_p.I192T|ASCC3_uc003pql.3_Missense_Mutation_p.I290T	p.I290T	NM_006828	NP_006819	WXS	Illumina GAIIx	Phase_I	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	4	1198	-		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)	290					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.869T>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895778	0.72639	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.45276	0.9;0.9	5.32	5.32	0.75619	.	0.124030	0.53938	D	0.000060	T	0.46776	0.1410	M	0.70275	2.135	0.80722	D	1	P;D	0.59767	0.919;0.986	P;P	0.53062	0.477;0.717	T	0.55237	-0.8172	10	0.87932	D	0	.	15.2754	0.73737	1.0:0.0:0.0:0.0	.	290;290	E7EW23;Q8N3C0	.;HELC1_HUMAN	T	290	ENSP00000358159:I290T;ENSP00000430769:I290T	ENSP00000358159:I290T	I	-	2	0	ASCC3	101360410	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.194000	0.77789	2.010000	0.58986	0.383000	0.25322	ATT		0.328	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		21	20	0	0	0	1	0	21	20					G	101253689	A	G	101253689	3	3	144	1	0	0	0	0	1	0	0	0	1033	101	4	3	5891	3	ASCC3	6	101253689	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	54486830	101253689	69861378	8	2507											
DYNC1I1	1780	broad.mit.edu	37	7	95664979	95664979	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:95664979G>A	ENST00000324972.6	+	13	1523	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G407R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G427R|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G407R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G424R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G427R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	444					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGCTGTTACCGGAATGGCTTT	0.493																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1330-1332)Gga>Aga		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							282	225	244					7																	95664979		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95664979G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1330G>A	7.37:g.95664979G>A	ENSP00000320130:p.Gly444Arg		Somatic				DYNC1I1_uc003uod.4_Missense_Mutation_p.G427R|DYNC1I1_uc003uob.3_Missense_Mutation_p.G407R|DYNC1I1_uc003uoe.4_Missense_Mutation_p.G424R|DYNC1I1_uc010lfl.3_Missense_Mutation_p.G433R	p.G444R	NM_004411	NP_004402	WXS	Illumina GAIIx	Phase_I	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		12	1607	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		444					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1330G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105214	0.20632	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.110872	0.64402	D	0.000010	T	0.68613	0.3020	N	0.03608	-0.345	0.51482	D	0.999927	B;B;B;B;B	0.22480	0.042;0.07;0.07;0.042;0.068	B;B;B;B;B	0.16722	0.007;0.016;0.016;0.007;0.016	T	0.66200	-0.5983	10	0.54805	T	0.06	-4.3923	19.0933	0.93238	0.0:0.0:1.0:0.0	.	427;424;427;444;407	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	427;444;407;424;407;427	ENSP00000392337:G427R;ENSP00000320130:G444R;ENSP00000438377:G407R;ENSP00000398118:G424R;ENSP00000352348:G407R;ENSP00000412444:G427R	ENSP00000320130:G444R	G	+	1	0	DYNC1I1	95502915	1.000000	0.71417	0.974000	0.42286	0.082000	0.17680	4.125000	0.57931	2.830000	0.97506	0.585000	0.79938	GGA		0.493	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		4	181	0	0	0	1	0	4	181					A	95664979	G	A	95664979	3	1	144	1	0	0	0	0	1	0	0	0	4842	1117	39	1	1376	1	DYNC1I1	7	95664979	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08		95664979	63473684	9	2508											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		42	60	0	0	0	1	0	42	60					T	140453136	A	T	140453136	3	4	144	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	44788157	140453136	18685527	10	2509											
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Missense_Mutation	SNP	T	T	C	rs571456178		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:30695491T>C	ENST00000256246.2	-	3	7234	c.7160A>G	c.(7159-7161)aAg>aGg	p.K2387R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388													T|||	1	0.000199681	0	0	5008	,	,		17240	0		0	False		,,,				2504	0.001					uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7159-7161)aAg>aGg		Homo sapiens testis expressed 15 (TEX15), mRNA.							183	183	183					8																	30695491		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695491T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7160A>G	8.37:g.30695491T>C	ENSP00000256246:p.Lys2387Arg		Somatic					p.K2387R	NM_031271	NP_112561	WXS	Illumina GAIIx	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	7160	-			2387						Missense_Mutation	SNP	ENST00000256246.2	37	c.7160A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	7.811	0.715712	0.15306	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	4.42	-1.4	0.08968	.	0.973914	0.08406	N	0.950726	T	0.09247	0.0228	L	0.44542	1.39	0.09310	N	1	B	0.14012	0.009	B	0.19946	0.027	T	0.42275	-0.9461	10	0.87932	D	0	.	3.8871	0.09103	0.5401:0.1053:0.0:0.3546	.	2387	Q9BXT5	TEX15_HUMAN	R	2387	ENSP00000256246:K2387R	ENSP00000256246:K2387R	K	-	2	0	TEX15	30815033	0.000000	0.05858	0.001000	0.08648	0.241000	0.25554	0.009000	0.13219	-0.018000	0.14079	0.379000	0.24179	AAG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			3	157	0	0	0	1	0	3	157					C	30695491	T	C	30695491	3	2	144	1	0	0	0	0	1	0	0	0	15776	1609	56	3	1217	3	TEX15	8	30695491	Missense_Mutation	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		30695491	115668531	11	2510											
MMP16	4325	broad.mit.edu	37	8	89053760	89053760	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:89053760A>T	ENST00000286614.6	-	10	2034	c.1753T>A	c.(1753-1755)Ttc>Atc	p.F585I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	585					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTGAACTGGAACACAGTGTAA	0.443																																						uc003yeb.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1753-1755)Ttc>Atc		Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.							170	147	155					8																	89053760		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053760A>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1753T>A	8.37:g.89053760A>T	ENSP00000286614:p.Phe585Ile		Somatic					p.F585I	NM_005941	NP_005932	WXS	Illumina GAIIx	Phase_I	P51512	MMP16_HUMAN			9	2035	-			585					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1753T>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110162	0.37242	.	.	ENSG00000156103	ENST00000286614	T	0.32023	1.47	5.62	4.47	0.54385	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.046344	0.85682	D	0.000000	T	0.23133	0.0559	L	0.31578	0.945	0.53688	D	0.999973	B	0.09022	0.002	B	0.22152	0.038	T	0.03630	-1.1018	10	0.28530	T	0.3	.	11.3582	0.49627	0.9291:0.0:0.0709:0.0	.	585	P51512	MMP16_HUMAN	I	585	ENSP00000286614:F585I	ENSP00000286614:F585I	F	-	1	0	MMP16	89122876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.237000	0.43061	0.968000	0.38212	0.482000	0.46254	TTC		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		4	119	0	0	0	1	0	4	119					T	89053760	A	T	89053760	3	4	144	1	0	0	0	0	1	0	0	0	9655	43	2	5	74	5	MMP16	8	89053760	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	58358269	89053760	57310262	12	2511											
TEK	7010	broad.mit.edu	37	9	27192585	27192585	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:27192585C>G	ENST00000380036.4	+	11	2030	c.1588C>G	c.(1588-1590)Cct>Gct	p.P530A	TEK_ENST00000519097.1_Missense_Mutation_p.P383A|TEK_ENST00000406359.4_Missense_Mutation_p.P487A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	530	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGAAGGGCATCCTGGACCTGT	0.517																																						uc003zqi.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1588-1590)Cct>Gct		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							94	79	84					9																	27192585		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27192585C>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1588C>G	9.37:g.27192585C>G	ENSP00000369375:p.Pro530Ala		Somatic				TEK_uc011lno.2_Missense_Mutation_p.P487A|TEK_uc011lnp.2_Missense_Mutation_p.P383A|TEK_uc003zqj.1_Missense_Mutation_p.P464A	p.P530A	NM_000459	NP_000450	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	10	2030	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	530			Fibronectin type-III 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1588C>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452078	0.63290	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.46	5.46	0.80206	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000213	T	0.68165	0.2971	L	0.59436	1.845	0.48087	D	0.999581	D;B;D;D	0.89917	0.999;0.382;0.999;1.0	D;P;D;D	0.87578	0.998;0.549;0.998;0.998	T	0.61903	-0.6967	10	0.20519	T	0.43	.	17.4862	0.87689	0.0:1.0:0.0:0.0	.	383;563;487;530	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	A	383;530;487;340	ENSP00000430686:P383A;ENSP00000369375:P530A;ENSP00000383977:P487A;ENSP00000428337:P340A	ENSP00000369375:P530A	P	+	1	0	TEK	27182585	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.862000	0.62976	2.565000	0.86533	0.655000	0.94253	CCT		0.517	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			4	113	0	0	0	1	0	4	113					G	27192585	C	G	27192585	3	3	144	1	0	0	0	0	1	0	0	0	15748	855	30	4	1630	4	TEK	9	27192585	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		27192585	114020846	13	2512											
PALM2	114299	broad.mit.edu	37	9	112705452	112705452	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:112705452A>G	ENST00000374531.2	+	7	961	c.887A>G	c.(886-888)aAg>aGg	p.K296R	PALM2_ENST00000448454.2_Missense_Mutation_p.K330R|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.K328R|PALM2_ENST00000483909.1_Missense_Mutation_p.K294R|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	296					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GAGACGAAAAAGGTGCTAGGC	0.498																																						uc004bei.2																			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.(982-984)aAg>aGg		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							153	135	141					9																	112705452		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112705452A>G	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.887A>G	9.37:g.112705452A>G	ENSP00000363656:p.Lys296Arg		Somatic				PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.K296R|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.K328R|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.K328R	NM_001136562	NP_001130034	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			6	1175	+			0					A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.983A>G	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965631	0.34659	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	6.16	5.03	0.67393	.	.	.	.	.	T	0.30727	0.0774	L	0.53617	1.68	0.80722	D	1	B;B	0.29232	0.01;0.238	B;B	0.29267	0.019;0.1	T	0.08452	-1.0721	9	0.72032	D	0.01	.	11.5662	0.50807	0.931:0.0:0.069:0.0	.	296;330	Q8IXS6;D3YTA4	PALM2_HUMAN;.	R	296;330;294;328;328	ENSP00000363656:K296R;ENSP00000400206:K330R;ENSP00000417525:K294R;ENSP00000323805:K328R;ENSP00000397839:K328R	ENSP00000397839:K328R	K	+	2	0	PALM2-AKAP2;PALM2	111745273	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.919000	0.63383	1.155000	0.42497	0.528000	0.53228	AAG		0.498	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		3	113	0	0	0	1	0	3	113					G	112705452	A	G	112705452	3	3	144	1	0	0	0	0	1	0	0	0	11409	72	3	3	1019	3	PALM2	9	112705452	Missense_Mutation	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08	85512867	112705452	28507979	14	2513											
GAPVD1	26130	broad.mit.edu	37	9	128099547	128099547	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:128099547C>T	ENST00000495955.1	+	17	2844	c.2554C>T	c.(2554-2556)Cat>Tat	p.H852Y	GAPVD1_ENST00000312123.9_Missense_Mutation_p.H831Y|GAPVD1_ENST00000265956.4_Missense_Mutation_p.H826Y|GAPVD1_ENST00000394105.2_Missense_Mutation_p.H879Y|GAPVD1_ENST00000470056.1_Missense_Mutation_p.H852Y|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H852Y|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H852Y|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H831Y			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	852					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAGGCCATCGCATCCACCACC	0.478																																						uc004bpp.3																			0		p.S878S(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2635-2637)Cat>Tat		Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.							84	83	83					9																	128099547		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099547C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2554C>T	9.37:g.128099547C>T	ENSP00000419063:p.His852Tyr		Somatic				GAPVD1_uc011lzs.1_Missense_Mutation_p.H852Y|GAPVD1_uc004bpq.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwx.3_Missense_Mutation_p.H852Y|GAPVD1_uc004bpr.3_Missense_Mutation_p.H831Y|GAPVD1_uc004bps.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwy.1_Missense_Mutation_p.H685Y	p.H879Y	NM_015635	NP_056450	WXS	Illumina GAIIx	Phase_I	Q14C86	GAPD1_HUMAN			15	2795	+			852					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2635C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978735|4.978735	0.92982|0.92982	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66066|0.66066	0.2752|0.2752	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;D	.|0.53745	.|0.908;0.851;0.908;0.908;0.908;0.962	.|D;P;D;D;D;D	.|0.66716	.|0.922;0.838;0.922;0.922;0.922;0.946	T|T	0.65586|0.65586	-0.6132|-0.6132	5|9	.|0.52906	.|T	.|0.07	.|.	19.8676|19.8676	0.96824|0.96824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|826;852;852;831;852;879	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	V|Y	688|852;879;852;826;831;852;852;852;831	.|.	.|ENSP00000265956:H826Y	A|H	+|+	2|1	0|0	GAPVD1|GAPVD1	127139368|127139368	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.994000|0.994000	0.84299|0.84299	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			22	37	0	0	0	1	0	22	37					T	128099547	C	T	128099547	3	4	144	1	0	0	0	0	1	0	0	0	6239	710	25	2	2693	2	GAPVD1	9	128099547	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	15394095	128099547	13113884	15	2514											
EIF3F	8665	broad.mit.edu	37	11	8015971	8015971	+	Splice_Site	SNP	A	A	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:8015971A>T	ENST00000533626.1	+	7	1279		c.e7-1		EIF3F_ENST00000537635.1_Splice_Site|EIF3F_ENST00000449102.2_Splice_Site|EIF3F_ENST00000309828.4_Splice_Site					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCTTCCGCAGCACTTTAAT	0.512																																						uc001mfw.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.e5-2		Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.							92	76	81					11																	8015971		2201	4296	6497	SO:0001630	splice_region_variant	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8015971A>T	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.654-1A>T	11.37:g.8015971A>T			Somatic				EIF3F_uc010rbj.2_Splice_Site_p.S69_splice	p.S218_splice	NM_003754	NP_003745	WXS	Illumina GAIIx	Phase_I	O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	1109	+			218						Splice_Site	SNP	ENST00000533626.1	37	c.654_splice	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566756	0.45694	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2157	0.59859	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3F	7972547	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.344000	0.90055	2.172000	0.68678	0.533000	0.62120	.		0.512	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	Intron	7	26	0	0	0	1	0	7	26					T	8015971	A	T	8015971	5	4	144	1	0	0	0	0	0	0	1	0	5016	202	7	5	670	5	EIF3F	11	8015971	Splice_Site	SNP	A	TCGA-E3-A3E5-01A-11D-A20C-08		8015971	126990545	16	2515											
LDHA	3939	broad.mit.edu	37	11	18421059	18421059	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:18421059C>G	ENST00000422447.3	+	3	481	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	LDHA_ENST00000379412.5_Missense_Mutation_p.L70V|LDHA_ENST00000227157.4_Missense_Mutation_p.L70V|LDHA_ENST00000396222.2_Missense_Mutation_p.L70V|LDHA_ENST00000430553.2_Missense_Mutation_p.L70V|LDHA_ENST00000540430.1_Missense_Mutation_p.L99V|LDHA_ENST00000542179.1_Missense_Mutation_p.L70V	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	70					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						ACATGGCAGCCTTTTCCTTAG	0.378																																						uc010rdd.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(295-297)Ctt>Gtt		Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 3, mRNA.	NADH(DB00157)						124	115	118					11																	18421059		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18421059C>G	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.208C>G	11.37:g.18421059C>G	ENSP00000395337:p.Leu70Val		Somatic				LDHA_uc001mok.3_Missense_Mutation_p.L70V|LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.L70V|LDHA_uc010rdc.1_Missense_Mutation_p.L70V|LDHA_uc021qep.1_Missense_Mutation_p.L70V	p.L99V	NM_001165414	NP_005557	WXS	Illumina GAIIx	Phase_I	P00338	LDHA_HUMAN			2	577	+			70					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.295C>G	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795916	0.70452	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000430553;ENST00000396222;ENST00000535451;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	L	0.45228	1.405	0.80722	D	1	B;B;B;B	0.20780	0.031;0.048;0.006;0.012	B;B;B;B	0.25884	0.026;0.064;0.02;0.016	T	0.77574	-0.2537	10	0.13853	T	0.58	-3.8792	18.9079	0.92471	0.0:1.0:0.0:0.0	.	99;70;70;70	B7Z5E3;B4DKQ2;F8W819;P00338	.;.;.;LDHA_HUMAN	V	70;70;70;70;70;70;70;70;99;70;70	ENSP00000395337:L70V;ENSP00000440161:L70V;ENSP00000406172:L70V;ENSP00000379524:L70V;ENSP00000444292:L70V;ENSP00000227157:L70V;ENSP00000441241:L70V;ENSP00000446415:L70V;ENSP00000445175:L99V;ENSP00000368722:L70V;ENSP00000445331:L70V	ENSP00000227157:L70V	L	+	1	0	LDHA	18377635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.523000	0.81856	2.768000	0.95171	0.655000	0.94253	CTT		0.378	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		52	79	0	0	0	1	0	52	79					G	18421059	C	G	18421059	3	3	144	1	0	0	0	0	1	0	0	0	8698	681	24	4	305	4	LDHA	11	18421059	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	10405088	18421059	116585457	17	2516											
TLN2	83660	broad.mit.edu	37	15	63069044	63069044	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr15:63069044G>A	ENST00000561311.1	+	42	5679	c.5449G>A	c.(5449-5451)Gaa>Aaa	p.E1817K	TLN2_ENST00000472902.1_Missense_Mutation_p.E210K|TLN2_ENST00000306829.6_Missense_Mutation_p.E1817K			Q9Y4G6	TLN2_HUMAN	talin 2	1817					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						GACGCTGAACGAAGCTGCCAG	0.567																																						uc002alb.4																			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.(5449-5451)Gaa>Aaa		Homo sapiens talin 2 (TLN2), mRNA.							105	85	91					15																	63069044		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.chr15:63069044G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5449G>A	15.37:g.63069044G>A	ENSP00000453508:p.Glu1817Lys		Somatic				TLN2_uc002alc.4_Missense_Mutation_p.E210K|TLN2_uc002ald.3_Missense_Mutation_p.E210K	p.E1817K	NM_015059	NP_055874	WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			39	5449	+			1817					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5449G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289539	0.59976	.	.	ENSG00000171914	ENST00000306829	T	0.67345	-0.26	5.48	5.48	0.80851	.	0.095557	0.64402	D	0.000001	T	0.80454	0.4626	M	0.74546	2.27	0.80722	D	1	P;D	0.76494	0.79;0.999	B;D	0.81914	0.444;0.995	T	0.75271	-0.3376	10	0.12430	T	0.62	-23.2006	18.9631	0.92684	0.0:0.0:1.0:0.0	.	861;1817	G1UI21;Q9Y4G6	.;TLN2_HUMAN	K	1817	ENSP00000303476:E1817K	ENSP00000303476:E1817K	E	+	1	0	TLN2	60856097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.768000	0.98965	2.567000	0.86603	0.563000	0.77884	GAA		0.567	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	84	0	0	0	1	0	3	84					A	63069044	G	A	63069044	3	1	144	1	0	0	0	0	1	0	0	0	15945	1059	37	1	5607	1	TLN2	15	63069044	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08		63069044	39462348	18	2517											
TCAP	8557	broad.mit.edu	37	17	37822184	37822184	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:37822184C>T	ENST00000309889.2	+	2	1499	c.326C>T	c.(325-327)aCc>aTc	p.T109I	PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|TCAP_ENST00000578283.1_Missense_Mutation_p.T85I			O15273	TELT_HUMAN	titin-cap	109					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGAGGACACCCCCATCCAG	0.662																																						uc002hsh.3																			0				kidney(1)|lung(1)	2						c.(325-327)aCc>aTc		Homo sapiens titin-cap (telethonin) (TCAP), mRNA.							33	33	33					17																	37822184		2202	4299	6501	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	Z disc|cytosol	structural constituent of muscle|titin Z domain binding|titin binding	g.chr17:37822184C>T	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.326C>T	17.37:g.37822184C>T	ENSP00000312624:p.Thr109Ile		Somatic				PNMT_uc002hsi.1_5'Flank	p.T109I	NM_003673	NP_003664	WXS	Illumina GAIIx	Phase_I	O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	340	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		109					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.326C>T	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514521	0.27123	.	.	ENSG00000173991	ENST00000309889	D	0.86956	-2.19	5.71	5.71	0.89125	.	0.165133	0.53938	D	0.000051	D	0.89118	0.6624	N	0.19112	0.55	0.46478	D	0.999065	D	0.76494	0.999	D	0.75020	0.985	D	0.90595	0.4540	10	0.72032	D	0.01	-28.1021	18.616	0.91303	0.0:1.0:0.0:0.0	.	109	O15273	TELT_HUMAN	I	109	ENSP00000312624:T109I	ENSP00000312624:T109I	T	+	2	0	TCAP	35075710	0.649000	0.27322	0.998000	0.56505	0.047000	0.14425	2.277000	0.43417	2.695000	0.91970	0.462000	0.41574	ACC		0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		17	15	0	0	0	1	0	17	15					T	37822184	C	T	37822184	3	4	144	1	0	0	0	0	1	0	0	0	15663	507	18	2	332	2	TCAP	17	37822184	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		37822184	43373026	19	2518											
DNAH17	8632	broad.mit.edu	37	17	76464923	76464923	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:76464923C>T	ENST00000585328.1	-	55	8663	c.8539G>A	c.(8539-8541)Gtt>Att	p.V2847I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2838I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2838	AAA 4. {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)			ACCGAGGGAACGTTCTTCACG	0.542																																						uc010dhp.2																			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.(8554-8556)Gtt>Att		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							81	86	84					17																	76464923		2099	4207	6306	SO:0001583	missense	8632							g.chr17:76464923C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8539G>A	17.37:g.76464923C>T	ENSP00000465516:p.Val2847Ile		Somatic				DNAH17_uc002jvs.3_Non-coding_Transcript	p.V2852I	NM_173628	NP_775899	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		54	8679	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8554G>A		.	.	.	.	.	.	.	.	.	.	T	1.910	-0.450907	0.04572	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.42513	0.97	4.99	-0.0733	0.13735	.	.	.	.	.	T	0.15219	0.0367	N	0.04260	-0.245	0.26065	N	0.981303	.	.	.	.	.	.	T	0.22556	-1.0213	7	0.18276	T	0.48	.	3.4582	0.07523	0.109:0.4773:0.1074:0.3063	.	.	.	.	I	2847;2838	ENSP00000374490:V2838I	ENSP00000300671:V2847I	V	-	1	0	DNAH17	73976518	0.001000	0.12720	0.884000	0.34674	0.330000	0.28571	0.033000	0.13754	0.171000	0.19730	-1.859000	0.00561	GTT		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	77	0	0	0	1	0	3	77					T	76464923	C	T	76464923	3	4	144	1	0	0	0	0	1	0	0	0	4601	536	19	1	4942	1	DNAH17	17	76464923	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08	38642739	76464923	4730287	20	2519											
ANKRD30B	374860	broad.mit.edu	37	18	14850291	14850291	+	Silent	SNP	T	T	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr18:14850291T>C	ENST00000358984.4	+	35	3297	c.3117T>C	c.(3115-3117)ctT>ctC	p.L1039L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1039										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAGCAACTTAGGAAAAAGT	0.294																																						uc010dlo.2																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3115-3117)ctT>ctC		Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.							70	61	64					18																	14850291		692	1574	2266	SO:0001819	synonymous_variant	374860							g.chr18:14850291T>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3117T>C	18.37:g.14850291T>C			Somatic				ANKRD30B_uc021uhy.1_Silent_p.L1039L|ANKRD30B_uc010xal.1_Silent_p.L181L	p.L1039L	NM_001145029	NP_001138501	WXS	Illumina GAIIx	Phase_I	Q9BXX2	AN30B_HUMAN			34	3297	+			1124					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.3117T>C	CCDS54182.1																																																																																				0.294	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		13	13	0	0	0	1	0	13	13					C	14850291	T	C	14850291	2	2	144	1	0	0	0	0	0	0	0	1	659	1741	61	3		3	ANKRD30B	18	14850291	Silent	SNP	T	TCGA-E3-A3E5-01A-11D-A20C-08		14850291	63226957	21	2520											
OAZ1	4946	broad.mit.edu	37	19	2272779	2272779	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:2272779delC	ENST00000602676.2	+	5	589	c.510delC	c.(508-510)gacfs	p.D170fs	OAZ1_ENST00000583542.4_Frame_Shift_Del_p.D178fs|OAZ1_ENST00000582888.4_Frame_Shift_Del_p.D168fs|OAZ1_ENST00000588673.2_Frame_Shift_Del_p.D199fs|OAZ1_ENST00000322297.4_Frame_Shift_Del_p.D169fs			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	170					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	TGCGAGCCGACCATGTCTTCA	0.632																																						uc002lvk.3																			0				endometrium(1)|lung(2)	3						c.(508-510)gacfs		Homo sapiens ornithine decarboxylase antizyme 1 (OAZ1), mRNA.	L-Ornithine(DB00129)						16	19	18					19																	2272779		2054	4059	6113	SO:0001589	frameshift_variant	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2272779delC		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"antizyme 1"	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.510delC	19.37:g.2272779delC	ENSP00000473381:p.Asp170fs		Somatic				OAZ1_uc002lvl.3_Non-coding_Transcript|SPPL2B_uc010dsw.1_Intron	p.D170fs	NM_004152	NP_004143	WXS	Illumina GAIIx	Phase_I	P54368	OAZ1_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	588	+		Hepatocellular(1079;0.137)	170					O43382|Q14989|Q92595|Q9UPL9	Frame_Shift_Del	DEL	ENST00000602676.2	37	c.510delC	CCDS58639.1																																																																																				0.632	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		2	4						2	4	---	---	---	---	-	2272779	C	-	2272779	7	5	144	1	0	1	0	1	0	0	0	0	10804	506	18	0	525	0	OAZ1	19	2272779	Frame_Shift_Del	DEL	C	TCGA-E3-A3E5-01A-11D-A20C-08		2272779	56856204	22	2521											
TMEM160	54958	broad.mit.edu	37	19	47549926	47549926	+	Missense_Mutation	SNP	G	G	A	rs200562809		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:47549926G>A	ENST00000253047.6	-	2	241	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	76						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		AGGCCATTGCGGAACCAGGAG	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		17034	0		0	False		,,,				2504	0					uc002pfz.3																			0				lung(1)	1						c.(226-228)Cgc>Tgc		Homo sapiens transmembrane protein 160 (TMEM160), mRNA.							87	79	81					19																	47549926		2203	4300	6503	SO:0001583	missense	54958					integral to membrane		g.chr19:47549926G>A	AK000519	CCDS12695.1	19q13.32	2008-02-05				ENSG00000130748			26042	protein-coding gene	gene with protein product						12477932	Standard	XM_005259027		Approved	FLJ20512	uc002pfz.3	Q9NX00		ENST00000253047.6:c.226C>T	19.37:g.47549926G>A	ENSP00000253047:p.Arg76Cys		Somatic					p.R76C	NM_017854	NP_060324	WXS	Illumina GAIIx	Phase_I	Q9NX00	TM160_HUMAN		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)	1	236	-		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)	76					Q9BU41	Missense_Mutation	SNP	ENST00000253047.6	37	c.226C>T	CCDS12695.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.02	2.412084	0.42817	.	.	ENSG00000130748	ENST00000253047	T	0.70749	-0.51	4.69	3.6	0.41247	.	0.066456	0.56097	D	0.000037	T	0.67739	0.2925	N	0.08118	0	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.73483	-0.3968	10	0.87932	D	0	-16.9596	11.761	0.51903	0.0:0.0:0.8127:0.1873	.	76	Q9NX00	TM160_HUMAN	C	76	ENSP00000253047:R76C	ENSP00000253047:R76C	R	-	1	0	TMEM160	52241766	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.396000	0.44468	2.449000	0.82847	0.305000	0.20034	CGC		0.612	TMEM160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466666.1	NM_017854		4	186	0	0	0	1	0	4	186					A	47549926	G	A	47549926	3	1	144	1	0	0	0	0	1	0	0	0	16072	1116	39	1	348	1	TMEM160	19	47549926	Missense_Mutation	SNP	G	TCGA-E3-A3E5-01A-11D-A20C-08	45277147	47549926	11579057	23	2522											
PTPRT	11122	broad.mit.edu	37	20	40739081	40739081	+	Missense_Mutation	SNP	C	C	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr20:40739081C>A	ENST00000373187.1	-	23	3145	c.3146G>T	c.(3145-3147)aGc>aTc	p.S1049I	PTPRT_ENST00000356100.2_Missense_Mutation_p.S1058I|PTPRT_ENST00000373201.1_Missense_Mutation_p.S1039I|PTPRT_ENST00000373193.3_Missense_Mutation_p.S1052I|PTPRT_ENST00000373190.1_Missense_Mutation_p.S1048I|PTPRT_ENST00000373198.4_Missense_Mutation_p.S1068I|PTPRT_ENST00000373184.1_Missense_Mutation_p.S1059I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1049	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCAGGCCAGCTGGTGAAGTG	0.622																																						uc010ggj.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3202-3204)aGc>aTc		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 1, mRNA.							61	71	68					20																	40739081		1967	4142	6109	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40739081C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3146G>T	20.37:g.40739081C>A	ENSP00000362283:p.Ser1049Ile		Somatic				PTPRT_uc002xkg.3_Missense_Mutation_p.S1049I|PTPRT_uc010ggi.3_Missense_Mutation_p.S252I	p.S1068I	NM_133170	NP_573400	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			23	3387	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1049			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3203G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988486	0.93106	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.8	4.8	0.61643	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.93723	0.7994	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.925	D	0.95087	0.8218	10	0.72032	D	0.01	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	1071;1049	O14522-1;O14522	.;PTPRT_HUMAN	I	1048;1049;1052;1058;1071;1059;1039	ENSP00000362286:S1048I;ENSP00000362283:S1049I;ENSP00000362289:S1052I;ENSP00000348408:S1058I;ENSP00000362294:S1071I;ENSP00000362280:S1059I;ENSP00000362297:S1039I	ENSP00000348408:S1058I	S	-	2	0	PTPRT	40172495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.036000	0.70948	2.376000	0.81061	0.655000	0.94253	AGC		0.622	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			3	67	0	0	0	1	0	3	67					A	40739081	C	A	40739081	3	1	144	1	0	0	0	0	1	0	0	0	12812	797	28	4	1215	4	PTPRT	20	40739081	Missense_Mutation	SNP	C	TCGA-E3-A3E5-01A-11D-A20C-08		40739081	22286439	24	2523											
DOK1	1796	broad.mit.edu	37	2	74784179	74784179	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:74784179G>A	ENST00000233668.5	+	5	2053	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	DOK1_ENST00000409429.1_Missense_Mutation_p.D323N|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|M1AP_ENST00000464686.1_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	462					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGGAGCTGGGACTGTGGGCT	0.592																																					Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.3																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1384-1386)Gac>Aac		Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.							47	51	50					2																	74784179		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74784179G>A	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"docking protein 1, 62kD (downstream of tyrosine kinase 1)"			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1384G>A	2.37:g.74784179G>A	ENSP00000233668:p.Asp462Asn		Somatic				DOK1_uc002smr.3_Missense_Mutation_p.D323N|DOK1_uc010ffo.3_Missense_Mutation_p.D323N|DOK1_uc002smt.3_Missense_Mutation_p.D248N|DOK1_uc002smu.3_Missense_Mutation_p.D248N|DOK1_uc010yrz.2_Missense_Mutation_p.D451N|DOK1_uc002smw.1_Missense_Mutation_p.D248N	p.D462N	NM_001381	NP_001184189	WXS	Illumina GAIIx	Phase_I	Q99704	DOK1_HUMAN			4	1754	+			462					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.1384G>A	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334634	0.24253	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.40225	1.04;1.14	5.25	3.43	0.39272	.	0.514806	0.21006	N	0.081772	T	0.28234	0.0697	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08659	-1.0711	10	0.87932	D	0	-11.2897	7.3255	0.26553	0.0894:0.1679:0.7426:0.0	.	451;462	B4DJN1;Q99704	.;DOK1_HUMAN	N	323;462	ENSP00000387016:D323N;ENSP00000233668:D462N	ENSP00000233668:D462N	D	+	1	0	DOK1	74637687	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	1.660000	0.37397	0.788000	0.33755	0.561000	0.74099	GAC		0.592	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		6	64	0	0	0	1	0	6	64					A	74784179	G	A	74784179	3	1	145	1	0	0	0	0	1	0	0	0	4696	1174	41	2	1402	2	DOK1	2	74784179	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		74784179	168415194	1	2524											
KDM3A	55818	broad.mit.edu	37	2	86705781	86705781	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:86705781A>G	ENST00000409556.1	+	16	2604	c.2239A>G	c.(2239-2241)Ata>Gta	p.I747V	KDM3A_ENST00000542128.1_Missense_Mutation_p.I695V|KDM3A_ENST00000312912.5_Missense_Mutation_p.I747V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I747V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	747					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAATGGGGAATAAAGGCAAA	0.388																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2239-2241)Ata>Gta		Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.							114	103	107					2																	86705781		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705781A>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2239A>G	2.37:g.86705781A>G	ENSP00000386660:p.Ile747Val		Somatic				KDM3A_uc010ytj.2_Missense_Mutation_p.I747V|KDM3A_uc010ytk.2_Missense_Mutation_p.I695V	p.I747V	NM_018433	NP_060903	WXS	Illumina GAIIx	Phase_I	Q9Y4C1	KDM3A_HUMAN			14	2566	+			747					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2239A>G	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895093	0.72639	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.65549	-0.15;-0.15;-0.15;-0.16	5.73	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.58669	1.825	0.40701	D	0.982488	D;D	0.67145	0.964;0.996	D;D	0.81914	0.94;0.995	T	0.75488	-0.3300	10	0.62326	D	0.03	.	11.4362	0.50070	0.8649:0.0:0.0:0.1351	.	695;747	F5H070;Q9Y4C1	.;KDM3A_HUMAN	V	747;747;747;747;695	ENSP00000386660:I747V;ENSP00000323659:I747V;ENSP00000386516:I747V;ENSP00000438324:I695V	ENSP00000323659:I747V	I	+	1	0	KDM3A	86559292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.983000	0.93477	0.974000	0.38366	0.533000	0.62120	ATA		0.388	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		11	80	0	0	0	1	0	11	80					G	86705781	A	G	86705781	3	3	145	1	0	0	0	0	1	0	0	0	8126	101	4	3	2293	3	KDM3A	2	86705781	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08	11921602	86705781	156493592	2	2525											
GPR45	11250	broad.mit.edu	37	2	105859029	105859029	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:105859029G>C	ENST00000258456.1	+	1	830	c.714G>C	c.(712-714)ctG>ctC	p.L238L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	238						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(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCCTGGACCTGCGGCAGCTCA	0.647																																						uc002tco.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(712-714)ctG>ctC		Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.							76	81	79					2																	105859029		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859029G>C	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.714G>C	2.37:g.105859029G>C			Somatic					p.L238L	NM_007227	NP_009158	WXS	Illumina GAIIx	Phase_I	Q9Y5Y3	GPR45_HUMAN			0	830	+			238					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.714G>C	CCDS2066.1																																																																																				0.647	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		3	80	0	0	0	1	0	3	80					C	105859029	G	C	105859029	2	2	145	1	0	0	0	0	0	0	0	1	6696	1306	46	4		4	GPR45	2	105859029	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	19153248	105859029	137340344	3	2526											
SP140L	93349	broad.mit.edu	37	2	231264857	231264857	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:231264857G>A	ENST00000415673.2	+	15	1299	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	SP140L_ENST00000444636.1_Missense_Mutation_p.E405K|SP140L_ENST00000396563.4_Missense_Mutation_p.E370K|SP140L_ENST00000243810.6_Missense_Mutation_p.E405K	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	405						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAACTTGGATGAGTGTGAGGT	0.512																																						uc010fxm.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1213-1215)Gag>Aag		Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.							182	184	183					2																	231264857		2047	4211	6258	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264857G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1213G>A	2.37:g.231264857G>A	ENSP00000397911:p.Glu405Lys		Somatic				SP140L_uc010fxo.1_Missense_Mutation_p.E177K	p.E405K	NM_138402	NP_612411	WXS	Illumina GAIIx	Phase_I	Q9H930	LY10L_HUMAN			14	1304	+			405					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1213G>A	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460334	0.26248	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	3.5	0.544	0.17185	.	.	.	.	.	T	0.81607	0.4858	L	0.54908	1.71	0.09310	N	1	B;B	0.27316	0.175;0.097	B;B	0.32289	0.084;0.143	T	0.65096	-0.6251	9	0.20046	T	0.44	.	6.0941	0.20010	0.3602:0.0:0.6398:0.0	.	370;405	Q9H930-2;Q9H930-4	.;.	K	405;405;405;370	ENSP00000395195:E405K;ENSP00000397911:E405K;ENSP00000243810:E405K;ENSP00000379811:E370K	ENSP00000243810:E405K	E	+	1	0	SP140L	230973101	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.426000	0.07008	-0.014000	0.14175	0.491000	0.48974	GAG		0.512	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		21	80	0	0	0	1	0	21	80					A	231264857	G	A	231264857	3	1	145	1	0	0	0	0	1	0	0	0	14963	1291	45	2	1271	2	SP140L	2	231264857	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	125405828	231264857	11934516	4	2527											
RGS12	6002	broad.mit.edu	37	4	3430427	3430427	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:3430427A>T	ENST00000344733.5	+	16	4458	c.3554A>T	c.(3553-3555)gAc>gTc	p.D1185V	RGS12_ENST00000336727.3_Missense_Mutation_p.D1185V|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000382788.3_Missense_Mutation_p.D1185V|RGS12_ENST00000338806.4_Missense_Mutation_p.D537V|RGS12_ENST00000538395.1_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1185					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)		ATTAATTTGGACGAAGCAGAG	0.358																																						uc003ggw.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.(3553-3555)gAc>gTc		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							44	49	47					4																	3430427		2202	4300	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430427A>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3554A>T	4.37:g.3430427A>T	ENSP00000339381:p.Asp1185Val		Somatic				RGS12_uc003ggv.3_Missense_Mutation_p.D1185V|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.3_Missense_Mutation_p.D537V|RGS12_uc011bvs.2_Intron|RGS12_uc003gha.3_Missense_Mutation_p.D527V|RGS12_uc010icv.3_Missense_Mutation_p.D384V	p.D1185V	NM_198229	NP_937872	WXS	Illumina GAIIx	Phase_I	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	4458	+			1185					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3554A>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048517	0.75846	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.38240	1.45;1.46;1.46;1.15	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.963;1.0;1.0	T	0.63097	-0.6713	10	0.66056	D	0.02	-46.5591	13.9468	0.64089	1.0:0.0:0.0:0.0	.	527;537;1185;1185	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	V	1185;1185;1185;537	ENSP00000339381:D1185V;ENSP00000338509:D1185V;ENSP00000372238:D1185V;ENSP00000342133:D537V	ENSP00000338509:D1185V	D	+	2	0	RGS12	3400225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.801000	0.75170	1.945000	0.56424	0.533000	0.62120	GAC		0.358	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		3	65	0	0	0	1	0	3	65					T	3430427	A	T	3430427	3	4	145	1	0	0	0	0	1	0	0	0	13295	275	10	5	3670	5	RGS12	4	3430427	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		3430427	187723849	5	2528											
C4orf40	401137	broad.mit.edu	37	4	71024450	71024450	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:71024450G>A	ENST00000344526.5	+	3	670	c.481G>A	c.(481-483)Gag>Aag	p.E161K	C4orf40_ENST00000502294.1_Missense_Mutation_p.E161K|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		161	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCTGCAGAGGCACCTGT	0.622																																						uc003hfa.4																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(481-483)Gag>Aag		Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.							28	29	29					4																	71024450		2203	4299	6502	SO:0001583	missense	401137					extracellular region		g.chr4:71024450G>A																												ENST00000344526.5:c.481G>A	4.37:g.71024450G>A	ENSP00000343172:p.Glu161Lys		Somatic				C4orf40_uc003hfb.4_Missense_Mutation_p.E161K	p.E161K	NM_214711	NP_999876	WXS	Illumina GAIIx	Phase_I	Q6MZM9	CD040_HUMAN			3	554	+			161			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.481G>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069681	0.20147	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.30448	1.53;1.53	3.58	-1.41	0.08941	.	.	.	.	.	T	0.13329	0.0323	N	0.14661	0.345	0.09310	N	1	B	0.25904	0.137	B	0.25506	0.061	T	0.34650	-0.9820	9	0.06494	T	0.89	.	7.7978	0.29158	0.1092:0.4249:0.4659:0.0	.	161	Q6MZM9	CD040_HUMAN	K	161	ENSP00000426249:E161K;ENSP00000343172:E161K	ENSP00000343172:E161K	E	+	1	0	C4orf40	71059039	0.140000	0.22579	0.001000	0.08648	0.010000	0.07245	1.592000	0.36676	-0.189000	0.10482	0.596000	0.82720	GAG		0.622	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			5	66	0	0	0	1	0	5	66					A	71024450	G	A	71024450	3	1	145	1	0	0	0	0	1	0	0	0	2269	943	33	2	491	2	C4orf40	4	71024450	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	67594023	71024450	120129826	6	2529											
C6orf142	90523	broad.mit.edu	37	6	53989598	53989598	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr6:53989598G>T	ENST00000274897.5	+	3	660	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	MLIP_ENST00000514921.1_Missense_Mutation_p.D183Y|MLIP_ENST00000370876.2_Missense_Mutation_p.D121Y|MLIP_ENST00000509997.1_Missense_Mutation_p.D131Y|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.D177Y|MLIP_ENST00000502396.1_Missense_Mutation_p.D194Y|MLIP_ENST00000370877.2_Missense_Mutation_p.D131Y	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	183						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.D183N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGGGGACTGATCTCAAGAC	0.542																																						uc011dxa.2																			1	Substitution - Missense(1)	p.D183N(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(580-582)Gat>Tat		Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.							69	61	64					6																	53989598		2203	4300	6503	SO:0001583	missense	90523					PML body|nuclear envelope	protein binding	g.chr6:53989598G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.547G>T	6.37:g.53989598G>T	ENSP00000274897:p.Asp183Tyr		Somatic				MLIP_uc003pcf.2_Missense_Mutation_p.D183Y|MLIP_uc003pcg.4_Missense_Mutation_p.D183Y|MLIP_uc003pch.4_Missense_Mutation_p.D121Y|MLIP_uc011dwz.1_Missense_Mutation_p.D142Y	p.D194Y	NM_138569	NP_612636	WXS	Illumina GAIIx	Phase_I	Q5VWP3	MLIP_HUMAN			2	613	+			183					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.580G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249107	0.39797	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.68	2.73	0.32206	.	0.357777	0.28940	N	0.013658	T	0.44767	0.1309	M	0.68952	2.095	0.09310	N	1	D;D;D;D;D	0.76494	0.995;0.995;0.999;0.999;0.993	P;D;D;D;P	0.73380	0.789;0.94;0.964;0.98;0.891	T	0.34850	-0.9812	9	.	.	.	-0.1376	5.1448	0.14979	0.1991:0.1659:0.635:0.0	.	194;194;121;183;183	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	Y	183;183;131;131;121;65;65;142;194;177;65;184	ENSP00000274897:D183Y;ENSP00000425142:D183Y;ENSP00000359914:D131Y;ENSP00000427584:D131Y;ENSP00000359913:D121Y;ENSP00000411917:D65Y;ENSP00000427057:D65Y;ENSP00000426830:D142Y;ENSP00000426290:D194Y;ENSP00000351019:D177Y;ENSP00000421444:D184Y	.	D	+	1	0	MLIP	54097557	0.124000	0.22315	0.007000	0.13788	0.556000	0.35491	1.664000	0.37439	0.242000	0.21303	0.650000	0.86243	GAT		0.542	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		5	66	0	0	0	1	0	5	66					T	53989598	G	T	53989598	3	4	145	1	0	0	0	0	1	0	0	0	2333	1290	45	4	557	4	C6orf142	6	53989598	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		53989598	117125469	7	2530											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	55	0	0	0	1	0	25	55					T	140453136	A	T	140453136	3	4	145	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		140453136	18685527	8	2531											
ENPP2	5168	broad.mit.edu	37	8	120575112	120575112	+	Missense_Mutation	SNP	G	G	T	rs61740048	byFrequency	TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr8:120575112G>T	ENST00000075322.6	-	24	2464	c.2406C>A	c.(2404-2406)aaC>aaA	p.N802K	ENPP2_ENST00000522826.1_Missense_Mutation_p.N827K|ENPP2_ENST00000259486.6_Missense_Mutation_p.N854K|ENPP2_ENST00000522167.1_Missense_Mutation_p.N437K|ENPP2_ENST00000427067.2_Missense_Mutation_p.N823K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	802					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N854N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCTCTCCTCGTTGTCAGGCC	0.478																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			1	Substitution - coding silent(1)	p.N854N(2)	kidney(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2560-2562)aaC>aaA		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							109	97	101					8																	120575112		2203	4300	6503	SO:0001583	missense	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575112G>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2406C>A	8.37:g.120575112G>T	ENSP00000075322:p.Asn802Lys		Somatic				ENPP2_uc011lic.2_Missense_Mutation_p.N340K|ENPP2_uc003yor.2_Missense_Mutation_p.N437K|ENPP2_uc010mdd.2_Missense_Mutation_p.N827K|ENPP2_uc003yot.2_Missense_Mutation_p.N802K	p.N854K	NM_006209	NP_006200	WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	2648	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		802					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2562C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470209	0.63625	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.8	-6.01	0.02199	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.84219	2.685	0.58432	D	0.999997	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;0.999;1.0;1.0;1.0	T	0.80344	-0.1422	10	0.87932	D	0	.	17.8494	0.88740	0.3637:0.0:0.6363:0.0	.	340;827;802;854;437	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	K	854;823;437;827;802	ENSP00000259486:N854K;ENSP00000403315:N823K;ENSP00000429476:N437K;ENSP00000428291:N827K;ENSP00000075322:N802K	ENSP00000075322:N802K	N	-	3	2	ENPP2	120644293	0.016000	0.18221	0.244000	0.24202	0.902000	0.53008	-0.636000	0.05465	-1.517000	0.01780	-0.312000	0.09012	AAC		0.478	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			8	74	0	0	0	1	0	8	74					T	120575112	G	T	120575112	3	4	145	1	0	0	0	0	1	0	0	0	5130	1136	40	4	193	4	ENPP2	8	120575112	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		120575112	25788910	9	2532											
VCL	7414	broad.mit.edu	37	10	75868775	75868775	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr10:75868775A>G	ENST00000211998.4	+	18	2700	c.2606A>G	c.(2605-2607)gAg>gGg	p.E869G	VCL_ENST00000372755.3_Missense_Mutation_p.E869G|VCL_ENST00000417648.2_Splice_Site	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	869	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)					CCTGAAGGTGAGGTCCCTCCA	0.512																																						uc001jwd.3																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(2605-2607)gAg>gGg		Homo sapiens vinculin (VCL), transcript variant 1, mRNA.							85	83	84					10																	75868775		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75868775A>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2606A>G	10.37:g.75868775A>G	ENSP00000211998:p.Glu869Gly		Somatic				VCL_uc009xrr.3_Missense_Mutation_p.E618G|VCL_uc010qky.1_Missense_Mutation_p.E776G|VCL_uc001jwe.3_Missense_Mutation_p.E869G|VCL_uc010qkz.2_Splice_Site_p.V131_splice	p.E869G	NM_014000	NP_054706	WXS	Illumina GAIIx	Phase_I	P18206	VINC_HUMAN			17	2700	+	Prostate(51;0.0112)		869			Linker (Pro-rich).|Pro-rich.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.2606A>G	CCDS7341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.420720|4.420720	0.83559|0.83559	.|.	.|.	ENSG00000035403|ENSG00000035403	ENST00000417648|ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	.|T;T;T	.|0.37584	.|1.19;1.19;1.19	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.112168	.|0.64402	.|D	.|0.000014	.|T	.|0.47303	.|0.1438	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.62365	.|0.989;0.99;0.991	.|D;P;D	.|0.76575	.|0.979;0.852;0.988	.|T	.|0.29397	.|-1.0013	.|10	.|0.23302	.|T	.|0.38	.|.	16.1339|16.1339	0.81465|0.81465	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|796;869;869	.|F5H7T3;P18206-2;P18206	.|.;.;VINC_HUMAN	.|G	-1|869;869;776;796;541	.|ENSP00000361841:E869G;ENSP00000211998:E869G;ENSP00000415489:E541G	.|ENSP00000211998:E869G	.|E	+|+	.|2	.|0	VCL|VCL	75538781|75538781	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	8.658000|8.658000	0.91110|0.91110	2.271000|2.271000	0.75665|0.75665	0.533000|0.533000	0.62120|0.62120	.|GAG		0.512	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		3	94	0	0	0	1	0	3	94					G	75868775	A	G	75868775	3	3	145	1	0	0	0	0	1	0	0	0	17136	304	11	3	2676	3	VCL	10	75868775	Missense_Mutation	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		75868775	59665972	10	2533											
TAF6L	10629	broad.mit.edu	37	11	62546414	62546414	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:62546414G>C	ENST00000294168.3	+	6	711	c.510G>C	c.(508-510)ggG>ggC	p.G170G	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	170					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTGCTAGGGGATGATCCGC	0.483																																						uc001nvc.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(508-510)ggG>ggC		Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.							159	132	141					11																	62546414		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62546414G>C	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.510G>C	11.37:g.62546414G>C			Somatic				TAF6L_uc009yof.3_Silent_p.G170G	p.G170G	NM_006473	NP_006464	WXS	Illumina GAIIx	Phase_I	Q9Y6J9	TAF6L_HUMAN			5	711	+			170					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.510G>C	CCDS8035.1																																																																																				0.483	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		3	124	0	0	0	1	0	3	124					C	62546414	G	C	62546414	2	2	145	1	0	0	0	0	0	0	0	1	15528	1219	43	4		4	TAF6L	11	62546414	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		62546414	72460102	11	2534											
KBTBD3	143879	broad.mit.edu	37	11	105924439	105924439	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:105924439T>C	ENST00000526793.1	-	3	1136	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q247R|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q326R	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	322										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CAGGTGTGATTGCGGCAGTAT	0.363																																						uc001pja.3																			0		p.P325S(2)|p.P325P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(976-978)cAa>cGa		Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.							75	75	75					11																	105924439		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924439T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.977A>G	11.37:g.105924439T>C	ENSP00000436262:p.Gln326Arg		Somatic				KBTBD3_uc001pjb.3_Missense_Mutation_p.Q326R|KBTBD3_uc009yxm.3_Missense_Mutation_p.Q247R	p.Q326R	NM_198439	NP_940841	WXS	Illumina GAIIx	Phase_I	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	3	1617	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	322					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.977A>G	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883379	0.17467	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66099	-0.19;-0.19;-0.19	5.97	4.85	0.62838	Kelch-type beta propeller (1);	0.370685	0.34178	N	0.004199	T	0.44008	0.1273	N	0.14661	0.345	0.24935	N	0.991894	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35025	-0.9805	10	0.44086	T	0.13	.	11.5151	0.50515	0.0:0.0694:0.0:0.9306	.	326;322	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	R	247;326;326	ENSP00000431910:Q247R;ENSP00000436262:Q326R;ENSP00000432163:Q326R	ENSP00000436262:Q326R	Q	-	2	0	KBTBD3	105429649	0.985000	0.35326	0.944000	0.38274	0.962000	0.63368	2.110000	0.41873	2.287000	0.76781	0.482000	0.46254	CAA		0.363	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		14	79	0	0	0	1	0	14	79					C	105924439	T	C	105924439	3	2	145	1	0	0	0	0	1	0	0	0	7994	1812	63	3	865	3	KBTBD3	11	105924439	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08	43378025	105924439	29082077	12	2535											
ADAMTS8	11095	broad.mit.edu	37	11	130286920	130286920	+	Silent	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:130286920G>A	ENST00000257359.6	-	3	1717	c.1011C>T	c.(1009-1011)atC>atT	p.I337I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAATGGTCCCGATGTCTGCCA	0.597																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1009-1011)atC>atT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.							93	104	100					11																	130286920		2096	4232	6328	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130286920G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1011C>T	11.37:g.130286920G>A			Somatic					p.I337I	NM_007037	NP_008968	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1369	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	337			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.1011C>T	CCDS41732.1																																																																																				0.597	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		4	120	0	0	0	1	0	4	120					A	130286920	G	A	130286920	2	1	145	1	0	0	0	0	0	0	0	1	272	1048	37	1		1	ADAMTS8	11	130286920	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	24362481	130286920	4719596	13	2536											
OVCH1	341350	broad.mit.edu	37	12	29607866	29607866	+	Splice_Site	SNP	C	C	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:29607866C>A	ENST00000318184.5	-	21	2437	c.2438G>T	c.(2437-2439)gGt>gTt	p.G813V	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	813						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)					TGAAGCAGGACCTGTATTTGG	0.378																																						uc001rix.1																			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.e21-1		Homo sapiens ovochymase 1 (OVCH1), mRNA.							102	95	97					12																	29607866		1854	4095	5949	SO:0001630	splice_region_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29607866C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2438-1G>T	12.37:g.29607866C>A			Somatic					p.G813_splice	NM_183378	NP_899234	WXS	Illumina GAIIx	Phase_I	Q7RTY7	OVCH1_HUMAN			21	2438	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		813						Splice_Site	SNP	ENST00000318184.5	37	c.2438_splice		.	.	.	.	.	.	.	.	.	.	C	16.77	3.214515	0.58452	.	.	ENSG00000187950	ENST00000318184	D	0.87256	-2.23	3.28	2.37	0.29283	.	.	.	.	.	D	0.86297	0.5899	N	0.19112	0.55	0.26551	N	0.973913	D	0.89917	1.0	D	0.72075	0.976	T	0.75772	-0.3200	9	0.54805	T	0.06	.	7.8839	0.29637	0.0:0.8688:0.0:0.1312	.	813	Q7RTY7	OVCH1_HUMAN	V	813	ENSP00000326708:G813V	ENSP00000326708:G813V	G	-	2	0	OVCH1	29499133	0.007000	0.16637	0.043000	0.18650	0.546000	0.35178	0.434000	0.21494	0.927000	0.37143	0.655000	0.94253	GGT		0.378	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Missense_Mutation	3	24	0	0	0	1	0	3	24					A	29607866	C	A	29607866	5	1	145	1	0	0	0	0	0	0	1	0	11323	521	18	4	998	4	OVCH1	12	29607866	Splice_Site	SNP	C	TCGA-E8-A242-01A-21D-A16O-08		29607866	104244029	14	2537											
PRDM4	11108	broad.mit.edu	37	12	108134795	108134795	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:108134795G>A	ENST00000228437.5	-	10	2311	c.1852C>T	c.(1852-1854)Cac>Tac	p.H618Y	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	618					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						TCACACTTGTGGGGCTTCATA	0.473																																						uc001tmp.3																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1852-1854)Cac>Tac		Homo sapiens PR domain containing 4 (PRDM4), mRNA.							149	145	146					12																	108134795		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.chr12:108134795G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1852C>T	12.37:g.108134795G>A	ENSP00000228437:p.His618Tyr		Somatic				PRDM4_uc001tmq.3_Non-coding_Transcript	p.H618Y	NM_012406	NP_036538	WXS	Illumina GAIIx	Phase_I	Q9UKN5	PRDM4_HUMAN			9	2289	-			618					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1852C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605971	0.46527	.	.	ENSG00000110851	ENST00000228437	T	0.24151	1.87	6.03	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	N	0.04805	-0.155	0.58432	D	0.999996	P	0.52577	0.954	P	0.52758	0.708	T	0.02053	-1.1222	10	0.02654	T	1	-1.3766	16.7665	0.85525	0.0:0.0:0.8706:0.1294	.	618	Q9UKN5	PRDM4_HUMAN	Y	618	ENSP00000228437:H618Y	ENSP00000228437:H618Y	H	-	1	0	PRDM4	106658925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.375000	0.79646	2.861000	0.98227	0.655000	0.94253	CAC		0.473	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		4	167	0	0	0	1	0	4	167					A	108134795	G	A	108134795	3	1	145	1	0	0	0	0	1	0	0	0	12459	1348	47	2	565	2	PRDM4	12	108134795	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	78526929	108134795	25717100	15	2538											
NALCN	259232	broad.mit.edu	37	13	101795522	101795522	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr13:101795522C>G	ENST00000251127.6	-	17	2108	c.2027G>C	c.(2026-2028)tGc>tCc	p.C676S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	676					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCAGGAGGCAACATGTGTC	0.468																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2026-2028)tGc>tCc		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							198	172	181					13																	101795522		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101795522C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2027G>C	13.37:g.101795522C>G	ENSP00000251127:p.Cys676Ser		Somatic				NALCN_uc001voy.3_Missense_Mutation_p.C391S	p.C676S	NM_052867	NP_443099	WXS	Illumina GAIIx	Phase_I	Q8IZF0	NALCN_HUMAN			16	2216	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		676					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2027G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496247	0.12762	.	.	ENSG00000102452	ENST00000251127	D	0.97186	-4.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	N	0.01576	-0.805	0.80722	D	1	B	0.14012	0.009	B	0.06405	0.002	D	0.86028	0.1511	10	0.06236	T	0.91	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	676	Q8IZF0	NALCN_HUMAN	S	676	ENSP00000251127:C676S	ENSP00000251127:C676S	C	-	2	0	NALCN	100593523	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.668000	0.68074	2.686000	0.91538	0.650000	0.86243	TGC		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	96	0	0	0	1	0	8	96					G	101795522	C	G	101795522	3	3	145	1	0	0	0	0	1	0	0	0	10148	710	25	4	3301	4	NALCN	13	101795522	Missense_Mutation	SNP	C	TCGA-E8-A242-01A-21D-A16O-08		101795522	13374356	16	2539											
HEATR5A	25938	broad.mit.edu	37	14	31765218	31765218	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr14:31765218G>A	ENST00000389961.3	-	33	5497	c.5498C>T	c.(5497-5499)aCa>aTa	p.T1833I	RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1758I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1546I|HEATR5A_ENST00000543095.2_Missense_Mutation_p.T1839I			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1833										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATAAACACTGTGATAGCAGT	0.348																																						uc001wrf.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5515-5517)aCa>aTa		Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.							135	131	132					14																	31765218		1899	4123	6022	SO:0001583	missense	25938						binding	g.chr14:31765218G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5498C>T	14.37:g.31765218G>A	ENSP00000374611:p.Thr1833Ile		Somatic				HEATR5A_uc010ami.3_Missense_Mutation_p.T1369I	p.T1839I	NM_015473	NP_056288	WXS	Illumina GAIIx	Phase_I	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	33	5701	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1833					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.5516C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.951783|3.951783	0.73787|0.73787	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.66099	.|-0.19;-0.14;-0.19;-0.19	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.76285	.|0.3966	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.62885	.|0.908	.|T	.|0.78578	.|-0.2150	.|10	.|0.87932	.|D	.|0	.|.	13.2751|13.2751	0.60182|0.60182	0.0722:0.0:0.9278:0.0|0.0722:0.0:0.9278:0.0	.|.	.|1758	.|Q86XA9-2	.|.	X|I	1392|1833;1758;1546;1839	.|ENSP00000374611:T1833I;ENSP00000405407:T1758I;ENSP00000408681:T1546I;ENSP00000437968:T1839I	.|ENSP00000374611:T1833I	Q|T	-|-	1|2	0|0	HEATR5A|HEATR5A	30834969|30834969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.678000|0.678000	0.39670|0.39670	7.198000|7.198000	0.77823|0.77823	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.348	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		16	88	0	0	0	1	0	16	88					A	31765218	G	A	31765218	3	1	145	1	0	0	0	0	1	0	0	0	7031	1377	48	2	636	2	HEATR5A	14	31765218	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		31765218	75584322	17	2540											
DNAH9	1770	broad.mit.edu	37	17	11726231	11726231	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:11726231G>T	ENST00000262442.4	+	48	9194	c.9126G>T	c.(9124-9126)aaG>aaT	p.K3042N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K3042N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3042					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAACTCCCAAGTCCTTTCTGG	0.478																																						uc002gne.3																			0		p.P3041H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9124-9126)aaG>aaT		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							123	110	115					17																	11726231		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726231G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9126G>T	17.37:g.11726231G>T	ENSP00000262442:p.Lys3042Asn		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.K2336N	p.K3042N	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	47	9194	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3042					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9126G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284494	0.59867	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56103	0.48;0.48	4.05	-5.32	0.02722	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.82001	0.4942	H	0.99325	4.515	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86884	0.2044	10	0.87932	D	0	.	19.3718	0.94490	0.2157:0.0:0.7843:0.0	.	3042	Q9NYC9	DYH9_HUMAN	N	3042;3042;1624	ENSP00000262442:K3042N;ENSP00000414874:K3042N	ENSP00000262442:K3042N	K	+	3	2	DNAH9	11666956	0.992000	0.36948	0.929000	0.37066	0.985000	0.73830	0.140000	0.16056	-1.245000	0.02513	-0.484000	0.04775	AAG		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	91	0	0	0	1	0	5	91					T	11726231	G	T	11726231	3	4	145	1	0	0	0	0	1	0	0	0	4608	1020	36	4	9316	4	DNAH9	17	11726231	Missense_Mutation	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		11726231	69468979	18	2541											
DDX5	1655	broad.mit.edu	37	17	62496218	62496218	+	Silent	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:62496218G>A	ENST00000225792.5	-	13	2069	c.1668C>T	c.(1666-1668)acC>acT	p.T556T	DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Silent_p.T556T|MIR3064_ENST00000581130.1_RNA|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Silent_p.T477T	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	556	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCTAAAACTGGTCTGTATAC	0.403			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc010deh.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1666-1668)acC>acT		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.							133	123	126					17																	62496218		2203	4300	6503	SO:0001819	synonymous_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity	g.chr17:62496218G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1668C>T	17.37:g.62496218G>A			Somatic				DDX5_uc002jek.2_Silent_p.T556T|DDX5_uc002jej.2_Silent_p.T451T|DDX5_uc010wqa.1_Silent_p.T477T	p.T556T	NM_004396	NP_004387	WXS	Illumina GAIIx	Phase_I	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		12	1711	-	Breast(5;2.15e-14)		556					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Silent	SNP	ENST00000225792.5	37	c.1668C>T	CCDS11659.1																																																																																				0.403	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		4	94	0	0	0	1	0	4	94					A	62496218	G	A	62496218	2	1	145	1	0	0	0	0	0	0	0	1	4367	1335	47	2		2	DDX5	17	62496218	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	50769987	62496218	18698992	19	2542											
ALPK2	115701	broad.mit.edu	37	18	56149135	56149135	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr18:56149135T>C	ENST00000361673.3	-	13	6646	c.6433A>G	c.(6433-6435)Att>Gtt	p.I2145V		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2145						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTCCCAATGCTCGGCTGC	0.433																																						uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(6433-6435)Att>Gtt		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							173	158	163					18																	56149135		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56149135T>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6433A>G	18.37:g.56149135T>C	ENSP00000354991:p.Ile2145Val		Somatic					p.I2145V	NM_052947	NP_443179	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			12	6647	-			2145					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.6433A>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	1.274	-0.612132	0.03690	.	.	ENSG00000198796	ENST00000361673	T	0.42131	0.98	5.92	-8.0	0.01126	.	3.036110	0.00853	N	0.001859	T	0.16385	0.0394	N	0.04880	-0.145	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.13124	-1.0521	10	0.12766	T	0.61	0.192	4.4479	0.11606	0.0751:0.3369:0.314:0.274	.	2145	Q86TB3	ALPK2_HUMAN	V	2145	ENSP00000354991:I2145V	ENSP00000354991:I2145V	I	-	1	0	ALPK2	54300115	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.389000	0.01058	-1.384000	0.02103	-0.466000	0.05196	ATT		0.433	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	95	0	0	0	1	0	5	95					C	56149135	T	C	56149135	3	2	145	1	0	0	0	0	1	0	0	0	545	1464	51	3	83	3	ALPK2	18	56149135	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08		56149135	21928113	20	2543											
EPS15L1	58513	broad.mit.edu	37	19	16496012	16496012	+	Silent	SNP	T	T	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:16496012T>A	ENST00000248070.6	-	21	2314	c.2175A>T	c.(2173-2175)ggA>ggT	p.G725G	EPS15L1_ENST00000594975.1_Silent_p.G727G|EPS15L1_ENST00000535753.2_Silent_p.G725G|EPS15L1_ENST00000455140.2_Silent_p.G725G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	725	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GATCTAAGGTTCCAAAGGGAT	0.542																																						uc002ndx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(2173-2175)ggA>ggT		Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.							100	103	102					19																	16496012		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16496012T>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2175A>T	19.37:g.16496012T>A			Somatic				EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.G615G|EPS15L1_uc002ndz.1_Silent_p.G725G|EPS15L1_uc010xpf.1_Silent_p.G628G|EPS15L1_uc002nea.1_Silent_p.G725G|EPS15L1_uc010eah.1_Silent_p.G727G	p.G725G	NM_021235	NP_067058	WXS	Illumina GAIIx	Phase_I	Q9UBC2	EP15R_HUMAN			20	2181	-			725			15 X 3 AA repeats of D-P-F.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.2175A>T	CCDS32944.1																																																																																				0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		5	129	0	0	0	1	0	5	129					A	16496012	T	A	16496012	2	1	145	1	0	0	0	0	0	0	0	1	5193	1770	62	5		5	EPS15L1	19	16496012	Silent	SNP	T	TCGA-E8-A242-01A-21D-A16O-08		16496012	42632971	21	2544											
ZNF234	10780	broad.mit.edu	37	19	44662001	44662001	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:44662001T>C	ENST00000426739.2	+	6	2090	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	ZNF234_ENST00000592437.1_Missense_Mutation_p.L611P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	611					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)				GCCTCAAGTCTCCAACTTCAT	0.463																																						uc002oym.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1831-1833)cTc>cCc		Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.							137	146	143					19																	44662001		2200	4296	6496	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44662001T>C	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1832T>C	19.37:g.44662001T>C	ENSP00000400878:p.Leu611Pro		Somatic				ZNF234_uc002oyl.4_Missense_Mutation_p.L611P	p.L611P	NM_006630	NP_006621	WXS	Illumina GAIIx	Phase_I	Q14588	ZN234_HUMAN			5	2139	+		Prostate(69;0.0435)	611					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1832T>C	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914720	0.52546	.	.	ENSG00000167380	ENST00000426739	T	0.53857	0.6	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80534	0.4641	H	0.95950	3.745	0.23906	N	0.9965	D	0.89917	1.0	D	0.97110	1.0	T	0.74019	-0.3799	9	0.87932	D	0	.	12.8951	0.58095	0.0:0.0:0.0:1.0	.	611	Q14588	ZN234_HUMAN	P	611	ENSP00000400878:L611P	ENSP00000400878:L611P	L	+	2	0	ZNF226	49353841	0.774000	0.28592	0.028000	0.17463	0.946000	0.59487	4.484000	0.60271	1.934000	0.56057	0.477000	0.44152	CTC		0.463	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	124	0	0	0	1	0	3	124					C	44662001	T	C	44662001	3	2	145	1	0	0	0	0	1	0	0	0	17784	1551	54	3	1846	3	ZNF234	19	44662001	Missense_Mutation	SNP	T	TCGA-E8-A242-01A-21D-A16O-08	28165989	44662001	14466982	22	2545											
KIAA0406	9675	broad.mit.edu	37	20	36625191	36625191	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr20:36625191G>C	ENST00000373448.2	-	7	3196	c.2958C>G	c.(2956-2958)gtC>gtG	p.V986V	TTI1_ENST00000449821.1_Silent_p.V986V|TTI1_ENST00000373447.3_Silent_p.V986V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	986					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGCCCTGTAAGACAGCCAGCT	0.602																																						uc002xhl.3																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2956-2958)gtC>gtG		Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.							102	105	104					20																	36625191		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36625191G>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2958C>G	20.37:g.36625191G>C			Somatic				TTI1_uc002xhm.3_Silent_p.V986V	p.V986V	NM_014657	NP_055472	WXS	Illumina GAIIx	Phase_I	O43156	TTI1_HUMAN			6	3167	-			986					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.2958C>G	CCDS13300.1																																																																																				0.602	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		38	131	0	0	0	1	0	38	131					C	36625191	G	C	36625191	2	2	145	1	0	0	0	0	0	0	0	1	8173	929	33	4		4	KIAA0406	20	36625191	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08		36625191	26400329	23	2546											
SPANXN5	494197	broad.mit.edu	37	X	52825587	52825587	+	Silent	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:52825587A>G	ENST00000375511.3	-	2	912	c.160T>C	c.(160-162)Ttg>Ctg	p.L54L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	54										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTGTAGCACAACACTAATACT	0.418																																						uc004drc.1																			0				large_intestine(1)|lung(5)|skin(2)	8						c.(160-162)Ttg>Ctg		Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.							244	200	215					X																	52825587		2203	4300	6503	SO:0001819	synonymous_variant	494197							g.chrX:52825587A>G		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 10"	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.160T>C	X.37:g.52825587A>G			Somatic					p.L54L	NM_001009616	NP_001009616	WXS	Illumina GAIIx	Phase_I	Q5MJ07	SPXN5_HUMAN			1	160	-	Ovarian(276;0.236)		54						Silent	SNP	ENST00000375511.3	37	c.160T>C	CCDS35295.1																																																																																				0.418	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		4	150	0	0	0	1	0	4	150					G	52825587	A	G	52825587	2	3	145	1	0	0	0	0	0	0	0	1	14993	40	2	3		3	SPANXN5	23	52825587	Silent	SNP	A	TCGA-E8-A242-01A-21D-A16O-08		52825587	102444973	24	2547											
HMGB3	3149	broad.mit.edu	37	X	150155679	150155679	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:150155679G>C	ENST00000325307.7	+	4	465	c.369G>C	c.(367-369)gtG>gtC	p.V123V	HMGB3_ENST00000448905.2_Silent_p.V123V	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	123					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAGACGTGGCAAAAAAGC	0.428																																						uc004fep.3																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(367-369)gtG>gtC		Homo sapiens high mobility group box 3 (HMGB3), mRNA.							42	42	42					X																	150155679		2202	4297	6499	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150155679G>C	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.369G>C	X.37:g.150155679G>C			Somatic				HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.V123V	p.V123V	NM_005342	NP_005333	WXS	Illumina GAIIx	Phase_I	O15347	HMGB3_HUMAN			3	461	+	Acute lymphoblastic leukemia(192;6.56e-05)		123					O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.369G>C	CCDS35428.1																																																																																				0.428	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	54	0	0	0	1	0	4	54					C	150155679	G	C	150155679	2	2	145	1	0	0	0	0	0	0	0	1	7227	1335	47	4		4	HMGB3	23	150155679	Silent	SNP	G	TCGA-E8-A242-01A-21D-A16O-08	97330092	150155679	5114881	25	2548											
FBXO42	54455	broad.mit.edu	37	1	16577866	16577866	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:16577866G>C	ENST00000375592.3	-	10	1669	c.1453C>G	c.(1453-1455)Cga>Gga	p.R485G		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATCCTCGTCGGGGGGCCAAA	0.483																																						uc001ayg.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1453-1455)Cga>Gga		Homo sapiens F-box protein 42 (FBXO42), mRNA.							54	58	56					1																	16577866		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577866G>C	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1453C>G	1.37:g.16577866G>C	ENSP00000364742:p.Arg485Gly		Somatic				FBXO42_uc001ayf.3_Missense_Mutation_p.R392G	p.R485G	NM_018994	NP_061867	WXS	Illumina GAIIx	Phase_I	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	9	1669	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	485					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1453C>G	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503513	0.26949	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.56611	3.6;0.45;0.45	5.51	5.51	0.81932	.	0.226096	0.38326	N	0.001739	T	0.32941	0.0846	N	0.08118	0	0.52099	D	0.999945	B	0.09022	0.002	B	0.04013	0.001	T	0.12243	-1.0555	10	0.22109	T	0.4	-9.7159	15.2424	0.73480	0.0:0.0:0.8593:0.1407	.	485	Q6P3S6	FBX42_HUMAN	G	485;203;203	ENSP00000364742:R485G;ENSP00000415663:R203G;ENSP00000412416:R203G	ENSP00000364742:R485G	R	-	1	2	FBXO42	16450453	0.981000	0.34729	0.516000	0.27786	0.877000	0.50540	0.614000	0.24314	2.763000	0.94921	0.650000	0.86243	CGA		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			4	71	0	0	0	1	0	4	71					C	16577866	G	C	16577866	3	2	146	1	0	0	0	0	1	0	0	0	5751	1124	39	4	704	4	FBXO42	1	16577866	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		16577866	232672755	1	2549											
RTCD1	8634	broad.mit.edu	37	1	100752669	100752669	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:100752669G>C	ENST00000370128.4	+	10	1078	c.909G>C	c.(907-909)atG>atC	p.M303I	RTCA_ENST00000260563.4_Missense_Mutation_p.M316I	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	303					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)										TTGTTTTCATGGCATTAGCCA	0.338																																						uc001dtd.3																			0											c.(946-948)atG>atC		Homo sapiens RNA terminal phosphate cyclase domain 1 (RTCD1), transcript variant 1, mRNA.							82	80	81					1																	100752669		2203	4300	6503	SO:0001583	missense	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|RNA binding|RNA-3'-phosphate cyclase activity|protein binding	g.chr1:100752669G>C	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"RTC domain containing 1", "RNA terminal phosphate cyclase domain 1"	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.909G>C	1.37:g.100752669G>C	ENSP00000359146:p.Met303Ile		Somatic				RTCA_uc001dtc.3_Missense_Mutation_p.M303I	p.M316I	NM_001130841	NP_001124313	WXS	Illumina GAIIx	Phase_I	O00442	RTC1_HUMAN			10	1166	+			303					Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.948G>C	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592894	0.86953	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.77	5.77	0.91146	-terminal phosphate cyclase domain (2);RNA 3&apos (4);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77557	0.966;0.99	T	0.76222	-0.3038	9	0.52906	T	0.07	-27.851	18.1351	0.89616	0.0:0.0:1.0:0.0	.	316;303	O00442-2;O00442	.;RTC1_HUMAN	I	303;316	.	ENSP00000260563:M316I	M	+	3	0	RTCD1	100525257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.319000	0.79040	2.885000	0.99019	0.655000	0.94253	ATG		0.338	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			3	80	0	0	0	1	0	3	80					C	100752669	G	C	100752669	3	2	146	1	0	0	0	0	1	0	0	0	13718	1348	47	4	990	4	RTCD1	1	100752669	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	84174803	100752669	148497952	2	2550											
DENND2D	79961	broad.mit.edu	37	1	111741363	111741363	+	Splice_Site	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:111741363C>G	ENST00000357640.4	-	3	474	c.245G>C	c.(244-246)cGg>cCg	p.R82P	CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000369752.5_Splice_Site_p.R79P|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	82	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CAGGTTCTCCCGCTATAAGGC	0.552																																						uc001eak.1																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.e3-1		Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.							50	49	50					1																	111741363		2203	4300	6503	SO:0001630	splice_region_variant	79961							g.chr1:111741363C>G		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"DENN/MADD domain containing"	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.244-1G>C	1.37:g.111741363C>G			Somatic				DENND2D_uc001eal.1_Splice_Site_p.R79_splice	p.R82_splice	NM_024901	NP_079177	WXS	Illumina GAIIx	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	3	444	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	82			UDENN.		Q5T5V6|Q9BSU0	Splice_Site	SNP	ENST00000357640.4	37	c.244_splice	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989841	0.35131	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.46819	0.86;0.86	5.93	5.93	0.95920	uDENN (3);	0.125962	0.51477	D	0.000086	T	0.51109	0.1655	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.69824	0.943;0.966	T	0.47045	-0.9147	10	0.41790	T	0.15	-17.2731	12.7496	0.57300	0.1638:0.8362:0.0:0.0	.	79;82	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	P	82;79	ENSP00000350266:R82P;ENSP00000358767:R79P	ENSP00000350266:R82P	R	-	2	0	DENND2D	111542886	0.967000	0.33354	0.993000	0.49108	0.638000	0.38207	3.153000	0.50685	2.826000	0.97356	0.655000	0.94253	CGG		0.552	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	Missense_Mutation	3	38	0	0	0	1	0	3	38					G	111741363	C	G	111741363	5	3	146	1	0	0	0	0	0	0	1	0	4431	666	23	4	1210	4	DENND2D	1	111741363	Splice_Site	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	10988694	111741363	137509258	3	2551											
C1orf110	339512	broad.mit.edu	37	1	162824952	162824952	+	Missense_Mutation	SNP	G	G	C	rs150783672		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:162824952G>C	ENST00000367910.1	-	4	632	c.512C>G	c.(511-513)cCc>cGc	p.P171R	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Missense_Mutation_p.P170R|C1orf110_ENST00000367911.2_Missense_Mutation_p.P166R	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	171										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCCCTTGCTGGGGTCTACGTC	0.468																																						uc001gck.2																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(511-513)cCc>cGc		Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.							275	262	266					1																	162824952		1935	4141	6076	SO:0001583	missense	339512							g.chr1:162824952G>C	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.512C>G	1.37:g.162824952G>C	ENSP00000356886:p.Pro171Arg		Somatic				C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.P170R	p.P171R	NM_178550	NP_848645	WXS	Illumina GAIIx	Phase_I	Q86UF4	CA110_HUMAN			3	687	-			171					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.512C>G	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476208	0.12521	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	1.26	0.21427	.	0.713158	0.12734	N	0.443640	T	0.12944	0.0314	N	0.14661	0.345	0.21740	N	0.999568	B;B	0.21753	0.06;0.06	B;B	0.26517	0.07;0.07	T	0.11179	-1.0598	8	0.56958	D	0.05	0.04	6.55	0.22427	0.3143:0.0:0.6857:0.0	.	170;171	Q86UF4-2;Q86UF4	.;CA110_HUMAN	R	170;166;171	.	ENSP00000356886:P171R	P	-	2	0	C1orf110	161091576	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	0.853000	0.27777	0.151000	0.19162	-0.136000	0.14681	CCC		0.468	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		4	220	0	0	0	1	0	4	220					C	162824952	G	C	162824952	3	2	146	1	0	0	0	0	1	0	0	0	1983	1232	43	4	400	4	C1orf110	1	162824952	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	51083589	162824952	86425669	4	2552											
NUP133	55746	broad.mit.edu	37	1	229577762	229577763	+	Missense_Mutation	DNP	CG	CG	AT	rs374098845		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:229577762_229577763CG>AT	ENST00000261396.3	-	26	3450_3451	c.3359_3360CG>AT	c.(3358-3360)cCG>cAT	p.P1120H	NUP133_ENST00000537506.1_Missense_Mutation_p.P1104H|RP5-1068B5.3_ENST00000434311.1_lincRNA	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1120					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTTCACCTCCGGTAAGTACTC	0.351																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3358-3360)ccg>cAT		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.																																				SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	g.chr1:229577762_229577763CG>AT		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3359_3360delinsAT	1.37:g.229577762_229577763delinsAT	ENSP00000261396:p.Pro1120His		Somatic					p.P1120H	NM_018230	NP_060700	WXS	Illumina GAIIx	Phase_I	Q8WUM0	NU133_HUMAN			25	3451_3452	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1120					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	DNP	ENST00000261396.3	37	c.3359_3360CG>AT	CCDS1579.1																																																																																				0.351	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		6	191	0	0	0	1	0	6	191					AT	229577763	CG	AT	229577762	3	1	146	1	0	0	0	0	1	0	0	0	10754	639	23	4	114	4	NUP133	1	229577762	Missense_Mutation	DNP	CG	TCGA-E8-A2EA-01A-11D-A17V-08	66752810	229577762	19672859	5	2553											
GALNT2	2590	broad.mit.edu	37	1	230203102	230203102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:230203102delG	ENST00000366672.4	+	1	147	c.75delG	c.(73-75)tcgfs	p.S25fs	GALNT2_ENST00000541865.1_5'UTR|GALNT2_ENST00000543760.1_Intron	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	25					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)				ACATGTACTCGGGGGGCGGCT	0.771																																						uc010pwa.1																			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.(73-75)tcgfs		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.				2,3416		0,2,1707	5	5	5			3.7	1.0	1		5	12,6732		3,6,3363	no	frameshift	GALNT2	NM_004481.3		3,8,5070	A1A1,A1R,RR		0.1779,0.0585,0.1378			230203102	14,10148	1890	3735	5625	SO:0001589	frameshift_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230203102delG	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.75delG	1.37:g.230203102delG	ENSP00000355632:p.Ser25fs		Somatic				GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Non-coding_Transcript	p.S25fs	NM_004481	NP_004472	WXS	Illumina GAIIx	Phase_I	Q10471	GALT2_HUMAN			0	147	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	25					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Frame_Shift_Del	DEL	ENST00000366672.4	37	c.75delG	CCDS1582.1																																																																																				0.771	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		2	4						2	4	---	---	---	---	-	230203102	G	-	230203102	7	5	146	1	0	1	0	1	0	0	0	0	6213	1103	39	0	77	0	GALNT2	1	230203102	Frame_Shift_Del	DEL	G	TCGA-E8-A2EA-01A-11D-A17V-08	625340	230203102	19047519	6	2554											
MARCH7	64844	broad.mit.edu	37	2	160605230	160605231	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr2:160605230_160605231GG>TT	ENST00000259050.4	+	5	1551_1552	c.1429_1430GG>TT	c.(1429-1431)GGg>TTg	p.G477L	MARCH7_ENST00000409591.1_Missense_Mutation_p.G439L|MARCH7_ENST00000409175.1_Missense_Mutation_p.G477L|MARCH7_ENST00000539065.1_Missense_Mutation_p.G421L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	477					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGGAATATCAGGGATTCTTCCT	0.47																																						uc002uax.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1429-1431)ggg>TTg		Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.																																				SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160605230_160605231GG>TT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	Exception_encountered	2.37:g.160605230_160605231delinsTT	ENSP00000259050:p.Gly477Leu		Somatic				MARCH7_uc010foq.3_Missense_Mutation_p.G477L|MARCH7_uc010zcn.2_Missense_Mutation_p.G421L|MARCH7_uc010for.3_Missense_Mutation_p.G439L|MARCH7_uc002uay.3_Non-coding_Transcript	p.G477L	NM_022826	NP_073737	WXS	Illumina GAIIx	Phase_I	Q9H992	MARH7_HUMAN			4	1551_1552	+			477					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	DNP	ENST00000259050.4	37	c.1429_1430GG>TT	CCDS2210.1																																																																																				0.47	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		11	282	0	0	0	1	0	11	282					TT	160605231	GG	TT	160605230	3	4	146	1	0	0	0	0	1	0	0	0	9306	1000	35	4	1443	4	MARCH7	2	160605230	Missense_Mutation	DNP	GG	TCGA-E8-A2EA-01A-11D-A17V-08		160605230	82594143	7	2555											
TBC1D1	23216	broad.mit.edu	37	4	38016200	38016200	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:38016200C>G	ENST00000261439.4	+	3	843	c.488C>G	c.(487-489)tCc>tGc	p.S163C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S163C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	163					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CACTGCCCGTCCGAGTTCGAC	0.622																																						uc003gtb.3																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(487-489)tCc>tGc		Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.							99	97	98					4																	38016200		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38016200C>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.488C>G	4.37:g.38016200C>G	ENSP00000261439:p.Ser163Cys		Somatic				TBC1D1_uc011byd.2_Missense_Mutation_p.S163C|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S34C	p.S163C	NM_015173	NP_055988	WXS	Illumina GAIIx	Phase_I	Q86TI0	TBCD1_HUMAN			2	846	+			163					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.488C>G	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649349	0.29336	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.14516	2.5;2.5;2.5	5.46	5.46	0.80206	Phosphotyrosine interaction domain (1);	0.000000	0.47455	D	0.000238	T	0.09598	0.0236	N	0.12182	0.205	0.30414	N	0.778802	B;B;B	0.28439	0.212;0.097;0.212	B;B;B	0.28232	0.087;0.017;0.087	T	0.07908	-1.0748	10	0.49607	T	0.09	-13.9688	14.8578	0.70355	0.0:0.8566:0.1434:0.0	.	163;163;163	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	C	163;163;34	ENSP00000423651:S163C;ENSP00000261439:S163C;ENSP00000396877:S34C	ENSP00000261439:S163C	S	+	2	0	TBC1D1	37692595	0.977000	0.34250	0.122000	0.21767	0.013000	0.08279	4.001000	0.57046	2.565000	0.86533	0.561000	0.74099	TCC		0.622	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		28	120	0	0	0	1	0	28	120					G	38016200	C	G	38016200	3	3	146	1	0	0	0	0	1	0	0	0	15594	855	30	4	494	4	TBC1D1	4	38016200	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		38016200	153138076	8	2556											
PDS5A	23244	broad.mit.edu	37	4	39910084	39910084	+	Silent	SNP	G	G	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:39910084G>T	ENST00000303538.8	-	11	1703	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	PDS5A_ENST00000503396.1_Silent_p.A388A	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGTCCCTCTTGGCAGCTGTTA	0.358																																						uc003guv.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1162-1164)gcC>gcA		Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.							167	164	165					4																	39910084		1847	4090	5937	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39910084G>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1164C>A	4.37:g.39910084G>T			Somatic				PDS5A_uc003guw.4_Silent_p.A388A	p.A388A	NM_001100399	NP_001093869	WXS	Illumina GAIIx	Phase_I	Q29RF7	PDS5A_HUMAN			10	1704	-			388						Silent	SNP	ENST00000303538.8	37	c.1164C>A	CCDS47045.1																																																																																				0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		96	208	0	0	0	1	0	96	208					T	39910084	G	T	39910084	2	4	146	1	0	0	0	0	0	0	0	1	11691	1335	47	4		4	PDS5A	4	39910084	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	1893884	39910084	151244192	9	2557											
MUC17	140453	broad.mit.edu	37	7	100677148	100677148	+	Silent	SNP	G	G	C	rs200836006		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:100677148G>C	ENST00000306151.4	+	3	2515	c.2451G>C	c.(2449-2451)ccG>ccC	p.P817P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	817	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)					GCATCACACCGGTGACCAGTC	0.488																																						uc003uxp.1																			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.(2449-2451)ccG>ccC		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							282	287	285					7																	100677148		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677148G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2451G>C	7.37:g.100677148G>C			Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.P817P	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	2504	+	Lung NSC(181;0.136)|all_lung(186;0.182)		817			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2451G>C	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	509	0	0	0	1	0	6	509					C	100677148	G	C	100677148	2	2	146	1	0	0	0	0	0	0	0	1	9974	1103	39	4		4	MUC17	7	100677148	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		100677148	58461515	10	2558											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	30	0	0	0	1	0	13	30					T	140453136	A	T	140453136	3	4	146	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A2EA-01A-11D-A17V-08	39775988	140453136	18685527	11	2559											
KCNU1	157855	broad.mit.edu	37	8	36698048	36698048	+	Missense_Mutation	SNP	G	G	A	rs373537074		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:36698048G>A	ENST00000399881.3	+	15	1623	c.1586G>A	c.(1585-1587)cGt>cAt	p.R529H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	529					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)		CTGACCCAACGTCTCTCTGAT	0.403																																						uc010lvw.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.(1585-1587)cGt>cAt		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.		G	HIS/ARG	0,3800		0,0,1900	105	97	99		1586	2.8	1.0	8		99	1,8223		0,1,4111	no	missense	KCNU1	NM_001031836.2	29	0,1,6011	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	529/1150	36698048	1,12023	1900	4112	6012	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698048G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1586G>A	8.37:g.36698048G>A	ENSP00000382770:p.Arg529His		Somatic				KCNU1_uc003xjw.2_Non-coding_Transcript	p.R529H	NM_001031836	NP_001027006	WXS	Illumina GAIIx	Phase_I	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	14	1673	+			529						Missense_Mutation	SNP	ENST00000399881.3	37	c.1586G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	3.946	-0.013324	0.07727	0.0	1.22E-4	ENSG00000215262	ENST00000399881	T	0.44083	0.93	5.84	2.82	0.32997	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.38272	U	0.001757	T	0.29491	0.0735	L	0.48362	1.52	0.09310	N	0.999999	B	0.34255	0.445	B	0.28465	0.09	T	0.16070	-1.0415	10	0.44086	T	0.13	-3.7911	6.5249	0.22295	0.1677:0.0:0.6768:0.1555	.	529	A8MYU2	KCNU1_HUMAN	H	529	ENSP00000382770:R529H	ENSP00000382770:R529H	R	+	2	0	KCNU1	36817206	0.004000	0.15560	0.980000	0.43619	0.022000	0.10575	0.337000	0.19841	0.839000	0.34971	-0.727000	0.03589	CGT		0.403	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		8	15	0	0	0	1	0	8	15					A	36698048	G	A	36698048	3	1	146	1	0	0	0	0	1	0	0	0	8093	1145	40	1	1644	1	KCNU1	8	36698048	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		36698048	109665974	12	2560											
FAM83A	84985	broad.mit.edu	37	8	124219784	124219784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:124219784delG	ENST00000518448.1	+	5	3175	c.1161delG	c.(1159-1161)ccgfs	p.P387fs	FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Frame_Shift_Del_p.P387fs			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	387	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCTCTCCCCGCGGCCCCACG	0.766																																						uc003ypv.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1159-1161)ccgfs		Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.							3	4	4					8																	124219784		1532	3317	4849	SO:0001589	frameshift_variant	84985							g.chr8:124219784delG	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1161delG	8.37:g.124219784delG	ENSP00000428876:p.Pro387fs		Somatic				FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Frame_Shift_Del_p.P387fs|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	p.P387fs	NM_032899	NP_116288	WXS	Illumina GAIIx	Phase_I	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	3175	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		387			Pro-rich.		Q71HL2|Q8N7I1|Q96I47	Frame_Shift_Del	DEL	ENST00000518448.1	37	c.1161delG	CCDS6340.1																																																																																				0.766	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		2	4						2	4	---	---	---	---	-	124219784	G	-	124219784	7	5	146	1	0	1	0	1	0	0	0	0	5633	1074	38	0	1175	0	FAM83A	8	124219784	Frame_Shift_Del	DEL	G	TCGA-E8-A2EA-01A-11D-A17V-08	87521736	124219784	22144238	13	2561											
PFKP	5214	broad.mit.edu	37	10	3155654	3155654	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:3155654G>A	ENST00000381125.4	+	13	1391	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	PFKP_ENST00000381075.2_Missense_Mutation_p.D431N	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	439	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGGCATTGCCGACGGCCACAG	0.617																																						uc001igp.3																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1315-1317)Gac>Aac		Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.							47	42	44					10																	3155654		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3155654G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1315G>A	10.37:g.3155654G>A	ENSP00000370517:p.Asp439Asn		Somatic				PFKP_uc001igq.3_Missense_Mutation_p.D431N|PFKP_uc009xhr.3_Missense_Mutation_p.D401N|PFKP_uc009xhs.1_Missense_Mutation_p.D223N|PFKP_uc009xht.3_Missense_Mutation_p.D177N|PFKP_uc009xhu.3_5'UTR	p.D439N	NM_002627	NP_002618	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	12	1391	+			439					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1315G>A	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.764|9.764	1.170990|1.170990	0.21621|0.21621	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005|ENST00000413079	T;T;T|.	0.79247|.	-1.25;-1.25;-1.25|.	5.16|5.16	2.3|2.3	0.28687|0.28687	Phosphofructokinase domain (2);|.	0.313724|.	0.37761|.	N|.	0.001946|.	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.00313|0.00313	-1.665|-1.665	0.80722|0.80722	D|D	1|1	B;B;B|.	0.34200|.	0.014;0.014;0.441|.	B;B;B|.	0.33454|.	0.015;0.015;0.164|.	T|T	0.09997|0.09997	-1.0649|-1.0649	10|5	0.51188|.	T|.	0.08|.	.|.	10.6324|10.6324	0.45545|0.45545	0.2138:0.0:0.7862:0.0|0.2138:0.0:0.7862:0.0	.|.	431;431;439|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	N|Q	439;428;431;223|2	ENSP00000370517:D439N;ENSP00000370465:D431N;ENSP00000408858:D223N|.	ENSP00000370465:D431N|.	D|R	+|+	1|2	0|0	PFKP|PFKP	3145654|3145654	0.998000|0.998000	0.40836|0.40836	0.003000|0.003000	0.11579|0.11579	0.372000|0.372000	0.29890|0.29890	2.524000|2.524000	0.45589|0.45589	0.284000|0.284000	0.22305|0.22305	-0.150000|-0.150000	0.13652|0.13652	GAC|CGA		0.617	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		10	21	0	0	0	1	0	10	21					A	3155654	G	A	3155654	3	1	146	1	0	0	0	0	1	0	0	0	11766	1058	37	1	1365	1	PFKP	10	3155654	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		3155654	132379093	14	2562											
REEP3	221035	broad.mit.edu	37	10	65379435	65379435	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:65379435G>C	ENST00000373758.4	+	7	769	c.586G>C	c.(586-588)Gac>Cac	p.D196H	REEP3_ENST00000298249.4_Missense_Mutation_p.D181H	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	196					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCACTGAAAGACGGAGATGA	0.428																																						uc001jmt.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(586-588)Gac>Cac		Homo sapiens receptor accessory protein 3 (REEP3), mRNA.							53	53	53					10																	65379435		1899	4128	6027	SO:0001583	missense	221035					integral to membrane		g.chr10:65379435G>C	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"Receptor accessory proteins"	23711	protein-coding gene	gene with protein product		609348	"chromosome 10 open reading frame 74"	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.586G>C	10.37:g.65379435G>C	ENSP00000362863:p.Asp196His		Somatic					p.D196H	NM_001001330	NP_001001330	WXS	Illumina GAIIx	Phase_I	Q6NUK4	REEP3_HUMAN			6	769	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		196					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	c.586G>C	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047544	0.36085	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.84070	-1.8;-1.8	5.2	5.2	0.72013	.	0.232667	0.42420	D	0.000711	T	0.74635	0.3742	L	0.38531	1.155	0.40452	D	0.980156	B	0.14012	0.009	B	0.12156	0.007	T	0.71652	-0.4528	10	0.56958	D	0.05	.	9.6199	0.39714	0.0917:0.0:0.9083:0.0	.	196	Q6NUK4	REEP3_HUMAN	H	196;181;198	ENSP00000362863:D196H;ENSP00000298249:D181H	ENSP00000298249:D181H	D	+	1	0	REEP3	65049441	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	2.669000	0.46825	2.691000	0.91804	0.655000	0.94253	GAC		0.428	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		3	15	0	0	0	1	0	3	15					C	65379435	G	C	65379435	3	2	146	1	0	0	0	0	1	0	0	0	13206	942	33	4	612	4	REEP3	10	65379435	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	62223781	65379435	70155312	15	2563											
TRIM5	85363	broad.mit.edu	37	11	5686237	5686237	+	Silent	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:5686237G>C	ENST00000380034.3	-	8	1540	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000305836.5_Silent_p.P428P	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	428	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCACAGAGAGGGGCACAATGA	0.418																																						uc001mbm.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1282-1284)ccC>ccG		Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.							100	96	98					11																	5686237		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686237G>C	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16276	protein-coding gene	gene with protein product	"tripartite motif protein TRIM5", "tripartite motif protein TRIM"	608487	"tripartite motif-containing 5"			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1284C>G	11.37:g.5686237G>C			Somatic				TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	p.P428P	NM_033034	NP_149023	WXS	Illumina GAIIx	Phase_I	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	7	1587	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	428			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.1284C>G	CCDS31393.1																																																																																				0.418	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		3	70	0	0	0	1	0	3	70					C	5686237	G	C	5686237	2	2	146	1	0	0	0	0	0	0	0	1	16522	1219	43	4		4	TRIM5	11	5686237	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		5686237	129320279	16	2564											
LRP5	4041	broad.mit.edu	37	11	68201226	68201226	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:68201226G>C	ENST00000294304.7	+	18	4026	c.3920G>C	c.(3919-3921)cGg>cCg	p.R1307P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1307	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711																																						uc001ont.3																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3919-3921)cGg>cCg		Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.							55	57	56					11																	68201226		2200	4292	6492	SO:0001583	missense	4041				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68201226G>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3920G>C	11.37:g.68201226G>C	ENSP00000294304:p.Arg1307Pro		Somatic				LRP5_uc009ysg.3_Missense_Mutation_p.R717P	p.R1307P	NM_002335	NP_002326	WXS	Illumina GAIIx	Phase_I	O75197	LRP5_HUMAN			17	3995	+			1307			LDL-receptor class A 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3920G>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760946	0.69763	.	.	ENSG00000162337	ENST00000294304	D	0.87650	-2.28	4.39	3.39	0.38822	.	0.179483	0.24836	U	0.035210	D	0.82728	0.5100	L	0.31578	0.945	0.38391	D	0.94539	P;P	0.43788	0.817;0.817	P;P	0.51806	0.68;0.68	T	0.82585	-0.0384	10	0.62326	D	0.03	.	3.5357	0.07793	0.3572:0.0:0.6428:0.0	.	1307;1307	Q9UES7;O75197	.;LRP5_HUMAN	P	1307	ENSP00000294304:R1307P	ENSP00000294304:R1307P	R	+	2	0	LRP5	67957802	0.981000	0.34729	0.996000	0.52242	0.976000	0.68499	2.361000	0.44160	2.298000	0.77334	0.456000	0.33151	CGG		0.711	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	43	0	0	0	1	0	3	43					C	68201226	G	C	68201226	3	2	146	1	0	0	0	0	1	0	0	0	8960	1116	39	4	3990	4	LRP5	11	68201226	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08	62514989	68201226	66805290	17	2565											
DYRK4	8798	broad.mit.edu	37	12	4708955	4708955	+	Splice_Site	SNP	G	G	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:4708955G>A	ENST00000540757.2	+	8	941		c.e8+1		DYRK4_ENST00000543431.1_Splice_Site|DYRK4_ENST00000010132.5_Splice_Site	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CACCAGAAAGGTGAGCCCCAT	0.453																																						uc009zeh.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e10+1		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.							147	136	140					12																	4708955		2203	4300	6503	SO:0001630	splice_region_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708955G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.781+1G>A	12.37:g.4708955G>A			Somatic				DYRK4_uc001qmx.3_Splice_Site_p.V261_splice|DYRK4_uc001qmy.2_Splice_Site_p.V261_splice|DYRK4_uc021qtq.1_Splice_Site_p.V115_splice	p.V376_splice	NM_003845	NP_003836	WXS	Illumina GAIIx	Phase_I	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		10	1168	+			261			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Splice_Site	SNP	ENST00000540757.2	37	c.1126_splice	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362186	0.61403	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5187	0.84308	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYRK4	4579216	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	7.036000	0.76524	2.443000	0.82685	0.561000	0.74099	.		0.453	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		Intron	18	62	0	0	0	1	0	18	62					A	4708955	G	A	4708955	5	1	146	1	0	0	0	0	0	0	1	0	4858	1275	44	2	804	2	DYRK4	12	4708955	Splice_Site	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		4708955	129142940	18	2566											
CAND1	55832	broad.mit.edu	37	12	67704013	67704013	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:67704013C>G	ENST00000545606.1	+	13	3714	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1093					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)		GTACACACTTCTAGACAGTTG	0.343																																						uc001stn.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3277-3279)Cta>Gta		Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.							192	180	184					12																	67704013		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.chr12:67704013C>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3277C>G	12.37:g.67704013C>G	ENSP00000442318:p.Leu1093Val		Somatic				CAND1_uc001sto.2_Missense_Mutation_p.L603V	p.L1093V	NM_018448	NP_060918	WXS	Illumina GAIIx	Phase_I	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)	12	3714	+			1093					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3277C>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311316	0.60414	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.69806	-0.43;-0.43	5.43	1.5	0.22942	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.978;0.999	T	0.78352	-0.2237	9	.	.	.	-7.4441	9.7052	0.40211	0.0:0.6174:0.0:0.3825	.	925;1093	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	1093;1093;633	ENSP00000442318:L1093V;ENSP00000444089:L633V	.	L	+	1	2	CAND1	65990280	0.997000	0.39634	0.990000	0.47175	0.967000	0.64934	0.565000	0.23578	0.062000	0.16340	0.655000	0.94253	CTA		0.343	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		3	59	0	0	0	1	0	3	59					G	67704013	C	G	67704013	3	3	146	1	0	0	0	0	1	0	0	0	2615	912	32	4	3327	4	CAND1	12	67704013	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	62995058	67704013	66147882	19	2567											
STOML3	161003	broad.mit.edu	37	13	39541133	39541133	+	Silent	SNP	G	G	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:39541133G>A	ENST00000379631.4	-	7	1049	c.705C>T	c.(703-705)tcC>tcT	p.S235S	STOML3_ENST00000423210.1_Silent_p.S226S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	235					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCAGCACCATGGAGGCTGACT	0.468																																						uc001uwx.3																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(703-705)tcC>tcT		Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.							79	75	77					13																	39541133		2203	4300	6503	SO:0001819	synonymous_variant	161003					integral to membrane|plasma membrane		g.chr13:39541133G>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.705C>T	13.37:g.39541133G>A			Somatic				STOML3_uc010tez.2_Silent_p.S226S	p.S235S	NM_145286	NP_660329	WXS	Illumina GAIIx	Phase_I	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	6	843	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	235					B4E285|Q5JS35	Silent	SNP	ENST00000379631.4	37	c.705C>T	CCDS9367.1																																																																																				0.468	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			9	37	0	0	0	1	0	9	37					A	39541133	G	A	39541133	2	1	146	1	0	0	0	0	0	0	0	1	15314	1335	47	2		2	STOML3	13	39541133	Silent	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		39541133	75628745	20	2568											
SLC15A1	6564	broad.mit.edu	37	13	99339859	99339859	+	Silent	SNP	C	C	G	rs146831294		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:99339859C>G	ENST00000376503.5	-	21	1858	c.1803G>C	c.(1801-1803)acG>acC	p.T601T		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	601					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATTCCAATCCCGTGACAGAGA	0.423																																						uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1801-1803)acG>acC		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						135	127	129					13																	99339859		2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99339859C>G	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1803G>C	13.37:g.99339859C>G			Somatic					p.T601T	NM_005073	NP_005064	WXS	Illumina GAIIx	Phase_I	P46059	S15A1_HUMAN			20	1880	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		601					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1803G>C	CCDS9489.1																																																																																				0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		4	152	0	0	0	1	0	4	152					G	99339859	C	G	99339859	2	3	146	1	0	0	0	0	0	0	0	1	14398	639	23	4		4	SLC15A1	13	99339859	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	59798726	99339859	15830019	21	2569											
ADAMTS7	11173	broad.mit.edu	37	15	79069817	79069817	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr15:79069817C>G	ENST00000388820.4	-	9	1646	c.1436G>C	c.(1435-1437)gGg>gCg	p.G479A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	479	Disintegrin.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGTAGGCCCCGTACTGGAG	0.652																																						uc002bej.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(1435-1437)gGg>gCg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.							51	46	47					15																	79069817		2195	4291	6486	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79069817C>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1436G>C	15.37:g.79069817C>G	ENSP00000373472:p.Gly479Ala		Somatic				ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G479A	p.G479A	NM_014272	NP_055087	WXS	Illumina GAIIx	Phase_I	Q9UKP4	ATS7_HUMAN			8	1647	-			479			Disintegrin.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1436G>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.753111	0.49362	.	.	ENSG00000136378	ENST00000388820	T	0.11821	2.74	4.02	4.02	0.46733	.	0.000000	0.85682	U	0.000000	T	0.48429	0.1499	H	0.95043	3.615	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.65043	-0.6264	10	0.87932	D	0	.	13.6895	0.62537	0.0:1.0:0.0:0.0	.	479;479	A8MQ00;Q9UKP4	.;ATS7_HUMAN	A	479	ENSP00000373472:G479A	ENSP00000373472:G479A	G	-	2	0	ADAMTS7	76856872	0.999000	0.42202	0.217000	0.23759	0.022000	0.10575	5.641000	0.67881	2.078000	0.62432	0.450000	0.29827	GGG		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	16	0	0	0	1	0	3	16					G	79069817	C	G	79069817	3	3	146	1	0	0	0	0	1	0	0	0	271	623	22	4	3688	4	ADAMTS7	15	79069817	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		79069817	23461575	22	2570											
CDR2	1039	broad.mit.edu	37	16	22360757	22360757	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr16:22360757C>T	ENST00000268383.2	-	4	656	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	117						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCAATCGTTTCAGTCAGGCTG	0.512																																						uc002dkn.3																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(349-351)Gaa>Aaa		Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.							99	103	101					16																	22360757		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22360757C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.349G>A	16.37:g.22360757C>T	ENSP00000268383:p.Glu117Lys		Somatic					p.E117K	NM_001802	NP_001793	WXS	Illumina GAIIx	Phase_I	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	3	657	-			117					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.349G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482990	0.96307	.	.	ENSG00000140743	ENST00000268383	T	0.28895	1.59	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.47005	-0.9150	10	0.20046	T	0.44	-8.6816	19.7365	0.96208	0.0:1.0:0.0:0.0	.	117	Q01850	CDR2_HUMAN	K	117	ENSP00000268383:E117K	ENSP00000268383:E117K	E	-	1	0	CDR2	22268258	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.157000	0.77461	2.672000	0.90937	0.655000	0.94253	GAA		0.512	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			10	142	0	0	0	1	0	10	142					T	22360757	C	T	22360757	3	4	146	1	0	0	0	0	1	0	0	0	3172	835	29	2	1023	2	CDR2	16	22360757	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		22360757	67993996	23	2571											
TMEM49	81671	broad.mit.edu	37	17	57917128	57917129	+	Splice_Site	DNP	GG	GG	TT			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr17:57917128_57917129GG>TT	ENST00000262291.4	+	12	1387_1388	c.1077_1078GG>TT	c.(1075-1080)caGGga>caTTga	p.359_360QG>H*	VMP1_ENST00000588617.1_3'UTR|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000539763.1_Splice_Site_p.167_168QG>H*|VMP1_ENST00000537567.1_Splice_Site_p.225_226QG>H*|VMP1_ENST00000545362.1_Splice_Site_p.303_304QG>H*|VMP1_ENST00000536180.1_Splice_Site_p.262_263QG>H*	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	359					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TATTTCTACAGGGAGAAAACTG	0.361																																						uc002ixu.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.e12-1		Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.																																				SO:0001630	splice_region_variant	81671				autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57917128_57917129GG>TT		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	Exception_encountered	17.37:g.57917128_57917129delinsTT			Somatic				VMP1_uc010wog.2_Splice_Site_p.G168_splice|VMP1_uc010woh.2_Splice_Site_p.G304_splice|VMP1_uc010woi.2_Splice_Site_p.G263_splice|VMP1_uc010woj.2_Splice_Site_p.G226_splice|MIR21_uc002ixv.3_5'Flank	p.G360_splice	NM_030938	NP_112200	WXS	Illumina GAIIx	Phase_I	Q96GC9	VMP1_HUMAN			12	1351	+			360					B4DVV9|Q9H0P4|Q9P089	Splice_Site	DNP	ENST00000262291.4	37	c.1078_splice	CCDS11619.1																																																																																				0.361	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938	Nonsense_Mutation	9	289	0	0	0	1	0	9	289					TT	57917129	GG	TT	57917128	5	4	146	1	0	0	0	0	0	0	1	0	16170	1014	35	4	1119	4	TMEM49	17	57917128	Splice_Site	DNP	GG	TCGA-E8-A2EA-01A-11D-A17V-08		57917128	23278082	24	2572											
SAMD1	646457	broad.mit.edu	37	19	14199308	14199308	+	5'Flank	SNP	A	A	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:14199308A>G	ENST00000548523.1	-	0	0				SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.L407P|C19orf67_ENST00000547589.1_5'Flank	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						GTAGATTTTCAGGGCTGGCCC	0.582																																						uc010xnl.2																			0				endometrium(3)	3						c.(1219-1221)cTg>cCg		Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.							63	70	68					19																	14199308		2046	4168	6214	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199308A>G		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199308A>G	Exception_encountered		Somatic					p.L407P	NM_138352	NP_612361	WXS	Illumina GAIIx	Phase_I	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	5	1220	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	513						Missense_Mutation	SNP	ENST00000548523.1	37	c.1220T>C	CCDS59360.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915250	0.52546	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T;T	0.53640	0.61;0.61	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000004	T	0.74635	0.3742	H	0.94306	3.52	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80730	-0.1252	10	0.87932	D	0	-15.8885	10.3127	0.43718	1.0:0.0:0.0:0.0	.	407	E9PIW9	.	P	407;107	ENSP00000431971:L407P;ENSP00000269724:L107P	ENSP00000269724:L107P	L	-	2	0	SAMD1	14060308	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	8.274000	0.89889	1.937000	0.56155	0.528000	0.53228	CTG		0.582	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		3	67	0	0	0	1	0	3	67					G	14199308	A	G	14199308	1	3	146	0	1	0	0	0	0	0	0	0	13814	188	7	3		3	SAMD1	19	14199308	5'Flank	SNP	A	TCGA-E8-A2EA-01A-11D-A17V-08		14199308	44929675	25	2573											
ZNF577	84765	broad.mit.edu	37	19	52376484	52376484	+	Silent	SNP	C	C	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:52376484C>A	ENST00000301399.5	-	7	1124	c.759G>T	c.(757-759)cgG>cgT	p.R253R	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Silent_p.R194R|ZNF577_ENST00000451628.2_Silent_p.R194R	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	253					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)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCGGCACTTCCGGCTGAAGG	0.498																																						uc010yde.2																			0		p.H253Y(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(757-759)cgG>cgT		Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.							67	62	64					19																	52376484		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376484C>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.759G>T	19.37:g.52376484C>A			Somatic				ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.R194R|ZNF577_uc002pxv.3_Silent_p.R246R|ZNF577_uc002pxw.3_Silent_p.R187R	p.R253R	NM_032679	NP_116068	WXS	Illumina GAIIx	Phase_I	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1150	-		all_neural(266;0.0602)	253					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.759G>T	CCDS12842.2																																																																																				0.498	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		12	29	0	0	0	1	0	12	29					A	52376484	C	A	52376484	2	1	146	1	0	0	0	0	0	0	0	1	18006	842	30	4		4	ZNF577	19	52376484	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	38177176	52376484	6752499	26	2574											
ZNF580	51157	broad.mit.edu	37	19	56153901	56153901	+	Silent	SNP	C	C	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:56153901C>G	ENST00000543039.1	+	1	484	c.27C>G	c.(25-27)ccC>ccG	p.P9P	ZNF581_ENST00000587252.1_Intron|ZNF581_ENST00000270451.5_5'Flank|ZNF581_ENST00000588537.1_5'Flank|ZNF580_ENST00000325333.5_Silent_p.P9P|ZNF580_ENST00000545125.1_Silent_p.P9P	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	9	Pro-rich.				cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGCGGCCACCCCACCCTCGGT	0.647																																						uc002qlo.3																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(25-27)ccC>ccG		Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA.							14	16	16					19																	56153901		1813	3807	5620	SO:0001819	synonymous_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56153901C>G	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"Zinc fingers, C2H2-type"	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.27C>G	19.37:g.56153901C>G			Somatic				ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.P9P|ZNF580_uc010ygd.2_Silent_p.P9P|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank	p.P9P	NM_207115	NP_996998	WXS	Illumina GAIIx	Phase_I	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	197	+			9			Pro-rich.		B2RC05|Q9NPP7	Silent	SNP	ENST00000543039.1	37	c.27C>G	CCDS12931.1																																																																																				0.647	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		3	36	0	0	0	1	0	3	36					G	56153901	C	G	56153901	2	3	146	1	0	0	0	0	0	0	0	1	18009	610	22	4		4	ZNF580	19	56153901	Silent	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08	3777417	56153901	2975082	27	2575											
CSF2RB	1439	broad.mit.edu	37	22	37333582	37333582	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr22:37333582C>T	ENST00000403662.3	+	14	1954	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	CSF2RB_ENST00000262825.5_Missense_Mutation_p.H584Y|CSF2RB_ENST00000406230.1_Missense_Mutation_p.H584Y|CSF2RB_ENST00000536485.1_Missense_Mutation_p.H525Y			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	578					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCGCCTCCCACACACCTGA	0.662																																						uc003aqc.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1750-1752)Cac>Tac		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						20	23	22					22																	37333582		2202	4298	6500	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333582C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1732C>T	22.37:g.37333582C>T	ENSP00000384053:p.His578Tyr		Somatic				CSF2RB_uc003aqa.4_Missense_Mutation_p.H578Y	p.H584Y	NM_000395	NP_000386	WXS	Illumina GAIIx	Phase_I	P32927	IL3RB_HUMAN			12	1922	+			578					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1750C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033067	0.35893	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91464	-2.34;-2.85;-2.85;-2.85	5.08	-9.01	0.00744	.	2.704760	0.01041	N	0.004317	T	0.77130	0.4085	N	0.22421	0.69	0.09310	N	1	P;P	0.41569	0.755;0.641	B;B	0.37550	0.253;0.171	T	0.72090	-0.4395	10	0.18276	T	0.48	-1.2323	2.4987	0.04628	0.4742:0.2221:0.1977:0.106	.	584;578	P32927-2;P32927	.;IL3RB_HUMAN	Y	578;578;584;584;525	ENSP00000384053:H578Y;ENSP00000262825:H584Y;ENSP00000385271:H584Y;ENSP00000440003:H525Y	ENSP00000262825:H584Y	H	+	1	0	CSF2RB	35663528	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.243000	0.01194	-0.676000	0.05238	-0.357000	0.07601	CAC		0.662	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		7	18	0	0	0	1	0	7	18					T	37333582	C	T	37333582	3	4	146	1	0	0	0	0	1	0	0	0	3935	594	21	2	1782	2	CSF2RB	22	37333582	Missense_Mutation	SNP	C	TCGA-E8-A2EA-01A-11D-A17V-08		37333582	13970984	28	2576											
PLXNB3	5365	broad.mit.edu	37	X	153039673	153039673	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chrX:153039673G>C	ENST00000361971.5	+	21	3666	c.3552G>C	c.(3550-3552)gaG>gaC	p.E1184D	PLXNB3_ENST00000538776.1_Missense_Mutation_p.E837D|PLXNB3_ENST00000538966.1_Missense_Mutation_p.E1207D|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Missense_Mutation_p.E794D	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1184	IPT/TIG 4.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAAGGAGGAGGTGCGCG	0.711																																						uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3619-3621)gaG>gaC		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							15	14	14					X																	153039673		2177	4272	6449	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039673G>C	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3552G>C	X.37:g.153039673G>C	ENSP00000355378:p.Glu1184Asp		Somatic				PLXNB3_uc004fii.2_Missense_Mutation_p.E1184D|PLXNB3_uc011mzd.1_Missense_Mutation_p.E823D|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	p.E1207D	NM_001163257	NP_001156729	WXS	Illumina GAIIx	Phase_I	Q9ULL4	PLXB3_HUMAN			21	3892	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1184			IPT/TIG 4.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3621G>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	6.367	0.435879	0.12104	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.31	0.123	0.14709	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.398644	0.28241	N	0.016061	T	0.59662	0.2210	L	0.31926	0.97	0.34500	D	0.705899	B;B;B	0.16166	0.005;0.016;0.005	B;B;B	0.20384	0.029;0.026;0.029	T	0.49523	-0.8931	10	0.12103	T	0.63	.	6.4732	0.22020	0.2927:0.3197:0.3876:0.0	.	837;1207;1184	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	D	1207;1184;837;794	ENSP00000442736:E1207D;ENSP00000355378:E1184D;ENSP00000445569:E837D;ENSP00000441919:E794D	ENSP00000355378:E1184D	E	+	3	2	PLXNB3	152692867	0.982000	0.34865	0.995000	0.50966	0.095000	0.18619	0.141000	0.16076	-0.114000	0.11936	-2.724000	0.00131	GAG		0.711	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	13	0	0	0	1	0	4	13					C	153039673	G	C	153039673	3	2	146	1	0	0	0	0	1	0	0	0	12125	991	35	4	3748	4	PLXNB3	23	153039673	Missense_Mutation	SNP	G	TCGA-E8-A2EA-01A-11D-A17V-08		153039673	2230887	29	2577											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	80	0	0	0	1	0	23	80					T	140453136	A	T	140453136	3	4	147	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A413-01A-21D-A23M-08		140453136	18685527	1	2578											
NAA16	79612	broad.mit.edu	37	13	41949684	41949684	+	Silent	SNP	T	T	G			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr13:41949684T>G	ENST00000379406.3	+	20	2865	c.2541T>G	c.(2539-2541)ccT>ccG	p.P847P	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	847					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCGACAATCCTAATGTGGCAC	0.393																																						uc001uyf.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(2539-2541)ccT>ccG		Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.							155	133	141					13																	41949684		2203	4300	6503	SO:0001819	synonymous_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41949684T>G	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2541T>G	13.37:g.41949684T>G			Somatic				NAA16_uc010tfg.1_Non-coding_Transcript	p.P847P	NM_024561	NP_078837	WXS	Illumina GAIIx	Phase_I	Q6N069	NAA16_HUMAN			19	2865	+			847					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	c.2541T>G	CCDS9379.1																																																																																				0.393	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		32	91	0	0	0	1	0	32	91					G	41949684	T	G	41949684	2	3	147	1	0	0	0	0	0	0	0	1	10119	1509	53	5		5	NAA16	13	41949684	Silent	SNP	T	TCGA-E8-A413-01A-21D-A23M-08		41949684	73220194	2	2579											
ZC3H13	23091	broad.mit.edu	37	13	46559772	46559772	+	Silent	SNP	A	A	G			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr13:46559772A>G	ENST00000242848.4	-	10	1728	c.1380T>C	c.(1378-1380)gaT>gaC	p.D460D	ZC3H13_ENST00000282007.3_Silent_p.D460D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	460	Arg/Ser-rich.						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)		TATCTCTGGCATCTCTCCGAT	0.488																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			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.(1378-1380)gaT>gaC		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							219	203	208					13																	46559772		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46559772A>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1380T>C	13.37:g.46559772A>G			Somatic				ZC3H13_uc001vas.1_Silent_p.D460D|ZC3H13_uc001vat.1_Silent_p.D460D	p.D460D	NM_015070	NP_055885	WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	8	1386	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	460			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.1380T>C																																																																																					0.488	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		10	215	0	0	0	1	0	10	215					G	46559772	A	G	46559772	2	3	147	1	0	0	0	0	0	0	0	1	17562	214	8	3		3	ZC3H13	13	46559772	Silent	SNP	A	TCGA-E8-A413-01A-21D-A23M-08	4610088	46559772	68610106	3	2580											
C14orf183	196913	broad.mit.edu	37	14	50550617	50550617	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr14:50550617C>T	ENST00000305273.1	-	5	726	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	243										endometrium(2)|large_intestine(2)|lung(3)	7						CCACCAACACCGCACCCACCT	0.677																																						uc010tqk.2																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(727-729)Ggt>Agt		Homo sapiens chromosome 14 open reading frame 183 (C14orf183), mRNA.							12	14	14					14																	50550617		1902	4093	5995	SO:0001583	missense	196913							g.chr14:50550617C>T	AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.727G>A	14.37:g.50550617C>T	ENSP00000303234:p.Gly243Ser		Somatic					p.G243S	NM_001014830	NP_001014830	WXS	Illumina GAIIx	Phase_I	Q8WXQ3	CN183_HUMAN			4	727	-			243						Missense_Mutation	SNP	ENST00000305273.1	37	c.727G>A	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	C	5.504	0.277901	0.10403	.	.	ENSG00000168260	ENST00000305273	.	.	.	1.95	-3.9	0.04181	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14896	-1.0456	8	0.87932	D	0	.	5.7047	0.17901	0.0:0.363:0.1434:0.4936	.	243	Q8WXQ3	CN183_HUMAN	S	243	.	ENSP00000303234:G243S	G	-	1	0	C14orf183	49620367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.739000	0.01840	-2.423000	0.00562	-2.035000	0.00420	GGT		0.677	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830		3	29	0	0	0	1	0	3	29					T	50550617	C	T	50550617	3	4	147	1	0	0	0	0	1	0	0	0	1766	652	23	1	250	1	C14orf183	14	50550617	Missense_Mutation	SNP	C	TCGA-E8-A413-01A-21D-A23M-08		50550617	56798923	4	2581											
SLC28A1	9154	broad.mit.edu	37	15	85478621	85478621	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A413-01A-21D-A23M-08	TCGA-E8-A413-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd754e97-f9c6-456e-9717-b7d62c71bef1	2ca22eb2-35b8-4dae-9781-138eeda9725e	g.chr15:85478621G>A	ENST00000286749.3	+	14	1543	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SLC28A1_ENST00000537216.1_Missense_Mutation_p.V485I|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.V485I|SLC28A1_ENST00000537624.1_Missense_Mutation_p.V485I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	485					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CTGCCCAGTGGTAGCTGAGCT	0.597																																						uc002blg.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1453-1455)Gta>Ata		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.							129	104	113					15																	85478621		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478621G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1453G>A	15.37:g.85478621G>A	ENSP00000286749:p.Val485Ile		Somatic				SLC28A1_uc010bnb.3_Missense_Mutation_p.V485I|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V485I|SLC28A1_uc010upg.1_Missense_Mutation_p.V485I	p.V485I	NM_004213	NP_004204	WXS	Illumina GAIIx	Phase_I	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		14	1655	+			485					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1453G>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481121	0.84747	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.19	5.19	0.71726	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	M	0.78916	2.43	0.80722	D	1	D;P;D	0.60575	0.988;0.914;0.965	P;P;P	0.61722	0.893;0.868;0.893	T	0.00579	-1.1661	10	0.59425	D	0.04	-12.5527	16.2565	0.82519	0.0:0.0:1.0:0.0	.	485;485;485	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	I	485	ENSP00000440546:V485I;ENSP00000444700:V485I;ENSP00000286749:V485I;ENSP00000378074:V485I	ENSP00000286749:V485I	V	+	1	0	SLC28A1	83279625	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	9.280000	0.95786	2.698000	0.92095	0.455000	0.32223	GTA		0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			28	79	0	0	0	1	0	28	79					A	85478621	G	A	85478621	3	1	147	1	0	0	0	0	1	0	0	0	14531	1261	44	2	1574	2	SLC28A1	15	85478621	Missense_Mutation	SNP	G	TCGA-E8-A413-01A-21D-A23M-08		85478621	17052771	5	2582											
PDE4DIP	9659	broad.mit.edu	37	1	144854644	144854644	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr1:144854644C>T	ENST00000369354.3	-	42	7015	c.6826G>A	c.(6826-6828)Gaa>Aaa	p.E2276K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E2412K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2361K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2276K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2170K|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2276					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)		AGTTCCCTTTCTGTTGATTCT	0.478			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		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.(6826-6828)Gaa>Aaa		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							232	202	212					1																	144854644		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	g.chr1:144854644C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6826G>A	1.37:g.144854644C>T	ENSP00000358360:p.Glu2276Lys		Somatic				NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E2276K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E2170K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E1283K	p.E2276K	NM_001198834	NP_001185763	WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	41	7128	-			2276					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.6826G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	0.214	-1.033845	0.02029	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01215	5.16;5.26;5.23;5.23;5.24	4.0	-0.566	0.11767	.	.	.	.	.	T	0.00144	0.0004	N	0.01729	-0.75	0.20489	N	0.999898	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33701	-0.9858	9	0.02654	T	1	.	4.437	0.11555	0.0:0.4262:0.1771:0.3967	.	2170;2276	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	2170;2276;2276;2361;2412	ENSP00000327209:E2170K;ENSP00000358360:E2276K;ENSP00000358363:E2276K;ENSP00000435654:E2361K;ENSP00000358366:E2412K	ENSP00000327209:E2170K	E	-	1	0	PDE4DIP	143566001	0.007000	0.16637	0.014000	0.15608	0.695000	0.40330	-0.028000	0.12350	-0.038000	0.13624	0.442000	0.29010	GAA		0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		23	152	0	0	0	1	0	23	152					T	144854644	C	T	144854644	3	4	148	1	0	0	0	0	1	0	0	0	11643	922	32	2	226	2	PDE4DIP	1	144854644	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		144854644	104395977	1	2583											
NLRC4	58484	broad.mit.edu	37	2	32476199	32476199	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr2:32476199A>G	ENST00000404025.2	-	5	1222	c.734T>C	c.(733-735)tTc>tCc	p.F245S	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.F245S|NLRC4_ENST00000402280.1_Missense_Mutation_p.F245S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	245	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATCAAGAAGGAAAAGAACCCT	0.483																																						uc002roi.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(733-735)tTc>tCc		Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.							92	93	93					2																	32476199		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476199A>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.734T>C	2.37:g.32476199A>G	ENSP00000385090:p.Phe245Ser		Somatic				NLRC4_uc021vfq.1_Missense_Mutation_p.F245S|NLRC4_uc002roj.2_Missense_Mutation_p.F245S|NLRC4_uc010ezt.2_Intron	p.F245S	NM_001199138	NP_001186067	WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			3	995	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		245			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.734T>C	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951608	0.34471	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	D;D;D	0.81821	-1.54;-1.54;-1.54	3.27	3.27	0.37495	NACHT nucleoside triphosphatase (1);	0.000000	0.49305	D	0.000143	D	0.87313	0.6146	M	0.70595	2.14	0.34608	D	0.717244	D	0.76494	0.999	D	0.85130	0.997	D	0.90811	0.4701	9	0.87932	D	0	-11.8508	11.0079	0.47646	1.0:0.0:0.0:0.0	.	245	Q9NPP4	NLRC4_HUMAN	S	245	ENSP00000354159:F245S;ENSP00000385428:F245S;ENSP00000385090:F245S	ENSP00000354159:F245S	F	-	2	0	NLRC4	32329703	1.000000	0.71417	0.116000	0.21606	0.276000	0.26787	5.037000	0.64170	1.497000	0.48584	0.443000	0.29094	TTC		0.483	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		16	111	0	0	0	1	0	16	111					G	32476199	A	G	32476199	3	3	148	1	0	0	0	0	1	0	0	0	10469	246	9	3	2364	3	NLRC4	2	32476199	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08		32476199	210723174	2	2584											
ABLIM3	22885	broad.mit.edu	37	5	148624541	148624541	+	Silent	SNP	G	G	A	rs563171577		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr5:148624541G>A	ENST00000506113.1	+	15	1931	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	ABLIM3_ENST00000517451.1_5'UTR|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.S483S|ABLIM3_ENST00000508983.1_Silent_p.S450S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Silent_p.S372S|ABLIM3_ENST00000326685.7_Silent_p.S388S|ABLIM3_ENST00000356541.3_Silent_p.S372S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	483					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATGCTTCGGAGTCTGAGT	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		18335	0		0	False		,,,				2504	0					uc003lpy.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1447-1449)tcG>tcA		Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.							114	103	107					5																	148624541		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148624541G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1449G>A	5.37:g.148624541G>A			Somatic				ABLIM3_uc003lpz.1_Silent_p.S483S|ABLIM3_uc003lqa.1_Silent_p.S380S|ABLIM3_uc003lqb.3_Silent_p.S372S|ABLIM3_uc003lqc.1_Silent_p.S450S|ABLIM3_uc003lqd.1_Silent_p.S388S|ABLIM3_uc003lqe.1_Silent_p.S372S|ABLIM3_uc003lqf.3_Silent_p.S372S	p.S483S	NM_014945	NP_055760	WXS	Illumina GAIIx	Phase_I	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1700	+			483					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.1449G>A	CCDS4294.1																																																																																				0.547	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		6	70	0	0	0	1	0	6	70					A	148624541	G	A	148624541	2	1	148	1	0	0	0	0	0	0	0	1	96	1103	39	1		1	ABLIM3	5	148624541	Silent	SNP	G	TCGA-E8-A415-01A-11D-A23M-08		148624541	32290719	3	2585											
NPSR1	387129	broad.mit.edu	37	7	34698077	34698077	+	Missense_Mutation	SNP	C	C	T	rs149663215	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:34698077C>T	ENST00000360581.1	+	1	181	c.53C>T	c.(52-54)aCg>aTg	p.T18M	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.T18M|NPSR1_ENST00000465305.1_Missense_Mutation_p.T18M|NPSR1_ENST00000531252.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381539.3_Missense_Mutation_p.T18M|NPSR1_ENST00000381553.3_Missense_Mutation_p.T18M|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.T18M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	18						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCGGGCAGACGCTGGATTCT	0.542													C|||	2	0.000399361	0.0015	0	5008	,	,		19376	0		0	False		,,,				2504	0					uc003teh.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(52-54)aCg>aTg		Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	Halothane(DB01159)	C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	100	92	94		53,53	0.1	0.0	7	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NPSR1	NM_207172.1,NM_207173.1	81,81	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	benign,benign	18/372,18/378	34698077	4,13002	2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34698077C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.53C>T	7.37:g.34698077C>T	ENSP00000353788:p.Thr18Met		Somatic				NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.T18M|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.T18M|NPSR1_uc003tei.1_Missense_Mutation_p.T18M|NPSR1_uc010kww.1_Missense_Mutation_p.T18M|NPSR1_uc011kar.1_Missense_Mutation_p.T18M	p.T18M	NM_207173	NP_997056	WXS	Illumina GAIIx	Phase_I	Q6W5P4	NPSR1_HUMAN			0	181	+			18					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.53C>T	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578291	0.03854	4.54E-4	2.33E-4	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.39	0.118	0.14667	.	0.576754	0.16289	N	0.220992	T	0.13200	0.0320	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B	0.23185	0.081;0.013;0.011;0.013;0.029;0.017	B;B;B;B;B;B	0.14023	0.007;0.01;0.01;0.01;0.01;0.006	T	0.21930	-1.0231	10	0.25751	T	0.34	-0.986	5.4874	0.16757	0.0:0.5415:0.1478:0.3107	.	18;18;18;18;18;18	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	M	18	ENSP00000370965:T18M;ENSP00000434955:T18M;ENSP00000353788:T18M;ENSP00000370953:T18M;ENSP00000352839:T18M;ENSP00000433258:T18M;ENSP00000370950:T18M	ENSP00000352839:T18M	T	+	2	0	NPSR1	34664602	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.220000	0.09215	-0.335000	0.08451	-1.134000	0.01955	ACG		0.542	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		18	50	0	0	0	1	0	18	50					T	34698077	C	T	34698077	3	4	148	1	0	0	0	0	1	0	0	0	10600	536	19	1	55	1	NPSR1	7	34698077	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		34698077	124440586	4	2586											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	32	0	0	0	1	0	9	32					T	140453136	A	T	140453136	3	4	148	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08	105755059	140453136	18685527	5	2587											
ZNF169	169841	broad.mit.edu	37	9	97062729	97062729	+	Nonsense_Mutation	SNP	C	C	T	rs145151490	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:97062729C>T	ENST00000395395.2	+	5	979	c.889C>T	c.(889-891)Cga>Tga	p.R297*	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	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)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGAATGTGGGCGACACTTCAG	0.562													C|||	2	0.000399361	0	0	5008	,	,		20375	0		0.002	False		,,,				2504	0					uc004aum.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(889-891)Cga>Tga		Homo sapiens zinc finger protein 169 (ZNF169), mRNA.							91	92	92					9																	97062729		2203	4300	6503	SO:0001587	stop_gained	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062729C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.889C>T	9.37:g.97062729C>T	ENSP00000378792:p.Arg297*		Somatic				ZNF169_uc022bki.1_Nonsense_Mutation_p.R298*	p.R297*	NM_194320	NP_919301	WXS	Illumina GAIIx	Phase_I	Q14929	ZN169_HUMAN			4	994	+		Acute lymphoblastic leukemia(62;0.136)	297					A2AGP5|A8K127|Q6PI28	Nonsense_Mutation	SNP	ENST00000395395.2	37	c.889C>T	CCDS6709.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	13.37	2.216721	0.39201	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	.	.	.	2.83	-1.61	0.08399	.	.	.	.	.	.	.	.	.	.	.	0.37935	D	0.932125	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	3.4135	0.07366	0.506:0.2664:0.0:0.2276	.	.	.	.	X	297;106	.	ENSP00000340711:R106X	R	+	1	2	ZNF169	96102550	0.437000	0.25593	0.155000	0.22561	0.420000	0.31355	1.414000	0.34736	-0.358000	0.08162	-0.904000	0.02843	CGA		0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		23	79	0	0	0	1	0	23	79					T	97062729	C	T	97062729	4	4	148	1	0	0	0	0	0	1	0	0	17739	760	27	1	903	1	ZNF169	9	97062729	Nonsense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		97062729	44150702	6	2588											
ABCA2	20	broad.mit.edu	37	9	139915257	139915257	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:139915257T>C	ENST00000371605.3	-	8	1298	c.1151A>G	c.(1150-1152)gAg>gGg	p.E384G	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.E385G|ABCA2_ENST00000341511.6_Missense_Mutation_p.E385G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	384					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTGCGCCCTCCTCAGCGGT	0.716																																						uc004ckm.1																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1240-1242)gAg>gGg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.							7	8	8					9																	139915257		1986	4100	6086	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139915257T>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1151A>G	9.37:g.139915257T>C	ENSP00000360666:p.Glu384Gly		Somatic				ABCA2_uc022bpy.1_Missense_Mutation_p.E315G|ABCA2_uc022bpz.1_Missense_Mutation_p.E385G|ABCA2_uc011mem.1_Missense_Mutation_p.E384G|ABCA2_uc004ckl.1_Missense_Mutation_p.E315G|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E161G|ABCA2_uc010nca.3_Missense_Mutation_p.E315G	p.E414G	NM_212533	NP_997698	WXS	Illumina GAIIx	Phase_I	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	8	1291	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	384					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1241A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.50|10.50	1.368041|1.368041	0.24771|0.24771	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511|ENST00000470535	D;D;D|.	0.88277|.	-2.36;-2.36;-2.36|.	4.71|4.71	3.48|3.48	0.39840|0.39840	.|.	797.280000|.	0.00805|.	U|.	0.001441|.	T|T	0.43456|0.43456	0.1248|0.1248	N|N	0.24115|0.24115	0.695|0.695	0.39079|0.39079	D|D	0.960878|0.960878	B;B;B|.	0.27498|.	0.18;0.001;0.18|.	B;B;B|.	0.16722|.	0.016;0.003;0.016|.	T|T	0.35699|0.35699	-0.9778|-0.9778	10|5	0.62326|.	D|.	0.03|.	.|.	10.9607|10.9607	0.47383|0.47383	0.0:0.0:0.1568:0.8432|0.0:0.0:0.1568:0.8432	.|.	384;414;415|.	Q9BZC7;E7EU84;E7ETC3|.	ABCA2_HUMAN;.;.|.	G|G	385;384;415;385|1	ENSP00000265662:E385G;ENSP00000360666:E384G;ENSP00000344155:E385G|.	ENSP00000265662:E385G|.	E|R	-|-	2|1	0|2	ABCA2|ABCA2	139035078|139035078	1.000000|1.000000	0.71417|0.71417	0.786000|0.786000	0.31890|0.31890	0.029000|0.029000	0.11900|0.11900	3.761000|3.761000	0.55242|0.55242	1.753000|1.753000	0.51906|0.51906	0.379000|0.379000	0.24179|0.24179	GAG|AGG		0.716	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	12	0	0	0	1	0	3	12					C	139915257	T	C	139915257	3	2	148	1	0	0	0	0	1	0	0	0	32	1551	54	3	6320	3	ABCA2	9	139915257	Missense_Mutation	SNP	T	TCGA-E8-A415-01A-11D-A23M-08	42852528	139915257	1298174	7	2589											
CYFIP1	23191	broad.mit.edu	37	15	22956381	22956381	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr15:22956381A>T	ENST00000435939.2	+	1	627	c.325A>T	c.(325-327)Ata>Tta	p.I109L	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1			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)		TGAGTTTGGCATAACTAATGT	0.532																																						uc001yuu.3																			0		p.E109D(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						c.(325-327)Ata>Tta		Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 2, mRNA.							58	63	61					15																	22956381		1327	2309	3636	SO:0001583	missense	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	Rac GTPase binding|actin filament binding	g.chr15:22956381A>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000435939.2:c.325A>T	15.37:g.22956381A>T	ENSP00000405956:p.Ile109Leu		Somatic				CYFIP1_uc001yus.3_Intron|CYFIP1_uc001yut.3_Intron|CYFIP1_uc010aya.1_Intron	p.I109L	NM_001033028	NP_001028200	WXS	Illumina GAIIx	Phase_I	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	0	627	+		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)	0						Missense_Mutation	SNP	ENST00000435939.2	37	c.325A>T	CCDS45189.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334535	0.24253	.	.	ENSG00000068793	ENST00000435939	T	0.32023	1.47	5.6	-5.76	0.02376	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	8	0.27082	T	0.32	.	2.7817	0.05362	0.5331:0.1022:0.2031:0.1616	.	109	Q7L576-2	.	L	109	ENSP00000405956:I109L	ENSP00000405956:I109L	I	+	1	0	CYFIP1	20507822	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.665000	0.05286	-0.683000	0.05190	-0.230000	0.12252	ATA		0.532	CYFIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415634.1	NM_014608		10	47	0	0	0	1	0	10	47					T	22956381	A	T	22956381	3	4	148	1	0	0	0	0	1	0	0	0	4137	217	8	5	2057	5	CYFIP1	15	22956381	Missense_Mutation	SNP	A	TCGA-E8-A415-01A-11D-A23M-08		22956381	79575011	8	2590											
ARHGEF15	22899	broad.mit.edu	37	17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T	rs200249246		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr17:8216353C>T	ENST00000361926.3	+	3	825	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	239					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.R239C(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGGGTCCCCCGTCGGGCCTC	0.706													C|||	1	0.000199681	0	0	5008	,	,		12765	0.001		0	False		,,,				2504	0					uc002glc.3																			1	Substitution - Missense(1)	p.R239C(2)	urinary_tract(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(715-717)Cgt>Tgt		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.							47	58	54					17																	8216353		2203	4295	6498	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216353C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.715C>T	17.37:g.8216353C>T	ENSP00000355026:p.Arg239Cys		Somatic				ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Missense_Mutation_p.R239C|ARHGEF15_uc010vuw.2_Intron	p.R239C	NM_173728	NP_776089	WXS	Illumina GAIIx	Phase_I	O94989	ARHGF_HUMAN			2	870	+			239					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.715C>T	CCDS11139.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.961	0.178488	0.09443	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.40476	1.03;1.03	4.05	1.82	0.25136	.	0.552963	0.18083	N	0.152253	T	0.13670	0.0331	N	0.01576	-0.805	0.31170	N	0.703266	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.38643	T	0.18	-11.9837	3.0629	0.06205	0.2093:0.1176:0.0:0.6731	.	239	O94989	ARHGF_HUMAN	C	239	ENSP00000355026:R239C;ENSP00000412505:R239C	ENSP00000355026:R239C	R	+	1	0	ARHGEF15	8157078	0.607000	0.26958	0.915000	0.36163	0.062000	0.15995	0.498000	0.22530	0.365000	0.24400	-0.367000	0.07326	CGT		0.706	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	147	0	0	0	1	0	10	147					T	8216353	C	T	8216353	3	4	148	1	0	0	0	0	1	0	0	0	898	652	23	1	721	1	ARHGEF15	17	8216353	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		8216353	72978857	9	2591											
UBQLN2	29978	broad.mit.edu	37	X	56592023	56592023	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:56592023C>T	ENST00000338222.5	+	1	1998	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	573					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCAAATGCTCCACAGCTGCC	0.517																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(1717-1719)Cca>Tca		Homo sapiens ubiquilin 2 (UBQLN2), mRNA.							55	46	49					X																	56592023		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56592023C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1717C>T	X.37:g.56592023C>T	ENSP00000345195:p.Pro573Ser		Somatic				UBQLN2_uc011moq.1_Missense_Mutation_p.P461S	p.P573S	NM_013444	NP_038472	WXS	Illumina GAIIx	Phase_I	Q9UHD9	UBQL2_HUMAN			0	1998	+			573					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1717C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	2.282	-0.364482	0.05103	.	.	ENSG00000188021	ENST00000338222	T	0.40756	1.02	4.55	4.55	0.56014	.	0.178579	0.38959	N	0.001516	T	0.23014	0.0556	N	0.16567	0.415	0.29762	N	0.835495	B;B	0.14805	0.004;0.011	B;B	0.09377	0.004;0.004	T	0.11542	-1.0583	10	0.06757	T	0.87	-5.567	11.6655	0.51370	0.0:1.0:0.0:0.0	.	461;573	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	S	573	ENSP00000345195:P573S	ENSP00000345195:P573S	P	+	1	0	UBQLN2	56608748	0.994000	0.37717	1.000000	0.80357	0.781000	0.44180	0.826000	0.27407	2.235000	0.73313	0.594000	0.82650	CCA		0.517	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		12	44	0	0	0	1	0	12	44					T	56592023	C	T	56592023	3	4	148	1	0	0	0	0	1	0	0	0	16894	855	30	2	1719	2	UBQLN2	23	56592023	Missense_Mutation	SNP	C	TCGA-E8-A415-01A-11D-A23M-08		56592023	98678537	10	2592											
RER1	11079	broad.mit.edu	37	1	2334476	2334476	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:2334476C>T	ENST00000605895.1	+	7	637	c.504C>T	c.(502-504)caC>caT	p.H168H	RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Silent_p.H168H|RER1_ENST00000378512.1_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	168				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CTCCCCAGCACATGATTAAGT	0.542																																						uc001aje.2																			0				endometrium(3)|kidney(1)	4						c.(502-504)caC>caT		Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA.							125	121	122					1																	2334476		2033	4192	6225	SO:0001819	synonymous_variant	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2334476C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.504C>T	1.37:g.2334476C>T			Somatic				RER1_uc001ajf.2_3'UTR	p.H168H	NM_007033	NP_008964	WXS	Illumina GAIIx	Phase_I	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	6	695	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	168	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Silent	SNP	ENST00000605895.1	37	c.504C>T	CCDS41232.1																																																																																				0.542	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			48	101	0	0	0	1	0	48	101					T	2334476	C	T	2334476	2	4	149	1	0	0	0	0	0	0	0	1	13230	477	17	2		2	RER1	1	2334476	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		2334476	246916145	1	2593											
PADI1	29943	broad.mit.edu	37	1	17559436	17559436	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:17559436C>T	ENST00000375471.4	+	11	1376	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000413717.2_5'Flank|PADI1_ENST00000537499.1_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	428					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCCCCTGGGCCGGATCCTCA	0.692																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1282-1284)ggC>ggT		Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	L-Citrulline(DB00155)						20	18	19					1																	17559436		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17559436C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1284C>T	1.37:g.17559436C>T			Somatic				PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	p.G428G	NM_013358	NP_037490	WXS	Illumina GAIIx	Phase_I	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	10	1376	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	428					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1284C>T	CCDS178.1																																																																																				0.692	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		18	18	0	0	0	1	0	18	18					T	17559436	C	T	17559436	2	4	149	1	0	0	0	0	0	0	0	1	11377	726	26	2		2	PADI1	1	17559436	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	15224960	17559436	231691185	2	2594											
DLEC1	9940	broad.mit.edu	37	3	38087109	38087109	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:38087109G>C	ENST00000308059.6	+	2	508	c.487G>C	c.(487-489)Gct>Cct	p.A163P	DLEC1_ENST00000346219.3_Missense_Mutation_p.A163P|DLEC1_ENST00000452631.2_Missense_Mutation_p.A163P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAAGCACGGGCTATTGCGGA	0.532																																						uc003chp.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(487-489)Gct>Cct		Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.							71	72	71					3																	38087109		1926	4133	6059	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38087109G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.487G>C	3.37:g.38087109G>C	ENSP00000308597:p.Ala163Pro		Somatic				DLEC1_uc003cho.1_Missense_Mutation_p.A163P|DLEC1_uc010hgv.1_Missense_Mutation_p.A163P	p.A163P	NM_007337	NP_031363	WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	1	508	+			163						Missense_Mutation	SNP	ENST00000308059.6	37	c.487G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331361	0.41297	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.10573	2.89;2.86;3.12	4.8	2.96	0.34315	.	0.406939	0.26788	N	0.022495	T	0.25494	0.0620	M	0.71036	2.16	0.32744	N	0.507318	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.988	T	0.24012	-1.0172	10	0.52906	T	0.07	-12.1907	5.3328	0.15942	0.1027:0.0:0.6958:0.2015	.	163;163;163	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	163	ENSP00000308597:A163P;ENSP00000315914:A163P;ENSP00000410427:A163P	ENSP00000308597:A163P	A	+	1	0	DLEC1	38062113	0.994000	0.37717	0.568000	0.28447	0.021000	0.10359	1.122000	0.31295	0.592000	0.29728	0.655000	0.94253	GCT		0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		53	52	0	0	0	1	0	53	52					C	38087109	G	C	38087109	3	2	149	1	0	0	0	0	1	0	0	0	4552	1203	42	4	493	4	DLEC1	3	38087109	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08		38087109	159935321	3	2595											
KTELC1	56983	broad.mit.edu	37	3	119210390	119210390	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:119210390A>G	ENST00000295588.4	+	10	1075	c.991A>G	c.(991-993)Aat>Gat	p.N331D		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	331					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGTAAAAGCAAATGATGATGT	0.348																																						uc003ecm.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(991-993)Aat>Gat		Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA.							187	177	181					3																	119210390		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119210390A>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.991A>G	3.37:g.119210390A>G	ENSP00000295588:p.Asn331Asp		Somatic				POGLUT1_uc011bja.2_Missense_Mutation_p.N172D	p.N331D	NM_152305	NP_689518	WXS	Illumina GAIIx	Phase_I	Q8NBL1	PGLT1_HUMAN			9	1075	+			331					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.991A>G	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586141	0.86851	.	.	ENSG00000163389	ENST00000295588	T	0.24538	1.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.82716	2.605	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	T	0.53767	-0.8392	10	0.42905	T	0.14	-27.2785	11.909	0.52729	1.0:0.0:0.0:0.0	.	331	Q8NBL1	PGLT1_HUMAN	D	331	ENSP00000295588:N331D	ENSP00000295588:N331D	N	+	1	0	POGLUT1	120693080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.304000	0.77564	0.528000	0.53228	AAT		0.348	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		11	22	0	0	0	1	0	11	22					G	119210390	A	G	119210390	3	3	149	1	0	0	0	0	1	0	0	0	8583	14	1	3	1029	3	KTELC1	3	119210390	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	81123281	119210390	78812040	4	2596											
EVC	2121	broad.mit.edu	37	4	5755545	5755545	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:5755545C>A	ENST00000264956.6	+	10	1533	c.1349C>A	c.(1348-1350)gCg>gAg	p.A450E	EVC_ENST00000382674.2_Missense_Mutation_p.A450E|EVC_ENST00000509451.1_Missense_Mutation_p.A450E	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	450					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)				CTGGTCACGGCGTCTCTGGCT	0.582																																						uc003gil.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1348-1350)gCg>gAg		Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.							104	102	102					4																	5755545		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755545C>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1349C>A	4.37:g.5755545C>A	ENSP00000264956:p.Ala450Glu		Somatic				EVC_uc003gim.1_Non-coding_Transcript	p.A450E	NM_153717	NP_714928	WXS	Illumina GAIIx	Phase_I	P57679	EVC_HUMAN			9	1533	+		Myeloproliferative disorder(84;0.117)	450						Missense_Mutation	SNP	ENST00000264956.6	37	c.1349C>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	1.736	-0.492957	0.04322	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.48836	0.8;0.8;0.87	5.04	1.06	0.20224	.	0.507102	0.19949	N	0.102479	T	0.31918	0.0812	L	0.60455	1.87	0.19575	N	0.999962	B	0.23735	0.09	B	0.21151	0.033	T	0.32534	-0.9903	10	0.02654	T	1	.	4.4668	0.11692	0.4162:0.4124:0.0:0.1715	.	450	P57679	EVC_HUMAN	E	450	ENSP00000264956:A450E;ENSP00000372120:A450E;ENSP00000426774:A450E	ENSP00000264956:A450E	A	+	2	0	EVC	5806446	0.030000	0.19436	0.004000	0.12327	0.327000	0.28475	0.658000	0.24979	0.159000	0.19401	-1.157000	0.01802	GCG		0.582	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			68	87	0	0	0	1	0	68	87					A	5755545	C	A	5755545	3	1	149	1	0	0	0	0	1	0	0	0	5285	768	27	4	1387	4	EVC	4	5755545	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		5755545	185398731	5	2597											
ADH1B	125	broad.mit.edu	37	4	100232046	100232046	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:100232046C>G	ENST00000305046.8	-	8	1046	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	ADH1B_ENST00000394887.3_Missense_Mutation_p.E287Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	327					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGGATACCTTCTTTACTCTTA	0.328																																						uc003hus.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(979-981)Gaa>Caa		Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						119	122	121					4																	100232046		2203	4299	6502	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232046C>G	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.979G>C	4.37:g.100232046C>G	ENSP00000306606:p.Glu327Gln		Somatic				ADH1B_uc003hut.4_Missense_Mutation_p.E287Q|ADH1B_uc011ceh.2_Missense_Mutation_p.E172Q|ADH1B_uc011cei.1_Missense_Mutation_p.E287Q	p.E327Q	NM_000668	NP_000659	WXS	Illumina GAIIx	Phase_I	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	7	1063	-			327					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.979G>C	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470595	0.26423	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.08984	3.03;3.03	3.66	3.66	0.41972	GroES-like (1);Alcohol dehydrogenase, C-terminal (1);	0.296273	0.34507	N	0.003903	T	0.13927	0.0337	N	0.17838	0.53	0.58432	D	0.999999	B;B;B	0.25772	0.005;0.006;0.134	B;B;P	0.47864	0.016;0.04;0.559	T	0.38802	-0.9644	10	0.54805	T	0.06	-8.8668	15.3228	0.74135	0.0:1.0:0.0:0.0	.	314;287;327	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	Q	327;287;314	ENSP00000306606:E327Q;ENSP00000378351:E287Q	ENSP00000306606:E327Q	E	-	1	0	ADH1B	100451069	1.000000	0.71417	0.604000	0.28916	0.046000	0.14306	5.193000	0.65120	1.722000	0.51474	0.561000	0.74099	GAA		0.328	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		74	117	0	0	0	1	0	74	117					G	100232046	C	G	100232046	3	3	149	1	0	0	0	0	1	0	0	0	308	922	32	4	156	4	ADH1B	4	100232046	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	94476501	100232046	90922230	6	2598											
HCN1	348980	broad.mit.edu	37	5	45262720	45262720	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:45262720C>T	ENST00000303230.4	-	8	2033	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	659					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R659L(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTCCTCATGCGGGAGGTCGG	0.567																																						uc003jok.3																			2	Substitution - Missense(2)	p.R659L(4)|p.R659S(1)|p.S658S(1)	lung(2)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1975-1977)cGc>cAc		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							171	165	167					5																	45262720		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262720C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1976G>A	5.37:g.45262720C>T	ENSP00000307342:p.Arg659His		Somatic					p.R659H	NM_021072	NP_066550	WXS	Illumina GAIIx	Phase_I	O60741	HCN1_HUMAN			7	2001	-			659						Missense_Mutation	SNP	ENST00000303230.4	37	c.1976G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.201204	0.01581	.	.	ENSG00000164588	ENST00000303230	T	0.75704	-0.96	5.52	4.65	0.58169	.	0.000000	0.52532	D	0.000078	T	0.63792	0.2541	L	0.44542	1.39	0.40974	D	0.98472	B	0.18968	0.032	B	0.12156	0.007	T	0.58165	-0.7684	10	0.08837	T	0.75	.	13.4624	0.61235	0.0:0.9252:0.0:0.0748	.	659	O60741	HCN1_HUMAN	H	659	ENSP00000307342:R659H	ENSP00000307342:R659H	R	-	2	0	HCN1	45298477	0.813000	0.29090	0.260000	0.24451	0.060000	0.15804	3.283000	0.51701	1.339000	0.45563	-0.140000	0.14226	CGC		0.567	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		62	67	0	0	0	1	0	62	67					T	45262720	C	T	45262720	3	4	149	1	0	0	0	0	1	0	0	0	6996	768	27	1	700	1	HCN1	5	45262720	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		45262720	135652540	7	2599											
PCSK1	5122	broad.mit.edu	37	5	95728775	95728775	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:95728775G>A	ENST00000311106.3	-	14	2429	c.2192C>T	c.(2191-2193)aCt>aTt	p.T731I	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.T684I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	731					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GTAAGGTTTAGTGTTATAAAA	0.398																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2191-2193)aCt>aTt		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						148	153	151					5																	95728775		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728775G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2192C>T	5.37:g.95728775G>A	ENSP00000308024:p.Thr731Ile		Somatic				PCSK1_uc010jbi.2_Missense_Mutation_p.T421I|PCSK1_uc021ybq.1_Missense_Mutation_p.T684I	p.T731I	NM_000439	NP_000430	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	13	2431	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	731					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.2192C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833999	0.50951	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.67171	-0.09;-0.25	6.03	5.14	0.70334	Prohormone convertase enzyme (1);	0.157985	0.64402	D	0.000016	T	0.58264	0.2110	L	0.29908	0.895	0.33613	D	0.603839	B;B	0.10296	0.003;0.0	B;B	0.12837	0.008;0.005	T	0.65005	-0.6273	10	0.72032	D	0.01	-9.368	16.8498	0.85991	0.0:0.1286:0.8714:0.0	.	684;731	E9PHA1;P29120	.;NEC1_HUMAN	I	731;684	ENSP00000308024:T731I;ENSP00000421600:T684I	ENSP00000308024:T731I	T	-	2	0	PCSK1	95754531	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	3.123000	0.50453	1.518000	0.48934	0.655000	0.94253	ACT		0.398	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		25	292	0	0	0	1	0	25	292					A	95728775	G	A	95728775	3	1	149	1	0	0	0	0	1	0	0	0	11600	1029	36	2	73	2	PCSK1	5	95728775	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08	50466055	95728775	85186485	8	2600											
KIAA0240	23506	broad.mit.edu	37	6	42830261	42830261	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr6:42830261C>G	ENST00000314073.5	+	12	2539	c.2363C>G	c.(2362-2364)tCt>tGt	p.S788C	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S788C			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	788																	ATCAATCCCTCTGCTGAGATG	0.403																																						uc003osn.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44						c.(2362-2364)tCt>tGt		Homo sapiens KIAA0240 (KIAA0240), mRNA.							168	167	167					6																	42830261		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42830261C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2363C>G	6.37:g.42830261C>G	ENSP00000313933:p.Ser788Cys		Somatic				KIAA0240_uc011duw.1_Missense_Mutation_p.S788C|KIAA0240_uc003osp.1_Missense_Mutation_p.S788C	p.S788C	NM_015349	NP_056164	WXS	Illumina GAIIx	Phase_I	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		11	2514	+	Colorectal(47;0.196)		788					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2363C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126115	0.77549	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.64260	-0.09;-0.09	5.27	5.27	0.74061	.	0.182364	0.39615	N	0.001302	T	0.73590	0.3606	M	0.73962	2.25	0.48571	D	0.999677	P	0.51933	0.949	P	0.59948	0.866	T	0.77242	-0.2660	10	0.87932	D	0	-5.4751	18.96	0.92674	0.0:1.0:0.0:0.0	.	788	Q6AI39	K0240_HUMAN	C	788	ENSP00000313933:S788C;ENSP00000377723:S788C	ENSP00000313933:S788C	S	+	2	0	KIAA0240	42938239	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.011000	0.76359	2.456000	0.83038	0.449000	0.29647	TCT		0.403	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		12	257	0	0	0	1	0	12	257					G	42830261	C	G	42830261	3	3	149	1	0	0	0	0	1	0	0	0	8164	913	32	4	2401	4	KIAA0240	6	42830261	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		42830261	128284806	9	2601											
SLC13A1	6561	broad.mit.edu	37	7	122821049	122821049	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:122821049A>T	ENST00000194130.2	-	2	245	c.206T>A	c.(205-207)tTt>tAt	p.F69Y	SLC13A1_ENST00000539873.1_Missense_Mutation_p.F5Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	69					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)	CATGATCCCAAACATGGGTAA	0.398																																						uc003vkm.3																			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.(205-207)tTt>tAt		Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	Succinic acid(DB00139)						117	103	108					7																	122821049		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122821049A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.206T>A	7.37:g.122821049A>T	ENSP00000194130:p.Phe69Tyr		Somatic				SLC13A1_uc010lks.3_5'UTR	p.F69Y	NM_022444	NP_071889	WXS	Illumina GAIIx	Phase_I	Q9BZW2	S13A1_HUMAN			1	231	-			69					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.206T>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267741	0.59540	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.26957	4.15;1.7	6.16	5.0	0.66597	.	0.091920	0.85682	N	0.000000	T	0.38427	0.1040	M	0.87900	2.915	0.48696	D	0.999694	B	0.31241	0.315	B	0.35312	0.2	T	0.29150	-1.0021	10	0.54805	T	0.06	.	12.1431	0.54008	0.8717:0.0:0.0:0.1283	.	69	Q9BZW2	S13A1_HUMAN	Y	69;5	ENSP00000194130:F69Y;ENSP00000441309:F5Y	ENSP00000194130:F69Y	F	-	2	0	SLC13A1	122608285	1.000000	0.71417	0.925000	0.36789	0.795000	0.44927	6.893000	0.75649	1.117000	0.41842	0.528000	0.53228	TTT		0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		33	32	0	0	0	1	0	33	32					T	122821049	A	T	122821049	3	4	149	1	0	0	0	0	1	0	0	0	14391	14	1	5	1637	5	SLC13A1	7	122821049	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		122821049	36317614	10	2602											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	61	0	0	0	1	0	46	61					T	140453136	A	T	140453136	3	4	149	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	17632087	140453136	18685527	11	2603											
INTS10	55174	broad.mit.edu	37	8	19677984	19677984	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:19677984G>T	ENST00000397977.3	+	4	794	c.396G>T	c.(394-396)ttG>ttT	p.L132F	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	132	Poly-Leu.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGAAATGTTGCTTCTACTTT	0.423																																						uc022asn.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(394-396)ttG>ttT		Homo sapiens integrator complex subunit 10 (INTS10), mRNA.							131	124	126					8																	19677984		1919	4125	6044	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19677984G>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.396G>T	8.37:g.19677984G>T	ENSP00000381064:p.Leu132Phe		Somatic				INTS10_uc003wzj.3_Missense_Mutation_p.L132F	p.L132F	NM_018142	NP_060612	WXS	Illumina GAIIx	Phase_I	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	3	527	+			132			Poly-Leu.		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.396G>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268806	0.80469	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.55481	1.735	0.50467	D	0.999874	D	0.76494	0.999	D	0.83275	0.996	T	0.67421	-0.5675	9	0.66056	D	0.02	-17.9758	9.2686	0.37657	0.1559:0.1261:0.718:0.0	.	132	Q9NVR2	INT10_HUMAN	F	132	.	ENSP00000381064:L132F	L	+	3	2	INTS10	19722264	1.000000	0.71417	0.871000	0.34182	0.929000	0.56500	1.257000	0.32932	0.794000	0.33899	0.655000	0.94253	TTG		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		39	78	0	0	0	1	0	39	78					T	19677984	G	T	19677984	3	4	149	1	0	0	0	0	1	0	0	0	7776	1310	46	4	410	4	INTS10	8	19677984	Missense_Mutation	SNP	G	TCGA-E8-A418-01A-11D-A23M-08		19677984	126686038	12	2604											
WISP1	8840	broad.mit.edu	37	8	134232918	134232918	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:134232918C>T	ENST00000250160.6	+	3	550	c.444C>T	c.(442-444)gaC>gaT	p.D148D	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	148	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)		p.D148E(1)		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)			CGTGCATCGACGGCGCGGTGG	0.667																																						uc003yub.3																			1	Substitution - Missense(1)	p.D148E(2)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(442-444)gaC>gaT		Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.							98	82	87					8																	134232918		2203	4300	6503	SO:0001819	synonymous_variant	8840				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232918C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.444C>T	8.37:g.134232918C>T			Somatic				WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	p.D148D	NM_003882	NP_003873	WXS	Illumina GAIIx	Phase_I	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	550	+	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)		148			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.444C>T	CCDS6371.1																																																																																				0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		64	122	0	0	0	1	0	64	122					T	134232918	C	T	134232918	2	4	149	1	0	0	0	0	0	0	0	1	17369	535	19	1		1	WISP1	8	134232918	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	114554934	134232918	12131104	13	2605											
FAM122A	116224	broad.mit.edu	37	9	71395286	71395286	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr9:71395286A>G	ENST00000394264.3	+	1	323	c.206A>G	c.(205-207)cAc>cGc	p.H69R	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	69										endometrium(1)|lung(2)	3						CCGAGCCGCCACGGCCTGCTG	0.657																																						uc004agw.1																			0				endometrium(1)|lung(2)	3						c.(205-207)cAc>cGc		Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.							36	42	40					9																	71395286		2203	4290	6493	SO:0001583	missense	116224							g.chr9:71395286A>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.206A>G	9.37:g.71395286A>G	ENSP00000377807:p.His69Arg		Somatic				PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	p.H69R	NM_138333	NP_612206	WXS	Illumina GAIIx	Phase_I	Q96E09	F122A_HUMAN			0	323	+			69						Missense_Mutation	SNP	ENST00000394264.3	37	c.206A>G	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645583	0.29246	.	.	ENSG00000187866	ENST00000394264	T	0.56275	0.47	4.2	3.04	0.35103	.	0.106321	0.64402	D	0.000003	T	0.44286	0.1286	M	0.64170	1.965	0.33247	D	0.558009	B	0.28636	0.218	B	0.22386	0.039	T	0.53387	-0.8446	10	0.37606	T	0.19	-18.1578	7.8573	0.29489	0.7892:0.2108:0.0:0.0	.	69	Q96E09	F122A_HUMAN	R	69	ENSP00000377807:H69R	ENSP00000377807:H69R	H	+	2	0	FAM122A	70585106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.391000	0.44424	0.929000	0.37192	0.460000	0.39030	CAC		0.657	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		58	100	0	0	0	1	0	58	100					G	71395286	A	G	71395286	3	3	149	1	0	0	0	0	1	0	0	0	5419	159	6	3	208	3	FAM122A	9	71395286	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		71395286	69818145	14	2606											
MUC6	4588	broad.mit.edu	37	11	1029335	1029335	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:1029335C>G	ENST00000421673.2	-	10	1218	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	390					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGGCCGCTCCGTGCACACC	0.687																																						uc001lsw.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1168-1170)Gag>Cag		Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.							13	15	14					11																	1029335		2050	4166	6216	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029335C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1168G>C	11.37:g.1029335C>G	ENSP00000406861:p.Glu390Gln		Somatic					p.E390Q	NM_005961	NP_005952	WXS	Illumina GAIIx	Phase_I	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1219	-		all_cancers(49;3.3e-08)|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;0.229)	390					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1168G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030251	0.35797	.	.	ENSG00000184956	ENST00000421673	T	0.65178	-0.14	4.56	2.58	0.30949	von Willebrand factor, type D domain (1);	0.000000	0.31177	U	0.008110	T	0.45276	0.1334	L	0.37697	1.125	0.09310	N	1	B	0.31485	0.325	B	0.28385	0.089	T	0.30937	-0.9961	10	0.41790	T	0.15	.	5.9115	0.19031	0.0:0.6682:0.1582:0.1735	.	390	Q6W4X9	MUC6_HUMAN	Q	390	ENSP00000406861:E390Q	ENSP00000406861:E390Q	E	-	1	0	MUC6	1019335	0.979000	0.34478	0.006000	0.13384	0.034000	0.12701	3.909000	0.56363	0.426000	0.26116	0.313000	0.20887	GAG		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	21	0	0	0	1	0	9	21					G	1029335	C	G	1029335	3	3	149	1	0	0	0	0	1	0	0	0	9980	864	30	4	6247	4	MUC6	11	1029335	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		1029335	133977181	15	2607											
PDHX	8050	broad.mit.edu	37	11	34938261	34938261	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:34938261T>G	ENST00000227868.4	+	1	143	c.59T>G	c.(58-60)tTc>tGc	p.F20C	APIP_ENST00000527830.1_5'Flank|PDHX_ENST00000430469.2_Missense_Mutation_p.F20C|PDHX_ENST00000448838.3_Intron|APIP_ENST00000395787.3_5'Flank|APIP_ENST00000278359.5_5'Flank			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	20					cellular metabolic process (GO:0044237)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTTGTGGGCTTCCCCGGCCGC	0.642																																						uc001mvt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16						c.(58-60)tTc>tGc		Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							33	38	36					11																	34938261		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34938261T>G	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.59T>G	11.37:g.34938261T>G	ENSP00000227868:p.Phe20Cys		Somatic				PDHX_uc010rep.2_Intron|PDHX_uc010req.2_Missense_Mutation_p.F20C|APIP_uc010reo.1_5'Flank|APIP_uc001mvs.2_5'Flank	p.F20C	NM_003477	NP_003468	WXS	Illumina GAIIx	Phase_I	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		0	585	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	20					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.59T>G	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983793	0.53827	.	.	ENSG00000110435	ENST00000227868;ENST00000430469;ENST00000533262	T;T;T	0.38722	1.94;1.12;1.82	5.26	2.91	0.33838	.	0.398394	0.25503	N	0.030234	T	0.27454	0.0674	.	.	.	0.09310	N	1	P;P	0.51653	0.876;0.947	B;B	0.40101	0.319;0.319	T	0.12811	-1.0533	9	0.41790	T	0.15	-1.8589	5.7665	0.18229	0.0:0.2142:0.0:0.7858	.	20;20	E9PBP7;O00330	.;ODPX_HUMAN	C	20	ENSP00000227868:F20C;ENSP00000415695:F20C;ENSP00000432277:F20C	ENSP00000227868:F20C	F	+	2	0	PDHX	34894837	0.772000	0.28567	0.002000	0.10522	0.008000	0.06430	1.217000	0.32455	1.012000	0.39366	0.459000	0.35465	TTC		0.642	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		22	31	0	0	0	1	0	22	31					G	34938261	T	G	34938261	3	3	149	1	0	0	0	0	1	0	0	0	11667	1783	62	5	180	5	PDHX	11	34938261	Missense_Mutation	SNP	T	TCGA-E8-A418-01A-11D-A23M-08	33908926	34938261	100068255	16	2608											
SAPS3	55291	broad.mit.edu	37	11	68369335	68369335	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68369335A>G	ENST00000393800.2	+	21	2451	c.2197A>G	c.(2197-2199)Aaa>Gaa	p.K733E	PPP6R3_ENST00000524904.1_Missense_Mutation_p.K727E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K698E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K653E|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K501E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K653E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K704E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K687E|PPP6R3_ENST00000393799.2_Missense_Mutation_p.K733E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K733E	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	733					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAAAGCACAAAAGATTCTTT	0.443																																						uc001onv.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2197-2199)Aaa>Gaa		Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.							89	98	95					11																	68369335		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68369335A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2197A>G	11.37:g.68369335A>G	ENSP00000377389:p.Lys733Glu		Somatic				PPP6R3_uc001onw.3_Missense_Mutation_p.K733E|PPP6R3_uc001ony.4_Missense_Mutation_p.K704E|PPP6R3_uc001onx.3_Missense_Mutation_p.K727E|PPP6R3_uc009ysh.3_Missense_Mutation_p.K653E|PPP6R3_uc001onu.3_Missense_Mutation_p.K653E|PPP6R3_uc010rqc.2_Missense_Mutation_p.K501E|PPP6R3_uc010rqd.2_Missense_Mutation_p.K416E|PPP6R3_uc001onz.3_Missense_Mutation_p.K61E|PPP6R3_uc001ooa.3_Missense_Mutation_p.K183E	p.K733E	NM_001164160	NP_001157632	WXS	Illumina GAIIx	Phase_I	Q5H9R7	PP6R3_HUMAN			20	2464	+			733					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2197A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.751073	0.15778	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.91	4.91	0.64330	.	0.045988	0.85682	D	0.000000	T	0.41558	0.1164	N	0.19112	0.55	0.47862	D	0.999539	P;B;B;B;B;B;P;B	0.39920	0.653;0.247;0.001;0.001;0.001;0.001;0.695;0.001	B;B;B;B;B;B;P;B	0.46275	0.233;0.125;0.007;0.007;0.006;0.003;0.51;0.01	T	0.28996	-1.0026	10	0.02654	T	1	.	14.7382	0.69434	1.0:0.0:0.0:0.0	.	416;501;653;704;727;733;733;653	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	E	733;733;501;704;687;727;733;653;653;698;440	ENSP00000377388:K733E;ENSP00000377389:K733E;ENSP00000434429:K501E;ENSP00000431415:K704E;ENSP00000265637:K687E;ENSP00000433058:K727E;ENSP00000377390:K733E;ENSP00000265636:K653E;ENSP00000437329:K653E;ENSP00000433565:K698E;ENSP00000436209:K440E	ENSP00000265636:K653E	K	+	1	0	PPP6R3	68125911	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.157000	0.89647	2.069000	0.61940	0.482000	0.46254	AAA		0.443	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		73	110	0	0	0	1	0	73	110					G	68369335	A	G	68369335	3	3	149	1	0	0	0	0	1	0	0	0	13838	15	1	3	2271	3	SAPS3	11	68369335	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08	33431074	68369335	66637181	17	2609											
CPT1A	1374	broad.mit.edu	37	11	68582878	68582878	+	Missense_Mutation	SNP	C	C	T	rs141658962		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68582878C>T	ENST00000265641.5	-	2	219	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CPT1A_ENST00000539743.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000376618.2_Missense_Mutation_p.R22Q|CPT1A_ENST00000540367.1_Missense_Mutation_p.R22Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	22					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	ATGGCTCAGCCGCAGGTCAAT	0.458																																						uc001oog.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(64-66)cGg>cAg		Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)	C	GLN/ARG,GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	79	72	75		65,65	-1.1	0.2	11	dbSNP_134	75	0,8588		0,0,4294	no	missense,missense	CPT1A	NM_001031847.2,NM_001876.3	43,43	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	22/757,22/774	68582878	2,12986	2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68582878C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.65G>A	11.37:g.68582878C>T	ENSP00000265641:p.Arg22Gln		Somatic				CPT1A_uc001oof.4_Missense_Mutation_p.R22Q	p.R22Q	NM_001876	NP_001867	WXS	Illumina GAIIx	Phase_I	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		1	235	-	Esophageal squamous(3;3.28e-14)		22					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.65G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	2.673	-0.277040	0.05679	4.55E-4	0.0	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.84146	-1.81;-1.81;-1.77;-1.77	4.6	-1.12	0.09808	.	0.750134	0.13092	N	0.414478	T	0.67002	0.2847	N	0.05467	-0.045	0.29698	N	0.840374	B;B;B	0.16166	0.004;0.015;0.016	B;B;B	0.14023	0.001;0.003;0.01	T	0.52351	-0.8587	10	0.17832	T	0.49	.	10.7631	0.46277	0.0:0.8872:0.0:0.1128	.	22;22;22	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	Q	22	ENSP00000439084:R22Q;ENSP00000365803:R22Q;ENSP00000265641:R22Q;ENSP00000446108:R22Q	ENSP00000265641:R22Q	R	-	2	0	CPT1A	68339454	0.428000	0.25522	0.185000	0.23176	0.508000	0.34012	0.962000	0.29280	-0.587000	0.05890	-0.339000	0.08088	CGG		0.458	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		16	80	0	0	0	1	0	16	80					T	68582878	C	T	68582878	3	4	149	1	0	0	0	0	1	0	0	0	3831	652	23	1	2368	1	CPT1A	11	68582878	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	213543	68582878	66423638	18	2610											
KIAA1826	84437	broad.mit.edu	37	11	105880518	105880518	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:105880518C>T	ENST00000301919.4	-	3	2197	c.782G>A	c.(781-783)aGa>aAa	p.R261K	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	261						nucleus (GO:0005634)											CAACTTTTCTCTTTCAATCTG	0.443																																						uc001piy.3																			0											c.(781-783)aGa>aAa		Homo sapiens KIAA1826 (KIAA1826), mRNA.							102	97	99					11																	105880518		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880518C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.782G>A	11.37:g.105880518C>T	ENSP00000304713:p.Arg261Lys		Somatic				MSANTD4_uc001piz.3_Missense_Mutation_p.R261K	p.R261K	NM_032424	NP_115800	WXS	Illumina GAIIx	Phase_I	Q8NCY6	K1826_HUMAN			2	955	-			261					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.782G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075580	0.36662	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.29908	0.895	0.43608	D	0.995977	B	0.31054	0.306	B	0.31547	0.132	T	0.39187	-0.9626	9	0.26408	T	0.33	-22.493	19.684	0.95974	0.0:1.0:0.0:0.0	.	261	Q8NCY6	K1826_HUMAN	K	261	.	ENSP00000304713:R261K	R	-	2	0	KIAA1826	105385728	0.733000	0.28132	0.126000	0.21872	0.392000	0.30506	6.838000	0.75359	2.654000	0.90174	0.491000	0.48974	AGA		0.443	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		69	107	0	0	0	1	0	69	107					T	105880518	C	T	105880518	3	4	149	1	0	0	0	0	1	0	0	0	8260	913	32	2	259	2	KIAA1826	11	105880518	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	37297640	105880518	29125998	19	2611											
MLL	4297	broad.mit.edu	37	11	118377159	118377160	+	Missense_Mutation	DNP	TC	TC	GT			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:118377159_118377160TC>GT	ENST00000389506.5	+	27	10543_10544	c.10543_10544TC>GT	c.(10543-10545)TCt>GTt	p.S3515V	KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477V|KMT2A_ENST00000534358.1_Missense_Mutation_p.S3518V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3515					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGGGGGTTCTCCATCCTCT	0.55																																						uc001ptb.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(10552-10554)tct>GTt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.																																				SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118377159_118377160TC>GT	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	Exception_encountered	11.37:g.118377159_118377160delinsGT	ENSP00000374157:p.Ser3515Val		Somatic				MLL_uc001pta.3_Missense_Mutation_p.S3515V	p.S3518V	NM_001197104	NP_001184033	WXS	Illumina GAIIx	Phase_I	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	10575_10576	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3515					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	DNP	ENST00000389506.5	37	c.10552_10553TC>GT	CCDS31686.1																																																																																				0.55	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		58	79	0	0	0	1	0	58	79					GT	118377160	TC	GT	118377159	3	3	149	1	0	0	0	0	1	0	0	0	9620	1783	62	5	10649	5	MLL	11	118377159	Missense_Mutation	DNP	TC	TCGA-E8-A418-01A-11D-A23M-08	12496641	118377159	16629357	20	2612											
PTPRR	5801	broad.mit.edu	37	12	71056321	71056321	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:71056321C>T	ENST00000283228.2	-	11	2014	c.1562G>A	c.(1561-1563)aGt>aAt	p.S521N	PTPRR_ENST00000342084.4_Missense_Mutation_p.S409N|PTPRR_ENST00000440835.2_Missense_Mutation_p.S276N|PTPRR_ENST00000549308.1_Missense_Mutation_p.S276N|PTPRR_ENST00000378778.1_Missense_Mutation_p.S315N|PTPRR_ENST00000537619.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	521	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTCATTTACACTGATAACCAG	0.363																																						uc001swi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1561-1563)aGt>aAt		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.							132	115	121					12																	71056321		2203	4299	6502	SO:0001583	missense	5801				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71056321C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1562G>A	12.37:g.71056321C>T	ENSP00000283228:p.Ser521Asn		Somatic				PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.S276N|PTPRR_uc009zrs.3_Missense_Mutation_p.S315N|PTPRR_uc010stq.2_Missense_Mutation_p.S409N|PTPRR_uc010str.1_Missense_Mutation_p.S370N	p.S521N	NM_002849	NP_570897	WXS	Illumina GAIIx	Phase_I	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	10	1976	-			521			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1562G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073528	0.36566	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.67	-0.584	0.11702	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.458783	0.20224	N	0.096629	T	0.23133	0.0559	L	0.43554	1.36	0.28648	N	0.906821	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.24905	-1.0147	10	0.19147	T	0.46	-2.3077	13.4684	0.61268	0.0:0.8486:0.0:0.1514	.	370;409;315;521	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	276;521;315;409;276	ENSP00000391750:S276N;ENSP00000283228:S521N;ENSP00000368054:S315N;ENSP00000339605:S409N;ENSP00000446943:S276N	ENSP00000283228:S521N	S	-	2	0	PTPRR	69342588	0.396000	0.25262	0.962000	0.40283	0.991000	0.79684	0.116000	0.15561	-0.311000	0.08754	0.655000	0.94253	AGT		0.363	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		23	39	0	0	0	1	0	23	39					T	71056321	C	T	71056321	3	4	149	1	0	0	0	0	1	0	0	0	12810	565	20	2	427	2	PTPRR	12	71056321	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		71056321	62795574	21	2613											
GAS2L3	283431	broad.mit.edu	37	12	101017896	101017896	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:101017896C>T	ENST00000539410.1	+	9	1699	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	GAS2L3_ENST00000266754.5_Missense_Mutation_p.S438F|GAS2L3_ENST00000537247.1_Missense_Mutation_p.S334F|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S438F			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	438					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTATTTCATCCCCCAATACC	0.433																																						uc001thu.3																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1312-1314)tCc>tTc		Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.							91	93	93					12																	101017896		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017896C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1313C>T	12.37:g.101017896C>T	ENSP00000439672:p.Ser438Phe		Somatic				GAS2L3_uc009zty.3_Missense_Mutation_p.S438F|GAS2L3_uc001thv.3_Missense_Mutation_p.S334F	p.S438F	NM_174942	NP_777602	WXS	Illumina GAIIx	Phase_I	Q86XJ1	GA2L3_HUMAN			9	1539	+			438					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1313C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618162	0.46736	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26223	1.77;1.77;1.75;1.77	5.84	4.73	0.59995	.	0.273190	0.30177	N	0.010225	T	0.22282	0.0537	L	0.39633	1.23	0.20403	N	0.999905	B	0.20887	0.049	B	0.19666	0.026	T	0.13308	-1.0514	10	0.37606	T	0.19	-6.4392	12.2631	0.54661	0.0:0.8971:0.0:0.1029	.	438	Q86XJ1	GA2L3_HUMAN	F	438;438;334;438	ENSP00000266754:S438F;ENSP00000448955:S438F;ENSP00000442406:S334F;ENSP00000439672:S438F	ENSP00000266754:S438F	S	+	2	0	GAS2L3	99542027	0.111000	0.22076	0.025000	0.17156	0.450000	0.32258	2.701000	0.47094	1.128000	0.42052	0.650000	0.86243	TCC		0.433	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		9	207	0	0	0	1	0	9	207					T	101017896	C	T	101017896	3	4	149	1	0	0	0	0	1	0	0	0	6248	855	30	2	1343	2	GAS2L3	12	101017896	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	29961575	101017896	32833999	22	2614											
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"																																	uc001ypk.3	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"breast, colorectal, ovarian, NSCLC"		102	Substitution - Missense(102)	p.E17K(255)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130	93	106					14																	105246551		2203	4300	6503	SO:0001583	missense	207				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys		Somatic				AKT1_uc001ypl.3_Missense_Mutation_p.E17K|AKT1_uc010axa.3_Missense_Mutation_p.E17K|AKT1_uc001ypm.3_Missense_Mutation_p.E17K|AKT1_uc001ypn.3_Missense_Mutation_p.E17K|AKT1_uc010tyk.2_5'Flank	p.E17K	NM_005163	NP_005154	WXS	Illumina GAIIx	Phase_I	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	603	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		17	33	0	0	0	1	0	17	33					T	105246551	C	T	105246551	3	4	149	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		105246551	2102989	23	2615											
C15orf55	256646	broad.mit.edu	37	15	34649404	34649404	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:34649404C>T	ENST00000333756.4	+	7	3266	c.3111C>T	c.(3109-3111)ctC>ctT	p.L1037L	NUTM1_ENST00000438749.3_Silent_p.L1055L|NUTM1_ENST00000537011.1_Silent_p.L1065L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1037						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCATCCCCTCAGTCCTCACC	0.532																																						uc010ucc.2										T					"BRD3, BRD4"		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				large_intestine(2)|ovary(3)|skin(2)	7						c.(3193-3195)ctC>ctT		Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.							81	68	72					15																	34649404		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34649404C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3111C>T	15.37:g.34649404C>T			Somatic				C15orf55_uc010ucd.2_Silent_p.L1055L|C15orf55_uc001zif.3_Silent_p.L1037L	p.L1065L	NM_175741	NP_786883	WXS	Illumina GAIIx	Phase_I	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3577	+		all_lung(180;2.78e-08)	1037					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3195C>T	CCDS32190.1																																																																																				0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		48	64	0	0	0	1	0	48	64					T	34649404	C	T	34649404	2	4	149	1	0	0	0	0	0	0	0	1	1803	813	29	2		2	C15orf55	15	34649404	Silent	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		34649404	67881988	24	2616											
CHD2	1106	broad.mit.edu	37	15	93567883	93567883	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:93567883C>T	ENST00000394196.4	+	39	6503	c.5435C>T	c.(5434-5436)tCa>tTa	p.S1812L		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1812					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGGAGAGATCACTAGAACAG	0.463																																						uc002bsp.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5434-5436)tCa>tTa		Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.							75	72	73					15																	93567883		1862	4107	5969	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567883C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5435C>T	15.37:g.93567883C>T	ENSP00000377747:p.Ser1812Leu		Somatic					p.S1812L	NM_001271	NP_001262	WXS	Illumina GAIIx	Phase_I	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		38	6010	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1812					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5435C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318462	0.81469	.	.	ENSG00000173575	ENST00000394196	D	0.92099	-2.97	5.69	5.69	0.88448	.	.	.	.	.	D	0.85779	0.5776	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.24974	0.057	D	0.86812	0.1999	9	0.66056	D	0.02	-6.177	20.181	0.98201	0.0:1.0:0.0:0.0	.	1812	O14647	CHD2_HUMAN	L	1812	ENSP00000377747:S1812L	ENSP00000377747:S1812L	S	+	2	0	CHD2	91368887	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	7.017000	0.76399	2.840000	0.97914	0.655000	0.94253	TCA		0.463	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		6	105	0	0	0	1	0	6	105					T	93567883	C	T	93567883	3	4	149	1	0	0	0	0	1	0	0	0	3325	838	29	2	5589	2	CHD2	15	93567883	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	58918479	93567883	8963509	25	2617											
DNAJA2	10294	broad.mit.edu	37	16	46998681	46998681	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:46998681C>T	ENST00000317089.5	-	6	831	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	206					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCTTCCCTTCACATTTTTTA	0.383																																						uc002eeo.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(616-618)Gaa>Aaa		Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.							172	158	163					16																	46998681		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46998681C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.616G>A	16.37:g.46998681C>T	ENSP00000314030:p.Glu206Lys		Somatic					p.E206K	NM_005880	NP_005871	WXS	Illumina GAIIx	Phase_I	O60884	DNJA2_HUMAN			5	758	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	206					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.616G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823601	0.50739	.	.	ENSG00000069345	ENST00000317089	T	0.35789	1.29	6.17	6.17	0.99709	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.045861	0.85682	D	0.000000	T	0.15392	0.0371	N	0.01250	-0.93	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31696	-0.9934	10	0.02654	T	1	-21.4236	20.8794	0.99867	0.0:1.0:0.0:0.0	.	206	O60884	DNJA2_HUMAN	K	206	ENSP00000314030:E206K	ENSP00000314030:E206K	E	-	1	0	DNAJA2	45556182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.526000	0.81920	2.941000	0.99782	0.655000	0.94253	GAA		0.383	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			48	78	0	0	0	1	0	48	78					T	46998681	C	T	46998681	3	4	149	1	0	0	0	0	1	0	0	0	4612	835	29	2	638	2	DNAJA2	16	46998681	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		46998681	43356072	26	2618											
PPM1D	8493	broad.mit.edu	37	17	58740540	58740544	+	Frame_Shift_Del	DEL	TGACT	TGACT	-			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr17:58740540_58740544delTGACT	ENST00000305921.3	+	6	1677_1681	c.1445_1449delTGACT	c.(1444-1449)ctgactfs	p.LT482fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	482					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GCTAAAGCCCTGACTTTAAGGATAC	0.385											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			0		p.A481V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1444-1449)ctgactfs		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740540_58740544delTGACT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1445_1449delTGACT	17.37:g.58740540_58740544delTGACT	ENSP00000306682:p.Leu482fs		Somatic	OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.L482fs	NM_003620	NP_003611	WXS	Illumina GAIIx	Phase_I	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1677_1681	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1445_1449delTGACT	CCDS11625.1																																																																																				0.385	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		31	102						31	102	---	---	---	---	-	58740544	TGACT	-	58740540	7	5	149	1	0	1	0	1	0	0	0	0	12337	1580	55	0	1467	0	PPM1D	17	58740540	Frame_Shift_Del	DEL	TGACT	TCGA-E8-A418-01A-11D-A23M-08		58740540	22454670	27	2619											
RTTN	25914	broad.mit.edu	37	18	67673627	67673627	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr18:67673627T>C	ENST00000255674.6	-	47	6801	c.6515A>G	c.(6514-6516)aAt>aGt	p.N2172S	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2172					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)				CTTCTGATAATTGTAAATCAG	0.398																																						uc002lkp.2																			0				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						c.(6514-6516)aAt>aGt		Homo sapiens rotatin (RTTN), mRNA.							72	67	69					18																	67673627		1813	4081	5894	SO:0001583	missense	25914						binding	g.chr18:67673627T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6515A>G	18.37:g.67673627T>C	ENSP00000255674:p.Asn2172Ser		Somatic				RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.N1260S|RTTN_uc002lkn.2_Missense_Mutation_p.N162S|RTTN_uc010dqp.2_Missense_Mutation_p.N424S	p.N2172S	NM_173630	NP_775901	WXS	Illumina GAIIx	Phase_I	Q86VV8	RTTN_HUMAN			46	6583	-		Esophageal squamous(42;0.129)	2172					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6515A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624700	0.66901	.	.	ENSG00000176225	ENST00000255674	T	0.49139	0.79	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.131349	0.48767	D	0.000180	T	0.59074	0.2167	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61676	-0.7014	10	0.72032	D	0.01	.	9.4125	0.38500	0.0:0.0812:0.0:0.9188	.	2172	Q86VV8	RTTN_HUMAN	S	2172	ENSP00000255674:N2172S	ENSP00000255674:N2172S	N	-	2	0	RTTN	65824607	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	3.167000	0.50793	2.053000	0.61076	0.477000	0.44152	AAT		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		48	48	0	0	0	1	0	48	48					C	67673627	T	C	67673627	3	2	149	1	0	0	0	0	1	0	0	0	13737	1493	52	3	177	3	RTTN	18	67673627	Missense_Mutation	SNP	T	TCGA-E8-A418-01A-11D-A23M-08		67673627	10403621	28	2620											
DNMT1	1786	broad.mit.edu	37	19	10262175	10262175	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:10262175C>T	ENST00000340748.4	-	23	2351	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D706N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D722N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	706	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ATGTTATCATCGACTTCCTCA	0.488																																						uc010xlc.2																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2164-2166)Gat>Aat		Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA.	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						249	208	222					19																	10262175		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262175C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2116G>A	19.37:g.10262175C>T	ENSP00000345739:p.Asp706Asn		Somatic				DNMT1_uc002mng.3_Missense_Mutation_p.D706N|DNMT1_uc002mnh.3_Missense_Mutation_p.D601N|DNMT1_uc010xld.2_Missense_Mutation_p.D706N	p.D722N	NM_001130823	NP_001124295	WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2344	-			706					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2164G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228213	0.79576	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.27402	1.81;1.67;1.67	5.75	5.75	0.90469	.	0.151185	0.64402	D	0.000018	T	0.39410	0.1077	L	0.59436	1.845	0.80722	D	1	P;P;P	0.48230	0.907;0.703;0.85	P;B;B	0.46299	0.511;0.202;0.313	T	0.05632	-1.0873	10	0.31617	T	0.26	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	706;722;706	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	722;706;706;574	ENSP00000352516:D722N;ENSP00000440457:D706N;ENSP00000345739:D706N	ENSP00000345739:D706N	D	-	1	0	DNMT1	10123175	1.000000	0.71417	0.386000	0.26170	0.987000	0.75469	7.568000	0.82369	2.713000	0.92767	0.655000	0.94253	GAT		0.488	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		27	248	0	0	0	1	0	27	248					T	10262175	C	T	10262175	3	4	149	1	0	0	0	0	1	0	0	0	4675	884	31	1	2806	1	DNMT1	19	10262175	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		10262175	48866808	29	2621											
RYR1	6261	broad.mit.edu	37	19	38976630	38976630	+	Missense_Mutation	SNP	C	C	G	rs377041724		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:38976630C>G	ENST00000359596.3	+	34	5335	c.5335C>G	c.(5335-5337)Ccc>Gcc	p.P1779A	RYR1_ENST00000360985.3_Missense_Mutation_p.P1779A|RYR1_ENST00000355481.4_Missense_Mutation_p.P1779A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1779	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)	TCATTTCTCGCCCCCCTGTTT	0.682																																						uc002oit.3																			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.(5335-5337)Ccc>Gcc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						33	33	33					19																	38976630		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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.chr19:38976630C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5335C>G	19.37:g.38976630C>G	ENSP00000352608:p.Pro1779Ala		Somatic				RYR1_uc002oiu.3_Missense_Mutation_p.P1779A	p.P1779A	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		33	5465	+	all_cancers(60;7.91e-06)		1779			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5335C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	2.057	-0.416317	0.04766	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72051	-0.62;-0.62;-0.62	3.62	-1.2	0.09554	.	0.274240	0.28772	U	0.014186	T	0.53578	0.1805	L	0.54323	1.7	0.09310	N	1	P;B	0.37548	0.599;0.157	B;B	0.36030	0.216;0.053	T	0.50432	-0.8829	10	0.12103	T	0.63	.	4.3825	0.11300	0.1037:0.4142:0.329:0.153	.	1779;1779	P21817-2;P21817	.;RYR1_HUMAN	A	1779	ENSP00000352608:P1779A;ENSP00000347667:P1779A;ENSP00000354254:P1779A	ENSP00000347667:P1779A	P	+	1	0	RYR1	43668470	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-0.616000	0.05591	-0.717000	0.04955	-2.574000	0.00170	CCC		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			54	71	0	0	0	1	0	54	71					G	38976630	C	G	38976630	3	3	149	1	0	0	0	0	1	0	0	0	13768	739	26	4	5469	4	RYR1	19	38976630	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	28714455	38976630	20152353	30	2622											
SPHK2	56848	broad.mit.edu	37	19	49132445	49132445	+	Silent	SNP	T	T	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49132445T>C	ENST00000245222.4	+	7	1746	c.1380T>C	c.(1378-1380)gcT>gcC	p.A460A	SPHK2_ENST00000340932.3_Silent_p.A422A|SPHK2_ENST00000599029.1_Silent_p.A424A|SPHK2_ENST00000599748.1_Silent_p.A424A|SPHK2_ENST00000443164.1_Silent_p.A522A|SPHK2_ENST00000600537.1_Silent_p.A401A|SPHK2_ENST00000598088.1_Silent_p.A460A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	460					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGTGGGGCTGGGGATGCTC	0.687																																						uc002pjw.3																			0		p.P522S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1564-1566)gcT>gcC		Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.							41	51	48					19																	49132445		2200	4299	6499	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity	g.chr19:49132445T>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1380T>C	19.37:g.49132445T>C			Somatic				SPHK2_uc010xzt.2_Silent_p.A401A|SPHK2_uc002pjt.3_Silent_p.A254A|SPHK2_uc002pjr.3_Silent_p.A460A|SPHK2_uc002pjs.3_Silent_p.A460A|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.A424A	p.A522A	NM_001204160	NP_001191089	WXS	Illumina GAIIx	Phase_I	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	2263	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	460					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1566T>C	CCDS12727.1																																																																																				0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			88	123	0	0	0	1	0	88	123					C	49132445	T	C	49132445	2	2	149	1	0	0	0	0	0	0	0	1	15046	1567	55	3		3	SPHK2	19	49132445	Silent	SNP	T	TCGA-E8-A418-01A-11D-A23M-08	10155815	49132445	9996538	31	2623											
TRPM4	54795	broad.mit.edu	37	19	49693561	49693561	+	Missense_Mutation	SNP	C	C	T	rs199552085		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49693561C>T	ENST00000252826.5	+	15	2242	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	TRPM4_ENST00000355712.5_Missense_Mutation_p.R352C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R706C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	706					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CATCTACACCCGCCTCATCAC	0.597													c|||	1	0.000199681	8e-04	0	5008	,	,		17395	0		0	False		,,,				2504	0					uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2116-2118)Cgc>Tgc		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.							195	171	179					19																	49693561		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49693561C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2116C>T	19.37:g.49693561C>T	ENSP00000252826:p.Arg706Cys		Somatic				TRPM4_uc010emu.3_Missense_Mutation_p.R706C|TRPM4_uc010yak.2_Missense_Mutation_p.R170C|TRPM4_uc002pmx.3_Missense_Mutation_p.R532C|TRPM4_uc010emv.3_Missense_Mutation_p.R591C|TRPM4_uc010yal.2_Missense_Mutation_p.R352C|TRPM4_uc002pmy.3_Missense_Mutation_p.R48C	p.R706C	NM_017636	NP_060106	WXS	Illumina GAIIx	Phase_I	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	2224	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	706					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2116C>T	CCDS33073.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.77	2.336673	0.41398	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.71817	-0.6;-0.6;-0.6	4.99	-4.94	0.03057	.	0.946651	0.08919	N	0.874738	T	0.54013	0.1832	N	0.24115	0.695	0.26849	N	0.968209	D;D;D;D	0.55172	0.97;0.969;0.969;0.958	B;P;B;B	0.44732	0.27;0.459;0.34;0.431	T	0.55679	-0.8103	10	0.72032	D	0.01	-10.0993	7.8817	0.29627	0.3287:0.2364:0.4349:0.0	.	352;532;706;706	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	706;706;352	ENSP00000252826:R706C;ENSP00000407492:R706C;ENSP00000347944:R352C	ENSP00000252826:R706C	R	+	1	0	TRPM4	54385373	0.048000	0.20356	0.854000	0.33618	0.219000	0.24729	0.051000	0.14141	-0.914000	0.03827	-0.812000	0.03155	CGC		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		9	212	0	0	0	1	0	9	212					T	49693561	C	T	49693561	3	4	149	1	0	0	0	0	1	0	0	0	16585	652	23	1	2174	1	TRPM4	19	49693561	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08	561116	49693561	9435422	32	2624											
ZNF337	26152	broad.mit.edu	37	20	25656710	25656710	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr20:25656710A>G	ENST00000376436.1	-	4	1753	c.1214T>C	c.(1213-1215)gTg>gCg	p.V405A	RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V373A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V405A			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	405					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCCTTGCACACAAAAGGCTT	0.488																																						uc002wva.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1213-1215)gTg>gCg		Homo sapiens zinc finger protein 337 (ZNF337), mRNA.							119	104	109					20																	25656710		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656710A>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1214T>C	20.37:g.25656710A>G	ENSP00000365619:p.Val405Ala		Somatic				ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.V373A|ZNF337_uc002wvc.3_Missense_Mutation_p.V405A	p.V405A	NM_015655	NP_056470	WXS	Illumina GAIIx	Phase_I					3	1736	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1214T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647161	0.47258	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.11	-0.201	0.13212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.25380	0.74	0.09310	N	1	B;B	0.28026	0.198;0.198	B;B	0.22152	0.027;0.038	T	0.30238	-0.9985	9	0.38643	T	0.18	.	4.3723	0.11253	0.7055:0.0:0.0:0.2945	.	373;405	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	405;405;405;373	ENSP00000365619:V405A;ENSP00000252979:V405A;ENSP00000442181:V373A	ENSP00000252979:V405A	V	-	2	0	ZNF337	25604710	0.000000	0.05858	0.005000	0.12908	0.922000	0.55478	-2.761000	0.00786	-0.093000	0.12396	0.254000	0.18369	GTG		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			48	70	0	0	0	1	0	48	70					G	25656710	A	G	25656710	3	3	149	1	0	0	0	0	1	0	0	0	17850	159	6	3	1045	3	ZNF337	20	25656710	Missense_Mutation	SNP	A	TCGA-E8-A418-01A-11D-A23M-08		25656710	37368810	33	2625											
MCHR1	2847	broad.mit.edu	37	22	41077325	41077325	+	Missense_Mutation	SNP	C	C	A	rs201808043		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr22:41077325C>A	ENST00000249016.4	+	2	1358	c.662C>A	c.(661-663)aCg>aAg	p.T221K	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	221					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCTCTTCCACGAAGTTCCGG	0.587																																						uc003ayz.3																			0		p.T221T(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(661-663)aCg>aAg		Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.							156	132	140					22																	41077325		2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077325C>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.662C>A	22.37:g.41077325C>A	ENSP00000249016:p.Thr221Lys		Somatic				MCHR1_uc003aza.3_Missense_Mutation_p.T110K	p.T221K	NM_005297	NP_005288	WXS	Illumina GAIIx	Phase_I	Q99705	MCHR1_HUMAN			1	930	+			221					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.662C>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504731	0.44558	.	.	ENSG00000128285	ENST00000249016	T	0.70749	-0.51	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.089884	0.85682	D	0.000000	T	0.50120	0.1597	N	0.11364	0.135	0.80722	D	1	P	0.39964	0.697	B	0.33890	0.172	T	0.59595	-0.7425	10	0.54805	T	0.06	.	14.1424	0.65327	0.0:0.8488:0.1511:0.0	.	221	Q99705	MCHR1_HUMAN	K	221	ENSP00000249016:T221K	ENSP00000249016:T221K	T	+	2	0	MCHR1	39407271	0.945000	0.32115	1.000000	0.80357	0.935000	0.57460	6.199000	0.72112	2.559000	0.86315	0.655000	0.94253	ACG		0.587	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		75	159	0	0	0	1	0	75	159					A	41077325	C	A	41077325	3	1	149	1	0	0	0	0	1	0	0	0	9382	536	19	4	668	4	MCHR1	22	41077325	Missense_Mutation	SNP	C	TCGA-E8-A418-01A-11D-A23M-08		41077325	10227241	34	2626											
LMLN	89782	broad.mit.edu	37	3	197723067	197723067	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr3:197723067G>A	ENST00000330198.4	+	10	1091	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	RNU6-621P_ENST00000364752.1_RNA|LMLN_ENST00000420910.2_Missense_Mutation_p.D357N|LMLN_ENST00000482695.1_Missense_Mutation_p.D305N|LMLN_ENST00000332636.5_Missense_Mutation_p.D305N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	357					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)		AAAACATTTTGATTGTCCAGT	0.368																																						uc010iar.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1069-1071)Gat>Aat		Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.							99	94	96					3																	197723067		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197723067G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1069G>A	3.37:g.197723067G>A	ENSP00000328829:p.Asp357Asn		Somatic				LMLN_uc003fyt.3_Missense_Mutation_p.D305N|LMLN_uc011buo.2_Missense_Mutation_p.D357N|LMLN_uc010ias.3_Missense_Mutation_p.D305N|LMLN_uc003fyu.3_Missense_Mutation_p.D117N	p.D357N	NM_001136049	NP_001129521	WXS	Illumina GAIIx	Phase_I	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)	9	1091	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	357					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1069G>A	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	3.216	-0.160490	0.06502	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.87	2.26	0.28386	.	0.389721	0.30142	N	0.010308	T	0.10680	0.0261	N	0.00801	-1.175	0.26970	N	0.965607	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.11329	0.001;0.003;0.002;0.006;0.001	T	0.36553	-0.9743	10	0.02654	T	1	-11.0349	6.3886	0.21574	0.7085:0.0:0.2915:0.0	.	357;305;357;349;305	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	N	305;357;357;305	ENSP00000418324:D305N;ENSP00000328829:D357N;ENSP00000410926:D357N;ENSP00000328611:D305N	ENSP00000328829:D357N	D	+	1	0	LMLN	199207464	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.654000	0.37334	0.354000	0.24105	-0.511000	0.04467	GAT		0.368	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		6	44	0	0	0	1	0	6	44					A	197723067	G	A	197723067	3	1	150	1	0	0	0	0	1	0	0	0	8847	1290	45	2	1107	2	LMLN	3	197723067	Missense_Mutation	SNP	G	TCGA-E8-A419-01A-11D-A23M-08		197723067	299363	1	2627											
CCRN4L	25819	broad.mit.edu	37	4	139966572	139966572	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr4:139966572C>G	ENST00000280614.2	+	3	1433	c.1240C>G	c.(1240-1242)Cac>Gac	p.H414D	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	414					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TCCTTCAGACCACCTGTCTCT	0.383																																					Ovarian(144;566 1842 19130 21379 22209)	uc003ihl.3																			0				kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1240-1242)Cac>Gac		Homo sapiens CCR4 carbon catabolite repression 4-like (S. cerevisiae) (CCRN4L), mRNA.							82	81	81					4																	139966572		2203	4300	6503	SO:0001583	missense	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139966572C>G	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1240C>G	4.37:g.139966572C>G	ENSP00000280614:p.His414Asp		Somatic					p.H414D	NM_012118	NP_036250	WXS	Illumina GAIIx	Phase_I	Q9UK39	NOCT_HUMAN			2	1433	+	all_hematologic(180;0.162)		414					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	c.1240C>G	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636372	0.67130	.	.	ENSG00000151014	ENST00000280614	D	0.97906	-4.6	5.39	4.52	0.55395	Endonuclease/exonuclease/phosphatase (2);	0.098719	0.64402	D	0.000002	D	0.98998	0.9658	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99364	1.0918	9	.	.	.	-31.6505	15.0583	0.71933	0.1432:0.8568:0.0:0.0	.	414	Q9UK39	NOCT_HUMAN	D	414	ENSP00000280614:H414D	.	H	+	1	0	CCRN4L	140186022	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.749000	0.85096	1.213000	0.43380	0.585000	0.79938	CAC		0.383	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		25	73	0	0	0	1	0	25	73					G	139966572	C	G	139966572	3	3	150	1	0	0	0	0	1	0	0	0	2951	594	21	4	1250	4	CCRN4L	4	139966572	Missense_Mutation	SNP	C	TCGA-E8-A419-01A-11D-A23M-08		139966572	51187704	2	2628											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	62	0	0	0	1	0	28	62					T	140453136	A	T	140453136	3	4	150	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		140453136	18685527	3	2629											
SHC3	53358	broad.mit.edu	37	9	91628470	91628470	+	Silent	SNP	G	G	T			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr9:91628470G>T	ENST00000375835.4	-	12	1983	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V		NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	559	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TACTGTCAAAGACTCTGTCCT	0.493																																						uc004aqf.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(1675-1677)gtC>gtA		Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.							149	150	149					9																	91628470		2203	4300	6503	SO:0001819	synonymous_variant	53358				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity	g.chr9:91628470G>T	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"SH2 domain containing"	18181	protein-coding gene	gene with protein product		605263	"src homology 2 domain containing transforming protein C3"			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1677C>A	9.37:g.91628470G>T			Somatic					p.V559V	NM_016848	NP_058544	WXS	Illumina GAIIx	Phase_I	Q92529	SHC3_HUMAN			11	1984	-			559			SH2.		Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	c.1677C>A	CCDS6681.1																																																																																				0.493	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		10	105	0	0	0	1	0	10	105					T	91628470	G	T	91628470	2	4	150	1	0	0	0	0	0	0	0	1	14272	929	33	4		4	SHC3	9	91628470	Silent	SNP	G	TCGA-E8-A419-01A-11D-A23M-08		91628470	49584961	4	2630											
MLL	4297	broad.mit.edu	37	11	118379887	118379887	+	Missense_Mutation	SNP	A	A	C			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr11:118379887A>C	ENST00000389506.5	+	29	10863	c.10863A>C	c.(10861-10863)caA>caC	p.Q3621H	KMT2A_ENST00000534358.1_Missense_Mutation_p.Q3624H|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.Q3583H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3621					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGGTGACCCAAAATCCAGCAA	0.368																																						uc001ptb.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(10870-10872)caA>caC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							84	81	82					11																	118379887		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118379887A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10863A>C	11.37:g.118379887A>C	ENSP00000374157:p.Gln3621His		Somatic				MLL_uc001pta.3_Missense_Mutation_p.Q3621H	p.Q3624H	NM_001197104	NP_001184033	WXS	Illumina GAIIx	Phase_I	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	28	10895	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3621					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.10872A>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069799	0.36566	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82167	-1.58;-1.58;-1.54	6.1	0.942	0.19525	.	0.244121	0.42548	D	0.000694	T	0.73697	0.3620	L	0.36672	1.1	0.31372	N	0.679996	P;P	0.42785	0.79;0.79	B;B	0.41723	0.365;0.365	T	0.73000	-0.4120	10	0.49607	T	0.09	.	9.2122	0.37326	0.5089:0.0:0.4911:0.0	.	3624;3621	E9PQG7;Q03164	.;MLL1_HUMAN	H	3624;3621;3583;2531	ENSP00000436786:Q3624H;ENSP00000374157:Q3621H;ENSP00000346516:Q3583H	ENSP00000346516:Q3583H	Q	+	3	2	MLL	117885097	0.720000	0.27996	0.954000	0.39281	0.953000	0.61014	-0.062000	0.11674	0.160000	0.19432	0.491000	0.48974	CAA		0.368	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	38	0	0	0	1	0	4	38					C	118379887	A	C	118379887	3	2	150	1	0	0	0	0	1	0	0	0	9620	11	1	5	10977	5	MLL	11	118379887	Missense_Mutation	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		118379887	16626629	5	2631											
CNTNAP4	85445	broad.mit.edu	37	16	76495940	76495940	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr16:76495940C>G	ENST00000476707.1	+	8	1569	c.1430C>G	c.(1429-1431)gCt>gGt	p.A477G	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A401G|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A473G|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A425G			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	474	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGCCAGATGGCTTCTGCTGCT	0.488																																						uc002fex.1																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1429-1431)gCt>gGt		Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.							99	89	92					16																	76495940		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76495940C>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1430C>G	16.37:g.76495940C>G	ENSP00000417628:p.Ala477Gly		Somatic				CNTNAP4_uc002feu.1_Missense_Mutation_p.A473G|CNTNAP4_uc002fev.1_Missense_Mutation_p.A338G|CNTNAP4_uc010chb.1_Missense_Mutation_p.A401G|CNTNAP4_uc002few.2_Missense_Mutation_p.A449G	p.A477G	NM_033401	NP_207837	WXS	Illumina GAIIx	Phase_I	Q9C0A0	CNTP4_HUMAN			7	1569	+			474			Laminin G-like 2.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1430C>G		.	.	.	.	.	.	.	.	.	.	C	9.223	1.033916	0.19590	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	4.64	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.966170	0.08460	N	0.942568	T	0.76681	0.4021	.	.	.	0.09310	N	1	B;B;B;B	0.31026	0.0;0.075;0.001;0.304	B;B;B;B	0.42851	0.012;0.219;0.019;0.4	T	0.66069	-0.6015	9	0.34782	T	0.22	.	10.1849	0.42991	0.0:0.7799:0.1423:0.0779	.	401;477;449;474	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	G	473;425;401;477	ENSP00000306893:A473G;ENSP00000439733:A425G;ENSP00000418741:A401G;ENSP00000417628:A477G	ENSP00000306893:A473G	A	+	2	0	CNTNAP4	75053441	0.095000	0.21747	0.005000	0.12908	0.033000	0.12548	2.783000	0.47766	1.266000	0.44231	0.650000	0.86243	GCT		0.488	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		7	60	0	0	0	1	0	7	60					G	76495940	C	G	76495940	3	3	150	1	0	0	0	0	1	0	0	0	3649	797	28	4	1468	4	CNTNAP4	16	76495940	Missense_Mutation	SNP	C	TCGA-E8-A419-01A-11D-A23M-08		76495940	13858813	6	2632											
ZNF223	7766	broad.mit.edu	37	19	44564909	44564909	+	Silent	SNP	A	A	G			TCGA-E8-A419-01A-11D-A23M-08	TCGA-E8-A419-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59d39493-4797-45ee-ae2b-bbb49c3a801d	bf895cab-a1b0-42e8-8b95-7cfe22084e9b	g.chr19:44564909A>G	ENST00000434772.3	+	4	405	c.150A>G	c.(148-150)caA>caG	p.Q50Q	ZNF223_ENST00000585552.1_Silent_p.Q50Q|ZNF223_ENST00000588518.1_3'UTR|ZNF223_ENST00000591793.1_Silent_p.Q160Q	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	50	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)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CAGGGCATCAACCATTCCACC	0.408																																						uc002oyf.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(148-150)caA>caG		Homo sapiens zinc finger protein 223 (ZNF223), mRNA.							225	228	227					19																	44564909		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44564909A>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.150A>G	19.37:g.44564909A>G			Somatic				ZNF284_uc010ejd.2_Non-coding_Transcript	p.Q50Q	NM_013361	NP_037493	WXS	Illumina GAIIx	Phase_I	Q9UK11	ZN223_HUMAN			3	403	+		Prostate(69;0.0352)	50			KRAB.		Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.150A>G	CCDS12635.1																																																																																				0.408	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			68	173	0	0	0	1	0	68	173					G	44564909	A	G	44564909	2	3	150	1	0	0	0	0	0	0	0	1	17774	40	2	3		3	ZNF223	19	44564909	Silent	SNP	A	TCGA-E8-A419-01A-11D-A23M-08		44564909	14564074	7	2633											
ASAP2	8853	broad.mit.edu	37	2	9463376	9463376	+	Silent	SNP	C	C	T			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:9463376C>T	ENST00000281419.3	+	6	937	c.597C>T	c.(595-597)tgC>tgT	p.C199C	ASAP2_ENST00000315273.4_Silent_p.C199C	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	199					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.C199C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TACAGATGTGCGAGGTAAGGC	0.572																																						uc002qzh.2																			1	Substitution - coding silent(1)	p.C199C(2)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(595-597)tgC>tgT		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.							122	122	122					2																	9463376		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463376C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.597C>T	2.37:g.9463376C>T			Somatic				ASAP2_uc002qzi.2_Silent_p.C199C	p.C199C	NM_003887	NP_003878	WXS	Illumina GAIIx	Phase_I	O43150	ASAP2_HUMAN			5	937	+			199					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.597C>T	CCDS1661.1																																																																																				0.572	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		57	139	0	0	0	1	0	57	139					T	9463376	C	T	9463376	2	4	151	1	0	0	0	0	0	0	0	1	1011	776	27	1		1	ASAP2	2	9463376	Silent	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		9463376	233735997	1	2634											
ANKRD36	375248	broad.mit.edu	37	2	97790244	97790246	+	In_Frame_Del	DEL	TTC	TTC	-	rs367670018	byFrequency	TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:97790244_97790246delTTC	ENST00000461153.2	+	5	885_887	c.641_643delTTC	c.(640-645)attctt>att	p.L217del	ANKRD36_ENST00000420699.2_In_Frame_Del_p.L217del			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	217								p.L215I(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GATATAGTCATTCTTCTTCTGCA	0.35														37	0.00738818	0	0	5008	,	,		20583	0.0367		0	False		,,,				2504	0					uc010yva.2																			1	Substitution - Missense(1)	p.L215I(1)	prostate(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(640-645)attctt>att		Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.																																				SO:0001651	inframe_deletion	375248							g.chr2:97790244_97790246delTTC	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.641_643delTTC	2.37:g.97790250_97790252delTTC	ENSP00000419530:p.Leu217del		Somatic				ANKRD36_uc021vlk.1_In_Frame_Del_p.L217del|ANKRD36_uc010yuz.1_Intron|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_In_Frame_Del_p.L217del|ANKRD36_uc002sxp.3_Non-coding_Transcript	p.L217del	NM_001164315	NP_001157787	WXS	Illumina GAIIx	Phase_I	A6QL64	AN36A_HUMAN			4	885_887	+			217					B4E3I8|Q6UX02|Q86X62|Q9HCD1	In_Frame_Del	DEL	ENST00000461153.2	37	c.641_643delTTC	CCDS54379.1																																																																																				0.35	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	3						3	3	---	---	---	---	-	97790246	TTC	-	97790244	7	5	151	1	0	1	0	1	0	0	0	0	665	1493	52	0	659	0	ANKRD36	2	97790244	In_Frame_Del	DEL	TTC	TCGA-E8-A433-01A-11D-A23M-08	88326868	97790244	145409129	2	2635											
SF3B1	23451	broad.mit.edu	37	2	198299704	198299704	+	Missense_Mutation	SNP	G	G	A	rs190499887		TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr2:198299704G>A	ENST00000335508.6	-	1	111	c.20C>T	c.(19-21)aCt>aTt	p.T7I	SF3B1_ENST00000414963.2_Missense_Mutation_p.T7I|SF3B1_ENST00000409915.4_Missense_Mutation_p.T7I|SF3B1_ENST00000487698.1_Missense_Mutation_p.T7I	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	7					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)			ACCTTCGTGAGTCTTGGCGAT	0.493			Mis		myelodysplastic syndrome								G|||	1	0.000199681	0	0	5008	,	,		18731	0		0.001	False		,,,				2504	0					uc002uue.3				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		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.(19-21)aCt>aTt		Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.							118	98	105					2																	198299704		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	g.chr2:198299704G>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.20C>T	2.37:g.198299704G>A	ENSP00000335321:p.Thr7Ile		Somatic				SF3B1_uc010fsk.1_Non-coding_Transcript|SF3B1_uc002uuf.3_Missense_Mutation_p.T7I|SF3B1_uc002uug.3_Missense_Mutation_p.T7I	p.T7I	NM_012433	NP_036565	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		0	68	-			7					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.20C>T	CCDS33356.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.27	3.346124	0.61073	.	.	ENSG00000115524	ENST00000335508;ENST00000409915;ENST00000414963;ENST00000487698	.	.	.	4.95	4.95	0.65309	.	0.115076	0.64402	D	0.000016	T	0.63604	0.2525	M	0.71581	2.175	0.80722	D	1	B;B;P	0.52577	0.004;0.001;0.954	B;B;P	0.47206	0.004;0.0;0.541	T	0.69907	-0.5018	9	0.72032	D	0.01	.	15.0443	0.71816	0.0:0.0:1.0:0.0	.	7;7;7	B4DGZ4;E9PCH3;O75533	.;.;SF3B1_HUMAN	I	7	.	ENSP00000335321:T7I	T	-	2	0	SF3B1	198007949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.359000	0.59449	2.588000	0.87417	0.561000	0.74099	ACT		0.493	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			23	51	0	0	0	1	0	23	51					A	198299704	G	A	198299704	3	1	151	1	0	0	0	0	1	0	0	0	14149	1029	36	2	4018	2	SF3B1	2	198299704	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08	100509460	198299704	44899669	3	2636											
PCDHA6	56142	broad.mit.edu	37	5	140208982	140208982	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr5:140208982T>A	ENST00000529310.1	+	1	1420	c.1306T>A	c.(1306-1308)Tgg>Agg	p.W436R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.W436R|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_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	436	Cadherin 4. {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)			GCCTTCGCTGTGGGCCACCGC	0.622																																						uc003lho.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1306-1308)Tgg>Agg		Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.							58	69	65					5																	140208982		2202	4300	6502	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140208982T>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1306T>A	5.37:g.140208982T>A	ENSP00000433378:p.Trp436Arg		Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.W436R|PCDHAC2_uc011dab.2_Missense_Mutation_p.W436R	p.W436R	NM_018909	NP_061732	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1333	+			450			Cadherin 4.		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1306T>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	0.161	-1.080851	0.01888	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01647	4.71;4.71	3.7	2.53	0.30540	Cadherin (5);Cadherin-like (1);	0.861175	0.09460	U	0.799182	T	0.00724	0.0024	N	0.00602	-1.34	0.09310	N	1	B;B;B	0.14438	0.006;0.007;0.01	B;B;B	0.19666	0.026;0.026;0.017	T	0.48103	-0.9064	10	0.24483	T	0.36	.	5.0487	0.14497	0.0:0.1793:0.1565:0.6642	.	436;436;436	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	436	ENSP00000433378:W436R;ENSP00000434113:W436R	ENSP00000434113:W436R	W	+	1	0	PCDHA6	140189166	0.729000	0.28090	0.945000	0.38365	0.173000	0.22820	3.123000	0.50453	0.599000	0.29845	0.260000	0.18958	TGG		0.622	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		79	123	0	0	0	1	0	79	123					A	140208982	T	A	140208982	3	1	151	1	0	0	0	0	1	0	0	0	11528	1696	59	5	1308	5	PCDHA6	5	140208982	Missense_Mutation	SNP	T	TCGA-E8-A433-01A-11D-A23M-08		140208982	40706278	4	2637											
TFAP2B	7021	broad.mit.edu	37	6	50796357	50796357	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr6:50796357G>A	ENST00000393655.3	+	3	735	c.566G>A	c.(565-567)gGc>gAc	p.G189D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.G198D	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	189					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)					AATAACAGCGGCATGAATCTA	0.333																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(565-567)gGc>gAc		Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.							120	119	119					6																	50796357		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.chr6:50796357G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.566G>A	6.37:g.50796357G>A	ENSP00000377265:p.Gly189Asp		Somatic					p.G189D	NM_003221	NP_003212	WXS	Illumina GAIIx	Phase_I	Q92481	AP2B_HUMAN			2	732	+	Lung NSC(77;0.156)		189					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.566G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376479	0.42105	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.86497	-2.13;-2.13;-2.13	5.68	5.68	0.88126	.	0.102832	0.64402	D	0.000003	T	0.77791	0.4183	L	0.29908	0.895	0.58432	D	0.999999	P	0.34780	0.468	B	0.39503	0.301	T	0.79843	-0.1632	10	0.48119	T	0.1	-16.3539	15.2974	0.73919	0.0:0.1395:0.8605:0.0	.	189	Q92481	AP2B_HUMAN	D	189;187;198	ENSP00000377265:G189D;ENSP00000342252:G187D;ENSP00000263046:G198D	ENSP00000263046:G198D	G	+	2	0	TFAP2B	50904316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.975000	0.63777	2.689000	0.91719	0.655000	0.94253	GGC		0.333	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		5	111	0	0	0	1	0	5	111					A	50796357	G	A	50796357	3	1	151	1	0	0	0	0	1	0	0	0	15785	1203	42	2	576	2	TFAP2B	6	50796357	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08		50796357	120318710	5	2638											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	75	0	0	0	1	0	43	75					T	140453136	A	T	140453136	3	4	151	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A433-01A-11D-A23M-08		140453136	18685527	6	2639											
LYN	4067	broad.mit.edu	37	8	56866442	56866442	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr8:56866442A>G	ENST00000519728.1	+	8	985	c.689A>G	c.(688-690)aAg>aGg	p.K230R	LYN_ENST00000520220.2_Missense_Mutation_p.K209R	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	230					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ATTAGTCCCAAGCCACAGAAG	0.478																																						uc003xsk.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(688-690)aAg>aGg		Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.							76	79	78					8																	56866442		2203	4300	6503	SO:0001583	missense	4067				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866442A>G	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.689A>G	8.37:g.56866442A>G	ENSP00000428924:p.Lys230Arg		Somatic				LYN_uc003xsl.4_Missense_Mutation_p.K209R	p.K230R	NM_002350	NP_002341	WXS	Illumina GAIIx	Phase_I	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		7	971	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	230					A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.689A>G	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407557	0.62399	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.74526	-0.82;-0.85	5.08	5.08	0.68730	Protein kinase-like domain (1);SH2 motif (1);	0.084306	0.85682	D	0.000000	T	0.65678	0.2714	L	0.33293	1	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62760	-0.6786	10	0.49607	T	0.09	.	15.1358	0.72566	1.0:0.0:0.0:0.0	.	300;230	Q6NUK7;P07948	.;LYN_HUMAN	R	230;209	ENSP00000428924:K230R;ENSP00000428424:K209R	ENSP00000428924:K230R	K	+	2	0	LYN	57028996	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.191000	0.72063	2.049000	0.60858	0.528000	0.53228	AAG		0.478	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		28	48	0	0	0	1	0	28	48					G	56866442	A	G	56866442	3	3	151	1	0	0	0	0	1	0	0	0	9107	72	3	3	715	3	LYN	8	56866442	Missense_Mutation	SNP	A	TCGA-E8-A433-01A-11D-A23M-08		56866442	89497580	7	2640											
ADAM12	8038	broad.mit.edu	37	10	127843851	127843851	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr10:127843851G>A	ENST00000368679.4	-	4	593	c.284C>T	c.(283-285)aCg>aTg	p.T95M	ADAM12_ENST00000368676.4_Missense_Mutation_p.T95M	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	95					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTGGGTTTCCGTGAAACTGCT	0.433																																						uc001ljk.2																			0		p.T95T(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(283-285)aCg>aTg		Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.							150	142	145					10																	127843851		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr10:127843851G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.284C>T	10.37:g.127843851G>A	ENSP00000357668:p.Thr95Met		Somatic				ADAM12_uc010qul.1_Missense_Mutation_p.T95M|ADAM12_uc001ljm.3_Missense_Mutation_p.T95M|ADAM12_uc001ljn.3_Missense_Mutation_p.T95M|ADAM12_uc001ljl.4_Missense_Mutation_p.T95M	p.T95M	NM_003474	NP_003465	WXS	Illumina GAIIx	Phase_I	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	3	697	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	95					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.284C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964831	0.74131	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.07021	3.23;3.23;3.23	4.66	4.66	0.58398	Peptidase M12B, propeptide (1);	0.306104	0.28796	N	0.014108	T	0.23094	0.0558	L	0.54323	1.7	0.44142	D	0.996935	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.999	D;D;D;P;D	0.78314	0.991;0.985;0.985;0.899;0.933	T	0.00129	-1.2016	10	0.66056	D	0.02	.	13.2681	0.60146	0.0:0.0:1.0:0.0	.	95;95;95;95;95	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	M	95	ENSP00000357668:T95M;ENSP00000357665:T95M;ENSP00000391268:T95M	ENSP00000357665:T95M	T	-	2	0	ADAM12	127833841	0.997000	0.39634	0.975000	0.42487	0.987000	0.75469	3.160000	0.50739	2.565000	0.86533	0.655000	0.94253	ACG		0.433	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			46	84	0	0	0	1	0	46	84					A	127843851	G	A	127843851	3	1	151	1	0	0	0	0	1	0	0	0	236	1145	40	1	2633	1	ADAM12	10	127843851	Missense_Mutation	SNP	G	TCGA-E8-A433-01A-11D-A23M-08		127843851	7690896	8	2641											
MMP13	4322	broad.mit.edu	37	11	102819790	102819790	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr11:102819790C>T	ENST00000260302.3	-	7	1043	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	MMP13_ENST00000340273.4_Missense_Mutation_p.E339K	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	339	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAAGGGTGCTCATATGCAGCA	0.488																																						uc001phl.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1015-1017)Gag>Aag		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							157	138	144					11																	102819790		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102819790C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1015G>A	11.37:g.102819790C>T	ENSP00000260302:p.Glu339Lys		Somatic					p.E339K	NM_002427	NP_002418	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	1044	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	339			Hemopexin-like 2.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1015G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104376	0.76983	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.03004	4.08;4.08	5.4	5.4	0.78164	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52801	-0.8527	10	0.87932	D	0	.	19.5301	0.95225	0.0:1.0:0.0:0.0	.	339	P45452	MMP13_HUMAN	K	339	ENSP00000260302:E339K;ENSP00000339672:E339K	ENSP00000260302:E339K	E	-	1	0	MMP13	102325000	1.000000	0.71417	0.895000	0.35142	0.061000	0.15899	7.445000	0.80570	2.706000	0.92434	0.484000	0.47621	GAG		0.488	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		25	66	0	0	0	1	0	25	66					T	102819790	C	T	102819790	3	4	151	1	0	0	0	0	1	0	0	0	9652	835	29	2	416	2	MMP13	11	102819790	Missense_Mutation	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		102819790	32186726	9	2642											
SIAE	54414	broad.mit.edu	37	11	124539274	124539274	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr11:124539274T>C	ENST00000263593.3	-	2	383	c.211A>G	c.(211-213)Aaa>Gaa	p.K71E	SIAE_ENST00000525730.1_5'Flank|SIAE_ENST00000545756.1_Missense_Mutation_p.K36E			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	71			K -> R (in dbSNP:rs12282107). {ECO:0000269|PubMed:20555325}.		carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CTGGTCACTTTCTTCATGATG	0.532											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qan.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(211-213)Aaa>Gaa		Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.							240	189	206					11																	124539274		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124539274T>C	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.211A>G	11.37:g.124539274T>C	ENSP00000263593:p.Lys71Glu		Somatic	OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1535	SIAE_uc021qru.1_Missense_Mutation_p.K36E|SIAE_uc001qao.2_Missense_Mutation_p.K71E	p.K71E	NM_170601	NP_001186851	WXS	Illumina GAIIx	Phase_I	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	1	384	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	71		K -> R (in dbSNP:rs12282107).			B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.211A>G	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	T	9.206	1.029636	0.19512	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.84070	-1.8;-1.77	5.4	5.4	0.78164	.	0.312791	0.34531	N	0.003890	T	0.76198	0.3954	L	0.46885	1.475	0.38333	D	0.94384	B;B	0.20671	0.047;0.012	B;B	0.22386	0.039;0.017	T	0.72414	-0.4301	10	0.27785	T	0.31	.	9.4881	0.38942	0.0:0.0817:0.0:0.9183	.	36;71	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	E	71;36	ENSP00000263593:K71E;ENSP00000437877:K36E	ENSP00000263593:K71E	K	-	1	0	SIAE	124044484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.332000	0.52083	2.271000	0.75665	0.533000	0.62120	AAA		0.532	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		39	64	0	0	0	1	0	39	64					C	124539274	T	C	124539274	3	2	151	1	0	0	0	0	1	0	0	0	14298	1792	62	3	1396	3	SIAE	11	124539274	Missense_Mutation	SNP	T	TCGA-E8-A433-01A-11D-A23M-08	21719484	124539274	10467242	10	2643											
RARA	5914	broad.mit.edu	37	17	38508725	38508726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr17:38508725_38508726insA	ENST00000254066.5	+	6	1228_1229	c.773_774insA	c.(772-777)atcaccfs	p.T259fs	RARA_ENST00000425707.3_Frame_Shift_Ins_p.T162fs|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Frame_Shift_Ins_p.T259fs|RARA_ENST00000394086.3_Frame_Shift_Ins_p.T275fs|RARA_ENST00000394081.3_Frame_Shift_Ins_p.T254fs	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	259	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|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 granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCGACCAGATCACCCTCCTCA	0.604			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																	uc021txb.1				Dom	yes		17	17q12	5914	T	"retinoic acid receptor, alpha"			L	"PML, ZNF145, TIF1, NUMA1, NPM1"		APL		0				breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(772-774)atcfs		Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)																																			SO:0001589	frameshift_variant	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38508725_38508726insA	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	Exception_encountered	17.37:g.38508725_38508726insA	ENSP00000254066:p.Thr259fs		Somatic				RARA_uc002huk.2_Frame_Shift_Ins_p.I258fs|RARA_uc002hul.4_Frame_Shift_Ins_p.I258fs|RARA_uc010wfe.2_Frame_Shift_Ins_p.I161fs|RARA_uc002hun.2_Frame_Shift_Ins_p.I253fs	p.I258fs	NM_001145301	NP_001138773	WXS	Illumina GAIIx	Phase_I	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		4	1135_1136	+		Breast(137;0.00328)	258			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Frame_Shift_Ins	INS	ENST00000254066.5	37	c.773_774insA	CCDS11366.1																																																																																				0.604	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			17	39						17	39	---	---	---	---	A	38508726	-	A	38508725	7	5	151	1	0	1	1	0	0	0	0	0	13052	1435	50	0	958	0	RARA	17	38508725	Frame_Shift_Ins	INS	-	TCGA-E8-A433-01A-11D-A23M-08		38508725	42686485	11	2644											
SNRNP70	6625	broad.mit.edu	37	19	49610890	49610890	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A433-01A-11D-A23M-08	TCGA-E8-A433-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54f7b709-1f2d-4424-9180-cb52ecd97676	a9dad2a0-43d5-4c1d-932d-460d6753a72d	g.chr19:49610890C>T	ENST00000598441.1	+	9	810	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	SNRNP70_ENST00000221448.5_Missense_Mutation_p.L196F			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	196					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						AGGAGGAGGCCTCGGTGGTAC	0.622																																						uc002pmk.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(586-588)Ctc>Ttc		Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.							59	61	60					19																	49610890		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding	g.chr19:49610890C>T		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.586C>T	19.37:g.49610890C>T	ENSP00000472998:p.Leu196Phe		Somatic				SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_5'UTR	p.L196F	NM_003089	NP_003080	WXS	Illumina GAIIx	Phase_I	P08621	RU17_HUMAN			8	1025	+			196					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.586C>T	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058809	0.55325	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	T	0.74737	-0.87	4.24	4.24	0.50183	Nucleotide-binding, alpha-beta plait (1);	0.153192	0.43747	D	0.000524	T	0.81955	0.4932	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.84474	0.0601	10	0.87932	D	0	-10.5264	15.7987	0.78433	0.0:1.0:0.0:0.0	.	196;196	P08621;P08621-2	RU17_HUMAN;.	F	196;100	ENSP00000221448:L196F	ENSP00000221448:L196F	L	+	1	0	SNRNP70	54302702	1.000000	0.71417	0.987000	0.45799	0.590000	0.36582	1.686000	0.37669	2.095000	0.63458	0.462000	0.41574	CTC		0.622	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		24	46	0	0	0	1	0	24	46					T	49610890	C	T	49610890	3	4	151	1	0	0	0	0	1	0	0	0	14858	681	24	2	616	2	SNRNP70	19	49610890	Missense_Mutation	SNP	C	TCGA-E8-A433-01A-11D-A23M-08		49610890	9518093	12	2645											
CSMD2	114784	broad.mit.edu	37	1	34087848	34087848	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:34087848T>C	ENST00000373380.1	-	16	2585	c.2365A>G	c.(2365-2367)Aac>Gac	p.N789D	CSMD2_ENST00000373377.1_Missense_Mutation_p.N15D|CSMD2_ENST00000373381.4_Missense_Mutation_p.N1916D|CSMD2_ENST00000373388.2_Missense_Mutation_p.N15D			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1876	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)				GAGGTGCTGTTCAGAAGGGCA	0.512																																						uc001bxm.1																			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.(5746-5748)Aac>Gac		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							148	130	136					1																	34087848		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34087848T>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2365A>G	1.37:g.34087848T>C	ENSP00000362478:p.Asn789Asp		Somatic				CSMD2_uc001bxn.1_Missense_Mutation_p.N1876D|CSMD2_uc001bxo.1_Missense_Mutation_p.N789D	p.N1916D	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			36	5923	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1876			Sushi 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5746A>G		.	.	.	.	.	.	.	.	.	.	T	32	5.118420	0.94385	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.75	5.75	0.90469	CUB (5);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	L	0.51914	1.62	0.58432	D	0.999994	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.67856	-0.5562	10	0.33940	T	0.23	.	14.8904	0.70604	0.0:0.0:0.0:1.0	.	789;1876;1916	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	D	1916;789;15;15	ENSP00000362479:N1916D;ENSP00000362478:N789D;ENSP00000362475:N15D;ENSP00000362486:N15D	ENSP00000241312:N1876D	N	-	1	0	CSMD2	33860435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.669000	0.83911	2.201000	0.70794	0.533000	0.62120	AAC		0.512	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		10	43	0	0	0	1	0	10	43					C	34087848	T	C	34087848	3	2	152	1	0	0	0	0	1	0	0	0	3945	1783	62	3	4969	3	CSMD2	1	34087848	Missense_Mutation	SNP	T	TCGA-E8-A436-01A-12D-A23U-08		34087848	215162773	1	2646											
FAAH	2166	broad.mit.edu	37	1	46867852	46867852	+	Silent	SNP	C	C	G			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:46867852C>G	ENST00000243167.8	+	2	369	c.285C>G	c.(283-285)gcC>gcG	p.A95A	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	95					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CCCCTGAGGCCGTGCTCTTCA	0.632																																						uc001cpu.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(283-285)gcC>gcG		Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	Propofol(DB00818)|Thiopental(DB00599)						33	30	31					1																	46867852		2203	4299	6502	SO:0001819	synonymous_variant	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46867852C>G	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.285C>G	1.37:g.46867852C>G			Somatic					p.A95A	NM_001441	NP_001432	WXS	Illumina GAIIx	Phase_I	O00519	FAAH1_HUMAN			1	367	+	Acute lymphoblastic leukemia(166;0.155)		95					D3DQ19|Q52M86|Q5TDF8	Silent	SNP	ENST00000243167.8	37	c.285C>G	CCDS535.1																																																																																				0.632	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		3	5	0	0	0	1	0	3	5					G	46867852	C	G	46867852	2	3	152	1	0	0	0	0	0	0	0	1	5353	639	23	4		4	FAAH	1	46867852	Silent	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	12780004	46867852	202382769	2	2647											
WLS	79971	broad.mit.edu	37	1	68619274	68619274	+	Silent	SNP	G	G	A			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:68619274G>A	ENST00000262348.4	-	5	982	c.729C>T	c.(727-729)ccC>ccT	p.P243P	WLS_ENST00000354777.2_Silent_p.P241P|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Silent_p.P243P|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Silent_p.P152P	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	243					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGAAGATGCTGGGCGTAAGGA	0.483																																						uc001dee.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(721-723)ccC>ccT		Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.							133	108	117					1																	68619274		2203	4300	6503	SO:0001819	synonymous_variant	79971				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity	g.chr1:68619274G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.729C>T	1.37:g.68619274G>A			Somatic				GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.P243P|WLS_uc001deg.2_Silent_p.P152P|WLS_uc009wbf.1_Silent_p.P198P|WLS_uc021oor.1_Silent_p.P198P	p.P241P	NM_001002292	NP_001002292	WXS	Illumina GAIIx	Phase_I	Q5T9L3	WLS_HUMAN			4	1025	-			243					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.723C>T	CCDS642.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185743	0.21870	.	.	ENSG00000116729	ENST00000534713	T	0.38887	1.11	5.48	4.57	0.56435	.	0.053238	0.85682	D	0.000000	T	0.34019	0.0883	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33163	-0.9879	7	0.54805	T	0.06	-19.9025	6.531	0.22326	0.1489:0.0:0.7049:0.1462	.	.	.	.	L	146	ENSP00000431552:P146L	ENSP00000431552:P146L	P	-	2	0	WLS	68391862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.179000	0.50887	1.313000	0.45069	0.563000	0.77884	CCA		0.483	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		9	20	0	0	0	1	0	9	20					A	68619274	G	A	68619274	2	1	152	1	0	0	0	0	0	0	0	1	17373	1335	47	2		2	WLS	1	68619274	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08	21751422	68619274	180631347	3	2648											
RGL1	23179	broad.mit.edu	37	1	183849863	183849863	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr1:183849863C>T	ENST00000360851.3	+	5	717	c.539C>T	c.(538-540)cCg>cTg	p.P180L	RGL1_ENST00000536277.1_Missense_Mutation_p.P178L|RGL1_ENST00000539189.1_Missense_Mutation_p.P180L|RGL1_ENST00000304685.4_Missense_Mutation_p.P215L			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	180	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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						CGGATGATGCCGGGCTCTGAC	0.488																																						uc001gqm.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(643-645)cCg>cTg		Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.							80	78	79					1																	183849863		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding	g.chr1:183849863C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.539C>T	1.37:g.183849863C>T	ENSP00000354097:p.Pro180Leu		Somatic				RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.P178L|RGL1_uc010poh.2_Missense_Mutation_p.P178L|RGL1_uc001gqo.3_Missense_Mutation_p.P180L|RGL1_uc010poi.2_Missense_Mutation_p.P180L	p.P215L	NM_015149	NP_055964	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			5	1105	+			180					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.644C>T		.	.	.	.	.	.	.	.	.	.	C	29.3	4.990659	0.93106	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.16	5.16	0.70880	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.63428	1.95	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;0.997;0.997;0.997	T	0.54146	-0.8337	10	0.51188	T	0.08	.	19.014	0.92886	0.0:1.0:0.0:0.0	.	180;178;180;215	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	L	215;215;178;180;180	ENSP00000303192:P215L;ENSP00000356501:P215L;ENSP00000438662:P178L;ENSP00000354097:P180L;ENSP00000437355:P180L	ENSP00000303192:P215L	P	+	2	0	RGL1	182116486	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	5.789000	0.69029	2.552000	0.86080	0.555000	0.69702	CCG		0.488	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		7	39	0	0	0	1	0	7	39					T	183849863	C	T	183849863	3	4	152	1	0	0	0	0	1	0	0	0	13276	652	23	1	662	1	RGL1	1	183849863	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	115230589	183849863	65400758	4	2649											
P4HTM	54681	broad.mit.edu	37	3	49042565	49042565	+	Intron	SNP	C	C	G			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr3:49042565C>G	ENST00000383729.4	+	6	1444				WDR6_ENST00000448293.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.P387A|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|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)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGTGGGCGTGCCCCTTGGCAT	0.597																																						uc003cvh.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1159-1161)Ccc>Gcc		Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	Vitamin C(DB00126)						56	51	53					3																	49042565		2203	4300	6503	SO:0001627	intron_variant	54681					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion 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.chr3:49042565C>G		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1073+86C>G	3.37:g.49042565C>G			Somatic				P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.P387A	NM_177938	NP_808807	WXS	Illumina GAIIx	Phase_I	Q9NXG6	P4HTM_HUMAN			5	1508	+			0			Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1159C>G	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873646	0.17322	.	.	ENSG00000178467	ENST00000343546	.	.	.	2.85	-0.211	0.13172	.	1.402880	0.05152	N	0.496164	T	0.28797	0.0714	.	.	.	0.09310	N	1	P	0.45715	0.865	B	0.41135	0.348	T	0.30650	-0.9971	7	.	.	.	.	8.3996	0.32579	0.6194:0.3806:0.0:0.0	.	387	Q9NXG6-3	.	A	387	.	.	P	+	1	0	P4HTM	49017569	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-0.730000	0.04915	-0.051000	0.13334	-0.293000	0.09583	CCC		0.597	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		9	38	0	0	0	1	0	9	38					G	49042565	C	G	49042565	1	3	152	0	1	0	0	0	0	0	0	0	11360	739	26	4		4	P4HTM	3	49042565	Intron	SNP	C	TCGA-E8-A436-01A-12D-A23U-08		49042565	148979865	5	2650											
MKRN1	23608	broad.mit.edu	37	7	140155658	140155658	+	Silent	SNP	T	T	A			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr7:140155658T>A	ENST00000255977.2	-	6	1253	c.1029A>T	c.(1027-1029)ccA>ccT	p.P343P	MKRN1_ENST00000474576.1_Silent_p.P279P|MKRN1_ENST00000437223.2_Silent_p.P77P	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	343					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGTACTCACTTGGAATGACAA	0.468																																						uc003vvt.2																			0		p.I342T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1027-1029)ccA>ccT		Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.							92	89	90					7																	140155658		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140155658T>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1029A>T	7.37:g.140155658T>A			Somatic				MKRN1_uc003vvs.2_Silent_p.P279P|MKRN1_uc011krd.1_Silent_p.P77P	p.P343P	NM_013446	NP_038474	WXS	Illumina GAIIx	Phase_I	Q9UHC7	MKRN1_HUMAN			5	1254	-	Melanoma(164;0.00956)		343					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.1029A>T	CCDS5860.1																																																																																				0.468	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		7	24	0	0	0	1	0	7	24					A	140155658	T	A	140155658	2	1	152	1	0	0	0	0	0	0	0	1	9606	1799	63	5		5	MKRN1	7	140155658	Silent	SNP	T	TCGA-E8-A436-01A-12D-A23U-08		140155658	18983005	6	2651											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	20	0	0	0	1	0	5	20					T	140453136	A	T	140453136	3	4	152	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A436-01A-12D-A23U-08	297478	140453136	18685527	7	2652											
DRD4	1815	broad.mit.edu	37	11	639536	639536	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr11:639536G>T	ENST00000176183.5	+	2	401	c.389G>T	c.(388-390)aGc>aTc	p.S130I	DRD4_ENST00000528733.1_3'UTR	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	130					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	TGCGCCATCAGCGTGGACAGG	0.776																																						uc001lqp.2																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(388-390)aGc>aTc		Homo sapiens dopamine receptor D4 (DRD4), mRNA.	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						28	22	24					11																	639536		2191	4291	6482	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity	g.chr11:639536G>T	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.389G>T	11.37:g.639536G>T	ENSP00000176183:p.Ser130Ile		Somatic					p.S130I	NM_000797	NP_000788	WXS	Illumina GAIIx	Phase_I	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	1	389	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	130					B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.389G>T	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986983	0.74589	.	.	ENSG00000069696	ENST00000176183	T	0.81330	-1.48	3.29	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	.	.	.	0.58432	D	0.999993	D	0.76494	0.999	D	0.71656	0.974	D	0.89507	0.3768	9	0.87932	D	0	.	12.4391	0.55615	0.0:0.0:1.0:0.0	.	130	P21917	DRD4_HUMAN	I	130	ENSP00000176183:S130I	ENSP00000176183:S130I	S	+	2	0	DRD4	629536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.337000	0.79256	1.842000	0.53543	0.462000	0.41574	AGC		0.776	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		7	28	0	0	0	1	0	7	28					T	639536	G	T	639536	3	4	152	1	0	0	0	0	1	0	0	0	4759	971	34	4	395	4	DRD4	11	639536	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		639536	134366980	8	2653											
OR5L1	219437	broad.mit.edu	37	11	55579597	55579597	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr11:55579597C>A	ENST00000333973.2	+	1	744	c.655C>A	c.(655-657)Ctg>Atg	p.L219M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, 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)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCTCCTACCTGCTAATTCT	0.502																																						uc001nhw.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(655-657)Ctg>Atg		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.							214	173	187					11																	55579597		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579597C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.655C>A	11.37:g.55579597C>A	ENSP00000335529:p.Leu219Met		Somatic					p.L219M	NM_001004738	NP_001004738	WXS	Illumina GAIIx	Phase_I	Q8NGL2	OR5L1_HUMAN			0	655	+		all_epithelial(135;0.208)	219					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.655C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	10.82	1.458279	0.26161	.	.	ENSG00000186117	ENST00000333973	T	0.00145	8.67	4.12	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	0.390474	0.19435	N	0.114335	T	0.00178	0.0005	L	0.31476	0.935	0.09310	N	1	P	0.49447	0.924	D	0.64877	0.93	T	0.41627	-0.9498	10	0.37606	T	0.19	-23.243	8.1312	0.31029	0.0739:0.4145:0.4109:0.1007	.	219	Q8NGL2	OR5L1_HUMAN	M	219	ENSP00000335529:L219M	ENSP00000335529:L219M	L	+	1	2	OR5L1	55336173	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-3.420000	0.00477	-3.442000	0.00162	-0.468000	0.05107	CTG		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		21	63	0	0	0	1	0	21	63					A	55579597	C	A	55579597	3	1	152	1	0	0	0	0	1	0	0	0	11170	680	24	4	657	4	OR5L1	11	55579597	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	54940061	55579597	79426919	9	2654											
ADAMTS20	80070	broad.mit.edu	37	12	43826126	43826126	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr12:43826126G>A	ENST00000389420.3	-	21	3076	c.3077C>T	c.(3076-3078)gCt>gTt	p.A1026V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1026V|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A180V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1026	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACTAGCAGCCCAACTGGG	0.378																																						uc010skx.2																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3076-3078)gCt>gTt		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							115	106	109					12																	43826126		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826126G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3077C>T	12.37:g.43826126G>A	ENSP00000374071:p.Ala1026Val		Somatic				ADAMTS20_uc001rno.1_Missense_Mutation_p.A180V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.A180V	p.A1026V	NM_025003	NP_079279	WXS	Illumina GAIIx	Phase_I	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	20	3077	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1026			TSP type-1 5.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3077C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811869	0.32053	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.91	4.02	0.46733	.	0.130292	0.34223	N	0.004157	T	0.44307	0.1287	L	0.33093	0.98	0.22591	N	0.998958	B;P	0.49961	0.242;0.93	B;P	0.45913	0.159;0.497	T	0.23297	-1.0192	10	0.17832	T	0.49	.	6.351	0.21375	0.1551:0.0:0.6959:0.1489	.	1026;180	P59510;E9PBD5	ATS20_HUMAN;.	V	1026;192;180;1026;1026	ENSP00000374071:A1026V;ENSP00000447427:A192V;ENSP00000378911:A180V;ENSP00000448341:A1026V	ENSP00000374068:A1026V	A	-	2	0	ADAMTS20	42112393	0.772000	0.28567	0.986000	0.45419	0.955000	0.61496	1.157000	0.31724	1.375000	0.46248	0.563000	0.77884	GCT		0.378	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	25	0	0	0	1	0	3	25					A	43826126	G	A	43826126	3	1	152	1	0	0	0	0	1	0	0	0	266	971	34	2	2730	2	ADAMTS20	12	43826126	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		43826126	90025769	10	2655											
GPR109B	8843	broad.mit.edu	37	12	123201154	123201154	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr12:123201154C>T	ENST00000528880.2	-	1	285	c.131G>A	c.(130-132)gGc>gAc	p.G44D	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	44					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)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AAGGCCATTGCCCAGAAGCCC	0.502																																						uc001ucy.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(130-132)gGc>gAc		Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)						66	65	65					12																	123201154		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123201154C>T	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.131G>A	12.37:g.123201154C>T	ENSP00000436714:p.Gly44Asp		Somatic				HCAR1_uc001ucw.1_Intron	p.G44D	NM_006018	NP_006009	WXS	Illumina GAIIx	Phase_I	P49019	HCAR3_HUMAN			0	286	-			44					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.131G>A	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508934	0.64410	.	.	ENSG00000255398	ENST00000528880	T	0.57107	0.42	3.27	2.36	0.29203	.	.	.	.	.	T	0.77219	0.4098	H	0.96460	3.825	0.43010	D	0.994541	D	0.76494	0.999	D	0.73380	0.98	T	0.78635	-0.2127	9	0.72032	D	0.01	.	8.4536	0.32886	0.0:0.8747:0.0:0.1253	.	44	E9PI97	.	D	44	ENSP00000436714:G44D	ENSP00000436714:G44D	G	-	2	0	HCAR3	121767107	0.008000	0.16893	0.992000	0.48379	0.806000	0.45545	1.923000	0.40055	0.470000	0.27294	0.184000	0.17185	GGC		0.502	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		4	20	0	0	0	1	0	4	20					T	123201154	C	T	123201154	3	4	152	1	0	0	0	0	1	0	0	0	6626	739	26	2	1036	2	GPR109B	12	123201154	Missense_Mutation	SNP	C	TCGA-E8-A436-01A-12D-A23U-08	79375028	123201154	10650741	11	2656											
AK7	122481	broad.mit.edu	37	14	96887171	96887171	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr14:96887171G>A	ENST00000267584.4	+	5	555	c.511G>A	c.(511-513)Gtt>Att	p.V171I	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	171					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGATTCTGAGGTTCCATTCAC	0.343																																						uc001yfn.2																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(511-513)Gtt>Att		Homo sapiens adenylate kinase 7 (AK7), mRNA.							74	76	76					14																	96887171		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	g.chr14:96887171G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.511G>A	14.37:g.96887171G>A	ENSP00000267584:p.Val171Ile		Somatic					p.V171I	NM_152327	NP_689540	WXS	Illumina GAIIx	Phase_I	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	4	555	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	171					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.511G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	3.929	-0.016559	0.07681	.	.	ENSG00000140057	ENST00000267584	T	0.27104	1.69	5.21	0.719	0.18208	NAD(P)-binding domain (1);	0.428856	0.23893	N	0.043527	T	0.06962	0.0177	N	0.01751	-0.74	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	10	0.02654	T	1	-8.7476	8.1563	0.31171	0.4292:0.0:0.5708:0.0	.	171	Q96M32	KAD7_HUMAN	I	171	ENSP00000267584:V171I	ENSP00000267584:V171I	V	+	1	0	AK7	95956924	1.000000	0.71417	0.034000	0.17996	0.432000	0.31715	1.165000	0.31822	-0.089000	0.12484	0.561000	0.74099	GTT		0.343	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			5	9	0	0	0	1	0	5	9					A	96887171	G	A	96887171	3	1	152	1	0	0	0	0	1	0	0	0	444	1261	44	2	529	2	AK7	14	96887171	Missense_Mutation	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		96887171	10462369	12	2657											
LRRC4B	94030	broad.mit.edu	37	19	51022055	51022055	+	Silent	SNP	G	G	A	rs372018089		TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr19:51022055G>A	ENST00000599957.1	-	3	1112	c.915C>T	c.(913-915)cgC>cgT	p.R305R	LRRC4B_ENST00000389201.3_Silent_p.R305R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	305					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)		TGAGGTGCACGCGCTCGAGGC	0.642																																						uc002pss.3																			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.(913-915)cgC>cgT		Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.		G		1,4349		0,1,2174	81	94	89		915	-1.2	1.0	19		89	0,8526		0,0,4263	no	coding-synonymous	LRRC4B	NM_001080457.1		0,1,6437	AA,AG,GG		0.0,0.023,0.0078		305/714	51022055	1,12875	2175	4263	6438	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022055G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.915C>T	19.37:g.51022055G>A			Somatic					p.R305R	NM_001080457	NP_001073926	WXS	Illumina GAIIx	Phase_I	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	2	1052	-		all_neural(266;0.131)	305					Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.915C>T	CCDS42595.1																																																																																				0.642	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		13	107	0	0	0	1	0	13	107					A	51022055	G	A	51022055	2	1	152	1	0	0	0	0	0	0	0	1	9007	1074	38	1		1	LRRC4B	19	51022055	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		51022055	8106928	13	2658											
TRPM2	7226	broad.mit.edu	37	21	45819240	45819240	+	Silent	SNP	G	G	A			TCGA-E8-A436-01A-12D-A23U-08	TCGA-E8-A436-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880059a5-6b55-4711-973d-103913cabb97	5179f570-8244-445b-af30-f2f271d41214	g.chr21:45819240G>A	ENST00000397928.1	+	14	2569	c.2124G>A	c.(2122-2124)gtG>gtA	p.V708V	TRPM2_ENST00000300482.5_Silent_p.V708V|TRPM2_ENST00000397932.2_Silent_p.V708V|TRPM2_ENST00000300481.9_Silent_p.V688V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	708					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						TCACCCGCGTGTCCGAGGCCT	0.632																																						uc010gpt.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.(2122-2124)gtG>gtA		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							65	63	63					21																	45819240		2203	4299	6502	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819240G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2124G>A	21.37:g.45819240G>A			Somatic				TRPM2_uc002zet.1_Silent_p.V708V|TRPM2_uc002zeu.1_Silent_p.V708V|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.V708V|TRPM2_uc002zex.1_Silent_p.V494V|TRPM2_uc002zey.1_Silent_p.V221V	p.V708V	NM_003307	NP_003298	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			13	2224	+			708					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2124G>A	CCDS13710.1																																																																																				0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		14	73	0	0	0	1	0	14	73					A	45819240	G	A	45819240	2	1	152	1	0	0	0	0	0	0	0	1	16583	1364	48	2		2	TRPM2	21	45819240	Silent	SNP	G	TCGA-E8-A436-01A-12D-A23U-08		45819240	2310655	14	2659											
ITGAV	3685	broad.mit.edu	37	2	187541588	187541588	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:187541588C>A	ENST00000261023.3	+	29	3251	c.2977C>A	c.(2977-2979)Cct>Act	p.P993T	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.P947T|ITGAV_ENST00000374907.3_Missense_Mutation_p.P957T	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	993					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CATGCCTGTGCCTGTGTGGGT	0.423																																					Melanoma(58;108 1995 6081)	uc002upq.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2977-2979)Cct>Act		Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.							136	128	131					2																	187541588		2203	4300	6503	SO:0001583	missense	3685				ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187541588C>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2977C>A	2.37:g.187541588C>A	ENSP00000261023:p.Pro993Thr		Somatic				ITGAV_uc010frs.3_Missense_Mutation_p.P957T|ITGAV_uc010zfv.2_Missense_Mutation_p.P947T	p.P993T	NM_002210	NP_002201	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	28	3253	+			993					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2977C>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988509	0.74589	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	D;D;D	0.98901	-5.22;-5.22;-5.22	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	M	0.83483	2.645	0.47123	D	0.999329	D;D;D	0.76494	0.986;0.999;0.986	P;D;P	0.74674	0.843;0.984;0.843	D	0.99719	1.1009	10	0.87932	D	0	.	18.5007	0.90879	0.0:1.0:0.0:0.0	.	947;957;993	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	T	993;957;947	ENSP00000261023:P993T;ENSP00000364042:P957T;ENSP00000404291:P947T	ENSP00000261023:P993T	P	+	1	0	ITGAV	187249833	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.291000	0.59025	2.423000	0.82170	0.650000	0.86243	CCT		0.423	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		25	62	0	0	0	1	0	25	62					A	187541588	C	A	187541588	3	1	153	1	0	0	0	0	1	0	0	0	7888	739	26	4	3142	4	ITGAV	2	187541588	Missense_Mutation	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		187541588	55657785	1	2660											
CLK1	1195	broad.mit.edu	37	2	201718131	201718131	+	Silent	SNP	A	A	G			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr2:201718131A>G	ENST00000321356.4	-	13	1488	c.1353T>C	c.(1351-1353)ttT>ttC	p.F451F	CLK1_ENST00000409769.2_Silent_p.F274F|CLK1_ENST00000434813.2_Silent_p.F493F	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GAATGAGGTCAAAGAGACGCT	0.363																																						uc010zhi.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1477-1479)ttT>ttC		Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 2, mRNA.							87	85	86					2																	201718131		2203	4300	6503	SO:0001819	synonymous_variant	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201718131A>G	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"CDC-like kinases"	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1353T>C	2.37:g.201718131A>G			Somatic				CLK1_uc002uwe.2_Silent_p.F451F|CLK1_uc002uwf.2_Silent_p.F225F|CLK1_uc002uwg.2_Silent_p.F300F	p.F493F	NM_001162407	NP_004062	WXS	Illumina GAIIx	Phase_I	P49759	CLK1_HUMAN			12	1814	-			451					B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	c.1479T>C	CCDS2331.1																																																																																				0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			14	28	0	0	0	1	0	14	28					G	201718131	A	G	201718131	2	3	153	1	0	0	0	0	0	0	0	1	3536	127	5	3		3	CLK1	2	201718131	Silent	SNP	A	TCGA-E8-A437-01A-12D-A23U-08	14176543	201718131	41481242	2	2661											
PGK2	5232	broad.mit.edu	37	6	49754598	49754598	+	Silent	SNP	G	G	A	rs549102825		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr6:49754598G>A	ENST00000304801.3	-	1	455	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	101					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCACTTCTGCGCCTACACAGT	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		19522	0		0	False		,,,				2504	0					uc003ozu.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(301-303)ggC>ggT		Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.							123	115	117					6																	49754598		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754598G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.303C>T	6.37:g.49754598G>A			Somatic					p.G101G	NM_138733	NP_620061	WXS	Illumina GAIIx	Phase_I	P07205	PGK2_HUMAN			0	456	-	Lung NSC(77;0.0402)		101					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.303C>T	CCDS4930.1																																																																																				0.522	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			14	100	0	0	0	1	0	14	100					A	49754598	G	A	49754598	2	1	153	1	0	0	0	0	0	0	0	1	11791	1074	38	1		1	PGK2	6	49754598	Silent	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		49754598	121360469	3	2662											
BRAF	673	broad.mit.edu	37	7	140453135	140453136	+	Missense_Mutation	DNP	CA	CA	TT	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr7:140453135_140453136CA>TT	ENST00000288602.6	-	15	1859_1860	c.1799_1800TG>AA	c.(1798-1800)gTG>gAA	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATCGAGATTTCACTGTAGCTAG	0.371	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15809	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)|Substitution - coding silent(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.V600V(2)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(337)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gtg>gAA		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)																																			SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453135_140453136CA>TT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799_1800delinsTT	7.37:g.140453135_140453136delinsTT	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860_1861	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	DNP	ENST00000288602.6	37	c.1799_1800TG>AA	CCDS5863.1																																																																																				0.371	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	39	0	0	0	1	0	13	39					TT	140453136	CA	TT	140453135	3	4	153	1	0	0	0	0	1	0	0	0	1496	813	29	2	516	2	BRAF	7	140453135	Missense_Mutation	DNP	CA	TCGA-E8-A437-01A-12D-A23U-08		140453135	18685528	4	2663											
GFI1B	8328	broad.mit.edu	37	9	135865148	135865148	+	Missense_Mutation	SNP	G	G	A	rs367947845		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr9:135865148G>A	ENST00000339463.3	+	10	1487	c.668G>A	c.(667-669)cGc>cAc	p.R223H	GFI1B_ENST00000450530.1_Missense_Mutation_p.R223H|GFI1B_ENST00000372123.1_Missense_Mutation_p.R177H|GFI1B_ENST00000534944.1_Missense_Mutation_p.R177H|GFI1B_ENST00000372124.1_Missense_Mutation_p.R177H|GFI1B_ENST00000372122.1_Missense_Mutation_p.R223H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	223	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.R223F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TTCGAGTGCCGCATGTGCGGC	0.677																																						uc004ccg.3																			1	Substitution - Missense(1)	p.R223F(2)	lung(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(667-669)cGc>cAc		Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	49	43	45		530,668	1.4	1.0	9		45	0,8600		0,0,4300	no	missense,missense	GFI1B	NM_001135031.1,NM_004188.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	177/285,223/331	135865148	1,13005	2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135865148G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.668G>A	9.37:g.135865148G>A	ENSP00000344782:p.Arg223His		Somatic				GFI1B_uc010mzy.3_Missense_Mutation_p.R177H	p.R223H	NM_004188	NP_004179	WXS	Illumina GAIIx	Phase_I	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	5	1023	+			223			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.668G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849738	0.51270	2.27E-4	0.0	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	4.8	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065346	0.64402	D	0.000017	T	0.25232	0.0613	N	0.12443	0.215	0.27970	N	0.93643	B;B	0.16166	0.016;0.009	B;B	0.17098	0.01;0.017	T	0.15752	-1.0426	10	0.72032	D	0.01	-25.6719	5.495	0.16797	0.5423:0.0:0.4577:0.0	.	177;223	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	H	177;223;223;177;177;223	ENSP00000361197:R177H;ENSP00000344782:R223H;ENSP00000409546:R223H;ENSP00000446134:R177H;ENSP00000361196:R177H;ENSP00000361195:R223H	ENSP00000344782:R223H	R	+	2	0	GFI1B	134854969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.572000	0.45999	0.547000	0.28938	0.591000	0.81541	CGC		0.677	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		3	29	0	0	0	1	0	3	29					A	135865148	G	A	135865148	3	1	153	1	0	0	0	0	1	0	0	0	6340	1087	38	1	686	1	GFI1B	9	135865148	Missense_Mutation	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		135865148	5348283	5	2664											
SLIT1	6585	broad.mit.edu	37	10	98806446	98806446	+	Silent	SNP	G	G	A	rs527636768		TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr10:98806446G>A	ENST00000266058.4	-	18	2063	c.1818C>T	c.(1816-1818)agC>agT	p.S606S	SLIT1_ENST00000371070.4_Silent_p.S606S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	606					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGAACATGCCGCTCCGGATGG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		18592	0		0	False		,,,				2504	0					uc001kmw.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1816-1818)agC>agT		Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.							52	43	46					10																	98806446		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	g.chr10:98806446G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1818C>T	10.37:g.98806446G>A			Somatic				SLIT1_uc009xvh.1_Silent_p.S616S	p.S606S	NM_003061	NP_003052	WXS	Illumina GAIIx	Phase_I	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	17	2070	-		Colorectal(252;0.162)	606					Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1818C>T	CCDS7453.1																																																																																				0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	23	0	0	0	1	0	14	23					A	98806446	G	A	98806446	2	1	153	1	0	0	0	0	0	0	0	1	14739	1078	38	1		1	SLIT1	10	98806446	Silent	SNP	G	TCGA-E8-A437-01A-12D-A23U-08		98806446	36728301	6	2665											
RSF1	51773	broad.mit.edu	37	11	77412844	77412844	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr11:77412844T>C	ENST00000308488.6	-	6	1732	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	RSF1_ENST00000480887.1_Missense_Mutation_p.D225G|RSF1_ENST00000360355.2_Missense_Mutation_p.D446G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GATATTTCTGTCCTTAGAGGG	0.403																																						uc001oyn.3																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1429-1431)gAc>gGc		Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.							122	120	121					11																	77412844		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412844T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1430A>G	11.37:g.77412844T>C	ENSP00000311513:p.Asp477Gly		Somatic				RSF1_uc001oym.3_Missense_Mutation_p.D225G	p.D477G	NM_016578	NP_057662	WXS	Illumina GAIIx	Phase_I	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		5	1550	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		477					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1430A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232874	0.39498	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.86627	-2.12;-2.14;-2.12;-2.15;1.28	5.54	3.23	0.37069	.	0.339854	0.25469	N	0.030443	T	0.79695	0.4490	L	0.32530	0.975	0.39706	D	0.971252	B	0.12630	0.006	B	0.09377	0.004	T	0.73043	-0.4107	10	0.66056	D	0.02	-3.853	9.66	0.39950	0.0:0.1338:0.0:0.8662	.	477	Q96T23	RSF1_HUMAN	G	477;225;446;278;476	ENSP00000311513:D477G;ENSP00000434509:D225G;ENSP00000353511:D446G;ENSP00000432022:D278G;ENSP00000436408:D476G	ENSP00000311513:D477G	D	-	2	0	RSF1	77090492	0.998000	0.40836	0.516000	0.27786	0.969000	0.65631	2.552000	0.45828	0.411000	0.25702	0.533000	0.62120	GAC		0.403	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		23	51	0	0	0	1	0	23	51					C	77412844	T	C	77412844	3	2	153	1	0	0	0	0	1	0	0	0	13699	1667	58	3	2939	3	RSF1	11	77412844	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		77412844	57593672	7	2666											
PDZRN4	29951	broad.mit.edu	37	12	41966816	41966816	+	Silent	SNP	C	C	T			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr12:41966816C>T	ENST00000402685.2	+	10	2243	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZRN4_ENST00000298919.7_Silent_p.C485C|PDZRN4_ENST00000539469.2_Silent_p.C487C	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	745							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTGAGAGCTGCAGAAGTACTC	0.483																																						uc010skn.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2233-2235)tgC>tgT		Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.							106	104	105					12																	41966816		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966816C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2235C>T	12.37:g.41966816C>T			Somatic				PDZRN4_uc001rmq.4_Silent_p.C487C|PDZRN4_uc009zjz.3_Silent_p.C485C|PDZRN4_uc001rmr.3_Silent_p.C372C	p.C745C	NM_001164595	NP_001158067	WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			9	2243	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	745					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.2235C>T	CCDS53777.1																																																																																				0.483	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		39	60	0	0	0	1	0	39	60					T	41966816	C	T	41966816	2	4	153	1	0	0	0	0	0	0	0	1	11710	718	25	2		2	PDZRN4	12	41966816	Silent	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		41966816	91885079	8	2667											
SLC12A6	9990	broad.mit.edu	37	15	34549844	34549844	+	Splice_Site	SNP	C	C	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr15:34549844C>A	ENST00000354181.3	-	6	1181	c.689G>T	c.(688-690)tGt>tTt	p.C230F	SLC12A6_ENST00000560164.1_Intron|SLC12A6_ENST00000558667.1_Splice_Site_p.C230F|SLC12A6_ENST00000560611.1_Splice_Site_p.C230F|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000290209.5_Splice_Site_p.C179F|SLC12A6_ENST00000397702.2_Splice_Site_p.C171F|SLC12A6_ENST00000397707.2_Splice_Site_p.C215F|SLC12A6_ENST00000558589.1_Splice_Site_p.C221F|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000458406.2_Splice_Site_p.C171F			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	230	Poly-Cys.				angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGTACTTACACAGCAGCAGCA	0.438																																						uc001zhw.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.e5+1		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	Potassium Chloride(DB00761)						75	66	69					15																	34549844		2201	4298	6499	SO:0001630	splice_region_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34549844C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.690+1G>T	15.37:g.34549844C>A			Somatic				SLC12A6_uc001zhv.3_Splice_Site_p.C179_splice|SLC12A6_uc001zhz.3_Splice_Site|SLC12A6_uc001zhx.3_Splice_Site_p.C215_splice|SLC12A6_uc001zhy.3_Splice_Site|SLC12A6_uc001zia.3_Splice_Site_p.C171_splice|SLC12A6_uc001zib.3_Splice_Site_p.C221_splice|SLC12A6_uc001zic.3_Splice_Site_p.C230_splice|SLC12A6_uc010bau.3_Splice_Site_p.C230_splice|SLC12A6_uc001zid.3_Splice_Site_p.C171_splice|SLC12A6_uc001zhu.3_Intron	p.C230_splice	NM_133647	NP_598408	WXS	Illumina GAIIx	Phase_I	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	5	854	-		all_lung(180;2.78e-08)	230			Poly-Cys.		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Splice_Site	SNP	ENST00000354181.3	37	c.690_splice	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931477	0.92389	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.55	5.55	0.83447	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	M	0.89095	3.005	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.978	P;D;D	0.70227	0.906;0.968;0.936	D	0.99406	1.0929	10	0.87932	D	0	.	18.4345	0.90640	0.0:1.0:0.0:0.0	.	215;230;179	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	F	179;215;221;171;171	ENSP00000290209:C179F;ENSP00000380819:C215F;ENSP00000380814:C171F;ENSP00000387725:C171F	ENSP00000290209:C179F	C	-	2	0	SLC12A6	32337136	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.651000	0.83577	2.885000	0.99019	0.655000	0.94253	TGT		0.438	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	Missense_Mutation	7	17	0	0	0	1	0	7	17					A	34549844	C	A	34549844	5	1	153	1	0	0	0	0	0	0	1	0	14387	492	17	4	2847	4	SLC12A6	15	34549844	Splice_Site	SNP	C	TCGA-E8-A437-01A-12D-A23U-08		34549844	67981548	9	2668											
ALPK2	115701	broad.mit.edu	37	18	56246284	56246284	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr18:56246284A>G	ENST00000361673.3	-	4	1937	c.1724T>C	c.(1723-1725)cTa>cCa	p.L575P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	575						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTCTGGGTTAGTGGGGGCTC	0.498											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lhj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1723-1725)cTa>cCa		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							98	88	91					18																	56246284		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246284A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1724T>C	18.37:g.56246284A>G	ENSP00000354991:p.Leu575Pro		Somatic	OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.L575P	NM_052947	NP_443179	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			3	1938	-			575					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1724T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796533	0.50208	.	.	ENSG00000198796	ENST00000361673	T	0.55234	0.53	5.76	0.506	0.16961	.	2.381610	0.02710	N	0.112745	T	0.48822	0.1521	L	0.55990	1.75	0.19575	N	0.999969	B	0.22851	0.076	B	0.20577	0.03	T	0.34976	-0.9807	10	0.66056	D	0.02	0.1959	5.6533	0.17629	0.5936:0.2701:0.1363:0.0	.	575	Q86TB3	ALPK2_HUMAN	P	575	ENSP00000354991:L575P	ENSP00000354991:L575P	L	-	2	0	ALPK2	54397264	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.253000	0.18296	-0.124000	0.11724	0.533000	0.62120	CTA		0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		30	63	0	0	0	1	0	30	63					G	56246284	A	G	56246284	3	3	153	1	0	0	0	0	1	0	0	0	545	420	15	3	4828	3	ALPK2	18	56246284	Missense_Mutation	SNP	A	TCGA-E8-A437-01A-12D-A23U-08		56246284	21830964	10	2669											
ZNF573	126231	broad.mit.edu	37	19	38230588	38230588	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:38230588T>A	ENST00000590414.2	-	4	824	c.803A>T	c.(802-804)cAt>cTt	p.H268L	ZNF573_ENST00000357309.3_Missense_Mutation_p.H180L|ZNF573_ENST00000392138.1_Missense_Mutation_p.H181L|ZNF573_ENST00000536220.1_Missense_Mutation_p.H180L|ZNF573_ENST00000339503.4_Missense_Mutation_p.H210L			Q86YE8	ZN573_HUMAN	zinc finger protein 573	268					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)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCGCCAGTATGAACTCTCTG	0.433																																						uc002ohe.3																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(802-804)cAt>cTt		Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.							116	111	113					19																	38230588		2203	4300	6503	SO:0001583	missense	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230588T>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.803A>T	19.37:g.38230588T>A	ENSP00000465020:p.His268Leu		Somatic				ZNF573_uc010efs.2_Missense_Mutation_p.H181L|ZNF573_uc002ohd.3_Missense_Mutation_p.H266L|ZNF573_uc002ohf.3_Missense_Mutation_p.H210L|ZNF573_uc002ohg.3_Missense_Mutation_p.H180L|ZNF573_uc021utv.1_Missense_Mutation_p.H180L	p.H268L	NM_001172690	NP_001166161	WXS	Illumina GAIIx	Phase_I	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		4	872	-			248					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	c.803A>T	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699348	0.48307	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85141	0.5629	H	0.96633	3.855	0.30386	N	0.78146	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;P;D;P	0.67382	0.951;0.904;0.942;0.904	T	0.81523	-0.0894	9	0.87932	D	0	.	9.0479	0.36358	0.0:0.0:0.0:1.0	.	181;210;248;180	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	L	181;180;180;210;180	ENSP00000375983:H181L;ENSP00000440464:H180L;ENSP00000349861:H180L;ENSP00000340171:H210L	ENSP00000340171:H210L	H	-	2	0	ZNF573	42922428	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.839000	0.62810	0.935000	0.37341	0.477000	0.44152	CAT		0.433	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		37	68	0	0	0	1	0	37	68					A	38230588	T	A	38230588	3	1	153	1	0	0	0	0	1	0	0	0	18002	1464	51	5	1198	5	ZNF573	19	38230588	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		38230588	20898395	11	2670											
VSTM1	284415	broad.mit.edu	37	19	54545172	54545172	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr19:54545172G>A	ENST00000338372.2	-	7	726	c.551C>T	c.(550-552)gCc>gTc	p.A184V	VSTM1_ENST00000366170.2_Missense_Mutation_p.A96V|VSTM1_ENST00000376626.1_Missense_Mutation_p.A153V|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	184					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCCCTTACCGGCAGCCTCCTG	0.478																																						uc002qcw.4																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(550-552)gCc>gTc		Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.							59	60	60					19																	54545172		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54545172G>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.551C>T	19.37:g.54545172G>A	ENSP00000343366:p.Ala184Val		Somatic				VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.A96V|VSTM1_uc002qcx.4_Missense_Mutation_p.A153V|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A64V	p.A184V	NM_198481	NP_940883	WXS	Illumina GAIIx	Phase_I	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	6	727	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		184					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.551C>T	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	G	7.669	0.686596	0.14973	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.48522	2.65;6.78;6.45;0.81	2.63	0.382	0.16234	.	2.851890	0.01693	U	0.026742	T	0.23210	0.0561	N	0.19112	0.55	0.20489	N	0.999892	B;P	0.35575	0.267;0.51	B;B	0.19666	0.026;0.026	T	0.16837	-1.0389	10	0.02654	T	1	.	3.9453	0.09346	0.1454:0.2489:0.6057:0.0	.	153;184	D2DJS4;Q6UX27	.;VSTM1_HUMAN	V	74;184;153;96	ENSP00000409412:A74V;ENSP00000343366:A184V;ENSP00000365813:A153V;ENSP00000444153:A96V	ENSP00000343366:A184V	A	-	2	0	VSTM1	59236984	0.004000	0.15560	0.005000	0.12908	0.004000	0.04260	0.342000	0.19926	0.196000	0.20367	0.638000	0.83543	GCC		0.478	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		3	45	0	0	0	1	0	3	45					A	54545172	G	A	54545172	3	1	153	1	0	0	0	0	1	0	0	0	17225	1203	42	2	171	2	VSTM1	19	54545172	Missense_Mutation	SNP	G	TCGA-E8-A437-01A-12D-A23U-08	16314584	54545172	4583811	12	2671											
ITPA	3704	broad.mit.edu	37	20	3204049	3204049	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chr20:3204049T>G	ENST00000380113.3	+	8	718	c.526T>G	c.(526-528)Tcc>Gcc	p.S176A	ITPA_ENST00000399838.3_Missense_Mutation_p.S135A|ITPA_ENST00000455664.2_Missense_Mutation_p.S159A|ITPA_ENST00000483354.1_3'UTR	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GAACGCTGTCTCCCATCGCTT	0.617																																						uc002wid.3																			0				autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						c.(526-528)Tcc>Gcc		Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.							65	49	54					20																	3204049		2203	4300	6503	SO:0001583	missense	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3204049T>G	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.526T>G	20.37:g.3204049T>G	ENSP00000369456:p.Ser176Ala		Somatic				ITPA_uc002wie.3_Missense_Mutation_p.S159A|ITPA_uc002wif.3_Non-coding_Transcript	p.S176A	NM_033453	NP_258412	WXS	Illumina GAIIx	Phase_I	Q9BY32	ITPA_HUMAN			7	668	+			176						Missense_Mutation	SNP	ENST00000380113.3	37	c.526T>G	CCDS13051.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.052321	0.75960	.	.	ENSG00000125877	ENST00000380113;ENST00000455664;ENST00000399838	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	H	0.99937	4.99	0.49213	D	0.999763	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;0.999	D	0.94624	0.7816	9	0.87932	D	0	.	12.574	0.56354	0.0:0.0:0.0:1.0	.	159;176	B2BCH7;Q9BY32	.;ITPA_HUMAN	A	176;159;135	.	ENSP00000369456:S176A	S	+	1	0	ITPA	3152049	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	5.851000	0.69481	2.225000	0.72522	0.460000	0.39030	TCC		0.617	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			7	28	0	0	0	1	0	7	28					G	3204049	T	G	3204049	3	3	153	1	0	0	0	0	1	0	0	0	7915	1551	54	5	556	5	ITPA	20	3204049	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		3204049	59821471	13	2672											
BEND2	139105	broad.mit.edu	37	X	18234789	18234789	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:18234789T>A	ENST00000380033.4	-	2	222	c.90A>T	c.(88-90)gaA>gaT	p.E30D	BEND2_ENST00000380030.3_Missense_Mutation_p.E30D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	30										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTCAGAAACTTCCACCATCT	0.358																																						uc004cyj.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(88-90)gaA>gaT		Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.							191	146	161					X																	18234789		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18234789T>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.90A>T	X.37:g.18234789T>A	ENSP00000369372:p.Glu30Asp		Somatic				BEND2_uc010nfb.2_Missense_Mutation_p.E30D	p.E30D	NM_153346	NP_699177	WXS	Illumina GAIIx	Phase_I	Q8NDZ0	BEND2_HUMAN			1	244	-			30					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.90A>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	t	11.43	1.636762	0.29068	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24723	1.87;1.84	3.17	-2.6	0.06190	.	346.429000	0.00166	N	0.000000	T	0.13927	0.0337	N	0.19112	0.55	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.23018	0.043;0.043	T	0.16897	-1.0387	10	0.87932	D	0	-2.3967	4.0961	0.09991	0.0:0.3366:0.4091:0.2543	.	30;30	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	D	30	ENSP00000369372:E30D;ENSP00000369369:E30D	ENSP00000369369:E30D	E	-	3	2	BEND2	18144710	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.710000	0.05024	-0.640000	0.05495	0.414000	0.27820	GAA		0.358	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		6	51	0	0	0	1	0	6	51					A	18234789	T	A	18234789	3	1	153	1	0	0	0	0	1	0	0	0	1398	1606	56	5	2387	5	BEND2	23	18234789	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08		18234789	137035771	14	2673											
SYTL5	94122	broad.mit.edu	37	X	37931394	37931394	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:37931394T>A	ENST00000357972.5	+	4	970	c.424T>A	c.(424-426)Tcc>Acc	p.S142T	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S142T|SYTL5_ENST00000456733.2_Missense_Mutation_p.S142T			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	142					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGTCCGACAGTCCATTTTAAG	0.373																																						uc004ddx.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(424-426)Tcc>Acc		Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.							152	128	136					X																	37931394		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding	g.chrX:37931394T>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.424T>A	X.37:g.37931394T>A	ENSP00000350657:p.Ser142Thr		Somatic				SYTL5_uc004ddu.3_Missense_Mutation_p.S142T|SYTL5_uc004ddv.3_Missense_Mutation_p.S142T	p.S142T	NM_001163334	NP_001156806	WXS	Illumina GAIIx	Phase_I	Q8TDW5	SYTL5_HUMAN			2	780	+			142					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.424T>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045442	0.75846	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.26067	1.76;1.76;2.1	5.33	5.33	0.75918	.	0.113104	0.64402	D	0.000007	T	0.54046	0.1834	M	0.86178	2.8	0.32074	N	0.594001	D;D	0.89917	0.966;1.0	B;D	0.76071	0.395;0.987	T	0.67860	-0.5561	10	0.49607	T	0.09	-9.136	13.4248	0.61020	0.0:0.0:0.0:1.0	.	142;142	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	T	142	ENSP00000297875:S142T;ENSP00000350657:S142T;ENSP00000395220:S142T	ENSP00000297875:S142T	S	+	1	0	SYTL5	37816338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.114000	0.64648	1.882000	0.54519	0.417000	0.27973	TCC		0.373	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		8	71	0	0	0	1	0	8	71					A	37931394	T	A	37931394	3	1	153	1	0	0	0	0	1	0	0	0	15483	1667	58	5	434	5	SYTL5	23	37931394	Missense_Mutation	SNP	T	TCGA-E8-A437-01A-12D-A23U-08	19696605	37931394	117339166	15	2674											
ALG13	79868	broad.mit.edu	37	X	110951452	110951452	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A437-01A-12D-A23U-08	TCGA-E8-A437-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790acd37-23ee-49d1-bf24-05d6ac48d678	5dfb3d6d-6d77-40bd-bd60-4d86741432ac	g.chrX:110951452C>T	ENST00000394780.3	+	4	593	c.581C>T	c.(580-582)cCt>cTt	p.P194L	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.P90L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	194	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GCTTTTTTTCCTCTCCCTCTT	0.473																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(580-582)cCt>cTt		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							125	105	111					X																	110951452		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	g.chrX:110951452C>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.581C>T	X.37:g.110951452C>T	ENSP00000378260:p.Pro194Leu		Somatic				ALG13_uc011msw.2_Missense_Mutation_p.P116L|ALG13_uc011msx.2_Missense_Mutation_p.P90L|ALG13_uc011msz.2_Missense_Mutation_p.P116L|ALG13_uc011mta.2_Missense_Mutation_p.P90L|ALG13_uc011mtb.2_Missense_Mutation_p.P90L	p.P194L	NM_001099922	NP_001093392	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			3	682	+			194					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.581C>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	7.200	0.593195	0.13875	.	.	ENSG00000101901	ENST00000251943;ENST00000486353;ENST00000394780;ENST00000495283	T;T;T;T	0.76968	1.57;-1.06;0.6;1.57	5.03	1.88	0.25563	.	.	.	.	.	T	0.51719	0.1691	N	0.08118	0	0.09310	N	1	B;B;B	0.15473	0.013;0.008;0.013	B;B;B	0.21917	0.037;0.016;0.022	T	0.38265	-0.9669	9	0.07030	T	0.85	.	4.8818	0.13683	0.1992:0.595:0.0:0.2058	.	116;194;90	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	90;194;194;90	ENSP00000251943:P90L;ENSP00000426892:P194L;ENSP00000378260:P194L;ENSP00000427093:P90L	ENSP00000251943:P90L	P	+	2	0	ALG13	110838108	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.314000	0.19432	0.063000	0.16370	-1.178000	0.01721	CCT		0.473	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		6	70	0	0	0	1	0	6	70					T	110951452	C	T	110951452	3	4	153	1	0	0	0	0	1	0	0	0	515	681	24	2	737	2	ALG13	23	110951452	Missense_Mutation	SNP	C	TCGA-E8-A437-01A-12D-A23U-08	73020058	110951452	44319108	16	2675											
DISP1	84976	broad.mit.edu	37	1	223176363	223176363	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:223176363T>G	ENST00000284476.6	+	8	1788	c.1624T>G	c.(1624-1626)Tcc>Gcc	p.S542A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	542	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTGATTGTTTCCTATTTTCT	0.353																																						uc001hnu.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1624-1626)Tcc>Gcc		Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.							145	136	139					1																	223176363		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176363T>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1624T>G	1.37:g.223176363T>G	ENSP00000284476:p.Ser542Ala		Somatic					p.S542A	NM_032890	NP_116279	WXS	Illumina GAIIx	Phase_I	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	9	1950	+			542			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1624T>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	8.358	0.832427	0.16820	.	.	ENSG00000154309	ENST00000284476	D	0.86366	-2.11	5.84	5.84	0.93424	Sterol-sensing domain (1);	0.046301	0.85682	D	0.000000	T	0.74160	0.3680	N	0.04148	-0.265	0.54753	D	0.999989	P	0.39782	0.688	B	0.40444	0.329	T	0.75150	-0.3419	10	0.08837	T	0.75	-47.4513	16.2087	0.82144	0.0:0.0:0.0:1.0	.	542	Q96F81	DISP1_HUMAN	A	542	ENSP00000284476:S542A	ENSP00000284476:S542A	S	+	1	0	DISP1	221242986	1.000000	0.71417	0.940000	0.37924	0.995000	0.86356	5.021000	0.64072	2.233000	0.73108	0.482000	0.46254	TCC		0.353	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		21	43	0	0	0	1	0	21	43					G	223176363	T	G	223176363	3	3	154	1	0	0	0	0	1	0	0	0	4539	1783	62	5	1650	5	DISP1	1	223176363	Missense_Mutation	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08		223176363	26074258	1	2676											
GNPAT	8443	broad.mit.edu	37	1	231411174	231411174	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:231411174T>A	ENST00000366647.4	+	14	2036	c.1867T>A	c.(1867-1869)Tta>Ata	p.L623I	GNPAT_ENST00000366646.3_Missense_Mutation_p.L562I|GNPAT_ENST00000469332.1_3'UTR	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	623					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.L623V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTATGATGTATTATCTTCTGA	0.428																																						uc001hup.4																			1	Substitution - Missense(1)	p.L623V(2)	ovary(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(1867-1869)Tta>Ata		Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.							113	108	110					1																	231411174		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231411174T>A	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1867T>A	1.37:g.231411174T>A	ENSP00000355607:p.Leu623Ile		Somatic				GNPAT_uc009xfp.3_Missense_Mutation_p.L562I	p.L623I	NM_014236	NP_055051	WXS	Illumina GAIIx	Phase_I	O15228	GNPAT_HUMAN			13	2073	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	623					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1867T>A	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446733	0.43429	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	T;T	0.71698	-0.59;-0.55	5.47	-2.79	0.05841	.	0.079660	0.49305	D	0.000152	T	0.77471	0.4135	M	0.65498	2.005	0.35204	D	0.774522	D;D	0.67145	0.995;0.996	P;D	0.67231	0.904;0.95	T	0.79664	-0.1709	10	0.44086	T	0.13	.	13.0603	0.59003	0.0:0.6585:0.0:0.3415	.	562;623	B4DNM9;O15228	.;GNPAT_HUMAN	I	623;562	ENSP00000355607:L623I;ENSP00000355606:L562I	ENSP00000355606:L562I	L	+	1	2	GNPAT	229477797	0.008000	0.16893	0.008000	0.14137	0.185000	0.23345	0.042000	0.13949	-0.435000	0.07264	0.377000	0.23210	TTA		0.428	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			4	61	0	0	0	1	0	4	61					A	231411174	T	A	231411174	3	1	154	1	0	0	0	0	1	0	0	0	6541	1490	52	5	1921	5	GNPAT	1	231411174	Missense_Mutation	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08	8234811	231411174	17839447	2	2677											
ADCK2	90956	broad.mit.edu	37	7	140394532	140394532	+	Silent	SNP	C	C	T			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:140394532C>T	ENST00000072869.4	+	8	1988	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000476279.1_5'Flank|NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000204307.5_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000482954.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	604	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGGCCGCTCACTGGACCCCAA	0.582																																						uc003vvy.1																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1810-1812)Ctg>Ttg		Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.							152	132	138					7																	140394532		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394532C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1810C>T	7.37:g.140394532C>T			Somatic				ADCK2_uc003vvz.3_Intron|NDUFB2_uc003vwa.3_5'Flank|NDUFB2_uc010lnl.3_5'Flank	p.L604L	NM_052853	NP_443085	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			7	1988	+	Melanoma(164;0.00956)		604			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1810C>T	CCDS5861.1																																																																																				0.582	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		19	44	0	0	0	1	0	19	44					T	140394532	C	T	140394532	2	4	154	1	0	0	0	0	0	0	0	1	289	564	20	2		2	ADCK2	7	140394532	Silent	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		140394532	18744131	3	2678											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	42	0	0	0	1	0	21	42					T	140453136	A	T	140453136	3	4	154	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-E8-A44K-01A-21D-A23U-08	58604	140453136	18685527	4	2679											
BNC2	54796	broad.mit.edu	37	9	16435992	16435992	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:16435992C>A	ENST00000380672.4	-	6	2257	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C	BNC2_ENST00000545497.1_Missense_Mutation_p.G639C|BNC2_ENST00000380666.2_Missense_Mutation_p.G734C|BNC2_ENST00000380667.2_Missense_Mutation_p.G667C	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATTCCTCGCCCAGTTTGGGC	0.512																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2200-2202)Ggc>Tgc		Homo sapiens basonuclin 2 (BNC2), mRNA.							103	91	95					9																	16435992		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435992C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2200G>T	9.37:g.16435992C>A	ENSP00000370047:p.Gly734Cys		Somatic				BNC2_uc011lmw.2_Missense_Mutation_p.G639C|BNC2_uc003zmm.3_Missense_Mutation_p.G692C|BNC2_uc003zmq.1_Missense_Mutation_p.G748C|BNC2_uc003zmr.1_Missense_Mutation_p.G771C|BNC2_uc003zmp.1_Missense_Mutation_p.G762C|BNC2_uc010mij.1_Missense_Mutation_p.G656C|BNC2_uc011lmv.2_Missense_Mutation_p.G560C|BNC2_uc003zmo.1_Missense_Mutation_p.G656C|BNC2_uc003zmj.3_Missense_Mutation_p.G499C|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G499C|BNC2_uc003zmn.1_Missense_Mutation_p.G499C	p.G734C	NM_017637	NP_060107	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	2340	-			734						Missense_Mutation	SNP	ENST00000380672.4	37	c.2200G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439681	0.12104	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.44881	1.53;0.91;1.52;1.54;1.54;1.51	5.56	4.59	0.56863	.	0.098588	0.64402	D	0.000001	T	0.17874	0.0429	N	0.01576	-0.805	0.40918	D	0.984286	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	T	0.07751	-1.0756	10	0.52906	T	0.07	-13.3074	11.1116	0.48237	0.4082:0.5918:0.0:0.0	.	639;667;734;560;734;691;734;639;499	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	C	734;127;691;667;639;560;734;734	ENSP00000370047:G734C;ENSP00000392212:G127C;ENSP00000408370:G691C;ENSP00000370042:G667C;ENSP00000444640:G639C;ENSP00000370041:G734C	ENSP00000370041:G734C	G	-	1	0	BNC2	16425992	0.998000	0.40836	0.467000	0.27180	0.795000	0.44927	4.286000	0.58995	2.618000	0.88619	0.650000	0.86243	GGC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		7	44	0	0	0	1	0	7	44					A	16435992	C	A	16435992	3	1	154	1	0	0	0	0	1	0	0	0	1475	623	22	4	1107	4	BNC2	9	16435992	Missense_Mutation	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		16435992	124777439	5	2680											
FANCG	2189	broad.mit.edu	37	9	35079179	35079179	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:35079179delT	ENST00000378643.3	-	2	635	c.144delA	c.(142-144)gaafs	p.E48fs	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	48					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTGAGCCCTTCCAGTGCAT	0.582			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1			yes	Rec		Fanconi anaemia G	9	9p13	2189	"Mis, N, F, S"	"Fanconi anemia, complementation group G"			L		"AML, leukemia"			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(142-144)gaafs	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.							42	36	38					9																	35079179		2202	4300	6502	SO:0001589	frameshift_variant	2189				DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079179delT	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.144delA	9.37:g.35079179delT	ENSP00000367910:p.Glu48fs		Somatic				FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Frame_Shift_Del_p.E48fs	p.E48fs	NM_004629	NP_004620	WXS	Illumina GAIIx	Phase_I	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	636	-			48						Frame_Shift_Del	DEL	ENST00000378643.3	37	c.144delA	CCDS6574.1																																																																																				0.582	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		2	4						2	4	---	---	---	---	-	35079179	T	-	35079179	7	5	154	1	0	1	0	1	0	0	0	0	5668	1606	56	0	1776	0	FANCG	9	35079179	Frame_Shift_Del	DEL	T	TCGA-E8-A44K-01A-21D-A23U-08	18643187	35079179	106134252	6	2681											
DEAF1	10522	broad.mit.edu	37	11	694809	694809	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr11:694809G>C	ENST00000382409.3	-	1	723	c.239C>G	c.(238-240)gCc>gGc	p.A80G	TMEM80_ENST00000397512.3_5'Flank|TMEM80_ENST00000608174.1_5'Flank|TMEM80_ENST00000397510.3_5'Flank|DEAF1_ENST00000338675.6_Missense_Mutation_p.A80G	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	80	Ala-rich.				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)		CAGGGCCTCGGCGCCCATGTC	0.771																																						uc001lqq.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(238-240)gCc>gGc		Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.							4	4	4					11																	694809		2032	3894	5926	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.chr11:694809G>C	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.239C>G	11.37:g.694809G>C	ENSP00000371846:p.Ala80Gly		Somatic				DEAF1_uc021qbn.1_Missense_Mutation_p.A80G|TMEM80_uc001lqr.3_5'Flank|TMEM80_uc001lqs.3_5'Flank|TMEM80_uc010qwi.1_5'Flank	p.A80G	NM_021008	NP_066288	WXS	Illumina GAIIx	Phase_I	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)	0	932	-		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)	80			Ala-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.239C>G	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800416	0.50315	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.72051	-0.62	2.64	2.64	0.31445	.	0.166245	0.39909	U	0.001231	T	0.53110	0.1776	N	0.24115	0.695	0.80722	D	1	B	0.23316	0.083	B	0.17979	0.02	T	0.50833	-0.8781	10	0.33141	T	0.24	-7.2059	10.9673	0.47421	0.0:0.0:1.0:0.0	.	80	O75398	DEAF1_HUMAN	G	80;80;66;3	ENSP00000371846:A80G	ENSP00000341902:A80G	A	-	2	0	DEAF1	684809	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.674000	0.83992	1.426000	0.47256	0.449000	0.29647	GCC		0.771	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		4	1	0	0	0	1	0	4	1					C	694809	G	C	694809	3	2	154	1	0	0	0	0	1	0	0	0	4380	1203	42	4	1506	4	DEAF1	11	694809	Missense_Mutation	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08		694809	134311707	7	2682											
HSF5	124535	broad.mit.edu	37	17	56557351	56557351	+	Silent	SNP	T	T	C			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr17:56557351T>C	ENST00000323777.3	-	2	937	c.828A>G	c.(826-828)gtA>gtG	p.V276V		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	276					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGAACATGTACAGATGTGG	0.468																																						uc002iwi.1																			0		p.S275Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(826-828)gtA>gtG		Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.							272	237	249					17																	56557351		2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557351T>C	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.828A>G	17.37:g.56557351T>C			Somatic					p.V276V	NM_001080439	NP_001073908	WXS	Illumina GAIIx	Phase_I	Q4G112	HSF5_HUMAN			1	952	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		276					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.828A>G	CCDS32690.1																																																																																				0.468	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		37	60	0	0	0	1	0	37	60					C	56557351	T	C	56557351	2	2	154	1	0	0	0	0	0	0	0	1	7399	1625	57	3		3	HSF5	17	56557351	Silent	SNP	T	TCGA-E8-A44K-01A-21D-A23U-08		56557351	24637859	8	2683											
RTN2	6253	broad.mit.edu	37	19	45998115	45998115	+	Silent	SNP	C	C	G			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:45998115C>G	ENST00000245923.4	-	3	463	c.228G>C	c.(226-228)ggG>ggC	p.G76G	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.G76G	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	76					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCTGCGGCCCCCGGAGCCCA	0.687																																						uc002pcb.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(226-228)ggG>ggC		Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.							18	23	21					19																	45998115		2202	4299	6501	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998115C>G	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.228G>C	19.37:g.45998115C>G			Somatic				RTN2_uc002pcc.3_Silent_p.G76G|RTN2_uc002pcd.3_Non-coding_Transcript	p.G76G	NM_005619	NP_005610	WXS	Illumina GAIIx	Phase_I	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	2	458	-		Ovarian(192;0.051)|all_neural(266;0.112)	76					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.228G>C	CCDS12665.1																																																																																				0.687	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		13	20	0	0	0	1	0	13	20					G	45998115	C	G	45998115	2	3	154	1	0	0	0	0	0	0	0	1	13726	610	22	4		4	RTN2	19	45998115	Silent	SNP	C	TCGA-E8-A44K-01A-21D-A23U-08		45998115	13130868	9	2684											
ZNF580	51157	broad.mit.edu	37	19	56153895	56153895	+	Silent	SNP	G	G	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:56153895G>A	ENST00000543039.1	+	1	478	c.21G>A	c.(19-21)cgG>cgA	p.R7R	ZNF581_ENST00000270451.5_5'Flank|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000325333.5_Silent_p.R7R|ZNF581_ENST00000588537.1_5'Flank|ZNF580_ENST00000545125.1_Silent_p.R7R	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	7	Pro-rich.				cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCGCCGCGGCCACCCCACC	0.627																																						uc002qlo.3																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(19-21)cgG>cgA		Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA.							14	17	16					19																	56153895		1796	3773	5569	SO:0001819	synonymous_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56153895G>A	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"Zinc fingers, C2H2-type"	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.21G>A	19.37:g.56153895G>A			Somatic				ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.R7R|ZNF580_uc010ygd.2_Silent_p.R7R|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank	p.R7R	NM_207115	NP_996998	WXS	Illumina GAIIx	Phase_I	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	191	+			7			Pro-rich.		B2RC05|Q9NPP7	Silent	SNP	ENST00000543039.1	37	c.21G>A	CCDS12931.1																																																																																				0.627	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		3	17	0	0	0	1	0	3	17					A	56153895	G	A	56153895	2	1	154	1	0	0	0	0	0	0	0	1	18009	1190	42	2		2	ZNF580	19	56153895	Silent	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08	10155780	56153895	2975088	10	2685											
TRIOBP	11078	broad.mit.edu	37	22	38120673	38120673	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr22:38120673G>A	ENST00000406386.3	+	7	2365	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	704					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCCAACGGGACGATCCCAG	0.582																																						uc003atr.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2110-2112)Gac>Aac		Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.							173	189	184					22																	38120673		1953	4151	6104	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120673G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2110G>A	22.37:g.38120673G>A	ENSP00000384312:p.Asp704Asn		Somatic				TRIOBP_uc003atu.3_Missense_Mutation_p.D532N|TRIOBP_uc003atq.1_Missense_Mutation_p.D704N|TRIOBP_uc003ats.1_Missense_Mutation_p.D532N	p.D704N	NM_001039141	NP_001034230	WXS	Illumina GAIIx	Phase_I	Q9H2D6	TARA_HUMAN			6	2381	+	Melanoma(58;0.0574)		704					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2110G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024542	0.35701	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26373	1.74	5.08	2.79	0.32731	.	.	.	.	.	T	0.23926	0.0579	L	0.45581	1.43	0.09310	N	1	B	0.33694	0.421	B	0.35470	0.203	T	0.13791	-1.0496	9	0.46703	T	0.11	.	9.6392	0.39828	0.0:0.0:0.6205:0.3795	.	704	Q9H2D6	TARA_HUMAN	N	704	ENSP00000384312:D704N	ENSP00000384312:D704N	D	+	1	0	TRIOBP	36450619	0.000000	0.05858	0.037000	0.18230	0.009000	0.06853	0.270000	0.18607	1.108000	0.41662	0.558000	0.71614	GAC		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			13	48	0	0	0	1	0	13	48					A	38120673	G	A	38120673	3	1	154	1	0	0	0	0	1	0	0	0	16550	1174	41	2	2128	2	TRIOBP	22	38120673	Missense_Mutation	SNP	G	TCGA-E8-A44K-01A-21D-A23U-08		38120673	13183893	11	2686											
PCYOX1L	78991	broad.mit.edu	37	5	148743769	148743769	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr5:148743769A>G	ENST00000274569.4	+	3	528	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.M66V	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	156					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGTTCATGAGGTAGGG	0.567																																					Ovarian(62;1136 1477 27277 27495)	uc003lqk.2																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(466-468)Atg>Gtg		Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.							112	111	112					5																	148743769		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148743769A>G		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.466A>G	5.37:g.148743769A>G	ENSP00000274569:p.Met156Val		Somatic				PCYOX1L_uc003lql.2_Missense_Mutation_p.M139V|PCYOX1L_uc010jgz.2_Missense_Mutation_p.M139V|PCYOX1L_uc003lqm.2_Missense_Mutation_p.M38V|PCYOX1L_uc003lqn.2_Missense_Mutation_p.M66V	p.M156V	NM_024028	NP_076933	WXS	Illumina GAIIx	Phase_I	Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	528	+			156					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.466A>G	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.292174	0.59976	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.14640	2.49;2.49	5.58	5.58	0.84498	Prenylcysteine lyase (1);	0.039092	0.85682	D	0.000000	T	0.33904	0.0879	L	0.61036	1.89	0.80722	D	1	D;D;P	0.59357	0.985;0.96;0.86	D;P;P	0.72338	0.977;0.569;0.447	T	0.01956	-1.1240	10	0.29301	T	0.29	-33.0071	15.7408	0.77894	1.0:0.0:0.0:0.0	.	38;66;156	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	V	156;66	ENSP00000274569:M156V;ENSP00000428512:M66V	ENSP00000274569:M156V	M	+	1	0	PCYOX1L	148723962	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.276000	0.78559	2.129000	0.65627	0.260000	0.18958	ATG		0.567	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		4	18	0	0	0	1	0	4	18					G	148743769	A	G	148743769	3	3	155	1	0	0	0	0	1	0	0	0	11609	217	8	3	476	3	PCYOX1L	5	148743769	Missense_Mutation	SNP	A	TCGA-E8-A44M-01A-21D-A23U-08		148743769	32171491	1	2687											
GIMAP6	474344	broad.mit.edu	37	7	150325517	150325517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E8-A44M-01A-21D-A23U-08	TCGA-E8-A44M-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ddf79b-b624-4341-8727-e72326c80f3d	ad3886e5-6597-41a8-a0b8-533186183119	g.chr7:150325517C>A	ENST00000328902.5	-	3	385	c.169G>T	c.(169-171)Gga>Tga	p.G57*	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	57	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCTGTTTCCTGTTGCACTC	0.537																																						uc022apv.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(379-381)Gga>Tga		Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.							272	275	274					7																	150325517		2203	4300	6503	SO:0001587	stop_gained	474344						GTP binding	g.chr7:150325517C>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"GTPases, IMAP"	21918	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 6"					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.169G>T	7.37:g.150325517C>A	ENSP00000330374:p.Gly57*		Somatic				GIMAP6_uc003whn.3_Nonsense_Mutation_p.G57*|GIMAP6_uc003whm.3_Intron	p.G127*	NM_001244072	NP_001231001	WXS	Illumina GAIIx	Phase_I	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	859	-			57					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Nonsense_Mutation	SNP	ENST00000328902.5	37	c.379G>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524587	0.85600	.	.	ENSG00000133561	ENST00000328902;ENST00000392862;ENST00000477013	.	.	.	4.29	4.29	0.51040	.	0.129021	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.1006	0.53780	0.0:1.0:0.0:0.0	.	.	.	.	X	57;118;57	.	ENSP00000330374:G57X	G	-	1	0	GIMAP6	149956450	1.000000	0.71417	0.988000	0.46212	0.511000	0.34104	5.538000	0.67193	2.243000	0.73865	0.561000	0.74099	GGA		0.537	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		53	235	0	0	0	1	0	53	235					A	150325517	C	A	150325517	4	1	155	1	0	0	0	0	0	1	0	0	6383	690	24	4	713	4	GIMAP6	7	150325517	Nonsense_Mutation	SNP	C	TCGA-E8-A44M-01A-21D-A23U-08		150325517	8813146	2	2688											
HIVEP3	59269	broad.mit.edu	37	1	41979174	41979174	+	Silent	SNP	G	G	A	rs141816288		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr1:41979174G>A	ENST00000372583.1	-	8	6603	c.5718C>T	c.(5716-5718)ccC>ccT	p.P1906P	HIVEP3_ENST00000429157.2_Silent_p.P1906P|HIVEP3_ENST00000372584.1_Silent_p.P1906P|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.P1906P	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1906					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)				TGCCAGAGGCGGGGGCATCTG	0.692													G|||	1	0.000199681	8e-04	0	5008	,	,		16948	0		0	False		,,,				2504	0					uc001cgz.4																			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.(5716-5718)ccC>ccT		Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.		G	,	0,4384		0,0,2192	15	18	17		5718,5718	-2.8	0.0	1	dbSNP_134	17	1,8575		0,1,4287	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	,	1906/2406,1906/2407	41979174	1,12959	2192	4288	6480	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41979174G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5718C>T	1.37:g.41979174G>A			Somatic				HIVEP3_uc001cha.4_Silent_p.P1906P|HIVEP3_uc001cgy.3_Non-coding_Transcript	p.P1906P	NM_024503	NP_078779	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			7	6931	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1906					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.5718C>T	CCDS463.1																																																																																				0.692	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		8	7	0	0	0	1	0	8	7					A	41979174	G	A	41979174	2	1	156	1	0	0	0	0	0	0	0	1	7188	1103	39	1		1	HIVEP3	1	41979174	Silent	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		41979174	207271447	1	2689											
SAMD9L	219285	broad.mit.edu	37	7	92760593	92760596	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr7:92760593_92760596delTCTT	ENST00000318238.4	-	5	5905_5908	c.4689_4692delAAGA	c.(4687-4692)gaaagafs	p.ER1563fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.ER1563fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.ER1563fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1563					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAAAGACACTCTTTCTATGTTCC	0.343																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4687-4692)gaaagafs		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.																																				SO:0001589	frameshift_variant	219285							g.chr7:92760593_92760596delTCTT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4689_4692delAAGA	7.37:g.92760593_92760596delTCTT	ENSP00000326247:p.Glu1563fs		Somatic				SAMD9L_uc003umj.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.E1563fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.E1563fs	p.E1563fs	NM_152703	NP_689916	WXS	Illumina GAIIx	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	5905_5908	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1563					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	ENST00000318238.4	37	c.4689_4692delAAGA	CCDS34681.1																																																																																				0.343	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		20	31						20	31	---	---	---	---	-	92760596	TCTT	-	92760593	7	5	156	1	0	1	0	1	0	0	0	0	13827	1548	54	0	66	0	SAMD9L	7	92760593	Frame_Shift_Del	DEL	TCTT	TCGA-EL-A3CL-01A-11D-A19J-08		92760593	66378070	2	2690											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	50	0	0	0	1	0	25	50					T	140453136	A	T	140453136	3	4	156	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CL-01A-11D-A19J-08	47692543	140453136	18685527	3	2691											
MRPL41	64975	broad.mit.edu	37	9	140446894	140446894	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr9:140446894C>T	ENST00000371443.5	+	2	1149	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	121					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CGGCTTCGAGCCCACACAGGA	0.602																																						uc004cnh.4																			0				breast(1)|lung(1)	2						c.(361-363)Ccc>Tcc		Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), nuclear gene encoding mitochondrial protein, mRNA.							31	28	29					9																	140446894		2202	4290	6492	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446894C>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"Mitochondrial ribosomal proteins / large subunits"	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.361C>T	9.37:g.140446894C>T	ENSP00000360498:p.Pro121Ser		Somatic				PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank|MRPL41_uc022bqj.1_Missense_Mutation_p.P121S	p.P121S	NM_032477	NP_115866	WXS	Illumina GAIIx	Phase_I	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	1	491	+	all_cancers(76;0.106)		121					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.361C>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465754	0.84425	.	.	ENSG00000182154	ENST00000371443	.	.	.	4.82	4.82	0.62117	.	0.338856	0.31123	N	0.008207	T	0.65196	0.2668	M	0.78223	2.4	0.43462	D	0.995662	B	0.34103	0.437	B	0.32805	0.153	T	0.71852	-0.4467	9	0.87932	D	0	.	17.0619	0.86549	0.0:1.0:0.0:0.0	.	121	Q8IXM3	RM41_HUMAN	S	121	.	ENSP00000360498:P121S	P	+	1	0	MRPL41	139566715	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	4.107000	0.57811	2.509000	0.84616	0.561000	0.74099	CCC		0.602	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		10	26	0	0	0	1	0	10	26					T	140446894	C	T	140446894	3	4	156	1	0	0	0	0	1	0	0	0	9805	739	26	2	363	2	MRPL41	9	140446894	Missense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		140446894	766537	4	2692											
AKAP6	9472	broad.mit.edu	37	14	33291666	33291666	+	Silent	SNP	A	A	G			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr14:33291666A>G	ENST00000280979.4	+	13	4817	c.4647A>G	c.(4645-4647)acA>acG	p.T1549T	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1549					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAGAAAAGACATTCACTGGCA	0.413																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.3																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4645-4647)acA>acG		Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.							112	118	116					14																	33291666		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291666A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4647A>G	14.37:g.33291666A>G			Somatic					p.T1549T	NM_004274	NP_004265	WXS	Illumina GAIIx	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	12	4817	+	Breast(36;0.0388)|Prostate(35;0.15)		1549					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.4647A>G	CCDS9644.1																																																																																				0.413	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	123	0	0	0	1	0	8	123					G	33291666	A	G	33291666	2	3	156	1	0	0	0	0	0	0	0	1	455	204	8	3		3	AKAP6	14	33291666	Silent	SNP	A	TCGA-EL-A3CL-01A-11D-A19J-08		33291666	74057874	5	2693											
ZFHX3	463	broad.mit.edu	37	16	72827620	72827621	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr16:72827620_72827621insT	ENST00000268489.5	-	9	9632_9633	c.8960_8961insA	c.(8959-8961)aagfs	p.K2987fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.K2073fs|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2987					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)				GAACGACTCTCTTTGGCAGTCC	0.465																																						uc002fck.3																			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.(8959-8961)aagfs		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.																																				SO:0001589	frameshift_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.chr16:72827620_72827621insT	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8961dupA	16.37:g.72827623_72827623dupT	ENSP00000268489:p.Lys2987fs		Somatic				ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.K2073fs	p.K2987fs	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			8	9633_9634	-		Ovarian(137;0.13)	2987					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.8960_8961insA	CCDS10908.1																																																																																				0.465	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		44	90						44	90	---	---	---	---	T	72827621	-	T	72827620	7	5	156	1	0	1	1	0	0	0	0	0	17631	912	32	0	2158	0	ZFHX3	16	72827620	Frame_Shift_Ins	INS	-	TCGA-EL-A3CL-01A-11D-A19J-08		72827620	17527133	6	2694											
KAT2A	2648	broad.mit.edu	37	17	40269530	40269530	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr17:40269530C>T	ENST00000225916.5	-	10	1566	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	505	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				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						AGTGAGTTGCCGATGACATGG	0.637																																						uc002hyx.2																			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.(1513-1515)Ggc>Agc		Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.							31	29	30					17																	40269530		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.chr17:40269530C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1513G>A	17.37:g.40269530C>T	ENSP00000225916:p.Gly505Ser		Somatic					p.G505S	NM_021078	NP_066564	WXS	Illumina GAIIx	Phase_I	Q92830	KAT2A_HUMAN			9	1573	-			505			N-acetyltransferase.		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1513G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567978	0.86439	.	.	ENSG00000108773	ENST00000225916	T	0.04970	3.52	4.8	4.8	0.61643	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.055629	0.64402	D	0.000001	T	0.12561	0.0305	L	0.60067	1.865	0.80722	D	1	D	0.55172	0.97	P	0.46172	0.506	T	0.02288	-1.1182	10	0.51188	T	0.08	-22.7713	17.8781	0.88831	0.0:1.0:0.0:0.0	.	505	Q92830	KAT2A_HUMAN	S	505	ENSP00000225916:G505S	ENSP00000225916:G505S	G	-	1	0	KAT2A	37523056	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.818000	0.86416	2.223000	0.72356	0.561000	0.74099	GGC		0.637	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		21	29	0	0	0	1	0	21	29					T	40269530	C	T	40269530	3	4	156	1	0	0	0	0	1	0	0	0	7981	652	23	1	1036	1	KAT2A	17	40269530	Missense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		40269530	40925680	7	2695											
CNN2	1265	broad.mit.edu	37	19	1037875	1037875	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr19:1037875C>G	ENST00000263097.4	+	7	1269	c.906C>G	c.(904-906)taC>taG	p.Y302*	AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Nonsense_Mutation_p.Y263*|CNN2_ENST00000565096.2_Nonsense_Mutation_p.Y291*|ABCA7_ENST00000263094.6_5'Flank|CNN2_ENST00000562958.2_Nonsense_Mutation_p.Y323*	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	302					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		ATCCCCCTTACTACCAGGAGG	0.602																																						uc010xgc.2																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(967-969)taC>taG		Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.							30	37	35					19																	1037875		2072	4118	6190	SO:0001587	stop_gained	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037875C>G	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.906C>G	19.37:g.1037875C>G	ENSP00000263097:p.Tyr302*		Somatic				ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqu.3_Nonsense_Mutation_p.Y302*|CNN2_uc002lqv.3_Nonsense_Mutation_p.Y263*|CNN2_uc010xgb.2_Nonsense_Mutation_p.Y291*|ABCA7_uc010dsa.3_5'Flank	p.Y323*	NM_004368	NP_004359	WXS	Illumina GAIIx	Phase_I	Q99439	CNN2_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)	6	1332	+		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)	302					A5D8U8|A6NFI4|D6W5X9|Q92578	Nonsense_Mutation	SNP	ENST00000263097.4	37	c.969C>G	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	c	19.49	3.838355	0.71373	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	.	.	.	4.5	3.4	0.38934	.	0.623411	0.16191	N	0.225361	.	.	.	.	.	.	0.32660	N	0.518253	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	6.6303	0.22853	0.0:0.8665:0.0:0.1335	.	.	.	.	X	302;263;281	.	ENSP00000263097:Y302X	Y	+	3	2	CNN2	988875	0.562000	0.26586	0.451000	0.26982	0.495000	0.33615	0.480000	0.22244	2.330000	0.79161	0.556000	0.70494	TAC		0.602	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		27	62	0	0	0	1	0	27	62					G	1037875	C	G	1037875	4	3	156	1	0	0	0	0	0	1	0	0	3610	576	20	4	932	4	CNN2	19	1037875	Nonsense_Mutation	SNP	C	TCGA-EL-A3CL-01A-11D-A19J-08		1037875	58091108	8	2696											
GATA5	140628	broad.mit.edu	37	20	61039965	61039965	+	Missense_Mutation	SNP	G	G	A	rs202078502		TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr20:61039965G>A	ENST00000252997.2	-	7	1182	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	374					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			GCTTGGGGCCGTGGAGGGGAA	0.677													G|||	0	0	0	0	5008	,	,		12948	0		0	False		,,,				2504	0					uc002ycx.1																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(1120-1122)aCg>aTg		Homo sapiens GATA binding protein 5 (GATA5), mRNA.							29	31	30					20																	61039965		2203	4300	6503	SO:0001583	missense	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61039965G>A	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"GATA zinc finger domain containing"	15802	protein-coding gene	gene with protein product		611496	"GATA-binding protein 5"			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.1121C>T	20.37:g.61039965G>A	ENSP00000252997:p.Thr374Met		Somatic					p.T374M	NM_080473	NP_536721	WXS	Illumina GAIIx	Phase_I	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		6	1183	-	Breast(26;2.05e-08)		374					D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	c.1121C>T	CCDS13499.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	7.575	0.667582	0.14710	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.98345	-4.88	5.27	3.33	0.38152	.	0.898209	0.09526	N	0.790155	D	0.94489	0.8226	L	0.38175	1.15	0.09310	N	1	B	0.30851	0.297	B	0.15052	0.012	D	0.89155	0.3526	10	0.46703	T	0.11	-19.1417	3.7609	0.08603	0.1524:0.1296:0.5848:0.1332	.	374	Q9BWX5	GATA5_HUMAN	M	374;394;374	ENSP00000252997:T374M	ENSP00000252997:T374M	T	-	2	0	GATA5	60473360	0.000000	0.05858	0.001000	0.08648	0.508000	0.34012	0.848000	0.27710	0.617000	0.30160	0.555000	0.69702	ACG		0.677	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		3	31	0	0	0	1	0	3	31					A	61039965	G	A	61039965	3	1	156	1	0	0	0	0	1	0	0	0	6257	1145	40	1	76	1	GATA5	20	61039965	Missense_Mutation	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		61039965	1985555	9	2697											
DSCAM	1826	broad.mit.edu	37	21	41711101	41711101	+	Silent	SNP	G	G	A			TCGA-EL-A3CL-01A-11D-A19J-08	TCGA-EL-A3CL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803f5ae9-126f-4e21-b3a0-881513ff137d	6ecb9b78-a40b-4bc9-b4cb-6687daeed335	g.chr21:41711101G>A	ENST00000400454.1	-	7	1929	c.1452C>T	c.(1450-1452)tgC>tgT	p.C484C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	484	Ig-like C2-type 5.				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)				TGTTGGCAGTGCAGCGGTAGA	0.547																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.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.(1450-1452)tgC>tgT		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							75	79	78					21																	41711101		2038	4189	6227	SO:0001819	synonymous_variant	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.chr21:41711101G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1452C>T	21.37:g.41711101G>A			Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.C484C	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			6	1904	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	484			Ig-like C2-type 5.		O60468	Silent	SNP	ENST00000400454.1	37	c.1452C>T	CCDS42929.1																																																																																				0.547	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		22	44	0	0	0	1	0	22	44					A	41711101	G	A	41711101	2	1	156	1	0	0	0	0	0	0	0	1	4768	1311	46	2		2	DSCAM	21	41711101	Silent	SNP	G	TCGA-EL-A3CL-01A-11D-A19J-08		41711101	6418794	10	2698											
IL17RC	84818	broad.mit.edu	37	3	9965966	9965966	+	Silent	SNP	C	C	T			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr3:9965966C>T	ENST00000295981.3	+	9	1244	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	IL17RC_ENST00000383812.4_Silent_p.L256L|IL17RC_ENST00000455057.1_Silent_p.L256L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Silent_p.L271L|IL17RC_ENST00000403601.3_Silent_p.L271L|IL17RC_ENST00000416074.2_Silent_p.L127L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	342					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCCCTGCCTCTGTATTCAGG	0.507																																						uc003bua.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1024-1026)ctC>ctT		Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.							76	67	70					3																	9965966		2203	4300	6503	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9965966C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1026C>T	3.37:g.9965966C>T			Somatic				CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.L246L|IL17RC_uc003btz.3_Silent_p.L271L|IL17RC_uc011atp.2_Silent_p.L127L|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.L271L|IL17RC_uc010hcu.3_Silent_p.L271L|IL17RC_uc003bub.3_Silent_p.L256L|IL17RC_uc010hcv.3_Silent_p.L256L|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.L256L	p.L342L	NM_153461	NP_703191	WXS	Illumina GAIIx	Phase_I	Q8NAC3	I17RC_HUMAN			8	1244	+			342					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.1026C>T	CCDS2590.1																																																																																				0.507	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		3	17	0	0	0	1	0	3	17					T	9965966	C	T	9965966	2	4	157	1	0	0	0	0	0	0	0	1	7641	900	32	2		2	IL17RC	3	9965966	Silent	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		9965966	188056464	1	2699											
RAD54L2	23132	broad.mit.edu	37	3	51664942	51664942	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr3:51664942C>A	ENST00000409535.2	+	6	945	c.820C>A	c.(820-822)Cat>Aat	p.H274N	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	274						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)		TGTGAAACCTCATCAGGTACA	0.512																																						uc011bdt.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(820-822)Cat>Aat		Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.							82	72	76					3																	51664942		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51664942C>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.820C>A	3.37:g.51664942C>A	ENSP00000386520:p.His274Asn		Somatic				RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR	p.H274N	NM_015106	NP_055921	WXS	Illumina GAIIx	Phase_I	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	5	945	+			274					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.820C>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.127664|5.127664	0.94473|0.94473	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535|ENST00000432863	D|.	0.95171|.	-3.63|.	6.03|6.03	6.03|6.03	0.97812|0.97812	DEAD-like helicase (1);SNF2-related (1);|.	0.045698|.	0.85682|.	D|.	0.000000|.	D|.	0.88489|.	0.6450|.	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.91112|.	0.4923|.	10|.	0.87932|.	D|.	0|.	-4.887|-4.887	19.545|19.545	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	274|.	Q9Y4B4|.	ARIP4_HUMAN|.	N|X	274|102	ENSP00000386520:H274N|.	ENSP00000386520:H274N|.	H|S	+|+	1|2	0|0	RAD54L2|RAD54L2	51639982|51639982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.512	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		10	26	0	0	0	1	0	10	26					A	51664942	C	A	51664942	3	1	157	1	0	0	0	0	1	0	0	0	12994	826	29	4	838	4	RAD54L2	3	51664942	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08	41698976	51664942	146357488	2	2700											
SNX2	6643	broad.mit.edu	37	5	122131017	122131017	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr5:122131017C>A	ENST00000379516.2	+	2	273	c.165C>A	c.(163-165)aaC>aaA	p.N55K	SNX2_ENST00000514949.1_5'UTR|snoU13_ENST00000516486.1_RNA	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	55					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	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)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTAGTGCAAACTCCAATGGCC	0.353																																						uc003kte.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(163-165)aaC>aaA		Homo sapiens sorting nexin 2 (SNX2), mRNA.							157	156	156					5																	122131017		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122131017C>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.165C>A	5.37:g.122131017C>A	ENSP00000368831:p.Asn55Lys		Somatic				SNX2_uc011cwn.2_5'UTR	p.N55K	NM_003100	NP_003091	WXS	Illumina GAIIx	Phase_I	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	1	214	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	55					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.165C>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	C	8.452	0.853289	0.17106	.	.	ENSG00000205302	ENST00000379516;ENST00000505934	T;T	0.39406	1.08;1.08	5.75	1.74	0.24563	.	0.147179	0.64402	D	0.000007	T	0.41627	0.1167	L	0.44542	1.39	0.80722	D	1	P	0.49696	0.927	P	0.57244	0.816	T	0.41770	-0.9490	10	0.05833	T	0.94	-23.8746	9.5568	0.39343	0.0:0.573:0.0:0.427	.	55	O60749	SNX2_HUMAN	K	55	ENSP00000368831:N55K;ENSP00000422413:N55K	ENSP00000368831:N55K	N	+	3	2	SNX2	122158916	0.999000	0.42202	1.000000	0.80357	0.955000	0.61496	0.708000	0.25719	0.310000	0.22990	0.491000	0.48974	AAC		0.353	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		4	85	0	0	0	1	0	4	85					A	122131017	C	A	122131017	3	1	157	1	0	0	0	0	1	0	0	0	14891	564	20	4	171	4	SNX2	5	122131017	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		122131017	58784243	3	2701											
RIOK1	83732	broad.mit.edu	37	6	7393347	7393347	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr6:7393347G>C	ENST00000379834.2	+	2	594	c.87G>C	c.(85-87)ttG>ttC	p.L29F		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	29							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L22F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ACAGAGACTTGAAGACAGTCA	0.333																																						uc003mxn.3																			1	Substitution - Missense(1)	p.L22F(1)	lung(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(85-87)ttG>ttC		Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.							99	94	95					6																	7393347		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393347G>C	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.87G>C	6.37:g.7393347G>C	ENSP00000369162:p.Leu29Phe		Somatic				RIOK1_uc003mxm.1_5'UTR	p.L29F	NM_031480	NP_694550	WXS	Illumina GAIIx	Phase_I	Q9BRS2	RIOK1_HUMAN			1	261	+	Ovarian(93;0.0418)		29					B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.87G>C	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023583	0.19433	.	.	ENSG00000124784	ENST00000379834	T	0.05925	3.37	4.77	3.89	0.44902	.	0.899723	0.09272	N	0.825042	T	0.01523	0.0049	N	0.13043	0.29	0.09310	N	1	B	0.29716	0.255	B	0.27796	0.083	T	0.47774	-0.9091	10	0.49607	T	0.09	0.0	9.2529	0.37566	0.1024:0.0:0.8976:0.0	.	29	Q9BRS2	RIOK1_HUMAN	F	29	ENSP00000369162:L29F	ENSP00000369162:L29F	L	+	3	2	RIOK1	7338346	0.958000	0.32768	0.007000	0.13788	0.009000	0.06853	1.608000	0.36847	1.123000	0.41961	0.655000	0.94253	TTG		0.333	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		4	46	0	0	0	1	0	4	46					C	7393347	G	C	7393347	3	2	157	1	0	0	0	0	1	0	0	0	13377	1281	45	4	93	4	RIOK1	6	7393347	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		7393347	163721720	4	2702											
SYCP2L	221711	broad.mit.edu	37	6	10894210	10894210	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr6:10894210A>T	ENST00000283141.6	+	3	485	c.189A>T	c.(187-189)ttA>ttT	p.L63F	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	63						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTCTTCTATTATACCGTCTTG	0.294																																						uc003mzo.3																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(187-189)ttA>ttT		Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.							39	38	38					6																	10894210		1811	4068	5879	SO:0001583	missense	221711					nucleus		g.chr6:10894210A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.189A>T	6.37:g.10894210A>T	ENSP00000283141:p.Leu63Phe		Somatic				SYCP2L_uc011dim.1_Non-coding_Transcript	p.L63F	NM_001040274	NP_001035364	WXS	Illumina GAIIx	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		2	485	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	63					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.189A>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	A	2.909	-0.225696	0.06022	.	.	ENSG00000153157	ENST00000283141	T	0.23147	1.92	5.41	-3.46	0.04767	.	0.440276	0.18153	N	0.150023	T	0.04452	0.0122	L	0.35723	1.085	0.23765	N	0.996906	P	0.38078	0.617	B	0.32022	0.139	T	0.22556	-1.0213	10	0.66056	D	0.02	-6.9208	2.173	0.03854	0.2317:0.1259:0.3967:0.2457	.	63	Q5T4T6	SYC2L_HUMAN	F	63	ENSP00000283141:L63F	ENSP00000283141:L63F	L	+	3	2	SYCP2L	11002196	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.083000	0.03397	-0.613000	0.05694	0.459000	0.35465	TTA		0.294	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		7	24	0	0	0	1	0	7	24					T	10894210	A	T	10894210	3	4	157	1	0	0	0	0	1	0	0	0	15430	446	16	5	199	5	SYCP2L	6	10894210	Missense_Mutation	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08	3500863	10894210	160220857	5	2703											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	44	0	0	0	1	0	17	44					T	140453136	A	T	140453136	3	4	157	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08		140453136	18685527	6	2704											
SLC35D2	11046	broad.mit.edu	37	9	99113432	99113432	+	Silent	SNP	G	G	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr9:99113432G>A	ENST00000253270.7	-	6	503	c.441C>T	c.(439-441)atC>atT	p.I147I	SLC35D2_ENST00000375257.1_Silent_p.I147I|SLC35D2_ENST00000375259.4_Silent_p.I147I|SLC35D2_ENST00000482643.1_5'UTR	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	147					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				CACTGAGGATGATGTTGAGTG	0.353																																						uc004awc.3																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(439-441)atC>atT		Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.							129	116	120					9																	99113432		2203	4300	6503	SO:0001819	synonymous_variant	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99113432G>A	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"Solute carriers"	20799	protein-coding gene	gene with protein product		609182	"solute carrier family 35, member D2"			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.441C>T	9.37:g.99113432G>A			Somatic				SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.I147I	p.I147I	NM_007001	NP_008932	WXS	Illumina GAIIx	Phase_I	Q76EJ3	S35D2_HUMAN			5	517	-		Acute lymphoblastic leukemia(62;0.0167)	147					O95454|Q498C1|Q75W21|Q7Z5X5	Silent	SNP	ENST00000253270.7	37	c.441C>T	CCDS6717.1																																																																																				0.353	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			14	23	0	0	0	1	0	14	23					A	99113432	G	A	99113432	2	1	157	1	0	0	0	0	0	0	0	1	14582	1280	45	2		2	SLC35D2	9	99113432	Silent	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		99113432	42099999	7	2705											
ABCC2	1244	broad.mit.edu	37	10	101558994	101558994	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr10:101558994G>A	ENST00000370449.4	+	8	1011	c.898G>A	c.(898-900)Ggg>Agg	p.G300R		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	300					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AAAGAAGTCTGGGACCAAAAA	0.418																																						uc001kqf.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(898-900)Ggg>Agg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						175	192	187					10																	101558994		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101558994G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.898G>A	10.37:g.101558994G>A	ENSP00000359478:p.Gly300Arg		Somatic					p.G300R	NM_000392	NP_000383	WXS	Illumina GAIIx	Phase_I	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	7	1037	+		Colorectal(252;0.234)	300					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.898G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743841	0.15642	.	.	ENSG00000023839	ENST00000370449	D	0.89196	-2.48	5.95	3.14	0.36123	ABC transporter, transmembrane domain, type 1 (1);	0.578005	0.19997	N	0.101425	D	0.84497	0.5485	L	0.56769	1.78	0.18873	N	0.999985	B	0.09022	0.002	B	0.06405	0.002	T	0.66937	-0.5797	10	0.15952	T	0.53	-0.0376	11.0948	0.48137	0.1985:0.0:0.8015:0.0	.	300	Q92887	MRP2_HUMAN	R	300	ENSP00000359478:G300R	ENSP00000359478:G300R	G	+	1	0	ABCC2	101548984	0.012000	0.17670	0.014000	0.15608	0.306000	0.27790	1.995000	0.40767	0.429000	0.26202	0.561000	0.74099	GGG		0.418	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		22	165	0	0	0	1	0	22	165					A	101558994	G	A	101558994	3	1	157	1	0	0	0	0	1	0	0	0	53	1348	47	2	928	2	ABCC2	10	101558994	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		101558994	33975753	8	2706											
ABCC8	6833	broad.mit.edu	37	11	17432134	17432134	+	Silent	SNP	G	G	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr11:17432134G>A	ENST00000389817.3	-	22	2691	c.2623C>T	c.(2623-2625)Ctg>Ttg	p.L875L	ABCC8_ENST00000302539.4_Silent_p.L876L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	875	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCCCGGAGCAGCTCAAGGATG	0.562																																						uc001mnc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2623-2625)Ctg>Ttg		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						146	129	135					11																	17432134		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17432134G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2623C>T	11.37:g.17432134G>A			Somatic					p.L875L	NM_000352	NP_000343	WXS	Illumina GAIIx	Phase_I	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	21	2749	-			875			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.2623C>T	CCDS31437.1																																																																																				0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		6	83	0	0	0	1	0	6	83					A	17432134	G	A	17432134	2	1	157	1	0	0	0	0	0	0	0	1	58	962	34	2		2	ABCC8	11	17432134	Silent	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		17432134	117574382	9	2707											
DRAM1	55332	broad.mit.edu	37	12	102314992	102314992	+	Splice_Site	SNP	A	A	G			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr12:102314992A>G	ENST00000258534.8	+	7	1111		c.e7-1		DRAM1_ENST00000544152.1_Splice_Site|RP11-512N21.3_ENST00000551918.1_RNA	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TTTTAAAAATAGAGTGTCACC	0.373																																						uc001tix.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.e7-2		Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA.							118	111	113					12																	102314992		1836	4089	5925	SO:0001630	splice_region_variant	55332				apoptosis|autophagy	integral to membrane|lysosomal membrane		g.chr12:102314992A>G	BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"damage-regulated autophagy modulator"	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.673-1A>G	12.37:g.102314992A>G			Somatic				DRAM1_uc010svv.2_Splice_Site_p.S115_splice	p.S225_splice	NM_018370	NP_060840	WXS	Illumina GAIIx	Phase_I	Q8N682	DRAM1_HUMAN			7	1136	+			225					B7Z4T0|Q7L3E3|Q9NUN1	Splice_Site	SNP	ENST00000258534.8	37	c.673_splice	CCDS41823.1	.	.	.	.	.	.	.	.	.	.	A	8.244	0.807564	0.16467	.	.	ENSG00000136048	ENST00000258534;ENST00000544152	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4396	0.50090	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DRAM1	100839123	0.998000	0.40836	0.948000	0.38648	0.088000	0.18126	4.816000	0.62642	1.927000	0.55829	0.519000	0.50382	.		0.373	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370	Intron	6	87	0	0	0	1	0	6	87					G	102314992	A	G	102314992	5	3	157	1	0	0	0	0	0	0	1	0	4753	434	15	3	697	3	DRAM1	12	102314992	Splice_Site	SNP	A	TCGA-EL-A3CM-01A-11D-A19J-08		102314992	31536903	10	2708											
CIT	11113	broad.mit.edu	37	12	120263094	120263094	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr12:120263094C>T	ENST00000261833.7	-	8	884	c.832G>A	c.(832-834)Ggc>Agc	p.G278S	CIT_ENST00000392521.2_Missense_Mutation_p.G278S	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCGTAGGTGCCTTTTCCATCC	0.527																																						uc001txj.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(832-834)Ggc>Agc		Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.							134	119	124					12																	120263094		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr12:120263094C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.832G>A	12.37:g.120263094C>T	ENSP00000261833:p.Gly278Ser		Somatic				CIT_uc001txi.2_Missense_Mutation_p.G278S	p.G278S	NM_001206999	NP_001193928	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	7	888	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	278			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.832G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	7.470	0.646425	0.14451	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.63417	-0.04;-0.04	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.363634	0.26007	N	0.026907	T	0.47820	0.1466	N	0.17474	0.49	0.35615	D	0.808952	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.011	T	0.52881	-0.8516	10	0.44086	T	0.13	.	14.6413	0.68726	0.1455:0.8545:0.0:0.0	.	278;278	Q2M5E1;O14578	.;CTRO_HUMAN	S	278	ENSP00000376306:G278S;ENSP00000261833:G278S	ENSP00000261833:G278S	G	-	1	0	CIT	118747477	0.560000	0.26570	0.539000	0.28077	0.025000	0.11179	1.727000	0.38095	2.692000	0.91855	0.655000	0.94253	GGC		0.527	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	74	0	0	0	1	0	6	74					T	120263094	C	T	120263094	3	4	157	1	0	0	0	0	1	0	0	0	3438	681	24	2	5411	2	CIT	12	120263094	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08	17948102	120263094	13588801	11	2709											
KIF23	9493	broad.mit.edu	37	15	69708349	69708349	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr15:69708349C>T	ENST00000260363.4	+	2	145	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	KIF23_ENST00000395392.2_Missense_Mutation_p.R10W|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|KIF23_ENST00000352331.4_Missense_Mutation_p.R10W|KIF23_ENST00000559279.1_Missense_Mutation_p.R10W	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	10					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TAAGACACCCCGGAAACCTAC	0.363																																						uc002asb.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(28-30)Cgg>Tgg		Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.							67	67	67					15																	69708349		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69708349C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.28C>T	15.37:g.69708349C>T	ENSP00000260363:p.Arg10Trp		Somatic				KIF23_uc002asc.3_Missense_Mutation_p.R10W|KIF23_uc010bii.3_5'UTR|KIF23_uc010bih.2_Non-coding_Transcript	p.R10W	NM_138555	NP_612565	WXS	Illumina GAIIx	Phase_I	Q02241	KIF23_HUMAN			1	206	+			10			Kinesin-motor.		Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.28C>T	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903646	0.33628	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	T;T;T	0.76060	-0.99;-0.96;-0.99	4.74	2.42	0.29668	.	0.052833	0.85682	D	0.000000	T	0.76644	0.4016	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.71656	0.903;0.974	T	0.73770	-0.3878	10	0.72032	D	0.01	.	5.4543	0.16582	0.538:0.3663:0.0957:0.0	.	10;10	Q02241-2;Q02241	.;KIF23_HUMAN	W	10	ENSP00000260363:R10W;ENSP00000304978:R10W;ENSP00000378790:R10W	ENSP00000260363:R10W	R	+	1	2	KIF23	67495403	0.984000	0.35163	0.996000	0.52242	0.079000	0.17450	1.431000	0.34925	0.289000	0.22422	-0.500000	0.04577	CGG		0.363	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				3	16	0	0	0	1	0	3	16					T	69708349	C	T	69708349	3	4	157	1	0	0	0	0	1	0	0	0	8291	643	23	1	34	1	KIF23	15	69708349	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		69708349	32823043	12	2710											
IL16	3603	broad.mit.edu	37	15	81592023	81592023	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr15:81592023G>A	ENST00000302987.4	+	13	2356	c.2356G>A	c.(2356-2358)Gct>Act	p.A786T	IL16_ENST00000394660.2_Missense_Mutation_p.A786T|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.A85T			Q14005	IL16_HUMAN	interleukin 16	786					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCTCCTGTGGCTCCCAAGCC	0.572																																						uc010unp.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2482-2484)Gct>Act		Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.							74	77	76					15																	81592023		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592023G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2356G>A	15.37:g.81592023G>A	ENSP00000302935:p.Ala786Thr		Somatic				IL16_uc010blq.1_Missense_Mutation_p.A740T|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc002bgg.3_Missense_Mutation_p.A786T|IL16_uc021ssh.1_Missense_Mutation_p.A786T|IL16_uc002bgi.1_Missense_Mutation_p.A176T|IL16_uc002bgj.3_Missense_Mutation_p.A280T|IL16_uc021ssi.1_Missense_Mutation_p.A85T|IL16_uc002bgl.1_Missense_Mutation_p.A85T|IL16_uc010unq.1_Missense_Mutation_p.A85T	p.A828T	NM_172217	NP_001165599	WXS	Illumina GAIIx	Phase_I	Q14005	IL16_HUMAN			13	2508	+			786					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2482G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162064	0.94727	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.30981	1.52;1.51;2.12	5.16	5.16	0.70880	.	0.000000	0.46442	D	0.000282	T	0.59404	0.2191	M	0.77103	2.36	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.996;0.998;0.999	T	0.64744	-0.6335	10	0.87932	D	0	.	18.6622	0.91475	0.0:0.0:1.0:0.0	.	618;280;323;176;786;786	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	T	786;618;786;323;176;85;85	ENSP00000378155:A786T;ENSP00000302935:A786T;ENSP00000378147:A85T	ENSP00000302935:A786T	A	+	1	0	IL16	79379078	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	8.382000	0.90154	2.397000	0.81536	0.655000	0.94253	GCT		0.572	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		11	49	0	0	0	1	0	11	49					A	81592023	G	A	81592023	3	1	157	1	0	0	0	0	1	0	0	0	7633	1203	42	2	2406	2	IL16	15	81592023	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08	11883674	81592023	20939369	13	2711											
ZNF207	7756	broad.mit.edu	37	17	30687676	30687676	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chr17:30687676G>A	ENST00000321233.6	+	4	521	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000394673.2_Missense_Mutation_p.A123T|ZNF207_ENST00000577908.1_Missense_Mutation_p.A123T|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394670.4_Missense_Mutation_p.A123T|ZNF207_ENST00000342555.6_Missense_Mutation_p.A126T	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	123					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CGACTCTGCAGCCTCAACTTC	0.398																																						uc010csz.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(376-378)Gcc>Acc		Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.							71	63	66					17																	30687676		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30687676G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.367G>A	17.37:g.30687676G>A	ENSP00000322777:p.Ala123Thr		Somatic				ZNF207_uc002hhj.4_Missense_Mutation_p.A123T|ZNF207_uc002hhh.4_Missense_Mutation_p.A123T|ZNF207_uc002hhi.4_Missense_Mutation_p.A123T|ZNF207_uc002hhk.1_Missense_Mutation_p.A123T|ZNF207_uc002hhl.1_Non-coding_Transcript	p.A126T			WXS	Illumina GAIIx	Phase_I	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	723	+		Breast(31;0.116)|Ovarian(249;0.182)	123					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.376G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421067	0.42918	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.47869	0.89;0.83;0.9	5.26	5.26	0.73747	.	0.113565	0.64402	D	0.000015	T	0.42539	0.1207	L	0.38175	1.15	0.80722	D	1	P;P;P;P;P	0.44139	0.827;0.827;0.827;0.728;0.827	P;P;P;B;B	0.46026	0.501;0.501;0.501;0.325;0.405	T	0.13899	-1.0492	10	0.13108	T	0.6	.	14.4734	0.67531	0.0:0.1468:0.8531:0.0	.	123;126;123;123;123	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	T	123;123;126;123;123	ENSP00000378165:A123T;ENSP00000378168:A123T;ENSP00000322777:A123T	ENSP00000322777:A123T	A	+	1	0	ZNF207	27711789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.792000	0.75125	2.459000	0.83118	0.650000	0.86243	GCC		0.398	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			3	32	0	0	0	1	0	3	32					A	30687676	G	A	30687676	3	1	157	1	0	0	0	0	1	0	0	0	17762	971	34	2	381	2	ZNF207	17	30687676	Missense_Mutation	SNP	G	TCGA-EL-A3CM-01A-11D-A19J-08		30687676	50507534	14	2712											
GPKOW	27238	broad.mit.edu	37	X	48974115	48974115	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CM-01A-11D-A19J-08	TCGA-EL-A3CM-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d34d5a0d-21e2-4dfd-9ea6-a5e432ea6450	5a04fb3c-932a-4d0e-8f09-456a60b6739d	g.chrX:48974115C>A	ENST00000156109.5	-	5	694	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	206	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTTGGCACCCAGCCCTAAC	0.572																																						uc004dmr.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(616-618)Ggt>Tgt		Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.							46	38	41					X																	48974115		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48974115C>A	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.616G>T	X.37:g.48974115C>A	ENSP00000156109:p.Gly206Cys		Somatic					p.G206C	NM_015698	NP_056513	WXS	Illumina GAIIx	Phase_I	Q92917	GPKOW_HUMAN			4	623	-			206			G-patch.		Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.616G>T	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055131	0.75960	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.58	4.58	0.56647	D111/G-patch (2);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89374	0.3677	9	0.87932	D	0	-0.0524	15.5507	0.76148	0.0:1.0:0.0:0.0	.	206	Q92917	GPKOW_HUMAN	C	206	.	ENSP00000156109:G206C	G	-	1	0	GPKOW	48861059	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	5.495000	0.66912	2.269000	0.75478	0.600000	0.82982	GGT		0.572	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		3	12	0	0	0	1	0	3	12					A	48974115	C	A	48974115	3	1	157	1	0	0	0	0	1	0	0	0	6613	623	22	4	842	4	GPKOW	23	48974115	Missense_Mutation	SNP	C	TCGA-EL-A3CM-01A-11D-A19J-08		48974115	106296445	15	2713											
MORN1	79906	broad.mit.edu	37	1	2268277	2268277	+	Missense_Mutation	SNP	G	G	A	rs201376833	byFrequency	TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:2268277G>A	ENST00000378531.3	-	11	1222	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	350										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACAATGGGGCGCATGTCCCCT	0.657													g|||	2	0.000399361	0	0	5008	,	,		16647	0.001		0	False		,,,				2504	0.001					uc001ajb.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9						c.(1048-1050)gCg>gTg		Homo sapiens MORN repeat containing 1 (MORN1), mRNA.							18	19	18					1																	2268277		2200	4295	6495	SO:0001583	missense	79906							g.chr1:2268277G>A	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1049C>T	1.37:g.2268277G>A	ENSP00000367792:p.Ala350Val		Somatic				MORN1_uc009vld.3_Missense_Mutation_p.A326V	p.A350V	NM_024848	NP_079124	WXS	Illumina GAIIx	Phase_I	Q5T089	MORN1_HUMAN		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)	10	1070	-	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	350					A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	ENST00000378531.3	37	c.1049C>T	CCDS40.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	9.047	0.991229	0.18966	.	.	ENSG00000116151	ENST00000378531	T	0.46063	0.88	3.55	-4.29	0.03721	.	5.843630	0.00659	N	0.000593	T	0.23133	0.0559	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.04495	-1.0947	10	0.20519	T	0.43	.	1.1244	0.01732	0.2865:0.1057:0.3608:0.2471	.	350	Q5T089	MORN1_HUMAN	V	350	ENSP00000367792:A350V	ENSP00000367792:A350V	A	-	2	0	MORN1	2258137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-0.855000	0.04125	0.457000	0.33378	GCG		0.657	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004055.1	NM_024848		3	31	0	0	0	1	0	3	31					A	2268277	G	A	2268277	3	1	158	1	0	0	0	0	1	0	0	0	9708	1087	38	1	460	1	MORN1	1	2268277	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		2268277	246982344	1	2714											
NBPF3	84224	broad.mit.edu	37	1	21807432	21807432	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:21807432A>G	ENST00000318249.5	+	12	1741	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R	NBPF3_ENST00000318220.6_Missense_Mutation_p.K408R|NBPF3_ENST00000342104.5_Missense_Mutation_p.K452R|NBPF3_ENST00000454000.2_Missense_Mutation_p.K394R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	464	NBPF 4. {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)		GGAATGAAAAAGGACCAAGAA	0.468																																						uc001ber.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1390-1392)aAg>aGg		Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.							87	127	114					1																	21807432		2185	4299	6484	SO:0001583	missense	84224					cytoplasm		g.chr1:21807432A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1391A>G	1.37:g.21807432A>G	ENSP00000316782:p.Lys464Arg		Somatic				NBPF3_uc001bes.3_Missense_Mutation_p.K408R|NBPF3_uc009vqb.3_Missense_Mutation_p.K452R|NBPF3_uc010odm.2_Missense_Mutation_p.K394R	p.K464R	NM_032264	NP_115640	WXS	Illumina GAIIx	Phase_I	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)	11	1741	+		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)	464			NBPF 4.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1391A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.286	0.420897	0.11928	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04706	3.57;3.8;3.77;3.78;3.82	0.573	-1.15	0.09709	DUF1220 (1);	.	.	.	.	T	0.06826	0.0174	M	0.76328	2.33	0.09310	N	1	P;P;P	0.45594	0.61;0.862;0.813	B;B;B	0.41332	0.354;0.135;0.221	T	0.16424	-1.0403	8	0.62326	D	0.03	.	.	.	.	.	394;452;464	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	R	394;408;464;452;408	ENSP00000415711:K394R;ENSP00000316739:K408R;ENSP00000316782:K464R;ENSP00000340336:K452R;ENSP00000391865:K408R	ENSP00000316739:K408R	K	+	2	0	NBPF3	21680019	0.004000	0.15560	0.001000	0.08648	0.166000	0.22503	0.073000	0.14640	-0.553000	0.06158	0.102000	0.15555	AAG		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	244	0	0	0	1	0	3	244					G	21807432	A	G	21807432	3	3	158	1	0	0	0	0	1	0	0	0	10197	72	3	3	1433	3	NBPF3	1	21807432	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	19539155	21807432	227443189	2	2715											
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000368732.1_Missense_Mutation_p.K49R|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						uc001fbs.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.							115	115	115					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"S100 calcium binding proteins", "EF-hand domain containing"	10498	protein-coding gene	gene with protein product		123885	"S100 calcium-binding protein A8 (calgranulin A)", "S100 calcium binding protein A8 (calgranulin A)"	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg		Somatic					p.K49R	NM_002964	NP_002955	WXS	Illumina GAIIx	Phase_I	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	316	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		3	178	0	0	0	1	0	3	178					C	153362715	T	C	153362715	3	2	158	1	0	0	0	0	1	0	0	0	13786	1609	56	3	139	3	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08	131555283	153362715	95887906	3	2716											
ADAM15	8751	broad.mit.edu	37	1	155028663	155028663	+	Silent	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:155028663C>T	ENST00000356955.2	+	9	953	c.852C>T	c.(850-852)ttC>ttT	p.F284F	ADAM15_ENST00000447332.3_Silent_p.F268F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Silent_p.F284F|ADAM15_ENST00000531455.1_Silent_p.F294F|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368412.3_Silent_p.F284F|ADAM15_ENST00000449910.2_Silent_p.F284F|ADAM15_ENST00000271836.6_Silent_p.F284F|ADAM15_ENST00000359280.4_Silent_p.F284F|ADAM15_ENST00000360674.4_Silent_p.F284F|ADAM15_ENST00000368410.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			TCGAAAACTTCCTCCACTGGC	0.622																																						uc001fgr.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(850-852)ttC>ttT		Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.							79	77	78					1																	155028663		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	g.chr1:155028663C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.852C>T	1.37:g.155028663C>T			Somatic				LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.F268F|ADAM15_uc010peu.1_Silent_p.F301F|ADAM15_uc001fgx.1_Silent_p.F284F|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.F284F|ADAM15_uc001fgs.1_Silent_p.F284F|ADAM15_uc010pev.1_Silent_p.F294F|ADAM15_uc001fgu.1_Silent_p.F284F|ADAM15_uc001fgv.1_Silent_p.F284F|ADAM15_uc001fgw.1_Silent_p.F284F	p.F284F	NM_207197	NP_997080	WXS	Illumina GAIIx	Phase_I	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	953	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		284			Peptidase M12B.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.852C>T	CCDS1087.1																																																																																				0.622	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		4	117	0	0	0	1	0	4	117					T	155028663	C	T	155028663	2	4	158	1	0	0	0	0	0	0	0	1	237	854	30	2		2	ADAM15	1	155028663	Silent	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	1665948	155028663	94221958	4	2717											
SPAST	6683	broad.mit.edu	37	2	32312619	32312619	+	Silent	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:32312619A>G	ENST00000315285.3	+	2	599	c.474A>G	c.(472-474)aaA>aaG	p.K158K	AL121655.1_ENST00000577299.1_RNA|SPAST_ENST00000345662.1_Silent_p.K158K	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318																																						uc002roc.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(472-474)aaA>aaG		Homo sapiens spastin (SPAST), transcript variant 1, mRNA.							133	143	140					2																	32312619		2203	4300	6503	SO:0001819	synonymous_variant	6683				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32312619A>G	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.474A>G	2.37:g.32312619A>G			Somatic				SPAST_uc002rod.3_Silent_p.K158K	p.K158K	NM_014946	NP_055761	WXS	Illumina GAIIx	Phase_I	Q9UBP0	SPAST_HUMAN			1	695	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		158			MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.			Silent	SNP	ENST00000315285.3	37	c.474A>G	CCDS1778.1																																																																																				0.318	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		3	166	0	0	0	1	0	3	166					G	32312619	A	G	32312619	2	3	158	1	0	0	0	0	0	0	0	1	14996	69	3	3		3	SPAST	2	32312619	Silent	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		32312619	210886754	5	2718											
EPHA4	2043	broad.mit.edu	37	2	222428985	222428985	+	Missense_Mutation	SNP	C	C	A	rs144149406		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:222428985C>A	ENST00000281821.2	-	3	330	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	EPHA4_ENST00000409854.1_Missense_Mutation_p.V97L|EPHA4_ENST00000392071.4_Missense_Mutation_p.V46L|EPHA4_ENST00000409938.1_Missense_Mutation_p.V97L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	97	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAATATACACCCTCTGAGCC	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		18165	0		0	False		,,,				2504	0					uc002vmq.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(289-291)Gtg>Ttg		Homo sapiens EPH receptor A4 (EPHA4), mRNA.		C	LEU/VAL	2,4404	4.2+/-10.8	0,2,2201	109	108	108		289	6.2	1.0	2	dbSNP_134	108	0,8600		0,0,4300	no	missense	EPHA4	NM_004438.3	32	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	possibly-damaging	97/987	222428985	2,13004	2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428985C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.289G>T	2.37:g.222428985C>A	ENSP00000281821:p.Val97Leu		Somatic				EPHA4_uc002vmr.2_Missense_Mutation_p.V97L|EPHA4_uc010zlm.1_Missense_Mutation_p.V38L	p.V97L	NM_004438	NP_004429	WXS	Illumina GAIIx	Phase_I	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	2	331	-		Renal(207;0.0183)	97					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.289G>T	CCDS2447.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.34	3.808823	0.70797	4.54E-4	0.0	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.26774	0.0655	L	0.58354	1.805	0.80722	D	1	P	0.44309	0.832	P	0.47346	0.544	T	0.00089	-1.2088	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	97	P54764	EPHA4_HUMAN	L	97;97;97;46;38;97	ENSP00000281821:V97L;ENSP00000386276:V97L;ENSP00000386829:V97L;ENSP00000375923:V46L;ENSP00000410158:V38L;ENSP00000444085:V97L	ENSP00000281821:V97L	V	-	1	0	EPHA4	222137229	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG		0.468	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			5	214	0	0	0	1	0	5	214					A	222428985	C	A	222428985	3	1	158	1	0	0	0	0	1	0	0	0	5169	507	18	4	2731	4	EPHA4	2	222428985	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	190116366	222428985	20770388	6	2719											
ACY1	95	broad.mit.edu	37	3	52019429	52019429	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:52019429C>T	ENST00000404366.2	+	4	358	c.212C>T	c.(211-213)aCa>aTa	p.T71I	ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000476351.1_Missense_Mutation_p.T36I|ACY1_ENST00000476854.1_Missense_Mutation_p.T71I|ACY1_ENST00000494103.1_Missense_Mutation_p.T71I|ACY1_ENST00000458031.2_Missense_Mutation_p.T161I|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.T172I|ABHD14B_ENST00000483233.1_5'Flank	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	71					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	ACCAACCCTACACTCTCCTCC	0.607																																						uc011bea.2																			0		p.R161Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(481-483)aCa>aTa		Homo sapiens aminoacylase 1 (ACY1), transcript variant 2, mRNA.	L-Aspartic Acid(DB00128)						170	126	141					3																	52019429		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52019429C>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.212C>T	3.37:g.52019429C>T	ENSP00000384296:p.Thr71Ile		Somatic				ABHD14B_uc003dcn.3_5'Flank|ACY1_uc011beb.2_Missense_Mutation_p.T71I|ACY1_uc003dcp.3_Missense_Mutation_p.T71I|ACY1_uc003dcq.3_Missense_Mutation_p.T71I|ACY1_uc021wzb.1_Missense_Mutation_p.T36I|ACY1_uc021wzc.1_Missense_Mutation_p.T71I|ACY1_uc021wzd.1_Missense_Mutation_p.T71I	p.T161I	NM_001198895	NP_001185824	WXS	Illumina GAIIx	Phase_I	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	737	+			71					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.482C>T	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951286	0.34471	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366;ENST00000469863	D;D;D;D;T;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.15;-1.66;-1.66	4.87	-8.23	0.01033	.	1.958810	0.02212	N	0.063314	T	0.72922	0.3521	L	0.46157	1.445	0.09310	N	1	B;B;B	0.21225	0.053;0.051;0.017	B;B;B	0.16722	0.013;0.016;0.009	T	0.58194	-0.7679	10	0.62326	D	0.03	-10.7987	3.597	0.08010	0.5272:0.1102:0.224:0.1386	.	71;161;71	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	I	161;172;71;71;36;71;71;80	ENSP00000390557:T161I;ENSP00000420487:T172I;ENSP00000419262:T71I;ENSP00000417056:T36I;ENSP00000417618:T71I;ENSP00000384296:T71I;ENSP00000419830:T80I	ENSP00000384296:T71I	T	+	2	0	ACY1;RP11-155D18.11	51994469	0.000000	0.05858	0.000000	0.03702	0.959000	0.62525	-3.348000	0.00503	-1.204000	0.02648	0.456000	0.33151	ACA		0.607	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		47	102	0	0	0	1	0	47	102					T	52019429	C	T	52019429	3	4	158	1	0	0	0	0	1	0	0	0	226	478	17	2	222	2	ACY1	3	52019429	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		52019429	146003001	7	2720											
MYLK	4638	broad.mit.edu	37	3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	rs368321325		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:123383036G>A	ENST00000475616.1	-	20	3900	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000360772.3_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3901-3903)Cgc>Tgc		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	137	131	133		3901,3694,3901,3694	2.8	0.7	3		133	0,8600		0,0,4300	no	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1301/1915,1232/1846,1301/1864,1232/1795	123383036	1,13005	2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383036G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3901C>T	3.37:g.123383036G>A	ENSP00000418335:p.Arg1301Cys		Somatic				MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.R101C|MYLK_uc011bjw.2_Missense_Mutation_p.R1301C|MYLK_uc003egp.3_Missense_Mutation_p.R1232C|MYLK_uc003egq.3_Missense_Mutation_p.R1301C|MYLK_uc003egr.3_Missense_Mutation_p.R1232C|MYLK_uc003egs.3_Missense_Mutation_p.R1125C	p.R1301C	NM_053025	NP_444253	WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	22	4183	-		Lung NSC(201;0.0496)	1301			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3901C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163382	0.38217	2.27E-4	0.0	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.86	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68997	0.3062	L	0.36672	1.1	0.42021	D	0.990989	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.998;0.999	P;D;P;P;D	0.65233	0.854;0.933;0.873;0.864;0.91	T	0.68708	-0.5337	9	0.54805	T	0.06	.	8.9629	0.35858	0.0919:0.0:0.7154:0.1927	.	1301;1232;1301;1232;1301	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	C	1301;1301;1301;1232;101;1301;101	ENSP00000354004:R1301C;ENSP00000353452:R1301C;ENSP00000352088:R1301C;ENSP00000320622:R1232C;ENSP00000346846:R101C;ENSP00000418335:R1301C;ENSP00000422984:R101C	ENSP00000320622:R1232C	R	-	1	0	MYLK	124865726	0.571000	0.26659	0.739000	0.30968	0.887000	0.51463	0.646000	0.24797	1.056000	0.40484	0.655000	0.94253	CGC		0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		40	294	0	0	0	1	0	40	294					A	123383036	G	A	123383036	3	1	158	1	0	0	0	0	1	0	0	0	10056	1087	38	1	1891	1	MYLK	3	123383036	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	71363607	123383036	74639394	8	2721											
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A	rs534067316		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557													G|||	1	0.000199681	0	0	5008	,	,		20256	0.001		0	False		,,,				2504	0					uc003eqt.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1369-1371)ccG>ccA		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							139	148	145					3																	134873067		2194	4298	6492	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873067G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1371G>A	3.37:g.134873067G>A			Somatic				EPHB1_uc003equ.3_Silent_p.P18P	p.P457P	NM_004441	NP_004432	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			5	1746	+			457			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1371G>A	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	239	0	0	0	1	0	4	239					A	134873067	G	A	134873067	2	1	158	1	0	0	0	0	0	0	0	1	5174	1103	39	1		1	EPHB1	3	134873067	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	11490031	134873067	63149363	9	2722											
STOX2	56977	broad.mit.edu	37	4	184930711	184930711	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:184930711C>A	ENST00000308497.4	+	3	2155	c.720C>A	c.(718-720)agC>agA	p.S240R	STOX2_ENST00000438269.1_Missense_Mutation_p.S240R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	240					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGAAAAGAGCAAAAGTACTG	0.443																																						uc003ivz.1																			0				breast(1)|endometrium(7)|lung(6)	14						c.(718-720)agC>agA		Homo sapiens storkhead box 2 (STOX2), mRNA.							32	34	33					4																	184930711		1897	4106	6003	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930711C>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.720C>A	4.37:g.184930711C>A	ENSP00000311257:p.Ser240Arg		Somatic				STOX2_uc003iwa.1_5'UTR	p.S240R	NM_020225	NP_064610	WXS	Illumina GAIIx	Phase_I	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	2	2155	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	240					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.720C>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999212	0.54147	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.79454	-0.28;-1.27	5.55	2.72	0.32119	.	0.120721	0.85682	D	0.000000	T	0.81912	0.4923	L	0.54323	1.7	0.44816	D	0.997823	D	0.67145	0.996	D	0.71656	0.974	T	0.81072	-0.1098	10	0.87932	D	0	-26.7777	7.3976	0.26946	0.0:0.644:0.0:0.356	.	240	Q9P2F5	STOX2_HUMAN	R	240	ENSP00000311257:S240R;ENSP00000390127:S240R	ENSP00000311257:S240R	S	+	3	2	STOX2	185167705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.061000	0.41403	0.914000	0.36822	0.655000	0.94253	AGC		0.443	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		3	36	0	0	0	1	0	3	36					A	184930711	C	A	184930711	3	1	158	1	0	0	0	0	1	0	0	0	15319	709	25	4	730	4	STOX2	4	184930711	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		184930711	6223565	10	2723											
PKHD1	5314	broad.mit.edu	37	6	51619708	51619708	+	Missense_Mutation	SNP	G	G	A	rs148990124		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:51619708G>A	ENST00000371117.3	-	56	8946	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2891C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2891					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCATGGGGGCGCCAATCCACT	0.438																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8671-8673)Cgc>Tgc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	154	145	148		8671,8671	1.0	0.6	6	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2891/4075,2891/3397	51619708	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51619708G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8671C>T	6.37:g.51619708G>A	ENSP00000360158:p.Arg2891Cys		Somatic				PKHD1_uc010jzn.1_Missense_Mutation_p.R874C|PKHD1_uc003pai.3_Missense_Mutation_p.R2891C	p.R2891C	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			55	8947	-	Lung NSC(77;0.0605)		2891					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8671C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492498	0.44352	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83992	-1.79;-1.79	5.63	0.971	0.19698	.	0.940169	0.08899	N	0.877580	T	0.79393	0.4438	M	0.68593	2.085	0.25350	N	0.988874	D;D;D	0.71674	0.998;0.998;0.995	P;P;P	0.53146	0.549;0.719;0.549	T	0.68112	-0.5495	10	0.72032	D	0.01	.	10.3821	0.44119	0.0:0.112:0.2551:0.6329	.	2891;2891;2891	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2891	ENSP00000360158:R2891C;ENSP00000341097:R2891C	ENSP00000341097:R2891C	R	-	1	0	PKHD1	51727667	0.353000	0.24904	0.631000	0.29282	0.417000	0.31264	0.475000	0.22164	0.364000	0.24374	-0.182000	0.12963	CGC		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		26	197	0	0	0	1	0	26	197					A	51619708	G	A	51619708	3	1	158	1	0	0	0	0	1	0	0	0	11971	1087	38	1	3640	1	PKHD1	6	51619708	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		51619708	119495359	11	2724											
DLL1	28514	broad.mit.edu	37	6	170594187	170594187	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:170594187C>T	ENST00000366756.3	-	8	1402	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	357	EGF-like 4; calcium-binding. {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)		CCGTAGAAGCCGGGTGGGCAG	0.557																																						uc003qxm.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1069-1071)Ggc>Agc		Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.							68	65	66					6																	170594187		2203	4300	6503	SO:0001583	missense	28514				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding	g.chr6:170594187C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1069G>A	6.37:g.170594187C>T	ENSP00000355718:p.Gly357Ser		Somatic					p.G357S	NM_005618	NP_005609	WXS	Illumina GAIIx	Phase_I	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	1539	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	357			EGF-like 4; calcium-binding (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.1069G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621689	0.96660	.	.	ENSG00000198719	ENST00000366756	D	0.98192	-4.78	5.09	5.09	0.68999	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.096235	0.64402	D	0.000001	D	0.98918	0.9633	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	D	0.99474	1.0946	10	0.62326	D	0.03	.	18.5281	0.90980	0.0:1.0:0.0:0.0	.	357	O00548	DLL1_HUMAN	S	357	ENSP00000355718:G357S	ENSP00000355718:G357S	G	-	1	0	DLL1	170436112	1.000000	0.71417	0.980000	0.43619	0.950000	0.60333	7.751000	0.85126	2.393000	0.81446	0.585000	0.79938	GGC		0.557	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			4	99	0	0	0	1	0	4	99					T	170594187	C	T	170594187	3	4	158	1	0	0	0	0	1	0	0	0	4566	652	23	1	1118	1	DLL1	6	170594187	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	118974479	170594187	520880	12	2725											
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468																																					NSCLC(40;560 1096 7501 40315 49546)	uc003ubd.1																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1471-1473)aaA>aaG		Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.							141	117	125					7																	74212378		2203	4299	6502	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212378T>C	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"transcription factor GTF2IRD2"	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1473A>G	7.37:g.74212378T>C			Somatic				GTF2IRD2_uc010lbt.1_Silent_p.K38K	p.K491K	NM_173537	NP_775808	WXS	Illumina GAIIx	Phase_I	Q86UP8	GTD2A_HUMAN			15	1657	-			491					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1473A>G	CCDS5576.1																																																																																				0.468	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		3	202	0	0	0	1	0	3	202					C	74212378	T	C	74212378	2	2	158	1	0	0	0	0	0	0	0	1	6869	1606	56	3		3	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08		74212378	84926285	13	2726											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	80	0	0	0	1	0	40	80					T	140453136	A	T	140453136	3	4	158	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	66240758	140453136	18685527	14	2727											
SH3GLB2	56904	broad.mit.edu	37	9	131777178	131777178	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr9:131777178T>C	ENST00000372564.3	-	4	485	c.340A>G	c.(340-342)Aca>Gca	p.T114A	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.T114A|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.T114A	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TTGATCAGTGTCTTCCCTGAG	0.532																																						uc004bww.3																			0				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(340-342)Aca>Gca		Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.							96	101	99					9																	131777178		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity	g.chr9:131777178T>C	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.340A>G	9.37:g.131777178T>C	ENSP00000361645:p.Thr114Ala		Somatic				SH3GLB2_uc004bwv.3_Missense_Mutation_p.T114A	p.T114A	NM_020145	NP_064530	WXS	Illumina GAIIx	Phase_I	Q9NR46	SHLB2_HUMAN			3	486	-			114			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.340A>G	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	T	8.539	0.872844	0.17322	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.45	5.45	0.79879	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	N	0.16656	0.425	0.80722	D	1	P;B	0.45283	0.855;0.004	B;B	0.43950	0.437;0.01	T	0.03051	-1.1078	10	0.02654	T	1	1.5118	14.9827	0.71321	0.0:0.0:0.0:1.0	.	114;114	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	A	114	ENSP00000361645:T114A;ENSP00000361640:T114A;ENSP00000361634:T114A;ENSP00000402566:T114A;ENSP00000388282:T114A	ENSP00000361634:T114A	T	-	1	0	SH3GLB2	130816999	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	3.161000	0.50747	2.196000	0.70406	0.533000	0.62120	ACA		0.532	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			62	149	0	0	0	1	0	62	149					C	131777178	T	C	131777178	3	2	158	1	0	0	0	0	1	0	0	0	14254	1667	58	3	879	3	SH3GLB2	9	131777178	Missense_Mutation	SNP	T	TCGA-EL-A3CN-01A-12D-A20C-08		131777178	9436253	15	2728											
CCDC67	159989	broad.mit.edu	37	11	93103317	93103317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:93103317C>T	ENST00000298050.3	+	6	611	c.511C>T	c.(511-513)Caa>Taa	p.Q171*		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	171					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGATGCTCAACAAAAATTATT	0.308																																						uc001pdq.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(511-513)Caa>Taa		Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.							53	53	53					11																	93103317		1800	4065	5865	SO:0001587	stop_gained	159989							g.chr11:93103317C>T	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.511C>T	11.37:g.93103317C>T	ENSP00000298050:p.Gln171*		Somatic				CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q171*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.Q171*	p.Q171*	NM_181645	NP_857596	WXS	Illumina GAIIx	Phase_I	Q05D60	CCD67_HUMAN			5	611	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	171					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.511C>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.148073	0.97324	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	.	.	.	5.5	5.5	0.81552	.	0.090066	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3873	0.60803	0.157:0.843:0.0:0.0	.	.	.	.	X	171	.	ENSP00000298050:Q171X	Q	+	1	0	CCDC67	92742965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.242000	0.51384	2.584000	0.87258	0.563000	0.77884	CAA		0.308	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		8	14	0	0	0	1	0	8	14					T	93103317	C	T	93103317	4	4	158	1	0	0	0	0	0	1	0	0	2839	479	17	2	529	2	CCDC67	11	93103317	Nonsense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		93103317	41903199	16	2729											
TEX12	56158	broad.mit.edu	37	11	112040055	112040055	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		AP002884.3_ENST00000532612.1_5'Flank|RP11-356J5.4_ENST00000527589.1_RNA|TEX12_ENST00000530752.1_Splice_Site|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525468.1_Splice_Site	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12						meiotic DNA repair synthesis (GO:0000711)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373																																						uc001pnc.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.e2+1		Homo sapiens testis expressed 12 (TEX12), mRNA.							205	221	216					11																	112040055		2201	4297	6498	SO:0001630	splice_region_variant	56158							g.chr11:112040055G>A	AF285600	CCDS31679.1	11q23.1	2013-09-20	2007-03-13						11734	protein-coding gene	gene with protein product		605791	"testis expressed sequence 12"			11279525	Standard	NM_031275		Approved		uc001pnc.3	Q9BXU0		ENST00000280358.4:c.63+1G>A	11.37:g.112040055G>A			Somatic				TEX12_uc001pnd.3_Splice_Site_p.E21_splice	p.E21_splice	NM_031275	NP_112565	WXS	Illumina GAIIx	Phase_I	Q9BXU0	TEX12_HUMAN		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	2	195	+		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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)	21					A6NDL9|B0YIX3	Splice_Site	SNP	ENST00000280358.4	37	c.63_splice	CCDS31679.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289894	0.23478	.	.	ENSG00000150783	ENST00000530752;ENST00000280358	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.511	0.67787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TEX12	111545265	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.383000	0.59600	2.880000	0.98712	0.650000	0.86243	.		0.373	TEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392417.1		Intron	4	147	0	0	0	1	0	4	147					A	112040055	G	A	112040055	5	1	158	1	0	0	0	0	0	0	1	0	15772	1275	44	2	66	2	TEX12	11	112040055	Splice_Site	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	18936738	112040055	22966461	17	2730											
SCYL2	55681	broad.mit.edu	37	12	100704966	100704966	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:100704966C>A	ENST00000360820.2	+	5	1062	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTCTGAACAAGAGGTAAT	0.348																																						uc001thn.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(625-627)Caa>Aaa		Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.							77	81	80					12																	100704966		2203	4298	6501	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100704966C>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.625C>A	12.37:g.100704966C>A	ENSP00000354061:p.Gln209Lys		Somatic				SCYL2_uc009ztw.1_Missense_Mutation_p.Q36K|SCYL2_uc001thm.1_Missense_Mutation_p.Q209K	p.Q209K	NM_017988	NP_060458	WXS	Illumina GAIIx	Phase_I	Q6P3W7	SCYL2_HUMAN			4	675	+			209			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.625C>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	6.946	0.544410	0.13312	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.29397	1.88;1.57	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175272	0.50627	D	0.000108	T	0.24699	0.0599	L	0.33093	0.98	0.43662	D	0.996081	B	0.15719	0.014	B	0.22152	0.038	T	0.09164	-1.0687	10	0.05833	T	0.94	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	209	Q6P3W7	SCYL2_HUMAN	K	209;36;36;209	ENSP00000448366:Q209K;ENSP00000354061:Q209K	ENSP00000258506:Q36K	Q	+	1	0	SCYL2	99229097	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.604000	0.61112	2.563000	0.86464	0.650000	0.86243	CAA		0.348	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		3	95	0	0	0	1	0	3	95					A	100704966	C	A	100704966	3	1	158	1	0	0	0	0	1	0	0	0	13948	479	17	4	639	4	SCYL2	12	100704966	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		100704966	33146929	18	2731											
ASCL1	429	broad.mit.edu	37	12	103352503	103352503	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:103352503C>A	ENST00000266744.3	+	1	1040	c.481C>A	c.(481-483)Cgc>Agc	p.R161S		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	161	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657																																						uc001tjr.4																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(481-483)Cgc>Agc		Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.							40	36	37					12																	103352503		2203	4300	6503	SO:0001583	missense	429				Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352503C>A	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"Basic helix-loop-helix proteins"	738	protein-coding gene	gene with protein product		100790	"achaete-scute complex (Drosophila) homolog-like 1", "achaete-scute complex-like 1 (Drosophila)", "achaete-scute complex homolog 1 (Drosophila)"			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.481C>A	12.37:g.103352503C>A	ENSP00000266744:p.Arg161Ser		Somatic				ASCL1_uc021rcu.1_Missense_Mutation_p.R161S	p.R161S	NM_004316	NP_004307	WXS	Illumina GAIIx	Phase_I	P50553	ASCL1_HUMAN			0	1052	+			161			Helix-loop-helix motif.		A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.481C>A	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935977	0.73442	.	.	ENSG00000139352	ENST00000266744	D	0.98164	-4.76	4.65	4.65	0.58169	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000001	D	0.99208	0.9725	H	0.95850	3.73	0.80722	D	1	D	0.61697	0.99	P	0.61800	0.894	D	0.99010	1.0814	10	0.87932	D	0	-12.7016	17.148	0.86771	0.0:1.0:0.0:0.0	.	161	P50553	ASCL1_HUMAN	S	161	ENSP00000266744:R161S	ENSP00000266744:R161S	R	+	1	0	ASCL1	101876633	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.568000	0.82369	2.133000	0.65898	0.462000	0.41574	CGC		0.657	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			3	58	0	0	0	1	0	3	58					A	103352503	C	A	103352503	3	1	158	1	0	0	0	0	1	0	0	0	1034	768	27	4	483	4	ASCL1	12	103352503	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	2647537	103352503	30499392	19	2732											
ATP7B	540	broad.mit.edu	37	13	52548923	52548923	+	Missense_Mutation	SNP	C	C	A	rs183365083		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr13:52548923C>A	ENST00000242839.4	-	2	589	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	ATP7B_ENST00000400366.3_Missense_Mutation_p.V145F|ATP7B_ENST00000400370.3_Missense_Mutation_p.V145F|ATP7B_ENST00000418097.2_Missense_Mutation_p.V145F|ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000542656.1_Missense_Mutation_p.V113F|ATP7B_ENST00000448424.2_Missense_Mutation_p.V145F|ATP7B_ENST00000344297.5_Missense_Mutation_p.V145F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	145	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CGGAGCTTGACCACAGCCTCC	0.577									Wilson disease																													uc001vfw.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(433-435)Gtc>Ttc		Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.							50	51	51					13																	52548923		2008	4173	6181	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548923C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.433G>T	13.37:g.52548923C>A	ENSP00000242839:p.Val145Phe		Somatic				ATP7B_uc001vfy.2_Missense_Mutation_p.V145F|ATP7B_uc010adv.2_Missense_Mutation_p.V145F|ATP7B_uc001vfx.2_Missense_Mutation_p.V145F|ATP7B_uc010tgt.1_Missense_Mutation_p.V145F|ATP7B_uc010tgu.1_Missense_Mutation_p.V145F|ATP7B_uc010tgv.1_Missense_Mutation_p.V145F|ATP7B_uc010tgw.1_Missense_Mutation_p.V113F	p.V145F	NM_000053	NP_000044	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	1	590	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	145			HMA 2.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.433G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505318	0.64410	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.79	3.73	0.42828	Heavy metal-associated domain, HMA (2);	0.580940	0.19317	N	0.117230	D	0.92512	0.7622	M	0.64997	1.995	0.38566	D	0.949822	D;D;B;D;D;P;D;B	0.76494	0.975;0.961;0.213;0.979;0.999;0.936;0.99;0.151	P;P;B;P;D;P;D;B	0.76575	0.885;0.864;0.18;0.823;0.988;0.637;0.923;0.097	D	0.93144	0.6544	10	0.72032	D	0.01	-22.3657	11.3369	0.49509	0.0:0.7332:0.0:0.2668	.	113;145;145;145;145;145;145;145	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	F	145;145;145;145;145;145;113	ENSP00000242839:V145F;ENSP00000383217:V145F;ENSP00000342559:V145F;ENSP00000416738:V145F;ENSP00000383221:V145F;ENSP00000393343:V145F;ENSP00000443128:V113F	ENSP00000242839:V145F	V	-	1	0	ATP7B	51446924	1.000000	0.71417	0.984000	0.44739	0.920000	0.55202	1.455000	0.35190	1.438000	0.47492	0.561000	0.74099	GTC		0.577	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		16	56	0	0	0	1	0	16	56					A	52548923	C	A	52548923	3	1	158	1	0	0	0	0	1	0	0	0	1191	507	18	4	4044	4	ATP7B	13	52548923	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		52548923	62620955	20	2733											
OR11G2	390439	broad.mit.edu	37	14	20666079	20666079	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:20666079G>A	ENST00000357366.3	+	1	585	c.585G>A	c.(583-585)ttG>ttA	p.L195L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	195						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(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTGGTTCTTGATTCCTATCG	0.453																																						uc010tlb.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(583-585)ttG>ttA		Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.							115	96	103					14																	20666079		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666079G>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.585G>A	14.37:g.20666079G>A			Somatic					p.L195L	NM_001005503	NP_001005503	WXS	Illumina GAIIx	Phase_I	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	585	+	all_cancers(95;0.00108)		195					Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.585G>A	CCDS32032.1																																																																																				0.453	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			6	54	0	0	0	1	0	6	54					A	20666079	G	A	20666079	2	1	158	1	0	0	0	0	0	0	0	1	10925	1281	45	2		2	OR11G2	14	20666079	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		20666079	86683461	21	2734											
DAAM1	23002	broad.mit.edu	37	14	59791100	59791100	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:59791100A>G	ENST00000395125.1	+	7	940	c.917A>G	c.(916-918)tAt>tGt	p.Y306C	DAAM1_ENST00000351081.1_Missense_Mutation_p.Y306C|DAAM1_ENST00000360909.3_Missense_Mutation_p.Y306C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	306	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CATCTTCGCTATGAATTTCTG	0.289																																						uc001xdz.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(916-918)tAt>tGt		Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.							88	92	91					14																	59791100		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding	g.chr14:59791100A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.917A>G	14.37:g.59791100A>G	ENSP00000378557:p.Tyr306Cys		Somatic				DAAM1_uc001xea.1_Missense_Mutation_p.Y306C|DAAM1_uc001xeb.1_Missense_Mutation_p.Y306C	p.Y306C	NM_014992	NP_055807	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	7	1042	+			306			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.917A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994413	0.54041	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.83992	-1.79;-1.79;-1.79	5.17	4.01	0.46588	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	M	0.81942	2.565	0.80722	D	1	D;D	0.63880	0.992;0.993	P;P	0.61477	0.823;0.889	D	0.87709	0.2565	10	0.39692	T	0.17	.	11.4046	0.49889	0.8644:0.0:0.0:0.1355	.	306;306	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	306	ENSP00000354162:Y306C;ENSP00000247170:Y306C;ENSP00000378557:Y306C	ENSP00000247170:Y306C	Y	+	2	0	DAAM1	58860853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.107000	0.94261	0.962000	0.38057	0.533000	0.62120	TAT		0.289	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		42	101	0	0	0	1	0	42	101					G	59791100	A	G	59791100	3	3	158	1	0	0	0	0	1	0	0	0	4215	449	16	3	943	3	DAAM1	14	59791100	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08	39125021	59791100	47558440	22	2735											
CACNA1G	8913	broad.mit.edu	37	17	48678432	48678432	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr17:48678432G>A	ENST00000359106.5	+	19	3812	c.3812G>A	c.(3811-3813)cGg>cAg	p.R1271Q	CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1248Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1271					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGTGTCACCGGATCATCACC	0.627																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3811-3813)cGg>cAg		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						123	124	123					17																	48678432		2143	4230	6373	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48678432G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3812G>A	17.37:g.48678432G>A	ENSP00000352011:p.Arg1271Gln		Somatic				CACNA1G_uc002iri.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R1161Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isj.3_5'UTR	p.R1271Q	NM_018896	NP_061496	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		18	4184	+	Breast(11;6.7e-17)		1271					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3812G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	14.44	2.535994	0.45176	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	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;D;D	0.97553	-4.04;-4.03;-4.21;-3.98;-4.04;-4.05;-4.06;-4.16;-4.1;-4.13;-4.13;-4.02;-4.0;-4.09;-4.03;-3.98;-4.07;-4.03;-4.01;-4.08;-4.04;-4.02;-4.06;-4.01;-4.08;-4.06;-4.43	4.85	3.86	0.44501	.	0.243896	0.38897	N	0.001525	D	0.96470	0.8848	L	0.39326	1.205	0.30590	N	0.761608	P;B;B;D;B;P;D;B;P;B;B;B;B;B;P;B;D;B;B;B;P;B;B;B;D;D	0.76494	0.701;0.023;0.396;0.999;0.135;0.943;0.998;0.226;0.9;0.122;0.226;0.08;0.143;0.135;0.8;0.2;0.977;0.411;0.081;0.239;0.943;0.083;0.226;0.133;0.986;0.986	B;B;B;D;B;B;D;B;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;P;P	0.73380	0.069;0.017;0.025;0.98;0.017;0.173;0.973;0.025;0.217;0.025;0.025;0.027;0.011;0.017;0.217;0.014;0.615;0.194;0.017;0.025;0.242;0.012;0.025;0.007;0.78;0.786	D	0.92842	0.6289	10	0.59425	D	0.04	.	6.14	0.20255	0.2866:0.0:0.7134:0.0	.	1248;1271;1271;1271;1271;1271;1271;1271;1271;1271;1271;1248;1271;1271;1271;1271;1271;1248;1271;1248;1248;1248;1248;1271;1248;1271	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	Q	1248;1248;1271;1248;1248;1248;1271;1271;1248;1271;1271;1271;1271;1271;1271;1248;1271;1271;1271;1271;1248;1271;1271;1271;1271;1271;86	ENSP00000353990:R1248Q;ENSP00000339302:R1248Q;ENSP00000392390:R1271Q;ENSP00000347078:R1248Q;ENSP00000409759:R1248Q;ENSP00000425522:R1248Q;ENSP00000426261:R1271Q;ENSP00000425451:R1271Q;ENSP00000422407:R1248Q;ENSP00000426814:R1271Q;ENSP00000427238:R1271Q;ENSP00000423112:R1271Q;ENSP00000420918:R1271Q;ENSP00000426172:R1271Q;ENSP00000423045:R1271Q;ENSP00000427173:R1248Q;ENSP00000426098:R1271Q;ENSP00000425698:R1271Q;ENSP00000426232:R1271Q;ENSP00000423317:R1271Q;ENSP00000350979:R1248Q;ENSP00000352011:R1271Q;ENSP00000414388:R1271Q;ENSP00000423155:R1271Q;ENSP00000422268:R1271Q;ENSP00000421518:R1271Q;ENSP00000427697:R86Q	ENSP00000339302:R1248Q	R	+	2	0	CACNA1G	46033431	0.955000	0.32602	1.000000	0.80357	0.997000	0.91878	2.040000	0.41203	2.409000	0.81822	0.655000	0.94253	CGG		0.627	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		80	178	0	0	0	1	0	80	178					A	48678432	G	A	48678432	3	1	158	1	0	0	0	0	1	0	0	0	2544	1116	39	1	3886	1	CACNA1G	17	48678432	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		48678432	32516778	23	2736											
ALPK2	115701	broad.mit.edu	37	18	56247518	56247518	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr18:56247518A>G	ENST00000361673.3	-	4	703	c.490T>C	c.(490-492)Tcc>Ccc	p.S164P	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	164						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGGAGGGGGAGGAGTCAGCT	0.468																																						uc002lhj.4																			0		p.R164T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(490-492)Tcc>Ccc		Homo sapiens alpha-kinase 2 (ALPK2), mRNA.							208	214	212					18																	56247518		2151	4264	6415	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56247518A>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.490T>C	18.37:g.56247518A>G	ENSP00000354991:p.Ser164Pro		Somatic					p.S164P	NM_052947	NP_443179	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			3	704	-			164					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.490T>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	8.698	0.909162	0.17833	.	.	ENSG00000198796	ENST00000361673	T	0.49139	0.79	5.8	-2.63	0.06133	.	.	.	.	.	T	0.14356	0.0347	N	0.03115	-0.41	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.23084	-1.0198	9	0.02654	T	1	-0.0216	0.9525	0.01379	0.3065:0.3246:0.1563:0.2126	.	164	Q86TB3	ALPK2_HUMAN	P	164	ENSP00000354991:S164P	ENSP00000354991:S164P	S	-	1	0	ALPK2	54398498	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.120000	0.10660	-0.673000	0.05259	0.450000	0.29827	TCC		0.468	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	355	0	0	0	1	0	4	355					G	56247518	A	G	56247518	3	3	158	1	0	0	0	0	1	0	0	0	545	304	11	3	6062	3	ALPK2	18	56247518	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		56247518	21829730	24	2737											
C3	718	broad.mit.edu	37	19	6702224	6702224	+	Splice_Site	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:6702224C>A	ENST00000245907.6	-	19	2447		c.e19-1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						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)	CGTAGAGATTCTGGATGGAGA	0.507																																						uc002mfm.3																			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.e19-1		Homo sapiens complement component 3 (C3), mRNA.							46	44	45					19																	6702224		2203	4300	6503	SO:0001630	splice_region_variant	718				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702224C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2355-1G>T	19.37:g.6702224C>A			Somatic					p.G785_splice	NM_000064	NP_000055	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	19	2417	-			785					A7E236	Splice_Site	SNP	ENST00000245907.6	37	c.2355_splice	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332051	0.41297	.	.	ENSG00000125730	ENST00000245907	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8064	0.92038	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3	6653224	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	6.126000	0.71635	2.735000	0.93741	0.591000	0.81541	.		0.507	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Intron	28	44	0	0	0	1	0	28	44					A	6702224	C	A	6702224	5	1	158	1	0	0	0	0	0	0	1	0	2204	927	32	4	2729	4	C3	19	6702224	Splice_Site	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08		6702224	52426759	25	2738											
RYR1	6261	broad.mit.edu	37	19	38959719	38959719	+	Silent	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:38959719C>T	ENST00000359596.3	+	26	3495	c.3495C>T	c.(3493-3495)ggC>ggT	p.G1165G	RYR1_ENST00000355481.4_Silent_p.G1165G|RYR1_ENST00000360985.3_Silent_p.G1165G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1165	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	CCCTCAATGGCGAGGTCCTCA	0.557																																						uc002oit.3																			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.(3493-3495)ggC>ggT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						119	102	108					19																	38959719		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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.chr19:38959719C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3495C>T	19.37:g.38959719C>T			Somatic				RYR1_uc002oiu.3_Silent_p.G1165G	p.G1165G	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3625	+	all_cancers(60;7.91e-06)		1165			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3495C>T	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	119	0	0	0	1	0	12	119					T	38959719	C	T	38959719	2	4	158	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38959719	Silent	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	32257495	38959719	20169264	26	2739											
NF2	4771	broad.mit.edu	37	22	30038263	30038263	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:30038263G>A	ENST00000338641.4	+	4	877	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	NF2_ENST00000334961.7_Missense_Mutation_p.V63I|NF2_ENST00000347330.5_Missense_Mutation_p.V63I|NF2_ENST00000413209.2_Missense_Mutation_p.V146I|NF2_ENST00000403435.1_Missense_Mutation_p.V146I|NF2_ENST00000353887.4_Missense_Mutation_p.V63I|NF2_ENST00000361166.4_Missense_Mutation_p.V146I|NF2_ENST00000397789.3_Missense_Mutation_p.V146I|NF2_ENST00000361676.4_Missense_Mutation_p.V104I|NF2_ENST00000361452.4_Missense_Mutation_p.V105I|NF2_ENST00000403999.3_Missense_Mutation_p.V146I	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	146	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													uc003age.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		10	Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.V122_K149del(10)|p.?(2)|p.V146I(2)|p.Y144fs*5(1)|p.K123fs*2(1)|p.L140_P252del(1)|p.L127_D382del(1)|p.A145_L163del(1)	soft_tissue(7)|meninges(1)|large_intestine(1)|stomach(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(436-438)Gtc>Atc		Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.							72	70	71					22																	30038263		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30038263G>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.436G>A	22.37:g.30038263G>A	ENSP00000344666:p.Val146Ile		Somatic				NF2_uc003afy.4_Missense_Mutation_p.V146I|NF2_uc003afz.4_Missense_Mutation_p.V63I|NF2_uc003agf.4_Missense_Mutation_p.V146I|NF2_uc003agb.4_Missense_Mutation_p.V69I|NF2_uc003agc.4_Missense_Mutation_p.V108I|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Missense_Mutation_p.V146I|NF2_uc003aga.4_Missense_Mutation_p.V104I|NF2_uc003agh.4_Missense_Mutation_p.V105I|NF2_uc003agi.4_Missense_Mutation_p.V63I|NF2_uc003agj.4_Missense_Mutation_p.V146I	p.V146I	NM_000268	NP_000259	WXS	Illumina GAIIx	Phase_I	P35240	MERL_HUMAN			3	879	+			146			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.436G>A	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634247	0.67130	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;D;T;T;T;T;T;T;T;T;T	0.94417	-1.11;-3.42;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.24	4.22	0.49857	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.96620	0.8897	M	0.77486	2.375	0.32088	N	0.59225	D;D;D;D;D;D;D	0.76494	0.979;0.999;0.996;0.989;0.989;0.989;0.98	P;D;D;D;P;P;P	0.67548	0.87;0.948;0.952;0.926;0.861;0.891;0.861	D	0.96953	0.9696	9	.	.	.	.	13.9963	0.64405	0.0735:0.0:0.9265:0.0	.	146;105;146;146;104;63;146	P35240-9;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;MERL_HUMAN;.;.;.;.	I	146;63;146;146;105;146;146;63;63;146;104;146	ENSP00000409921:V146I;ENSP00000335160:V63I;ENSP00000344666:V146I;ENSP00000384029:V146I;ENSP00000354897:V105I;ENSP00000384797:V146I;ENSP00000335652:V63I;ENSP00000340626:V63I;ENSP00000380891:V146I;ENSP00000355183:V104I;ENSP00000354529:V146I	.	V	+	1	0	NF2	28368263	1.000000	0.71417	0.984000	0.44739	0.960000	0.62799	9.777000	0.99008	1.213000	0.43380	0.655000	0.94253	GTC		0.448	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		3	59	0	0	0	1	0	3	59					A	30038263	G	A	30038263	3	1	158	1	0	0	0	0	1	0	0	0	10357	1145	40	1	450	1	NF2	22	30038263	Missense_Mutation	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08		30038263	21266303	27	2740											
ALG12	79087	broad.mit.edu	37	22	50302984	50302984	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:50302984C>A	ENST00000330817.6	-	6	949	c.676G>T	c.(676-678)Gct>Tct	p.A226S		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	226					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCACAGCAACCGTCAGT	0.478																																						uc003biy.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(676-678)Gct>Tct		Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.							78	73	75					22																	50302984		2203	4300	6503	SO:0001583	missense	79087				GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50302984C>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.676G>T	22.37:g.50302984C>A	ENSP00000333813:p.Ala226Ser		Somatic					p.A226S	NM_024105	NP_077010	WXS	Illumina GAIIx	Phase_I	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	5	950	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	226					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.676G>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912346	0.17907	.	.	ENSG00000182858	ENST00000330817	T	0.64085	-0.08	5.07	4.05	0.47172	.	0.424795	0.27258	N	0.020188	T	0.59542	0.2201	L	0.53780	1.695	0.25901	N	0.983359	B	0.29212	0.237	B	0.33196	0.159	T	0.57382	-0.7821	10	0.51188	T	0.08	-9.1028	13.8172	0.63299	0.0:0.9256:0.0:0.0744	.	226	Q9BV10	ALG12_HUMAN	S	226	ENSP00000333813:A226S	ENSP00000333813:A226S	A	-	1	0	ALG12	48688988	0.811000	0.29063	0.041000	0.18516	0.051000	0.14879	2.863000	0.48396	1.297000	0.44761	0.650000	0.86243	GCT		0.478	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	74	0	0	0	1	0	3	74					A	50302984	C	A	50302984	3	1	158	1	0	0	0	0	1	0	0	0	514	710	25	4	810	4	ALG12	22	50302984	Missense_Mutation	SNP	C	TCGA-EL-A3CN-01A-12D-A20C-08	20264721	50302984	1001582	28	2741											
CENPI	2491	broad.mit.edu	37	X	100382562	100382562	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:100382562A>T	ENST00000372927.1	+	10	1259	c.982A>T	c.(982-984)Agt>Tgt	p.S328C	CENPI_ENST00000372926.1_Missense_Mutation_p.S328C|CENPI_ENST00000423383.1_Missense_Mutation_p.S328C|CENPI_ENST00000218507.5_Missense_Mutation_p.S328C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	328					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						AAAAGAGATGAGTCTTTCTGA	0.358																																						uc004egx.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(982-984)Agt>Tgt		Homo sapiens centromere protein I (CENPI), mRNA.							100	93	96					X																	100382562		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382562A>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.982A>T	X.37:g.100382562A>T	ENSP00000362018:p.Ser328Cys		Somatic				CENPI_uc011mrg.2_Missense_Mutation_p.S328C|CENPI_uc004egy.3_Missense_Mutation_p.S328C	p.S328C	NM_006733	NP_006724	WXS	Illumina GAIIx	Phase_I	Q92674	CENPI_HUMAN			9	1252	+			328					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.982A>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	a	13.30	2.196268	0.38806	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	1.57	0.23409	.	1.002650	0.08030	N	0.993452	T	0.50069	0.1594	L	0.53249	1.67	0.09310	N	1	D;D	0.58620	0.983;0.971	P;P	0.56788	0.806;0.72	T	0.32455	-0.9906	9	0.56958	D	0.05	0.5801	5.4604	0.16614	0.6347:0.1379:0.2274:0.0	.	328;328	B4DZL4;Q92674	.;CENPI_HUMAN	C	328	.	ENSP00000218507:S328C	S	+	1	0	CENPI	100269218	0.000000	0.05858	0.003000	0.11579	0.375000	0.29983	1.051000	0.30417	0.268000	0.21939	0.481000	0.45027	AGT		0.358	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		63	126	0	0	0	1	0	63	126					T	100382562	A	T	100382562	3	4	158	1	0	0	0	0	1	0	0	0	3233	304	11	5	1016	5	CENPI	23	100382562	Missense_Mutation	SNP	A	TCGA-EL-A3CN-01A-12D-A20C-08		100382562	54887998	29	2742											
GUCY2F	2986	broad.mit.edu	37	X	108631736	108631736	+	Silent	SNP	G	G	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:108631736G>T	ENST00000218006.2	-	15	3229	c.2938C>A	c.(2938-2940)Cga>Aga	p.R980R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	980	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGGCCAATTCGAATTCGGACC	0.453																																						uc004eod.4																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(2938-2940)Cga>Aga		Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.							135	125	128					X																	108631736		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108631736G>T	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2938C>A	X.37:g.108631736G>T			Somatic				GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc022cch.1_Silent_p.R980R	p.R980R	NM_001522	NP_001513	WXS	Illumina GAIIx	Phase_I	P51841	GUC2F_HUMAN			14	3214	-			980			Guanylate cyclase.		Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.2938C>A	CCDS14545.1																																																																																				0.453	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		4	271	0	0	0	1	0	4	271					T	108631736	G	T	108631736	2	4	158	1	0	0	0	0	0	0	0	1	6898	1066	37	4		4	GUCY2F	23	108631736	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	8249174	108631736	46638824	30	2743											
F8	2157	broad.mit.edu	37	X	154157202	154157202	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:154157202G>A	ENST00000360256.4	-	14	5063	c.4863C>T	c.(4861-4863)aaC>aaT	p.N1621N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1621	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCACAAGCGTTCAGGGACA	0.413																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4861-4863)aaC>aaT		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						181	174	176					X																	154157202		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157202G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4863C>T	X.37:g.154157202G>A			Somatic					p.N1621N	NM_000132	NP_000123	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			13	5034	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)		1621			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.4863C>T	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	286	0	0	0	1	0	5	286					A	154157202	G	A	154157202	2	1	158	1	0	0	0	0	0	0	0	1	5350	1136	40	1		1	F8	23	154157202	Silent	SNP	G	TCGA-EL-A3CN-01A-12D-A20C-08	45525466	154157202	1113358	31	2744											
WFS1	7466	broad.mit.edu	37	4	6302918	6302918	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:6302918G>C	ENST00000226760.1	+	8	1566	c.1396G>C	c.(1396-1398)Ggc>Cgc	p.G466R	WFS1_ENST00000503569.1_Missense_Mutation_p.G466R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	466					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGTCACCGCCGGCCTGCTATC	0.642																																						uc003giy.3																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1396-1398)Ggc>Cgc		Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.							90	73	79					4																	6302918		2203	4300	6503	SO:0001583	missense	7466				ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302918G>C	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1396G>C	4.37:g.6302918G>C	ENSP00000226760:p.Gly466Arg		Somatic				WFS1_uc003gix.3_Missense_Mutation_p.G466R|WFS1_uc003giz.3_Missense_Mutation_p.G284R	p.G466R	NM_001145853	NP_005996	WXS	Illumina GAIIx	Phase_I	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	7	1562	+			466					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1396G>C	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.737584	0.30774	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.91180	-2.8;-2.8	4.77	4.77	0.60923	.	0.179901	0.47852	D	0.000204	D	0.94470	0.8220	M	0.73962	2.25	0.48762	D	0.999701	D	0.71674	0.998	D	0.64237	0.923	D	0.95007	0.8148	10	0.62326	D	0.03	-54.7841	16.785	0.85572	0.0:0.0:1.0:0.0	.	466	O76024	WFS1_HUMAN	R	466	ENSP00000423337:G466R;ENSP00000226760:G466R	ENSP00000226760:G466R	G	+	1	0	WFS1	6353819	0.987000	0.35691	0.980000	0.43619	0.041000	0.13682	3.712000	0.54875	2.195000	0.70347	0.457000	0.33378	GGC		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			6	75	0	0	0	1	0	6	75					C	6302918	G	C	6302918	3	2	159	1	0	0	0	0	1	0	0	0	17357	1116	39	4	1422	4	WFS1	4	6302918	Missense_Mutation	SNP	G	TCGA-EL-A3CO-01A-11D-A19J-08		6302918	184851358	1	2745											
AFM	173	broad.mit.edu	37	4	74357625	74357625	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr4:74357625T>G	ENST00000226355.3	+	8	973	c.880T>G	c.(880-882)Tct>Gct	p.S294A		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	294	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAACAAGATTCTATCTCCAG	0.358																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(880-882)Tct>Gct		Homo sapiens afamin (AFM), mRNA.							78	85	83					4																	74357625		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74357625T>G	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.880T>G	4.37:g.74357625T>G	ENSP00000226355:p.Ser294Ala		Somatic					p.S294A	NM_001133	NP_001124	WXS	Illumina GAIIx	Phase_I	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	911	+	Breast(15;0.00102)		294			Albumin 2.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.880T>G	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	0.906	-0.720690	0.03182	.	.	ENSG00000079557	ENST00000226355	T	0.72051	-0.62	5.06	-0.851	0.10716	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.412269	0.22881	N	0.054519	T	0.47728	0.1461	L	0.37850	1.14	0.20703	N	0.999867	B	0.12630	0.006	B	0.16289	0.015	T	0.14364	-1.0475	10	0.11485	T	0.65	.	2.0179	0.03502	0.1539:0.0887:0.3186:0.4388	.	294	P43652	AFAM_HUMAN	A	294	ENSP00000226355:S294A	ENSP00000226355:S294A	S	+	1	0	AFM	74576489	0.000000	0.05858	0.956000	0.39512	0.123000	0.20343	-1.437000	0.02419	-0.030000	0.13804	-0.718000	0.03613	TCT		0.358	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			5	104	0	0	0	1	0	5	104					G	74357625	T	G	74357625	3	3	159	1	0	0	0	0	1	0	0	0	361	1783	62	5	910	5	AFM	4	74357625	Missense_Mutation	SNP	T	TCGA-EL-A3CO-01A-11D-A19J-08	68054707	74357625	116796651	2	2746											
FLOT1	8870	broad.mit.edu	37	6	30707994	30707994	+	IGR	SNP	C	C	T			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr6:30707994C>T	ENST00000259874.5	-	0	1244				FLOT1_ENST00000376389.3_Missense_Mutation_p.A222T|FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Missense_Mutation_p.A174T|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						ATGTCATAGGCGGCCTTCTTC	0.562																																						uc003nrm.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(664-666)Gcc>Acc		Homo sapiens flotillin 1 (FLOT1), mRNA.							128	98	109					6																	30707994		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707994C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30707994C>T			Somatic				FLOT1_uc011dmr.2_Missense_Mutation_p.A174T	p.A222T	NM_005803	NP_005794	WXS	Illumina GAIIx	Phase_I	O75955	FLOT1_HUMAN			7	828	-			222					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.664G>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964862	0.34659	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000418160;ENST00000445853	T;T;T;D	0.96073	1.22;1.24;1.22;-3.9	4.74	1.9	0.25705	.	0.393156	0.24922	N	0.034529	D	0.85093	0.5618	L	0.49455	1.56	0.19575	N	0.999966	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.75659	-0.3241	10	0.22706	T	0.39	-16.361	8.0021	0.30304	0.0:0.7125:0.0:0.2875	.	174;222	B4DVY7;O75955	.;FLOT1_HUMAN	T	222;174;159;222;127;222	ENSP00000365569:A222T;ENSP00000394375:A174T;ENSP00000400615:A222T;ENSP00000398834:A222T	ENSP00000365569:A222T	A	-	1	0	FLOT1	30815973	0.057000	0.20700	0.146000	0.22360	0.992000	0.81027	0.570000	0.23653	0.586000	0.29626	0.609000	0.83330	GCC		0.562	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			4	51	0	0	0	1	0	4	51					T	30707994	C	T	30707994	1	4	159	0	1	0	0	0	0	0	0	0	5936	768	27	1		1	FLOT1	6	30707994	IGR	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		30707994	140407073	3	2747											
KCNMA1	3778	broad.mit.edu	37	10	79011015	79011015	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr10:79011015C>T	ENST00000286628.8	-	3	540		c.e3-1		KCNMA1_ENST00000372443.1_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000286627.5_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000354353.5_Splice_Site	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						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)	p.?(2)		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)	CTAAGACAACCTGTAAAAGAA	0.398											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jxn.3																			2	Unknown(2)	p.?(2)	lung(2)	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.e3-1		Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						116	119	118					10																	79011015		2203	4300	6503	SO:0001630	splice_region_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.chr10:79011015C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.541-1G>A	10.37:g.79011015C>T			Somatic	OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1187	KCNMA1_uc021ptu.1_Splice_Site_p.V127_splice|KCNMA1_uc001jxj.2_Splice_Site_p.V181_splice|KCNMA1_uc009xrt.1_Splice_Site|KCNMA1_uc001jxo.3_Splice_Site_p.V181_splice|KCNMA1_uc001jxm.3_Splice_Site_p.V181_splice|KCNMA1_uc001jxq.3_Splice_Site_p.V181_splice	p.V181_splice	NM_001161352	NP_001154824	WXS	Illumina GAIIx	Phase_I	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		3	718	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		181					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37	c.541_splice		.	.	.	.	.	.	.	.	.	.	C	24.0	4.481216	0.84747	.	.	ENSG00000156113	ENST00000372421;ENST00000372440;ENST00000372403;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5571	0.87894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNMA1	78681021	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.314000	0.72848	2.660000	0.90430	0.650000	0.86243	.		0.398	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Intron	3	35	0	0	0	1	0	3	35					T	79011015	C	T	79011015	5	4	159	1	0	0	0	0	0	0	1	0	8073	695	24	2	3446	2	KCNMA1	10	79011015	Splice_Site	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		79011015	56523732	4	2748											
C12orf71	728858	broad.mit.edu	37	12	27234923	27234923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr12:27234923delC	ENST00000429849.2	-	1	524	c.494delG	c.(493-495)ggcfs	p.G165fs		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	165										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CGGAGGGGAGCCGCTGGATAG	0.423																																						uc001rhq.3																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(493-495)ggcfs		Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.							34	32	32					12																	27234923		1859	4118	5977	SO:0001589	frameshift_variant	728858							g.chr12:27234923delC		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.494delG	12.37:g.27234923delC	ENSP00000413728:p.Gly165fs		Somatic					p.G165fs	NM_001080406	NP_001073875	WXS	Illumina GAIIx	Phase_I	A8MTZ7	CL071_HUMAN			0	533	-			165						Frame_Shift_Del	DEL	ENST00000429849.2	37	c.494delG	CCDS44851.1																																																																																				0.423	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		2	4						2	4	---	---	---	---	-	27234923	C	-	27234923	7	5	159	1	0	1	0	1	0	0	0	0	1712	739	26	0	323	0	C12orf71	12	27234923	Frame_Shift_Del	DEL	C	TCGA-EL-A3CO-01A-11D-A19J-08		27234923	106616972	5	2749											
SYNE2	23224	broad.mit.edu	37	14	64680925	64680925	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr14:64680925A>G	ENST00000344113.4	+	106	19282	c.19070A>G	c.(19069-19071)gAa>gGa	p.E6357G	SYNE2_ENST00000394768.2_Missense_Mutation_p.E2742G|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2742G|SYNE2_ENST00000441438.2_5'Flank|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6299G|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2991G|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6357G|SYNE2_ENST00000555022.1_Missense_Mutation_p.E235G|SYNE2_ENST00000554805.1_Missense_Mutation_p.E140G|SYNE2_ENST00000458046.2_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6357					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)			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)		TTGGAAGATGAAAAGGAGGCC	0.458																																						uc001xgl.3																			0				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.(19069-19071)gAa>gGa		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							84	88	87					14																	64680925		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64680925A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19070A>G	14.37:g.64680925A>G	ENSP00000341781:p.Glu6357Gly		Somatic				SYNE2_uc001xgm.3_Missense_Mutation_p.E6357G|SYNE2_uc010apy.3_Missense_Mutation_p.E2742G|SYNE2_uc001xgn.3_Missense_Mutation_p.E1319G|SYNE2_uc021rui.1_Missense_Mutation_p.E1344G|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E327G|SYNE2_uc001xgq.3_Missense_Mutation_p.E722G|SYNE2_uc001xgr.3_Missense_Mutation_p.E140G|SYNE2_uc010tsi.2_5'UTR|SYNE2_uc001xgs.3_5'UTR|SYNE2_uc001xgt.3_5'Flank	p.E6357G	NM_182914	NP_878918	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	105	19300	+			6357					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19070A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672456	0.47781	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.60040	0.31;3.71;0.35;0.22;3.75;3.71;3.43;2.86	5.12	5.12	0.69794	.	0.128180	0.34156	N	0.004218	T	0.74007	0.3660	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.971;0.964;0.993;0.999	T	0.77138	-0.2698	10	0.72032	D	0.01	.	15.0874	0.72165	1.0:0.0:0.0:0.0	.	2742;745;6299;6357;6357	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	G	6357;2742;6357;6299;6305;2991;2742;235;140	ENSP00000350719:E6357G;ENSP00000349969:E2742G;ENSP00000341781:E6357G;ENSP00000452570:E6299G;ENSP00000450831:E2991G;ENSP00000378249:E2742G;ENSP00000451009:E235G;ENSP00000450605:E140G	ENSP00000261678:E6305G	E	+	2	0	SYNE2	63750678	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.130000	0.71663	2.152000	0.67230	0.533000	0.62120	GAA		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	103	0	0	0	1	0	7	103					G	64680925	A	G	64680925	3	3	159	1	0	0	0	0	1	0	0	0	15443	246	9	3	19488	3	SYNE2	14	64680925	Missense_Mutation	SNP	A	TCGA-EL-A3CO-01A-11D-A19J-08		64680925	42668615	6	2750											
CDH8	1006	broad.mit.edu	37	16	61687935	61687935	+	Silent	SNP	G	G	A			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chr16:61687935G>A	ENST00000577390.1	-	12	2931	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D	CDH8_ENST00000299345.6_Silent_p.D659D|CDH8_ENST00000577730.1_Silent_p.D659D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	659					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTCTCGAACGTCTTCATCAT	0.393																																						uc002eog.2																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1975-1977)gaC>gaT		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							101	96	97					16																	61687935		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687935G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1977C>T	16.37:g.61687935G>A			Somatic					p.D659D	NM_001796	NP_001787	WXS	Illumina GAIIx	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2932	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	659					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1977C>T	CCDS10802.1																																																																																				0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	122	0	0	0	1	0	8	122					A	61687935	G	A	61687935	2	1	159	1	0	0	0	0	0	0	0	1	3116	1136	40	1		1	CDH8	16	61687935	Silent	SNP	G	TCGA-EL-A3CO-01A-11D-A19J-08		61687935	28666818	7	2751											
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CO-01A-11D-A19J-08	TCGA-EL-A3CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba1f48c1-8d38-4a91-ba08-a8ecb63cac88	bc492b5b-036e-4452-ac96-4fa312ce29ef	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_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	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																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.							143	133	136					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp		Somatic				SCARNA9L_uc010nfp.3_5'Flank	p.G9D	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			1	234	-			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	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	EIF1AX	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			15	56	0	0	0	1	0	15	56					T	20156731	C	T	20156731	3	4	159	1	0	0	0	0	1	0	0	0	4992	507	18	2	432	2	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-EL-A3CO-01A-11D-A19J-08		20156731	135113829	8	2752											
KIAA1109	84162	broad.mit.edu	37	4	123193357	123193357	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr4:123193357A>G	ENST00000264501.4	+	48	8616	c.8243A>G	c.(8242-8244)gAg>gGg	p.E2748G	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2748G|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2748G			Q2LD37	K1109_HUMAN	KIAA1109	2748					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						GTTGTGTTTGAGAATGAACAA	0.383																																						uc003ieh.3																			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.(8242-8244)gAg>gGg		Homo sapiens KIAA1109 (KIAA1109), mRNA.							93	88	90					4																	123193357		1912	4113	6025	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123193357A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8243A>G	4.37:g.123193357A>G	ENSP00000264501:p.Glu2748Gly		Somatic				KIAA1109_uc003iel.1_Missense_Mutation_p.E683G|KIAA1109_uc003iek.2_Missense_Mutation_p.E1367G	p.E2748G	NM_015312	NP_056127	WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			45	8288	+			2748					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8243A>G	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	22.5|22.5|22.5	4.302448|4.302448|4.302448	0.81136|0.81136|0.81136	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180|ENST00000419325	T;T;T|.|.	0.25749|.|.	2.36;2.36;1.78|.|.	5.87|5.87|5.87	5.87|5.87|5.87	0.94306|0.94306|0.94306	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60996|0.60996|.	0.2312|0.2312|.	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.53005|0.53005|0.53005	D|D|D	0.999962|0.999962|0.999962	D;D;D|.|.	0.76494|.|.	0.989;0.999;0.998|.|.	D;D;D|.|.	0.78314|.|.	0.979;0.991;0.979|.|.	T|T|.	0.57033|0.57033|.	-0.7880|-0.7880|.	10|5|.	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	16.2774|16.2774|16.2774	0.82651|0.82651|0.82651	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	2748;2747;2748|.|.	Q2LD37-6;Q2LD37-2;Q2LD37|.|.	.;.;K1109_HUMAN|.|.	G|G|W	2748|1321|705	ENSP00000264501:E2748G;ENSP00000373390:E2748G;ENSP00000389925:E2748G|.|.	ENSP00000264501:E2748G|.|.	E|R|X	+|+|+	2|1|3	0|2|0	KIAA1109|KIAA1109|KIAA1109	123412807|123412807|123412807	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	8.739000|8.739000|8.739000	0.91574|0.91574|0.91574	2.247000|2.247000|2.247000	0.74100|0.74100|0.74100	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	GAG|AGA|TGA		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	48	0	0	0	1	0	14	48					G	123193357	A	G	123193357	3	3	160	1	0	0	0	0	1	0	0	0	8208	304	11	3	8425	3	KIAA1109	4	123193357	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08		123193357	67960919	1	2753											
HK3	3101	broad.mit.edu	37	5	176314337	176314337	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr5:176314337C>T	ENST00000292432.5	-	12	1693	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	534	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|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)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATCCCCTCGCTCTGTGGGGG	0.637																																						uc003mfa.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e12-1		Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.							68	75	73					5																	176314337		2203	4300	6503	SO:0001630	splice_region_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314337C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1601-1G>A	5.37:g.176314337C>T			Somatic				HK3_uc003mez.3_Splice_Site_p.E90_splice	p.E534_splice	NM_002115	NP_002106	WXS	Illumina GAIIx	Phase_I	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1693	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	534			Catalytic.		Q8N1E7	Splice_Site	SNP	ENST00000292432.5	37	c.1601_splice	CCDS4407.1																																																																																				0.637	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Silent	13	39	0	0	0	1	0	13	39					T	176314337	C	T	176314337	5	4	160	1	0	0	0	0	0	0	1	0	7192	811	28	2	1201	2	HK3	5	176314337	Splice_Site	SNP	C	TCGA-EL-A3CP-01A-11D-A19J-08		176314337	4600923	2	2754											
TDRD6	221400	broad.mit.edu	37	6	46656684	46656684	+	Silent	SNP	G	G	A			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr6:46656684G>A	ENST00000316081.6	+	1	819	c.819G>A	c.(817-819)tcG>tcA	p.S273S	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.S273S|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	273					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCAGCGTCTCGCAGGAGATCC	0.627																																						uc003oyj.3																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(817-819)tcG>tcA		Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.							31	28	29					6																	46656684		2202	4300	6502	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656684G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.819G>A	6.37:g.46656684G>A			Somatic				TDRD6_uc010jze.3_Silent_p.S273S	p.S273S	NM_001010870	NP_001010870	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		0	1073	+			273					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.819G>A	CCDS34470.1																																																																																				0.627	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		3	23	0	0	0	1	0	3	23					A	46656684	G	A	46656684	2	1	160	1	0	0	0	0	0	0	0	1	15731	1074	38	1		1	TDRD6	6	46656684	Silent	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08		46656684	124458383	3	2755											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	57	0	0	0	1	0	35	57					T	140453136	A	T	140453136	3	4	160	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CP-01A-11D-A19J-08		140453136	18685527	4	2756											
DFNB31	25861	broad.mit.edu	37	9	117166263	117166263	+	Silent	SNP	G	G	T			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr9:117166263G>T	ENST00000362057.3	-	10	2499	c.2331C>A	c.(2329-2331)ggC>ggA	p.G777G	DFNB31_ENST00000374059.3_Silent_p.G426G|DFNB31_ENST00000265134.6_Silent_p.G394G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	777					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTTCCTCGGCCTGGGGCGC	0.652																																						uc004biz.4																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2329-2331)ggC>ggA		Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 1, mRNA.							84	73	77					9																	117166263		2203	4300	6503	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117166263G>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2331C>A	9.37:g.117166263G>T			Somatic				DFNB31_uc004bix.3_Silent_p.G426G|DFNB31_uc004biy.4_Silent_p.G394G|DFNB31_uc004bja.4_Silent_p.G776G	p.G777G	NM_015404	NP_001077354	WXS	Illumina GAIIx	Phase_I	Q9P202	WHRN_HUMAN			9	2986	-			777					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.2331C>A	CCDS6806.1																																																																																				0.652	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		41	84	0	0	0	1	0	41	84					T	117166263	G	T	117166263	2	4	160	1	0	0	0	0	0	0	0	1	4455	1190	42	4		4	DFNB31	9	117166263	Silent	SNP	G	TCGA-EL-A3CP-01A-11D-A19J-08		117166263	24047168	5	2757											
ZNF407	55628	broad.mit.edu	37	18	72346448	72346448	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr18:72346448T>C	ENST00000299687.5	+	1	3473	c.3473T>C	c.(3472-3474)tTc>tCc	p.F1158S	ZNF407_ENST00000309902.6_Missense_Mutation_p.F1158S|ZNF407_ENST00000582337.1_Missense_Mutation_p.F1158S|ZNF407_ENST00000577538.1_Missense_Mutation_p.F1158S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTAATTTCAATGAAGAC	0.383																																						uc002llw.2																			0		p.N1157H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(3472-3474)tTc>tCc		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							63	65	64					18																	72346448		1879	4135	6014	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346448T>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3473T>C	18.37:g.72346448T>C	ENSP00000299687:p.Phe1158Ser		Somatic				ZNF407_uc010xfc.2_Missense_Mutation_p.F1158S|ZNF407_uc010dqu.2_Missense_Mutation_p.F1158S|ZNF407_uc002llu.2_Missense_Mutation_p.F1157S	p.F1158S	NM_017757	NP_060227	WXS	Illumina GAIIx	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	0	3526	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1158					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.3473T>C	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232794	0.22626	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08984	3.03;3.47	5.86	4.71	0.59529	.	0.527164	0.19270	N	0.118421	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;P;B	0.37276	0.435;0.589;0.255	B;B;B	0.27500	0.08;0.058;0.026	T	0.44034	-0.9354	10	0.45353	T	0.12	.	2.2165	0.03961	0.1908:0.081:0.1334:0.5948	.	1158;1158;1158	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	1158	ENSP00000299687:F1158S;ENSP00000310359:F1158S	ENSP00000299687:F1158S	F	+	2	0	ZNF407	70475436	0.020000	0.18652	0.135000	0.22099	0.737000	0.42083	2.225000	0.42954	-0.173000	0.10761	0.655000	0.94253	TTC		0.383	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		21	82	0	0	0	1	0	21	82					C	72346448	T	C	72346448	3	2	160	1	0	0	0	0	1	0	0	0	17884	1783	62	3	3475	3	ZNF407	18	72346448	Missense_Mutation	SNP	T	TCGA-EL-A3CP-01A-11D-A19J-08		72346448	5730800	6	2758											
AJAP1	55966	broad.mit.edu	37	1	4832584	4832584	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:4832584C>T	ENST00000378191.4	+	4	1543	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	AJAP1_ENST00000378190.3_Splice_Site_p.R388*	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	388	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TAATGGAAACCGGTAAGCTCG	0.592																																						uc001alm.1																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.e4+1		Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.							36	38	37					1																	4832584		2203	4300	6503	SO:0001630	splice_region_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832584C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1163+1C>T	1.37:g.4832584C>T			Somatic				AJAP1_uc001aln.3_Splice_Site_p.R388_splice	p.R388_splice	NM_001042478	NP_061324	WXS	Illumina GAIIx	Phase_I	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1544	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	388			Targeting signals.		Q9Y229	Splice_Site	SNP	ENST00000378191.4	37	c.1163_splice	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869872	0.97049	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	.	.	.	5.12	1.66	0.24008	.	0.110724	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7829	11.906	0.52713	0.7006:0.2994:0.0:0.0	.	.	.	.	X	388	.	ENSP00000367432:R388X	R	+	1	2	AJAP1	4732444	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.713000	0.47194	0.476000	0.27440	0.561000	0.74099	CGA		0.592	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	Nonsense_Mutation	4	26	0	0	0	1	0	4	26					T	4832584	C	T	4832584	5	4	161	1	0	0	0	0	0	0	1	0	438	666	23	1	1176	1	AJAP1	1	4832584	Splice_Site	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		4832584	244418037	1	2759											
LUZP1	7798	broad.mit.edu	37	1	23418878	23418878	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:23418878C>A	ENST00000302291.4	-	4	2678	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	LUZP1_ENST00000418342.1_Missense_Mutation_p.G626V|LUZP1_ENST00000314174.5_Missense_Mutation_p.G626V|LUZP1_ENST00000374623.3_Missense_Mutation_p.G626V			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	626					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)		TTGATTAACCCCTTCTTTATG	0.473																																						uc001bgk.2																			0		p.E625Q(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1876-1878)gGg>gTg		Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.							181	180	180					1																	23418878		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418878C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1877G>T	1.37:g.23418878C>A	ENSP00000303758:p.Gly626Val		Somatic				LUZP1_uc010odv.1_Missense_Mutation_p.G626V|LUZP1_uc001bgl.3_Missense_Mutation_p.G626V|LUZP1_uc001bgm.1_Missense_Mutation_p.G626V	p.G626V	NM_033631	NP_361013	WXS	Illumina GAIIx	Phase_I	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)	3	2427	-		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)	626					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1877G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436190	0.25813	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15017	2.68;2.68;2.68;2.46	5.55	2.2	0.27929	.	0.152547	0.30714	N	0.009034	T	0.17874	0.0429	L	0.51422	1.61	0.40179	D	0.977273	P;D	0.53462	0.825;0.96	P;P	0.47891	0.463;0.56	T	0.02339	-1.1174	10	0.54805	T	0.06	.	5.8231	0.18538	0.0:0.4951:0.3329:0.1721	.	626;626	Q86V48-2;Q86V48	.;LUZP1_HUMAN	V	626	ENSP00000393460:G626V;ENSP00000363752:G626V;ENSP00000303758:G626V;ENSP00000313705:G626V	ENSP00000303758:G626V	G	-	2	0	LUZP1	23291465	0.017000	0.18338	0.716000	0.30569	0.404000	0.30871	0.164000	0.16542	1.324000	0.45282	0.650000	0.86243	GGG		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	149	0	0	0	1	0	4	149					A	23418878	C	A	23418878	3	1	161	1	0	0	0	0	1	0	0	0	9086	623	22	4	1361	4	LUZP1	1	23418878	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	18586294	23418878	225831743	2	2760											
HIST3H2A	92815	broad.mit.edu	37	1	228645400	228645400	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:228645400T>C	ENST00000366695.2	-	1	160	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	40					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGCTCCGAATAGTTGCCCTT	0.721																																						uc001hsy.3																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(118-120)tAt>tGt		Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.							16	20	19					1																	228645400		2197	4295	6492	SO:0001583	missense	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645400T>C	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"Histones / Replication-dependent"	20507	protein-coding gene	gene with protein product		615015	"histone 3, H2a"			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.119A>G	1.37:g.228645400T>C	ENSP00000355656:p.Tyr40Cys		Somatic				HIST3H2BB_uc001hsz.3_5'Flank	p.Y40C	NM_033445	NP_254280	WXS	Illumina GAIIx	Phase_I	Q7L7L0	H2A3_HUMAN			0	161	-		Prostate(94;0.183)	40					B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	c.119A>G	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142140	0.37825	.	.	ENSG00000181218	ENST00000366695	T	0.69806	-0.43	4.07	4.07	0.47477	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.43747	D	0.000529	D	0.85639	0.5743	H	0.99130	4.44	0.43835	D	0.996416	D	0.56035	0.974	P	0.54664	0.758	D	0.90450	0.4438	10	0.87932	D	0	.	11.646	0.51261	0.0:0.0:0.0:1.0	.	40	Q7L7L0	H2A3_HUMAN	C	40	ENSP00000355656:Y40C	ENSP00000355656:Y40C	Y	-	2	0	HIST3H2A	226712023	1.000000	0.71417	0.124000	0.21820	0.151000	0.21798	7.262000	0.78410	2.062000	0.61559	0.533000	0.62120	TAT		0.721	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		3	20	0	0	0	1	0	3	20					C	228645400	T	C	228645400	3	2	161	1	0	0	0	0	1	0	0	0	7182	1406	49	3	277	3	HIST3H2A	1	228645400	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	205226522	228645400	20605221	3	2761											
DNMT3A	1788	broad.mit.edu	37	2	25469564	25469564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr2:25469564G>A	ENST00000264709.3	-	10	1541	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q402*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q213*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q179*|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	402	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTGTTCTGCACCTCCACG	0.637			"Mis, F, N, S"		AML																																	uc002rgc.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1204-1206)Cag>Tag		Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.							78	76	76					2																	25469564		2203	4299	6502	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469564G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1204C>T	2.37:g.25469564G>A	ENSP00000264709:p.Gln402*		Somatic				DNMT3A_uc002rgd.3_Nonsense_Mutation_p.Q402*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.Q213*	p.Q402*	NM_022552	NP_783328	WXS	Illumina GAIIx	Phase_I	Q9Y6K1	DNM3A_HUMAN			9	1461	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		402			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.1204C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	38	6.959320	0.97964	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.87	4.87	0.63330	.	0.202763	0.42294	D	0.000724	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-10.7878	15.5438	0.76077	0.0:0.0:1.0:0.0	.	.	.	.	X	213;402;402;179	.	ENSP00000264709:Q402X	Q	-	1	0	DNMT3A	25323068	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.285000	0.65633	2.535000	0.85469	0.655000	0.94253	CAG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		5	102	0	0	0	1	0	5	102					A	25469564	G	A	25469564	4	1	161	1	0	0	0	0	0	1	0	0	4676	1328	46	2	1590	2	DNMT3A	2	25469564	Nonsense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		25469564	217729809	4	2762											
TMF1	7110	broad.mit.edu	37	3	69088082	69088082	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr3:69088082C>G	ENST00000398559.2	-	7	2122	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.E639Q|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	636					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGATCTTTCTCTTGGCGTTCT	0.373																																						uc011bfx.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1915-1917)Gag>Cag		Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.							144	131	135					3																	69088082		1845	4084	5929	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69088082C>G		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1906G>C	3.37:g.69088082C>G	ENSP00000381567:p.Glu636Gln		Somatic				TMF1_uc003dnn.3_Missense_Mutation_p.E636Q	p.E639Q	NM_007114	NP_009045	WXS	Illumina GAIIx	Phase_I	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	6	2162	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	636					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.1915G>C	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815256	0.70912	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.21932	1.98;1.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.47005	-0.9150	10	0.54805	T	0.06	-15.5026	19.486	0.95028	0.0:1.0:0.0:0.0	.	639;636	P82094-2;P82094	.;TMF1_HUMAN	Q	636;639;552	ENSP00000381567:E636Q;ENSP00000438706:E639Q	ENSP00000348582:E552Q	E	-	1	0	TMF1	69170772	1.000000	0.71417	0.999000	0.59377	0.228000	0.25075	7.670000	0.83925	2.615000	0.88500	0.573000	0.79308	GAG		0.373	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		4	40	0	0	0	1	0	4	40					G	69088082	C	G	69088082	3	3	161	1	0	0	0	0	1	0	0	0	16225	922	32	4	1419	4	TMF1	3	69088082	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		69088082	128934348	5	2763											
KIAA1530	57654	broad.mit.edu	37	4	1347109	1347109	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:1347109C>G	ENST00000389851.4	+	5	1289	c.842C>G	c.(841-843)tCa>tGa	p.S281*	UVSSA_ENST00000511216.1_Nonsense_Mutation_p.S281*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.S281*	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	281					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GGTGACCCCTCAGATGAGGAC	0.662																																						uc003gde.4																			0											c.(841-843)tCa>tGa		Homo sapiens KIAA1530 (KIAA1530), mRNA.							17	18	18					4																	1347109		2194	4284	6478	SO:0001587	stop_gained	57654							g.chr4:1347109C>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.842C>G	4.37:g.1347109C>G	ENSP00000374501:p.Ser281*		Somatic					p.S281*	NM_020894	NP_065945	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			4	1289	+			281					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Nonsense_Mutation	SNP	ENST00000389851.4	37	c.842C>G	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808368	0.90707	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	.	.	.	2.83	-0.72	0.11195	.	6.878550	0.00465	N	0.000110	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	2.0479	0.03564	0.1427:0.4563:0.141:0.26	.	.	.	.	X	281	.	ENSP00000374501:S281X	S	+	2	0	KIAA1530	1337109	0.001000	0.12720	0.058000	0.19502	0.202000	0.24057	0.126000	0.15769	0.024000	0.15214	0.591000	0.81541	TCA		0.662	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		4	18	0	0	0	1	0	4	18					G	1347109	C	G	1347109	4	3	161	1	0	0	0	0	0	1	0	0	8241	838	29	4	856	4	KIAA1530	4	1347109	Nonsense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		1347109	189807167	6	2764											
KIAA0232	9778	broad.mit.edu	37	4	6826286	6826286	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:6826286T>G	ENST00000307659.5	+	3	561	c.106T>G	c.(106-108)Ttg>Gtg	p.L36V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L36V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	36							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTCATGCTTTGGGTCCAGT	0.488																																						uc003gjr.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(106-108)Ttg>Gtg		Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.							198	199	198					4																	6826286		1977	4164	6141	SO:0001583	missense	9778						ATP binding	g.chr4:6826286T>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.106T>G	4.37:g.6826286T>G	ENSP00000303928:p.Leu36Val		Somatic				KIAA0232_uc003gjq.4_Missense_Mutation_p.L36V	p.L36V	NM_014743	NP_055558	WXS	Illumina GAIIx	Phase_I	Q92628	K0232_HUMAN			2	569	+			36					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.106T>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834290	0.71373	.	.	ENSG00000170871	ENST00000508423;ENST00000425103;ENST00000307659	.	.	.	5.93	-3.62	0.04543	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.53249	1.67	0.39055	D	0.960419	D	0.89917	1.0	D	0.85130	0.997	T	0.64245	-0.6453	8	.	.	.	-13.4343	12.4188	0.55508	0.0:0.4348:0.0:0.5652	.	36	Q92628	K0232_HUMAN	V	36	.	.	L	+	1	2	KIAA0232	6877187	1.000000	0.71417	0.254000	0.24359	0.999000	0.98932	1.524000	0.35942	-0.627000	0.05589	0.533000	0.62120	TTG		0.488	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		4	101	0	0	0	1	0	4	101					G	6826286	T	G	6826286	3	3	161	1	0	0	0	0	1	0	0	0	8163	1838	64	5	108	5	KIAA0232	4	6826286	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	5479177	6826286	184327990	7	2765											
FASTKD3	79072	broad.mit.edu	37	5	7868025	7868025	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:7868025G>A	ENST00000264669.5	-	2	308	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	58					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						TGGGCATGATGGAATTTGACC	0.433																																						uc003jeb.3																			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.(172-174)Cat>Tat		Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.							92	95	94					5																	7868025		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868025G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.172C>T	5.37:g.7868025G>A	ENSP00000264669:p.His58Tyr		Somatic				FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	p.H58Y	NM_024091	NP_076996	WXS	Illumina GAIIx	Phase_I	Q14CZ7	FAKD3_HUMAN			1	344	-			58					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.172C>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	3.204	-0.163170	0.06502	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24538	1.85;1.85;1.85	5.05	3.26	0.37387	.	0.763697	0.12048	N	0.504390	T	0.21962	0.0529	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.25152	-1.0140	10	0.20519	T	0.43	-1.4451	9.8793	0.41222	0.1615:0.0:0.8385:0.0	.	58	Q14CZ7	FAKD3_HUMAN	Y	58;58;41	ENSP00000264669:H58Y;ENSP00000426008:H58Y;ENSP00000422443:H41Y	ENSP00000264669:H58Y	H	-	1	0	FASTKD3	7921025	0.082000	0.21442	0.002000	0.10522	0.001000	0.01503	1.954000	0.40362	0.718000	0.32166	-0.136000	0.14681	CAT		0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		12	51	0	0	0	1	0	12	51					A	7868025	G	A	7868025	3	1	161	1	0	0	0	0	1	0	0	0	5687	1348	47	2	1840	2	FASTKD3	5	7868025	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		7868025	173047235	8	2766											
HOMER1	9456	broad.mit.edu	37	5	78752789	78752789	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:78752789T>A	ENST00000334082.6	-	2	1500	c.58A>T	c.(58-60)Aca>Tca	p.T20S	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.T20S|HOMER1_ENST00000508576.1_Missense_Mutation_p.T20S	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	20	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TTCTTCTTTGTGTTTGGGTCA	0.423																																						uc003kfy.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(58-60)Aca>Tca		Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.							251	235	240					5																	78752789		1900	4119	6019	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752789T>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.58A>T	5.37:g.78752789T>A	ENSP00000334382:p.Thr20Ser		Somatic				HOMER1_uc010jab.3_Missense_Mutation_p.T20S|HOMER1_uc010jac.3_Missense_Mutation_p.T20S|HOMER1_uc010jad.3_Intron	p.T20S	NM_004272	NP_004263	WXS	Illumina GAIIx	Phase_I	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	1	1161	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	20			WH1.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.58A>T	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970294	0.74246	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98649	-5.05;-5.05;-5.05	5.93	5.93	0.95920	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.79805	2.47	0.80722	D	1	P;D;D	0.89917	0.695;0.963;1.0	P;P;D	0.87578	0.768;0.844;0.998	D	0.99780	1.1027	10	0.62326	D	0.03	-9.2544	16.3766	0.83401	0.0:0.0:0.0:1.0	.	20;20;20	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	S	20	ENSP00000334382:T20S;ENSP00000426651:T20S;ENSP00000282260:T20S	ENSP00000282260:T20S	T	-	1	0	HOMER1	78788545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	ACA		0.423	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		4	118	0	0	0	1	0	4	118					A	78752789	T	A	78752789	3	1	161	1	0	0	0	0	1	0	0	0	7278	1696	59	5	1038	5	HOMER1	5	78752789	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	70884764	78752789	102162471	9	2767											
DMXL1	1657	broad.mit.edu	37	5	118506950	118506950	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:118506950T>G	ENST00000311085.8	+	24	6544	c.6464T>G	c.(6463-6465)aTt>aGt	p.I2155S	DMXL1_ENST00000539542.1_Missense_Mutation_p.I2155S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2155										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)		ATGGAATTGATTTTGCTTTTG	0.353																																						uc010jcl.1																			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.(6463-6465)aTt>aGt		Homo sapiens Dmx-like 1 (DMXL1), mRNA.							56	56	56					5																	118506950		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118506950T>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6464T>G	5.37:g.118506950T>G	ENSP00000309690:p.Ile2155Ser		Somatic				DMXL1_uc003ksd.2_Missense_Mutation_p.I2155S|DMXL1_uc021ycw.1_Missense_Mutation_p.I1982S	p.I2155S	NM_005509	NP_005500	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	6645	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2155						Missense_Mutation	SNP	ENST00000311085.8	37	c.6464T>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717334	0.68844	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78003	-1.14;-1.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.972	D	0.87741	0.2585	10	0.87932	D	0	-18.385	15.1943	0.73075	0.0:0.0:0.0:1.0	.	2155;2155	F5H269;Q9Y485	.;DMXL1_HUMAN	S	2155	ENSP00000309690:I2155S;ENSP00000439479:I2155S	ENSP00000309690:I2155S	I	+	2	0	DMXL1	118534849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.258000	0.72487	1.996000	0.58369	0.460000	0.39030	ATT		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		4	33	0	0	0	1	0	4	33					G	118506950	T	G	118506950	3	3	161	1	0	0	0	0	1	0	0	0	4594	1493	52	5	6558	5	DMXL1	5	118506950	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	39754161	118506950	62408310	10	2768											
PCDHA3	56145	broad.mit.edu	37	5	140181292	140181292	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:140181292C>T	ENST00000522353.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y170Y|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	170	Cadherin 2. {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(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGACTTACAGTCTTGATT	0.393																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(508-510)taC>taT		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							74	78	77					5																	140181292		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181292C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.510C>T	5.37:g.140181292C>T			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.Y170Y	p.Y170Y	NM_018906	NP_061729	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	510	+			185			Cadherin 2.		O75286	Silent	SNP	ENST00000522353.2	37	c.510C>T	CCDS54915.1																																																																																				0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	68	0	0	0	1	0	6	68					T	140181292	C	T	140181292	2	4	161	1	0	0	0	0	0	0	0	1	11525	489	17	2		2	PCDHA3	5	140181292	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	21674342	140181292	40733968	11	2769											
HIST1H2AH	85235	broad.mit.edu	37	6	27114964	27114964	+	Silent	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr6:27114964T>G	ENST00000377459.1	+	1	104	c.57T>G	c.(55-57)tcT>tcG	p.S19S	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	19						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						AGACCCGCTCTTCTCGGGCTG	0.622																																						uc003niz.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(55-57)tcT>tcG		Homo sapiens histone cluster 1, H2ah (HIST1H2AH), mRNA.							63	71	68					6																	27114964		2203	4300	6503	SO:0001819	synonymous_variant	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114964T>G	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"Histones / Replication-dependent"	13671	protein-coding gene	gene with protein product		615013	"histone 1, H2ah"			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.57T>G	6.37:g.27114964T>G			Somatic				HIST1H2BK_uc003nix.2_5'Flank|Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_5'Flank|MIR3143_uc021yoz.1_5'Flank	p.S19S	NM_080596	NP_542163	WXS	Illumina GAIIx	Phase_I	Q96KK5	H2A1H_HUMAN			0	57	+			19						Silent	SNP	ENST00000377459.1	37	c.57T>G	CCDS4622.1																																																																																				0.622	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		8	70	0	0	0	1	0	8	70					G	27114964	T	G	27114964	2	3	161	1	0	0	0	0	0	0	0	1	7134	1596	56	5		5	HIST1H2AH	6	27114964	Silent	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08		27114964	144000103	12	2770											
TBL2	26608	broad.mit.edu	37	7	72985120	72985120	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:72985120A>C	ENST00000305632.5	-	7	1302	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	TBL2_ENST00000432538.1_Missense_Mutation_p.I318S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	354							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)				GTAGAGATGAATACTACTGCC	0.622																																						uc003tyh.3																			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.(1060-1062)aTt>aGt		Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.							69	75	73					7																	72985120		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72985120A>C	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1061T>G	7.37:g.72985120A>C	ENSP00000307260:p.Ile354Ser		Somatic				TBL2_uc011kex.2_Missense_Mutation_p.I318S|TBL2_uc010lbg.3_Missense_Mutation_p.I259S|TBL2_uc003tyi.3_Missense_Mutation_p.I189S|TBL2_uc011key.2_Missense_Mutation_p.I225S	p.I354S	NM_012453	NP_036585	WXS	Illumina GAIIx	Phase_I	Q9Y4P3	TBL2_HUMAN			6	1195	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	354					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.1061T>G	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619974	0.87460	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.38240	1.15;1.15	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.248512	0.43260	D	0.000594	T	0.61689	0.2367	M	0.82433	2.59	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.64595	0.878;0.927	T	0.67565	-0.5638	10	0.87932	D	0	-14.7731	14.4016	0.67050	1.0:0.0:0.0:0.0	.	318;354	E9PF19;Q9Y4P3	.;TBL2_HUMAN	S	354;354;318	ENSP00000307260:I354S;ENSP00000413979:I318S	ENSP00000307260:I354S	I	-	2	0	TBL2	72623056	1.000000	0.71417	0.348000	0.25681	0.991000	0.79684	8.962000	0.93254	2.284000	0.76573	0.533000	0.62120	ATT		0.622	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		15	83	0	0	0	1	0	15	83					C	72985120	A	C	72985120	3	2	161	1	0	0	0	0	1	0	0	0	15639	101	4	5	286	5	TBL2	7	72985120	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08		72985120	86153543	13	2771											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	46	0	0	0	1	0	28	46					T	140453136	A	T	140453136	3	4	161	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08	67468016	140453136	18685527	14	2772											
DLC1	10395	broad.mit.edu	37	8	12956022	12956022	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:12956022A>G	ENST00000276297.4	-	10	3462	c.3053T>C	c.(3052-3054)cTa>cCa	p.L1018P	DLC1_ENST00000512044.2_Missense_Mutation_p.L615P|DLC1_ENST00000358919.2_Missense_Mutation_p.L581P|DLC1_ENST00000520226.1_Missense_Mutation_p.L507P|DLC1_ENST00000510318.1_5'Flank	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1018					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTAATCTGTAGTGATACAGA	0.502																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3052-3054)cTa>cCa		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							95	86	89					8																	12956022		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956022A>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3053T>C	8.37:g.12956022A>G	ENSP00000276297:p.Leu1018Pro		Somatic				DLC1_uc003wwk.1_Missense_Mutation_p.L581P|DLC1_uc003wwl.1_Missense_Mutation_p.L615P|DLC1_uc011kxx.1_Missense_Mutation_p.L507P	p.L1018P	NM_182643	NP_872584	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			9	3497	-			1018					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3053T>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430952	0.43122	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07908	3.41;3.16;3.16;3.15	4.8	3.67	0.42095	.	0.091551	0.49305	D	0.000152	T	0.10252	0.0251	L	0.58925	1.835	0.80722	D	1	B;B;B	0.19200	0.014;0.034;0.021	B;B;B	0.20384	0.022;0.029;0.013	T	0.05500	-1.0881	10	0.44086	T	0.13	.	11.0334	0.47787	0.923:0.0:0.077:0.0	.	1018;615;581	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	P	1018;581;615;507	ENSP00000276297:L1018P;ENSP00000351797:L581P;ENSP00000422595:L615P;ENSP00000428028:L507P	ENSP00000276297:L1018P	L	-	2	0	DLC1	13000393	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.280000	0.78610	2.150000	0.67090	0.528000	0.53228	CTA		0.502	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	53	0	0	0	1	0	4	53					G	12956022	A	G	12956022	3	3	161	1	0	0	0	0	1	0	0	0	4550	420	15	3	1569	3	DLC1	8	12956022	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08		12956022	133408000	15	2773											
POLR3D	661	broad.mit.edu	37	8	22107993	22107993	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:22107993C>T	ENST00000397802.4	+	8	1374	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	POLR3D_ENST00000306433.4_Missense_Mutation_p.P387S			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	387					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGTATGTTCCCCTGATTTTGA	0.547																																						uc003xbl.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(1159-1161)Cct>Tct		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.							205	178	187					8																	22107993		2203	4300	6503	SO:0001583	missense	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22107993C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.1159C>T	8.37:g.22107993C>T	ENSP00000380904:p.Pro387Ser		Somatic				POLR3D_uc003xbm.3_Missense_Mutation_p.P387S|POLR3D_uc011kze.2_Non-coding_Transcript	p.P387S	NM_001722	NP_001713	WXS	Illumina GAIIx	Phase_I	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	8	1242	+			387					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.1159C>T	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299019	0.81025	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.42	4.55	0.56014	.	0.049207	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88229	0.2902	9	0.87932	D	0	-15.4727	13.1527	0.59498	0.0:0.9214:0.0:0.0786	.	387	P05423	RPC4_HUMAN	S	387	.	ENSP00000303088:P387S	P	+	1	0	POLR3D	22163938	1.000000	0.71417	0.326000	0.25389	0.887000	0.51463	7.658000	0.83755	1.286000	0.44565	0.491000	0.48974	CCT		0.547	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		5	83	0	0	0	1	0	5	83					T	22107993	C	T	22107993	3	4	161	1	0	0	0	0	1	0	0	0	12231	623	22	2	1189	2	POLR3D	8	22107993	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	9151971	22107993	124256029	16	2774											
VPS13B	157680	broad.mit.edu	37	8	100832176	100832176	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:100832176C>T	ENST00000358544.2	+	49	9006	c.8895C>T	c.(8893-8895)agC>agT	p.S2965S	VPS13B_ENST00000357162.2_Silent_p.S2940S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2965					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGGGATAGCCCAATGCGAG	0.393																																					Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8893-8895)agC>agT		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							135	127	130					8																	100832176		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100832176C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8895C>T	8.37:g.100832176C>T			Somatic				VPS13B_uc003yiw.3_Silent_p.S2940S	p.S2965S	NM_017890	NP_060360	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		48	9006	+	Breast(36;3.73e-07)		2965					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8895C>T	CCDS6280.1																																																																																				0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		19	48	0	0	0	1	0	19	48					T	100832176	C	T	100832176	2	4	161	1	0	0	0	0	0	0	0	1	17187	738	26	2		2	VPS13B	8	100832176	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	78724183	100832176	45531846	17	2775											
OXR1	55074	broad.mit.edu	37	8	107722934	107722934	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:107722934T>C	ENST00000442977.2	+	9	1811	c.1712T>C	c.(1711-1713)tTt>tCt	p.F571S	OXR1_ENST00000312046.6_Missense_Mutation_p.F563S|OXR1_ENST00000452423.2_Missense_Mutation_p.F60S|OXR1_ENST00000517566.2_Missense_Mutation_p.F570S|OXR1_ENST00000531443.1_Missense_Mutation_p.F570S|OXR1_ENST00000445937.1_Missense_Mutation_p.F570S	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	571	Mediates oxidative antimutator activity.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGGAAAACGTTTGTATCTCAA	0.378																																						uc011lht.2																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1711-1713)tTt>tCt		Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.							124	116	118					8																	107722934		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722934T>C	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1712T>C	8.37:g.107722934T>C	ENSP00000405424:p.Phe571Ser		Somatic				OXR1_uc022azp.1_Missense_Mutation_p.F570S|OXR1_uc003ymf.3_Missense_Mutation_p.F570S|OXR1_uc011lhu.2_Missense_Mutation_p.F563S|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.F268S	p.F571S	NM_001198532	NP_001185461	WXS	Illumina GAIIx	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	1811	+			571					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1712T>C	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861530	0.91433	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046	T;T;T;T;T;T	0.20598	2.48;2.48;2.39;2.06;2.39;2.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.80183	2.485	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	0.53627	-0.8412	10	0.59425	D	0.04	-18.5575	16.2271	0.82306	0.0:0.0:0.0:1.0	.	563;571;570;570	Q8N573-2;Q8N573;D3HIS6;Q8N573-5	.;OXR1_HUMAN;.;.	S	570;570;570;60;571;563	ENSP00000402918:F570S;ENSP00000431966:F570S;ENSP00000429205:F570S;ENSP00000395032:F60S;ENSP00000405424:F571S;ENSP00000311026:F563S	ENSP00000311026:F563S	F	+	2	0	OXR1	107792110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.982000	0.88131	2.234000	0.73211	0.460000	0.39030	TTT		0.378	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		5	40	0	0	0	1	0	5	40					C	107722934	T	C	107722934	3	2	161	1	0	0	0	0	1	0	0	0	11334	1841	64	3	1946	3	OXR1	8	107722934	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	6890758	107722934	38641088	18	2776											
TRPS1	7227	broad.mit.edu	37	8	116599646	116599646	+	Missense_Mutation	SNP	T	T	C	rs376187822		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:116599646T>C	ENST00000220888.5	-	4	2402	c.2243A>G	c.(2242-2244)aAt>aGt	p.N748S	TRPS1_ENST00000519674.1_Missense_Mutation_p.N748S|TRPS1_ENST00000395715.3_Missense_Mutation_p.N761S|TRPS1_ENST00000520276.1_Missense_Mutation_p.N752S|TRPS1_ENST00000519076.1_Missense_Mutation_p.N502S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	748	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTTAGCAGATTGTAGACCCT	0.498									Langer-Giedion syndrome																													uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2281-2283)aAt>aGt		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.		T	SER/ASN	0,3902		0,0,1951	192	198	196		2282	5.0	1.0	8		196	2,8278		0,2,4138	no	missense	TRPS1	NM_014112.2	46	0,2,6089	CC,CT,TT		0.0242,0.0,0.0164	benign	761/1295	116599646	2,12180	1951	4140	6091	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599646T>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2243A>G	8.37:g.116599646T>C	ENSP00000220888:p.Asn748Ser		Somatic				TRPS1_uc011lhy.2_Missense_Mutation_p.N752S|TRPS1_uc003ynz.3_Missense_Mutation_p.N748S|TRPS1_uc010mcy.3_Missense_Mutation_p.N748S	p.N761S	NM_014112	NP_054831	WXS	Illumina GAIIx	Phase_I	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2860	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		748			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2282A>G		.	.	.	.	.	.	.	.	.	.	T	2.027	-0.423429	0.04734	0.0	2.42E-4	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.97752	-4.5;-4.48;-4.52;-4.48;1.26	5.86	4.98	0.66077	.	0.196398	0.56097	N	0.000032	D	0.89385	0.6700	N	0.02247	-0.625	0.34350	D	0.689771	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.85372	0.1114	10	0.02654	T	1	.	10.4328	0.44417	0.0:0.8498:0.0:0.1502	.	752;748;761	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	S	761;748;502;752;748	ENSP00000379065:N761S;ENSP00000220888:N748S;ENSP00000428910:N502S;ENSP00000428680:N752S;ENSP00000429174:N748S	ENSP00000220888:N748S	N	-	2	0	TRPS1	116668821	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.793000	0.47845	1.459000	0.47892	-0.242000	0.12053	AAT		0.498	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		8	162	0	0	0	1	0	8	162					C	116599646	T	C	116599646	3	2	161	1	0	0	0	0	1	0	0	0	16590	1493	52	3	1614	3	TRPS1	8	116599646	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08	8876712	116599646	29764376	19	2777											
BAI1	575	broad.mit.edu	37	8	143623678	143623678	+	Silent	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:143623678G>A	ENST00000517894.1	+	28	4977	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E	BAI1_ENST00000323289.5_Silent_p.E1361E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1361					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCCCAAGGAGGAGCCCAAGT	0.697																																						uc003ywm.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(4081-4083)gaG>gaA		Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.							26	36	33					8																	143623678		2096	4204	6300	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623678G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4083G>A	8.37:g.143623678G>A			Somatic					p.E1361E	NM_001702	NP_001693	WXS	Illumina GAIIx	Phase_I	O14514	BAI1_HUMAN			26	4266	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1361						Silent	SNP	ENST00000517894.1	37	c.4083G>A																																																																																					0.697	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	30	0	0	0	1	0	4	30					A	143623678	G	A	143623678	2	1	161	1	0	0	0	0	0	0	0	1	1298	991	35	2		2	BAI1	8	143623678	Silent	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08	27024032	143623678	2740344	20	2778											
MMRN2	79812	broad.mit.edu	37	10	88704974	88704974	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr10:88704974G>T	ENST00000372027.5	-	4	773	c.452C>A	c.(451-453)cCt>cAt	p.P151H	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	151					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCATCCTGAGGTTCCTGGTG	0.562																																						uc001kea.3																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(451-453)cCt>cAt		Homo sapiens multimerin 2 (MMRN2), mRNA.							68	56	60					10																	88704974		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88704974G>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.452C>A	10.37:g.88704974G>T	ENSP00000361097:p.Pro151His		Somatic				MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.P108H	p.P151H	NM_024756	NP_079032	WXS	Illumina GAIIx	Phase_I	Q9H8L6	MMRN2_HUMAN			3	579	-			151					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.452C>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143185	0.21205	.	.	ENSG00000173269	ENST00000372027	T	0.15603	2.41	4.68	0.757	0.18427	.	1.249090	0.05393	N	0.539306	T	0.15478	0.0373	L	0.54323	1.7	0.09310	N	1	B;B	0.31581	0.063;0.329	B;B	0.25140	0.014;0.058	T	0.30387	-0.9980	10	0.54805	T	0.06	0.0062	3.4527	0.07505	0.283:0.0:0.5386:0.1784	.	90;151	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	H	151	ENSP00000361097:P151H	ENSP00000361097:P151H	P	-	2	0	MMRN2	88694954	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.420000	0.21263	0.141000	0.18875	0.655000	0.94253	CCT		0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		4	34	0	0	0	1	0	4	34					T	88704974	G	T	88704974	3	4	161	1	0	0	0	0	1	0	0	0	9671	1000	35	4	2413	4	MMRN2	10	88704974	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		88704974	46829773	21	2779											
OR56A1	120796	broad.mit.edu	37	11	6048624	6048624	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6048624C>T	ENST00000316650.5	-	1	347	c.311G>A	c.(310-312)tGc>tAc	p.C104Y		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGAGGAAGCAGGCAGGGAA	0.552																																						uc010qzw.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(310-312)tGc>tAc		Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.							109	95	100					11																	6048624		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048624C>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.311G>A	11.37:g.6048624C>T	ENSP00000321246:p.Cys104Tyr		Somatic					p.C104Y	NM_001001917	NP_001001917	WXS	Illumina GAIIx	Phase_I	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	348	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	104					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.311G>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453029	0.26161	.	.	ENSG00000180934	ENST00000316650	T	0.00547	6.66	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000265	T	0.03095	0.0091	H	0.98333	4.205	0.48696	D	0.999698	B	0.33528	0.416	P	0.44647	0.456	T	0.00067	-1.2142	10	0.87932	D	0	.	15.528	0.75928	0.0:1.0:0.0:0.0	.	104	Q8NGH5	O56A1_HUMAN	Y	104	ENSP00000321246:C104Y	ENSP00000321246:C104Y	C	-	2	0	OR56A1	6005200	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.529000	0.67135	2.303000	0.77524	0.655000	0.94253	TGC		0.552	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		4	53	0	0	0	1	0	4	53					T	6048624	C	T	6048624	3	4	161	1	0	0	0	0	1	0	0	0	11133	710	25	2	649	2	OR56A1	11	6048624	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		6048624	128957892	22	2780											
OR2D3	120775	broad.mit.edu	37	11	6942667	6942667	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6942667C>T	ENST00000317834.3	+	1	463	c.435C>T	c.(433-435)ccC>ccT	p.P145P		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	145						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)		TCTGCAAGCCCCTGTACTACT	0.512																																						uc010rav.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(433-435)ccC>ccT		Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.							149	133	138					11																	6942667		2201	4296	6497	SO:0001819	synonymous_variant	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942667C>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.435C>T	11.37:g.6942667C>T			Somatic					p.P145P	NM_001004684	NP_001004684	WXS	Illumina GAIIx	Phase_I	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	0	435	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	145					B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	c.435C>T	CCDS31417.1																																																																																				0.512	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		17	80	0	0	0	1	0	17	80					T	6942667	C	T	6942667	2	4	161	1	0	0	0	0	0	0	0	1	10995	610	22	2		2	OR2D3	11	6942667	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	894043	6942667	128063849	23	2781											
DYNC2H1	79659	broad.mit.edu	37	11	102999693	102999693	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:102999693A>G	ENST00000375735.2	+	13	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.M638V|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M638V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	638	Stem. {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)		TCAGAGGCCAATGATGTTACA	0.259																																						uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(1912-1914)Atg>Gtg		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							57	58	58					11																	102999693		1802	4053	5855	SO:0001583	missense	79659				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102999693A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1912A>G	11.37:g.102999693A>G	ENSP00000364887:p.Met638Val		Somatic				DYNC2H1_uc009yxe.1_Missense_Mutation_p.M638V|DYNC2H1_uc001pho.2_Missense_Mutation_p.M638V	p.M638V	NM_001080463	NP_001073932	WXS	Illumina GAIIx	Phase_I	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	12	2056	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	638			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.1912A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096315	0.76870	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.54675	0.56;0.56;0.56	5.17	5.17	0.71159	Dynein heavy chain, domain-1 (1);	0.351400	0.24020	U	0.042287	T	0.72622	0.3483	M	0.83953	2.67	0.51012	D	0.999901	D;P;D	0.58268	0.982;0.925;0.964	D;P;P	0.68943	0.961;0.803;0.841	T	0.74368	-0.3688	10	0.41790	T	0.15	.	13.878	0.63665	1.0:0.0:0.0:0.0	.	638;638;638	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	V	638	ENSP00000364887:M638V;ENSP00000334021:M638V;ENSP00000381167:M638V	ENSP00000334021:M638V	M	+	1	0	DYNC2H1	102504903	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.838000	0.92115	2.087000	0.62958	0.533000	0.62120	ATG		0.259	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	35	0	0	0	1	0	3	35					G	102999693	A	G	102999693	3	3	161	1	0	0	0	0	1	0	0	0	4846	101	4	3	1962	3	DYNC2H1	11	102999693	Missense_Mutation	SNP	A	TCGA-EL-A3CR-01A-12D-A202-08	96057026	102999693	32006823	24	2782											
SLC38A4	55089	broad.mit.edu	37	12	47172402	47172402	+	Missense_Mutation	SNP	C	C	T	rs189669525	byFrequency	TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:47172402C>T	ENST00000447411.1	-	10	1081	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC38A4_ENST00000266579.4_Missense_Mutation_p.R292H	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	292					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.R292H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGCAGGATTGCGGTGGGTGTA	0.458																																						uc001rpi.2																			1	Substitution - Missense(1)	p.R292H(2)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(874-876)cGc>cAc		Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.							116	104	108					12																	47172402		2203	4299	6502	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47172402C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.875G>A	12.37:g.47172402C>T	ENSP00000389843:p.Arg292His		Somatic				SLC38A4_uc001rpj.2_Missense_Mutation_p.R292H	p.R292H	NM_018018	NP_060488	WXS	Illumina GAIIx	Phase_I	Q969I6	S38A4_HUMAN			10	1274	-	Lung SC(27;0.192)|Renal(347;0.236)		292					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.875G>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649611	0.29336	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04119	3.7;3.7	4.91	-1.52	0.08637	.	0.991659	0.08198	N	0.982792	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.32370	T	0.25	0.0169	10.3171	0.43743	0.0:0.4305:0.0:0.5695	.	292	Q969I6	S38A4_HUMAN	H	292	ENSP00000389843:R292H;ENSP00000266579:R292H	ENSP00000266579:R292H	R	-	2	0	SLC38A4	45458669	0.000000	0.05858	0.002000	0.10522	0.942000	0.58702	-0.503000	0.06383	-0.352000	0.08237	0.484000	0.47621	CGC		0.458	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			7	72	0	0	0	1	0	7	72					T	47172402	C	T	47172402	3	4	161	1	0	0	0	0	1	0	0	0	14606	768	27	1	796	1	SLC38A4	12	47172402	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		47172402	86679493	25	2783											
CPSF6	11052	broad.mit.edu	37	12	69651614	69651614	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:69651614C>T	ENST00000435070.2	+	5	733	c.623C>T	c.(622-624)cCa>cTa	p.P208L	CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P208L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	208	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCCGTTTTCCAGGGGCTGTT	0.542																																						uc001suu.4																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(622-624)cCa>cTa		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							96	99	98					12																	69651614		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69651614C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.623C>T	12.37:g.69651614C>T	ENSP00000391774:p.Pro208Leu		Somatic				CPSF6_uc001sut.4_Missense_Mutation_p.P208L|CPSF6_uc010stk.2_5'Flank	p.P208L	NM_007007	NP_008938	WXS	Illumina GAIIx	Phase_I	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		4	733	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		208			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.623C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387625	0.61956	.	.	ENSG00000111605	ENST00000435070;ENST00000266679	.	.	.	5.51	5.51	0.81932	.	0.046292	0.85682	D	0.000000	T	0.77350	0.4117	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.74565	-0.3623	8	.	.	.	-5.7434	19.8051	0.96529	0.0:1.0:0.0:0.0	.	208;208	Q16630-2;Q16630	.;CPSF6_HUMAN	L	208	.	.	P	+	2	0	CPSF6	67937881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.578000	0.82498	2.763000	0.94921	0.563000	0.77884	CCA		0.542	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		14	101	0	0	0	1	0	14	101					T	69651614	C	T	69651614	3	4	161	1	0	0	0	0	1	0	0	0	3829	594	21	2	641	2	CPSF6	12	69651614	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	22479212	69651614	64200281	26	2784											
MTMR15	22909	broad.mit.edu	37	15	31202968	31202968	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:31202968C>T	ENST00000362065.4	+	4	1818	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V	FAN1_ENST00000565466.1_Silent_p.V509V|FAN1_ENST00000561594.1_Silent_p.V509V|FAN1_ENST00000561607.1_Silent_p.V509V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	509					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGCGTTCAGTCTGCACTTGGG	0.418								Direct reversal of damage																														uc001zff.3																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1525-1527)gtC>gtT	Direct reversal of damage	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.							91	87	89					15																	31202968		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202968C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1527C>T	15.37:g.31202968C>T			Somatic				FAN1_uc001zfc.3_Silent_p.V509V|FAN1_uc010azw.2_Silent_p.V509V|FAN1_uc001zfd.3_Silent_p.V509V|FAN1_uc001zfe.3_Silent_p.V114V	p.V509V	NM_014967	NP_055782	WXS	Illumina GAIIx	Phase_I	Q9Y2M0	FAN1_HUMAN			3	1818	+			509					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1527C>T	CCDS32186.1																																																																																				0.418	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		9	32	0	0	0	1	0	9	32					T	31202968	C	T	31202968	2	4	161	1	0	0	0	0	0	0	0	1	9943	900	32	2		2	MTMR15	15	31202968	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		31202968	71328424	27	2785											
CHRM5	1133	broad.mit.edu	37	15	34355791	34355791	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:34355791C>T	ENST00000383263.5	+	3	1543	c.873C>T	c.(871-873)agC>agT	p.S291S	CHRM5_ENST00000557872.1_Silent_p.S291S	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	291					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTGGCCCAAGCGCCAATTGGG	0.632																																						uc001zhk.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(871-873)agC>agT		Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						55	57	56					15																	34355791		2201	4298	6499	SO:0001819	synonymous_variant	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355791C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.873C>T	15.37:g.34355791C>T			Somatic				CHRM5_uc001zhl.1_Silent_p.S291S|CHRM5_uc021sir.1_Silent_p.S291S	p.S291S	NM_012125	NP_036257	WXS	Illumina GAIIx	Phase_I	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	2	1543	+		all_lung(180;1.76e-08)	291					Q96RG7	Silent	SNP	ENST00000383263.5	37	c.873C>T	CCDS10031.1																																																																																				0.632	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			6	65	0	0	0	1	0	6	65					T	34355791	C	T	34355791	2	4	161	1	0	0	0	0	0	0	0	1	3380	767	27	1		1	CHRM5	15	34355791	Silent	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	3152823	34355791	68175601	28	2786											
DNAJC17	55192	broad.mit.edu	37	15	41071505	41071505	+	Missense_Mutation	SNP	C	C	A	rs376973487		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:41071505C>A	ENST00000220496.4	-	4	241	c.211G>T	c.(211-213)Gca>Tca	p.A71S		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	71	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TTGTCATATGCAGCCTGGCAG	0.542																																						uc001zms.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6						c.(211-213)Gca>Tca		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.							151	124	133					15																	41071505		2203	4300	6503	SO:0001583	missense	55192				protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding	g.chr15:41071505C>A	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.211G>T	15.37:g.41071505C>A	ENSP00000220496:p.Ala71Ser		Somatic				DNAJC17_uc010bbz.2_Non-coding_Transcript|DNAJC17_uc010bca.2_Non-coding_Transcript|DNAJC17_uc010bcb.2_Non-coding_Transcript	p.A71S	NM_018163	NP_060633	WXS	Illumina GAIIx	Phase_I	Q9NVM6	DJC17_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	3	243	-		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	71			J.			Missense_Mutation	SNP	ENST00000220496.4	37	c.211G>T	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525185	0.85600	.	.	ENSG00000104129	ENST00000220496	T	0.29655	1.56	5.52	5.52	0.82312	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.48642	1.525	0.80722	D	1	P	0.35894	0.526	P	0.53185	0.72	T	0.26985	-1.0087	10	0.42905	T	0.14	.	17.2117	0.86932	0.0:1.0:0.0:0.0	.	71	Q9NVM6	DJC17_HUMAN	S	71	ENSP00000220496:A71S	ENSP00000220496:A71S	A	-	1	0	DNAJC17	38858797	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	5.805000	0.69143	2.603000	0.88011	0.650000	0.86243	GCA		0.542	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		7	60	0	0	0	1	0	7	60					A	41071505	C	A	41071505	3	1	161	1	0	0	0	0	1	0	0	0	4636	710	25	4	735	4	DNAJC17	15	41071505	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	6715714	41071505	61459887	29	2787											
PCSK6	5046	broad.mit.edu	37	15	101972253	101972253	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:101972253C>T	ENST00000348070.1	-	4	451	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	PCSK6_ENST00000358417.3_Missense_Mutation_p.R151Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000331826.7_5'Flank|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	152					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.R151Q(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGTCACTTCGCACCTGTCT	0.483																																						uc002bxa.2																			2	Substitution - Missense(2)	p.R151Q(3)	large_intestine(2)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(451-453)cGa>cAa		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							97	114	109					15																	101972253		1943	4128	6071	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101972253C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.452G>A	15.37:g.101972253C>T	ENSP00000305056:p.Arg151Gln		Somatic				PCSK6_uc010bpd.3_Missense_Mutation_p.R22Q|PCSK6_uc002bwy.3_Missense_Mutation_p.R151Q|PCSK6_uc010bpe.3_Missense_Mutation_p.R148Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R151Q|PCSK6_uc002bxc.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxd.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxe.3_Missense_Mutation_p.R151Q|PCSK6_uc002bxg.1_Missense_Mutation_p.R151Q	p.R151Q	NM_138320	NP_612193	WXS	Illumina GAIIx	Phase_I	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	766	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		152			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.452G>A		.	.	.	.	.	.	.	.	.	.	C	14.18	2.457088	0.43634	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.64	3.71	0.42584	.	0.391386	0.23508	N	0.047431	T	0.30759	0.0775	L	0.37561	1.115	0.26164	N	0.979957	B;B;B;B;B;B;B;B;B	0.26363	0.014;0.008;0.013;0.147;0.051;0.091;0.043;0.068;0.024	B;B;B;B;B;B;B;B;B	0.18263	0.002;0.002;0.011;0.021;0.004;0.009;0.008;0.013;0.004	T	0.16808	-1.0390	10	0.38643	T	0.18	-11.3901	10.7966	0.46464	0.0:0.7979:0.1303:0.0719	.	152;57;151;152;151;151;152;152;151	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	151;151;56;151;151	ENSP00000305056:R151Q;ENSP00000351193:R151Q;ENSP00000344410:R151Q;ENSP00000381243:R151Q	ENSP00000344410:R151Q	R	-	2	0	PCSK6	99789776	0.968000	0.33430	0.828000	0.32881	0.962000	0.63368	2.360000	0.44151	1.355000	0.45865	0.555000	0.69702	CGA		0.483	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		3	14	0	0	0	1	0	3	14					T	101972253	C	T	101972253	3	4	161	1	0	0	0	0	1	0	0	0	11604	884	31	1	3013	1	PCSK6	15	101972253	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	60900748	101972253	559139	30	2788											
KRTAP4-12	83755	broad.mit.edu	37	17	39280056	39280056	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr17:39280056G>C	ENST00000394014.1	-	1	363	c.319C>G	c.(319-321)Cag>Gag	p.Q107E		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	107	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTGGTCTGACAGCAGCTG	0.677																																						uc002hwa.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(319-321)Cag>Gag		Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.							41	49	46					17																	39280056		2190	4282	6472	SO:0001583	missense	83755					keratin filament		g.chr17:39280056G>C	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.319C>G	17.37:g.39280056G>C	ENSP00000377582:p.Gln107Glu		Somatic					p.Q107E	NM_031854	NP_114060	WXS	Illumina GAIIx	Phase_I	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	364	-		Breast(137;0.000496)	107		Missing (in allele KAP4.12-v1).	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.319C>G	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	2.648	-0.282677	0.05642	.	.	ENSG00000213416	ENST00000394014	T	0.00583	6.41	3.97	-6.51	0.01878	.	.	.	.	.	T	0.00440	0.0014	L	0.56280	1.765	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.51395	-0.8711	9	0.02654	T	1	.	2.4906	0.04609	0.0998:0.3039:0.1585:0.4379	.	107	Q9BQ66	KR412_HUMAN	E	107	ENSP00000377582:Q107E	ENSP00000377582:Q107E	Q	-	1	0	KRTAP4-12	36533582	0.000000	0.05858	0.029000	0.17559	0.409000	0.31022	-0.019000	0.12546	-0.452000	0.07087	0.458000	0.33432	CAG		0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			9	71	0	0	0	1	0	9	71					C	39280056	G	C	39280056	3	2	161	1	0	0	0	0	1	0	0	0	8550	1299	45	4	290	4	KRTAP4-12	17	39280056	Missense_Mutation	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		39280056	41915154	31	2789											
CIDEA	1149	broad.mit.edu	37	18	12274153	12274153	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr18:12274153T>A	ENST00000320477.9	+	4	457	c.392T>A	c.(391-393)tTc>tAc	p.F131Y	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	131					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGAGTCACCTTCGACTTGTAC	0.597																																						uc002kqu.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(493-495)tTc>tAc		Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 2, non-coding RNA.							153	120	131					18																	12274153		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274153T>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.392T>A	18.37:g.12274153T>A	ENSP00000320209:p.Phe131Tyr		Somatic				CIDEA_uc002kqt.4_Missense_Mutation_p.F131Y|CIDEA_uc010dlc.3_Non-coding_Transcript	p.F165Y			WXS	Illumina GAIIx	Phase_I	O60543	CIDEA_HUMAN			3	950	+			131					B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.494T>A	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725212	0.68959	.	.	ENSG00000176194	ENST00000320477	D	0.83163	-1.69	5.31	5.31	0.75309	.	0.060018	0.64402	D	0.000003	D	0.90686	0.7078	M	0.86268	2.805	0.58432	D	0.999992	D;D	0.71674	0.998;0.976	P;P	0.61328	0.887;0.686	D	0.92218	0.5782	10	0.72032	D	0.01	-26.774	14.936	0.70954	0.0:0.0:0.0:1.0	.	165;131	Q8N5P9;O60543	.;CIDEA_HUMAN	Y	131	ENSP00000320209:F131Y	ENSP00000320209:F131Y	F	+	2	0	CIDEA	12264153	1.000000	0.71417	0.994000	0.49952	0.025000	0.11179	7.028000	0.76470	2.022000	0.59522	0.533000	0.62120	TTC		0.597	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		11	65	0	0	0	1	0	11	65					A	12274153	T	A	12274153	3	1	161	1	0	0	0	0	1	0	0	0	3425	1783	62	5	550	5	CIDEA	18	12274153	Missense_Mutation	SNP	T	TCGA-EL-A3CR-01A-12D-A202-08		12274153	65803095	32	2790											
SIX5	147912	broad.mit.edu	37	19	46270388	46270388	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:46270388C>G	ENST00000317578.6	-	2	1210	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	277					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E277Q(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GACTCGTCCTCAGTCGTGGGA	0.677																																						uc002pdb.3																			1	Substitution - Missense(1)	p.E277Q(2)	lung(1)	endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(829-831)Gag>Cag		Homo sapiens SIX homeobox 5 (SIX5), mRNA.							17	19	18					19																	46270388		2189	4264	6453	SO:0001583	missense	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46270388C>G	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.829G>C	19.37:g.46270388C>G	ENSP00000316842:p.Glu277Gln		Somatic					p.E277Q	NM_175875	NP_787071	WXS	Illumina GAIIx	Phase_I	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	1	1224	-		Ovarian(192;0.0308)|all_neural(266;0.112)	277						Missense_Mutation	SNP	ENST00000317578.6	37	c.829G>C	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.823253	0.90873	.	.	ENSG00000177045	ENST00000317578	D	0.91124	-2.79	4.83	4.83	0.62350	.	0.797746	0.11174	N	0.591627	D	0.92795	0.7709	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91123	0.4931	10	0.56958	D	0.05	-16.4711	15.3923	0.74755	0.0:1.0:0.0:0.0	.	277	Q8N196	SIX5_HUMAN	Q	277	ENSP00000316842:E277Q	ENSP00000316842:E277Q	E	-	1	0	SIX5	50962228	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	7.286000	0.78671	2.211000	0.71520	0.561000	0.74099	GAG		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		5	8	0	0	0	1	0	5	8					G	46270388	C	G	46270388	3	3	161	1	0	0	0	0	1	0	0	0	14350	835	29	4	1398	4	SIX5	19	46270388	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08		46270388	12858595	33	2791											
HAS1	3036	broad.mit.edu	37	19	52217155	52217155	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:52217155C>T	ENST00000222115.1	-	5	1296	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	HAS1_ENST00000601714.1_Missense_Mutation_p.R428H|HAS1_ENST00000540069.2_Missense_Mutation_p.R420H|HAS1_ENST00000594621.1_3'UTR	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	421					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTAGAACAGACGCAGCACAGT	0.701																																					NSCLC(132;636 2450 45807 47979)	uc002pxn.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1282-1284)cGt>cAt		Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.							37	35	36					19																	52217155		2197	4299	6496	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217155C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1262G>A	19.37:g.52217155C>T	ENSP00000222115:p.Arg421His		Somatic				HAS1_uc010epc.1_Missense_Mutation_p.R21H|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.R421H|HAS1_uc002pxp.1_Missense_Mutation_p.R420H	p.R428H	NM_001523	NP_001514	WXS	Illumina GAIIx	Phase_I	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	1296	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	421					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1283G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	8.231	0.804615	0.16467	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.59502	0.26;0.26	3.19	3.19	0.36642	.	0.233762	0.36002	U	0.002847	T	0.41834	0.1176	L	0.29908	0.895	0.35158	D	0.770415	B;B;B	0.27656	0.147;0.184;0.184	B;B;B	0.24269	0.052;0.023;0.023	T	0.50625	-0.8806	10	0.22706	T	0.39	-22.0425	12.2755	0.54733	0.0:1.0:0.0:0.0	.	420;421;420	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	420;421	ENSP00000445021:R420H;ENSP00000222115:R421H	ENSP00000222115:R421H	R	-	2	0	HAS1	56908967	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	1.662000	0.37418	1.812000	0.52913	0.165000	0.16767	CGT		0.701	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		13	15	0	0	0	1	0	13	15					T	52217155	C	T	52217155	3	4	161	1	0	0	0	0	1	0	0	0	6961	536	19	1	478	1	HAS1	19	52217155	Missense_Mutation	SNP	C	TCGA-EL-A3CR-01A-12D-A202-08	5946767	52217155	6911828	34	2792											
C20orf160	140706	broad.mit.edu	37	20	30602787	30602787	+	Silent	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr20:30602787G>A	ENST00000300415.8	+	2	124	c.111G>A	c.(109-111)cgG>cgA	p.R37R	CCM2L_ENST00000262659.8_Silent_p.R37R			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	37																	TGAGCCGCCGGCCCCTGCACT	0.632																																						uc002wxf.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						c.(109-111)cgG>cgA		Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.							74	73	73					20																	30602787		2203	4300	6503	SO:0001819	synonymous_variant	140706							g.chr20:30602787G>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.111G>A	20.37:g.30602787G>A			Somatic					p.R37R	NM_080625	NP_542192	WXS	Illumina GAIIx	Phase_I	Q9NUG4	CT160_HUMAN			1	124	+			37					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.111G>A																																																																																					0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		5	80	0	0	0	1	0	5	80					A	30602787	G	A	30602787	2	1	161	1	0	0	0	0	0	0	0	1	2093	1190	42	2		2	C20orf160	20	30602787	Silent	SNP	G	TCGA-EL-A3CR-01A-12D-A202-08		30602787	32422733	35	2793											
NUP133	55746	broad.mit.edu	37	1	229623237	229623237	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:229623237C>T	ENST00000261396.3	-	10	1409	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	NUP133_ENST00000537506.1_Missense_Mutation_p.E424K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	440					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAATTTTCTCCTGGGGAAGA	0.413																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1318-1320)Gag>Aag		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.							102	104	103					1																	229623237		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	g.chr1:229623237C>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1318G>A	1.37:g.229623237C>T	ENSP00000261396:p.Glu440Lys		Somatic					p.E440K	NM_018230	NP_060700	WXS	Illumina GAIIx	Phase_I	Q8WUM0	NU133_HUMAN			9	1410	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	440					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1318G>A	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239214	0.95240	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.61859	0.07;0.07;0.07	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.73962	2.25	0.80722	D	1	D	0.53312	0.959	P	0.49085	0.6	T	0.70630	-0.4819	10	0.45353	T	0.12	-12.7626	18.8123	0.92063	0.0:1.0:0.0:0.0	.	440	Q8WUM0	NU133_HUMAN	K	440;440;440;424	ENSP00000261396:E440K;ENSP00000355640:E440K;ENSP00000443496:E424K	ENSP00000261396:E440K	E	-	1	0	NUP133	227689860	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	6.724000	0.74747	2.526000	0.85167	0.585000	0.79938	GAG		0.413	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		36	50	0	0	0	1	0	36	50					T	229623237	C	T	229623237	3	4	162	1	0	0	0	0	1	0	0	0	10754	864	30	2	2220	2	NUP133	1	229623237	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		229623237	19627384	1	2794											
IL18RAP	8807	broad.mit.edu	37	2	103059671	103059671	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:103059671A>C	ENST00000264260.2	+	8	1397	c.808A>C	c.(808-810)Act>Cct	p.T270P	AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Missense_Mutation_p.T128P	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	270	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAGCCTTTAACTATTAGCTG	0.438																																						uc002tbx.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(808-810)Act>Cct		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							79	80	80					2																	103059671		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103059671A>C	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.808A>C	2.37:g.103059671A>C	ENSP00000264260:p.Thr270Pro		Somatic				IL18RAP_uc010fiz.3_Missense_Mutation_p.T128P	p.T270P	NM_003853	NP_003844	WXS	Illumina GAIIx	Phase_I	O95256	I18RA_HUMAN			7	1292	+			270			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.808A>C	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728571	0.48833	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.16073	2.37;2.37	5.47	1.83	0.25207	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.640958	0.15156	N	0.277452	T	0.27063	0.0663	M	0.64997	1.995	0.09310	N	1	D	0.55800	0.973	P	0.55303	0.773	T	0.06499	-1.0823	10	0.38643	T	0.18	.	7.9363	0.29931	0.6877:0.0:0.3123:0.0	.	270	O95256	I18RA_HUMAN	P	270;128	ENSP00000264260:T270P;ENSP00000387201:T128P	ENSP00000264260:T270P	T	+	1	0	IL18RAP	102426103	0.852000	0.29690	0.017000	0.16124	0.703000	0.40648	2.534000	0.45676	0.375000	0.24679	0.528000	0.53228	ACT		0.438	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		16	48	0	0	0	1	0	16	48					C	103059671	A	C	103059671	3	2	162	1	0	0	0	0	1	0	0	0	7648	43	2	5	830	5	IL18RAP	2	103059671	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		103059671	140139702	2	2795											
TTN	7273	broad.mit.edu	37	2	179612467	179612467	+	Intron	SNP	A	A	G			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:179612467A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I4887T|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTTAGGAATATTTTGAGA	0.378																																						uc002unb.2																			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.(14659-14661)aTt>aCt		Homo sapiens titin (TTN), transcript variant novex-3, mRNA.							55	56	55					2																	179612467		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612467A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5383T>C	2.37:g.179612467A>G			Somatic				TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript	p.I4887T	NM_133379	NP_596870	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		45	14885	-			1010			Ig-like 29.		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.14660T>C		.	.	.	.	.	.	.	.	.	.	A	9.232	1.036051	0.19590	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.61	1.74	0.24563	.	.	.	.	.	T	0.30916	0.0780	N	0.08118	0	0.19775	N	0.999952	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.10902	T	0.67	.	7.6104	0.28126	0.7199:0.0:0.2801:0.0	.	4887	Q8WZ42-6	.	T	4887;201	ENSP00000354117:I4887T	ENSP00000304714:I201T	I	-	2	0	TTN	179320712	0.523000	0.26274	0.262000	0.24481	0.133000	0.20885	1.848000	0.39309	0.434000	0.26340	0.528000	0.53228	ATT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	33	0	0	0	1	0	10	33					G	179612467	A	G	179612467	1	3	162	0	1	0	0	0	0	0	0	0	16732	101	4	3		3	TTN	2	179612467	Intron	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08	76552796	179612467	63586906	3	2796											
XRCC5	7520	broad.mit.edu	37	2	216977742	216977742	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:216977742G>A	ENST00000392133.3	+	4	486	c.25G>A	c.(25-27)Gct>Act	p.A9T	XRCC5_ENST00000392132.2_Missense_Mutation_p.A9T			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	9					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCCAGGCAGCTGTTGTGCT	0.398								Non-homologous end-joining																														uc002vfy.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(25-27)Gct>Act	Non-homologous end-joining	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.							157	151	153					2																	216977742		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216977742G>A	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.25G>A	2.37:g.216977742G>A	ENSP00000375978:p.Ala9Thr		Somatic					p.A9T	NM_021141	NP_066964	WXS	Illumina GAIIx	Phase_I	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	1	165	+		Renal(323;0.0328)	9					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.25G>A	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688140	0.68271	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.48836	0.8;0.8	5.12	4.24	0.50183	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.063135	0.64402	D	0.000007	T	0.67869	0.2939	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.72354	-0.4319	10	0.72032	D	0.01	.	12.7786	0.57464	0.0786:0.0:0.9214:0.0	.	9	P13010	XRCC5_HUMAN	T	9	ENSP00000375978:A9T;ENSP00000375977:A9T	ENSP00000375977:A9T	A	+	1	0	XRCC5	216685987	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	8.970000	0.93415	1.397000	0.46682	-0.136000	0.14681	GCT		0.398	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		34	60	0	0	0	1	0	34	60					A	216977742	G	A	216977742	3	1	162	1	0	0	0	0	1	0	0	0	17453	971	34	2	31	2	XRCC5	2	216977742	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08	37365275	216977742	26221631	4	2797											
PDE12	201626	broad.mit.edu	37	3	57543196	57543196	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:57543196G>A	ENST00000311180.8	+	1	1193	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	PDE12_ENST00000487257.1_Missense_Mutation_p.A364T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	364					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTTGGTACCCGCCCTAGAGGC	0.557																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1090-1092)Gcc>Acc		Homo sapiens phosphodiesterase 12 (PDE12), mRNA.							48	49	49					3																	57543196		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57543196G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1090G>A	3.37:g.57543196G>A	ENSP00000309142:p.Ala364Thr		Somatic				PDE12_uc003div.3_Missense_Mutation_p.A364T	p.A364T	NM_177966	NP_808881	WXS	Illumina GAIIx	Phase_I	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	0	1216	+			364					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1090G>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856907	0.71834	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.80480	-1.38;-1.38	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);	0.099552	0.64402	D	0.000001	D	0.83243	0.5212	L	0.51853	1.615	0.54753	D	0.999987	D;P	0.65815	0.995;0.939	P;B	0.57468	0.821;0.357	T	0.79907	-0.1605	10	0.22706	T	0.39	-17.992	14.7807	0.69764	0.0:0.144:0.856:0.0	.	364;364	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	T	364	ENSP00000420626:A364T;ENSP00000309142:A364T	ENSP00000309142:A364T	A	+	1	0	PDE12	57518236	1.000000	0.71417	0.447000	0.26932	0.655000	0.38815	6.233000	0.72320	2.545000	0.85829	0.655000	0.94253	GCC		0.557	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		3	43	0	0	0	1	0	3	43					A	57543196	G	A	57543196	3	1	162	1	0	0	0	0	1	0	0	0	11632	1087	38	1	1092	1	PDE12	3	57543196	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		57543196	140479234	5	2798											
GPR98	84059	broad.mit.edu	37	5	89923208	89923208	+	Missense_Mutation	SNP	C	C	T	rs200197273	byFrequency	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr5:89923208C>T	ENST00000405460.2	+	7	949	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	285	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R285C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCAGTAGTTCGTGGAAAGGA	0.398																																						uc003kju.3																			1	Substitution - Missense(1)	p.R285C(2)|p.V284V(1)	skin(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(853-855)Cgt>Tgt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							146	138	141					5																	89923208		1898	4124	6022	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:89923208C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.853C>T	5.37:g.89923208C>T	ENSP00000384582:p.Arg285Cys		Somatic				GPR98_uc003kjt.3_5'UTR	p.R285C	NM_032119	NP_115495	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	6	949	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	285					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.853C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371596	0.61624	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.43688	0.94	5.7	4.83	0.62350	.	0.047609	0.85682	N	0.000000	T	0.66376	0.2783	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72130	-0.4383	10	0.87932	D	0	.	14.6307	0.68653	0.0:0.9302:0.0:0.0698	.	285	Q8WXG9	GPR98_HUMAN	C	285	ENSP00000384582:R285C	ENSP00000296619:R285C	R	+	1	0	GPR98	89958964	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	4.297000	0.59061	1.425000	0.47237	0.585000	0.79938	CGT		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	96	0	0	0	1	0	5	96					T	89923208	C	T	89923208	3	4	162	1	0	0	0	0	1	0	0	0	6721	884	31	1	879	1	GPR98	5	89923208	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		89923208	90992052	6	2799											
GRIK2	2898	broad.mit.edu	37	6	102307352	102307352	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr6:102307352G>A	ENST00000421544.1	+	10	1998	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	GRIK2_ENST00000369138.1_Missense_Mutation_p.R503H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R503H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	503					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGAATGGTTCGTGAACTAATT	0.353																																						uc003pqp.4																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1507-1509)cGt>cAt		Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						96	91	92					6																	102307352		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102307352G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1508G>A	6.37:g.102307352G>A	ENSP00000397026:p.Arg503His		Somatic				GRIK2_uc003pqn.3_Missense_Mutation_p.R503H|GRIK2_uc010kcw.3_Missense_Mutation_p.R503H|GRIK2_uc003pqo.4_Missense_Mutation_p.R503H|GRIK2_uc021zdk.1_Missense_Mutation_p.R503H|GRIK2_uc021zdl.1_Non-coding_Transcript	p.R503H	NM_021956	NP_068775	WXS	Illumina GAIIx	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1801	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	503					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1508G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450323	0.84101	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000436862	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.21	5.21	0.72293	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.116130	0.51477	D	0.000086	D	0.82692	0.5092	M	0.87381	2.88	0.48571	D	0.999676	P;P;P	0.48350	0.901;0.909;0.901	B;P;B	0.48795	0.403;0.59;0.291	D	0.86292	0.1674	10	0.66056	D	0.02	.	18.7526	0.91821	0.0:0.0:1.0:0.0	.	503;503;503	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	503;503;503;503;503;503;454;465;102	ENSP00000397026:R503H;ENSP00000405596:R503H;ENSP00000358134:R503H;ENSP00000358133:R503H;ENSP00000313276:R503H;ENSP00000358130:R454H;ENSP00000407140:R102H	ENSP00000313276:R503H	R	+	2	0	GRIK2	102414045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.516000	0.60496	2.401000	0.81631	0.591000	0.81541	CGT		0.353	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	49	0	0	0	1	0	7	49					A	102307352	G	A	102307352	3	1	162	1	0	0	0	0	1	0	0	0	6774	1145	40	1	1546	1	GRIK2	6	102307352	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		102307352	68807715	7	2800											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	45	0	0	0	1	0	27	45					T	140453136	A	T	140453136	3	4	162	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		140453136	18685527	8	2801											
PKHD1L1	93035	broad.mit.edu	37	8	110410703	110410703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr8:110410703delT	ENST00000378402.5	+	12	1042	c.938delT	c.(937-939)attfs	p.I313fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	313	IPT/TIG 3.				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)			CCTTGTGATATTTTGAATGTC	0.368										HNSCC(38;0.096)																												uc003yne.3																			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.(937-939)attfs		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							92	79	83					8																	110410703		1827	4074	5901	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110410703delT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.938delT	8.37:g.110410703delT	ENSP00000367655:p.Ile313fs	HNSCC(38;0.096)	Somatic					p.I313fs	NM_177531	NP_803875	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		11	1042	+			313			IPT/TIG 3.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.938delT	CCDS47911.1																																																																																				0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	4						2	4	---	---	---	---	-	110410703	T	-	110410703	7	5	162	1	0	1	0	1	0	0	0	0	11972	1493	52	0	984	0	PKHD1L1	8	110410703	Frame_Shift_Del	DEL	T	TCGA-EL-A3CS-01A-21D-A19J-08		110410703	35953319	9	2802											
JMJD1C	221037	broad.mit.edu	37	10	64973686	64973686	+	Silent	SNP	G	G	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr10:64973686G>T	ENST00000399262.2	-	8	2459	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	JMJD1C_ENST00000402544.1_Silent_p.T528T|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Silent_p.T565T|JMJD1C_ENST00000399251.1_Silent_p.T528T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	747					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTTAAACAGGTTCTATGAG	0.438																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2239-2241)acC>acA		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							126	111	116					10																	64973686		1942	4154	6096	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973686G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2241C>A	10.37:g.64973686G>T			Somatic				JMJD1C_uc001jml.3_Silent_p.T528T|JMJD1C_uc001jmm.3_Silent_p.T459T|JMJD1C_uc010qiq.2_Silent_p.T565T|JMJD1C_uc009xpi.3_Silent_p.T565T|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Silent_p.T459T	p.T747T	NM_032776	NP_116165	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			7	2541	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		747					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.2241C>A	CCDS41532.1																																																																																				0.438	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		27	39	0	0	0	1	0	27	39					T	64973686	G	T	64973686	2	4	162	1	0	0	0	0	0	0	0	1	7950	987	35	4		4	JMJD1C	10	64973686	Silent	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		64973686	70561061	10	2803											
DNHD1	144132	broad.mit.edu	37	11	6588368	6588368	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:6588368A>C	ENST00000527990.2	+	34	11629	c.11629A>C	c.(11629-11631)Agc>Cgc	p.S3877R	DNHD1_ENST00000254579.6_Missense_Mutation_p.S3877R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3877					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTTCTGTATGAGCCCAGAGAA	0.537																																						uc001mdw.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(11629-11631)Agc>Cgc		Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.							90	92	91					11																	6588368		1978	4158	6136	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588368A>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11629A>C	11.37:g.6588368A>C	ENSP00000436180:p.Ser3877Arg		Somatic				DNHD1_uc001mea.4_Missense_Mutation_p.S146R|DNHD1_uc001meb.3_Missense_Mutation_p.S145R|DNHD1_uc001mec.3_Missense_Mutation_p.S145R|DNHD1_uc010rao.2_Missense_Mutation_p.S135R|DNHD1_uc009yfg.3_5'Flank	p.S3877R	NM_144666	NP_653267	WXS	Illumina GAIIx	Phase_I	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	12193	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3877					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11629A>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	8.163	0.789980	0.16258	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.59638	0.25;0.25	4.78	-0.423	0.12325	.	1.207470	0.05939	N	0.636565	T	0.41581	0.1165	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.38178	-0.9673	10	0.87932	D	0	1.4564	5.4695	0.16662	0.3034:0.4991:0.1975:0.0	.	2965;145;3877	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	R	3877;3877;145;145	ENSP00000254579:S3877R;ENSP00000436180:S3877R	ENSP00000254579:S3877R	S	+	1	0	DNHD1	6544944	0.001000	0.12720	0.115000	0.21578	0.429000	0.31625	0.227000	0.17795	0.010000	0.14839	0.459000	0.35465	AGC		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		8	79	0	0	0	1	0	8	79					C	6588368	A	C	6588368	3	2	162	1	0	0	0	0	1	0	0	0	4668	304	11	5	11772	5	DNHD1	11	6588368	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		6588368	128418148	11	2804											
MRPL16	54948	broad.mit.edu	37	11	59573896	59573896	+	Missense_Mutation	SNP	C	C	T	rs117253311	byFrequency	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:59573896C>T	ENST00000300151.4	-	4	893	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	227					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CAGTACTTTCCGTATGCCCAG	0.463													C|||	9	0.00179712	0	0	5008	,	,		18932	0.0079		0	False		,,,				2504	0.001					uc001noh.2																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(679-681)cGg>cAg		Homo sapiens mitochondrial ribosomal protein L16 (MRPL16), nuclear gene encoding mitochondrial protein, mRNA.							247	228	234					11																	59573896		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59573896C>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.680G>A	11.37:g.59573896C>T	ENSP00000300151:p.Arg227Gln		Somatic					p.R227Q	NM_017840	NP_060310	WXS	Illumina GAIIx	Phase_I	Q9NX20	RM16_HUMAN			3	894	-			227					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.680G>A	CCDS7976.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	27.2	4.809275	0.90707	.	.	ENSG00000166902	ENST00000300151	T	0.23348	1.91	6.07	6.07	0.98685	.	0.045846	0.85682	D	0.000000	T	0.33469	0.0864	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.64776	0.929	T	0.00802	-1.1560	10	0.27082	T	0.32	-22.0244	19.222	0.93801	0.0:1.0:0.0:0.0	.	227	Q9NX20	RM16_HUMAN	Q	227	ENSP00000300151:R227Q	ENSP00000300151:R227Q	R	-	2	0	MRPL16	59330472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.797000	0.85911	2.884000	0.98904	0.655000	0.94253	CGG		0.463	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		5	143	0	0	0	1	0	5	143					T	59573896	C	T	59573896	3	4	162	1	0	0	0	0	1	0	0	0	9781	652	23	1	79	1	MRPL16	11	59573896	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08	52985528	59573896	75432620	12	2805											
C12orf40	283461	broad.mit.edu	37	12	40076926	40076926	+	Silent	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr12:40076926C>T	ENST00000324616.5	+	8	1354	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	C12orf40_ENST00000405531.3_Silent_p.S400S|C12orf40_ENST00000398716.1_Silent_p.S323S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	400										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTACCCAAGCAGCTCTGAAA	0.294																																						uc001rmc.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1198-1200)agC>agT		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							45	44	45					12																	40076926		1792	3985	5777	SO:0001819	synonymous_variant	283461							g.chr12:40076926C>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1200C>T	12.37:g.40076926C>T			Somatic				C12orf40_uc009zjv.1_Non-coding_Transcript	p.S400S	NM_001031748	NP_001026918	WXS	Illumina GAIIx	Phase_I	Q86WS4	CL040_HUMAN			7	1367	+			400					B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	c.1200C>T	CCDS41770.1																																																																																				0.294	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		19	25	0	0	0	1	0	19	25					T	40076926	C	T	40076926	2	4	162	1	0	0	0	0	0	0	0	1	1686	709	25	2		2	C12orf40	12	40076926	Silent	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		40076926	93774969	13	2806											
ADAM21	8747	broad.mit.edu	37	14	70924423	70924423	+	Silent	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:70924423C>A	ENST00000603540.1	+	2	465	c.207C>A	c.(205-207)ggC>ggA	p.G69G	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.G69G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	69					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)		GGTTTGGGGGCCAGAAACACG	0.527																																						uc001xmd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(205-207)ggC>ggA		Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.							120	128	126					14																	70924423		2203	4300	6503	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924423C>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.207C>A	14.37:g.70924423C>A			Somatic				ADAM21_uc021rvq.1_Silent_p.G69G	p.G69G	NM_003813	NP_003804	WXS	Illumina GAIIx	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	465	+			69					O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.207C>A	CCDS9804.1																																																																																				0.527	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			17	152	0	0	0	1	0	17	152					A	70924423	C	A	70924423	2	1	162	1	0	0	0	0	0	0	0	1	243	726	26	4		4	ADAM21	14	70924423	Silent	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		70924423	36425117	14	2807											
WARS	7453	broad.mit.edu	37	14	100808866	100808866	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:100808866C>A	ENST00000355338.2	-	9	1600	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.G328C|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000344102.5_Missense_Mutation_p.G287C|WARS_ENST00000358655.4_Missense_Mutation_p.G287C|WARS_ENST00000556645.1_Missense_Mutation_p.G287C|WARS_ENST00000392882.2_Missense_Mutation_p.G328C	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	328					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTAGGATAGCCGATCCTGGGG	0.582																																						uc001yhh.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(982-984)Ggc>Tgc		Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	L-Tryptophan(DB00150)						80	77	78					14																	100808866		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100808866C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.982G>T	14.37:g.100808866C>A	ENSP00000347495:p.Gly328Cys		Somatic				WARS_uc001yhi.1_Missense_Mutation_p.G287C|WARS_uc001yhg.2_Missense_Mutation_p.G328C|WARS_uc001yhl.1_Missense_Mutation_p.G328C|WARS_uc001yhk.1_Missense_Mutation_p.G287C	p.G328C	NM_004184	NP_998811	WXS	Illumina GAIIx	Phase_I	P23381	SYWC_HUMAN			8	1363	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	328					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.982G>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401777	0.83120	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.85	4.96	0.65561	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.049408	0.85682	D	0.000000	D	0.87993	0.6318	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.89858	0.4014	10	0.87932	D	0	-2.1091	10.91	0.47103	0.0:0.8576:0.0:0.1424	.	328	P23381	SYWC_HUMAN	C	328;287;328;287;328;287	ENSP00000376620:G328C;ENSP00000351481:G287C;ENSP00000347495:G328C;ENSP00000339485:G287C;ENSP00000451460:G328C;ENSP00000451887:G287C	ENSP00000339485:G287C	G	-	1	0	WARS	99878619	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.081000	0.57627	1.477000	0.48234	0.655000	0.94253	GGC		0.582	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		3	24	0	0	0	1	0	3	24					A	100808866	C	A	100808866	3	1	162	1	0	0	0	0	1	0	0	0	17246	652	23	4	445	4	WARS	14	100808866	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08	29884443	100808866	6540674	15	2808											
HP	3240	broad.mit.edu	37	16	72090087	72090087	+	Silent	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:72090087G>A	ENST00000355906.5	+	2	91	c.33G>A	c.(31-33)ctG>ctA	p.L11L	HP_ENST00000357763.4_Silent_p.L11L|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.L11L|HP_ENST00000398131.2_Silent_p.L11L|HP_ENST00000569639.1_Silent_p.L11L|HP_ENST00000565574.1_Silent_p.L11L|HP_ENST00000562526.1_Silent_p.L11L	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	11					acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTGCCCTCCTGCTCTGGGGAC	0.547																																						uc002fbr.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(31-33)ctG>ctA		Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.							156	147	150					16																	72090087		2091	4227	6318	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72090087G>A		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.33G>A	16.37:g.72090087G>A			Somatic				TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.L11L|HP_uc021tld.1_Silent_p.L11L|HP_uc002fbt.4_Silent_p.L11L	p.L11L	NM_005143	NP_005134	WXS	Illumina GAIIx	Phase_I	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	1	77	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	11					B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.33G>A	CCDS45524.1																																																																																				0.547	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		24	37	0	0	0	1	0	24	37					A	72090087	G	A	72090087	2	1	162	1	0	0	0	0	0	0	0	1	7327	1306	46	2		2	HP	16	72090087	Silent	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		72090087	18264666	16	2809											
RPRD1A	55197	broad.mit.edu	37	18	33647274	33647274	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr18:33647274G>C	ENST00000399022.4	-	1	265	c.94C>G	c.(94-96)Cac>Gac	p.H32D	RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.H32D|RPRD1A_ENST00000319040.6_Missense_Mutation_p.H32D|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000588459.1_5'Flank	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	32	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTACGGTGGTGAATGAGCCAC	0.627																																						uc002kzg.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(94-96)Cac>Gac		Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.							93	65	75					18																	33647274		2203	4299	6502	SO:0001583	missense	55197							g.chr18:33647274G>C	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.94C>G	18.37:g.33647274G>C	ENSP00000381984:p.His32Asp		Somatic				RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.H32D	p.H32D	NM_018170	NP_060640	WXS	Illumina GAIIx	Phase_I	Q96P16	RPR1A_HUMAN			0	100	-			32			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.94C>G	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370597	0.61624	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000319040	T;T;T	0.39056	1.1;1.1;1.1	5.38	4.51	0.55191	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.83275	0.996;0.811	T	0.71417	-0.4599	10	0.66056	D	0.02	-8.3277	13.3123	0.60386	0.0:0.0:0.8407:0.1593	.	32;32	Q96P16-2;Q96P16	.;RPR1A_HUMAN	D	32	ENSP00000381984:H32D;ENSP00000349955:H32D;ENSP00000314602:H32D	ENSP00000314602:H32D	H	-	1	0	RPRD1A	31901272	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	9.392000	0.97252	1.268000	0.44264	-0.310000	0.09108	CAC		0.627	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		4	10	0	0	0	1	0	4	10					C	33647274	G	C	33647274	3	2	162	1	0	0	0	0	1	0	0	0	13615	1290	45	4	872	4	RPRD1A	18	33647274	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		33647274	44429974	17	2810											
SLC1A6	6511	broad.mit.edu	37	19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr19:15061128C>T	ENST00000221742.3	-	9	1581	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R447Q|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R461Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	525					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CTCCAGCTCCCGCTGAGACAA	0.612																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1573-1575)cGg>cAg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						60	55	57					19																	15061128		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061128C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1574G>A	19.37:g.15061128C>T	ENSP00000221742:p.Arg525Gln		Somatic				SLC1A6_uc010dzu.1_Missense_Mutation_p.R447Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R461Q	p.R525Q	NM_005071	NP_005062	WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			8	1581	-			525					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1574G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.043204	0.55003	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.70869	-0.52;0.53	5.57	-1.84	0.07809	.	0.424262	0.25222	N	0.032239	T	0.42988	0.1227	N	0.08118	0	0.58432	D	0.999999	B;B	0.28324	0.207;0.017	B;B	0.17433	0.018;0.002	T	0.10520	-1.0626	10	0.46703	T	0.11	-12.9414	9.5599	0.39362	0.0:0.294:0.0:0.706	.	461;525	E7EV13;P48664	.;EAA4_HUMAN	Q	461;525	ENSP00000409386:R461Q;ENSP00000221742:R525Q	ENSP00000221742:R525Q	R	-	2	0	SLC1A6	14922128	0.995000	0.38212	0.900000	0.35374	0.971000	0.66376	1.632000	0.37102	-0.135000	0.11495	0.544000	0.68410	CGG		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		20	42	0	0	0	1	0	20	42					T	15061128	C	T	15061128	3	4	162	1	0	0	0	0	1	0	0	0	14436	652	23	1	124	1	SLC1A6	19	15061128	Missense_Mutation	SNP	C	TCGA-EL-A3CS-01A-21D-A19J-08		15061128	44067855	18	2811											
HNF4A	3172	broad.mit.edu	37	20	43056987	43056987	+	Missense_Mutation	SNP	A	A	T	rs565460600		TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr20:43056987A>T	ENST00000316099.4	+	9	1231	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	HNF4A_ENST00000457232.1_Missense_Mutation_p.D359V|HNF4A_ENST00000415691.2_Missense_Mutation_p.D381V|HNF4A_ENST00000316673.4_Missense_Mutation_p.D359V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	381					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCGATGCACCCCAT	0.597																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1141-1143)gAt>gTt		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							112	85	94					20																	43056987		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43056987A>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1142A>T	20.37:g.43056987A>T	ENSP00000312987:p.Asp381Val		Somatic				HNF4A_uc002xlu.3_Missense_Mutation_p.D359V|HNF4A_uc002xlv.3_Missense_Mutation_p.D359V|HNF4A_uc010ggq.3_Missense_Mutation_p.D374V|HNF4A_uc002xlz.3_Missense_Mutation_p.D381V	p.D381V	NM_000457	NP_000448	WXS	Illumina GAIIx	Phase_I	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1231	+		Myeloproliferative disorder(115;0.0122)	381					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.1142A>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774676	0.90108	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.93	5.93	0.95920	.	3.241510	0.01138	N	0.006125	D	0.83792	0.5331	L	0.59436	1.845	0.80722	D	1	P;P;P;P;D	0.53151	0.923;0.825;0.566;0.825;0.958	P;P;P;P;P	0.58721	0.707;0.466;0.466;0.594;0.844	T	0.65590	-0.6131	10	0.87932	D	0	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	374;381;381;359;359	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	V	359;359;381;411;381	ENSP00000315180:D359V;ENSP00000396216:D359V;ENSP00000312987:D381V;ENSP00000412111:D381V	ENSP00000312987:D381V	D	+	2	0	HNF4A	42490401	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.310000	0.96267	2.270000	0.75569	0.460000	0.39030	GAT		0.597	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			10	47	0	0	0	1	0	10	47					T	43056987	A	T	43056987	3	4	162	1	0	0	0	0	1	0	0	0	7253	333	12	5	1354	5	HNF4A	20	43056987	Missense_Mutation	SNP	A	TCGA-EL-A3CS-01A-21D-A19J-08		43056987	19968533	19	2812											
FBLN1	2192	broad.mit.edu	37	22	45972977	45972977	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr22:45972977G>A	ENST00000327858.6	+	16	2056	c.1961G>A	c.(1960-1962)gGc>gAc	p.G654D	FBLN1_ENST00000348697.2_Missense_Mutation_p.G654D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	654					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACATGGACGGCATGACCGTG	0.582																																						uc003bgj.1																			0		p.D653E(1)|p.D653D(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1960-1962)gGc>gAc		Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.							157	121	134					22																	45972977		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45972977G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1961G>A	22.37:g.45972977G>A	ENSP00000331544:p.Gly654Asp		Somatic					p.G654D	NM_006486	NP_006477	WXS	Illumina GAIIx	Phase_I	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	2108	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	654					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1961G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945151	0.73672	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.83506	-1.64;-1.73	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	L	0.27053	0.805	0.54753	D	0.999984	P	0.40909	0.732	B	0.36134	0.218	T	0.69371	-0.5163	10	0.15066	T	0.55	.	14.5739	0.68232	0.0:0.0:1.0:0.0	.	654	P23142	FBLN1_HUMAN	D	654	ENSP00000262723:G654D;ENSP00000331544:G654D	ENSP00000331544:G654D	G	+	2	0	FBLN1	44351641	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.901000	0.87382	2.241000	0.73720	0.462000	0.41574	GGC		0.582	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		3	33	0	0	0	1	0	3	33					A	45972977	G	A	45972977	3	1	162	1	0	0	0	0	1	0	0	0	5698	1203	42	2	2503	2	FBLN1	22	45972977	Missense_Mutation	SNP	G	TCGA-EL-A3CS-01A-21D-A19J-08		45972977	5331589	20	2813											
TP73	7161	broad.mit.edu	37	1	3624151	3624151	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:3624151G>A	ENST00000378295.4	+	4	380	c.225G>A	c.(223-225)atG>atA	p.M75I	TP73_ENST00000378288.4_Missense_Mutation_p.M26I|TP73_ENST00000357733.3_Missense_Mutation_p.M75I|TP73_ENST00000603362.1_Missense_Mutation_p.M75I|TP73_ENST00000378280.1_Missense_Mutation_p.M26I|TP73_ENST00000354437.4_Missense_Mutation_p.M75I|TP73_ENST00000346387.4_Missense_Mutation_p.M75I|TP73_ENST00000604479.1_Missense_Mutation_p.M75I|TP73_ENST00000378290.4_Missense_Mutation_p.M4I|TP73_ENST00000378285.1_Missense_Mutation_p.M26I|TP73_ENST00000604074.1_Missense_Mutation_p.M75I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	75					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGGACCAGATGAGCAGCCGCG	0.667																																						uc001akp.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(223-225)atG>atA		Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.							73	83	79					1																	3624151		2203	4299	6502	SO:0001583	missense	7161				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624151G>A	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.225G>A	1.37:g.3624151G>A	ENSP00000367545:p.Met75Ile		Somatic				TP73_uc021ofb.1_Missense_Mutation_p.M75I|TP73_uc021ofc.1_Missense_Mutation_p.M75I|TP73_uc021ofd.1_Missense_Mutation_p.M75I|TP73_uc021ofe.1_Missense_Mutation_p.M75I|TP73_uc021off.1_Missense_Mutation_p.M75I|TP73_uc010nzj.2_Missense_Mutation_p.M26I|TP73_uc021ofg.1_Missense_Mutation_p.M26I|TP73_uc021ofh.1_Missense_Mutation_p.M26I|TP73_uc021ofi.1_Missense_Mutation_p.M26I|TP73_uc001akr.3_Missense_Mutation_p.M26I|TP73_uc009vlk.2_Missense_Mutation_p.M26I|TP73_uc001aks.3_Missense_Mutation_p.M26I|TP73_uc009vll.3_Missense_Mutation_p.M4I|TP73_uc010nzk.2_Missense_Mutation_p.M4I	p.M75I	NM_005427	NP_001191121	WXS	Illumina GAIIx	Phase_I	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	3	335	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	75					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.225G>A	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409541	0.01155	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99282	-5.46;-5.59;-5.35;-5.46;-5.47;-5.61;-5.68;-5.44	4.6	2.5	0.30297	.	0.405120	0.25361	N	0.031221	D	0.95178	0.8437	N	0.12182	0.205	0.26232	N	0.978991	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.003;0.0;0.001;0.001;0.0	B;B;B;B;B;B;B	0.11329	0.0;0.001;0.006;0.001;0.002;0.003;0.001	D	0.88031	0.2775	10	0.06365	T	0.9	-26.1386	8.9129	0.35563	0.0:0.2834:0.5949:0.1217	.	26;4;26;26;26;75;75	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	I	75;75;75;75;26;26;26;4	ENSP00000367545:M75I;ENSP00000346423:M75I;ENSP00000350366:M75I;ENSP00000340740:M75I;ENSP00000367537:M26I;ENSP00000367534:M26I;ENSP00000367529:M26I;ENSP00000367539:M4I	ENSP00000340740:M75I	M	+	3	0	TP73	3614011	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.012000	0.49575	0.906000	0.36621	0.491000	0.48974	ATG		0.667	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		21	198	0	0	0	1	0	21	198					A	3624151	G	A	3624151	3	1	163	1	0	0	0	0	1	0	0	0	16390	1290	45	2	278	2	TP73	1	3624151	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		3624151	245626470	1	2814											
WNT4	54361	broad.mit.edu	37	1	22448049	22448049	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:22448049C>T	ENST00000290167.6	-	3	377	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	WNT4_ENST00000542383.1_Missense_Mutation_p.V57M	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	112					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATGGCGTACACGAAGGCCGCC	0.657																																						uc001bfs.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(334-336)Gtg>Atg		Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.							44	44	44					1																	22448049		2203	4300	6503	SO:0001583	missense	54361				Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22448049C>T	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.334G>A	1.37:g.22448049C>T	ENSP00000290167:p.Val112Met		Somatic				WNT4_uc010odt.2_Missense_Mutation_p.V49M	p.V112M	NM_030761	NP_110388	WXS	Illumina GAIIx	Phase_I	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	2	438	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	112					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.334G>A	CCDS223.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152803	0.94645	.	.	ENSG00000162552	ENST00000290167;ENST00000542383	T;T	0.78707	-1.2;-1.2	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.88923	0.6569	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90869	0.4744	10	0.72032	D	0.01	.	16.4483	0.83959	0.0:1.0:0.0:0.0	.	112	P56705	WNT4_HUMAN	M	112;57	ENSP00000290167:V112M;ENSP00000441033:V57M	ENSP00000290167:V112M	V	-	1	0	WNT4	22320636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.853000	0.62911	2.303000	0.77524	0.555000	0.69702	GTG		0.657	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			4	52	0	0	0	1	0	4	52					T	22448049	C	T	22448049	3	4	163	1	0	0	0	0	1	0	0	0	17387	536	19	1	733	1	WNT4	1	22448049	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	18823898	22448049	226802572	2	2815											
RCC1	1104	broad.mit.edu	37	1	28863285	28863285	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:28863285G>A	ENST00000373833.6	+	12	1249	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RCC1_ENST00000398958.2_Missense_Mutation_p.E322K|RCC1_ENST00000373832.1_Missense_Mutation_p.E322K|RCC1_ENST00000373831.3_Missense_Mutation_p.E353K			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	322					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGGGCTGAGTATGGGCG	0.612																																						uc001bqf.2																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(1057-1059)Gag>Aag		Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 1, mRNA.							94	95	95					1																	28863285		2203	4300	6503	SO:0001583	missense	1104				G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding	g.chr1:28863285G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.964G>A	1.37:g.28863285G>A	ENSP00000362939:p.Glu322Lys		Somatic				RCC1_uc001bqb.2_Missense_Mutation_p.E322K|RCC1_uc001bqa.2_Missense_Mutation_p.E322K|RCC1_uc001bqc.2_Missense_Mutation_p.E322K|RCC1_uc001bqe.2_Missense_Mutation_p.E339K|RCC1_uc001bqg.2_Missense_Mutation_p.E322K	p.E353K	NM_001048194	NP_001041659	WXS	Illumina GAIIx	Phase_I	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	9	1142	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	322					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.1057G>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955818	0.92726	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.62723	1.935	0.80722	D	1	D;D;P	0.58268	0.982;0.971;0.939	P;P;P	0.51355	0.667;0.588;0.447	D	0.87595	0.2493	10	0.44086	T	0.13	-28.4638	18.6252	0.91334	0.0:0.0:1.0:0.0	.	353;339;322	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	K	322;322;322;353;339	ENSP00000381931:E322K;ENSP00000362939:E322K;ENSP00000362938:E322K;ENSP00000362937:E353K;ENSP00000413644:E339K	ENSP00000362937:E353K	E	+	1	0	RCC1	28735872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.824000	0.99380	2.741000	0.93983	0.655000	0.94253	GAG		0.612	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		42	161	0	0	0	1	0	42	161					A	28863285	G	A	28863285	3	1	163	1	0	0	0	0	1	0	0	0	13173	1291	45	2	1091	2	RCC1	1	28863285	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	6415236	28863285	220387336	3	2816											
ADAM30	11085	broad.mit.edu	37	1	120438365	120438365	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:120438365A>G	ENST00000369400.1	-	1	753	c.595T>C	c.(595-597)Tat>Cat	p.Y199H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	199					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGGTGTTTATAGGATCCAGGA	0.408																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(595-597)Tat>Cat		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							100	100	100					1																	120438365		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438365A>G	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.595T>C	1.37:g.120438365A>G	ENSP00000358407:p.Tyr199His		Somatic					p.Y199H	NM_021794	NP_068566	WXS	Illumina GAIIx	Phase_I	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	783	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	199					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.595T>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	A	9.856	1.195019	0.22037	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01159	5.25	4.57	0.941	0.19519	Metallopeptidase, catalytic domain (1);	0.000000	0.42548	D	0.000683	T	0.00300	0.0009	N	0.17082	0.46	0.09310	N	1	B	0.24920	0.114	B	0.25405	0.06	T	0.48115	-0.9063	10	0.87932	D	0	.	3.7881	0.08709	0.6169:0.1885:0.1947:0.0	.	199	Q9UKF2	ADA30_HUMAN	H	199	ENSP00000358407:Y199H	ENSP00000358407:Y199H	Y	-	1	0	ADAM30	120239888	0.081000	0.21417	0.000000	0.03702	0.019000	0.09904	1.834000	0.39171	-0.005000	0.14395	0.460000	0.39030	TAT		0.408	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		3	119	0	0	0	1	0	3	119					G	120438365	A	G	120438365	3	3	163	1	0	0	0	0	1	0	0	0	248	420	15	3	1781	3	ADAM30	1	120438365	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	91575080	120438365	128812256	4	2817											
PIAS3	10401	broad.mit.edu	37	1	145584527	145584527	+	Silent	SNP	T	T	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:145584527T>A	ENST00000393045.2	+	12	1584	c.1494T>A	c.(1492-1494)ccT>ccA	p.P498P	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Silent_p.P463P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	498					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAGGAGCCCTGCTATGGGCA	0.597																																						uc001eoc.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1492-1494)ccT>ccA		Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.							116	114	115					1																	145584527		2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584527T>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1494T>A	1.37:g.145584527T>A			Somatic				PIAS3_uc001eod.1_Silent_p.P167P	p.P498P	NM_006099	NP_006090	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			11	1585	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		498					Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.1494T>A	CCDS920.2																																																																																				0.597	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		8	225	0	0	0	1	0	8	225					A	145584527	T	A	145584527	2	1	163	1	0	0	0	0	0	0	0	1	11877	1567	55	5		5	PIAS3	1	145584527	Silent	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	25146162	145584527	103666094	5	2818											
PI4KB	5298	broad.mit.edu	37	1	151288518	151288518	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151288518T>C	ENST00000368873.1	-	2	608	c.440A>G	c.(439-441)tAc>tGc	p.Y147C	PI4KB_ENST00000368874.4_Missense_Mutation_p.Y147C|PI4KB_ENST00000271657.5_Missense_Mutation_p.Y159C|PI4KB_ENST00000368872.1_Missense_Mutation_p.Y147C|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368875.2_Missense_Mutation_p.Y159C			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	147	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTATACAGGTATGAAATGGC	0.498																																					Colon(154;765 1838 9854 28443 37492)	uc001exr.3																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(475-477)tAc>tGc		Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.							78	78	78					1																	151288518		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288518T>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.440A>G	1.37:g.151288518T>C	ENSP00000357867:p.Tyr147Cys		Somatic				PI4KB_uc001exs.3_Missense_Mutation_p.Y147C|PI4KB_uc001exu.3_Missense_Mutation_p.Y147C|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Missense_Mutation_p.Y147C	p.Y159C	NM_002651	NP_001185704	WXS	Illumina GAIIx	Phase_I	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1115	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		147					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.476A>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.020435	0.75275	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.97110	0.999;0.873;1.0	T	0.80011	-0.1561	10	0.87932	D	0	-2.9892	14.6298	0.68647	0.0:0.0:0.0:1.0	.	147;147;147	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	C	147;159;159;147;147;147	ENSP00000357868:Y147C;ENSP00000357869:Y159C;ENSP00000271657:Y159C;ENSP00000357867:Y147C;ENSP00000357866:Y147C;ENSP00000394719:Y147C	ENSP00000271657:Y159C	Y	-	2	0	PI4KB	149555142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.324000	0.78689	0.533000	0.62120	TAC		0.498	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		4	82	0	0	0	1	0	4	82					C	151288518	T	C	151288518	3	2	163	1	0	0	0	0	1	0	0	0	11874	1638	57	3	2054	3	PI4KB	1	151288518	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	5703991	151288518	97962103	6	2819											
RFX5	5993	broad.mit.edu	37	1	151316350	151316350	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:151316350C>T	ENST00000290524.4	-	9	742	c.564G>A	c.(562-564)atG>atA	p.M188I	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.M188I|RFX5_ENST00000452513.2_Missense_Mutation_p.M148I|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Missense_Mutation_p.M188I	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	188					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCTGGGCCCATTTCTGGCT	0.527																																						uc001exv.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(562-564)atG>atA		Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.							61	58	59					1																	151316350		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316350C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.564G>A	1.37:g.151316350C>T	ENSP00000290524:p.Met188Ile		Somatic				RFX5_uc001exw.1_Missense_Mutation_p.M188I|RFX5_uc010pcx.1_Missense_Mutation_p.M148I	p.M188I	NM_001025603	NP_001020774	WXS	Illumina GAIIx	Phase_I	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	778	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		188					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.564G>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764916	0.49574	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595	T;T;T;T;T;T;T	0.72051	0.35;0.35;-0.62;0.35;0.35;0.35;-0.61	5.81	5.81	0.92471	.	0.166795	0.53938	D	0.000058	T	0.50548	0.1622	L	0.51422	1.61	0.42662	D	0.993485	B;B	0.30406	0.278;0.01	B;B	0.24974	0.057;0.005	T	0.50849	-0.8779	10	0.27082	T	0.32	-17.0776	14.28	0.66205	0.0:0.8513:0.1487:0.0	.	148;188	B7Z848;P48382	.;RFX5_HUMAN	I	188;188;80;188;148;188;188	ENSP00000290524:M188I;ENSP00000357864:M188I;ENSP00000390769:M80I;ENSP00000389130:M188I;ENSP00000398388:M148I;ENSP00000376502:M188I;ENSP00000399095:M188I	ENSP00000290524:M188I	M	-	3	0	RFX5	149582974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.592000	0.53993	2.746000	0.94184	0.655000	0.94253	ATG		0.527	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		17	54	0	0	0	1	0	17	54					T	151316350	C	T	151316350	3	4	163	1	0	0	0	0	1	0	0	0	13266	594	21	2	1298	2	RFX5	1	151316350	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	27832	151316350	97934271	7	2820											
TMEM63A	9725	broad.mit.edu	37	1	226036682	226036682	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr1:226036682G>A	ENST00000366835.3	-	22	2373	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	701					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCAGCACCAGGAAGGTGAACA	0.612																																						uc001hpm.2																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2101-2103)ttC>ttT		Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.							38	33	35					1																	226036682		2203	4297	6500	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226036682G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2103C>T	1.37:g.226036682G>A			Somatic					p.F701F	NM_014698	NP_055513	WXS	Illumina GAIIx	Phase_I	O94886	TM63A_HUMAN			21	2725	-	Breast(184;0.197)		701					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.2103C>T	CCDS31042.1																																																																																				0.612	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		4	10	0	0	0	1	0	4	10					A	226036682	G	A	226036682	2	1	163	1	0	0	0	0	0	0	0	1	16187	1165	41	2		2	TMEM63A	1	226036682	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	74720332	226036682	23213939	8	2821											
SPDYA	245711	broad.mit.edu	37	2	29063092	29063092	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:29063092C>T	ENST00000334056.5	+	7	796	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	SPDYA_ENST00000379579.4_Missense_Mutation_p.H203Y|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCTGTTCATCACAGTGGAGC	0.398																																						uc002rmj.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(607-609)Cac>Tac		Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.							59	53	55					2																	29063092		2203	4300	6503	SO:0001583	missense	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29063092C>T	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.607C>T	2.37:g.29063092C>T	ENSP00000335628:p.His203Tyr		Somatic				SPDYA_uc002rmi.3_Missense_Mutation_p.H203Y|SPDYA_uc002rmk.3_Missense_Mutation_p.H203Y|SPDYA_uc002rml.3_Missense_Mutation_p.H203Y	p.H203Y	NM_182756	NP_877433	WXS	Illumina GAIIx	Phase_I	Q5MJ70	SPDYA_HUMAN			6	813	+	Acute lymphoblastic leukemia(172;0.155)		203						Missense_Mutation	SNP	ENST00000334056.5	37	c.607C>T	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404080	0.83230	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000001	T	0.80042	0.4551	M	0.72118	2.19	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80783	-0.1228	9	0.87932	D	0	-18.6128	20.0585	0.97663	0.0:1.0:0.0:0.0	.	203;203	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	Y	203	.	ENSP00000335628:H203Y	H	+	1	0	SPDYA	28916596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.631000	0.67812	2.812000	0.96745	0.557000	0.71058	CAC		0.398	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		5	37	0	0	0	1	0	5	37					T	29063092	C	T	29063092	3	4	163	1	0	0	0	0	1	0	0	0	15026	826	29	2	625	2	SPDYA	2	29063092	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		29063092	214136281	9	2822											
EHBP1	23301	broad.mit.edu	37	2	63091877	63091877	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:63091877G>A	ENST00000263991.5	+	10	1356	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	EHBP1_ENST00000354487.3_Missense_Mutation_p.E257K|EHBP1_ENST00000431489.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E257K|EHBP1_ENST00000405015.3_Missense_Mutation_p.E257K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	292						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCTATCACTGAAACAGCTTC	0.299																																						uc002sby.3																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(874-876)Gaa>Aaa		Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.							55	61	59					2																	63091877		2190	4295	6485	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63091877G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.874G>A	2.37:g.63091877G>A	ENSP00000263991:p.Glu292Lys		Somatic				EHBP1_uc010fcp.3_Missense_Mutation_p.E257K|EHBP1_uc002sbx.2_Missense_Mutation_p.E257K|EHBP1_uc002sbz.3_Missense_Mutation_p.E257K|EHBP1_uc002scb.3_Missense_Mutation_p.E257K	p.E292K	NM_015252	NP_056067	WXS	Illumina GAIIx	Phase_I	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		9	1356	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		292					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.874G>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712912	0.48517	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.74002	-0.8;0.91;-0.8;-0.79;-0.79;-0.79	5.54	5.54	0.83059	.	0.124682	0.56097	D	0.000031	T	0.70570	0.3239	L	0.56769	1.78	0.51767	D	0.999935	B;B;B	0.21606	0.027;0.004;0.058	B;B;B	0.18561	0.019;0.011;0.022	T	0.66396	-0.5934	10	0.41790	T	0.15	.	14.0777	0.64900	0.0725:0.0:0.9275:0.0	.	257;257;292	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	K	257;257;257;292;257;257	ENSP00000384143:E257K;ENSP00000384829:E257K;ENSP00000403783:E257K;ENSP00000263991:E292K;ENSP00000346482:E257K;ENSP00000385524:E257K	ENSP00000263991:E292K	E	+	1	0	EHBP1	62945381	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.412000	0.44609	2.765000	0.95021	0.557000	0.71058	GAA		0.299	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		13	67	0	0	0	1	0	13	67					A	63091877	G	A	63091877	3	1	163	1	0	0	0	0	1	0	0	0	4975	1291	45	2	908	2	EHBP1	2	63091877	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	34028785	63091877	180107496	10	2823											
KIAA1310	55683	broad.mit.edu	37	2	97270558	97270558	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr2:97270558G>A	ENST00000431828.1	-	16	2052	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Missense_Mutation_p.S572L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.S479L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	685					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCCCCTGCTGAAGCCTGCCC	0.522																																						uc002swn.4																			0											c.(1975-1977)tCa>tTa		Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.							56	57	57					2																	97270558		1974	4174	6148	SO:0001583	missense	55683							g.chr2:97270558G>A	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1976C>T	2.37:g.97270558G>A	ENSP00000396749:p.Ser659Leu		Somatic				KANSL3_uc002swh.4_Missense_Mutation_p.S545L|KANSL3_uc002swi.4_Missense_Mutation_p.S586L|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.S572L|KANSL3_uc010fhz.3_Missense_Mutation_p.S479L|KANSL3_uc002swl.4_Missense_Mutation_p.S558L|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.S453L|KANSL3_uc002swo.3_Missense_Mutation_p.S7L	p.S659L	NM_001115016	NP_060461	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			15	2122	-			685					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1976C>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131064	0.56828	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.45668	0.91;0.89	5.92	5.92	0.95590	.	0.485335	0.22920	N	0.054025	T	0.27697	0.0681	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.19706	0.022;0.02;0.013;0.038;0.034	B;B;B;B;B	0.19391	0.004;0.024;0.025;0.006;0.025	T	0.06917	-1.0800	10	0.30854	T	0.27	.	17.8282	0.88672	0.0:0.0:1.0:0.0	.	453;685;659;570;545	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	L	572;545;659;479;453	ENSP00000396749:S659L;ENSP00000406207:S479L	ENSP00000346144:S572L	S	-	2	0	KIAA1310	96634285	0.416000	0.25424	0.021000	0.16686	0.978000	0.69477	4.034000	0.57289	2.822000	0.97130	0.650000	0.86243	TCA		0.522	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		5	10	0	0	0	1	0	5	10					A	97270558	G	A	97270558	3	1	163	1	0	0	0	0	1	0	0	0	8222	1294	45	2	684	2	KIAA1310	2	97270558	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	34178681	97270558	145928815	11	2824											
LAMB2	3913	broad.mit.edu	37	3	49169963	49169963	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:49169963C>T	ENST00000418109.1	-	3	374	c.210G>A	c.(208-210)ctG>ctA	p.L70L	LAMB2_ENST00000305544.4_Silent_p.L70L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	70	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGCCATTCAGGCCACAAG	0.662																																						uc003cwe.3																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(208-210)ctG>ctA		Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.							44	47	46					3																	49169963		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169963C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.210G>A	3.37:g.49169963C>T			Somatic				LAMB2_uc003cwf.1_Silent_p.L70L	p.L70L	NM_002292	NP_002283	WXS	Illumina GAIIx	Phase_I	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	1	509	-			70			Laminin N-terminal.		Q16321	Silent	SNP	ENST00000418109.1	37	c.210G>A	CCDS2789.1																																																																																				0.662	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		22	76	0	0	0	1	0	22	76					T	49169963	C	T	49169963	2	4	163	1	0	0	0	0	0	0	0	1	8611	813	29	2		2	LAMB2	3	49169963	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		49169963	148852467	12	2825											
ADAMTS9	56999	broad.mit.edu	37	3	64527264	64527264	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:64527264T>C	ENST00000498707.1	-	34	5572	c.5230A>G	c.(5230-5232)Aga>Gga	p.R1744G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1716G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1744	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTTTAAGTCTTTTTACCTCC	0.383																																						uc003dmg.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5230-5232)Aga>Gga		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.							165	166	166					3																	64527264		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527264T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5230A>G	3.37:g.64527264T>C	ENSP00000418735:p.Arg1744Gly		Somatic				ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1716G|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R655G	p.R1744G	NM_182920	NP_891550	WXS	Illumina GAIIx	Phase_I	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	33	5262	-		Lung NSC(201;0.00682)	1744			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5230A>G	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	1.241	-0.621453	0.03636	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18338	2.22;2.22	5.75	0.439	0.16567	Peptidase M12B, GON-ADAMTSs (2);	0.331513	0.32231	N	0.006395	T	0.14399	0.0348	L	0.54323	1.7	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28933	-1.0028	10	0.23302	T	0.38	.	9.8863	0.41264	0.0:0.0631:0.4741:0.4628	.	1716;1744	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	G	1716;1744	ENSP00000295903:R1716G;ENSP00000418735:R1744G	ENSP00000295903:R1716G	R	-	1	2	ADAMTS9	64502304	0.189000	0.23263	0.000000	0.03702	0.239000	0.25481	0.350000	0.20079	-0.141000	0.11374	0.459000	0.35465	AGA		0.383	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			3	180	0	0	0	1	0	3	180					C	64527264	T	C	64527264	3	2	163	1	0	0	0	0	1	0	0	0	273	1617	56	3	601	3	ADAMTS9	3	64527264	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	15357301	64527264	133495166	13	2826											
KPNA1	3836	broad.mit.edu	37	3	122145978	122145978	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:122145978C>T	ENST00000344337.6	-	14	1647	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	491					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)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGTAGATCTCCTGGTTTTCA	0.378																																					Melanoma(12;340 801 11196 19797)	uc003efe.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(1471-1473)Gag>Aag		Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.							124	112	116					3																	122145978		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122145978C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1471G>A	3.37:g.122145978C>T	ENSP00000343701:p.Glu491Lys		Somatic				KPNA1_uc003efb.1_Missense_Mutation_p.E290K|KPNA1_uc003efc.1_Missense_Mutation_p.E290K|KPNA1_uc011bjr.1_Missense_Mutation_p.E290K|KPNA1_uc010hrh.2_Missense_Mutation_p.E290K	p.E491K	NM_002264	NP_002255	WXS	Illumina GAIIx	Phase_I	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	13	1659	-			491					D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.1471G>A	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582247	0.65992	.	.	ENSG00000114030	ENST00000344337	T	0.35236	1.32	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.045845	0.85682	D	0.000000	T	0.45418	0.1341	M	0.73430	2.235	0.80722	D	1	P	0.40107	0.703	B	0.40982	0.345	T	0.42616	-0.9441	10	0.41790	T	0.15	-7.7822	18.414	0.90562	0.0:1.0:0.0:0.0	.	491	P52294	IMA1_HUMAN	K	491	ENSP00000343701:E491K	ENSP00000343701:E491K	E	-	1	0	KPNA1	123628668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.827000	0.97445	0.650000	0.86243	GAG		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		16	55	0	0	0	1	0	16	55					T	122145978	C	T	122145978	3	4	163	1	0	0	0	0	1	0	0	0	8429	864	30	2	149	2	KPNA1	3	122145978	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	57618714	122145978	75876452	14	2827											
ALG3	10195	broad.mit.edu	37	3	183966696	183966697	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr3:183966696_183966697GG>AA	ENST00000397676.3	-	1	62_63	c.32_33CC>TT	c.(31-33)tCC>tTT	p.S11F	ALG3_ENST00000445626.2_Intron|ALG3_ENST00000418734.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_5'Flank|ECE2_ENST00000402825.3_5'Flank|ALG3_ENST00000455059.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	11					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGGAACCGGACCGGCCGCG	0.698																																						uc003fne.2																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(31-33)tcc>tTT		Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.																																				SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183966696_183966697GG>AA	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.32_33delinsAA	3.37:g.183966696_183966697delinsAA	ENSP00000380793:p.Ser11Phe		Somatic				ALG3_uc011brc.1_5'UTR|ALG3_uc011brd.1_5'UTR|ALG3_uc011bre.1_Intron|ALG3_uc011brf.1_5'UTR|ECE2_uc003fnh.4_5'Flank|ECE2_uc003fni.4_5'Flank	p.S11F	NM_005787	NP_005778	WXS	Illumina GAIIx	Phase_I	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		0	63_64	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		11					A8JZZ6|Q9BT71	Missense_Mutation	DNP	ENST00000397676.3	37	c.32_33CC>TT	CCDS46968.1																																																																																				0.698	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		4	7	0	0	0	1	0	4	7					AA	183966697	GG	AA	183966696	3	1	163	1	0	0	0	0	1	0	0	0	520	1103	39	1	1319	1	ALG3	3	183966696	Missense_Mutation	DNP	GG	TCGA-EL-A3CT-01A-12D-A202-08	61820718	183966696	14055734	15	2828											
ZNF721	170960	broad.mit.edu	37	4	435626	435626	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:435626G>A	ENST00000338977.5	-	2	2642	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.S877F|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	865					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGATTTGCAGACTGTCTAAA	0.403																																						uc003gaf.4																			0											c.(2725-2727)tCt>tTt		Homo sapiens zinc finger protein 721 (ZNF721), mRNA.							68	71	70					4																	435626		2058	4228	6286	SO:0001583	missense	79963							g.chr4:435626G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2594C>T	4.37:g.435626G>A	ENSP00000340524:p.Ser865Phe		Somatic				ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.S877F|ABCA11P_uc010ibe.3_Missense_Mutation_p.S865F	p.S909F	NM_133474	NP_597731	WXS	Illumina GAIIx	Phase_I					2	2952	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	1.485	-0.556216	0.03967	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.29397	1.57;1.57	0.539	-1.08	0.09936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29028	0.0721	M	0.72624	2.21	0.09310	N	1	P;P;D	0.56035	0.676;0.956;0.974	P;B;P	0.45558	0.485;0.271;0.46	T	0.21552	-1.0242	9	0.21540	T	0.41	.	4.2358	0.10625	0.0:1.0E-4:0.3526:0.6473	.	865;877;877	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	F	865;877	ENSP00000340524:S865F;ENSP00000428878:S877F	ENSP00000340524:S865F	S	-	2	0	ZNF721	425626	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-2.315000	0.01124	-0.579000	0.05952	0.205000	0.17691	TCT		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		15	52	0	0	0	1	0	15	52					A	435626	G	A	435626	3	1	163	1	0	0	0	0	1	0	0	0	18119	942	33	2	145	2	ZNF721	4	435626	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		435626	190718650	16	2829											
NAAA	27163	broad.mit.edu	37	4	76861902	76861902	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr4:76861902G>A	ENST00000286733.4	-	1	302	c.201C>T	c.(199-201)gtC>gtT	p.V67V	NAAA_ENST00000399497.3_Silent_p.V67V|NAAA_ENST00000507956.1_Silent_p.V67V|NAAA_ENST00000507187.2_Silent_p.V67V|NAAA_ENST00000505594.1_5'Flank	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	67					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CTCACCCGATGACTTGCGCCA	0.687																																						uc003hjb.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(199-201)gtC>gtT		Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.							12	13	13					4																	76861902		1904	4058	5962	SO:0001819	synonymous_variant	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76861902G>A	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"N-acylsphingosine amidohydrolase (acid ceramidase)-like"	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.201C>T	4.37:g.76861902G>A			Somatic				NAAA_uc003hja.3_Silent_p.V67V|NAAA_uc003hjc.4_Silent_p.V67V|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_5'Flank|NAAA_uc010iiz.1_Silent_p.V67V	p.V67V	NM_014435	NP_055250	WXS	Illumina GAIIx	Phase_I	Q02083	NAAA_HUMAN			0	265	-			67					Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	ENST00000286733.4	37	c.201C>T	CCDS43239.1																																																																																				0.687	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			17	24	0	0	0	1	0	17	24					A	76861902	G	A	76861902	2	1	163	1	0	0	0	0	0	0	0	1	10127	1277	45	2		2	NAAA	4	76861902	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	76426276	76861902	114292374	17	2830											
PELO	53918	broad.mit.edu	37	5	52096595	52096595	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:52096595G>A	ENST00000274311.2	+	2	1352	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	123					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TGTGGTACTGGAGCGCATCGA	0.587																																						uc003jos.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(367-369)Gag>Aag		Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.							63	59	61					5																	52096595		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096595G>A		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.367G>A	5.37:g.52096595G>A	ENSP00000274311:p.Glu123Lys		Somatic				ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	p.E123K	NM_015946	NP_057030	WXS	Illumina GAIIx	Phase_I	Q9BRX2	PELO_HUMAN			1	1352	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	123					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.367G>A	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030565	0.75504	.	.	ENSG00000152684	ENST00000274311	T	0.45276	0.9	5.66	4.74	0.60224	eRF1 domain 1/Pelota-like (1);	0.063541	0.64402	U	0.000008	T	0.46405	0.1391	M	0.80982	2.52	0.58432	D	0.999995	B	0.25169	0.119	B	0.25614	0.062	T	0.41822	-0.9487	10	0.26408	T	0.33	-19.2634	15.0742	0.72063	0.0:0.0:0.8574:0.1425	.	123	Q9BRX2	PELO_HUMAN	K	123	ENSP00000274311:E123K	ENSP00000274311:E123K	E	+	1	0	PELO	52132352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.047000	0.76599	2.665000	0.90641	0.563000	0.77884	GAG		0.587	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		16	55	0	0	0	1	0	16	55					A	52096595	G	A	52096595	3	1	163	1	0	0	0	0	1	0	0	0	11724	1175	41	2	369	2	PELO	5	52096595	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		52096595	128818665	18	2831											
PCDHGA12	26025	broad.mit.edu	37	5	140810404	140810404	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:140810404C>T	ENST00000252085.3	+	1	220	c.78C>T	c.(76-78)acC>acT	p.T26T	PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	26					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGAGACCGGATGCACCC	0.582																																						uc003lkt.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(76-78)acC>acT		Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.							83	94	90					5																	140810404		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810404C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.78C>T	5.37:g.140810404C>T			Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.T26T	p.T26T	NM_003735	NP_003726	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	247	+			28					O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.78C>T	CCDS4260.1																																																																																				0.582	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		11	202	0	0	0	1	0	11	202					T	140810404	C	T	140810404	2	4	163	1	0	0	0	0	0	0	0	1	11553	639	23	1		1	PCDHGA12	5	140810404	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	88713809	140810404	40104856	19	2832											
ODZ2	57451	broad.mit.edu	37	5	167553841	167553841	+	Silent	SNP	G	G	A	rs375025819	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167553841G>A	ENST00000518659.1	+	12	2331	c.2292G>A	c.(2290-2292)gcG>gcA	p.A764A	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Silent_p.A764A|TENM2_ENST00000403607.2_Silent_p.A597A|TENM2_ENST00000519204.1_Silent_p.A643A|TENM2_ENST00000520394.1_Silent_p.A532A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	764	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										CAGGCGCAGCGTGTGACCAGC	0.587													G|||	2	0.000399361	0.0015	0	5008	,	,		15218	0		0	False		,,,				2504	0					uc010jjd.3																			0		p.S763Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(2290-2292)gcG>gcA		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.		G		6,4094		0,6,2044	44	50	48		2292	-0.9	1.0	5		48	1,8355		0,1,4177	no	coding-synonymous	ODZ2	NM_001122679.1		0,7,6221	AA,AG,GG		0.012,0.1463,0.0562		764/2766	167553841	7,12449	2050	4178	6228	SO:0001819	synonymous_variant	57451							g.chr5:167553841G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2292G>A	5.37:g.167553841G>A			Somatic				ODZ2_uc003lzr.4_Silent_p.A532A|ODZ2_uc003lzt.4_Silent_p.A128A|ODZ2_uc010jje.3_Silent_p.A35A	p.A764A	NM_001122679	NP_001116151	WXS	Illumina GAIIx	Phase_I			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	11	2292	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.2292G>A																																																																																					0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	30	0	0	0	1	0	4	30					A	167553841	G	A	167553841	2	1	163	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167553841	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	26743437	167553841	13361419	20	2833											
WWC1	23286	broad.mit.edu	37	5	167887657	167887657	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr5:167887657G>A	ENST00000265293.4	+	20	3328	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.L942L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	942	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTTGCAGCTGAATCGGAGTG	0.517																																						uc011den.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2824-2826)ctG>ctA		Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 1, mRNA.							96	95	95					5																	167887657		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167887657G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2826G>A	5.37:g.167887657G>A			Somatic				WWC1_uc003lzv.3_Silent_p.L942L|WWC1_uc003lzu.3_Silent_p.L942L|WWC1_uc003lzw.3_Silent_p.L741L|WWC1_uc010jjf.1_Silent_p.L214L	p.L942L	NM_001161661	NP_001155133	WXS	Illumina GAIIx	Phase_I	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	2919	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	942			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2826G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006243	0.35415	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.83	4.04	0.47022	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54214	-0.8327	4	.	.	.	.	8.5137	0.33233	0.1335:0.0:0.7412:0.1253	.	.	.	.	K	904;719	.	.	E	+	1	0	WWC1	167820235	0.968000	0.33430	0.998000	0.56505	0.990000	0.78478	0.084000	0.14891	0.785000	0.33685	0.650000	0.86243	GAA		0.517	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		16	37	0	0	0	1	0	16	37					A	167887657	G	A	167887657	2	1	163	1	0	0	0	0	0	0	0	1	17408	1277	45	2		2	WWC1	5	167887657	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	333816	167887657	13027603	21	2834											
GFOD1	54438	broad.mit.edu	37	6	13487069	13487069	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:13487069G>C	ENST00000379287.3	-	1	718	c.54C>G	c.(52-54)atC>atG	p.I18M	GFOD1_ENST00000603223.1_Missense_Mutation_p.I18M|GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000379278.3_5'Flank|AL583828.1_ENST00000558378.1_5'Flank	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	18						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCAGCAGCGGGATGATGACAC	0.647																																						uc003nat.2																			0		p.I17T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(52-54)atC>atG		Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.							69	64	66					6																	13487069		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13487069G>C	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.54C>G	6.37:g.13487069G>C	ENSP00000368589:p.Ile18Met		Somatic				GFOD1_uc003nas.2_5'Flank|GFOD1_uc003nav.3_5'Flank|GFOD1_uc021ylu.1_Missense_Mutation_p.I18M	p.I18M	NM_018988	NP_001229559	WXS	Illumina GAIIx	Phase_I	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		0	801	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	18					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.54C>G	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804066	0.70682	.	.	ENSG00000145990	ENST00000379287	T	0.24350	1.86	4.36	4.36	0.52297	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.190598	0.45867	D	0.000337	T	0.41858	0.1177	M	0.84326	2.69	0.39538	D	0.968777	P	0.44877	0.845	P	0.62298	0.9	T	0.35400	-0.9790	10	0.51188	T	0.08	-26.9763	12.3539	0.55163	0.0:0.1717:0.8283:0.0	.	18	Q9NXC2	GFOD1_HUMAN	M	18	ENSP00000368589:I18M	ENSP00000368589:I18M	I	-	3	3	GFOD1	13595048	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.705000	0.25675	2.255000	0.74692	0.536000	0.68110	ATC		0.647	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		16	105	0	0	0	1	0	16	105					C	13487069	G	C	13487069	3	2	163	1	0	0	0	0	1	0	0	0	6343	1164	41	4	1126	4	GFOD1	6	13487069	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		13487069	157627998	22	2835											
HIST1H3E	8353	broad.mit.edu	37	6	26225757	26225757	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:26225757C>T	ENST00000360408.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	125					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CTAAAGACATCCAGCTTGCCC	0.542											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhb.2																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(373-375)atC>atT		Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.							85	88	87					6																	26225757		2203	4300	6503	SO:0001819	synonymous_variant	8353				S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225757C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.375C>T	6.37:g.26225757C>T			Somatic	OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H3E_uc003nhc.4_Silent_p.I125I	p.I125I	NM_021018	NP_066298	WXS	Illumina GAIIx	Phase_I	P68431	H31_HUMAN			1	735	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	125					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000360408.1	37	c.375C>T	CCDS4596.1																																																																																				0.542	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		25	88	0	0	0	1	0	25	88					T	26225757	C	T	26225757	2	4	163	1	0	0	0	0	0	0	0	1	7159	845	30	2		2	HIST1H3E	6	26225757	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	12738688	26225757	144889310	23	2836											
OR5V1	81696	broad.mit.edu	37	6	29323725	29323725	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:29323725A>G	ENST00000377154.1	-	4	547	c.248T>C	c.(247-249)gTg>gCg	p.V83A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V83A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V83A(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGGAGGTGCACCATCATCTG	0.433																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.2																			1	Substitution - Missense(1)	p.V83A(2)|p.M82I(1)	lung(1)	breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(247-249)gTg>gCg		Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.							113	108	110					6																	29323725		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323725A>G		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.248T>C	6.37:g.29323725A>G	ENSP00000366359:p.Val83Ala		Somatic					p.V83A	NM_030876	NP_110503	WXS	Illumina GAIIx	Phase_I	Q9UGF6	OR5V1_HUMAN			0	330	-			83					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.248T>C	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	5.814	0.334415	0.11013	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00388	7.59;7.59	4.22	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30193	N	0.010199	T	0.00039	0.0001	N	0.21508	0.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38112	-0.9676	10	0.10377	T	0.69	-3.5415	3.2304	0.06746	0.6348:0.1428:0.084:0.1384	.	83	Q9UGF6	OR5V1_HUMAN	A	83	ENSP00000366359:V83A;ENSP00000443309:V83A	ENSP00000366356:V83A	V	-	2	0	OR5V1	29431704	0.000000	0.05858	0.999000	0.59377	0.438000	0.31896	-5.120000	0.00149	0.736000	0.32559	0.438000	0.28831	GTG		0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			17	147	0	0	0	1	0	17	147					G	29323725	A	G	29323725	3	3	163	1	0	0	0	0	1	0	0	0	11184	159	6	3	720	3	OR5V1	6	29323725	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	3097968	29323725	141791342	24	2837											
POU5F1	5460	broad.mit.edu	37	6	31133468	31133468	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31133468G>A	ENST00000259915.8	-	3	609	c.537C>T	c.(535-537)ttC>ttT	p.F179F	POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000606567.1_Silent_p.F9F|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000513407.1_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	179	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|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)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	TCGTTTGGCTGAATACCTTCC	0.557			T	EWSR1	sarcoma																																	uc003nsv.3				Dom	yes		6	6p21.31	5460	T	"POU domain, class 5, transcription factor 1"			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	0				breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						c.(535-537)ttC>ttT		Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.							22	24	23					6																	31133468		1511	2709	4220	SO:0001819	synonymous_variant	5460				BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31133468G>A	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.537C>T	6.37:g.31133468G>A			Somatic				POU5F1_uc003nsu.3_Silent_p.F8F|POU5F1_uc021yuj.1_Silent_p.F8F|POU5F1_uc011dnf.1_5'Flank	p.F179F	NM_002701	NP_002692	WXS	Illumina GAIIx	Phase_I	Q01860	PO5F1_HUMAN			2	591	-			179			POU-specific.		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Silent	SNP	ENST00000259915.8	37	c.537C>T	CCDS34391.1																																																																																				0.557	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		4	25	0	0	0	1	0	4	25					A	31133468	G	A	31133468	2	1	163	1	0	0	0	0	0	0	0	1	12281	1281	45	2		2	POU5F1	6	31133468	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1809743	31133468	139981599	25	2838											
NFKBIL1	534	broad.mit.edu	37	6	31516041	31516041	+	5'Flank	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:31516041C>T	ENST00000303892.5	-	0	0				NFKBIL1_ENST00000376148.4_Silent_p.L53L|ATP6V1G2_ENST00000483251.1_5'Flank|ATP6V1G2_ENST00000376151.4_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_5'Flank|ATP6V1G2_ENST00000483170.1_5'Flank|NFKBIL1_ENST00000376145.4_Silent_p.L53L|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGGCCCTCCTCCAGCGACACC	0.682																																						uc003nub.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(157-159)ctC>ctT		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.							44	36	39					6																	31516041		1511	2709	4220	SO:0001631	upstream_gene_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31516041C>T	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"ATPases / V-type"	862	protein-coding gene	gene with protein product		606853	"ATPase, H+ transporting, lysosomal (vacuolar proton pump)", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618		6.37:g.31516041C>T	Exception_encountered		Somatic				DDX39B_uc003ntv.3_5'Flank|ATP6V1G2_uc003ntz.3_5'Flank|ATP6V1G2_uc003nua.3_5'Flank|ATP6V1G2_uc021yur.1_5'Flank|NFKBIL1_uc011dnr.2_Silent_p.L30L|NFKBIL1_uc011dns.2_Silent_p.L30L|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Silent_p.L53L	p.L53L	NM_005007	NP_001138434	WXS	Illumina GAIIx	Phase_I	Q9UBC1	IKBL1_HUMAN			1	278	+			53					B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Silent	SNP	ENST00000303892.5	37	c.159C>T	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	c	16.89	3.247290	0.59103	.	.	ENSG00000213760	ENST00000415099	T	0.59364	0.27	5.18	-1.06	0.10002	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26815	-1.0092	6	0.02654	T	1	-10.6034	9.8545	0.41077	0.0:0.3781:0.5302:0.0917	.	.	.	.	E	55	ENSP00000390148:G55E	ENSP00000390148:G55E	G	-	2	0	ATP6V1G2	31624020	0.805000	0.28982	0.997000	0.53966	0.997000	0.91878	-0.174000	0.09839	-0.110000	0.12022	0.651000	0.88453	GGA		0.682	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463		20	57	0	0	0	1	0	20	57					T	31516041	C	T	31516041	1	4	163	0	1	0	0	0	0	0	0	0	10381	842	30	2		2	NFKBIL1	6	31516041	5'Flank	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	382573	31516041	139599026	26	2839											
C6orf138	442213	broad.mit.edu	37	6	47847599	47847599	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:47847599G>C	ENST00000339488.4	-	3	1014	c.981C>G	c.(979-981)gaC>gaG	p.D327E		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	327	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTGCTATCCTGTCTTTGAAGG	0.433																																						uc011dwm.2																			0											c.(979-981)gaC>gaG		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							34	35	35					6																	47847599		2203	4299	6502	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847599G>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.981C>G	6.37:g.47847599G>C	ENSP00000341914:p.Asp327Glu		Somatic				PTCHD4_uc011dwn.2_Missense_Mutation_p.D74E	p.D327E	NM_001013732	NP_001013754	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			2	1015	-			327			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.981C>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	0.829	-0.745971	0.03065	.	.	ENSG00000244694	ENST00000339488	D	0.90676	-2.71	5.25	5.25	0.73442	Sterol-sensing domain (1);	.	.	.	.	T	0.61602	0.2360	N	0.01679	-0.765	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.66504	-0.5907	9	0.02654	T	1	.	18.8631	0.92281	0.0:0.0:1.0:0.0	.	327	Q6ZW05	CF138_HUMAN	E	327	ENSP00000341914:D327E	ENSP00000341914:D327E	D	-	3	2	C6orf138	47955558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.517000	0.35867	2.473000	0.83533	0.650000	0.86243	GAC		0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		2	16	0	0	0	1	0	2	16					C	47847599	G	C	47847599	3	2	163	1	0	0	0	0	1	0	0	0	2332	1368	48	4	1563	4	C6orf138	6	47847599	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	16331558	47847599	123267468	27	2840											
KIAA1244	57221	broad.mit.edu	37	6	138583995	138583995	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:138583995G>A	ENST00000251691.4	+	12	1541	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		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)		TCTGCGCCTTGAGGAGCTGAA	0.612																																						uc003qhu.3																			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.(1375-1377)Gag>Aag		Homo sapiens KIAA1244 (KIAA1244), mRNA.							100	80	87					6																	138583995		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138583995G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1375G>A	6.37:g.138583995G>A	ENSP00000251691:p.Glu459Lys		Somatic					p.E459K	NM_020340	NP_065073	WXS	Illumina GAIIx	Phase_I	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	11	1546	+	Breast(32;0.135)		459						Missense_Mutation	SNP	ENST00000251691.4	37	c.1375G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130896	0.77549	.	.	ENSG00000112379	ENST00000251691	T	0.19669	2.13	5.62	5.62	0.85841	.	0.179644	0.49305	D	0.000148	T	0.12987	0.0315	L	0.44542	1.39	0.51482	D	0.999924	B	0.31383	0.321	B	0.26770	0.073	T	0.02728	-1.1118	10	0.66056	D	0.02	-21.4056	19.6685	0.95901	0.0:0.0:1.0:0.0	.	459	Q5TH69	BIG3_HUMAN	K	459	ENSP00000251691:E459K	ENSP00000251691:E459K	E	+	1	0	KIAA1244	138625688	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.496000	0.97967	2.639000	0.89480	0.655000	0.94253	GAG		0.612	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		9	35	0	0	0	1	0	9	35					A	138583995	G	A	138583995	3	1	163	1	0	0	0	0	1	0	0	0	8217	1291	45	2	1421	2	KIAA1244	6	138583995	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	90736396	138583995	32531072	28	2841											
RAB32	10981	broad.mit.edu	37	6	146875728	146875728	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:146875728C>T	ENST00000367495.3	+	3	844	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	222					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	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)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GAGAACAAATCCCAGTGTTGC	0.428																																						uc003qln.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(664-666)tCc>tTc		Homo sapiens RAB32, member RAS oncogene family (RAB32), mRNA.							126	127	126					6																	146875728		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146875728C>T	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.665C>T	6.37:g.146875728C>T	ENSP00000356465:p.Ser222Phe		Somatic					p.S222F	NM_006834	NP_006825	WXS	Illumina GAIIx	Phase_I	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	2	845	+		Ovarian(120;0.142)	222						Missense_Mutation	SNP	ENST00000367495.3	37	c.665C>T	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332102	0.41297	.	.	ENSG00000118508	ENST00000367495	T	0.72725	-0.68	5.79	5.79	0.91817	.	0.278885	0.42294	D	0.000726	T	0.42200	0.1192	N	0.19112	0.55	0.49389	D	0.999785	B	0.15719	0.014	B	0.18263	0.021	T	0.47289	-0.9129	10	0.59425	D	0.04	-8.703	10.4324	0.44415	0.0:0.8562:0.0:0.1438	.	222	Q13637	RAB32_HUMAN	F	222	ENSP00000356465:S222F	ENSP00000356465:S222F	S	+	2	0	RAB32	146917421	1.000000	0.71417	0.917000	0.36280	0.995000	0.86356	4.412000	0.59787	2.722000	0.93159	0.655000	0.94253	TCC		0.428	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		10	162	0	0	0	1	0	10	162					T	146875728	C	T	146875728	3	4	163	1	0	0	0	0	1	0	0	0	12921	855	30	2	675	2	RAB32	6	146875728	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	8291733	146875728	24239339	29	2842											
DYNLT1	6993	broad.mit.edu	37	6	159058168	159058168	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058168G>A	ENST00000367089.3	-	4	293	c.263C>T	c.(262-264)tCt>tTt	p.S88F	DYNLT1_ENST00000367088.1_Missense_Mutation_p.S19F	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	88	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		ACCGTCAGTAGAGCTGTCCCA	0.363																																						uc003qrn.2																			0				lung(2)	2						c.(262-264)tCt>tTt		Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.							71	67	69					6																	159058168		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	Golgi apparatus|cytoplasmic dynein complex|microtubule|spindle	identical protein binding|motor activity	g.chr6:159058168G>A	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"Cytoplasmic dyneins"	11697	protein-coding gene	gene with protein product		601554	"t-complex-associated-testis-expressed 1-like 1"	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.263C>T	6.37:g.159058168G>A	ENSP00000356056:p.Ser88Phe		Somatic					p.S88F	NM_006519	NP_006510	WXS	Illumina GAIIx	Phase_I	P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	3	327	-		Breast(66;0.00519)|Ovarian(120;0.123)	88			Interaction with GNB1 (By similarity).		Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.263C>T	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200929	0.38905	.	.	ENSG00000146425	ENST00000367089;ENST00000367088	T;T	0.31769	1.48;1.48	5.11	4.22	0.49857	.	0.392819	0.28946	N	0.013626	T	0.17746	0.0426	L	0.52126	1.63	0.80722	D	1	B	0.06786	0.001	B	0.16289	0.015	T	0.07385	-1.0775	10	0.87932	D	0	-12.8219	15.0405	0.71788	0.0:0.0:0.8567:0.1433	.	88	P63172	DYLT1_HUMAN	F	88;19	ENSP00000356056:S88F;ENSP00000356055:S19F	ENSP00000356055:S19F	S	-	2	0	DYNLT1	158978156	1.000000	0.71417	0.844000	0.33320	0.620000	0.37586	5.242000	0.65389	1.240000	0.43803	0.655000	0.94253	TCT		0.363	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		9	51	0	0	0	1	0	9	51					A	159058168	G	A	159058168	3	1	163	1	0	0	0	0	1	0	0	0	4852	942	33	2	86	2	DYNLT1	6	159058168	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	12182440	159058168	12056899	30	2843			1	10		2	2	19	G		5.407402e-05
DYNLT1	6993	broad.mit.edu	37	6	159058186	159058186	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159058186G>A	ENST00000367089.3	-	4	275	c.245C>T	c.(244-246)tCc>tTc	p.S82F	DYNLT1_ENST00000367088.1_Missense_Mutation_p.S13F	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	82	Interaction with GNB1. {ECO:0000250}.				establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCAGAAGCAGGAACTTGCTGT	0.368																																						uc003qrn.2																			0				lung(2)	2						c.(244-246)tCc>tTc		Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.							79	74	76					6																	159058186		2203	4300	6503	SO:0001583	missense	6993				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	Golgi apparatus|cytoplasmic dynein complex|microtubule|spindle	identical protein binding|motor activity	g.chr6:159058186G>A	D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"Cytoplasmic dyneins"	11697	protein-coding gene	gene with protein product		601554	"t-complex-associated-testis-expressed 1-like 1"	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.245C>T	6.37:g.159058186G>A	ENSP00000356056:p.Ser82Phe		Somatic					p.S82F	NM_006519	NP_006510	WXS	Illumina GAIIx	Phase_I	P63172	DYLT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)	3	309	-		Breast(66;0.00519)|Ovarian(120;0.123)	82			Interaction with GNB1 (By similarity).		Q15763|Q5VTU4	Missense_Mutation	SNP	ENST00000367089.3	37	c.245C>T	CCDS5257.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820451	0.90873	.	.	ENSG00000146425	ENST00000367089;ENST00000367088	T;T	0.33438	1.41;1.41	5.11	5.11	0.69529	.	0.054302	0.85682	D	0.000000	T	0.64605	0.2613	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76879	-0.2796	10	0.87932	D	0	-40.5174	18.9189	0.92518	0.0:0.0:1.0:0.0	.	82	P63172	DYLT1_HUMAN	F	82;13	ENSP00000356056:S82F;ENSP00000356055:S13F	ENSP00000356055:S13F	S	-	2	0	DYNLT1	158978174	1.000000	0.71417	0.837000	0.33122	0.867000	0.49689	9.462000	0.97649	2.535000	0.85469	0.655000	0.94253	TCC		0.368	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042881.1	NM_006519		12	54	0	0	0	1	0	12	54					A	159058186	G	A	159058186	3	1	163	1	0	0	0	0	1	0	0	0	4852	1174	41	2	104	2	DYNLT1	6	159058186	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	18	159058186	12056881	31	2844			1	10		2	2	19	G		5.407402e-05
EZR	7430	broad.mit.edu	37	6	159206498	159206498	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr6:159206498G>A	ENST00000367075.3	-	5	478	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	EZR_ENST00000337147.7_Missense_Mutation_p.L104F|EZR_ENST00000392177.4_Missense_Mutation_p.L72F|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCACTTGGAGGAAGAAAAGT	0.542			T	ROS1	NSCLC																																	uc003qrt.4				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(310-312)Ctc>Ttc		Homo sapiens ezrin (EZR), transcript variant 1, mRNA.							103	83	90					6																	159206498		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159206498G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.310C>T	6.37:g.159206498G>A	ENSP00000356042:p.Leu104Phe		Somatic				EZR_uc011efs.2_Missense_Mutation_p.L72F|EZR_uc003qru.4_Missense_Mutation_p.L104F	p.L104F	NM_003379	NP_003370	WXS	Illumina GAIIx	Phase_I	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	3	525	-		Breast(66;0.000776)|Ovarian(120;0.0303)	104			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.310C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183724	0.78677	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.79845	-1.31;-1.31;-1.31	4.34	4.34	0.51931	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.144727	0.48767	D	0.000173	D	0.93697	0.7986	H	0.99249	4.485	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73708	0.966;0.981	D	0.96493	0.9365	10	0.87932	D	0	.	17.0524	0.86523	0.0:0.0:1.0:0.0	.	72;104	E7EQR4;P15311	.;EZRI_HUMAN	F	104;104;72	ENSP00000338934:L104F;ENSP00000356042:L104F;ENSP00000376016:L72F	ENSP00000338934:L104F	L	-	1	0	EZR	159126486	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.260000	0.72502	2.248000	0.74166	0.650000	0.86243	CTC		0.542	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		30	94	0	0	0	1	0	30	94					A	159206498	G	A	159206498	3	1	163	1	0	0	0	0	1	0	0	0	5335	1000	35	2	1490	2	EZR	6	159206498	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	148312	159206498	11908569	32	2845											
FIGNL1	63979	broad.mit.edu	37	7	50514709	50514709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:50514709G>A	ENST00000419119.1	-	2	1830	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q93*|FIGNL1_ENST00000435566.1_Silent_p.L54L			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	93					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TCTGTTTGTTGAGATCCTGCC	0.323																																						uc003tpd.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(277-279)Caa>Taa		Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.							104	103	103					7																	50514709		2203	4300	6503	SO:0001587	stop_gained	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514709G>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.277C>T	7.37:g.50514709G>A	ENSP00000410811:p.Gln93*		Somatic				FIGNL1_uc003tpb.3_5'UTR|FIGNL1_uc003tpc.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc003tpe.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc010kyy.3_Nonsense_Mutation_p.Q93*|FIGNL1_uc022ada.1_Nonsense_Mutation_p.Q93*	p.Q93*	NM_022116	NP_071399	WXS	Illumina GAIIx	Phase_I	Q6PIW4	FIGL1_HUMAN			3	647	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	93					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	ENST00000419119.1	37	c.277C>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	41	8.923951	0.99004	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590;ENST00000422854;ENST00000440350	.	.	.	5.16	5.16	0.70880	.	0.064959	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-5.4123	14.696	0.69121	0.0:0.0:0.8542:0.1458	.	.	.	.	X	93	.	ENSP00000349356:Q93X	Q	-	1	0	FIGNL1	50482203	1.000000	0.71417	0.982000	0.44146	0.956000	0.61745	6.124000	0.71620	2.564000	0.86499	0.563000	0.77884	CAA		0.323	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		30	105	0	0	0	1	0	30	105					A	50514709	G	A	50514709	4	1	163	1	0	0	0	0	0	1	0	0	5892	1299	45	2	1751	2	FIGNL1	7	50514709	Nonsense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		50514709	108623954	33	2846											
PTPRZ1	5803	broad.mit.edu	37	7	121636594	121636594	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:121636594T>G	ENST00000393386.2	+	9	1498	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F363V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	363	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAAGCATGAATTTTTGACAGA	0.363																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(1087-1089)Ttt>Gtt		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							162	157	159					7																	121636594		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121636594T>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1087T>G	7.37:g.121636594T>G	ENSP00000377047:p.Phe363Val		Somatic				PTPRZ1_uc011knt.2_Missense_Mutation_p.F363V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.F363V	p.F363V	NM_002851	NP_002842	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			8	1482	+			363			Fibronectin type-III.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.1087T>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.186430	0.57909	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.56941	0.43;0.43	5.74	4.56	0.56223	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.165528	0.43416	N	0.000574	T	0.40119	0.1104	N	0.19112	0.55	0.31041	N	0.716287	B;B	0.21688	0.012;0.059	B;B	0.25614	0.018;0.062	T	0.47100	-0.9143	10	0.87932	D	0	.	12.9366	0.58319	0.0:0.0:0.1354:0.8646	.	363;363	C9JFM0;P23471	.;PTPRZ_HUMAN	V	363	ENSP00000377047:F363V;ENSP00000410000:F363V	ENSP00000377047:F363V	F	+	1	0	PTPRZ1	121423830	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.553000	0.60753	0.963000	0.38082	0.533000	0.62120	TTT		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		31	139	0	0	0	1	0	31	139					G	121636594	T	G	121636594	3	3	163	1	0	0	0	0	1	0	0	0	12814	1493	52	5	1121	5	PTPRZ1	7	121636594	Missense_Mutation	SNP	T	TCGA-EL-A3CT-01A-12D-A202-08	71121885	121636594	37502069	34	2847											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	87	0	0	0	1	0	28	87					T	140453136	A	T	140453136	3	4	163	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	18816542	140453136	18685527	35	2848											
GIMAP4	55303	broad.mit.edu	37	7	150269372	150269372	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150269372C>T	ENST00000255945.2	+	3	389	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	72	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTGAGAAACGCAGCAGCTC	0.478																																						uc011kuv.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(256-258)Cgc>Tgc		Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.							106	92	97					7																	150269372		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269372C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.214C>T	7.37:g.150269372C>T	ENSP00000255945:p.Arg72Cys		Somatic				GIMAP4_uc011kuu.2_Intron|GIMAP4_uc003whl.3_Missense_Mutation_p.R72C	p.R86C	NM_018326	NP_060796	WXS	Illumina GAIIx	Phase_I	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	338	+			72						Missense_Mutation	SNP	ENST00000255945.2	37	c.256C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932607	0.52866	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.61742	0.08;0.08;0.08	4.61	-6.86	0.01676	AIG1 (1);	1.439610	0.04402	N	0.364450	T	0.45637	0.1352	N	0.26130	0.795	0.09310	N	1	D;D	0.61697	0.99;0.981	P;B	0.47744	0.556;0.252	T	0.55108	-0.8192	10	0.54805	T	0.06	.	7.5758	0.27935	0.2509:0.5048:0.2443:0.0	.	86;72	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	C	72;86;86	ENSP00000255945:R72C;ENSP00000419545:R86C;ENSP00000418615:R86C	ENSP00000255945:R72C	R	+	1	0	GIMAP4	149900305	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.798000	0.04565	-1.095000	0.03050	-0.165000	0.13383	CGC		0.478	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		9	53	0	0	0	1	0	9	53					T	150269372	C	T	150269372	3	4	163	1	0	0	0	0	1	0	0	0	6381	536	19	1	220	1	GIMAP4	7	150269372	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	9816236	150269372	8869291	36	2849											
CDK5	1020	broad.mit.edu	37	7	150753685	150753685	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr7:150753685G>A	ENST00000485972.1	-	5	975	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SLC4A2_ENST00000413384.2_5'Flank|CDK5_ENST00000297518.4_Silent_p.L98L|SLC4A2_ENST00000485713.1_5'Flank	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCTCAGGATCGAGGTCACCAT	0.517																																						uc003wir.2																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(292-294)ctC>ctT		Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.							75	75	75					7																	150753685		1922	4138	6060	SO:0001819	synonymous_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity	g.chr7:150753685G>A	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.294C>T	7.37:g.150753685G>A			Somatic				CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Silent_p.L98L|SLC4A2_uc022apz.1_5'Flank|SLC4A2_uc003wit.4_5'Flank	p.L98L	NM_004935	NP_004926	WXS	Illumina GAIIx	Phase_I	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	4	411	-		Breast(660;0.159)|Ovarian(593;0.182)	98			Protein kinase.		A1XKG3	Silent	SNP	ENST00000485972.1	37	c.294C>T	CCDS47748.1																																																																																				0.517	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			13	27	0	0	0	1	0	13	27					A	150753685	G	A	150753685	2	1	163	1	0	0	0	0	0	0	0	1	3142	1045	37	1		1	CDK5	7	150753685	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	484313	150753685	8384978	37	2850											
EPB49	2039	broad.mit.edu	37	8	21926531	21926531	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:21926531C>T	ENST00000523266.1	+	5	716	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Missense_Mutation_p.S85L|DMTN_ENST00000443491.2_Missense_Mutation_p.S60L|DMTN_ENST00000358242.3_Missense_Mutation_p.S85L|DMTN_ENST00000265800.5_Missense_Mutation_p.S85L|DMTN_ENST00000432128.1_Missense_Mutation_p.S85L|DMTN_ENST00000415253.1_Missense_Mutation_p.S85L|DMTN_ENST00000523782.2_Missense_Mutation_p.S60L|DMTN_ENST00000519907.1_Missense_Mutation_p.S85L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	85					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TCACAGCGCTCGCTGTCACCC	0.617																																						uc022asw.1																			0		p.S85S(1)		central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10						c.(253-255)tCg>tTg		Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.							139	122	128					8																	21926531		2203	4300	6503	SO:0001583	missense	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21926531C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.254C>T	8.37:g.21926531C>T	ENSP00000427866:p.Ser85Leu		Somatic				EPB49_uc022asq.1_Missense_Mutation_p.S85L|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Missense_Mutation_p.S85L|EPB49_uc022ass.1_Missense_Mutation_p.S60L|EPB49_uc022ast.1_Missense_Mutation_p.S85L|EPB49_uc022asu.1_Missense_Mutation_p.S85L|EPB49_uc022asv.1_Missense_Mutation_p.S85L|EPB49_uc022asx.1_Missense_Mutation_p.S85L|EPB49_uc022asy.1_Missense_Mutation_p.S60L	p.S85L	NM_001978	NP_001969	WXS	Illumina GAIIx	Phase_I	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	3	292	+			85					A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.254C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526367	0.64860	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.49;1.26;1.26;1.26;1.26;1.49;1.49;1.49;1.26;1.49;1.26;1.26;1.26;1.26	4.72	4.72	0.59763	.	0.256767	0.32802	N	0.005625	T	0.53997	0.1831	L	0.49778	1.585	0.58432	D	0.999996	B;B;B;B;D	0.71674	0.255;0.066;0.046;0.445;0.998	B;B;B;B;D	0.75484	0.024;0.006;0.008;0.03;0.986	T	0.56685	-0.7938	10	0.87932	D	0	.	15.2389	0.73452	0.0:1.0:0.0:0.0	.	24;85;60;60;85	E9PD40;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;DEMA_HUMAN;.;.;.	L	60;60;85;85;85;60;60;60;85;85;24;85;85;85;85;85	ENSP00000428063:S60L;ENSP00000429116:S60L;ENSP00000430600:S85L;ENSP00000370879:S85L;ENSP00000416111:S85L;ENSP00000397904:S60L;ENSP00000428733:S60L;ENSP00000430382:S60L;ENSP00000428415:S85L;ENSP00000265800:S85L;ENSP00000429948:S85L;ENSP00000350977:S85L;ENSP00000401291:S85L;ENSP00000427866:S85L;ENSP00000429377:S85L	ENSP00000265800:S85L	S	+	2	0	EPB49	21982477	1.000000	0.71417	0.956000	0.39512	0.969000	0.65631	5.916000	0.69981	2.461000	0.83175	0.655000	0.94253	TCG		0.617	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		37	120	0	0	0	1	0	37	120					T	21926531	C	T	21926531	3	4	163	1	0	0	0	0	1	0	0	0	5159	893	31	1	268	1	EPB49	8	21926531	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		21926531	124437491	38	2851											
POLB	5423	broad.mit.edu	37	8	42196191	42196191	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr8:42196191G>A	ENST00000265421.4	+	1	219	c.49G>A	c.(49-51)Gac>Aac	p.D17N	POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	17					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	GGGAATCACCGACATGCTCAC	0.622								DNA polymerases (catalytic subunits)																														uc003xoz.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(49-51)Gac>Aac	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	Cytarabine(DB00987)						68	77	74					8																	42196191		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42196191G>A		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.49G>A	8.37:g.42196191G>A	ENSP00000265421:p.Asp17Asn		Somatic				POLB_uc011lcs.2_5'UTR	p.D17N	NM_002690	NP_002681	WXS	Illumina GAIIx	Phase_I	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		0	219	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	17					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.49G>A	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458277	0.84317	.	.	ENSG00000070501	ENST00000265421;ENST00000518925	T;T	0.46063	0.88;0.88	4.53	3.65	0.41850	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	M	0.75447	2.3	0.80722	D	1	D;D	0.57571	0.972;0.98	B;B	0.41619	0.298;0.361	T	0.48364	-0.9042	10	0.87932	D	0	-0.5011	8.7892	0.34841	0.1043:0.0:0.8957:0.0	.	17;17	Q53EV2;P06746	.;DPOLB_HUMAN	N	17	ENSP00000265421:D17N;ENSP00000430784:D17N	ENSP00000265421:D17N	D	+	1	0	POLB	42315348	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.324000	0.72896	1.264000	0.44198	0.460000	0.39030	GAC		0.622	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		11	128	0	0	0	1	0	11	128					A	42196191	G	A	42196191	3	1	163	1	0	0	0	0	1	0	0	0	12189	1058	37	1	51	1	POLB	8	42196191	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	20269660	42196191	104167831	39	2852											
KCNV2	169522	broad.mit.edu	37	9	2718867	2718867	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:2718867G>A	ENST00000382082.3	+	1	1366	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	376					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTCAGGTGTTGCGCGTCATGC	0.667																																						uc003zho.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1126-1128)ttG>ttA		Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.							97	77	84					9																	2718867		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718867G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1128G>A	9.37:g.2718867G>A			Somatic					p.L376L	NM_133497	NP_598004	WXS	Illumina GAIIx	Phase_I	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	0	1342	+			376					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.1128G>A	CCDS6447.1																																																																																				0.667	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		41	63	0	0	0	1	0	41	63					A	2718867	G	A	2718867	2	1	163	1	0	0	0	0	0	0	0	1	8095	1310	46	2		2	KCNV2	9	2718867	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2718867	138494564	40	2853											
KIAA1432	57589	broad.mit.edu	37	9	5757374	5757374	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:5757374C>T	ENST00000414202.2	+	17	2106	c.1915C>T	c.(1915-1917)Cac>Tac	p.H639Y	KIAA1432_ENST00000449720.2_Missense_Mutation_p.H523Y|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H560Y|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H560Y|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H639Y	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTACATTCCTCACCCTTTCCT	0.428																																						uc003zjl.4																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1804-1806)Cac>Tac		Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.							293	263	273					9																	5757374		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5757374C>T																												ENST00000414202.2:c.1915C>T	9.37:g.5757374C>T	ENSP00000416696:p.His639Tyr		Somatic				KIAA1432_uc003zjh.3_Missense_Mutation_p.H560Y|KIAA1432_uc003zji.3_Missense_Mutation_p.H560Y|KIAA1432_uc003zjj.1_Missense_Mutation_p.H102Y	p.H602Y	NM_001206557	NP_001193486	WXS	Illumina GAIIx	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	15	1995	+		Acute lymphoblastic leukemia(23;0.154)	639						Missense_Mutation	SNP	ENST00000414202.2	37	c.1804C>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.827402|3.827402	0.71143|0.71143	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72061|0.72061	0.3414|0.3414	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.46784|.	0.615;0.816;0.849;0.884|.	B;B;B;B|.	0.43155|.	0.1;0.232;0.296;0.41|.	T|T	0.65825|0.65825	-0.6074|-0.6074	9|5	0.18710|.	T|.	0.47|.	-18.035|-18.035	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	523;560;639;639|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	Y|L	639;639;560;560;523|530	.|.	ENSP00000251879:H639Y|.	H|S	+|+	1|2	0|0	KIAA1432|KIAA1432	5747374|5747374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.420000|7.420000	0.80191|0.80191	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.428	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			27	201	0	0	0	1	0	27	201					T	5757374	C	T	5757374	3	4	163	1	0	0	0	0	1	0	0	0	8233	826	29	2	1740	2	KIAA1432	9	5757374	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	3038507	5757374	135456057	41	2854											
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:98239123G>A	ENST00000331920.6	-	11	1819	c.1520C>T	c.(1519-1521)gCt>gTt	p.A507V	PTCH1_ENST00000429896.2_Missense_Mutation_p.A356V|PTCH1_ENST00000430669.2_Missense_Mutation_p.A441V|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356V|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506V|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441V|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356V	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	507	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428																																						uc004avk.4																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1519-1521)gCt>gTt		Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.							143	111	121					9																	98239123		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239123G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1520C>T	9.37:g.98239123G>A	ENSP00000332353:p.Ala507Val		Somatic				PTCH1_uc010mro.3_Missense_Mutation_p.A356V|PTCH1_uc010mrp.3_Missense_Mutation_p.A356V|PTCH1_uc010mrq.3_Missense_Mutation_p.A356V|PTCH1_uc004avl.4_Missense_Mutation_p.A356V|PTCH1_uc004avm.4_Missense_Mutation_p.A506V|PTCH1_uc010mrr.3_Missense_Mutation_p.A441V|PTCH1_uc010mrs.1_Missense_Mutation_p.A175V	p.A507V	NM_000264	NP_001077076	WXS	Illumina GAIIx	Phase_I	Q13635	PTC1_HUMAN			10	1708	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	507			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1520C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427169	0.83667	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.54	4.64	0.57946	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	L	0.37561	1.115	0.80722	D	1	D;D;D;D	0.65815	0.995;0.992;0.995;0.994	D;D;D;D	0.74674	0.984;0.959;0.983;0.954	D	0.90037	0.4139	10	0.02654	T	1	-17.953	16.6136	0.84901	0.0:0.13:0.87:0.0	.	356;441;506;507	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	V	507;441;356;356;441;356;506;172	ENSP00000332353:A507V;ENSP00000389744:A441V;ENSP00000399981:A356V;ENSP00000396135:A356V;ENSP00000410287:A441V;ENSP00000414823:A356V;ENSP00000364423:A506V;ENSP00000364420:A172V	ENSP00000332353:A507V	A	-	2	0	PTCH1	97278944	1.000000	0.71417	0.946000	0.38457	0.550000	0.35303	9.263000	0.95617	1.562000	0.49601	0.655000	0.94253	GCT		0.428	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		9	33	0	0	0	1	0	9	33					A	98239123	G	A	98239123	3	1	163	1	0	0	0	0	1	0	0	0	12730	971	34	2	2875	2	PTCH1	9	98239123	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	92481749	98239123	42974308	42	2855											
GLT6D1	360203	broad.mit.edu	37	9	138516117	138516117	+	Silent	SNP	C	C	T	rs201383603		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr9:138516117C>T	ENST00000371763.1	-	5	910	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344). {ECO:0000269|PubMed:19218399}.		carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493													C|||	1	0.000199681	0	0.0014	5008	,	,		20088	0		0	False		,,,				2504	0					uc010nbd.1																			1	Substitution - coding silent(1)	p.P219P(2)	endometrium(1)	endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(655-657)ccG>ccA		Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.							105	104	104					9																	138516117		1915	4127	6042	SO:0001819	synonymous_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516117C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.657G>A	9.37:g.138516117C>T			Somatic					p.P219P	NM_182974	NP_892019	WXS	Illumina GAIIx	Phase_I	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	4	911	-		Myeloproliferative disorder(178;0.0821)	219		P -> S (in dbSNP:rs17040344).				Silent	SNP	ENST00000371763.1	37	c.657G>A	CCDS43900.1																																																																																				0.493	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		5	135	0	0	0	1	0	5	135					T	138516117	C	T	138516117	2	4	163	1	0	0	0	0	0	0	0	1	6468	523	19	1		1	GLT6D1	9	138516117	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	40276994	138516117	2697314	43	2856											
BICC1	80114	broad.mit.edu	37	10	60573609	60573609	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:60573609C>T	ENST00000373886.3	+	18	2400	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L	BICC1_ENST00000263103.1_Missense_Mutation_p.S425L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	799					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						ATGTCCCTTTCACGGTCCAAC	0.458																																						uc001jki.1																			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.(2395-2397)tCa>tTa		Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.							145	135	139					10																	60573609		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60573609C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2396C>T	10.37:g.60573609C>T	ENSP00000362993:p.Ser799Leu		Somatic				BICC1_uc001jkj.1_Missense_Mutation_p.S440L	p.S799L	NM_001080512	NP_001073981	WXS	Illumina GAIIx	Phase_I	Q9H694	BICC1_HUMAN			17	2396	+			799						Missense_Mutation	SNP	ENST00000373886.3	37	c.2396C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926163	0.92319	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.53640	1.61;0.61	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.977	T	0.67452	-0.5667	10	0.62326	D	0.03	-11.9317	18.4528	0.90710	0.0:1.0:0.0:0.0	.	719;799	E7EU62;Q9H694	.;BICC1_HUMAN	L	799;425	ENSP00000362993:S799L;ENSP00000263103:S425L	ENSP00000263103:S425L	S	+	2	0	BICC1	60243615	1.000000	0.71417	0.877000	0.34402	0.772000	0.43724	7.362000	0.79507	2.793000	0.96121	0.563000	0.77884	TCA		0.458	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		40	116	0	0	0	1	0	40	116					T	60573609	C	T	60573609	3	4	163	1	0	0	0	0	1	0	0	0	1427	838	29	2	2466	2	BICC1	10	60573609	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		60573609	74961138	44	2857											
CCDC6	8030	broad.mit.edu	37	10	61666113	61666113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:61666113G>A	ENST00000263102.6	-	1	301	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	24						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGGACGACTGCATGGCGGCC	0.751			T	RET	NSCLC																																	uc001jks.4				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(70-72)Cag>Tag		Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.							8	12	11					10																	61666113		1844	3752	5596	SO:0001587	stop_gained	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666113G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.70C>T	10.37:g.61666113G>A	ENSP00000263102:p.Gln24*		Somatic					p.Q24*	NM_005436	NP_005427	WXS	Illumina GAIIx	Phase_I	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	0	302	-			24					Q15250|Q6GSG7	Nonsense_Mutation	SNP	ENST00000263102.6	37	c.70C>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	39	7.872556	0.98537	.	.	ENSG00000108091	ENST00000263102	.	.	.	4.31	4.31	0.51392	.	0.496053	0.19725	N	0.107488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-15.0086	14.6998	0.69147	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000263102:Q24X	Q	-	1	0	CCDC6	61336119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.353000	0.44089	2.397000	0.81536	0.655000	0.94253	CAG		0.751	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		16	25	0	0	0	1	0	16	25					A	61666113	G	A	61666113	4	1	163	1	0	0	0	0	0	1	0	0	2830	1328	46	2	1390	2	CCDC6	10	61666113	Nonsense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1092504	61666113	73868634	45	2858											
GPR123	84435	broad.mit.edu	37	10	134910590	134910590	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr10:134910590A>C	ENST00000392607.3	+	3	552	c.116A>C	c.(115-117)tAc>tCc	p.Y39S	GPR123_ENST00000607359.1_Missense_Mutation_p.Y759S	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	39					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTCGTCACCTACATCGTGCAC	0.632																																						uc001llw.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2275-2277)tAc>tCc		Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.							120	98	106					10																	134910590		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134910590A>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.116A>C	10.37:g.134910590A>C	ENSP00000376384:p.Tyr39Ser		Somatic				GPR123_uc001llx.4_Missense_Mutation_p.Y39S	p.Y759S			WXS	Illumina GAIIx	Phase_I	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	11	2276	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	39					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2276A>C	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920030	0.52653	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.37915	1.17	3.85	3.85	0.44370	GPCR, family 2-like (1);	0.268160	0.25801	N	0.028216	T	0.60676	0.2287	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.74674	0.973;0.984	T	0.66228	-0.5976	10	0.66056	D	0.02	-38.623	10.9105	0.47106	1.0:0.0:0.0:0.0	.	39;759	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	S	759;759;39	ENSP00000376384:Y39S	ENSP00000357566:Y759S	Y	+	2	0	GPR123	134760580	1.000000	0.71417	0.525000	0.27900	0.350000	0.29205	8.369000	0.90118	1.542000	0.49330	0.358000	0.22013	TAC		0.632	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			8	88	0	0	0	1	0	8	88					C	134910590	A	C	134910590	3	2	163	1	0	0	0	0	1	0	0	0	6637	391	14	5	122	5	GPR123	10	134910590	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	73244477	134910590	624157	46	2859											
KRTAP5-5	439915	broad.mit.edu	37	11	1651522	1651522	+	Missense_Mutation	SNP	C	C	T	rs201208697		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:1651522C>T	ENST00000399676.2	+	1	490	c.452C>T	c.(451-453)tCt>tTt	p.S151F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	151	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGTTCTTATGGCTGC	0.667																																						uc001lty.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(451-453)tCt>tTt		Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.							45	60	55					11																	1651522		2162	4232	6394	SO:0001583	missense	439915					keratin filament		g.chr11:1651522C>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.452C>T	11.37:g.1651522C>T	ENSP00000382584:p.Ser151Phe		Somatic				MOB2_uc001ltq.2_Intron	p.S151F	NM_001001480	NP_001001480	WXS	Illumina GAIIx	Phase_I	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	0	490	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	151			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.452C>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	c	0.995	-0.692829	0.03303	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01172	5.23	2.28	2.28	0.28536	.	.	.	.	.	T	0.02418	0.0074	M	0.81497	2.545	0.09310	N	1	B	0.21905	0.062	B	0.14578	0.011	T	0.18335	-1.0340	9	0.56958	D	0.05	.	10.6307	0.45534	0.0:1.0:0.0:0.0	.	151	Q701N2	KRA55_HUMAN	F	151;122	ENSP00000382584:S151F	ENSP00000382584:S151F	S	+	2	0	KRTAP5-5	1608098	0.065000	0.20965	0.021000	0.16686	0.016000	0.09150	-0.229000	0.09098	1.584000	0.49913	0.484000	0.47621	TCT		0.667	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			11	179	0	0	0	1	0	11	179					T	1651522	C	T	1651522	3	4	163	1	0	0	0	0	1	0	0	0	8564	913	32	2	454	2	KRTAP5-5	11	1651522	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		1651522	133354994	47	2860											
ARFIP2	23647	broad.mit.edu	37	11	6500468	6500468	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:6500468G>A	ENST00000254584.2	-	4	300	c.217C>T	c.(217-219)Cac>Tac	p.H73Y	TIMM10B_ENST00000530751.1_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.H73Y|ARFIP2_ENST00000445086.2_Intron|TIMM10B_ENST00000254616.6_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000525235.1_Missense_Mutation_p.H73Y|ARFIP2_ENST00000423813.2_Missense_Mutation_p.H35Y	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	73					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGGTGCTGTGAGATGGATGG	0.532																																					Melanoma(119;796 1674 9049 20480 24794)	uc010ran.2																			0		p.K105*(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(316-318)Cac>Tac		Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 1, mRNA.							92	85	88					11																	6500468		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500468G>A	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.217C>T	11.37:g.6500468G>A	ENSP00000254584:p.His73Tyr		Somatic				ARFIP2_uc001mdk.3_Missense_Mutation_p.H73Y|ARFIP2_uc010ral.2_Missense_Mutation_p.H35Y|ARFIP2_uc010ram.2_Intron|ARFIP2_uc009yfe.2_3'UTR|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank	p.H106Y	NM_001242854	NP_001229783	WXS	Illumina GAIIx	Phase_I	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	607	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	73					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.316C>T	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302234	0.60195	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000423813;ENST00000525235	T;T;T	0.76709	-1.03;-1.03;-1.04	5.49	5.49	0.81192	.	0.235853	0.50627	D	0.000117	T	0.63426	0.2510	L	0.29908	0.895	0.80722	D	1	P;P	0.47302	0.893;0.75	B;B	0.37144	0.242;0.129	T	0.66630	-0.5875	10	0.02654	T	1	.	18.9547	0.92654	0.0:0.0:1.0:0.0	.	106;73	B4DUZ3;P53365	.;ARFP2_HUMAN	Y	73;73;35;73	ENSP00000254584:H73Y;ENSP00000379998:H73Y;ENSP00000398375:H35Y	ENSP00000254584:H73Y	H	-	1	0	ARFIP2	6457044	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.056000	0.49923	2.588000	0.87417	0.484000	0.47621	CAC		0.532	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		22	113	0	0	0	1	0	22	113					A	6500468	G	A	6500468	3	1	163	1	0	0	0	0	1	0	0	0	855	1290	45	2	828	2	ARFIP2	11	6500468	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	4848946	6500468	128506048	48	2861											
C11orf74	119710	broad.mit.edu	37	11	36631730	36631730	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:36631730A>G	ENST00000334307.5	+	2	192	c.77A>G	c.(76-78)aAt>aGt	p.N26S	C11orf74_ENST00000446510.2_Missense_Mutation_p.N26S|C11orf74_ENST00000534635.1_Missense_Mutation_p.N26S|C11orf74_ENST00000347206.4_Missense_Mutation_p.N26S	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	26										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAATTCCTTAATTGTCATGAG	0.348																																						uc001mwy.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)	8						c.(76-78)aAt>aGt		Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.							89	89	89					11																	36631730		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36631730A>G	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.77A>G	11.37:g.36631730A>G	ENSP00000334848:p.Asn26Ser		Somatic				C11orf74_uc001mwx.1_Non-coding_Transcript|C11orf74_uc001mwz.1_Missense_Mutation_p.N26S|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	p.N26S	NM_138787	NP_620142	WXS	Illumina GAIIx	Phase_I	Q86VG3	CK074_HUMAN			1	150	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	26					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.77A>G	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250397	0.39797	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000530697;ENST00000527108;ENST00000532470	.	.	.	6.17	3.86	0.44501	.	0.405345	0.25827	N	0.028045	T	0.40119	0.1104	L	0.55481	1.735	0.32568	N	0.530204	B;P	0.35793	0.275;0.521	B;B	0.34652	0.067;0.187	T	0.49418	-0.8942	9	0.34782	T	0.22	-22.9604	8.8349	0.35107	0.8544:0.0:0.1456:0.0	.	26;26	Q86VG3;Q86VG3-2	CK074_HUMAN;.	S	26	.	ENSP00000334848:N26S	N	+	2	0	C11orf74	36588306	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	2.861000	0.48380	0.563000	0.29222	0.533000	0.62120	AAT		0.348	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		14	62	0	0	0	1	0	14	62					G	36631730	A	G	36631730	3	3	163	1	0	0	0	0	1	0	0	0	1662	101	4	3	79	3	C11orf74	11	36631730	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	30131262	36631730	98374786	49	2862											
OR8H2	390151	broad.mit.edu	37	11	55872901	55872901	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:55872901G>C	ENST00000313503.1	+	1	383	c.383G>C	c.(382-384)aGt>aCt	p.S128T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCGATCTGCAGTCCTCTACAC	0.478										HNSCC(53;0.14)																												uc010riy.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(382-384)aGt>aCt		Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.							195	185	189					11																	55872901		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872901G>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.383G>C	11.37:g.55872901G>C	ENSP00000323982:p.Ser128Thr	HNSCC(53;0.14)	Somatic					p.S128T	NM_001005200	NP_001005200	WXS	Illumina GAIIx	Phase_I	Q8N162	OR8H2_HUMAN			0	383	+	Esophageal squamous(21;0.00693)		128					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.383G>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	2.155	-0.393640	0.04899	.	.	ENSG00000181767	ENST00000313503	T	0.01347	4.99	3.35	-0.769	0.11009	GPCR, rhodopsin-like superfamily (1);	0.726516	0.12860	N	0.433166	T	0.01661	0.0053	L	0.49126	1.545	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.40590	-0.9555	10	0.62326	D	0.03	.	5.7586	0.18186	0.5031:0.1387:0.3582:0.0	.	128	Q8N162	OR8H2_HUMAN	T	128	ENSP00000323982:S128T	ENSP00000323982:S128T	S	+	2	0	OR8H2	55629477	0.000000	0.05858	0.012000	0.15200	0.019000	0.09904	-0.018000	0.12568	-0.271000	0.09272	-0.423000	0.05987	AGT		0.478	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		68	234	0	0	0	1	0	68	234					C	55872901	G	C	55872901	3	2	163	1	0	0	0	0	1	0	0	0	11238	1029	36	4	385	4	OR8H2	11	55872901	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	19241171	55872901	79133615	50	2863											
AHNAK	79026	broad.mit.edu	37	11	62299935	62299935	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62299935G>A	ENST00000378024.4	-	5	2228	c.1954C>T	c.(1954-1956)Cta>Tta	p.L652L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	652					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTGGGTAGAGTCATATGA	0.512																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1954-1956)Cta>Tta		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							128	126	127					11																	62299935		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299935G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1954C>T	11.37:g.62299935G>A			Somatic				AHNAK_uc001ntk.1_Intron	p.L652L	NM_001620	NP_001611	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			4	2254	-		Melanoma(852;0.155)	652					A1A586	Silent	SNP	ENST00000378024.4	37	c.1954C>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		38	135	0	0	0	1	0	38	135					A	62299935	G	A	62299935	2	1	163	1	0	0	0	0	0	0	0	1	414	933	33	2		2	AHNAK	11	62299935	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	6427034	62299935	72706581	51	2864											
HNRNPUL2	221092	broad.mit.edu	37	11	62494265	62494265	+	Missense_Mutation	SNP	C	C	T	rs372276805		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:62494265C>T	ENST00000301785.5	-	1	556	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	TTC9C_ENST00000513247.2_5'Flank|TTC9C_ENST00000532583.1_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.A122T|TTC9C_ENST00000316461.4_5'Flank	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	122	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTCGGCCGCGGCCTCCATG	0.721													C|||	1	0.000199681	8e-04	0	5008	,	,		10795	0		0	False		,,,				2504	0					uc001nuw.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(364-366)Gcg>Acg		Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.		C	THR/ALA	1,3511		0,1,1755	11	13	12		364	1.8	0.1	11		12	0,7868		0,0,3934	no	missense	HNRNPUL2	NM_001079559.2	58	0,1,5689	TT,TC,CC		0.0,0.0285,0.0088	benign	122/748	62494265	1,11379	1756	3934	5690	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62494265C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.364G>A	11.37:g.62494265C>T	ENSP00000301785:p.Ala122Thr		Somatic				HNRNPUL2_uc001nuu.2_Non-coding_Transcript|TTC9C_uc001nux.3_5'Flank|TTC9C_uc001nuy.3_5'Flank	p.A122T	NM_001079559	NP_001073027	WXS	Illumina GAIIx	Phase_I	Q1KMD3	HNRL2_HUMAN			0	593	-			122			Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.364G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	4.831	0.154454	0.09236	2.85E-4	0.0	ENSG00000214753	ENST00000301785	T	0.44482	0.92	3.79	1.84	0.25277	.	0.980375	0.08280	U	0.970027	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	10	0.20046	T	0.44	.	6.5922	0.22654	0.1783:0.7195:0.0:0.1022	.	122	Q1KMD3	HNRL2_HUMAN	T	122	ENSP00000301785:A122T	ENSP00000301785:A122T	A	-	1	0	HNRNPUL2	62250841	0.958000	0.32768	0.076000	0.20297	0.143000	0.21401	0.994000	0.29693	0.350000	0.24002	-0.521000	0.04368	GCG		0.721	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		20	39	0	0	0	1	0	20	39					T	62494265	C	T	62494265	3	4	163	1	0	0	0	0	1	0	0	0	7275	768	27	1	1935	1	HNRNPUL2	11	62494265	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	194330	62494265	72512251	52	2865											
DPP3	10072	broad.mit.edu	37	11	66263137	66263137	+	Silent	SNP	G	G	A	rs113357584	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:66263137G>A	ENST00000360510.2	+	15	1679	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	DPP3_ENST00000453114.1_Silent_p.V538V|DPP3_ENST00000530165.1_Silent_p.V508V|DPP3_ENST00000531863.1_Silent_p.V558V|DPP3_ENST00000541961.1_Silent_p.V538V|DPP3_ENST00000532677.1_Silent_p.V557V			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	538					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CGGAGGACGTGATCTACGTGA	0.617																																						uc001oig.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1612-1614)gtG>gtA		Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.							87	80	82					11																	66263137		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66263137G>A	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1614G>A	11.37:g.66263137G>A			Somatic				DPP3_uc001oif.1_Silent_p.V538V|DPP3_uc010rpe.1_Silent_p.V527V|BBS1_uc001oih.1_5'Flank	p.V538V	NM_005700	NP_569710	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			14	1676	+			538					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1614G>A	CCDS8141.1																																																																																				0.617	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			12	60	0	0	0	1	0	12	60					A	66263137	G	A	66263137	2	1	163	1	0	0	0	0	0	0	0	1	4728	1277	45	2		2	DPP3	11	66263137	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	3768872	66263137	68743379	53	2866											
EED	8726	broad.mit.edu	37	11	85956375	85956375	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr11:85956375G>A	ENST00000263360.6	+	1	790	c.104G>A	c.(103-105)gGa>gAa	p.G35E	EED_ENST00000327320.4_Missense_Mutation_p.G35E|EED_ENST00000528180.1_Missense_Mutation_p.G35E|EED_ENST00000351625.6_Missense_Mutation_p.G35E	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	35					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GACCTCTCTGGAGACGAGAAT	0.562																																						uc001pbr.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(103-105)gGa>gAa		Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.							55	45	48					11																	85956375		2203	4299	6502	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85956375G>A	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.104G>A	11.37:g.85956375G>A	ENSP00000263360:p.Gly35Glu		Somatic				EED_uc010rtm.2_Missense_Mutation_p.G35E|EED_uc001pbp.3_Missense_Mutation_p.G35E|EED_uc001pbq.3_Missense_Mutation_p.G35E	p.G35E	NM_003797	NP_003788	WXS	Illumina GAIIx	Phase_I	O75530	EED_HUMAN			0	570	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	35					A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.104G>A	CCDS8273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.949040|3.949040	0.73787|0.73787	.|.	.|.	ENSG00000074266|ENSG00000074266	ENST00000534595|ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	.|T;T;T;T	.|0.79940	.|-0.82;-1.32;-0.73;-0.75	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80417|0.80417	0.4619|0.4619	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	.|B;D;B;B	.|0.89917	.|0.02;1.0;0.2;0.012	.|B;D;B;B	.|0.83275	.|0.013;0.996;0.034;0.006	T|T	0.79967|0.79967	-0.1580|-0.1580	5|9	.|.	.|.	.|.	-10.1422|-10.1422	18.2509|18.2509	0.90002|0.90002	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|35;35;35;35	.|O75530-3;E9PJK2;O75530-2;O75530	.|.;.;.;EED_HUMAN	K|E	34|35	.|ENSP00000263360:G35E;ENSP00000431778:G35E;ENSP00000338186:G35E;ENSP00000315587:G35E	.|.	E|G	+|+	1|2	0|0	EED|EED	85634023|85634023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.830000|8.830000	0.92063|0.92063	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.562	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		16	35	0	0	0	1	0	16	35					A	85956375	G	A	85956375	3	1	163	1	0	0	0	0	1	0	0	0	4922	1174	41	2	106	2	EED	11	85956375	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	19693238	85956375	49050141	54	2867											
KIAA1467	57613	broad.mit.edu	37	12	13224331	13224331	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:13224331G>A	ENST00000197268.8	+	10	1644		c.e10+1			NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCCAATTCCGTGAGTGAGCC	0.517																																						uc001rbi.3																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.e10+1		Homo sapiens KIAA1467 (KIAA1467), mRNA.							70	68	68					12																	13224331		2203	4300	6503	SO:0001630	splice_region_variant	57613					integral to membrane		g.chr12:13224331G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1524+1G>A	12.37:g.13224331G>A			Somatic				KIAA1467_uc021qvn.1_Splice_Site	p.S508_splice	NM_020853	NP_065904	WXS	Illumina GAIIx	Phase_I	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	10	1547	+		Prostate(47;0.184)	508					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Splice_Site	SNP	ENST00000197268.8	37	c.1524_splice	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	g	14.68	2.608146	0.46527	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4621	0.84064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1467	13115598	1.000000	0.71417	0.952000	0.39060	0.390000	0.30446	6.119000	0.71590	2.553000	0.86117	0.558000	0.71614	.		0.517	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	Intron	22	57	0	0	0	1	0	22	57					A	13224331	G	A	13224331	5	1	163	1	0	0	0	0	0	0	1	0	8235	1159	40	1	1563	1	KIAA1467	12	13224331	Splice_Site	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		13224331	120627564	55	2868											
KRT18	3875	broad.mit.edu	37	12	53346038	53346038	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:53346038G>A	ENST00000388835.3	+	6	1294	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000550600.1_Missense_Mutation_p.E362K|KRT18_ENST00000388837.2_Missense_Mutation_p.E362K|KRT8_ENST00000552551.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	362	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCAGGCCCAGGAGTATGAGGC	0.627																																						uc001sbe.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(1084-1086)Gag>Aag		Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.							15	17	16					12																	53346038		2201	4297	6498	SO:0001583	missense	3875				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53346038G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1084G>A	12.37:g.53346038G>A	ENSP00000373487:p.Glu362Lys		Somatic				KRT18_uc009zmn.2_Missense_Mutation_p.E362K|KRT18_uc001sbg.3_Missense_Mutation_p.E362K|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.E362K	NM_199187	NP_954657	WXS	Illumina GAIIx	Phase_I	P05783	K1C18_HUMAN			6	1153	+			362			Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.1084G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.266997	0.80469	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.93712	-3.27;-3.27;-3.27	4.0	4.0	0.46444	Filament (1);	0.000000	0.56097	D	0.000030	D	0.95118	0.8418	M	0.93016	3.37	0.80722	D	1	B;P	0.35944	0.245;0.529	B;B	0.40477	0.222;0.33	D	0.96150	0.9107	10	0.72032	D	0.01	.	14.3934	0.66996	0.0:0.0:1.0:0.0	.	362;362	F8VZY9;P05783	.;K1C18_HUMAN	K	362	ENSP00000373489:E362K;ENSP00000447278:E362K;ENSP00000373487:E362K	ENSP00000373487:E362K	E	+	1	0	KRT18	51632305	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.689000	0.84165	2.535000	0.85469	0.561000	0.74099	GAG		0.627	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		4	12	0	0	0	1	0	4	12					A	53346038	G	A	53346038	3	1	163	1	0	0	0	0	1	0	0	0	8455	1175	41	2	1106	2	KRT18	12	53346038	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	40121707	53346038	80505857	56	2869											
ERBB3	2065	broad.mit.edu	37	12	56490857	56490857	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:56490857A>G	ENST00000267101.3	+	20	2743	c.2303A>G	c.(2302-2304)cAt>cGt	p.H768R	ERBB3_ENST00000553131.1_Missense_Mutation_p.H9R|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.H709R|ERBB3_ENST00000450146.2_Missense_Mutation_p.H125R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGCCTGGACCATGCCCACATT	0.502																																						uc001sjh.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2302-2304)cAt>cGt		Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.							103	84	91					12																	56490857		2203	4300	6503	SO:0001583	missense	2065				Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490857A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2303A>G	12.37:g.56490857A>G	ENSP00000267101:p.His768Arg		Somatic				ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Missense_Mutation_p.H125R|ERBB3_uc010sqc.2_Missense_Mutation_p.H709R|ERBB3_uc009zok.3_Intron|ERBB3_uc001sjk.3_Missense_Mutation_p.H9R	p.H768R	NM_001982	NP_001973	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		19	2579	+			768			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2303A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579004	0.86645	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88683	0.6503	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91898	0.5529	10	0.87932	D	0	.	15.0473	0.71838	1.0:0.0:0.0:0.0	.	768	P21860	ERBB3_HUMAN	R	768;125;709;9	ENSP00000267101:H768R;ENSP00000399178:H125R;ENSP00000408340:H709R;ENSP00000449129:H9R	ENSP00000267101:H768R	H	+	2	0	ERBB3	54777124	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.014000	0.93635	2.254000	0.74563	0.459000	0.35465	CAT		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			16	98	0	0	0	1	0	16	98					G	56490857	A	G	56490857	3	3	163	1	0	0	0	0	1	0	0	0	5208	217	8	3	2512	3	ERBB3	12	56490857	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	3144819	56490857	77361038	57	2870											
DUSP6	1848	broad.mit.edu	37	12	89745586	89745586	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr12:89745586G>A	ENST00000279488.7	-	1	1462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000308385.6_Silent_p.F77F	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	77	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.		F -> I (in HH19). {ECO:0000269|PubMed:23643382}.		cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGCCGCGCGTGAAGAGCGCGC	0.662																																					Colon(132;3456 5224)	uc001tay.3																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(229-231)ttC>ttT		Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.							14	14	14					12																	89745586		2180	4272	6452	SO:0001819	synonymous_variant	1848				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745586G>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.231C>T	12.37:g.89745586G>A			Somatic				DUSP6_uc001taz.3_Silent_p.F77F	p.F77F	NM_001946	NP_001937	WXS	Illumina GAIIx	Phase_I	Q16828	DUS6_HUMAN			0	711	-			77			Rhodanese.		O75109|Q53Y75|Q9BSH6	Silent	SNP	ENST00000279488.7	37	c.231C>T	CCDS9033.1																																																																																				0.662	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		5	22	0	0	0	1	0	5	22					A	89745586	G	A	89745586	2	1	163	1	0	0	0	0	0	0	0	1	4829	1281	45	2		2	DUSP6	12	89745586	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	33254729	89745586	44106309	58	2871											
ATP12A	479	broad.mit.edu	37	13	25262595	25262595	+	Missense_Mutation	SNP	G	G	A	rs149324896		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:25262595G>A	ENST00000381946.3	+	4	534	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ATP12A_ENST00000218548.6_Missense_Mutation_p.A123T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	123					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GTGGGTGGGCGCCTTTCTCTG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	uc010aaa.3																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(367-369)Gcc>Acc		Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	Esomeprazole(DB00736)|Pantoprazole(DB00213)	G	THR/ALA,THR/ALA	0,4406		0,0,2203	228	233	232		367,367	5.1	0.1	13	dbSNP_134	232	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP12A	NM_001185085.1,NM_001676.5	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	123/1046,123/1040	25262595	1,13005	2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262595G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.367G>A	13.37:g.25262595G>A	ENSP00000371372:p.Ala123Thr		Somatic				ATP12A_uc001upp.3_Missense_Mutation_p.A123T	p.A123T	NM_001185085	NP_001172014	WXS	Illumina GAIIx	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	3	700	+		Lung SC(185;0.0225)|Breast(139;0.077)	123					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.367G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857469	0.51376	0.0	1.16E-4	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.85339	-1.97;-1.97	5.06	5.06	0.68205	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000002	D	0.89280	0.6670	M	0.85197	2.74	0.80722	D	1	P;D	0.54047	0.948;0.964	P;B	0.48141	0.568;0.369	D	0.91355	0.5107	10	0.87932	D	0	.	15.9701	0.80008	0.0:0.0:1.0:0.0	.	123;123	P54707-2;P54707	.;AT12A_HUMAN	T	123	ENSP00000218548:A123T;ENSP00000371372:A123T	ENSP00000218548:A123T	A	+	1	0	ATP12A	24160595	1.000000	0.71417	0.071000	0.20095	0.020000	0.10135	6.296000	0.72751	2.624000	0.88883	0.655000	0.94253	GCC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		90	365	0	0	0	1	0	90	365					A	25262595	G	A	25262595	3	1	163	1	0	0	0	0	1	0	0	0	1122	1087	38	1	381	1	ATP12A	13	25262595	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		25262595	89907283	59	2872											
THSD1	55901	broad.mit.edu	37	13	52971918	52971918	+	Missense_Mutation	SNP	G	G	A	rs377383416		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:52971918G>A	ENST00000258613.4	-	3	648	c.470C>T	c.(469-471)cCg>cTg	p.P157L	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.P157L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	157					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)		CACAGGAAACGGGCACAGTGG	0.498																																						uc001vgo.3																			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.(469-471)cCg>cTg		Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.							100	85	90					13																	52971918		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971918G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.470C>T	13.37:g.52971918G>A	ENSP00000258613:p.Pro157Leu		Somatic				THSD1_uc001vgp.3_Missense_Mutation_p.P157L|THSD1_uc010tgz.2_Intron	p.P157L	NM_018676	NP_061146	WXS	Illumina GAIIx	Phase_I	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	2	1015	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	157					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.470C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	2.779	-0.254001	0.05829	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.17213	2.29;2.46	5.54	0.591	0.17465	.	0.650212	0.15529	N	0.257584	T	0.10078	0.0247	L	0.31926	0.97	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.35773	-0.9775	10	0.21014	T	0.42	4.0E-4	4.6539	0.12608	0.4049:0.0:0.4546:0.1405	.	157;157	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	157	ENSP00000340650:P157L;ENSP00000258613:P157L	ENSP00000258613:P157L	P	-	2	0	THSD1	51869919	0.015000	0.18098	0.000000	0.03702	0.043000	0.13939	0.691000	0.25467	-0.220000	0.09988	0.561000	0.74099	CCG		0.498	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			8	85	0	0	0	1	0	8	85					A	52971918	G	A	52971918	3	1	163	1	0	0	0	0	1	0	0	0	15874	1116	39	1	2100	1	THSD1	13	52971918	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	27709323	52971918	62197960	60	2873											
DIS3	22894	broad.mit.edu	37	13	73349381	73349381	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:73349381C>T	ENST00000377767.4	-	6	1055	c.955G>A	c.(955-957)Gat>Aat	p.D319N	DIS3_ENST00000377780.4_Missense_Mutation_p.D289N|DIS3_ENST00000545453.1_Missense_Mutation_p.D157N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	319					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCTCCACATCTTCTTCATTT	0.393										Multiple Myeloma(4;0.011)																												uc001vix.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(955-957)Gat>Aat		Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.							124	128	127					13																	73349381		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding	g.chr13:73349381C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.955G>A	13.37:g.73349381C>T	ENSP00000366997:p.Asp319Asn	Multiple Myeloma(4;0.011)	Somatic				DIS3_uc001viy.4_Missense_Mutation_p.D289N|DIS3_uc001viz.3_Non-coding_Transcript	p.D319N	NM_014953	NP_055768	WXS	Illumina GAIIx	Phase_I	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	5	1329	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	319					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.955G>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165698	0.57476	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.43294	0.95;0.95;0.95	6.06	5.23	0.72850	.	0.137236	0.64402	N	0.000004	T	0.44286	0.1286	M	0.70108	2.13	0.58432	D	0.999998	B;B	0.13145	0.005;0.007	B;B	0.18561	0.022;0.02	T	0.34775	-0.9815	10	0.39692	T	0.17	.	13.483	0.61348	0.0:0.8702:0.0:0.1298	.	289;319	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	N	319;289;157	ENSP00000366997:D319N;ENSP00000367011:D289N;ENSP00000440058:D157N	ENSP00000366997:D319N	D	-	1	0	DIS3	72247382	0.988000	0.35896	0.993000	0.49108	0.983000	0.72400	2.663000	0.46774	1.574000	0.49760	0.650000	0.86243	GAT		0.393	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		22	99	0	0	0	1	0	22	99					T	73349381	C	T	73349381	3	4	163	1	0	0	0	0	1	0	0	0	4535	913	32	2	1985	2	DIS3	13	73349381	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	20377463	73349381	41820497	61	2874											
FAM155A	728215	broad.mit.edu	37	13	107823105	107823105	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr13:107823105C>T	ENST00000375915.2	-	3	1255	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	373						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CATTCTGGTTCATCATTGGTT	0.443																																						uc001vql.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1117-1119)Gaa>Aaa		Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.							163	133	143					13																	107823105		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107823105C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1117G>A	13.37:g.107823105C>T	ENSP00000365080:p.Glu373Lys		Somatic					p.E373K	NM_001080396	NP_001073865	WXS	Illumina GAIIx	Phase_I	B1AL88	F155A_HUMAN			2	1633	-			373					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.1117G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880202	0.72294	.	.	ENSG00000204442	ENST00000375915	T	0.11495	2.77	5.58	5.58	0.84498	.	0.116985	0.56097	D	0.000029	T	0.16300	0.0392	L	0.57536	1.79	0.53688	D	0.999971	P	0.39480	0.675	B	0.38428	0.273	T	0.00785	-1.1567	10	0.62326	D	0.03	.	18.6257	0.91336	0.0:1.0:0.0:0.0	.	373	B1AL88	F155A_HUMAN	K	373	ENSP00000365080:E373K	ENSP00000365080:E373K	E	-	1	0	FAM155A	106621106	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.806000	0.62569	2.626000	0.88956	0.644000	0.83932	GAA		0.443	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		5	66	0	0	0	1	0	5	66					T	107823105	C	T	107823105	3	4	163	1	0	0	0	0	1	0	0	0	5465	835	29	2	263	2	FAM155A	13	107823105	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	34473724	107823105	7346773	62	2875											
OR4K17	390436	broad.mit.edu	37	14	20586459	20586459	+	Silent	SNP	A	A	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:20586459A>T	ENST00000315543.4	+	1	894	c.894A>T	c.(892-894)gtA>gtT	p.V298V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACCACTCTGTAGATAAGTTCC	0.398																																						uc001vwo.1																			0		p.V298L(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(892-894)gtA>gtT		Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.							89	82	84					14																	20586459		2203	4300	6503	SO:0001819	synonymous_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586459A>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.894A>T	14.37:g.20586459A>T			Somatic					p.V298V	NM_001004715	NP_001004715	WXS	Illumina GAIIx	Phase_I	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	0	894	+	all_cancers(95;0.00108)		270					Q6IF12	Silent	SNP	ENST00000315543.4	37	c.894A>T	CCDS32030.1																																																																																				0.398	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			13	44	0	0	0	1	0	13	44					T	20586459	A	T	20586459	2	4	163	1	0	0	0	0	0	0	0	1	11071	407	15	5		5	OR4K17	14	20586459	Silent	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08		20586459	86763081	63	2876											
LRP10	26020	broad.mit.edu	37	14	23346174	23346174	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:23346174C>T	ENST00000359591.4	+	7	2271	c.1580C>T	c.(1579-1581)tCt>tTt	p.S527F	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.S527F	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	527					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AACCTGCGTTCTCTGCTACAG	0.622																																						uc001whd.3																			0		p.R526H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1579-1581)tCt>tTt		Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.							63	59	60					14																	23346174		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346174C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1580C>T	14.37:g.23346174C>T	ENSP00000352601:p.Ser527Phe		Somatic				LRP10_uc001whe.3_Missense_Mutation_p.S403F	p.S527F	NM_014045	NP_054764	WXS	Illumina GAIIx	Phase_I	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	6	2133	+	all_cancers(95;4.69e-05)		527					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1580C>T	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979984	0.74360	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	D;D	0.94280	-3.16;-3.39	5.13	5.13	0.70059	.	0.316684	0.33364	N	0.005000	D	0.95017	0.8387	L	0.53249	1.67	0.41694	D	0.98936	D	0.71674	0.998	P	0.61940	0.896	D	0.95220	0.8333	10	0.59425	D	0.04	-18.1735	15.8424	0.78861	0.0:1.0:0.0:0.0	.	527	Q7Z4F1	LRP10_HUMAN	F	527	ENSP00000352601:S527F;ENSP00000447559:S527F	ENSP00000352601:S527F	S	+	2	0	LRP10	22416014	0.991000	0.36638	1.000000	0.80357	0.979000	0.70002	2.608000	0.46308	2.557000	0.86248	0.563000	0.77884	TCT		0.622	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			22	62	0	0	0	1	0	22	62					T	23346174	C	T	23346174	3	4	163	1	0	0	0	0	1	0	0	0	8952	913	32	2	1606	2	LRP10	14	23346174	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2759715	23346174	84003366	64	2877											
NFATC4	4776	broad.mit.edu	37	14	24839163	24839163	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:24839163G>A	ENST00000250373.4	+	2	700	c.559G>A	c.(559-561)Gac>Aac	p.D187N	NFATC4_ENST00000554966.1_Missense_Mutation_p.D200N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D117N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D175N|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.D175N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556169.1_Missense_Mutation_p.D175N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D187N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D219N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D250N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D250N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D219N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D117N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000553708.1_Missense_Mutation_p.D187N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D200N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D117N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D200N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D219N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D117N|NFATC4_ENST00000554473.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	187	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGATGCCTCTGACGAGGCAGC	0.682																																						uc010tol.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(748-750)Gac>Aac		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.							23	25	24					14																	24839163		2157	4264	6421	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839163G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.559G>A	14.37:g.24839163G>A	ENSP00000250373:p.Asp187Asn		Somatic				NFATC4_uc010alr.3_Missense_Mutation_p.D250N|NFATC4_uc010tok.2_Missense_Mutation_p.D250N|NFATC4_uc010als.2_Missense_Mutation_p.D200N|NFATC4_uc010too.2_Missense_Mutation_p.D200N|NFATC4_uc010tom.2_Missense_Mutation_p.D200N|NFATC4_uc010ton.2_Missense_Mutation_p.D200N|NFATC4_uc010toq.2_Missense_Mutation_p.D219N|NFATC4_uc010alt.3_Missense_Mutation_p.D219N|NFATC4_uc010top.2_Missense_Mutation_p.D219N|NFATC4_uc010alu.3_Intron|NFATC4_uc001wpc.3_Missense_Mutation_p.D187N|NFATC4_uc010tor.2_Missense_Mutation_p.D187N|NFATC4_uc010tos.2_Missense_Mutation_p.D117N|NFATC4_uc010tot.2_Missense_Mutation_p.D175N|NFATC4_uc010tou.2_Missense_Mutation_p.D117N|NFATC4_uc010tov.2_Missense_Mutation_p.D175N|NFATC4_uc010tow.2_Missense_Mutation_p.D117N|NFATC4_uc010alv.3_Missense_Mutation_p.D175N|NFATC4_uc010tox.2_Missense_Mutation_p.D117N|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	p.D250N	NM_001198966	NP_001185895	WXS	Illumina GAIIx	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	864	+			187			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.748G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215035	0.39102	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	3.61	3.61	0.41365	.	0.242174	0.28560	N	0.014901	T	0.23766	0.0575	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.69078	0.978;0.978;0.978;0.978;0.978;0.978;0.978;0.997;0.997;0.978;0.997;0.995;0.978;0.963	P;P;P;P;P;P;P;P;P;P;P;P;P;B	0.62184	0.629;0.629;0.629;0.629;0.629;0.629;0.629;0.899;0.899;0.629;0.855;0.795;0.719;0.425	T	0.03103	-1.1072	10	0.54805	T	0.06	-6.5012	13.1146	0.59294	0.0:0.0:1.0:0.0	.	175;175;219;219;200;200;200;250;250;175;219;164;250;187	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	250;250;200;200;200;219;219;219;187;187;187;164;117;117;117;175;117;175;175	ENSP00000388910:D250N;ENSP00000452039:D250N;ENSP00000451224:D200N;ENSP00000450644:D200N;ENSP00000388668:D200N;ENSP00000439350:D219N;ENSP00000452270:D219N;ENSP00000451502:D219N;ENSP00000451151:D187N;ENSP00000250373:D187N;ENSP00000450590:D187N;ENSP00000452352:D164N;ENSP00000452349:D117N;ENSP00000450469:D117N;ENSP00000450733:D117N;ENSP00000451454:D175N;ENSP00000451284:D117N;ENSP00000396788:D175N;ENSP00000450686:D175N	ENSP00000250373:D187N	D	+	1	0	NFATC4	23909003	0.998000	0.40836	0.202000	0.23494	0.914000	0.54420	5.575000	0.67430	2.009000	0.58944	0.467000	0.42956	GAC		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		4	56	0	0	0	1	0	4	56					A	24839163	G	A	24839163	3	1	163	1	0	0	0	0	1	0	0	0	10365	1290	45	2	758	2	NFATC4	14	24839163	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1492989	24839163	82510377	65	2878											
TOMM20L	387990	broad.mit.edu	37	14	58863033	58863033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:58863033C>T	ENST00000360945.2	+	2	196	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	RP11-517O13.3_ENST00000556390.1_RNA|RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	52					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						AGCAGAGCCTCAAAAGGCTGA	0.657																																						uc001xdr.1																			0				large_intestine(2)|lung(2)	4						c.(154-156)Caa>Taa		Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast)-like (TOMM20L), nuclear gene encoding mitochondrial protein, mRNA.							63	58	60					14																	58863033		2203	4300	6503	SO:0001587	stop_gained	387990				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		g.chr14:58863033C>T		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type I"					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.154C>T	14.37:g.58863033C>T	ENSP00000354204:p.Gln52*		Somatic				TOMM20L_uc010trq.1_Non-coding_Transcript	p.Q52*	NM_207377	NP_997260	WXS	Illumina GAIIx	Phase_I	Q6UXN7	TO20L_HUMAN			1	186	+			52					B2RPR0	Nonsense_Mutation	SNP	ENST00000360945.2	37	c.154C>T	CCDS9734.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725972	0.48833	.	.	ENSG00000196860	ENST00000360945	.	.	.	3.76	1.82	0.25136	.	2.597800	0.02540	N	0.094466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	15.8016	5.4609	0.16615	0.0:0.6792:0.2023:0.1185	.	.	.	.	X	52	.	ENSP00000354204:Q52X	Q	+	1	0	TOMM20L	57932786	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.225000	0.17757	0.228000	0.21019	0.563000	0.77884	CAA		0.657	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		8	35	0	0	0	1	0	8	35					T	58863033	C	T	58863033	4	4	163	1	0	0	0	0	0	1	0	0	16352	827	29	2	160	2	TOMM20L	14	58863033	Nonsense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	34023870	58863033	48486507	66	2879											
RAD51L1	5890	broad.mit.edu	37	14	68758606	68758606	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr14:68758606C>T	ENST00000487270.1	+	8	810	c.762C>T	c.(760-762)atC>atT	p.I254I	RAD51B_ENST00000487861.1_Silent_p.I254I|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Silent_p.I254I|RAD51B_ENST00000390683.3_Silent_p.I254I|RAD51B_ENST00000488612.1_Silent_p.I254I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	254					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|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)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CACAGGTTATCTTGACGAATC	0.478								Direct reversal of damage																														uc001xkf.2																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(760-762)atC>atT	Direct reversal of damage	Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA.							114	110	111					14																	68758606		2203	4300	6503	SO:0001819	synonymous_variant	5890				DNA repair|blood coagulation|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68758606C>T	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.762C>T	14.37:g.68758606C>T			Somatic				RAD51B_uc001xkd.3_Silent_p.I254I|RAD51B_uc010aqr.3_Silent_p.I135I|RAD51B_uc001xke.3_Silent_p.I254I|RAD51B_uc001xkg.2_Silent_p.I254I	p.I254I	NM_133509	NP_598193	WXS	Illumina GAIIx	Phase_I	O15315	RA51B_HUMAN			7	839	+			254					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	ENST00000487270.1	37	c.762C>T	CCDS9789.1																																																																																				0.478	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			30	74	0	0	0	1	0	30	74					T	68758606	C	T	68758606	2	4	163	1	0	0	0	0	0	0	0	1	12989	903	32	2		2	RAD51L1	14	68758606	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	9895573	68758606	38590934	67	2880											
GLCE	26035	broad.mit.edu	37	15	69561469	69561469	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:69561469C>T	ENST00000261858.2	+	5	1968	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	GLCE_ENST00000559420.2_Silent_p.T516T	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	580					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTATCATACCACCCACATCA	0.502																																						uc002ary.1																			0		p.H579Y(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1738-1740)acC>acT		Homo sapiens glucuronic acid epimerase (GLCE), mRNA.							215	209	211					15																	69561469		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561469C>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1740C>T	15.37:g.69561469C>T			Somatic					p.T580T	NM_015554	NP_056369	WXS	Illumina GAIIx	Phase_I	O94923	GLCE_HUMAN			4	1968	+			580					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.1740C>T	CCDS32277.1																																																																																				0.502	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		72	222	0	0	0	1	0	72	222					T	69561469	C	T	69561469	2	4	163	1	0	0	0	0	0	0	0	1	6432	581	21	2		2	GLCE	15	69561469	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		69561469	32969923	68	2881											
ZNF710	374655	broad.mit.edu	37	15	90611785	90611785	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr15:90611785C>T	ENST00000268154.4	+	2	1667	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	472					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(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCATGGAGTTCAGCCAGATTC	0.577																																						uc002bov.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1414-1416)ttC>ttT		Homo sapiens zinc finger protein 710 (ZNF710), mRNA.							196	179	185					15																	90611785		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611785C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1416C>T	15.37:g.90611785C>T			Somatic					p.F472F	NM_198526	NP_940928	WXS	Illumina GAIIx	Phase_I	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		1	1539	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		472					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1416C>T	CCDS10358.1																																																																																				0.577	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		15	167	0	0	0	1	0	15	167					T	90611785	C	T	90611785	2	4	163	1	0	0	0	0	0	0	0	1	18112	825	29	2		2	ZNF710	15	90611785	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	21050316	90611785	11919607	69	2882											
CLDN6	9074	broad.mit.edu	37	16	3065427	3065427	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:3065427C>T	ENST00000396925.1	-	3	1024	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CLDN6_ENST00000328796.4_Missense_Mutation_p.R199H|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	199					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTTGAGTAGCGGGCCATGTA	0.652																																						uc002csu.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(595-597)cGc>cAc		Homo sapiens claudin 6 (CLDN6), mRNA.							44	51	48					16																	3065427		2198	4300	6498	SO:0001583	missense	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065427C>T	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.596G>A	16.37:g.3065427C>T	ENSP00000380131:p.Arg199His		Somatic				CLDN6_uc021tbb.1_Missense_Mutation_p.R199H	p.R199H	NM_021195	NP_067018	WXS	Illumina GAIIx	Phase_I	P56747	CLD6_HUMAN			1	656	-			199					B3KQP9|D3DUA5	Missense_Mutation	SNP	ENST00000396925.1	37	c.596G>A	CCDS10488.1	.	.	.	.	.	.	.	.	.	.	C	7.394	0.631414	0.14322	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.84730	-1.89;-1.89	4.77	1.69	0.24217	.	0.408988	0.23375	N	0.048872	T	0.66655	0.2811	N	0.08118	0	0.25098	N	0.990805	B	0.09022	0.002	B	0.04013	0.001	T	0.56703	-0.7935	10	0.48119	T	0.1	.	5.8754	0.18826	0.1535:0.6759:0.0:0.1706	.	199	P56747	CLD6_HUMAN	H	199	ENSP00000380131:R199H;ENSP00000328674:R199H	ENSP00000328674:R199H	R	-	2	0	CLDN6	3005428	0.030000	0.19436	0.955000	0.39395	0.438000	0.31896	0.158000	0.16422	0.311000	0.23014	0.561000	0.74099	CGC		0.652	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		28	88	0	0	0	1	0	28	88					T	3065427	C	T	3065427	3	4	163	1	0	0	0	0	1	0	0	0	3489	768	27	1	70	1	CLDN6	16	3065427	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		3065427	87289326	70	2883											
ZNF646	9726	broad.mit.edu	37	16	31089468	31089468	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:31089468A>C	ENST00000394979.2	+	1	2246	c.1823A>C	c.(1822-1824)gAg>gCg	p.E608A	ZNF646_ENST00000300850.5_Missense_Mutation_p.E608A			O15015	ZN646_HUMAN	zinc finger protein 646	608					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCAGAACAGAGACCACAATG	0.537																																						uc002eap.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1822-1824)gAg>gCg		Homo sapiens zinc finger protein 646 (ZNF646), mRNA.							129	120	123					16																	31089468		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089468A>C	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1823A>C	16.37:g.31089468A>C	ENSP00000378429:p.Glu608Ala		Somatic				ZNF646_uc021tgu.1_Missense_Mutation_p.E608A	p.E608A	NM_014699	NP_055514	WXS	Illumina GAIIx	Phase_I	O15015	ZN646_HUMAN			1	2112	+			608					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1823A>C		.	.	.	.	.	.	.	.	.	.	A	1.963	-0.438316	0.04636	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08984	3.03;3.05	5.2	4.12	0.48240	.	.	.	.	.	T	0.08223	0.0205	L	0.31578	0.945	0.22317	N	0.999204	B	0.19583	0.037	B	0.24701	0.055	T	0.28202	-1.0051	9	0.62326	D	0.03	-4.4068	10.1156	0.42589	0.9203:0.0:0.0797:0.0	.	608	O15015-2	.	A	608	ENSP00000300850:E608A;ENSP00000378429:E608A	ENSP00000300850:E608A	E	+	2	0	ZNF646	30996969	0.990000	0.36364	0.632000	0.29296	0.181000	0.23173	3.102000	0.50291	1.018000	0.39521	0.533000	0.62120	GAG		0.537	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		13	84	0	0	0	1	0	13	84					C	31089468	A	C	31089468	3	2	163	1	0	0	0	0	1	0	0	0	18059	304	11	5	1825	5	ZNF646	16	31089468	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	28024041	31089468	59265285	71	2884											
CHD9	80205	broad.mit.edu	37	16	53262947	53262947	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr16:53262947A>G	ENST00000398510.3	+	7	2308	c.2221A>G	c.(2221-2223)Agg>Ggg	p.R741G	CHD9_ENST00000447540.1_Missense_Mutation_p.R741G|CHD9_ENST00000566029.1_Missense_Mutation_p.R741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R741G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	741	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAAGATAAAAGGATCCAGCA	0.318																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2221-2223)Agg>Ggg		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							38	33	35					16																	53262947		1804	4073	5877	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53262947A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2221A>G	16.37:g.53262947A>G	ENSP00000381522:p.Arg741Gly		Somatic				CHD9_uc002egy.3_Missense_Mutation_p.R741G|CHD9_uc002ehc.3_Missense_Mutation_p.R741G|CHD9_uc002ehd.2_Missense_Mutation_p.R267G	p.R741G	NM_025134	NP_079410	WXS	Illumina GAIIx	Phase_I	Q3L8U1	CHD9_HUMAN			6	2385	+		all_cancers(37;0.0212)	741			Chromo 1.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2221A>G		.	.	.	.	.	.	.	.	.	.	A	19.25	3.791836	0.70452	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.88046	-2.25;-2.33	5.36	5.36	0.76844	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000007	D	0.93015	0.7777	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.62365	0.983;0.984;0.991;0.989	D;D;D;D	0.78314	0.943;0.954;0.991;0.985	D	0.93397	0.6757	10	0.59425	D	0.04	-11.8628	11.3756	0.49726	0.8486:0.1514:0.0:0.0	.	267;741;741;741	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	G	741;741;267	ENSP00000396345:R741G;ENSP00000381522:R741G	ENSP00000219084:R267G	R	+	1	2	CHD9	51820448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.879000	0.69690	2.021000	0.59480	0.377000	0.23210	AGG		0.318	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		2	11	0	0	0	1	0	2	11					G	53262947	A	G	53262947	3	3	163	1	0	0	0	0	1	0	0	0	3332	63	3	3	2247	3	CHD9	16	53262947	Missense_Mutation	SNP	A	TCGA-EL-A3CT-01A-12D-A202-08	22173479	53262947	37091806	72	2885											
ZZEF1	23140	broad.mit.edu	37	17	3937546	3937546	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3937546G>A	ENST00000381638.2	-	40	6471	c.6347C>T	c.(6346-6348)cCa>cTa	p.P2116L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2116							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAACATGAGTGGAAGGACGTG	0.493																																						uc002fxe.3																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6346-6348)cCa>cTa		Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.							81	70	74					17																	3937546		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3937546G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6347C>T	17.37:g.3937546G>A	ENSP00000371051:p.Pro2116Leu		Somatic				ZZEF1_uc002fxh.3_Missense_Mutation_p.P430L|ZZEF1_uc002fxi.3_Missense_Mutation_p.P351L|ZZEF1_uc002fxj.1_Missense_Mutation_p.P729L	p.P2116L	NM_015113	NP_055928	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			39	6411	-			2116					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.6347C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160880	0.94727	.	.	ENSG00000074755	ENST00000381638	T	0.27104	1.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.953	D;P	0.91635	0.999;0.857	T	0.30357	-0.9981	10	0.87932	D	0	-9.8962	19.5818	0.95469	0.0:0.0:1.0:0.0	.	2116;2116	O43149-2;O43149	.;ZZEF1_HUMAN	L	2116	ENSP00000371051:P2116L	ENSP00000371051:P2116L	P	-	2	0	ZZEF1	3884295	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.187000	0.77730	2.850000	0.98022	0.650000	0.86243	CCA		0.493	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	80	0	0	0	1	0	3	80					A	3937546	G	A	3937546	3	1	163	1	0	0	0	0	1	0	0	0	18252	1348	47	2	2602	2	ZZEF1	17	3937546	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		3937546	77257664	73	2886											
ZZEF1	23140	broad.mit.edu	37	17	3984759	3984759	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:3984759G>A	ENST00000381638.2	-	18	2864	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	914							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L914delL(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAGGTAAAAGAAGAAGGCCG	0.448																																						uc002fxe.3																			1	Deletion - In frame(1)	p.L914delL(2)	large_intestine(1)	central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2740-2742)Ctt>Ttt		Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.							99	93	95					17																	3984759		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3984759G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2740C>T	17.37:g.3984759G>A	ENSP00000371051:p.Leu914Phe		Somatic				ZZEF1_uc002fxk.1_Missense_Mutation_p.L915F	p.L914F	NM_015113	NP_055928	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			17	2804	-			914					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2740C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384224	0.61845	.	.	ENSG00000074755	ENST00000381638	T	0.22945	1.93	5.36	5.36	0.76844	.	0.068014	0.64402	D	0.000010	T	0.33904	0.0879	L	0.29908	0.895	0.49687	D	0.999817	D;D	0.76494	0.994;0.999	P;D	0.68943	0.908;0.961	T	0.10064	-1.0646	10	0.72032	D	0.01	-11.9995	7.8585	0.29495	0.1774:0.0:0.8226:0.0	.	915;914	O43149-3;O43149	.;ZZEF1_HUMAN	F	914	ENSP00000371051:L914F	ENSP00000371051:L914F	L	-	1	0	ZZEF1	3931508	0.990000	0.36364	0.971000	0.41717	0.765000	0.43378	2.160000	0.42348	2.499000	0.84300	0.591000	0.81541	CTT		0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		35	79	0	0	0	1	0	35	79					A	3984759	G	A	3984759	3	1	163	1	0	0	0	0	1	0	0	0	18252	942	33	2	6297	2	ZZEF1	17	3984759	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	47213	3984759	77210451	74	2887											
GLP2R	9340	broad.mit.edu	37	17	9760756	9760756	+	Missense_Mutation	SNP	C	C	T	rs575133662		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr17:9760756C>T	ENST00000262441.5	+	6	1141	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	GLP2R_ENST00000574745.1_Missense_Mutation_p.R30C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	210					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.R210C(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CCACTGCACGCGCAACTACAT	0.493													C|||	1	0.000199681	0	0.0014	5008	,	,		20519	0		0	False		,,,				2504	0					uc002gmd.1																			2	Substitution - Missense(2)	p.R210C(4)|p.R210L(1)	ovary(1)|endometrium(1)	endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(628-630)Cgc>Tgc		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)						186	154	165					17																	9760756		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9760756C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.628C>T	17.37:g.9760756C>T	ENSP00000262441:p.Arg210Cys		Somatic					p.R210C	NM_004246	NP_004237	WXS	Illumina GAIIx	Phase_I	O95838	GLP2R_HUMAN			5	628	+			210					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.628C>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103897	0.37145	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.37058	1.22	5.28	5.28	0.74379	GPCR, family 2-like (1);	0.000000	0.40469	N	0.001095	T	0.70675	0.3251	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78940	-0.2006	10	0.87932	D	0	.	11.2655	0.49108	0.283:0.717:0.0:0.0	.	210	O95838	GLP2R_HUMAN	C	210;185;210	ENSP00000262441:R210C	ENSP00000262441:R210C	R	+	1	0	GLP2R	9701481	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.895000	0.63214	2.756000	0.94617	0.655000	0.94253	CGC		0.493	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			7	66	0	0	0	1	0	7	66					T	9760756	C	T	9760756	3	4	163	1	0	0	0	0	1	0	0	0	6453	768	27	1	650	1	GLP2R	17	9760756	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	5775997	9760756	71434454	75	2888											
YES1	7525	broad.mit.edu	37	18	748002	748002	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:748002C>T	ENST00000584307.1	-	4	558	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	YES1_ENST00000577961.1_Missense_Mutation_p.E135K|YES1_ENST00000314574.4_Missense_Mutation_p.E130K			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	130	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GATCTTGCTTCCCACCAATCT	0.433																																						uc002kky.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(388-390)Gaa>Aaa		Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	Dasatinib(DB01254)						180	160	167					18																	748002		2203	4300	6503	SO:0001583	missense	7525				T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:748002C>T	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.388G>A	18.37:g.748002C>T	ENSP00000462468:p.Glu130Lys		Somatic				YES1_uc002kkz.3_Missense_Mutation_p.E130K	p.E130K	NM_005433	NP_005424	WXS	Illumina GAIIx	Phase_I	P07947	YES_HUMAN			3	609	-			130			SH3.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.388G>A	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937449	0.73557	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.42900	0.96	5.64	5.64	0.86602	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	N	0.13140	0.3	0.80722	D	1	B	0.24186	0.099	B	0.25759	0.063	T	0.06734	-1.0810	10	0.21540	T	0.41	.	20.0556	0.97650	0.0:1.0:0.0:0.0	.	130	P07947	YES_HUMAN	K	130	ENSP00000324740:E130K	ENSP00000324740:E130K	E	-	1	0	YES1	738002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.918000	0.69996	2.821000	0.97095	0.484000	0.47621	GAA		0.433	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		31	111	0	0	0	1	0	31	111					T	748002	C	T	748002	3	4	163	1	0	0	0	0	1	0	0	0	17471	864	30	2	1279	2	YES1	18	748002	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		748002	77329246	76	2889											
NOL4	8715	broad.mit.edu	37	18	31463212	31463212	+	Silent	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:31463212G>A	ENST00000261592.5	-	10	2016	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	NOL4_ENST00000269185.4_Silent_p.S357S|NOL4_ENST00000535384.1_Silent_p.S288S|NOL4_ENST00000535475.1_Silent_p.S354S|NOL4_ENST00000589544.1_Silent_p.S471S|NOL4_ENST00000538587.1_Silent_p.S499S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	573						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACTCACCACTGCTGGAAGCAT	0.383																																						uc010dmi.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1717-1719)agC>agT		Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.							149	133	138					18																	31463212		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31463212G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1719C>T	18.37:g.31463212G>A			Somatic				NOL4_uc010xbs.2_Silent_p.S288S|NOL4_uc002kxr.4_Silent_p.S345S|NOL4_uc010xbt.2_Silent_p.S499S|NOL4_uc010dmh.3_Silent_p.S435S|NOL4_uc010xbu.2_Silent_p.S509S|NOL4_uc002kxt.4_Silent_p.S471S	p.S573S	NM_003787	NP_001185478	WXS	Illumina GAIIx	Phase_I	O94818	NOL4_HUMAN			9	2017	-			573					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1719C>T	CCDS11907.2																																																																																				0.383	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		33	159	0	0	0	1	0	33	159					A	31463212	G	A	31463212	2	1	163	1	0	0	0	0	0	0	0	1	10524	1310	46	2		2	NOL4	18	31463212	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	30715210	31463212	46614036	77	2890											
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:32438301C>T	ENST00000399113.3	+	15	1504	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	DTNA_ENST00000595022.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000601125.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000597674.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000399121.5_Nonsense_Mutation_p.Q442*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.Q499*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.Q503*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.Q502*|DTNA_ENST00000269191.6_Nonsense_Mutation_p.Q502*|DTNA_ENST00000399097.3_Nonsense_Mutation_p.Q150*|DTNA_ENST00000599844.1_Nonsense_Mutation_p.Q124*|DTNA_ENST00000556414.3_Nonsense_Mutation_p.Q154*|DTNA_ENST00000597599.1_Nonsense_Mutation_p.Q442*|DTNA_ENST00000598774.1_Nonsense_Mutation_p.Q445*|DTNA_ENST00000591182.1_Nonsense_Mutation_p.Q150*|DTNA_ENST00000283365.9_Nonsense_Mutation_p.Q445*|DTNA_ENST00000596745.1_Nonsense_Mutation_p.Q252*|DTNA_ENST00000269192.7_Nonsense_Mutation_p.Q211*			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	502					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.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACAAGCTTCTCAGCCCACGCC	0.512																																						uc010dmn.1																			6	Substitution - Missense(3)|Substitution - Nonsense(3)	p.Q502E(1)|p.Q503E(1)|p.Q503*(1)|p.Q502*(1)|p.Q150*(1)|p.Q150E(1)	lung(6)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1504-1506)Cag>Tag		Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.							67	65	66					18																	32438301		2203	4300	6503	SO:0001587	stop_gained	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438301C>T	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	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1504C>T	18.37:g.32438301C>T	ENSP00000382064:p.Gln502*		Somatic				DTNA_uc010xbx.2_Nonsense_Mutation_p.Q252*|DTNA_uc002kxv.4_Nonsense_Mutation_p.Q445*|DTNA_uc002kxw.2_Nonsense_Mutation_p.Q445*|DTNA_uc002kxz.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxy.2_Nonsense_Mutation_p.Q442*|DTNA_uc010dmj.3_Nonsense_Mutation_p.Q442*|DTNA_uc002kyb.4_Nonsense_Mutation_p.Q499*|DTNA_uc010dml.3_Nonsense_Mutation_p.Q442*|DTNA_uc010dmm.3_Nonsense_Mutation_p.Q502*|DTNA_uc010xby.1_Nonsense_Mutation_p.Q192*|DTNA_uc021uiq.1_Nonsense_Mutation_p.Q279*|DTNA_uc021uir.1_Nonsense_Mutation_p.Q222*|DTNA_uc002kyd.4_Nonsense_Mutation_p.Q124*|DTNA_uc010dmo.3_Nonsense_Mutation_p.Q124*|DTNA_uc002kye.3_Nonsense_Mutation_p.Q150*|DTNA_uc010xca.2_Nonsense_Mutation_p.Q154*|DTNA_uc010xbz.2_Nonsense_Mutation_p.Q211*	p.Q502*	NM_001390	NP_001381	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			14	1505	+			502					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Nonsense_Mutation	SNP	ENST00000399113.3	37	c.1504C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	38	6.884341	0.97908	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.8894	19.4422	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	X	445;445;442;503;150;499;502;502;502;502;211;150;154	.	ENSP00000269190:Q503X	Q	+	1	0	DTNA	30692299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.612000	0.88384	0.650000	0.86243	CAG		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		15	80	0	0	0	1	0	15	80					T	32438301	C	T	32438301	4	4	163	1	0	0	0	0	0	1	0	0	4788	827	29	2	1597	2	DTNA	18	32438301	Nonsense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	975089	32438301	45638947	78	2891											
RPRD1A	55197	broad.mit.edu	37	18	33647312	33647312	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:33647312G>A	ENST00000399022.4	-	1	227	c.56C>T	c.(55-57)tCg>tTg	p.S19L	RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000588459.1_5'Flank|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S19L|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S19L|RPRD1A_ENST00000590898.1_5'UTR	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	19	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTCTGCTGCGAGTTGCTCAA	0.637																																						uc002kzg.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(55-57)tCg>tTg		Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.							91	65	74					18																	33647312		2202	4300	6502	SO:0001583	missense	55197							g.chr18:33647312G>A	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.56C>T	18.37:g.33647312G>A	ENSP00000381984:p.Ser19Leu		Somatic				RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.S19L	p.S19L	NM_018170	NP_060640	WXS	Illumina GAIIx	Phase_I	Q96P16	RPR1A_HUMAN			0	62	-			19			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.56C>T	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306429	0.95629	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000319040	T;T;T	0.55588	0.51;0.51;0.51	5.38	4.51	0.55191	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.975	T	0.81413	-0.0944	10	0.87932	D	0	-4.2553	12.0771	0.53649	0.0842:0.0:0.9158:0.0	.	19;19	Q96P16-2;Q96P16	.;RPR1A_HUMAN	L	19	ENSP00000381984:S19L;ENSP00000349955:S19L;ENSP00000314602:S19L	ENSP00000314602:S19L	S	-	2	0	RPRD1A	31901310	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.457000	0.97630	1.279000	0.44446	0.561000	0.74099	TCG		0.637	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		4	9	0	0	0	1	0	4	9					A	33647312	G	A	33647312	3	1	163	1	0	0	0	0	1	0	0	0	13615	1059	37	1	910	1	RPRD1A	18	33647312	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1209011	33647312	44429936	79	2892											
MBD1	4152	broad.mit.edu	37	18	47803212	47803212	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr18:47803212G>A	ENST00000591416.1	-	4	813	c.382C>T	c.(382-384)Cct>Tct	p.P128S	MBD1_ENST00000457839.2_Missense_Mutation_p.P128S|MBD1_ENST00000436910.1_Missense_Mutation_p.P128S|MBD1_ENST00000349085.2_Missense_Mutation_p.P128S|MBD1_ENST00000398493.1_Missense_Mutation_p.P128S|MBD1_ENST00000382948.5_Missense_Mutation_p.P128S|MBD1_ENST00000353909.3_Missense_Mutation_p.P128S|MBD1_ENST00000588937.1_Missense_Mutation_p.P128S|MBD1_ENST00000398495.2_Missense_Mutation_p.P128S|MBD1_ENST00000590208.1_Missense_Mutation_p.P128S|MBD1_ENST00000347968.3_Missense_Mutation_p.P128S|MBD1_ENST00000585672.1_Missense_Mutation_p.P128S|MBD1_ENST00000587605.1_Missense_Mutation_p.P128S|MBD1_ENST00000339998.6_Missense_Mutation_p.P128S|MBD1_ENST00000591535.1_Missense_Mutation_p.P128S|MBD1_ENST00000424334.2_Missense_Mutation_p.P154S|MBD1_ENST00000269468.5_Missense_Mutation_p.P128S|MBD1_ENST00000398488.1_Missense_Mutation_p.P128S|MBD1_ENST00000269471.5_Missense_Mutation_p.P128S|MBD1_ENST00000585595.1_Missense_Mutation_p.P128S			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	128					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGAGCAGGGAATGAAGCT	0.602																																						uc010xdi.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(460-462)Cct>Tct		Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 7, mRNA.							182	169	173					18																	47803212		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47803212G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.382C>T	18.37:g.47803212G>A	ENSP00000467017:p.Pro128Ser		Somatic				MBD1_uc002lef.3_5'UTR|MBD1_uc002leg.3_Missense_Mutation_p.P128S|MBD1_uc010dow.2_Missense_Mutation_p.P128S|MBD1_uc010xdj.2_Missense_Mutation_p.P128S|MBD1_uc002lel.4_Missense_Mutation_p.P128S|MBD1_uc002len.3_Missense_Mutation_p.P128S|MBD1_uc002leh.4_Missense_Mutation_p.P128S|MBD1_uc002lei.4_Missense_Mutation_p.P128S|MBD1_uc002lej.4_Missense_Mutation_p.P128S|MBD1_uc002lek.4_Missense_Mutation_p.P128S|MBD1_uc002lem.4_Missense_Mutation_p.P128S|MBD1_uc021ukd.1_Missense_Mutation_p.P128S|MBD1_uc021uke.1_Missense_Mutation_p.P128S|MBD1_uc010xdk.2_Missense_Mutation_p.P128S|MBD1_uc010dox.1_Missense_Mutation_p.P128S|MBD1_uc002leo.2_Missense_Mutation_p.P128S	p.P154S	NM_001204137	NP_001191066	WXS	Illumina GAIIx	Phase_I	Q9UIS9	MBD1_HUMAN			3	551	-			128					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.460C>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053790	0.36277	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95377	-3.69;-3.61;-3.64;-3.69;-3.65;-3.64;-3.66;-3.67;-3.67;-3.63;-3.66;-3.65;-3.64	4.42	4.42	0.53409	.	0.199524	0.36034	N	0.002835	D	0.93959	0.8066	N	0.17082	0.46	0.27315	N	0.957201	P;D;B;B;B;D;B;D;B;D;B	0.89917	0.937;0.998;0.259;0.059;0.36;0.962;0.346;1.0;0.059;0.985;0.044	B;D;B;B;B;P;B;D;B;P;B	0.87578	0.304;0.993;0.099;0.059;0.161;0.741;0.204;0.998;0.059;0.888;0.026	D	0.85517	0.1201	10	0.11794	T	0.64	-3.5405	12.8319	0.57750	0.0:0.0:1.0:0.0	.	128;154;128;128;128;128;128;128;128;128;128	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	S	128;128;128;128;128;128;128;154;128;128;128;128;128	ENSP00000372407:P128S;ENSP00000269469:P128S;ENSP00000342531:P128S;ENSP00000269468:P128S;ENSP00000285102:P128S;ENSP00000409561:P128S;ENSP00000269471:P128S;ENSP00000408846:P154S;ENSP00000339546:P128S;ENSP00000381508:P128S;ENSP00000405268:P128S;ENSP00000381506:P128S;ENSP00000381502:P128S	ENSP00000269468:P128S	P	-	1	0	MBD1	46057210	0.953000	0.32496	0.963000	0.40424	0.339000	0.28857	1.812000	0.38952	2.735000	0.93741	0.655000	0.94253	CCT		0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		70	192	0	0	0	1	0	70	192					A	47803212	G	A	47803212	3	1	163	1	0	0	0	0	1	0	0	0	9342	1232	43	2	1681	2	MBD1	18	47803212	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	14155900	47803212	30274036	80	2893											
ZNF556	80032	broad.mit.edu	37	19	2877814	2877814	+	Silent	SNP	G	G	A	rs377206346		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:2877814G>A	ENST00000307635.2	+	4	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_ENST00000586426.1_Silent_p.P285P	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	286					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(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAGGGAGACCGTATGAGTGCA	0.517													G|||	1	0.000199681	0	0	5008	,	,		21210	0.001		0	False		,,,				2504	0					uc002lwp.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(856-858)ccG>ccA		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.		G		0,4406		0,0,2203	61	55	57		858	-4.3	0.0	19		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF556	NM_024967.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		286/457	2877814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877814G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.858G>A	19.37:g.2877814G>A			Somatic				ZNF556_uc002lwq.3_Silent_p.P285P	p.P286P	NM_024967	NP_079243	WXS	Illumina GAIIx	Phase_I	Q9HAH1	ZN556_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)	3	945	+			286					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.858G>A	CCDS12097.1																																																																																				0.517	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		13	52	0	0	0	1	0	13	52					A	2877814	G	A	2877814	2	1	163	1	0	0	0	0	0	0	0	1	17984	1132	40	1		1	ZNF556	19	2877814	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2877814	56251169	81	2894											
LONP1	257062	broad.mit.edu	37	19	5719905	5719905	+	5'Flank	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:5719905G>A	ENST00000381624.3	+	0	0				LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000590729.1_5'Flank|LONP1_ENST00000593119.1_Intron|CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000360614.3_Missense_Mutation_p.S80L|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000585374.1_Intron	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCGCCCCCCGAGAATGCGCC	0.761																																						uc002mcx.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(238-240)tCg>tTg		Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.							3	6	5					19																	5719905		1821	3705	5526	SO:0001631	upstream_gene_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5719905G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719905G>A	Exception_encountered		Somatic				CATSPERD_uc010duj.1_5'Flank|CATSPERD_uc002mda.3_5'Flank|LONP1_uc002mcy.3_Intron|LONP1_uc010duh.3_5'UTR|LONP1_uc010dui.3_Missense_Mutation_p.S80L|LONP1_uc002mcz.3_Intron	p.S80L	NM_004793	NP_004784	WXS	Illumina GAIIx	Phase_I	P36776	LONM_HUMAN			0	272	-			80					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.239C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047575	0.36085	.	.	ENSG00000196365	ENST00000360614	T	0.18502	2.21	4.2	4.2	0.49525	.	0.160530	0.42294	D	0.000737	T	0.08802	0.0218	N	0.24115	0.695	0.80722	D	1	P;P	0.37997	0.614;0.614	B;B	0.22152	0.038;0.038	T	0.15492	-1.0435	10	0.46703	T	0.11	-2.7961	9.3579	0.38177	0.0:0.0:0.7868:0.2132	.	80;80	E5KMH8;P36776	.;LONM_HUMAN	L	80	ENSP00000353826:S80L	ENSP00000353826:S80L	S	-	2	0	LONP1	5670905	0.999000	0.42202	0.099000	0.21106	0.041000	0.13682	4.286000	0.58995	2.163000	0.67991	0.655000	0.94253	TCG		0.761	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		5	10	0	0	0	1	0	5	10					A	5719905	G	A	5719905	1	1	163	0	1	0	0	0	0	0	0	0	8892	1059	37	1		1	LONP1	19	5719905	5'Flank	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	2842091	5719905	53409078	82	2895											
ARHGEF18	23370	broad.mit.edu	37	19	7533921	7533921	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:7533921G>A	ENST00000359920.6	+	17	3380	c.3127G>A	c.(3127-3129)Gtg>Atg	p.V1043M	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.V885M|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1000P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1043					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 cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCAGGCGGCCGTGCAGCAGCA	0.687																																						uc002mgi.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3127-3129)Gtg>Atg		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.							18	18	18					19																	7533921		2180	4287	6467	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7533921G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3127G>A	19.37:g.7533921G>A	ENSP00000352995:p.Val1043Met		Somatic				ARHGEF18_uc010xjm.1_Missense_Mutation_p.V885M|ARHGEF18_uc002mgh.3_Missense_Mutation_p.V885M|ARHGEF18_uc002mgj.1_Missense_Mutation_p.V680M|ARHGEF18_uc021unt.1_5'Flank	p.V1043M	NM_001130955	NP_056133	WXS	Illumina GAIIx	Phase_I	Q6ZSZ5	ARHGI_HUMAN			16	3380	+		Renal(5;0.0902)	1043					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3127G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317531	0.81469	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.51325	0.71;0.71	5.05	5.05	0.67936	.	0.000000	0.45361	D	0.000367	T	0.62405	0.2425	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.971	T	0.59958	-0.7356	10	0.31617	T	0.26	-35.2916	11.049	0.47876	0.0:0.0:0.8143:0.1857	.	885;1043	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	M	885;1043	ENSP00000319200:V885M;ENSP00000352995:V1043M	ENSP00000319200:V885M	V	+	1	0	ARHGEF18	7439921	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.317000	0.79018	2.352000	0.79861	0.563000	0.77884	GTG		0.687	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		3	10	0	0	0	1	0	3	10					A	7533921	G	A	7533921	3	1	163	1	0	0	0	0	1	0	0	0	901	1145	40	1	3193	1	ARHGEF18	19	7533921	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1814016	7533921	51595062	83	2896											
ICAM1	3383	broad.mit.edu	37	19	10381886	10381886	+	Silent	SNP	C	C	T	rs530490957		TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10381886C>T	ENST00000264832.3	+	1	376	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ICAM1_ENST00000423829.2_Silent_p.L17L|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	17				L -> F (in Ref. 11; AAQ14902). {ECO:0000305}.	adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TGGTCCTGCTCGGGGCTCTGT	0.677																																						uc002mnq.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(49-51)ctC>ctT		Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	Natalizumab(DB00108)|Simvastatin(DB00641)						15	19	18					19																	10381886		2201	4295	6496	SO:0001819	synonymous_variant	3383				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10381886C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.51C>T	19.37:g.10381886C>T			Somatic				ICAM1_uc010xle.1_Silent_p.L17L	p.L17L	NM_000201	NP_000192	WXS	Illumina GAIIx	Phase_I	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		0	370	+			17	L -> F (in Ref. 11; AAQ14902).				B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.51C>T	CCDS12231.1																																																																																				0.677	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			5	19	0	0	0	1	0	5	19					T	10381886	C	T	10381886	2	4	163	1	0	0	0	0	0	0	0	1	7479	871	31	1		1	ICAM1	19	10381886	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2847965	10381886	48747097	84	2897											
ICAM1	3383	broad.mit.edu	37	19	10395810	10395810	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:10395810C>T	ENST00000264832.3	+	7	1771	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Silent_p.V260V|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	482					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ATGAGATTGTCATCATCACTG	0.577																																						uc002mnq.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1444-1446)gtC>gtT		Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	Natalizumab(DB00108)|Simvastatin(DB00641)						96	101	99					19																	10395810		2203	4300	6503	SO:0001819	synonymous_variant	3383				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395810C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1446C>T	19.37:g.10395810C>T			Somatic				ICAM1_uc010xle.1_Silent_p.V260V|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	p.V482V	NM_000201	NP_000192	WXS	Illumina GAIIx	Phase_I	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		6	1765	+			482					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1446C>T	CCDS12231.1																																																																																				0.577	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			23	76	0	0	0	1	0	23	76					T	10395810	C	T	10395810	2	4	163	1	0	0	0	0	0	0	0	1	7479	813	29	2		2	ICAM1	19	10395810	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	13924	10395810	48733173	85	2898											
FARSA	2193	broad.mit.edu	37	19	13041137	13041137	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:13041137C>T	ENST00000314606.4	-	4	421	c.403G>A	c.(403-405)Gag>Aag	p.E135K	CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.E135K|FARSA_ENST00000588025.1_Missense_Mutation_p.E175K	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	135					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGCTGCACCTCATCCTCCATG	0.652																																						uc002mvs.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(403-405)Gag>Aag		Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	L-Phenylalanine(DB00120)						75	66	69					19																	13041137		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13041137C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.403G>A	19.37:g.13041137C>T	ENSP00000320309:p.Glu135Lys		Somatic				FARSA_uc010xmv.1_Missense_Mutation_p.E135K	p.E135K	NM_004461	NP_004452	WXS	Illumina GAIIx	Phase_I	Q9Y285	SYFA_HUMAN			3	451	-			135					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.403G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159426	0.21454	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.64438	-0.1;0.48	5.52	2.04	0.26737	.	0.561755	0.19599	N	0.110422	T	0.39226	0.1070	N	0.25201	0.72	0.18873	N	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.12293	-1.0553	10	0.12103	T	0.63	-0.5167	6.2007	0.20575	0.1961:0.6318:0.0:0.1722	.	135;135;135	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	K	135	ENSP00000320309:E135K;ENSP00000396548:E135K	ENSP00000320309:E135K	E	-	1	0	FARSA	12902137	0.016000	0.18221	0.990000	0.47175	0.985000	0.73830	0.461000	0.21940	1.342000	0.45619	0.563000	0.77884	GAG		0.652	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		25	95	0	0	0	1	0	25	95					T	13041137	C	T	13041137	3	4	163	1	0	0	0	0	1	0	0	0	5679	835	29	2	1163	2	FARSA	19	13041137	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	2645327	13041137	46087846	86	2899											
EMR3	84658	broad.mit.edu	37	19	14736376	14736376	+	Silent	SNP	G	G	A	rs147270469	byFrequency	TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr19:14736376G>A	ENST00000253673.5	-	15	1948	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	EMR3_ENST00000599900.1_Silent_p.I401I|EMR3_ENST00000443157.2_Silent_p.I490I|EMR3_ENST00000344373.4_Silent_p.I564I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	616					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTGATTTTACGATCTCTCTAA	0.403																																						uc002mzi.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1846-1848)atC>atT		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.							232	206	215					19																	14736376		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr19:14736376G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1848C>T	19.37:g.14736376G>A			Somatic				EMR3_uc010dzp.3_Silent_p.I564I|EMR3_uc010xnv.2_Silent_p.I490I	p.I616I	NM_032571	NP_115960	WXS	Illumina GAIIx	Phase_I	Q9BY15	EMR3_HUMAN			14	1996	-			616						Silent	SNP	ENST00000253673.5	37	c.1848C>T	CCDS12315.1																																																																																				0.403	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		18	172	0	0	0	1	0	18	172					A	14736376	G	A	14736376	2	1	163	1	0	0	0	0	0	0	0	1	5106	1048	37	1		1	EMR3	19	14736376	Silent	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	1695239	14736376	44392607	87	2900											
TMEM50B	757	broad.mit.edu	37	21	34837657	34837657	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:34837657C>T	ENST00000542230.2	-	4	486	c.272G>A	c.(271-273)gGa>gAa	p.G91E	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	91						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ACCTGTTCTTCCTAAACAGCC	0.388																																						uc002yrs.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4								Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA.							119	104	109					21																	34837657		2203	4300	6503	SO:0001583	missense	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34837657C>T	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.272G>A	21.37:g.34837657C>T	ENSP00000439768:p.Gly91Glu		Somatic				TMEM50B_uc010gmb.2_Non-coding_Transcript		NM_006134		WXS	Illumina GAIIx	Phase_I	P56557	TM50B_HUMAN			3		-								B2R4L4|D3DSF1|O60537|Q5PY47	RNA	SNP	ENST00000542230.2	37	c.485G>A	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111718	0.94339	.	.	ENSG00000142188	ENST00000542230;ENST00000440644	T	0.31769	1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71839	-0.4471	10	0.52906	T	0.07	-28.8834	18.2871	0.90118	0.0:1.0:0.0:0.0	.	91	P56557	TM50B_HUMAN	E	91	ENSP00000439768:G91E	ENSP00000371390:G91E	G	-	2	0	TMEM50B	33759527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.138000	0.77305	2.605000	0.88082	0.563000	0.77884	GGA		0.388	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			5	82	0	0	0	1	0	5	82					T	34837657	C	T	34837657	3	4	163	1	0	0	0	0	1	0	0	0	16173	855	30	2	220	2	TMEM50B	21	34837657	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08		34837657	13292238	88	2901											
CBR3	874	broad.mit.edu	37	21	37507778	37507778	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr21:37507778G>A	ENST00000290354.5	+	1	569	c.288G>A	c.(286-288)aaG>aaA	p.K96K	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	96					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TCGCCTTCAAGAGTAGGTGCA	0.672																																						uc002yve.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.e1+1		Homo sapiens carbonyl reductase 3 (CBR3), mRNA.							23	29	27					21																	37507778		2203	4299	6502	SO:0001630	splice_region_variant	874					cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity	g.chr21:37507778G>A	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.289+1G>A	21.37:g.37507778G>A			Somatic				CBR3-AS1_uc002yvc.2_Intron|CBR3-AS1_uc002yvd.2_Intron	p.S97_splice	NM_001236	NP_001227	WXS	Illumina GAIIx	Phase_I	O75828	CBR3_HUMAN			1	517	+			97					Q6FHP2	Splice_Site	SNP	ENST00000290354.5	37	c.289_splice	CCDS13642.1																																																																																				0.672	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1		Silent	8	28	0	0	0	1	0	8	28					A	37507778	G	A	37507778	5	1	163	1	0	0	0	0	0	0	1	0	2709	956	33	2	290	2	CBR3	21	37507778	Splice_Site	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08	2670121	37507778	10622117	89	2902											
LOC391322	2952	broad.mit.edu	37	22	24373715	24373715	+	IGR	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr22:24373715G>A	ENST00000248935.5	-	0	1066				KB-226F1.1_ENST00000608619.1_RNA	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN							glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	GGGCACCGCCGAGGACAACCG	0.662									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													uc011ajk.1																			0											c.(214-216)Gag>Aag		Homo sapiens D-dopachrome tautomerase-like (LOC391322), mRNA.							33	41	39					22																	24373715		532	1320	1852	SO:0001628	intergenic_variant	391322		Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML				g.chr22:24373715G>A																													22.37:g.24373715G>A			Somatic					p.E72K	NM_001144931	NP_001138403	WXS	Illumina GAIIx	Phase_I					1	235	+								O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	ENST00000248935.5	37	c.214G>A	CCDS13822.1																																																																																				0.662	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			12	21	0	0	0	1	0	12	21					A	24373715	G	A	24373715	1	1	163	0	1	0	0	0	0	0	0	0	8875	1059	37	1		1	LOC391322	22	24373715	IGR	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		24373715	26930851	90	2903											
FAM116B	414918	broad.mit.edu	37	22	50752658	50752658	+	Silent	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chr22:50752658C>T	ENST00000413817.3	-	13	1187	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	372					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CCAGGGTCTTCAACCTTGAAG	0.642																																						uc011arv.1																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(1114-1116)ttG>ttA		Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.							40	46	44					22																	50752658		1952	4129	6081	SO:0001819	synonymous_variant	414918							g.chr22:50752658C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1116G>A	22.37:g.50752658C>T			Somatic					p.L372L	NM_001001794	NP_001001794	WXS	Illumina GAIIx	Phase_I	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	12	1188	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	372					A6X8I5	Silent	SNP	ENST00000413817.3	37	c.1116G>A	CCDS46732.1																																																																																				0.642	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		6	27	0	0	0	1	0	6	27					T	50752658	C	T	50752658	2	4	163	1	0	0	0	0	0	0	0	1	5408	825	29	2		2	FAM116B	22	50752658	Silent	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	26378943	50752658	551908	91	2904											
ARSH	347527	broad.mit.edu	37	X	2933405	2933405	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:2933405G>A	ENST00000381130.2	+	4	735	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	245					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)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTCCCTCATGCTGAAGGAGG	0.398																																						uc011mhj.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(733-735)atG>atA		Homo sapiens arylsulfatase family, member H (ARSH), mRNA.							83	66	72					X																	2933405		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933405G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.735G>A	X.37:g.2933405G>A	ENSP00000370522:p.Met245Ile		Somatic					p.M245I	NM_001011719	NP_001011719	WXS	Illumina GAIIx	Phase_I	Q5FYA8	ARSH_HUMAN			3	735	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	245						Missense_Mutation	SNP	ENST00000381130.2	37	c.735G>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.414676	0.01145	.	.	ENSG00000205667	ENST00000381130	D	0.98400	-4.91	4.03	1.8	0.24995	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.252892	0.38272	N	0.001758	D	0.90803	0.7112	N	0.04063	-0.285	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.82952	-0.0202	10	0.19590	T	0.45	.	3.4745	0.07579	0.1073:0.3381:0.4101:0.1445	.	245	Q5FYA8	ARSH_HUMAN	I	245	ENSP00000370522:M245I	ENSP00000370522:M245I	M	+	3	0	ARSH	2943405	0.479000	0.25925	0.009000	0.14445	0.251000	0.25915	0.159000	0.16442	0.516000	0.28340	0.556000	0.70494	ATG		0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		13	67	0	0	0	1	0	13	67					A	2933405	G	A	2933405	3	1	163	1	0	0	0	0	1	0	0	0	993	1319	46	2	749	2	ARSH	23	2933405	Missense_Mutation	SNP	G	TCGA-EL-A3CT-01A-12D-A202-08		2933405	152337155	92	2905											
ENOX2	10495	broad.mit.edu	37	X	129799694	129799694	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CT-01A-12D-A202-08	TCGA-EL-A3CT-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afa08b6e-69fb-475a-8f0a-da2e16322f75	6bf93a67-763d-4577-9045-f51320f3a10a	g.chrX:129799694C>T	ENST00000370927.1	-	7	1045	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	ENOX2_ENST00000370935.1_Missense_Mutation_p.A313T|ENOX2_ENST00000394363.1_Missense_Mutation_p.A313T|ENOX2_ENST00000338144.3_Missense_Mutation_p.A342T			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	342					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGCTTGGAGGCGGAATGGTAC	0.488																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1024-1026)Gcc>Acc		Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.							83	54	64					X																	129799694		2203	4299	6502	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129799694C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1024G>A	X.37:g.129799694C>T	ENSP00000359965:p.Ala342Thr		Somatic				ENOX2_uc004evx.3_Missense_Mutation_p.A313T|ENOX2_uc004evy.3_Missense_Mutation_p.A313T|ENOX2_uc004evv.3_Missense_Mutation_p.A169T	p.A342T	NM_182314	NP_006366	WXS	Illumina GAIIx	Phase_I	Q16206	ENOX2_HUMAN			9	1442	-			342					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1024G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463652	0.63513	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.29142	1.58;1.58	5.32	5.32	0.75619	.	0.185241	0.46145	D	0.000307	T	0.24275	0.0588	L	0.29908	0.895	0.40529	D	0.980915	P;P	0.51449	0.945;0.945	P;P	0.44561	0.453;0.453	T	0.01935	-1.1244	9	.	.	.	-8.2313	10.2421	0.43319	0.1968:0.8032:0.0:0.0	.	342;370	Q16206;A4QPE1	ENOX2_HUMAN;.	T	313;313;342;313;370;342;313	ENSP00000337146:A342T;ENSP00000359965:A342T	.	A	-	1	0	ENOX2	129627375	0.985000	0.35326	0.958000	0.39756	0.959000	0.62525	2.646000	0.46630	2.467000	0.83353	0.594000	0.82650	GCC		0.488	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		4	16	0	0	0	1	0	4	16					T	129799694	C	T	129799694	3	4	163	1	0	0	0	0	1	0	0	0	5127	768	27	1	836	1	ENOX2	23	129799694	Missense_Mutation	SNP	C	TCGA-EL-A3CT-01A-12D-A202-08	126866289	129799694	25470866	93	2906											
PRDM16	63976	broad.mit.edu	37	1	3102815	3102815	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:3102815C>T	ENST00000270722.5	+	2	213	c.164C>T	c.(163-165)cCc>cTc	p.P55L	PRDM16_ENST00000378391.2_Missense_Mutation_p.P55L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P55L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P55L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P55L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P55L|PRDM16_ENST00000378398.3_Missense_Mutation_p.P55L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	55					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCCCCCTTCCCCACCAGCGAG	0.662			T	EVI1	"MDS, AML"																																	uc001akf.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(163-165)cCc>cTc		Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.							45	59	54					1																	3102815		2123	4192	6315	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3102815C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.164C>T	1.37:g.3102815C>T	ENSP00000270722:p.Pro55Leu		Somatic				PRDM16_uc001ake.3_Missense_Mutation_p.P55L|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P55L	p.P55L	NM_022114	NP_071397	WXS	Illumina GAIIx	Phase_I	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	1	246	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	55					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.164C>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939386	0.52972	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.1	5.1	0.69264	.	0.000000	0.44688	U	0.000428	T	0.58090	0.2098	L	0.47716	1.5	0.58432	D	0.999996	B;B;D;B	0.76494	0.06;0.099;0.999;0.06	B;B;D;B	0.65323	0.018;0.041;0.934;0.018	T	0.61584	-0.7033	10	0.87932	D	0	.	18.5117	0.90918	0.0:1.0:0.0:0.0	.	55;55;55;55	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	55	ENSP00000426975:P55L;ENSP00000367651:P55L;ENSP00000407968:P55L;ENSP00000405253:P55L;ENSP00000367643:P55L;ENSP00000421400:P55L;ENSP00000270722:P55L	ENSP00000270722:P55L	P	+	2	0	PRDM16	3092675	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.803000	0.55560	2.368000	0.80403	0.561000	0.74099	CCC		0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		24	63	0	0	0	1	0	24	63					T	3102815	C	T	3102815	3	4	164	1	0	0	0	0	1	0	0	0	12457	623	22	2	170	2	PRDM16	1	3102815	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		3102815	246147806	1	2907											
FLG2	388698	broad.mit.edu	37	1	152325310	152325310	+	Missense_Mutation	SNP	G	G	T	rs188198910		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:152325310G>T	ENST00000388718.5	-	3	5024	c.4952C>A	c.(4951-4953)tCt>tAt	p.S1651Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1651					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1651Y(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTGGCTAGATCTCTGTCT	0.512													G|||	1	0.000199681	0	0	5008	,	,		26792	0		0.001	False		,,,				2504	0					uc001ezw.4																			1	Substitution - Missense(1)	p.S1651Y(2)|p.R1650I(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4951-4953)tCt>tAt		Homo sapiens filaggrin family member 2 (FLG2), mRNA.		G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	429	382	398		4952	1.4	0.0	1		398	0,8600		0,0,4300	no	missense	FLG2	NM_001014342.2	144	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	1651/2392	152325310	1,13005	2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325310G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4952C>A	1.37:g.152325310G>T	ENSP00000373370:p.Ser1651Tyr		Somatic				AK056431_uc001ezv.3_Intron	p.S1651Y	NM_001014342	NP_001014364	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5025	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1651					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4952C>A	CCDS30861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.901	1.206774	0.22205	2.27E-4	0.0	ENSG00000143520	ENST00000388718	T	0.35421	1.31	4.56	1.43	0.22495	.	.	.	.	.	T	0.21509	0.0518	L	0.48986	1.54	0.09310	N	1	D	0.59357	0.985	P	0.50970	0.655	T	0.05632	-1.0873	9	0.62326	D	0.03	0.1094	5.648	0.17600	0.0952:0.0:0.5627:0.3421	.	1651	Q5D862	FILA2_HUMAN	Y	1651	ENSP00000373370:S1651Y	ENSP00000373370:S1651Y	S	-	2	0	FLG2	150591934	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.484000	0.22308	0.098000	0.17522	0.549000	0.68633	TCT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		111	298	0	0	0	1	0	111	298					T	152325310	G	T	152325310	3	4	164	1	0	0	0	0	1	0	0	0	5923	942	33	4	2227	4	FLG2	1	152325310	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08	149222495	152325310	96925311	2	2908											
RGS18	64407	broad.mit.edu	37	1	192150498	192150498	+	Silent	SNP	A	A	G			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr1:192150498A>G	ENST00000367460.3	+	4	541	c.360A>G	c.(358-360)gaA>gaG	p.E120E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	120	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGCCTGTGAAGATTTCAAGA	0.313																																						uc001gsg.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(358-360)gaA>gaG		Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.							45	49	47					1																	192150498		2196	4285	6481	SO:0001819	synonymous_variant	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150498A>G	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"Regulators of G-protein signaling"	14261	protein-coding gene	gene with protein product		607192	"regulator of G-protein signalling 18"			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.360A>G	1.37:g.192150498A>G			Somatic					p.E120E	NM_130782	NP_570138	WXS	Illumina GAIIx	Phase_I	Q9NS28	RGS18_HUMAN			3	536	+			120			RGS.		B2RD23	Silent	SNP	ENST00000367460.3	37	c.360A>G	CCDS1374.1																																																																																				0.313	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		3	35	0	0	0	1	0	3	35					G	192150498	A	G	192150498	2	3	164	1	0	0	0	0	0	0	0	1	13300	69	3	3		3	RGS18	1	192150498	Silent	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	39825188	192150498	57100123	3	2909											
TTN	7273	broad.mit.edu	37	2	179436988	179436988	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr2:179436988G>A	ENST00000591111.1	-	276	69172	c.68948C>T	c.(68947-68949)aCt>aTt	p.T22983I	TTN_ENST00000342992.6_Missense_Mutation_p.T22056I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15559I|TTN_ENST00000359218.5_Missense_Mutation_p.T15684I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15751I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24624I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22983	Fibronectin type-III 67. {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)			ATCCATCAAAGTTATTTTTCC	0.468																																						uc021vsy.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.(66166-66168)aCt>aTt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							84	78	80					2																	179436988		1957	4158	6115	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436988G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68948C>T	2.37:g.179436988G>A	ENSP00000465570:p.Thr22983Ile		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15751I|TTN_uc021vta.1_Missense_Mutation_p.T15684I|TTN_uc021vtb.1_Missense_Mutation_p.T15559I	p.T22056I	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	66392	-			22983			Ig-like 115.		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.66167C>T		.	.	.	.	.	.	.	.	.	.	G	14.49	2.551253	0.45383	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74665	0.3746	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.70227	0.968;0.968;0.968;0.959	T	0.74771	-0.3552	9	0.87932	D	0	.	20.4292	0.99080	0.0:0.0:1.0:0.0	.	15559;15684;15751;22983	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	22056;15559;15751;15684;15557	ENSP00000343764:T22056I;ENSP00000434586:T15559I;ENSP00000340554:T15751I;ENSP00000352154:T15684I	ENSP00000340554:T15751I	T	-	2	0	TTN	179145234	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.839000	0.97877	0.650000	0.86243	ACT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	30	0	0	0	1	0	9	30					A	179436988	G	A	179436988	3	1	164	1	0	0	0	0	1	0	0	0	16732	1029	36	2	34256	2	TTN	2	179436988	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		179436988	63762385	4	2910											
DGKQ	1609	broad.mit.edu	37	4	959854	959854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:959854G>A	ENST00000273814.3	-	13	1514	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	481	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)			TGGCTCACCTGCCGCACAGAC	0.662																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1441-1443)Cag>Tag		Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.							28	23	24					4																	959854		2190	4289	6479	SO:0001587	stop_gained	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	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:959854G>A	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1441C>T	4.37:g.959854G>A	ENSP00000273814:p.Gln481*		Somatic				DGKQ_uc010ibn.3_Nonsense_Mutation_p.Q481*	p.Q481*	NM_001347	NP_001338	WXS	Illumina GAIIx	Phase_I	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		12	1515	-			481			Ras-associating.		Q6P3W4	Nonsense_Mutation	SNP	ENST00000273814.3	37	c.1441C>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	36	5.746645	0.96882	.	.	ENSG00000145214	ENST00000273814	.	.	.	4.23	4.23	0.50019	.	0.113517	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.1698	0.65503	0.0:0.0:1.0:0.0	.	.	.	.	X	481	.	ENSP00000273814:Q481X	Q	-	1	0	DGKQ	949854	0.995000	0.38212	0.787000	0.31911	0.253000	0.25986	4.769000	0.62300	2.191000	0.70037	0.651000	0.88453	CAG		0.662	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			5	4	0	0	0	1	0	5	4					A	959854	G	A	959854	4	1	164	1	0	0	0	0	0	1	0	0	4473	1328	46	2	1431	2	DGKQ	4	959854	Nonsense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		959854	190194422	5	2911											
UGT2A1	10941	broad.mit.edu	37	4	70464983	70464983	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr4:70464983G>A	ENST00000503640.1	-	2	900	c.845C>T	c.(844-846)cCt>cTt	p.P282L	UGT2A2_ENST00000457664.2_Missense_Mutation_p.P291L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P492L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P282L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P326L|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	282					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGTTTGGCAGGTTTGCAGTG	0.348																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1474-1476)cCt>cTt		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							63	60	61					4																	70464983		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70464983G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.845C>T	4.37:g.70464983G>A	ENSP00000424478:p.Pro282Leu		Somatic				UGT2A1_uc010ihu.3_Missense_Mutation_p.P326L|UGT2A1_uc003hem.4_Missense_Mutation_p.P282L|UGT2A1_uc010ihs.3_Missense_Mutation_p.P291L|UGT2A1_uc021xox.1_Missense_Mutation_p.P291L|UGT2A1_uc010iht.3_Missense_Mutation_p.P282L	p.P492L	NM_001252274	NP_001239203	WXS	Illumina GAIIx	Phase_I	Q9Y4X1	UD2A1_HUMAN			3	1591	-			282					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1475C>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179821	0.78564	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62639	0.12;0.12;0.09;0.09;0.01	4.64	4.64	0.57946	.	0.058586	0.64402	D	0.000001	T	0.81202	0.4773	M	0.87547	2.89	.	.	.	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;0.989;1.0;0.999;0.999	D	0.85142	0.0981	9	0.56958	D	0.05	.	15.3983	0.74816	0.0:0.0:1.0:0.0	.	492;492;282;291;282	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	L	291;282;282;492;326	ENSP00000387888:P291L;ENSP00000424478:P282L;ENSP00000421432:P282L;ENSP00000425497:P492L;ENSP00000286604:P326L	ENSP00000286604:P326L	P	-	2	0	UGT2A1	70499572	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.215000	0.72206	2.558000	0.86282	0.563000	0.77884	CCT		0.348	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		5	39	0	0	0	1	0	5	39					A	70464983	G	A	70464983	3	1	164	1	0	0	0	0	1	0	0	0	16950	1000	35	2	758	2	UGT2A1	4	70464983	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08	69505129	70464983	120689293	6	2912											
CHCHD2	51142	broad.mit.edu	37	7	56172116	56172116	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr7:56172116G>T	ENST00000395422.3	-	2	265	c.103C>A	c.(103-105)Cca>Aca	p.P35T		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	35						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCGCTGCTGGTGGCTGAGCG	0.597																																						uc003tsa.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(103-105)Cca>Aca		Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.							11	14	13					7																	56172116		2185	4290	6475	SO:0001583	missense	51142					mitochondrion		g.chr7:56172116G>T	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.103C>A	7.37:g.56172116G>T	ENSP00000378812:p.Pro35Thr		Somatic				PSPH_uc003trj.3_Intron	p.P35T	NM_016139	NP_057223	WXS	Illumina GAIIx	Phase_I	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		1	184	-	Breast(14;0.214)		35					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.103C>A	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662628	0.67700	.	.	ENSG00000106153	ENST00000395422	T	0.51325	0.71	5.09	5.09	0.68999	.	0.252596	0.39544	N	0.001332	T	0.69242	0.3089	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.69760	-0.5058	10	0.37606	T	0.19	.	17.6527	0.88169	0.0:0.0:1.0:0.0	.	35	Q9Y6H1	CHCH2_HUMAN	T	35	ENSP00000378812:P35T	ENSP00000378812:P35T	P	-	1	0	CHCHD2	56139610	1.000000	0.71417	0.539000	0.28077	0.994000	0.84299	9.357000	0.97099	2.655000	0.90218	0.655000	0.94253	CCA		0.597	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		4	10	0	0	0	1	0	4	10					T	56172116	G	T	56172116	3	4	164	1	0	0	0	0	1	0	0	0	3316	1261	44	4	364	4	CHCHD2	7	56172116	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		56172116	102966547	7	2913											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	47	0	0	0	1	0	22	47					T	140453136	A	T	140453136	3	4	164	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	84281020	140453136	18685527	8	2914											
FGF20	26281	broad.mit.edu	37	8	16850687	16850687	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:16850687T>C	ENST00000180166.5	-	3	678	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	177					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCTGGCGCCATCTCTTGGAGT	0.428																																						uc003wxc.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11						c.(529-531)gAt>gGt		Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.							186	165	172					8																	16850687		2203	4300	6503	SO:0001583	missense	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850687T>C	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.530A>G	8.37:g.16850687T>C	ENSP00000180166:p.Asp177Gly		Somatic				FGF20_uc010lsw.1_3'UTR	p.D177G	NM_019851	NP_062825	WXS	Illumina GAIIx	Phase_I	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	663	-			177					B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	c.530A>G	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943121	0.73672	.	.	ENSG00000078579	ENST00000180166	T	0.66995	-0.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	L	0.54323	1.7	0.80722	D	1	B	0.26708	0.157	B	0.41646	0.362	T	0.71724	-0.4506	10	0.62326	D	0.03	.	16.5479	0.84454	0.0:0.0:0.0:1.0	.	177	Q9NP95	FGF20_HUMAN	G	177	ENSP00000180166:D177G	ENSP00000180166:D177G	D	-	2	0	FGF20	16895058	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAT		0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			39	91	0	0	0	1	0	39	91					C	16850687	T	C	16850687	3	2	164	1	0	0	0	0	1	0	0	0	5849	1435	50	3	109	3	FGF20	8	16850687	Missense_Mutation	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08		16850687	129513335	9	2915											
ZC3H3	23144	broad.mit.edu	37	8	144548018	144548018	+	Splice_Site	SNP	T	T	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr8:144548018T>A	ENST00000262577.5	-	9	2207	c.2176A>T	c.(2176-2178)Atg>Ttg	p.M726L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	726					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACACCGGCATCTGCAGGGAG	0.652																																						uc003yyd.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.e9-1		Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.							45	37	40					8																	144548018		2203	4300	6503	SO:0001630	splice_region_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144548018T>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2176-1A>T	8.37:g.144548018T>A			Somatic					p.M726_splice	NM_015117	NP_055932	WXS	Illumina GAIIx	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		9	2205	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		726					Q14163|Q8N4E2|Q9BUS4	Splice_Site	SNP	ENST00000262577.5	37	c.2176_splice	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631133	0.67015	.	.	ENSG00000014164	ENST00000262577	T	0.43294	0.95	4.84	4.84	0.62591	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	M	0.82056	2.57	0.58432	D	0.999998	P	0.44986	0.847	P	0.56916	0.809	T	0.68119	-0.5493	10	0.72032	D	0.01	-22.982	14.4022	0.67056	0.0:0.0:0.0:1.0	.	726	Q8IXZ2	ZC3H3_HUMAN	L	726	ENSP00000262577:M726L	ENSP00000262577:M726L	M	-	1	0	ZC3H3	144619161	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	7.599000	0.82757	1.818000	0.53035	0.459000	0.35465	ATG		0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117	Missense_Mutation	3	17	0	0	0	1	0	3	17					A	144548018	T	A	144548018	5	1	164	1	0	0	0	0	0	0	1	0	17566	1449	50	5	686	5	ZC3H3	8	144548018	Splice_Site	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08	127697331	144548018	1816004	10	2916											
PPRC1	23082	broad.mit.edu	37	10	103908243	103908243	+	Silent	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:103908243C>T	ENST00000278070.2	+	10	4554	c.4515C>T	c.(4513-4515)tcC>tcT	p.S1505S	PPRC1_ENST00000370012.1_Silent_p.S472S|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Silent_p.S1241S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1505	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTCACGATCCCCATCCCCCC	0.562																																						uc001kum.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4513-4515)tcC>tcT		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.							120	103	109					10																	103908243		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding	g.chr10:103908243C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4515C>T	10.37:g.103908243C>T			Somatic				PPRC1_uc001kun.3_Silent_p.S1385S|PPRC1_uc010qqj.2_Silent_p.S1241S|PPRC1_uc009xxa.3_Non-coding_Transcript	p.S1505S	NM_015062	NP_055877	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4554	+		Colorectal(252;0.122)	1505			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4515C>T	CCDS7529.1																																																																																				0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		11	90	0	0	0	1	0	11	90					T	103908243	C	T	103908243	2	4	164	1	0	0	0	0	0	0	0	1	12410	610	22	2		2	PPRC1	10	103908243	Silent	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		103908243	31626504	11	2917											
C10orf137	26098	broad.mit.edu	37	10	127408456	127408456	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr10:127408456A>T	ENST00000356792.4	+	1	312	c.80A>T	c.(79-81)cAg>cTg	p.Q27L	RP11-383C5.4_ENST00000423178.2_lincRNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.Q27L|RP11-383C5.5_ENST00000430970.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCTGTCCCAGGGAGAATCC	0.711																																						uc001liq.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(79-81)cAg>cTg		Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.							20	24	22					10																	127408456		2201	4293	6494	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127408456A>T																												ENST00000356792.4:c.80A>T	10.37:g.127408456A>T	ENSP00000349244:p.Gln27Leu		Somatic				FLJ37035_uc001lim.2_5'Flank|C10orf137_uc001lin.3_Missense_Mutation_p.Q27L|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.Q27L	p.Q27L	NM_001202438	NP_001189367	WXS	Illumina GAIIx	Phase_I	Q3B7T1	EDRF1_HUMAN			0	373	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	27					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.80A>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168246	0.57476	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.39229	1.09;1.09	4.42	2.06	0.26882	.	0.389621	0.21139	N	0.079509	T	0.19127	0.0459	N	0.08118	0	0.21782	N	0.999546	B;B;B	0.18310	0.027;0.027;0.001	B;B;B	0.18871	0.023;0.023;0.009	T	0.10917	-1.0609	10	0.49607	T	0.09	.	4.0048	0.09597	0.6737:0.2163:0.11:0.0	.	27;27;27	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	L	27	ENSP00000349244:Q27L;ENSP00000336727:Q27L	ENSP00000336727:Q27L	Q	+	2	0	C10orf137	127398446	0.063000	0.20901	0.969000	0.41365	0.936000	0.57629	0.515000	0.22801	0.800000	0.34041	0.533000	0.62120	CAG		0.711	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			12	20	0	0	0	1	0	12	20					T	127408456	A	T	127408456	3	4	164	1	0	0	0	0	1	0	0	0	1594	188	7	5	82	5	C10orf137	10	127408456	Missense_Mutation	SNP	A	TCGA-EL-A3CU-01A-11D-A19J-08	23500213	127408456	8126291	12	2918											
ALG10B	144245	broad.mit.edu	37	12	38714267	38714267	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr12:38714267G>T	ENST00000308742.4	+	3	990	c.674G>T	c.(673-675)gGa>gTa	p.G225V	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	225					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.G225V(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCTATTAAAGGACCATTTGCA	0.393																																						uc001rln.4																			1	Substitution - Missense(1)	p.G225V(2)	lung(1)	breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(673-675)gGa>gTa		Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.							85	91	89					12																	38714267		2200	4294	6494	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714267G>T	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.674G>T	12.37:g.38714267G>T	ENSP00000310120:p.Gly225Val		Somatic					p.G225V	NM_001013620	NP_001013642	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			2	813	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	225					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.674G>T	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	2.494	-0.316750	0.05386	.	.	ENSG00000175548	ENST00000308742	T	0.30182	1.54	3.09	3.09	0.35607	.	0.242267	0.41294	D	0.000913	T	0.31482	0.0798	M	0.76328	2.33	0.80722	D	1	P	0.39352	0.669	B	0.38106	0.265	T	0.13656	-1.0501	10	0.15952	T	0.53	.	12.4259	0.55546	0.0:0.0:1.0:0.0	.	225	Q5I7T1	AG10B_HUMAN	V	225	ENSP00000310120:G225V	ENSP00000310120:G225V	G	+	2	0	ALG10B	37000534	1.000000	0.71417	0.268000	0.24571	0.099000	0.18886	2.754000	0.47532	2.033000	0.60031	0.549000	0.68633	GGA		0.393	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		8	138	0	0	0	1	0	8	138					T	38714267	G	T	38714267	3	4	164	1	0	0	0	0	1	0	0	0	512	1174	41	4	684	4	ALG10B	12	38714267	Missense_Mutation	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		38714267	95137628	13	2919											
CYB5D1	124637	broad.mit.edu	37	17	7761468	7761468	+	Silent	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr17:7761468C>T	ENST00000332439.4	+	1	168	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575208.1_5'Flank|CYB5D1_ENST00000571846.1_Silent_p.L6L|CYB5D1_ENST00000570446.1_Silent_p.L6L	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	6							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				GCGCCGGGGCCTGGTGGCTGG	0.587																																						uc002gjb.4																			0				breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6						c.(16-18)Ctg>Ttg		Homo sapiens cytochrome b5 domain containing 1 (CYB5D1), mRNA.							73	81	78					17																	7761468		2203	4300	6503	SO:0001819	synonymous_variant	124637						heme binding	g.chr17:7761468C>T	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.16C>T	17.37:g.7761468C>T			Somatic				LSMD1_uc002giz.3_5'Flank|LSMD1_uc002gja.3_5'Flank|CYB5D1_uc021tpi.1_5'Flank	p.L6L	NM_144607	NP_653208	WXS	Illumina GAIIx	Phase_I	Q6P9G0	CB5D1_HUMAN			0	405	+		all_cancers(10;0.11)|Prostate(122;0.219)	6					D3DTQ8|Q96DM7	Silent	SNP	ENST00000332439.4	37	c.16C>T	CCDS11123.1																																																																																				0.587	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607		25	63	0	0	0	1	0	25	63					T	7761468	C	T	7761468	2	4	164	1	0	0	0	0	0	0	0	1	4124	680	24	2		2	CYB5D1	17	7761468	Silent	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		7761468	73433742	14	2920											
MICALL1	85377	broad.mit.edu	37	22	38318081	38318081	+	Silent	SNP	G	G	A			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chr22:38318081G>A	ENST00000215957.6	+	6	798	c.672G>A	c.(670-672)ggG>ggA	p.G224G		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	224	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TGGGCCCGGGGACACGGTCGG	0.652																																						uc003aui.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(670-672)ggG>ggA		Homo sapiens MICAL-like 1 (MICALL1), mRNA.							34	35	35					22																	38318081		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38318081G>A	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.672G>A	22.37:g.38318081G>A			Somatic					p.G224G	NM_033386	NP_203744	WXS	Illumina GAIIx	Phase_I	Q8N3F8	MILK1_HUMAN			5	947	+	Melanoma(58;0.045)		224			LIM zinc-binding.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.672G>A	CCDS13961.1																																																																																				0.652	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		4	40	0	0	0	1	0	4	40					A	38318081	G	A	38318081	2	1	164	1	0	0	0	0	0	0	0	1	9573	1161	41	2		2	MICALL1	22	38318081	Silent	SNP	G	TCGA-EL-A3CU-01A-11D-A19J-08		38318081	12986485	15	2921											
MORF4L2	9643	broad.mit.edu	37	X	102931475	102931475	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:102931475C>T	ENST00000441076.2	-	4	785	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MORF4L2_ENST00000422154.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000423833.2_Missense_Mutation_p.E161K|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E161K|MORF4L2_ENST00000492116.1_5'Flank	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	161	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTGCATACTCCTCCAGAATT	0.388																																						uc004ekw.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(481-483)Gag>Aag		Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.							139	138	138					X																	102931475		2203	4300	6503	SO:0001583	missense	9643				DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931475C>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.481G>A	X.37:g.102931475C>T	ENSP00000391969:p.Glu161Lys		Somatic				MORF4L2_uc004ela.3_Missense_Mutation_p.E161K|MORF4L2_uc004elb.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekx.3_Missense_Mutation_p.E161K|MORF4L2_uc004eky.3_Missense_Mutation_p.E161K|MORF4L2_uc010nos.3_Missense_Mutation_p.E161K|MORF4L2_uc004ekz.3_Missense_Mutation_p.E161K|MORF4L2_uc011mry.2_Missense_Mutation_p.E161K|MORF4L2_uc011mrz.2_Missense_Mutation_p.E161K|MORF4L2_uc004elc.3_Missense_Mutation_p.E161K|MORF4L2_uc004ele.3_Missense_Mutation_p.E161K|MORF4L2_uc004elf.3_Missense_Mutation_p.E161K|MORF4L2_uc011msa.2_Missense_Mutation_p.E161K|MORF4L2_uc011msb.2_Missense_Mutation_p.E161K|MORF4L2_uc011msc.2_Missense_Mutation_p.E161K|MORF4L2_uc011msd.2_Missense_Mutation_p.E161K|MORF4L2_uc004eld.3_Missense_Mutation_p.E161K|MORF4L2_uc022cbw.1_Missense_Mutation_p.E161K	p.E161K	NM_012286	NP_036418	WXS	Illumina GAIIx	Phase_I	Q15014	MO4L2_HUMAN			3	1713	-			161					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.481G>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569705	0.45798	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819	T;T;T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02	4.79	4.79	0.61399	.	0.147155	0.64402	D	0.000012	T	0.06600	0.0169	N	0.24115	0.695	0.58432	D	0.999992	P	0.36837	0.571	B	0.35114	0.196	T	0.47971	-0.9075	10	0.24483	T	0.36	-10.4886	14.5691	0.68200	0.0:1.0:0.0:0.0	.	161	Q15014	MO4L2_HUMAN	K	161;43;161;161;161;143;161;161;161;161	ENSP00000353643:E161K;ENSP00000361703:E43K;ENSP00000415476:E161K;ENSP00000394417:E161K;ENSP00000410532:E161K;ENSP00000391969:E161K;ENSP00000416120:E161K;ENSP00000413664:E161K;ENSP00000393283:E161K	ENSP00000353643:E161K	E	-	1	0	MORF4L2	102818131	1.000000	0.71417	0.975000	0.42487	0.446000	0.32137	5.815000	0.69215	2.618000	0.88619	0.600000	0.82982	GAG		0.388	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		61	158	0	0	0	1	0	61	158					T	102931475	C	T	102931475	3	4	164	1	0	0	0	0	1	0	0	0	9707	864	30	2	389	2	MORF4L2	23	102931475	Missense_Mutation	SNP	C	TCGA-EL-A3CU-01A-11D-A19J-08		102931475	52339085	16	2922											
GPR119	139760	broad.mit.edu	37	X	129519127	129519127	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CU-01A-11D-A19J-08	TCGA-EL-A3CU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fbab446-f05f-4385-ac05-7566aa524929	e62e18f2-a371-4ed6-99d9-7c9e705a81a7	g.chrX:129519127T>G	ENST00000276218.2	-	1	384	c.295A>C	c.(295-297)Atc>Ctc	p.I99L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	99					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TCAAAGGTGATCAGCATGACC	0.592																																						uc011muv.2																			0		p.I99M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(295-297)Atc>Ctc		Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.							129	126	127					X																	129519127		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519127T>G	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.295A>C	X.37:g.129519127T>G	ENSP00000276218:p.Ile99Leu		Somatic					p.I99L	NM_178471	NP_848566	WXS	Illumina GAIIx	Phase_I	Q8TDV5	GP119_HUMAN			0	385	-			99					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.295A>C	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851536	0.71719	.	.	ENSG00000147262	ENST00000276218	T	0.79141	-1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.065684	0.64402	D	0.000014	D	0.83151	0.5192	M	0.75615	2.305	0.43846	D	0.996432	D	0.57899	0.981	P	0.58077	0.832	D	0.84217	0.0459	10	0.59425	D	0.04	-12.0252	7.9914	0.30242	0.0:0.0957:0.0:0.9043	.	99	Q8TDV5	GP119_HUMAN	L	99	ENSP00000276218:I99L	ENSP00000276218:I99L	I	-	1	0	GPR119	129346808	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.434000	0.52841	1.872000	0.54250	0.417000	0.27973	ATC		0.592	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		52	114	0	0	0	1	0	52	114					G	129519127	T	G	129519127	3	3	164	1	0	0	0	0	1	0	0	0	6634	1435	50	5	716	5	GPR119	23	129519127	Missense_Mutation	SNP	T	TCGA-EL-A3CU-01A-11D-A19J-08	26587652	129519127	25751433	17	2923											
SCN3A	6328	broad.mit.edu	37	2	166027021	166027021	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr2:166027021C>T	ENST00000360093.3	-	4	793	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R101Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R101Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	101					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R101L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCACTGAATCGGAAAATTGC	0.308																																						uc002ucx.3																			2	Substitution - Missense(2)	p.R101L(3)	lung(2)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(301-303)cGa>cAa		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						51	52	52					2																	166027021		2203	4293	6496	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166027021C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.302G>A	2.37:g.166027021C>T	ENSP00000353206:p.Arg101Gln		Somatic				SCN3A_uc002ucy.3_Missense_Mutation_p.R101Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R101Q|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	p.R101Q	NM_006922	NP_008853	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			3	794	-			101					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.719825	0.89205	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.97831	-4.55;-4.56;-4.51;-4.34;-3.76	4.97	4.97	0.65823	.	0.000000	0.47093	D	0.000253	D	0.99152	0.9707	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.76575	0.988;0.982;0.986	D	0.99194	1.0871	10	0.87932	D	0	.	18.5973	0.91234	0.0:1.0:0.0:0.0	.	101;101;101	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	Q	101	ENSP00000353206:R101Q;ENSP00000283254:R101Q;ENSP00000386726:R101Q;ENSP00000403348:R101Q;ENSP00000391569:R101Q	ENSP00000283254:R101Q	R	-	2	0	SCN3A	165735267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.443000	0.82685	0.650000	0.86243	CGA		0.308	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	40	0	0	0	1	0	6	40					T	166027021	C	T	166027021	3	4	165	1	0	0	0	0	1	0	0	0	13918	884	31	1	5896	1	SCN3A	2	166027021	Missense_Mutation	SNP	C	TCGA-EL-A3CV-01A-11D-A19J-08		166027021	77172352	1	2924											
TRANK1	9881	broad.mit.edu	37	3	36872912	36872912	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr3:36872912C>T	ENST00000429976.2	-	21	8277	c.8030G>A	c.(8029-8031)cGg>cAg	p.R2677Q	TRANK1_ENST00000301807.6_Missense_Mutation_p.R2127Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.R2127Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2677							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCAACTTCCGCTGTATGGA	0.577																																						uc003cgj.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(8029-8031)cGg>cAg		Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.							58	59	59					3																	36872912		2080	4211	6291	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872912C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8030G>A	3.37:g.36872912C>T	ENSP00000416168:p.Arg2677Gln		Somatic					p.R2677Q	NM_014831	NP_055646	WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			20	8278	-			2677					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.8030G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449938	0.26074	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37058	1.22;1.65;1.22	5.49	2.76	0.32466	.	0.229316	0.31145	N	0.008161	T	0.20170	0.0485	N	0.20986	0.625	0.09310	N	1	B	0.26002	0.139	B	0.13407	0.009	T	0.17137	-1.0379	10	0.20046	T	0.44	.	9.0459	0.36347	0.0:0.7193:0.0:0.2807	.	2677	O15050	TRNK1_HUMAN	Q	2127;2677;2127	ENSP00000416826:R2127Q;ENSP00000416168:R2677Q;ENSP00000301807:R2127Q	ENSP00000301807:R2127Q	R	-	2	0	TRANK1	36847916	0.146000	0.22672	0.084000	0.20598	0.382000	0.30200	0.250000	0.18235	0.392000	0.25172	0.561000	0.74099	CGG		0.577	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	12	0	0	0	1	0	5	12					T	36872912	C	T	36872912	3	4	165	1	0	0	0	0	1	0	0	0	16451	652	23	1	759	1	TRANK1	3	36872912	Missense_Mutation	SNP	C	TCGA-EL-A3CV-01A-11D-A19J-08		36872912	161149518	2	2925											
PTCD2	79810	broad.mit.edu	37	5	71638813	71638813	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr5:71638813A>G	ENST00000380639.5	+	8	794	c.778A>G	c.(778-780)Att>Gtt	p.I260V	PTCD2_ENST00000503868.1_Missense_Mutation_p.I151V|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.I88V	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	260					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AGCTGTGTCCATTTTTTCTCA	0.313																																						uc003kcb.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(778-780)Att>Gtt		Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.							79	76	77					5																	71638813		2203	4297	6500	SO:0001583	missense	79810							g.chr5:71638813A>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.778A>G	5.37:g.71638813A>G	ENSP00000370013:p.Ile260Val		Somatic				PTCD2_uc011csf.1_Missense_Mutation_p.I70V|PTCD2_uc003kcc.3_Missense_Mutation_p.I108V|PTCD2_uc011csg.2_Missense_Mutation_p.I88V|PTCD2_uc011csh.2_Missense_Mutation_p.I151V|PTCD2_uc003kcd.3_Non-coding_Transcript	p.I260V	NM_024754	NP_079030	WXS	Illumina GAIIx	Phase_I	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	7	788	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	260					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.778A>G	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675508	0.29783	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.3	4.13	0.48395	.	0.339502	0.31673	N	0.007249	T	0.35128	0.0921	M	0.76574	2.34	0.24533	N	0.994108	P;P;B	0.42871	0.792;0.571;0.278	B;B;B	0.37601	0.254;0.173;0.084	T	0.27905	-1.0060	10	0.20519	T	0.43	.	5.1549	0.15029	0.7542:0.0:0.0878:0.158	.	151;88;260	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	V	260;151;89;88	ENSP00000370013:I260V;ENSP00000427349:I151V;ENSP00000426295:I89V;ENSP00000444772:I88V	ENSP00000308948:I260V	I	+	1	0	PTCD2	71674569	0.777000	0.28628	1.000000	0.80357	0.621000	0.37620	0.988000	0.29616	2.017000	0.59298	0.377000	0.23210	ATT		0.313	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		14	39	0	0	0	1	0	14	39					G	71638813	A	G	71638813	3	3	165	1	0	0	0	0	1	0	0	0	12728	217	8	3	808	3	PTCD2	5	71638813	Missense_Mutation	SNP	A	TCGA-EL-A3CV-01A-11D-A19J-08		71638813	109276447	3	2926											
ZKSCAN3	80317	broad.mit.edu	37	6	28333660	28333660	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:28333660G>T	ENST00000377255.3	+	7	1512	c.1215G>T	c.(1213-1215)aaG>aaT	p.K405N	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K257N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K405N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	405					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						ACTGTGGGAAGACCTTCAGCC	0.507																																						uc010jrc.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1213-1215)aaG>aaT		Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.							81	80	81					6																	28333660		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333660G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1215G>T	6.37:g.28333660G>T	ENSP00000366465:p.Lys405Asn		Somatic				ZKSCAN3_uc003nle.4_Missense_Mutation_p.K405N|ZKSCAN3_uc003nlf.4_Missense_Mutation_p.K257N	p.K405N	NM_001242894	NP_001229823	WXS	Illumina GAIIx	Phase_I	Q9BRR0	ZKSC3_HUMAN			6	1548	+			405					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.1215G>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.054040	0.55218	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.27890	1.64;1.64;1.64	3.97	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47691	0.1459	M	0.92219	3.285	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.49707	-0.8911	9	0.87932	D	0	.	12.1222	0.53897	0.8077:0.0:0.1923:0.0	.	405	Q9BRR0	ZKSC3_HUMAN	N	405;257;405	ENSP00000252211:K405N;ENSP00000341883:K257N;ENSP00000366465:K405N	ENSP00000252211:K405N	K	+	3	2	ZKSCAN3	28441639	0.000000	0.05858	0.957000	0.39632	0.991000	0.79684	-0.662000	0.05305	-0.510000	0.06523	0.655000	0.94253	AAG		0.507	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		21	60	0	0	0	1	0	21	60					T	28333660	G	T	28333660	3	4	165	1	0	0	0	0	1	0	0	0	17685	933	33	4	1233	4	ZKSCAN3	6	28333660	Missense_Mutation	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08		28333660	142781407	4	2927											
CNR1	1268	broad.mit.edu	37	6	88854344	88854344	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:88854344G>T	ENST00000537554.1	-	2	4212	c.650C>A	c.(649-651)tCc>tAc	p.S217Y	CNR1_ENST00000468898.1_Missense_Mutation_p.S184Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S217Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S217Y|CNR1_ENST00000369501.2_Missense_Mutation_p.S217Y|CNR1_ENST00000369499.2_Missense_Mutation_p.S217Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.S156Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S217Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CCTGTGAATGGATATGTACCT	0.577																																						uc010kbz.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(649-651)tCc>tAc		Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						41	42	42					6																	88854344		2203	4299	6502	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854344G>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.650C>A	6.37:g.88854344G>T	ENSP00000441046:p.Ser217Tyr		Somatic				CNR1_uc011dzr.2_Missense_Mutation_p.S217Y|CNR1_uc011dzs.2_Missense_Mutation_p.S217Y|CNR1_uc003pmq.4_Missense_Mutation_p.S217Y|CNR1_uc011dzt.2_Missense_Mutation_p.S217Y|CNR1_uc010kca.3_Missense_Mutation_p.S184Y|CNR1_uc021zco.1_Missense_Mutation_p.S217Y	p.S217Y	NM_016083	NP_057167	WXS	Illumina GAIIx	Phase_I	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	1	780	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	217					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.650C>A	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592815	0.46214	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.9	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.99	T	0.68941	-0.5276	10	0.87932	D	0	.	17.0836	0.86604	0.0:0.1269:0.8731:0.0	.	184;217	P21554-3;P21554	.;CNR1_HUMAN	Y	217;217;217;217;217;184;217;156	ENSP00000358513:S217Y;ENSP00000442689:S217Y;ENSP00000441046:S217Y;ENSP00000358511:S217Y;ENSP00000446819:S217Y;ENSP00000420188:S184Y;ENSP00000412192:S217Y;ENSP00000449549:S156Y	ENSP00000358511:S217Y	S	-	2	0	CNR1	88911063	1.000000	0.71417	0.962000	0.40283	0.480000	0.33159	9.869000	0.99810	1.488000	0.48433	-0.175000	0.13238	TCC		0.577	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			10	40	0	0	0	1	0	10	40					T	88854344	G	T	88854344	3	4	165	1	0	0	0	0	1	0	0	0	3631	1174	41	4	772	4	CNR1	6	88854344	Missense_Mutation	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08	60520684	88854344	82260723	5	2928											
ZBTB24	9841	broad.mit.edu	37	6	109787075	109787075	+	Silent	SNP	T	T	A			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr6:109787075T>A	ENST00000230122.3	-	7	2240	c.2073A>T	c.(2071-2073)ccA>ccT	p.P691P	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	691					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CCTGGCCAAGTGGCGTTGGCT	0.537																																						uc003ptl.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(2071-2073)ccA>ccT		Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.							110	107	108					6																	109787075		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787075T>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.2073A>T	6.37:g.109787075T>A			Somatic				MICAL1_uc011eaq.2_5'UTR|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Silent_p.P635P|ZBTB24_uc010kdt.1_Non-coding_Transcript	p.P691P	NM_014797	NP_055612	WXS	Illumina GAIIx	Phase_I	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	6	2241	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	691					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.2073A>T	CCDS34509.1																																																																																				0.537	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		12	46	0	0	0	1	0	12	46					A	109787075	T	A	109787075	2	1	165	1	0	0	0	0	0	0	0	1	17528	1683	59	5		5	ZBTB24	6	109787075	Silent	SNP	T	TCGA-EL-A3CV-01A-11D-A19J-08	20932731	109787075	61327992	6	2929											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	56	0	0	0	1	0	12	56					T	140453136	A	T	140453136	3	4	165	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CV-01A-11D-A19J-08		140453136	18685527	7	2930											
CHCHD10	400916	broad.mit.edu	37	22	24109618	24109618	+	Silent	SNP	G	G	A			TCGA-EL-A3CV-01A-11D-A19J-08	TCGA-EL-A3CV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1753e9c-29d0-4955-89d2-949cdabd1211	48b6e8f8-3784-4f66-892f-5c294e06c306	g.chr22:24109618G>A	ENST00000484558.2	-	2	772	c.204C>T	c.(202-204)gcC>gcT	p.A68A	CHCHD10_ENST00000401675.3_Silent_p.A68A|CHCHD10_ENST00000520222.1_Intron			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	68					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						CTCCGGTCAGGGCGCTGCCCA	0.692																																						uc002zxw.3																			0				large_intestine(2)|lung(1)	3						c.(202-204)gcC>gcT		Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10), mRNA.							8	8	8					22																	24109618		2178	4262	6440	SO:0001819	synonymous_variant	400916					mitochondrion		g.chr22:24109618G>A	AB050774	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479		"Coiled-coil-helix-coiled-coil-helix domain containing"	15559	protein-coding gene	gene with protein product		615903	"chromosome 22 open reading frame 16"	C22orf16			Standard	XM_006724241		Approved	N27C7-4	uc002zxw.3	Q8WYQ3	OTTHUMG00000150736	ENST00000484558.2:c.204C>T	22.37:g.24109618G>A			Somatic					p.A68A	NM_213720	NP_998885	WXS	Illumina GAIIx	Phase_I	Q8WYQ3	CHC10_HUMAN			1	284	-			68					A8K0J5	Silent	SNP	ENST00000484558.2	37	c.204C>T	CCDS13815.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090009	0.36855	.	.	ENSG00000250479	ENST00000521886	.	.	.	3.66	1.51	0.23008	.	.	.	.	.	T	0.63034	0.2477	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62642	-0.6811	5	0.87932	D	0	-15.7957	8.0328	0.30476	0.2161:0.0:0.7839:0.0	.	.	.	.	S	35	.	ENSP00000429976:P51S	P	-	1	0	CHCHD10	22439618	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.416000	0.21198	0.334000	0.23590	0.306000	0.20318	CCT		0.692	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319870.2	NM_213720		2	3	0	0	0	1	0	2	3					A	24109618	G	A	24109618	2	1	165	1	0	0	0	0	0	0	0	1	3315	1219	43	2		2	CHCHD10	22	24109618	Silent	SNP	G	TCGA-EL-A3CV-01A-11D-A19J-08		24109618	27194948	8	2931											
MPZ	4359	broad.mit.edu	37	1	161279666	161279666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr1:161279666delG	ENST00000533357.1	-	1	96	c.30delC	c.(28-30)cccfs	p.P10fs	MPZ_ENST00000336559.4_Frame_Shift_Del_p.P10fs|MPZ_ENST00000360451.6_Frame_Shift_Del_p.P20fs|MPZ_ENST00000526189.1_5'Flank|MPZ_ENST00000491222.2_5'Flank	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	10					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGATAGGGCTGGGGCTGGATG	0.617																																						uc001gaf.4																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(28-30)cccfs		Homo sapiens myelin protein zero (MPZ), mRNA.							16	17	17					1																	161279666		2199	4293	6492	SO:0001589	frameshift_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161279666delG	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"Immunoglobulin superfamily / V-set domain containing"	7225	protein-coding gene	gene with protein product		159440	"Charcot-Marie-Tooth neuropathy 1B"	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.30delC	1.37:g.161279666delG	ENSP00000432943:p.Pro10fs		Somatic					p.P10fs	NM_000530	NP_000521	WXS	Illumina GAIIx	Phase_I	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		0	97	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	10					Q16072|Q5VTH4|Q92677|Q9BR67	Frame_Shift_Del	DEL	ENST00000533357.1	37	c.30delC	CCDS1229.2																																																																																				0.617	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		2	4						2	4	---	---	---	---	-	161279666	G	-	161279666	7	5	166	1	0	1	0	1	0	0	0	0	9748	1335	47	0	740	0	MPZ	1	161279666	Frame_Shift_Del	DEL	G	TCGA-EL-A3CW-01A-11D-A19J-08		161279666	87970955	1	2932											
TMEM161B	153396	broad.mit.edu	37	5	87493539	87493539	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr5:87493539T>C	ENST00000296595.6	-	11	1257	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	TMEM161B_ENST00000511218.1_Missense_Mutation_p.Y169C|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.Y378C|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000512429.1_Missense_Mutation_p.Y367C	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	378						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGGCGCCACATACTGCAGTGC	0.423																																						uc003kjc.3																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(1132-1134)tAt>tGt		Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.							135	135	135					5																	87493539		2203	4300	6503	SO:0001583	missense	153396					integral to membrane		g.chr5:87493539T>C	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1133A>G	5.37:g.87493539T>C	ENSP00000296595:p.Tyr378Cys		Somatic				TMEM161B_uc011cty.2_Missense_Mutation_p.Y367C|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctx.2_Missense_Mutation_p.Y169C	p.Y378C	NM_153354	NP_699185	WXS	Illumina GAIIx	Phase_I	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	10	1258	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	378					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.1133A>G	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774543	0.90108	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000511218;ENST00000512429	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82579	-0.0387	9	0.87932	D	0	-39.462	16.3839	0.83495	0.0:0.0:0.0:1.0	.	169;378	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	C	378;378;169;367	.	ENSP00000296595:Y378C	Y	-	2	0	TMEM161B	87529295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.258000	0.74832	0.533000	0.62120	TAT		0.423	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		4	85	0	0	0	1	0	4	85					C	87493539	T	C	87493539	3	2	166	1	0	0	0	0	1	0	0	0	16074	1406	49	3	338	3	TMEM161B	5	87493539	Missense_Mutation	SNP	T	TCGA-EL-A3CW-01A-11D-A19J-08		87493539	93421721	2	2933											
SOX4	6659	broad.mit.edu	37	6	21595266	21595267	+	In_Frame_Ins	INS	-	-	GGC	rs564094826	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr6:21595266_21595267insGGC	ENST00000244745.1	+	1	1295_1296	c.501_502insGGC	c.(502-504)ggc>GGCggc	p.168_168G>GG	SOX4_ENST00000543472.1_In_Frame_Ins_p.168_168G>GG	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	168					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			gcggccatgggggcggcggcgg	0.738														127	0.0253594	0.0923	0.0043	5008	,	,		7118	0		0.002	False		,,,				2504	0					uc003ndi.3																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(499-504)insGGC		Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.																																				SO:0001652	inframe_insertion	6659				DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding	g.chr6:21595266_21595267insGGC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.514_516dupGGC	6.37:g.21595273_21595275dupGGC	ENSP00000244745:p.Gly173dup		Somatic					p.173_174insG	NM_003107	NP_003098	WXS	Illumina GAIIx	Phase_I	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		0	1295_1296	+	Ovarian(93;0.163)		173						In_Frame_Ins	INS	ENST00000244745.1	37	c.501_502insGGC	CCDS4547.1																																																																																				0.738	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		3	5						3	5	---	---	---	---	GGC	21595267	-	GGC	21595266	7	5	166	1	0	1	1	0	0	0	0	0	14953	1219	43	0	503	0	SOX4	6	21595266	In_Frame_Ins	INS	-	TCGA-EL-A3CW-01A-11D-A19J-08		21595266	149519801	3	2934											
YWHAG	7532	broad.mit.edu	37	7	75959220	75959220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:75959220C>A	ENST00000307630.3	-	2	640	c.418G>T	c.(418-420)Gga>Tga	p.G140*		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	140					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTTTCTCTCCGGTGGCCACT	0.562																																						uc011kgj.1																			0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(418-420)Gga>Tga		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.							137	137	137					7																	75959220		2203	4300	6503	SO:0001587	stop_gained	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959220C>A	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.418G>T	7.37:g.75959220C>A	ENSP00000306330:p.Gly140*		Somatic					p.G140*	NM_012479	NP_036611	WXS	Illumina GAIIx	Phase_I	P61981	1433G_HUMAN			1	635	-			140					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Nonsense_Mutation	SNP	ENST00000307630.3	37	c.418G>T	CCDS5584.1	.	.	.	.	.	.	.	.	.	.	C	37	6.109776	0.97291	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2853	0.90112	0.0:1.0:0.0:0.0	.	.	.	.	X	140;118;100	.	ENSP00000306330:G140X	G	-	1	0	YWHAG	75797156	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.616000	0.83018	2.793000	0.96121	0.650000	0.86243	GGA		0.562	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	NM_012479		7	143	0	0	0	1	0	7	143					A	75959220	C	A	75959220	4	1	166	1	0	0	0	0	0	1	0	0	17500	661	23	4	329	4	YWHAG	7	75959220	Nonsense_Mutation	SNP	C	TCGA-EL-A3CW-01A-11D-A19J-08		75959220	83179443	4	2935											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		3	74	0	0	0	1	0	3	74					T	140453136	A	T	140453136	3	4	166	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3CW-01A-11D-A19J-08	64493916	140453136	18685527	5	2936											
AP3M1	26985	broad.mit.edu	37	10	75883629	75883629	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr10:75883629T>C	ENST00000355264.4	-	9	1507	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	RP11-178G16.5_ENST00000599110.1_lincRNA|AP3M1_ENST00000372745.1_Missense_Mutation_p.Y399C	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	399	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AAATGGCTTATATTTCTCCCC	0.363																																						uc001jwf.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(1195-1197)tAt>tGt		Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.							206	188	194					10																	75883629		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding	g.chr10:75883629T>C	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.1196A>G	10.37:g.75883629T>C	ENSP00000347408:p.Tyr399Cys		Somatic				AP3M1_uc001jwg.3_Missense_Mutation_p.Y399C|AP3M1_uc001jwh.3_Missense_Mutation_p.Y399C|AP3M1_uc010qla.2_Missense_Mutation_p.Y345C	p.Y399C	NM_207012	NP_996895	WXS	Illumina GAIIx	Phase_I	Q9Y2T2	AP3M1_HUMAN			8	1626	-	Prostate(51;0.0112)		399			MHD.		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.1196A>G	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.823571	0.71143	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.23552	1.9;1.9	5.8	4.63	0.57726	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.70124	-0.4958	10	0.87932	D	0	-7.5238	12.3787	0.55295	0.1257:0.0:0.0:0.8742	.	345;399	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	C	399	ENSP00000347408:Y399C;ENSP00000361831:Y399C	ENSP00000347408:Y399C	Y	-	2	0	AP3M1	75553635	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.915000	0.69973	2.216000	0.71823	0.533000	0.62120	TAT		0.363	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			9	189	0	0	0	1	0	9	189					C	75883629	T	C	75883629	3	2	166	1	0	0	0	0	1	0	0	0	747	1406	49	3	64	3	AP3M1	10	75883629	Missense_Mutation	SNP	T	TCGA-EL-A3CW-01A-11D-A19J-08		75883629	59651118	6	2937											
ITPR2	3709	broad.mit.edu	37	12	26572040	26572040	+	Missense_Mutation	SNP	G	G	A	rs372121234	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:26572040G>A	ENST00000381340.3	-	50	7468	c.7052C>T	c.(7051-7053)gCg>gTg	p.A2351V	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2351					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)	CAGGACATACGCCACGTGATA	0.448													G|||	3	0.000599042	0.0023	0	5008	,	,		18574	0		0	False		,,,				2504	0					uc001rhg.3																		ETV6/ITPR2(2)	0		p.V2350M(1)		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.(7051-7053)gCg>gTg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.		G	VAL/ALA	1,4061		0,1,2030	89	97	95		7052	4.3	0.5	12		95	1,8375		0,1,4187	no	missense	ITPR2	NM_002223.2	64	0,2,6217	AA,AG,GG		0.0119,0.0246,0.0161	benign	2351/2702	26572040	2,12436	2031	4188	6219	SO:0001583	missense	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.chr12:26572040G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7052C>T	12.37:g.26572040G>A	ENSP00000370744:p.Ala2351Val		Somatic				ITPR2_uc009zjg.1_Missense_Mutation_p.A502V	p.A2351V	NM_002223	NP_002214	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			49	7469	-	Colorectal(261;0.0847)		2351					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7052C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	3.998	-0.003084	0.07773	2.46E-4	1.19E-4	ENSG00000123104	ENST00000381340	D	0.98178	-4.77	5.22	4.31	0.51392	Ion transport (1);	0.265675	0.37530	N	0.002051	D	0.94066	0.8098	L	0.31664	0.95	0.09310	N	0.999997	B	0.13145	0.007	B	0.15484	0.013	T	0.82135	-0.0607	10	0.10377	T	0.69	.	9.0202	0.36195	0.2156:0.0:0.7844:0.0	.	2351	Q14571	ITPR2_HUMAN	V	2351	ENSP00000370744:A2351V	ENSP00000370744:A2351V	A	-	2	0	ITPR2	26463307	0.001000	0.12720	0.524000	0.27887	0.944000	0.59088	1.196000	0.32198	2.716000	0.92895	0.655000	0.94253	GCG		0.448	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	59	0	0	0	1	0	4	59					A	26572040	G	A	26572040	3	1	166	1	0	0	0	0	1	0	0	0	7921	1087	38	1	1085	1	ITPR2	12	26572040	Missense_Mutation	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08		26572040	107279855	7	2938											
RPAP3	79657	broad.mit.edu	37	12	48091473	48091473	+	Silent	SNP	G	G	A	rs150350108		TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr12:48091473G>A	ENST00000005386.3	-	4	439	c.324C>T	c.(322-324)gaC>gaT	p.D108D	RPAP3_ENST00000380650.4_Silent_p.D108D|RPAP3_ENST00000432584.3_De_novo_Start_OutOfFrame	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	108										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GGGTACTATCGTCTTTGTCAA	0.353																																						uc001rpr.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(322-324)gaC>gaT		Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.							104	104	104					12																	48091473		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48091473G>A	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.324C>T	12.37:g.48091473G>A			Somatic				RPAP3_uc010slk.2_5'UTR|RPAP3_uc001rps.3_Silent_p.D108D	p.D108D	NM_024604	NP_001139548	WXS	Illumina GAIIx	Phase_I	Q9H6T3	RPAP3_HUMAN			3	440	-	Lung SC(27;0.192)		108					B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.324C>T	CCDS8753.1																																																																																				0.353	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		8	99	0	0	0	1	0	8	99					A	48091473	G	A	48091473	2	1	166	1	0	0	0	0	0	0	0	1	13543	1136	40	1		1	RPAP3	12	48091473	Silent	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08	21519433	48091473	85760422	8	2939											
C19orf44	84167	broad.mit.edu	37	19	16614022	16614022	+	Silent	SNP	C	C	T	rs138964724	byFrequency	TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr19:16614022C>T	ENST00000221671.3	+	3	1062	c.906C>T	c.(904-906)caC>caT	p.H302H	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.H302H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	302										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CACAGAGTCACGTTTCCAGTG	0.547													C|||	5	0.000998403	0.0038	0	5008	,	,		17196	0		0	False		,,,				2504	0					uc002neh.1																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(904-906)caC>caT		Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.		C		14,4392	22.3+/-47.3	0,14,2189	111	103	106		906	-1.5	0.0	19	dbSNP_134	106	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous	C19orf44	NM_032207.2		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		302/658	16614022	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	84167							g.chr19:16614022C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.906C>T	19.37:g.16614022C>T			Somatic				MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.H302H|C19orf44_uc002neg.3_Silent_p.H302H|C19orf44_uc010eai.1_Non-coding_Transcript	p.H302H	NM_032207	NP_115583	WXS	Illumina GAIIx	Phase_I	Q9H6X5	CS044_HUMAN			2	979	+			302					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.906C>T	CCDS12345.1																																																																																				0.547	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		6	90	0	0	0	1	0	6	90					T	16614022	C	T	16614022	2	4	166	1	0	0	0	0	0	0	0	1	1927	535	19	1		1	C19orf44	19	16614022	Silent	SNP	C	TCGA-EL-A3CW-01A-11D-A19J-08		16614022	42514961	9	2940											
C22orf40	150383	broad.mit.edu	37	22	46643010	46643010	+	Silent	SNP	G	G	A			TCGA-EL-A3CW-01A-11D-A19J-08	TCGA-EL-A3CW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3847f72b-5594-44f1-9624-dbbb00aa8ae0	465c59b2-9a7c-4e5b-be9c-5e9a2db9f816	g.chr22:46643010G>A	ENST00000314567.3	-	3	645	c.222C>T	c.(220-222)ggC>ggT	p.G74G	CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_Intron|CDPF1_ENST00000404744.1_Silent_p.G74G	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	74																	TACCCACCGGGCCCACACACA	0.617																																						uc003bhe.3																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(220-222)ggC>ggT		Homo sapiens chromosome 22 open reading frame 40 (C22orf40), mRNA.							66	57	60					22																	46643010		2203	4300	6503	SO:0001819	synonymous_variant	150383							g.chr22:46643010G>A		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 40"	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.222C>T	22.37:g.46643010G>A			Somatic				C22orf40_uc003bhf.3_Non-coding_Transcript	p.G74G	NM_207327	NP_997210	WXS	Illumina GAIIx	Phase_I	Q6NVV7	CV040_HUMAN			2	263	-			74					A6NCA1|A9IU12|A9IU16|Q3ZCR8	Silent	SNP	ENST00000314567.3	37	c.222C>T	CCDS33670.1																																																																																				0.617	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		3	21	0	0	0	1	0	3	21					A	46643010	G	A	46643010	2	1	166	1	0	0	0	0	0	0	0	1	2148	1190	42	2		2	C22orf40	22	46643010	Silent	SNP	G	TCGA-EL-A3CW-01A-11D-A19J-08		46643010	4661556	10	2941											
OR5H14	403273	broad.mit.edu	37	3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	rs148799830	byFrequency	TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:97868995G>A	ENST00000437310.1	+	1	826	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													G|||	2	0.000399361	0	0	5008	,	,		17365	0		0	False		,,,				2504	0.002					uc003dsg.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(766-768)Gcc>Acc		Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	55	50	52		766	-2.3	0.0	3	dbSNP_134	52	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR5H14	NM_001005514.1	58	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	256/311	97868995	2,13000	2203	4298	6501	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868995G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.766G>A	3.37:g.97868995G>A	ENSP00000401706:p.Ala256Thr		Somatic					p.A256T	NM_001005514	NP_001005514	WXS	Illumina GAIIx	Phase_I	A6NHG9	O5H14_HUMAN			0	766	+			256					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.766G>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	3.325	-0.137822	0.06711	2.27E-4	1.16E-4	ENSG00000236032	ENST00000437310	T	0.37058	1.22	2.49	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.550026	0.15214	N	0.274324	T	0.12944	0.0314	N	0.05158	-0.105	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.10989	-1.0606	10	0.52906	T	0.07	.	1.1048	0.01691	0.1767:0.4022:0.183:0.2381	.	256	A6NHG9	O5H14_HUMAN	T	256	ENSP00000401706:A256T	ENSP00000401706:A256T	A	+	1	0	OR5H14	99351685	0.000000	0.05858	0.010000	0.14722	0.042000	0.13812	-1.146000	0.03191	-0.488000	0.06726	0.195000	0.17529	GCC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			20	34	0	0	0	1	0	20	34					A	97868995	G	A	97868995	3	1	167	1	0	0	0	0	1	0	0	0	11160	1087	38	1	768	1	OR5H14	3	97868995	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		97868995	100153435	1	2942											
OR5K4	403278	broad.mit.edu	37	3	98073450	98073450	+	Silent	SNP	T	T	C			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:98073450T>C	ENST00000354924.2	+	1	753	c.753T>C	c.(751-753)ttT>ttC	p.F251F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TCTCAATATTTTACATTTGTC	0.363																																						uc011bgv.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(751-753)ttT>ttC		Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.							113	107	109					3																	98073450		2203	4300	6503	SO:0001819	synonymous_variant	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073450T>C		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.753T>C	3.37:g.98073450T>C			Somatic					p.F251F	NM_001005517	NP_001005517	WXS	Illumina GAIIx	Phase_I	A6NMS3	OR5K4_HUMAN			0	753	+			251						Silent	SNP	ENST00000354924.2	37	c.753T>C	CCDS33802.1																																																																																				0.363	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			67	62	0	0	0	1	0	67	62					C	98073450	T	C	98073450	2	2	167	1	0	0	0	0	0	0	0	1	11169	1838	64	3		3	OR5K4	3	98073450	Silent	SNP	T	TCGA-EL-A3CX-01A-11D-A19J-08	204455	98073450	99948980	2	2943											
TMCC1	23023	broad.mit.edu	37	3	129389482	129389482	+	Missense_Mutation	SNP	G	G	C	rs376957018		TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr3:129389482G>C	ENST00000393238.3	-	4	1542	c.1202C>G	c.(1201-1203)gCg>gGg	p.A401G	TMCC1_ENST00000432054.2_Missense_Mutation_p.A77G|TMCC1_ENST00000329333.5_Missense_Mutation_p.A222G|TMCC1_ENST00000426664.2_Missense_Mutation_p.A287G	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	401						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGCCTTCCCCGCATCATCCAC	0.483																																						uc021xdy.1																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1201-1203)gCg>gGg		Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.							89	86	87					3																	129389482		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389482G>C	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1202C>G	3.37:g.129389482G>C	ENSP00000376930:p.Ala401Gly		Somatic				TMCC1_uc003emy.4_Missense_Mutation_p.A77G|TMCC1_uc011blc.2_Missense_Mutation_p.A222G|TMCC1_uc010htg.3_Missense_Mutation_p.A287G	p.A401G	NM_001017395	NP_001121696	WXS	Illumina GAIIx	Phase_I	O94876	TMCC1_HUMAN			3	1636	-			401					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1202C>G	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.089890	0.01873	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.21	-1.62	0.08372	.	0.393117	0.30437	N	0.009635	T	0.22975	0.0555	N	0.05306	-0.075	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06534	-1.0821	10	0.18276	T	0.48	-22.9697	21.6548	0.99958	0.0:0.3261:0.6739:0.0	.	222;401	B4DE04;O94876	.;TMCC1_HUMAN	G	77;401;287;222	ENSP00000404711:A77G;ENSP00000376930:A401G;ENSP00000389892:A287G;ENSP00000327349:A222G	ENSP00000327349:A222G	A	-	2	0	TMCC1	130872172	0.001000	0.12720	0.014000	0.15608	0.685000	0.39939	-0.234000	0.09028	-0.591000	0.05859	-0.340000	0.08031	GCG		0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		35	48	0	0	0	1	0	35	48					C	129389482	G	C	129389482	3	2	167	1	0	0	0	0	1	0	0	0	15989	1087	38	4	771	4	TMCC1	3	129389482	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08	31316032	129389482	68632948	3	2944											
MMRN1	22915	broad.mit.edu	37	4	90857420	90857421	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr4:90857420_90857421delAG	ENST00000394980.1	+	7	2908_2909	c.2589_2590delAG	c.(2587-2592)caagacfs	p.D864fs	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Frame_Shift_Del_p.D606fs|MMRN1_ENST00000264790.2_Frame_Shift_Del_p.D864fs			Q13201	MMRN1_HUMAN	multimerin 1	864					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTCGGTTGCAAGACATTGAGTC	0.366																																						uc003hst.3																			0		p.L862L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2587-2592)caagacfs		Homo sapiens multimerin 1 (MMRN1), mRNA.																																				SO:0001589	frameshift_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857420_90857421delAG	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2589_2590delAG	4.37:g.90857420_90857421delAG	ENSP00000378431:p.Asp864fs		Somatic				MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Frame_Shift_Del_p.Q605fs	p.Q863fs	NM_007351	NP_031377	WXS	Illumina GAIIx	Phase_I	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	5	2660_2661	+		Hepatocellular(203;0.114)	863					Q4W5L1|Q6P3T8|Q6ZUL9	Frame_Shift_Del	DEL	ENST00000394980.1	37	c.2589_2590delAG	CCDS3635.1																																																																																				0.366	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		8	12						8	12	---	---	---	---	-	90857421	AG	-	90857420	7	5	167	1	0	1	0	1	0	0	0	0	9670	69	3	0	2611	0	MMRN1	4	90857420	Frame_Shift_Del	DEL	AG	TCGA-EL-A3CX-01A-11D-A19J-08		90857420	100296856	4	2945											
ADAMTS16	170690	broad.mit.edu	37	5	5140871	5140871	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr5:5140871delA	ENST00000274181.7	+	2	305	c.167delA	c.(166-168)gaafs	p.E56fs	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Frame_Shift_Del_p.E56fs|CTD-2297D10.2_ENST00000512155.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	56					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTGGATGGAAAAGGGCGGT	0.652																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(166-168)gaafs		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							6	9	8					5																	5140871		1857	4069	5926	SO:0001589	frameshift_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5140871delA	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.167delA	5.37:g.5140871delA	ENSP00000274181:p.Glu56fs		Somatic				ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.E56fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.E56fs	p.E56fs	NM_139056	NP_620687	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			1	305	+			56					C6G490|Q8IVE2	Frame_Shift_Del	DEL	ENST00000274181.7	37	c.167delA	CCDS43299.1																																																																																				0.652	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		2	4						2	4	---	---	---	---	-	5140871	A	-	5140871	7	5	167	1	0	1	0	1	0	0	0	0	261	246	9	0	173	0	ADAMTS16	5	5140871	Frame_Shift_Del	DEL	A	TCGA-EL-A3CX-01A-11D-A19J-08		5140871	175774389	5	2946											
APC	324	broad.mit.edu	37	5	112116592	112116592	+	Nonsense_Mutation	SNP	C	C	T	rs587781392		TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr5:112116592C>T	ENST00000457016.1	+	6	1017	c.637C>T	c.(637-639)Cga>Tga	p.R213*	APC_ENST00000508376.2_Nonsense_Mutation_p.R213*|APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|RNU6-482P_ENST00000391068.1_RNA			P25054	APC_HUMAN	adenomatous polyposis coli	213	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.R213*(20)		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)		TATGGAAAAACGAGCACAGGT	0.348		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)	uc003kpz.4		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		20	Substitution - Nonsense(20)	p.R213*(43)|p.K212*(1)	large_intestine(19)|lung(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	GRCh37	CM920027	APC	M		c.(637-639)Cga>Tga		Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.							58	57	58					5																	112116592		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	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	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.chr5:112116592C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.637C>T	5.37:g.112116592C>T	ENSP00000413133:p.Arg213*	TSP Lung(16;0.13)	Somatic				APC_uc011cvt.2_Nonsense_Mutation_p.R223*|APC_uc003kpy.4_Nonsense_Mutation_p.R213*|APC_uc010jbz.3_5'UTR	p.R213*	NM_001127510	NP_001120982	WXS	Illumina GAIIx	Phase_I	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)	6	830	+		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)	213			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.637C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046788	0.97231	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.56	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0079	14.2561	0.66053	0.4075:0.5925:0.0:0.0	.	.	.	.	X	213;223;213;213;213	.	ENSP00000257430:R213X	R	+	1	2	APC	112144491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.672000	0.46850	0.659000	0.30945	0.655000	0.94253	CGA		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		16	1	0	0	0	1	0	16	1					T	112116592	C	T	112116592	4	4	167	1	0	0	0	0	0	1	0	0	763	528	19	1	655	1	APC	5	112116592	Nonsense_Mutation	SNP	C	TCGA-EL-A3CX-01A-11D-A19J-08	106975721	112116592	68798668	6	2947											
FLNC	2318	broad.mit.edu	37	7	128470999	128470999	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr7:128470999C>G	ENST00000325888.8	+	1	569	c.308C>G	c.(307-309)gCc>gGc	p.A103G	FLNC_ENST00000346177.6_Missense_Mutation_p.A103G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	103	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						GTGTCCGTGGCCCTCGAGTTC	0.652																																						uc003vnz.4																			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.(307-309)gCc>gGc		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							53	55	54					7																	128470999		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470999C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.308C>G	7.37:g.128470999C>G	ENSP00000327145:p.Ala103Gly		Somatic				FLNC_uc003voa.4_Missense_Mutation_p.A103G	p.A103G	NM_001458	NP_001449	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			0	517	+			103			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.308C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338996	0.95783	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.64618	-0.11;-0.11	4.49	3.61	0.41365	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.89658	3.05	0.52099	D	0.999948	B;P	0.40144	0.321;0.704	B;P	0.52454	0.151;0.699	T	0.80381	-0.1406	10	0.87932	D	0	.	11.0523	0.47898	0.0:0.9074:0.0:0.0926	.	103;103	Q14315-2;Q14315	.;FLNC_HUMAN	G	103	ENSP00000327145:A103G;ENSP00000344002:A103G	ENSP00000327145:A103G	A	+	2	0	FLNC	128258235	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.772000	0.85439	1.009000	0.39289	0.561000	0.74099	GCC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			16	25	0	0	0	1	0	16	25					G	128470999	C	G	128470999	3	3	167	1	0	0	0	0	1	0	0	0	5935	739	26	4	310	4	FLNC	7	128470999	Missense_Mutation	SNP	C	TCGA-EL-A3CX-01A-11D-A19J-08		128470999	30667664	7	2948											
FHOD3	80206	broad.mit.edu	37	18	34326989	34326989	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr18:34326989G>A	ENST00000359247.4	+	20	3547	c.3547G>A	c.(3547-3549)Gca>Aca	p.A1183T	FHOD3_ENST00000590592.1_Missense_Mutation_p.A1375T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1200T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A396T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1162T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A179T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1183	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)				CAAGGCAATTGCAAAACATGA	0.373																																						uc021uiv.1																			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.(4123-4125)Gca>Aca		Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.							97	94	95					18																	34326989		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34326989G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3547G>A	18.37:g.34326989G>A	ENSP00000352186:p.Ala1183Thr		Somatic				FHOD3_uc002kzs.1_Missense_Mutation_p.A1200T|FHOD3_uc002kzt.1_Missense_Mutation_p.A1183T|FHOD3_uc010dmz.1_Missense_Mutation_p.A915T|FHOD3_uc010dnb.1_Missense_Mutation_p.A179T	p.A1375T	NM_025135	NP_079411	WXS	Illumina GAIIx	Phase_I	Q2V2M9	FHOD3_HUMAN			23	4220	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1183			DAD.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.4123G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.360261	0.82353	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.18174	2.23;2.23;2.23	5.67	4.77	0.60923	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.105405	0.64402	D	0.000005	T	0.30479	0.0766	M	0.62723	1.935	0.80722	D	1	B;P;P;B	0.49559	0.218;0.925;0.885;0.198	B;P;P;B	0.51324	0.196;0.536;0.666;0.234	T	0.04440	-1.0951	10	0.59425	D	0.04	.	15.1494	0.72684	0.0:0.1421:0.8579:0.0	.	404;1162;1183;1200	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	T	1200;1183;1162	ENSP00000257209:A1200T;ENSP00000352186:A1183T;ENSP00000411430:A1162T	ENSP00000257209:A1200T	A	+	1	0	FHOD3	32580987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.928000	0.87587	1.360000	0.45960	0.462000	0.41574	GCA		0.373	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		33	28	0	0	0	1	0	33	28					A	34326989	G	A	34326989	3	1	167	1	0	0	0	0	1	0	0	0	5883	1319	46	2	3680	2	FHOD3	18	34326989	Missense_Mutation	SNP	G	TCGA-EL-A3CX-01A-11D-A19J-08		34326989	43750259	8	2949											
RALGAPA2	57186	broad.mit.edu	37	20	20506939	20506939	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CX-01A-11D-A19J-08	TCGA-EL-A3CX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a33fd2-085c-488b-b843-2ca97c85a5cb	180bbc51-bde0-4489-ad9d-ec66b632839b	g.chr20:20506939T>C	ENST00000202677.7	-	28	3657	c.3650A>G	c.(3649-3651)aAg>aGg	p.K1217R		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1217					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATCTGAAGCTTCTCCCAGTA	0.408																																						uc002wrz.3																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(3649-3651)aAg>aGg		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							40	39	39					20																	20506939		1855	4110	5965	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	g.chr20:20506939T>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3650A>G	20.37:g.20506939T>C	ENSP00000202677:p.Lys1217Arg		Somatic				RALGAPA2_uc002wry.3_Missense_Mutation_p.K832R|RALGAPA2_uc010zsg.2_Missense_Mutation_p.K665R|RALGAPA2_uc002wsa.1_5'UTR	p.K1217R	NM_020343	NP_065076	WXS	Illumina GAIIx	Phase_I	Q2PPJ7	RGPA2_HUMAN			27	3793	-			1217					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3650A>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.146|4.146	0.025395|0.025395	0.08054|0.08054	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.29655|.	1.56|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.158282|.	0.52532|.	D|.	0.000062|.	T|T	0.38799|0.38799	0.1054|0.1054	N|N	0.17082|0.17082	0.46|0.46	0.31138|0.31138	N|N	0.706949|0.706949	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.41770|0.41770	-0.9490|-0.9490	10|5	0.05620|.	T|.	0.96|.	.|.	14.7032|14.7032	0.69168|0.69168	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1055;1217|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	R|G	1217|1034	ENSP00000202677:K1217R|.	ENSP00000202677:K1217R|.	K|S	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20454939|20454939	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.796000|0.796000	0.44982|0.44982	5.267000|5.267000	0.65530|0.65530	2.203000|2.203000	0.70933|0.70933	0.459000|0.459000	0.35465|0.35465	AAG|AGC		0.408	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	15	0	0	0	1	0	3	15					C	20506939	T	C	20506939	3	2	167	1	0	0	0	0	1	0	0	0	13014	1609	56	3	2019	3	RALGAPA2	20	20506939	Missense_Mutation	SNP	T	TCGA-EL-A3CX-01A-11D-A19J-08		20506939	42518581	9	2950											
FNBP4	23360	broad.mit.edu	37	11	47744665	47744665	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr11:47744665G>A	ENST00000263773.5	-	15	2680	c.2668C>T	c.(2668-2670)Cca>Tca	p.P890S		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	890						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCCTGAACTGGCTGCAATGAG	0.547																																						uc009ylv.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2668-2670)Cca>Tca		Homo sapiens formin binding protein 4 (FNBP4), mRNA.							55	59	58					11																	47744665		2080	4202	6282	SO:0001583	missense	23360							g.chr11:47744665G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2668C>T	11.37:g.47744665G>A	ENSP00000263773:p.Pro890Ser		Somatic				FNBP4_uc001ngj.3_Missense_Mutation_p.P797S	p.P890S	NM_015308	NP_056123	WXS	Illumina GAIIx	Phase_I	Q8N3X1	FNBP4_HUMAN			14	2821	-			890					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2668C>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	8.704	0.910392	0.17833	.	.	ENSG00000109920	ENST00000263773	T	0.34072	1.38	5.21	0.0523	0.14301	.	0.342816	0.30742	N	0.008965	T	0.21718	0.0523	L	0.27053	0.805	0.42227	D	0.991874	B	0.14438	0.01	B	0.14023	0.01	T	0.05468	-1.0883	10	0.33940	T	0.23	-2.5454	8.9822	0.35972	0.4617:0.0:0.5383:0.0	.	890	Q8N3X1	FNBP4_HUMAN	S	890	ENSP00000263773:P890S	ENSP00000263773:P890S	P	-	1	0	FNBP4	47701241	1.000000	0.71417	0.918000	0.36340	0.525000	0.34531	1.511000	0.35801	-0.013000	0.14199	0.555000	0.69702	CCA		0.547	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	39	0	0	0	1	0	3	39					A	47744665	G	A	47744665	3	1	168	1	0	0	0	0	1	0	0	0	5967	1203	42	2	397	2	FNBP4	11	47744665	Missense_Mutation	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08		47744665	87261851	1	2951											
SEC23A	10484	broad.mit.edu	37	14	39560843	39560843	+	Silent	SNP	C	C	T			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr14:39560843C>T	ENST00000307712.6	-	5	958	c.441G>A	c.(439-441)ctG>ctA	p.L147L	SEC23A_ENST00000545328.2_Silent_p.L118L|SEC23A_ENST00000536508.1_Silent_p.L21L|SEC23A_ENST00000537403.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	147					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGGATTCTTTCAGGGCTTGTA	0.383																																						uc001wup.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(439-441)ctG>ctA		Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.							112	108	109					14																	39560843		2203	4300	6503	SO:0001819	synonymous_variant	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39560843C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.441G>A	14.37:g.39560843C>T			Somatic				SEC23A_uc010tqa.1_Silent_p.L9L|SEC23A_uc010tqb.1_Silent_p.L118L|SEC23A_uc010tqc.1_Silent_p.L9L	p.L147L	NM_006364	NP_006355	WXS	Illumina GAIIx	Phase_I	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	4	664	-	Hepatocellular(127;0.213)		147					B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	c.441G>A	CCDS9668.1																																																																																				0.383	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			6	76	0	0	0	1	0	6	76					T	39560843	C	T	39560843	2	4	168	1	0	0	0	0	0	0	0	1	13991	813	29	2		2	SEC23A	14	39560843	Silent	SNP	C	TCGA-EL-A3CY-01A-11D-A19J-08		39560843	67788697	2	2952											
INPP5K	51763	broad.mit.edu	37	17	1400056	1400056	+	Silent	SNP	G	G	C			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr17:1400056G>C	ENST00000421807.2	-	9	1393	c.1005C>G	c.(1003-1005)ccC>ccG	p.P335P	INPP5K_ENST00000406424.4_Silent_p.P259P|INPP5K_ENST00000397335.3_Silent_p.P243P|INPP5K_ENST00000320345.6_Silent_p.P259P|INPP5K_ENST00000542125.1_Silent_p.P239P	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	335	Required for ruffle localization.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|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)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						ACAGGTCCTCGGGCATCAGGA	0.582																																						uc002fsr.3																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(1003-1005)ccC>ccG		Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.							102	78	86					17																	1400056		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1400056G>C		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"skeletal muscle and kidney enriched inositol phosphatase"	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.1005C>G	17.37:g.1400056G>C			Somatic				INPP5K_uc002fss.3_Silent_p.P259P|INPP5K_uc002fsq.3_Silent_p.P259P|INPP5K_uc010cjr.3_Silent_p.P259P|INPP5K_uc010vql.2_Silent_p.P243P|INPP5K_uc010vqm.2_Silent_p.P239P	p.P335P	NM_016532	NP_570122	WXS	Illumina GAIIx	Phase_I	Q9BT40	INP5K_HUMAN			8	1394	-			335			Required for ruffle localization.		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.1005C>G	CCDS11004.1																																																																																				0.582	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			3	43	0	0	0	1	0	3	43					C	1400056	G	C	1400056	2	2	168	1	0	0	0	0	0	0	0	1	7760	1103	39	4		4	INPP5K	17	1400056	Silent	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08		1400056	79795154	3	2953											
HELZ	9931	broad.mit.edu	37	17	65186416	65186416	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CY-01A-11D-A19J-08	TCGA-EL-A3CY-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6aedde6d-6dae-43be-a849-e10ae19350f8	9f6ea3d3-c570-4a1a-806f-4ce2d3304f72	g.chr17:65186416G>C	ENST00000358691.5	-	10	779	c.613C>G	c.(613-615)Cag>Gag	p.Q205E	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Missense_Mutation_p.Q205E	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	205						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q205*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGTTCTTCCTGGGAATGTGCT	0.378																																						uc010wqk.2																			1	Substitution - Nonsense(1)	p.Q205*(2)	pancreas(1)	NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(613-615)Cag>Gag		Homo sapiens helicase with zinc finger (HELZ), mRNA.							143	128	132					17																	65186416		1866	4106	5972	SO:0001583	missense	9931							g.chr17:65186416G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.613C>G	17.37:g.65186416G>C	ENSP00000351524:p.Gln205Glu		Somatic				HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.Q205E	p.Q205E	NM_014877	NP_055692	WXS	Illumina GAIIx	Phase_I					9	800	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.613C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465522	0.43839	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	T;T	0.41758	0.99;0.99	5.59	5.59	0.84812	Zinc finger, CCCH-type (3);	0.053945	0.85682	D	0.000000	T	0.31420	0.0796	N	0.16833	0.445	0.80722	D	1	B;B	0.22604	0.072;0.043	B;B	0.20577	0.023;0.03	T	0.05451	-1.0884	10	0.26408	T	0.33	-10.616	19.5907	0.95509	0.0:0.0:1.0:0.0	.	205;205	B7ZLW2;P42694	.;HELZ_HUMAN	E	205	ENSP00000351524:Q205E;ENSP00000411144:Q205E	ENSP00000351524:Q205E	Q	-	1	0	HELZ	62616878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.462000	0.97649	2.640000	0.89533	0.655000	0.94253	CAG		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		3	44	0	0	0	1	0	3	44					C	65186416	G	C	65186416	3	2	168	1	0	0	0	0	1	0	0	0	7049	1357	47	4	5311	4	HELZ	17	65186416	Missense_Mutation	SNP	G	TCGA-EL-A3CY-01A-11D-A19J-08	63786360	65186416	16008794	4	2954											
GNPAT	8443	broad.mit.edu	37	1	231411916	231411916	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr1:231411916C>T	ENST00000366647.4	+	15	2142	c.1973C>T	c.(1972-1974)gCc>gTc	p.A658V	GNPAT_ENST00000469332.1_3'UTR|GNPAT_ENST00000366646.3_Missense_Mutation_p.A597V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	658					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AATGAACCTGCCACAACCAAA	0.274																																						uc001hup.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(1972-1974)gCc>gTc		Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.							23	26	25					1																	231411916		2193	4292	6485	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231411916C>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1973C>T	1.37:g.231411916C>T	ENSP00000355607:p.Ala658Val		Somatic				GNPAT_uc009xfp.3_Missense_Mutation_p.A597V	p.A658V	NM_014236	NP_055051	WXS	Illumina GAIIx	Phase_I	O15228	GNPAT_HUMAN			14	2179	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	658					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1973C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542036	0.65198	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	T;T	0.67698	-0.28;-0.23	4.98	4.98	0.66077	.	0.448742	0.24564	N	0.037441	T	0.63896	0.2550	L	0.59436	1.845	0.44254	D	0.9971	P;B	0.46621	0.881;0.245	B;B	0.40940	0.344;0.052	T	0.65442	-0.6167	10	0.34782	T	0.22	.	16.2152	0.82206	0.0:1.0:0.0:0.0	.	597;658	B4DNM9;O15228	.;GNPAT_HUMAN	V	658;597	ENSP00000355607:A658V;ENSP00000355606:A597V	ENSP00000355606:A597V	A	+	2	0	GNPAT	229478539	0.993000	0.37304	0.954000	0.39281	0.961000	0.63080	4.041000	0.57339	2.596000	0.87737	0.563000	0.77884	GCC		0.274	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			4	17	0	0	0	1	0	4	17					T	231411916	C	T	231411916	3	4	169	1	0	0	0	0	1	0	0	0	6541	739	26	2	2031	2	GNPAT	1	231411916	Missense_Mutation	SNP	C	TCGA-EL-A3CZ-01A-11D-A19J-08		231411916	17838705	1	2955											
RAPH1	65059	broad.mit.edu	37	2	204304820	204304821	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr2:204304820_204304821insT	ENST00000319170.5	-	14	3391_3392	c.3092_3093insA	c.(3091-3093)aatfs	p.N1031fs	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Frame_Shift_Ins_p.N1083fs|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1031					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCCAGAAAGATTGAGTTTTCC	0.545																																						uc002vad.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3091-3093)aatfs		Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304820_204304821insT	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3093dupA	2.37:g.204304822_204304822dupT	ENSP00000316543:p.Asn1031fs		Somatic					p.N1031fs	NM_213589	NP_998754	WXS	Illumina GAIIx	Phase_I	Q70E73	RAPH1_HUMAN			13	3317_3318	-			1031					Q96Q37|Q9C0I2	Frame_Shift_Ins	INS	ENST00000319170.5	37	c.3092_3093insA	CCDS2359.1																																																																																				0.545	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		39	66						39	66	---	---	---	---	T	204304821	-	T	204304820	7	5	169	1	0	1	1	0	0	0	0	0	13050	330	12	0	663	0	RAPH1	2	204304820	Frame_Shift_Ins	INS	-	TCGA-EL-A3CZ-01A-11D-A19J-08		204304820	38894553	2	2956											
PHIP	55023	broad.mit.edu	37	6	79707237	79707237	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr6:79707237G>A	ENST00000275034.4	-	19	2262	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	699					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|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 import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCATTTGCCGTACACCTTCA	0.468																																						uc003pir.3																			0		p.V698E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2095-2097)Cgg>Tgg		Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.							250	216	228					6																	79707237		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79707237G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2095C>T	6.37:g.79707237G>A	ENSP00000275034:p.Arg699Trp		Somatic				PHIP_uc011dyp.2_Missense_Mutation_p.R699W	p.R699W	NM_017934	NP_060404	WXS	Illumina GAIIx	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	18	2321	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	699					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2095C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055776	0.76074	.	.	ENSG00000146247	ENST00000275034	T	0.30981	1.51	4.96	3.99	0.46301	.	0.090653	0.44902	D	0.000417	T	0.42607	0.1210	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.27640	-1.0068	9	.	.	.	-9.4073	15.0895	0.72183	0.0:0.0:0.8485:0.1515	.	699;699	A7J992;Q8WWQ0	.;PHIP_HUMAN	W	699	ENSP00000275034:R699W	.	R	-	1	2	PHIP	79763956	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.204000	0.72143	2.264000	0.75181	0.655000	0.94253	CGG		0.468	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			31	55	0	0	0	1	0	31	55					A	79707237	G	A	79707237	3	1	169	1	0	0	0	0	1	0	0	0	11842	1144	40	1	3458	1	PHIP	6	79707237	Missense_Mutation	SNP	G	TCGA-EL-A3CZ-01A-11D-A19J-08		79707237	91407830	3	2957											
BTRC	8945	broad.mit.edu	37	10	103292735	103292735	+	Silent	SNP	C	C	T			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr10:103292735C>T	ENST00000370187.3	+	9	1123	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	BTRC_ENST00000408038.2_Silent_p.C299C|BTRC_ENST00000393441.4_Silent_p.C294C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CATTGGAATGCAAGCGAATTC	0.438																																						uc001kta.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1003-1005)tgC>tgT		Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.							175	148	157					10																	103292735		2203	4300	6503	SO:0001819	synonymous_variant	8945				Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus		g.chr10:103292735C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1005C>T	10.37:g.103292735C>T			Somatic				BTRC_uc001ktb.3_Silent_p.C299C|BTRC_uc001ktc.3_Silent_p.C309C	p.C335C	NM_033637	NP_378663	WXS	Illumina GAIIx	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	8	1118	+		Colorectal(252;0.234)	335					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.1005C>T	CCDS7512.1																																																																																				0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		6	90	0	0	0	1	0	6	90					T	103292735	C	T	103292735	2	4	169	1	0	0	0	0	0	0	0	1	1569	718	25	2		2	BTRC	10	103292735	Silent	SNP	C	TCGA-EL-A3CZ-01A-11D-A19J-08		103292735	32242012	4	2958											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		32	46	0	0	0	1	0	32	46					C	533874	T	C	533874	3	2	169	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A3CZ-01A-11D-A19J-08		533874	134472642	5	2959											
GPATCH8	23131	broad.mit.edu	37	17	42475015	42475015	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CZ-01A-11D-A19J-08	TCGA-EL-A3CZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c1a1a4-82e1-485a-afce-cafaed57945f	15fb2f33-0687-4679-b3b1-2244f979c0a7	g.chr17:42475015G>C	ENST00000591680.1	-	8	4460	c.4430C>G	c.(4429-4431)aCt>aGt	p.T1477S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.T1399S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1477	Poly-Ala.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A1474_A1478delAAATA(1)		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)		GTGAAGTGCAGTGGCAGCTGC	0.612																																						uc002igw.2																			1	Deletion - In frame(1)	p.A1474_A1478delAAATA(2)	liver(1)	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.(4429-4431)aCt>aGt		Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.							72	63	66					17																	42475015		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475015G>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4430C>G	17.37:g.42475015G>C	ENSP00000467556:p.Thr1477Ser		Somatic				GPATCH8_uc002igv.2_Missense_Mutation_p.T1399S|GPATCH8_uc010wiz.2_Missense_Mutation_p.T1399S	p.T1477S	NM_001002909	NP_001002909	WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	7	4649	-		Prostate(33;0.0181)	1477			Poly-Ala.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.4430C>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788451	0.31685	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.10005	2.92	5.34	4.36	0.52297	.	0.203375	0.41938	D	0.000799	T	0.04724	0.0128	N	0.04090	-0.28	0.38992	D	0.959166	B	0.31383	0.321	B	0.23852	0.049	T	0.46400	-0.9194	10	0.15952	T	0.53	-14.1487	13.3988	0.60870	0.0772:0.0:0.9228:0.0	.	1477	Q9UKJ3	GPTC8_HUMAN	S	1477;1399	ENSP00000395016:T1399S	ENSP00000335486:T1477S	T	-	2	0	GPATCH8	39830541	1.000000	0.71417	0.997000	0.53966	0.690000	0.40134	9.394000	0.97261	1.254000	0.44035	0.313000	0.20887	ACT		0.612	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		9	20	0	0	0	1	0	9	20					C	42475015	G	C	42475015	3	2	169	1	0	0	0	0	1	0	0	0	6594	1029	36	4	82	4	GPATCH8	17	42475015	Missense_Mutation	SNP	G	TCGA-EL-A3CZ-01A-11D-A19J-08		42475015	38720195	6	2960											
PLB1	151056	broad.mit.edu	37	2	28808648	28808648	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:28808648T>C	ENST00000327757.5	+	26	1798	c.1754T>C	c.(1753-1755)cTg>cCg	p.L585P	PLB1_ENST00000329020.6_Missense_Mutation_p.L273P|PLB1_ENST00000422425.2_Missense_Mutation_p.L574P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	585	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTGTGTCCTGAAGTTTGAT	0.468																																						uc002rmb.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1753-1755)cTg>cCg		Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.							266	211	230					2																	28808648		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28808648T>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1754T>C	2.37:g.28808648T>C	ENSP00000330442:p.Leu585Pro		Somatic				PLB1_uc010ezj.2_Missense_Mutation_p.L574P|PLB1_uc002rmc.3_Missense_Mutation_p.L273P|PLB1_uc002rmd.1_Missense_Mutation_p.L95P	p.L585P	NM_153021	NP_694566	WXS	Illumina GAIIx	Phase_I	Q6P1J6	PLB1_HUMAN			25	1798	+	Acute lymphoblastic leukemia(172;0.155)		585			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1754T>C	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.715163|4.715163	0.89112|0.89112	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020|ENST00000404858	T;T;T;T|.	0.14766|.	2.48;2.48;2.48;2.48|.	5.79|5.79	4.65|4.65	0.58169|0.58169	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);|.	0.446678|.	0.21869|.	N|.	0.067919|.	T|.	0.77968|.	0.4210|.	M|M	0.90483|0.90483	3.12|3.12	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.963;1.0;1.0;0.994|.	P;D;D;D|.	0.79108|.	0.839;0.992;0.99;0.968|.	T|.	0.79907|.	-0.1605|.	10|.	0.42905|.	T|.	0.14|.	-5.4543|-5.4543	9.4492|9.4492	0.38717|0.38717	0.0:0.0812:0.0:0.9188|0.0:0.0812:0.0:0.9188	.|.	574;585;273;585|.	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6|.	.;.;.;PLB1_HUMAN|.	P|R	585;574;295;273|573	ENSP00000330442:L585P;ENSP00000416440:L574P;ENSP00000392493:L295P;ENSP00000330729:L273P|.	ENSP00000330442:L585P|.	L|X	+|+	2|1	0|0	PLB1|PLB1	28662152|28662152	0.143000|0.143000	0.22626|0.22626	0.166000|0.166000	0.22797|0.22797	0.996000|0.996000	0.88848|0.88848	3.343000|3.343000	0.52167|0.52167	1.038000|1.038000	0.40049|0.40049	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.468	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			3	99	0	0	0	1	0	3	99					C	28808648	T	C	28808648	3	2	170	1	0	0	0	0	1	0	0	0	12024	1580	55	3	1889	3	PLB1	2	28808648	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		28808648	214390725	1	2961											
LOC728819	130271	broad.mit.edu	37	2	43902586	43902586	+	Intron	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:43902586C>T	ENST00000282406.4	+	3	233					NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGCCCTGAGCCGGTACAGGC	0.458																																						uc010fav.1																			0											c.(874-876)cgG>cgA		Homo sapiens hCG1645220 (LOC728819), mRNA.							79	75	76					2																	43902586		2014	4206	6220	SO:0001627	intron_variant	728819							g.chr2:43902586C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.124-3416C>T	2.37:g.43902586C>T			Somatic				PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	p.R292R	NM_001101330	NP_001094800	WXS	Illumina GAIIx	Phase_I					0	876	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.876G>A	CCDS1812.1																																																																																				0.458	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		3	38	0	0	0	1	0	3	38					T	43902586	C	T	43902586	1	4	170	0	1	0	0	0	0	0	0	0	8887	726	26	2		2	LOC728819	2	43902586	Intron	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	15093938	43902586	199296787	2	2962											
GPR155	151556	broad.mit.edu	37	2	175335223	175335223	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr2:175335223C>T	ENST00000392552.2	-	4	1159	c.921G>A	c.(919-921)gtG>gtA	p.V307V	GPR155_ENST00000392551.2_Silent_p.V307V|GPR155_ENST00000295500.4_Silent_p.V307V	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	307					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATGGTTCACCACACTGTCGC	0.408																																						uc002uit.3																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(919-921)gtG>gtA		Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.							106	89	95					2																	175335223		2203	4300	6503	SO:0001819	synonymous_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175335223C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.921G>A	2.37:g.175335223C>T			Somatic				GPR155_uc002uiu.3_Silent_p.V307V|GPR155_uc002uiv.3_Silent_p.V307V|GPR155_uc010fqs.3_Silent_p.V307V	p.V307V	NM_001033045	NP_689742	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			4	1312	-			307					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	c.921G>A	CCDS2259.1																																																																																				0.408	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		5	54	0	0	0	1	0	5	54					T	175335223	C	T	175335223	2	4	170	1	0	0	0	0	0	0	0	1	6660	581	21	2		2	GPR155	2	175335223	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	131432637	175335223	67864150	3	2963											
WDR5B	54554	broad.mit.edu	37	3	122134317	122134317	+	Missense_Mutation	SNP	T	T	G	rs144433176	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr3:122134317T>G	ENST00000330689.4	-	1	565	c.59A>C	c.(58-60)aAt>aCt	p.N20T	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	20										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTTGCTCTGATTGGCCGATGA	0.498																																						uc003efa.1																			0		p.A19V(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(58-60)aAt>aCt		Homo sapiens WD repeat domain 5B (WDR5B), mRNA.							138	135	136					3																	122134317		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134317T>G	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.59A>C	3.37:g.122134317T>G	ENSP00000330381:p.Asn20Thr		Somatic					p.N20T	NM_019069	NP_061942	WXS	Illumina GAIIx	Phase_I	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	0	566	-			20					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.59A>C	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152010	0.06585	.	.	ENSG00000196981	ENST00000330689	T	0.50277	0.75	4.78	-8.68	0.00859	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.594001	0.20340	N	0.094254	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.03717	-1.1010	10	0.59425	D	0.04	.	5.0054	0.14286	0.0923:0.2653:0.0957:0.5467	.	20	Q86VZ2	WDR5B_HUMAN	T	20	ENSP00000330381:N20T	ENSP00000330381:N20T	N	-	2	0	WDR5B	123617007	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.894000	0.01607	-1.564000	0.01678	-1.366000	0.01203	AAT		0.498	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		76	103	0	0	0	1	0	76	103					G	122134317	T	G	122134317	3	3	170	1	0	0	0	0	1	0	0	0	17306	1493	52	5	937	5	WDR5B	3	122134317	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		122134317	75888113	4	2964											
MYO10	4651	broad.mit.edu	37	5	16769308	16769308	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:16769308G>A	ENST00000513610.1	-	10	1389	c.935C>T	c.(934-936)gCa>gTa	p.A312V		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	312	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACGTCCATTGCCGTCTAGAA	0.373																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(934-936)gCa>gTa		Homo sapiens myosin X (MYO10), mRNA.							77	70	72					5																	16769308		1885	4110	5995	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	g.chr5:16769308G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.935C>T	5.37:g.16769308G>A	ENSP00000421280:p.Ala312Val		Somatic					p.A312V	NM_012334	NP_036466	WXS	Illumina GAIIx	Phase_I	Q9HD67	MYO10_HUMAN			9	1403	-			312			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.935C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018814	0.75275	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	D;D	0.81821	-1.54;-1.54	5.71	5.71	0.89125	Myosin head, motor domain (2);	.	.	.	.	D	0.93726	0.7995	H	0.97265	3.97	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.95431	0.8516	9	0.87932	D	0	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	312	Q9HD67	MYO10_HUMAN	V	312;323	ENSP00000421280:A312V;ENSP00000421309:A323V	ENSP00000421280:A312V	A	-	2	0	MYO10	16822308	1.000000	0.71417	0.834000	0.33040	0.071000	0.16799	9.696000	0.98695	2.694000	0.91930	0.585000	0.79938	GCA		0.373	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		14	8	0	0	0	1	0	14	8					A	16769308	G	A	16769308	3	1	170	1	0	0	0	0	1	0	0	0	10062	1319	46	2	5369	2	MYO10	5	16769308	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		16769308	164145952	5	2965											
DIAPH1	1729	broad.mit.edu	37	5	140908072	140908072	+	Silent	SNP	G	G	C	rs369299884		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr5:140908072G>C	ENST00000398557.4	-	23	3236	c.3096C>G	c.(3094-3096)ccC>ccG	p.P1032P	DIAPH1_ENST00000520569.1_Silent_p.P975P|DIAPH1_ENST00000253811.6_Silent_p.P1033P|DIAPH1_ENST00000398566.3_Silent_p.P1024P|DIAPH1_ENST00000389054.3_Silent_p.P1029P|DIAPH1_ENST00000398562.2_Silent_p.P1008P|DIAPH1_ENST00000389057.5_Silent_p.P1023P|DIAPH1_ENST00000518047.1_Silent_p.P1020P|DIAPH1_ENST00000494967.1_5'Flank	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1032	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGACATCGGGATAGTCAT	0.498																																						uc003llb.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3094-3096)ccC>ccG		Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.							98	92	94					5																	140908072		1958	4167	6125	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding	g.chr5:140908072G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3096C>G	5.37:g.140908072G>C			Somatic				DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Silent_p.P1023P|DIAPH1_uc021yep.1_Silent_p.P1032P|DIAPH1_uc021yeq.1_Silent_p.P1023P|DIAPH1_uc010jgc.1_Silent_p.P468P	p.P1032P	NM_005219	NP_005210	WXS	Illumina GAIIx	Phase_I	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	3237	-			1032			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.3096C>G	CCDS43374.1																																																																																				0.498	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		30	41	0	0	0	1	0	30	41					C	140908072	G	C	140908072	2	2	170	1	0	0	0	0	0	0	0	1	4518	1103	39	4		4	DIAPH1	5	140908072	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	124138764	140908072	40007188	6	2966											
ZNF318	24149	broad.mit.edu	37	6	43325106	43325106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:43325106G>A	ENST00000361428.2	-	3	1023	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R316*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	316					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R316*(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCAGTTCTCGAAACTCAGGG	0.522																																						uc003oux.3																			1	Substitution - Nonsense(1)	p.R316*(2)	endometrium(1)	autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(946-948)Cga>Tga		Homo sapiens zinc finger protein 318 (ZNF318), mRNA.							166	145	152					6																	43325106		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43325106G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.946C>T	6.37:g.43325106G>A	ENSP00000354964:p.Arg316*		Somatic				ZNF318_uc003ouw.3_Non-coding_Transcript	p.R316*	NM_014345	NP_055160	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		2	1024	-			316					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.946C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	37	6.066661	0.97251	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	.	.	.	5.64	3.75	0.43078	.	0.161081	0.38326	N	0.001735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.4378	11.1986	0.48728	0.0:0.1376:0.7192:0.1432	.	.	.	.	X	316	.	ENSP00000323032:R316X	R	-	1	2	ZNF318	43433084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.731000	0.47343	1.340000	0.45581	0.650000	0.86243	CGA		0.522	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		16	55	0	0	0	1	0	16	55					A	43325106	G	A	43325106	4	1	170	1	0	0	0	0	0	1	0	0	17833	1066	37	1	5925	1	ZNF318	6	43325106	Nonsense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		43325106	127789961	7	2967											
BEND6	221336	broad.mit.edu	37	6	56883337	56883337	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:56883337T>A	ENST00000370746.3	+	6	1100	c.831T>A	c.(829-831)gaT>gaA	p.D277E	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.D179E	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ACTCTCAGGATATTAAATAGA	0.313																																						uc010kab.3																			0		p.D277Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(829-831)gaT>gaA		Homo sapiens BEN domain containing 6 (BEND6), mRNA.							60	57	58					6																	56883337		1815	4066	5881	SO:0001583	missense	221336							g.chr6:56883337T>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.831T>A	6.37:g.56883337T>A	ENSP00000359782:p.Asp277Glu		Somatic				BEND6_uc003pdi.4_Missense_Mutation_p.D179E	p.D277E	NM_152731	NP_689944	WXS	Illumina GAIIx	Phase_I	Q5SZJ8	BEND6_HUMAN			5	1417	+			277					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.831T>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212778	0.79352	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.96	3.79	0.43588	.	0.439888	0.16249	U	0.222800	T	0.13415	0.0325	N	0.19112	0.55	0.29559	N	0.850773	B;B	0.31817	0.231;0.341	B;B	0.32864	0.107;0.154	T	0.09250	-1.0683	9	0.87932	D	0	-20.2422	8.9054	0.35521	0.0:0.0853:0.0:0.9147	.	277;179	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	E	277;179	.	ENSP00000359782:D277E	D	+	3	2	BEND6	56991296	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.116000	0.41930	1.010000	0.39314	0.533000	0.62120	GAT		0.313	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		18	32	0	0	0	1	0	18	32					A	56883337	T	A	56883337	3	1	170	1	0	0	0	0	1	0	0	0	1402	1403	49	5	849	5	BEND6	6	56883337	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	13558231	56883337	114231730	8	2968											
MED23	9439	broad.mit.edu	37	6	131926420	131926420	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr6:131926420T>C	ENST00000368068.3	-	14	1752	c.1573A>G	c.(1573-1575)Atg>Gtg	p.M525V	MED23_ENST00000368058.1_Missense_Mutation_p.M531V|MED23_ENST00000545957.1_Missense_Mutation_p.M166V|MED23_ENST00000403834.3_Missense_Mutation_p.M531V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368060.3_Missense_Mutation_p.M525V|MED23_ENST00000540546.1_Missense_Mutation_p.M531V|MED23_ENST00000368053.4_Missense_Mutation_p.M531V|MED23_ENST00000354577.4_Missense_Mutation_p.M531V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	525					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGGAGGTTCATAGGTAAGGGG	0.393																																						uc003qcs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1573-1575)Atg>Gtg		Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.							95	92	93					6																	131926420		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131926420T>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1573A>G	6.37:g.131926420T>C	ENSP00000357047:p.Met525Val		Somatic				MED23_uc003qcq.3_Missense_Mutation_p.M531V|MED23_uc011eca.1_Missense_Mutation_p.M166V|MED23_uc003qct.1_Missense_Mutation_p.M531V|MED23_uc011ecb.1_Intron	p.M525V	NM_004830	NP_004821	WXS	Illumina GAIIx	Phase_I	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	13	1747	-	Breast(56;0.0753)		525					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.1573A>G	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159918	0.38119	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	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	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	L	0.31752	0.955	0.80722	D	1	P;B;P;P	0.40398	0.716;0.452;0.536;0.48	B;P;B;B	0.44623	0.268;0.455;0.206;0.13	T	0.58358	-0.7650	10	0.14656	T	0.56	-14.0275	16.2567	0.82522	0.0:0.0:0.0:1.0	.	166;531;525;531	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	V	531;525;531;525;531;166;531;531	ENSP00000346588:M531V;ENSP00000357047:M525V;ENSP00000384536:M531V;ENSP00000357039:M525V;ENSP00000357037:M531V;ENSP00000439977:M166V;ENSP00000357032:M531V;ENSP00000437818:M531V	ENSP00000346588:M531V	M	-	1	0	MED23	131968113	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	8.040000	0.89188	2.242000	0.73789	0.482000	0.46254	ATG		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			3	85	0	0	0	1	0	3	85					C	131926420	T	C	131926420	3	2	170	1	0	0	0	0	1	0	0	0	9441	1406	49	3	2604	3	MED23	6	131926420	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08	75043083	131926420	39188647	9	2969											
CCL24	6369	broad.mit.edu	37	7	75441263	75441263	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:75441263G>C	ENST00000416943.1	-	4	304	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	CCL24_ENST00000222902.2_Missense_Mutation_p.Q71E	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	71					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						CAGAACTGCTGGCCCTTCTTG	0.612																																						uc011kga.2																			0				endometrium(1)|lung(2)	3						c.(211-213)Cag>Gag		Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.							84	70	75					7																	75441263		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity	g.chr7:75441263G>C	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"Chemokine ligands", "Endogenous ligands"	10623	protein-coding gene	gene with protein product	"CK-beta-6", "myeloid progenitor inhibitory factor 2", "eotaxin-2"	602495	"small inducible cytokine subfamily A (Cys-Cys), member 24"	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.211C>G	7.37:g.75441263G>C	ENSP00000400533:p.Gln71Glu		Somatic					p.Q71E	NM_002991	NP_002982	WXS	Illumina GAIIx	Phase_I	O00175	CCL24_HUMAN			2	270	-			71					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.211C>G	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	G	5.377	0.254886	0.10185	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.04654	3.58;3.58	4.33	3.43	0.39272	Chemokine interleukin-8-like domain (3);	1.572840	0.03766	N	0.258990	T	0.09818	0.0241	M	0.67953	2.075	0.20403	N	0.999908	B	0.28820	0.224	B	0.26094	0.066	T	0.40608	-0.9554	10	0.51188	T	0.08	.	10.4625	0.44587	0.0:0.1985:0.8015:0.0	.	71	O00175	CCL24_HUMAN	E	71	ENSP00000222902:Q71E;ENSP00000400533:Q71E	ENSP00000222902:Q71E	Q	-	1	0	CCL24	75279199	0.628000	0.27138	0.182000	0.23118	0.107000	0.19398	1.216000	0.32443	0.932000	0.37266	-0.315000	0.08773	CAG		0.612	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		3	97	0	0	0	1	0	3	97					C	75441263	G	C	75441263	3	2	170	1	0	0	0	0	1	0	0	0	2896	1357	47	4	150	4	CCL24	7	75441263	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		75441263	83697400	10	2970											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		65	50	0	0	0	1	0	65	50					T	140453136	A	T	140453136	3	4	170	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08	65011873	140453136	18685527	11	2971											
UBXN2B	137886	broad.mit.edu	37	8	59352245	59352245	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:59352245A>G	ENST00000399598.2	+	6	709	c.587A>G	c.(586-588)gAt>gGt	p.D196G		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	196	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGAATTTGGATATGGAGGAT	0.383																																						uc003xtl.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(586-588)gAt>gGt		Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.							109	102	104					8																	59352245		1846	4078	5924	SO:0001583	missense	137886					Golgi apparatus|cytosol|endoplasmic reticulum|nucleus		g.chr8:59352245A>G	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"UBX domain containing"	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.587A>G	8.37:g.59352245A>G	ENSP00000382507:p.Asp196Gly		Somatic					p.D196G	NM_001077619	NP_001071087	WXS	Illumina GAIIx	Phase_I	Q14CS0	UBX2B_HUMAN			5	709	+			196			SEP.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.587A>G	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574574	0.86542	.	.	ENSG00000215114	ENST00000399598	T	0.45276	0.9	5.42	5.42	0.78866	SEP domain (4);	0.000000	0.46145	U	0.000309	T	0.62307	0.2417	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.64428	-0.6410	10	0.54805	T	0.06	-23.9359	14.0397	0.64667	1.0:0.0:0.0:0.0	.	196	Q14CS0	UBX2B_HUMAN	G	196	ENSP00000382507:D196G	ENSP00000382507:D196G	D	+	2	0	UBXN2B	59514799	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	8.768000	0.91737	2.071000	0.62044	0.491000	0.48974	GAT		0.383	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		20	119	0	0	0	1	0	20	119					G	59352245	A	G	59352245	3	3	170	1	0	0	0	0	1	0	0	0	16912	333	12	3	609	3	UBXN2B	8	59352245	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		59352245	87011777	12	2972											
ENPP2	5168	broad.mit.edu	37	8	120650732	120650732	+	Silent	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr8:120650732A>G	ENST00000075322.6	-	2	127	c.69T>C	c.(67-69)aaT>aaC	p.N23N	ENPP2_ENST00000522826.1_Silent_p.N23N|ENPP2_ENST00000427067.2_Silent_p.N19N|ENPP2_ENST00000259486.6_Silent_p.N23N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	23				N -> S (in Ref. 1; AAA64785 and 5; ABW38316). {ECO:0000305}.	cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAAGCAGATATTGACTCCAA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(67-69)aaT>aaC		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							143	144	144					8																	120650732		2203	4300	6503	SO:0001819	synonymous_variant	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120650732A>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.69T>C	8.37:g.120650732A>G			Somatic				ENPP2_uc010mdd.2_Silent_p.N23N|ENPP2_uc003yot.2_Silent_p.N23N	p.N23N	NM_006209	NP_006200	WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		1	155	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		23	N -> S (in Ref. 1; AAA64785 and 5; ABW38316).				A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.69T>C	CCDS34936.1																																																																																				0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			38	128	0	0	0	1	0	38	128					G	120650732	A	G	120650732	2	3	170	1	0	0	0	0	0	0	0	1	5130	446	16	3		3	ENPP2	8	120650732	Silent	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08	61298487	120650732	25713290	13	2973											
OR1J2	26740	broad.mit.edu	37	9	125273586	125273586	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr9:125273586G>T	ENST00000335302.5	+	1	506	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCTTTCTGTGCTGCGAAC	0.522																																						uc004bmj.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(505-507)tGt>tTt		Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.							187	155	166					9																	125273586		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273586G>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.506G>T	9.37:g.125273586G>T	ENSP00000335575:p.Cys169Phe		Somatic				OR1J2_uc011lyv.2_Missense_Mutation_p.C169F	p.C169F	NM_054107	NP_473448	WXS	Illumina GAIIx	Phase_I	Q8NGS2	OR1J2_HUMAN			3	832	+			169					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.506G>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676232	0.29783	.	.	ENSG00000197233	ENST00000335302	T	0.00249	8.44	4.91	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000533	T	0.00300	0.0009	M	0.90814	3.15	0.27958	N	0.936891	B	0.14438	0.01	B	0.20384	0.029	T	0.38394	-0.9663	10	0.66056	D	0.02	.	6.5425	0.22388	0.1601:0.0:0.6939:0.1459	.	169	Q8NGS2	OR1J2_HUMAN	F	169	ENSP00000335575:C169F	ENSP00000335575:C169F	C	+	2	0	OR1J2	124313407	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	4.484000	0.60271	0.263000	0.21812	0.650000	0.86243	TGT		0.522	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			23	148	0	0	0	1	0	23	148					T	125273586	G	T	125273586	3	4	170	1	0	0	0	0	1	0	0	0	10960	1377	48	4	508	4	OR1J2	9	125273586	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		125273586	15939845	14	2974											
MLLT10	8028	broad.mit.edu	37	10	22022990	22022990	+	Silent	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr10:22022990T>C	ENST00000307729.7	+	20	2968	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	MLLT10_ENST00000377059.3_Silent_p.P930P|MLLT10_ENST00000446906.2_Silent_p.P930P|MLLT10_ENST00000377072.3_Silent_p.P946P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	930					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCCAGAACCCTACCCCTCTCA	0.438			T	"MLL, PICALM, CDK6"	AL																																	uc001iqt.3				Dom	yes		10	10p12	8028	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"			L	"MLL, PICALM, CDK6"		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2788-2790)ccT>ccC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.							118	98	105					10																	22022990		2203	4300	6503	SO:0001819	synonymous_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022990T>C	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2790T>C	10.37:g.22022990T>C			Somatic				MLLT10_uc001iqs.3_Silent_p.P946P|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc021pny.1_Silent_p.P930P|MLLT10_uc001ira.3_Silent_p.P387P|MLLT10_uc001irb.3_Non-coding_Transcript	p.P930P	NM_001195626	NP_001182555	WXS	Illumina GAIIx	Phase_I	P55197	AF10_HUMAN			19	3139	+			946					B1ANA8|Q5JT37|Q5VX90|Q66K63	Silent	SNP	ENST00000307729.7	37	c.2790T>C	CCDS55708.1																																																																																				0.438	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			3	81	0	0	0	1	0	3	81					C	22022990	T	C	22022990	2	2	170	1	0	0	0	0	0	0	0	1	9626	1509	53	3		3	MLLT10	10	22022990	Silent	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		22022990	113511757	15	2975											
LRRC56	115399	broad.mit.edu	37	11	552111	552111	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:552111C>G	ENST00000270115.7	+	12	1560	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	354										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGAGCAGCTGCCCCAACA	0.677																																						uc010qvz.2																			0				kidney(1)|lung(4)|skin(1)	6						c.(1060-1062)Ctg>Gtg		Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.							37	46	43					11																	552111		2201	4300	6501	SO:0001583	missense	115399							g.chr11:552111C>G		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1060C>G	11.37:g.552111C>G	ENSP00000270115:p.Leu354Val		Somatic					p.L354V	NM_198075	NP_932341	WXS	Illumina GAIIx	Phase_I	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1565	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	354					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.1060C>G	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721733	0.30503	.	.	ENSG00000161328	ENST00000270115	T	0.13901	2.55	4.38	-0.826	0.10805	.	0.356051	0.19991	N	0.101562	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	P	0.42908	0.793	B	0.43754	0.43	T	0.17653	-1.0362	10	0.62326	D	0.03	-27.0464	4.5887	0.12295	0.149:0.488:0.0:0.363	.	354	Q8IYG6	LRC56_HUMAN	V	354	ENSP00000270115:L354V	ENSP00000270115:L354V	L	+	1	2	LRRC56	542111	0.268000	0.24133	0.066000	0.19879	0.071000	0.16799	0.476000	0.22180	-0.026000	0.13895	-0.254000	0.11334	CTG		0.677	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		33	84	0	0	0	1	0	33	84					G	552111	C	G	552111	3	3	170	1	0	0	0	0	1	0	0	0	9012	796	28	4	1094	4	LRRC56	11	552111	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		552111	134454405	16	2976											
CASP4	837	broad.mit.edu	37	11	104825694	104825694	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr11:104825694C>T	ENST00000444739.2	-	2	952	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CASP4_ENST00000393150.3_5'UTR|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	14	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCAGGGATTCCAACACCTTAA	0.388																																						uc001pid.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(40-42)ttG>ttA		Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.							94	89	91					11																	104825694		2202	4299	6501	SO:0001819	synonymous_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104825694C>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.42G>A	11.37:g.104825694C>T			Somatic				CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.L14L|CASP4_uc010ruy.1_Silent_p.L14L	p.L14L	NM_001225	NP_150649	WXS	Illumina GAIIx	Phase_I	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	1	115	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	14			CARD.		A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	c.42G>A	CCDS8327.1																																																																																				0.388	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		27	63	0	0	0	1	0	27	63					T	104825694	C	T	104825694	2	4	170	1	0	0	0	0	0	0	0	1	2673	593	21	2		2	CASP4	11	104825694	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	104273583	104825694	30180822	17	2977											
MBD6	114785	broad.mit.edu	37	12	57921648	57921648	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:57921648A>G	ENST00000355673.3	+	9	2610	c.2254A>G	c.(2254-2256)Acc>Gcc	p.T752A	MBD6_ENST00000431731.2_Missense_Mutation_p.T752A	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	752	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCTTCACTGACCAGCAGCCC	0.577																																						uc001soj.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2254-2256)Acc>Gcc		Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.							102	111	108					12																	57921648		2202	4299	6501	SO:0001583	missense	114785					chromosome|nucleus	DNA binding|chromatin binding	g.chr12:57921648A>G	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2254A>G	12.37:g.57921648A>G	ENSP00000347896:p.Thr752Ala		Somatic				MBD6_uc001sok.1_Missense_Mutation_p.T619A|MBD6_uc001sol.1_Non-coding_Transcript	p.T752A	NM_052897	NP_443129	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			8	2478	+			752			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.2254A>G	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301780	0.23736	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.94	3.75	0.43078	.	0.538304	0.15939	N	0.237289	T	0.21468	0.0517	N	0.08118	0	0.26943	N	0.966194	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16394	-1.0404	9	0.23302	T	0.38	-2.8222	8.9734	0.35921	0.9124:0.0:0.0876:0.0	.	752;752	Q6P0P0;Q96DN6	.;MBD6_HUMAN	A	752;752;216	.	ENSP00000300263:T216A	T	+	1	0	MBD6	56207915	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.818000	0.48041	0.968000	0.38212	0.459000	0.35465	ACC		0.577	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			3	238	0	0	0	1	0	3	238					G	57921648	A	G	57921648	3	3	170	1	0	0	0	0	1	0	0	0	9348	275	10	3	2280	3	MBD6	12	57921648	Missense_Mutation	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		57921648	75930247	18	2978											
GCN1L1	10985	broad.mit.edu	37	12	120572142	120572142	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:120572142G>A	ENST00000300648.6	-	53	7282	c.7270C>T	c.(7270-7272)Cgg>Tgg	p.R2424W		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2424					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTTTTTCCGGATGACGGCA	0.592																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7270-7272)Cgg>Tgg		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							119	121	120					12																	120572142		2122	4230	6352	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120572142G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7270C>T	12.37:g.120572142G>A	ENSP00000300648:p.Arg2424Trp		Somatic					p.R2424W	NM_006836	NP_006827	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			52	7283	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2424					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.7270C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887564	0.72410	.	.	ENSG00000089154	ENST00000300648	T	0.64803	-0.12	5.5	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.89095	3.005	0.80722	D	1	D	0.64830	0.994	P	0.48815	0.591	T	0.81129	-0.1073	10	0.87932	D	0	-25.4064	14.1936	0.65654	0.0:0.0:0.5127:0.4873	.	2424	Q92616	GCN1L_HUMAN	W	2424	ENSP00000300648:R2424W	ENSP00000300648:R2424W	R	-	1	2	GCN1L1	119056525	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	3.123000	0.50453	1.288000	0.44600	0.511000	0.50034	CGG		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			10	98	0	0	0	1	0	10	98					A	120572142	G	A	120572142	3	1	170	1	0	0	0	0	1	0	0	0	6299	1115	39	1	769	1	GCN1L1	12	120572142	Missense_Mutation	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	62650494	120572142	13279753	19	2979											
CAMKK2	10645	broad.mit.edu	37	12	121706441	121706441	+	Splice_Site	SNP	G	G	A	rs200886794		TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr12:121706441G>A	ENST00000324774.5	-	5	1453	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	CAMKK2_ENST00000337174.3_Splice_Site_p.R209C|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000404169.3_Splice_Site_p.R209C|CAMKK2_ENST00000347034.2_Splice_Site_p.R209C|CAMKK2_ENST00000402834.4_Splice_Site_p.R209C|CAMKK2_ENST00000446440.2_Splice_Site_p.R209C|CAMKK2_ENST00000392473.2_Splice_Site_p.R209C|CAMKK2_ENST00000538733.1_Splice_Site_p.R209C|CAMKK2_ENST00000412367.2_Splice_Site_p.R209C|CAMKK2_ENST00000392474.2_Splice_Site_p.R209C	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RP domain.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAAACTCACGTGGAAAGCCG	0.552																																						uc001tzu.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.e5+1		Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.							148	143	145					12																	121706441		2203	4300	6503	SO:0001630	splice_region_variant	10645				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121706441G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.625+1C>T	12.37:g.121706441G>A			Somatic				CAMKK2_uc001tzt.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzv.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzw.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzx.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzy.3_Splice_Site_p.R209_splice|CAMKK2_uc001uaa.1_Splice_Site_p.R209_splice|CAMKK2_uc001uab.3_Splice_Site_p.R209_splice|CAMKK2_uc001uac.3_Splice_Site_p.R209_splice	p.R209_splice	NM_006549	NP_006540	WXS	Illumina GAIIx	Phase_I	Q96RR4	KKCC2_HUMAN			5	800	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		209			Protein kinase.|RP domain.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Splice_Site	SNP	ENST00000324774.5	37	c.625_splice	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825996	0.90955	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.99	4.99	0.66335	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	0.81327	0.4799	M	0.70842	2.15	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.983;0.988;0.993;0.993;0.993;0.996;0.993	D	0.83522	0.0086	10	0.87932	D	0	4.9114	17.3098	0.87206	0.0:0.0:1.0:0.0	.	209;209;209;209;209;209;209	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	C	209;209;209;209;209;209;209;192;209;209	ENSP00000376266:R209C;ENSP00000321230:R209C;ENSP00000445944:R209C;ENSP00000336634:R209C;ENSP00000312741:R209C;ENSP00000388368:R209C;ENSP00000384600:R209C;ENSP00000388273:R209C;ENSP00000376265:R209C	ENSP00000312741:R209C	R	-	1	0	CAMKK2	120190824	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	8.890000	0.92477	2.522000	0.85027	0.558000	0.71614	CGT		0.552	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226	Missense_Mutation	114	154	0	0	0	1	0	114	154					A	121706441	G	A	121706441	5	1	170	1	0	0	0	0	0	0	1	0	2607	1159	40	1	1203	1	CAMKK2	12	121706441	Splice_Site	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	1134299	121706441	12145454	20	2980											
DACH1	1602	broad.mit.edu	37	13	72204797	72204797	+	Silent	SNP	A	A	G			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr13:72204797A>G	ENST00000359684.2	-	3	1022	c.1023T>C	c.(1021-1023)gcT>gcC	p.A341A	DACH1_ENST00000313174.7_Silent_p.A341A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Silent_p.A341A			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	341	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTGCTTcagcaatagctg	0.393																																						uc021rkj.1																			0		p.A341V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1021-1023)gcT>gcC		Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.							140	127	131					13																	72204797		1830	4080	5910	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204797A>G	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1023T>C	13.37:g.72204797A>G			Somatic				DACH1_uc021rkk.1_Silent_p.A341A|DACH1_uc021rkl.1_Intron	p.A341A	NM_080759	NP_542937	WXS	Illumina GAIIx	Phase_I	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	2	1446	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	339			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1023T>C																																																																																					0.393	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		3	208	0	0	0	1	0	3	208					G	72204797	A	G	72204797	2	3	170	1	0	0	0	0	0	0	0	1	4220	175	7	3		3	DACH1	13	72204797	Silent	SNP	A	TCGA-EL-A3D0-01A-12D-A202-08		72204797	42965081	21	2981											
LRRC16B	90668	broad.mit.edu	37	14	24538027	24538027	+	Silent	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr14:24538027C>T	ENST00000342740.5	+	38	3988	c.3834C>T	c.(3832-3834)ccC>ccT	p.P1278P	CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000537691.1_5'Flank|CPNE6_ENST00000397016.2_5'Flank|LRRC16B_ENST00000334420.7_Silent_p.P331P	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1278						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CATGGCCTCCCAAGCCAGTGG	0.637																																						uc001wlj.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(3832-3834)ccC>ccT		Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.							24	25	25					14																	24538027		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24538027C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3834C>T	14.37:g.24538027C>T			Somatic				LRRC16B_uc001wlk.2_Silent_p.P331P|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	p.P1278P	NM_138360	NP_612369	WXS	Illumina GAIIx	Phase_I	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	37	3991	+			1278					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.3834C>T	CCDS32054.1																																																																																				0.637	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		9	32	0	0	0	1	0	9	32					T	24538027	C	T	24538027	2	4	170	1	0	0	0	0	0	0	0	1	8972	581	21	2		2	LRRC16B	14	24538027	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		24538027	82811513	22	2982											
SNX22	79856	broad.mit.edu	37	15	64446698	64446698	+	Silent	SNP	G	G	A	rs143435068	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr15:64446698G>A	ENST00000325881.4	+	7	632	c.573G>A	c.(571-573)ccG>ccA	p.P191P	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	191				P -> L (in Ref. 2; BAB14776). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			large_intestine(3)|lung(1)|urinary_tract(2)	6						CTCTGCCACCGATGCCCTGAT	0.572													G|||	2	0.000399361	0	0	5008	,	,		20483	0		0.002	False		,,,				2504	0					uc002anc.1																			0				large_intestine(3)|lung(1)|urinary_tract(2)	6						c.(571-573)ccG>ccA		Homo sapiens sorting nexin 22 (SNX22), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	121	119	120		573	-5.4	0.0	15	dbSNP_134	120	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	SNX22	NM_024798.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		191/194	64446698	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446698G>A	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"Sorting nexins"	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.573G>A	15.37:g.64446698G>A			Somatic				SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_Non-coding_Transcript|SNX22_uc021sow.1_5'Flank	p.P191P	NM_024798	NP_079074	WXS	Illumina GAIIx	Phase_I	Q96L94	SNX22_HUMAN			6	632	+			191	P -> L (in Ref. 2; BAB14776).				Q8WUS9|Q9H844	Silent	SNP	ENST00000325881.4	37	c.573G>A	CCDS10190.1																																																																																				0.572	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798		129	134	0	0	0	1	0	129	134					A	64446698	G	A	64446698	2	1	170	1	0	0	0	0	0	0	0	1	14894	1045	37	1		1	SNX22	15	64446698	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		64446698	38084694	23	2983											
PRSS53	339105	broad.mit.edu	37	16	31096483	31096483	+	Nonsense_Mutation	SNP	C	C	A	rs375690216	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr16:31096483C>A	ENST00000280606.6	-	7	1135	c.982G>T	c.(982-984)Gga>Tga	p.G328*		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	328	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						ACCAGGGCTCCGCCACAGGCC	0.667																																						uc002eaq.3																			0				large_intestine(1)|lung(3)	4						c.(982-984)Gga>Tga		Homo sapiens protease, serine, 53 (PRSS53), mRNA.							23	28	26					16																	31096483		2091	4218	6309	SO:0001587	stop_gained	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31096483C>A		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"Serine peptidases / Serine peptidases"	34407	protein-coding gene	gene with protein product	"polyserase 3"	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.982G>T	16.37:g.31096483C>A	ENSP00000280606:p.Gly328*		Somatic				PRSS53_uc002ear.3_Nonsense_Mutation_p.G122*	p.G328*	NM_001039503	NP_001034592	WXS	Illumina GAIIx	Phase_I	Q2L4Q9	PRS53_HUMAN			6	982	-			328			Peptidase S1 2.			Nonsense_Mutation	SNP	ENST00000280606.6	37	c.982G>T	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	C	37	6.307282	0.97462	.	.	ENSG00000151006	ENST00000280606	.	.	.	5.75	5.75	0.90469	.	0.000000	0.36066	U	0.002812	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7132	0.91666	0.0:1.0:0.0:0.0	.	.	.	.	X	328	.	ENSP00000280606:G328X	G	-	1	0	PRSS53	31003984	0.997000	0.39634	0.974000	0.42286	0.952000	0.60782	4.058000	0.57463	2.720000	0.93068	0.655000	0.94253	GGA		0.667	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		3	22	0	0	0	1	0	3	22					A	31096483	C	A	31096483	4	1	170	1	0	0	0	0	0	1	0	0	12632	661	23	4	699	4	PRSS53	16	31096483	Nonsense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		31096483	59258270	24	2984											
ABCA5	23461	broad.mit.edu	37	17	67287453	67287453	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr17:67287453T>C	ENST00000392676.3	-	12	1574	c.1510A>G	c.(1510-1512)Ata>Gta	p.I504V	ABCA5_ENST00000588877.1_Missense_Mutation_p.I504V|ABCA5_ENST00000392677.2_Missense_Mutation_p.I504V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	504	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCCTCATATATGTCAAATGAC	0.363																																						uc002jif.2																			0		p.D503Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(1510-1512)Ata>Gta		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.							80	76	78					17																	67287453		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67287453T>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1510A>G	17.37:g.67287453T>C	ENSP00000376443:p.Ile504Val		Somatic				ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.I504V|ABCA5_uc002jih.2_Missense_Mutation_p.I504V|ABCA5_uc010dfe.2_Missense_Mutation_p.I504V	p.I504V	NM_018672	NP_758424	WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			10	2728	-	Breast(10;3.72e-11)		504			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1510A>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184989	0.57909	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.93604	-3.25;-3.25	5.56	5.56	0.83823	ABC transporter-like (1);	0.083145	0.50627	D	0.000104	D	0.86075	0.5846	N	0.12853	0.265	0.58432	D	0.999999	P;P	0.40794	0.729;0.657	B;B	0.37731	0.254;0.257	D	0.85839	0.1396	9	.	.	.	.	15.3665	0.74526	0.0:0.0:0.0:1.0	.	504;504	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	504	ENSP00000376444:I504V;ENSP00000376443:I504V	.	I	-	1	0	ABCA5	64799048	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.338000	0.79269	2.101000	0.63845	0.482000	0.46254	ATA		0.363	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		9	38	0	0	0	1	0	9	38					C	67287453	T	C	67287453	3	2	170	1	0	0	0	0	1	0	0	0	35	1464	51	3	3530	3	ABCA5	17	67287453	Missense_Mutation	SNP	T	TCGA-EL-A3D0-01A-12D-A202-08		67287453	13907757	25	2985											
C19orf29	58509	broad.mit.edu	37	19	3612148	3612148	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:3612148C>A	ENST00000429344.2	-	10	2102	c.2050G>T	c.(2050-2052)Gac>Tac	p.D684Y	CACTIN_ENST00000248420.5_Missense_Mutation_p.D684Y|CACTIN_ENST00000221899.3_Missense_Mutation_p.D616Y|CACTIN-AS1_ENST00000592274.1_RNA	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	684					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCGATGAGGTCGGGGTAGAAG	0.592																																						uc002lyh.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15						c.(2050-2052)Gac>Tac		Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.							145	165	158					19																	3612148		2144	4234	6378	SO:0001583	missense	58509					catalytic step 2 spliceosome	protein binding	g.chr19:3612148C>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2050G>T	19.37:g.3612148C>A	ENSP00000415078:p.Asp684Tyr		Somatic				C19orf29-AS1_uc021umw.1_Silent_p.V119V|C19orf29_uc010xho.2_Missense_Mutation_p.D143Y|C19orf29_uc010dtn.3_Missense_Mutation_p.D532Y|C19orf29_uc002lyi.4_Missense_Mutation_p.D684Y|C19orf29_uc010dto.3_Non-coding_Transcript	p.D684Y	NM_001080543	NP_067054	WXS	Illumina GAIIx	Phase_I	Q8WUQ7	CS029_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2103	-		Hepatocellular(1079;0.137)	684					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2050G>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543469	0.86022	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.2	4.2	0.49525	Cactin protein, cactus-binding domain, C-terminal (1);	0.053048	0.64402	D	0.000001	D	0.84447	0.5474	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88229	0.2902	9	0.87932	D	0	.	15.6393	0.76984	0.0:1.0:0.0:0.0	.	684;684	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	Y	684;684;616	.	ENSP00000221899:D616Y	D	-	1	0	C19orf29	3563148	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.259000	0.78381	2.339000	0.79563	0.643000	0.83706	GAC		0.592	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			47	190	0	0	0	1	0	47	190					A	3612148	C	A	3612148	3	1	170	1	0	0	0	0	1	0	0	0	1918	884	31	4	230	4	C19orf29	19	3612148	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08		3612148	55516835	26	2986											
FBN3	84467	broad.mit.edu	37	19	8196578	8196578	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:8196578C>T	ENST00000600128.1	-	15	2264	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	FBN3_ENST00000601739.1_Missense_Mutation_p.R617H|FBN3_ENST00000270509.2_Missense_Mutation_p.R617H			Q75N90	FBN3_HUMAN	fibrillin 3	617						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGGTGCTGCGCACGTGGGT	0.677																																						uc002mjf.3																			0		p.V616V(1)|p.V616E(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1849-1851)cGc>cAc		Homo sapiens fibrillin 3 (FBN3), mRNA.							46	44	45					19																	8196578		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196578C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1850G>A	19.37:g.8196578C>T	ENSP00000470498:p.Arg617His		Somatic					p.R617H	NM_032447	NP_115823	WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			13	1867	-			617					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1850G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.74	2.626523	0.46840	.	.	ENSG00000142449	ENST00000270509	D	0.88046	-2.33	3.02	1.96	0.26148	Matrix fibril-associated (2);	0.000000	0.85682	U	0.000000	D	0.85435	0.5696	M	0.85630	2.765	0.40734	D	0.982779	B	0.29432	0.244	B	0.21151	0.033	T	0.80482	-0.1363	10	0.42905	T	0.14	.	9.7245	0.40324	0.0:0.8929:0.0:0.1071	.	617	Q75N90	FBN3_HUMAN	H	617	ENSP00000270509:R617H	ENSP00000270509:R617H	R	-	2	0	FBN3	8102578	1.000000	0.71417	0.646000	0.29493	0.065000	0.16274	4.003000	0.57061	0.252000	0.21531	0.185000	0.17295	CGC		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	62	0	0	0	1	0	14	62					T	8196578	C	T	8196578	3	4	170	1	0	0	0	0	1	0	0	0	5704	768	27	1	6779	1	FBN3	19	8196578	Missense_Mutation	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	4584430	8196578	50932405	27	2987											
EHD2	30846	broad.mit.edu	37	19	48244668	48244668	+	Silent	SNP	C	C	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:48244668C>A	ENST00000263277.3	+	6	1862	c.1611C>A	c.(1609-1611)cgC>cgA	p.R537R	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.R401R	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	537	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCAAGCGACGCCACAAGGGCT	0.716																																						uc002phj.4																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1609-1611)cgC>cgA		Homo sapiens EH-domain containing 2 (EHD2), mRNA.							10	11	11					19																	48244668		2192	4284	6476	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding	g.chr19:48244668C>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1611C>A	19.37:g.48244668C>A			Somatic				EHD2_uc010xyu.2_Silent_p.R401R	p.R537R	NM_014601	NP_055416	WXS	Illumina GAIIx	Phase_I	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	5	1861	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	537			EH.		B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.1611C>A	CCDS12704.1																																																																																				0.716	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			9	9	0	0	0	1	0	9	9					A	48244668	C	A	48244668	2	1	170	1	0	0	0	0	0	0	0	1	4978	726	26	4		4	EHD2	19	48244668	Silent	SNP	C	TCGA-EL-A3D0-01A-12D-A202-08	40048090	48244668	10884315	28	2988											
MYBPC2	4606	broad.mit.edu	37	19	50957538	50957538	+	Silent	SNP	G	G	A	rs558923030	byFrequency	TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr19:50957538G>A	ENST00000357701.5	+	18	1977	c.1926G>A	c.(1924-1926)ccG>ccA	p.P642P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	642	Fibronectin type-III 1. {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)		CAGACCCCCCGGAGGCTGTGC	0.647													g|||	7	0.00139776	0	0	5008	,	,		14805	0		0	False		,,,				2504	0.0072					uc002psf.2																			0				breast(1)	1						c.(1924-1926)ccG>ccA		Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.							38	40	39					19																	50957538		1994	4154	6148	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50957538G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1926G>A	19.37:g.50957538G>A			Somatic					p.P642P	NM_004533	NP_004524	WXS	Illumina GAIIx	Phase_I	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	17	1977	+		all_neural(266;0.057)	642			Fibronectin type-III 1.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.1926G>A	CCDS46152.1																																																																																				0.647	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		6	65	0	0	0	1	0	6	65					A	50957538	G	A	50957538	2	1	170	1	0	0	0	0	0	0	0	1	10012	1103	39	1		1	MYBPC2	19	50957538	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08	2712870	50957538	8171445	29	2989											
SLC12A5	57468	broad.mit.edu	37	20	44666024	44666024	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr20:44666024G>A	ENST00000454036.2	+	6	730	c.681G>A	c.(679-681)ctG>ctA	p.L227L	SLC12A5_ENST00000372315.1_Splice_Site_p.L204L|SLC12A5_ENST00000243964.3_Splice_Site_p.L204L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	227					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)	AAATCCTGCTGGTAAGAGAGG	0.582																																						uc010zxl.1																			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.e6+1		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						61	52	55					20																	44666024		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44666024G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.681+1G>A	20.37:g.44666024G>A			Somatic				SLC12A5_uc002xra.2_Splice_Site_p.L204_splice|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Splice_Site_p.L204_splice	p.L227_splice	NM_001134771	NP_001128243	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			6	757	+		Myeloproliferative disorder(115;0.0122)	227					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.681_splice	CCDS46610.1																																																																																				0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Silent	3	37	0	0	0	1	0	3	37					A	44666024	G	A	44666024	5	1	170	1	0	0	0	0	0	0	1	0	14386	1362	47	2	759	2	SLC12A5	20	44666024	Splice_Site	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		44666024	18359496	30	2990											
KRTAP10-5	386680	broad.mit.edu	37	21	45999781	45999781	+	Silent	SNP	G	G	A			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chr21:45999781G>A	ENST00000400372.1	-	1	700	c.675C>T	c.(673-675)tgC>tgT	p.C225C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	225	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ATATGGGGCGGCAGAGGAGGG	0.682																																						uc002zfl.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(673-675)tgC>tgT		Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.							69	80	76					21																	45999781		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999781G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.675C>T	21.37:g.45999781G>A			Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.C225C	NM_198694	NP_941967	WXS	Illumina GAIIx	Phase_I	P60370	KR105_HUMAN			0	701	-			225			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.675C>T	CCDS42958.1																																																																																				0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			4	165	0	0	0	1	0	4	165					A	45999781	G	A	45999781	2	1	170	1	0	0	0	0	0	0	0	1	8512	1195	42	2		2	KRTAP10-5	21	45999781	Silent	SNP	G	TCGA-EL-A3D0-01A-12D-A202-08		45999781	2130114	31	2991											
BCOR	54880	broad.mit.edu	37	X	39923030	39923031	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3D0-01A-12D-A202-08	TCGA-EL-A3D0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4830f1eb-187d-428d-9652-492ef217f80d	d52a3420-e2c5-4188-bd7e-6f11cda56e45	g.chrX:39923030_39923031insT	ENST00000378444.4	-	8	3905_3906	c.3677_3678insA	c.(3676-3678)gatfs	p.D1226fs	BCOR_ENST00000378455.4_Frame_Shift_Ins_p.D1174fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.D1192fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.D1192fs|BCOR_ENST00000378463.1_Frame_Shift_Ins_p.D69fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1226					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						CAGGTTTGCCATCTGCTGCCGA	0.54			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		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.(3676-3678)gatfs		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.																																				SO:0001589	frameshift_variant	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:39923030_39923031insT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3678dupA	X.37:g.39923031_39923031dupT	ENSP00000367705:p.Asp1226fs		Somatic				BCOR_uc004dep.4_Frame_Shift_Ins_p.D1192fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.D1174fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Ins_p.D1192fs	p.D1226fs	NM_001123385	NP_001116857	WXS	Illumina GAIIx	Phase_I	Q6W2J9	BCOR_HUMAN			7	3969_3970	-			1226					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.3677_3678insA	CCDS48093.1																																																																																				0.54	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		59	42						59	42	---	---	---	---	T	39923031	-	T	39923030	7	5	170	1	0	1	1	0	0	0	0	0	1386	214	8	0	1621	0	BCOR	23	39923030	Frame_Shift_Ins	INS	-	TCGA-EL-A3D0-01A-12D-A202-08		39923030	115347530	32	2992											
IL7R	3575	broad.mit.edu	37	5	35876286	35876286	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr5:35876286A>G	ENST00000303115.3	+	8	1207	c.1078A>G	c.(1078-1080)Agc>Ggc	p.S360G	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	360					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CACTCCAGAAAGCTTTGGAAG	0.527			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1078-1080)Agc>Ggc		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							86	82	84					5																	35876286		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876286A>G	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1078A>G	5.37:g.35876286A>G	ENSP00000306157:p.Ser360Gly		Somatic				IL7R_uc011cop.2_Non-coding_Transcript	p.S360G	NM_002185	NP_002176	WXS	Illumina GAIIx	Phase_I	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	1167	+	all_lung(31;0.00015)		360					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1078A>G	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	A	7.614	0.675414	0.14841	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.33216	1.76;1.42	5.6	2.9	0.33743	.	0.711927	0.13666	N	0.371248	T	0.15132	0.0365	N	0.08118	0	0.29299	N	0.868836	B	0.17038	0.02	B	0.14023	0.01	T	0.12426	-1.0548	10	0.44086	T	0.13	-12.2223	7.1388	0.25543	0.797:0.0:0.203:0.0	.	360	P16871	IL7RA_HUMAN	G	360;126	ENSP00000306157:S360G;ENSP00000420923:S126G	ENSP00000306157:S360G	S	+	1	0	IL7R	35912043	0.024000	0.19004	0.577000	0.28562	0.053000	0.15095	0.294000	0.19047	0.949000	0.37715	0.533000	0.62120	AGC		0.527	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			28	40	0	0	0	1	0	28	40					G	35876286	A	G	35876286	3	3	171	1	0	0	0	0	1	0	0	0	7705	72	3	3	1108	3	IL7R	5	35876286	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		35876286	145038974	1	2993											
GIGYF1	64599	broad.mit.edu	37	7	100280993	100280994	+	Frame_Shift_Del	DEL	GC	GC	-	rs202101717		TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr7:100280993_100280994delGC	ENST00000275732.5	-	18	3335_3336	c.2126_2127delGC	c.(2125-2127)cgcfs	p.R710fs	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	710					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.R428H(1)|p.R709H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTGCTGGCGGCGCTTCTCCTC	0.649																																						uc003uwg.1																			2	Substitution - Missense(2)	p.R709H(2)|p.R428H(1)	prostate(2)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2125-2127)cgcfs		Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.																																				SO:0001589	frameshift_variant	64599							g.chr7:100280993_100280994delGC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2126_2127delGC	7.37:g.100280995_100280996delGC	ENSP00000275732:p.Arg710fs		Somatic					p.R709fs	NM_022574	NP_072096	WXS	Illumina GAIIx	Phase_I	O75420	PERQ1_HUMAN			17	3135_3136	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		709					Q6Y7W7|Q8WZ38	Frame_Shift_Del	DEL	ENST00000275732.5	37	c.2126_2127delGC	CCDS34708.1																																																																																				0.649	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		83	138						83	138	---	---	---	---	-	100280994	GC	-	100280993	7	5	171	1	0	1	0	1	0	0	0	0	6377	1190	42	0	1008	0	GIGYF1	7	100280993	Frame_Shift_Del	DEL	GC	TCGA-EL-A3D1-01A-11D-A19J-08		100280993	58857670	2	2994											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	48	0	0	0	1	0	40	48					T	140453136	A	T	140453136	3	4	171	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08	40172143	140453136	18685527	3	2995											
ABCA2	20	broad.mit.edu	37	9	139914928	139914928	+	Silent	SNP	G	G	A			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr9:139914928G>A	ENST00000371605.3	-	9	1429	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L	ABCA2_ENST00000341511.6_Silent_p.L429L|ABCA2_ENST00000265662.5_Silent_p.L429L|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	428					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCCGCCGCAGCGCCTCGGGT	0.682																																						uc004ckm.1																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1372-1374)Ctg>Ttg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.							35	47	43					9																	139914928		2069	4184	6253	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139914928G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1282C>T	9.37:g.139914928G>A			Somatic				ABCA2_uc022bpy.1_Silent_p.L359L|ABCA2_uc022bpz.1_Silent_p.L429L|ABCA2_uc011mem.1_Silent_p.L428L|ABCA2_uc004ckl.1_Silent_p.L359L|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Silent_p.L205L|ABCA2_uc010nca.3_Silent_p.L359L	p.L458L	NM_212533	NP_997698	WXS	Illumina GAIIx	Phase_I	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	9	1422	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	428					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.1372C>T		.	.	.	.	.	.	.	.	.	.	G	10.12	1.262715	0.23051	.	.	ENSG00000107331	ENST00000470535	T	0.54279	0.58	4.64	3.73	0.42828	.	.	.	.	.	T	0.62563	0.2438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63088	-0.6715	6	0.46703	T	0.11	.	13.0183	0.58771	0.0803:0.0:0.9197:0.0	.	.	.	.	V	39	ENSP00000420289:A39V	ENSP00000420289:A39V	A	-	2	0	ABCA2	139034749	1.000000	0.71417	0.329000	0.25429	0.880000	0.50808	3.076000	0.50081	0.915000	0.36847	0.462000	0.41574	GCT		0.682	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		13	38	0	0	0	1	0	13	38					A	139914928	G	A	139914928	2	1	171	1	0	0	0	0	0	0	0	1	32	962	34	2		2	ABCA2	9	139914928	Silent	SNP	G	TCGA-EL-A3D1-01A-11D-A19J-08		139914928	1298503	4	2996											
LYZ	4069	broad.mit.edu	37	12	69743921	69743921	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3D1-01A-11D-A19J-08	TCGA-EL-A3D1-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d173b533-5eae-46e3-b624-9fa47623fb54	941d8f35-a642-4478-b457-e05547d484bc	g.chr12:69743921A>T	ENST00000261267.2	+	2	238	c.170A>T	c.(169-171)aAc>aTc	p.N57I	LYZ_ENST00000549690.1_Missense_Mutation_p.N57I|LYZ_ENST00000548839.1_Missense_Mutation_p.N57I	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	57					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	AGTGGTTACAACACACGAGCT	0.398																																						uc001suw.2																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(169-171)aAc>aTc		Homo sapiens lysozyme (LYZ), mRNA.							133	120	125					12																	69743921		2203	4300	6503	SO:0001583	missense	4069				cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	g.chr12:69743921A>T	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"renal amyloidosis"	153450	"lysozyme (renal amyloidosis)"			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	ENST00000261267.2:c.170A>T	12.37:g.69743921A>T	ENSP00000261267:p.Asn57Ile		Somatic					p.N57I	NM_000239	NP_000230	WXS	Illumina GAIIx	Phase_I	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		1	225	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		57					P00695|Q13170|Q9UCF8	Missense_Mutation	SNP	ENST00000261267.2	37	c.170A>T	CCDS8989.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451163	0.43531	.	.	ENSG00000090382	ENST00000261267;ENST00000549690;ENST00000548839	T;T;T	0.80214	-1.35;-1.35;-1.35	5.94	5.94	0.96194	Lysozyme-like domain (1);	0.250666	0.45126	D	0.000383	D	0.91656	0.7363	M	0.93808	3.46	0.46927	D	0.999251	D	0.58970	0.984	D	0.66084	0.941	D	0.93516	0.6857	9	.	.	.	.	14.3596	0.66761	1.0:0.0:0.0:0.0	.	57	P61626	LYSC_HUMAN	I	57	ENSP00000261267:N57I;ENSP00000449898:N57I;ENSP00000449969:N57I	.	N	+	2	0	LYZ	68030188	0.987000	0.35691	0.306000	0.25113	0.039000	0.13416	4.463000	0.60128	2.275000	0.75901	0.528000	0.53228	AAC		0.398	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	NM_000239		38	50	0	0	0	1	0	38	50					T	69743921	A	T	69743921	3	4	171	1	0	0	0	0	1	0	0	0	9130	43	2	5	176	5	LYZ	12	69743921	Missense_Mutation	SNP	A	TCGA-EL-A3D1-01A-11D-A19J-08		69743921	64107974	5	2997											
RBM15B	29890	broad.mit.edu	37	3	51429678	51429678	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr3:51429678C>T	ENST00000323686.4	+	1	948	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	283					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		cgtcacgccgccgcagccttc	0.746																																						uc003dbd.3																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(847-849)gCc>gTc		Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.							8	9	9					3																	51429678		2124	4175	6299	SO:0001583	missense	29890				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding	g.chr3:51429678C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.848C>T	3.37:g.51429678C>T	ENSP00000313890:p.Ala283Val		Somatic					p.A283V	NM_013286	NP_037418	WXS	Illumina GAIIx	Phase_I	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	0	980	+			283					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.848C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656182	0.47467	.	.	ENSG00000179837	ENST00000323686	T	0.16073	2.37	4.65	4.65	0.58169	.	.	.	.	.	T	0.14184	0.0343	N	0.20986	0.625	0.40999	D	0.984917	B	0.18461	0.028	B	0.13407	0.009	T	0.07083	-1.0791	9	0.36615	T	0.2	.	17.9111	0.88934	0.0:1.0:0.0:0.0	.	283	Q8NDT2	RB15B_HUMAN	V	283	ENSP00000313890:A283V	ENSP00000313890:A283V	A	+	2	0	RBM15B	51404718	0.841000	0.29509	0.782000	0.31804	0.672000	0.39443	3.404000	0.52623	2.302000	0.77476	0.561000	0.74099	GCC		0.746	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		4	12	0	0	0	1	0	4	12					T	51429678	C	T	51429678	3	4	172	1	0	0	0	0	1	0	0	0	13117	739	26	2	850	2	RBM15B	3	51429678	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		51429678	146592752	1	2998											
OR2B2	81697	broad.mit.edu	37	6	27879286	27879286	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr6:27879286C>T	ENST00000303324.2	-	1	888	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	271						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						AACCATCTTTCCCCGGTCTTT	0.443																																						uc011dkw.2																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(811-813)gGa>gAa		Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.							83	79	80					6																	27879286		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879286C>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.812G>A	6.37:g.27879286C>T	ENSP00000304419:p.Gly271Glu		Somatic					p.G271E	NM_033057	NP_149046	WXS	Illumina GAIIx	Phase_I	Q9GZK3	OR2B2_HUMAN			0	889	-			271					B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.812G>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505405	0.26949	.	.	ENSG00000168131	ENST00000303324	T	0.00058	8.79	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001569	T	0.00144	0.0004	L	0.46885	1.475	0.09310	N	1	D	0.56746	0.977	P	0.60541	0.876	T	0.19095	-1.0316	10	0.87932	D	0	.	9.0305	0.36256	0.0:0.8951:0.0:0.1049	.	271	Q9GZK3	OR2B2_HUMAN	E	271	ENSP00000304419:G271E	ENSP00000304419:G271E	G	-	2	0	OR2B2	27987265	0.000000	0.05858	0.990000	0.47175	0.255000	0.26057	-0.005000	0.12855	2.371000	0.80710	0.563000	0.77884	GGA		0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			5	84	0	0	0	1	0	5	84					T	27879286	C	T	27879286	3	4	172	1	0	0	0	0	1	0	0	0	10989	855	30	2	265	2	OR2B2	6	27879286	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		27879286	143235781	2	2999											
ERMP1	79956	broad.mit.edu	37	9	5812998	5812998	+	Silent	SNP	T	T	C			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:5812998T>C	ENST00000339450.5	-	5	1001	c.912A>G	c.(910-912)tcA>tcG	p.S304S	ERMP1_ENST00000381506.3_Silent_p.S80S|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	304						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTTTAGCTGCTGAAACATAAG	0.388																																						uc003zjm.1																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(910-912)tcA>tcG		Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.							108	99	102					9																	5812998		2203	4300	6503	SO:0001819	synonymous_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5812998T>C	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.912A>G	9.37:g.5812998T>C			Somatic				ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Silent_p.S304S	p.S304S	NM_024896	NP_079172	WXS	Illumina GAIIx	Phase_I	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	4	966	-		Acute lymphoblastic leukemia(23;0.158)	304					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	c.912A>G	CCDS34983.1																																																																																				0.388	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		37	51	0	0	0	1	0	37	51					C	5812998	T	C	5812998	2	2	172	1	0	0	0	0	0	0	0	1	5236	1567	55	3		3	ERMP1	9	5812998	Silent	SNP	T	TCGA-EL-A3D4-01A-11D-A19J-08		5812998	135400433	3	3000											
OR1N1	138883	broad.mit.edu	37	9	125288964	125288964	+	Silent	SNP	G	G	A			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr9:125288964G>A	ENST00000304880.2	-	1	608	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	203						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)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGATGAGTACGGTGCCTCCCA	0.507																																						uc004bmn.1																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(607-609)acC>acT		Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.							85	76	79					9																	125288964		2203	4300	6503	SO:0001819	synonymous_variant	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288964G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.609C>T	9.37:g.125288964G>A			Somatic					p.T203T	NM_012363	NP_036495	WXS	Illumina GAIIx	Phase_I	Q8NGS0	OR1N1_HUMAN			0	609	-			203					A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	ENST00000304880.2	37	c.609C>T	CCDS6844.1																																																																																				0.507	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			7	41	0	0	0	1	0	7	41					A	125288964	G	A	125288964	2	1	172	1	0	0	0	0	0	0	0	1	10969	1103	39	1		1	OR1N1	9	125288964	Silent	SNP	G	TCGA-EL-A3D4-01A-11D-A19J-08	119475966	125288964	15924467	4	3001											
SLC25A45	283130	broad.mit.edu	37	11	65144052	65144052	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D4-01A-11D-A19J-08	TCGA-EL-A3D4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7162382d-c791-45d4-9679-95ec9989906f	02eb2729-233e-41ad-a43b-274267b89d3e	g.chr11:65144052C>T	ENST00000527174.1	-	6	748	c.693G>A	c.(691-693)atG>atA	p.M231I	SLC25A45_ENST00000417511.2_Missense_Mutation_p.M189I|SLC25A45_ENST00000398802.1_Missense_Mutation_p.M231I|SLC25A45_ENST00000377152.2_Missense_Mutation_p.M127I|SLC25A45_ENST00000360662.3_Missense_Mutation_p.M207I|SLC25A45_ENST00000526432.1_Missense_Mutation_p.M169I|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000294187.6_Missense_Mutation_p.M189I|SLC25A45_ENST00000534028.1_Missense_Mutation_p.M207I			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	231					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TCAGTCCATCCATCTGCATCC	0.617																																						uc001odr.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(691-693)atG>atA		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.							98	103	102					11																	65144052		2163	4260	6423	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144052C>T	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.693G>A	11.37:g.65144052C>T	ENSP00000435489:p.Met231Ile		Somatic				SLC25A45_uc009yqi.1_Missense_Mutation_p.M169I|SLC25A45_uc001odq.1_Missense_Mutation_p.M207I|SLC25A45_uc001ods.1_Missense_Mutation_p.M189I|SLC25A45_uc001odt.1_Missense_Mutation_p.M189I	p.M231I	NM_182556	NP_001070709	WXS	Illumina GAIIx	Phase_I	Q8N413	S2545_HUMAN			6	897	-			231					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.693G>A	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191043	0.78902	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.58	4.58	0.56647	Mitochondrial carrier domain (2);	.	.	.	.	T	0.78400	0.4277	N	0.16478	0.41	0.45690	D	0.998603	D;P;P	0.69078	0.997;0.767;0.885	D;P;P	0.79108	0.992;0.561;0.688	T	0.77101	-0.2712	9	0.31617	T	0.26	5.0032	15.256	0.73585	0.0:1.0:0.0:0.0	.	169;207;231	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	I	231;207;231;207;127;189;189;169	ENSP00000435489:M231I;ENSP00000431769:M207I;ENSP00000381782:M231I;ENSP00000353879:M207I;ENSP00000366357:M127I;ENSP00000294187:M189I;ENSP00000407530:M189I;ENSP00000435547:M169I	ENSP00000294187:M189I	M	-	3	0	SLC25A45	64900628	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	3.347000	0.52200	2.550000	0.86006	0.561000	0.74099	ATG		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		33	67	0	0	0	1	0	33	67					T	65144052	C	T	65144052	3	4	172	1	0	0	0	0	1	0	0	0	14510	594	21	2	177	2	SLC25A45	11	65144052	Missense_Mutation	SNP	C	TCGA-EL-A3D4-01A-11D-A19J-08		65144052	69862464	5	3002											
ABCB11	8647	broad.mit.edu	37	2	169850358	169850358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr2:169850358G>A	ENST00000263817.6	-	8	770	c.646C>T	c.(646-648)Caa>Taa	p.Q216*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	216	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|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)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGGGCCATTTGGTCAGCTATG	0.383																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(646-648)Caa>Taa		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						50	48	49					2																	169850358		1882	4098	5980	SO:0001587	stop_gained	8647				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169850358G>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.646C>T	2.37:g.169850358G>A	ENSP00000263817:p.Gln216*		Somatic					p.Q216*	NM_003742	NP_003733	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			7	772	-			216			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	ENST00000263817.6	37	c.646C>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	38	7.067928	0.98040	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0726	19.7593	0.96308	0.0:0.0:1.0:0.0	.	.	.	.	X	216	.	ENSP00000263817:Q216X	Q	-	1	0	ABCB11	169558604	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.830000	0.86741	2.675000	0.91044	0.650000	0.86243	CAA		0.383	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		8	16	0	0	0	1	0	8	16					A	169850358	G	A	169850358	4	1	173	1	0	0	0	0	0	1	0	0	42	1357	47	2	3403	2	ABCB11	2	169850358	Nonsense_Mutation	SNP	G	TCGA-EL-A3D5-01A-22D-A202-08		169850358	73349015	1	3003											
ORC2L	4999	broad.mit.edu	37	2	201822123	201822123	+	Splice_Site	SNP	C	C	G			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr2:201822123C>G	ENST00000234296.2	-	4	488		c.e4+1		ORC2_ENST00000467605.1_Splice_Site	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CCCTCAAATACCTTGAACATC	0.358																																						uc002uwr.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.e4+1		Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.							147	138	141					2																	201822123		2203	4300	6503	SO:0001630	splice_region_variant	4999				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|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201822123C>G		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.238+1G>C	2.37:g.201822123C>G			Somatic					p.E80_splice	NM_006190	NP_006181	WXS	Illumina GAIIx	Phase_I	Q13416	ORC2_HUMAN			4	509	-			80					Q13204|Q53TX5	Splice_Site	SNP	ENST00000234296.2	37	c.238_splice	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531611	0.64972	.	.	ENSG00000115942	ENST00000234296;ENST00000410039	.	.	.	5.7	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5725	0.45209	0.0:0.9113:0.0:0.0887	.	.	.	.	.	-1	.	.	.	-	.	.	ORC2	201530368	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	4.631000	0.61304	1.421000	0.47157	0.655000	0.94253	.		0.358	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190	Intron	36	93	0	0	0	1	0	36	93					G	201822123	C	G	201822123	5	3	173	1	0	0	0	0	0	0	1	0	11262	521	18	4	1554	4	ORC2L	2	201822123	Splice_Site	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08	31971765	201822123	41377250	2	3004											
SEMA3B	7869	broad.mit.edu	37	3	50311400	50311400	+	RNA	SNP	C	C	G			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr3:50311400C>G	ENST00000418948.1	+	0	1283							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGCGCCGGGCCTTCTTGGGA	0.667											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cyu.3																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6						c.(1045-1047)gCc>gGc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.							44	46	45					3																	50311400		2009	4183	6192			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311400C>G	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311400C>G			Somatic	OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	SEMA3B_uc003cyt.3_Missense_Mutation_p.A348G|SEMA3B_uc003cyv.3_Missense_Mutation_p.A237G|SEMA3B_uc003cyw.3_Missense_Mutation_p.A73G|SEMA3B_uc010hli.3_Missense_Mutation_p.A242G|SEMA3B_uc003cyx.3_Missense_Mutation_p.A236G|SEMA3B_uc003cyy.3_Missense_Mutation_p.A7G|SEMA3B_uc011bdo.2_Missense_Mutation_p.A7G	p.A349G	NM_004636	NP_004627	WXS	Illumina GAIIx	Phase_I	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	11	1288	+			350			Sema.		Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Missense_Mutation	SNP	ENST00000418948.1	37	c.1046C>G		.	.	.	.	.	.	.	.	.	.	C	12.51	1.959140	0.34565	.	.	ENSG00000012171	ENST00000316347;ENST00000414456	.	.	.	4.59	3.72	0.42706	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	.	.	.	.	.	.	P;D;P;B	0.58620	0.849;0.983;0.849;0.45	P;D;P;P	0.65773	0.542;0.938;0.542;0.528	T	0.80204	-0.1479	7	0.72032	D	0.01	.	10.2784	0.43523	0.0:0.903:0.0:0.097	.	349;99;349;350	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	G	349	.	ENSP00000446262:A349G	A	+	2	0	SEMA3B	50286404	0.564000	0.26602	0.992000	0.48379	0.985000	0.73830	1.152000	0.31663	1.167000	0.42706	0.563000	0.77884	GCC		0.667	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		19	43	0	0	0	1	0	19	43					G	50311400	C	G	50311400	1	3	173	0	1	0	0	0	0	0	0	0	14025	739	26	4		4	SEMA3B	3	50311400	RNA	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		50311400	147711030	3	3005											
NPY1R	4886	broad.mit.edu	37	4	164247095	164247095	+	Silent	SNP	C	C	T			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr4:164247095C>T	ENST00000296533.2	-	2	1143	c.612G>A	c.(610-612)tcG>tcA	p.S204S	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGAGAGTCCGATGGAAATT	0.383																																						uc003iqm.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(610-612)tcG>tcA		Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.							85	74	78					4																	164247095		2203	4300	6503	SO:0001819	synonymous_variant	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247095C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.612G>A	4.37:g.164247095C>T			Somatic				NPY1R_uc021xtv.1_Silent_p.S204S|NPY1R_uc011cjj.2_Intron	p.S204S	NM_000909	NP_000900	WXS	Illumina GAIIx	Phase_I	P25929	NPY1R_HUMAN			1	1077	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	204					B2R6H5	Silent	SNP	ENST00000296533.2	37	c.612G>A	CCDS34089.1																																																																																				0.383	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			18	36	0	0	0	1	0	18	36					T	164247095	C	T	164247095	2	4	173	1	0	0	0	0	0	0	0	1	10608	639	23	1		1	NPY1R	4	164247095	Silent	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		164247095	26907181	4	3006											
PCDHB6	56130	broad.mit.edu	37	5	140531380	140531380	+	Silent	SNP	C	C	T	rs368223094		TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr5:140531380C>T	ENST00000231136.1	+	1	1542	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	PCDHB6_ENST00000543635.1_Silent_p.L378L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTGCCCTCAGGTCGCTGG	0.687																																						uc003lir.3																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1540-1542)ctC>ctT		Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.							80	84	83					5																	140531380		2203	4300	6503	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531380C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1542C>T	5.37:g.140531380C>T			Somatic					p.L514L	NM_018939	NP_061762	WXS	Illumina GAIIx	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1542	+			514			Cadherin 5.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1542C>T	CCDS4248.1																																																																																				0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	239	0	0	0	1	0	12	239					T	140531380	C	T	140531380	2	4	173	1	0	0	0	0	0	0	0	1	11546	813	29	2		2	PCDHB6	5	140531380	Silent	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		140531380	40383880	5	3007											
HOXC11	3227	broad.mit.edu	37	12	54367562	54367562	+	Silent	SNP	G	G	T			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:54367562G>T	ENST00000546378.1	+	1	653	c.537G>T	c.(535-537)ggG>ggT	p.G179G	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.G179G|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	179					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			large_intestine(1)|ovary(1)	2						AGGCCAAGGGGGAGCCCGAGG	0.716			T	NUP98	AML																																	uc001sem.3				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(535-537)ggG>ggT		Homo sapiens homeobox C11 (HOXC11), mRNA.							10	12	11					12																	54367562		2144	4171	6315	SO:0001819	synonymous_variant	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367562G>T		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.537G>T	12.37:g.54367562G>T			Somatic					p.G179G	NM_014212	NP_055027	WXS	Illumina GAIIx	Phase_I	O43248	HXC11_HUMAN			0	653	+			179					A8K7D1|Q96DH2	Silent	SNP	ENST00000546378.1	37	c.537G>T	CCDS8867.1																																																																																				0.716	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			10	13	0	0	0	1	0	10	13					T	54367562	G	T	54367562	2	4	173	1	0	0	0	0	0	0	0	1	7310	1219	43	4		4	HOXC11	12	54367562	Silent	SNP	G	TCGA-EL-A3D5-01A-22D-A202-08		54367562	79484333	6	3008											
NAB2	4665	broad.mit.edu	37	12	57488406	57488406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:57488406delG	ENST00000300131.3	+	7	1858	c.1480delG	c.(1480-1482)gggfs	p.G494fs	NAB2_ENST00000342556.6_Frame_Shift_Del_p.G430fs|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	494					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTCGAGGAAGGGCTGCTGGA	0.627																																						uc001smz.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1480-1482)gggfs		Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.																																				SO:0001589	frameshift_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57488406delG	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1480delG	12.37:g.57488406delG	ENSP00000300131:p.Gly494fs		Somatic					p.G494fs	NM_005967	NP_005958	WXS	Illumina GAIIx	Phase_I	Q15742	NAB2_HUMAN			6	1858	+			494					B2RAK3|O76006|Q14797	Frame_Shift_Del	DEL	ENST00000300131.3	37	c.1480delG	CCDS8930.1																																																																																				0.627	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		2	4						2	4	---	---	---	---	-	57488406	G	-	57488406	7	5	173	1	0	1	0	1	0	0	0	0	10132	1000	35	0	1506	0	NAB2	12	57488406	Frame_Shift_Del	DEL	G	TCGA-EL-A3D5-01A-22D-A202-08	3120844	57488406	76363489	7	3009											
AMDHD1	144193	broad.mit.edu	37	12	96359525	96359525	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:96359525delG	ENST00000266736.2	+	7	1106	c.1000delG	c.(1000-1002)gatfs	p.D334fs		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	334					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCTGGGAAGTGATTTCAACCC	0.353																																						uc001tel.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(1000-1002)gatfs		Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.							148	131	136					12																	96359525		2203	4300	6503	SO:0001589	frameshift_variant	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96359525delG	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.1000delG	12.37:g.96359525delG	ENSP00000266736:p.Asp334fs		Somatic				AMDHD1_uc009zth.2_Frame_Shift_Del_p.D225fs	p.D334fs	NM_152435	NP_689648	WXS	Illumina GAIIx	Phase_I	Q96NU7	HUTI_HUMAN			6	1106	+			334					A8K463|Q68CI8	Frame_Shift_Del	DEL	ENST00000266736.2	37	c.1000delG	CCDS9057.1																																																																																				0.353	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		34	77						34	77	---	---	---	---	-	96359525	G	-	96359525	7	5	173	1	0	1	0	1	0	0	0	0	567	1290	45	0	1026	0	AMDHD1	12	96359525	Frame_Shift_Del	DEL	G	TCGA-EL-A3D5-01A-22D-A202-08	38871119	96359525	37492370	8	3010											
DICER1	23405	broad.mit.edu	37	14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr14:95557629T>C	ENST00000526495.1	-	27	5729	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_ENST00000527414.1_Missense_Mutation_p.E1813G|DICER1_ENST00000393063.1_Missense_Mutation_p.E1813G|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000343455.3_Missense_Mutation_p.E1813G|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000556045.1_Missense_Mutation_p.E711G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1813	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		E -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> K (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|E -> Q (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.E1813G(1)|p.E1813A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		2	Substitution - Missense(2)	p.E1813G(2)|p.E1813A(2)	endometrium(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5437-5439)gAg>gGg		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							225	231	229					14																	95557629		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557629T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5438A>G	14.37:g.95557629T>C	ENSP00000437256:p.Glu1813Gly		Somatic				DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	p.E1813G	NM_030621	NP_803187	WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5650	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1813			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5438A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916173	0.92249	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.6	5.6	0.85130	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98304	1.0520	10	0.87932	D	0	-26.0632	15.7947	0.78401	0.0:0.0:0.0:1.0	.	711;1813	B3KRG4;Q9UPY3	.;DICER_HUMAN	G	1813;1813;1813;1813;711	ENSP00000343745:E1813G;ENSP00000437256:E1813G;ENSP00000376783:E1813G;ENSP00000435681:E1813G;ENSP00000451041:E711G	ENSP00000343745:E1813G	E	-	2	0	DICER1	94627382	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.521000	0.81832	2.106000	0.64143	0.533000	0.62120	GAG		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			117	223	0	0	0	1	0	117	223					C	95557629	T	C	95557629	3	2	173	1	0	0	0	0	1	0	0	0	4521	1551	54	3	342	3	DICER1	14	95557629	Missense_Mutation	SNP	T	TCGA-EL-A3D5-01A-22D-A202-08		95557629	11791911	9	3011											
RPAP1	26015	broad.mit.edu	37	15	41819130	41819130	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr15:41819130A>C	ENST00000304330.4	-	14	1999	c.1883T>G	c.(1882-1884)cTg>cGg	p.L628R	RPAP1_ENST00000561603.1_Missense_Mutation_p.L628R|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	628						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCTGAGGCCAGGACACGAAG	0.572																																						uc001zod.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(1882-1884)cTg>cGg		Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.							127	127	127					15																	41819130		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819130A>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1883T>G	15.37:g.41819130A>C	ENSP00000306123:p.Leu628Arg		Somatic					p.L628R	NM_015540	NP_056355	WXS	Illumina GAIIx	Phase_I	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	13	2007	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	628					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1883T>G	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246854	0.80024	.	.	ENSG00000103932	ENST00000304330	T	0.72051	-0.62	5.1	5.1	0.69264	.	0.079503	0.51477	D	0.000085	T	0.81772	0.4893	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.83997	0.0341	10	0.87932	D	0	-6.7238	14.8461	0.70261	1.0:0.0:0.0:0.0	.	628	Q9BWH6	RPAP1_HUMAN	R	628	ENSP00000306123:L628R	ENSP00000306123:L628R	L	-	2	0	RPAP1	39606422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.868000	0.92320	2.047000	0.60756	0.460000	0.39030	CTG		0.572	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		7	258	0	0	0	1	0	7	258					C	41819130	A	C	41819130	3	2	173	1	0	0	0	0	1	0	0	0	13541	188	7	5	2346	5	RPAP1	15	41819130	Missense_Mutation	SNP	A	TCGA-EL-A3D5-01A-22D-A202-08		41819130	60712262	10	3012											
SF3B3	23450	broad.mit.edu	37	16	70599364	70599364	+	Silent	SNP	A	A	T			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr16:70599364A>T	ENST00000302516.5	+	20	2974	c.2763A>T	c.(2761-2763)gcA>gcT	p.A921A		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	921					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCTGTGGCAGGGGGCTTCG	0.488																																						uc002ezf.3																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2761-2763)gcA>gcT		Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.							105	112	110					16																	70599364		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding	g.chr16:70599364A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2763A>T	16.37:g.70599364A>T			Somatic					p.A921A	NM_012426	NP_036558	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			19	2974	+		Ovarian(137;0.0694)	921					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.2763A>T	CCDS10894.1																																																																																				0.488	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	139	0	0	0	1	0	6	139					T	70599364	A	T	70599364	2	4	173	1	0	0	0	0	0	0	0	1	14152	175	7	5		5	SF3B3	16	70599364	Silent	SNP	A	TCGA-EL-A3D5-01A-22D-A202-08		70599364	19755389	11	3013											
TP53	7157	broad.mit.edu	37	17	7573998	7573999	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr17:7573998_7573999delCT	ENST00000269305.4	-	10	1217_1218	c.1028_1029delAG	c.(1027-1029)gagfs	p.E343fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.E343fs|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	343	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L344fs*23(2)|p.I332fs*5(1)|p.R342_N345delRELN(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTCATTCAGCTCTCGGAACAT	0.569		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		13	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)|Deletion - In frame(1)	p.R342*(62)|p.R342fs*3(9)|p.0?(8)|p.E343*(6)|p.R342P(3)|p.L344fs*23(2)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.E343fs*3(1)|p.I332fs*5(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1027-1029)gagfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573998_7573999delCT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1028_1029delAG	17.37:g.7574000_7574001delCT	ENSP00000269305:p.Glu343fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.E211fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.E343fs|DL476313_uc021tpe.1_5'Flank	p.E343fs	NM_001126112	NP_001119587	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1222_1223	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	343		E -> G (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1028_1029delAG	CCDS11118.1																																																																																				0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	15						26	15	---	---	---	---	-	7573999	CT	-	7573998	7	5	173	1	0	1	0	1	0	0	0	0	16378	796	28	0	160	0	TP53	17	7573998	Frame_Shift_Del	DEL	CT	TCGA-EL-A3D5-01A-22D-A202-08		7573998	73621212	12	3014											
NCAN	1463	broad.mit.edu	37	19	19359691	19359691	+	Splice_Site	SNP	C	C	T	rs148844959	byFrequency	TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr19:19359691C>T	ENST00000252575.6	+	14	3919	c.3820C>T	c.(3820-3822)Ccc>Tcc	p.P1274S	NCAN_ENST00000538881.1_Splice_Site_p.P725S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1274					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)	CTGCACCAAACGTAAGTAGCT	0.463																																						uc002nlz.3																			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.e14+1		Homo sapiens neurocan (NCAN), mRNA.		C	SER/PRO	3,4403	6.2+/-15.9	0,3,2200	108	93	98		3820	3.5	1.0	19	dbSNP_134	98	0,8600		0,0,4300	yes	missense-near-splice	NCAN	NM_004386.2	74	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	1274/1322	19359691	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19359691C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3820+1C>T	19.37:g.19359691C>T			Somatic				NCAN_uc002nma.3_Splice_Site_p.N29_splice	p.P1274_splice	NM_004386	NP_004377	WXS	Illumina GAIIx	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		14	3919	+			1274					Q9UPK6	Splice_Site	SNP	ENST00000252575.6	37	c.3820_splice	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313469	0.40996	6.81E-4	0.0	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85629	-1.86;-2.01	4.54	3.51	0.40186	.	0.210382	0.24156	N	0.041030	T	0.68906	0.3052	N	0.11560	0.145	0.32617	N	0.523886	B	0.31503	0.326	B	0.22601	0.04	T	0.74691	-0.3580	10	0.72032	D	0.01	.	10.2033	0.43099	0.0:0.9026:0.0:0.0974	.	1274	O14594	NCAN_HUMAN	S	1288;1274;725	ENSP00000252575:P1274S;ENSP00000442202:P725S	ENSP00000252575:P1274S	P	+	1	0	NCAN	19220691	0.946000	0.32159	1.000000	0.80357	0.947000	0.59692	1.872000	0.39549	1.147000	0.42369	0.536000	0.68110	CCC		0.463	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	Missense_Mutation	23	27	0	0	0	1	0	23	27					T	19359691	C	T	19359691	5	4	173	1	0	0	0	0	0	0	1	0	10204	550	19	1	3870	1	NCAN	19	19359691	Splice_Site	SNP	C	TCGA-EL-A3D5-01A-22D-A202-08		19359691	39769292	13	3015											
TSPYL2	64061	broad.mit.edu	37	X	53114505	53114505	+	Splice_Site	SNP	T	T	A			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chrX:53114505T>A	ENST00000375442.4	+	5	1370		c.e5+2			NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAAGAAACGGTAATGGGAGTT	0.443																																						uc004drw.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.e5+2		Homo sapiens TSPY-like 2 (TSPYL2), mRNA.							89	87	88					X																	53114505		2203	4300	6503	SO:0001630	splice_region_variant	64061				cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53114505T>A	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1238+2T>A	X.37:g.53114505T>A			Somatic				TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_5'UTR	p.R413_splice	NM_022117	NP_071400	WXS	Illumina GAIIx	Phase_I	Q9H2G4	TSYL2_HUMAN			5	1377	+			413					O94799|Q96DG7|Q9BZW6	Splice_Site	SNP	ENST00000375442.4	37	c.1238_splice	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	T	5.917	0.353254	0.11182	.	.	ENSG00000184205	ENST00000375442	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7437	0.28856	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSPYL2	53131230	1.000000	0.71417	0.492000	0.27490	0.265000	0.26407	2.188000	0.42612	1.641000	0.50575	0.417000	0.27973	.		0.443	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117	Intron	22	43	0	0	0	1	0	22	43					A	53114505	T	A	53114505	5	1	173	1	0	0	0	0	0	0	1	0	16657	1652	57	5	1258	5	TSPYL2	23	53114505	Splice_Site	SNP	T	TCGA-EL-A3D5-01A-22D-A202-08		53114505	102156055	14	3016											
SLC4A7	9497	broad.mit.edu	37	3	27444776	27444776	+	Silent	SNP	C	C	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:27444776C>G	ENST00000295736.5	-	15	2218	c.2148G>C	c.(2146-2148)gtG>gtC	p.V716V	SLC4A7_ENST00000455077.1_Silent_p.V597V|SLC4A7_ENST00000435667.2_Silent_p.V601V|SLC4A7_ENST00000440156.1_Silent_p.V712V|SLC4A7_ENST00000388777.4_Silent_p.V266V|SLC4A7_ENST00000428386.1_Silent_p.V592V|SLC4A7_ENST00000437179.1_Silent_p.V597V|SLC4A7_ENST00000445684.1_Silent_p.V712V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Silent_p.V708V|SLC4A7_ENST00000454389.1_Silent_p.V725V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	716					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TAATATAACACACAAGGCTGC	0.378																																						uc011aww.2																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2173-2175)gtG>gtC		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.							105	105	105					3																	27444776		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27444776C>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2148G>C	3.37:g.27444776C>G			Somatic				SLC4A7_uc011awx.2_Silent_p.V712V|SLC4A7_uc021wun.1_Silent_p.V601V|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Silent_p.V708V|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Silent_p.V597V|SLC4A7_uc011axb.2_Silent_p.V712V|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Silent_p.V597V|SLC4A7_uc010hfl.3_Silent_p.V266V|SLC4A7_uc003cdv.3_Silent_p.V716V|SLC4A7_uc003cdw.3_Silent_p.V592V	p.V725V	NM_003615	NP_003606	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			14	2396	-			716					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.2175G>C	CCDS33721.1																																																																																				0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		6	145	0	0	0	1	0	6	145					G	27444776	C	G	27444776	2	3	174	1	0	0	0	0	0	0	0	1	14658	465	17	4		4	SLC4A7	3	27444776	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		27444776	170577654	1	3017											
NAALADL2	254827	broad.mit.edu	37	3	175455163	175455163	+	Silent	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr3:175455163T>C	ENST00000454872.1	+	12	2094	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L	snoU13_ENST00000606657.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	656						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATATAGCTTTAGAAGTTCA	0.313																																						uc003fit.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(1966-1968)Tta>Cta		Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.							104	97	99					3																	175455163		1819	4074	5893	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175455163T>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1966T>C	3.37:g.175455163T>C			Somatic					p.L656L	NM_207015	NP_996898	WXS	Illumina GAIIx	Phase_I	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	11	2053	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	656					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.1966T>C	CCDS46960.1																																																																																				0.313	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		3	64	0	0	0	1	0	3	64					C	175455163	T	C	175455163	2	2	174	1	0	0	0	0	0	0	0	1	10130	1838	64	3		3	NAALADL2	3	175455163	Silent	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	148010387	175455163	22567267	2	3018											
GABRA6	2559	broad.mit.edu	37	5	161128522	161128522	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr5:161128522C>T	ENST00000274545.5	+	9	1538	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	GABRA6_ENST00000523217.1_Missense_Mutation_p.H359Y			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	369					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H369Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCCAAATATCATCTGAAGAA	0.378										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)	p.H369Y(2)	skin(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1105-1107)Cat>Tat		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						104	109	107					5																	161128522		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128522C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1105C>T	5.37:g.161128522C>T	ENSP00000274545:p.His369Tyr	TCGA Ovarian(5;0.080)	Somatic				GABRA6_uc003lyv.2_Missense_Mutation_p.H140Y	p.H369Y	NM_000811	NP_000802	WXS	Illumina GAIIx	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1443	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	369					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1105C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	5.469	0.271617	0.10349	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.862	0.10673	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.571169	0.17860	N	0.159575	T	0.59128	0.2171	N	0.04959	-0.14	0.24253	N	0.99532	B	0.02656	0.0	B	0.12837	0.008	T	0.46938	-0.9155	10	0.30854	T	0.27	.	4.9722	0.14121	0.4759:0.2697:0.0:0.2544	.	369	Q16445	GBRA6_HUMAN	Y	369;359	ENSP00000274545:H369Y;ENSP00000430527:H359Y	ENSP00000274545:H369Y	H	+	1	0	GABRA6	161061100	0.710000	0.27896	0.635000	0.29338	0.943000	0.58893	1.108000	0.31123	0.013000	0.14918	0.655000	0.94253	CAT		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			8	155	0	0	0	1	0	8	155					T	161128522	C	T	161128522	3	4	174	1	0	0	0	0	1	0	0	0	6165	826	29	2	1139	2	GABRA6	5	161128522	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		161128522	19786738	3	3019											
BAI3	577	broad.mit.edu	37	6	69758224	69758224	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr6:69758224A>T	ENST00000370598.1	+	14	3076	c.2255A>T	c.(2254-2256)aAa>aTa	p.K752I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	752					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTCATCAAAAGGTAAATAT	0.328																																						uc010kak.3																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2254-2256)aAa>aTa		Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.							56	59	58					6																	69758224		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758224A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2255A>T	6.37:g.69758224A>T	ENSP00000359630:p.Lys752Ile		Somatic				BAI3_uc003pev.4_Missense_Mutation_p.K752I	p.K752I	NM_001704	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			12	2531	+		all_lung(197;0.212)	752					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2255A>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221520	0.39300	.	.	ENSG00000135298	ENST00000370598	T	0.22134	1.97	5.08	3.75	0.43078	Domain of unknown function DUF3497 (1);	0.307454	0.27482	N	0.019179	T	0.07052	0.0179	N	0.14661	0.345	0.80722	D	1	B	0.30104	0.268	B	0.38378	0.272	T	0.08932	-1.0698	10	0.52906	T	0.07	.	7.9378	0.29939	0.8225:0.0:0.1775:0.0	.	752	O60242	BAI3_HUMAN	I	752	ENSP00000359630:K752I	ENSP00000359630:K752I	K	+	2	0	BAI3	69814945	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.376000	0.44292	2.056000	0.61249	0.529000	0.55759	AAA		0.328	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	47	0	0	0	1	0	5	47					T	69758224	A	T	69758224	3	4	174	1	0	0	0	0	1	0	0	0	1300	14	1	5	2301	5	BAI3	6	69758224	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08		69758224	101356843	4	3020											
STK31	56164	broad.mit.edu	37	7	23871854	23871854	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:23871854G>C	ENST00000355870.3	+	24	3048	c.2929G>C	c.(2929-2931)Gag>Cag	p.E977Q	STK31_ENST00000354639.3_Missense_Mutation_p.E954Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E954Q|STK31_ENST00000428484.1_Missense_Mutation_p.E954Q	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	977	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GATGCCAAAGGAGCAATCAGT	0.358																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2929-2931)Gag>Cag		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							106	106	106					7																	23871854		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871854G>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2929G>C	7.37:g.23871854G>C	ENSP00000348132:p.Glu977Gln		Somatic				STK31_uc003swt.4_Missense_Mutation_p.E954Q|STK31_uc011jze.2_Missense_Mutation_p.E954Q|STK31_uc010kuq.3_Missense_Mutation_p.E954Q|STK31_uc003swv.1_Missense_Mutation_p.E143Q	p.E977Q	NM_031414	NP_116562	WXS	Illumina GAIIx	Phase_I	Q9BXU1	STK31_HUMAN			23	2996	+			977			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2929G>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906587	0.33628	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.70399	-0.48;1.32;-0.47;-0.47	4.98	4.08	0.47627	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.821157	0.10896	N	0.622179	T	0.44117	0.1278	N	0.08118	0	0.09310	N	0.999992	P;P;P	0.39157	0.662;0.608;0.476	B;B;B	0.32677	0.15;0.063;0.063	T	0.13045	-1.0524	10	0.15066	T	0.55	9.0E-4	8.3385	0.32230	0.1686:0.0:0.8314:0.0	.	954;977;977	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	Q	977;954;954;954	ENSP00000348132:E977Q;ENSP00000411852:E954Q;ENSP00000346660:E954Q;ENSP00000406146:E954Q	ENSP00000346660:E954Q	E	+	1	0	STK31	23838379	0.980000	0.34600	0.833000	0.33012	0.796000	0.44982	2.229000	0.42990	2.454000	0.82982	0.491000	0.48974	GAG		0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		3	95	0	0	0	1	0	3	95					C	23871854	G	C	23871854	3	2	174	1	0	0	0	0	1	0	0	0	15295	1175	41	4	3023	4	STK31	7	23871854	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		23871854	135266809	5	3021											
ZAN	7455	broad.mit.edu	37	7	100352918	100352918	+	RNA	SNP	G	G	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:100352918G>T	ENST00000348028.3	+	0	3359				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_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)			CCCAGGCCTAGCTGTGGGCCC	0.562																																						uc003uwj.3																			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						c.(3193-3195)aGc>aTc		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							129	135	133					7																	100352918		1937	4130	6067			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352918G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352918G>T			Somatic				ZAN_uc003uwk.3_Missense_Mutation_p.S1065I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	p.S1065I	NM_003386	NP_003377	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	3359	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1065			TIL 1.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.3194G>T		.	.	.	.	.	.	.	.	.	.	g	13.67	2.306761	0.40795	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90844	-2.74;-2.74;-2.74	5.13	-5.65	0.02459	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	1.292130	0.05245	N	0.512894	D	0.88377	0.6420	L	0.41824	1.3	0.33574	D	0.599017	P;P	0.51653	0.935;0.947	P;P	0.51582	0.545;0.674	T	0.83267	-0.0045	10	0.66056	D	0.02	.	8.1388	0.31071	0.3742:0.4635:0.1623:0.0	.	1065;1065	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	1065	ENSP00000445943:S1065I;ENSP00000445091:S1065I;ENSP00000444427:S1065I	ENSP00000423579:S1065I	S	+	2	0	ZAN	100190854	0.000000	0.05858	0.023000	0.16930	0.235000	0.25334	-4.515000	0.00222	-1.086000	0.03084	0.651000	0.88453	AGC		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		73	186	0	0	0	1	0	73	186					T	100352918	G	T	100352918	1	4	174	0	1	0	0	0	0	0	0	0	17510	971	34	4		4	ZAN	7	100352918	RNA	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	76481064	100352918	58785745	6	3022											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	87	0	0	0	1	0	32	87					T	140453136	A	T	140453136	3	4	174	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	40100218	140453136	18685527	7	3023											
FAM110B	90362	broad.mit.edu	37	8	59058923	59058923	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:59058923C>T	ENST00000361488.3	+	5	1014	c.134C>T	c.(133-135)cCc>cTc	p.P45L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	45						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGCCCAACCCCAAGAGGCTC	0.667																																						uc003xtj.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(133-135)cCc>cTc		Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.							34	37	36					8																	59058923		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59058923C>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.134C>T	8.37:g.59058923C>T	ENSP00000355204:p.Pro45Leu		Somatic				FAM110B_uc022auu.1_Missense_Mutation_p.P45L	p.P45L	NM_147189	NP_671722	WXS	Illumina GAIIx	Phase_I	Q8TC76	F110B_HUMAN			4	1014	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	45					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.134C>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750181	0.69533	.	.	ENSG00000169122	ENST00000361488	T	0.47869	0.83	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.61703	1.905	0.80722	D	1	P	0.50066	0.931	P	0.57204	0.815	T	0.61598	-0.7030	9	.	.	.	-19.1696	18.2903	0.90127	0.0:1.0:0.0:0.0	.	45	Q8TC76	F110B_HUMAN	L	45	ENSP00000355204:P45L	.	P	+	2	0	FAM110B	59221477	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.659000	0.61504	2.312000	0.78011	0.313000	0.20887	CCC		0.667	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		9	42	0	0	0	1	0	9	42					T	59058923	C	T	59058923	3	4	174	1	0	0	0	0	1	0	0	0	5397	623	22	2	136	2	FAM110B	8	59058923	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		59058923	87305099	8	3024											
CA13	377677	broad.mit.edu	37	8	86193478	86193478	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr8:86193478T>G	ENST00000321764.3	+	7	991	c.689T>G	c.(688-690)cTc>cGc	p.L230R		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	230					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TTTCGCAGTCTCCTGTGCACA	0.458																																						uc003ydg.2																			0				large_intestine(1)|lung(6)	7						c.(688-690)cTc>cGc		Homo sapiens carbonic anhydrase XIII (CA13), mRNA.							143	169	160					8																	86193478		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86193478T>G	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.689T>G	8.37:g.86193478T>G	ENSP00000318912:p.Leu230Arg		Somatic				CA13_uc003ydf.1_Intron	p.L230R	NM_198584	NP_940986	WXS	Illumina GAIIx	Phase_I	Q8N1Q1	CAH13_HUMAN			6	1031	+			230						Missense_Mutation	SNP	ENST00000321764.3	37	c.689T>G	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046088	0.55110	.	.	ENSG00000185015	ENST00000321764	T	0.68181	-0.31	5.32	5.32	0.75619	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.056894	0.64402	D	0.000001	D	0.86364	0.5915	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90154	0.4223	10	0.87932	D	0	-18.0628	14.5548	0.68094	0.0:0.0:0.0:1.0	.	230	Q8N1Q1	CAH13_HUMAN	R	230	ENSP00000318912:L230R	ENSP00000318912:L230R	L	+	2	0	CA13	86380730	1.000000	0.71417	0.690000	0.30148	0.181000	0.23173	6.123000	0.71614	2.139000	0.66308	0.459000	0.35465	CTC		0.458	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		30	244	0	0	0	1	0	30	244					G	86193478	T	G	86193478	3	3	174	1	0	0	0	0	1	0	0	0	2514	1551	54	5	715	5	CA13	8	86193478	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	27134555	86193478	60170544	9	3025											
IARS	3376	broad.mit.edu	37	9	95027811	95027811	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:95027811C>T	ENST00000375643.3	-	15	1722	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.E376K|IARS_ENST00000443024.2_Missense_Mutation_p.E486K	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	486					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TCTTCAAGTTCCGCCACTGAC	0.413																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1456-1458)Gaa>Aaa		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)						149	142	144					9																	95027811		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95027811C>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1456G>A	9.37:g.95027811C>T	ENSP00000364794:p.Glu486Lys		Somatic				IARS_uc004ars.1_Missense_Mutation_p.E331K|IARS_uc004aru.3_Missense_Mutation_p.E486K|IARS_uc010mqr.2_Missense_Mutation_p.E376K|IARS_uc010mqt.2_Intron	p.E486K	NM_013417	NP_038203	WXS	Illumina GAIIx	Phase_I	P41252	SYIC_HUMAN			14	1713	-			486					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1456G>A	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380695	0.95945	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.38401	1.14;1.14;1.14	5.23	5.23	0.72850	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.048735	0.85682	D	0.000000	T	0.62183	0.2407	M	0.85099	2.735	0.80722	D	1	D;P	0.55385	0.971;0.859	P;P	0.59357	0.856;0.681	T	0.66705	-0.5856	10	0.49607	T	0.09	-21.4256	18.4017	0.90519	0.0:1.0:0.0:0.0	.	486;331	P41252;Q6P0M4	SYIC_HUMAN;.	K	486;486;376;486	ENSP00000364794:E486K;ENSP00000406448:E486K;ENSP00000415020:E376K	ENSP00000364794:E486K	E	-	1	0	IARS	94067632	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.444000	0.80532	2.461000	0.83175	0.591000	0.81541	GAA		0.413	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		7	213	0	0	0	1	0	7	213					T	95027811	C	T	95027811	3	4	174	1	0	0	0	0	1	0	0	0	7473	864	30	2	2412	2	IARS	9	95027811	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		95027811	46185620	10	3026											
NCBP1	4686	broad.mit.edu	37	9	100409798	100409798	+	Silent	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:100409798C>T	ENST00000375147.3	+	7	892	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	212	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CTCATGTACCCATGTTACAGG	0.368																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(634-636)ccC>ccT		Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.							127	115	119					9																	100409798		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding	g.chr9:100409798C>T	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.636C>T	9.37:g.100409798C>T			Somatic					p.P212P	NM_002486	NP_002477	WXS	Illumina GAIIx	Phase_I	Q09161	NCBP1_HUMAN			6	1095	+		Acute lymphoblastic leukemia(62;0.158)	212			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.636C>T	CCDS6728.1																																																																																				0.368	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		3	77	0	0	0	1	0	3	77					T	100409798	C	T	100409798	2	4	174	1	0	0	0	0	0	0	0	1	10211	581	21	2		2	NCBP1	9	100409798	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	5381987	100409798	40803633	11	3027											
OR13F1	138805	broad.mit.edu	37	9	107267381	107267381	+	Missense_Mutation	SNP	G	G	A	rs142994537		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:107267381G>A	ENST00000334726.2	+	1	927	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGTATGCCGGACAAACCCC	0.428																																						uc011lvm.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(838-840)Gga>Aga		Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	72	71	71		838	4.3	0.2	9	dbSNP_134	71	0,8600		0,0,4300	yes	missense	OR13F1	NM_001004485.1	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	280/320	107267381	1,13005	2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267381G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.838G>A	9.37:g.107267381G>A	ENSP00000334452:p.Gly280Arg		Somatic					p.G280R	NM_001004485	NP_001004485	WXS	Illumina GAIIx	Phase_I	Q8NGS4	O13F1_HUMAN			0	838	+			280					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.838G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966815	0.34659	2.27E-4	0.0	ENSG00000186881	ENST00000334726	T	0.36878	1.23	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.449691	0.18713	N	0.133238	T	0.43389	0.1245	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.57960	0.83	T	0.29488	-1.0010	10	0.87932	D	0	.	15.0807	0.72113	0.0:0.0:1.0:0.0	.	280	Q8NGS4	O13F1_HUMAN	R	280	ENSP00000334452:G280R	ENSP00000334452:G280R	G	+	1	0	OR13F1	106307202	0.001000	0.12720	0.208000	0.23602	0.152000	0.21847	0.996000	0.29719	2.681000	0.91329	0.655000	0.94253	GGA		0.428	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			10	83	0	0	0	1	0	10	83					A	107267381	G	A	107267381	3	1	174	1	0	0	0	0	1	0	0	0	10941	1117	39	1	840	1	OR13F1	9	107267381	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	6857583	107267381	33946050	12	3028											
SVEP1	79987	broad.mit.edu	37	9	113208159	113208159	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr9:113208159T>C	ENST00000401783.2	-	26	4757	c.4421A>G	c.(4420-4422)gAt>gGt	p.D1474G	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1474G|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1451G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1474	Pentaxin.				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						GCTGCCGTTATCAACTGCATA	0.453																																						uc010mtz.3																			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.(4420-4422)gAt>gGt		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							173	166	169					9																	113208159		1963	4161	6124	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208159T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4421A>G	9.37:g.113208159T>C	ENSP00000384917:p.Asp1474Gly		Somatic				SVEP1_uc010mua.1_Missense_Mutation_p.D1474G	p.D1474G	NM_153366	NP_699197	WXS	Illumina GAIIx	Phase_I	Q4LDE5	SVEP1_HUMAN			25	4758	-			1474			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4421A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789199	0.49997	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.72394	0.16;0.16;-0.65	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.190460	0.56097	D	0.000038	T	0.60353	0.2262	N	0.17278	0.47	0.42889	D	0.994191	P;B	0.40578	0.722;0.324	B;B	0.42163	0.378;0.305	T	0.64508	-0.6391	10	0.44086	T	0.13	.	15.8924	0.79309	0.0:0.0:0.0:1.0	.	1474;1474	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	G	1474;1451;1474	ENSP00000384917:D1474G;ENSP00000363593:D1451G;ENSP00000304118:D1474G	ENSP00000304118:D1474G	D	-	2	0	SVEP1	112247980	1.000000	0.71417	0.806000	0.32338	0.059000	0.15707	7.591000	0.82666	2.219000	0.72066	0.533000	0.62120	GAT		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	141	0	0	0	1	0	6	141					C	113208159	T	C	113208159	3	2	174	1	0	0	0	0	1	0	0	0	15417	1435	50	3	6386	3	SVEP1	9	113208159	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	5940778	113208159	28005272	13	3029											
JMJD1C	221037	broad.mit.edu	37	10	64973913	64973913	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:64973913T>A	ENST00000399262.2	-	8	2232	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*	JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R453*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R490*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R453*|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	672					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTGCCAATCTTCTTTCACCA	0.388																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2014-2016)Aga>Tga		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							145	134	137					10																	64973913		1882	4117	5999	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973913T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2014A>T	10.37:g.64973913T>A	ENSP00000382204:p.Arg672*		Somatic				JMJD1C_uc001jml.3_Nonsense_Mutation_p.R453*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.R384*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.R490*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.R490*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Nonsense_Mutation_p.R384*	p.R672*	NM_032776	NP_116165	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			7	2314	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		672					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.2014A>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	45	11.916321	0.99617	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	6.11	2.15	0.27550	.	0.161513	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.5233	13.5488	0.61719	0.0:0.0:0.3527:0.6473	.	.	.	.	X	672;453;453;490	.	ENSP00000382195:R453X	R	-	1	2	JMJD1C	64643919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.908000	0.48750	1.095000	0.41419	0.533000	0.62120	AGA		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		21	95	0	0	0	1	0	21	95					A	64973913	T	A	64973913	4	1	174	1	0	0	0	0	0	1	0	0	7950	1617	56	5	5684	5	JMJD1C	10	64973913	Nonsense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08		64973913	70560834	14	3030											
GLRX3	10539	broad.mit.edu	37	10	131943568	131943568	+	Silent	SNP	A	A	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr10:131943568A>G	ENST00000368644.1	+	2	208	c.186A>G	c.(184-186)caA>caG	p.Q62Q	GLRX3_ENST00000331244.5_Silent_p.Q62Q	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	62	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AACTCCCTCAAGTTTCATTTG	0.428																																						uc001lkm.2																			0				endometrium(1)|large_intestine(5)|lung(7)	13						c.(184-186)caA>caG		Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 2, mRNA.							94	94	94					10																	131943568		2203	4300	6503	SO:0001819	synonymous_variant	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131943568A>G	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"glutaredoxin 4"	612754	"thioredoxin-like 2"	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.186A>G	10.37:g.131943568A>G			Somatic				GLRX3_uc001lkn.2_Silent_p.Q62Q|GLRX3_uc001lko.3_Non-coding_Transcript	p.Q62Q	NM_006541	NP_006532	WXS	Illumina GAIIx	Phase_I	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	1	232	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	62			Thioredoxin.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Silent	SNP	ENST00000368644.1	37	c.186A>G	CCDS7661.1																																																																																				0.428	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		3	57	0	0	0	1	0	3	57					G	131943568	A	G	131943568	2	3	174	1	0	0	0	0	0	0	0	1	6461	69	3	3		3	GLRX3	10	131943568	Silent	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	66969655	131943568	3591179	15	3031											
TSPAN32	10077	broad.mit.edu	37	11	2334910	2334910	+	Silent	SNP	C	C	T	rs147630481		TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:2334910C>T	ENST00000182290.4	+	5	518	c.381C>T	c.(379-381)taC>taT	p.Y127Y	TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Silent_p.Y127Y|TSPAN32_ENST00000451520.2_Silent_p.Y116Y	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	127					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGGACACCTACGACCTGGTAT	0.672																																						uc001lvy.1																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(379-381)taC>taT		Homo sapiens tetraspanin 32 (TSPAN32), mRNA.							82	51	62					11																	2334910		2201	4299	6500	SO:0001819	synonymous_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2334910C>T	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.381C>T	11.37:g.2334910C>T			Somatic				TSPAN32_uc001lvx.1_Silent_p.Y186Y|TSPAN32_uc009ydk.1_Silent_p.Y137Y|TSPAN32_uc010qxk.2_Silent_p.Y162Y|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.Y97Y|TSPAN32_uc001lwb.1_Silent_p.Y97Y|TSPAN32_uc001lwc.1_Silent_p.Y72Y|TSPAN32_uc001lwd.1_5'Flank	p.Y127Y	NM_139022	NP_620591	WXS	Illumina GAIIx	Phase_I	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	518	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	127					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.381C>T	CCDS7733.1																																																																																				0.672	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		8	14	0	0	0	1	0	8	14					T	2334910	C	T	2334910	2	4	174	1	0	0	0	0	0	0	0	1	16644	547	19	1		1	TSPAN32	11	2334910	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		2334910	132671606	16	3032											
AHNAK	79026	broad.mit.edu	37	11	62284755	62284755	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr11:62284755T>C	ENST00000378024.4	-	5	17408	c.17134A>G	c.(17134-17136)Atc>Gtc	p.I5712V	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5712					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCATTTTGATCTTGGACTTT	0.483																																						uc001ntl.3																			0		p.I5712T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17134-17136)Atc>Gtc		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							78	81	80					11																	62284755		2201	4299	6500	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62284755T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17134A>G	11.37:g.62284755T>C	ENSP00000367263:p.Ile5712Val		Somatic				AHNAK_uc001ntk.1_Intron	p.I5712V	NM_001620	NP_001611	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			4	17434	-		Melanoma(852;0.155)	5712					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.17134A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979556	0.34942	.	.	ENSG00000124942	ENST00000378024	T	0.01059	5.39	4.77	3.62	0.41486	.	.	.	.	.	T	0.03390	0.0098	L	0.46741	1.465	0.34604	D	0.716871	P	0.46784	0.884	P	0.62491	0.903	T	0.54180	-0.8332	9	0.28530	T	0.3	.	10.611	0.45421	0.1438:0.0:0.0:0.8562	.	5712	Q09666	AHNK_HUMAN	V	5712	ENSP00000367263:I5712V	ENSP00000367263:I5712V	I	-	1	0	AHNAK	62041331	0.086000	0.21541	0.988000	0.46212	0.876000	0.50452	0.372000	0.20467	0.661000	0.30985	0.448000	0.29417	ATC		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		3	149	0	0	0	1	0	3	149					C	62284755	T	C	62284755	3	2	174	1	0	0	0	0	1	0	0	0	414	1435	50	3	658	3	AHNAK	11	62284755	Missense_Mutation	SNP	T	TCGA-EL-A3D6-01A-12D-A202-08	59949845	62284755	72721761	17	3033											
COL4A1	1282	broad.mit.edu	37	13	110844602	110844602	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr13:110844602C>A	ENST00000375820.4	-	24	1616	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y	COL4A1_ENST00000543140.1_Missense_Mutation_p.D499Y	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	499	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)			AAACCTCTGTCGCCCTTGGCC	0.498																																						uc001vqw.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.(1495-1497)Gac>Tac		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							94	83	87					13																	110844602		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110844602C>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1495G>T	13.37:g.110844602C>A	ENSP00000364979:p.Asp499Tyr		Somatic					p.D499Y	NM_001845	NP_001836	WXS	Illumina GAIIx	Phase_I	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		23	1617	-	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)	499			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1495G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500954	0.64298	.	.	ENSG00000187498	ENST00000375820;ENST00000543140	D;D	0.93763	-3.23;-3.28	5.18	5.18	0.71444	.	0.245077	0.40469	N	0.001086	D	0.96393	0.8823	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96626	0.9463	10	0.62326	D	0.03	.	18.7268	0.91717	0.0:1.0:0.0:0.0	.	499	P02462	CO4A1_HUMAN	Y	499	ENSP00000364979:D499Y;ENSP00000443348:D499Y	ENSP00000364979:D499Y	D	-	1	0	COL4A1	109642603	0.969000	0.33509	0.984000	0.44739	0.993000	0.82548	3.931000	0.56529	2.409000	0.81822	0.655000	0.94253	GAC		0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	74	0	0	0	1	0	9	74					A	110844602	C	A	110844602	3	1	174	1	0	0	0	0	1	0	0	0	3689	884	31	4	3630	4	COL4A1	13	110844602	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		110844602	4325276	18	3034											
CTAGE5	4253	broad.mit.edu	37	14	39777757	39777757	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:39777757G>A	ENST00000280083.3	+	13	1473	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E922K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E312K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E358K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E392K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E307K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E375K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E358K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E387K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E387K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E358K			O15320	CTGE5_HUMAN	CTAGE family, member 5	387					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AGTAATGACTGAATTATATCA	0.284																																						uc001wvi.4																		CTAGE5/SIP1(2)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1174-1176)Gaa>Aaa		Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.							40	45	44					14																	39777757		2183	4244	6427	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39777757G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1159G>A	14.37:g.39777757G>A	ENSP00000280083:p.Glu387Lys		Somatic				CTAGE5_uc010tqe.1_Missense_Mutation_p.E349K|CTAGE5_uc001wuy.4_Missense_Mutation_p.E307K|CTAGE5_uc001wuz.4_Missense_Mutation_p.E375K|CTAGE5_uc001wva.4_Missense_Mutation_p.E358K|CTAGE5_uc001wvb.4_Missense_Mutation_p.E358K|CTAGE5_uc001wvc.4_Missense_Mutation_p.E332K|CTAGE5_uc001wve.1_Missense_Mutation_p.E363K|CTAGE5_uc001wvf.4_Missense_Mutation_p.E312K|CTAGE5_uc001wvg.4_Missense_Mutation_p.E387K|CTAGE5_uc001wvh.4_Missense_Mutation_p.E387K|CTAGE5_uc010amz.3_Missense_Mutation_p.E3K|CTAGE5_uc001wvj.4_Missense_Mutation_p.E358K	p.E392K	NM_001247989	NP_001234918	WXS	Illumina GAIIx	Phase_I	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	12	1510	+	Hepatocellular(127;0.213)		387					B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.1174G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185574	0.94885	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79352	2.32;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.62	5.62	0.85841	.	.	.	.	.	D	0.89887	0.6845	M	0.89904	3.07	0.50313	D	0.999868	P;P;P;P;D;P	0.63880	0.92;0.92;0.776;0.92;0.993;0.92	P;P;P;P;D;P	0.68039	0.73;0.73;0.469;0.73;0.955;0.73	D	0.91121	0.4930	8	.	.	.	.	17.4578	0.87612	0.0:0.0:1.0:0.0	.	349;392;387;387;358;375	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	K	922;375;307;349;358;387;392;387;312;387;358	ENSP00000452252:E922K;ENSP00000343897:E375K;ENSP00000450869:E307K;ENSP00000379468:E358K;ENSP00000339286:E387K;ENSP00000379462:E392K;ENSP00000280083:E387K;ENSP00000452562:E312K;ENSP00000343912:E387K;ENSP00000450449:E358K	.	E	+	1	0	CTAGE5;RP11-407N17.3	38847508	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	6.773000	0.75006	2.665000	0.90641	0.585000	0.79938	GAA		0.284	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		5	100	0	0	0	1	0	5	100					A	39777757	G	A	39777757	3	1	174	1	0	0	0	0	1	0	0	0	3994	1291	45	2	1240	2	CTAGE5	14	39777757	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		39777757	67571783	19	3035											
SLC8A3	6547	broad.mit.edu	37	14	70522512	70522512	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:70522512C>T	ENST00000381269.2	-	4	2660		c.e4+1		SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000528359.1_Splice_Site|SLC8A3_ENST00000534137.1_Splice_Site|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000357887.3_Splice_Site	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3						blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCTCTTACCTGGAGATAA	0.403																																						uc001xly.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.e4+1		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.							75	74	74					14																	70522512		2203	4300	6503	SO:0001630	splice_region_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70522512C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1906+1G>A	14.37:g.70522512C>T			Somatic				SLC8A3_uc001xlv.3_Intron|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Splice_Site_p.D636_splice|SLC8A3_uc001xlx.3_Splice_Site_p.D637_splice|SLC8A3_uc001xlz.3_Intron|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	p.D636_splice	NM_183002	NP_892114	WXS	Illumina GAIIx	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	4	2660	-			636					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Splice_Site	SNP	ENST00000381269.2	37	c.1906_splice	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607082	0.66558	.	.	ENSG00000100678	ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3	0.87180	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC8A3	69592265	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	3.505000	0.53356	2.941000	0.99782	0.655000	0.94253	.		0.403	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		Intron	15	16	0	0	0	1	0	15	16					T	70522512	C	T	70522512	5	4	174	1	0	0	0	0	0	0	1	0	14708	521	18	2	896	2	SLC8A3	14	70522512	Splice_Site	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	30744755	70522512	36827028	20	3036											
SERPINA1	5265	broad.mit.edu	37	14	94847272	94847272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr14:94847272G>A	ENST00000448921.1	-	5	1425	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.Q285*|SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.Q285*	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	285					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTGCTGTAGTTTCCCC	0.507																																						uc001ycx.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(853-855)Cag>Tag		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA.	Alpha-1-proteinase inhibitor(DB00058)						156	149	152					14																	94847272		2203	4300	6503	SO:0001587	stop_gained	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847272G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.853C>T	14.37:g.94847272G>A	ENSP00000416066:p.Gln285*		Somatic				SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycy.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.Q285*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.Q285*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.Q285*	p.Q285*	NM_000295	NP_001121179	WXS	Illumina GAIIx	Phase_I	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	1114	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	285					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Nonsense_Mutation	SNP	ENST00000448921.1	37	c.853C>T	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	38	6.878248	0.97904	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	.	.	.	5.18	-3.82	0.04281	.	0.726457	0.12374	N	0.474528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	4.1041	0.10028	0.0751:0.292:0.1666:0.4663	.	.	.	.	X	285	.	ENSP00000348068:Q285X	Q	-	1	0	SERPINA1	93917025	0.545000	0.26449	0.000000	0.03702	0.008000	0.06430	0.722000	0.25925	-0.264000	0.09365	0.555000	0.69702	CAG		0.507	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		12	135	0	0	0	1	0	12	135					A	94847272	G	A	94847272	4	1	174	1	0	0	0	0	0	1	0	0	14086	1386	48	2	415	2	SERPINA1	14	94847272	Nonsense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	24324760	94847272	12502268	21	3037											
SPATA8	145946	broad.mit.edu	37	15	97328316	97328316	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr15:97328316G>A	ENST00000328504.3	+	3	554	c.287G>A	c.(286-288)aGt>aAt	p.S96N	SPATA8-AS1_ENST00000558722.1_RNA|SPATA8_ENST00000558553.1_Silent_p.K55K	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	96										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			AACAGGAGAAGTGTCCTGTTT	0.473																																						uc002bue.3																			0				large_intestine(4)|lung(8)|ovary(1)|skin(3)	16						c.(286-288)aGt>aAt		Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.							168	155	159					15																	97328316		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97328316G>A	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.287G>A	15.37:g.97328316G>A	ENSP00000328149:p.Ser96Asn		Somatic				DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	p.S96N	NM_173499	NP_775770	WXS	Illumina GAIIx	Phase_I	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		2	494	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		96					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.287G>A	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	9.873	1.199472	0.22121	.	.	ENSG00000185594	ENST00000328504	T	0.35048	1.33	3.52	-1.65	0.08291	.	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19844	-1.0293	9	0.87932	D	0	.	4.1291	0.10141	0.3612:0.2037:0.4351:0.0	.	96	Q6RVD6	SPAT8_HUMAN	N	96	ENSP00000328149:S96N	ENSP00000328149:S96N	S	+	2	0	SPATA8	95129320	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.999000	0.03697	-0.319000	0.08652	-0.257000	0.10917	AGT		0.473	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		56	68	0	0	0	1	0	56	68					A	97328316	G	A	97328316	3	1	174	1	0	0	0	0	1	0	0	0	15014	1029	36	2	297	2	SPATA8	15	97328316	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		97328316	5203076	22	3038											
APOB48R	55911	broad.mit.edu	37	16	28507219	28507219	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:28507219C>T	ENST00000431282.1	+	2	867	c.857C>T	c.(856-858)aCc>aTc	p.T286I	CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.T286I|APOBR_ENST00000328423.5_Missense_Mutation_p.T286I|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	286	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCAGGACAACCCCAGGTAGG	0.632																																						uc002dqb.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(856-858)aCc>aTc		Homo sapiens apolipoprotein B receptor (APOBR), mRNA.							26	29	28					16																	28507219		1994	4148	6142	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507219C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.857C>T	16.37:g.28507219C>T	ENSP00000416094:p.Thr286Ile		Somatic				NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Intron	p.T286I	NM_018690	NP_061160	WXS	Illumina GAIIx	Phase_I	Q0VD83	APOBR_HUMAN			1	890	+			286			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.857C>T		.	.	.	.	.	.	.	.	.	.	C	8.836	0.941155	0.18281	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58652	0.32;0.32	3.62	-0.854	0.10705	.	.	.	.	.	T	0.30479	0.0766	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.17319	-1.0373	7	0.31617	T	0.26	.	4.0835	0.09937	0.0:0.3338:0.3386:0.3277	.	.	.	.	I	286	ENSP00000327669:T286I;ENSP00000416094:T286I	ENSP00000327669:T286I	T	+	2	0	APOBR	28414720	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.301000	0.02749	-0.220000	0.09988	-0.364000	0.07487	ACC		0.632	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		11	16	0	0	0	1	0	11	16					T	28507219	C	T	28507219	3	4	174	1	0	0	0	0	1	0	0	0	786	507	18	2	863	2	APOB48R	16	28507219	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		28507219	61847534	23	3039											
LONP2	83752	broad.mit.edu	37	16	48311247	48311247	+	Splice_Site	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48311247A>T	ENST00000285737.4	+	8	1334		c.e8-1		LONP2_ENST00000535754.1_Splice_Site	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGCTTTCTCTAGGCGCACCTA	0.463																																						uc002efi.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e8-2		Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.							104	96	99					16																	48311247		2200	4300	6500	SO:0001630	splice_region_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48311247A>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1242-1A>T	16.37:g.48311247A>T			Somatic				MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Splice_Site|LONP2_uc002efj.1_Splice_Site_p.R370_splice	p.R414_splice	NM_031490	NP_113678	WXS	Illumina GAIIx	Phase_I	Q86WA8	LONP2_HUMAN			8	1331	+			414						Splice_Site	SNP	ENST00000285737.4	37	c.1242_splice	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062798	0.76187	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.162	0.81727	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LONP2	46868748	1.000000	0.71417	0.930000	0.37139	0.645000	0.38454	9.287000	0.95975	2.224000	0.72417	0.533000	0.62120	.		0.463	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	Intron	4	85	0	0	0	1	0	4	85					T	48311247	A	T	48311247	5	4	174	1	0	0	0	0	0	0	1	0	8893	434	15	5	1270	5	LONP2	16	48311247	Splice_Site	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08	19804028	48311247	42043506	24	3040											
LONP2	83752	broad.mit.edu	37	16	48381506	48381506	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr16:48381506G>A	ENST00000285737.4	+	13	2120	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	LONP2_ENST00000535754.1_Missense_Mutation_p.R632Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGCGAGTCGAATGGATGGC	0.557																																						uc002efi.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2026-2028)cGa>cAa		Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.							129	128	128					16																	48381506		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48381506G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2027G>A	16.37:g.48381506G>A	ENSP00000285737:p.Arg676Gln		Somatic				MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R632Q	p.R676Q	NM_031490	NP_113678	WXS	Illumina GAIIx	Phase_I	Q86WA8	LONP2_HUMAN			12	2116	+			676						Missense_Mutation	SNP	ENST00000285737.4	37	c.2027G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453446	0.96223	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.29655	1.56;1.56	6.06	6.06	0.98353	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65323	0.934;0.934	T	0.07578	-1.0765	10	0.12766	T	0.61	-11.7093	20.6208	0.99490	0.0:0.0:1.0:0.0	.	632;676	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	676;405;632	ENSP00000285737:R676Q;ENSP00000445426:R632Q	ENSP00000285737:R676Q	R	+	2	0	LONP2	46939007	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	7.856000	0.86956	2.882000	0.98803	0.655000	0.94253	CGA		0.557	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		4	100	0	0	0	1	0	4	100					A	48381506	G	A	48381506	3	1	174	1	0	0	0	0	1	0	0	0	8893	1058	37	1	2077	1	LONP2	16	48381506	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08	70259	48381506	41973247	25	3041											
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:7572986G>A	ENST00000269305.4	-	11	1312	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q375*|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	375	Basic (repression of DNA-binding).|Interaction with CARM1.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(1)|p.Q375*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGTAGACTGACCCTTTTTG	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		10	Whole gene deletion(8)|Substitution - Nonsense(1)|Unknown(1)	p.0?(8)|p.Q375*(2)|p.?(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|urinary_tract(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1123-1125)Cag>Tag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							193	173	180					17																	7572986		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7572986G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1123C>T	17.37:g.7572986G>A	ENSP00000269305:p.Gln375*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q243*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q375*	p.Q375*	NM_001126112	NP_001119587	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1317	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	375			Basic (repression of DNA-binding).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1123C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079412	0.76528	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	5.31	3.18	0.36537	.	0.952987	0.08806	N	0.891079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-7.9939	7.7108	0.28677	0.0:0.1941:0.6294:0.1765	.	.	.	.	X	375;375;364;26	.	ENSP00000269305:Q375X	Q	-	1	0	TP53	7513711	0.963000	0.33076	0.841000	0.33234	0.615000	0.37417	1.786000	0.38694	1.427000	0.47276	0.561000	0.74099	CAG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	142	0	0	0	1	0	6	142					A	7572986	G	A	7572986	4	1	174	1	0	0	0	0	0	1	0	0	16378	1299	45	2	62	2	TP53	17	7572986	Nonsense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		7572986	73622224	26	3042											
EVPL	2125	broad.mit.edu	37	17	74015142	74015142	+	Splice_Site	SNP	C	C	G			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr17:74015142C>G	ENST00000301607.3	-	11	1391		c.e11-1		EVPL_ENST00000586740.1_Splice_Site	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin						epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTTCCTCTGCCTGCCGGGGGC	0.657																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.e11-1		Homo sapiens envoplakin (EVPL), mRNA.							10	13	12					17																	74015142		2182	4261	6443	SO:0001630	splice_region_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74015142C>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1138-1G>C	17.37:g.74015142C>G			Somatic				EVPL_uc002jqi.2_Splice_Site_p.A380_splice|EVPL_uc010wst.1_Splice_Site	p.A380_splice	NM_001988	NP_001979	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			11	1366	-			380			Globular 1.		A0AUV5	Splice_Site	SNP	ENST00000301607.3	37	c.1138_splice	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415025	0.42817	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7365	0.85448	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EVPL	71526737	1.000000	0.71417	0.998000	0.56505	0.216000	0.24613	3.653000	0.54446	2.375000	0.81037	0.491000	0.48974	.		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	Intron	12	23	0	0	0	1	0	12	23					G	74015142	C	G	74015142	5	3	174	1	0	0	0	0	0	0	1	0	5292	695	24	4	5012	4	EVPL	17	74015142	Splice_Site	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	66442156	74015142	7180068	27	3043											
C19orf57	79173	broad.mit.edu	37	19	14015679	14015679	+	Silent	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr19:14015679G>A	ENST00000586783.1	-	1	26	c.27C>T	c.(25-27)acC>acT	p.T9T	CC2D1A_ENST00000318003.7_5'Flank|C19orf57_ENST00000591586.1_Silent_p.T9T|CC2D1A_ENST00000589606.1_5'Flank|C19orf57_ENST00000454313.1_Silent_p.T9T|C19orf57_ENST00000346736.2_Silent_p.T9T			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	9					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGTACCTGAGGTCCGCAGCT	0.413																																						uc002mxl.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(25-27)acC>acT		Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.							212	181	192					19																	14015679		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14015679G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.27C>T	19.37:g.14015679G>A			Somatic				CC2D1A_uc002mxn.2_5'Flank|CC2D1A_uc002mxo.2_5'Flank|CC2D1A_uc002mxp.2_5'Flank	p.T9T	NM_024323	NP_077299	WXS	Illumina GAIIx	Phase_I	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		1	86	-			9					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.27C>T																																																																																					0.413	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		4	129	0	0	0	1	0	4	129					A	14015679	G	A	14015679	2	1	174	1	0	0	0	0	0	0	0	1	1939	987	35	2		2	C19orf57	19	14015679	Silent	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		14015679	45113304	28	3044											
PROKR2	128674	broad.mit.edu	37	20	5283032	5283032	+	Missense_Mutation	SNP	C	C	T	rs146544539	byFrequency	TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:5283032C>T	ENST00000217270.3	-	2	808	c.809G>A	c.(808-810)cGc>cAc	p.R270H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R270H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	270					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGTCTTCCTGCGGCAGCGCAG	0.597										HNSCC(71;0.22)			C|||	2	0.000399361	0	0	5008	,	,		21104	0		0.001	False		,,,				2504	0.001					uc010zqw.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(808-810)cGc>cAc		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	52	55		809	5.1	1.0	20	dbSNP_134	55	0,8600		0,0,4300	no	missense	PROKR2	NM_144773.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	270/385	5283032	1,13005	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283032C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.809G>A	20.37:g.5283032C>T	ENSP00000217270:p.Arg270His	HNSCC(71;0.22)	Somatic				PROKR2_uc010zqx.2_Missense_Mutation_p.R270H|PROKR2_uc010zqy.2_Missense_Mutation_p.R270H	p.R270H	NM_144773	NP_658986	WXS	Illumina GAIIx	Phase_I	Q8NFJ6	PKR2_HUMAN			1	817	-			270					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.809G>A	CCDS13089.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	27.8	4.867771	0.91587	2.27E-4	0.0	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.72725	-0.68;-0.68	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.048745	0.85682	D	0.000000	D	0.84579	0.5503	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86918	0.2065	10	0.87932	D	0	.	15.9064	0.79433	0.0:1.0:0.0:0.0	.	270	Q8NFJ6	PKR2_HUMAN	H	270	ENSP00000440790:R270H;ENSP00000217270:R270H	ENSP00000217270:R270H	R	-	2	0	PROKR2	5231032	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.346000	0.79347	2.370000	0.80446	0.655000	0.94253	CGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		9	57	0	0	0	1	0	9	57					T	5283032	C	T	5283032	3	4	174	1	0	0	0	0	1	0	0	0	12553	768	27	1	348	1	PROKR2	20	5283032	Missense_Mutation	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08		5283032	57742488	29	3045											
CDH26	60437	broad.mit.edu	37	20	58558037	58558037	+	Silent	SNP	C	C	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr20:58558037C>T	ENST00000244047.5	+	5	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CDH26_ENST00000348616.4_Silent_p.F151F			Q8IXH8	CAD26_HUMAN	cadherin 26	151	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTGATTTTCAACATTAGGA	0.413																																						uc002ybe.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(451-453)ttC>ttT		Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.							166	166	166					20																	58558037		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58558037C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.453C>T	20.37:g.58558037C>T			Somatic				CDH26_uc010zzy.2_Non-coding_Transcript	p.F151F	NM_177980	NP_817089	WXS	Illumina GAIIx	Phase_I	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		4	764	+	all_lung(29;0.00963)		151			Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.453C>T																																																																																					0.413	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		9	199	0	0	0	1	0	9	199					T	58558037	C	T	58558037	2	4	174	1	0	0	0	0	0	0	0	1	3110	825	29	2		2	CDH26	20	58558037	Silent	SNP	C	TCGA-EL-A3D6-01A-12D-A202-08	53275005	58558037	4467483	30	3046											
TMPRSS15	5651	broad.mit.edu	37	21	19770245	19770245	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chr21:19770245A>T	ENST00000284885.3	-	3	328	c.295T>A	c.(295-297)Tca>Aca	p.S99T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	99	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGATTGCTTGATAGAAAGATC	0.244																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(295-297)Tca>Aca		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							15	16	16					21																	19770245		2135	4213	6348	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770245A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.295T>A	21.37:g.19770245A>T	ENSP00000284885:p.Ser99Thr		Somatic					p.S99T	NM_002772	NP_002763	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			2	326	-			99			SEA.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.295T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	7.800	0.713433	0.15306	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.34275	1.37;1.37	4.68	3.44	0.39384	SEA (3);	0.371268	0.26048	N	0.026655	T	0.22704	0.0548	L	0.31294	0.92	0.27805	N	0.942355	B	0.18741	0.03	B	0.19946	0.027	T	0.07635	-1.0762	9	.	.	.	.	7.1124	0.25399	0.7999:0.0:0.0:0.2001	.	99	P98073	ENTK_HUMAN	T	99;54	ENSP00000284885:S99T;ENSP00000398253:S54T	.	S	-	1	0	TMPRSS15	18692116	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.745000	0.38278	2.076000	0.62316	0.523000	0.50628	TCA		0.244	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		3	9	0	0	0	1	0	3	9					T	19770245	A	T	19770245	3	4	174	1	0	0	0	0	1	0	0	0	16243	333	12	5	2856	5	TMPRSS15	21	19770245	Missense_Mutation	SNP	A	TCGA-EL-A3D6-01A-12D-A202-08		19770245	28359650	31	3047											
HDAC8	55869	broad.mit.edu	37	X	71681859	71681859	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3D6-01A-12D-A202-08	TCGA-EL-A3D6-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	354c1945-1933-45ff-a68b-a3c3ca0558d2	2131b331-eeb2-4b90-aae6-cd22b0b97b78	g.chrX:71681859G>A	ENST00000373573.3	-	9	1341	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	HDAC8_ENST00000373589.4_Missense_Mutation_p.H243Y|HDAC8_ENST00000429103.2_Missense_Mutation_p.H139Y|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	334			H -> R (in CDLS5). {ECO:0000269|PubMed:22885700}.		chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	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)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTTACCTCATGATCTGGGATC	0.483																																						uc004eau.3																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(1000-1002)Cat>Tat		Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	Vorinostat(DB02546)						119	94	102					X																	71681859		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding	g.chrX:71681859G>A	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.1000C>T	X.37:g.71681859G>A	ENSP00000362674:p.His334Tyr		Somatic				HDAC8_uc011mqe.2_Missense_Mutation_p.H191Y|HDAC8_uc011mqg.2_Missense_Mutation_p.H243Y|HDAC8_uc011mqf.2_Non-coding_Transcript	p.H334Y	NM_018486	NP_060956	WXS	Illumina GAIIx	Phase_I	Q9BY41	HDAC8_HUMAN			8	1342	-	Renal(35;0.156)		334					A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.1000C>T	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139049	0.77775	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.62	5.62	0.85841	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.997;0.996;0.999	P;P;P	0.60415	0.703;0.792;0.874	D	0.91271	0.5044	10	0.56958	D	0.05	-14.4908	15.8943	0.79323	0.0:0.0:1.0:0.0	.	243;243;334	B4DKN0;A6NGJ7;Q9BY41	.;.;HDAC8_HUMAN	Y	334;243;139;243	ENSP00000362674:H334Y;ENSP00000362691:H243Y;ENSP00000388459:H139Y;ENSP00000362669:H243Y	ENSP00000362669:H243Y	H	-	1	0	HDAC8	71598584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.352000	0.79861	0.594000	0.82650	CAT		0.483	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		28	62	0	0	0	1	0	28	62					A	71681859	G	A	71681859	3	1	174	1	0	0	0	0	1	0	0	0	7013	1290	45	2	145	2	HDAC8	23	71681859	Missense_Mutation	SNP	G	TCGA-EL-A3D6-01A-12D-A202-08		71681859	83588701	32	3048											
CSMD2	114784	broad.mit.edu	37	1	34011735	34011735	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:34011735A>G	ENST00000373381.4	-	57	9178	c.9002T>C	c.(9001-9003)aTg>aCg	p.M3001T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2974	Sushi 22. {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)				GCTGAAGCGCATCACAGTGCC	0.617																																						uc001bxm.1																			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.(9001-9003)aTg>aCg		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							75	66	69					1																	34011735		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34011735A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9002T>C	1.37:g.34011735A>G	ENSP00000362479:p.Met3001Thr		Somatic				CSMD2_uc001bxn.1_Missense_Mutation_p.M2857T	p.M3001T	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			56	9179	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2974			Sushi 22.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9002T>C		.	.	.	.	.	.	.	.	.	.	A	16.11	3.030891	0.54790	.	.	ENSG00000121904	ENST00000373381	T	0.63913	-0.07	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.338945	0.31415	N	0.007692	T	0.47746	0.1462	N	0.11698	0.16	0.80722	D	1	B;B	0.22604	0.017;0.072	B;B	0.29524	0.065;0.103	T	0.51301	-0.8723	10	0.87932	D	0	.	13.9925	0.64376	1.0:0.0:0.0:0.0	.	2857;3001	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	3001	ENSP00000362479:M3001T	ENSP00000241312:M2857T	M	-	2	0	CSMD2	33784322	1.000000	0.71417	0.851000	0.33527	0.789000	0.44602	9.031000	0.93731	2.094000	0.63399	0.528000	0.53228	ATG		0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		34	24	0	0	0	1	0	34	24					G	34011735	A	G	34011735	3	3	175	1	0	0	0	0	1	0	0	0	3945	217	8	3	1949	3	CSMD2	1	34011735	Missense_Mutation	SNP	A	TCGA-EL-A3GO-01A-11D-A202-08		34011735	215238886	1	3049											
CCDC24	149473	broad.mit.edu	37	1	44457888	44457888	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:44457888C>T	ENST00000372318.3	+	3	302	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	44										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTGCAGGTGGCGATGTTACGG	0.642																																						uc001clj.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(130-132)gCg>gTg		Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.							74	80	78					1																	44457888		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44457888C>T		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.131C>T	1.37:g.44457888C>T	ENSP00000361392:p.Ala44Val		Somatic				SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Intron	p.A44V	NM_152499	NP_689712	WXS	Illumina GAIIx	Phase_I	Q8N4L8	CCD24_HUMAN			2	302	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	44					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.131C>T	CCDS507.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112732	0.37242	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.12	2.9	0.33743	.	0.669484	0.12224	N	0.488071	T	0.15522	0.0374	N	0.08118	0	0.24330	N	0.995007	B	0.17465	0.022	B	0.12156	0.007	T	0.18618	-1.0331	9	0.24483	T	0.36	-20.9488	2.5045	0.04641	0.3028:0.3782:0.0:0.319	.	44	Q8N4L8	CCD24_HUMAN	V	44	.	ENSP00000361392:A44V	A	+	2	0	CCDC24	44230475	0.334000	0.24739	0.581000	0.28614	0.937000	0.57800	0.082000	0.14847	1.003000	0.39130	0.313000	0.20887	GCG		0.642	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		12	120	0	0	0	1	0	12	120					T	44457888	C	T	44457888	3	4	175	1	0	0	0	0	1	0	0	0	2799	768	27	1	137	1	CCDC24	1	44457888	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	10446153	44457888	204792733	2	3050											
DNAH1	25981	broad.mit.edu	37	3	52433173	52433173	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:52433173C>A	ENST00000420323.2	+	76	12658	c.12397C>A	c.(12397-12399)Cgc>Agc	p.R4133S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4198					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)	p.R4197S(1)|p.R4133S(1)		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)		GAATTTTGCCCGCAAATTTGT	0.537																																						uc011bef.2																			2	Substitution - Missense(2)	p.R4197S(1)|p.R4133S(1)	lung(2)	cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12397-12399)Cgc>Agc		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							307	309	309					3																	52433173		1932	4123	6055	SO:0001583	missense	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.chr3:52433173C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12397C>A	3.37:g.52433173C>A	ENSP00000401514:p.Arg4133Ser		Somatic				DNAH1_uc003ddv.3_Missense_Mutation_p.R991S	p.R4133S	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	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)	75	12658	+			4198					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12397C>A	CCDS46842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.52|19.52	3.843842|3.843842	0.71488|0.71488	.|.	.|.	ENSG00000114841|ENSG00000114841	ENST00000273600|ENST00000420323	.|T	.|0.14640	.|2.49	4.5|4.5	3.55|3.55	0.40652|0.40652	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.53981|0.53981	0.1830|0.1830	H|H	0.99507|0.99507	4.6|4.6	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.998	T|T	0.69727|0.69727	-0.5067|-0.5067	6|10	0.87932|0.87932	D|D	0|0	.|.	10.3034|10.3034	0.43665|0.43665	0.3864:0.6136:0.0:0.0|0.3864:0.6136:0.0:0.0	.|.	.|4133;4198	.|C9JXH6;Q9P2D7-2	.|.;.	Q|S	885|4133	.|ENSP00000401514:R4133S	ENSP00000273600:P885Q|ENSP00000401514:R4133S	P|R	+|+	2|1	0|0	DNAH1|DNAH1	52408213|52408213	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.420000|1.420000	0.34804|0.34804	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.537	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	444	0	0	0	1	0	5	444					A	52433173	C	A	52433173	3	1	175	1	0	0	0	0	1	0	0	0	4597	652	23	4	12695	4	DNAH1	3	52433173	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		52433173	145589257	3	3051											
SHQ1	55164	broad.mit.edu	37	3	72897455	72897455	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:72897455C>G	ENST00000325599.8	-	1	176	c.37G>C	c.(37-39)Gac>Cac	p.D13H	SHQ1_ENST00000463369.1_5'Flank	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	13	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTCAGGAAGTCCGGATCCTGG	0.657																																						uc003dpf.3																			0		p.P12S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(37-39)Gac>Cac		Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.							73	74	74					3																	72897455		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72897455C>G	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.37G>C	3.37:g.72897455C>G	ENSP00000315182:p.Asp13His		Somatic				SHQ1_uc010hod.3_5'UTR	p.D13H	NM_018130	NP_060600	WXS	Illumina GAIIx	Phase_I	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	0	144	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	13			CS.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.37G>C	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180711	0.78677	.	.	ENSG00000144736	ENST00000325599	T	0.34072	1.38	5.81	4.94	0.65067	CS-like domain (1);HSP20-like chaperone (1);	0.258918	0.44097	D	0.000497	T	0.53610	0.1807	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	P	0.55871	0.786	T	0.59337	-0.7473	10	0.62326	D	0.03	-12.4143	13.9276	0.63972	0.0:0.9257:0.0:0.0743	.	13	Q6PI26	SHQ1_HUMAN	H	13	ENSP00000315182:D13H	ENSP00000315182:D13H	D	-	1	0	SHQ1	72980145	0.999000	0.42202	0.881000	0.34555	0.096000	0.18686	4.348000	0.59379	1.470000	0.48102	0.655000	0.94253	GAC		0.657	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		3	120	0	0	0	1	0	3	120					G	72897455	C	G	72897455	3	3	175	1	0	0	0	0	1	0	0	0	14292	855	30	4	1740	4	SHQ1	3	72897455	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	20464282	72897455	125124975	4	3052											
SLITRK3	22865	broad.mit.edu	37	3	164906194	164906194	+	Missense_Mutation	SNP	G	G	A	rs200230304	byFrequency	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:164906194G>A	ENST00000475390.1	-	2	2868	c.2425C>T	c.(2425-2427)Cgg>Tgg	p.R809W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R809W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	809					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						AGCAAGGTCCGGTAGTTACTA	0.557										HNSCC(40;0.11)			G|||	2	0.000399361	0	0.0014	5008	,	,		18760	0		0	False		,,,				2504	0.001					uc003fej.4																			0				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.(2425-2427)Cgg>Tgg		Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.							91	95	94					3																	164906194		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906194G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2425C>T	3.37:g.164906194G>A	ENSP00000420091:p.Arg809Trp	HNSCC(40;0.11)	Somatic				SLITRK3_uc003fek.3_Missense_Mutation_p.R809W|SLITRK3_uc021xgy.1_Missense_Mutation_p.R809W	p.R809W	NM_014926	NP_055741	WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			1	2869	-			809					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2425C>T	CCDS3197.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.51	2.556862	0.45590	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.59083	0.29;0.29	5.65	3.85	0.44370	.	0.000000	0.34338	N	0.004049	T	0.58666	0.2138	N	0.24115	0.695	0.47994	D	0.999561	D	0.89917	1.0	D	0.75020	0.985	T	0.60571	-0.7237	10	0.87932	D	0	-13.7172	7.3709	0.26800	0.0762:0.0:0.5278:0.3961	.	809	O94933	SLIK3_HUMAN	W	809	ENSP00000420091:R809W;ENSP00000241274:R809W	ENSP00000241274:R809W	R	-	1	2	SLITRK3	166388888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.961000	0.29267	0.923000	0.37045	0.655000	0.94253	CGG		0.557	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	117	0	0	0	1	0	4	117					A	164906194	G	A	164906194	3	1	175	1	0	0	0	0	1	0	0	0	14744	1115	39	1	512	1	SLITRK3	3	164906194	Missense_Mutation	SNP	G	TCGA-EL-A3GO-01A-11D-A202-08	92008739	164906194	33116236	5	3053											
TECPR1	25851	broad.mit.edu	37	7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs			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																																						uc003upg.3																			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		Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.							18	23	21					7																	97858474		1922	4094	6016	SO:0001589	frameshift_variant	25851					integral to membrane	protein binding	g.chr7:97858474delA		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2287delT	7.37:g.97858474delA	ENSP00000404923:p.Trp763fs		Somatic				TECPR1_uc003uph.1_Frame_Shift_Del_p.W693fs	p.W763fs	NM_015395	NP_056210	WXS	Illumina GAIIx	Phase_I	Q7Z6L1	TCPR1_HUMAN			15	2492	-			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	NM_015395		2	4						2	4	---	---	---	---	-	97858474	A	-	97858474	7	5	175	1	0	1	0	1	0	0	0	0	15740	130	5	0	1254	0	TECPR1	7	97858474	Frame_Shift_Del	DEL	A	TCGA-EL-A3GO-01A-11D-A202-08		97858474	61280189	6	3054											
BRAF	673	broad.mit.edu	37	7	140481431	140481431	+	Silent	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:140481431C>G	ENST00000288602.6	-	11	1437	c.1377G>C	c.(1375-1377)gtG>gtC	p.V459V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TTCTTTGTCCCACTGTAATCT	0.403		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0		p.V459L(1)		NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1375-1377)gtG>gtC		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						167	144	152					7																	140481431		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481431C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1377G>C	7.37:g.140481431C>G			Somatic					p.V459V	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			10	1438	-	Melanoma(164;0.00956)		459			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.1377G>C	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074473	0.20227	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.62	2.48	0.30137	.	.	.	.	.	T	0.67458	0.2895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65487	-0.6156	4	.	.	.	.	13.5723	0.61853	0.6435:0.3565:0.0:0.0	.	.	.	.	S	67	.	.	W	-	2	0	BRAF	140127900	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	0.209000	0.17435	0.678000	0.31325	0.585000	0.79938	TGG		0.403	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		3	122	0	0	0	1	0	3	122					G	140481431	C	G	140481431	2	3	175	1	0	0	0	0	0	0	0	1	1496	581	21	4		4	BRAF	7	140481431	Silent	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08	42622957	140481431	18657232	7	3055											
OR51F1	256892	broad.mit.edu	37	11	4790251	4790251	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:4790251T>A	ENST00000380383.1	-	1	917	c.918A>T	c.(916-918)aaA>aaT	p.K306N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.K299N			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCGGATTTGTTTTGTTTTTA	0.438																																						uc010qyl.2																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(895-897)aaA>aaT		Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.							95	93	94					11																	4790251		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790251T>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.918A>T	11.37:g.4790251T>A	ENSP00000369744:p.Lys306Asn		Somatic					p.K299N	NM_001004752	NP_001004752	WXS	Illumina GAIIx	Phase_I	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	897	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	299						Missense_Mutation	SNP	ENST00000380383.1	37	c.897A>T		.	.	.	.	.	.	.	.	.	.	T	10.25	1.299244	0.23650	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.45668	0.89;0.89	5.43	3.05	0.35203	.	0.114281	0.39475	N	0.001349	T	0.50411	0.1614	M	0.85630	2.765	0.28435	N	0.917072	D	0.56287	0.975	P	0.48368	0.575	T	0.54529	-0.8280	10	0.87932	D	0	.	7.45	0.27234	0.0:0.0911:0.1526:0.7562	.	306	A6NGY5	O51F1_HUMAN	N	299;306	ENSP00000345163:K299N;ENSP00000369744:K306N	ENSP00000345163:K299N	K	-	3	2	OR51F1	4746827	0.049000	0.20398	1.000000	0.80357	0.035000	0.12851	-0.072000	0.11486	1.071000	0.40834	0.533000	0.62120	AAA		0.438	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		37	50	0	0	0	1	0	37	50					A	4790251	T	A	4790251	3	1	175	1	0	0	0	0	1	0	0	0	11096	1722	60	5	44	5	OR51F1	11	4790251	Missense_Mutation	SNP	T	TCGA-EL-A3GO-01A-11D-A202-08		4790251	130216265	8	3056											
SBF2	81846	broad.mit.edu	37	11	9812167	9812167	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:9812167A>C	ENST00000256190.8	-	34	4771	c.4634T>G	c.(4633-4635)aTt>aGt	p.I1545S	SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1545	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATTCTGTCAATACATTCCCA	0.294																																						uc001mib.2																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4633-4635)aTt>aGt		Homo sapiens SET binding factor 2 (SBF2), mRNA.							82	100	94					11																	9812167		2201	4285	6486	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9812167A>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4634T>G	11.37:g.9812167A>C	ENSP00000256190:p.Ile1545Ser		Somatic				LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.I189S|SBF2_uc001mic.2_5'Flank|BC073899_uc001mie.3_Intron	p.I1545S	NM_030962	NP_112224	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	33	4772	-			1545			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4634T>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124350	0.56613	.	.	ENSG00000133812	ENST00000256190	D	0.91068	-2.78	6.17	6.17	0.99709	Myotubularin phosphatase domain (1);	0.041747	0.85682	D	0.000000	D	0.90219	0.6942	M	0.65975	2.015	0.80722	D	1	B	0.28439	0.212	B	0.28139	0.086	D	0.88496	0.3079	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1545	Q86WG5	MTMRD_HUMAN	S	1545	ENSP00000256190:I1545S	ENSP00000256190:I1545S	I	-	2	0	SBF2	9768743	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	ATT		0.294	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	155	0	0	0	1	0	3	155					C	9812167	A	C	9812167	3	2	175	1	0	0	0	0	1	0	0	0	13859	101	4	5	943	5	SBF2	11	9812167	Missense_Mutation	SNP	A	TCGA-EL-A3GO-01A-11D-A202-08	5021916	9812167	125194349	9	3057											
DYNC2H1	79659	broad.mit.edu	37	11	103029464	103029464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:103029464delG	ENST00000375735.2	+	27	4330	c.4186delG	c.(4186-4188)ggafs	p.G1396fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.G1396fs|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	1396	Stem. {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)		TACTCATGCTGGAATAAGAAA	0.269																																						uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(4186-4188)ggafs		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							15	15	15					11																	103029464		1776	4010	5786	SO:0001589	frameshift_variant	79659				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103029464delG	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4186delG	11.37:g.103029464delG	ENSP00000364887:p.Gly1396fs		Somatic				DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.G1396fs	p.G1396fs	NM_001080463	NP_001073932	WXS	Illumina GAIIx	Phase_I	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	4330	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1396			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	ENST00000375735.2	37	c.4186delG	CCDS53701.1																																																																																				0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		2	4						2	4	---	---	---	---	-	103029464	G	-	103029464	7	5	175	1	0	1	0	1	0	0	0	0	4846	1349	47	0	4292	0	DYNC2H1	11	103029464	Frame_Shift_Del	DEL	G	TCGA-EL-A3GO-01A-11D-A202-08	93217297	103029464	31977052	10	3058											
DICER1	23405	broad.mit.edu	37	14	95557639	95557639	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:95557639C>G	ENST00000526495.1	-	27	5719	c.5428G>C	c.(5428-5430)Gat>Cat	p.D1810H	DICER1_ENST00000556045.1_Missense_Mutation_p.D708H|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810H|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810H|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1810	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> H (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> Y (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCAAAAATATCCCCCATGGCC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0		p.D1810A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5428-5430)Gat>Cat		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							226	231	229					14																	95557639		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557639C>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5428G>C	14.37:g.95557639C>G	ENSP00000437256:p.Asp1810His		Somatic				DICER1_uc010avh.1_Missense_Mutation_p.D708H|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.D1800H|DICER1_uc001ydx.2_Missense_Mutation_p.D1810H	p.D1810H	NM_030621	NP_803187	WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5640	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1810			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5428G>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931478	0.92389	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79	5.6	5.6	0.85130	Ribonuclease III (5);	0.050139	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99421	1.0933	10	0.87932	D	0	-24.389	19.6256	0.95677	0.0:1.0:0.0:0.0	.	708;1810	B3KRG4;Q9UPY3	.;DICER_HUMAN	H	1810;1810;1810;1810;708	ENSP00000343745:D1810H;ENSP00000437256:D1810H;ENSP00000376783:D1810H;ENSP00000435681:D1810H;ENSP00000451041:D708H	ENSP00000343745:D1810H	D	-	1	0	DICER1	94627392	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.316000	0.79007	2.605000	0.88082	0.655000	0.94253	GAT		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			92	167	0	0	0	1	0	92	167					G	95557639	C	G	95557639	3	3	175	1	0	0	0	0	1	0	0	0	4521	855	30	4	352	4	DICER1	14	95557639	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		95557639	11791901	11	3059											
STAC2	342667	broad.mit.edu	37	17	37371255	37371255	+	Missense_Mutation	SNP	C	C	T	rs370925083		TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:37371255C>T	ENST00000333461.5	-	6	1090	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	241					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCCCCATCCTCGGTCAGCTCA	0.632																																						uc002hrs.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(721-723)Gag>Aag		Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.			LYS/GLU	0,4406		0,0,2203	185	166	172		721	4.9	0.9	17		172	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAC2	NM_198993.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	241/412	37371255	1,13005	2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371255C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.721G>A	17.37:g.37371255C>T	ENSP00000327509:p.Glu241Lys		Somatic				STAC2_uc010cvt.3_Missense_Mutation_p.E99K	p.E241K	NM_198993	NP_945344	WXS	Illumina GAIIx	Phase_I	Q6ZMT1	STAC2_HUMAN			5	1006	-			241					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.721G>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	19.02	3.746675	0.69418	0.0	1.16E-4	ENSG00000141750	ENST00000333461	T	0.80909	-1.43	4.89	4.89	0.63831	.	0.236511	0.36374	N	0.002629	T	0.78349	0.4269	L	0.59436	1.845	0.33714	D	0.616181	B	0.14438	0.01	B	0.10450	0.005	T	0.81479	-0.0914	10	0.54805	T	0.06	-10.6034	15.901	0.79377	0.0:1.0:0.0:0.0	.	241	Q6ZMT1	STAC2_HUMAN	K	241	ENSP00000327509:E241K	ENSP00000327509:E241K	E	-	1	0	STAC2	34624781	0.994000	0.37717	0.946000	0.38457	0.985000	0.73830	4.225000	0.58600	2.429000	0.82318	0.506000	0.49869	GAG		0.632	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		87	154	0	0	0	1	0	87	154					T	37371255	C	T	37371255	3	4	175	1	0	0	0	0	1	0	0	0	15239	893	31	1	538	1	STAC2	17	37371255	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		37371255	43823955	12	3060											
HEATR6	63897	broad.mit.edu	37	17	58143675	58143675	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:58143675T>A	ENST00000184956.6	-	9	1327	c.1311A>T	c.(1309-1311)aaA>aaT	p.K437N	HEATR6_ENST00000585976.1_Missense_Mutation_p.K437N	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	437							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CATAAAGAACTTTTTTTTCTA	0.383																																						uc002iyk.1																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1309-1311)aaA>aaT		Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.							46	54	51					17																	58143675		2201	4300	6501	SO:0001583	missense	63897						binding	g.chr17:58143675T>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1311A>T	17.37:g.58143675T>A	ENSP00000184956:p.Lys437Asn		Somatic				HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Missense_Mutation_p.K269N	p.K437N	NM_022070	NP_071353	WXS	Illumina GAIIx	Phase_I	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		8	1328	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		437					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1311A>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231215	0.58777	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.47528	0.84	5.8	4.73	0.59995	Armadillo-type fold (1);	0.130840	0.64402	D	0.000001	T	0.50769	0.1635	L	0.54323	1.7	0.30914	N	0.728794	P;P	0.51147	0.942;0.901	P;P	0.51079	0.658;0.506	T	0.59621	-0.7420	10	0.72032	D	0.01	-12.3257	8.428	0.32739	0.0:0.1484:0.0:0.8516	.	284;437	E7ESB9;Q6AI08	.;HEAT6_HUMAN	N	437;284	ENSP00000184956:K437N	ENSP00000184956:K437N	K	-	3	2	HEATR6	55498457	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.679000	0.25291	1.160000	0.42584	0.524000	0.50904	AAA		0.383	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		16	40	0	0	0	1	0	16	40					A	58143675	T	A	58143675	3	1	175	1	0	0	0	0	1	0	0	0	7033	1606	56	5	2282	5	HEATR6	17	58143675	Missense_Mutation	SNP	T	TCGA-EL-A3GO-01A-11D-A202-08	20772420	58143675	23051535	13	3061											
ARHGEF6	9459	broad.mit.edu	37	X	135767911	135767911	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chrX:135767911C>A	ENST00000250617.6	-	12	2522	c.1317G>T	c.(1315-1317)tgG>tgT	p.W439C	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.W312C|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.W285C	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	439					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCTTCCCATGCCTGAA	0.393																																						uc004fab.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1315-1317)tgG>tgT		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							161	130	140					X																	135767911		2203	4300	6503	SO:0001583	missense	9459				JNK cascade|apoptosis|cell junction assembly|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|Rho guanyl-nucleotide exchange factor activity	g.chrX:135767911C>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1317G>T	X.37:g.135767911C>A	ENSP00000250617:p.Trp439Cys		Somatic				ARHGEF6_uc011mwd.2_Missense_Mutation_p.W312C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.W285C	p.W439C	NM_004840	NP_004831	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			11	1779	-	Acute lymphoblastic leukemia(192;0.000127)		439					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1317G>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	c	14.74	2.625696	0.46840	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.36	5.36	0.76844	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80850	-0.1198	10	0.87932	D	0	.	18.1967	0.89825	0.0:1.0:0.0:0.0	.	312;439	B7Z3C7;Q15052	.;ARHG6_HUMAN	C	439;285;285;285;312	ENSP00000250617:W439C;ENSP00000359654:W285C;ENSP00000359656:W285C;ENSP00000439483:W312C	ENSP00000250617:W439C	W	-	3	0	ARHGEF6	135595577	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	7.815000	0.86186	2.235000	0.73313	0.519000	0.50382	TGG		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		13	121	0	0	0	1	0	13	121					A	135767911	C	A	135767911	3	1	175	1	0	0	0	0	1	0	0	0	910	624	22	4	1057	4	ARHGEF6	23	135767911	Missense_Mutation	SNP	C	TCGA-EL-A3GO-01A-11D-A202-08		135767911	19502649	14	3062											
FAAH	2166	broad.mit.edu	37	1	46877297	46877298	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:46877297_46877298delCT	ENST00000243167.8	+	12	1414_1415	c.1330_1331delCT	c.(1330-1332)ctcfs	p.L444fs		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	444					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGCTGGAAAACTCTGGGAACTG	0.594																																						uc001cpu.2																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(1330-1332)ctcfs		Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	Propofol(DB00818)|Thiopental(DB00599)																																			SO:0001589	frameshift_variant	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46877297_46877298delCT	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1330_1331delCT	1.37:g.46877299_46877300delCT	ENSP00000243167:p.Leu444fs		Somatic				FAAH_uc001cpv.2_Intron	p.L444fs	NM_001441	NP_001432	WXS	Illumina GAIIx	Phase_I	O00519	FAAH1_HUMAN			11	1412_1413	+	Acute lymphoblastic leukemia(166;0.155)		444					D3DQ19|Q52M86|Q5TDF8	Frame_Shift_Del	DEL	ENST00000243167.8	37	c.1330_1331delCT	CCDS535.1																																																																																				0.594	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		16	33						16	33	---	---	---	---	-	46877298	CT	-	46877297	7	5	176	1	0	1	0	1	0	0	0	0	5353	565	20	0	1376	0	FAAH	1	46877297	Frame_Shift_Del	DEL	CT	TCGA-EL-A3GP-01A-11D-A202-08		46877297	202373324	1	3063											
OR2T27	403239	broad.mit.edu	37	1	248813367	248813367	+	Silent	SNP	A	A	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr1:248813367A>T	ENST00000344889.3	-	1	818	c.819T>A	c.(817-819)gcT>gcA	p.A273A		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGATACAGCTTTGTCCT	0.522																																						uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(817-819)gcT>gcA		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.							72	65	67					1																	248813367		2180	4275	6455	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813367A>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"GPCR / Class A : Olfactory receptors"	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.819T>A	1.37:g.248813367A>T			Somatic					p.A273A	NM_001001824	NP_001001824	WXS	Illumina GAIIx	Phase_I	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	819	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	273						Silent	SNP	ENST00000344889.3	37	c.819T>A	CCDS31124.1																																																																																				0.522	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		38	33	0	0	0	1	0	38	33					T	248813367	A	T	248813367	2	4	176	1	0	0	0	0	0	0	0	1	11021	175	7	5		5	OR2T27	1	248813367	Silent	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	201936070	248813367	437254	2	3064											
NLRC4	58484	broad.mit.edu	37	2	32477651	32477651	+	Silent	SNP	C	C	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:32477651C>G	ENST00000404025.2	-	4	587	c.99G>C	c.(97-99)ctG>ctC	p.L33L	NLRC4_ENST00000402280.1_Silent_p.L33L|NLRC4_ENST00000342905.6_Silent_p.L33L|NLRC4_ENST00000360906.5_Silent_p.L33L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	33	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTTCGCGATTCAGAACATTCC	0.403																																						uc002roi.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(97-99)ctG>ctC		Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.							159	145	149					2																	32477651		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32477651C>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.99G>C	2.37:g.32477651C>G			Somatic				NLRC4_uc021vfq.1_Silent_p.L33L|NLRC4_uc002roj.2_Silent_p.L33L|NLRC4_uc010ezt.2_Silent_p.L33L	p.L33L	NM_001199138	NP_001186067	WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			2	360	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		33			CARD.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.99G>C	CCDS33174.1																																																																																				0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		3	166	0	0	0	1	0	3	166					G	32477651	C	G	32477651	2	3	176	1	0	0	0	0	0	0	0	1	10469	813	29	4		4	NLRC4	2	32477651	Silent	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08		32477651	210721722	3	3065											
STAT1	6772	broad.mit.edu	37	2	191862642	191862642	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr2:191862642C>G	ENST00000361099.3	-	9	1112	c.725G>C	c.(724-726)aGa>aCa	p.R242T	STAT1_ENST00000392323.2_Missense_Mutation_p.R244T|STAT1_ENST00000392322.3_Missense_Mutation_p.R242T|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.R242T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	242					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GCTCTGCTGTCTCCGCTTCCA	0.483																																						uc010fse.2																			0		p.R241W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(724-726)aGa>aCa		Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	Fludarabine(DB01073)						79	75	77					2																	191862642		2203	4300	6503	SO:0001583	missense	6772				I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity	g.chr2:191862642C>G		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.725G>C	2.37:g.191862642C>G	ENSP00000354394:p.Arg242Thr		Somatic				STAT1_uc021vue.1_Missense_Mutation_p.R54T|STAT1_uc002usj.2_Missense_Mutation_p.R242T|STAT1_uc002usk.2_Missense_Mutation_p.R242T|STAT1_uc002usl.2_Missense_Mutation_p.R244T|STAT1_uc010fsf.1_Missense_Mutation_p.R54T	p.R242T	NM_007315	NP_009330	WXS	Illumina GAIIx	Phase_I	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		7	1157	-			242					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.725G>C	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068218	0.76301	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.28	5.28	0.74379	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	D	0.85041	0.0923	10	0.72032	D	0.01	-27.766	19.1174	0.93346	0.0:1.0:0.0:0.0	.	242;242	P42224-2;P42224	.;STAT1_HUMAN	T	242;242;242;244;150	ENSP00000354394:R242T;ENSP00000386244:R242T;ENSP00000376136:R242T;ENSP00000376137:R244T	ENSP00000354394:R242T	R	-	2	0	STAT1	191570887	0.981000	0.34729	0.156000	0.22583	0.434000	0.31775	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	AGA		0.483	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		3	64	0	0	0	1	0	3	64					G	191862642	C	G	191862642	3	3	176	1	0	0	0	0	1	0	0	0	15263	913	32	4	1599	4	STAT1	2	191862642	Missense_Mutation	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08	159384991	191862642	51336731	4	3066											
UBP1	7342	broad.mit.edu	37	3	33451063	33451063	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:33451063G>A	ENST00000283629.3	-	6	1115	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	UBP1_ENST00000283628.5_Missense_Mutation_p.R196W|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.R196W	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	196					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CCGTGCTTCCGTGGAGTAAAT	0.418																																						uc003cfq.4																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(586-588)Cgg>Tgg		Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.							110	106	107					3																	33451063		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33451063G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.586C>T	3.37:g.33451063G>A	ENSP00000283629:p.Arg196Trp		Somatic				UBP1_uc003cfr.4_Missense_Mutation_p.R196W|UBP1_uc010hga.3_Missense_Mutation_p.R196W	p.R196W	NM_014517	NP_055332	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			5	1116	-			196					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.586C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040841	0.55003	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.18810	2.19;2.19;2.19	6.17	5.3	0.74995	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85710	2.77	0.80722	D	1	B;P	0.43542	0.333;0.81	B;P	0.46299	0.061;0.511	T	0.49661	-0.8916	10	0.87932	D	0	-12.0005	17.0755	0.86585	0.0:0.0:0.872:0.1279	.	196;196	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	W	196	ENSP00000283629:R196W;ENSP00000395558:R196W;ENSP00000283628:R196W	ENSP00000283628:R196W	R	-	1	2	UBP1	33426067	0.999000	0.42202	0.997000	0.53966	0.992000	0.81027	2.631000	0.46502	1.609000	0.50190	0.655000	0.94253	CGG		0.418	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		22	86	0	0	0	1	0	22	86					A	33451063	G	A	33451063	3	1	176	1	0	0	0	0	1	0	0	0	16892	1144	40	1	1080	1	UBP1	3	33451063	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		33451063	164571367	5	3067											
DOCK3	1795	broad.mit.edu	37	3	51399384	51399384	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:51399384G>A	ENST00000266037.9	+	48	5124	c.5101G>A	c.(5101-5103)Ggc>Agc	p.G1701S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1701					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)		GCTGGGTGACGGCTCCATGGG	0.567																																						uc011bds.2																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5101-5103)Ggc>Agc		Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.							88	92	90					3																	51399384		2151	4256	6407	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	g.chr3:51399384G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5101G>A	3.37:g.51399384G>A	ENSP00000266037:p.Gly1701Ser		Somatic					p.G1701S	NM_004947	NP_004938	WXS	Illumina GAIIx	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	47	5124	+			1701					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5101G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	1.698	-0.502187	0.04261	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04317	3.65	5.31	-0.0328	0.13903	.	0.409694	0.31847	N	0.006972	T	0.01800	0.0057	N	0.04018	-0.295	0.23089	N	0.998315	B	0.06786	0.001	B	0.04013	0.001	T	0.48647	-0.9017	10	0.02654	T	1	.	9.775	0.40614	0.6426:0.0:0.3574:0.0	.	1701	Q8IZD9	DOCK3_HUMAN	S	1701;497	ENSP00000266037:G1701S	ENSP00000266037:G1701S	G	+	1	0	DOCK3	51374424	1.000000	0.71417	0.925000	0.36789	0.419000	0.31324	2.190000	0.42630	0.107000	0.17824	-0.302000	0.09304	GGC		0.567	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	13	0	0	0	1	0	6	13					A	51399384	G	A	51399384	3	1	176	1	0	0	0	0	1	0	0	0	4688	1116	39	1	5291	1	DOCK3	3	51399384	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	17948321	51399384	146623046	6	3068											
CCDC54	84692	broad.mit.edu	37	3	107097052	107097052	+	Silent	SNP	C	C	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:107097052C>T	ENST00000261058.1	+	1	865	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	206										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AGTCCACTGACCATCTTGAGA	0.393																																						uc003dwi.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(616-618)gaC>gaT		Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.							73	73	73					3																	107097052		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107097052C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.618C>T	3.37:g.107097052C>T			Somatic					p.D206D	NM_032600	NP_115989	WXS	Illumina GAIIx	Phase_I	Q8NEL0	CCD54_HUMAN			0	865	+			206					Q96A43	Silent	SNP	ENST00000261058.1	37	c.618C>T	CCDS2949.1																																																																																				0.393	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		34	81	0	0	0	1	0	34	81					T	107097052	C	T	107097052	2	4	176	1	0	0	0	0	0	0	0	1	2824	506	18	2		2	CCDC54	3	107097052	Silent	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08	55697668	107097052	90925378	7	3069											
ALDH1L1	10840	broad.mit.edu	37	3	125850235	125850235	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr3:125850235T>C	ENST00000393434.2	-	13	1964	c.1615A>G	c.(1615-1617)Aag>Gag	p.K539E	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.K438E|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.K539E|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.K549E	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	539	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACCTGGATCTTGTCACACCAG	0.607																																						uc003eim.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1615-1617)Aag>Gag		Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	Tetrahydrofolic acid(DB00116)						141	136	138					3																	125850235		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125850235T>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1615A>G	3.37:g.125850235T>C	ENSP00000377083:p.Lys539Glu		Somatic				ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.K438E|ALDH1L1_uc003eio.3_Missense_Mutation_p.K241E	p.K539E	NM_012190	NP_036322	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	12	1805	-			539			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1615A>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	T	18.98	3.738676	0.69304	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.05	4.05	0.47172	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87440	0.2394	10	0.87932	D	0	.	11.2444	0.48987	0.0:0.0:0.0:1.0	.	438;539	E9PBX3;O75891	.;AL1L1_HUMAN	E	549;539;438;539	ENSP00000273450:K549E;ENSP00000420293:K539E;ENSP00000395881:K438E;ENSP00000377083:K539E	ENSP00000273450:K549E	K	-	1	0	ALDH1L1	127332925	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.277000	0.78572	1.815000	0.52974	0.383000	0.25322	AAG		0.607	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		86	224	0	0	0	1	0	86	224					C	125850235	T	C	125850235	3	2	176	1	0	0	0	0	1	0	0	0	494	1821	63	3	1137	3	ALDH1L1	3	125850235	Missense_Mutation	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08	18753183	125850235	72172195	8	3070											
AGGF1	55109	broad.mit.edu	37	5	76331518	76331518	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:76331518A>G	ENST00000312916.7	+	3	848	c.466A>G	c.(466-468)Aca>Gca	p.T156A	AGGF1_ENST00000506806.1_Missense_Mutation_p.T156A|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	156					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TACCGATAGAACAGAAAATGT	0.353																																						uc003ket.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(466-468)Aca>Gca		Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.							92	92	92					5																	76331518		2203	4300	6503	SO:0001583	missense	55109				RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76331518A>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.466A>G	5.37:g.76331518A>G	ENSP00000316109:p.Thr156Ala		Somatic				AGGF1_uc003kes.3_Missense_Mutation_p.T156A|AGGF1_uc003keu.1_Non-coding_Transcript	p.T156A	NM_018046	NP_060516	WXS	Illumina GAIIx	Phase_I	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	2	848	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	156					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.466A>G	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	A	8.141	0.785192	0.16189	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.78816	1.2;-1.21	5.75	3.23	0.37069	.	0.797682	0.12034	N	0.505702	T	0.63402	0.2508	L	0.29908	0.895	0.09310	N	1	B;B	0.17268	0.005;0.021	B;B	0.23419	0.006;0.046	T	0.47169	-0.9138	10	0.12430	T	0.62	-4.8762	6.8657	0.24093	0.7952:0.0:0.0717:0.1331	.	156;156	Q8N302;Q8N302-3	AGGF1_HUMAN;.	A	156	ENSP00000316109:T156A;ENSP00000424733:T156A	ENSP00000316109:T156A	T	+	1	0	AGGF1	76367274	0.000000	0.05858	0.009000	0.14445	0.247000	0.25773	1.015000	0.29963	0.385000	0.24970	0.528000	0.53228	ACA		0.353	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		18	70	0	0	0	1	0	18	70					G	76331518	A	G	76331518	3	3	176	1	0	0	0	0	1	0	0	0	382	43	2	3	476	3	AGGF1	5	76331518	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		76331518	104583742	9	3071											
PCDHA3	56145	broad.mit.edu	37	5	140181378	140181378	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr5:140181378A>G	ENST00000522353.2	+	1	596	c.596A>G	c.(595-597)aAt>aGt	p.N199S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.N199S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	199	Cadherin 2. {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(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAAAAAAATTTAAATCGA	0.368																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(595-597)aAt>aGt		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							58	60	60					5																	140181378		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181378A>G	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.596A>G	5.37:g.140181378A>G	ENSP00000429808:p.Asn199Ser		Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.N199S	p.N199S	NM_018906	NP_061729	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	596	+			214			Cadherin 2.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.596A>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.014999	0.00042	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50813	0.73;0.73	4.86	-1.92	0.07618	Cadherin (4);Cadherin-like (1);	1.577750	0.04326	U	0.351602	T	0.12475	0.0303	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.26503	-1.0101	10	0.07990	T	0.79	.	6.2978	0.21095	0.1653:0.5433:0.0:0.2914	.	199;199	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	199	ENSP00000429808:N199S;ENSP00000434086:N199S	ENSP00000429808:N199S	N	+	2	0	PCDHA3	140161562	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-1.491000	0.02302	-0.250000	0.09555	-0.691000	0.03719	AAT		0.368	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		3	107	0	0	0	1	0	3	107					G	140181378	A	G	140181378	3	3	176	1	0	0	0	0	1	0	0	0	11525	101	4	3	598	3	PCDHA3	5	140181378	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	63849860	140181378	40733882	10	3072											
SYNE1	23345	broad.mit.edu	37	6	152765610	152765611	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr6:152765610_152765611TG>CT	ENST00000367255.5	-	30	4373_4374	c.3772_3773CA>AG	c.(3772-3774)CAa>AGa	p.Q1258R	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1324R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1265R|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1258R|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1248R|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1258R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1258					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)		CTTCTCAGCTTGTTCCTGGACT	0.366										HNSCC(10;0.0054)																												uc021zhb.1																			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.(3772-3774)caa>AGa		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.																																				SO:0001583	missense	23345				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	g.chr6:152765610_152765611TG>CT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3772_3773delinsCT	6.37:g.152765610_152765611delinsCT	ENSP00000356224:p.Gln1258Arg	HNSCC(10;0.0054)	Somatic				SYNE1_uc003qot.4_Missense_Mutation_p.Q1265R|SYNE1_uc003qou.4_Missense_Mutation_p.Q1258R|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1241R|SYNE1_uc003qow.3_Missense_Mutation_p.Q553R|SYNE1_uc003qox.1_Missense_Mutation_p.Q774R	p.Q1258R	NM_182961	NP_892006	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	27	3995_3996	-		Ovarian(120;0.0955)	1258					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	DNP	ENST00000367255.5	37	c.3772_3773CA>AG	CCDS5236.2																																																																																				0.366	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	86	0	0	0	1	0	29	86					CT	152765611	TG	CT	152765610	3	2	176	1	0	0	0	0	1	0	0	0	15442	1812	63	3	23161	3	SYNE1	6	152765610	Missense_Mutation	DNP	TG	TCGA-EL-A3GP-01A-11D-A202-08		152765610	18349457	11	3073											
SPDYE5	0	broad.mit.edu	37	7	75124522	75124522	+	IGR	SNP	A	A	G			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:75124522A>G								POM121C (8974 upstream) : PMS2P3 (12552 downstream)																							TGGCTGGAAAAGGAAGAGGGA	0.577																																						uc011kfy.2																			0											c.(88-90)Agg>Ggg		Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.							9	9	9					7																	75124522		1350	2273	3623	SO:0001628	intergenic_variant	442590							g.chr7:75124522A>G																													7.37:g.75124522A>G			Somatic					p.R30G	NM_001099435	NP_001092905	WXS	Illumina GAIIx	Phase_I	A6NIY4	SPDE5_HUMAN			0	224	+			30						Missense_Mutation	SNP		37	c.88A>G																																																																																				0	0.577									3	57	0	0	0	1	0	3	57					G	75124522	A	G	75124522	1	3	176	0	1	0	0	0	0	0	0	0	15031	63	3	3		3	SPDYE5	7	75124522	IGR	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		75124522	84014141	12	3074											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	74	0	0	0	1	0	24	74					T	140453136	A	T	140453136	3	4	176	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	65328614	140453136	18685527	13	3075											
ZNF746	155061	broad.mit.edu	37	7	149171562	149171562	+	Silent	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr7:149171562G>A	ENST00000340622.3	-	7	2128	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S	ZNF746_ENST00000458143.2_Silent_p.S617S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	616					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGTCCTTTGGAGGCGGGGC	0.687																																						uc010lpi.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1849-1851)tcC>tcT		Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.							33	33	33					7																	149171562		2200	4298	6498	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171562G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1848C>T	7.37:g.149171562G>A			Somatic				ZNF746_uc003wfw.2_Silent_p.S616S	p.S617S	NM_001163474	NP_001156946	WXS	Illumina GAIIx	Phase_I	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2122	-	Melanoma(164;0.165)		616					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.1851C>T	CCDS5897.1																																																																																				0.687	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		13	15	0	0	0	1	0	13	15					A	149171562	G	A	149171562	2	1	176	1	0	0	0	0	0	0	0	1	18126	1335	47	2		2	ZNF746	7	149171562	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	8718426	149171562	9967101	14	3076											
PCDH15	65217	broad.mit.edu	37	10	55782771	55782771	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr10:55782771G>C	ENST00000320301.6	-	19	2801	c.2407C>G	c.(2407-2409)Cta>Gta	p.L803V	PCDH15_ENST00000395438.1_Missense_Mutation_p.L803V|PCDH15_ENST00000373955.1_Missense_Mutation_p.L803V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L781V|PCDH15_ENST00000437009.1_Missense_Mutation_p.L732V|PCDH15_ENST00000409834.1_Missense_Mutation_p.L414V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L803V|PCDH15_ENST00000414778.1_Missense_Mutation_p.L808V|PCDH15_ENST00000395432.2_Missense_Mutation_p.L766V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.L810V|PCDH15_ENST00000373965.2_Missense_Mutation_p.L810V|PCDH15_ENST00000395430.1_Missense_Mutation_p.L803V|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	803	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L808I(1)|p.L803I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCAAGGTTAGAGTTGAATGA	0.443										HNSCC(58;0.16)																												uc010qhy.1																			2	Substitution - Missense(2)	p.L808I(1)|p.L803I(1)	pancreas(2)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2422-2424)Cta>Gta		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							198	177	184					10																	55782771		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782771G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2407C>G	10.37:g.55782771G>C	ENSP00000322604:p.Leu803Val	HNSCC(58;0.16)	Somatic				PCDH15_uc010qhq.2_Missense_Mutation_p.L808V|PCDH15_uc010qhr.2_Missense_Mutation_p.L803V|PCDH15_uc021pqv.1_Missense_Mutation_p.L803V|PCDH15_uc021pqw.1_Missense_Mutation_p.L815V|PCDH15_uc010qht.2_Missense_Mutation_p.L810V|PCDH15_uc021pqx.1_Missense_Mutation_p.L803V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.L803V|PCDH15_uc021pqz.1_Missense_Mutation_p.L781V|PCDH15_uc010qhv.1_Missense_Mutation_p.L803V|PCDH15_uc010qhw.1_Missense_Mutation_p.L766V|PCDH15_uc010qhx.1_Missense_Mutation_p.L732V|PCDH15_uc010qhz.1_Missense_Mutation_p.L803V|PCDH15_uc010qia.1_Missense_Mutation_p.L781V|PCDH15_uc001jju.1_Missense_Mutation_p.L803V|PCDH15_uc010qib.1_Missense_Mutation_p.L781V|PCDH15_uc001jjw.3_Missense_Mutation_p.L803V	p.L808V	NM_001142763	NP_001136235	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			19	2817	-		Melanoma(3;0.117)|Lung SC(717;0.238)	803			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2422C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	1.296	-0.606256	0.03717	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.67	-0.106	0.13596	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29945	0.0749	N	0.03294	-0.36	0.09310	N	0.999997	P;B;P;B;P;P;P;P;P;D;B;P;B;B	0.54601	0.484;0.09;0.694;0.022;0.479;0.484;0.484;0.935;0.943;0.967;0.418;0.89;0.3;0.09	P;B;P;B;B;P;P;P;P;P;B;P;B;B	0.58391	0.517;0.148;0.517;0.091;0.26;0.517;0.517;0.734;0.733;0.838;0.206;0.596;0.106;0.189	T	0.14615	-1.0466	9	0.14656	T	0.56	.	2.6737	0.05075	0.1747:0.1024:0.4131:0.3097	.	781;803;803;808;732;766;803;803;810;810;803;808;803;803	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	810;808;803;803;414;810;766;803;781;803;803;808;732;803	ENSP00000363076:L810V;ENSP00000410304:L808V;ENSP00000378826:L803V;ENSP00000386693:L414V;ENSP00000378832:L810V;ENSP00000378820:L766V;ENSP00000354950:L803V;ENSP00000378821:L781V;ENSP00000322604:L803V;ENSP00000378818:L803V;ENSP00000412628:L732V;ENSP00000363066:L803V	ENSP00000322604:L803V	L	-	1	2	PCDH15	55452777	0.017000	0.18338	0.287000	0.24848	0.401000	0.30781	0.226000	0.17776	-0.062000	0.13088	-2.724000	0.00131	CTA		0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	88	0	0	0	1	0	28	88					C	55782771	G	C	55782771	3	2	176	1	0	0	0	0	1	0	0	0	11511	933	33	4	5139	4	PCDH15	10	55782771	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		55782771	79751976	15	3077											
ACACB	32	broad.mit.edu	37	12	109650693	109650693	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:109650693G>A	ENST00000338432.7	+	22	3421	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	ACACB_ENST00000377848.3_Missense_Mutation_p.R1101Q|ACACB_ENST00000377854.5_Missense_Mutation_p.R1101Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1101					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAGGCTGATCGAGAGGTCTTC	0.542																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3301-3303)cGa>cAa		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						204	179	187					12																	109650693		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109650693G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3302G>A	12.37:g.109650693G>A	ENSP00000341044:p.Arg1101Gln		Somatic				ACACB_uc001toc.3_Missense_Mutation_p.R1101Q	p.R1101Q	NM_001093	NP_001084	WXS	Illumina GAIIx	Phase_I	O00763	ACACB_HUMAN			21	3421	+			1101					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3302G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587522	0.86851	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.47177	0.85;0.85;0.85	5.48	5.48	0.80851	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64685	-0.6349	10	0.54805	T	0.06	.	19.7462	0.96252	0.0:0.0:1.0:0.0	.	1101	O00763	ACACB_HUMAN	Q	1101;1101;1101;332	ENSP00000341044:R1101Q;ENSP00000367079:R1101Q;ENSP00000367085:R1101Q	ENSP00000341044:R1101Q	R	+	2	0	ACACB	108135076	1.000000	0.71417	0.973000	0.42090	0.927000	0.56198	9.756000	0.98918	2.736000	0.93811	0.655000	0.94253	CGA		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		50	121	0	0	0	1	0	50	121					A	109650693	G	A	109650693	3	1	176	1	0	0	0	0	1	0	0	0	107	1058	37	1	3384	1	ACACB	12	109650693	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		109650693	24201202	16	3078											
NOS1	4842	broad.mit.edu	37	12	117725989	117725989	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr12:117725989G>T	ENST00000344089.3	-	6	1758	c.1073C>A	c.(1072-1074)cCa>cAa	p.P358Q	NOS1_ENST00000317775.6_Silent_p.S339S|NOS1_ENST00000338101.4_Silent_p.S339S	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GATGCATGATGGAGCCCATGC	0.483																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1015-1017)tcC>tcA		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						115	112	113					12																	117725989		1960	4164	6124	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117725989G>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000344089.3:c.1073C>A	12.37:g.117725989G>T	ENSP00000339862:p.Pro358Gln		Somatic				NOS1_uc021ren.1_Silent_p.S3S|NOS1_uc021reo.1_Silent_p.S3S|NOS1_uc001twm.2_Silent_p.S339S	p.S339S	NM_001204218	NP_001191147	WXS	Illumina GAIIx	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	4	1728	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		339						Silent	SNP	ENST00000344089.3	37	c.1017C>A		.	.	.	.	.	.	.	.	.	.	G	14.71	2.617219	0.46736	.	.	ENSG00000089250	ENST00000344089	T	0.09073	3.02	5.93	3.06	0.35304	.	.	.	.	.	T	0.09555	0.0235	.	.	.	0.25567	N	0.986938	.	.	.	.	.	.	T	0.31861	-0.9928	6	0.87932	D	0	-31.1613	3.2003	0.06647	0.1717:0.2277:0.4837:0.117	.	.	.	.	Q	358	ENSP00000339862:P358Q	ENSP00000339862:P358Q	P	-	2	0	NOS1	116210372	0.008000	0.16893	1.000000	0.80357	0.895000	0.52256	-0.287000	0.08388	0.380000	0.24823	0.563000	0.77884	CCA		0.483	NOS1-201	KNOWN	basic	protein_coding	protein_coding				25	50	0	0	0	1	0	25	50					T	117725989	G	T	117725989	3	4	176	1	0	0	0	0	1	0	0	0	10541	1335	47	4	3387	4	NOS1	12	117725989	Missense_Mutation	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08	8075296	117725989	16125906	17	3079											
FAM48A	55578	broad.mit.edu	37	13	37583813	37583813	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr13:37583813A>C	ENST00000350612.6	-	26	2556	c.2336T>G	c.(2335-2337)tTt>tGt	p.F779C	SUPT20H_ENST00000464744.1_3'UTR|SUPT20H_ENST00000360252.4_3'UTR|SUPT20H_ENST00000356185.3_3'UTR|SUPT20H_ENST00000475892.1_3'UTR	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	779					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CAAGACTCAAAATTTTGGAGT	0.378																																						uc001uwg.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(2335-2337)tTt>tGt		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 1, mRNA.							155	155	155					13																	37583813		2203	4300	6503	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37583813A>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2336T>G	13.37:g.37583813A>C	ENSP00000218894:p.Phe779Cys		Somatic				FAM48A_uc010abt.3_3'UTR|FAM48A_uc001uwh.3_3'UTR|FAM48A_uc001uwi.3_3'UTR|FAM48A_uc001uwj.3_3'UTR|FAM48A_uc001uwk.3_3'UTR|FAM48A_uc001uwd.3_3'UTR|FAM48A_uc001uwe.3_Missense_Mutation_p.F263C|FAM48A_uc001uwf.3_Missense_Mutation_p.F345C	p.F779C	NM_001014286	NP_001014308	WXS	Illumina GAIIx	Phase_I	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	25	2584	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	779					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.2336T>G	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.602|9.602	1.128980|1.128980	0.21041|0.21041	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000350612|ENST00000469488	T|.	0.36520|.	1.25|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.117949|0.117949	0.38837|0.38837	N|N	0.001554|0.001554	T|T	0.60715|0.60715	0.2290|0.2290	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P|.	0.39576|.	0.679|.	B|.	0.40702|.	0.338|.	T|T	0.64449|0.64449	-0.6405|-0.6405	10|7	0.87932|0.87932	D|D	0|0	.|.	9.5838|9.5838	0.39504|0.39504	0.9159:0.0:0.0841:0.0|0.9159:0.0:0.0841:0.0	.|.	779|.	Q8NEM7|.	FA48A_HUMAN|.	C|V	779|322	ENSP00000218894:F779C|.	ENSP00000218894:F779C|ENSP00000419787:F322V	F|F	-|-	2|1	0|0	FAM48A|FAM48A	36481813|36481813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.657000|0.657000	0.38888|0.38888	1.846000|1.846000	0.39289|0.39289	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	TTT|TTT		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		58	111	0	0	0	1	0	58	111					C	37583813	A	C	37583813	3	2	176	1	0	0	0	0	1	0	0	0	5572	14	1	5	7	5	FAM48A	13	37583813	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08		37583813	77586065	18	3080											
USP6	9098	broad.mit.edu	37	17	5076150	5076150	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:5076150T>A	ENST00000574788.1	+	38	6328	c.4098T>A	c.(4096-4098)taT>taA	p.Y1366*	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Nonsense_Mutation_p.Y1049*|USP6_ENST00000250066.6_Nonsense_Mutation_p.Y1366*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1366	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCTTTTCTATGAGCAGCAGG	0.428			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(4096-4098)taT>taA		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							140	129	133					17																	5076150		2203	4297	6500	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5076150T>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4098T>A	17.37:g.5076150T>A	ENSP00000460380:p.Tyr1366*		Somatic				USP6_uc002gav.1_Nonsense_Mutation_p.Y1366*|USP6_uc010ckz.1_Nonsense_Mutation_p.Y1049*	p.Y1366*	NM_004505	NP_004496	WXS	Illumina GAIIx	Phase_I	P35125	UBP6_HUMAN			37	6328	+			1366					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.4098T>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	52	19.007308	0.99913	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.35	1.25	0.21368	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.584	0.07963	0.0:0.355:0.0:0.645	.	.	.	.	X	1366;1049	.	ENSP00000250066:Y1366X	Y	+	3	2	USP6	5016874	0.994000	0.37717	1.000000	0.80357	0.491000	0.33493	0.327000	0.19663	1.080000	0.41073	0.155000	0.16302	TAT		0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		44	115	0	0	0	1	0	44	115					A	5076150	T	A	5076150	4	1	176	1	0	0	0	0	0	1	0	0	17083	1471	51	5	4212	5	USP6	17	5076150	Nonsense_Mutation	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08		5076150	76119060	19	3081											
WSCD1	23302	broad.mit.edu	37	17	6014123	6014123	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr17:6014123A>C	ENST00000574946.1	+	7	1432	c.1042A>C	c.(1042-1044)Aac>Cac	p.N348H	WSCD1_ENST00000574232.1_Missense_Mutation_p.N348H|WSCD1_ENST00000539421.1_Missense_Mutation_p.N348H|WSCD1_ENST00000317744.5_Missense_Mutation_p.N348H|WSCD1_ENST00000573634.1_Missense_Mutation_p.N232H			Q658N2	WSCD1_HUMAN	WSC domain containing 1	348						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTTCCTGCCTAACAAATCCAA	0.493																																						uc010cli.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1042-1044)Aac>Cac		Homo sapiens WSC domain containing 1 (WSCD1), mRNA.							241	234	236					17																	6014123		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6014123A>C		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1042A>C	17.37:g.6014123A>C	ENSP00000460825:p.Asn348His		Somatic				WSCD1_uc002gcn.3_Missense_Mutation_p.N348H|WSCD1_uc002gco.3_Missense_Mutation_p.N348H|WSCD1_uc010clj.3_Missense_Mutation_p.N39H	p.N348H	NM_015253	NP_056068	WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			6	1421	+			348					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1042A>C	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951663	0.34471	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.31510	1.49;1.49	5.66	-1.23	0.09465	.	0.921371	0.09494	N	0.794513	T	0.17109	0.0411	L	0.27053	0.805	0.09310	N	1	B	0.24368	0.102	B	0.24541	0.054	T	0.28996	-1.0026	10	0.45353	T	0.12	-11.4931	1.9699	0.03404	0.5349:0.1237:0.2214:0.1201	.	348	Q658N2	WSCD1_HUMAN	H	348	ENSP00000323087:N348H;ENSP00000446032:N348H	ENSP00000323087:N348H	N	+	1	0	WSCD1	5954847	0.245000	0.23899	0.893000	0.35052	0.979000	0.70002	1.548000	0.36201	0.039000	0.15632	0.528000	0.53228	AAC		0.493	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		7	327	0	0	0	1	0	7	327					C	6014123	A	C	6014123	3	2	176	1	0	0	0	0	1	0	0	0	17403	362	13	5	1064	5	WSCD1	17	6014123	Missense_Mutation	SNP	A	TCGA-EL-A3GP-01A-11D-A202-08	937973	6014123	75181087	20	3082											
ASXL1	171023	broad.mit.edu	37	20	31022741	31022741	+	Silent	SNP	G	G	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:31022741G>C	ENST00000375687.4	+	13	2650	c.2226G>C	c.(2224-2226)ggG>ggC	p.G742G	ASXL1_ENST00000306058.5_Silent_p.G737G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	742					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCACAGATGGGCTAGGAGATG	0.577			"F, N, Mis"		"MDS, CMML"																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0		p.D741V(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2224-2226)ggG>ggC		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.							55	56	56					20																	31022741		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022741G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2226G>C	20.37:g.31022741G>C			Somatic				ASXL1_uc002wxs.3_Silent_p.G741G|ASXL1_uc010geb.3_Silent_p.G633G	p.G742G	NM_015338	NP_056153	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			12	2658	+			742					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2226G>C	CCDS13201.1																																																																																				0.577	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		16	25	0	0	0	1	0	16	25					C	31022741	G	C	31022741	2	2	176	1	0	0	0	0	0	0	0	1	1066	1190	42	4		4	ASXL1	20	31022741	Silent	SNP	G	TCGA-EL-A3GP-01A-11D-A202-08		31022741	32002779	21	3083											
KIAA1755	85449	broad.mit.edu	37	20	36869357	36869357	+	Silent	SNP	T	T	C			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr20:36869357T>C	ENST00000279024.4	-	3	1447	c.1176A>G	c.(1174-1176)tcA>tcG	p.S392S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	392										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGCTCTTGTGAGACACCTG	0.587																																						uc002xhy.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1174-1176)tcA>tcG		Homo sapiens KIAA1755 (KIAA1755), mRNA.							85	88	87					20																	36869357		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869357T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1176A>G	20.37:g.36869357T>C			Somatic				KIAA1755_uc002xhz.1_Silent_p.S392S	p.S392S	NM_001029864	NP_001025035	WXS	Illumina GAIIx	Phase_I	Q5JYT7	K1755_HUMAN			2	1448	-		Myeloproliferative disorder(115;0.00874)	392					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1176A>G	CCDS33467.1																																																																																				0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		71	158	0	0	0	1	0	71	158					C	36869357	T	C	36869357	2	2	176	1	0	0	0	0	0	0	0	1	8257	1683	59	3		3	KIAA1755	20	36869357	Silent	SNP	T	TCGA-EL-A3GP-01A-11D-A202-08	5846616	36869357	26156163	22	3084											
CYTH4	27128	broad.mit.edu	37	22	37688673	37688673	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GP-01A-11D-A202-08	TCGA-EL-A3GP-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0897af2-30df-472e-b4d6-343c98c51231	028e9464-4ba4-4319-888b-583c4bbed034	g.chr22:37688673C>A	ENST00000248901.6	+	2	218	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	CYTH4_ENST00000405206.3_Missense_Mutation_p.L11M|CYTH4_ENST00000402997.1_Missense_Mutation_p.L11M|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	11					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCCCGCGGAGCTGAGCAGCGG	0.612																																						uc003arf.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(31-33)Ctg>Atg		Homo sapiens cytohesin 4 (CYTH4), mRNA.							143	125	131					22																	37688673		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37688673C>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.31C>A	22.37:g.37688673C>A	ENSP00000248901:p.Leu11Met		Somatic				CYTH4_uc003ard.4_Missense_Mutation_p.L11M|CYTH4_uc003are.2_Missense_Mutation_p.L11M|CYTH4_uc011amw.2_5'UTR	p.L11M	NM_013385	NP_037517	WXS	Illumina GAIIx	Phase_I	Q9UIA0	CYH4_HUMAN			1	147	+			11					Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.31C>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880178	0.51801	.	.	ENSG00000100055	ENST00000457992;ENST00000248901;ENST00000422721;ENST00000402997;ENST00000405206;ENST00000404204	T;T;T;T	0.57436	0.4;2.8;0.45;0.43	4.83	4.83	0.62350	.	1.012730	0.07907	N	0.973581	T	0.73273	0.3566	M	0.81802	2.56	0.22017	N	0.999412	D;D	0.89917	0.999;1.0	D;D	0.76071	0.98;0.987	T	0.58165	-0.7684	10	0.62326	D	0.03	.	9.188	0.37182	0.0:0.9001:0.0:0.0999	.	11;24	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	M	11;11;24;11;11;11	ENSP00000405442:L11M;ENSP00000248901:L11M;ENSP00000385997:L11M;ENSP00000384280:L11M	ENSP00000248901:L11M	L	+	1	2	CYTH4	36018619	1.000000	0.71417	0.997000	0.53966	0.314000	0.28054	2.572000	0.45999	2.236000	0.73375	0.561000	0.74099	CTG		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			36	46	0	0	0	1	0	36	46					A	37688673	C	A	37688673	3	1	176	1	0	0	0	0	1	0	0	0	4206	796	28	4	37	4	CYTH4	22	37688673	Missense_Mutation	SNP	C	TCGA-EL-A3GP-01A-11D-A202-08		37688673	13615893	23	3085											
CENPF	1063	broad.mit.edu	37	1	214794133	214794133	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr1:214794133A>G	ENST00000366955.3	+	6	877	c.709A>G	c.(709-711)Att>Gtt	p.I237V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				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)		AAGAACTCCAATTAGGAGAGA	0.438																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.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.(709-711)Att>Gtt		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							96	107	103					1																	214794133		2203	4300	6503	SO:0001583	missense	1063				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|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.chr1:214794133A>G	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.709A>G	1.37:g.214794133A>G	ENSP00000355922:p.Ile237Val		Somatic					p.I237V	NM_016343	NP_057427	WXS	Illumina GAIIx	Phase_I	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)	5	883	+			237			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.709A>G	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	7.448	0.642033	0.14451	.	.	ENSG00000117724	ENST00000366955	T	0.21031	2.03	6.0	-7.79	0.01218	Centromere protein Cenp-F, N-terminal (1);	2.484470	0.02037	N	0.049033	T	0.08133	0.0203	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.20577	0.03	T	0.42582	-0.9443	9	0.02654	T	1	.	11.6792	0.51448	0.2175:0.3471:0.4354:0.0	.	237	P49454	CENPF_HUMAN	V	237	ENSP00000355922:I237V	ENSP00000355922:I237V	I	+	1	0	CENPF	212860756	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.753000	0.04792	-1.127000	0.02925	-0.520000	0.04383	ATT		0.438	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	169	0	0	0	1	0	4	169					G	214794133	A	G	214794133	3	3	177	1	0	0	0	0	1	0	0	0	3231	101	4	3	727	3	CENPF	1	214794133	Missense_Mutation	SNP	A	TCGA-EL-A3GQ-01A-11D-A202-08		214794133	34456488	1	3086											
SEC22C	9117	broad.mit.edu	37	3	42597460	42597460	+	Silent	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr3:42597460G>A	ENST00000264454.3	-	6	816	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	SEC22C_ENST00000273156.7_Silent_p.L225L|SEC22C_ENST00000417572.1_Silent_p.L225L|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000536332.1_Silent_p.L155L			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	225					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGAAAAGCCAGAATGTTTCCA	0.383																																						uc003clj.3																			0				endometrium(1)|large_intestine(2)	3						c.(673-675)Ctg>Ttg		Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.							117	102	107					3																	42597460		2203	4300	6503	SO:0001819	synonymous_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42597460G>A	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.673C>T	3.37:g.42597460G>A			Somatic				SEC22C_uc003clh.3_Silent_p.L225L|SEC22C_uc010hic.3_Intron|SEC22C_uc011azo.2_Silent_p.L155L|SEC22C_uc003cli.3_Silent_p.L225L	p.L225L	NM_032970	NP_116752	WXS	Illumina GAIIx	Phase_I	Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	5	883	-			225					O95152|Q68CX3|Q6UW18	Silent	SNP	ENST00000264454.3	37	c.673C>T	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841162	0.16891	.	.	ENSG00000093183	ENST00000451653	.	.	.	5.2	-0.151	0.13411	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	-30.8509	1.2999	0.02077	0.2252:0.2097:0.3881:0.177	.	.	.	.	F	146	.	.	S	-	2	0	SEC22C	42572464	0.097000	0.21791	0.992000	0.48379	0.966000	0.64601	0.148000	0.16224	0.027000	0.15297	0.650000	0.86243	TCT		0.383	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		22	28	0	0	0	1	0	22	28					A	42597460	G	A	42597460	2	1	177	1	0	0	0	0	0	0	0	1	13990	933	33	2		2	SEC22C	3	42597460	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		42597460	155424970	2	3087											
CRIPAK	285464	broad.mit.edu	37	4	1389234	1389234	+	Missense_Mutation	SNP	G	G	A	rs550271289		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr4:1389234G>A	ENST00000324803.4	+	1	3895	c.935G>A	c.(934-936)tGc>tAc	p.C312Y		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	312					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACGTGCC	0.667													-|||	1	0.000199681	0	0	5008	,	,		13722	0		0	False		,,,				2504	0.001					uc003gdf.2																			1	Deletion - Frameshift(1)	p.P310fs*95(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(934-936)tGc>tAc		Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.							161	164	163					4																	1389234		2202	4300	6502	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389234G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.935G>A	4.37:g.1389234G>A	ENSP00000323978:p.Cys312Tyr		Somatic					p.C312Y	NM_175918	NP_787114	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		0	3895	+			312					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.935G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	7.541	0.660768	0.14645	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.18502	2.21	0.815	-1.49	0.08718	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.14023	0.01	T	0.34129	-0.9841	9	0.39692	T	0.17	.	4.2763	0.10811	0.7492:0.0:0.2508:0.0	.	312	Q8N1N5	CRPAK_HUMAN	Y	312;254	ENSP00000323978:C312Y	ENSP00000323978:C312Y	C	+	2	0	CRIPAK	1379234	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	-0.358000	0.07641	-0.204000	0.10235	-0.506000	0.04501	TGC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	428	0	0	0	1	0	8	428					A	1389234	G	A	1389234	3	1	177	1	0	0	0	0	1	0	0	0	3877	1319	46	2	937	2	CRIPAK	4	1389234	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		1389234	189765042	3	3088											
SENP6	26054	broad.mit.edu	37	6	76385768	76385768	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr6:76385768C>G	ENST00000447266.2	+	13	2097	c.1619C>G	c.(1618-1620)aCa>aGa	p.T540R	SENP6_ENST00000370014.3_Missense_Mutation_p.T540R|SENP6_ENST00000327284.8_Missense_Mutation_p.T533R|SENP6_ENST00000541192.1_Missense_Mutation_p.T136R|SENP6_ENST00000370010.2_Missense_Mutation_p.T533R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	540					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAATTAACAAGTAAGTTG	0.303																																						uc003pid.4																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1618-1620)aCa>aGa		Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.							47	42	43					6																	76385768		1801	4060	5861	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76385768C>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1619C>G	6.37:g.76385768C>G	ENSP00000402527:p.Thr540Arg		Somatic				SENP6_uc003pie.4_Missense_Mutation_p.T533R|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.T533R|SENP6_uc003pif.1_Missense_Mutation_p.T431R	p.T540R	NM_015571	NP_056386	WXS	Illumina GAIIx	Phase_I	Q9GZR1	SENP6_HUMAN			12	2238	+		all_hematologic(105;0.189)	540					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1619C>G	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702980	0.30232	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.32753	2.69;2.69;1.44;2.69;1.45;1.49	4.35	2.48	0.30137	.	0.621168	0.16117	N	0.228830	T	0.08447	0.0210	L	0.44542	1.39	0.28300	N	0.923144	B;B;B	0.15473	0.004;0.003;0.013	B;B;B	0.17433	0.004;0.003;0.018	T	0.22836	-1.0205	10	0.23302	T	0.38	-6.8862	4.5962	0.12330	0.2195:0.6681:0.0:0.1124	.	533;540;533	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	R	533;540;533;540;430;136	ENSP00000359027:T533R;ENSP00000359031:T540R;ENSP00000321820:T533R;ENSP00000402527:T540R;ENSP00000391426:T430R;ENSP00000441715:T136R	ENSP00000321820:T533R	T	+	2	0	SENP6	76442488	0.998000	0.40836	0.987000	0.45799	0.877000	0.50540	0.556000	0.23438	1.131000	0.42111	0.650000	0.86243	ACA		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		9	26	0	0	0	1	0	9	26					G	76385768	C	G	76385768	3	3	177	1	0	0	0	0	1	0	0	0	14050	478	17	4	1669	4	SENP6	6	76385768	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		76385768	94729299	4	3089											
LAMB1	3912	broad.mit.edu	37	7	107594163	107594163	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:107594163C>T	ENST00000222399.6	-	22	3121	c.2891G>A	c.(2890-2892)gGc>gAc	p.G964D	LAMB1_ENST00000393561.1_Missense_Mutation_p.G988D	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	964	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGATGGATTGCCAAAGTATCC	0.502																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2962-2964)gGc>gAc		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						120	105	110					7																	107594163		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107594163C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2891G>A	7.37:g.107594163C>T	ENSP00000222399:p.Gly964Asp		Somatic				LAMB1_uc003vew.2_Missense_Mutation_p.G964D	p.G988D	NM_002291	NP_002282	WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			19	3124	-			964			Laminin EGF-like 10.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2963G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908323	0.92107	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.66099	-0.19;-0.19	5.01	5.01	0.66863	EGF-like, laminin (4);	.	.	.	.	D	0.86678	0.5990	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90898	0.4766	9	0.87932	D	0	.	18.8729	0.92324	0.0:1.0:0.0:0.0	.	964;988	P07942;G3XAI2	LAMB1_HUMAN;.	D	988;964	ENSP00000377191:G988D;ENSP00000222399:G964D	ENSP00000222399:G964D	G	-	2	0	LAMB1	107381399	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.651000	0.83577	2.763000	0.94921	0.650000	0.86243	GGC		0.502	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	119	0	0	0	1	0	8	119					T	107594163	C	T	107594163	3	4	177	1	0	0	0	0	1	0	0	0	8610	739	26	2	2521	2	LAMB1	7	107594163	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		107594163	51544500	5	3090											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	68	0	0	0	1	0	33	68					T	140453136	A	T	140453136	3	4	177	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GQ-01A-11D-A202-08	32858973	140453136	18685527	6	3091											
DNAJC1	64215	broad.mit.edu	37	10	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	rs199787384		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:22048118C>T	ENST00000376980.3	-	11	1867	c.1577G>A	c.(1576-1578)tGt>tAt	p.C526Y	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	526	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			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)				GGACGGGACACATCTGGCTAT	0.547																																						uc001irc.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1576-1578)tGt>tAt		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.							137	138	138					10																	22048118		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.chr10:22048118C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1577G>A	10.37:g.22048118C>T	ENSP00000366179:p.Cys526Tyr		Somatic					p.C526Y	NM_022365	NP_071760	WXS	Illumina GAIIx	Phase_I	Q96KC8	DNJC1_HUMAN			10	1864	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	526			SANT 2.		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1577G>A	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166663	0.38217	.	.	ENSG00000136770	ENST00000376980	T	0.39997	1.05	5.94	5.94	0.96194	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.115149	0.64402	D	0.000010	T	0.53658	0.1810	L	0.42529	1.33	0.80722	D	1	D;P	0.56746	0.977;0.852	P;P	0.59171	0.853;0.469	T	0.52902	-0.8513	10	0.87932	D	0	-4.244	15.9136	0.79491	0.1358:0.8642:0.0:0.0	.	247;526	Q96NY3;Q96KC8	.;DNJC1_HUMAN	Y	526	ENSP00000366179:C526Y	ENSP00000366179:C526Y	C	-	2	0	DNAJC1	22088124	1.000000	0.71417	0.977000	0.42913	0.056000	0.15407	4.684000	0.61686	2.826000	0.97356	0.561000	0.74099	TGT		0.547	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		85	137	0	0	0	1	0	85	137					T	22048118	C	T	22048118	3	4	177	1	0	0	0	0	1	0	0	0	4628	478	17	2	95	2	DNAJC1	10	22048118	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		22048118	113486629	7	3092											
ADAM8	101	broad.mit.edu	37	10	135084771	135084771	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr10:135084771T>C	ENST00000445355.3	-	13	1357	c.1307A>G	c.(1306-1308)aAc>aGc	p.N436S	ADAM8_ENST00000415217.3_Missense_Mutation_p.N436S|ADAM8_ENST00000485491.2_Missense_Mutation_p.N397S|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	436	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GGTGGTAGAGTTGCAGCAGCG	0.706																																						uc021qbe.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1306-1308)aAc>aGc		Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.							26	27	27					10																	135084771		2188	4292	6480	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135084771T>C	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1307A>G	10.37:g.135084771T>C	ENSP00000453302:p.Asn436Ser		Somatic				ADAM8_uc009ybi.3_Missense_Mutation_p.N436S|ADAM8_uc010qva.2_Missense_Mutation_p.N397S	p.N436S	NM_001109	NP_001100	WXS	Illumina GAIIx	Phase_I	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	12	1393	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	397					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1307A>G	CCDS31319.2																																																																																				0.706	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		12	18	0	0	0	1	0	12	18					C	135084771	T	C	135084771	3	2	177	1	0	0	0	0	1	0	0	0	252	1725	60	3	1129	3	ADAM8	10	135084771	Missense_Mutation	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	113036653	135084771	449976	8	3093											
SERPINH1	871	broad.mit.edu	37	11	75277986	75277986	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr11:75277986G>A	ENST00000524558.1	+	2	2027	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SERPINH1_ENST00000530284.1_Missense_Mutation_p.A198T|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A198T|SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A198T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	198					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CACGGACGGCGCCCTGCTAGT	0.657																																						uc001owr.3																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(592-594)Gcc>Acc		Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.							30	29	29					11																	75277986		2196	4286	6482	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277986G>A	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.592G>A	11.37:g.75277986G>A	ENSP00000434412:p.Ala198Thr		Somatic				SERPINH1_uc009yuf.3_Missense_Mutation_p.A198T|SERPINH1_uc009yug.3_Missense_Mutation_p.A198T|SERPINH1_uc001ows.3_Missense_Mutation_p.A198T|SERPINH1_uc001owt.3_5'Flank	p.A198T	NM_001235	NP_001226	WXS	Illumina GAIIx	Phase_I	P50454	SERPH_HUMAN			1	890	+	Ovarian(111;0.11)		198					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.592G>A	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349727	0.82132	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526397;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525611;ENST00000528760	D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.66	4.66	0.58398	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.977;0.979	D	0.92557	0.6055	10	0.72032	D	0.01	.	15.0624	0.71964	0.0:0.0:1.0:0.0	.	198;198	E9PPV6;P50454	.;SERPH_HUMAN	T	198;198;198;177;198;198;198;198;198	ENSP00000434657:A198T;ENSP00000350894:A198T;ENSP00000434964:A198T;ENSP00000436305:A198T;ENSP00000436040:A198T;ENSP00000434412:A198T;ENSP00000435452:A198T;ENSP00000437108:A198T	ENSP00000350894:A198T	A	+	1	0	SERPINH1	74955634	1.000000	0.71417	0.709000	0.30452	0.758000	0.43043	7.826000	0.86716	2.140000	0.66376	0.563000	0.77884	GCC		0.657	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		29	45	0	0	0	1	0	29	45					A	75277986	G	A	75277986	3	1	177	1	0	0	0	0	1	0	0	0	14117	1087	38	1	594	1	SERPINH1	11	75277986	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		75277986	59728530	9	3094											
CCDC88C	440193	broad.mit.edu	37	14	91770293	91770293	+	Silent	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr14:91770293G>A	ENST00000389857.6	-	20	3473	c.3387C>T	c.(3385-3387)agC>agT	p.S1129S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1129					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.S1129S(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAGCGCTGCGCTCTGGGAAC	0.657																																						uc010aty.3																			1	Substitution - coding silent(1)	p.S1129S(1)	large_intestine(1)	central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3385-3387)agC>agT		Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.							52	59	56					14																	91770293		2133	4251	6384	SO:0001819	synonymous_variant	440193				Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association	g.chr14:91770293G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3387C>T	14.37:g.91770293G>A			Somatic					p.S1129S	NM_001080414	NP_001073883	WXS	Illumina GAIIx	Phase_I	Q9P219	DAPLE_HUMAN			19	3541	-		all_cancers(154;0.0468)	1129					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.3387C>T	CCDS45151.1																																																																																				0.657	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		40	56	0	0	0	1	0	40	56					A	91770293	G	A	91770293	2	1	177	1	0	0	0	0	0	0	0	1	2865	1078	38	1		1	CCDC88C	14	91770293	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		91770293	15579247	10	3095											
GRIN2A	2903	broad.mit.edu	37	16	9923438	9923438	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr16:9923438C>A	ENST00000396573.2	-	10	2158	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V617L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V460L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V617L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V617L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V617L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	617					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)	TGGACAGGCACGGAGTTATTG	0.488																																						uc002czo.4																			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.(1849-1851)Gtg>Ttg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 1, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						100	88	92					16																	9923438		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9923438C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1849G>T	16.37:g.9923438C>A	ENSP00000379818:p.Val617Leu		Somatic				GRIN2A_uc010uym.2_Missense_Mutation_p.V617L|GRIN2A_uc010uyn.2_Missense_Mutation_p.V460L|GRIN2A_uc002czr.4_Missense_Mutation_p.V617L	p.V617L	NM_001134407	NP_001127879	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			8	2397	-			617					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1849G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053032	0.93793	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	M	0.64567	1.98	0.80722	D	1	D;D;D	0.69078	0.986;0.989;0.997	D;D;D	0.80764	0.932;0.941;0.994	T	0.69476	-0.5135	9	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	460;617;617	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	617;617;460;617;617	ENSP00000379818:V617L;ENSP00000385872:V617L;ENSP00000441572:V460L;ENSP00000332549:V617L;ENSP00000379820:V617L	.	V	-	1	0	GRIN2A	9830939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	GTG		0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			32	59	0	0	0	1	0	32	59					A	9923438	C	A	9923438	3	1	177	1	0	0	0	0	1	0	0	0	6779	536	19	4	2565	4	GRIN2A	16	9923438	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		9923438	80431315	11	3096											
VTN	7448	broad.mit.edu	37	17	26696674	26696674	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:26696674C>G	ENST00000226218.4	-	3	1001	c.383G>C	c.(382-384)gGc>gCc	p.G128A	CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	128					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	CTTAGAGGCGCCCACCTCAGG	0.627																																						uc002hbc.3																			0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(382-384)gGc>gCc		Homo sapiens vitronectin (VTN), mRNA.	Urokinase(DB00013)						30	31	30					17																	26696674		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696674C>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.383G>C	17.37:g.26696674C>G	ENSP00000226218:p.Gly128Ala		Somatic				TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	p.G128A	NM_000638	NP_000629	WXS	Illumina GAIIx	Phase_I	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	532	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		128					B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.383G>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	2.814	-0.246307	0.05906	.	.	ENSG00000255604	ENST00000226218	T	0.03920	3.76	5.06	-10.1	0.00402	.	6.819190	0.00927	N	0.002665	T	0.02571	0.0078	N	0.22421	0.69	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.28776	-1.0033	10	0.09590	T	0.72	5.0E-4	7.3288	0.26571	0.0837:0.2305:0.0829:0.603	.	128	P04004	VTNC_HUMAN	A	128	ENSP00000226218:G128A	ENSP00000226218:G128A	G	-	2	0	AC002094.1	23720801	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.336000	0.07863	-2.335000	0.00629	-0.466000	0.05196	GGC		0.627	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		21	34	0	0	0	1	0	21	34					G	26696674	C	G	26696674	3	3	177	1	0	0	0	0	1	0	0	0	17234	739	26	4	1077	4	VTN	17	26696674	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08		26696674	54498536	12	3097											
KRTAP9-3	83900	broad.mit.edu	37	17	39388991	39388991	+	Missense_Mutation	SNP	T	T	G	rs371187451		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:39388991T>G	ENST00000411528.2	+	1	277	c.238T>G	c.(238-240)Tgc>Ggc	p.C80G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	80	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)			TAGCACACCCTGCTGCCAGCC	0.587																																						uc021txg.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(238-240)Tgc>Ggc		Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA.							86	88	87					17																	39388991		2095	4300	6395	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39388991T>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.238T>G	17.37:g.39388991T>G	ENSP00000392189:p.Cys80Gly		Somatic					p.C80G	NM_031962	NP_114168	WXS	Illumina GAIIx	Phase_I	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		0	277	+		Breast(137;0.000496)	80			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.238T>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.926868	0.52759	.	.	ENSG00000204873	ENST00000411528	T	0.03663	3.85	1.8	0.609	0.17575	.	.	.	.	.	T	0.08935	0.0221	M	0.75264	2.295	0.35283	D	0.781541	.	.	.	.	.	.	T	0.17228	-1.0376	7	0.56958	D	0.05	.	5.267	0.15605	0.2563:0.0:0.0:0.7437	.	.	.	.	G	80	ENSP00000392189:C80G	ENSP00000392189:C80G	C	+	1	0	KRTAP9-3	36642517	0.930000	0.31532	0.697000	0.30258	0.888000	0.51559	1.378000	0.34328	0.157000	0.19338	0.321000	0.21382	TGC		0.587	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			46	61	0	0	0	1	0	46	61					G	39388991	T	G	39388991	3	3	177	1	0	0	0	0	1	0	0	0	8574	1580	55	5	240	5	KRTAP9-3	17	39388991	Missense_Mutation	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	12692317	39388991	41806219	13	3098											
RNFT1	51136	broad.mit.edu	37	17	58034708	58034708	+	Silent	SNP	T	T	C			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr17:58034708T>C	ENST00000305783.8	-	6	937	c.882A>G	c.(880-882)caA>caG	p.Q294Q	RNFT1_ENST00000442346.2_3'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	294						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TTCGGTAGTATTGACACAATT	0.368																																						uc002iya.3																			0				large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(880-882)caA>caG		Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA.							76	67	70					17																	58034708		1833	4089	5922	SO:0001819	synonymous_variant	51136					integral to membrane	zinc ion binding	g.chr17:58034708T>C	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"RING-type (C3HC4) zinc fingers"	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.882A>G	17.37:g.58034708T>C			Somatic				RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Silent_p.Q32Q	p.Q294Q	NM_016125	NP_057209	WXS	Illumina GAIIx	Phase_I	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		5	975	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		294					Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	ENST00000305783.8	37	c.882A>G	CCDS11622.2																																																																																				0.368	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		37	42	0	0	0	1	0	37	42					C	58034708	T	C	58034708	2	2	177	1	0	0	0	0	0	0	0	1	13501	1490	52	3		3	RNFT1	17	58034708	Silent	SNP	T	TCGA-EL-A3GQ-01A-11D-A202-08	18645717	58034708	23160502	14	3099											
DDX39	10212	broad.mit.edu	37	19	14523412	14523412	+	Missense_Mutation	SNP	G	G	A	rs374281705		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:14523412G>A	ENST00000242776.4	-	3	388	c.287C>T	c.(286-288)gCg>gTg	p.A96V	DDX39A_ENST00000592927.1_5'Flank|DDX39A_ENST00000454233.2_Missense_Mutation_p.A96V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	96	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CACGAAGACCGCTGTCTTGCC	0.642																																						uc010xnp.2																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(286-288)gCg>gTg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	87	65	73		287	3.7	0.0	19		73	0,8600		0,0,4300	no	missense	DDX39A	NM_005804.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	96/428	14523412	1,13005	2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14523412G>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.287C>T	19.37:g.14523412G>A	ENSP00000242776:p.Ala96Val		Somatic				DDX39A_uc002myo.3_Missense_Mutation_p.A96V|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.A96V	p.A96V	NM_005804	NP_005795	WXS	Illumina GAIIx	Phase_I	O00148	DX39A_HUMAN			3	498	-			96			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.287C>T	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758792	0.69763	2.27E-4	0.0	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.39592	1.07;1.07;1.07	4.75	3.72	0.42706	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63877	0.919;0.836	T	0.64241	-0.6454	10	0.87932	D	0	-25.0003	10.6783	0.45799	0.095:0.0:0.905:0.0	.	96;96	B1Q2N1;O00148	.;DX39A_HUMAN	V	139;96;96;96	ENSP00000242776:A96V;ENSP00000322749:A96V;ENSP00000392929:A96V	ENSP00000242776:A96V	A	-	2	0	DDX39A	14384412	1.000000	0.71417	0.013000	0.15412	0.606000	0.37113	8.991000	0.93514	0.996000	0.38943	0.491000	0.48974	GCG		0.642	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		13	53	0	0	0	1	0	13	53					A	14523412	G	A	14523412	3	1	177	1	0	0	0	0	1	0	0	0	4357	1087	38	1	1032	1	DDX39	19	14523412	Missense_Mutation	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		14523412	44605571	15	3100											
SLC5A5	6528	broad.mit.edu	37	19	18001785	18001785	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr19:18001785C>G	ENST00000222248.3	+	14	2089	c.1742C>G	c.(1741-1743)gCc>gGc	p.A581G		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	581					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAAGAAGTGGCCATCCTGGAT	0.612																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.4																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1741-1743)gCc>gGc		Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.							105	95	98					19																	18001785		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001785C>G		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1742C>G	19.37:g.18001785C>G	ENSP00000222248:p.Ala581Gly		Somatic					p.A581G	NM_000453	NP_000444	WXS	Illumina GAIIx	Phase_I	Q92911	SC5A5_HUMAN			13	2089	+			581					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1742C>G	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625030	0.28889	.	.	ENSG00000105641	ENST00000222248	D	0.86030	-2.06	4.71	2.38	0.29361	.	1.312490	0.05104	N	0.487796	T	0.75102	0.3804	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.57866	-0.7737	10	0.21014	T	0.42	.	2.194	0.03906	0.2057:0.4827:0.1989:0.1127	.	581	Q92911	SC5A5_HUMAN	G	581	ENSP00000222248:A581G	ENSP00000222248:A581G	A	+	2	0	SLC5A5	17862785	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	-0.121000	0.10643	1.157000	0.42530	0.491000	0.48974	GCC		0.612	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			52	84	0	0	0	1	0	52	84					G	18001785	C	G	18001785	3	3	177	1	0	0	0	0	1	0	0	0	14668	739	26	4	1796	4	SLC5A5	19	18001785	Missense_Mutation	SNP	C	TCGA-EL-A3GQ-01A-11D-A202-08	3478373	18001785	41127198	16	3101											
MICAL3	57553	broad.mit.edu	37	22	18314678	18314679	+	In_Frame_Ins	INS	-	-	TCC	rs374621205|rs377466404|rs374869878		TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chr22:18314678_18314679insTCC	ENST00000441493.2	-	21	3348_3349	c.2996_2997insGGA	c.(2995-2997)gaa>gaGGAa	p.999_999E>EE		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	999	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		cttcatattcttcctcctcctc	0.55																																						uc002zng.4																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2995-2997)gaa>gaGGAa		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18314678_18314679insTCC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2994_2996dupGGA	22.37:g.18314685_18314687dupTCC	ENSP00000416015:p.Glu1000dup		Somatic				MICAL3_uc011agl.2_In_Frame_Ins_p.999_999E>EE	p.999_999E>EE	NM_015241	NP_056056	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	20	3349_3350	-		all_epithelial(15;0.198)	999			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Ins	INS	ENST00000441493.2	37	c.2996_2997insGGA	CCDS46659.1																																																																																				0.55	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			6	2						6	2	---	---	---	---	TCC	18314679	-	TCC	18314678	7	5	177	1	0	1	1	0	0	0	0	0	9571	1606	56	0	3059	0	MICAL3	22	18314678	In_Frame_Ins	INS	-	TCGA-EL-A3GQ-01A-11D-A202-08		18314678	32989888	17	3102											
GPR174	84636	broad.mit.edu	37	X	78426795	78426795	+	Silent	SNP	G	G	A			TCGA-EL-A3GQ-01A-11D-A202-08	TCGA-EL-A3GQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	756b3616-68fa-4613-bbb9-f4335ee01653	54c111f2-4fcc-40a5-88d6-20c229784f90	g.chrX:78426795G>A	ENST00000276077.1	+	1	327	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTTTCTACCTGAAGTATGTCA	0.448										HNSCC(63;0.18)																												uc004edg.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(289-291)ctG>ctA		Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.							152	127	136					X																	78426795		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426795G>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.291G>A	X.37:g.78426795G>A		HNSCC(63;0.18)	Somatic					p.L97L	NM_032553	NP_115942	WXS	Illumina GAIIx	Phase_I	Q9BXC1	GP174_HUMAN			0	327	+			97					Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.291G>A	CCDS14443.1																																																																																				0.448	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		48	71	0	0	0	1	0	48	71					A	78426795	G	A	78426795	2	1	177	1	0	0	0	0	0	0	0	1	6672	1277	45	2		2	GPR174	23	78426795	Silent	SNP	G	TCGA-EL-A3GQ-01A-11D-A202-08		78426795	76843765	18	3103											
SPTA1	6708	broad.mit.edu	37	1	158582606	158582606	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr1:158582606C>T	ENST00000368147.4	-	51	7315		c.e51+1		SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						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)					CAGAATCGGACCTGCTTCATG	0.458																																						uc001fst.1																			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.e51+1		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							132	130	131					1																	158582606		1933	4128	6061	SO:0001630	splice_region_variant	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.chr1:158582606C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7134+1G>A	1.37:g.158582606C>T			Somatic					p.Q2378_splice	NM_003126	NP_003117	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			51	7333	-	all_hematologic(112;0.0378)		2378			EF-hand 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.7134_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761321	0.69763	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.09	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6657	0.56842	0.0:0.9195:0.0:0.0805	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156849230	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	5.216000	0.65246	1.508000	0.48769	0.655000	0.94253	.		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	5	100	0	0	0	1	0	5	100					T	158582606	C	T	158582606	5	4	178	1	0	0	0	0	0	0	1	0	15115	521	18	2	132	2	SPTA1	1	158582606	Splice_Site	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		158582606	90668015	1	3104											
STAG1	10274	broad.mit.edu	37	3	136162169	136162169	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:136162169C>G	ENST00000383202.2	-	15	1762	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	STAG1_ENST00000536929.1_Missense_Mutation_p.M86I|STAG1_ENST00000434713.2_Missense_Mutation_p.M276I|STAG1_ENST00000236698.5_Missense_Mutation_p.M502I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	502					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						GCAACTCTGTCATACATTCCC	0.358																																						uc003era.1																			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.(1504-1506)atG>atC		Homo sapiens stromal antigen 1 (STAG1), mRNA.							140	133	135					3																	136162169		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136162169C>G	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1506G>C	3.37:g.136162169C>G	ENSP00000372689:p.Met502Ile		Somatic				STAG1_uc003erb.1_Missense_Mutation_p.M502I|STAG1_uc003erc.1_Missense_Mutation_p.M276I|STAG1_uc010hua.1_Missense_Mutation_p.M365I	p.M502I	NM_005862	NP_005853	WXS	Illumina GAIIx	Phase_I	Q8WVM7	STAG1_HUMAN			14	1798	-			502					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.1506G>C	CCDS3090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488922|4.488922	0.84962|0.84962	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929|ENST00000492318	T;T;T;T|.	0.38077|.	1.7;1.72;1.83;1.16|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82866|.	0.5130|.	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	P;B;P|.	0.48089|.	0.905;0.382;0.843|.	P;B;P|.	0.52598|.	0.703;0.146;0.613|.	T|.	0.82916|.	-0.0220|.	10|.	0.30078|.	T|.	0.28|.	.|.	20.1133|20.1133	0.97917|0.97917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	519;502;502|.	Q4LE48;Q6P275;Q8WVM7|.	.;.;STAG1_HUMAN|.	I|S	502;502;276;86|113	ENSP00000372689:M502I;ENSP00000236698:M502I;ENSP00000404396:M276I;ENSP00000445787:M86I|.	ENSP00000236698:M502I|.	M|X	-|-	3|2	0|2	STAG1|STAG1	137644859|137644859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	ATG|TGA		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		7	95	0	0	0	1	0	7	95					G	136162169	C	G	136162169	3	3	178	1	0	0	0	0	1	0	0	0	15241	826	29	4	2350	4	STAG1	3	136162169	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		136162169	61860261	2	3105											
THPO	7066	broad.mit.edu	37	3	184093689	184093689	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:184093689A>C	ENST00000204615.7	-	3	342	c.128T>G	c.(127-129)cTt>cGt	p.L43R	THPO_ENST00000421442.2_Missense_Mutation_p.L43R|THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.L43R|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	43					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCTGTGAAGGACATGGGA	0.527																																						uc003fol.1																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(127-129)cTt>cGt		Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.							119	115	116					3																	184093689		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184093689A>C		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.128T>G	3.37:g.184093689A>C	ENSP00000204615:p.Leu43Arg		Somatic				THPO_uc003fom.2_Missense_Mutation_p.L43R|THPO_uc021xii.1_Missense_Mutation_p.L43R|THPO_uc003fon.3_Missense_Mutation_p.L43R|THPO_uc011bro.2_Missense_Mutation_p.L43R|THPO_uc003fop.3_Missense_Mutation_p.L43R|THPO_uc011brp.2_Missense_Mutation_p.L43R|THPO_uc011brq.2_Missense_Mutation_p.L43R|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.L43R|THPO_uc003fou.1_Missense_Mutation_p.L43R	p.L43R	NM_000460	NP_000451	WXS	Illumina GAIIx	Phase_I	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	343	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		43					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.128T>G	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342173	0.61073	.	.	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000421442;ENST00000353488	T;T;T	0.51574	0.7;0.7;0.7	3.86	3.86	0.44501	Erythropoietin/thrombopoeitin, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.36482	N	0.002577	T	0.52058	0.1711	L	0.27053	0.805	0.40202	D	0.977528	D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.997;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.996;0.995;0.991;0.996;0.998	T	0.56353	-0.7993	10	0.72032	D	0.01	-27.0972	9.237	0.37473	1.0:0.0:0.0:0.0	.	43;43;43;43;43;43	Q5FBX4;P40225-3;Q5FBX8;F8W6L1;P40225-2;P40225	.;.;.;.;.;TPO_HUMAN	R	43	ENSP00000204615:L43R;ENSP00000410763:L43R;ENSP00000411704:L43R	ENSP00000204615:L43R	L	-	2	0	THPO	185576383	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	4.188000	0.58351	1.752000	0.51891	0.383000	0.25322	CTT		0.527	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		36	91	0	0	0	1	0	36	91					C	184093689	A	C	184093689	3	2	178	1	0	0	0	0	1	0	0	0	15869	72	3	5	949	5	THPO	3	184093689	Missense_Mutation	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08	47931520	184093689	13928741	3	3106											
CLCN3	1182	broad.mit.edu	37	4	170641066	170641066	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr4:170641066T>C	ENST00000513761.1	+	13	2934	c.2375T>C	c.(2374-2376)cTt>cCt	p.L792P	CLCN3_ENST00000347613.4_Silent_p.P817P|CLCN3_ENST00000504131.2_Missense_Mutation_p.L775P|CLCN3_ENST00000360642.3_Missense_Mutation_p.L765P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	792	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGGCGCCTCCTTGGCATTATA	0.398																																						uc003isi.3																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(2374-2376)cTt>cCt		Homo sapiens chloride channel 3 (CLCN3), transcript variant b, mRNA.							42	45	44					4																	170641066		2196	4299	6495	SO:0001583	missense	1182				endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170641066T>C	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2375T>C	4.37:g.170641066T>C	ENSP00000424603:p.Leu792Pro		Somatic				CLCN3_uc003ish.3_Silent_p.P817P|CLCN3_uc011cka.2_Missense_Mutation_p.L765P|CLCN3_uc011cjz.2_Missense_Mutation_p.L775P|CLCN3_uc003isj.2_Missense_Mutation_p.L765P	p.L792P	NM_001829	NP_001820	WXS	Illumina GAIIx	Phase_I	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	12	2934	+		Prostate(90;0.00601)|Renal(120;0.0183)	792			CBS 2.		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.2375T>C	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740737	0.69304	.	.	ENSG00000109572	ENST00000513761;ENST00000360642;ENST00000504131	D;D;D	0.94537	-3.45;-3.45;-3.45	5.52	5.52	0.82312	Cystathionine beta-synthase, core (3);	.	.	.	.	D	0.97087	0.9048	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.991	D	0.97250	0.9897	7	.	.	.	-6.6465	15.6299	0.76899	0.0:0.0:0.0:1.0	.	765;775;792	B7Z932;B9EGJ9;P51790	.;.;CLCN3_HUMAN	P	792;765;775	ENSP00000424603:L792P;ENSP00000353857:L765P;ENSP00000424540:L775P	.	L	+	2	0	CLCN3	170877641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.086000	0.62901	0.533000	0.62120	CTT		0.398	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			5	59	0	0	0	1	0	5	59					C	170641066	T	C	170641066	3	2	178	1	0	0	0	0	1	0	0	0	3464	1609	56	3	2501	3	CLCN3	4	170641066	Missense_Mutation	SNP	T	TCGA-EL-A3GR-01A-21D-A202-08		170641066	20513210	4	3107											
NUDT12	83594	broad.mit.edu	37	5	102895751	102895751	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:102895751C>G	ENST00000230792.2	-	2	295	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	67					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACCCTTTCTCAAGCAGAAAT	0.363																																						uc003koi.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(199-201)Gag>Cag		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.							108	103	104					5																	102895751		2202	4300	6502	SO:0001583	missense	83594					nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding	g.chr5:102895751C>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"Nudix motif containing", "Ankyrin repeat domain containing"	18826	protein-coding gene	gene with protein product	"nucleoside diphosphate linked moiety X-type motif 12"	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.199G>C	5.37:g.102895751C>G	ENSP00000230792:p.Glu67Gln		Somatic				NUDT12_uc011cvb.2_Intron|NUDT12_uc010jbq.1_Missense_Mutation_p.E67Q	p.E67Q	NM_031438	NP_113626	WXS	Illumina GAIIx	Phase_I	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	1	292	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	67					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.199G>C	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676933	0.47886	.	.	ENSG00000112874	ENST00000230792	T	0.67345	-0.26	5.9	5.9	0.94986	Ankyrin repeat-containing domain (4);	0.278431	0.39210	N	0.001440	T	0.54062	0.1835	N	0.16368	0.405	0.80722	D	1	B	0.24920	0.114	B	0.26416	0.069	T	0.49753	-0.8906	10	0.38643	T	0.18	-4.2576	17.1924	0.86883	0.0:0.8744:0.1256:0.0	.	67	Q9BQG2	NUD12_HUMAN	Q	67	ENSP00000230792:E67Q	ENSP00000230792:E67Q	E	-	1	0	NUDT12	102923650	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.749000	0.55150	2.788000	0.95919	0.650000	0.86243	GAG		0.363	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		45	94	0	0	0	1	0	45	94					G	102895751	C	G	102895751	3	3	178	1	0	0	0	0	1	0	0	0	10728	835	29	4	1213	4	NUDT12	5	102895751	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		102895751	78019509	5	3108											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	84	0	0	0	1	0	37	84					T	140453136	A	T	140453136	3	4	178	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08		140453136	18685527	6	3109											
ARC	23237	broad.mit.edu	37	8	143695032	143695032	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr8:143695032C>T	ENST00000356613.2	-	1	1801	c.601G>A	c.(601-603)Gag>Aag	p.E201K	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCGTCCTCGCCGGGGACC	0.726																																						uc003ywn.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(601-603)Gag>Aag		Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.							13	15	14					8																	143695032		2175	4266	6441	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143695032C>T	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.601G>A	8.37:g.143695032C>T	ENSP00000349022:p.Glu201Lys		Somatic				ARC_uc022bca.1_Missense_Mutation_p.E201K	p.E201K	NM_015193	NP_056008	WXS	Illumina GAIIx	Phase_I	Q7LC44	ARC_HUMAN			0	802	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	201			Required for binding DNM2 (By similarity).		B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.601G>A	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114641	0.37339	.	.	ENSG00000198576	ENST00000356613	T	0.35605	1.3	4.56	4.56	0.56223	.	0.125935	0.35585	U	0.003117	T	0.20618	0.0496	N	0.19112	0.55	0.30131	N	0.804773	B	0.32071	0.355	B	0.19148	0.024	T	0.11227	-1.0596	10	0.29301	T	0.29	.	12.2406	0.54540	0.0:0.8282:0.1718:0.0	.	201	Q7LC44	ARC_HUMAN	K	201	ENSP00000349022:E201K	ENSP00000349022:E201K	E	-	1	0	ARC	143692034	0.878000	0.30173	0.900000	0.35374	0.141000	0.21300	2.313000	0.43735	2.075000	0.62263	0.462000	0.41574	GAG		0.726	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			14	21	0	0	0	1	0	14	21					T	143695032	C	T	143695032	3	4	178	1	0	0	0	0	1	0	0	0	841	893	31	1	593	1	ARC	8	143695032	Missense_Mutation	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		143695032	2668990	7	3110											
AASDHPPT	60496	broad.mit.edu	37	11	105961348	105961348	+	Silent	SNP	A	A	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr11:105961348A>G	ENST00000278618.4	+	3	696	c.474A>G	c.(472-474)gaA>gaG	p.E158E	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	158					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AAGAATGGGAAACAATCAGAA	0.303																																						uc001pjc.1																			0		p.W157L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(472-474)gaA>gaG		Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.							103	118	113					11																	105961348		2201	4297	6498	SO:0001819	synonymous_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105961348A>G	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.474A>G	11.37:g.105961348A>G			Somatic				AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Silent_p.E11E	p.E158E	NM_015423	NP_056238	WXS	Illumina GAIIx	Phase_I	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	2	620	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	158					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	c.474A>G	CCDS31664.1																																																																																				0.303	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		3	116	0	0	0	1	0	3	116					G	105961348	A	G	105961348	2	3	178	1	0	0	0	0	0	0	0	1	23	11	1	3		3	AASDHPPT	11	105961348	Silent	SNP	A	TCGA-EL-A3GR-01A-21D-A202-08		105961348	29045168	8	3111											
C14orf135	64430	broad.mit.edu	37	14	60581721	60581721	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr14:60581721G>C	ENST00000406854.1	+	4	1453	c.899G>C	c.(898-900)gGa>gCa	p.G300A	PCNXL4_ENST00000404681.2_Missense_Mutation_p.G300A|PCNXL4_ENST00000317623.4_Missense_Mutation_p.G66A|PCNXL4_ENST00000406949.1_Missense_Mutation_p.G66A			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	300						integral component of membrane (GO:0016021)											ATGTCTGCTGGAACAGCTATA	0.308																																						uc001xer.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18						c.(196-198)gGa>gCa		Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.							78	64	68					14																	60581721		1830	4100	5930	SO:0001583	missense	64430					integral to membrane		g.chr14:60581721G>C	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.899G>C	14.37:g.60581721G>C	ENSP00000384801:p.Gly300Ala		Somatic				C14orf135_uc001xeq.2_Missense_Mutation_p.G66A	p.G66A	NM_022495	NP_071940	WXS	Illumina GAIIx	Phase_I	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	2	719	+		Myeloproliferative disorder(585;0.163)	300					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.197G>C		.	.	.	.	.	.	.	.	.	.	G	1.293	-0.607078	0.03717	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.22743	1.96;1.97;1.94;1.97	5.08	4.17	0.49024	.	.	.	.	.	T	0.15825	0.0381	L	0.52011	1.625	0.80722	D	1	B;P	0.42409	0.386;0.779	B;B	0.35182	0.052;0.197	T	0.04481	-1.0948	9	0.05721	T	0.95	.	14.2012	0.65705	0.0:0.2853:0.7147:0.0	.	300;66	Q63HM2;B5MC47	CN135_HUMAN;.	A	66;300;66;300	ENSP00000317396:G66A;ENSP00000384801:G300A;ENSP00000385201:G66A;ENSP00000385713:G300A	ENSP00000317396:G66A	G	+	2	0	C14orf135	59651474	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.033000	0.57282	1.227000	0.43598	0.462000	0.41574	GGA		0.308	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		11	33	0	0	0	1	0	11	33					C	60581721	G	C	60581721	3	2	178	1	0	0	0	0	1	0	0	0	1745	1174	41	4	203	4	C14orf135	14	60581721	Missense_Mutation	SNP	G	TCGA-EL-A3GR-01A-21D-A202-08		60581721	46767819	9	3112											
DHX8	1659	broad.mit.edu	37	17	41577392	41577392	+	Silent	SNP	C	C	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr17:41577392C>G	ENST00000262415.3	+	11	1539	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	DHX8_ENST00000540306.1_Silent_p.L489L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	489					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCGGGAACTCAAACAGGCCC	0.532																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1465-1467)ctC>ctG		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.							174	182	179					17																	41577392		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	g.chr17:41577392C>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1467C>G	17.37:g.41577392C>G			Somatic				DHX8_uc010wif.1_Silent_p.L398L|DHX8_uc010wig.2_Silent_p.L489L	p.L489L	NM_004941	NP_004932	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	10	1539	+		Breast(137;0.00908)	489						Silent	SNP	ENST00000262415.3	37	c.1467C>G	CCDS11464.1																																																																																				0.532	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			116	194	0	0	0	1	0	116	194					G	41577392	C	G	41577392	2	3	178	1	0	0	0	0	0	0	0	1	4515	813	29	4		4	DHX8	17	41577392	Silent	SNP	C	TCGA-EL-A3GR-01A-21D-A202-08		41577392	39617818	10	3113											
ATP7A	538	broad.mit.edu	37	X	77302017	77302020	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:77302017_77302020delCACT	ENST00000341514.6	+	23	4608_4611	c.4453_4456delCACT	c.(4453-4458)cactcafs	p.HS1485fs	ATP7A_ENST00000343533.5_Frame_Shift_Del_p.HS1407fs|ATP7A_ENST00000350425.4_Frame_Shift_Del_p.HS488fs	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1485					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACCTGACAAGCACTCACTCCTGGT	0.451																																						uc004ecx.4																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4453-4458)cactcafs		Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.																																				SO:0001589	frameshift_variant	538				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77302017_77302020delCACT	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4453_4456delCACT	X.37:g.77302021_77302024delCACT	ENSP00000345728:p.His1485fs		Somatic					p.H1485fs	NM_000052	NP_000043	WXS	Illumina GAIIx	Phase_I	Q04656	ATP7A_HUMAN			22	4613_4616	+			1485					B1AT72|O00227|O00745|Q9BYY8	Frame_Shift_Del	DEL	ENST00000341514.6	37	c.4453_4456delCACT	CCDS35339.1																																																																																				0.451	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		123	272						123	272	---	---	---	---	-	77302020	CACT	-	77302017	7	5	178	1	0	1	0	1	0	0	0	0	1190	710	25	0	4539	0	ATP7A	23	77302017	Frame_Shift_Del	DEL	CACT	TCGA-EL-A3GR-01A-21D-A202-08		77302017	77968543	11	3114											
PRPS1	5631	broad.mit.edu	37	X	106885605	106885605	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:106885605G>C	ENST00000372435.4	+	4	537	c.415G>C	c.(415-417)Gat>Cat	p.D139H	PRPS1_ENST00000543248.1_Missense_Mutation_p.D139H|PRPS1_ENST00000372428.4_Missense_Mutation_p.D72H|PRPS1_ENST00000372418.1_Missense_Mutation_p.D39H	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	139					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GGGCTTTTTTGATATCCCAGT	0.418																																						uc004ene.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						c.(415-417)Gat>Cat		Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.							101	92	95					X																	106885605		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106885605G>C	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"PRS I", "ribose-phosphate diphosphokinase 1"	311850	"deafness, X-linked 2, perceptive, congenital"	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.415G>C	X.37:g.106885605G>C	ENSP00000361512:p.Asp139His		Somatic				PRPS1_uc011msj.2_Intron|PRPS1_uc010npg.3_Missense_Mutation_p.D106H	p.D139H	NM_002764	NP_002755	WXS	Illumina GAIIx	Phase_I	P60891	PRPS1_HUMAN			3	620	+			139					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.415G>C	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774331	0.49786	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-2.74	4.5	4.5	0.54988	Phosphoribosyl pyrophosphate synthetase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95730	0.8611	M	0.89353	3.025	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.58130	0.833;0.833	D	0.96368	0.9271	10	0.59425	D	0.04	.	16.0021	0.80301	0.0:0.0:1.0:0.0	.	139;139	Q53FW2;P60891	.;PRPS1_HUMAN	H	139;72;139;39	ENSP00000361512:D139H;ENSP00000361505:D72H;ENSP00000443185:D139H;ENSP00000361495:D39H	ENSP00000361495:D39H	D	+	1	0	PRPS1	106772261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.357000	0.97099	2.170000	0.68504	0.538000	0.68166	GAT		0.418	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			32	79	0	0	0	1	0	32	79					C	106885605	G	C	106885605	3	2	178	1	0	0	0	0	1	0	0	0	12578	1290	45	4	429	4	PRPS1	23	106885605	Missense_Mutation	SNP	G	TCGA-EL-A3GR-01A-21D-A202-08	29583588	106885605	48384955	12	3115											
MAST2	23139	broad.mit.edu	37	1	46498015	46498015	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:46498015T>C	ENST00000361297.2	+	25	3636	c.3353T>C	c.(3352-3354)cTg>cCg	p.L1118P	MAST2_ENST00000372009.2_Missense_Mutation_p.L1025P	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTTCACCCTGCGGGCCATT	0.577																																						uc001cov.3																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3352-3354)cTg>cCg		Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.							65	72	69					1																	46498015		2187	4298	6485	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46498015T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3353T>C	1.37:g.46498015T>C	ENSP00000354671:p.Leu1118Pro		Somatic				MAST2_uc001cow.3_Missense_Mutation_p.L1118P|MAST2_uc001cpa.3_Non-coding_Transcript	p.L1118P	NM_015112	NP_055927	WXS	Illumina GAIIx	Phase_I	Q6P0Q8	MAST2_HUMAN			24	3636	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1118			PDZ.			Missense_Mutation	SNP	ENST00000361297.2	37	c.3353T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315153	0.81358	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.54279	0.58;0.58	4.83	4.83	0.62350	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000001	T	0.71888	0.3393	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.979	T	0.76233	-0.3034	10	0.87932	D	0	-10.1661	14.8573	0.70347	0.0:0.0:0.0:1.0	.	1025;1118	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	P	1118;1025	ENSP00000354671:L1118P;ENSP00000361079:L1025P	ENSP00000354671:L1118P	L	+	2	0	MAST2	46270602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.825000	0.86693	2.153000	0.67306	0.459000	0.35465	CTG		0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	87	0	0	0	1	0	4	87					C	46498015	T	C	46498015	3	2	179	1	0	0	0	0	1	0	0	0	9325	1580	55	3	3451	3	MAST2	1	46498015	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		46498015	202752606	1	3116											
BARHL2	343472	broad.mit.edu	37	1	91182584	91182584	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr1:91182584T>C	ENST00000370445.4	-	1	210	c.169A>G	c.(169-171)Acc>Gcc	p.T57A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	57					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GTCCCTACGGTATCAATCTCC	0.607																																					GBM(199;3561 4100 22440)	uc001dns.3																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(169-171)Acc>Gcc		Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.							73	80	78					1																	91182584		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91182584T>C	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.169A>G	1.37:g.91182584T>C	ENSP00000359474:p.Thr57Ala		Somatic					p.T57A	NM_020063	NP_064447	WXS	Illumina GAIIx	Phase_I	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	0	211	-		all_lung(203;0.0263)|Lung SC(238;0.128)	57					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.169A>G	CCDS730.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665443	0.88251	.	.	ENSG00000143032	ENST00000370445	D	0.91011	-2.77	5.92	4.78	0.61160	.	0.046970	0.85682	D	0.000000	D	0.88062	0.6336	L	0.27053	0.805	0.51482	D	0.999927	D	0.58970	0.984	D	0.65443	0.935	D	0.89602	0.3835	10	0.59425	D	0.04	.	11.6037	0.51020	0.0:0.0:0.1492:0.8508	.	57	Q9NY43	BARH2_HUMAN	A	57	ENSP00000359474:T57A	ENSP00000359474:T57A	T	-	1	0	BARHL2	90955172	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	6.970000	0.76099	1.046000	0.40249	0.528000	0.53228	ACC		0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			3	106	0	0	0	1	0	3	106					C	91182584	T	C	91182584	3	2	179	1	0	0	0	0	1	0	0	0	1314	1638	57	3	1006	3	BARHL2	1	91182584	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08	44684569	91182584	158068037	2	3117											
FILIP1L	11259	broad.mit.edu	37	3	99567862	99567862	+	Silent	SNP	A	A	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr3:99567862A>G	ENST00000354552.3	-	5	3128	c.2658T>C	c.(2656-2658)ttT>ttC	p.F886F	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Silent_p.F886F|FILIP1L_ENST00000487087.1_Silent_p.F462F|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Silent_p.F646F|FILIP1L_ENST00000383694.2_Silent_p.F646F	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	886						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CAGGTTGCACAAAGTTGGCAT	0.448																																						uc003dtm.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2656-2658)ttT>ttC		Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.							186	178	181					3																	99567862		1986	4160	6146	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567862A>G		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2658T>C	3.37:g.99567862A>G			Somatic				MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.F886F|FILIP1L_uc010hpf.3_Silent_p.F462F|FILIP1L_uc010hpg.3_Silent_p.F646F|FILIP1L_uc003dtn.3_Silent_p.F646F|FILIP1L_uc021xbr.1_Silent_p.F646F|FILIP1L_uc003dtp.1_Silent_p.F646F	p.F886F	NM_182909	NP_878913	WXS	Illumina GAIIx	Phase_I	Q4L180	FIL1L_HUMAN			4	3121	-			886					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.2658T>C	CCDS43117.1																																																																																				0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		9	211	0	0	0	1	0	9	211					G	99567862	A	G	99567862	2	3	179	1	0	0	0	0	0	0	0	1	5895	127	5	3		3	FILIP1L	3	99567862	Silent	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08		99567862	98454568	3	3118											
ENPEP	2028	broad.mit.edu	37	4	111434635	111434635	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr4:111434635A>T	ENST00000265162.5	+	7	1715	c.1373A>T	c.(1372-1374)cAt>cTt	p.H458L	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	458					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ATGTCTTCGCATCCAATTATT	0.353																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1372-1374)cAt>cTt		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						187	172	177					4																	111434635		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111434635A>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1373A>T	4.37:g.111434635A>T	ENSP00000265162:p.His458Leu		Somatic					p.H458L	NM_001977	NP_001968	WXS	Illumina GAIIx	Phase_I	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	6	1715	+		Hepatocellular(203;0.217)	458					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1373A>T	CCDS3691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.940413|3.940413	0.73557|0.73557	.|.	.|.	ENSG00000250511|ENSG00000138792	ENST00000503998|ENST00000265162	.|T	.|0.03152	.|4.03	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.26774|0.26774	0.0655|0.0655	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.26503|0.26503	-1.0101|-1.0101	5|10	.|0.87932	.|D	.|0	.|.	15.5235|15.5235	0.75885|0.75885	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|458	.|Q07075	.|AMPE_HUMAN	S|L	111|458	.|ENSP00000265162:H458L	.|ENSP00000265162:H458L	C|H	-|+	1|2	0|0	RP11-380D23.1|ENPEP	111654084|111654084	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.405000|0.405000	0.30901|0.30901	8.910000|8.910000	0.92685|0.92685	2.131000|2.131000	0.65755|0.65755	0.533000|0.533000	0.62120|0.62120	TGC|CAT		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			63	75	0	0	0	1	0	63	75					T	111434635	A	T	111434635	3	4	179	1	0	0	0	0	1	0	0	0	5128	217	8	5	1399	5	ENPEP	4	111434635	Missense_Mutation	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08		111434635	79719641	4	3119											
PCDHGC4	56098	broad.mit.edu	37	5	140866043	140866043	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:140866043C>T	ENST00000306593.1	+	1	1303	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	435	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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACCCTCCTCTCAGTACCCA	0.468																																						uc003lky.2																			0		p.L434I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1303-1305)Ctc>Ttc		Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.							75	70	72					5																	140866043		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140866043C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1303C>T	5.37:g.140866043C>T	ENSP00000306918:p.Leu435Phe		Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.L435F|PCDHGC5_uc011dbc.2_5'Flank|PCDHGC5_uc003lla.2_5'Flank	p.L435F	NM_018928	NP_061751	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1303	+			434			Cadherin 4.		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1303C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372782	0.24857	.	.	ENSG00000242419	ENST00000306593	T	0.55760	0.5	5.41	2.7	0.31948	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.73644	0.3613	M	0.88512	2.96	0.32871	D	0.509276	D;D	0.89917	1.0;0.999	D;D	0.81914	0.992;0.995	T	0.79001	-0.1981	9	0.72032	D	0.01	.	10.0561	0.42246	0.0:0.7809:0.0:0.2191	.	435;435	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	F	435	ENSP00000306918:L435F	ENSP00000306918:L435F	L	+	1	0	PCDHGC4	140846227	0.409000	0.25368	0.997000	0.53966	0.276000	0.26787	1.355000	0.34068	0.277000	0.22141	-0.444000	0.05651	CTC		0.468	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		26	46	0	0	0	1	0	26	46					T	140866043	C	T	140866043	3	4	179	1	0	0	0	0	1	0	0	0	11570	913	32	2	1305	2	PCDHGC4	5	140866043	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		140866043	40049217	5	3120											
ATP6V0E1	8992	broad.mit.edu	37	5	172410879	172410879	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr5:172410879C>G	ENST00000519374.1	+	1	120	c.16C>G	c.(16-18)Ctc>Gtc	p.L6V	ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L6V|ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L6V	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	6					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTATCACGGCCTCACTGTGCC	0.612																																						uc003mcd.1																			0				lung(2)	2						c.(16-18)Ctc>Gtc		Homo sapiens ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 (ATP6V0E1), mRNA.							237	211	219					5																	172410879		2203	4300	6503	SO:0001583	missense	8992				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism	g.chr5:172410879C>G	Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"ATPases / V-type"	863	protein-coding gene	gene with protein product		603931	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD", "ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.16C>G	5.37:g.172410879C>G	ENSP00000429690:p.Leu6Val		Somatic					p.L6V	NM_003945	NP_003936	WXS	Illumina GAIIx	Phase_I	O15342	VA0E1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		0	117	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	6					B2R557|D3DQM1|Q6IBE8	Missense_Mutation	SNP	ENST00000519374.1	37	c.16C>G	CCDS4383.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463228	0.63513	.	.	ENSG00000113732	ENST00000519374;ENST00000519911;ENST00000265093;ENST00000517669	.	.	.	5.34	3.48	0.39840	.	0.116521	0.64402	D	0.000011	T	0.34077	0.0885	.	.	.	0.39599	D	0.969709	P	0.36647	0.563	B	0.32022	0.139	T	0.17623	-1.0363	8	0.33141	T	0.24	-7.8537	6.4141	0.21708	0.1481:0.7006:0.0:0.1513	.	6	O15342	VA0E1_HUMAN	V	6	.	ENSP00000265093:L6V	L	+	1	0	ATP6V0E1	172343485	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.284000	0.33249	1.478000	0.48253	0.655000	0.94253	CTC		0.612	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252935.2	NM_003945		7	256	0	0	0	1	0	7	256					G	172410879	C	G	172410879	3	3	179	1	0	0	0	0	1	0	0	0	1175	681	24	4	18	4	ATP6V0E1	5	172410879	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08	31544836	172410879	8504381	6	3121											
CDC5L	988	broad.mit.edu	37	6	44387276	44387276	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:44387276G>A	ENST00000371477.3	+	9	1482	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	395	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCTCAGGTGTAACTCCACA	0.423																																						uc003oxl.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1183-1185)Gta>Ata		Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.							164	144	151					6																	44387276		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387276G>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1183G>A	6.37:g.44387276G>A	ENSP00000360532:p.Val395Ile		Somatic					p.V395I	NM_001253	NP_001244	WXS	Illumina GAIIx	Phase_I	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	1493	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		395			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1183G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427395	0.62733	.	.	ENSG00000096401	ENST00000371477	T	0.48522	0.81	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.45581	1.43	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.06023	-1.0850	10	0.23302	T	0.38	-14.375	13.7886	0.63126	0.0734:0.0:0.9266:0.0	.	395	Q99459	CDC5L_HUMAN	I	395	ENSP00000360532:V395I	ENSP00000360532:V395I	V	+	1	0	CDC5L	44495254	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.667000	0.74451	2.609000	0.88269	0.563000	0.77884	GTA		0.423	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			4	98	0	0	0	1	0	4	98					A	44387276	G	A	44387276	3	1	179	1	0	0	0	0	1	0	0	0	3082	1377	48	2	1217	2	CDC5L	6	44387276	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		44387276	126727791	7	3122											
BMP5	653	broad.mit.edu	37	6	55739439	55739439	+	Silent	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr6:55739439G>A	ENST00000370830.3	-	1	923	c.225C>T	c.(223-225)tcC>tcT	p.S75S	BMP5_ENST00000446683.2_Silent_p.S75S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	75					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGTGCAGAGGACGCTTGTT	0.468																																						uc003pcq.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(223-225)tcC>tcT		Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.							188	171	176					6																	55739439		2203	4300	6503	SO:0001819	synonymous_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739439G>A		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.225C>T	6.37:g.55739439G>A			Somatic				BMP5_uc011dxf.2_Silent_p.S75S	p.S75S	NM_021073	NP_066551	WXS	Illumina GAIIx	Phase_I	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		0	937	-	Lung NSC(77;0.0462)		75					B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	c.225C>T	CCDS4958.1																																																																																				0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			4	123	0	0	0	1	0	4	123					A	55739439	G	A	55739439	2	1	179	1	0	0	0	0	0	0	0	1	1463	987	35	2		2	BMP5	6	55739439	Silent	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08	11352163	55739439	115375628	8	3123											
PIK3CG	5294	broad.mit.edu	37	7	106513029	106513029	+	Silent	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:106513029G>A	ENST00000359195.3	+	3	2353	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	PIK3CG_ENST00000440650.2_Silent_p.L681L|PIK3CG_ENST00000496166.1_Silent_p.L681L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	681	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCAGATTTCTGCTGAAGCGTG	0.378																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2041-2043)ctG>ctA		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							195	188	190					7																	106513029		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106513029G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2043G>A	7.37:g.106513029G>A			Somatic				PIK3CG_uc003vdu.3_Silent_p.L681L|PIK3CG_uc003vdw.3_Silent_p.L681L	p.L681L	NM_002649	NP_002640	WXS	Illumina GAIIx	Phase_I	P48736	PK3CG_HUMAN			2	2128	+			681					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2043G>A	CCDS5739.1																																																																																				0.378	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			10	151	0	0	0	1	0	10	151					A	106513029	G	A	106513029	2	1	179	1	0	0	0	0	0	0	0	1	11916	1306	46	2		2	PIK3CG	7	106513029	Silent	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		106513029	52625634	9	3124											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	49	0	0	0	1	0	29	49					T	140453136	A	T	140453136	3	4	179	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GS-01A-11D-A20C-08	33940107	140453136	18685527	10	3125											
SLC39A4	55630	broad.mit.edu	37	8	145639747	145639747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr8:145639747delA	ENST00000301305.3	-	6	1153	c.1048delT	c.(1048-1050)tgcfs	p.C350fs	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Frame_Shift_Del_p.C325fs	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	350					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGCCAGTGCAGGTCAGCAGC	0.657																																						uc003zcq.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1048-1050)tgcfs		Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.							37	32	34					8																	145639747		2190	4289	6479	SO:0001589	frameshift_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145639747delA	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1048delT	8.37:g.145639747delA	ENSP00000301305:p.Cys350fs		Somatic				SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_Frame_Shift_Del_p.C74fs|SLC39A4_uc003zcp.3_Frame_Shift_Del_p.C325fs	p.C350fs	NM_130849	NP_570901	WXS	Illumina GAIIx	Phase_I	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		5	1148	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		350					Q7L5S5|Q9H6T8|Q9NXC4	Frame_Shift_Del	DEL	ENST00000301305.3	37	c.1048delT	CCDS6424.1																																																																																				0.657	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			2	4						2	4	---	---	---	---	-	145639747	A	-	145639747	7	5	179	1	0	1	0	1	0	0	0	0	14620	188	7	0	923	0	SLC39A4	8	145639747	Frame_Shift_Del	DEL	A	TCGA-EL-A3GS-01A-11D-A20C-08		145639747	724275	11	3126											
FRMPD1	22844	broad.mit.edu	37	9	37745690	37745690	+	Missense_Mutation	SNP	G	G	A	rs200892375		TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr9:37745690G>A	ENST00000539465.1	+	16	4254	c.3661G>A	c.(3661-3663)Gtc>Atc	p.V1221I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.V1221I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1221						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)		TTCACCAGCCGTCCCTCCAGA	0.527																																						uc004aag.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.(3661-3663)Gtc>Atc		Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	79	85	83		3661	-2.5	0.0	9		83	0,8600		0,0,4300	yes	missense	FRMPD1	NM_014907.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1221/1579	37745690	1,13005	2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745690G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3661G>A	9.37:g.37745690G>A	ENSP00000444411:p.Val1221Ile		Somatic				FRMPD1_uc004aah.1_Missense_Mutation_p.V1221I	p.V1221I	NM_014907	NP_055722	WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	3705	+			1221					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3661G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.116	-0.656603	0.03480	2.27E-4	0.0	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	4.67	-2.47	0.06442	.	1.432230	0.03852	N	0.272449	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.39663	-0.9603	10	0.22109	T	0.4	-0.6456	4.699	0.12818	0.0:0.2588:0.2995:0.4417	.	1221	Q5SYB0	FRPD1_HUMAN	I	1221	ENSP00000366995:V1221I;ENSP00000444411:V1221I	ENSP00000366995:V1221I	V	+	1	0	FRMPD1	37735690	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.656000	0.05342	-0.666000	0.05310	-1.376000	0.01182	GTC		0.527	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		4	124	0	0	0	1	0	4	124					A	37745690	G	A	37745690	3	1	179	1	0	0	0	0	1	0	0	0	6057	1145	40	1	3719	1	FRMPD1	9	37745690	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		37745690	103467741	12	3127											
CD44	960	broad.mit.edu	37	11	35201882	35201882	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr11:35201882G>A	ENST00000428726.2	+	3	418	c.295G>A	c.(295-297)Gca>Aca	p.A99T	CD44_ENST00000434472.2_Missense_Mutation_p.A99T|CD44_ENST00000360158.4_Missense_Mutation_p.A99T|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.A99T|CD44_ENST00000352818.4_Missense_Mutation_p.A99T|CD44_ENST00000437706.2_Missense_Mutation_p.A99T|CD44_ENST00000433892.2_Missense_Mutation_p.A99T|CD44_ENST00000415148.2_Missense_Mutation_p.A99T|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.A99T|CD44_ENST00000263398.6_Missense_Mutation_p.A99T	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	99	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CATCTGTGCAGCAAACAACAC	0.493																																						uc001mvu.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(295-297)Gca>Aca		Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						198	156	170					11																	35201882		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35201882G>A	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"CD molecules", "Blood group antigens", "Proteoglycans / Cell surface : Other"	1681	protein-coding gene	gene with protein product	"hematopoietic cell E- and L-selectin ligand", "chondroitin sulfate proteoglycan 8"	107269	"CD44 antigen (homing function and Indian blood group system)"	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.295G>A	11.37:g.35201882G>A	ENSP00000398632:p.Ala99Thr		Somatic				CD44_uc021qfw.1_Missense_Mutation_p.A99T|CD44_uc001mvv.3_Missense_Mutation_p.A99T|CD44_uc001mvw.3_Missense_Mutation_p.A99T|CD44_uc001mwc.4_Missense_Mutation_p.A99T|CD44_uc001mvx.3_Missense_Mutation_p.A99T|CD44_uc010rer.2_Missense_Mutation_p.A99T|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron	p.A99T	NM_000610	NP_000601	WXS	Illumina GAIIx	Phase_I	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		2	729	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	99			Link.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.295G>A	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.550884|3.550884	0.65311|0.65311	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526000;ENST00000279452|ENST00000442151;ENST00000528455	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.08984|.	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03|.	5.86|5.86	5.86|5.86	0.93980|0.93980	C-type lectin fold (1);Link (3);C-type lectin-like (1);|.	0.122646|.	0.56097|.	D|.	0.000029|.	T|T	0.63733|0.63733	0.2536|0.2536	L|L	0.48877|0.48877	1.53|1.53	0.51767|0.51767	D|D	0.99993|0.99993	D;D;D;P;P;P|.	0.89917|.	0.998;0.999;1.0;0.923;0.846;0.57|.	D;D;D;P;P;P|.	0.91635|.	0.986;0.996;0.999;0.883;0.644;0.65|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.72032|.	D|.	0.01|.	-13.7883|-13.7883	16.0536|16.0536	0.80779|0.80779	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	99;99;99;99;99;99|.	B6EAT9;P16070-11;P16070-12;P16070-10;P16070-4;P16070|.	.;.;.;.;.;CD44_HUMAN|.	T|N	99;99;99;99;99;99;99;99;99;99;78;77;59|98;35	ENSP00000263398:A99T;ENSP00000389830:A99T;ENSP00000414567:A99T;ENSP00000391008:A99T;ENSP00000403990:A99T;ENSP00000353280:A99T;ENSP00000398632:A99T;ENSP00000392331:A99T;ENSP00000404447:A99T;ENSP00000309732:A99T;ENSP00000432405:A78T;ENSP00000434465:A77T;ENSP00000279452:A59T|.	ENSP00000263398:A99T|.	A|S	+|+	1|2	0|0	CD44|CD44	35158458|35158458	0.993000|0.993000	0.37304|0.37304	0.619000|0.619000	0.29118|0.29118	0.058000|0.058000	0.15608|0.15608	4.125000|4.125000	0.57931|0.57931	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.493	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		3	73	0	0	0	1	0	3	73					A	35201882	G	A	35201882	3	1	179	1	0	0	0	0	1	0	0	0	3017	971	34	2	305	2	CD44	11	35201882	Missense_Mutation	SNP	G	TCGA-EL-A3GS-01A-11D-A20C-08		35201882	99804634	13	3128											
DYRK4	8798	broad.mit.edu	37	12	4705796	4705796	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr12:4705796C>G	ENST00000540757.2	+	6	621	c.461C>G	c.(460-462)gCt>gGt	p.A154G	DYRK4_ENST00000010132.5_Missense_Mutation_p.A154G|DYRK4_ENST00000543431.1_Missense_Mutation_p.A154G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATCCTGGAAGCTCTCAGAAAG	0.498																																						uc009zeh.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(805-807)gCt>gGt		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.							109	96	100					12																	4705796		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705796C>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.461C>G	12.37:g.4705796C>G	ENSP00000441755:p.Ala154Gly		Somatic				DYRK4_uc001qmx.3_Missense_Mutation_p.A154G|DYRK4_uc001qmy.2_Missense_Mutation_p.A154G|DYRK4_uc021qtq.1_Missense_Mutation_p.A8G	p.A269G	NM_003845	NP_003836	WXS	Illumina GAIIx	Phase_I	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		7	848	+			154			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.806C>G	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495018	0.44352	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128805	0.52532	D	0.000076	T	0.65780	0.2724	L	0.37507	1.11	0.80722	D	1	D;P;B	0.55605	0.972;0.573;0.302	P;B;B	0.56398	0.797;0.133;0.21	T	0.66689	-0.5860	10	0.52906	T	0.07	.	13.8644	0.63578	0.1528:0.8472:0.0:0.0	.	269;154;154	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	G	269;154;154;154	ENSP00000437534:A269G;ENSP00000441755:A154G;ENSP00000010132:A154G;ENSP00000439697:A154G	ENSP00000010132:A154G	A	+	2	0	DYRK4	4576057	0.990000	0.36364	1.000000	0.80357	0.949000	0.60115	2.243000	0.43115	2.570000	0.86706	0.655000	0.94253	GCT		0.498	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			5	13	0	0	0	1	0	5	13					G	4705796	C	G	4705796	3	3	179	1	0	0	0	0	1	0	0	0	4858	797	28	4	475	4	DYRK4	12	4705796	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		4705796	129146099	14	3129											
TCL1B	9623	broad.mit.edu	37	14	96157184	96157184	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr14:96157184C>G	ENST00000340722.7	+	2	325	c.274C>G	c.(274-276)Ccc>Gcc	p.P92A	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	92										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCAGCTCTACCCCGGGAGGAA	0.607																																						uc001yfa.3																			0		p.P92P(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(274-276)Ccc>Gcc		Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.							67	70	69					14																	96157184		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96157184C>G	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.274C>G	14.37:g.96157184C>G	ENSP00000343223:p.Pro92Ala		Somatic				TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Missense_Mutation_p.P92A	p.P92A	NM_004918	NP_004909	WXS	Illumina GAIIx	Phase_I	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	325	+		all_cancers(154;0.103)	92					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.274C>G	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715416	0.30413	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.41400	1.0	3.29	-4.9	0.03094	.	.	.	.	.	T	0.38931	0.1059	M	0.77313	2.365	0.09310	N	1	P	0.43169	0.8	B	0.43575	0.424	T	0.26744	-1.0094	9	0.54805	T	0.06	-3.6128	2.0452	0.03559	0.1457:0.1952:0.1438:0.5153	.	92	O95988	TCL1B_HUMAN	A	92	ENSP00000343223:P92A	ENSP00000343223:P92A	P	+	1	0	TCL1B	95226937	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.931000	0.03967	-1.348000	0.02205	-0.379000	0.06801	CCC		0.607	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			3	100	0	0	0	1	0	3	100					G	96157184	C	G	96157184	3	3	179	1	0	0	0	0	1	0	0	0	15702	623	22	4	280	4	TCL1B	14	96157184	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		96157184	11192356	15	3130											
CHST5	23563	broad.mit.edu	37	16	75563706	75563706	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr16:75563706C>T	ENST00000336257.3	-	3	1971	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V199M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	193					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGAGCACCACGTGGCTGTAG	0.657																																						uc002fej.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(595-597)Gtg>Atg		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.							91	98	95					16																	75563706		2198	4298	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563706C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.577G>A	16.37:g.75563706C>T	ENSP00000338783:p.Val193Met		Somatic				CHST5_uc002fei.3_Missense_Mutation_p.V193M|CHST5_uc021tlk.1_Missense_Mutation_p.V193M	p.V199M	NM_024533	NP_078809	WXS	Illumina GAIIx	Phase_I	Q9GZS9	CHST5_HUMAN			4	916	-			193					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.595G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438007	0.43326	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.23552	1.9;1.9	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.066398	0.64402	D	0.000012	T	0.40498	0.1119	L	0.60012	1.86	0.41256	D	0.986744	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.19614	-1.0300	10	0.46703	T	0.11	.	6.9039	0.24299	0.0:0.8611:0.0:0.1389	.	199;193	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	193;199	ENSP00000338783:V193M;ENSP00000441220:V199M	ENSP00000338783:V193M	V	-	1	0	CHST5	74121207	1.000000	0.71417	0.999000	0.59377	0.519000	0.34347	2.231000	0.43009	1.514000	0.48869	0.313000	0.20887	GTG		0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		63	117	0	0	0	1	0	63	117					T	75563706	C	T	75563706	3	4	179	1	0	0	0	0	1	0	0	0	3407	536	19	1	662	1	CHST5	16	75563706	Missense_Mutation	SNP	C	TCGA-EL-A3GS-01A-11D-A20C-08		75563706	14791047	16	3131											
SDC4	6385	broad.mit.edu	37	20	43959044	43959044	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chr20:43959044T>C	ENST00000372733.3	-	4	446	c.407A>G	c.(406-408)cAg>cGg	p.Q136R	SDC4_ENST00000537976.1_Missense_Mutation_p.Q64R	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	136					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GTTGCTGCCCTGCACAGTGCT	0.527			T	ROS1	NSCLC																																	uc002xnu.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(406-408)cAg>cGg		Homo sapiens syndecan 4 (SDC4), mRNA.							156	125	135					20																	43959044		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43959044T>C	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.407A>G	20.37:g.43959044T>C	ENSP00000361818:p.Gln136Arg		Somatic				SDC4_uc010zws.2_Missense_Mutation_p.Q64R	p.Q136R	NM_002999	NP_002990	WXS	Illumina GAIIx	Phase_I	P31431	SDC4_HUMAN			3	447	-		Myeloproliferative disorder(115;0.0122)	136					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.407A>G	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	T	7.454	0.643344	0.14451	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.28666	1.6	5.93	5.93	0.95920	.	0.430351	0.26428	N	0.024433	T	0.25827	0.0629	L	0.45228	1.405	0.38248	D	0.941515	B	0.13145	0.007	B	0.12156	0.007	T	0.13308	-1.0514	10	0.10111	T	0.7	-29.7391	14.128	0.65235	0.0:0.0:0.0:1.0	.	136	P31431	SDC4_HUMAN	R	136;64	ENSP00000361818:Q136R	ENSP00000361818:Q136R	Q	-	2	0	SDC4	43392458	0.226000	0.23696	0.521000	0.27850	0.077000	0.17291	1.038000	0.30254	2.265000	0.75225	0.533000	0.62120	CAG		0.527	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		41	66	0	0	0	1	0	41	66					C	43959044	T	C	43959044	3	2	179	1	0	0	0	0	1	0	0	0	13954	1580	55	3	197	3	SDC4	20	43959044	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		43959044	19066476	17	3132											
ZNF280C	55609	broad.mit.edu	37	X	129354452	129354452	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GS-01A-11D-A20C-08	TCGA-EL-A3GS-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0284b66-384e-4381-8417-b75de48de723	e8912aa1-848f-4ab7-b099-c4a4dff101d6	g.chrX:129354452T>A	ENST00000370978.4	-	13	1551	c.1398A>T	c.(1396-1398)aaA>aaT	p.K466N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAACTCCTTTTTTCTGTTTAC	0.343																																						uc004evm.3																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1396-1398)aaA>aaT		Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.							84	78	80					X																	129354452		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354452T>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1398A>T	X.37:g.129354452T>A	ENSP00000360017:p.Lys466Asn		Somatic				ZNF280C_uc010nrf.2_Missense_Mutation_p.K417N	p.K466N	NM_017666	NP_060136	WXS	Illumina GAIIx	Phase_I	Q8ND82	Z280C_HUMAN			12	1601	-			466					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1398A>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	T	8.519	0.868347	0.17250	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.15256	4.18;2.44	3.92	1.27	0.21489	.	.	.	.	.	T	0.13072	0.0317	L	0.60455	1.87	0.31744	N	0.635402	P;B	0.39964	0.697;0.112	B;B	0.34722	0.188;0.188	T	0.18116	-1.0347	9	0.36615	T	0.2	.	3.3302	0.07082	0.0:0.2595:0.2054:0.5351	.	417;466	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	N	417;466;417	ENSP00000360017:K466N;ENSP00000408521:K417N	ENSP00000066465:K417N	K	-	3	2	ZNF280C	129182133	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	2.824000	0.48088	0.051000	0.15978	0.350000	0.21858	AAA		0.343	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		25	39	0	0	0	1	0	25	39					A	129354452	T	A	129354452	3	1	179	1	0	0	0	0	1	0	0	0	17813	1838	64	5	843	5	ZNF280C	23	129354452	Missense_Mutation	SNP	T	TCGA-EL-A3GS-01A-11D-A20C-08		129354452	25916108	18	3133											
GRIK3	2899	broad.mit.edu	37	1	37356590	37356590	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:37356590G>A	ENST00000373091.3	-	2	239	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	GRIK3_ENST00000373093.4_Missense_Mutation_p.P75S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	75					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)			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)				GTTGTGTTGGGCAGCAGAGTC	0.527																																						uc001caz.2																			0				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.(223-225)Ccc>Tcc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						292	233	253					1																	37356590		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	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr1:37356590G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.223C>T	1.37:g.37356590G>A	ENSP00000362183:p.Pro75Ser		Somatic				GRIK3_uc001cba.1_Missense_Mutation_p.P75S	p.P75S	NM_000831	NP_000822	WXS	Illumina GAIIx	Phase_I	Q13003	GRIK3_HUMAN			1	358	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	75					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.223C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158943	0.78226	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.85088	-1.94;-1.94	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89406	0.6706	M	0.63428	1.95	0.80722	D	1	P;P	0.46656	0.808;0.882	P;P	0.54346	0.532;0.749	D	0.86755	0.1963	10	0.29301	T	0.29	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	75;75	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	75	ENSP00000362183:P75S;ENSP00000362185:P75S	ENSP00000362183:P75S	P	-	1	0	GRIK3	37129177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.860000	0.99555	2.644000	0.89710	0.650000	0.86243	CCC		0.527	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		5	215	0	0	0	1	0	5	215					A	37356590	G	A	37356590	3	1	180	1	0	0	0	0	1	0	0	0	6775	1203	42	2	2596	2	GRIK3	1	37356590	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		37356590	211894031	1	3134											
BCL9	607	broad.mit.edu	37	1	147084886	147084886	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:147084886G>T	ENST00000234739.3	+	5	998	c.258G>T	c.(256-258)aaG>aaT	p.K86N	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	86					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGGGCTGAAGAATGGGGCTG	0.592			T	"IGH@, IGL@"	B-ALL																																	uc001epq.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(256-258)aaG>aaT		Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.							38	41	40					1																	147084886		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084886G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.258G>T	1.37:g.147084886G>T	ENSP00000234739:p.Lys86Asn		Somatic				BCL9_uc010ozr.1_Intron	p.K86N	NM_004326	NP_004317	WXS	Illumina GAIIx	Phase_I	O00512	BCL9_HUMAN			4	998	+	all_hematologic(923;0.115)		86					Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.258G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535980	0.85812	.	.	ENSG00000116128	ENST00000234739	T	0.71817	-0.6	5.4	5.4	0.78164	.	0.049063	0.85682	D	0.000000	T	0.79393	0.4438	L	0.54323	1.7	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.79895	-0.1610	10	0.72032	D	0.01	-14.6297	19.3659	0.94461	0.0:0.0:1.0:0.0	.	86	O00512	BCL9_HUMAN	N	86	ENSP00000234739:K86N	ENSP00000234739:K86N	K	+	3	2	BCL9	145551510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.561000	0.53770	2.797000	0.96272	0.655000	0.94253	AAG		0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		20	50	0	0	0	1	0	20	50					T	147084886	G	T	147084886	3	4	180	1	0	0	0	0	1	0	0	0	1381	933	33	4	264	4	BCL9	1	147084886	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	109728296	147084886	102165735	2	3135											
NAV1	89796	broad.mit.edu	37	1	201779154	201779154	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:201779154G>A	ENST00000367296.4	+	23	4902	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.V1434V|NAV1_ENST00000295624.6_Silent_p.V1491V|NAV1_ENST00000367295.1_Silent_p.V1100V|NAV1_ENST00000367302.1_Silent_p.V1447V|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367297.4_Silent_p.V1486V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1494					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCCACGTGAAACGAGTGT	0.517																																						uc021phi.1																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4480-4482)gtG>gtA		Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.							122	102	109					1																	201779154		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779154G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4482G>A	1.37:g.201779154G>A			Somatic				NAV1_uc001gwu.3_Silent_p.V1491V|NAV1_uc001gwx.3_Silent_p.V1100V	p.V1494V	NM_020443	NP_065176	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			22	4829	+			1494					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.4482G>A	CCDS1414.2																																																																																				0.517	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		15	139	0	0	0	1	0	15	139					A	201779154	G	A	201779154	2	1	180	1	0	0	0	0	0	0	0	1	10183	1277	45	2		2	NAV1	1	201779154	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	54694268	201779154	47471467	3	3136											
ACTA1	58	broad.mit.edu	37	1	229568532	229568532	+	Silent	SNP	G	G	A	rs577764297		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:229568532G>A	ENST00000366684.3	-	3	327	c.225C>T	c.(223-225)caC>caT	p.H75H	ACTA1_ENST00000366683.2_Silent_p.H75H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	75			H -> L (in NEM3). {ECO:0000269|PubMed:15236405}.|H -> R (in NEM3). {ECO:0000269|PubMed:15236405}.		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGATGATGCCGTGCTCGATAG	0.582																																						uc001htm.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(223-225)caC>caT		Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	Dornase Alfa(DB00003)						88	86	86					1																	229568532		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568532G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.225C>T	1.37:g.229568532G>A			Somatic					p.H75H	NM_001100	NP_001091	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			2	330	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	75		H -> L (in NEM3).|H -> R (in NEM3).			P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.225C>T	CCDS1578.1																																																																																				0.582	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		4	200	0	0	0	1	0	4	200					A	229568532	G	A	229568532	2	1	180	1	0	0	0	0	0	0	0	1	191	1136	40	1		1	ACTA1	1	229568532	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	27789378	229568532	19682089	4	3137											
CNRIP1	25927	broad.mit.edu	37	2	68544345	68544345	+	Missense_Mutation	SNP	C	C	T	rs34128476	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:68544345C>T	ENST00000263655.3	-	2	879	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.E92K|CNRIP1_ENST00000409559.3_Missense_Mutation_p.E92K	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	92										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GTCACACCTTCTGTGTCATAT	0.493																																						uc002sek.4																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(274-276)Gaa>Aaa		Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA.							180	151	161					2																	68544345		2203	4300	6503	SO:0001583	missense	25927						protein binding	g.chr2:68544345C>T	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.274G>A	2.37:g.68544345C>T	ENSP00000263655:p.Glu92Lys		Somatic				CNRIP1_uc002sej.4_Missense_Mutation_p.E92K|CNRIP1_uc010fdd.1_Missense_Mutation_p.E92K	p.E92K	NM_015463	NP_056278	WXS	Illumina GAIIx	Phase_I	Q96F85	CNRP1_HUMAN			1	925	-			92					B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	c.274G>A	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738571	0.89573	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.998	D;P;D	0.85130	0.997;0.879;0.994	T	0.64647	-0.6358	9	0.32370	T	0.25	-0.2662	17.0178	0.86424	0.0:1.0:0.0:0.0	.	92;92;92	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	K	92	.	ENSP00000263655:E92K	E	-	1	0	CNRIP1	68397849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.049000	0.76613	2.697000	0.92050	0.555000	0.69702	GAA		0.493	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		38	72	0	0	0	1	0	38	72					T	68544345	C	T	68544345	3	4	180	1	0	0	0	0	1	0	0	0	3633	922	32	2	289	2	CNRIP1	2	68544345	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		68544345	174655028	5	3138											
TTL	150465	broad.mit.edu	37	2	113251935	113251935	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:113251935C>T	ENST00000233336.6	+	3	643	c.452C>T	c.(451-453)tCa>tTa	p.S151L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	151	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATTGCAAAGTCATCAGCCGGT	0.428			T	ETV6	ALL																																	uc002thu.3				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(451-453)tCa>tTa		Homo sapiens tubulin tyrosine ligase (TTL), mRNA.							58	56	57					2																	113251935		2203	4300	6503	SO:0001583	missense	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113251935C>T		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.452C>T	2.37:g.113251935C>T	ENSP00000233336:p.Ser151Leu		Somatic					p.S151L	NM_153712	NP_714923	WXS	Illumina GAIIx	Phase_I	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	2	631	+		Ovarian(717;0.024)	151			TTL.		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	c.452C>T	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053638	0.93793	.	.	ENSG00000114999	ENST00000233336	T	0.06371	3.31	5.56	5.56	0.83823	.	0.054774	0.85682	D	0.000000	T	0.17577	0.0422	L	0.37630	1.12	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	T	0.00134	-1.2008	10	0.87932	D	0	.	18.6492	0.91423	0.0:1.0:0.0:0.0	.	151	Q8NG68	TTL_HUMAN	L	151	ENSP00000233336:S151L	ENSP00000233336:S151L	S	+	2	0	TTL	112968406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.553000	0.82203	2.779000	0.95612	0.561000	0.74099	TCA		0.428	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		16	35	0	0	0	1	0	16	35					T	113251935	C	T	113251935	3	4	180	1	0	0	0	0	1	0	0	0	16718	838	29	2	462	2	TTL	2	113251935	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08	44707590	113251935	129947438	6	3139											
SETD5	55209	broad.mit.edu	37	3	9517666	9517666	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:9517666C>T	ENST00000406341.1	+	22	4410	c.4220C>T	c.(4219-4221)gCg>gTg	p.A1407V	SETD5_ENST00000402466.1_Missense_Mutation_p.A1309V|SETD5_ENST00000302463.6_Missense_Mutation_p.A1309V|SETD5_ENST00000402198.1_Missense_Mutation_p.A1407V|SETD5_ENST00000407969.1_Missense_Mutation_p.A1426V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1407	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGTATCTGCGGTTTCCAAT	0.567																																						uc003brt.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(4219-4221)gCg>gTg		Homo sapiens SET domain containing 5 (SETD5), mRNA.							60	58	59					3																	9517666		1990	4175	6165	SO:0001583	missense	55209							g.chr3:9517666C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.4220C>T	3.37:g.9517666C>T	ENSP00000383939:p.Ala1407Val		Somatic				SETD5_uc003bru.3_Missense_Mutation_p.A1309V|SETD5_uc003brv.3_Missense_Mutation_p.A1296V|SETD5_uc010hck.3_Missense_Mutation_p.A889V|SETD5_uc003brx.3_Missense_Mutation_p.A1076V	p.A1407V	NM_001080517	NP_001073986	WXS	Illumina GAIIx	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	22	4655	+	Medulloblastoma(99;0.227)		1407			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.4220C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253260	0.39797	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93488	-2.89;-3.23;-2.89;-2.87;-3.23	5.17	5.17	0.71159	.	0.165152	0.41605	D	0.000853	D	0.84862	0.5566	N	0.14661	0.345	0.34471	D	0.702794	B;B;B	0.31817	0.341;0.03;0.014	B;B;B	0.19148	0.024;0.012;0.005	D	0.87431	0.2388	10	0.39692	T	0.17	-7.2705	12.8703	0.57960	0.0:0.9147:0.0:0.0853	.	1076;1309;1407	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	V	1407;1309;1407;1426;1309	ENSP00000385852:A1407V;ENSP00000384429:A1309V;ENSP00000383939:A1407V;ENSP00000384114:A1426V;ENSP00000302028:A1309V	ENSP00000302028:A1309V	A	+	2	0	SETD5	9492666	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.293000	0.51779	2.558000	0.86282	0.467000	0.42956	GCG		0.567	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		15	40	0	0	0	1	0	15	40					T	9517666	C	T	9517666	3	4	180	1	0	0	0	0	1	0	0	0	14134	768	27	1	4302	1	SETD5	3	9517666	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		9517666	188504764	7	3140											
LMLN	89782	broad.mit.edu	37	3	197746190	197746190	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:197746190G>A	ENST00000330198.4	+	12	1321	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	LMLN_ENST00000420910.2_Silent_p.Q470Q|LMLN_ENST00000482695.1_Silent_p.Q418Q|LMLN_ENST00000332636.5_Silent_p.Q381Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	433					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)		CTTGCAGACAGGACCAGAGAG	0.488																																						uc010iar.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1408-1410)caG>caA		Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.							150	134	140					3																	197746190		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197746190G>A	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1299G>A	3.37:g.197746190G>A			Somatic				LMLN_uc003fyt.3_Silent_p.Q418Q|LMLN_uc011buo.2_Silent_p.Q433Q|LMLN_uc010ias.3_Silent_p.Q381Q|LMLN_uc003fyu.3_Silent_p.Q230Q	p.Q470Q	NM_001136049	NP_001129521	WXS	Illumina GAIIx	Phase_I	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)	12	1432	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	433					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.1410G>A	CCDS3332.1																																																																																				0.488	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		3	105	0	0	0	1	0	3	105					A	197746190	G	A	197746190	2	1	180	1	0	0	0	0	0	0	0	1	8847	991	35	2		2	LMLN	3	197746190	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	188228524	197746190	276240	8	3141											
ZBTB49	166793	broad.mit.edu	37	4	4322849	4322849	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr4:4322849G>A	ENST00000337872.4	+	8	2225	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ZBTB49_ENST00000538529.1_Missense_Mutation_p.E185K|RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E580K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	702					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(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGCCGGTGGCGAACCACTGCA	0.602																																						uc003ghu.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(2104-2106)Gaa>Aaa		Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.							55	52	53					4																	4322849		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322849G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.2104G>A	4.37:g.4322849G>A	ENSP00000338807:p.Glu702Lys		Somatic				ZBTB49_uc003ghv.3_Missense_Mutation_p.E185K|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Missense_Mutation_p.E280K	p.E702K	NM_145291	NP_660334	WXS	Illumina GAIIx	Phase_I	Q6ZSB9	ZBT49_HUMAN			7	2279	+			702					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.2104G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180719	0.21787	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14766	2.48;2.86;3.17	4.6	1.74	0.24563	.	0.429787	0.19133	N	0.121881	T	0.09818	0.0241	L	0.58101	1.795	0.09310	N	1	P;P	0.46859	0.885;0.739	B;B	0.31101	0.124;0.091	T	0.36335	-0.9752	10	0.02654	T	1	.	15.5341	0.75990	0.0:0.4146:0.5854:0.0	.	580;702	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	K	580;702;185	ENSP00000348091:E580K;ENSP00000338807:E702K;ENSP00000445653:E185K	ENSP00000338807:E702K	E	+	1	0	ZBTB49	4373750	0.596000	0.26866	0.013000	0.15412	0.038000	0.13279	2.125000	0.42016	0.088000	0.17205	0.557000	0.71058	GAA		0.602	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		3	68	0	0	0	1	0	3	68					A	4322849	G	A	4322849	3	1	180	1	0	0	0	0	1	0	0	0	17547	1059	37	1	2130	1	ZBTB49	4	4322849	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		4322849	186831427	9	3142											
PDZD2	23037	broad.mit.edu	37	5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr5:32089285A>G	ENST00000438447.1	+	20	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1911					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						GGCTGGGGGGACGGACCACAG	0.582																																						uc003jhl.3																			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.(5731-5733)Acg>Gcg		Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.							87	91	90					5																	32089285		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089285A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5731A>G	5.37:g.32089285A>G	ENSP00000402033:p.Thr1911Ala		Somatic				PDZD2_uc003jhm.3_Missense_Mutation_p.T1911A	p.T1911A	NM_178140	NP_835260	WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			19	6119	+			1911					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.5731A>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786466	0.31593	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06849	3.25;3.25	5.42	-10.8	0.00216	.	2.256200	0.01793	N	0.032409	T	0.04679	0.0127	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	10	0.07990	T	0.79	.	6.2753	0.20977	0.1704:0.2236:0.5047:0.1013	.	1911	O15018	PDZD2_HUMAN	A	1911;1712;1911	ENSP00000402033:T1911A;ENSP00000282493:T1911A	ENSP00000282493:T1911A	T	+	1	0	PDZD2	32125042	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.385000	0.01062	-2.381000	0.00594	-0.331000	0.08364	ACG		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			3	154	0	0	0	1	0	3	154					G	32089285	A	G	32089285	3	3	180	1	0	0	0	0	1	0	0	0	11701	275	10	3	5805	3	PDZD2	5	32089285	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		32089285	148825975	10	3143											
ALDH5A1	7915	broad.mit.edu	37	6	24505158	24505158	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:24505158C>T	ENST00000357578.3	+	4	816	c.671C>T	c.(670-672)aCt>aTt	p.T224I	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.T196I|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.T136I|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.T224I	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	224					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GCCGGCTGTACTGTCGTGGTG	0.592																																						uc003nef.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(670-672)aCt>aTt		Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						74	77	76					6																	24505158		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24505158C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.671C>T	6.37:g.24505158C>T	ENSP00000350191:p.Thr224Ile		Somatic				ALDH5A1_uc003neg.3_Missense_Mutation_p.T224I	p.T224I	NM_170740	NP_733936	WXS	Illumina GAIIx	Phase_I	P51649	SSDH_HUMAN			3	699	+			224					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.671C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222635	0.39300	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.84	3.96	0.45880	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052048	0.85682	D	0.000000	D	0.86176	0.5870	H	0.97023	3.925	0.80722	D	1	P;P	0.36959	0.575;0.52	B;B	0.42625	0.393;0.273	D	0.89884	0.4032	10	0.87932	D	0	-13.9473	15.5697	0.76323	0.0:0.8616:0.1384:0.0	.	224;224	P51649;G5E949	SSDH_HUMAN;.	I	224;136;196;224	ENSP00000350191:T224I;ENSP00000438193:T136I;ENSP00000417687:T196I;ENSP00000314649:T224I	ENSP00000314649:T224I	T	+	2	0	ALDH5A1	24613137	1.000000	0.71417	0.881000	0.34555	0.081000	0.17604	5.590000	0.67530	1.389000	0.46526	0.655000	0.94253	ACT		0.592	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			79	102	0	0	0	1	0	79	102					T	24505158	C	T	24505158	3	4	180	1	0	0	0	0	1	0	0	0	502	565	20	2	685	2	ALDH5A1	6	24505158	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		24505158	146609909	11	3144											
CALCR	799	broad.mit.edu	37	7	93055811	93055811	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:93055811C>T	ENST00000394441.1	-	13	1597	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	CALCR_ENST00000421592.1_Missense_Mutation_p.A444T|CALCR_ENST00000359558.2_Missense_Mutation_p.A462T|CALCR_ENST00000360249.4_Missense_Mutation_p.A444T|CALCR_ENST00000426151.1_Missense_Mutation_p.A428T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	462					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCGGCTGCAGCGCGAGCAGAG	0.592																																						uc003umv.2																			0		p.I462I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1384-1386)Gct>Act		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						76	80	79					7																	93055811		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055811C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1282G>A	7.37:g.93055811C>T	ENSP00000377959:p.Ala428Thr		Somatic				CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A428T|CALCR_uc003umw.2_Missense_Mutation_p.A428T	p.A462T	NM_001164737	NP_001158209	WXS	Illumina GAIIx	Phase_I	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1684	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		444					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1384G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395071	0.25205	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.47869	0.83;0.84;0.84;0.95;0.95	5.11	-4.51	0.03483	.	.	.	.	.	T	0.25195	0.0612	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15484	0.013;0.001	T	0.19844	-1.0293	9	0.24483	T	0.36	.	2.2517	0.04045	0.1137:0.171:0.2612:0.4541	.	462;428	F5H605;A4D1G6	.;.	T	462;444;444;428;428	ENSP00000352561:A462T;ENSP00000353385:A444T;ENSP00000399552:A444T;ENSP00000377959:A428T;ENSP00000389295:A428T	ENSP00000352561:A462T	A	-	1	0	CALCR	92893747	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.303000	0.19210	-0.671000	0.05274	-0.909000	0.02823	GCT		0.592	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		46	88	0	0	0	1	0	46	88					T	93055811	C	T	93055811	3	4	180	1	0	0	0	0	1	0	0	0	2579	768	27	1	146	1	CALCR	7	93055811	Missense_Mutation	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		93055811	66082852	12	3145											
MKLN1	4289	broad.mit.edu	37	7	131073683	131073683	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:131073683A>T	ENST00000352689.6	+	4	392	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MKLN1_ENST00000429546.1_Nonsense_Mutation_p.K26*|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.K26*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	118					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTCACCTTGAAGCATAAAAT	0.299																																						uc011kpm.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(352-354)Aag>Tag		Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.							65	65	65					7																	131073683		2203	4296	6499	SO:0001587	stop_gained	4289				signal transduction	cytoplasm	protein binding	g.chr7:131073683A>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.352A>T	7.37:g.131073683A>T	ENSP00000323527:p.Lys118*		Somatic				MKLN1_uc011kpl.2_Nonsense_Mutation_p.K95*|MKLN1_uc010lmh.2_Nonsense_Mutation_p.K118*|MKLN1_uc003vqs.3_5'UTR	p.K118*	NM_013255	NP_037387	WXS	Illumina GAIIx	Phase_I	Q9UL63	MKLN1_HUMAN			3	416	+	Melanoma(18;0.162)		118					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	ENST00000352689.6	37	c.352A>T	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	A	33	5.234366	0.95207	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6403	15.1993	0.73122	1.0:0.0:0.0:0.0	.	.	.	.	X	26;26;26;26;118	.	ENSP00000323527:K118X	K	+	1	0	MKLN1	130724223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.187000	0.69744	0.528000	0.53228	AAG		0.299	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		9	20	0	0	0	1	0	9	20					T	131073683	A	T	131073683	4	4	180	1	0	0	0	0	0	1	0	0	9603	247	9	5	399	5	MKLN1	7	131073683	Nonsense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	38017872	131073683	28064980	13	3146											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	59	0	0	0	1	0	25	59					T	140453136	A	T	140453136	3	4	180	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	9379453	140453136	18685527	14	3147											
TNKS	8658	broad.mit.edu	37	8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	rs370349163		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													G|||	1	0.000199681	0	0	5008	,	,		15309	0.001		0	False		,,,				2504	0					uc003wss.3																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3010-3012)Gta>Ata		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.		G	ILE/VAL	0,4406		0,0,2203	78	82	81		3010	5.7	0.9	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNKS	NM_003747.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1004/1328	9609296	1,13005	2203	4300	6503	SO:0001583	missense	8658				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609296G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3010G>A	8.37:g.9609296G>A	ENSP00000311579:p.Val1004Ile		Somatic				TNKS_uc011kww.2_Missense_Mutation_p.V767I|TNKS_uc010lrt.1_Non-coding_Transcript	p.V1004I	NM_003747	NP_003738	WXS	Illumina GAIIx	Phase_I	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	18	3015	+			1004					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3010G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004279	0.19199	0.0	1.16E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.61859	0.07;0.14	5.73	5.73	0.89815	.	0.331114	0.32055	N	0.006645	T	0.45034	0.1322	N	0.19112	0.55	0.54753	D	0.999982	B	0.16396	0.017	B	0.09377	0.004	T	0.29941	-0.9995	10	0.18276	T	0.48	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1004	O95271	TNKS1_HUMAN	I	1004;767	ENSP00000311579:V1004I;ENSP00000429890:V767I	ENSP00000311579:V1004I	V	+	1	0	TNKS	9646706	1.000000	0.71417	0.901000	0.35422	0.191000	0.23601	6.449000	0.73473	2.698000	0.92095	0.655000	0.94253	GTA		0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	172	0	0	0	1	0	4	172					A	9609296	G	A	9609296	3	1	180	1	0	0	0	0	1	0	0	0	16316	1145	40	1	3084	1	TNKS	8	9609296	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		9609296	136754726	15	3148											
MPDZ	8777	broad.mit.edu	37	9	13125351	13125351	+	Silent	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:13125351T>C	ENST00000319217.7	-	35	4918	c.4671A>G	c.(4669-4671)aaA>aaG	p.K1557K	MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000536827.1_Silent_p.K1524K|MPDZ_ENST00000381015.4_Silent_p.K1557K|MPDZ_ENST00000546205.1_Silent_p.K1571K|MPDZ_ENST00000447879.1_Silent_p.K1524K|MPDZ_ENST00000381022.2_Silent_p.K1557K|MPDZ_ENST00000541718.1_Silent_p.K1557K|MPDZ_ENST00000538841.1_Silent_p.K416K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1557	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATGGTAAGTTTTACTGTCA	0.443																																						uc010mhy.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4669-4671)aaA>aaG		Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.							110	107	108					9																	13125351		1895	4115	6010	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13125351T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4671A>G	9.37:g.13125351T>C			Somatic				MPDZ_uc003zky.4_Silent_p.K119K|MPDZ_uc010mib.3_Silent_p.K262K|MPDZ_uc010mhx.3_Silent_p.K379K|MPDZ_uc011lmm.2_Silent_p.K416K|MPDZ_uc003zkz.4_Silent_p.K250K|MPDZ_uc010mhz.3_Silent_p.K1524K|MPDZ_uc011lmn.2_Silent_p.K1524K|MPDZ_uc003zlb.4_Silent_p.K1557K|MPDZ_uc010mia.1_Silent_p.K1557K	p.K1557K	NM_003829	NP_003820	WXS	Illumina GAIIx	Phase_I	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	33	4728	-			1557			PDZ 9.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.4671A>G																																																																																					0.443	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		29	32	0	0	0	1	0	29	32					C	13125351	T	C	13125351	2	2	180	1	0	0	0	0	0	0	0	1	9722	1722	60	3		3	MPDZ	9	13125351	Silent	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		13125351	128088080	16	3149											
GALT	2592	broad.mit.edu	37	9	34647938	34647938	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:34647938G>A	ENST00000378842.3	+	5	529	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.A54T|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	163					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGAGCTGGGTGCCCAGTACCC	0.587									Galactosemia																													uc003zve.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(487-489)Gcc>Acc		Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.							72	68	69					9																	34647938		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34647938G>A	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.487G>A	9.37:g.34647938G>A	ENSP00000368119:p.Ala163Thr		Somatic				GALT_uc003zvf.3_Missense_Mutation_p.A54T|GALT_uc011lop.1_Missense_Mutation_p.A115T|IL11RA_uc003zvi.3_5'Flank	p.A163T	NM_000155	NP_000146	WXS	Illumina GAIIx	Phase_I	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	4	554	+	all_epithelial(49;0.102)		163					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.487G>A	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527546	0.44969	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99454	-5.92;-5.92	5.3	3.35	0.38373	Histidine triad motif (1);Histidine triad-like motif (1);Galactose-1-phosphate uridyl transferase, N-terminal (1);	0.499317	0.17550	U	0.170211	D	0.97986	0.9337	L	0.49699	1.58	0.43211	D	0.995071	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.13407	0.005;0.009;0.005	D	0.98083	1.0405	10	0.44086	T	0.13	-4.9035	9.6665	0.39988	0.0749:0.0:0.7851:0.14	.	115;54;163	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	T	54;163	ENSP00000401956:A54T;ENSP00000368119:A163T	ENSP00000368119:A163T	A	+	1	0	GALT	34637938	0.958000	0.32768	1.000000	0.80357	0.988000	0.76386	1.391000	0.34475	1.228000	0.43614	0.655000	0.94253	GCC		0.587	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		30	44	0	0	0	1	0	30	44					A	34647938	G	A	34647938	3	1	180	1	0	0	0	0	1	0	0	0	6230	1319	46	2	505	2	GALT	9	34647938	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	21522587	34647938	106565493	17	3150											
BSPRY	54836	broad.mit.edu	37	9	116116526	116116526	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:116116526A>G	ENST00000374183.4	+	2	247	c.208A>G	c.(208-210)Att>Gtt	p.I70V	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	70					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCAGAACAAGATTGTGGACCA	0.507																																						uc004bhg.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(208-210)Att>Gtt		Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.							120	128	125					9																	116116526		2120	4240	6360	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116116526A>G	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.208A>G	9.37:g.116116526A>G	ENSP00000363298:p.Ile70Val		Somatic				BSPRY_uc010muw.3_Missense_Mutation_p.I70V	p.I70V	NM_017688	NP_060158	WXS	Illumina GAIIx	Phase_I	Q5W0U4	BSPRY_HUMAN			1	256	+			70					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.208A>G	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271403	0.40194	.	.	ENSG00000119411	ENST00000374183	T	0.57107	0.42	5.01	3.85	0.44370	.	0.068566	0.56097	D	0.000025	T	0.36082	0.0954	L	0.27053	0.805	0.26583	N	0.973333	P;B	0.41041	0.736;0.302	B;B	0.35688	0.208;0.073	T	0.23940	-1.0174	10	0.66056	D	0.02	-9.451	9.7878	0.40686	0.6359:0.3641:0.0:0.0	.	70;70	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	V	70	ENSP00000363298:I70V	ENSP00000363298:I70V	I	+	1	0	BSPRY	115156347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.985000	0.40668	0.743000	0.32719	0.482000	0.46254	ATT		0.507	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		30	35	0	0	0	1	0	30	35					G	116116526	A	G	116116526	3	3	180	1	0	0	0	0	1	0	0	0	1532	333	12	3	214	3	BSPRY	9	116116526	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08	81468588	116116526	25096905	18	3151											
COL5A1	1289	broad.mit.edu	37	9	137721851	137721851	+	Silent	SNP	C	C	T	rs138396959		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:137721851C>T	ENST00000371817.3	+	64	5511	c.5097C>T	c.(5095-5097)aaC>aaT	p.N1699N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1699	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		CCAAAGAAAACCCGGGCTCCT	0.537																																						uc004cfe.3																			0		p.E1698*(1)		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.(5095-5097)aaC>aaT		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							74	70	71					9																	137721851		2203	4300	6503	SO:0001819	synonymous_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.chr9:137721851C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5097C>T	9.37:g.137721851C>T			Somatic				BC058547_uc004cff.3_Intron	p.N1699N	NM_000093	NP_000084	WXS	Illumina GAIIx	Phase_I	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)	63	5479	+		Myeloproliferative disorder(178;0.0341)	1699			Fibrillar collagen NC1.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.5097C>T	CCDS6982.1																																																																																				0.537	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		5	21	0	0	0	1	0	5	21					T	137721851	C	T	137721851	2	4	180	1	0	0	0	0	0	0	0	1	3696	506	18	2		2	COL5A1	9	137721851	Silent	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08	21605325	137721851	3491580	19	3152											
JMJD1C	221037	broad.mit.edu	37	10	64967938	64967938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:64967938delG	ENST00000399262.2	-	10	3709	c.3491delC	c.(3490-3492)ccafs	p.P1164fs	JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000399251.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.P982fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1164					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGATGTTCTGGTATCTTGCC	0.388																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3490-3492)ccafs		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							198	188	191					10																	64967938		1938	4151	6089	SO:0001589	frameshift_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967938delG	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3491delC	10.37:g.64967938delG	ENSP00000382204:p.Pro1164fs		Somatic				JMJD1C_uc001jml.3_Frame_Shift_Del_p.P945fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.P876fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.P982fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.P201fs	p.P1164fs	NM_032776	NP_116165	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			9	3791	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1164					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Frame_Shift_Del	DEL	ENST00000399262.2	37	c.3491delC	CCDS41532.1																																																																																				0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		92	183						92	183	---	---	---	---	-	64967938	G	-	64967938	7	5	180	1	0	1	0	1	0	0	0	0	7950	1348	47	0	4199	0	JMJD1C	10	64967938	Frame_Shift_Del	DEL	G	TCGA-EL-A3GU-01A-11D-A21A-08		64967938	70566809	20	3153											
SLIT1	6585	broad.mit.edu	37	10	98816982	98816982	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:98816982T>C	ENST00000266058.4	-	12	1387	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Y381C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	381					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGGGTGTATAGGCCTCC	0.572																																						uc001kmw.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1141-1143)tAc>tGc		Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.							89	80	83					10																	98816982		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	g.chr10:98816982T>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1142A>G	10.37:g.98816982T>C	ENSP00000266058:p.Tyr381Cys		Somatic				SLIT1_uc009xvh.1_Missense_Mutation_p.Y391C	p.Y381C	NM_003061	NP_003052	WXS	Illumina GAIIx	Phase_I	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	11	1394	-		Colorectal(252;0.162)	381					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1142A>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272659	0.40194	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008	T;T;T	0.57752	0.38;0.38;0.38	5.62	3.12	0.35913	.	0.254676	0.40469	N	0.001097	T	0.52837	0.1759	N	0.25332	0.735	0.80722	D	1	P;D	0.54047	0.922;0.964	P;P	0.61070	0.883;0.806	T	0.49495	-0.8934	10	0.40728	T	0.16	.	10.3065	0.43683	0.3669:0.0:0.0:0.6331	.	391;381	E7EWQ8;O75093	.;SLIT1_HUMAN	C	381;391;357;381;374;357	ENSP00000266058:Y381C;ENSP00000360109:Y381C;ENSP00000315005:Y374C	ENSP00000266058:Y381C	Y	-	2	0	SLIT1	98806972	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.859000	0.39418	0.937000	0.37394	0.533000	0.62120	TAC		0.572	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		3	62	0	0	0	1	0	3	62					C	98816982	T	C	98816982	3	2	180	1	0	0	0	0	1	0	0	0	14739	1638	57	3	3566	3	SLIT1	10	98816982	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08	33849044	98816982	36717765	21	3154											
MXI1	4601	broad.mit.edu	37	10	111986020	111986020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:111986020delT	ENST00000239007.7	+	1	270	c.52delT	c.(52-54)tttfs	p.F18fs	MXI1_ENST00000361248.4_Intron|MXI1_ENST00000332674.5_Intron|MXI1_ENST00000393134.1_Frame_Shift_Del_p.F18fs|MXI1_ENST00000369612.1_5'Flank	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	18					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGCTGCCGAGTTTTTGGAGCG	0.677																																						uc001kza.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.(52-54)tttfs		Homo sapiens MAX interactor 1 (MXI1), transcript variant 1, mRNA.			,,	0,3766		0,0,1883	26	20	22		,,	3.0	1.0	10		22	6,7294		1,4,3645	no	intron,frameshift,intron	MXI1	NM_130439.3,NM_005962.4,NM_001008541.1	,,	1,4,5528	A1A1,A1R,RR		0.0822,0.0,0.0542	,,	,,	111986020	6,11060	1991	3877	5868	SO:0001589	frameshift_variant	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:111986020delT	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.52delT	10.37:g.111986020delT	ENSP00000239007:p.Phe18fs		Somatic				MXI1_uc001kyy.3_Intron|MXI1_uc001kyz.3_Intron|MXI1_uc010qrc.2_Frame_Shift_Del_p.F18fs|MXI1_uc009xxv.3_5'Flank	p.F18fs	NM_005962	NP_005953	WXS	Illumina GAIIx	Phase_I	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	0	259	+		Breast(234;0.052)|Lung NSC(174;0.223)	18					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Frame_Shift_Del	DEL	ENST00000239007.7	37	c.52delT	CCDS7564.2																																																																																				0.677	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		2	4						2	4	---	---	---	---	-	111986020	T	-	111986020	7	5	180	1	0	1	0	1	0	0	0	0	10002	1725	60	0	332	0	MXI1	10	111986020	Frame_Shift_Del	DEL	T	TCGA-EL-A3GU-01A-11D-A21A-08	13169038	111986020	23548727	22	3155											
MRPL23	6150	broad.mit.edu	37	11	1977593	1977593	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:1977593G>A	ENST00000397298.3	+	5	490	c.405G>A	c.(403-405)caG>caA	p.Q135Q	MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Silent_p.Q135Q	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	135					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|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;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGAGAGGCAGCAGAGGCAGA	0.682																																						uc001lux.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(403-405)caG>caA		Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.							51	51	51					11																	1977593		2202	4299	6501	SO:0001819	synonymous_variant	6150				translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome	g.chr11:1977593G>A	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"Mitochondrial ribosomal proteins / large subunits"	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.405G>A	11.37:g.1977593G>A			Somatic					p.Q135Q	NM_021134	NP_066957	WXS	Illumina GAIIx	Phase_I	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	4	496	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	135					A8MT29|Q96Q71	Silent	SNP	ENST00000397298.3	37	c.405G>A	CCDS31336.1																																																																																				0.682	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		4	81	0	0	0	1	0	4	81					A	1977593	G	A	1977593	2	1	180	1	0	0	0	0	0	0	0	1	9789	962	34	2		2	MRPL23	11	1977593	Silent	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		1977593	133028923	23	3156											
PRMT3	10196	broad.mit.edu	37	11	20409654	20409654	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:20409654G>A	ENST00000331079.6	+	2	335	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	40					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGACGATGCAGATCTCCCCCA	0.677																																						uc001mqb.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(118-120)Gat>Aat		Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.							81	74	77					11																	20409654		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20409654G>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.118G>A	11.37:g.20409654G>A	ENSP00000331879:p.Asp40Asn		Somatic				PRMT3_uc001mqc.3_Intron|PRMT3_uc010rdn.2_Intron	p.D40N	NM_005788	NP_005779	WXS	Illumina GAIIx	Phase_I	O60678	ANM3_HUMAN			1	335	+			40					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.118G>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780623	0.31502	.	.	ENSG00000185238	ENST00000331079;ENST00000541255	T	0.52295	0.67	5.84	5.84	0.93424	.	.	.	.	.	T	0.31136	0.0787	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08472	-1.0720	9	0.40728	T	0.16	.	11.4653	0.50235	0.1133:0.0:0.8867:0.0	.	40	O60678	ANM3_HUMAN	N	40	ENSP00000331879:D40N	ENSP00000331879:D40N	D	+	1	0	PRMT3	20366230	0.994000	0.37717	0.021000	0.16686	0.463000	0.32649	4.425000	0.59875	2.754000	0.94517	0.655000	0.94253	GAT		0.677	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		3	94	0	0	0	1	0	3	94					A	20409654	G	A	20409654	3	1	180	1	0	0	0	0	1	0	0	0	12538	942	33	2	124	2	PRMT3	11	20409654	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	18432061	20409654	114596862	24	3157											
RELT	84957	broad.mit.edu	37	11	73105583	73105583	+	Missense_Mutation	SNP	G	G	A	rs146155880		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:73105583G>A	ENST00000064780.2	+	9	1111	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	RP11-809N8.2_ENST00000544674.1_RNA|RELT_ENST00000393580.2_Missense_Mutation_p.V284M	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	284						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCTCCACACCGTGCAGGGCCT	0.697																																						uc001otv.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(850-852)Gtg>Atg		Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.		G	MET/VAL,MET/VAL	1,4397	2.1+/-5.4	0,1,2198	52	56	55		850,850	5.0	1.0	11	dbSNP_134	55	0,8584		0,0,4292	no	missense,missense	RELT	NM_032871.3,NM_152222.1	21,21	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	284/431,284/431	73105583	1,12981	2199	4292	6491	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105583G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.850G>A	11.37:g.73105583G>A	ENSP00000064780:p.Val284Met		Somatic				RELT_uc001otw.3_Missense_Mutation_p.V284M|RELT_uc001otx.3_Non-coding_Transcript	p.V284M	NM_152222	NP_689408	WXS	Illumina GAIIx	Phase_I	Q969Z4	TR19L_HUMAN			8	1015	+			284					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.850G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679349	0.88542	2.27E-4	0.0	ENSG00000054967	ENST00000064780;ENST00000393580;ENST00000438119	D;D	0.82803	-1.65;-1.65	5.04	5.04	0.67666	.	0.168780	0.41605	D	0.000856	D	0.90150	0.6922	M	0.77313	2.365	0.40414	D	0.979775	D	0.76494	0.999	P	0.61722	0.893	D	0.91745	0.5407	10	0.87932	D	0	-13.6782	17.5517	0.87878	0.0:0.0:1.0:0.0	.	284	Q969Z4	TR19L_HUMAN	M	284;284;152	ENSP00000064780:V284M;ENSP00000377207:V284M	ENSP00000064780:V284M	V	+	1	0	RELT	72783231	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	5.156000	0.64905	2.618000	0.88619	0.655000	0.94253	GTG		0.697	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		4	146	0	0	0	1	0	4	146					A	73105583	G	A	73105583	3	1	180	1	0	0	0	0	1	0	0	0	13221	1145	40	1	880	1	RELT	11	73105583	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08	52695929	73105583	61900933	25	3158											
MSI1	4440	broad.mit.edu	37	12	120794808	120794808	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:120794808T>G	ENST00000257552.2	-	9	637	c.549A>C	c.(547-549)aaA>aaC	p.K183N	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCTGAGCTTTCTTACATT	0.542											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tye.1																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(547-549)aaA>aaC		Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.							110	91	98					12																	120794808		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120794808T>G	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.549A>C	12.37:g.120794808T>G	ENSP00000257552:p.Lys183Asn		Somatic	OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506		p.K183N	NM_002442	NP_002433	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			8	613	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		183			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.549A>C	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.52|18.52	3.641406|3.641406	0.67244|0.67244	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000257552|ENST00000546985	D|D	0.90069|0.90563	-2.61|-2.69	4.1|4.1	4.1|4.1	0.47936|0.47936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.164836|0.164836	0.40222|0.40222	N|N	0.001150|0.001150	D|D	0.92463|0.92463	0.7607|0.7607	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	P|.	0.52061|.	0.95|.	P|.	0.55667|.	0.781|.	D|D	0.92468|0.92468	0.5983|0.5983	10|8	0.87932|0.87932	D|D	0|0	.|.	7.045|7.045	0.25040|0.25040	0.0:0.173:0.0:0.827|0.0:0.173:0.0:0.827	.|.	183|.	O43347|.	MSI1H_HUMAN|.	N|T	183|115	ENSP00000257552:K183N|ENSP00000446710:K115T	ENSP00000257552:K183N|ENSP00000446710:K115T	K|K	-|-	3|2	2|0	MSI1|MSI1	119279191|119279191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	1.226000|1.226000	0.32563|0.32563	2.075000|2.075000	0.62263|0.62263	0.459000|0.459000	0.35465|0.35465	AAA|AAG		0.542	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		9	55	0	0	0	1	0	9	55					G	120794808	T	G	120794808	3	3	180	1	0	0	0	0	1	0	0	0	9875	1606	56	5	563	5	MSI1	12	120794808	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		120794808	13057087	26	3159											
NIN	51199	broad.mit.edu	37	14	51192784	51192784	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr14:51192784C>T	ENST00000382041.3	-	30	6269	c.6079G>A	c.(6079-6081)Gga>Aga	p.G2027R	RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000245441.5_Splice_Site_p.G2027R|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Splice_Site_p.G2027R|NIN_ENST00000382043.4_Splice_Site_p.G1314R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2027					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)					TCCTGGTTTCCCTGAAGGGAA	0.378			T	PDGFRB	MPD																																	uc001wyi.3				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		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.e30-1		Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.							124	109	114					14																	51192784		2203	4300	6503	SO:0001630	splice_region_variant	51199				centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding	g.chr14:51192784C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6079-1G>A	14.37:g.51192784C>T			Somatic				NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.G2027_splice|NIN_uc001wyk.3_Splice_Site_p.G1314_splice	p.G2027_splice	NM_020921	NP_065972	WXS	Illumina GAIIx	Phase_I	Q8N4C6	NIN_HUMAN			30	6270	-	all_epithelial(31;0.00244)|Breast(41;0.127)		2027					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	SNP	ENST00000382041.3	37	c.6079_splice	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.852617|2.852617	0.51270|0.51270	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869|ENST00000245441;ENST00000311149;ENST00000382043;ENST00000324292;ENST00000382041	.|T;T;T	.|0.28895	.|1.59;2.77;3.27	5.93|5.93	4.1|4.1	0.47936|0.47936	.|.	0.613165|0.613165	0.17764|0.17764	N|N	0.162794|0.162794	T|T	0.33059|0.33059	0.0850|0.0850	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|B;B;P;B	.|0.49559	.|0.081;0.029;0.925;0.029	.|B;B;P;B	.|0.46885	.|0.034;0.011;0.53;0.011	T|T	0.04796|0.04796	-1.0926|-1.0926	6|10	.|0.23891	.|T	.|0.37	-1.2052|-1.2052	9.5223|9.5223	0.39143|0.39143	0.0:0.7845:0.0:0.2155|0.0:0.7845:0.0:0.2155	.|.	.|2033;2027;1314;2027	.|Q8N4C6-5;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;NIN_HUMAN;.;.	E|R	1517|2027;2010;1314;2033;2027	.|ENSP00000245441:G2027R;ENSP00000371474:G1314R;ENSP00000371472:G2027R	.|ENSP00000245441:G2027R	G|G	-|-	2|1	0|0	NIN|NIN	50262534|50262534	0.981000|0.981000	0.34729|0.34729	0.981000|0.981000	0.43875|0.43875	0.717000|0.717000	0.41224|0.41224	2.503000|2.503000	0.45407|0.45407	1.515000|1.515000	0.48885|0.48885	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.378	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	Missense_Mutation	19	36	0	0	0	1	0	19	36					T	51192784	C	T	51192784	5	4	180	1	0	0	0	0	0	0	1	0	10417	637	22	2	411	2	NIN	14	51192784	Splice_Site	SNP	C	TCGA-EL-A3GU-01A-11D-A21A-08		51192784	56156756	27	3160											
MED31	51003	broad.mit.edu	37	17	6553677	6553677	+	Splice_Site	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:6553677A>G	ENST00000225728.3	-	2	210	c.105T>C	c.(103-105)aaT>aaC	p.N35N	MED31_ENST00000574128.1_5'UTR|C17orf100_ENST00000391428.2_5'Flank|MED31_ENST00000575197.1_Splice_Site_p.N35N	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	35					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						ACAACTTACAATTAAGGTAAT	0.353																																						uc002gdg.4																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.e2+1		Homo sapiens mediator complex subunit 31 (MED31), mRNA.							118	113	115					17																	6553677		2203	4300	6503	SO:0001630	splice_region_variant	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6553677A>G	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.106+1T>C	17.37:g.6553677A>G			Somatic				MED31_uc002gdh.4_Splice_Site|C17orf100_uc010clp.1_5'Flank	p.F36_splice	NM_016060	NP_057144	WXS	Illumina GAIIx	Phase_I	Q9Y3C7	MED31_HUMAN			2	212	-			36					B2R4L9	Splice_Site	SNP	ENST00000225728.3	37	c.106_splice	CCDS11078.1																																																																																				0.353	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060	Silent	6	185	0	0	0	1	0	6	185					G	6553677	A	G	6553677	5	3	180	1	0	0	0	0	0	0	1	0	9449	115	4	3	302	3	MED31	17	6553677	Splice_Site	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		6553677	74641533	28	3161											
SLC1A6	6511	broad.mit.edu	37	19	15063783	15063783	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:15063783G>A	ENST00000221742.3	-	8	1463	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408S|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P422S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	486					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCTTCCGTGGGCAAGCCGACC	0.612																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1456-1458)Ccc>Tcc		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						195	150	166					19																	15063783		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15063783G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1456C>T	19.37:g.15063783G>A	ENSP00000221742:p.Pro486Ser		Somatic				SLC1A6_uc010dzu.1_Missense_Mutation_p.P408S|SLC1A6_uc010xod.1_Missense_Mutation_p.P422S	p.P486S	NM_005071	NP_005062	WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			7	1463	-			486					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1456C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	-	24.8	4.573036	0.86542	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.68903	-0.36;-0.36	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87145	0.2205	10	0.87932	D	0	-28.1013	14.8789	0.70516	0.0:0.0:1.0:0.0	.	422;486	E7EV13;P48664	.;EAA4_HUMAN	S	422;486	ENSP00000409386:P422S;ENSP00000221742:P486S	ENSP00000221742:P486S	P	-	1	0	SLC1A6	14924783	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.401000	0.97294	2.451000	0.82905	0.446000	0.29264	CCC		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		4	213	0	0	0	1	0	4	213					A	15063783	G	A	15063783	3	1	180	1	0	0	0	0	1	0	0	0	14436	1203	42	2	246	2	SLC1A6	19	15063783	Missense_Mutation	SNP	G	TCGA-EL-A3GU-01A-11D-A21A-08		15063783	44065200	29	3162											
HNF4A	3172	broad.mit.edu	37	20	43043255	43043255	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:43043255T>A	ENST00000316099.4	+	5	690	c.601T>A	c.(601-603)Tgg>Agg	p.W201R	HNF4A_ENST00000316673.4_Missense_Mutation_p.W179R|HNF4A_ENST00000609795.1_Missense_Mutation_p.W179R|HNF4A_ENST00000457232.1_Missense_Mutation_p.W179R|HNF4A_ENST00000415691.2_Missense_Mutation_p.W201R|HNF4A_ENST00000443598.2_Missense_Mutation_p.W201R	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	201					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGTTGAGTGGGCCAAGTA	0.622																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0		p.E200K(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(601-603)Tgg>Agg		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							109	81	91					20																	43043255		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043255T>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.601T>A	20.37:g.43043255T>A	ENSP00000312987:p.Trp201Arg		Somatic				HNF4A_uc002xlt.3_Missense_Mutation_p.W179R|HNF4A_uc002xlu.3_Missense_Mutation_p.W179R|HNF4A_uc002xlv.3_Missense_Mutation_p.W179R|HNF4A_uc002xly.3_Missense_Mutation_p.W201R|HNF4A_uc010ggq.3_Missense_Mutation_p.W194R|HNF4A_uc002xlz.3_Missense_Mutation_p.W201R	p.W201R	NM_000457	NP_000448	WXS	Illumina GAIIx	Phase_I	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	690	+		Myeloproliferative disorder(115;0.0122)	201					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.601T>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729630	0.89390	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99486	1.0949	10	0.87932	D	0	.	16.0671	0.80891	0.0:0.0:0.0:1.0	.	194;201;201;201;179;179;179	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	R	179;179;201;201;231;201	ENSP00000315180:W179R;ENSP00000396216:W179R;ENSP00000312987:W201R;ENSP00000410911:W201R;ENSP00000412111:W201R	ENSP00000312987:W201R	W	+	1	0	HNF4A	42476669	1.000000	0.71417	0.990000	0.47175	0.943000	0.58893	8.040000	0.89188	2.192000	0.70111	0.460000	0.39030	TGG		0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			5	32	0	0	0	1	0	5	32					A	43043255	T	A	43043255	3	1	180	1	0	0	0	0	1	0	0	0	7253	1696	59	5	672	5	HNF4A	20	43043255	Missense_Mutation	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		43043255	19982265	30	3163											
TTC38	55020	broad.mit.edu	37	22	46669963	46669963	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr22:46669963A>G	ENST00000381031.3	+	4	438	c.362A>G	c.(361-363)aAt>aGt	p.N121S	TTC38_ENST00000445282.2_Missense_Mutation_p.N121S	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	121						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACATTTGCCAATGGGTGAGGG	0.632																																						uc003bhi.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(361-363)aAt>aGt		Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.							34	37	36					22																	46669963		2042	4207	6249	SO:0001583	missense	55020						binding	g.chr22:46669963A>G		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"Tetratricopeptide (TTC) repeat domain containing"	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.362A>G	22.37:g.46669963A>G	ENSP00000370419:p.Asn121Ser		Somatic				TTC38_uc011aqx.2_Missense_Mutation_p.N121S	p.N121S	NM_017931	NP_060401	WXS	Illumina GAIIx	Phase_I	Q5R3I4	TTC38_HUMAN			3	438	+			121					Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	c.362A>G	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	A	5.630	0.300929	0.10678	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	T;T;T	0.77098	0.87;-1.07;0.03	5.66	4.61	0.57282	Tetratricopeptide-like helical (1);	0.429217	0.28290	N	0.015887	T	0.60971	0.2310	L	0.29908	0.895	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.15052	0.012;0.004	T	0.49194	-0.8965	10	0.09590	T	0.72	-0.0094	6.7502	0.23483	0.7615:0.1554:0.0831:0.0	.	121;121	E7ES35;Q5R3I4	.;TTC38_HUMAN	S	121	ENSP00000370419:N121S;ENSP00000393960:N121S;ENSP00000410095:N121S	ENSP00000370419:N121S	N	+	2	0	TTC38	45048627	0.972000	0.33761	0.997000	0.53966	0.562000	0.35680	1.898000	0.39809	0.944000	0.37579	0.528000	0.53228	AAT		0.632	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		4	38	0	0	0	1	0	4	38					G	46669963	A	G	46669963	3	3	180	1	0	0	0	0	1	0	0	0	16703	101	4	3	376	3	TTC38	22	46669963	Missense_Mutation	SNP	A	TCGA-EL-A3GU-01A-11D-A21A-08		46669963	4634603	31	3164											
MAGED2	10916	broad.mit.edu	37	X	54841926	54841926	+	Silent	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:54841926T>C	ENST00000375068.1	+	12	1865	c.1632T>C	c.(1630-1632)agT>agC	p.S544S	MAGED2_ENST00000375062.4_Silent_p.S459S|MAGED2_ENST00000218439.4_Silent_p.S544S|MAGED2_ENST00000347546.4_Silent_p.S526S|MAGED2_ENST00000375053.2_Silent_p.S544S|MAGED2_ENST00000396224.1_Silent_p.S544S|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375060.1_Silent_p.S459S|MAGED2_ENST00000375058.1_Silent_p.S544S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	544						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CCCAAGAGAGTGGcagtgcca	0.617																																						uc004dtk.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1630-1632)agT>agC		Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.							30	25	27					X																	54841926		2196	4296	6492	SO:0001819	synonymous_variant	10916							g.chrX:54841926T>C	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1632T>C	X.37:g.54841926T>C			Somatic				MAGED2_uc004dtl.1_Silent_p.S544S|MAGED2_uc004dtm.1_Silent_p.S459S|MAGED2_uc004dtn.1_Silent_p.S544S|MAGED2_uc004dto.1_Silent_p.S518S	p.S544S	NM_177433	NP_957516	WXS	Illumina GAIIx	Phase_I	Q9UNF1	MAGD2_HUMAN			11	1726	+			544					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Silent	SNP	ENST00000375068.1	37	c.1632T>C	CCDS14362.1																																																																																				0.617	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		4	11	0	0	0	1	0	4	11					C	54841926	T	C	54841926	2	2	180	1	0	0	0	0	0	0	0	1	9184	1693	59	3		3	MAGED2	23	54841926	Silent	SNP	T	TCGA-EL-A3GU-01A-11D-A21A-08		54841926	100428634	32	3165											
C1QA	712	broad.mit.edu	37	1	22965379	22965379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:22965379delC	ENST00000374642.3	+	3	421	c.217delC	c.(217-219)cctfs	p.P73fs	C1QA_ENST00000402322.1_Frame_Shift_Del_p.P73fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	73	Collagen-like.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGAACCTGGGCCCTC	0.647																																						uc001bfy.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(217-219)cctfs		Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	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)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						7	9	8					1																	22965379		2160	4265	6425	SO:0001589	frameshift_variant	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965379delC	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.217delC	1.37:g.22965379delC	ENSP00000363773:p.Pro73fs		Somatic					p.P73fs	NM_015991	NP_057075	WXS	Illumina GAIIx	Phase_I	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	302	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	73			Collagen-like.		B2R4X2|Q5T963	Frame_Shift_Del	DEL	ENST00000374642.3	37	c.217delC	CCDS226.1																																																																																				0.647	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		2	4						2	4	---	---	---	---	-	22965379	C	-	22965379	7	5	181	1	0	1	0	1	0	0	0	0	1954	507	18	0	223	0	C1QA	1	22965379	Frame_Shift_Del	DEL	C	TCGA-EL-A3GV-01A-11D-A21A-08		22965379	226285242	1	3166											
IRAK2	3656	broad.mit.edu	37	3	10258686	10258686	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:10258686A>G	ENST00000256458.4	+	7	947	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	RNU6-814P_ENST00000410416.1_RNA	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|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)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGCTTCATCTACCCCTACATG	0.567																																						uc003bve.1																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(856-858)tAc>tGc		Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.							173	141	152					3																	10258686		2203	4300	6503	SO:0001583	missense	3656				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10258686A>G	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.857A>G	3.37:g.10258686A>G	ENSP00000256458:p.Tyr286Cys		Somatic					p.Y286C	NM_001570	NP_001561	WXS	Illumina GAIIx	Phase_I	O43187	IRAK2_HUMAN			6	933	+			286			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.857A>G	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.526086	0.64860	.	.	ENSG00000134070	ENST00000256458	T	0.36699	1.24	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.648008	0.14371	N	0.323781	T	0.65565	0.2703	M	0.90483	3.12	0.50313	D	0.999863	D	0.76494	0.999	D	0.66847	0.947	T	0.70432	-0.4873	10	0.87932	D	0	-13.7169	12.1662	0.54131	1.0:0.0:0.0:0.0	.	286	O43187	IRAK2_HUMAN	C	286	ENSP00000256458:Y286C	ENSP00000256458:Y286C	Y	+	2	0	IRAK2	10233686	1.000000	0.71417	0.907000	0.35723	0.799000	0.45148	5.101000	0.64566	2.120000	0.65058	0.459000	0.35465	TAC		0.567	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			4	141	0	0	0	1	0	4	141					G	10258686	A	G	10258686	3	3	181	1	0	0	0	0	1	0	0	0	7823	391	14	3	883	3	IRAK2	3	10258686	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		10258686	187763744	2	3167											
SLC6A20	54716	broad.mit.edu	37	3	45812903	45812903	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:45812903C>A	ENST00000358525.4	-	6	856	c.741G>T	c.(739-741)caG>caT	p.Q247H	SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q210H|SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q247H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	247					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGAAGAAGATCTGGGTGGCTG	0.587																																						uc011bai.2																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(739-741)caG>caT		Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.							141	119	126					3																	45812903		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812903C>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.741G>T	3.37:g.45812903C>A	ENSP00000346298:p.Gln247His		Somatic				SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.Q210H	p.Q247H	NM_020208	NP_064593	WXS	Illumina GAIIx	Phase_I	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	5	865	-			247					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.741G>T	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910872	0.72983	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.05	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.91270	0.7248	M	0.92507	3.315	0.47862	D	0.999539	D;D	0.57899	0.976;0.981	D;D	0.69307	0.938;0.963	D	0.91132	0.4938	10	0.87932	D	0	.	8.2403	0.31656	0.0:0.7581:0.0:0.2419	.	210;247	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	H	210;247;247;200	ENSP00000296133:Q210H;ENSP00000346298:Q247H;ENSP00000404310:Q247H;ENSP00000395506:Q200H	ENSP00000296133:Q210H	Q	-	3	2	SLC6A20	45787907	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.075000	0.57584	1.118000	0.41863	0.467000	0.42956	CAG		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	62	0	0	0	1	0	4	62					A	45812903	C	A	45812903	3	1	181	1	0	0	0	0	1	0	0	0	14684	912	32	4	1061	4	SLC6A20	3	45812903	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	35554217	45812903	152209527	3	3168											
SKIL	6498	broad.mit.edu	37	3	170078419	170078419	+	Silent	SNP	G	G	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:170078419G>T	ENST00000458537.3	+	1	1009	c.300G>T	c.(298-300)tcG>tcT	p.S100S	SKIL_ENST00000259119.4_Silent_p.S100S|SKIL_ENST00000413427.2_Silent_p.S100S|SKIL_ENST00000426052.2_Silent_p.S80S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	100					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTCAGAGCTCGCTGGGTGGAC	0.463																																						uc003fgu.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(298-300)tcG>tcT		Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.							147	153	151					3																	170078419		2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078419G>T	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.300G>T	3.37:g.170078419G>T			Somatic				SKIL_uc011bps.2_Silent_p.S80S|SKIL_uc003fgv.3_Silent_p.S100S|SKIL_uc003fgw.3_Silent_p.S100S	p.S100S	NM_005414	NP_005405	WXS	Illumina GAIIx	Phase_I	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1012	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		100					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.300G>T	CCDS33890.1																																																																																				0.463	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		4	167	0	0	0	1	0	4	167					T	170078419	G	T	170078419	2	4	181	1	0	0	0	0	0	0	0	1	14358	1074	38	4		4	SKIL	3	170078419	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	124265516	170078419	27944011	4	3169											
TDO2	6999	broad.mit.edu	37	4	156828925	156828925	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:156828925A>C	ENST00000536354.2	+	4	348	c.284A>C	c.(283-285)gAg>gCg	p.E95A		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TCTGTTCGAGAGATCTTTCAG	0.338																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(283-285)gAg>gCg		Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	L-Tryptophan(DB00150)						149	149	149					4																	156828925		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156828925A>C		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.284A>C	4.37:g.156828925A>C	ENSP00000444788:p.Glu95Ala		Somatic					p.E95A	NM_005651	NP_005642	WXS	Illumina GAIIx	Phase_I	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	3	348	+	all_hematologic(180;0.24)	Renal(120;0.0854)	95						Missense_Mutation	SNP	ENST00000536354.2	37	c.284A>C	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523090	0.44866	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.98	5.98	0.97165	.	0.243755	0.47093	D	0.000252	T	0.47377	0.1442	L	0.39898	1.24	0.46823	D	0.999217	B	0.18863	0.031	B	0.17979	0.02	T	0.39440	-0.9614	9	0.26408	T	0.33	-18.9772	11.306	0.49336	0.8323:0.0:0.0:0.1677	.	95	P48775	T23O_HUMAN	A	95	.	ENSP00000281525:E95A	E	+	2	0	TDO2	157048375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.665000	0.68052	2.288000	0.76882	0.528000	0.53228	GAG		0.338	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		3	73	0	0	0	1	0	3	73					C	156828925	A	C	156828925	3	2	181	1	0	0	0	0	1	0	0	0	15724	304	11	5	298	5	TDO2	4	156828925	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		156828925	34325351	5	3170											
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:189068456C>A	ENST00000332517.3	+	6	1477	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	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)		CCTATCTTTTCCCCCTGCCTC	0.562																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0		p.F445I(1)		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.(1336-1338)tCc>tAc		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							70	72	72					4																	189068456		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068456C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1337C>A	4.37:g.189068456C>A	ENSP00000327738:p.Ser446Tyr		Somatic				TRIML1_uc003izn.1_Missense_Mutation_p.S170Y	p.S446Y	NM_178556	NP_848651	WXS	Illumina GAIIx	Phase_I	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)	5	1452	+		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)	446			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1337C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195996	0.38806	.	.	ENSG00000184108	ENST00000332517	T	0.70749	-0.51	5.58	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.51477	D	0.000092	T	0.66025	0.2748	L	0.61218	1.895	0.37068	D	0.898406	B	0.24618	0.107	B	0.26770	0.073	T	0.64630	-0.6362	10	0.12430	T	0.62	-25.2532	13.961	0.64180	0.1529:0.8471:0.0:0.0	.	446	Q8N9V2	TRIML_HUMAN	Y	446	ENSP00000327738:S446Y	ENSP00000327738:S446Y	S	+	2	0	TRIML1	189305450	0.205000	0.23458	0.971000	0.41717	0.012000	0.07955	1.202000	0.32271	1.501000	0.48654	-0.194000	0.12790	TCC		0.562	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		9	94	0	0	0	1	0	9	94					A	189068456	C	A	189068456	3	1	181	1	0	0	0	0	1	0	0	0	16547	855	30	4	1359	4	TRIML1	4	189068456	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	32239531	189068456	2085820	6	3171											
GMDS	2762	broad.mit.edu	37	6	2117711	2117711	+	Missense_Mutation	SNP	A	A	G	rs369492511		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:2117711A>G	ENST00000380815.4	-	3	496	c.227T>C	c.(226-228)aTt>aCt	p.I76T	GMDS_ENST00000530927.1_Missense_Mutation_p.I46T	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	76					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACTTCCTTCAATGTGAGCCTG	0.373																																						uc003mtq.3																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(226-228)aTt>aCt		Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.		A	THR/ILE	0,4406		0,0,2203	128	129	129		227	1.7	1.0	6		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	GMDS	NM_001500.2	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	76/373	2117711	1,13005	2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding	g.chr6:2117711A>G	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.227T>C	6.37:g.2117711A>G	ENSP00000370194:p.Ile76Thr		Somatic				GMDS_uc021ykn.1_Missense_Mutation_p.I46T	p.I76T	NM_001500	NP_001491	WXS	Illumina GAIIx	Phase_I	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	2	439	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	76					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.227T>C	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	A	7.364	0.625397	0.14257	0.0	1.16E-4	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.41	1.7	0.24286	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.238504	0.40908	N	0.000987	T	0.10165	0.0249	N	0.08118	0	0.41904	D	0.990436	B	0.02656	0.0	B	0.11329	0.006	T	0.14420	-1.0473	9	0.12766	T	0.61	-14.6666	6.3923	0.21593	0.7268:0.1335:0.1397:0.0	.	76	O60547	GMDS_HUMAN	T	46;76	.	ENSP00000370194:I76T	I	-	2	0	GMDS	2062710	0.005000	0.15991	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.054000	0.16065	0.533000	0.62120	ATT		0.373	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			6	68	0	0	0	1	0	6	68					G	2117711	A	G	2117711	3	3	181	1	0	0	0	0	1	0	0	0	6486	101	4	3	927	3	GMDS	6	2117711	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		2117711	168997356	7	3172											
UNC93A	54346	broad.mit.edu	37	6	167728844	167728844	+	Silent	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:167728844G>A	ENST00000230256.3	+	8	1453	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	UNC93A_ENST00000366829.2_Silent_p.G384G	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	426						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCGTATGGGCTTGTGGAGT	0.542																																						uc003qvq.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1276-1278)ggG>ggA		Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.							219	239	232					6																	167728844		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167728844G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1278G>A	6.37:g.167728844G>A			Somatic				UNC93A_uc003qvr.3_Silent_p.G384G	p.G426G	NM_018974	NP_061847	WXS	Illumina GAIIx	Phase_I	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	7	1453	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	426					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.1278G>A	CCDS5300.1																																																																																				0.542	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		14	304	0	0	0	1	0	14	304					A	167728844	G	A	167728844	2	1	181	1	0	0	0	0	0	0	0	1	16993	1190	42	2		2	UNC93A	6	167728844	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	165611133	167728844	3386223	8	3173											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		44	37	0	0	0	1	0	44	37					T	140453136	A	T	140453136	3	4	181	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		140453136	18685527	9	3174											
EPB49	2039	broad.mit.edu	37	8	21924655	21924655	+	Silent	SNP	T	T	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:21924655T>G	ENST00000523266.1	+	3	540	c.78T>G	c.(76-78)tcT>tcG	p.S26S	DMTN_ENST00000265800.5_Silent_p.S26S|DMTN_ENST00000432128.1_Silent_p.S26S|DMTN_ENST00000415253.1_Silent_p.S26S|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000519907.1_Silent_p.S26S|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000358242.3_Silent_p.S26S|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Silent_p.S26S	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	26					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TGCCTGGCTCTCCCTCCAGCA	0.697																																						uc022asw.1																			0				central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10						c.(76-78)tcT>tcG		Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.							32	32	32					8																	21924655		2198	4299	6497	SO:0001819	synonymous_variant	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21924655T>G	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.78T>G	8.37:g.21924655T>G			Somatic				EPB49_uc022asq.1_Silent_p.S26S|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Silent_p.S26S|EPB49_uc022ass.1_Intron|EPB49_uc022ast.1_Silent_p.S26S|EPB49_uc022asu.1_Silent_p.S26S|EPB49_uc022asv.1_Silent_p.S26S|EPB49_uc022asx.1_Silent_p.S26S|EPB49_uc022asy.1_Intron	p.S26S	NM_001978	NP_001969	WXS	Illumina GAIIx	Phase_I	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	1	116	+			26					A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	c.78T>G	CCDS6020.1																																																																																				0.697	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		3	89	0	0	0	1	0	3	89					G	21924655	T	G	21924655	2	3	181	1	0	0	0	0	0	0	0	1	5159	1538	54	5		5	EPB49	8	21924655	Silent	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		21924655	124439367	10	3175											
FAM83H	286077	broad.mit.edu	37	8	144811136	144811136	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:144811136C>T	ENST00000388913.3	-	4	863		c.e4+1			NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H						biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGCGGGCGCACCTGTAGCTCC	0.657																																						uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.e4+1		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							57	69	65					8																	144811136		2080	4203	6283	SO:0001630	splice_region_variant	286077				biomineral tissue development			g.chr8:144811136C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.737+1G>A	8.37:g.144811136C>T			Somatic					p.S246_splice	NM_198488	NP_940890	WXS	Illumina GAIIx	Phase_I	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	806	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		246					A0JLS2|Q8N4W0	Splice_Site	SNP	ENST00000388913.3	37	c.737_splice	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335140	0.81801	.	.	ENSG00000180921	ENST00000388913	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0821	0.86601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM83H	144883124	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.894000	0.69806	2.333000	0.79357	0.555000	0.69702	.		0.657	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	Intron	4	147	0	0	0	1	0	4	147					T	144811136	C	T	144811136	5	4	181	1	0	0	0	0	0	0	1	0	5640	521	18	2	2809	2	FAM83H	8	144811136	Splice_Site	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	122886481	144811136	1552886	11	3176											
KIF27	55582	broad.mit.edu	37	9	86474101	86474101	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:86474101T>A	ENST00000297814.2	-	14	3263	c.3120A>T	c.(3118-3120)aaA>aaT	p.K1040N	RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K943N|KIF27_ENST00000413982.1_Missense_Mutation_p.K974N|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1040					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATTTTTAAGTTTTTCATCCA	0.398																																						uc004ana.3																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3118-3120)aaA>aaT		Homo sapiens kinesin family member 27 (KIF27), mRNA.							192	166	175					9																	86474101		2202	4300	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86474101T>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3120A>T	9.37:g.86474101T>A	ENSP00000297814:p.Lys1040Asn		Somatic				KIF27_uc010mpw.3_Missense_Mutation_p.K974N|KIF27_uc010mpx.3_Missense_Mutation_p.K943N	p.K1040N	NM_017576	NP_060046	WXS	Illumina GAIIx	Phase_I	Q86VH2	KIF27_HUMAN			13	3264	-			1040					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3120A>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688574	0.48097	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.77358	-1.09;-1.03;-0.73	4.5	3.36	0.38483	.	0.101468	0.41001	D	0.000978	D	0.83280	0.5220	M	0.66939	2.045	0.30779	N	0.742158	D;D;D	0.63880	0.992;0.993;0.986	P;D;P	0.70016	0.847;0.967;0.638	T	0.80018	-0.1558	10	0.51188	T	0.08	.	6.9211	0.24389	0.0:0.1827:0.0:0.8172	.	943;974;1040	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	1040;974;943	ENSP00000297814:K1040N;ENSP00000401688:K974N;ENSP00000333928:K943N	ENSP00000297814:K1040N	K	-	3	2	KIF27	85663921	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.174000	0.31932	0.771000	0.33359	0.402000	0.26972	AAA		0.398	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		4	71	0	0	0	1	0	4	71					A	86474101	T	A	86474101	3	1	181	1	0	0	0	0	1	0	0	0	8296	1722	60	5	1105	5	KIF27	9	86474101	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		86474101	54739330	12	3177											
OR1N2	138882	broad.mit.edu	37	9	125316381	125316381	+	Missense_Mutation	SNP	C	C	A	rs369499080		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:125316381C>A	ENST00000373688.2	+	1	991	c.933C>A	c.(931-933)aaC>aaA	p.N311K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGAGGAACAGAGACATGA	0.403																																						uc011lyx.2																			0		p.R310R(2)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(931-933)aaC>aaA		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							109	110	110					9																	125316381		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316381C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.933C>A	9.37:g.125316381C>A	ENSP00000362792:p.Asn311Lys		Somatic					p.N311K	NM_001004457	NP_001004457	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			0	933	+			311					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.933C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074526	0.55646	.	.	ENSG00000171501	ENST00000373688	T	0.50001	0.76	4.56	1.68	0.24146	.	0.123171	0.35772	N	0.002985	T	0.73621	0.3610	H	0.96048	3.76	0.34714	D	0.728078	D	0.89917	1.0	D	0.87578	0.998	T	0.78700	-0.2102	10	0.87932	D	0	.	7.5228	0.27637	0.0:0.6463:0.0:0.3537	.	311	Q8NGR9	OR1N2_HUMAN	K	311	ENSP00000362792:N311K	ENSP00000362792:N311K	N	+	3	2	OR1N2	124356202	0.041000	0.20044	0.998000	0.56505	0.998000	0.95712	0.165000	0.16564	0.181000	0.19994	0.644000	0.83932	AAC		0.403	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			4	54	0	0	0	1	0	4	54					A	125316381	C	A	125316381	3	1	181	1	0	0	0	0	1	0	0	0	10970	477	17	4	935	4	OR1N2	9	125316381	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08	38842280	125316381	15897050	13	3178											
FZD10	11211	broad.mit.edu	37	12	130647501	130647502	+	Frame_Shift_Ins	INS	-	-	C	rs549279147	byFrequency	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr12:130647501_130647502insC	ENST00000229030.4	+	1	498_499	c.14_15insC	c.(13-18)ggccccfs	p.GP5fs	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_5'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	5					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGCGCCCGGGCCCCCGCCTGT	0.743																																						uc001uii.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(13-15)ggcfs		Homo sapiens frizzled family receptor 10 (FZD10), mRNA.																																				SO:0001589	frameshift_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647501_130647502insC	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.19dupC	12.37:g.130647506_130647506dupC	ENSP00000229030:p.Gly5fs		Somatic				FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	p.G5fs	NM_007197	NP_009128	WXS	Illumina GAIIx	Phase_I	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	0	498_499	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		5						Frame_Shift_Ins	INS	ENST00000229030.4	37	c.14_15insC	CCDS9267.1																																																																																				0.743	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	6						3	6	---	---	---	---	C	130647502	-	C	130647501	7	5	181	1	0	1	1	0	0	0	0	0	6129	1203	42	0	16	0	FZD10	12	130647501	Frame_Shift_Ins	INS	-	TCGA-EL-A3GV-01A-11D-A21A-08		130647501	3204394	14	3179											
GOLGA5	9950	broad.mit.edu	37	14	93303788	93303788	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr14:93303788A>G	ENST00000163416.2	+	12	2365	c.2109A>G	c.(2107-2109)atA>atG	p.I703M	GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	703					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTGTAATTATATATATGGTAA	0.353			T	RET	papillary thyroid																																	uc001yaz.1				Dom	yes		14	14q	9950	T	"golgi autoantigen, golgin subfamily a, 5  (PTC5)"			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(2107-2109)atA>atG		Homo sapiens golgin A5 (GOLGA5), mRNA.							80	92	88					14																	93303788		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity	g.chr14:93303788A>G	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"golgi integral membrane protein 5"	606918	"golgi autoantigen, golgin subfamily a, 5"			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2109A>G	14.37:g.93303788A>G	ENSP00000163416:p.Ile703Met		Somatic				GOLGA5_uc001yba.1_Intron	p.I703M	NM_005113	NP_005104	WXS	Illumina GAIIx	Phase_I	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	11	2291	+		all_cancers(154;0.0934)	703					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.2109A>G	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.119798	0.56613	.	.	ENSG00000066455	ENST00000163416;ENST00000439315	T	0.48201	0.82	5.4	1.57	0.23409	.	0.000000	0.51477	D	0.000099	T	0.58293	0.2112	M	0.70275	2.135	0.80722	D	1	D	0.57899	0.981	P	0.62298	0.9	T	0.55173	-0.8182	10	0.66056	D	0.02	-14.5298	6.252	0.20852	0.3641:0.402:0.0:0.2339	.	703	Q8TBA6	GOGA5_HUMAN	M	703;612	ENSP00000163416:I703M	ENSP00000163416:I703M	I	+	3	3	GOLGA5	92373541	0.983000	0.35010	0.996000	0.52242	0.995000	0.86356	0.155000	0.16362	0.014000	0.14944	0.528000	0.53228	ATA		0.353	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			11	155	0	0	0	1	0	11	155					G	93303788	A	G	93303788	3	3	181	1	0	0	0	0	1	0	0	0	6556	439	16	3	2151	3	GOLGA5	14	93303788	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		93303788	14045752	15	3180											
SLC28A2	9153	broad.mit.edu	37	15	45545719	45545719	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr15:45545719G>C	ENST00000347644.3	+	3	235		c.e3+1		CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000559003.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CTTACCAGAGGTACTGGTGTT	0.522																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.e3+1		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.							64	60	61					15																	45545719		2198	4298	6496	SO:0001630	splice_region_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45545719G>C	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"Solute carriers"	11002	protein-coding gene	gene with protein product		606208	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.170+1G>C	15.37:g.45545719G>C			Somatic					p.R57_splice	NM_004212	NP_004203	WXS	Illumina GAIIx	Phase_I	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	3	235	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	57					A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37	c.170_splice	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959677	0.34565	.	.	ENSG00000137860	ENST00000347644	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.177	0.59633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A2	43333011	0.995000	0.38212	0.711000	0.30485	0.008000	0.06430	3.525000	0.53502	2.472000	0.83506	0.462000	0.41574	.		0.522	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Intron	3	17	0	0	0	1	0	3	17					C	45545719	G	C	45545719	5	2	181	1	0	0	0	0	0	0	1	0	14532	1275	44	4	177	4	SLC28A2	15	45545719	Splice_Site	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		45545719	56985673	16	3181											
CNGB1	1258	broad.mit.edu	37	16	57938657	57938657	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr16:57938657A>G	ENST00000251102.8	-	26	2675	c.2615T>C	c.(2614-2616)tTc>tCc	p.F872S	CNGB1_ENST00000564448.1_Missense_Mutation_p.F866S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	872					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CATCACAGAGAAAGCAAAGAC	0.567																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2614-2616)tTc>tCc		Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.							104	112	110					16																	57938657		1879	4089	5968	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938657A>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2615T>C	16.37:g.57938657A>G	ENSP00000251102:p.Phe872Ser		Somatic				CNGB1_uc010cdh.2_Missense_Mutation_p.F866S	p.F872S	NM_001297	NP_001288	WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			25	2680	-			872					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2615T>C	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606081	0.87157	.	.	ENSG00000070729	ENST00000251102	D	0.97870	-4.58	5.06	5.06	0.68205	.	0.059725	0.64402	D	0.000002	D	0.98670	0.9554	M	0.86953	2.85	0.80722	D	1	D;P	0.65815	0.995;0.879	D;P	0.69654	0.965;0.695	D	0.99585	1.0974	10	0.66056	D	0.02	.	14.3064	0.66386	1.0:0.0:0.0:0.0	.	244;872	Q14028-2;Q14028	.;CNGB1_HUMAN	S	872	ENSP00000251102:F872S	ENSP00000251102:F872S	F	-	2	0	CNGB1	56496158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.336000	0.96533	2.037000	0.60232	0.533000	0.62120	TTC		0.567	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	158	0	0	0	1	0	7	158					G	57938657	A	G	57938657	3	3	181	1	0	0	0	0	1	0	0	0	3600	246	9	3	1172	3	CNGB1	16	57938657	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08		57938657	32416096	17	3182											
MYO15A	51168	broad.mit.edu	37	17	18022790	18022790	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:18022790C>T	ENST00000205890.5	+	2	1014	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	226					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)					GCTGTACGGGCTTGAGGGCTT	0.642																																						uc021trm.1																			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.(676-678)Ctt>Ttt		Homo sapiens myosin XVA (MYO15A), mRNA.							38	42	41					17																	18022790		2076	4200	6276	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18022790C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.676C>T	17.37:g.18022790C>T	ENSP00000205890:p.Leu226Phe		Somatic				MYO15A_uc021trl.1_Missense_Mutation_p.L226F	p.L226F	NM_016239	NP_057323	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			0	895	+	all_neural(463;0.228)		226			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.676C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100148	0.56183	.	.	ENSG00000091536	ENST00000205890	D	0.90732	-2.72	5.52	4.54	0.55810	.	.	.	.	.	D	0.90669	0.7073	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.88794	0.3280	9	0.33940	T	0.23	.	12.616	0.56578	0.0:0.9168:0.0:0.0832	.	226	Q9UKN7	MYO15_HUMAN	F	226	ENSP00000205890:L226F	ENSP00000205890:L226F	L	+	1	0	MYO15A	17963515	0.745000	0.28261	0.976000	0.42696	0.582000	0.36321	1.857000	0.39399	2.584000	0.87258	0.555000	0.69702	CTT		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	65	0	0	0	1	0	5	65					T	18022790	C	T	18022790	3	4	181	1	0	0	0	0	1	0	0	0	10063	797	28	2	678	2	MYO15A	17	18022790	Missense_Mutation	SNP	C	TCGA-EL-A3GV-01A-11D-A21A-08		18022790	63172420	18	3183											
NF1	4763	broad.mit.edu	37	17	29588854	29588854	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:29588854A>G	ENST00000358273.4	+	35	5086	c.4703A>G	c.(4702-4704)aAg>aGg	p.K1568R	NF1_ENST00000356175.3_Missense_Mutation_p.K1547R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1568					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAGTTCAAAGTTTGAGGAA	0.428			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)|p.S1567*(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4702-4704)aAg>aGg		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							76	70	72					17																	29588854		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	g.chr17:29588854A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4703A>G	17.37:g.29588854A>G	ENSP00000351015:p.Lys1568Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_uc002hgh.3_Missense_Mutation_p.K1547R|NF1_uc002hgi.1_Missense_Mutation_p.K580R	p.K1568R	NM_001042492	NP_001035957	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	34	5086	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1568					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4703A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247929	0.39697	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.08984	3.18;3.33;3.03	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.13243	0.0321	N	0.11870	0.19	0.80722	D	1	B;D;B	0.56035	0.004;0.974;0.013	B;D;B	0.70487	0.002;0.969;0.014	T	0.44050	-0.9353	10	0.14656	T	0.56	.	16.1946	0.82018	1.0:0.0:0.0:0.0	.	597;1547;1568	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1568;1547;1213	ENSP00000351015:K1568R;ENSP00000348498:K1547R;ENSP00000389907:K1213R	ENSP00000348498:K1547R	K	+	2	0	NF1	26612980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.697000	0.91307	2.228000	0.72767	0.528000	0.53228	AAG		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	55	0	0	0	1	0	4	55					G	29588854	A	G	29588854	3	3	181	1	0	0	0	0	1	0	0	0	10356	72	3	3	4902	3	NF1	17	29588854	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08	11566064	29588854	51606356	19	3184											
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552																																						uc010wzk.2																			1	Substitution - coding silent(1)	p.A176A(2)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(526-528)gcG>gcA		Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.							96	103	100					18																	7231664		2112	4226	6338	SO:0001819	synonymous_variant	339291							g.chr18:7231664G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.528G>A	18.37:g.7231664G>A			Somatic					p.A176A	NM_001105581	NP_001099051	WXS	Illumina GAIIx	Phase_I	A6NM36	LRC30_HUMAN			0	528	+			176						Silent	SNP	ENST00000383467.2	37	c.528G>A	CCDS42409.1																																																																																				0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		8	133	0	0	0	1	0	8	133					A	7231664	G	A	7231664	2	1	181	1	0	0	0	0	0	0	0	1	8985	1074	38	1		1	LRRC30	18	7231664	Silent	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		7231664	70845584	20	3185											
CEP192	55125	broad.mit.edu	37	18	13042296	13042296	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:13042296A>G	ENST00000325971.8	+	13	1835	c.242A>G	c.(241-243)aAt>aGt	p.N81S	CEP192_ENST00000430049.2_Missense_Mutation_p.N202S|CEP192_ENST00000506447.1_Missense_Mutation_p.N677S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	81					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						GTGGATGAAAATGATGTGACG	0.403																																						uc010xac.2																			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.(2029-2031)aAt>aGt		Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.							98	86	90					18																	13042296		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13042296A>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.242A>G	18.37:g.13042296A>G	ENSP00000317156:p.Asn81Ser		Somatic				CEP192_uc010dlf.1_Intron|CEP192_uc010xad.2_Missense_Mutation_p.N202S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Missense_Mutation_p.N418S	p.N677S	NM_032142	NP_115518	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			14	2110	+			272					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2030A>G		.	.	.	.	.	.	.	.	.	.	A	0.358	-0.940805	0.02322	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.06849	3.26;3.25;3.26	4.43	-3.99	0.04069	.	1.332350	0.05166	N	0.498825	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.13407	0.0;0.001;0.009	T	0.46247	-0.9205	10	0.06625	T	0.88	-1.2743	11.8515	0.52413	0.3325:0.0:0.6675:0.0	.	202;677;81	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	677;81;81;202	ENSP00000427550:N677S;ENSP00000317156:N81S;ENSP00000389190:N202S	ENSP00000317156:N81S	N	+	2	0	CEP192	13032296	0.357000	0.24938	0.034000	0.17996	0.018000	0.09664	-0.255000	0.08769	-0.862000	0.04089	-0.379000	0.06801	AAT		0.403	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		5	67	0	0	0	1	0	5	67					G	13042296	A	G	13042296	3	3	181	1	0	0	0	0	1	0	0	0	3251	101	4	3	2084	3	CEP192	18	13042296	Missense_Mutation	SNP	A	TCGA-EL-A3GV-01A-11D-A21A-08	5810632	13042296	65034952	21	3186											
SAMD1	646457	broad.mit.edu	37	19	14199324	14199324	+	5'Flank	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:14199324G>A	ENST00000548523.1	-	0	0				SAMD1_ENST00000533683.2_Missense_Mutation_p.R402C|C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_001277378.1	NP_001264307.1	A6NJJ6	CS067_HUMAN	chromosome 19 open reading frame 67											central_nervous_system(1)	1						GGCCCGAGGCGGATGGACAGG	0.577																																						uc010xnl.2																			0				endometrium(3)	3						c.(1204-1206)Cgc>Tgc		Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.							58	64	62					19																	14199324		2043	4169	6212	SO:0001631	upstream_gene_variant	90378					cytoplasm|extracellular region		g.chr19:14199324G>A		CCDS59360.1	19p13.12	2008-07-02			ENSG00000188032	ENSG00000188032			34354	protein-coding gene	gene with protein product							Standard	NM_001277378		Approved		uc031rjr.1	A6NJJ6			19.37:g.14199324G>A	Exception_encountered		Somatic					p.R402C	NM_138352	NP_612361	WXS	Illumina GAIIx	Phase_I	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	5	1204	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	508						Missense_Mutation	SNP	ENST00000548523.1	37	c.1204C>T	CCDS59360.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502359	0.44455	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T;T	0.50813	0.73;0.73	4.48	2.34	0.29019	.	0.000000	0.64402	D	0.000001	T	0.53722	0.1814	L	0.40543	1.245	0.48696	D	0.999691	D	0.89917	1.0	D	0.83275	0.996	T	0.52351	-0.8587	10	0.87932	D	0	-9.0353	6.5325	0.22334	0.2208:0.0:0.7792:0.0	.	402	E9PIW9	.	C	402;102	ENSP00000431971:R402C;ENSP00000269724:R102C	ENSP00000269724:R102C	R	-	1	0	SAMD1	14060324	1.000000	0.71417	0.999000	0.59377	0.504000	0.33889	2.551000	0.45820	0.511000	0.28236	0.557000	0.71058	CGC		0.577	C19orf67-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403368.1	XM_929382		3	35	0	0	0	1	0	3	35					A	14199324	G	A	14199324	1	1	181	0	1	0	0	0	0	0	0	0	13814	1116	39	1		1	SAMD1	19	14199324	5'Flank	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08		14199324	44929659	22	3187											
RYR1	6261	broad.mit.edu	37	19	38976750	38976750	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:38976750G>A	ENST00000359596.3	+	34	5455	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_ENST00000355481.4_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1819	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)	GGGGGAGGCGGTGCGCGACGG	0.706																																						uc002oit.3																			0		p.A1818G(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.(5455-5457)Gtg>Atg		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						57	55	56					19																	38976750		2201	4293	6494	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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.chr19:38976750G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5455G>A	19.37:g.38976750G>A	ENSP00000352608:p.Val1819Met		Somatic				RYR1_uc002oiu.3_Missense_Mutation_p.V1819M	p.V1819M	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		33	5585	+	all_cancers(60;7.91e-06)		1819			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5455G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362717	0.61403	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.75050	-0.9;-0.9;-0.9	3.7	3.7	0.42460	.	0.000000	0.56097	U	0.000025	D	0.84933	0.5582	M	0.73962	2.25	0.48830	D	0.999717	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	D	0.86575	0.1850	10	0.52906	T	0.07	.	15.2171	0.73277	0.0:0.0:1.0:0.0	.	1819;1819	P21817-2;P21817	.;RYR1_HUMAN	M	1819	ENSP00000352608:V1819M;ENSP00000347667:V1819M;ENSP00000354254:V1819M	ENSP00000347667:V1819M	V	+	1	0	RYR1	43668590	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	9.556000	0.98127	1.886000	0.54624	0.585000	0.79938	GTG		0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	123	0	0	0	1	0	4	123					A	38976750	G	A	38976750	3	1	181	1	0	0	0	0	1	0	0	0	13768	1261	44	2	5589	2	RYR1	19	38976750	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	24777426	38976750	20152233	23	3188											
BRSK1	84446	broad.mit.edu	37	19	55798597	55798597	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:55798597G>A	ENST00000309383.1	+	3	524	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	BRSK1_ENST00000590333.1_Missense_Mutation_p.A99T|BRSK1_ENST00000585418.1_Missense_Mutation_p.A83T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCGGGAGATCGCCATCCTGAA	0.607																																						uc002qkf.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(295-297)Gcc>Acc		Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.							145	130	135					19																	55798597		2203	4300	6503	SO:0001583	missense	84446				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55798597G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.247G>A	19.37:g.55798597G>A	ENSP00000310649:p.Ala83Thr		Somatic				BRSK1_uc021vbs.1_Missense_Mutation_p.A83T|BRSK1_uc002qkg.3_Missense_Mutation_p.A83T	p.A99T	NM_032430	NP_115806	WXS	Illumina GAIIx	Phase_I	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	4	422	+		Renal(1328;0.245)	83			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.295G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.477996	0.84747	.	.	ENSG00000160469	ENST00000309383	T	0.66099	-0.19	4.5	4.5	0.54988	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	0.64402	D	0.000001	T	0.64875	0.2638	N	0.17872	0.535	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.62491	0.903;0.843	T	0.69003	-0.5260	10	0.52906	T	0.07	.	16.8544	0.86002	0.0:0.0:1.0:0.0	.	83;99	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	T	83	ENSP00000310649:A83T	ENSP00000310649:A83T	A	+	1	0	BRSK1	60490409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.274000	0.95731	2.444000	0.82710	0.500000	0.49745	GCC		0.607	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		4	168	0	0	0	1	0	4	168					A	55798597	G	A	55798597	3	1	181	1	0	0	0	0	1	0	0	0	1523	1087	38	1	257	1	BRSK1	19	55798597	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	16821847	55798597	3330386	24	3189											
ZNF543	125919	broad.mit.edu	37	19	57835056	57835056	+	Missense_Mutation	SNP	G	G	T	rs540048310	byFrequency	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:57835056G>T	ENST00000321545.4	+	2	370	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	9	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(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		CCAGGTGTCTGTGACCTTTGA	0.488													g|||	2	0.000399361	0	0	5008	,	,		19727	0.002		0	False		,,,				2504	0					uc002qoi.2																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(25-27)Gtg>Ttg		Homo sapiens zinc finger protein 543 (ZNF543), mRNA.							156	144	148					19																	57835056		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835056G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.25G>T	19.37:g.57835056G>T	ENSP00000322545:p.Val9Leu		Somatic					p.V9L	NM_213598	NP_998763	WXS	Illumina GAIIx	Phase_I	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	382	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	9			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.25G>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429353	0.25726	.	.	ENSG00000178229	ENST00000321545	T	0.04862	3.54	1.68	0.608	0.17569	Krueppel-associated box (4);	.	.	.	.	T	0.05502	0.0145	L	0.45470	1.425	0.09310	N	0.999991	P	0.41475	0.751	B	0.36719	0.231	T	0.35773	-0.9775	9	0.36615	T	0.2	.	5.31	0.15825	0.3266:0.0:0.6734:0.0	.	9	Q08ER8	ZN543_HUMAN	L	9	ENSP00000322545:V9L	ENSP00000322545:V9L	V	+	1	0	ZNF543	62526868	0.626000	0.27120	0.083000	0.20561	0.890000	0.51754	0.936000	0.28938	0.258000	0.21686	0.467000	0.42956	GTG		0.488	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		4	154	0	0	0	1	0	4	154					T	57835056	G	T	57835056	3	4	181	1	0	0	0	0	1	0	0	0	17973	1377	48	4	31	4	ZNF543	19	57835056	Missense_Mutation	SNP	G	TCGA-EL-A3GV-01A-11D-A21A-08	2036459	57835056	1293927	25	3190											
ARSF	416	broad.mit.edu	37	X	3002560	3002560	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:3002560T>A	ENST00000381127.1	+	6	904	c.683T>A	c.(682-684)cTc>cAc	p.L228H	ARSF_ENST00000359361.2_Missense_Mutation_p.L228H|ARSF_ENST00000537104.1_Missense_Mutation_p.L228H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	228					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)				TTTATTTTCCTCTTGGGCTAT	0.547																																						uc022brz.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.(682-684)cTc>cAc		Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.							138	115	123					X																	3002560		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002560T>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.683T>A	X.37:g.3002560T>A	ENSP00000370519:p.Leu228His		Somatic				ARSF_uc004cre.2_Missense_Mutation_p.L228H|ARSF_uc004crf.2_Missense_Mutation_p.L228H	p.L228H	NM_001201538	NP_001188467	WXS	Illumina GAIIx	Phase_I	P54793	ARSF_HUMAN			5	819	+		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)	228					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.683T>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119249	0.37436	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94280	-3.39;-3.39;-3.39	3.44	2.16	0.27623	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.399027	0.17976	U	0.155702	D	0.95993	0.8695	M	0.90814	3.15	0.09310	N	1	D	0.65815	0.995	D	0.64776	0.929	D	0.88851	0.3319	10	0.33141	T	0.24	.	8.2243	0.31560	0.1801:0.0:0.0:0.8199	.	228	P54793	ARSF_HUMAN	H	228	ENSP00000370519:L228H;ENSP00000445594:L228H;ENSP00000352319:L228H	ENSP00000352319:L228H	L	+	2	0	ARSF	3012560	0.033000	0.19621	0.003000	0.11579	0.003000	0.03518	2.471000	0.45127	1.081000	0.41110	0.438000	0.28831	CTC		0.547	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			9	90	0	0	0	1	0	9	90					A	3002560	T	A	3002560	3	1	181	1	0	0	0	0	1	0	0	0	991	1551	54	5	701	5	ARSF	23	3002560	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08		3002560	152268000	26	3191											
ATRX	546	broad.mit.edu	37	X	76939853	76939853	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:76939853T>C	ENST00000373344.5	-	9	1109	c.895A>G	c.(895-897)Aaa>Gaa	p.K299E	ATRX_ENST00000395603.3_Missense_Mutation_p.K261E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	299					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTGTCAACTTTTATCTTCTTC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(895-897)Aaa>Gaa		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						127	118	121					X																	76939853		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	g.chrX:76939853T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.895A>G	X.37:g.76939853T>C	ENSP00000362441:p.Lys299Glu		Somatic				ATRX_uc004ecq.4_Missense_Mutation_p.K261E|ATRX_uc004eco.4_Missense_Mutation_p.K84E|ATRX_uc004ecr.2_Missense_Mutation_p.K260E|ATRX_uc010nlx.1_Missense_Mutation_p.K299E|ATRX_uc010nly.1_Missense_Mutation_p.K244E	p.K299E	NM_000489	NP_000480	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			8	1127	-			299					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.895A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	t	13.57	2.275325	0.40194	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.96396	-4.0;-4.0	5.5	5.5	0.81552	.	0.057962	0.64402	D	0.000002	D	0.97028	0.9029	L	0.49640	1.575	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.998;0.998	D;D;D;D	0.78314	0.98;0.98;0.991;0.986	D	0.96474	0.9351	10	0.33940	T	0.23	-17.1041	14.6147	0.68539	0.0:0.0:0.0:1.0	.	299;260;261;299	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	E	299;261;255	ENSP00000362441:K299E;ENSP00000378967:K261E	ENSP00000362441:K299E	K	-	1	0	ATRX	76826509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.832000	0.53329	0.409000	0.27619	AAA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	59	0	0	0	1	0	6	59					C	76939853	T	C	76939853	3	2	181	1	0	0	0	0	1	0	0	0	1208	1850	64	3	6691	3	ATRX	23	76939853	Missense_Mutation	SNP	T	TCGA-EL-A3GV-01A-11D-A21A-08	73937293	76939853	78330707	27	3192											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		80	85	0	0	0	1	0	80	85					C	115256529	T	C	115256529	3	2	182	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3GW-01A-11D-A202-08		115256529	133994092	1	3193											
SCN2A	6326	broad.mit.edu	37	2	166231282	166231282	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr2:166231282A>G	ENST00000375437.2	+	22	4350	c.4060A>G	c.(4060-4062)Atg>Gtg	p.M1354V	SCN2A_ENST00000375427.2_Missense_Mutation_p.M1354V|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1354V|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1354V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1354					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)	ATTCAGTATCATGGGAGTGAA	0.398																																						uc002udc.3																			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.(4060-4062)Atg>Gtg		Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	Lamotrigine(DB00555)						166	156	159					2																	166231282		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231282A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4060A>G	2.37:g.166231282A>G	ENSP00000364586:p.Met1354Val		Somatic				SCN2A_uc002udd.3_Missense_Mutation_p.M1354V|SCN2A_uc002ude.3_Missense_Mutation_p.M1354V	p.M1354V	NM_001040142	NP_066287	WXS	Illumina GAIIx	Phase_I	Q99250	SCN2A_HUMAN			21	4350	+			1354					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4060A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594273	0.66219	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	4.41	4.41	0.53225	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	L	0.50919	1.6	0.54753	D	0.999989	P;P	0.49358	0.923;0.913	P;D	0.73708	0.591;0.981	D	0.99170	1.0864	10	0.59425	D	0.04	.	13.9571	0.64155	1.0:0.0:0.0:0.0	.	1354;1354	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1354	ENSP00000364586:M1354V;ENSP00000349973:M1354V;ENSP00000283256:M1354V;ENSP00000364576:M1354V	ENSP00000283256:M1354V	M	+	1	0	SCN2A	165939528	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.287000	0.95975	1.751000	0.51876	0.383000	0.25322	ATG		0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		3	84	0	0	0	1	0	3	84					G	166231282	A	G	166231282	3	3	182	1	0	0	0	0	1	0	0	0	13916	217	8	3	4238	3	SCN2A	2	166231282	Missense_Mutation	SNP	A	TCGA-EL-A3GW-01A-11D-A202-08		166231282	76968091	2	3194											
MAPKAPK3	7867	broad.mit.edu	37	3	50679702	50679702	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr3:50679702G>A	ENST00000446044.1	+	7	1039	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R148Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|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)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAGATAATGCGGGATATTGGC	0.562																																						uc003day.2																			0				central_nervous_system(1)|ovary(1)	2						c.(442-444)cGg>cAg		Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.							83	78	80					3																	50679702		2203	4300	6503	SO:0001583	missense	7867				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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 serine/threonine kinase activity	g.chr3:50679702G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.443G>A	3.37:g.50679702G>A	ENSP00000396467:p.Arg148Gln		Somatic				MAPKAPK3_uc003daz.2_Missense_Mutation_p.R148Q|MAPKAPK3_uc003dba.2_Missense_Mutation_p.R148Q|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.R148Q	p.R148Q	NM_001243926	NP_001230855	WXS	Illumina GAIIx	Phase_I	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	6	1085	+			148			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.443G>A	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636002	0.87760	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.51817	0.69;0.69;0.69	5.41	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.174930	0.46145	D	0.000316	T	0.51092	0.1654	L	0.39397	1.21	0.47659	D	0.999484	D	0.55800	0.973	P	0.51918	0.684	T	0.55642	-0.8109	10	0.72032	D	0.01	-33.135	15.1711	0.72875	0.0:0.0:0.8574:0.1425	.	148	Q16644	MAPK3_HUMAN	Q	148	ENSP00000396467:R148Q;ENSP00000410970:R148Q;ENSP00000350639:R148Q	ENSP00000350639:R148Q	R	+	2	0	MAPKAPK3	50654706	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	3.174000	0.50847	1.273000	0.44346	0.491000	0.48974	CGG		0.562	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		8	60	0	0	0	1	0	8	60					A	50679702	G	A	50679702	3	1	182	1	0	0	0	0	1	0	0	0	9290	1116	39	1	457	1	MAPKAPK3	3	50679702	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		50679702	147342728	3	3195											
DBNL	28988	broad.mit.edu	37	7	44089851	44089851	+	Silent	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:44089851C>T	ENST00000448521.1	+	2	209	c.111C>T	c.(109-111)agC>agT	p.S37S	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.A5V|DBNL_ENST00000456905.1_Silent_p.S37S|DBNL_ENST00000468694.1_Silent_p.S37S|DBNL_ENST00000494774.1_Silent_p.S37S|DBNL_ENST00000452943.1_Silent_p.S37S|DBNL_ENST00000440166.1_Intron	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AAGGCAACAGCAATGACATCC	0.557																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjq.4																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(109-111)agC>agT		Homo sapiens drebrin-like (DBNL), transcript variant 3, mRNA.							163	142	149					7																	44089851		2203	4300	6503	SO:0001819	synonymous_variant	28988				Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44089851C>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.111C>T	7.37:g.44089851C>T			Somatic				DBNL_uc003tjo.4_Silent_p.S37S|DBNL_uc003tjp.4_Silent_p.S37S|DBNL_uc011kbm.2_Silent_p.S37S|DBNL_uc011kbo.2_5'UTR|DBNL_uc011kbp.2_Silent_p.S37S|DBNL_uc011kbq.2_5'UTR|DBNL_uc011kbn.2_Intron|DBNL_uc011kbr.2_5'UTR|DBNL_uc011kbs.2_5'Flank	p.S37S	NM_001122956	NP_001116428	WXS	Illumina GAIIx	Phase_I	Q9UJU6	DBNL_HUMAN			1	209	+			37			ADF-H.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	c.111C>T	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033022	0.93575	.	.	ENSG00000136279	ENST00000490734;ENST00000539475	T	0.18174	2.23	5.41	5.41	0.78517	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.30494	N	0.771122	.	.	.	.	.	.	T	0.16335	-1.0406	6	0.72032	D	0.01	-49.0765	18.8965	0.92426	0.0:1.0:0.0:0.0	.	.	.	.	V	5	ENSP00000417749:A5V	ENSP00000417749:A5V	A	+	2	0	DBNL	44056376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.587000	0.53957	2.553000	0.86117	0.650000	0.86243	GCA		0.557	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		7	106	0	0	0	1	0	7	106					T	44089851	C	T	44089851	2	4	182	1	0	0	0	0	0	0	0	1	4255	709	25	2		2	DBNL	7	44089851	Silent	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		44089851	115048812	4	3196											
TNPO3	23534	broad.mit.edu	37	7	128641196	128641196	+	Silent	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:128641196C>T	ENST00000265388.5	-	6	932	c.789G>A	c.(787-789)ttG>ttA	p.L263L	TNPO3_ENST00000393245.1_Silent_p.L263L|TNPO3_ENST00000482320.1_Silent_p.L197L|TNPO3_ENST00000471234.1_Silent_p.L263L|TNPO3_ENST00000471166.1_Silent_p.L263L			Q9Y5L0	TNPO3_HUMAN	transportin 3	263					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						TGGCTAATGGCAAGTTAGTCT	0.463																																					Pancreas(147;583 2585 39696 52331)	uc010lly.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(787-789)ttG>ttA		Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.							252	221	231					7																	128641196		2203	4300	6503	SO:0001819	synonymous_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128641196C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.789G>A	7.37:g.128641196C>T			Somatic				TNPO3_uc003vol.2_Silent_p.L263L|TNPO3_uc010llz.2_Silent_p.L263L|TNPO3_uc003vom.2_Silent_p.L197L	p.L263L	NM_012470	NP_036602	WXS	Illumina GAIIx	Phase_I	Q9Y5L0	TNPO3_HUMAN			5	1192	-			263					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	c.789G>A	CCDS5809.1																																																																																				0.463	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		61	107	0	0	0	1	0	61	107					T	128641196	C	T	128641196	2	4	182	1	0	0	0	0	0	0	0	1	16334	709	25	2		2	TNPO3	7	128641196	Silent	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	84551345	128641196	30497467	5	3197											
FASTK	10922	broad.mit.edu	37	7	150774839	150774839	+	Silent	SNP	G	G	C			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:150774839G>C	ENST00000297532.6	-	6	1145	c.1068C>G	c.(1066-1068)cgC>cgG	p.R356R	FASTK_ENST00000540185.1_3'UTR|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000353841.2_Silent_p.R215R|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.R329R	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	356					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)		GGGAGAGGTAGCGACGCACAA	0.692																																						uc003wix.1																			0				lung(4)|stomach(2)	6						c.(1066-1068)cgC>cgG		Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.							38	46	43					7																	150774839		2203	4300	6503	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150774839G>C		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1068C>G	7.37:g.150774839G>C			Somatic				AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Silent_p.R117R|FASTK_uc003wiy.1_Silent_p.R215R|FASTK_uc003wiz.1_Silent_p.R329R|FASTK_uc003wja.1_3'UTR	p.R356R	NM_006712	NP_006703	WXS	Illumina GAIIx	Phase_I	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)	5	1166	-			356					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.1068C>G	CCDS5918.1																																																																																				0.692	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		3	51	0	0	0	1	0	3	51					C	150774839	G	C	150774839	2	2	182	1	0	0	0	0	0	0	0	1	5684	958	34	4		4	FASTK	7	150774839	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08	22133643	150774839	8363824	6	3198											
SIGMAR1	10280	broad.mit.edu	37	9	34637622	34637622	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:34637622delC	ENST00000277010.4	-	1	146	c.73delG	c.(73-75)gtcfs	p.V26fs	SIGMAR1_ENST00000477726.1_Frame_Shift_Del_p.V26fs|SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000461426.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	26					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	AGCCAGACGACCTGGGTCAGC	0.726																																						uc003zvb.3																			0				large_intestine(1)|lung(1)	2						c.(73-75)gtcfs		Homo sapiens sigma non-opioid intracellular receptor 1 (SIGMAR1), transcript variant 1, mRNA.	Dextromethorphan(DB00514)						11	12	11					9																	34637622		2152	4205	6357	SO:0001589	frameshift_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34637622delC	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.73delG	9.37:g.34637622delC	ENSP00000277010:p.Val26fs		Somatic				SIGMAR1_uc003zva.4_Frame_Shift_Del_p.V25fs|SIGMAR1_uc003zuz.3_5'UTR|SIGMAR1_uc003zvd.3_Non-coding_Transcript|SIGMAR1_uc003zvc.3_Frame_Shift_Del_p.V25fs|SIGMAR1_uc011loo.1_Frame_Shift_Del_p.V25fs	p.V25fs	NM_005866	NP_005857	WXS	Illumina GAIIx	Phase_I	Q99720	SGMR1_HUMAN			0	147	-			25					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Frame_Shift_Del	DEL	ENST00000277010.4	37	c.73delG	CCDS6562.1																																																																																				0.726	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		2	4						2	4	---	---	---	---	-	34637622	C	-	34637622	7	5	182	1	0	1	0	1	0	0	0	0	14316	507	18	0	614	0	SIGMAR1	9	34637622	Frame_Shift_Del	DEL	C	TCGA-EL-A3GW-01A-11D-A202-08		34637622	106575809	7	3199											
FANCG	2189	broad.mit.edu	37	9	35079474	35079474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:35079474C>T	ENST00000378643.3	-	1	539	c.48G>A	c.(46-48)tgG>tgA	p.W16*	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	16					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTTTTCCCTCCACAGGTCCA	0.617			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1			yes	Rec		Fanconi anaemia G	9	9p13	2189	"Mis, N, F, S"	"Fanconi anemia, complementation group G"			L		"AML, leukemia"			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(46-48)tgG>tgA	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.							79	79	79					9																	35079474		2203	4300	6503	SO:0001587	stop_gained	2189				DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079474C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"Fanconi anemia, complementation groups"	3588	protein-coding gene	gene with protein product	"DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9"	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.48G>A	9.37:g.35079474C>T	ENSP00000367910:p.Trp16*		Somatic				FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Nonsense_Mutation_p.W16*	p.W16*	NM_004629	NP_004620	WXS	Illumina GAIIx	Phase_I	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		0	540	-			16						Nonsense_Mutation	SNP	ENST00000378643.3	37	c.48G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398967	0.97537	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4347	13.8924	0.63747	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000367910:W16X	W	-	3	0	FANCG	35069474	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.233000	0.51311	2.735000	0.93741	0.561000	0.74099	TGG		0.617	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		31	61	0	0	0	1	0	31	61					T	35079474	C	T	35079474	4	4	182	1	0	0	0	0	0	1	0	0	5668	856	30	2	1876	2	FANCG	9	35079474	Nonsense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	441852	35079474	106133957	8	3200											
MED6	10001	broad.mit.edu	37	14	71051560	71051560	+	Silent	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr14:71051560G>A	ENST00000256379.5	-	8	740	c.711C>T	c.(709-711)ggC>ggT	p.G237G	MED6_ENST00000430055.2_Silent_p.G244G|MED6_ENST00000554963.1_Silent_p.G237G|MED6_ENST00000440435.2_3'UTR	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	237					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TTTCAGGGGGGCCTTTAGCAC	0.448																																						uc010tth.2																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(730-732)ggC>ggT		Homo sapiens mediator complex subunit 6 (MED6), mRNA.							223	195	204					14																	71051560		2203	4300	6503	SO:0001819	synonymous_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051560G>A	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.711C>T	14.37:g.71051560G>A			Somatic				MED6_uc001xmf.3_Silent_p.G237G|MED6_uc010tti.2_3'UTR	p.G244G	NM_005466	NP_005457	WXS	Illumina GAIIx	Phase_I	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	7	762	-			237					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Silent	SNP	ENST00000256379.5	37	c.732C>T	CCDS9805.1																																																																																				0.448	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		12	129	0	0	0	1	0	12	129					A	71051560	G	A	71051560	2	1	182	1	0	0	0	0	0	0	0	1	9451	1190	42	2		2	MED6	14	71051560	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		71051560	36297980	9	3201											
CHD9	80205	broad.mit.edu	37	16	53340255	53340255	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr16:53340255G>T	ENST00000398510.3	+	31	6813	c.6726G>T	c.(6724-6726)gaG>gaT	p.E2242D	CHD9_ENST00000447540.1_Missense_Mutation_p.E2243D|CHD9_ENST00000564845.1_Missense_Mutation_p.E2242D|CHD9_ENST00000566029.1_Missense_Mutation_p.E2242D			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2242					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGACACCAGAGTCTGCTTATA	0.408																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6724-6726)gaG>gaT		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							85	85	85					16																	53340255		1896	4112	6008	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53340255G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6726G>T	16.37:g.53340255G>T	ENSP00000381522:p.Glu2242Asp		Somatic				CHD9_uc002egy.3_Missense_Mutation_p.E2242D|CHD9_uc002ehc.3_Missense_Mutation_p.E2243D|CHD9_uc002ehf.3_Missense_Mutation_p.E1356D|CHD9_uc002ehg.2_Missense_Mutation_p.E1357D|CHD9_uc010cbw.3_Missense_Mutation_p.E308D	p.E2242D	NM_025134	NP_079410	WXS	Illumina GAIIx	Phase_I	Q3L8U1	CHD9_HUMAN			30	6890	+		all_cancers(37;0.0212)	2242					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6726G>T		.	.	.	.	.	.	.	.	.	.	G	13.65	2.300562	0.40694	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.86956	-2.12;-2.19	5.88	1.39	0.22231	.	0.312532	0.27831	N	0.017667	T	0.75162	0.3812	N	0.14661	0.345	0.24747	N	0.993005	P;P;B;P;P	0.50943	0.584;0.9;0.0;0.92;0.94	B;B;B;P;P	0.50440	0.138;0.438;0.003;0.52;0.641	T	0.65721	-0.6099	10	0.17832	T	0.49	-9.9875	1.756	0.02982	0.1722:0.1032:0.3928:0.3318	.	308;2242;2243;2242;2242	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	D	2243;2242;308	ENSP00000396345:E2243D;ENSP00000381522:E2242D	ENSP00000381522:E2242D	E	+	3	2	CHD9	51897756	1.000000	0.71417	0.995000	0.50966	0.714000	0.41099	1.233000	0.32648	0.393000	0.25203	-0.181000	0.13052	GAG		0.408	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		8	31	0	0	0	1	0	8	31					T	53340255	G	T	53340255	3	4	182	1	0	0	0	0	1	0	0	0	3332	1020	36	4	6848	4	CHD9	16	53340255	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		53340255	37014498	10	3202											
MED31	51003	broad.mit.edu	37	17	6553725	6553725	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr17:6553725C>A	ENST00000225728.3	-	2	162	c.57G>T	c.(55-57)caG>caT	p.Q19H	MED31_ENST00000574128.1_5'UTR|MED31_ENST00000575197.1_Missense_Mutation_p.Q19H|C17orf100_ENST00000391428.2_5'Flank	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	19					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						CCAACTCCAACTGAAACCGAA	0.348																																						uc002gdg.4																			0		p.Q19*(1)		cervix(1)|endometrium(1)|large_intestine(1)	3						c.(55-57)caG>caT		Homo sapiens mediator complex subunit 31 (MED31), mRNA.							120	114	116					17																	6553725		2203	4300	6503	SO:0001583	missense	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6553725C>A	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.57G>T	17.37:g.6553725C>A	ENSP00000225728:p.Gln19His		Somatic				MED31_uc002gdh.4_Non-coding_Transcript|C17orf100_uc010clp.1_5'Flank	p.Q19H	NM_016060	NP_057144	WXS	Illumina GAIIx	Phase_I	Q9Y3C7	MED31_HUMAN			1	163	-			19					B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	37	c.57G>T	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726570	0.48833	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.71	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.82132	2.575	0.80722	D	1	B	0.32302	0.363	B	0.36378	0.223	T	0.65425	-0.6171	9	0.52906	T	0.07	0.8509	10.2417	0.43316	0.0:0.7663:0.0:0.2337	.	19	Q9Y3C7	MED31_HUMAN	H	19	.	ENSP00000225728:Q19H	Q	-	3	2	MED31	6494449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.173000	0.31920	0.891000	0.36235	-0.252000	0.11476	CAG		0.348	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060		10	108	0	0	0	1	0	10	108					A	6553725	C	A	6553725	3	1	182	1	0	0	0	0	1	0	0	0	9449	564	20	4	350	4	MED31	17	6553725	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		6553725	74641485	11	3203											
KIAA0892	23383	broad.mit.edu	37	19	19460201	19460201	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr19:19460201C>T	ENST00000392313.6	+	16	1683	c.1504C>T	c.(1504-1506)Ctc>Ttc	p.L502F	MAU2_ENST00000262815.8_Missense_Mutation_p.L502F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	502					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGCCTGCTCCCTCGTGCTTCT	0.592																																						uc002nmk.4																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1504-1506)Ctc>Ttc		Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.							151	146	148					19																	19460201		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding	g.chr19:19460201C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1504C>T	19.37:g.19460201C>T	ENSP00000376127:p.Leu502Phe		Somatic				MAU2_uc002nml.4_Missense_Mutation_p.L107F|MAU2_uc010ecd.3_Missense_Mutation_p.L107F|MAU2_uc010ece.3_Missense_Mutation_p.L78F	p.L502F	NM_015329	NP_056144	WXS	Illumina GAIIx	Phase_I	Q9Y6X3	SCC4_HUMAN			15	1543	+			502					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1504C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165163	0.57476	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.66995	-0.24;-0.24	4.97	4.97	0.65823	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.75510	0.3859	L	0.55990	1.75	0.80722	D	1	D;D;P	0.69078	0.997;0.991;0.906	D;D;P	0.75484	0.986;0.934;0.649	T	0.75488	-0.3300	10	0.48119	T	0.1	.	10.4476	0.44503	0.0:0.9095:0.0:0.0905	.	78;107;502	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	F	502	ENSP00000376127:L502F;ENSP00000262815:L502F	ENSP00000262815:L502F	L	+	1	0	MAU2	19321201	1.000000	0.71417	0.936000	0.37596	0.410000	0.31052	5.656000	0.67988	2.323000	0.78572	0.561000	0.74099	CTC		0.592	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		6	173	0	0	0	1	0	6	173					T	19460201	C	T	19460201	3	4	182	1	0	0	0	0	1	0	0	0	8196	681	24	2	1566	2	KIAA0892	19	19460201	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08		19460201	39668782	12	3204											
NPHS1	4868	broad.mit.edu	37	19	36333350	36333350	+	Missense_Mutation	SNP	C	C	T	rs374846352		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr19:36333350C>T	ENST00000378910.5	-	18	2436	c.2437G>A	c.(2437-2439)Gct>Act	p.A813T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A813T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	813	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTGGTAAGCGCCAGCCTGG	0.572																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2437-2439)Gct>Act		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.		C	THR/ALA	0,4406		0,0,2203	88	82	84		2437	2.1	1.0	19		84	2,8598	2.2+/-6.3	0,2,4298	no	missense	NPHS1	NM_004646.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	813/1242	36333350	2,13004	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333350C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2437G>A	19.37:g.36333350C>T	ENSP00000368190:p.Ala813Thr		Somatic					p.A813T	NM_004646	NP_004637	WXS	Illumina GAIIx	Phase_I	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	2593	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		813			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2437G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691353	0.48097	0.0	2.33E-4	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.10860	2.83;2.83	4.46	2.14	0.27477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.233434	0.36303	N	0.002679	T	0.05777	0.0151	N	0.05534	-0.03	0.24836	N	0.992494	D	0.54397	0.966	P	0.44860	0.462	T	0.39502	-0.9611	10	0.21540	T	0.41	-6.4368	10.2784	0.43523	0.0:0.5805:0.4195:0.0	.	813	O60500	NPHN_HUMAN	T	813	ENSP00000368190:A813T;ENSP00000343634:A813T	ENSP00000343634:A813T	A	-	1	0	NPHS1	41025190	0.519000	0.26242	0.985000	0.45067	0.893000	0.52053	1.167000	0.31847	1.087000	0.41251	0.558000	0.71614	GCT		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			52	70	0	0	0	1	0	52	70					T	36333350	C	T	36333350	3	4	182	1	0	0	0	0	1	0	0	0	10582	768	27	1	1336	1	NPHS1	19	36333350	Missense_Mutation	SNP	C	TCGA-EL-A3GW-01A-11D-A202-08	16873149	36333350	22795633	13	3205											
PCNT	5116	broad.mit.edu	37	21	47783688	47783688	+	Silent	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr21:47783688G>A	ENST00000359568.5	+	14	2555	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	816					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)					CCTTGACGGAGCAGCAGGGCC	0.607																																						uc002zji.4																			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.(2446-2448)gaG>gaA		Homo sapiens pericentrin (PCNT), mRNA.							58	61	60					21																	47783688		2203	4300	6503	SO:0001819	synonymous_variant	5116				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	g.chr21:47783688G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2448G>A	21.37:g.47783688G>A			Somatic				PCNT_uc002zjj.3_Silent_p.E698E	p.E816E	NM_006031	NP_006022	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			13	2555	+	Breast(49;0.112)		816					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2448G>A	CCDS33592.1																																																																																				0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	105	0	0	0	1	0	3	105					A	47783688	G	A	47783688	2	1	182	1	0	0	0	0	0	0	0	1	11590	962	34	2		2	PCNT	21	47783688	Silent	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		47783688	346207	14	3206											
TAB3	257397	broad.mit.edu	37	X	30873051	30873051	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chrX:30873051G>A	ENST00000378933.1	-	3	908	c.731C>T	c.(730-732)aCt>aTt	p.T244I	TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000288422.2_Missense_Mutation_p.T244I|TAB3_ENST00000378932.2_Missense_Mutation_p.T244I|TAB3_ENST00000378930.3_Missense_Mutation_p.T244I|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	244	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTCTGAGGAGTTTGTCTTCC	0.463																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dck.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(730-732)aCt>aTt		Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.							60	54	56					X																	30873051		2202	4300	6502	SO:0001583	missense	257397				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873051G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.731C>T	X.37:g.30873051G>A	ENSP00000368215:p.Thr244Ile		Somatic				TAB3_uc010ngl.3_Missense_Mutation_p.T244I|TAB3_uc004dcj.3_Missense_Mutation_p.T244I	p.T244I	NM_152787	NP_690000	WXS	Illumina GAIIx	Phase_I	Q8N5C8	TAB3_HUMAN			6	1278	-			244			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.731C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840003	0.51057	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.86	4.83	3.89	0.44902	.	0.088885	0.85682	D	0.000000	T	0.75510	0.3859	L	0.40543	1.245	0.35350	D	0.78726	D;D	0.64830	0.994;0.99	P;P	0.54759	0.76;0.58	D	0.83530	0.0090	10	0.72032	D	0.01	-5.1467	13.9414	0.64057	0.0:0.149:0.8509:0.0	.	244;244	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	244	ENSP00000368215:T244I;ENSP00000368212:T244I;ENSP00000288422:T244I;ENSP00000368214:T244I	ENSP00000288422:T244I	T	-	2	0	TAB3	30782972	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.938000	0.63519	2.123000	0.65237	0.544000	0.68410	ACT		0.463	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	9	0	0	0	1	0	8	9					A	30873051	G	A	30873051	3	1	182	1	0	0	0	0	1	0	0	0	15494	1029	36	2	1431	2	TAB3	23	30873051	Missense_Mutation	SNP	G	TCGA-EL-A3GW-01A-11D-A202-08		30873051	124397509	15	3207											
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	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)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTCTTACCCCTTTTGAATTTC	0.418																																						uc001gpy.4																			1	Substitution - coding silent(1)	p.P641P(2)|p.P641L(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1921-1923)ccT>ccC		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122	127	125					1																	183087214		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087214T>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1923T>C	1.37:g.183087214T>C			Somatic					p.P641P	NM_002293	NP_002284	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			10	2180	+			641			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1923T>C	CCDS1351.1																																																																																				0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	101	0	0	0	1	0	3	101					C	183087214	T	C	183087214	2	2	183	1	0	0	0	0	0	0	0	1	8614	1596	56	3		3	LAMC1	1	183087214	Silent	SNP	T	TCGA-EL-A3GX-01A-11D-A202-08		183087214	66163407	1	3208											
SLC3A1	6519	broad.mit.edu	37	2	44527120	44527120	+	Missense_Mutation	SNP	G	G	A	rs372528227		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr2:44527120G>A	ENST00000260649.6	+	5	978	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	SLC3A1_ENST00000409229.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409294.1_5'Flank|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R23Q|SLC3A1_ENST00000409387.1_Missense_Mutation_p.R301Q|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R301Q	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	301					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAAATTTTACGGTTCTGGCTC	0.363																																						uc002ruc.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(901-903)cGg>cAg		Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	L-Cystine(DB00138)						177	178	178					2																	44527120		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding	g.chr2:44527120G>A		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.902G>A	2.37:g.44527120G>A	ENSP00000260649:p.Arg301Gln		Somatic				SLC3A1_uc002rty.3_Missense_Mutation_p.R301Q|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301Q|SLC3A1_uc002rua.3_Missense_Mutation_p.R301Q|SLC3A1_uc002rub.2_Missense_Mutation_p.R301Q|SLC3A1_uc002rud.4_Missense_Mutation_p.R23Q	p.R301Q	NM_000341	NP_000332	WXS	Illumina GAIIx	Phase_I	Q07837	SLC31_HUMAN			4	980	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	301					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.902G>A	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	5.916	0.353101	0.11182	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	5.35	0.29	0.15728	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.498699	0.23476	N	0.047771	D	0.94706	0.8292	L	0.47016	1.485	0.24888	N	0.992186	B;B;B;B;B	0.24092	0.006;0.06;0.097;0.026;0.046	B;B;B;B;B	0.20184	0.011;0.019;0.028;0.017;0.008	D	0.87585	0.2487	10	0.27082	T	0.32	-4.21	6.1902	0.20520	0.6489:0.1317:0.2194:0.0	.	301;301;301;301;301	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	Q	301;301;237;301;301;301;301;23;79	ENSP00000260649:R301Q;ENSP00000387308:R301Q;ENSP00000387337:R301Q;ENSP00000386954:R301Q;ENSP00000386620:R301Q;ENSP00000386709:R23Q;ENSP00000391642:R79Q	ENSP00000260649:R301Q	R	+	2	0	SLC3A1	44380624	0.049000	0.20398	0.847000	0.33407	0.139000	0.21198	0.599000	0.24089	0.030000	0.15379	-1.133000	0.01973	CGG		0.363	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		24	104	0	0	0	1	0	24	104					A	44527120	G	A	44527120	3	1	183	1	0	0	0	0	1	0	0	0	14626	1116	39	1	920	1	SLC3A1	2	44527120	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		44527120	198672253	2	3209											
FETUB	26998	broad.mit.edu	37	3	186370224	186370224	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr3:186370224A>G	ENST00000265029.3	+	7	1054	c.953A>G	c.(952-954)aAg>aGg	p.K318R	RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.K170R|FETUB_ENST00000450521.1_Missense_Mutation_p.K318R|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.K253R|FETUB_ENST00000382136.3_Missense_Mutation_p.K281R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	318					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TCCCAGGAAAAGGGCCCTCAG	0.527																																						uc010hyq.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(952-954)aAg>aGg		Homo sapiens fetuin B (FETUB), mRNA.							86	99	95					3																	186370224		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370224A>G	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.953A>G	3.37:g.186370224A>G	ENSP00000265029:p.Lys318Arg		Somatic				FETUB_uc011brz.2_Missense_Mutation_p.K170R|FETUB_uc003fqn.3_Missense_Mutation_p.K318R|FETUB_uc010hyr.3_Missense_Mutation_p.K281R|FETUB_uc010hys.3_Missense_Mutation_p.K170R|FETUB_uc003fqp.4_Missense_Mutation_p.K253R	p.K318R	NM_014375	NP_055190	WXS	Illumina GAIIx	Phase_I	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	1214	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		318					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.953A>G	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860137	0.32884	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.19	-5.16	0.02857	.	1.549160	0.03507	N	0.219006	T	0.36744	0.0978	L	0.47716	1.5	0.09310	N	1	P;P;P	0.46064	0.704;0.872;0.514	B;B;B	0.39503	0.152;0.301;0.165	T	0.45789	-0.9237	10	0.35671	T	0.21	0.3744	7.3446	0.26656	0.269:0.5564:0.1746:0.0	.	281;253;318	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	R	318;170;318;253;281	ENSP00000404288:K318R;ENSP00000443704:K170R;ENSP00000265029:K318R;ENSP00000371569:K253R;ENSP00000371571:K281R	ENSP00000265029:K318R	K	+	2	0	FETUB	187852918	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.087000	0.01360	-0.936000	0.03723	0.533000	0.62120	AAG		0.527	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		3	194	0	0	0	1	0	3	194					G	186370224	A	G	186370224	3	3	183	1	0	0	0	0	1	0	0	0	5821	72	3	3	979	3	FETUB	3	186370224	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		186370224	11652206	3	3210											
UBA6	55236	broad.mit.edu	37	4	68500218	68500218	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr4:68500218C>G	ENST00000322244.5	-	21	1920	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	621					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						AATGGTATTTCCTCTTCTGGG	0.328																																						uc003hdg.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1861-1863)Gaa>Caa		Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.							57	64	62					4																	68500218		2202	4297	6499	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68500218C>G	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1861G>C	4.37:g.68500218C>G	ENSP00000313454:p.Glu621Gln		Somatic				UBA6_uc003hdh.1_Missense_Mutation_p.E147Q	p.E621Q	NM_018227	NP_060697	WXS	Illumina GAIIx	Phase_I	A0AVT1	UBA6_HUMAN			20	1913	-			621					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.1861G>C	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.59|16.59	3.164482|3.164482	0.57476|0.57476	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.41758|.	0.99|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	P|.	0.41978|.	0.767|.	P|.	0.46299|.	0.511|.	T|T	0.51965|0.51965	-0.8638|-0.8638	10|5	0.30078|.	T|.	0.28|.	-15.5157|-15.5157	20.0155|20.0155	0.97477|0.97477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621|.	A0AVT1|.	UBA6_HUMAN|.	Q|S	621|154	ENSP00000313454:E621Q|.	ENSP00000313454:E621Q|.	E|R	-|-	1|3	0|2	UBA6|UBA6	68182813|68182813	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	2.742000|2.742000	0.94016|0.94016	0.591000|0.591000	0.81541|0.81541	GAA|AGG		0.328	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		7	47	0	0	0	1	0	7	47					G	68500218	C	G	68500218	3	3	183	1	0	0	0	0	1	0	0	0	16829	864	30	4	1349	4	UBA6	4	68500218	Missense_Mutation	SNP	C	TCGA-EL-A3GX-01A-11D-A202-08		68500218	122654058	4	3211											
ANKS1A	23294	broad.mit.edu	37	6	34985340	34985340	+	Missense_Mutation	SNP	G	G	A	rs199969282		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr6:34985340G>A	ENST00000360359.3	+	11	1652	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	505					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCCTCCACGGCTCCTCCCCG	0.701																																						uc003ojx.4																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1513-1515)gGc>gAc		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.							33	38	36					6																	34985340		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985340G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1514G>A	6.37:g.34985340G>A	ENSP00000353518:p.Gly505Asp		Somatic				ANKS1A_uc011dst.2_Missense_Mutation_p.G45D|ANKS1A_uc010jvp.2_Intron	p.G505D	NM_015245	NP_056060	WXS	Illumina GAIIx	Phase_I	Q92625	ANS1A_HUMAN			10	1656	+			505					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1514G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243051	0.79912	.	.	ENSG00000064999	ENST00000360359	T	0.58797	0.31	5.05	5.05	0.67936	.	0.000000	0.50627	D	0.000117	T	0.69061	0.3069	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72181	-0.4368	10	0.72032	D	0.01	-25.8785	16.9636	0.86279	0.0:0.0:1.0:0.0	.	505	Q92625	ANS1A_HUMAN	D	505	ENSP00000353518:G505D	ENSP00000353518:G505D	G	+	2	0	ANKS1A	35093318	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.005000	0.93587	2.510000	0.84645	0.655000	0.94253	GGC		0.701	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		18	38	0	0	0	1	0	18	38					A	34985340	G	A	34985340	3	1	183	1	0	0	0	0	1	0	0	0	688	1203	42	2	1556	2	ANKS1A	6	34985340	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		34985340	136129727	5	3212											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	44	0	0	0	1	0	30	44					T	140453136	A	T	140453136	3	4	183	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		140453136	18685527	6	3213											
SLC39A14	23516	broad.mit.edu	37	8	22275185	22275185	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:22275185A>T	ENST00000381237.1	+	8	1288	c.1169A>T	c.(1168-1170)aAc>aTc	p.N390I	SLC39A14_ENST00000240095.6_Missense_Mutation_p.N390I|SLC39A14_ENST00000289952.5_Missense_Mutation_p.N390I|SLC39A14_ENST00000359741.5_Missense_Mutation_p.N390I	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	390					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ATCCTGCTCAACGCTGGGATG	0.547																																						uc003xbq.4																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(1168-1170)aAc>aTc		Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.							177	138	151					8																	22275185		2203	4300	6503	SO:0001583	missense	23516					Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22275185A>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"Solute carriers"	20858	protein-coding gene	gene with protein product		608736	"solute carrier family 39 (metal ion transporter), member 14"			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1169A>T	8.37:g.22275185A>T	ENSP00000370635:p.Asn390Ile		Somatic				SLC39A14_uc011kzg.2_Missense_Mutation_p.N390I|SLC39A14_uc003xbp.4_Missense_Mutation_p.N390I|SLC39A14_uc011kzh.2_Missense_Mutation_p.N390I	p.N390I	NM_001128431	NP_001128625	WXS	Illumina GAIIx	Phase_I	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	7	1344	+			390					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.1169A>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303742	0.81136	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	6.17	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	M	0.82823	2.61	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.983;0.996;0.996	T	0.72686	-0.4218	10	0.62326	D	0.03	-28.6944	11.5887	0.50933	0.9297:0.0:0.0703:0.0	.	390;390;390	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	I	390	ENSP00000352779:N390I;ENSP00000240095:N390I;ENSP00000370635:N390I;ENSP00000289952:N390I	ENSP00000240095:N390I	N	+	2	0	SLC39A14	22331130	1.000000	0.71417	0.969000	0.41365	0.723000	0.41478	7.352000	0.79404	1.146000	0.42352	0.533000	0.62120	AAC		0.547	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		61	84	0	0	0	1	0	61	84					T	22275185	A	T	22275185	3	4	183	1	0	0	0	0	1	0	0	0	14617	43	2	5	1369	5	SLC39A14	8	22275185	Missense_Mutation	SNP	A	TCGA-EL-A3GX-01A-11D-A202-08		22275185	124088837	7	3214											
GPR124	25960	broad.mit.edu	37	8	37698636	37698636	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr8:37698636C>T	ENST00000412232.2	+	19	2793	c.2780C>T	c.(2779-2781)gCc>gTc	p.A927V	GPR124_ENST00000315215.7_Missense_Mutation_p.A710V	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)			AGCCTTGGCGCCTTCTACATC	0.627																																						uc003xkj.3																			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.(2779-2781)gCc>gTc		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.							107	116	113					8																	37698636		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.chr8:37698636C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2780C>T	8.37:g.37698636C>T	ENSP00000406367:p.Ala927Val		Somatic				GPR124_uc010lvy.3_Missense_Mutation_p.A710V	p.A927V	NM_032777	NP_116166	WXS	Illumina GAIIx	Phase_I	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		18	3166	+			927					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2780C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	33	5.207401	0.95033	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.41758	0.99;0.99	4.67	4.67	0.58626	GPCR, family 2-like (1);	0.062185	0.64402	D	0.000004	T	0.71434	0.3339	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74674	0.984;0.966	T	0.78252	-0.2276	10	0.48119	T	0.1	-27.2058	17.575	0.87946	0.0:1.0:0.0:0.0	.	710;927	Q96PE1-2;Q96PE1	.;GP124_HUMAN	V	920;710;927	ENSP00000323508:A710V;ENSP00000406367:A927V	ENSP00000323508:A710V	A	+	2	0	GPR124	37817794	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.757000	0.85209	2.138000	0.66242	0.655000	0.94253	GCC		0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	186	0	0	0	1	0	5	186					T	37698636	C	T	37698636	3	4	183	1	0	0	0	0	1	0	0	0	6638	739	26	2	2833	2	GPR124	8	37698636	Missense_Mutation	SNP	C	TCGA-EL-A3GX-01A-11D-A202-08	15423451	37698636	108665386	8	3215											
PRB2	653247	broad.mit.edu	37	12	11546180	11546180	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr12:11546180G>C	ENST00000389362.4	-	3	867	c.832C>G	c.(832-834)Cca>Gca	p.P278A	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	278	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGTGGGGGACCTTGA	0.617																																						uc010shk.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(832-834)Cca>Gca		Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.							78	103	95					12																	11546180		2058	4159	6217	SO:0001583	missense	653247							g.chr12:11546180G>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.832C>G	12.37:g.11546180G>C	ENSP00000374013:p.Pro278Ala		Somatic					p.P278A	NM_006248	NP_006239	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	867	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.832C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	6.886	0.532935	0.13188	.	.	ENSG00000121335	ENST00000389362	T	0.04862	3.54	1.42	1.42	0.22433	.	0.379473	0.08080	U	1.000000	T	0.06325	0.0163	M	0.70595	2.14	0.09310	N	1	P	0.39424	0.673	B	0.32583	0.148	T	0.30995	-0.9959	10	0.02654	T	1	.	6.7415	0.23439	0.0:0.0:1.0:0.0	.	278	P02812	PRB2_HUMAN	A	278	ENSP00000374013:P278A	ENSP00000374013:P278A	P	-	1	0	PRB2	11437447	0.000000	0.05858	0.003000	0.11579	0.334000	0.28698	-0.838000	0.04372	0.696000	0.31696	0.175000	0.17021	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		84	201	0	0	0	1	0	84	201					C	11546180	G	C	11546180	3	2	183	1	0	0	0	0	1	0	0	0	12443	1232	43	4	422	4	PRB2	12	11546180	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		11546180	122305715	9	3216											
METT11D1	64745	broad.mit.edu	37	14	21465001	21465001	+	Silent	SNP	T	T	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr14:21465001T>C	ENST00000339374.6	+	14	1556	c.1323T>C	c.(1321-1323)acT>acC	p.T441T	SLC39A2_ENST00000554422.1_5'Flank|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.T432T|METTL17_ENST00000382985.4_Missense_Mutation_p.S466P	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	441					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTGTGCTTACTCCGTCTGCGT	0.527																																						uc001vyo.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1396-1398)Tcc>Ccc		Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.							163	136	145					14																	21465001		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21465001T>C	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1323T>C	14.37:g.21465001T>C			Somatic				METTL17_uc001vym.3_Silent_p.T432T|METTL17_uc001vyn.3_Silent_p.T441T|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	p.S466P	NM_001029991	NP_001025162	WXS	Illumina GAIIx	Phase_I	Q9H7H0	MET17_HUMAN			12	1593	+			0					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.1396T>C	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385708	0.42308	.	.	ENSG00000165792	ENST00000382985;ENST00000556733	T	0.34859	1.34	5.37	-0.0828	0.13697	.	.	.	.	.	T	0.26376	0.0644	.	.	.	0.09310	N	1	P	0.36249	0.545	B	0.36289	0.221	T	0.19943	-1.0290	8	0.87932	D	0	.	5.2749	0.15643	0.3166:0.0:0.2466:0.4368	.	466	Q9H7H0-3	.	P	466;108	ENSP00000372445:S466P	ENSP00000372445:S466P	S	+	1	0	METTL17	20534841	0.000000	0.05858	0.022000	0.16811	0.152000	0.21847	-1.523000	0.02235	0.040000	0.15660	0.533000	0.62120	TCC		0.527	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		3	110	0	0	0	1	0	3	110					C	21465001	T	C	21465001	2	2	183	1	0	0	0	0	0	0	0	1	9491	1551	54	3		3	METT11D1	14	21465001	Silent	SNP	T	TCGA-EL-A3GX-01A-11D-A202-08		21465001	85884539	10	3217											
C19orf2	8725	broad.mit.edu	37	19	30477203	30477203	+	Silent	SNP	T	T	C			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr19:30477203T>C	ENST00000542441.2	+	4	543	c.246T>C	c.(244-246)ccT>ccC	p.P82P	URI1_ENST00000360605.4_Silent_p.P64P|URI1_ENST00000312051.6_Silent_p.P42P|URI1_ENST00000392271.1_Silent_p.P6P			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	82					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.P82P(1)									CATTTGGCCCTTTTGCCTTCA	0.363																																						uc002nsr.3																			1	Substitution - coding silent(1)	p.P82P(1)	kidney(1)								c.(244-246)ccT>ccC		Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA.							126	120	122					19																	30477203		2203	4300	6503	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30477203T>C	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.246T>C	19.37:g.30477203T>C			Somatic				URI1_uc002nsq.3_Silent_p.P64P|URI1_uc002nss.3_Silent_p.P42P|URI1_uc002nst.3_Silent_p.P6P	p.P82P	NM_003796	NP_003787	WXS	Illumina GAIIx	Phase_I	O94763	RMP_HUMAN			3	555	+			82					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.246T>C	CCDS12420.1																																																																																				0.363	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		3	96	0	0	0	1	0	3	96					C	30477203	T	C	30477203	2	2	183	1	0	0	0	0	0	0	0	1	1911	1596	56	3		3	C19orf2	19	30477203	Silent	SNP	T	TCGA-EL-A3GX-01A-11D-A202-08		30477203	28651780	11	3218											
CEACAM5	1048	broad.mit.edu	37	19	42224846	42224846	+	Silent	SNP	G	G	A			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr19:42224846G>A	ENST00000221992.6	+	8	1890	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	CEACAM5_ENST00000405816.1_Silent_p.G592G|CEACAM5_ENST00000398599.4_Silent_p.G591G|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	592	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCCAGATGGGCCGGACACCC	0.557																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1774-1776)ggG>ggA		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.							127	134	131					19																	42224846		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224846G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1776G>A	19.37:g.42224846G>A			Somatic				CEACAM5_uc002orj.1_Silent_p.G591G	p.G592G	NM_004363	NP_004354	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1897	+			592			Ig-like 6.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1776G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	g	2.345	-0.350255	0.05173	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.17	-1.35	0.09114	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	.	2.7715	0.05336	0.0:0.3989:0.2535:0.3477	.	.	.	.	T	588	.	.	A	+	1	0	CEACAM5	46916686	0.923000	0.31300	0.002000	0.10522	0.076000	0.17211	0.112000	0.15479	-0.267000	0.09325	-0.370000	0.07254	GCC		0.557	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		98	147	0	0	0	1	0	98	147					A	42224846	G	A	42224846	2	1	183	1	0	0	0	0	0	0	0	1	3195	1190	42	2		2	CEACAM5	19	42224846	Silent	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08	11747643	42224846	16904137	12	3219											
RNF215	200312	broad.mit.edu	37	22	30782087	30782089	+	In_Frame_Del	DEL	AGA	AGA	-	rs5997629	byFrequency	TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chr22:30782087_30782089delAGA	ENST00000382363.3	-	3	545_547	c.471_473delTCT	c.(469-474)cttctc>ctc	p.157_158LL>L		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	157						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTTCAGGATGAGAAGAAGCAGGG	0.606																																						uc003ahp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(469-474)cttctc>ctc		Homo sapiens ring finger protein 215 (RNF215), mRNA.																																				SO:0001651	inframe_deletion	200312					integral to membrane	zinc ion binding	g.chr22:30782087_30782089delAGA		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.471_473delTCT	22.37:g.30782090_30782092delAGA	ENSP00000371800:p.Leu158del		Somatic				RNF215_uc011akw.2_In_Frame_Del_p.62_63LL>L	p.157_158LL>L	NM_001017981	NP_001017981	WXS	Illumina GAIIx	Phase_I	Q9Y6U7	RN215_HUMAN			2	471_473	-			157					A6NEL1	In_Frame_Del	DEL	ENST00000382363.3	37	c.471_473delTCT	CCDS33633.1																																																																																				0.606	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		10	12						10	12	---	---	---	---	-	30782089	AGA	-	30782087	7	5	183	1	0	1	0	1	0	0	0	0	13479	304	11	0	688	0	RNF215	22	30782087	In_Frame_Del	DEL	AGA	TCGA-EL-A3GX-01A-11D-A202-08		30782087	20522479	13	3220											
MAP7D2	256714	broad.mit.edu	37	X	20029036	20029036	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GX-01A-11D-A202-08	TCGA-EL-A3GX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e97b18a0-36d2-43ab-88cf-0e188dbf0cac	cc166057-aced-4aaf-80ad-22f9d0414d10	g.chrX:20029036G>A	ENST00000379651.3	-	15	2102	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	MAP7D2_ENST00000543767.1_Missense_Mutation_p.P580L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P650L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P643L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P736L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	695					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						GAATGTCGGGGGACCAGTGAA	0.463																																						uc010nfo.2																			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.(2206-2208)cCc>cTc		Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.							100	93	95					X																	20029036		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20029036G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.2084C>T	X.37:g.20029036G>A	ENSP00000368972:p.Pro695Leu		Somatic				MAP7D2_uc004czq.2_Missense_Mutation_p.P580L|MAP7D2_uc011mji.2_Missense_Mutation_p.P643L|MAP7D2_uc004czr.2_Missense_Mutation_p.P695L|MAP7D2_uc011mjj.2_Missense_Mutation_p.P650L	p.P736L	NM_001168465	NP_001161937	WXS	Illumina GAIIx	Phase_I	Q96T17	MA7D2_HUMAN			15	2324	-			695					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.2207C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286118	0.59867	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.39	5.39	0.77823	.	0.078744	0.53938	D	0.000041	D	0.90597	0.7052	L	0.60455	1.87	0.46609	D	0.999124	D;D;D;D;D	0.65815	0.988;0.993;0.993;0.995;0.993	P;P;P;P;P	0.61940	0.791;0.896;0.896;0.791;0.896	D	0.90794	0.4689	10	0.54805	T	0.06	-10.6577	12.8422	0.57809	0.0:0.0:0.6799:0.3201	.	650;643;736;695;580	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	695;736;580;650;378;643	ENSP00000368972:P695L;ENSP00000368964:P736L;ENSP00000440691:P580L;ENSP00000388239:P650L;ENSP00000413301:P643L	ENSP00000368964:P736L	P	-	2	0	MAP7D2	19938957	1.000000	0.71417	0.952000	0.39060	0.876000	0.50452	3.819000	0.55686	2.268000	0.75426	0.525000	0.51046	CCC		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		53	84	0	0	0	1	0	53	84					A	20029036	G	A	20029036	3	1	183	1	0	0	0	0	1	0	0	0	9268	1232	43	2	118	2	MAP7D2	23	20029036	Missense_Mutation	SNP	G	TCGA-EL-A3GX-01A-11D-A202-08		20029036	135241524	14	3221											
NADK	65220	broad.mit.edu	37	1	1686902	1686902	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:1686902G>A	ENST00000341426.5	-	7	820	c.599C>T	c.(598-600)cCg>cTg	p.P200L	NADK_ENST00000341991.3_Missense_Mutation_p.P200L|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000342348.5_Missense_Mutation_p.P168L|NADK_ENST00000344463.4_Missense_Mutation_p.P345L|NADK_ENST00000378625.1_Missense_Mutation_p.P345L	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	200					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-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;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCATGACCGGAGGGACGCT	0.617																																						uc001aie.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1033-1035)cCg>cTg		Homo sapiens NAD kinase (NADK), transcript variant 3, mRNA.							133	133	133					1																	1686902		2203	4300	6503	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding	g.chr1:1686902G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.599C>T	1.37:g.1686902G>A	ENSP00000341679:p.Pro200Leu		Somatic				NADK_uc001aic.3_Missense_Mutation_p.P200L|NADK_uc001aid.4_Missense_Mutation_p.P200L|NADK_uc010nyv.2_Missense_Mutation_p.P168L|NADK_uc009vkx.1_Missense_Mutation_p.P78L	p.P345L	NM_001198994	NP_001185923	WXS	Illumina GAIIx	Phase_I	O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	8	1239	-	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;5.61e-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)	200					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.1034C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348749	0.82132	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.11	4.2	0.49525	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	H	0.94771	3.58	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	D	0.88917	0.3363	10	0.87932	D	0	-29.967	12.5913	0.56445	0.082:0.0:0.918:0.0	.	168;345;345;200	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	L	200;200;345;345;168;168	ENSP00000341679:P200L;ENSP00000344340:P200L;ENSP00000367890:P345L;ENSP00000340925:P345L;ENSP00000339727:P168L;ENSP00000383713:P168L	ENSP00000341679:P200L	P	-	2	0	NADK	1676762	1.000000	0.71417	0.956000	0.39512	0.811000	0.45836	9.385000	0.97223	1.289000	0.44618	0.462000	0.41574	CCG		0.617	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		4	195	0	0	0	1	0	4	195					A	1686902	G	A	1686902	3	1	184	1	0	0	0	0	1	0	0	0	10137	1116	39	1	765	1	NADK	1	1686902	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		1686902	247563719	1	3222											
LRRC42	115353	broad.mit.edu	37	1	54426067	54426067	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:54426067A>T	ENST00000371370.3	+	5	1165	c.644A>T	c.(643-645)gAt>gTt	p.D215V	LRRC42_ENST00000319223.4_Missense_Mutation_p.D215V	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	215										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTTATCTGATGCTGGGGTG	0.368																																						uc001cwj.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(643-645)gAt>gTt		Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.							140	139	139					1																	54426067		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54426067A>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.644A>T	1.37:g.54426067A>T	ENSP00000360421:p.Asp215Val		Somatic				LRRC42_uc001cwk.1_Missense_Mutation_p.D215V	p.D215V	NM_052940	NP_443172	WXS	Illumina GAIIx	Phase_I	Q9Y546	LRC42_HUMAN			3	844	+			215					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.644A>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.709431	0.89018	.	.	ENSG00000116212	ENST00000371370;ENST00000319223;ENST00000444987	T;T;T	0.33216	5.32;5.32;1.42	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	L	0.29908	0.895	0.80722	D	1	D;D	0.59767	0.986;0.977	D;P	0.63957	0.92;0.834	T	0.33803	-0.9854	10	0.62326	D	0.03	-19.0308	16.5479	0.84454	1.0:0.0:0.0:0.0	.	215;215	E7EP35;Q9Y546	.;LRC42_HUMAN	V	215	ENSP00000360421:D215V;ENSP00000318185:D215V;ENSP00000389368:D215V	ENSP00000318185:D215V	D	+	2	0	LRRC42	54198655	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.090000	0.89526	2.371000	0.80710	0.533000	0.62120	GAT		0.368	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		22	140	0	0	0	1	0	22	140					T	54426067	A	T	54426067	3	4	184	1	0	0	0	0	1	0	0	0	9000	333	12	5	654	5	LRRC42	1	54426067	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	52739165	54426067	194824554	2	3223											
MAGI3	260425	broad.mit.edu	37	1	114196558	114196558	+	Silent	SNP	C	C	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:114196558C>A	ENST00000307546.9	+	15	2622	c.2547C>A	c.(2545-2547)ccC>ccA	p.P849P	MAGI3_ENST00000369617.4_Silent_p.P874P|MAGI3_ENST00000369615.1_Silent_p.P849P|MAGI3_ENST00000369611.4_Silent_p.P849P	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	874					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAGGAGCCCTATGATGTTG	0.522																																						uc001edk.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2545-2547)ccC>ccA		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							202	214	210					1																	114196558		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114196558C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2547C>A	1.37:g.114196558C>A			Somatic				MAGI3_uc001edh.3_Silent_p.P874P|MAGI3_uc001edi.4_Silent_p.P849P|MAGI3_uc010owm.2_Silent_p.P874P|MAGI3_uc001edj.3_Silent_p.P570P	p.P849P	NM_001142782	NP_001136254	WXS	Illumina GAIIx	Phase_I	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2728	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	874					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2547C>A	CCDS44196.1																																																																																				0.522	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		5	429	0	0	0	1	0	5	429					A	114196558	C	A	114196558	2	1	184	1	0	0	0	0	0	0	0	1	9192	668	24	4		4	MAGI3	1	114196558	Silent	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	59770491	114196558	135054063	3	3224											
CD48	962	broad.mit.edu	37	1	160651146	160651146	+	Silent	SNP	A	A	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:160651146A>G	ENST00000368046.3	-	3	585	c.498T>C	c.(496-498)taT>taC	p.Y166Y	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	166	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTTTGTCCCCATACCAGGTGT	0.448																																						uc001fwo.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(496-498)taT>taC		Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.							171	158	162					1																	160651146		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651146A>G	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.498T>C	1.37:g.160651146A>G			Somatic				CD48_uc001fwn.3_Silent_p.Y166Y	p.Y166Y	NM_001778	NP_001769	WXS	Illumina GAIIx	Phase_I	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	530	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		166			Ig-like C2-type 2.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.498T>C	CCDS1208.1																																																																																				0.448	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	230	0	0	0	1	0	4	230					G	160651146	A	G	160651146	2	3	184	1	0	0	0	0	0	0	0	1	3020	224	8	3		3	CD48	1	160651146	Silent	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	46454588	160651146	88599475	4	3225											
PM20D1	148811	broad.mit.edu	37	1	205814502	205814502	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr1:205814502T>C	ENST00000367136.4	-	3	484	c.440A>G	c.(439-441)gAt>gGt	p.D147G	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	147					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGATGCCATCACGCTCCAA	0.567																																						uc001hdj.3																			0		p.R146C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(439-441)gAt>gGt		Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.							105	100	101					1																	205814502		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205814502T>C		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.440A>G	1.37:g.205814502T>C	ENSP00000356104:p.Asp147Gly		Somatic				PM20D1_uc009xbr.3_Non-coding_Transcript	p.D147G	NM_152491	NP_689704	WXS	Illumina GAIIx	Phase_I	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	516	-	Breast(84;0.201)		147					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.440A>G	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	T	9.945	1.218526	0.22373	.	.	ENSG00000162877	ENST00000367136	T	0.09538	2.97	6.04	4.91	0.64330	.	0.344279	0.36519	N	0.002557	T	0.11239	0.0274	L	0.41027	1.25	0.32759	N	0.505402	B	0.31581	0.329	B	0.36766	0.232	T	0.13980	-1.0489	10	0.19590	T	0.45	.	11.9696	0.53055	0.0:0.0681:0.0:0.9319	.	147	Q6GTS8	P20D1_HUMAN	G	147	ENSP00000356104:D147G	ENSP00000356104:D147G	D	-	2	0	PM20D1	204081125	1.000000	0.71417	0.868000	0.34077	0.000000	0.00434	4.587000	0.60991	1.102000	0.41551	-0.441000	0.05720	GAT		0.567	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		4	172	0	0	0	1	0	4	172					C	205814502	T	C	205814502	3	2	184	1	0	0	0	0	1	0	0	0	12128	1435	50	3	1112	3	PM20D1	1	205814502	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08	45163356	205814502	43436119	5	3226											
MBOAT2	129642	broad.mit.edu	37	2	9083336	9083336	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:9083336T>C	ENST00000305997.3	-	3	477	c.279A>G	c.(277-279)atA>atG	p.I93M	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	93					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCCACTCCTATGATGATCA	0.318																																					Ovarian(194;1699 3813 22401)	uc002qzg.1																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(277-279)atA>atG		Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.							91	86	88					2																	9083336		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9083336T>C	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.279A>G	2.37:g.9083336T>C	ENSP00000302177:p.Ile93Met		Somatic				MBOAT2_uc010yix.1_Missense_Mutation_p.I93M	p.I93M	NM_138799	NP_620154	WXS	Illumina GAIIx	Phase_I	Q6ZWT7	MBOA2_HUMAN			2	412	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		93					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.279A>G	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272224	0.40194	.	.	ENSG00000143797	ENST00000305997;ENST00000462696	T	0.10288	2.89	4.62	2.2	0.27929	.	0.539104	0.20312	N	0.094805	T	0.08088	0.0202	L	0.34521	1.04	0.26431	N	0.97594	B;P	0.38300	0.396;0.626	B;B	0.39068	0.289;0.289	T	0.23013	-1.0200	10	0.34782	T	0.22	-10.2583	6.1299	0.20199	0.1438:0.0799:0.0:0.7763	.	93;93	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	M	93;70	ENSP00000302177:I93M	ENSP00000302177:I93M	I	-	3	3	MBOAT2	9000787	0.990000	0.36364	0.936000	0.37596	0.952000	0.60782	0.717000	0.25851	0.283000	0.22279	0.459000	0.35465	ATA		0.318	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		3	105	0	0	0	1	0	3	105					C	9083336	T	C	9083336	3	2	184	1	0	0	0	0	1	0	0	0	9357	1512	53	3	1327	3	MBOAT2	2	9083336	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		9083336	234116037	6	3227											
USP34	9736	broad.mit.edu	37	2	61417450	61417450	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr2:61417450A>G	ENST00000398571.2	-	78	9905	c.9829T>C	c.(9829-9831)Tcc>Ccc	p.S3277P	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3277					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)			ACTCGGTTGGAGAAATCAGAC	0.408																																						uc002sbe.3																			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.(9829-9831)Tcc>Ccc		Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.							115	108	110					2																	61417450		1826	4092	5918	SO:0001583	missense	9736				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61417450A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9829T>C	2.37:g.61417450A>G	ENSP00000381577:p.Ser3277Pro		Somatic				USP34_uc002sbd.3_Missense_Mutation_p.S79P	p.S3277P	NM_014709	NP_055524	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		77	9851	-			3277					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9829T>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.48|12.48	1.951867|1.951867	0.34471|0.34471	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.67865	.|-0.29	5.87|5.87	3.42|3.42	0.39159|0.39159	.|.	.|0.330309	.|0.38381	.|N	.|0.001720	T|T	0.33760|0.33760	0.0874|0.0874	N|N	0.02011|0.02011	-0.69|-0.69	0.25825|0.25825	N|N	0.984232|0.984232	.|B	.|0.17268	.|0.021	.|B	.|0.17722	.|0.019	T|T	0.15350|0.15350	-1.0440|-1.0440	5|10	.|0.30854	.|T	.|0.27	.|.	4.1964|4.1964	0.10445|0.10445	0.2718:0.1331:0.0:0.5952|0.2718:0.1331:0.0:0.5952	.|.	.|3277	.|Q70CQ2	.|UBP34_HUMAN	P|P	953|3125;3042;3277;155	.|ENSP00000381577:S3277P	.|ENSP00000263989:S3125P	L|S	-|-	2|1	0|0	USP34|USP34	61270954|61270954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.755000|1.755000	0.38379|0.38379	0.515000|0.515000	0.28320|0.28320	-0.339000|-0.339000	0.08088|0.08088	CTC|TCC		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	148	0	0	0	1	0	3	148					G	61417450	A	G	61417450	3	3	184	1	0	0	0	0	1	0	0	0	17062	304	11	3	823	3	USP34	2	61417450	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	52334114	61417450	181781923	7	3228											
ATP13A4	84239	broad.mit.edu	37	3	193120598	193120598	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr3:193120598T>C	ENST00000342695.4	-	30	3756	c.3434A>G	c.(3433-3435)tAt>tGt	p.Y1145C	ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y1126C|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Y161C|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1145						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTTTGACTGATAGCCGAAACA	0.443																																						uc003ftd.3																			0		p.G1144D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3433-3435)tAt>tGt		Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.							82	80	80					3																	193120598		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193120598T>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3434A>G	3.37:g.193120598T>C	ENSP00000339182:p.Tyr1145Cys		Somatic				ATP13A4_uc010hzi.3_Non-coding_Transcript	p.Y1145C	NM_032279	NP_115655	WXS	Illumina GAIIx	Phase_I	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	29	3542	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1145					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3434A>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322831	0.23994	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.59502	0.26;0.26;0.26	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000013	T	0.47173	0.1431	L	0.29908	0.895	0.80722	D	1	B	0.18166	0.026	B	0.23419	0.046	T	0.40496	-0.9560	10	0.39692	T	0.17	-22.3835	13.5323	0.61629	0.0:0.0:0.0:1.0	.	1145	Q4VNC1	AT134_HUMAN	C	161;1126;1145	ENSP00000383129:Y161C;ENSP00000376238:Y1126C;ENSP00000339182:Y1145C	ENSP00000339182:Y1145C	Y	-	2	0	ATP13A4	194603292	0.983000	0.35010	0.990000	0.47175	0.211000	0.24417	1.675000	0.37555	2.136000	0.66102	0.486000	0.48141	TAT		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		3	71	0	0	0	1	0	3	71					C	193120598	T	C	193120598	3	2	184	1	0	0	0	0	1	0	0	0	1126	1406	49	3	160	3	ATP13A4	3	193120598	Missense_Mutation	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		193120598	4901832	8	3229											
UGT2A2	10941	broad.mit.edu	37	4	70505149	70505149	+	Intron	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr4:70505149G>A	ENST00000503640.1	-	1	771				UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Silent_p.I271I|UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Silent_p.I70I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATTGGAGTTGATGAATAGAG	0.358																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(811-813)atC>atT		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							134	133	133					4																	70505149		1860	4092	5952	SO:0001627	intron_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70505149G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7498C>T	4.37:g.70505149G>A			Somatic				UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Silent_p.I70I|UGT2A1_uc021xox.1_Silent_p.I70I|UGT2A1_uc010iht.3_Intron	p.I271I	NM_001252274	NP_001239203	WXS	Illumina GAIIx	Phase_I	Q9Y4X1	UD2A1_HUMAN			2	929	-			61					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.813C>T	CCDS3529.1																																																																																				0.358	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		8	133	0	0	0	1	0	8	133					A	70505149	G	A	70505149	1	1	184	0	1	0	0	0	0	0	0	0	16951	1280	45	2		2	UGT2A2	4	70505149	Intron	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		70505149	120649127	9	3230											
PCDHGA5	56110	broad.mit.edu	37	5	140745315	140745315	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr5:140745315C>G	ENST00000518069.1	+	1	1418	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	473	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATCTTCTCTGTGACAGCC	0.532																																						uc003lju.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1417-1419)tCt>tGt		Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.							120	129	126					5																	140745315		1963	4176	6139	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745315C>G	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1418C>G	5.37:g.140745315C>G	ENSP00000429834:p.Ser473Cys		Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.S473C	p.S473C	NM_018918	NP_061741	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1418	+			475			Cadherin 5.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1418C>G	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	8.138	0.784536	0.16189	.	.	ENSG00000253485	ENST00000518069	T	0.01887	4.58	5.18	4.24	0.50183	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.05135	0.0137	L	0.58925	1.835	0.09310	N	1	P;B	0.37636	0.603;0.203	B;B	0.41135	0.348;0.288	T	0.16689	-1.0394	9	0.66056	D	0.02	.	14.5741	0.68232	0.0:0.7177:0.2823:0.0	.	473;473	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	C	473	ENSP00000429834:S473C	ENSP00000429834:S473C	S	+	2	0	PCDHGA5	140725499	0.000000	0.05858	0.820000	0.32676	0.464000	0.32679	0.182000	0.16900	2.570000	0.86706	0.563000	0.77884	TCT		0.532	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		16	275	0	0	0	1	0	16	275					G	140745315	C	G	140745315	3	3	184	1	0	0	0	0	1	0	0	0	11557	913	32	4	1420	4	PCDHGA5	5	140745315	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		140745315	40169945	10	3231											
BTN2A1	11120	broad.mit.edu	37	6	26465519	26465519	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr6:26465519A>T	ENST00000312541.5	+	5	1067	c.819A>T	c.(817-819)caA>caT	p.Q273H	BTN2A1_ENST00000469185.1_Missense_Mutation_p.Q273H|BTN2A1_ENST00000541522.1_Missense_Mutation_p.Q212H|BTN2A1_ENST00000429381.1_Missense_Mutation_p.Q273H	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	273					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						ACAAACTCCAAAAGGAAAAAA	0.433																																						uc003nib.2																			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.(817-819)caA>caT		Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.							136	138	137					6																	26465519		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465519A>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.819A>T	6.37:g.26465519A>T	ENSP00000312158:p.Gln273His		Somatic				BTN2A1_uc021yni.1_Missense_Mutation_p.Q273H|BTN2A1_uc003nic.2_Missense_Mutation_p.Q273H|BTN2A1_uc011dko.2_Missense_Mutation_p.Q212H	p.Q273H	NM_007049	NP_001184162	WXS	Illumina GAIIx	Phase_I	Q7KYR7	BT2A1_HUMAN			4	1067	+			273					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.819A>T	CCDS4613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.771|5.771	0.326684|0.326684	0.10900|0.10900	.|.	.|.	ENSG00000112763|ENSG00000112763	ENST00000480218|ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	.|T;T;T;T	.|0.76839	.|-0.49;1.09;-1.05;-1.03	3.78|3.78	-5.26|-5.26	0.02772|0.02772	.|.	.|0.454507	.|0.18608	.|N	.|0.136232	T|T	0.32346|0.32346	0.0826|0.0826	L|L	0.41356|0.41356	1.27|1.27	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.0;0.0;0.001	.|B;B;B	.|0.06405	.|0.001;0.002;0.001	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.15066	.|T	.|0.55	.|.	1.9264|1.9264	0.03318|0.03318	0.138:0.272:0.1269:0.4631|0.138:0.272:0.1269:0.4631	.|.	.|212;273;273	.|B4DLP9;Q96AV7;Q7KYR7	.|.;.;BT2A1_HUMAN	I|H	22|273;212;273;259;273	.|ENSP00000312158:Q273H;ENSP00000443909:Q212H;ENSP00000416945:Q273H;ENSP00000419043:Q273H	.|ENSP00000265424:Q259H	K|Q	+|+	2|3	0|2	BTN2A1|BTN2A1	26573498|26573498	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-2.644000|-2.644000	0.00862|0.00862	-1.504000|-1.504000	0.01810|0.01810	-0.714000|-0.714000	0.03626|0.03626	AAA|CAA		0.433	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		11	166	0	0	0	1	0	11	166					T	26465519	A	T	26465519	3	4	184	1	0	0	0	0	1	0	0	0	1560	11	1	5	833	5	BTN2A1	6	26465519	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		26465519	144649548	11	3232											
ETV1	2115	broad.mit.edu	37	7	13971268	13971268	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:13971268G>C	ENST00000430479.1	-	9	1328	c.661C>G	c.(661-663)Ccc>Gcc	p.P221A	ETV1_ENST00000343495.5_Missense_Mutation_p.P203A|ETV1_ENST00000405218.2_Missense_Mutation_p.P221A|ETV1_ENST00000420159.2_Missense_Mutation_p.P163A|ETV1_ENST00000403685.1_Missense_Mutation_p.P203A|ETV1_ENST00000242066.5_Missense_Mutation_p.P203A|ETV1_ENST00000405192.2_Missense_Mutation_p.P221A|ETV1_ENST00000403527.1_Missense_Mutation_p.P181A|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.P118A|ETV1_ENST00000405358.4_Missense_Mutation_p.P235A	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	221					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGGGAAGGGGATGTTTGGC	0.552			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	uc021zzz.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(661-663)Ccc>Gcc		Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.							146	143	144					7																	13971268		2024	4193	6217	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971268G>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.661C>G	7.37:g.13971268G>C	ENSP00000405327:p.Pro221Ala		Somatic				ETV1_uc021zzt.1_Missense_Mutation_p.P181A|ETV1_uc021zzu.1_Missense_Mutation_p.P118A|ETV1_uc021zzv.1_Missense_Mutation_p.P163A|ETV1_uc021zzw.1_Missense_Mutation_p.P181A|ETV1_uc021zzx.1_Missense_Mutation_p.P118A|ETV1_uc021zzy.1_Missense_Mutation_p.P163A|ETV1_uc022aaa.1_Missense_Mutation_p.P203A|ETV1_uc022aab.1_Missense_Mutation_p.P221A|ETV1_uc003ssw.4_Missense_Mutation_p.P221A|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P203A|ETV1_uc022aad.1_Missense_Mutation_p.P203A|ETV1_uc010ktv.3_Missense_Mutation_p.P90A	p.P221A	NM_004956	NP_004947	WXS	Illumina GAIIx	Phase_I	P50549	ETV1_HUMAN			6	748	-			221					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.661C>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347044	0.82022	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.051858	0.85682	D	0.000000	T	0.55273	0.1910	M	0.73598	2.24	0.80722	D	1	B;B;P;D;B;B;B;B	0.71674	0.349;0.009;0.489;0.998;0.314;0.349;0.005;0.011	B;B;B;D;B;B;B;B	0.78314	0.171;0.012;0.253;0.991;0.423;0.298;0.018;0.021	T	0.51100	-0.8748	10	0.59425	D	0.04	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	232;203;235;163;118;181;163;221	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	A	221;203;203;163;118;221;235;181;221;203;163;118	ENSP00000405327:P221A;ENSP00000242066:P203A;ENSP00000340853:P203A;ENSP00000411626:P163A;ENSP00000382293:P118A;ENSP00000385381:P221A;ENSP00000384085:P235A;ENSP00000384138:P181A;ENSP00000385551:P221A;ENSP00000385686:P203A;ENSP00000393078:P163A;ENSP00000394710:P118A	ENSP00000242066:P203A	P	-	1	0	ETV1	13937793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.225000	0.95219	2.932000	0.99384	0.644000	0.83932	CCC		0.552	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		5	58	0	0	0	1	0	5	58					C	13971268	G	C	13971268	3	2	184	1	0	0	0	0	1	0	0	0	5277	1232	43	4	796	4	ETV1	7	13971268	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		13971268	145167395	12	3233											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	63	0	0	0	1	0	32	63					T	140453136	A	T	140453136	3	4	184	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08	126481868	140453136	18685527	13	3234											
NBN	4683	broad.mit.edu	37	8	90958472	90958472	+	Silent	SNP	A	A	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:90958472A>G	ENST00000265433.3	-	13	2120	c.1966T>C	c.(1966-1968)Ttg>Ctg	p.L656L	NBN_ENST00000409330.1_Silent_p.L574L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	656					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)			AATTCAGTCAATAACAGCTTT	0.318								Homologous recombination																														uc003yej.1																			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.(1966-1968)Ttg>Ctg	Homologous recombination	Homo sapiens nibrin (NBN), mRNA.							121	125	123					8																	90958472		2203	4299	6502	SO:0001819	synonymous_variant	4683				DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|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.chr8:90958472A>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1966T>C	8.37:g.90958472A>G			Somatic				NBN_uc011lgb.1_Silent_p.L656L|NBN_uc003yei.1_Silent_p.L574L	p.L656L	NM_002485	NP_002476	WXS	Illumina GAIIx	Phase_I	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		12	2076	-			656					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.1966T>C	CCDS6249.1																																																																																				0.318	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		4	146	0	0	0	1	0	4	146					G	90958472	A	G	90958472	2	3	184	1	0	0	0	0	0	0	0	1	10191	98	4	3		3	NBN	8	90958472	Silent	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		90958472	55405550	14	3235											
EIF2C2	27161	broad.mit.edu	37	8	141549494	141549494	+	Silent	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr8:141549494G>A	ENST00000220592.5	-	16	2206	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	AGO2_ENST00000519980.1_Silent_p.Y698Y	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	698	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)										TCCCGGGCTGGTAGTCTTTTT	0.557																																						uc003yvn.3																			0				NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2092-2094)taC>taT		Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.							105	92	96					8																	141549494		2203	4300	6503	SO:0001819	synonymous_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity	g.chr8:141549494G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2094C>T	8.37:g.141549494G>A			Somatic				EIF2C2_uc010meo.3_Silent_p.Y698Y|EIF2C2_uc010men.3_Silent_p.Y621Y	p.Y698Y	NM_012154	NP_036286	WXS	Illumina GAIIx	Phase_I	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		15	2135	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	698			Piwi.		Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.2094C>T	CCDS6380.1																																																																																				0.557	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			11	105	0	0	0	1	0	11	105					A	141549494	G	A	141549494	2	1	184	1	0	0	0	0	0	0	0	1	5006	1256	44	2		2	EIF2C2	8	141549494	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	50591022	141549494	4814528	15	3236											
ABL1	25	broad.mit.edu	37	9	133753888	133753888	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr9:133753888G>A	ENST00000318560.5	+	8	1738	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.E453Q(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGAGCTGCTAGAGAAGGACTA	0.507			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	uc004bzv.3				Dom	yes		9	9q34.1	25	"T, Mis"	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"BCR, ETV6, NUP214"		"CML, ALL, T-ALL"		1	Substitution - Missense(1)	p.E453Q(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1414-1416)Gag>Aag		Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						171	168	169					9																	133753888		2203	4300	6503	SO:0001583	missense	25				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	g.chr9:133753888G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1357G>A	9.37:g.133753888G>A	ENSP00000323315:p.Glu453Lys		Somatic				ABL1_uc004bzw.3_Missense_Mutation_p.E453K	p.E472K	NM_007313	NP_009297	WXS	Illumina GAIIx	Phase_I	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	7	1853	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	453			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1414G>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200620	0.94997	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.82255	-1.59;-1.59	5.01	4.11	0.48088	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108051	0.64402	D	0.000008	D	0.84991	0.5595	L	0.33485	1.01	0.80722	D	1	P;P	0.52842	0.956;0.956	P;D	0.64776	0.881;0.929	D	0.86242	0.1644	10	0.87932	D	0	.	12.6609	0.56813	0.0804:0.0:0.9196:0.0	.	453;490	P00519;Q59FK4	ABL1_HUMAN;.	K	268;472;453	ENSP00000361423:E472K;ENSP00000323315:E453K	ENSP00000323315:E453K	E	+	1	0	ABL1	132743709	1.000000	0.71417	0.990000	0.47175	0.893000	0.52053	7.885000	0.87282	1.236000	0.43740	0.655000	0.94253	GAG		0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		5	303	0	0	0	1	0	5	303					A	133753888	G	A	133753888	3	1	184	1	0	0	0	0	1	0	0	0	92	943	33	2	1527	2	ABL1	9	133753888	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		133753888	7459543	16	3237											
ITGB1	3688	broad.mit.edu	37	10	33215004	33215004	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr10:33215004G>C	ENST00000396033.2	-	6	716	c.581C>G	c.(580-582)cCt>cGt	p.P194R	ITGB1_ENST00000423113.1_Missense_Mutation_p.P194R|ITGB1_ENST00000374956.4_Missense_Mutation_p.P194R|ITGB1_ENST00000302278.3_Missense_Mutation_p.P194R|ITGB1_ENST00000484088.1_5'UTR	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	194	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GCTAATGTAAGGCATCACAGT	0.403																																						uc001iwr.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(580-582)cCt>cGt		Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1D, mRNA.							116	105	108					10																	33215004		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33215004G>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.581C>G	10.37:g.33215004G>C	ENSP00000379350:p.Pro194Arg		Somatic				ITGB1_uc001iws.4_Missense_Mutation_p.P194R|ITGB1_uc001iwt.4_Missense_Mutation_p.P194R	p.P194R	NM_033668	NP_391988	WXS	Illumina GAIIx	Phase_I	P05556	ITB1_HUMAN			4	581	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	194			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.581C>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993930	0.93167	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.74	5.74	0.90152	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	H	0.96048	3.76	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;0.999;1.0	D	0.99267	1.0892	10	0.87932	D	0	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	194;194;194;194;194	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	R	194	ENSP00000379350:P194R;ENSP00000388694:P194R;ENSP00000303351:P194R;ENSP00000364094:P194R	ENSP00000303351:P194R	P	-	2	0	ITGB1	33255010	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	CCT		0.403	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		6	108	0	0	0	1	0	6	108					C	33215004	G	C	33215004	3	2	184	1	0	0	0	0	1	0	0	0	7890	1000	35	4	2097	4	ITGB1	10	33215004	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		33215004	102319743	17	3238											
DLAT	1737	broad.mit.edu	37	11	111933176	111933176	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr11:111933176C>T	ENST00000280346.6	+	14	2520	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	DLAT_ENST00000537636.1_Missense_Mutation_p.R392W|DLAT_ENST00000393051.1_Missense_Mutation_p.R516W	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	621	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TTGTGATCACCGGGTGGTGGA	0.388																																						uc001pmo.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1861-1863)Cgg>Tgg		Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						174	179	178					11																	111933176		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111933176C>T	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1861C>T	11.37:g.111933176C>T	ENSP00000280346:p.Arg621Trp		Somatic				DLAT_uc010rwr.2_Missense_Mutation_p.R494W|DLAT_uc021qqn.1_Missense_Mutation_p.R565W	p.R621W	NM_001931	NP_001922	WXS	Illumina GAIIx	Phase_I	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	13	2520	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	621			Catalytic (By similarity).		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1861C>T	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884959	0.91814	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.98	5.07	0.68467	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	H	0.99764	4.76	0.80722	D	1	D;P;D	0.89917	1.0;0.634;1.0	D;B;D	0.87578	0.998;0.207;0.998	D	0.95193	0.8310	10	0.87932	D	0	-1.3782	15.3276	0.74179	0.0:0.933:0.0:0.067	.	621;516;621	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	W	621;516;453;392	ENSP00000280346:R621W;ENSP00000376771:R516W;ENSP00000433432:R453W;ENSP00000442427:R392W	ENSP00000280346:R621W	R	+	1	2	DLAT	111438386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.535000	0.53575	1.541000	0.49316	0.591000	0.81541	CGG		0.388	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		4	212	0	0	0	1	0	4	212					T	111933176	C	T	111933176	3	4	184	1	0	0	0	0	1	0	0	0	4549	643	23	1	1915	1	DLAT	11	111933176	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		111933176	23073340	18	3239											
HMGB1	3146	broad.mit.edu	37	13	31035567	31035569	+	In_Frame_Del	DEL	TCC	TCC	-	rs561533151	byFrequency	TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr13:31035567_31035569delTCC	ENST00000405805.1	-	5	1513_1515	c.573_575delGGA	c.(571-576)gaggaa>gaa	p.191_192EE>E	HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000339872.4_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000399494.1_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000341423.5_In_Frame_Del_p.191_192EE>E|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	191	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		ctcttcatcttcctcatcttcct	0.399														5	0.000998403	0	0	5008	,	,		19779	0.003		0	False		,,,				2504	0.002					uc001usz.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(571-576)gaggaa>gaa		Homo sapiens high mobility group box 1 (HMGB1), mRNA.				17,3581		6,5,1788						-5.2	0.9		dbSNP_129	17	17,7647		3,11,3818	no	coding	HMGB1	NM_002128.4		9,16,5606	A1A1,A1R,RR		0.2218,0.4725,0.3019				34,11228				SO:0001651	inframe_deletion	3146				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|dendritic cell chemotaxis|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of DNA binding|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	DNA bending activity|RAGE receptor binding|chemoattractant activity|cytokine activity|damaged DNA binding|double-stranded DNA binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035567_31035569delTCC	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.573_575delGGA	13.37:g.31035567_31035569delTCC	ENSP00000384678:p.Glu192del		Somatic				HMGB1_uc001usv.3_3'UTR|HMGB1_uc001usx.3_In_Frame_Del_p.191_192EE>E|HMGB1_uc001usy.3_In_Frame_Del_p.152_153EE>E|HMGB1_uc001uta.1_3'UTR	p.191_192EE>E	NM_002128	NP_002119	WXS	Illumina GAIIx	Phase_I	P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	4	745_747	-		Lung SC(185;0.0257)	191			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	In_Frame_Del	DEL	ENST00000405805.1	37	c.573_575delGGA	CCDS9335.1																																																																																				0.399	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		4	4						4	4	---	---	---	---	-	31035569	TCC	-	31035567	7	5	184	1	0	1	0	1	0	0	0	0	7225	1783	62	0	76	0	HMGB1	13	31035567	In_Frame_Del	DEL	TCC	TCGA-EL-A3GY-01A-21D-A202-08		31035567	84134311	19	3240											
NRXN3	9369	broad.mit.edu	37	14	79933743	79933743	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr14:79933743A>T	ENST00000557594.1	+	2	1380	c.427A>T	c.(427-429)Ata>Tta	p.I143L	NRXN3_ENST00000428277.2_Missense_Mutation_p.I143L|NRXN3_ENST00000335750.5_Missense_Mutation_p.I775L|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Missense_Mutation_p.I143L|NRXN3_ENST00000554719.1_Missense_Mutation_p.I775L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	143	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAGCTTCACATAGTGAGTAC	0.512																																						uc001xun.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(2323-2325)Ata>Tta		Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.							87	77	80					14																	79933743		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79933743A>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.427A>T	14.37:g.79933743A>T	ENSP00000451672:p.Ile143Leu		Somatic				NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.I143L|NRXN3_uc010asw.3_Missense_Mutation_p.I143L|NRXN3_uc001xur.4_Missense_Mutation_p.I143L	p.I775L	NM_004796	NP_004787	WXS	Illumina GAIIx	Phase_I	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	12	2814	+		Renal(4;0.00876)	143					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.2323A>T		.	.	.	.	.	.	.	.	.	.	A	29.4	5.001254	0.93227	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.71579	-0.11;-0.11;-0.58;-0.58;-0.58	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	L	0.58925	1.835	0.58432	D	0.999999	B;B;P;B	0.47191	0.006;0.143;0.891;0.029	B;B;D;P	0.71414	0.22;0.228;0.973;0.559	T	0.80362	-0.1414	9	.	.	.	.	16.3721	0.83368	1.0:0.0:0.0:0.0	.	143;143;143;775	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	L	1148;1137;775;775;143;143;143	ENSP00000451648:I775L;ENSP00000338349:I775L;ENSP00000451672:I143L;ENSP00000281127:I143L;ENSP00000394426:I143L	.	I	+	1	0	NRXN3	79003496	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.324000	0.96373	2.257000	0.74773	0.533000	0.62120	ATA		0.512	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		20	93	0	0	0	1	0	20	93					T	79933743	A	T	79933743	3	4	184	1	0	0	0	0	1	0	0	0	10667	217	8	5	2616	5	NRXN3	14	79933743	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		79933743	27415797	20	3241											
MAP1A	4130	broad.mit.edu	37	15	43816306	43816306	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:43816306C>A	ENST00000300231.5	+	4	3085	c.2635C>A	c.(2635-2637)Cgt>Agt	p.R879S	MAP1A_ENST00000399453.1_Missense_Mutation_p.R879S|MAP1A_ENST00000382031.1_Missense_Mutation_p.R1117S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	879					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCTTCCTCCCGTACTGAAGC	0.562																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2635-2637)Cgt>Agt		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						75	76	75					15																	43816306		2057	4211	6268	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816306C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2635C>A	15.37:g.43816306C>A	ENSP00000300231:p.Arg879Ser		Somatic					p.R879S	NM_002373	NP_002364	WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	3102	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	879					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2635C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616846	0.46736	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01560	4.77;4.77;4.77	4.71	4.71	0.59529	.	.	.	.	.	T	0.07458	0.0188	M	0.78637	2.42	0.42037	D	0.991057	D	0.58620	0.983	P	0.52309	0.695	T	0.04333	-1.0959	9	0.72032	D	0.01	-7.1246	17.8619	0.88784	0.0:1.0:0.0:0.0	.	879	P78559	MAP1A_HUMAN	S	1117;879;879	ENSP00000371462:R1117S;ENSP00000382380:R879S;ENSP00000300231:R879S	ENSP00000300231:R879S	R	+	1	0	MAP1A	41603598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.432000	0.82394	0.655000	0.94253	CGT		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	109	0	0	0	1	0	5	109					A	43816306	C	A	43816306	3	1	184	1	0	0	0	0	1	0	0	0	9227	652	23	4	2637	4	MAP1A	15	43816306	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08		43816306	58715086	21	3242											
CYP11A1	1583	broad.mit.edu	37	15	74659919	74659919	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:74659919G>C	ENST00000268053.6	-	1	162	c.8C>G	c.(7-9)gCc>gGc	p.A3G	CTD-2311M21.3_ENST00000568496.1_RNA|CYP11A1_ENST00000358632.4_5'Flank|CTD-2311M21.2_ENST00000562009.1_RNA|CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Missense_Mutation_p.A3G|CYP11A1_ENST00000419019.2_5'Flank	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	3					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AAGACCCTTGGCCAGCATGCT	0.627																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(7-9)gCc>gGc		Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						29	30	29					15																	74659919		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74659919G>C	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.8C>G	15.37:g.74659919G>C	ENSP00000268053:p.Ala3Gly		Somatic				CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.A3G	p.A3G	NM_000781	NP_001093243	WXS	Illumina GAIIx	Phase_I	P05108	CP11A_HUMAN			0	163	-			3					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.8C>G	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.173528	0.38413	.	.	ENSG00000140459	ENST00000268053;ENST00000541301;ENST00000433240;ENST00000416978	T;D;D	0.86694	-1.09;-1.97;-2.16	4.18	2.22	0.28083	.	0.381426	0.23731	N	0.045132	T	0.71307	0.3324	N	0.19112	0.55	0.22378	N	0.999154	P;P;P	0.39282	0.666;0.666;0.666	B;B;B	0.33339	0.162;0.115;0.115	T	0.60885	-0.7174	10	0.27082	T	0.32	-1.472	6.0008	0.19519	0.2516:0.0:0.7484:0.0	.	3;3;3	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	G	3	ENSP00000268053:A3G;ENSP00000439750:A3G;ENSP00000388018:A3G	ENSP00000268053:A3G	A	-	2	0	CYP11A1	72446972	0.696000	0.27757	0.388000	0.26195	0.117000	0.20001	1.168000	0.31859	0.363000	0.24346	0.543000	0.68304	GCC		0.627	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			9	38	0	0	0	1	0	9	38					C	74659919	G	C	74659919	3	2	184	1	0	0	0	0	1	0	0	0	4144	1203	42	4	1593	4	CYP11A1	15	74659919	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	30843613	74659919	27871473	22	3243											
TM2D3	80213	broad.mit.edu	37	15	102182710	102182710	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr15:102182710C>T	ENST00000333202.3	-	6	721	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TM2D3_ENST00000561373.1_Missense_Mutation_p.G174E|TM2D3_ENST00000347970.3_Missense_Mutation_p.G213E|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	239						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCTGCTGGTCCAACATAGCC	0.537																																						uc002bxi.3																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(715-717)gGa>gAa		Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1, mRNA.							124	125	125					15																	102182710		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102182710C>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.716G>A	15.37:g.102182710C>T	ENSP00000330433:p.Gly239Glu		Somatic				TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.3_Missense_Mutation_p.G174E|TM2D3_uc002bxj.3_Missense_Mutation_p.G213E	p.G239E	NM_078474	NP_510883	WXS	Illumina GAIIx	Phase_I	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	746	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		239					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.716G>A	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705135	0.89018	.	.	ENSG00000184277	ENST00000347970;ENST00000333202	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.988;0.992	T	0.80238	-0.1465	9	0.72032	D	0.01	-19.4518	16.8956	0.86099	0.0:1.0:0.0:0.0	.	213;239	Q9BRN9-2;Q9BRN9	.;TM2D3_HUMAN	E	213;239	.	ENSP00000330433:G239E	G	-	2	0	TM2D3	100000233	1.000000	0.71417	0.992000	0.48379	0.860000	0.49131	7.546000	0.82137	2.660000	0.90430	0.643000	0.83706	GGA		0.537	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		8	178	0	0	0	1	0	8	178					T	102182710	C	T	102182710	3	4	184	1	0	0	0	0	1	0	0	0	15962	855	30	2	31	2	TM2D3	15	102182710	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	27522791	102182710	348682	23	3244											
STX4	6810	broad.mit.edu	37	16	31050875	31050875	+	Missense_Mutation	SNP	A	A	G	rs562489469		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr16:31050875A>G	ENST00000313843.3	+	9	1031	c.716A>G	c.(715-717)aAt>aGt	p.N239S	STX4_ENST00000394998.1_Missense_Mutation_p.N237S|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	239	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GAGATGATCAATCGGATTGAG	0.567													A|||	1	0.000199681	8e-04	0	5008	,	,		20260	0		0	False		,,,				2504	0					uc002eal.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(715-717)aAt>aGt		Homo sapiens syntaxin 4 (STX4), mRNA.							115	105	108					16																	31050875		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31050875A>G	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"syntaxin 4A (placental)"	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.716A>G	16.37:g.31050875A>G	ENSP00000317714:p.Asn239Ser		Somatic				STX4_uc002eak.3_Missense_Mutation_p.N237S|STX4_uc002eam.3_Missense_Mutation_p.N161S|BC039500_uc002ean.1_5'Flank	p.N239S	NM_004604	NP_004595	WXS	Illumina GAIIx	Phase_I	Q12846	STX4_HUMAN			8	940	+			239			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.716A>G	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851002	0.71719	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.23348	1.91;1.91	6.08	6.08	0.98989	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.107189	0.64402	D	0.000004	T	0.32882	0.0844	M	0.69248	2.105	0.42692	D	0.993584	B;P	0.42456	0.334;0.78	B;B	0.40602	0.197;0.334	T	0.18178	-1.0345	10	0.87932	D	0	.	15.6264	0.76863	1.0:0.0:0.0:0.0	.	239;237	Q12846;A8MXY0	STX4_HUMAN;.	S	237;239	ENSP00000378447:N237S;ENSP00000317714:N239S	ENSP00000317714:N239S	N	+	2	0	STX4	30958376	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	8.526000	0.90588	2.333000	0.79357	0.533000	0.62120	AAT		0.567	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		7	145	0	0	0	1	0	7	145					G	31050875	A	G	31050875	3	3	184	1	0	0	0	0	1	0	0	0	15346	101	4	3	750	3	STX4	16	31050875	Missense_Mutation	SNP	A	TCGA-EL-A3GY-01A-21D-A202-08		31050875	59303878	24	3245											
MYO18A	399687	broad.mit.edu	37	17	27425124	27425124	+	Splice_Site	SNP	T	T	G			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:27425124T>G	ENST00000527372.1	-	25	4169	c.3989A>C	c.(3988-3990)cAg>cCg	p.Q1330P	MYO18A_ENST00000354329.4_Splice_Site_p.Q1330P|MYO18A_ENST00000531253.1_Splice_Site_p.Q1330P|MYO18A_ENST00000533112.1_Splice_Site_p.Q1330P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1330					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCCTCACCTGCAGTTCCTT	0.612																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.e25+1		Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.							113	125	121					17																	27425124		2159	4251	6410	SO:0001630	splice_region_variant	399687				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27425124T>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3990+1A>C	17.37:g.27425124T>G			Somatic				MYO18A_uc010wbc.1_Splice_Site_p.Q872_splice|MYO18A_uc002hds.2_Splice_Site_p.Q872_splice|MYO18A_uc010csa.1_Splice_Site_p.Q1330_splice|MYO18A_uc002hdu.1_Splice_Site_p.Q1330_splice|MYO18A_uc010wbd.1_Splice_Site_p.Q999_splice	p.Q1330_splice	NM_078471	NP_510880	WXS	Illumina GAIIx	Phase_I	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		25	4148	-			1330					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Splice_Site	SNP	ENST00000527372.1	37	c.3990_splice	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021704	0.75275	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.88818	-1.16;-2.43;-1.16;-1.16	5.36	5.36	0.76844	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	M	0.81802	2.56	0.51012	D	0.999902	P;P;P;P;D	0.53312	0.813;0.937;0.937;0.937;0.959	P;P;P;P;P	0.53006	0.715;0.626;0.504;0.504;0.681	D	0.93169	0.6564	10	0.56958	D	0.05	.	15.6464	0.77055	0.0:0.0:0.0:1.0	.	999;942;1330;1330;1330	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1330;1330;1330;1330;1330;226;226;942	ENSP00000346291:Q1330P;ENSP00000435932:Q1330P;ENSP00000434228:Q1330P;ENSP00000437073:Q1330P	ENSP00000346291:Q1330P	Q	-	2	0	MYO18A	24449250	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.511000	0.81718	2.157000	0.67596	0.533000	0.62120	CAG		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	Missense_Mutation	10	249	0	0	0	1	0	10	249					G	27425124	T	G	27425124	5	3	184	1	0	0	0	0	0	0	1	0	10065	1594	55	5	2247	5	MYO18A	17	27425124	Splice_Site	SNP	T	TCGA-EL-A3GY-01A-21D-A202-08		27425124	53770086	25	3246											
GPATCH8	23131	broad.mit.edu	37	17	42478100	42478100	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr17:42478100C>T	ENST00000591680.1	-	8	1375	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A371T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	449							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)		TGGCTTGCTGCCGCCTTGATG	0.502											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002igw.2																			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.(1345-1347)Gca>Aca		Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.							157	157	157					17																	42478100		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478100C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1345G>A	17.37:g.42478100C>T	ENSP00000467556:p.Ala449Thr		Somatic	OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_uc002igv.2_Missense_Mutation_p.A371T|GPATCH8_uc010wiz.2_Missense_Mutation_p.A371T	p.A449T	NM_001002909	NP_001002909	WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	7	1564	-		Prostate(33;0.0181)	449					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.1345G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863795	0.17250	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11385	2.78	5.02	-0.309	0.12769	.	0.702694	0.13772	N	0.363850	T	0.07188	0.0182	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.40728	T	0.16	0.001	8.3644	0.32378	0.0:0.486:0.0:0.514	.	449	Q9UKJ3	GPTC8_HUMAN	T	449;371	ENSP00000395016:A371T	ENSP00000335486:A449T	A	-	1	0	GPATCH8	39833626	0.016000	0.18221	0.188000	0.23233	0.813000	0.45954	0.398000	0.20899	-0.147000	0.11254	0.563000	0.77884	GCA		0.502	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		5	296	0	0	0	1	0	5	296					T	42478100	C	T	42478100	3	4	184	1	0	0	0	0	1	0	0	0	6594	739	26	2	3167	2	GPATCH8	17	42478100	Missense_Mutation	SNP	C	TCGA-EL-A3GY-01A-21D-A202-08	15052976	42478100	38717110	26	3247											
ZNRF4	148066	broad.mit.edu	37	19	5455622	5455622	+	Silent	SNP	G	G	A	rs370058448		TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:5455622G>A	ENST00000222033.4	+	1	197	c.120G>A	c.(118-120)agG>agA	p.R40R		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	40						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGGCCACAGGCCCCCTGGGA	0.657																																						uc002mca.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(118-120)agG>agA		Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.		G		0,4088		0,0,2044	36	42	40		120	-1.3	0.1	19		40	2,8354		0,2,4176	no	coding-synonymous	ZNRF4	NM_181710.3		0,2,6220	AA,AG,GG		0.0239,0.0,0.0161		40/430	5455622	2,12442	2044	4178	6222	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455622G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.120G>A	19.37:g.5455622G>A			Somatic					p.R40R	NM_181710	NP_859061	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	0	197	+			40					A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.120G>A	CCDS42475.1																																																																																				0.657	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		4	79	0	0	0	1	0	4	79					A	5455622	G	A	5455622	2	1	184	1	0	0	0	0	0	0	0	1	18211	1194	42	2		2	ZNRF4	19	5455622	Silent	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08		5455622	53673361	27	3248											
TRIP10	9322	broad.mit.edu	37	19	6741105	6741105	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GY-01A-21D-A202-08	TCGA-EL-A3GY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7977f37-60b9-4d9e-b928-0ac02f1a17e8	a35c71ab-41c7-4fe3-b279-71cbd8449992	g.chr19:6741105G>A	ENST00000313244.9	+	2	144	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TRIP10_ENST00000596758.1_Missense_Mutation_p.E37K|TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Missense_Mutation_p.E37K			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	37	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGAACGCACCGAAGTGGAACA	0.627																																						uc002mfs.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(109-111)Gaa>Aaa		Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.							75	66	69					19																	6741105		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6741105G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.109G>A	19.37:g.6741105G>A	ENSP00000320117:p.Glu37Lys		Somatic				TRIP10_uc010dux.2_Missense_Mutation_p.E37K|TRIP10_uc002mfr.3_Missense_Mutation_p.E37K|TRIP10_uc010duy.3_Non-coding_Transcript	p.E37K	NM_004240	NP_004231	WXS	Illumina GAIIx	Phase_I	Q15642	CIP4_HUMAN			1	175	+			37			FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.539337	0.85917	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.46063	0.88;2.28	4.11	4.11	0.48088	Fps/Fes/Fer/CIP4 homology (3);	0.063503	0.64402	D	0.000008	T	0.62865	0.2463	M	0.76574	2.34	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;0.998	D;D;P	0.72625	0.978;0.971;0.744	T	0.68138	-0.5488	10	0.66056	D	0.02	-24.7607	13.836	0.63410	0.0:0.0:1.0:0.0	.	37;37;37	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	K	37	ENSP00000320493:E37K;ENSP00000320117:E37K	ENSP00000320117:E37K	E	+	1	0	TRIP10	6692105	1.000000	0.71417	0.921000	0.36526	0.929000	0.56500	9.078000	0.94023	1.834000	0.53371	0.462000	0.41574	GAA		0.627	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			4	100	0	0	0	1	0	4	100					A	6741105	G	A	6741105	3	1	184	1	0	0	0	0	1	0	0	0	16551	1059	37	1	115	1	TRIP10	19	6741105	Missense_Mutation	SNP	G	TCGA-EL-A3GY-01A-21D-A202-08	1285483	6741105	52387878	28	3249											
LEFTY1	10637	broad.mit.edu	37	1	226075322	226075322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr1:226075322C>A	ENST00000272134.5	-	3	593	c.514G>T	c.(514-516)Gag>Tag	p.E172*	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280L	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	172					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CAGCCGCTCTCGTGGACGGAC	0.711																																						uc001hpo.3																			0		p.E172D(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(514-516)Gag>Tag		Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.							15	19	18					1																	226075322		2139	4174	6313	SO:0001587	stop_gained	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075322C>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.514G>T	1.37:g.226075322C>A	ENSP00000272134:p.Glu172*		Somatic				PYCR2_uc010pvj.2_Missense_Mutation_p.R280L|LEFTY1_uc009xej.2_3'UTR	p.E172*	NM_020997	NP_066277	WXS	Illumina GAIIx	Phase_I	O75610	LFTY1_HUMAN			2	594	-	Breast(184;0.197)		172					B2R7U0|Q53H67|Q5TE94	Nonsense_Mutation	SNP	ENST00000272134.5	37	c.514G>T	CCDS1548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.805047|4.805047	0.90623|0.90623	.|.	.|.	ENSG00000243709|ENSG00000255835	ENST00000272134|ENST00000432920	.|D	.|0.81821	.|-1.54	3.9|3.9	1.74|1.74	0.24563|0.24563	.|.	0.050310|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72145	.|0.3424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.25390	.|0.125	.|B	.|0.21546	.|0.035	.|T	.|0.74057	.|-0.3787	.|7	0.16420|0.87932	T|D	0.52|0	.|.	9.3242|9.3242	0.37982|0.37982	0.1628:0.6797:0.1575:0.0|0.1628:0.6797:0.1575:0.0	.|.	.|280	.|E7EUD8	.|.	X|L	172|280	.|ENSP00000414068:R280L	ENSP00000272134:E172X|ENSP00000414068:R280L	E|R	-|-	1|2	0|0	LEFTY1|RP4-559A3.7	224141945|224141945	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.762000|0.762000	0.43233|0.43233	3.131000|3.131000	0.50515|0.50515	0.733000|0.733000	0.32492|0.32492	0.313000|0.313000	0.20887|0.20887	GAG|CGA		0.711	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		3	63	0	0	0	1	0	3	63					A	226075322	C	A	226075322	4	1	185	1	0	0	0	0	0	1	0	0	8715	893	31	4	594	4	LEFTY1	1	226075322	Nonsense_Mutation	SNP	C	TCGA-EL-A3GZ-01A-11D-A20C-08		226075322	23175299	1	3250											
SLC8A1	6546	broad.mit.edu	37	2	40656897	40656897	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:40656897G>A	ENST00000403092.1	-	2	557	c.524C>T	c.(523-525)gCt>gTt	p.A175V	SLC8A1_ENST00000408028.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A175V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A175V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A175V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	175					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTGAATGCAGCACTTCCCAC	0.463																																						uc002rrx.3																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(523-525)gCt>gTt		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						101	90	94					2																	40656897		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656897G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.524C>T	2.37:g.40656897G>A	ENSP00000384763:p.Ala175Val		Somatic				SLC8A1_uc002rry.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsb.2_Missense_Mutation_p.A175V|SLC8A1_uc002rrz.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsa.3_Missense_Mutation_p.A175V|SLC8A1_uc002rsd.4_Missense_Mutation_p.A175V|SLC8A1_uc010fan.1_Missense_Mutation_p.A175V|SLC8A1_uc002rsc.1_Missense_Mutation_p.A175V	p.A175V	NM_021097	NP_066920	WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			0	548	-			175					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.524C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200976	0.79015	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	H	0.96633	3.855	0.80722	D	1	D;D;D;P;P	0.89917	1.0;0.998;1.0;0.924;0.938	D;D;D;P;P	0.97110	1.0;0.995;1.0;0.9;0.866	D	0.90523	0.4490	10	0.72032	D	0.01	.	17.1057	0.86662	0.0:0.0:1.0:0.0	.	175;175;175;175;175	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	V	175	ENSP00000383886:A175V;ENSP00000440727:A175V;ENSP00000384763:A175V;ENSP00000385678:A175V;ENSP00000385188:A175V;ENSP00000385535:A175V;ENSP00000332931:A175V;ENSP00000384908:A175V;ENSP00000385811:A175V;ENSP00000443515:A175V	ENSP00000332931:A175V	A	-	2	0	SLC8A1	40510401	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.669000	0.98622	2.648000	0.89879	0.563000	0.77884	GCT		0.463	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		3	77	0	0	0	1	0	3	77					A	40656897	G	A	40656897	3	1	185	1	0	0	0	0	1	0	0	0	14706	971	34	2	2545	2	SLC8A1	2	40656897	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		40656897	202542476	2	3251											
MSH2	4436	broad.mit.edu	37	2	47656952	47656952	+	Missense_Mutation	SNP	G	G	T	rs376934727		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr2:47656952G>T	ENST00000233146.2	+	7	1371	c.1148G>T	c.(1147-1149)cGa>cTa	p.R383L	MSH2_ENST00000543555.1_Missense_Mutation_p.R317L|MSH2_ENST00000406134.1_Missense_Mutation_p.R383L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	383					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTCGTCGATTCCCAGAT	0.343			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rvz.3			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"D, Mis, N, F, S"	mutS homolog 2 (E. coli)			E		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)|p.R383*(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1147-1149)cGa>cTa	Mismatch excision repair (MMR)	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.							89	86	87					2																	47656952		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	g.chr2:47656952G>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1148G>T	2.37:g.47656952G>T	ENSP00000233146:p.Arg383Leu		Somatic				MSH2_uc010yoh.1_Missense_Mutation_p.R317L|MSH2_uc002rvy.1_Missense_Mutation_p.R383L|MSH2_uc010fbg.2_Missense_Mutation_p.R193L	p.R383L	NM_000251	NP_000242	WXS	Illumina GAIIx	Phase_I	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	1216	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	383					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1148G>T	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.39|16.39	3.109520|3.109520	0.56398|0.56398	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000448533|ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880	.|D;D;D	.|0.90900	.|-2.75;-2.75;-2.75	5.69|5.69	5.69|5.69	0.88448|0.88448	.|DNA mismatch repair protein MutS, core (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93311|0.93311	0.7868|0.7868	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43607	.|0.629;0.812;0.526	.|B;B;P	.|0.48454	.|0.349;0.188;0.578	D|D	0.92618|0.92618	0.6105|0.6105	6|10	0.72032|0.44086	D|T	0.01|0.13	-0.1317|-0.1317	19.802|19.802	0.96511|0.96511	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;383;383	.|B4E2Z2;E9PHA6;P43246	.|.;.;MSH2_HUMAN	Y|L	383|383;317;383;383;383;383;33;169	.|ENSP00000233146:R383L;ENSP00000442697:R317L;ENSP00000384199:R383L	ENSP00000415023:D383Y|ENSP00000233146:R383L	D|R	+|+	1|2	0|0	MSH2|MSH2	47510456|47510456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.923000|8.923000	0.92808|0.92808	2.687000|2.687000	0.91594|0.91594	0.651000|0.651000	0.88453|0.88453	GAT|CGA		0.343	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			37	74	0	0	0	1	0	37	74					T	47656952	G	T	47656952	3	4	185	1	0	0	0	0	1	0	0	0	9870	1058	37	4	1174	4	MSH2	2	47656952	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08	7000055	47656952	195542421	3	3252											
NRG2	9542	broad.mit.edu	37	5	139260543	139260543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr5:139260543G>A	ENST00000361474.1	-	3	1113	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	NRG2_ENST00000289409.4_Nonsense_Mutation_p.Q297*|NRG2_ENST00000358522.3_Nonsense_Mutation_p.Q297*|NRG2_ENST00000541337.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000394770.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000289422.7_Nonsense_Mutation_p.Q297*|NRG2_ENST00000340391.3_Nonsense_Mutation_p.Q94*|NRG2_ENST00000545385.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000518130.1_5'UTR	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	297	Ig-like C2-type.				embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTGAACTGTAGTCGTGAG	0.612																																						uc003lev.2																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(889-891)Cag>Tag		Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.							111	106	108					5																	139260543		2203	4300	6503	SO:0001587	stop_gained	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139260543G>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.889C>T	5.37:g.139260543G>A	ENSP00000354910:p.Gln297*		Somatic				NRG2_uc003lew.2_Nonsense_Mutation_p.Q297*|NRG2_uc003lex.2_Nonsense_Mutation_p.Q297*|NRG2_uc003ley.2_Nonsense_Mutation_p.Q297*|NRG2_uc021yed.1_Nonsense_Mutation_p.Q297*	p.Q297*	NM_013982	NP_053585	WXS	Illumina GAIIx	Phase_I	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1119	-			297			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000361474.1	37	c.889C>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	39	7.539569	0.98345	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-12.1047	17.0103	0.86404	0.0:0.0:1.0:0.0	.	.	.	.	X	297;297;297;297;297;297;94;297;297;205;297	.	ENSP00000289409:Q297X	Q	-	1	0	NRG2	139240727	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.674000	0.83992	2.455000	0.83008	0.561000	0.74099	CAG		0.612	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		5	104	0	0	0	1	0	5	104					A	139260543	G	A	139260543	4	1	185	1	0	0	0	0	0	1	0	0	10648	1386	48	2	1786	2	NRG2	5	139260543	Nonsense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		139260543	41654717	4	3253											
HIST1H2BC	8347	broad.mit.edu	37	6	26124113	26124113	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr6:26124113G>C	ENST00000314332.5	-	1	25	c.20C>G	c.(19-21)tCt>tGt	p.S7C	HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S7C			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	7					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GGCGGGAGCAGACTTGGCTGG	0.507																																						uc003ngk.4																			0		p.K6N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						c.(19-21)tCt>tGt		Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA.							88	87	87					6																	26124113		2203	4300	6503	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26124113G>C	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.20C>G	6.37:g.26124113G>C	ENSP00000321744:p.Ser7Cys		Somatic				HIST1H2BC_uc003ngl.3_Missense_Mutation_p.S7C|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank	p.S7C	NM_003526	NP_003517	WXS	Illumina GAIIx	Phase_I	P62807	H2B1C_HUMAN			0	42	-			7					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.20C>G	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	18.92	3.726581	0.69074	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.18960	2.18;2.18	5.76	5.76	0.90799	Histone-fold (2);	.	.	.	.	T	0.13114	0.0318	.	.	.	0.40397	D	0.979609	B	0.25904	0.137	B	0.12156	0.007	T	0.01951	-1.1241	8	0.87932	D	0	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	7	P62807	H2B1C_HUMAN	C	7	ENSP00000321744:S7C;ENSP00000380180:S7C	ENSP00000321744:S7C	S	-	2	0	HIST1H2BC	26232092	1.000000	0.71417	0.961000	0.40146	0.857000	0.48899	6.186000	0.72026	2.879000	0.98667	0.650000	0.86243	TCT		0.507	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		54	77	0	0	0	1	0	54	77					C	26124113	G	C	26124113	3	2	185	1	0	0	0	0	1	0	0	0	7142	942	33	4	364	4	HIST1H2BC	6	26124113	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		26124113	144990954	5	3254											
PODXL	5420	broad.mit.edu	37	7	131195717	131195717	+	Silent	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:131195717G>A	ENST00000378555.3	-	2	823	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PODXL_ENST00000537928.1_Silent_p.P192P|PODXL_ENST00000322985.9_Silent_p.P192P|PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Silent_p.P194P			O00592	PODXL_HUMAN	podocalyxin-like	192	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCGTCGAAGTGGGTTGTCGGG	0.542																																						uc003vqw.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(574-576)ccC>ccT		Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.							219	190	200					7																	131195717		2203	4300	6503	SO:0001819	synonymous_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195717G>A		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.576C>T	7.37:g.131195717G>A			Somatic				PODXL_uc003vqx.4_Silent_p.P192P	p.P192P	NM_001018111	NP_001018121	WXS	Illumina GAIIx	Phase_I	O00592	PODXL_HUMAN			1	834	-	Melanoma(18;0.162)		192			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	c.576C>T	CCDS34755.1																																																																																				0.542	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		37	77	0	0	0	1	0	37	77					A	131195717	G	A	131195717	2	1	185	1	0	0	0	0	0	0	0	1	12180	1335	47	2		2	PODXL	7	131195717	Silent	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		131195717	27942946	6	3255											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	70	0	0	0	1	0	37	70					T	140453136	A	T	140453136	3	4	185	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3GZ-01A-11D-A20C-08	9257419	140453136	18685527	7	3256											
ACBD5	91452	broad.mit.edu	37	10	27529319	27529319	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr10:27529319G>A	ENST00000375888.1	-	1	168	c.104C>T	c.(103-105)gCg>gTg	p.A35V	ACBD5_ENST00000396271.3_Missense_Mutation_p.A37V|ACBD5_ENST00000476758.1_5'UTR|RP11-85G18.6_ENST00000574842.1_lincRNA|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.A2V			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	35					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTCGTGTCCGCCATCTCCAG	0.612																																						uc010qdp.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(109-111)gCg>gTg		Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 1, mRNA.							81	71	75					10																	27529319		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27529319G>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.104C>T	10.37:g.27529319G>A	ENSP00000365049:p.Ala35Val		Somatic				ACBD5_uc010qdm.2_Missense_Mutation_p.A35V|ACBD5_uc010qdn.2_5'UTR|ACBD5_uc010qdo.2_5'UTR|ACBD5_uc001ito.3_Missense_Mutation_p.A2V|ACBD5_uc001itp.3_5'UTR|ACBD5_uc001itq.3_5'UTR|ACBD5_uc001itr.1_5'UTR	p.A37V	NM_145698	NP_001035938	WXS	Illumina GAIIx	Phase_I	Q5T8D3	ACBD5_HUMAN			1	301	-			35					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.110C>T		.	.	.	.	.	.	.	.	.	.	G	29.7	5.027375	0.93518	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.32753	2.29;1.78;2.29;1.98;1.44	4.87	4.87	0.63330	.	0.104266	0.64402	D	0.000003	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.58331	0.837;0.787	T	0.28170	-1.0052	10	0.51188	T	0.08	-4.7614	18.3808	0.90451	0.0:0.0:1.0:0.0	.	37;35	Q5T8D3-3;B7Z2R7	.;.	V	32;37;2;35;44;2	ENSP00000379568:A37V;ENSP00000365070:A2V;ENSP00000365049:A35V;ENSP00000401591:A44V;ENSP00000393398:A2V	ENSP00000365049:A35V	A	-	2	0	ACBD5	27569325	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	3.955000	0.56715	2.402000	0.81655	0.467000	0.42956	GCG		0.612	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		4	120	0	0	0	1	0	4	120					A	27529319	G	A	27529319	3	1	185	1	0	0	0	0	1	0	0	0	125	1087	38	1	1515	1	ACBD5	10	27529319	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		27529319	108005428	8	3257											
HTR3A	3359	broad.mit.edu	37	11	113860392	113860392	+	Silent	SNP	G	G	T			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr11:113860392G>T	ENST00000504030.2	+	9	1789	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	HTR3A_ENST00000535865.1_Silent_p.V192V|HTR3A_ENST00000299961.5_Silent_p.V433V|HTR3A_ENST00000506841.2_Silent_p.V480V|HTR3A_ENST00000355556.2_Silent_p.V486V|HTR3A_ENST00000375498.2_Silent_p.V454V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGGGCTCCGTGCTGGACAAGC	0.592																																						uc010rxb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1456-1458)gtG>gtT		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						82	74	77					11																	113860392		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860392G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1344G>T	11.37:g.113860392G>T			Somatic				HTR3A_uc010rxa.2_Silent_p.V454V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.V433V	p.V486V	NM_213621	NP_998786	WXS	Illumina GAIIx	Phase_I	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1691	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	448					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1458G>T																																																																																					0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		56	120	0	0	0	1	0	56	120					T	113860392	G	T	113860392	2	4	185	1	0	0	0	0	0	0	0	1	7444	1306	46	4		4	HTR3A	11	113860392	Silent	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		113860392	21146124	9	3258											
PPP4C	5531	broad.mit.edu	37	16	30095000	30095000	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr16:30095000T>C	ENST00000279387.7	+	7	670	c.502T>C	c.(502-504)Tcc>Ccc	p.S168P	PPP4C_ENST00000561610.1_Missense_Mutation_p.S168P	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	168					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CGGGGGCCTCTCCCCCTCCAT	0.622																																						uc002dwe.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(502-504)Tcc>Ccc		Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.							73	70	71					16																	30095000		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr16:30095000T>C		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.502T>C	16.37:g.30095000T>C	ENSP00000279387:p.Ser168Pro		Somatic				BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.S168P	p.S168P	NM_002720	NP_002711	WXS	Illumina GAIIx	Phase_I	P60510	PP4C_HUMAN			6	637	+			168					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.502T>C	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504440	0.85176	.	.	ENSG00000149923	ENST00000279387	T	0.27720	1.65	5.9	5.9	0.94986	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80605	-0.1308	10	0.72032	D	0.01	-6.6671	15.3117	0.74039	0.0:0.0:0.0:1.0	.	168	P60510	PP4C_HUMAN	P	168	ENSP00000279387:S168P	ENSP00000279387:S168P	S	+	1	0	PPP4C	30002501	1.000000	0.71417	0.990000	0.47175	0.655000	0.38815	5.057000	0.64294	2.257000	0.74773	0.528000	0.53228	TCC		0.622	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		3	135	0	0	0	1	0	3	135					C	30095000	T	C	30095000	3	2	185	1	0	0	0	0	1	0	0	0	12402	1551	54	3	524	3	PPP4C	16	30095000	Missense_Mutation	SNP	T	TCGA-EL-A3GZ-01A-11D-A20C-08		30095000	60259753	10	3259											
ELFN2	114794	broad.mit.edu	37	22	37771091	37771091	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chr22:37771091G>T	ENST00000402918.2	-	3	1269	c.484C>A	c.(484-486)Cgc>Agc	p.R162S	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	162					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGGCTGAGGCGGTTGGAGGAC	0.637																																						uc003asq.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(484-486)Cgc>Agc		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.							60	59	59					22																	37771091		2203	4298	6501	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37771091G>T	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.484C>A	22.37:g.37771091G>T	ENSP00000385277:p.Arg162Ser		Somatic				ELFN2_uc021wph.1_Missense_Mutation_p.R162S	p.R162S	NM_052906	NP_443138	WXS	Illumina GAIIx	Phase_I	Q5R3F8	LRFN6_HUMAN			2	1270	-	Melanoma(58;0.0574)		162					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.484C>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040640	0.55003	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.51574	0.7;0.7	4.52	4.52	0.55395	.	0.056499	0.64402	D	0.000003	T	0.58221	0.2107	L	0.53729	1.69	0.47994	D	0.999564	D	0.57257	0.979	P	0.58820	0.846	T	0.61559	-0.7038	10	0.66056	D	0.02	-27.1007	12.6929	0.56985	0.0:0.0:0.835:0.165	.	162	Q5R3F8	PPR29_HUMAN	S	162	ENSP00000300147:R162S;ENSP00000385277:R162S	ENSP00000300147:R162S	R	-	1	0	ELFN2	36101037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.693000	0.61753	2.233000	0.73108	0.514000	0.50259	CGC		0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		65	105	0	0	0	1	0	65	105					T	37771091	G	T	37771091	3	4	185	1	0	0	0	0	1	0	0	0	5058	1116	39	4	1982	4	ELFN2	22	37771091	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		37771091	13533475	11	3260											
ESX1	80712	broad.mit.edu	37	X	103495055	103495055	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GZ-01A-11D-A20C-08	TCGA-EL-A3GZ-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38	d3d86da9-9e54-4eb7-b1f3-93180c9af636	g.chrX:103495055G>A	ENST00000372588.4	-	4	1158	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	359	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGCGGCCCGGGTGGCAGAGGC	0.756																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.3																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(1075-1077)Ccc>Tcc		Homo sapiens ESX homeobox 1 (ESX1), mRNA.							5	6	6					X																	103495055		1382	2875	4257	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495055G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1075C>T	X.37:g.103495055G>A	ENSP00000361669:p.Pro359Ser		Somatic					p.P359S	NM_153448	NP_703149	WXS	Illumina GAIIx	Phase_I	Q8N693	ESX1_HUMAN			3	1144	-			359			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.1075C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412113	0.25465	.	.	ENSG00000123576	ENST00000372588	T	0.76448	-1.02	2.3	2.3	0.28687	.	.	.	.	.	T	0.82208	0.4987	L	0.61218	1.895	0.09310	N	1	D	0.59357	0.985	P	0.57776	0.827	T	0.70916	-0.4742	9	0.87932	D	0	.	9.8512	0.41057	0.0:0.0:1.0:0.0	.	359	Q8N693	ESX1_HUMAN	S	359	ENSP00000361669:P359S	ENSP00000361669:P359S	P	-	1	0	ESX1	103381711	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	0.488000	0.22371	1.191000	0.43056	0.190000	0.17370	CCC		0.756	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		5	9	0	0	0	1	0	5	9					A	103495055	G	A	103495055	3	1	185	1	0	0	0	0	1	0	0	0	5263	1261	44	2	149	2	ESX1	23	103495055	Missense_Mutation	SNP	G	TCGA-EL-A3GZ-01A-11D-A20C-08		103495055	51775505	12	3261											
GBP5	115362	broad.mit.edu	37	1	89732216	89732216	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:89732216G>C	ENST00000370459.3	-	6	808	c.681C>G	c.(679-681)ttC>ttG	p.F227L	GBP5_ENST00000343435.5_Missense_Mutation_p.F227L|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	227	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTTTTGGAAAGAACTTCTGTA	0.368																																						uc001dnc.3																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(679-681)ttC>ttG		Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.							124	127	126					1																	89732216		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732216G>C	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.681C>G	1.37:g.89732216G>C	ENSP00000359488:p.Phe227Leu		Somatic				GBP5_uc001dnd.3_Missense_Mutation_p.F227L|GBP5_uc001dne.1_Missense_Mutation_p.F227L	p.F227L	NM_052942	NP_443174	WXS	Illumina GAIIx	Phase_I	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	6	1218	-			227					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.681C>G	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642706	0.47153	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.76186	-1.0;-1.0;-1.0	5.01	2.87	0.33458	Guanylate-binding protein, N-terminal (1);	0.181111	0.48767	D	0.000177	T	0.63307	0.2500	M	0.66506	2.035	0.32851	D	0.506651	P	0.41102	0.738	P	0.45913	0.497	T	0.64084	-0.6490	10	0.66056	D	0.02	-11.7355	8.0779	0.30726	0.2301:0.0:0.7699:0.0	.	227	Q96PP8	GBP5_HUMAN	L	227	ENSP00000340396:F227L;ENSP00000359488:F227L;ENSP00000403010:F227L	ENSP00000340396:F227L	F	-	3	2	GBP5	89504804	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	3.729000	0.54999	0.645000	0.30675	0.549000	0.68633	TTC		0.368	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		15	16	0	0	0	1	0	15	16					C	89732216	G	C	89732216	3	2	186	1	0	0	0	0	1	0	0	0	6277	933	33	4	1103	4	GBP5	1	89732216	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		89732216	159518405	1	3262											
GJA8	2703	broad.mit.edu	37	1	147381186	147381186	+	Frame_Shift_Del	DEL	G	G	-	rs145146702	byFrequency	TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr1:147381186delG	ENST00000369235.1	+	1	1104	c.1104delG	c.(1102-1104)gagfs	p.E368fs	GJA8_ENST00000240986.4_Frame_Shift_Del_p.E368fs			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	368					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.E368D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGTGCCAGAGGGGGAGAAAG	0.612																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.2																			1	Substitution - Missense(1)	p.E368D(2)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(1102-1104)gagfs		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							45	47	47					1																	147381186		2200	4298	6498	SO:0001589	frameshift_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381186delG	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1104delG	1.37:g.147381186delG	ENSP00000358238:p.Glu368fs		Somatic				GJA8_uc021ovm.1_Frame_Shift_Del_p.E368fs	p.E368fs	NM_005267	NP_005258	WXS	Illumina GAIIx	Phase_I	P48165	CXA8_HUMAN			1	1157	+	all_hematologic(923;0.0276)		368					A7L5M5|Q5VVN9|Q9NP25	Frame_Shift_Del	DEL	ENST00000369235.1	37	c.1104delG	CCDS30834.1																																																																																				0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		2	4						2	4	---	---	---	---	-	147381186	G	-	147381186	7	5	186	1	0	1	0	1	0	0	0	0	6405	991	35	0	1106	0	GJA8	1	147381186	Frame_Shift_Del	DEL	G	TCGA-EL-A3H1-01A-11D-A21A-08	57648970	147381186	101869435	2	3263											
ABCG5	64240	broad.mit.edu	37	2	44055183	44055183	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:44055183C>T	ENST00000260645.1	-	5	712	c.573G>A	c.(571-573)ggG>ggA	p.G191G	ABCG5_ENST00000405322.1_Silent_p.G110G|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	191	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGAAATGCCCCCCAAGCTGT	0.592																																						uc002rtn.3																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(571-573)ggG>ggA		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.							58	53	55					2																	44055183		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055183C>T	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.573G>A	2.37:g.44055183C>T			Somatic				ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Silent_p.G110G|ABCG5_uc002rtp.3_5'UTR	p.G191G	NM_022436	NP_071881	WXS	Illumina GAIIx	Phase_I	Q9H222	ABCG5_HUMAN			4	713	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	191			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.573G>A	CCDS1814.1																																																																																				0.592	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		10	54	0	0	0	1	0	10	54					T	44055183	C	T	44055183	2	4	186	1	0	0	0	0	0	0	0	1	71	610	22	2		2	ABCG5	2	44055183	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		44055183	199144190	3	3264											
SLC9A2	6549	broad.mit.edu	37	2	103324773	103324773	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:103324773A>G	ENST00000233969.2	+	12	2406	c.2264A>G	c.(2263-2265)aAg>aGg	p.K755R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	755					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGCAGAGAAAAGGGCACCCAG	0.532																																						uc002tca.3																			0		p.E754K(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2263-2265)aAg>aGg		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.							138	148	144					2																	103324773		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324773A>G		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2264A>G	2.37:g.103324773A>G	ENSP00000233969:p.Lys755Arg		Somatic					p.K755R	NM_003048	NP_003039	WXS	Illumina GAIIx	Phase_I	Q9UBY0	SL9A2_HUMAN			11	2406	+			755					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2264A>G	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	A	2.696	-0.272046	0.05716	.	.	ENSG00000115616	ENST00000233969	T	0.54866	0.55	5.24	2.23	0.28157	.	1.812460	0.02136	N	0.056732	T	0.33876	0.0878	N	0.14661	0.345	0.19575	N	0.999964	B	0.14012	0.009	B	0.15484	0.013	T	0.18999	-1.0319	10	0.16420	T	0.52	.	3.747	0.08552	0.207:0.0:0.5877:0.2053	.	755	Q9UBY0	SL9A2_HUMAN	R	755	ENSP00000233969:K755R	ENSP00000233969:K755R	K	+	2	0	SLC9A2	102691205	0.487000	0.25988	0.957000	0.39632	0.049000	0.14656	0.847000	0.27696	0.769000	0.33313	-0.248000	0.11899	AAG		0.532	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			3	107	0	0	0	1	0	3	107					G	103324773	A	G	103324773	3	3	186	1	0	0	0	0	1	0	0	0	14712	72	3	3	2310	3	SLC9A2	2	103324773	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	59269590	103324773	139874600	4	3265											
SCN3A	6328	broad.mit.edu	37	2	165947659	165947659	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:165947659G>C	ENST00000360093.3	-	28	5495	c.5004C>G	c.(5002-5004)atC>atG	p.I1668M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1619M|SCN3A_ENST00000540861.1_Missense_Mutation_p.I151M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1668M|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1668					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATGGCATAGATAAACATGA	0.458																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(5002-5004)atC>atG		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						154	149	150					2																	165947659		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947659G>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5004C>G	2.37:g.165947659G>C	ENSP00000353206:p.Ile1668Met		Somatic				SCN3A_uc010zcy.2_Missense_Mutation_p.I151M|SCN3A_uc002ucy.3_Missense_Mutation_p.I1619M|SCN3A_uc002ucz.3_Missense_Mutation_p.I1619M	p.I1668M	NM_006922	NP_008853	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			27	5496	-			1668					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.5004C>G		.	.	.	.	.	.	.	.	.	.	G	15.65	2.896875	0.52121	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.99032	-5.35;-5.35;-5.35;-5.35	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000006	D	0.99223	0.9730	M	0.83312	2.635	0.58432	D	0.999991	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.87578	0.994;0.998;0.965	D	0.98965	1.0799	10	0.87932	D	0	.	13.4305	0.61053	0.0713:0.0:0.9287:0.0	.	1619;1619;1668	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	M	1668;1668;1619;151	ENSP00000353206:I1668M;ENSP00000283254:I1668M;ENSP00000386726:I1619M;ENSP00000439920:I151M	ENSP00000283254:I1668M	I	-	3	3	SCN3A	165655905	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.664000	0.74437	2.784000	0.95788	0.580000	0.79431	ATC		0.458	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		31	39	0	0	0	1	0	31	39					C	165947659	G	C	165947659	3	2	186	1	0	0	0	0	1	0	0	0	13918	932	33	4	1002	4	SCN3A	2	165947659	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	62622886	165947659	77251714	5	3266											
ANKMY1	51281	broad.mit.edu	37	2	241447070	241447070	+	Missense_Mutation	SNP	G	G	T	rs200515527		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr2:241447070G>T	ENST00000272972.3	-	12	2380	c.2166C>A	c.(2164-2166)aaC>aaA	p.N722K	ANKMY1_ENST00000406958.1_Missense_Mutation_p.N483K|ANKMY1_ENST00000361678.4_Missense_Mutation_p.N498K|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Missense_Mutation_p.N624K|ANKMY1_ENST00000391987.1_Missense_Mutation_p.N722K|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N811K|ANKMY1_ENST00000373320.4_Missense_Mutation_p.N492K	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	722							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCAGGGGCAGGTTGGGGTCAG	0.592																																						uc010fzd.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(2431-2433)aaC>aaA		Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.							82	76	78					2																	241447070		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241447070G>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2166C>A	2.37:g.241447070G>T	ENSP00000272972:p.Asn722Lys		Somatic				ANKMY1_uc002vzb.1_Missense_Mutation_p.N483K|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N722K|ANKMY1_uc002vza.1_Missense_Mutation_p.N498K|ANKMY1_uc002vzd.1_Missense_Mutation_p.N545K	p.N811K	NM_016552	NP_057636	WXS	Illumina GAIIx	Phase_I	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	12	2558	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	722					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.2433C>A	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.490|9.490	1.100556|1.100556	0.20552|0.20552	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804|ENST00000391988	T;T;T;T;T;T;T|.	0.77098|.	-0.94;-0.84;-0.66;-0.84;-0.57;-1.07;-0.74|.	2.16|2.16	0.232|0.232	0.15381|0.15381	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.61800|0.61800	0.2376|0.2376	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.998;0.999|.	D;D;D;D;D|.	0.79784|.	0.96;0.935;0.993;0.938;0.96|.	T|T	0.57423|0.57423	-0.7814|-0.7814	10|5	0.72032|.	D|.	0.01|.	-35.7979|-35.7979	4.4328|4.4328	0.11536|0.11536	0.3609:0.0:0.6391:0.0|0.3609:0.0:0.6391:0.0	.|.	722;492;483;498;722|.	Q4ZFV3;Q9P2S6-4;B5MBY4;Q9P2S6-2;Q9P2S6|.	.;.;.;.;ANKY1_HUMAN|.	K|T	483;722;498;722;492;624;811|152	ENSP00000384555:N483K;ENSP00000272972:N722K;ENSP00000355097:N498K;ENSP00000375847:N722K;ENSP00000362417:N492K;ENSP00000383968:N624K;ENSP00000385887:N811K|.	ENSP00000272972:N722K|.	N|P	-|-	3|1	2|0	ANKMY1|ANKMY1	241095743|241095743	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.085000|0.085000	0.17905|0.17905	1.340000|1.340000	0.33896|0.33896	0.044000|0.044000	0.15775|0.15775	0.282000|0.282000	0.19409|0.19409	AAC|CCT		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		20	20	0	0	0	1	0	20	20					T	241447070	G	T	241447070	3	4	186	1	0	0	0	0	1	0	0	0	634	1252	44	4	683	4	ANKMY1	2	241447070	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	75499411	241447070	1752303	6	3267											
LMOD3	56203	broad.mit.edu	37	3	69171306	69171306	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr3:69171306C>T	ENST00000420581.2	-	1	411	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	LMOD3_ENST00000475434.1_Missense_Mutation_p.E78K|LMOD3_ENST00000489031.1_Missense_Mutation_p.E78K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	78						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)		GATGCCTTTTCCCAATACATA	0.463																																						uc003dns.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(232-234)Gaa>Aaa		Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.							76	72	73					3																	69171306		1872	4108	5980	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69171306C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.232G>A	3.37:g.69171306C>T	ENSP00000414670:p.Glu78Lys		Somatic				LMOD3_uc003dnt.2_Missense_Mutation_p.E78K	p.E78K	NM_198271	NP_938012	WXS	Illumina GAIIx	Phase_I	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)	0	441	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	78					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.232G>A	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737060	0.69304	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.26223	1.75;1.75;1.75	5.69	4.82	0.62117	.	0.104769	0.64402	D	0.000005	T	0.28863	0.0716	L	0.49126	1.545	0.52501	D	0.999956	P	0.40000	0.698	B	0.41946	0.371	T	0.02539	-1.1144	10	0.35671	T	0.21	-17.6549	14.8288	0.70132	0.0:0.3102:0.6898:0.0	.	78	Q0VAK6	LMOD3_HUMAN	K	78	ENSP00000414670:E78K;ENSP00000417210:E78K;ENSP00000418645:E78K	ENSP00000414670:E78K	E	-	1	0	LMOD3	69253996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.973000	0.56845	1.419000	0.47118	0.591000	0.81541	GAA		0.463	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		3	2	0	0	0	1	0	3	2					T	69171306	C	T	69171306	3	4	186	1	0	0	0	0	1	0	0	0	8858	864	30	2	1462	2	LMOD3	3	69171306	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		69171306	128851124	7	3268											
MUC7	4589	broad.mit.edu	37	4	71346615	71346615	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr4:71346615C>T	ENST00000304887.5	+	3	344	c.154C>T	c.(154-156)Cta>Tta	p.L52L	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.L52L|MUC7_ENST00000413702.1_Silent_p.L52L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	52					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCTGGACTGCTAGCTCACCA	0.458																																						uc011cat.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(154-156)Cta>Tta		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							174	172	173					4																	71346615		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346615C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.154C>T	4.37:g.71346615C>T			Somatic				MUC7_uc011cau.2_Silent_p.L52L|MUC7_uc003hfj.3_Silent_p.L52L	p.L52L	NM_001145006	NP_689504	WXS	Illumina GAIIx	Phase_I	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	442	+			52					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.154C>T	CCDS3541.1																																																																																				0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	98	0	0	0	1	0	4	98					T	71346615	C	T	71346615	2	4	186	1	0	0	0	0	0	0	0	1	9981	796	28	2		2	MUC7	4	71346615	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		71346615	119807661	8	3269											
GPR98	84059	broad.mit.edu	37	5	90087090	90087090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:90087090delA	ENST00000405460.2	+	70	14540	c.14444delA	c.(14443-14445)gaafs	p.E4815fs	GPR98_ENST00000425867.2_Frame_Shift_Del_p.E476fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4815					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTTACCGAAAATGCAGAG	0.448																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14443-14445)gaafs		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							28	28	28					5																	90087090		2070	4202	6272	SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:90087090delA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14444delA	5.37:g.90087090delA	ENSP00000384582:p.Glu4815fs		Somatic				GPR98_uc003kjt.3_Frame_Shift_Del_p.E2521fs|GPR98_uc003kjw.3_Frame_Shift_Del_p.E476fs	p.E4815fs	NM_032119	NP_115495	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	69	14540	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4815					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	ENST00000405460.2	37	c.14444delA	CCDS47246.1																																																																																				0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		2	4						2	4	---	---	---	---	-	90087090	A	-	90087090	7	5	186	1	0	1	0	1	0	0	0	0	6721	246	9	0	14722	0	GPR98	5	90087090	Frame_Shift_Del	DEL	A	TCGA-EL-A3H1-01A-11D-A21A-08		90087090	90828170	9	3270											
GPR151	134391	broad.mit.edu	37	5	145895223	145895223	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr5:145895223A>C	ENST00000311104.2	-	1	530	c.454T>G	c.(454-456)Tac>Gac	p.Y152D		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATGGTGTAGTTGTGGATA	0.527																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14						c.(454-456)Tac>Gac		Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.							152	129	137					5																	145895223		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895223A>C	AY255557	CCDS34266.1	5q32	2012-08-21						"GPCR / Class A : Orphans"	23624	protein-coding gene	gene with protein product	"galanin receptor 4"					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.454T>G	5.37:g.145895223A>C	ENSP00000308733:p.Tyr152Asp		Somatic					p.Y152D	NM_194251	NP_919227	WXS	Illumina GAIIx	Phase_I	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	454	-			152					Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.454T>G	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	1.158	-0.644586	0.03531	.	.	ENSG00000173250	ENST00000311104	T	0.37058	1.22	5.67	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	0.534643	0.21528	N	0.073082	T	0.15305	0.0369	N	0.08118	0	0.09310	N	0.999994	B	0.10296	0.003	B	0.04013	0.001	T	0.15321	-1.0441	10	0.37606	T	0.19	.	7.7218	0.28736	0.3544:0.1457:0.4999:0.0	.	152	Q8TDV0	GP151_HUMAN	D	152	ENSP00000308733:Y152D	ENSP00000308733:Y152D	Y	-	1	0	GPR151	145875416	0.056000	0.20664	0.157000	0.22605	0.144000	0.21451	0.252000	0.18278	-0.139000	0.11414	-0.290000	0.09829	TAC		0.527	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		52	82	0	0	0	1	0	52	82					C	145895223	A	C	145895223	3	2	186	1	0	0	0	0	1	0	0	0	6657	420	15	5	809	5	GPR151	5	145895223	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08	55808133	145895223	35020037	10	3271											
CALD1	800	broad.mit.edu	37	7	134618624	134618625	+	Frame_Shift_Ins	INS	-	-	C	rs193221622		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr7:134618624_134618625insC	ENST00000361675.2	+	5	1333_1334	c.1104_1105insC	c.(1105-1107)gagfs	p.E369fs	CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361901.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	369	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				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						gggcagcagaggagaggCAAAG	0.505																																						uc003vrz.3																			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.(1102-1107)gaggagfs		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618624_134618625insC	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	Exception_encountered	7.37:g.134618624_134618625insC	ENSP00000354826:p.Glu369fs		Somatic				CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Ins_p.E232fs	p.E368fs	NM_033138	NP_149129	WXS	Illumina GAIIx	Phase_I	Q05682	CALD1_HUMAN			4	1570_1571	+			368			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Frame_Shift_Ins	INS	ENST00000361675.2	37	c.1104_1105insC	CCDS5835.1																																																																																				0.505	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		2	4						2	4	---	---	---	---	C	134618625	-	C	134618624	7	5	186	1	0	1	1	0	0	0	0	0	2581	991	35	0	1171	0	CALD1	7	134618624	Frame_Shift_Ins	INS	-	TCGA-EL-A3H1-01A-11D-A21A-08		134618624	24520039	11	3272											
BRF2	55290	broad.mit.edu	37	8	37704689	37704689	+	Silent	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:37704689G>A	ENST00000220659.6	-	3	339	c.219C>T	c.(217-219)ctC>ctT	p.L73L	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Silent_p.L73L	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCACTCGCCGGAGACCTAGGA	0.498																																						uc003xkk.3																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(217-219)ctC>ctT		Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.							62	62	62					8																	37704689		2203	4300	6503	SO:0001819	synonymous_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704689G>A	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.219C>T	8.37:g.37704689G>A			Somatic					p.L73L	NM_018310	NP_060780	WXS	Illumina GAIIx	Phase_I	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		2	349	-		Lung NSC(58;0.118)|all_lung(54;0.195)	73					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000220659.6	37	c.219C>T	CCDS6098.1																																																																																				0.498	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		18	25	0	0	0	1	0	18	25					A	37704689	G	A	37704689	2	1	186	1	0	0	0	0	0	0	0	1	1511	1161	41	2		2	BRF2	8	37704689	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		37704689	108659333	12	3273											
TG	7038	broad.mit.edu	37	8	133978928	133978929	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr8:133978928_133978929insA	ENST00000220616.4	+	30	5712_5713	c.5672_5673insA	c.(5671-5676)ctatggfs	p.W1892fs	TG_ENST00000542445.1_Frame_Shift_Ins_p.W262fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.W1835fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.W46fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1892					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)		CAGGCAAACCTATGGTGCCTTT	0.48																																						uc003ytw.3																			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.(5671-5673)ctafs		Homo sapiens thyroglobulin (TG), mRNA.																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133978928_133978929insA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5673dupA	8.37:g.133978929_133978929dupA	ENSP00000220616:p.Trp1892fs		Somatic				TG_uc010mdw.3_Frame_Shift_Ins_p.L650fs|TG_uc011ljb.2_Frame_Shift_Ins_p.L260fs|TG_uc011ljc.2_Frame_Shift_Ins_p.L45fs|TG_uc010mdx.1_Intron	p.L1891fs	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	29	5713_5714	+	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)	1891					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.5672_5673insA	CCDS34944.1																																																																																				0.48	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		26	34						26	34	---	---	---	---	A	133978929	-	A	133978928	7	5	186	1	0	1	1	0	0	0	0	0	15810	1522	53	0	5790	0	TG	8	133978928	Frame_Shift_Ins	INS	-	TCGA-EL-A3H1-01A-11D-A21A-08	96274239	133978928	12385094	13	3274											
SH2D3C	10044	broad.mit.edu	37	9	130506914	130506914	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr9:130506914T>A	ENST00000314830.8	-	7	1842	c.1729A>T	c.(1729-1731)Aag>Tag	p.K577*	SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.K420*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.K417*|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.K509*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.K419*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.K223*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	577					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCTTGACCTTGCGCAGAAGG	0.622																																						uc004bsc.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1729-1731)Aag>Tag		Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.							82	82	82					9																	130506914		2203	4300	6503	SO:0001587	stop_gained	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity	g.chr9:130506914T>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1729A>T	9.37:g.130506914T>A	ENSP00000317817:p.Lys577*		Somatic				SH2D3C_uc010mxo.3_Nonsense_Mutation_p.K417*|SH2D3C_uc004bry.3_Nonsense_Mutation_p.K419*|SH2D3C_uc004brz.4_Nonsense_Mutation_p.K223*|SH2D3C_uc011mak.2_Nonsense_Mutation_p.K223*|SH2D3C_uc004bsb.3_Nonsense_Mutation_p.K509*|SH2D3C_uc004bsa.3_Nonsense_Mutation_p.K420*	p.K577*	NM_170600	NP_733745	WXS	Illumina GAIIx	Phase_I	Q8N5H7	SH2D3_HUMAN			6	1871	-			577					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	ENST00000314830.8	37	c.1729A>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	T	38	6.903284	0.97924	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.	.	.	5.42	4.21	0.49690	.	0.132658	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5666	11.3751	0.49724	0.0:0.0:0.1514:0.8486	.	.	.	.	X	420;419;509;417;223;577	.	ENSP00000317817:K577X	K	-	1	0	SH2D3C	129546735	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.835000	0.55805	2.053000	0.61076	0.459000	0.35465	AAG		0.622	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		18	115	0	0	0	1	0	18	115					A	130506914	T	A	130506914	4	1	186	1	0	0	0	0	0	1	0	0	14234	1821	63	5	877	5	SH2D3C	9	130506914	Nonsense_Mutation	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08		130506914	10706517	14	3275											
CHD4	1108	broad.mit.edu	37	12	6691343	6691343	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr12:6691343A>C	ENST00000357008.2	-	30	4638	c.4475T>G	c.(4474-4476)gTc>gGc	p.V1492G	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1485G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1517G|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.V1520G|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTAGTAAGGACATGCTGGCG	0.542																																					Colon(32;586 792 4568 16848 45314)	uc001qpp.3																			0				central_nervous_system(2)	2						c.(4549-4551)gTc>gGc		Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.							88	77	81					12																	6691343		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6691343A>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4475T>G	12.37:g.6691343A>C	ENSP00000349508:p.Val1492Gly		Somatic				CHD4_uc001qpn.3_Missense_Mutation_p.V1485G|CHD4_uc001qpo.3_Missense_Mutation_p.V1492G|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.V1517G	NM_001273	NP_001264	WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			28	4714	-			1492					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4550T>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737165	0.69304	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95069	-3.6;-3.45;-3.6;-3.45	5.76	5.76	0.90799	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	D	0.98321	1.0528	10	0.87932	D	0	-10.0069	16.087	0.81065	1.0:0.0:0.0:0.0	.	1520;1492;1485	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	1517;1485;1520;1492;1466	ENSP00000440392:V1517G;ENSP00000440542:V1485G;ENSP00000312419:V1520G;ENSP00000349508:V1492G	ENSP00000312419:V1520G	V	-	2	0	CHD4	6561604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.930000	0.92872	2.202000	0.70862	0.533000	0.62120	GTC		0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		4	53	0	0	0	1	0	4	53					C	6691343	A	C	6691343	3	2	186	1	0	0	0	0	1	0	0	0	3327	275	10	5	1307	5	CHD4	12	6691343	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08		6691343	127160552	15	3276											
ZNF410	57862	broad.mit.edu	37	14	74390223	74390223	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr14:74390223G>C	ENST00000555044.1	+	11	1590	c.1396G>C	c.(1396-1398)Gag>Cag	p.E466Q	ZNF410_ENST00000540593.1_Missense_Mutation_p.E393Q|RP5-1021I20.5_ENST00000554009.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.E419Q|ZNF410_ENST00000442160.3_Missense_Mutation_p.E483Q|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.E413Q	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	466					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)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AAATCCACAAGAGGTAAAGTG	0.443																																						uc010arz.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1447-1449)Gag>Cag		Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.							190	170	177					14																	74390223		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74390223G>C	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.1396G>C	14.37:g.74390223G>C	ENSP00000451763:p.Glu466Gln		Somatic				ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_Missense_Mutation_p.E270Q|ZNF410_uc001xoz.2_Missense_Mutation_p.E466Q|ZNF410_uc001xpb.2_Missense_Mutation_p.E419Q|ZNF410_uc010tug.2_Missense_Mutation_p.E197Q|ZNF410_uc010tuh.2_Missense_Mutation_p.E393Q|ZNF410_uc010tuj.2_Missense_Mutation_p.E270Q	p.E483Q	NM_001242924	NP_001229853	WXS	Illumina GAIIx	Phase_I	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	11	1897	+			466					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.1447G>C	CCDS9821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.966065|3.966065	0.74131|0.74131	.|.	.|.	ENSG00000119725|ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556179|ENST00000557214	T;T;T;T;T|.	0.13196|.	3.1;3.19;2.61;3.17;3.12|.	5.82|5.82	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.43747|.	D|.	0.000529|.	T|T	0.35998|0.35998	0.0951|0.0951	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;B;D;D;D;P|.	0.57899|.	0.981;0.01;0.981;0.968;0.981;0.947|.	D;B;D;D;D;D|.	0.70487|.	0.932;0.005;0.954;0.969;0.954;0.932|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.12766|.	T|.	0.61|.	.|.	11.9929|11.9929	0.53186|0.53186	0.081:0.0:0.919:0.0|0.081:0.0:0.919:0.0	.|.	466;393;483;419;455;466|.	B2RCP6;B4DR78;B4DDV5;Q86VK4-3;B4DPE9;Q86VK4|.	.;.;.;.;.;ZN410_HUMAN|.	Q|T	393;419;455;483;466;413;109|126	ENSP00000442228:E393Q;ENSP00000323293:E419Q;ENSP00000407130:E483Q;ENSP00000451763:E466Q;ENSP00000334170:E413Q|.	ENSP00000323293:E419Q|.	E|R	+|+	1|2	0|0	ZNF410|ZNF410	73459976|73459976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.239000|5.239000	0.65371|0.65371	1.473000|1.473000	0.48159|0.48159	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.443	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		40	54	0	0	0	1	0	40	54					C	74390223	G	C	74390223	3	2	186	1	0	0	0	0	1	0	0	0	17887	943	33	4	1434	4	ZNF410	14	74390223	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		74390223	32959317	16	3277											
FBN1	2200	broad.mit.edu	37	15	48788300	48788300	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:48788300C>T	ENST00000316623.5	-	20	2871	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	806	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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)		GGTTTACCTTCACATGTTTTT	0.358																																						uc001zwx.2																			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.(2416-2418)Gaa>Aaa		Homo sapiens fibrillin 1 (FBN1), mRNA.							128	132	131					15																	48788300		2197	4296	6493	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.chr15:48788300C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2416G>A	15.37:g.48788300C>T	ENSP00000325527:p.Glu806Lys		Somatic					p.E806K	NM_000138	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	19	2811	-		all_lung(180;0.00279)	806			EGF-like 12; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2416G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011188	0.93346	.	.	ENSG00000166147	ENST00000316623	D	0.87491	-2.26	6.06	6.06	0.98353	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.094270	0.64402	D	0.000001	D	0.84570	0.5501	L	0.45422	1.42	0.80722	D	1	P	0.40970	0.734	B	0.40165	0.321	T	0.82018	-0.0665	10	0.27082	T	0.32	.	19.2036	0.93720	0.0:1.0:0.0:0.0	.	806	P35555	FBN1_HUMAN	K	806	ENSP00000325527:E806K	ENSP00000325527:E806K	E	-	1	0	FBN1	46575592	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.079000	0.71291	2.880000	0.98712	0.650000	0.86243	GAA		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			12	13	0	0	0	1	0	12	13					T	48788300	C	T	48788300	3	4	186	1	0	0	0	0	1	0	0	0	5702	835	29	2	6387	2	FBN1	15	48788300	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		48788300	53743092	17	3278											
STRA6	64220	broad.mit.edu	37	15	74476216	74476216	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr15:74476216C>G	ENST00000323940.5	-	14	1526	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	STRA6_ENST00000535552.1_Missense_Mutation_p.Q464H|STRA6_ENST00000563965.1_Missense_Mutation_p.Q466H|STRA6_ENST00000574278.1_Missense_Mutation_p.Q442H|STRA6_ENST00000395105.4_Missense_Mutation_p.Q427H|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Missense_Mutation_p.Q419H|STRA6_ENST00000449139.2_Missense_Mutation_p.Q427H|STRA6_ENST00000423167.2_Missense_Mutation_p.Q418H	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	427					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAAAGGCTGTCTGGTAGGCAC	0.612																																						uc002axj.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						c.(1396-1398)caG>caC		Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.							124	108	114					15																	74476216		2198	4297	6495	SO:0001583	missense	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74476216C>G	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"retinol binding protein 4 receptor"	610745	"stimulated by retinoic acid gene 6 homolog (mouse)", "stimulated by retinoic acid 6 homolog (mouse)"			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1281G>C	15.37:g.74476216C>G	ENSP00000326085:p.Gln427His		Somatic				STRA6_uc002axi.3_Missense_Mutation_p.Q236H|STRA6_uc010ulh.2_Missense_Mutation_p.Q465H|STRA6_uc002axk.3_Missense_Mutation_p.Q427H|STRA6_uc002axl.3_Missense_Mutation_p.Q359H|STRA6_uc010bji.3_Missense_Mutation_p.Q427H|STRA6_uc021sqg.1_Missense_Mutation_p.Q442H|STRA6_uc002axm.3_Missense_Mutation_p.Q427H|STRA6_uc002axn.3_Missense_Mutation_p.Q418H|STRA6_uc010uli.2_Missense_Mutation_p.Q464H|STRA6_uc010bjj.1_Non-coding_Transcript	p.Q466H	NM_001199042	NP_001185971	WXS	Illumina GAIIx	Phase_I	Q9BX79	STRA6_HUMAN			13	1758	-			427					A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	c.1398G>C	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201635	0.38905	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.55	1.47	0.22746	.	0.310849	0.34959	N	0.003544	D	0.83968	0.5369	L	0.46157	1.445	0.80722	D	1	B;B;B;B;B;B	0.33583	0.418;0.418;0.418;0.418;0.418;0.082	B;B;B;B;B;B	0.35240	0.198;0.198;0.198;0.184;0.198;0.058	T	0.80286	-0.1446	10	0.59425	D	0.04	-11.4675	9.9809	0.41813	0.0:0.6637:0.2601:0.0762	.	464;465;418;427;466;236	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	H	427;427;359;236;466;418;464;317	ENSP00000378537:Q427H;ENSP00000326085:Q427H;ENSP00000413012:Q418H;ENSP00000440238:Q464H	ENSP00000326085:Q427H	Q	-	3	2	STRA6	72263269	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	0.780000	0.26760	0.434000	0.26340	0.563000	0.77884	CAG		0.612	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			84	107	0	0	0	1	0	84	107					G	74476216	C	G	74476216	3	3	186	1	0	0	0	0	1	0	0	0	15321	912	32	4	746	4	STRA6	15	74476216	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	25687916	74476216	28055176	18	3279											
ACSM5	54988	broad.mit.edu	37	16	20430680	20430680	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:20430680A>C	ENST00000331849.4	+	4	693	c.546A>C	c.(544-546)gaA>gaC	p.E182D	ACSM5_ENST00000575584.1_Missense_Mutation_p.E182D	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	182			E -> K (in dbSNP:rs7192210).		fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCAGTGCCGAATGCCCCTCCC	0.587																																						uc002dhe.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(544-546)gaA>gaC		Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.							72	61	65					16																	20430680		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20430680A>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.546A>C	16.37:g.20430680A>C	ENSP00000327916:p.Glu182Asp		Somatic				ACSM5_uc002dhd.1_Missense_Mutation_p.E182D	p.E182D	NM_017888	NP_060358	WXS	Illumina GAIIx	Phase_I	Q6NUN0	ACSM5_HUMAN			3	693	+			182		E -> K (in dbSNP:rs7192210).			Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.546A>C	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.247856	0.01469	.	.	ENSG00000183549	ENST00000331849	T	0.39406	1.08	4.65	1.52	0.23074	AMP-dependent synthetase/ligase (1);	0.374166	0.25759	N	0.028498	T	0.23370	0.0565	N	0.21324	0.655	0.29621	N	0.846213	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.14656	T	0.56	-16.6401	8.3887	0.32516	0.3751:0.2788:0.3461:0.0	.	182	Q6NUN0	ACSM5_HUMAN	D	182	ENSP00000327916:E182D	ENSP00000327916:E182D	E	+	3	2	ACSM5	20338181	0.008000	0.16893	0.990000	0.47175	0.127000	0.20565	-1.137000	0.03219	0.256000	0.21614	-0.893000	0.02921	GAA		0.587	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		25	37	0	0	0	1	0	25	37					C	20430680	A	C	20430680	3	2	186	1	0	0	0	0	1	0	0	0	187	98	4	5	556	5	ACSM5	16	20430680	Missense_Mutation	SNP	A	TCGA-EL-A3H1-01A-11D-A21A-08		20430680	69924073	19	3280											
CETP	1071	broad.mit.edu	37	16	57015114	57015114	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:57015114C>T	ENST00000566128.1	+	12	1263	c.996C>T	c.(994-996)ctC>ctT	p.L332L	CETP_ENST00000200676.3_Silent_p.L397L|CETP_ENST00000379780.2_Silent_p.L337L					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGAAAAAGCTCTTCTTAAGCC	0.547																																						uc002eki.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(1189-1191)ctC>ctT		Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.							79	85	83					16																	57015114		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:57015114C>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.996C>T	16.37:g.57015114C>T			Somatic				CETP_uc002ekj.2_Silent_p.L337L	p.L397L	NM_000078	NP_000069	WXS	Illumina GAIIx	Phase_I	P11597	CETP_HUMAN			11	1248	+			397						Silent	SNP	ENST00000566128.1	37	c.1191C>T																																																																																					0.547	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		13	28	0	0	0	1	0	13	28					T	57015114	C	T	57015114	2	4	186	1	0	0	0	0	0	0	0	1	3277	900	32	2		2	CETP	16	57015114	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	36584434	57015114	33339639	20	3281											
HYDIN	54768	broad.mit.edu	37	16	71218818	71218818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr16:71218818G>A	ENST00000393567.2	-	3	361	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R71*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R88*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R98*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R88*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R71*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	71					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATCTGTGGTCGGCACATCAAA	0.463																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(211-213)Cga>Tga		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							168	148	155					16																	71218818		2198	4299	6497	SO:0001587	stop_gained	54768							g.chr16:71218818G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.211C>T	16.37:g.71218818G>A	ENSP00000377197:p.Arg71*		Somatic				HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Nonsense_Mutation_p.R71*|HYDIN_uc010vmc.2_Nonsense_Mutation_p.R88*|HYDIN_uc010vmd.2_Nonsense_Mutation_p.R98*|HYDIN_uc002ezw.4_Nonsense_Mutation_p.R88*	p.R71*	NM_032821	NP_116210	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			2	362	-		Ovarian(137;0.0654)	71					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.211C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622778	0.96660	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	.	.	.	5.86	3.85	0.44370	.	0.000000	0.27554	U	0.018858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	15.0754	0.72074	0.0:0.0:0.7403:0.2597	.	.	.	.	X	71;71;71;71;71;98;88;88;71	.	ENSP00000288168:R88X	R	-	1	2	HYDIN	69776319	0.981000	0.34729	0.995000	0.50966	0.852000	0.48524	3.980000	0.56895	0.776000	0.33473	0.655000	0.94253	CGA		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			3	73	0	0	0	1	0	3	73					A	71218818	G	A	71218818	4	1	186	1	0	0	0	0	0	1	0	0	7467	1124	39	1	15499	1	HYDIN	16	71218818	Nonsense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08	14203704	71218818	19135935	21	3282											
CHD3	1107	broad.mit.edu	37	17	7800502	7800502	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:7800502G>C	ENST00000330494.7	+	11	1959	c.1809G>C	c.(1807-1809)aaG>aaC	p.K603N	CHD3_ENST00000358181.4_Missense_Mutation_p.K603N|CHD3_ENST00000380358.4_Missense_Mutation_p.K662N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	603					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGATGGGAAGAGCGACAAGC	0.512																																						uc002gjd.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1984-1986)aaG>aaC		Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.							135	109	118					17																	7800502		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7800502G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1809G>C	17.37:g.7800502G>C	ENSP00000332628:p.Lys603Asn		Somatic				CHD3_uc002gje.2_Missense_Mutation_p.K603N|CHD3_uc002gjf.2_Missense_Mutation_p.K603N|CHD3_uc002gjg.1_Missense_Mutation_p.K431N	p.K662N	NM_001005271	NP_001005271	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			10	1988	+		Prostate(122;0.202)	603			Chromo 2.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1986G>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.736683|2.736683	0.49045|0.49045	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|D;D;D	.|0.90676	.|-2.71;-2.64;-2.64	5.67|5.67	4.69|4.69	0.59074|0.59074	.|.	.|0.000000	.|0.47093	.|D	.|0.000243	D|D	0.91925|0.91925	0.7443|0.7443	L|L	0.52759|0.52759	1.655|1.655	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.59767	.|0.98;0.965;0.986	.|P;P;P	.|0.57152	.|0.814;0.656;0.738	D|D	0.91745|0.91745	0.5407|0.5407	5|10	.|0.51188	.|T	.|0.08	-31.3428|-31.3428	14.9004|14.9004	0.70675|0.70675	0.0699:0.0:0.9301:0.0|0.0699:0.0:0.9301:0.0	.|.	.|603;603;662	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	Q|N	474|662;603;603	.|ENSP00000369716:K662N;ENSP00000350907:K603N;ENSP00000332628:K603N	.|ENSP00000332628:K603N	E|K	+|+	1|3	0|2	CHD3|CHD3	7741227|7741227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.877000|2.877000	0.48506|0.48506	2.681000|2.681000	0.91329|0.91329	0.561000|0.561000	0.74099|0.74099	GAG|AAG		0.512	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		36	53	0	0	0	1	0	36	53					C	7800502	G	C	7800502	3	2	186	1	0	0	0	0	1	0	0	0	3326	933	33	4	2132	4	CHD3	17	7800502	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		7800502	73394708	22	3283											
PSMC3IP	29893	broad.mit.edu	37	17	40725136	40725136	+	Missense_Mutation	SNP	T	T	G	rs374511642		TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr17:40725136T>G	ENST00000393795.3	-	7	694	c.586A>C	c.(586-588)Aag>Cag	p.K196Q	PSMC3IP_ENST00000253789.5_Missense_Mutation_p.K184Q|MLX_ENST00000246912.4_3'UTR|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.K133Q|MLX_ENST00000346833.4_3'UTR|MLX_ENST00000435881.2_3'UTR|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.K71Q	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	196					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)|regulation of RNA biosynthetic process (GO:2001141)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AAGAACTGCTTCTTGCTCTTG	0.488																																						uc002iai.2																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7						c.(586-588)Aag>Cag		Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript variant 2, mRNA.		T	GLN/LYS,GLN/LYS,,,	0,4406		0,0,2203	147	145	146		550,586,,,	5.9	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,utr-3,utr-3	MLX,PSMC3IP	NM_013290.5,NM_016556.2,NM_170607.2,NM_198204.1,NM_198205.1	53,53,,,	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,,	184/206,196/218,,,	40725136	1,13005	2203	4300	6503	SO:0001583	missense	29893				DNA recombination|meiosis	nucleus	DNA binding	g.chr17:40725136T>G	AB030304, NM_013290, BC008792	CCDS11431.1, CCDS45688.1, CCDS59289.1	17q21.2	2012-04-10				ENSG00000131470		"Proteasome (prosome, macropain) subunits"	17928	protein-coding gene	gene with protein product	"TBP-1 interacting protein"	608665				7490091, 10806355, 11739747	Standard	NM_016556		Approved	TBPIP, GT198, HUMGT198A	uc002iai.3	Q9P2W1		ENST00000393795.3:c.586A>C	17.37:g.40725136T>G	ENSP00000377384:p.Lys196Gln		Somatic				MLX_uc002iaf.3_3'UTR|MLX_uc002iag.3_3'UTR|MLX_uc002iah.3_3'UTR|PSMC3IP_uc002iaj.3_Missense_Mutation_p.K133Q|PSMC3IP_uc010wgp.1_Non-coding_Transcript|PSMC3IP_uc002iak.2_Missense_Mutation_p.K184Q|PSMC3IP_uc010wgn.1_Missense_Mutation_p.K117Q|PSMC3IP_uc010wgo.1_Non-coding_Transcript	p.K196Q	NM_016556	NP_057640	WXS	Illumina GAIIx	Phase_I	Q9P2W1	HOP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	629	-		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)	196					C5ILB7|Q14458|Q8WXG2|Q96HA2	Missense_Mutation	SNP	ENST00000393795.3	37	c.586A>C	CCDS45688.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045276	0.93685	0.0	1.16E-4	ENSG00000131470	ENST00000393795;ENST00000253789	T;T	0.53857	0.69;0.6	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.981	T	0.73467	-0.3973	10	0.35671	T	0.21	-34.7113	16.3317	0.83023	0.0:0.0:0.0:1.0	.	184;196	Q9P2W1-2;Q9P2W1	.;HOP2_HUMAN	Q	196;184	ENSP00000377384:K196Q;ENSP00000253789:K184Q	ENSP00000253789:K184Q	K	-	1	0	PSMC3IP	37978662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.797000	0.85911	2.264000	0.75181	0.533000	0.62120	AAG		0.488	PSMC3IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450427.1	NM_013290		17	13	0	0	0	1	0	17	13					G	40725136	T	G	40725136	3	3	186	1	0	0	0	0	1	0	0	0	12688	1792	62	5	75	5	PSMC3IP	17	40725136	Missense_Mutation	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08	32924634	40725136	40470074	23	3284											
EXOC3L2	90332	broad.mit.edu	37	19	45731482	45731482	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr19:45731482C>T	ENST00000252482.3	-	2	160	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.E45K			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	45					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGTGCTCTTCGTCCTCCTGC	0.642																																						uc002pay.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(133-135)Gaa>Aaa		Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.							86	89	88					19																	45731482		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45731482C>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.133G>A	19.37:g.45731482C>T	ENSP00000252482:p.Glu45Lys		Somatic					p.E45K	NM_138568	NP_612635	WXS	Illumina GAIIx	Phase_I	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	2	174	-		all_neural(266;0.224)|Ovarian(192;0.231)	45					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.133G>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110284	0.20714	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.04970	3.52;3.52	4.89	4.89	0.63831	.	0.077143	0.49916	D	0.000130	T	0.10337	0.0253	L	0.54323	1.7	0.33677	D	0.611621	D	0.57257	0.979	P	0.51487	0.671	T	0.01819	-1.1267	10	0.02654	T	1	.	13.5202	0.61563	0.0:1.0:0.0:0.0	.	45	Q2M3D2	EX3L2_HUMAN	K	45	ENSP00000252482:E45K;ENSP00000400713:E45K	ENSP00000252482:E45K	E	-	1	0	EXOC3L2	50423322	0.945000	0.32115	0.939000	0.37840	0.155000	0.21991	2.646000	0.46630	2.267000	0.75376	0.305000	0.20034	GAA		0.642	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		5	229	0	0	0	1	0	5	229					T	45731482	C	T	45731482	3	4	186	1	0	0	0	0	1	0	0	0	5305	893	31	1	1128	1	EXOC3L2	19	45731482	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08		45731482	13397501	24	3285											
MPPED1	758	broad.mit.edu	37	22	43898562	43898562	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chr22:43898562G>A	ENST00000417669.2	+	6	1231	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	MPPED1_ENST00000443721.1_Missense_Mutation_p.G263S|MPPED1_ENST00000538182.1_Missense_Mutation_p.G296S|MPPED1_ENST00000542779.1_Missense_Mutation_p.G263S|MPPED1_ENST00000414469.2_Missense_Mutation_p.G157S|MPPED1_ENST00000439548.1_Missense_Mutation_p.G105S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	263							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCAGCGGGTGGGCTGTGTGGA	0.632																																						uc011apz.2																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(886-888)Ggc>Agc		Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.							78	91	86					22																	43898562		2187	4299	6486	SO:0001583	missense	758						hydrolase activity	g.chr22:43898562G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.787G>A	22.37:g.43898562G>A	ENSP00000388137:p.Gly263Ser		Somatic				MPPED1_uc011apv.2_Missense_Mutation_p.G263S|MPPED1_uc011apw.2_Missense_Mutation_p.G157S|MPPED1_uc011apx.2_Missense_Mutation_p.G105S|MPPED1_uc011apy.2_Missense_Mutation_p.G263S	p.G296S	NM_001044370	NP_001037835	WXS	Illumina GAIIx	Phase_I	O15442	MPPD1_HUMAN			5	1227	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	263					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.886G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506919	0.64410	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.27	3.25	0.37280	Metallophosphoesterase domain (1);	.	.	.	.	D	0.91050	0.7184	H	0.94462	3.54	0.80722	D	1	D;P	0.58620	0.983;0.799	D;P	0.64410	0.925;0.736	D	0.92502	0.6009	9	0.87932	D	0	.	12.3173	0.54964	0.0843:0.0:0.9157:0.0	.	296;263	B7Z2S9;O15442	.;MPPD1_HUMAN	S	263;263;241;157;105;263;296	ENSP00000388137:G263S;ENSP00000400686:G263S;ENSP00000388245:G157S;ENSP00000390379:G105S;ENSP00000444532:G263S;ENSP00000438335:G296S	ENSP00000388245:G157S	G	+	1	0	MPPED1	42229891	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	8.958000	0.93099	0.942000	0.37525	0.399000	0.26434	GGC		0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		20	139	0	0	0	1	0	20	139					A	43898562	G	A	43898562	3	1	186	1	0	0	0	0	1	0	0	0	9741	1232	43	2	685	2	MPPED1	22	43898562	Missense_Mutation	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		43898562	7406004	25	3286											
SEPT6	23157	broad.mit.edu	37	X	118797459	118797459	+	Silent	SNP	G	G	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:118797459G>T	ENST00000343984.5	-	3	591	c.327C>A	c.(325-327)atC>atA	p.I109I	SEPT6_ENST00000354416.3_Silent_p.I109I|SEPT6_ENST00000394616.4_Silent_p.I51I|SEPT6_ENST00000394610.1_Silent_p.I109I|SEPT6_ENST00000354228.4_Silent_p.I109I|SEPT6_ENST00000489216.1_Silent_p.I109I|SEPT6_ENST00000394617.2_Silent_p.I139I|SEPT6_ENST00000360156.7_Silent_p.I109I	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	109	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						CCTCTTTGTTGATCTGGTCCC	0.557			T	MLL	AML																																	uc011mtw.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(415-417)atC>atA		Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.							175	172	173					X																	118797459		2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118797459G>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.327C>A	X.37:g.118797459G>T			Somatic				SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.I109I|SEPT6_uc004ert.3_Silent_p.I109I|SEPT6_uc004eru.3_Silent_p.I109I|SEPT6_uc004erv.3_Silent_p.I109I|SEPT6_uc004erw.3_Silent_p.I51I|SEPT6_uc011mtv.1_Silent_p.I51I	p.I139I	NM_145800	NP_665799	WXS	Illumina GAIIx	Phase_I	Q14141	SEPT6_HUMAN			3	490	-			109					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.417C>A	CCDS14584.1																																																																																				0.557	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		19	282	0	0	0	1	0	19	282					T	118797459	G	T	118797459	2	4	186	1	0	0	0	0	0	0	0	1	14068	1280	45	4		4	SEPT6	23	118797459	Silent	SNP	G	TCGA-EL-A3H1-01A-11D-A21A-08		118797459	36473101	26	3287											
PLXNB3	5365	broad.mit.edu	37	X	153042366	153042366	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153042366C>T	ENST00000361971.5	+	29	4972	c.4858C>T	c.(4858-4860)Ctc>Ttc	p.L1620F	PLXNB3_ENST00000538966.1_Missense_Mutation_p.L1643F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1273F|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1620					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACAGTGGGGCTCGTCCCTCA	0.682																																						uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(4927-4929)Ctc>Ttc		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							30	28	28					X																	153042366		2197	4295	6492	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153042366C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4858C>T	X.37:g.153042366C>T	ENSP00000355378:p.Leu1620Phe		Somatic				PLXNB3_uc004fii.2_Missense_Mutation_p.L1620F|PLXNB3_uc011mzd.1_Missense_Mutation_p.L1259F|SRPK3_uc004fik.3_5'UTR	p.L1643F	NM_001163257	NP_001156729	WXS	Illumina GAIIx	Phase_I	Q9ULL4	PLXB3_HUMAN			29	5198	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1620					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.4927C>T	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770775|4.770775	0.90108|0.90108	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000455214|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.18810	.|2.19;2.19;2.19	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53498|0.53498	0.1800|0.1800	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.995;0.999;0.987	.|D;D;D	.|0.76071	.|0.983;0.987;0.983	T|T	0.64283|0.64283	-0.6444|-0.6444	5|10	.|0.87932	.|D	.|0	.|.	16.2486|16.2486	0.82467|0.82467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1273;1643;1620	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	V|F	123|1643;1620;1273	.|ENSP00000442736:L1643F;ENSP00000355378:L1620F;ENSP00000445569:L1273F	.|ENSP00000355378:L1620F	A|L	+|+	2|1	0|0	PLXNB3|PLXNB3	152695560|152695560	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.721000|0.721000	0.41392|0.41392	6.835000|6.835000	0.75344|0.75344	2.176000|2.176000	0.68965|0.68965	0.529000|0.529000	0.55759|0.55759	GCT|CTC		0.682	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			11	10	0	0	0	1	0	11	10					T	153042366	C	T	153042366	3	4	186	1	0	0	0	0	1	0	0	0	12125	797	28	2	5086	2	PLXNB3	23	153042366	Missense_Mutation	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	34244907	153042366	2228194	27	3288											
GDI1	2664	broad.mit.edu	37	X	153668409	153668409	+	Silent	SNP	C	C	T			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:153668409C>T	ENST00000447750.2	+	5	845	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	170					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	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)					GCATGCGTGACGTCTACCGGA	0.572																																						uc004fli.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(508-510)gaC>gaT		Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.							313	285	294					X																	153668409		2203	4300	6503	SO:0001819	synonymous_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153668409C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.510C>T	X.37:g.153668409C>T			Somatic				GDI1_uc011mzo.1_Silent_p.D170D|GDI1_uc004flj.3_5'Flank	p.D170D	NM_001493	NP_001484	WXS	Illumina GAIIx	Phase_I	P31150	GDIA_HUMAN			4	852	+	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)		170					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	c.510C>T	CCDS35452.1																																																																																				0.572	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		8	468	0	0	0	1	0	8	468					T	153668409	C	T	153668409	2	4	186	1	0	0	0	0	0	0	0	1	6320	535	19	1		1	GDI1	23	153668409	Silent	SNP	C	TCGA-EL-A3H1-01A-11D-A21A-08	626043	153668409	1602151	28	3289											
DKC1	1736	broad.mit.edu	37	X	154003524	154003524	+	Silent	SNP	T	T	A			TCGA-EL-A3H1-01A-11D-A21A-08	TCGA-EL-A3H1-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fceb56-8c6e-4d20-9d2f-5b7042854d23	0569a3fc-932d-4acc-8c2d-3bf9999c3138	g.chrX:154003524T>A	ENST00000369550.5	+	13	1524	c.1314T>A	c.(1312-1314)gtT>gtA	p.V438V	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	438					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	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)					CGCAGGTAGTTGCCGAAGCAG	0.468									Congenital Dyskeratosis																													uc004fmm.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1312-1314)gtT>gtA		Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.							118	98	105					X																	154003524		2203	4300	6503	SO:0001819	synonymous_variant	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity	g.chrX:154003524T>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1314T>A	X.37:g.154003524T>A			Somatic				DKC1_uc010nvf.3_Silent_p.V433V	p.V438V	NM_001363	NP_001354	WXS	Illumina GAIIx	Phase_I	O60832	DKC1_HUMAN			12	1524	+	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)		438					F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	ENST00000369550.5	37	c.1314T>A	CCDS14761.1																																																																																				0.468	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		39	49	0	0	0	1	0	39	49					A	154003524	T	A	154003524	2	1	186	1	0	0	0	0	0	0	0	1	4542	1799	63	5		5	DKC1	23	154003524	Silent	SNP	T	TCGA-EL-A3H1-01A-11D-A21A-08	335115	154003524	1267036	29	3290											
FAM129A	116496	broad.mit.edu	37	1	184792832	184792832	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr1:184792832C>G	ENST00000367511.3	-	7	955	c.762G>C	c.(760-762)caG>caC	p.Q254H	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_Intron	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	254					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCAGGTCTGTCTGAAGAGTGG	0.512																																						uc001gra.3																			0		p.Q254P(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(760-762)caG>caC		Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.							132	117	122					1																	184792832		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184792832C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.762G>C	1.37:g.184792832C>G	ENSP00000356481:p.Gln254His		Somatic				FAM129A_uc001grb.1_Intron|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.Q52H	p.Q254H	NM_052966	NP_443198	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			6	956	-			254					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.762G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396793	0.83120	.	.	ENSG00000135842	ENST00000367511	T	0.11930	2.73	5.76	4.85	0.62838	.	0.118599	0.64402	D	0.000017	T	0.33469	0.0864	M	0.64997	1.995	0.52099	D	0.999947	D	0.89917	1.0	D	0.87578	0.998	T	0.02950	-1.1090	10	0.48119	T	0.1	-25.5836	13.0894	0.59158	0.0:0.9262:0.0:0.0738	.	254	Q9BZQ8	NIBAN_HUMAN	H	254	ENSP00000356481:Q254H	ENSP00000356481:Q254H	Q	-	3	2	FAM129A	183059455	1.000000	0.71417	0.904000	0.35570	0.963000	0.63663	3.052000	0.49893	1.437000	0.47472	0.655000	0.94253	CAG		0.512	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			3	109	0	0	0	1	0	3	109					G	184792832	C	G	184792832	3	3	187	1	0	0	0	0	1	0	0	0	5436	912	32	4	2056	4	FAM129A	1	184792832	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		184792832	64457789	1	3291											
POTEE	445582	broad.mit.edu	37	2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:131976198A>G	ENST00000356920.5	+	1	317	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	75					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGCAGGGGGAGTGGCAAGAG	0.587																																						uc002tsn.2																			0											c.(223-225)Agt>Ggt		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							127	125	126					2																	131976198		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976198A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.223A>G	2.37:g.131976198A>G	ENSP00000439189:p.Ser75Gly		Somatic				PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.S75G	NM_001083538	NP_001077007	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			0	275	+			75					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.223A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.293	0.422244	0.11928	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.79554	-1.28;1.37	.	.	.	.	.	.	.	.	T	0.69584	0.3127	L	0.29908	0.895	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.62006	-0.6945	7	0.87932	D	0	.	.	.	.	.	75	Q6S8J3	POTEE_HUMAN	G	75	ENSP00000439189:S75G;ENSP00000443049:S75G	ENSP00000439189:S75G	S	+	1	0	AC131180.1	131692668	0.046000	0.20272	0.039000	0.18376	0.062000	0.15995	0.170000	0.16663	0.138000	0.18790	0.136000	0.15936	AGT		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		3	196	0	0	0	1	0	3	196					G	131976198	A	G	131976198	3	3	187	1	0	0	0	0	1	0	0	0	12264	304	11	3	225	3	POTEE	2	131976198	Missense_Mutation	SNP	A	TCGA-EL-A3H2-01A-11D-A20C-08		131976198	111223175	2	3292											
FKBP7	51661	broad.mit.edu	37	2	179341923	179341923	+	Missense_Mutation	SNP	C	C	G	rs533896380		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:179341923C>G	ENST00000424785.2	-	2	297	c.239G>C	c.(238-240)gGc>gCc	p.G80A	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.G80A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	80	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTGGGGTGGCCTTCATTTTG	0.383																																					Melanoma(26;682 927 5286 17599 46613)	uc002umk.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(238-240)gGc>gCc		Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.							76	77	76					2																	179341923		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179341923C>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.239G>C	2.37:g.179341923C>G	ENSP00000413152:p.Gly80Ala		Somatic				MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Missense_Mutation_p.G80A|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_Missense_Mutation_p.G76A	p.G80A	NM_181342	NP_851939	WXS	Illumina GAIIx	Phase_I	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	368	-			80			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.239G>C	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237567	0.79800	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.85411	-1.98;-1.98	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.995;0.999;0.91	D	0.92107	0.5693	10	0.54805	T	0.06	-0.0426	18.983	0.92761	0.0:1.0:0.0:0.0	.	80;80;80	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	A	80	ENSP00000413152:G80A;ENSP00000415486:G80A	ENSP00000233092:G80A	G	-	2	0	FKBP7	179050169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.739000	0.55075	2.504000	0.84457	0.563000	0.77884	GGC		0.383	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		7	85	0	0	0	1	0	7	85					G	179341923	C	G	179341923	3	3	187	1	0	0	0	0	1	0	0	0	5913	739	26	4	441	4	FKBP7	2	179341923	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	47365725	179341923	63857450	3	3293											
ERBB4	2066	broad.mit.edu	37	2	212248348	212248348	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:212248348C>A	ENST00000342788.4	-	28	4229	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ERBB4_ENST00000402597.1_Missense_Mutation_p.V1297L|ERBB4_ENST00000436443.1_Missense_Mutation_p.V1291L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1307					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)	GCTTACACCACAGTATTCCGG	0.537										TSP Lung(8;0.080)																												uc002veg.1																			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.(3919-3921)Gtg>Ttg		Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.							61	63	62					2																	212248348		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248348C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3919G>T	2.37:g.212248348C>A	ENSP00000342235:p.Val1307Leu	TSP Lung(8;0.080)	Somatic				ERBB4_uc002veh.1_Missense_Mutation_p.V1291L|ERBB4_uc010zji.1_Missense_Mutation_p.V1297L|ERBB4_uc010zjj.1_Missense_Mutation_p.V1281L	p.V1307L	NM_005235	NP_005226	WXS	Illumina GAIIx	Phase_I	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)	27	4017	-		Renal(323;0.06)|Lung NSC(271;0.197)	1307					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3919G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331053	0.81690	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.80214	-1.33;-1.35;-1.34	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	D	0.84270	0.5435	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.61697	0.99;0.99;0.99;0.984	D;D;D;D	0.75484	0.98;0.986;0.98;0.956	D	0.86232	0.1638	10	0.87932	D	0	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	1281;1297;1291;1307	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	1307;1291;1297	ENSP00000342235:V1307L;ENSP00000403204:V1291L;ENSP00000385565:V1297L	ENSP00000342235:V1307L	V	-	1	0	ERBB4	211956593	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.320000	0.79064	2.777000	0.95525	0.557000	0.71058	GTG		0.537	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		3	100	0	0	0	1	0	3	100					A	212248348	C	A	212248348	3	1	187	1	0	0	0	0	1	0	0	0	5209	478	17	4	11	4	ERBB4	2	212248348	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	32906425	212248348	30951025	4	3294											
ANKRD56	345079	broad.mit.edu	37	4	77816864	77816864	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr4:77816864A>T	ENST00000334306.2	-	1	2138	c.2139T>A	c.(2137-2139)agT>agA	p.S713R		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	713																	CAGAGGTATTACTGGTTAGAT	0.522																																						uc003hki.3																			0											c.(2137-2139)agT>agA		Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.							212	234	227					4																	77816864		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77816864A>T		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2139T>A	4.37:g.77816864A>T	ENSP00000334879:p.Ser713Arg		Somatic					p.S713R	NM_001029870	NP_001025041	WXS	Illumina GAIIx	Phase_I	A6NEL2	ANR56_HUMAN			0	2139	-			713					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.2139T>A	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352712	0.41700	.	.	ENSG00000186212	ENST00000334306	T	0.32988	1.43	5.5	-1.31	0.09230	Ankyrin repeat-containing domain (2);	0.159972	0.40064	U	0.001192	T	0.16769	0.0403	L	0.28504	0.86	0.09310	N	0.999996	B	0.21688	0.059	B	0.24541	0.054	T	0.15435	-1.0437	10	0.27082	T	0.32	-10.4786	5.7866	0.18336	0.4969:0.2445:0.2586:0.0	.	713	A6NEL2	ANR56_HUMAN	R	713	ENSP00000334879:S713R	ENSP00000334879:S713R	S	-	3	2	ANKRD56	78035888	0.000000	0.05858	0.990000	0.47175	0.487000	0.33371	-0.217000	0.09253	-0.078000	0.12730	-0.313000	0.08912	AGT		0.522	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		7	506	0	0	0	1	0	7	506					T	77816864	A	T	77816864	3	4	187	1	0	0	0	0	1	0	0	0	682	388	14	5	246	5	ANKRD56	4	77816864	Missense_Mutation	SNP	A	TCGA-EL-A3H2-01A-11D-A20C-08		77816864	113337412	5	3295											
EGFLAM	133584	broad.mit.edu	37	5	38448474	38448474	+	Silent	SNP	T	T	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr5:38448474T>C	ENST00000354891.3	+	19	2906	c.2560T>C	c.(2560-2562)Ttg>Ctg	p.L854L	EGFLAM_ENST00000336740.6_Silent_p.L612L|EGFLAM_ENST00000397202.2_Silent_p.L212L|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000322350.5_Silent_p.L846L|EGFLAM_ENST00000506135.1_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	854	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCAGATATCTTGAAGAGGTA	0.438																																					Colon(62;485 1295 3347 17454)	uc003jlc.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2560-2562)Ttg>Ctg		Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.							149	147	147					5																	38448474		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38448474T>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2560T>C	5.37:g.38448474T>C			Somatic				EGFLAM_uc003jlb.2_Silent_p.L846L|EGFLAM_uc003jle.2_Silent_p.L612L|EGFLAM_uc003jlf.2_Silent_p.L212L|EGFLAM_uc003jlg.2_5'UTR	p.L854L	NM_001205301	NP_001192230	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			18	2906	+	all_lung(31;0.000385)		854			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2560T>C	CCDS56363.1																																																																																				0.438	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		4	166	0	0	0	1	0	4	166					C	38448474	T	C	38448474	2	2	187	1	0	0	0	0	0	0	0	1	4966	1606	56	3		3	EGFLAM	5	38448474	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08		38448474	142466786	6	3296											
SYCP2L	221711	broad.mit.edu	37	6	10894117	10894117	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr6:10894117G>A	ENST00000283141.6	+	3	392	c.96G>A	c.(94-96)acG>acA	p.T32T	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	32						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CACTTATTACGGATGCATTCC	0.299																																						uc003mzo.3																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(94-96)acG>acA		Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.							34	33	33					6																	10894117		1797	4059	5856	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10894117G>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.96G>A	6.37:g.10894117G>A			Somatic				SYCP2L_uc011dim.1_Non-coding_Transcript	p.T32T	NM_001040274	NP_001035364	WXS	Illumina GAIIx	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		2	392	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	32					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.96G>A	CCDS43423.1																																																																																				0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		4	53	0	0	0	1	0	4	53					A	10894117	G	A	10894117	2	1	187	1	0	0	0	0	0	0	0	1	15430	1103	39	1		1	SYCP2L	6	10894117	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		10894117	160220950	7	3297											
CAMK2B	816	broad.mit.edu	37	7	44269096	44269096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:44269096delG	ENST00000395749.2	-	18	1306	c.1230delC	c.(1228-1230)cccfs	p.P410fs	CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000358707.3_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	410					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGGGGACCCTGGGGGCTGAGG	0.697																																						uc003tkq.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1228-1230)cccfs		Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.							6	6	6					7																	44269096		2061	4116	6177	SO:0001589	frameshift_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44269096delG	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1230delC	7.37:g.44269096delG	ENSP00000379098:p.Pro410fs		Somatic				CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_5'UTR	p.P410fs	NM_001220	NP_001211	WXS	Illumina GAIIx	Phase_I	Q13554	KCC2B_HUMAN			17	1440	-			410					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Del	DEL	ENST00000395749.2	37	c.1230delC	CCDS5483.1																																																																																				0.697	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		2	4						2	4	---	---	---	---	-	44269096	G	-	44269096	7	5	187	1	0	1	0	1	0	0	0	0	2600	1335	47	0	794	0	CAMK2B	7	44269096	Frame_Shift_Del	DEL	G	TCGA-EL-A3H2-01A-11D-A20C-08		44269096	114869567	8	3298											
COG5	10466	broad.mit.edu	37	7	106851577	106851577	+	Silent	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:106851577C>A	ENST00000347053.3	-	19	2342	c.2292G>T	c.(2290-2292)acG>acT	p.T764T	COG5_ENST00000297135.3_Silent_p.T785T|COG5_ENST00000393603.2_Silent_p.T785T	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	764					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CGGGTGCTCTCGTGAACAAAA	0.468																																						uc003vec.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(2353-2355)acG>acT		Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.							99	93	95					7																	106851577		2203	4300	6503	SO:0001819	synonymous_variant	10466				intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding	g.chr7:106851577C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2292G>T	7.37:g.106851577C>A			Somatic				COG5_uc003ved.2_Silent_p.T764T|COG5_uc003vee.2_Silent_p.T785T	p.T785T	NM_006348	NP_006339	WXS	Illumina GAIIx	Phase_I	Q9UP83	COG5_HUMAN			19	2880	-			764					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Silent	SNP	ENST00000347053.3	37	c.2355G>T	CCDS5743.1																																																																																				0.468	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			3	109	0	0	0	1	0	3	109					A	106851577	C	A	106851577	2	1	187	1	0	0	0	0	0	0	0	1	3661	871	31	4		4	COG5	7	106851577	Silent	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	62582481	106851577	52287086	9	3299											
CSMD1	64478	broad.mit.edu	37	8	3165913	3165913	+	Silent	SNP	G	G	A	rs565627705	byFrequency	TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:3165913G>A	ENST00000520002.1	-	25	4302	c.3747C>T	c.(3745-3747)taC>taT	p.Y1249Y	CSMD1_ENST00000400186.3_Silent_p.Y1249Y|CSMD1_ENST00000537824.1_Silent_p.Y1248Y|CSMD1_ENST00000542608.1_Silent_p.Y1248Y|CSMD1_ENST00000602557.1_Silent_p.Y1249Y|CSMD1_ENST00000602723.1_Silent_p.Y1249Y|CSMD1_ENST00000539096.1_Silent_p.Y1248Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1249	Sushi 7. {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)		CATGCATGGCGTACCCCGGGT	0.517													G|||	3	0.000599042	0	0.0014	5008	,	,		19083	0.001		0	False		,,,				2504	0.001					uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(3742-3744)taC>taT		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							121	115	117					8																	3165913		2073	4210	6283	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3165913G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3747C>T	8.37:g.3165913G>A			Somatic				CSMD1_uc011kwj.2_Silent_p.Y641Y|CSMD1_uc003wqe.3_Silent_p.Y405Y	p.Y1248Y	NM_033225	NP_150094	WXS	Illumina GAIIx	Phase_I	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)	23	4134	-		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)	1249			Sushi 7.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.3744C>T		.	.	.	.	.	.	.	.	.	.	G	5.019	0.189215	0.09547	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.4	-4.81	0.03180	.	.	.	.	.	T	0.62901	0.2466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63462	-0.6632	4	.	.	.	.	14.5489	0.68052	0.5923:0.0:0.4077:0.0	.	.	.	.	C	729	.	.	R	-	1	0	CSMD1	3153320	0.170000	0.23016	0.486000	0.27416	0.522000	0.34438	-0.428000	0.06991	-0.896000	0.03915	-1.149000	0.01842	CGC		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	44	0	0	0	1	0	3	44					A	3165913	G	A	3165913	2	1	187	1	0	0	0	0	0	0	0	1	3944	1140	40	1		1	CSMD1	8	3165913	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		3165913	143198109	10	3300											
TMEM67	91147	broad.mit.edu	37	8	94809588	94809588	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:94809588C>A	ENST00000453321.3	+	20	2048	c.1990C>A	c.(1990-1992)Cct>Act	p.P664T	TMEM67_ENST00000409623.3_Missense_Mutation_p.P583T	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	664					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGCCACTGTTCCTGTAAGCAT	0.373																																						uc011lgk.2																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(1990-1992)Cct>Act		Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.							162	152	156					8																	94809588		2203	4300	6503	SO:0001583	missense	91147				ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94809588C>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1990C>A	8.37:g.94809588C>A	ENSP00000389998:p.Pro664Thr		Somatic				TMEM67_uc010maw.2_Missense_Mutation_p.P370T|TMEM67_uc003yga.4_Missense_Mutation_p.P583T|TMEM67_uc011lgl.2_Missense_Mutation_p.P63T	p.P664T	NM_153704	NP_714915	WXS	Illumina GAIIx	Phase_I	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		19	2061	+	Breast(36;4.14e-07)		664					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.1990C>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741008	0.89573	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97505	-4.41;-4.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.991;0.968	D	0.99129	1.0852	10	0.87932	D	0	-15.9077	19.6576	0.95849	0.0:1.0:0.0:0.0	.	664;583;583	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	T	664;583	ENSP00000389998:P664T;ENSP00000386966:P583T	ENSP00000314488:P654T	P	+	1	0	TMEM67	94878764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.651000	0.90000	0.650000	0.86243	CCT		0.373	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		46	98	0	0	0	1	0	46	98					A	94809588	C	A	94809588	3	1	187	1	0	0	0	0	1	0	0	0	16193	855	30	4	2206	4	TMEM67	8	94809588	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	91643675	94809588	51554434	11	3301											
ZNF169	169841	broad.mit.edu	37	9	97063337	97063337	+	Silent	SNP	G	G	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:97063337G>T	ENST00000395395.2	+	5	1587	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	499					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(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCTTTAAGTCGCTCCTCACCC	0.547																																						uc004aum.1																			0		p.S499L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1495-1497)tcG>tcT		Homo sapiens zinc finger protein 169 (ZNF169), mRNA.							92	79	84					9																	97063337		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063337G>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1497G>T	9.37:g.97063337G>T			Somatic				ZNF169_uc022bki.1_Silent_p.S500S	p.S499S	NM_194320	NP_919301	WXS	Illumina GAIIx	Phase_I	Q14929	ZN169_HUMAN			4	1602	+		Acute lymphoblastic leukemia(62;0.136)	499					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1497G>T	CCDS6709.2																																																																																				0.547	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		47	46	0	0	0	1	0	47	46					T	97063337	G	T	97063337	2	4	187	1	0	0	0	0	0	0	0	1	17739	1074	38	4		4	ZNF169	9	97063337	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		97063337	44150094	12	3302											
CRAT	1384	broad.mit.edu	37	9	131866547	131866547	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:131866547G>A	ENST00000318080.2	-	3	624	c.330C>T	c.(328-330)taC>taT	p.Y110Y	CRAT_ENST00000464290.1_Intron|AL158151.2_ENST00000408594.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	110					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGGCTGGCGGTACTGGAGGT	0.637																																						uc004bxh.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(328-330)taC>taT		Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)						48	37	41					9																	131866547		2202	4300	6502	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131866547G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.330C>T	9.37:g.131866547G>A			Somatic				CRAT_uc004bxk.4_Silent_p.Y89Y	p.Y110Y	NM_000755	NP_000746	WXS	Illumina GAIIx	Phase_I	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	2	612	-			110					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.330C>T	CCDS6919.1																																																																																				0.637	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			3	35	0	0	0	1	0	3	35					A	131866547	G	A	131866547	2	1	187	1	0	0	0	0	0	0	0	1	3847	1256	44	2		2	CRAT	9	131866547	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08	34803210	131866547	9346884	13	3303											
C10orf71	118461	broad.mit.edu	37	10	50531657	50531657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr10:50531657delC	ENST00000374144.3	+	3	1355	c.1067delC	c.(1066-1068)gccfs	p.A356fs	C10orf71_ENST00000323868.4_Frame_Shift_Del_p.A356fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	356										endometrium(1)	1						GATCCAGGAGCCCAGGTATTT	0.567																																						uc021pqb.1																			0				endometrium(1)	1						c.(1066-1068)gccfs		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.							45	48	47					10																	50531657		1886	4101	5987	SO:0001589	frameshift_variant	118461							g.chr10:50531657delC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1067delC	10.37:g.50531657delC	ENSP00000363259:p.Ala356fs		Somatic				C10orf71_uc021pqa.1_Frame_Shift_Del_p.A355fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.A356fs	p.A356fs	NM_001135196	NP_001128668	WXS	Illumina GAIIx	Phase_I	Q711Q0	CJ071_HUMAN			0	1067	+			356					A0AVL8	Frame_Shift_Del	DEL	ENST00000374144.3	37	c.1067delC	CCDS44387.1																																																																																				0.567	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		43	55						43	55	---	---	---	---	-	50531657	C	-	50531657	7	5	187	1	0	1	0	1	0	0	0	0	1614	739	26	0	1069	0	C10orf71	10	50531657	Frame_Shift_Del	DEL	C	TCGA-EL-A3H2-01A-11D-A20C-08		50531657	85003090	14	3304											
IFLTD1	160492	broad.mit.edu	37	12	25702464	25702464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr12:25702464C>A	ENST00000282881.6	-	2	192	c.43G>T	c.(43-45)Gga>Tga	p.G15*	IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.G36*|IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.G36*	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		15					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GAATATACTCCAAGTTTGTCT	0.323																																						uc010sji.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(106-108)Gga>Tga		Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.							61	55	57					12																	25702464		2203	4298	6501	SO:0001587	stop_gained	160492					intermediate filament	structural molecule activity	g.chr12:25702464C>A																												ENST00000282881.6:c.43G>T	12.37:g.25702464C>A	ENSP00000282881:p.Gly15*		Somatic				IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Nonsense_Mutation_p.G15*|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Nonsense_Mutation_p.G36*	p.G36*	NM_001145728	NP_001139200	WXS	Illumina GAIIx	Phase_I	Q8N9Z9	ILFT1_HUMAN			2	351	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		15					B4DL27|B4DY70|Q8IY38	Nonsense_Mutation	SNP	ENST00000282881.6	37	c.106G>T	CCDS8704.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169770	0.57584	.	.	ENSG00000152936	ENST00000282881;ENST00000458174;ENST00000413632	.	.	.	3.89	0.324	0.15898	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.7119	6.4763	0.22037	0.0:0.6322:0.0:0.3678	.	.	.	.	X	15;36;36	.	ENSP00000282881:G15X	G	-	1	0	IFLTD1	25593731	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.270000	0.18607	0.038000	0.15604	0.655000	0.94253	GGA		0.323	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1			4	107	0	0	0	1	0	4	107					A	25702464	C	A	25702464	4	1	187	1	0	0	0	0	0	1	0	0	7530	603	21	4	1151	4	IFLTD1	12	25702464	Nonsense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		25702464	108149431	15	3305											
EFS	10278	broad.mit.edu	37	14	23826572	23826572	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23826572C>A	ENST00000216733.3	-	6	2156	c.1549G>T	c.(1549-1551)Gcc>Tcc	p.A517S	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.A424S|EFS_ENST00000429593.2_Missense_Mutation_p.A348S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	517					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGCACAGTGGCCCGCAATGCC	0.647																																						uc001wjo.3																			0		p.R516Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1549-1551)Gcc>Tcc		Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.							42	44	44					14																	23826572		2203	4300	6503	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826572C>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1549G>T	14.37:g.23826572C>A	ENSP00000216733:p.Ala517Ser		Somatic				EFS_uc001wjp.3_Missense_Mutation_p.A424S|EFS_uc010tnm.2_Missense_Mutation_p.A348S	p.A517S	NM_005864	NP_005855	WXS	Illumina GAIIx	Phase_I	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	5	2157	-	all_cancers(95;7.12e-06)		517					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1549G>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173336	0.38413	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.22336	1.96;1.96;1.96	4.69	2.85	0.33270	CAS family, DUF3513 (1);	0.370951	0.26609	N	0.023433	T	0.18635	0.0447	L	0.55103	1.725	0.32616	N	0.524006	B;B;B	0.30793	0.295;0.013;0.146	B;B;B	0.32624	0.149;0.015;0.074	T	0.18085	-1.0348	10	0.21014	T	0.42	-9.2853	8.3912	0.32528	0.1543:0.7627:0.0:0.083	.	348;424;517	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	S	517;424;348	ENSP00000216733:A517S;ENSP00000340607:A424S;ENSP00000416684:A348S	ENSP00000216733:A517S	A	-	1	0	EFS	22896412	0.999000	0.42202	0.995000	0.50966	0.948000	0.59901	1.196000	0.32198	0.569000	0.29329	0.655000	0.94253	GCC		0.647	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			11	81	0	0	0	1	0	11	81					A	23826572	C	A	23826572	3	1	187	1	0	0	0	0	1	0	0	0	4959	739	26	4	140	4	EFS	14	23826572	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		23826572	83522968	16	3306											
MYH7	4625	broad.mit.edu	37	14	23885503	23885503	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23885503C>T	ENST00000355349.3	-	34	4825	c.4663G>A	c.(4663-4665)Gag>Aag	p.E1555K	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1555			E -> K (in CMH1). {ECO:0000269|PubMed:11968089}.		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)		ATCTTGCCCTCCTCGTGCTCC	0.627																																						uc001wjx.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	GRCh37	CM020953	MYH7	M		c.(4663-4665)Gag>Aag		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.							86	87	87					14																	23885503		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	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885503C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4663G>A	14.37:g.23885503C>T	ENSP00000347507:p.Glu1555Lys		Somatic					p.E1555K	NM_000257	NP_000248	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	33	4769	-	all_cancers(95;2.54e-05)		1555		E -> K (in CMH1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4663G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936839	0.73557	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84730	-1.89	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.90614	0.7057	M	0.90198	3.095	0.58432	D	0.999999	P	0.42649	0.786	P	0.46585	0.521	D	0.92969	0.6396	9	0.87932	D	0	.	17.8682	0.88803	0.0:1.0:0.0:0.0	.	1555	P12883	MYH7_HUMAN	K	1555;1560	ENSP00000347507:E1555K	ENSP00000347507:E1555K	E	-	1	0	MYH7	22955343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.537000	0.85549	0.655000	0.94253	GAG		0.627	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	217	0	0	0	1	0	8	217					T	23885503	C	T	23885503	3	4	187	1	0	0	0	0	1	0	0	0	10039	864	30	2	1172	2	MYH7	14	23885503	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	58931	23885503	83464037	17	3307											
MLH3	27030	broad.mit.edu	37	14	75514649	75514649	+	Silent	SNP	T	T	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:75514649T>C	ENST00000556740.1	-	1	1745	c.1710A>G	c.(1708-1710)acA>acG	p.T570T	MLH3_ENST00000355774.2_Silent_p.T570T|MLH3_ENST00000238662.7_Silent_p.T570T|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Silent_p.T570T			Q9UHC1	MLH3_HUMAN	mutL homolog 3	570					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTCCCCATAATGTTGTTGCAA	0.363								Mismatch excision repair (MMR)																														uc001xrd.1																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1708-1710)acA>acG	Mismatch excision repair (MMR)	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.							127	128	128					14																	75514649		2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514649T>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1710A>G	14.37:g.75514649T>C			Somatic				MLH3_uc001xre.1_Silent_p.T570T|MLH3_uc010tuy.1_Non-coding_Transcript	p.T570T	NM_001040108	NP_001035197	WXS	Illumina GAIIx	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	1	1926	-			570					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.1710A>G	CCDS32123.1																																																																																				0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		3	96	0	0	0	1	0	3	96					C	75514649	T	C	75514649	2	2	187	1	0	0	0	0	0	0	0	1	9618	1451	51	3		3	MLH3	14	75514649	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08	51629146	75514649	31834891	18	3308											
ARHGAP17	55114	broad.mit.edu	37	16	24953431	24953431	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:24953431G>A	ENST00000289968.6	-	16	1436	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P456L|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	456					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)		GGTGGTGAGAGGTACAAATGC	0.507																																						uc002dnb.3																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1366-1368)cCt>cTt		Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.							100	100	100					16																	24953431		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.chr16:24953431G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1367C>T	16.37:g.24953431G>A	ENSP00000289968:p.Pro456Leu		Somatic				ARHGAP17_uc002dmz.3_5'Flank|ARHGAP17_uc002dna.3_Missense_Mutation_p.P183L|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P456L|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P277L	p.P456L	NM_001006634	NP_001006635	WXS	Illumina GAIIx	Phase_I	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	15	1460	-			456					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1367C>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849797	0.51270	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.23950	1.88;1.97	5.85	3.8	0.43715	.	0.394507	0.18892	N	0.128275	T	0.13500	0.0327	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.003	T	0.06716	-1.0811	10	0.35671	T	0.21	.	9.2866	0.37760	0.085:0.1592:0.7558:0.0	.	456;456	Q68EM7-2;Q68EM7	.;RHG17_HUMAN	L	456	ENSP00000289968:P456L;ENSP00000303130:P456L	ENSP00000289968:P456L	P	-	2	0	ARHGAP17	24860932	0.984000	0.35163	0.997000	0.53966	0.984000	0.73092	1.764000	0.38471	2.773000	0.95371	0.655000	0.94253	CCT		0.507	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		3	119	0	0	0	1	0	3	119					A	24953431	G	A	24953431	3	1	187	1	0	0	0	0	1	0	0	0	867	1000	35	2	1298	2	ARHGAP17	16	24953431	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		24953431	65401322	19	3309											
NFAT5	10725	broad.mit.edu	37	16	69727410	69727410	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:69727410C>A	ENST00000354436.2	+	12	3946	c.3628C>A	c.(3628-3630)Cag>Aag	p.Q1210K	NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1227K|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1228K|NFAT5_ENST00000349945.1_Missense_Mutation_p.Q1134K|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1134K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1134K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1210					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGTTTATTTCAGCCTCAGGT	0.512																																						uc002exl.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3682-3684)Cag>Aag		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							79	81	80					16																	69727410		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727410C>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3628C>A	16.37:g.69727410C>A	ENSP00000346420:p.Gln1210Lys		Somatic				NFAT5_uc002exj.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exk.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exn.2_Missense_Mutation_p.Q1227K|NFAT5_uc002exm.2_Missense_Mutation_p.Q1210K|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.Q1134K	p.Q1228K	NM_138713	NP_775322	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			12	4018	+			1210					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3682C>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214707	0.58452	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.60548	0.68;0.18;0.18;0.18	5.46	5.46	0.80206	.	0.398439	0.29631	N	0.011608	T	0.73225	0.3560	L	0.56769	1.78	0.53688	D	0.999978	D;P;P	0.54964	0.969;0.924;0.924	D;P;P	0.64877	0.93;0.9;0.9	T	0.74598	-0.3612	10	0.66056	D	0.02	-1.0247	19.3102	0.94184	0.0:1.0:0.0:0.0	.	1227;1210;1228	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	K	1228;1227;1134;1210;1134	ENSP00000396538:Q1228K;ENSP00000338806:Q1134K;ENSP00000346420:Q1210K;ENSP00000377343:Q1134K	ENSP00000338806:Q1134K	Q	+	1	0	NFAT5	68284911	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.677000	0.68142	2.565000	0.86533	0.555000	0.69702	CAG		0.512	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	110	0	0	0	1	0	4	110					A	69727410	C	A	69727410	3	1	187	1	0	0	0	0	1	0	0	0	10360	827	29	4	3732	4	NFAT5	16	69727410	Missense_Mutation	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08	44773979	69727410	20627343	20	3310											
STAT5B	6777	broad.mit.edu	37	17	40354774	40354774	+	Splice_Site	SNP	C	C	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr17:40354774C>G	ENST00000293328.3	-	17	2298		c.e17+1			NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B						2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGACACTTACTCAGGGACCA	0.532																																						uc002hzh.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e17+1		Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	Dasatinib(DB01254)						310	232	258					17																	40354774		2203	4300	6503	SO:0001630	splice_region_variant	6777				2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40354774C>G	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2129+1G>C	17.37:g.40354774C>G			Somatic					p.E710_splice	NM_012448	NP_036580	WXS	Illumina GAIIx	Phase_I	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	17	2298	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	710					Q8WWS8	Splice_Site	SNP	ENST00000293328.3	37	c.2129_splice	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101081	0.76983	.	.	ENSG00000173757	ENST00000293328	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3352	0.87278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT5B	37608300	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.466000	0.80914	2.323000	0.78572	0.561000	0.74099	.		0.532	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	Intron	9	232	0	0	0	1	0	9	232					G	40354774	C	G	40354774	5	3	187	1	0	0	0	0	0	0	1	0	15268	579	20	4	245	4	STAT5B	17	40354774	Splice_Site	SNP	C	TCGA-EL-A3H2-01A-11D-A20C-08		40354774	40840436	21	3311											
DSG4	147409	broad.mit.edu	37	18	28986167	28986167	+	Silent	SNP	T	T	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr18:28986167T>C	ENST00000308128.4	+	12	1899	c.1764T>C	c.(1762-1764)gaT>gaC	p.D588D	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Silent_p.D588D	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	588					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGCCTGTGATTGCGATGACA	0.483																																						uc002kwr.2																			0		p.C587S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1762-1764)gaT>gaC		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							113	108	110					18																	28986167		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986167T>C	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1764T>C	18.37:g.28986167T>C			Somatic				DSG4_uc002kwq.2_Silent_p.D588D	p.D588D	NM_001134453	NP_001127925	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1899	+			588					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1764T>C	CCDS11897.1																																																																																				0.483	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		10	99	0	0	0	1	0	10	99					C	28986167	T	C	28986167	2	2	187	1	0	0	0	0	0	0	0	1	4779	1490	52	3		3	DSG4	18	28986167	Silent	SNP	T	TCGA-EL-A3H2-01A-11D-A20C-08		28986167	49091081	22	3312											
KIAA1683	80726	broad.mit.edu	37	19	18378325	18378325	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18378325G>A	ENST00000600328.3	-	3	218	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	KIAA1683_ENST00000600359.3_5'UTR|KIAA1683_ENST00000392413.4_Silent_p.L9L			Q9H0B3	K1683_HUMAN	KIAA1683	9						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCGGACAGGTCAGCTCTG	0.667																																						uc010ebn.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(25-27)Ctg>Ttg		Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.							53	60	57					19																	18378325		2201	4294	6495	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18378325G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.25C>T	19.37:g.18378325G>A			Somatic				KIAA1683_uc002nin.2_Silent_p.L9L|KIAA1683_uc010xqe.1_5'UTR	p.L9L	NM_001145304	NP_001138776	WXS	Illumina GAIIx	Phase_I	Q9H0B3	K1683_HUMAN			2	241	-			9					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.25C>T	CCDS32958.1																																																																																				0.667	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			3	101	0	0	0	1	0	3	101					A	18378325	G	A	18378325	2	1	187	1	0	0	0	0	0	0	0	1	8251	991	35	2		2	KIAA1683	19	18378325	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		18378325	40750658	23	3313											
FKBP8	23770	broad.mit.edu	37	19	18650451	18650451	+	Silent	SNP	G	G	A	rs367858174	byFrequency	TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18650451G>A	ENST00000596558.2	-	3	481	c.372C>T	c.(370-372)acC>acT	p.T124T	FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000597960.3_Silent_p.T124T|FKBP8_ENST00000608443.1_Silent_p.T124T|FKBP8_ENST00000453489.2_Silent_p.T153T|FKBP8_ENST00000222308.4_Silent_p.T124T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	124	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCAGATGTACGGTGACCACCT	0.652																																						uc010xqi.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(457-459)acC>acT		Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.							140	146	144					19																	18650451		2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18650451G>A	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.372C>T	19.37:g.18650451G>A			Somatic				FKBP8_uc002njj.1_Silent_p.T124T|FKBP8_uc002njk.1_Silent_p.T124T|FKBP8_uc021uqp.1_Intron	p.T153T	NM_012181	NP_036313	WXS	Illumina GAIIx	Phase_I	Q14318	FKBP8_HUMAN			2	482	-			124			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.459C>T																																																																																					0.652	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		4	202	0	0	0	1	0	4	202					A	18650451	G	A	18650451	2	1	187	1	0	0	0	0	0	0	0	1	5914	1103	39	1		1	FKBP8	19	18650451	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08	272126	18650451	40478532	24	3314											
TRIB3	57761	broad.mit.edu	37	20	377081	377081	+	Missense_Mutation	SNP	G	G	A	rs140801463		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr20:377081G>A	ENST00000217233.3	+	4	1377	c.824G>A	c.(823-825)cGc>cAc	p.R275H	TRIB3_ENST00000422053.2_Missense_Mutation_p.R302H	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AAGATCCGCCGCGGGGCCTAC	0.692													G|||	1	0.000199681	0	0	5008	,	,		17981	0		0.001	False		,,,				2504	0				Melanoma(101;421 2374 19538)	uc002wdn.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(904-906)cGc>cAc		Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.		G	HIS/ARG	0,4406		0,0,2203	50	50	50		824	5.2	0.7	20	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRIB3	NM_021158.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	275/359	377081	1,13005	2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:377081G>A	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.824G>A	20.37:g.377081G>A	ENSP00000217233:p.Arg275His		Somatic				TRIB3_uc002wdm.3_Missense_Mutation_p.R275H	p.R302H	NM_021158	NP_066981	WXS	Illumina GAIIx	Phase_I	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1222	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	275			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.905G>A	CCDS12997.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.40	3.614896	0.66672	0.0	1.16E-4	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.66099	-0.19;-0.19	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000609	T	0.68430	0.3000	M	0.64170	1.965	0.41503	D	0.988292	D;D	0.61697	0.99;0.99	P;P	0.49999	0.628;0.628	T	0.72921	-0.4145	10	0.66056	D	0.02	-16.6532	16.343	0.83101	0.0:0.0:1.0:0.0	.	302;275	B4DMM9;Q96RU7	.;TRIB3_HUMAN	H	275;302	ENSP00000217233:R275H;ENSP00000415416:R302H	ENSP00000217233:R275H	R	+	2	0	TRIB3	325081	0.995000	0.38212	0.712000	0.30502	0.502000	0.33828	5.601000	0.67606	2.716000	0.92895	0.655000	0.94253	CGC		0.692	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		5	97	0	0	0	1	0	5	97					A	377081	G	A	377081	3	1	187	1	0	0	0	0	1	0	0	0	16481	1087	38	1	834	1	TRIB3	20	377081	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		377081	62648439	25	3315											
DSCAM	1826	broad.mit.edu	37	21	41414505	41414505	+	Silent	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr21:41414505G>A	ENST00000400454.1	-	32	5956	c.5479C>T	c.(5479-5481)Ctg>Ttg	p.L1827L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1827					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)				GCGTGCCTCAGTTGCTCTTCC	0.537																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.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.(5479-5481)Ctg>Ttg		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.							192	182	186					21																	41414505		2150	4262	6412	SO:0001819	synonymous_variant	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.chr21:41414505G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5479C>T	21.37:g.41414505G>A			Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.L1827L	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			31	5931	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1827					O60468	Silent	SNP	ENST00000400454.1	37	c.5479C>T	CCDS42929.1																																																																																				0.537	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		4	136	0	0	0	1	0	4	136					A	41414505	G	A	41414505	2	1	187	1	0	0	0	0	0	0	0	1	4768	1020	36	2		2	DSCAM	21	41414505	Silent	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		41414505	6715390	26	3316											
MYO18B	84700	broad.mit.edu	37	22	26423340	26423340	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr22:26423340G>A	ENST00000407587.2	+	43	7572	c.7403G>A	c.(7402-7404)gGt>gAt	p.G2468D	MYO18B_ENST00000536101.1_Missense_Mutation_p.G2467D|MYO18B_ENST00000335473.7_Missense_Mutation_p.G2467D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2467						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						GGGCAAGACGGTTCACAGCGT	0.542																																						uc003abz.1																			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.(7399-7401)gGt>gAt		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							94	98	97					22																	26423340		2011	4156	6167	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	g.chr22:26423340G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7403G>A	22.37:g.26423340G>A	ENSP00000386096:p.Gly2468Asp		Somatic				MYO18B_uc003aca.1_Missense_Mutation_p.G2348D|MYO18B_uc010guy.1_Missense_Mutation_p.G2349D|MYO18B_uc010guz.1_Missense_Mutation_p.G2347D|MYO18B_uc011aka.1_Missense_Mutation_p.G1621D|MYO18B_uc011akb.1_Missense_Mutation_p.G1980D|MYO18B_uc010gva.1_Missense_Mutation_p.G450D|MYO18B_uc010gvb.1_Non-coding_Transcript	p.G2467D	NM_032608	NP_115997	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			42	7650	+			2467					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7400G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.712|7.712	0.695401|0.695401	0.15106|0.15106	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.87887|.	-2.29;-2.29;-2.31|.	5.17|5.17	1.76|1.76	0.24704|0.24704	.|.	1.366540|.	0.04730|.	N|.	0.421043|.	T|T	0.23014|0.23014	0.0556|0.0556	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.15141|.	0.003;0.007;0.007;0.003;0.012|.	B;B;B;B;B|.	0.18561|.	0.006;0.01;0.01;0.004;0.022|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.66056|.	D|.	0.02|.	.|.	7.4188|7.4188	0.27061|0.27061	0.1585:0.1367:0.7049:0.0|0.1585:0.1367:0.7049:0.0	.|.	1980;2469;2467;2468;2467|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2467;2467;2468|417	ENSP00000441229:G2467D;ENSP00000334563:G2467D;ENSP00000386096:G2468D|.	ENSP00000334563:G2467D|.	G|V	+|+	2|1	0|0	MYO18B|MYO18B	24753340|24753340	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.726000|0.726000	0.25984|0.25984	0.524000|0.524000	0.28502|0.28502	0.561000|0.561000	0.74099|0.74099	GGT|GTT		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	94	0	0	0	1	0	4	94					A	26423340	G	A	26423340	3	1	187	1	0	0	0	0	1	0	0	0	10066	1261	44	2	7566	2	MYO18B	22	26423340	Missense_Mutation	SNP	G	TCGA-EL-A3H2-01A-11D-A20C-08		26423340	24881226	27	3317											
MMADHC	27249	broad.mit.edu	37	2	150426631	150426631	+	Nonsense_Mutation	SNP	G	G	A	rs118204048		TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr2:150426631G>A	ENST00000428879.1	-	7	1252	c.748C>T	c.(748-750)Cga>Tga	p.R250*	MMADHC_ENST00000303319.5_Nonsense_Mutation_p.R250*|MMADHC_ENST00000422782.2_Nonsense_Mutation_p.R284*			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	250					cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						CCTAAATGTCGGTAGCGTTCA	0.368																																						uc002txc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11	GRCh37	CM081188	MMADHC	M	rs118204048	c.(748-750)Cga>Tga		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA.							87	80	82					2																	150426631		2203	4300	6503	SO:0001587	stop_gained	27249					mitochondrion		g.chr2:150426631G>A	BC023995	CCDS2189.1	2q23	2011-05-12	2009-01-08	2009-01-08	ENSG00000168288	ENSG00000168288			25221	protein-coding gene	gene with protein product		611935	"chromosome 2 open reading frame 25"	C2orf25		18385497	Standard	NM_015702		Approved	CL25022, cblD	uc002txc.3	Q9H3L0	OTTHUMG00000155558	ENST00000428879.1:c.748C>T	2.37:g.150426631G>A	ENSP00000389060:p.Arg250*		Somatic					p.R250*	NM_015702	NP_056517	WXS	Illumina GAIIx	Phase_I	Q9H3L0	MMAD_HUMAN			7	953	-			250					B2R895|D3DP91|O95891	Nonsense_Mutation	SNP	ENST00000428879.1	37	c.748C>T	CCDS2189.1	.	.	.	.	.	.	.	.	.	.	G	37	6.263544	0.97421	.	.	ENSG00000168288	ENST00000303319;ENST00000428879;ENST00000422782	.	.	.	5.03	5.03	0.67393	.	0.121454	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.4275	17.7164	0.88338	0.0:0.0:1.0:0.0	.	.	.	.	X	250;250;284	.	ENSP00000301920:R250X	R	-	1	2	MMADHC	150134877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.620000	0.61226	2.501000	0.84356	0.655000	0.94253	CGA		0.368	MMADHC-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332312.1	NM_015702		3	42	0	0	0	1	0	3	42					A	150426631	G	A	150426631	4	1	188	1	0	0	0	0	0	1	0	0	9642	1124	39	1	146	1	MMADHC	2	150426631	Nonsense_Mutation	SNP	G	TCGA-EL-A3H3-01A-11D-A202-08		150426631	92772742	1	3318											
PRKDC	5591	broad.mit.edu	37	8	48774649	48774649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr8:48774649delG	ENST00000314191.2	-	45	6012	c.5956delC	c.(5956-5958)cgcfs	p.R1986fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R1986fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1987					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)	AAATTATAGCGGCGCTTCAGG	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				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						c.(5956-5958)cgcfs	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							43	38	39					8																	48774649		1786	4019	5805	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48774649delG		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5956delC	8.37:g.48774649delG	ENSP00000313420:p.Arg1986fs		Somatic				PRKDC_uc003xqj.3_Frame_Shift_Del_p.R1986fs	p.R1986fs	NM_006904	NP_008835	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			44	6013	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1987					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.5956delC																																																																																					0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		2	4						2	4	---	---	---	---	-	48774649	G	-	48774649	7	5	188	1	0	1	0	1	0	0	0	0	12521	1116	39	0	6599	0	PRKDC	8	48774649	Frame_Shift_Del	DEL	G	TCGA-EL-A3H3-01A-11D-A202-08		48774649	97589373	2	3319											
PPAPDC2	403313	broad.mit.edu	37	9	4662738	4662738	+	Silent	SNP	G	G	C			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chr9:4662738G>C	ENST00000381883.2	+	1	441	c.363G>C	c.(361-363)gcG>gcC	p.A121A	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000454239.2_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	121						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGGTGTGCGCGGGAGAGAGCT	0.657											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)	uc003zin.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(361-363)gcG>gcC		Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.							44	43	43					9																	4662738		2203	4300	6503	SO:0001819	synonymous_variant	403313					integral to membrane	hydrolase activity	g.chr9:4662738G>C	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.363G>C	9.37:g.4662738G>C			Somatic	OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	p.A121A	NM_203453	NP_982278	WXS	Illumina GAIIx	Phase_I	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	0	441	+	all_hematologic(13;0.137)	Breast(48;0.238)	121					B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	ENST00000381883.2	37	c.363G>C	CCDS34981.1																																																																																				0.657	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		15	32	0	0	0	1	0	15	32					C	4662738	G	C	4662738	2	2	188	1	0	0	0	0	0	0	0	1	12295	1103	39	4		4	PPAPDC2	9	4662738	Silent	SNP	G	TCGA-EL-A3H3-01A-11D-A202-08		4662738	136550693	3	3320											
GNL3L	54552	broad.mit.edu	37	X	54581094	54581094	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H3-01A-11D-A202-08	TCGA-EL-A3H3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59a10c8a-5ba5-40f2-a72b-4febca3f8871	fd8ecb34-a0b7-4c8e-a43a-4f1b3fdb14fa	g.chrX:54581094A>T	ENST00000336470.4	+	14	1554	c.1415A>T	c.(1414-1416)gAt>gTt	p.D472V	GNL3L_ENST00000360845.2_Missense_Mutation_p.D472V	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	472					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAAATAGCAGATGCCATTGAA	0.483																																						uc022bxi.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1414-1416)gAt>gTt		Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.							157	131	139					X																	54581094		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54581094A>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1415A>T	X.37:g.54581094A>T	ENSP00000338573:p.Asp472Val		Somatic				GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.D472V	p.D472V	NM_001184819	NP_061940	WXS	Illumina GAIIx	Phase_I	Q9NVN8	GNL3L_HUMAN			13	1671	+			472						Missense_Mutation	SNP	ENST00000336470.4	37	c.1415A>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610030	0.28712	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.19669	2.13;2.13	3.97	2.81	0.32909	.	0.379543	0.30168	N	0.010249	T	0.10809	0.0264	N	0.19112	0.55	0.80722	D	1	B	0.30068	0.267	B	0.25405	0.06	T	0.14671	-1.0464	10	0.42905	T	0.14	-26.4751	4.9878	0.14198	0.8635:0.0:0.1365:0.0	.	472	Q9NVN8	GNL3L_HUMAN	V	472	ENSP00000338573:D472V;ENSP00000354091:D472V	ENSP00000338573:D472V	D	+	2	0	GNL3L	54597819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.330000	0.33781	0.693000	0.31634	0.481000	0.45027	GAT		0.483	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		4	78	0	0	0	1	0	4	78					T	54581094	A	T	54581094	3	4	188	1	0	0	0	0	1	0	0	0	6538	333	12	5	1465	5	GNL3L	23	54581094	Missense_Mutation	SNP	A	TCGA-EL-A3H3-01A-11D-A202-08		54581094	100689466	4	3321											
SLC9A9	285195	broad.mit.edu	37	3	142985759	142985759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr3:142985759C>A	ENST00000316549.6	-	16	1931	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	575					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						ACATCATCCTCTTTTAGCTGT	0.428																																						uc003evn.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1723-1725)Gag>Tag		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.							102	99	100					3																	142985759		2203	4300	6503	SO:0001587	stop_gained	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985759C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1723G>T	3.37:g.142985759C>A	ENSP00000320246:p.Glu575*		Somatic					p.E575*	NM_173653	NP_775924	WXS	Illumina GAIIx	Phase_I	Q8IVB4	SL9A9_HUMAN			15	1932	-			575					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP	ENST00000316549.6	37	c.1723G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718571	0.96839	.	.	ENSG00000181804	ENST00000316549	.	.	.	5.7	5.7	0.88788	.	0.690038	0.14344	N	0.325517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	15.0275	0.71680	0.0:0.9303:0.0:0.0697	.	.	.	.	X	575	.	ENSP00000320246:E575X	E	-	1	0	SLC9A9	144468449	1.000000	0.71417	0.884000	0.34674	0.307000	0.27823	2.757000	0.47557	2.683000	0.91414	0.655000	0.94253	GAG		0.428	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		4	64	0	0	0	1	0	4	64					A	142985759	C	A	142985759	4	1	189	1	0	0	0	0	0	1	0	0	14721	922	32	4	218	4	SLC9A9	3	142985759	Nonsense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		142985759	55036671	1	3322											
ALPK1	80216	broad.mit.edu	37	4	113353377	113353377	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr4:113353377G>A	ENST00000458497.1	+	11	2953	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	ALPK1_ENST00000504176.2_Missense_Mutation_p.V814I|ALPK1_ENST00000177648.9_Missense_Mutation_p.V892I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	892							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAATTCCTCTGTAAGCGGTAA	0.552																																						uc003ian.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2674-2676)Gta>Ata		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							103	101	102					4																	113353377		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353377G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2674G>A	4.37:g.113353377G>A	ENSP00000398048:p.Val892Ile		Somatic				ALPK1_uc003iap.4_Missense_Mutation_p.V892I|ALPK1_uc011cfx.2_Missense_Mutation_p.V814I|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.V720I	p.V892I	NM_001102406	NP_079420	WXS	Illumina GAIIx	Phase_I	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	2901	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	892					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2674G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591173	0.28357	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.31;4.31;4.24	5.17	-2.26	0.06867	.	1.283640	0.05158	N	0.497258	T	0.03477	0.0100	M	0.64997	1.995	0.09310	N	1	B;B;B	0.26318	0.053;0.146;0.031	B;B;B	0.22152	0.022;0.038;0.014	T	0.45086	-0.9285	10	0.37606	T	0.19	0.6981	1.5291	0.02532	0.1492:0.2799:0.2221:0.3488	.	814;814;892	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	I	892;892;814	ENSP00000398048:V892I;ENSP00000177648:V892I;ENSP00000426044:V814I	ENSP00000177648:V892I	V	+	1	0	ALPK1	113572826	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.068000	0.14531	-0.338000	0.08413	0.655000	0.94253	GTA		0.552	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		6	102	0	0	0	1	0	6	102					A	113353377	G	A	113353377	3	1	189	1	0	0	0	0	1	0	0	0	544	1377	48	2	2708	2	ALPK1	4	113353377	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		113353377	77800899	2	3323											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	35	0	0	0	1	0	37	35					T	140453136	A	T	140453136	3	4	189	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		140453136	18685527	3	3324											
KIAA1429	25962	broad.mit.edu	37	8	95508670	95508670	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:95508670C>A	ENST00000297591.5	-	18	4344	c.4269G>T	c.(4267-4269)gaG>gaT	p.E1423D	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1423					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TATGAGCTCCCTCTACTTCCA	0.383																																						uc003ygo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4267-4269)gaG>gaT		Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.							182	156	165					8																	95508670		2203	4300	6503	SO:0001583	missense	25962				RNA splicing|mRNA processing	nucleus		g.chr8:95508670C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4269G>T	8.37:g.95508670C>A	ENSP00000297591:p.Glu1423Asp		Somatic				KIAA1429_uc010maz.2_Non-coding_Transcript	p.E1423D	NM_015496	NP_056311	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		17	4340	-	Breast(36;3.29e-05)		1423					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4269G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549966	0.27652	.	.	ENSG00000164944	ENST00000297591	T	0.46063	0.88	5.52	3.52	0.40303	.	0.512836	0.22268	N	0.062303	T	0.10508	0.0257	N	0.00170	-1.935	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.14252	T	0.57	-5.0683	12.0164	0.53317	0.5815:0.4185:0.0:0.0	.	1423	Q69YN4	VIR_HUMAN	D	1423	ENSP00000297591:E1423D	ENSP00000297591:E1423D	E	-	3	2	KIAA1429	95577846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.795000	0.38784	1.307000	0.44944	0.650000	0.86243	GAG		0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		3	64	0	0	0	1	0	3	64					A	95508670	C	A	95508670	3	1	189	1	0	0	0	0	1	0	0	0	8231	680	24	4	1197	4	KIAA1429	8	95508670	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		95508670	50855352	4	3325											
FAM135B	51059	broad.mit.edu	37	8	139164287	139164287	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:139164287A>G	ENST00000395297.1	-	13	2601	c.2431T>C	c.(2431-2433)Tct>Cct	p.S811P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	811										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGAGCAAGATCCTGGGGAA	0.532										HNSCC(54;0.14)																												uc003yuy.3																			0		p.S811S(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2431-2433)Tct>Cct		Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.							68	65	66					8																	139164287		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164287A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2431T>C	8.37:g.139164287A>G	ENSP00000378710:p.Ser811Pro	HNSCC(54;0.14)	Somatic				FAM135B_uc003yux.3_Missense_Mutation_p.S712P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S373P|FAM135B_uc003yvb.3_Missense_Mutation_p.S373P	p.S811P	NM_015912	NP_056996	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	2602	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		811					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2431T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	9.001	0.980043	0.18812	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.39	-1.9	0.07665	.	1.820710	0.02202	N	0.062342	T	0.06050	0.0157	N	0.02539	-0.55	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	0.23440	-1.0188	10	0.28530	T	0.3	0.6741	1.2603	0.02000	0.2481:0.2051:0.3848:0.162	.	811;811;811	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	P	811	ENSP00000378710:S811P	ENSP00000276737:S811P	S	-	1	0	FAM135B	139233469	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.241000	0.08940	-0.045000	0.13468	-0.132000	0.14878	TCT		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	56	0	0	0	1	0	4	56					G	139164287	A	G	139164287	3	3	189	1	0	0	0	0	1	0	0	0	5449	333	12	3	1821	3	FAM135B	8	139164287	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08	43655617	139164287	7199735	5	3326											
CYLC2	1539	broad.mit.edu	37	9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	rs188765977		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:105767017C>A	ENST00000374798.3	+	4	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													C|||	1	0.000199681	0	0	5008	,	,		15253	0		0.001	False		,,,				2504	0					uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(220-222)cCa>cAa		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							85	81	83					9																	105767017		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767017C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.221C>A	9.37:g.105767017C>A	ENSP00000420256:p.Pro74Gln		Somatic					p.P74Q	NM_001340	NP_001331	WXS	Illumina GAIIx	Phase_I	Q14093	CYLC2_HUMAN			3	291	+		all_hematologic(171;0.125)	74			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.221C>A	CCDS35085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.71	3.197866	0.58126	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.23552	1.9;1.9	4.53	4.53	0.55603	.	0.000000	0.42964	D	0.000636	T	0.48466	0.1501	M	0.71581	2.175	0.34192	D	0.672217	D	0.89917	1.0	D	0.80764	0.994	T	0.62784	-0.6781	10	0.66056	D	0.02	-21.7515	12.9751	0.58532	0.0:1.0:0.0:0.0	.	74	Q14093	CYLC2_HUMAN	Q	74	ENSP00000420256:P74Q;ENSP00000417674:P74Q	ENSP00000420256:P74Q	P	+	2	0	CYLC2	104806838	0.767000	0.28508	0.953000	0.39169	0.664000	0.39144	3.221000	0.51215	2.511000	0.84671	0.591000	0.81541	CCA		0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		14	26	0	0	0	1	0	14	26					A	105767017	C	A	105767017	3	1	189	1	0	0	0	0	1	0	0	0	4142	594	21	4	235	4	CYLC2	9	105767017	Missense_Mutation	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		105767017	35446414	6	3327											
OR1N2	138882	broad.mit.edu	37	9	125316420	125316420	+	Silent	SNP	T	T	C			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:125316420T>C	ENST00000373688.2	+	1	1030	c.972T>C	c.(970-972)agT>agC	p.S324S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTTGTCAGTGGAAAAACAT	0.393																																						uc011lyx.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(970-972)agT>agC		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							88	89	89					9																	125316420		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316420T>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.972T>C	9.37:g.125316420T>C			Somatic					p.S324S	NM_001004457	NP_001004457	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			0	972	+			324					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.972T>C	CCDS35123.1																																																																																				0.393	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			12	44	0	0	0	1	0	12	44					C	125316420	T	C	125316420	2	2	189	1	0	0	0	0	0	0	0	1	10970	1693	59	3		3	OR1N2	9	125316420	Silent	SNP	T	TCGA-EL-A3H4-01A-11D-A202-08	19549403	125316420	15897011	7	3328											
ABCC2	1244	broad.mit.edu	37	10	101596001	101596001	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr10:101596001A>T	ENST00000370449.4	+	25	3681	c.3568A>T	c.(3568-3570)Att>Ttt	p.I1190F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1190	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGAGGTGAGGATTGACACCAA	0.483																																						uc001kqf.2																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3568-3570)Att>Ttt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						127	113	118					10																	101596001		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101596001A>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3568A>T	10.37:g.101596001A>T	ENSP00000359478:p.Ile1190Phe		Somatic					p.I1190F	NM_000392	NP_000383	WXS	Illumina GAIIx	Phase_I	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	24	3707	+		Colorectal(252;0.234)	1190			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3568A>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957627	0.34565	.	.	ENSG00000023839	ENST00000370449	D	0.90069	-2.61	5.48	4.21	0.49690	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.137202	0.64402	D	0.000005	D	0.93602	0.7957	M	0.88775	2.98	0.80722	D	1	P	0.45827	0.867	P	0.57720	0.826	D	0.93246	0.6630	10	0.87932	D	0	-3.9213	9.4128	0.38503	0.8441:0.0:0.1559:0.0	.	1190	Q92887	MRP2_HUMAN	F	1190	ENSP00000359478:I1190F	ENSP00000359478:I1190F	I	+	1	0	ABCC2	101585991	0.847000	0.29606	0.105000	0.21289	0.368000	0.29767	2.446000	0.44908	0.900000	0.36469	0.260000	0.18958	ATT		0.483	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		11	64	0	0	0	1	0	11	64					T	101596001	A	T	101596001	3	4	189	1	0	0	0	0	1	0	0	0	53	333	12	5	3666	5	ABCC2	10	101596001	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		101596001	33938746	8	3329											
ZBTB39	9880	broad.mit.edu	37	12	57398352	57398352	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:57398352G>A	ENST00000300101.2	-	2	435	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	117					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)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGAGTGACAGGCCTGGAGGAG	0.557																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(349-351)gCc>gTc		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							77	70	72					12																	57398352		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398352G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.350C>T	12.37:g.57398352G>A	ENSP00000300101:p.Ala117Val		Somatic				ZBTB39_uc021qzg.1_Missense_Mutation_p.A117V	p.A117V	NM_014830	NP_055645	WXS	Illumina GAIIx	Phase_I	O15060	ZBT39_HUMAN			1	503	-			117					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.350C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339651	0.41398	.	.	ENSG00000166860	ENST00000300101	T	0.68624	-0.34	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.25890	0.77	0.58432	D	0.999998	D	0.63046	0.992	D	0.65874	0.939	T	0.69304	-0.5180	10	0.35671	T	0.21	-21.3566	17.8376	0.88704	0.0:0.0:1.0:0.0	.	117	O15060	ZBT39_HUMAN	V	117	ENSP00000300101:A117V	ENSP00000300101:A117V	A	-	2	0	ZBTB39	55684619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.354000	0.73036	2.815000	0.96918	0.561000	0.74099	GCC		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		13	56	0	0	0	1	0	13	56					A	57398352	G	A	57398352	3	1	189	1	0	0	0	0	1	0	0	0	17537	1203	42	2	1792	2	ZBTB39	12	57398352	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		57398352	76453543	9	3330											
RNF34	80196	broad.mit.edu	37	12	121855480	121855480	+	Silent	SNP	C	C	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:121855480C>T	ENST00000392464.2	+	3	468	c.399C>T	c.(397-399)ccC>ccT	p.P133P	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000361234.5_Silent_p.P133P|RNF34_ENST00000392465.3_Silent_p.P134P					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GAAATATACCCATAGATACTT	0.453																																						uc001uak.1																			0				breast(1)|large_intestine(1)	2						c.(400-402)ccC>ccT		Homo sapiens ring finger protein 34 (RNF34), transcript variant 1, mRNA.							127	120	123					12																	121855480		2203	4300	6503	SO:0001819	synonymous_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855480C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"RING-type (C3HC4) zinc fingers"	17297	protein-coding gene	gene with protein product		608299	"ring finger protein 34"			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.399C>T	12.37:g.121855480C>T			Somatic				RNF34_uc010szw.2_Silent_p.P134P|RNF34_uc001ual.1_Silent_p.P133P	p.P134P	NM_194271	NP_919247	WXS	Illumina GAIIx	Phase_I	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	579	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		133			SAP 1.			Silent	SNP	ENST00000392464.2	37	c.402C>T																																																																																					0.453	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		4	71	0	0	0	1	0	4	71					T	121855480	C	T	121855480	2	4	189	1	0	0	0	0	0	0	0	1	13489	581	21	2		2	RNF34	12	121855480	Silent	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08	64457128	121855480	11996415	10	3331											
THSD1	55901	broad.mit.edu	37	13	52952229	52952229	+	Missense_Mutation	SNP	G	G	A	rs144799411		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr13:52952229G>A	ENST00000258613.4	-	5	2054	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	THSD1_ENST00000544466.1_Missense_Mutation_p.R247C|THSD1_ENST00000349258.4_Missense_Mutation_p.R573C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	626					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)		TGTGACTTGCGGATCAGAGTC	0.622													G|||	1	0.000199681	0	0	5008	,	,		15632	0		0.001	False		,,,				2504	0					uc001vgo.3																			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.(1876-1878)Cgc>Tgc		Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.							48	47	48					13																	52952229		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952229G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1876C>T	13.37:g.52952229G>A	ENSP00000258613:p.Arg626Cys		Somatic				THSD1_uc001vgp.3_Missense_Mutation_p.R573C|THSD1_uc010tgz.2_Missense_Mutation_p.R247C	p.R626C	NM_018676	NP_061146	WXS	Illumina GAIIx	Phase_I	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2421	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	626					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1876C>T	CCDS9432.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.01	3.000795	0.54254	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.33865	2.12;1.39;2.3	5.34	5.34	0.76211	.	0.346182	0.29653	N	0.011544	T	0.52933	0.1765	M	0.62723	1.935	0.45580	D	0.998525	D;D	0.89917	0.999;1.0	P;P	0.60415	0.809;0.874	T	0.55579	-0.8119	10	0.87932	D	0	-22.7323	13.701	0.62608	0.0:0.0:0.8358:0.1642	.	573;626	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	573;247;626	ENSP00000340650:R573C;ENSP00000438512:R247C;ENSP00000258613:R626C	ENSP00000258613:R626C	R	-	1	0	THSD1	51850230	0.994000	0.37717	0.939000	0.37840	0.535000	0.34838	2.712000	0.47186	2.508000	0.84585	0.552000	0.68991	CGC		0.622	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			5	60	0	0	0	1	0	5	60					A	52952229	G	A	52952229	3	1	189	1	0	0	0	0	1	0	0	0	15874	1116	39	1	686	1	THSD1	13	52952229	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		52952229	62217649	11	3332											
OR6S1	341799	broad.mit.edu	37	14	21108936	21108936	+	Silent	SNP	C	C	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr14:21108936C>T	ENST00000320704.3	-	1	914	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAAACATGTCCTTCAAAGCTT	0.398																																						uc001vxv.1																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(913-915)aaG>aaA		Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.							187	177	180					14																	21108936		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108936C>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.915G>A	14.37:g.21108936C>T			Somatic					p.K305K	NM_001001968	NP_001001968	WXS	Illumina GAIIx	Phase_I	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	0	915	-	all_cancers(95;0.00304)		305					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.915G>A	CCDS32038.1																																																																																				0.398	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			4	129	0	0	0	1	0	4	129					T	21108936	C	T	21108936	2	4	189	1	0	0	0	0	0	0	0	1	11209	680	24	2		2	OR6S1	14	21108936	Silent	SNP	C	TCGA-EL-A3H4-01A-11D-A202-08		21108936	86240604	12	3333											
TMEM85	51234	broad.mit.edu	37	15	34520681	34520681	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr15:34520681A>G	ENST00000267750.4	+	4	523	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	136					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGTTTGGTCTATCTCATTGGG	0.443																																						uc001zhq.3																			0		p.Y136Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(406-408)tAt>tGt		Homo sapiens transmembrane protein 85 (TMEM85), mRNA.							206	189	195					15																	34520681		2201	4298	6499	SO:0001583	missense	51234				apoptosis	integral to membrane		g.chr15:34520681A>G	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"transmembrane protein 85"	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.407A>G	15.37:g.34520681A>G	ENSP00000267750:p.Tyr136Cys		Somatic				TMEM85_uc001zhs.3_Intron	p.Y136C	NM_016454	NP_057538	WXS	Illumina GAIIx	Phase_I	Q5J8M3	TMM85_HUMAN		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)	3	478	+		all_lung(180;1.15e-06)	136					A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	c.407A>G	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932092	0.73442	.	.	ENSG00000128463	ENST00000267750	T	0.62105	0.05	5.99	4.85	0.62838	.	0.055802	0.85682	D	0.000000	T	0.79179	0.4402	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81371	-0.0963	10	0.87932	D	0	-7.388	11.7221	0.51688	0.8674:0.0:0.0:0.1326	.	136	Q5J8M3	TMM85_HUMAN	C	136	ENSP00000267750:Y136C	ENSP00000267750:Y136C	Y	+	2	0	TMEM85	32307973	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	6.437000	0.73421	1.076000	0.40961	0.449000	0.29647	TAT		0.443	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		32	107	0	0	0	1	0	32	107					G	34520681	A	G	34520681	3	3	189	1	0	0	0	0	1	0	0	0	16204	449	16	3	421	3	TMEM85	15	34520681	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		34520681	68010711	13	3334											
VAC14	55697	broad.mit.edu	37	16	70815792	70815792	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr16:70815792G>A	ENST00000261776.5	-	8	1186	c.926C>T	c.(925-927)gCc>gTc	p.A309V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	309					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTCATCGTAGGCCAAGCAGGG	0.562																																						uc002ezm.3																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(925-927)gCc>gTc		Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.							56	54	55					16																	70815792		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815792G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.926C>T	16.37:g.70815792G>A	ENSP00000261776:p.Ala309Val		Somatic				VAC14_uc010cfw.3_Missense_Mutation_p.A75V|VAC14_uc002ezn.3_Intron|TRNA_Gly_uc021tkn.1_5'Flank	p.A309V	NM_018052	NP_060522	WXS	Illumina GAIIx	Phase_I	Q08AM6	VAC14_HUMAN			7	1184	-		Ovarian(137;0.0699)	309					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.926C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330100	0.95733	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.050648	0.85682	D	0.000000	T	0.60392	0.2265	L	0.55481	1.735	0.80722	D	1	B	0.27013	0.166	B	0.31390	0.129	T	0.56153	-0.8026	9	0.12430	T	0.62	-24.4398	19.5375	0.95260	0.0:0.0:1.0:0.0	.	309	Q08AM6	VAC14_HUMAN	V	309	.	ENSP00000261776:A309V	A	-	2	0	VAC14	69373293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.452000	0.97615	2.620000	0.88729	0.655000	0.94253	GCC		0.562	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		3	69	0	0	0	1	0	3	69					A	70815792	G	A	70815792	3	1	189	1	0	0	0	0	1	0	0	0	17108	1203	42	2	1470	2	VAC14	16	70815792	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		70815792	19538961	14	3335											
MUC16	94025	broad.mit.edu	37	19	9069428	9069428	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr19:9069428G>T	ENST00000397910.4	-	3	18221	c.18018C>A	c.(18016-18018)caC>caA	p.H6006Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6008	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						TCTCTGAAAAGTGAATTGTCT	0.458																																						uc002mkp.3																			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.(18016-18018)caC>caA		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							207	206	207					19																	9069428		1925	4143	6068	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069428G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18018C>A	19.37:g.9069428G>T	ENSP00000381008:p.His6006Gln		Somatic					p.H6006Q	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	18222	-			6008			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18018C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.257	0.415597	0.11870	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	1.36	0.173	0.15036	.	.	.	.	.	T	0.08758	0.0217	N	0.02158	-0.66	.	.	.	B	0.23540	0.087	B	0.14023	0.01	T	0.18681	-1.0329	8	0.87932	D	0	.	5.2389	0.15462	0.0:0.3721:0.6279:0.0	.	6006	B5ME49	.	Q	6006	ENSP00000381008:H6006Q	ENSP00000381008:H6006Q	H	-	3	2	MUC16	8930428	0.000000	0.05858	0.007000	0.13788	0.530000	0.34684	-1.104000	0.03326	0.125000	0.18397	0.281000	0.19383	CAC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	153	0	0	0	1	0	24	153					T	9069428	G	T	9069428	3	4	189	1	0	0	0	0	1	0	0	0	9973	1020	36	4	25833	4	MUC16	19	9069428	Missense_Mutation	SNP	G	TCGA-EL-A3H4-01A-11D-A202-08		9069428	50059555	15	3336											
SLC6A8	6535	broad.mit.edu	37	X	152956776	152956776	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chrX:152956776A>G	ENST00000253122.5	+	3	888	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	SLC6A8_ENST00000430077.2_Missense_Mutation_p.M23V	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	138					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CTACGCCTCCATGGTGATCGT	0.607																																						uc004fib.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(412-414)Atg>Gtg		Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	Creatine(DB00148)						42	35	37					X																	152956776		2195	4291	6486	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152956776A>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.412A>G	X.37:g.152956776A>G	ENSP00000253122:p.Met138Val		Somatic				SLC6A8_uc004fic.3_Missense_Mutation_p.M138V|SLC6A8_uc011myx.1_Missense_Mutation_p.M23V|SLC6A8_uc010nuj.2_5'Flank|SLC6A8_uc010nui.1_Missense_Mutation_p.M23V	p.M138V	NM_005629	NP_001136278	WXS	Illumina GAIIx	Phase_I	P48029	SC6A8_HUMAN			2	690	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.412A>G	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	a	3.609	-0.079894	0.07141	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.71461	-0.57;-0.57	3.76	3.76	0.43208	.	.	.	.	.	T	0.40196	0.1107	N	0.04132	-0.27	0.35408	D	0.792215	B;B;B	0.11235	0.003;0.004;0.002	B;B;B	0.18263	0.01;0.01;0.021	T	0.42666	-0.9438	9	0.02654	T	1	.	6.1864	0.20500	0.8788:0.0:0.1212:0.0	.	138;157;138	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	V	138;23	ENSP00000253122:M138V;ENSP00000403041:M23V	ENSP00000253122:M138V	M	+	1	0	SLC6A8	152609970	0.881000	0.30235	1.000000	0.80357	0.952000	0.60782	1.393000	0.34497	1.390000	0.46547	0.356000	0.21956	ATG		0.607	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			9	10	0	0	0	1	0	9	10					G	152956776	A	G	152956776	3	3	189	1	0	0	0	0	1	0	0	0	14690	217	8	3	422	3	SLC6A8	23	152956776	Missense_Mutation	SNP	A	TCGA-EL-A3H4-01A-11D-A202-08		152956776	2313784	16	3337											
MAP3K6	9064	broad.mit.edu	37	1	27685202	27685202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:27685202G>A	ENST00000493901.1	-	20	2820	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.Q861*|MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.Q853*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	861	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTCACCTGAAACATGGCA	0.617																																						uc001bny.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(2581-2583)Cag>Tag		Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.							40	41	40					1																	27685202		2203	4300	6503	SO:0001587	stop_gained	9064				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding	g.chr1:27685202G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2581C>T	1.37:g.27685202G>A	ENSP00000419591:p.Gln861*		Somatic				MAP3K6_uc009vsw.1_Nonsense_Mutation_p.Q853*|MAP3K6_uc001bnz.1_Nonsense_Mutation_p.Q384*	p.Q861*	NM_004672	NP_004663	WXS	Illumina GAIIx	Phase_I	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	18	2830	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	861			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Nonsense_Mutation	SNP	ENST00000493901.1	37	c.2581C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	42	9.303070	0.99130	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.	.	.	5.4	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0132	0.47675	0.0:0.0:0.6576:0.3424	.	.	.	.	X	853;861;584;861	.	ENSP00000350195:Q861X	Q	-	1	0	MAP3K6	27557789	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.472000	0.60189	2.547000	0.85894	0.561000	0.74099	CAG		0.617	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		18	45	0	0	0	1	0	18	45					A	27685202	G	A	27685202	4	1	190	1	0	0	0	0	0	1	0	0	9254	1299	45	2	1329	2	MAP3K6	1	27685202	Nonsense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		27685202	221565419	1	3338											
ZNHIT6	54680	broad.mit.edu	37	1	86171801	86171801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:86171801delG	ENST00000370574.3	-	4	1008	c.875delC	c.(874-876)tctfs	p.S292fs	ZNHIT6_ENST00000431532.2_Frame_Shift_Del_p.S253fs			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	292					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						AGCATCTCTAGAAATATGGTC	0.313																																						uc001dlh.3																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(874-876)tctfs		Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.							58	58	58					1																	86171801		2199	4298	6497	SO:0001589	frameshift_variant	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86171801delG	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.875delC	1.37:g.86171801delG	ENSP00000359606:p.Ser292fs		Somatic				ZNHIT6_uc010osc.2_Frame_Shift_Del_p.S253fs	p.S292fs	NM_017953	NP_060423	WXS	Illumina GAIIx	Phase_I	Q9NWK9	BCD1_HUMAN			3	1024	-			292					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Frame_Shift_Del	DEL	ENST00000370574.3	37	c.875delC	CCDS707.1																																																																																				0.313	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		23	37						23	37	---	---	---	---	-	86171801	G	-	86171801	7	5	190	1	0	1	0	1	0	0	0	0	18206	942	33	0	565	0	ZNHIT6	1	86171801	Frame_Shift_Del	DEL	G	TCGA-EL-A3H5-01A-11D-A202-08	58486599	86171801	163078820	2	3339											
ASPM	259266	broad.mit.edu	37	1	197060037	197060037	+	Silent	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:197060037G>A	ENST00000367409.4	-	23	9835	c.9579C>T	c.(9577-9579)cgC>cgT	p.R3193R	ASPM_ENST00000367408.1_Silent_p.R858R|ASPM_ENST00000294732.7_Silent_p.R1608R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3193	IQ 38. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						GGAGAAAATGGCGCACTGCTT	0.353																																						uc001gtu.3																			0		p.R3193C(1)|p.R3193L(1)		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.(9577-9579)cgC>cgT		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							111	108	109					1																	197060037		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060037G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9579C>T	1.37:g.197060037G>A			Somatic				ASPM_uc001gtv.3_Silent_p.R1608R|ASPM_uc001gtw.4_Silent_p.R1041R	p.R3193R	NM_018136	NP_060606	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			22	9836	-			3193			IQ 38.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9579C>T	CCDS1389.1																																																																																				0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		15	86	0	0	0	1	0	15	86					A	197060037	G	A	197060037	2	1	190	1	0	0	0	0	0	0	0	1	1056	1190	42	2		2	ASPM	1	197060037	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	110888236	197060037	52190584	3	3340											
HHAT	55733	broad.mit.edu	37	1	210591549	210591549	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:210591549C>T	ENST00000367010.1	+	7	963	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	HHAT_ENST00000391905.3_Silent_p.L246L|HHAT_ENST00000545154.1_Silent_p.L247L|HHAT_ENST00000541565.1_Silent_p.L109L|HHAT_ENST00000308852.6_Silent_p.L201L|HHAT_ENST00000545781.1_Silent_p.L183L|HHAT_ENST00000413764.2_Silent_p.L246L|HHAT_ENST00000537898.1_Silent_p.L181L|HHAT_ENST00000261458.3_Silent_p.L246L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	246					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)		TGTCCTGGCCCTGGGGCTGGG	0.567																																						uc010psr.2																			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.(739-741)Ctg>Ttg		Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.							130	122	125					1																	210591549		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210591549C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.736C>T	1.37:g.210591549C>T			Somatic				HHAT_uc009xcx.3_Silent_p.L246L|HHAT_uc010psq.2_Silent_p.L109L|HHAT_uc009xcy.3_Silent_p.L181L|HHAT_uc010pss.2_Silent_p.L201L|HHAT_uc010pst.2_Silent_p.L183L|HHAT_uc001hhz.4_Silent_p.L246L|HHAT_uc021pip.1_Silent_p.L246L|HHAT_uc010psu.2_Silent_p.L181L	p.L247L	NM_001170587	NP_001164058	WXS	Illumina GAIIx	Phase_I	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	5	844	+			246					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.739C>T	CCDS1495.1																																																																																				0.567	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		50	165	0	0	0	1	0	50	165					T	210591549	C	T	210591549	2	4	190	1	0	0	0	0	0	0	0	1	7089	680	24	2		2	HHAT	1	210591549	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	13531512	210591549	38659072	4	3341											
ZXDC	79364	broad.mit.edu	37	3	126189759	126189759	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:126189759G>A	ENST00000389709.3	-	4	1302	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	ZXDC_ENST00000336332.5_Missense_Mutation_p.P417S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	417					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACTCGAACGGCTTTGTGCCT	0.463																																						uc003eiv.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1249-1251)Ccg>Tcg		Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.							115	123	120					3																	126189759		2198	4300	6498	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126189759G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1249C>T	3.37:g.126189759G>A	ENSP00000374359:p.Pro417Ser		Somatic				ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.P417S	p.P417S	NM_025112	NP_079388	WXS	Illumina GAIIx	Phase_I	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	3	1303	-			417					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1249C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643899	0.67244	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.55930	0.49;0.49	4.61	4.61	0.57282	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68957	-0.5272	10	0.87932	D	0	-16.4777	15.2783	0.73760	0.0:0.0:1.0:0.0	.	417;417	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	S	417	ENSP00000374359:P417S;ENSP00000337694:P417S	ENSP00000337694:P417S	P	-	1	0	ZXDC	127672449	1.000000	0.71417	0.990000	0.47175	0.358000	0.29455	9.848000	0.99507	2.268000	0.75426	0.484000	0.47621	CCG		0.463	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		33	89	0	0	0	1	0	33	89					A	126189759	G	A	126189759	3	1	190	1	0	0	0	0	1	0	0	0	18249	1203	42	2	1361	2	ZXDC	3	126189759	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		126189759	71832671	5	3342											
SENP5	205564	broad.mit.edu	37	3	196612456	196612456	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:196612456A>G	ENST00000323460.5	+	2	653	c.404A>G	c.(403-405)aAt>aGt	p.N135S	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.N135S	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	135					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGAGAGAAAAATCTCTTGAAG	0.443																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.4																			0		p.N135H(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(403-405)aAt>aGt		Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.							51	51	51					3																	196612456		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612456A>G	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.404A>G	3.37:g.196612456A>G	ENSP00000327197:p.Asn135Ser		Somatic				SENP5_uc011bty.2_Missense_Mutation_p.N135S	p.N135S	NM_152699	NP_689912	WXS	Illumina GAIIx	Phase_I	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	1	653	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		135					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.404A>G	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.421382	0.01126	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.20598	2.37;2.06	5.03	0.167	0.15006	.	0.562739	0.18465	N	0.140404	T	0.05502	0.0145	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42949	-0.9421	10	0.02654	T	1	-2.2224	7.8168	0.29265	0.5783:0.0:0.4217:0.0	.	135;135	B4DY82;Q96HI0	.;SENP5_HUMAN	S	135	ENSP00000327197:N135S;ENSP00000390231:N135S	ENSP00000327197:N135S	N	+	2	0	SENP5	198096853	0.746000	0.28272	0.954000	0.39281	0.857000	0.48899	1.021000	0.30040	0.085000	0.17107	-0.242000	0.12053	AAT		0.443	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		21	58	0	0	0	1	0	21	58					G	196612456	A	G	196612456	3	3	190	1	0	0	0	0	1	0	0	0	14049	101	4	3	406	3	SENP5	3	196612456	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	70422697	196612456	1409974	6	3343											
ZNF311	282890	broad.mit.edu	37	6	28963566	28963566	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:28963566G>A	ENST00000377179.3	-	7	1725	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	405					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(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTCTTATGTGTTTGGTGAGG	0.512																																						uc003nlu.2																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1213-1215)Cac>Tac		Homo sapiens zinc finger protein 311 (ZNF311), mRNA.							85	80	82					6																	28963566		1510	2708	4218	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963566G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1213C>T	6.37:g.28963566G>A	ENSP00000366384:p.His405Tyr		Somatic				ZNF311_uc011dlk.1_Missense_Mutation_p.H313Y|ZNF311_uc003nlv.2_Missense_Mutation_p.H313Y	p.H405Y	NM_001010877	NP_001010877	WXS	Illumina GAIIx	Phase_I	Q5JNZ3	ZN311_HUMAN			6	1724	-			405					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1213C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870876	0.72065	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	D	0.86769	-2.17	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94371	0.8190	H	0.95365	3.66	0.35989	D	0.836552	D	0.89917	1.0	D	0.83275	0.996	D	0.95764	0.8803	9	0.87932	D	0	-4.4926	13.4785	0.61322	0.0:0.0:1.0:0.0	.	405	Q5JNZ3	ZN311_HUMAN	Y	405;313	ENSP00000366384:H405Y	ENSP00000366384:H405Y	H	-	1	0	ZNF311	29071545	1.000000	0.71417	0.845000	0.33349	0.843000	0.47879	8.189000	0.89712	1.928000	0.55862	0.585000	0.79938	CAC		0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		12	40	0	0	0	1	0	12	40					A	28963566	G	A	28963566	3	1	190	1	0	0	0	0	1	0	0	0	17831	1377	48	2	791	2	ZNF311	6	28963566	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		28963566	142151501	7	3344											
ZBTB22	9278	broad.mit.edu	37	6	33282984	33282984	+	Silent	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:33282984G>A	ENST00000431845.2	-	2	1861	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.G570G|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	570					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(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGACCCCGCCCAGGCGGT	0.687																																						uc003oeb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1708-1710)ggC>ggT		Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.							25	28	27					6																	33282984		2198	4292	6490	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33282984G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1710C>T	6.37:g.33282984G>A			Somatic				TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Silent_p.G570G|ZBTB22_uc021ywm.1_Silent_p.G570G	p.G570G	NM_005453	NP_005444	WXS	Illumina GAIIx	Phase_I	O15209	ZBT22_HUMAN			1	1862	-			570					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.1710C>T	CCDS4775.1																																																																																				0.687	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			18	62	0	0	0	1	0	18	62					A	33282984	G	A	33282984	2	1	190	1	0	0	0	0	0	0	0	1	17527	1074	38	1		1	ZBTB22	6	33282984	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	4319418	33282984	137832083	8	3345											
POM121L12	285877	broad.mit.edu	37	7	53104067	53104067	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:53104067C>T	ENST00000408890.4	+	1	719	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	235										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGGCCAGGGCCTCTGAAGCC	0.642																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(703-705)Cct>Tct		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							42	50	47					7																	53104067		1960	4135	6095	SO:0001583	missense	285877							g.chr7:53104067C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.703C>T	7.37:g.53104067C>T	ENSP00000386133:p.Pro235Ser		Somatic					p.P235S	NM_182595	NP_872401	WXS	Illumina GAIIx	Phase_I	Q8N7R1	P1L12_HUMAN			0	719	+			235					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.703C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147274	0.06627	.	.	ENSG00000221900	ENST00000408890	T	0.14391	2.51	2.16	1.26	0.21427	.	.	.	.	.	T	0.14013	0.0339	N	0.26042	0.785	0.09310	N	1	D	0.60160	0.987	P	0.57283	0.817	T	0.20739	-1.0266	9	0.18276	T	0.48	.	4.7581	0.13093	0.0:0.8156:0.0:0.1844	.	235	Q8N7R1	P1L12_HUMAN	S	235	ENSP00000386133:P235S	ENSP00000386133:P235S	P	+	1	0	POM121L12	53071561	0.000000	0.05858	0.064000	0.19789	0.352000	0.29268	0.119000	0.15626	0.488000	0.27723	-0.258000	0.10820	CCT		0.642	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		19	69	0	0	0	1	0	19	69					T	53104067	C	T	53104067	3	4	190	1	0	0	0	0	1	0	0	0	12241	739	26	2	705	2	POM121L12	7	53104067	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		53104067	106034596	9	3346											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	65	0	0	0	1	0	25	65					T	140453136	A	T	140453136	3	4	190	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	87349069	140453136	18685527	10	3347											
LONRF1	91694	broad.mit.edu	37	8	12580704	12580704	+	Silent	SNP	T	T	C			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr8:12580704T>C	ENST00000398246.3	-	12	2292	c.2223A>G	c.(2221-2223)ccA>ccG	p.P741P	LONRF1_ENST00000525024.1_Silent_p.P167P|LONRF1_ENST00000533751.1_Silent_p.P384P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	741	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTGGTATCGTGGGTCTACAG	0.418																																						uc003wwd.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(2221-2223)ccA>ccG		Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.							133	138	136					8																	12580704		1941	4125	6066	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12580704T>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2223A>G	8.37:g.12580704T>C			Somatic				LONRF1_uc011kxv.1_Silent_p.P330P|LONRF1_uc010lsp.1_Silent_p.P341P	p.P741P	NM_152271	NP_689484	WXS	Illumina GAIIx	Phase_I	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	11	2286	-			741			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.2223A>G	CCDS5987.2																																																																																				0.418	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		46	135	0	0	0	1	0	46	135					C	12580704	T	C	12580704	2	2	190	1	0	0	0	0	0	0	0	1	8894	1683	59	3		3	LONRF1	8	12580704	Silent	SNP	T	TCGA-EL-A3H5-01A-11D-A202-08		12580704	133783318	11	3348											
ALDH1B1	219	broad.mit.edu	37	9	38396762	38396762	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr9:38396762C>T	ENST00000377698.3	+	2	1170	c.1017C>T	c.(1015-1017)acC>acT	p.T339T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	339					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TCGAGAGAACCGTGGAGAAAG	0.557																																						uc004aay.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1015-1017)acC>acT		Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						49	55	53					9																	38396762		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396762C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1017C>T	9.37:g.38396762C>T			Somatic				ALDH1B1_uc022bgy.1_Silent_p.T339T	p.T339T	NM_000692	NP_000683	WXS	Illumina GAIIx	Phase_I	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	1	1170	+			339					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.1017C>T	CCDS6615.1																																																																																				0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			26	42	0	0	0	1	0	26	42					T	38396762	C	T	38396762	2	4	190	1	0	0	0	0	0	0	0	1	493	639	23	1		1	ALDH1B1	9	38396762	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		38396762	102816669	12	3349											
C11orf87	399947	broad.mit.edu	37	11	109294460	109294460	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr11:109294460G>T	ENST00000327419.6	+	2	504	c.101G>T	c.(100-102)gGt>gTt	p.G34V	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	34						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGCAACACGGGTGCCCGCGGC	0.672																																						uc010rwb.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(100-102)gGt>gTt		Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.							55	49	51					11																	109294460		2197	4297	6494	SO:0001583	missense	399947					integral to membrane		g.chr11:109294460G>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.101G>T	11.37:g.109294460G>T	ENSP00000331581:p.Gly34Val		Somatic				C11orf87_uc021qqf.1_Missense_Mutation_p.G34V	p.G34V	NM_207645	NP_997528	WXS	Illumina GAIIx	Phase_I	Q6NUJ2	CK087_HUMAN			1	504	+			34					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.101G>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291968	0.23564	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.66	2.75	0.32379	.	0.944717	0.08631	U	0.917077	T	0.26882	0.0658	N	0.14661	0.345	0.09310	N	0.999991	B	0.12630	0.006	B	0.11329	0.006	T	0.23048	-1.0199	9	0.66056	D	0.02	.	7.1432	0.25568	0.1269:0.0:0.8731:0.0	.	34	Q6NUJ2	CK087_HUMAN	V	34	.	ENSP00000331581:G34V	G	+	2	0	C11orf87	108799670	.	.	0.003000	0.11579	0.038000	0.13279	.	.	0.907000	0.36646	-0.379000	0.06801	GGT		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		12	32	0	0	0	1	0	12	32					T	109294460	G	T	109294460	3	4	190	1	0	0	0	0	1	0	0	0	1669	1261	44	4	103	4	C11orf87	11	109294460	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		109294460	25712056	13	3350											
BRCA2	675	broad.mit.edu	37	13	32937551	32937551	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr13:32937551G>T	ENST00000380152.3	+	18	8445	c.8212G>T	c.(8212-8214)Gct>Tct	p.A2738S	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2738S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2738					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)		TCCCCTCTTAGCTGTCTTAAA	0.458			"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)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		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.(8212-8214)Gct>Tct	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							129	123	125					13																	32937551		2203	4300	6503	SO:0001583	missense	675	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	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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	g.chr13:32937551G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8212G>T	13.37:g.32937551G>T	ENSP00000369497:p.Ala2738Ser	TCGA Ovarian(8;0.087)	Somatic					p.A2738S	NM_000059	NP_000050	WXS	Illumina GAIIx	Phase_I	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)	17	8439	+		Lung SC(185;0.0262)	2738					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8212G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505659	0.44558	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80214	-1.35;-1.35	5.49	4.64	0.57946	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.236160	0.42294	D	0.000723	T	0.77678	0.4166	L	0.48218	1.51	0.39658	D	0.970577	P	0.35821	0.523	B	0.43018	0.405	T	0.76233	-0.3034	10	0.38643	T	0.18	.	9.7781	0.40632	0.0727:0.0:0.7872:0.14	.	2738	P51587	BRCA2_HUMAN	S	2738	ENSP00000369497:A2738S;ENSP00000439902:A2738S	ENSP00000369497:A2738S	A	+	1	0	BRCA2	31835551	0.994000	0.37717	0.013000	0.15412	0.896000	0.52359	4.327000	0.59247	1.321000	0.45227	0.313000	0.20887	GCT		0.458	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		27	80	0	0	0	1	0	27	80					T	32937551	G	T	32937551	3	4	190	1	0	0	0	0	1	0	0	0	1499	971	34	4	8278	4	BRCA2	13	32937551	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		32937551	82232327	14	3351											
NYNRIN	57523	broad.mit.edu	37	14	24877450	24877450	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr14:24877450C>T	ENST00000382554.3	+	3	892	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	192					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCTGAGCCTGGTGCGGGA	0.652																																						uc001wpf.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(574-576)Ctg>Ttg		Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.							19	25	23					14																	24877450		2078	4207	6285	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877450C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.574C>T	14.37:g.24877450C>T			Somatic					p.L192L	NM_025081	NP_079357	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			2	892	+			192					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.574C>T	CCDS45090.1																																																																																				0.652	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			6	15	0	0	0	1	0	6	15					T	24877450	C	T	24877450	2	4	190	1	0	0	0	0	0	0	0	1	10796	680	24	2		2	NYNRIN	14	24877450	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		24877450	82472090	15	3352											
STOML1	9399	broad.mit.edu	37	15	74282792	74282792	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74282792G>A	ENST00000316900.5	-	2	264	c.140C>T	c.(139-141)cCc>cTc	p.P47L	STOML1_ENST00000561656.1_5'UTR|STOML1_ENST00000359750.4_Missense_Mutation_p.P47L|STOML1_ENST00000541638.1_Missense_Mutation_p.P5L|STOML1_ENST00000316911.6_Missense_Mutation_p.P47L|STOML1_ENST00000564777.1_Missense_Mutation_p.P47L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	47						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCAGCTCTGGGGTACATCTGC	0.582																																						uc002awe.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(139-141)cCc>cTc		Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.							67	62	64					15																	74282792		2197	4296	6493	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74282792G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.140C>T	15.37:g.74282792G>A	ENSP00000319323:p.Pro47Leu		Somatic				STOML1_uc002awf.3_Missense_Mutation_p.P47L|STOML1_uc010bje.3_Missense_Mutation_p.P47L|STOML1_uc010uld.2_Missense_Mutation_p.P5L|STOML1_uc002awh.3_Missense_Mutation_p.P47L|STOML1_uc002awg.3_Missense_Mutation_p.P47L	p.P47L	NM_004809	NP_004800	WXS	Illumina GAIIx	Phase_I	Q9UBI4	STML1_HUMAN			1	211	-			47					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.140C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641379	0.47153	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.97138	-2.96;-2.59;-3.02;-4.26	5.01	4.03	0.46877	.	0.728052	0.12862	N	0.433019	D	0.94291	0.8166	N	0.24115	0.695	0.43673	D	0.9961	P;P;P;P;P;P	0.46142	0.799;0.842;0.873;0.842;0.651;0.651	B;B;P;B;B;B	0.44990	0.343;0.236;0.466;0.236;0.165;0.165	D	0.93515	0.6856	10	0.66056	D	0.02	-7.1209	12.548	0.56212	0.0:0.1691:0.8309:0.0	.	5;47;47;47;47;47	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	L	47;47;5;47	ENSP00000319323:P47L;ENSP00000319384:P47L;ENSP00000442478:P5L;ENSP00000352788:P47L	ENSP00000319323:P47L	P	-	2	0	STOML1	72069845	1.000000	0.71417	0.528000	0.27938	0.599000	0.36880	6.317000	0.72862	2.338000	0.79540	0.555000	0.69702	CCC		0.582	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		3	25	0	0	0	1	0	3	25					A	74282792	G	A	74282792	3	1	190	1	0	0	0	0	1	0	0	0	15312	1232	43	2	1080	2	STOML1	15	74282792	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08		74282792	28248600	16	3353											
ARID3B	10620	broad.mit.edu	37	15	74883967	74883967	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74883967G>A	ENST00000346246.5	+	7	1463	c.1232G>A	c.(1231-1233)aGc>aAc	p.S411N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	411						nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCTTGGCAAGCCAGCAGGCT	0.617																																						uc002aye.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1231-1233)aGc>aAc		Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.							15	18	17					15																	74883967		2195	4294	6489	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883967G>A		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1232G>A	15.37:g.74883967G>A	ENSP00000343126:p.Ser411Asn		Somatic				ARID3B_uc002ayd.3_Missense_Mutation_p.S411N|ARID3B_uc010bjs.1_Missense_Mutation_p.S116N	p.S411N	NM_006465	NP_006456	WXS	Illumina GAIIx	Phase_I	Q8IVW6	ARI3B_HUMAN			6	1433	+			411					O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1232G>A	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503219	0.12822	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.50001	0.76	5.31	3.38	0.38709	.	0.685163	0.14864	N	0.293890	T	0.36552	0.0971	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23440	-1.0188	10	0.34782	T	0.22	-3.3785	8.115	0.30937	0.2043:0.1193:0.6764:0.0	.	411;411;411	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	N	411	ENSP00000343126:S411N	ENSP00000343126:S411N	S	+	2	0	ARID3B	72671020	0.051000	0.20477	0.386000	0.26170	0.231000	0.25187	1.484000	0.35508	0.228000	0.21019	-0.797000	0.03246	AGC		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		8	7	0	0	0	1	0	8	7					A	74883967	G	A	74883967	3	1	190	1	0	0	0	0	1	0	0	0	917	971	34	2	1254	2	ARID3B	15	74883967	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	601175	74883967	27647425	17	3354											
MESDC2	23184	broad.mit.edu	37	15	81282072	81282072	+	Silent	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:81282072G>A	ENST00000261758.4	-	1	147	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	21	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						agcagcagcagcagcagGTCA	0.682																																						uc002bfy.1																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(61-63)Ctg>Ttg		Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.							25	24	24					15																	81282072		2201	4298	6499	SO:0001819	synonymous_variant	23184				Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum		g.chr15:81282072G>A	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.61C>T	15.37:g.81282072G>A			Somatic				MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	p.L21L	NM_015154	NP_055969	WXS	Illumina GAIIx	Phase_I	Q14696	MESD_HUMAN			0	134	-			21			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	c.61C>T	CCDS32308.1																																																																																				0.682	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		4	18	0	0	0	1	0	4	18					A	81282072	G	A	81282072	2	1	190	1	0	0	0	0	0	0	0	1	9481	962	34	2		2	MESDC2	15	81282072	Silent	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	6398105	81282072	21249320	18	3355											
KRT36	8689	broad.mit.edu	37	17	39643690	39643690	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:39643690C>T	ENST00000328119.6	-	5	899	c.900G>A	c.(898-900)gaG>gaA	p.E300E	KRT36_ENST00000393986.2_Silent_p.E250E	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	300	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTGCAGCTGCTCCGAGCTGG	0.587																																						uc002hwt.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(898-900)gaG>gaA		Homo sapiens keratin 36 (KRT36), mRNA.							71	55	61					17																	39643690		2203	4300	6503	SO:0001819	synonymous_variant	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643690C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.900G>A	17.37:g.39643690C>T			Somatic					p.E300E	NM_003771	NP_003762	WXS	Illumina GAIIx	Phase_I	O76013	KRT36_HUMAN			4	900	-		Breast(137;0.000286)	300			Coil 2.|Rod.		Q86XG4	Silent	SNP	ENST00000328119.6	37	c.900G>A	CCDS11395.1																																																																																				0.587	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		7	34	0	0	0	1	0	7	34					T	39643690	C	T	39643690	2	4	190	1	0	0	0	0	0	0	0	1	8473	796	28	2		2	KRT36	17	39643690	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		39643690	41551520	19	3356											
ABCA6	23460	broad.mit.edu	37	17	67102297	67102297	+	Silent	SNP	C	C	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:67102297C>A	ENST00000284425.2	-	19	2619	c.2445G>T	c.(2443-2445)ctG>ctT	p.L815L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	815					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)					AAGAGTGAGCCAGCTCCATTT	0.413																																						uc002jhw.1																			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.(2443-2445)ctG>ctT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.							114	102	106					17																	67102297		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67102297C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2445G>T	17.37:g.67102297C>A			Somatic					p.L815L	NM_080284	NP_525023	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			18	2620	-	Breast(10;5.65e-12)		815					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.2445G>T	CCDS11683.1																																																																																				0.413	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		17	60	0	0	0	1	0	17	60					A	67102297	C	A	67102297	2	1	190	1	0	0	0	0	0	0	0	1	36	581	21	4		4	ABCA6	17	67102297	Silent	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	27458607	67102297	14092913	20	3357											
SEMA6B	10501	broad.mit.edu	37	19	4552537	4552537	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:4552537C>T	ENST00000586582.1	-	10	1196	c.886G>A	c.(886-888)Gga>Aga	p.G296R	SEMA6B_ENST00000301293.3_Missense_Mutation_p.G296R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.G296R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	296	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGTCTCCGGGTACAGAG	0.652																																						uc010dud.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(886-888)Gga>Aga		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.							29	26	27					19																	4552537		2201	4299	6500	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4552537C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.886G>A	19.37:g.4552537C>T	ENSP00000467290:p.Gly296Arg		Somatic				SEMA6B_uc010xih.1_Missense_Mutation_p.G296R	p.G296R	NM_032108	NP_115484	WXS	Illumina GAIIx	Phase_I	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1148	-		Hepatocellular(1079;0.137)	296			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.886G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.360711	0.82353	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.28666	1.6	4.24	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	U	0.000000	T	0.67031	0.2850	H	0.95780	3.72	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79047	-0.1963	10	0.87932	D	0	.	15.3936	0.74774	0.0:1.0:0.0:0.0	.	296;296	B4DT36;Q9H3T3	.;SEM6B_HUMAN	R	296	ENSP00000301293:G296R	ENSP00000301292:G296R	G	-	1	0	SEMA6B	4503537	1.000000	0.71417	0.715000	0.30552	0.639000	0.38242	7.481000	0.81124	2.208000	0.71279	0.573000	0.79308	GGA		0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		9	25	0	0	0	1	0	9	25					T	4552537	C	T	4552537	3	4	190	1	0	0	0	0	1	0	0	0	14040	661	23	1	1812	1	SEMA6B	19	4552537	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08		4552537	54576446	21	3358											
PRKCSH	5589	broad.mit.edu	37	19	11559445	11559445	+	Splice_Site	SNP	G	G	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:11559445G>T	ENST00000589838.1	+	13	1265		c.e13+1		PRKCSH_ENST00000412601.1_Splice_Site|PRKCSH_ENST00000592741.1_Splice_Site|PRKCSH_ENST00000591462.1_Splice_Site|PRKCSH_ENST00000252455.2_Splice_Site|PRKCSH_ENST00000587327.1_Splice_Site			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H						cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCACCAACGAGTGCGTCCCAG	0.617																																						uc010xlz.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.e14+1		Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.							72	77	75					19																	11559445		2203	4300	6503	SO:0001630	splice_region_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559445G>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1265+1G>T	19.37:g.11559445G>T			Somatic				PRKCSH_uc002mrt.3_Splice_Site_p.E422_splice|PRKCSH_uc002mru.3_Splice_Site_p.E419_splice|PRKCSH_uc010dyb.3_Splice_Site_p.E419_splice	p.E429_splice	NM_002743	NP_002734	WXS	Illumina GAIIx	Phase_I	P14314	GLU2B_HUMAN			14	1622	+			422			PRKCSH.		A8K318|Q96BU9|Q96D06|Q9P0W9	Splice_Site	SNP	ENST00000589838.1	37	c.1286_splice	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.679084	0.68042	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6404	0.85070	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCSH	11420445	1.000000	0.71417	0.953000	0.39169	0.598000	0.36846	8.326000	0.90010	2.217000	0.71921	0.456000	0.33151	.		0.617	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		Intron	24	64	0	0	0	1	0	24	64					T	11559445	G	T	11559445	5	4	190	1	0	0	0	0	0	0	1	0	12516	1043	36	4	1337	4	PRKCSH	19	11559445	Splice_Site	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	7006908	11559445	47569538	22	3359											
NPHS1	4868	broad.mit.edu	37	19	36342241	36342241	+	Missense_Mutation	SNP	G	G	T	rs386833934		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:36342241G>T	ENST00000378910.5	-	3	319	c.320C>A	c.(319-321)gCg>gAg	p.A107E	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.A107E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	107	Ig-like C2-type 1.		A -> T (in NPHS1). {ECO:0000269|PubMed:18614772}.|A -> V (in NPHS1). {ECO:0000269|PubMed:20172850}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATACTCCGCGTCATCGCT	0.642																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(319-321)gCg>gAg		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							30	30	30					19																	36342241		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36342241G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.320C>A	19.37:g.36342241G>T	ENSP00000368190:p.Ala107Glu		Somatic					p.A107E	NM_004646	NP_004637	WXS	Illumina GAIIx	Phase_I	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	476	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		107		A -> T (in NPHS1).|A -> V (in NPHS1).	Ig-like C2-type 1.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.320C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019374	0.75275	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.53857	0.6;0.6	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061281	0.64402	D	0.000006	T	0.79405	0.4440	M	0.91561	3.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.83142	-0.0108	10	0.87932	D	0	-18.7473	17.8963	0.88890	0.0:0.0:1.0:0.0	.	107	O60500	NPHN_HUMAN	E	107	ENSP00000368190:A107E;ENSP00000343634:A107E	ENSP00000343634:A107E	A	-	2	0	NPHS1	41034081	0.979000	0.34478	0.646000	0.29493	0.179000	0.23085	3.644000	0.54381	2.828000	0.97474	0.650000	0.86243	GCG		0.642	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			10	15	0	0	0	1	0	10	15					T	36342241	G	T	36342241	3	4	190	1	0	0	0	0	1	0	0	0	10582	1087	38	4	3513	4	NPHS1	19	36342241	Missense_Mutation	SNP	G	TCGA-EL-A3H5-01A-11D-A202-08	24782796	36342241	22786742	23	3360											
NHS	4810	broad.mit.edu	37	X	17742462	17742462	+	Silent	SNP	T	T	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:17742462T>A	ENST00000380060.3	+	5	1427	c.1089T>A	c.(1087-1089)gtT>gtA	p.V363V	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.V207V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	384					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)					GCTCTCTGGTTCATTCACAAT	0.423																																						uc011mix.2																			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.(1150-1152)gtT>gtA		Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.							138	116	124					X																	17742462		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17742462T>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1089T>A	X.37:g.17742462T>A			Somatic				NHS_uc004cxx.3_Silent_p.V363V|NHS_uc004cxy.3_Silent_p.V207V|NHS_uc004cxz.3_Silent_p.V186V|NHS_uc004cya.3_Silent_p.V86V	p.V384V	NM_001136024	NP_001129496	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			5	1490	+	Hepatocellular(33;0.183)		363					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.1152T>A	CCDS14181.1																																																																																				0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		40	120	0	0	0	1	0	40	120					A	17742462	T	A	17742462	2	1	190	1	0	0	0	0	0	0	0	1	10411	1770	62	5		5	NHS	23	17742462	Silent	SNP	T	TCGA-EL-A3H5-01A-11D-A202-08		17742462	137528098	24	3361											
USP9X	8239	broad.mit.edu	37	X	41075213	41075213	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:41075213A>C	ENST00000324545.8	+	35	6026	c.5393A>C	c.(5392-5394)aAg>aCg	p.K1798T	USP9X_ENST00000378308.2_Missense_Mutation_p.K1798T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1798	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATACAACTAAAGCGATTTGAC	0.363																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5392-5394)aAg>aCg		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							78	74	76					X																	41075213		2062	4242	6304	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075213A>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5393A>C	X.37:g.41075213A>C	ENSP00000316357:p.Lys1798Thr		Somatic				USP9X_uc004dfc.3_Missense_Mutation_p.K1798T	p.K1798T	NM_001039590	NP_001034679	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			34	6026	+			1798					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5393A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054648	0.75960	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.39229	1.09;1.09	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84091	0.0390	10	0.87932	D	0	.	14.9351	0.70948	1.0:0.0:0.0:0.0	.	1798;1798	Q93008-1;Q93008	.;USP9X_HUMAN	T	1798	ENSP00000367558:K1798T;ENSP00000316357:K1798T	ENSP00000316357:K1798T	K	+	2	0	USP9X	40960157	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.906000	0.92626	1.909000	0.55274	0.486000	0.48141	AAG		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		35	70	0	0	0	1	0	35	70					C	41075213	A	C	41075213	3	2	190	1	0	0	0	0	1	0	0	0	17087	72	3	5	5527	5	USP9X	23	41075213	Missense_Mutation	SNP	A	TCGA-EL-A3H5-01A-11D-A202-08	23332751	41075213	114195347	25	3362											
NGFRAP1	27018	broad.mit.edu	37	X	102632483	102632483	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:102632483C>T	ENST00000372645.3	+	3	391	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	NGFRAP1_ENST00000372634.1_Missense_Mutation_p.R12C|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.R22C|NGFRAP1_ENST00000361298.4_Missense_Mutation_p.R12C|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.R22C			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	22					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGAGGAAGACCGCCCTTTGGG	0.498																																						uc004eki.3																			0		p.D21D(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(64-66)Cgc>Tgc		Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.							159	156	157					X																	102632483		2203	4300	6503	SO:0001583	missense	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632483C>T	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"brain expressed, X-linked 3"	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.64C>T	X.37:g.102632483C>T	ENSP00000361728:p.Arg22Cys		Somatic				NGFRAP1_uc004ekh.3_Missense_Mutation_p.R12C|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R22C	p.R22C	NM_206915	NP_996800	WXS	Illumina GAIIx	Phase_I	Q00994	BEX3_HUMAN			2	446	+			22					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation	SNP	ENST00000372645.3	37	c.64C>T	CCDS14508.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272384	0.40194	.	.	ENSG00000166681	ENST00000361298;ENST00000372645;ENST00000372635;ENST00000372634;ENST00000299872	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	3.68	3.68	0.42216	.	0.162424	0.29767	N	0.011260	T	0.04907	0.0132	N	0.11000	0.08	0.42515	D	0.992986	D	0.58970	0.984	B	0.37267	0.245	T	0.42865	-0.9426	10	0.46703	T	0.11	-0.3257	9.9539	0.41655	0.0:1.0:0.0:0.0	.	22	Q00994	BEX3_HUMAN	C	12;22;22;12;22	ENSP00000354843:R12C;ENSP00000361728:R22C;ENSP00000361718:R22C;ENSP00000361717:R12C;ENSP00000299872:R22C	ENSP00000299872:R22C	R	+	1	0	NGFRAP1	102519139	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.711000	0.47177	2.101000	0.63845	0.529000	0.55759	CGC		0.498	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		66	251	0	0	0	1	0	66	251					T	102632483	C	T	102632483	3	4	190	1	0	0	0	0	1	0	0	0	10397	652	23	1	66	1	NGFRAP1	23	102632483	Missense_Mutation	SNP	C	TCGA-EL-A3H5-01A-11D-A202-08	61557270	102632483	52638077	26	3363											
PEX10	5192	broad.mit.edu	37	1	2341873	2341873	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:2341873C>G	ENST00000447513.2	-	2	198	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	PEX10_ENST00000507596.1_Missense_Mutation_p.E44Q|PEX10_ENST00000288774.3_Missense_Mutation_p.E44Q|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	44					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TTCCTCCACTCCAGCCACTTC	0.592																																					GBM(12;9 508 1649 13619)	uc001ajg.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(130-132)Gag>Cag		Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript variant 1, mRNA.							90	76	81					1																	2341873		2203	4300	6503	SO:0001583	missense	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein C-terminus binding|protein binding|zinc ion binding	g.chr1:2341873C>G	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.130G>C	1.37:g.2341873C>G	ENSP00000407922:p.Glu44Gln		Somatic				PEX10_uc001ajh.3_Missense_Mutation_p.E44Q	p.E44Q	NM_153818	NP_722540	WXS	Illumina GAIIx	Phase_I	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	1	199	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	44					B3KWD8|Q5T095|Q9BW90	Missense_Mutation	SNP	ENST00000447513.2	37	c.130G>C	CCDS44045.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954828	0.18431	.	.	ENSG00000157911	ENST00000288774;ENST00000447513;ENST00000507596	D;D;D	0.82255	-1.59;-1.59;-1.59	4.73	3.81	0.43845	Pex, N-terminal (1);	0.660425	0.15985	N	0.235088	T	0.72590	0.3479	L	0.28458	0.855	0.33033	D	0.530385	B;B	0.22146	0.065;0.012	B;B	0.21151	0.033;0.022	T	0.68588	-0.5369	10	0.14656	T	0.56	-0.3365	12.769	0.57410	0.0:0.6843:0.3157:0.0	.	44;44	O60683;O60683-2	PEX10_HUMAN;.	Q	44	ENSP00000288774:E44Q;ENSP00000407922:E44Q;ENSP00000424291:E44Q	ENSP00000288774:E44Q	E	-	1	0	PEX10	2331733	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.806000	0.27126	0.969000	0.38237	0.462000	0.41574	GAG		0.592	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		4	72	0	0	0	1	0	4	72					G	2341873	C	G	2341873	3	3	191	1	0	0	0	0	1	0	0	0	11736	864	30	4	930	4	PEX10	1	2341873	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		2341873	246908748	1	3364											
TAS1R2	80834	broad.mit.edu	37	1	19181248	19181248	+	Missense_Mutation	SNP	G	G	A	rs577863777		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr1:19181248G>A	ENST00000375371.3	-	3	737	c.716C>T	c.(715-717)aCg>aTg	p.T239M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	239					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)	TGTGGGCAGCGTCTCCTGGAA	0.642													G|||	1	0.000199681	0	0	5008	,	,		19777	0		0	False		,,,				2504	0.001					uc001bba.1																			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.(715-717)aCg>aTg		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						57	51	53					1																	19181248		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181248G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.716C>T	1.37:g.19181248G>A	ENSP00000364520:p.Thr239Met		Somatic					p.T239M	NM_152232	NP_689418	WXS	Illumina GAIIx	Phase_I	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)	2	717	-		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)	239					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.716C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513528	0.27123	.	.	ENSG00000179002	ENST00000375371	D	0.86164	-2.08	4.99	0.569	0.17340	Extracellular ligand-binding receptor (1);	3.773490	0.00873	N	0.002056	D	0.88273	0.6392	L	0.33668	1.02	0.09310	N	1	D	0.65815	0.995	P	0.60886	0.88	T	0.73892	-0.3839	10	0.41790	T	0.15	.	6.7382	0.23421	0.6261:0.0:0.3739:0.0	.	239	Q8TE23	TS1R2_HUMAN	M	239	ENSP00000364520:T239M	ENSP00000364520:T239M	T	-	2	0	TAS1R2	19053835	0.036000	0.19791	0.119000	0.21687	0.265000	0.26407	1.116000	0.31221	-0.072000	0.12864	-0.258000	0.10820	ACG		0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			12	15	0	0	0	1	0	12	15					A	19181248	G	A	19181248	3	1	191	1	0	0	0	0	1	0	0	0	15560	1145	40	1	1819	1	TAS1R2	1	19181248	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	16839375	19181248	230069373	2	3365											
TTN	7273	broad.mit.edu	37	2	179579858	179579858	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr2:179579858G>A	ENST00000591111.1	-	88	25328	c.25104C>T	c.(25102-25104)agC>agT	p.S8368S	TTN_ENST00000589042.1_Silent_p.S8685S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S7441S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12542	Ig-like 66.				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)			ACTTCTTGCCGCTCCTAAGTT	0.443																																						uc021vsy.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.(22321-22323)agC>agT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							318	300	306					2																	179579858		1923	4120	6043	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579858G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25104C>T	2.37:g.179579858G>A			Somatic				TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S4102S	p.S7441S	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		86	22548	-			8368	S -> N (in Ref. 1; CAA62189).		Ig-like 56.		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.22323C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	290	0	0	0	1	0	8	290					A	179579858	G	A	179579858	2	1	191	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179579858	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		179579858	63619515	3	3366											
HHLA2	11148	broad.mit.edu	37	3	108076828	108076828	+	Missense_Mutation	SNP	C	C	G	rs369237811		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr3:108076828C>G	ENST00000357759.5	+	6	1237	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	HHLA2_ENST00000467562.1_Missense_Mutation_p.L211V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L275V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L275V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L275V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	275	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGCTTACTATCTGAGCTCCTC	0.373													C|||	1	0.000199681	8e-04	0	5008	,	,		18436	0		0	False		,,,				2504	0					uc003dwy.4																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(823-825)Ctg>Gtg		Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.		C	VAL/LEU	1,3705		0,1,1852	147	144	145		823	-3.6	0.0	3		145	0,8200		0,0,4100	no	missense	HHLA2	NM_007072.2	32	0,1,5952	GG,GC,CC		0.0,0.027,0.0084	possibly-damaging	275/415	108076828	1,11905	1853	4100	5953	SO:0001583	missense	11148					integral to membrane		g.chr3:108076828C>G	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.823C>G	3.37:g.108076828C>G	ENSP00000350402:p.Leu275Val		Somatic				HHLA2_uc011bhl.2_Missense_Mutation_p.L211V|HHLA2_uc010hpu.3_Missense_Mutation_p.L275V|HHLA2_uc003dwz.3_Missense_Mutation_p.L275V	p.L275V	NM_007072	NP_009003	WXS	Illumina GAIIx	Phase_I	Q9UM44	HHLA2_HUMAN			5	990	+			275			Ig-like V-type 2.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.823C>G	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.985|8.985	0.976363|0.976363	0.18736|0.18736	2.7E-4|2.7E-4	0.0|0.0	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17;-0.17|.	4.92|4.92	-3.64|-3.64	0.04515|0.04515	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	2.299950|.	0.02738|.	N|.	0.115910|.	T|T	0.17365|0.17365	0.0417|0.0417	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P|.	0.39862|.	0.692;0.692;0.692|.	B;B;B|.	0.42692|.	0.395;0.22;0.395|.	T|T	0.27226|0.27226	-1.0080|-1.0080	10|5	0.15066|.	T|.	0.55|.	-6.7831|-6.7831	0.4568|0.4568	0.00510|0.00510	0.2837:0.2068:0.1317:0.3778|0.2837:0.2068:0.1317:0.3778	.|.	211;275;275|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	V|C	275;211;275;275;275|177	ENSP00000418284:L275V;ENSP00000418345:L211V;ENSP00000350402:L275V;ENSP00000419207:L275V;ENSP00000417856:L275V|.	ENSP00000350402:L275V|.	L|S	+|+	1|2	2|0	HHLA2|HHLA2	109559518|109559518	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	-1.506000|-1.506000	0.02271|0.02271	-0.341000|-0.341000	0.08376|0.08376	-0.142000|-0.142000	0.14014|0.14014	CTG|TCT		0.373	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		18	103	0	0	0	1	0	18	103					G	108076828	C	G	108076828	3	3	191	1	0	0	0	0	1	0	0	0	7095	912	32	4	837	4	HHLA2	3	108076828	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		108076828	89945602	4	3367											
PCDHA8	56140	broad.mit.edu	37	5	140222759	140222759	+	Missense_Mutation	SNP	C	C	G	rs369930708		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr5:140222759C>G	ENST00000531613.1	+	1	1853	c.1853C>G	c.(1852-1854)cCt>cGt	p.P618R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P618R|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	618	Cadherin 6. {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(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCAGCCCTCGCATCCCG	0.677																																						uc003lhs.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1852-1854)cCt>cGt		Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.							95	94	94					5																	140222759		2197	4272	6469	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140222759C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1853C>G	5.37:g.140222759C>G	ENSP00000434655:p.Pro618Arg		Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P618R	p.P618R	NM_018911	NP_061734	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1853	+			629			Cadherin 6.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1853C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	1.437	-0.568604	0.03910	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.21191	2.02;2.02	2.93	-1.94	0.07571	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12263	0.0298	L	0.28458	0.855	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31888	-0.9927	9	0.66056	D	0.02	.	2.8715	0.05618	0.2391:0.3379:0.3263:0.0968	.	618;618	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	R	618	ENSP00000434655:P618R;ENSP00000367363:P618R	ENSP00000367363:P618R	P	+	2	0	PCDHA8	140202943	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	0.878000	0.28126	-0.202000	0.10268	0.313000	0.20887	CCT		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		8	223	0	0	0	1	0	8	223					G	140222759	C	G	140222759	3	3	191	1	0	0	0	0	1	0	0	0	11530	681	24	4	1855	4	PCDHA8	5	140222759	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		140222759	40692501	5	3368											
RNF216	54476	broad.mit.edu	37	7	5662664	5662664	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:5662664G>T	ENST00000425013.2	-	17	2652	c.2428C>A	c.(2428-2430)Cct>Act	p.P810T	RNF216_ENST00000389902.3_Missense_Mutation_p.P867T|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	810	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CGCACGGGAGGCAGGGGGAAG	0.647																																						uc003sox.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2599-2601)Cct>Act		Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.							72	77	75					7																	5662664		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662664G>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2428C>A	7.37:g.5662664G>T	ENSP00000404602:p.Pro810Thr		Somatic				RNF216_uc010ksz.2_Missense_Mutation_p.P432T|RNF216_uc010kta.2_Missense_Mutation_p.P432T|RNF216_uc003soy.2_Missense_Mutation_p.P810T|RNF216_uc011jwj.2_Missense_Mutation_p.P432T	p.P867T	NM_207111	NP_996994	WXS	Illumina GAIIx	Phase_I	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	16	2858	-		Ovarian(82;0.07)	810					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2599C>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265505	0.59431	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.54479	0.59;0.57	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.50333	1.59	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.71656	0.951;0.974	T	0.70022	-0.4986	10	0.66056	D	0.02	-11.8033	17.7162	0.88337	0.0:0.0:1.0:0.0	.	810;867	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	T	810;867;622	ENSP00000404602:P810T;ENSP00000374552:P867T	ENSP00000374552:P867T	P	-	1	0	RNF216	5629190	1.000000	0.71417	0.995000	0.50966	0.356000	0.29392	5.002000	0.63952	2.488000	0.83962	0.561000	0.74099	CCT		0.647	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		54	110	0	0	0	1	0	54	110					T	5662664	G	T	5662664	3	4	191	1	0	0	0	0	1	0	0	0	13480	1203	42	4	176	4	RNF216	7	5662664	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		5662664	153475999	6	3369											
ZAN	7455	broad.mit.edu	37	7	100377342	100377342	+	RNA	DEL	C	C	-			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:100377342delC	ENST00000348028.3	+	0	6756				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_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)			GGGGCTCAAGCCCCCACTCTG	0.627																																						uc003uwj.3																			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						c.(6589-6591)cccfs		Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.							11	13	13					7																	100377342		1896	4077	5973			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377342delC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377342delC			Somatic				ZAN_uc003uwk.3_Frame_Shift_Del_p.P2197fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Intron	p.P2197fs	NM_003386	NP_003377	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		35	6754	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2198					A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	ENST00000348028.3	37	c.6589delC																																																																																					0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---	-	100377342	C	-	100377342	6	5	191	0	1	1	0	1	0	0	0	0	17510	739	26	0		0	ZAN	7	100377342	RNA	DEL	C	TCGA-EL-A3H7-01A-11D-A21A-08	94714678	100377342	58761321	7	3370											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	52	0	0	0	1	0	27	52					T	140453136	A	T	140453136	3	4	191	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08	40075794	140453136	18685527	8	3371											
GPT	2875	broad.mit.edu	37	8	145732033	145732033	+	Silent	SNP	C	C	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr8:145732033C>T	ENST00000528431.1	+	10	1438	c.1281C>T	c.(1279-1281)cgC>cgT	p.R427R	GPT_ENST00000394955.2_Silent_p.R427R|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	427					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CGGTGGAGCGCGCTCAGGTCA	0.731																																						uc003zdh.4																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(1279-1281)cgC>cgT		Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						4	4	4					8																	145732033		1886	3671	5557	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145732033C>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1281C>T	8.37:g.145732033C>T			Somatic				MFSD3_uc003zdi.1_5'Flank	p.R427R	NM_005309	NP_005300	WXS	Illumina GAIIx	Phase_I	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		8	1504	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		427					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.1281C>T	CCDS6430.1																																																																																				0.731	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			7	9	0	0	0	1	0	7	9					T	145732033	C	T	145732033	2	4	191	1	0	0	0	0	0	0	0	1	6737	755	27	1		1	GPT	8	145732033	Silent	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		145732033	631989	9	3372											
ERMP1	79956	broad.mit.edu	37	9	5832860	5832861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:5832860_5832861insC	ENST00000339450.5	-	1	256_257	c.167_168insG	c.(166-168)ggtfs	p.G56fs	ERMP1_ENST00000214893.5_5'Flank|ERMP1_ENST00000381506.3_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	56						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CGCCGCCGCTACCCCCGGGGCT	0.787																																						uc003zjm.1																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(166-168)ggtfs		Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.																																				SO:0001589	frameshift_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5832860_5832861insC	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.168dupG	9.37:g.5832865_5832865dupC	ENSP00000340427:p.Gly56fs		Somatic				ERMP1_uc022bdc.1_5'Flank|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Frame_Shift_Ins_p.G56fs	p.G56fs	NM_024896	NP_079172	WXS	Illumina GAIIx	Phase_I	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	0	221_222	-		Acute lymphoblastic leukemia(23;0.158)	56					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Frame_Shift_Ins	INS	ENST00000339450.5	37	c.167_168insG	CCDS34983.1																																																																																				0.787	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		2	4						2	4	---	---	---	---	C	5832861	-	C	5832860	7	5	191	1	0	1	1	0	0	0	0	0	5236	378	14	0	2606	0	ERMP1	9	5832860	Frame_Shift_Ins	INS	-	TCGA-EL-A3H7-01A-11D-A21A-08		5832860	135380571	10	3373											
BRD3	8019	broad.mit.edu	37	9	136915622	136915622	+	Silent	SNP	G	G	A	rs142203601	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr9:136915622G>A	ENST00000303407.7	-	5	773	c.588C>T	c.(586-588)atC>atT	p.I196I	BRD3_ENST00000371834.2_Silent_p.I196I|BRD3_ENST00000357885.2_Silent_p.I196I	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	196					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGTGGCAGCGATGACGGGCG	0.662			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.3				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(586-588)atC>atT		Homo sapiens bromodomain containing 3 (BRD3), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	72	83	79		588	-1.7	1.0	9	dbSNP_134	79	0,8598		0,0,4299	no	coding-synonymous	BRD3	NM_007371.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		196/727	136915622	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136915622G>A		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.588C>T	9.37:g.136915622G>A			Somatic				BRD3_uc004cex.2_Silent_p.I196I	p.I196I	NM_007371	NP_031397	WXS	Illumina GAIIx	Phase_I	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	4	776	-			196					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.588C>T	CCDS6980.1																																																																																				0.662	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		15	214	0	0	0	1	0	15	214					A	136915622	G	A	136915622	2	1	191	1	0	0	0	0	0	0	0	1	1503	1048	37	1		1	BRD3	9	136915622	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	131082762	136915622	4297809	11	3374											
KLF6	1316	broad.mit.edu	37	10	3824179	3824179	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:3824179G>A	ENST00000497571.1	-	2	590	c.330C>T	c.(328-330)agC>agT	p.S110S	KLF6_ENST00000542957.1_Silent_p.S110S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Silent_p.S110S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	110					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CAGAGGATTCGCTGCTGACAT	0.517											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(328-330)agC>agT		Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.							169	182	178					10																	3824179		2203	4300	6503	SO:0001819	synonymous_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824179G>A	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.330C>T	10.37:g.3824179G>A			Somatic	OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.2_Silent_p.S110S|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Silent_p.S110S|KLF6_uc001ihb.2_Silent_p.S110S	p.S110S	NM_001300	NP_001291	WXS	Illumina GAIIx	Phase_I	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	1	597	-			110					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	ENST00000497571.1	37	c.330C>T	CCDS7060.1																																																																																				0.517	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			12	298	0	0	0	1	0	12	298					A	3824179	G	A	3824179	2	1	191	1	0	0	0	0	0	0	0	1	8350	1078	38	1		1	KLF6	10	3824179	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		3824179	131710568	12	3375											
A1CF	29974	broad.mit.edu	37	10	52569681	52569681	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:52569681C>T	ENST00000373993.1	-	10	1650	c.1606G>A	c.(1606-1608)Gct>Act	p.A536T	A1CF_ENST00000395489.2_Missense_Mutation_p.A529T|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'Flank|A1CF_ENST00000373997.3_Missense_Mutation_p.A528T|A1CF_ENST00000395495.1_Missense_Mutation_p.A481T|A1CF_ENST00000282641.2_Missense_Mutation_p.A536T|A1CF_ENST00000374001.2_Missense_Mutation_p.A528T|A1CF_ENST00000373995.3_Missense_Mutation_p.A536T			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	536					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						gcagcagcagcagtagcCATG	0.527																																						uc010qho.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1630-1632)Gct>Act		Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 5, mRNA.							100	90	93					10																	52569681		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52569681C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1606G>A	10.37:g.52569681C>T	ENSP00000363105:p.Ala536Thr		Somatic				A1CF_uc010qhn.2_Missense_Mutation_p.A536T|A1CF_uc009xov.3_Missense_Mutation_p.A528T|A1CF_uc001jjj.3_Missense_Mutation_p.A536T|A1CF_uc001jji.3_Missense_Mutation_p.A528T|A1CF_uc001jjh.3_Missense_Mutation_p.A536T	p.A544T	NM_001198819	NP_001185748	WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			13	2030	-			536					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1630G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276234	0.23307	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.12465	2.75;2.81;2.75;2.8;2.81;2.68;2.81	5.58	2.56	0.30785	.	0.602110	0.13673	N	0.370702	T	0.10294	0.0252	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.34477	-0.9827	10	0.21014	T	0.42	-2.5634	6.7666	0.23571	0.0:0.6871:0.1471:0.1659	.	529;536;528;536	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	T	528;536;528;536;536;481;511;529	ENSP00000363113:A528T;ENSP00000363105:A536T;ENSP00000363109:A528T;ENSP00000363107:A536T;ENSP00000282641:A536T;ENSP00000378873:A481T;ENSP00000378868:A529T	ENSP00000282641:A536T	A	-	1	0	A1CF	52239687	0.004000	0.15560	0.006000	0.13384	0.061000	0.15899	0.157000	0.16402	0.714000	0.32081	0.655000	0.94253	GCT		0.527	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		4	105	0	0	0	1	0	4	105					T	52569681	C	T	52569681	3	4	191	1	0	0	0	0	1	0	0	0	2	710	25	2	186	2	A1CF	10	52569681	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	48745502	52569681	82965066	13	3376											
INPP5F	79892	broad.mit.edu	37	10	121586462	121586462	+	IGR	SNP	T	T	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr10:121586462T>C	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.S857P|INPP5F_ENST00000369080.3_Missense_Mutation_p.S247P	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGATAATGACTCATACCACTC	0.408																																						uc001leo.3																			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.(2569-2571)Tca>Cca		Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.							120	110	113					10																	121586462		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586462T>C	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586462T>C			Somatic				INPP5F_uc001lep.3_Missense_Mutation_p.S247P	p.S857P	NM_014937	NP_055752	WXS	Illumina GAIIx	Phase_I	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	19	2785	+		Lung NSC(174;0.109)|all_lung(145;0.142)	857					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.2569T>C	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325545	0.81580	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.55052	0.85;0.54	5.92	5.92	0.95590	.	0.288604	0.34802	N	0.003663	T	0.63046	0.2478	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.60934	-0.7164	10	0.35671	T	0.21	-12.6761	16.3631	0.83280	0.0:0.0:0.0:1.0	.	247;857	Q5W135;Q9Y2H2	.;SAC2_HUMAN	P	857;247	ENSP00000354519:S857P;ENSP00000358076:S247P	ENSP00000354519:S857P	S	+	1	0	INPP5F	121576452	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.603000	0.82811	2.266000	0.75297	0.533000	0.62120	TCA		0.408	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		47	78	0	0	0	1	0	47	78					C	121586462	T	C	121586462	1	2	191	0	1	0	0	0	0	0	0	0	7758	1551	54	3		3	INPP5F	10	121586462	IGR	SNP	T	TCGA-EL-A3H7-01A-11D-A21A-08	69016781	121586462	13948285	14	3377											
MUC5B	727897	broad.mit.edu	37	11	1281040	1281040	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:1281040G>A	ENST00000529681.1	+	45	16826	c.16768G>A	c.(16768-16770)Gcc>Acc	p.A5590T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A5593T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5590					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGTCCAGACCGCCTGCCTCAC	0.657																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16768-16770)Gcc>Acc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							65	77	73					11																	1281040		2108	4213	6321	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1281040G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16768G>A	11.37:g.1281040G>A	ENSP00000436812:p.Ala5590Thr		Somatic					p.A5590T	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	44	16827	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5590					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16768G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	5.859	0.342618	0.11069	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.65178	-0.14;-0.14;-0.14	4.25	1.26	0.21427	.	.	.	.	.	T	0.45216	0.1331	L	0.46885	1.475	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.34590	0.186;0.186	T	0.43653	-0.9378	9	0.87932	D	0	.	3.297	0.06970	0.2976:0.0:0.519:0.1834	.	5927;5593	A7Y9J9;E9PBJ0	.;.	T	5590;5593;5534;489;5302;135	ENSP00000436812:A5590T;ENSP00000415793:A5593T;ENSP00000434539:A135T	ENSP00000343037:A5534T	A	+	1	0	MUC5B	1237616	0.001000	0.12720	0.199000	0.23439	0.019000	0.09904	0.409000	0.21082	0.168000	0.19655	0.561000	0.74099	GCC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	119	0	0	0	1	0	10	119					A	1281040	G	A	1281040	3	1	191	1	0	0	0	0	1	0	0	0	9979	1087	38	1	16955	1	MUC5B	11	1281040	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		1281040	133725476	15	3378											
MARK2	2011	broad.mit.edu	37	11	63606995	63606995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:63606995delC	ENST00000508192.1	+	1	519	c.17delC	c.(16-18)accfs	p.T6fs	MARK2_ENST00000402010.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.T6fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.T6fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.T6fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.T6fs|MARK2_ENST00000377810.3_5'UTR|MARK2_ENST00000377809.4_Frame_Shift_Del_p.T6fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.T6fs					MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCGCTCGGACCCCCCTACCC	0.692																																						uc001nxw.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(16-18)accfs		Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.							20	26	24					11																	63606995		1770	3868	5638	SO:0001589	frameshift_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63606995delC	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000508192.1:c.17delC	11.37:g.63606995delC	ENSP00000425765:p.Thr6fs		Somatic				MARK2_uc001nxv.4_Frame_Shift_Del_p.T6fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.T6fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.T6fs	p.T6fs	NM_001039469	NP_001034558	WXS	Illumina GAIIx	Phase_I	Q7KZI7	MARK2_HUMAN			0	596	+			6						Frame_Shift_Del	DEL	ENST00000508192.1	37	c.17delC	CCDS8051.2																																																																																				0.692	MARK2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360860.1	NM_017490		2	4						2	4	---	---	---	---	-	63606995	C	-	63606995	7	5	191	1	0	1	0	1	0	0	0	0	9313	507	18	0	19	0	MARK2	11	63606995	Frame_Shift_Del	DEL	C	TCGA-EL-A3H7-01A-11D-A21A-08	62325955	63606995	71399521	16	3379											
PRDM10	56980	broad.mit.edu	37	11	129812425	129812425	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr11:129812425G>A	ENST00000360871.3	-	7	1093	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	PRDM10_ENST00000526082.1_Missense_Mutation_p.R202W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R262W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R202W|PRDM10_ENST00000358825.5_Missense_Mutation_p.R288W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R202W	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGGGCTGGCCGTACAAACATC	0.453																																						uc001qfm.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(862-864)Cgg>Tgg		Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.							153	146	148					11																	129812425		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129812425G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.862C>T	11.37:g.129812425G>A	ENSP00000354118:p.Arg288Trp		Somatic				PRDM10_uc001qfj.3_Missense_Mutation_p.R202W|PRDM10_uc001qfk.3_Missense_Mutation_p.R202W|PRDM10_uc001qfl.3_Missense_Mutation_p.R202W|PRDM10_uc010sbx.2_Missense_Mutation_p.R202W|PRDM10_uc001qfn.3_Missense_Mutation_p.R288W|PRDM10_uc009zct.1_Missense_Mutation_p.R320W	p.R288W	NM_020228	NP_064613	WXS	Illumina GAIIx	Phase_I	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	6	1094	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	288			SET.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.862C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871275	0.72065	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	D;D;D;D;D;D;T	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;2.6	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	M	0.78344	2.41	0.54753	D	0.999987	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.99;0.999;0.996;0.99;0.996;0.993;0.996	D	0.93136	0.6537	10	0.87932	D	0	-21.7972	19.5216	0.95187	0.0:0.0:1.0:0.0	.	202;288;288;288;202;202;202	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	W	288;202;288;202;262;202;5	ENSP00000351686:R288W;ENSP00000302669:R202W;ENSP00000354118:R288W;ENSP00000398431:R202W;ENSP00000431262:R262W;ENSP00000432237:R202W;ENSP00000435940:R5W	ENSP00000302669:R202W	R	-	1	2	PRDM10	129317635	1.000000	0.71417	0.773000	0.31616	0.892000	0.51952	5.874000	0.69652	2.700000	0.92200	0.561000	0.74099	CGG		0.453	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	120	0	0	0	1	0	4	120					A	129812425	G	A	129812425	3	1	191	1	0	0	0	0	1	0	0	0	12451	1144	40	1	2684	1	PRDM10	11	129812425	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	66205430	129812425	5194091	17	3380											
SLC15A1	6564	broad.mit.edu	37	13	99354751	99354751	+	Silent	SNP	T	T	C	rs550700409	byFrequency	TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:99354751T>C	ENST00000376503.5	-	18	1504	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	483					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTTTCCCCTTTTTCTGGCT	0.284													T|||	6	0.00119808	0	0	5008	,	,		18498	0		0	False		,,,				2504	0.0061					uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1447-1449)aaA>aaG		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						61	68	65					13																	99354751		2201	4296	6497	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99354751T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1449A>G	13.37:g.99354751T>C			Somatic					p.K483K	NM_005073	NP_005064	WXS	Illumina GAIIx	Phase_I	P46059	S15A1_HUMAN			17	1526	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		483					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1449A>G	CCDS9489.1																																																																																				0.284	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		3	118	0	0	0	1	0	3	118					C	99354751	T	C	99354751	2	2	191	1	0	0	0	0	0	0	0	1	14398	1606	56	3		3	SLC15A1	13	99354751	Silent	SNP	T	TCGA-EL-A3H7-01A-11D-A21A-08		99354751	15815127	18	3381											
C13orf27	93081	broad.mit.edu	37	13	103419661	103419661	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr13:103419661G>A	ENST00000376032.4	-	5	655	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	TEX30_ENST00000376019.1_Silent_p.L115L|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376021.4_Silent_p.L115L|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376027.1_Intron	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	156										lung(1)|urinary_tract(1)	2						GACACAAACAGTACAGGCTCT	0.403																																						uc001vpo.3																			0				lung(1)|urinary_tract(1)	2						c.(466-468)Ctg>Ttg		Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.							98	95	96					13																	103419661		2203	4300	6503	SO:0001819	synonymous_variant	93081							g.chr13:103419661G>A	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.466C>T	13.37:g.103419661G>A			Somatic				TEX30_uc001vpn.3_Silent_p.L115L	p.L156L	NM_138779	NP_620134	WXS	Illumina GAIIx	Phase_I	Q5JUR7	CM027_HUMAN			4	644	-			156					Q5JUR8|Q96KZ8	Silent	SNP	ENST00000376032.4	37	c.466C>T	CCDS9503.2																																																																																				0.403	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		3	88	0	0	0	1	0	3	88					A	103419661	G	A	103419661	2	1	191	1	0	0	0	0	0	0	0	1	1723	1020	36	2		2	C13orf27	13	103419661	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	4064910	103419661	11750217	19	3382											
ABHD4	63874	broad.mit.edu	37	14	23075393	23075393	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:23075393G>C	ENST00000428304.2	+	5	776	c.706G>C	c.(706-708)Gat>Cat	p.D236H	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	236					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTTTGAAGATGATACCATATC	0.517																																						uc001wgm.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(706-708)Gat>Cat		Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.							60	56	58					14																	23075393		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23075393G>C	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"Abhydrolase domain containing"	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.706G>C	14.37:g.23075393G>C	ENSP00000414558:p.Asp236His		Somatic				ABHD4_uc010tna.1_Missense_Mutation_p.M262I|ABHD4_uc010tnb.2_Non-coding_Transcript	p.D236H	NM_022060	NP_071343	WXS	Illumina GAIIx	Phase_I	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	4	775	+	all_cancers(95;5.49e-05)		236					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.706G>C	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338821	0.81911	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	T;T	0.68765	-0.35;-0.35	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.66439	2.03	0.58432	D	0.999997	D	0.58620	0.983	D	0.63488	0.915	T	0.79850	-0.1629	10	0.52906	T	0.07	-14.1716	16.7765	0.85552	0.0:0.0:1.0:0.0	.	236	Q8TB40	ABHD4_HUMAN	H	236;170	ENSP00000414558:D236H;ENSP00000216327:D170H	ENSP00000216327:D170H	D	+	1	0	ABHD4	22145233	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.778000	0.55371	2.551000	0.86045	0.650000	0.86243	GAT		0.517	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			3	28	0	0	0	1	0	3	28					C	23075393	G	C	23075393	3	2	191	1	0	0	0	0	1	0	0	0	84	1290	45	4	724	4	ABHD4	14	23075393	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		23075393	84274147	20	3383											
TTLL5	23093	broad.mit.edu	37	14	76259282	76259282	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr14:76259282C>T	ENST00000298832.9	+	27	3215	c.3010C>T	c.(3010-3012)Cat>Tat	p.H1004Y	TTLL5_ENST00000554510.1_Missense_Mutation_p.H513Y|TTLL5_ENST00000557636.1_Missense_Mutation_p.H1019Y|TTLL5_ENST00000556893.1_Missense_Mutation_p.H555Y	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1004					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AAACAAGCATCATTCAGGAAT	0.378																																						uc010ask.2																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3055-3057)Cat>Tat		Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.							82	70	74					14																	76259282		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76259282C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3010C>T	14.37:g.76259282C>T	ENSP00000298832:p.His1004Tyr		Somatic				TTLL5_uc001xrx.3_Missense_Mutation_p.H1004Y|TTLL5_uc001xrz.3_Missense_Mutation_p.H579Y|TTLL5_uc001xsa.3_Missense_Mutation_p.H78Y	p.H1019Y	NM_015072	NP_055887	WXS	Illumina GAIIx	Phase_I	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	27	3330	+			1004					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3055C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760910	0.69763	.	.	ENSG00000119685	ENST00000418433;ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.23348	4.01;4.09;1.91;1.91	5.81	4.9	0.64082	.	0.821409	0.11256	N	0.583094	T	0.34658	0.0905	L	0.27053	0.805	0.23506	N	0.997537	D;D;D;P	0.63880	0.97;0.991;0.993;0.949	P;P;P;B	0.61477	0.572;0.889;0.84;0.368	T	0.27938	-1.0059	10	0.19147	T	0.46	.	14.6888	0.69068	0.0:0.8551:0.1449:0.0	.	1019;78;555;1004	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	Y	691;78;1019;1004;555;555;513	ENSP00000450713:H1019Y;ENSP00000298832:H1004Y;ENSP00000452524:H555Y;ENSP00000451946:H513Y	ENSP00000286653:H78Y	H	+	1	0	TTLL5	75329035	0.998000	0.40836	0.996000	0.52242	0.996000	0.88848	2.245000	0.43133	1.407000	0.46875	0.655000	0.94253	CAT		0.378	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		12	37	0	0	0	1	0	12	37					T	76259282	C	T	76259282	3	4	191	1	0	0	0	0	1	0	0	0	16727	826	29	2	3112	2	TTLL5	14	76259282	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08	53183889	76259282	31090258	21	3384											
USP10	9100	broad.mit.edu	37	16	84792342	84792342	+	Missense_Mutation	SNP	C	C	G	rs558711355		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr16:84792342C>G	ENST00000219473.7	+	5	1326	c.1213C>G	c.(1213-1215)Cta>Gta	p.L405V	USP10_ENST00000570191.1_Missense_Mutation_p.L409V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	405					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAATGTAACCCTAATCCATAA	0.438																																						uc010voe.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1225-1227)Cta>Gta		Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.							154	147	149					16																	84792342		1918	4112	6030	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84792342C>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1213C>G	16.37:g.84792342C>G	ENSP00000219473:p.Leu405Val		Somatic				USP10_uc002fii.3_Missense_Mutation_p.L405V|USP10_uc010vof.2_5'UTR|USP10_uc002fij.3_Intron	p.L409V	NM_005153	NP_005144	WXS	Illumina GAIIx	Phase_I	Q14694	UBP10_HUMAN			5	1476	+			405					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1225C>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414885	0.62511	.	.	ENSG00000103194	ENST00000219473	T	0.07688	3.17	5.48	4.49	0.54785	.	0.424945	0.23585	N	0.046618	T	0.18923	0.0454	L	0.59436	1.845	0.54753	D	0.999989	D;P	0.57571	0.98;0.64	P;P	0.58970	0.849;0.517	T	0.02781	-1.1111	10	0.22706	T	0.39	-11.2382	12.7228	0.57152	0.0:0.916:0.0:0.084	.	409;405	Q14694-3;Q14694	.;UBP10_HUMAN	V	405	ENSP00000219473:L405V	ENSP00000219473:L405V	L	+	1	2	USP10	83349843	1.000000	0.71417	0.986000	0.45419	0.940000	0.58332	2.315000	0.43752	1.353000	0.45828	-0.355000	0.07637	CTA		0.438	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			5	137	0	0	0	1	0	5	137					G	84792342	C	G	84792342	3	3	191	1	0	0	0	0	1	0	0	0	17038	680	24	4	1231	4	USP10	16	84792342	Missense_Mutation	SNP	C	TCGA-EL-A3H7-01A-11D-A21A-08		84792342	5562411	22	3385											
INTS2	57508	broad.mit.edu	37	17	59989322	59989322	+	Silent	SNP	G	G	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr17:59989322G>C	ENST00000444766.3	-	6	858	c.783C>G	c.(781-783)gcC>gcG	p.A261A	INTS2_ENST00000251334.6_Silent_p.A253A	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	261					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GGACCTTGAGGGCCTGAGAAG	0.438																																						uc002izn.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(781-783)gcC>gcG		Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.							162	160	161					17																	59989322		1910	4125	6035	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59989322G>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.783C>G	17.37:g.59989322G>C			Somatic				INTS2_uc002izm.3_Silent_p.A253A	p.A261A	NM_020748	NP_065799	WXS	Illumina GAIIx	Phase_I	Q9H0H0	INT2_HUMAN			5	859	-			261					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.783C>G	CCDS45750.1																																																																																				0.438	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		9	120	0	0	0	1	0	9	120					C	59989322	G	C	59989322	2	2	191	1	0	0	0	0	0	0	0	1	7778	1219	43	4		4	INTS2	17	59989322	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		59989322	21205888	23	3386											
KLHL14	57565	broad.mit.edu	37	18	30349967	30349967	+	Silent	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:30349967G>A	ENST00000359358.4	-	2	1026	c.588C>T	c.(586-588)caC>caT	p.H196H	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.H196H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	196						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCTCCAGGCCGTGCAGCGCGG	0.612																																						uc002kxm.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(586-588)caC>caT		Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.							126	101	110					18																	30349967		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349967G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.588C>T	18.37:g.30349967G>A			Somatic					p.H196H	NM_020805	NP_065856	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			1	976	-			196					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.588C>T	CCDS32813.1																																																																																				0.612	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	158	0	0	0	1	0	4	158					A	30349967	G	A	30349967	2	1	191	1	0	0	0	0	0	0	0	1	8370	1136	40	1		1	KLHL14	18	30349967	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		30349967	47727281	24	3387											
SETBP1	26040	broad.mit.edu	37	18	42530643	42530643	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr18:42530643A>T	ENST00000282030.5	+	4	1634	c.1338A>T	c.(1336-1338)gaA>gaT	p.E446D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	446						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGCAGTGAAGTAGTTAACA	0.453									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1336-1338)gaA>gaT		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							85	87	87					18																	42530643		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530643A>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1338A>T	18.37:g.42530643A>T	ENSP00000282030:p.Glu446Asp		Somatic					p.E446D	NM_015559	NP_056374	WXS	Illumina GAIIx	Phase_I	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	3	1634	+			446					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1338A>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	8.178	0.793112	0.16327	.	.	ENSG00000152217	ENST00000282030	T	0.69040	-0.37	6.08	3.56	0.40772	.	0.159699	0.56097	N	0.000040	T	0.50103	0.1596	L	0.29908	0.895	0.26631	N	0.972476	B	0.10296	0.003	B	0.09377	0.004	T	0.34750	-0.9816	10	0.29301	T	0.29	.	8.4133	0.32657	0.6896:0.2458:0.0646:0.0	.	446	Q9Y6X0	SETBP_HUMAN	D	446	ENSP00000282030:E446D	ENSP00000282030:E446D	E	+	3	2	SETBP1	40784641	1.000000	0.71417	0.992000	0.48379	0.439000	0.31926	1.631000	0.37092	0.467000	0.27218	0.533000	0.62120	GAA		0.453	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		6	98	0	0	0	1	0	6	98					T	42530643	A	T	42530643	3	4	191	1	0	0	0	0	1	0	0	0	14129	69	3	5	1541	5	SETBP1	18	42530643	Missense_Mutation	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08	12180676	42530643	35546605	25	3388											
DMPK	1760	broad.mit.edu	37	19	46278224	46278224	+	Silent	SNP	G	G	A	rs138445739		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr19:46278224G>A	ENST00000291270.4	-	9	1340	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	DMPK_ENST00000354227.5_Silent_p.Y400Y|DMPK_ENST00000458663.2_Silent_p.Y400Y|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Silent_p.Y410Y|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000447742.2_Silent_p.Y400Y|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000343373.4_Silent_p.Y415Y|DMPK_ENST00000595361.1_5'UTR|AC074212.6_ENST00000591530.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	405	AGC-kinase C-terminal.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCATGCAGGAGTAGGAGTAGC	0.617																																					Esophageal Squamous(35;307 869 9153 24033 28903)	uc002pdi.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1291-1293)taC>taT		Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.		G	,,,	1,4405	2.1+/-5.4	0,1,2202	87	59	69		1200,1200,1245,1215	3.4	1.0	19	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMPK	NM_001081560.1,NM_001081562.1,NM_001081563.1,NM_004409.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	400/625,400/626,415/640,405/630	46278224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46278224G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1215C>T	19.37:g.46278224G>A			Somatic				DMPK_uc010xxs.1_Silent_p.Y316Y|DMPK_uc002pdd.1_Silent_p.Y415Y|DMPK_uc002pde.1_Silent_p.Y410Y|DMPK_uc002pdg.1_Silent_p.Y400Y|DMPK_uc002pdf.1_Silent_p.Y405Y|DMPK_uc002pdh.1_Silent_p.Y400Y|DMPK_uc010xxt.1_Silent_p.Y400Y	p.Y431Y	NM_001081563	NP_001075032	WXS	Illumina GAIIx	Phase_I	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	9	1479	-		Ovarian(192;0.0308)|all_neural(266;0.112)	415					E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1293C>T	CCDS12674.1																																																																																				0.617	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		3	70	0	0	0	1	0	3	70					A	46278224	G	A	46278224	2	1	191	1	0	0	0	0	0	0	0	1	4584	1024	36	2		2	DMPK	19	46278224	Silent	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		46278224	12850759	26	3389											
TM9SF4	9777	broad.mit.edu	37	20	30753110	30753110	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr20:30753110G>A	ENST00000398022.2	+	18	2027	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	TM9SF4_ENST00000217315.5_Missense_Mutation_p.E581K	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	598						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGACATCGTGGAGTTCATCCC	0.562																																						uc002wxj.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1792-1794)Gag>Aag		Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.							282	197	226					20																	30753110		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30753110G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1792G>A	20.37:g.30753110G>A	ENSP00000381104:p.Glu598Lys		Somatic				TM9SF4_uc010zts.1_Missense_Mutation_p.E505K|TM9SF4_uc002wxk.2_Missense_Mutation_p.E581K	p.E598K	NM_014742	NP_055557	WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		17	2027	+			598					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1792G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180012	0.38511	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44083	0.93;0.93	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	N	0.21373	0.66	0.80722	D	1	B;P	0.44281	0.009;0.831	B;P	0.48425	0.03;0.577	T	0.07158	-1.0787	10	0.02654	T	1	-16.1477	17.7294	0.88373	0.0:0.0:1.0:0.0	.	505;598	B4DH88;Q92544	.;TM9S4_HUMAN	K	598;581	ENSP00000381104:E598K;ENSP00000217315:E581K	ENSP00000217315:E581K	E	+	1	0	TM9SF4	30216771	1.000000	0.71417	0.980000	0.43619	0.727000	0.41649	7.664000	0.83830	2.404000	0.81709	0.561000	0.74099	GAG		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		30	191	0	0	0	1	0	30	191					A	30753110	G	A	30753110	3	1	191	1	0	0	0	0	1	0	0	0	15977	1175	41	2	1862	2	TM9SF4	20	30753110	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		30753110	32272410	27	3390											
IFNAR2	3455	broad.mit.edu	37	21	34635187	34635187	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chr21:34635187G>C	ENST00000342136.4	+	9	1256	c.930G>C	c.(928-930)aaG>aaC	p.K310N	IFNAR2_ENST00000342101.3_3'UTR|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.K310N|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	310					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""Interferon Alfa-2a(DB00034)|""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	TCAACAGAAAGAAGAAAGTGT	0.428																																						uc002yrd.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(928-930)aaG>aaC		Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						107	113	111					21																	34635187		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34635187G>C		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.930G>C	21.37:g.34635187G>C	ENSP00000343957:p.Lys310Asn		Somatic				IFNAR2_uc002yre.3_Missense_Mutation_p.K310N|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	p.K310N	NM_207585	NP_997468	WXS	Illumina GAIIx	Phase_I	P48551	INAR2_HUMAN			8	1258	+			310					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.930G>C	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549430	0.65311	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.51574	0.7;0.7	4.94	4.06	0.47325	.	1.234140	0.05334	N	0.528790	T	0.64659	0.2618	L	0.54323	1.7	0.40637	D	0.981911	D	0.89917	1.0	D	0.68353	0.957	T	0.51012	-0.8759	10	0.72032	D	0.01	.	9.3445	0.38100	0.0974:0.0:0.9026:0.0	.	310	P48551	INAR2_HUMAN	N	310	ENSP00000371676:K310N;ENSP00000343957:K310N	ENSP00000343957:K310N	K	+	3	2	IFNAR2	33557057	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	2.905000	0.48727	1.445000	0.47624	-0.251000	0.11542	AAG		0.428	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			18	127	0	0	0	1	0	18	127					C	34635187	G	C	34635187	3	2	191	1	0	0	0	0	1	0	0	0	7545	933	33	4	1120	4	IFNAR2	21	34635187	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08		34635187	13494708	28	3391											
ZNF41	7592	broad.mit.edu	37	X	47308077	47308077	+	Silent	SNP	A	A	G			TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:47308077A>G	ENST00000377065.4	-	5	1731	c.1092T>C	c.(1090-1092)ttT>ttC	p.F364F	ZNF41_ENST00000313116.7_Silent_p.F364F|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.F374F	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	406					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)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATCTCTGGAAAAAGGCTTTTC	0.403																																						uc004dhs.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1216-1218)ttT>ttC		Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.							53	52	52					X																	47308077		2203	4300	6503	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308077A>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1092T>C	X.37:g.47308077A>G			Somatic				ZNF41_uc004dhu.4_Silent_p.F398F|ZNF41_uc004dht.4_Silent_p.F278F|ZNF41_uc004dhv.4_Silent_p.F374F|ZNF41_uc004dhw.4_Silent_p.F366F|ZNF41_uc004dhy.4_Silent_p.F364F|ZNF41_uc004dhx.4_Silent_p.F364F|ZNF41_uc011mlm.2_Silent_p.F278F	p.F406F	NM_153380	NP_700359	WXS	Illumina GAIIx	Phase_I	P51814	ZNF41_HUMAN			3	1285	-		all_lung(315;0.000129)	406					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.1218T>C	CCDS14279.1																																																																																				0.403	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		23	44	0	0	0	1	0	23	44					G	47308077	A	G	47308077	2	3	191	1	0	0	0	0	0	0	0	1	17886	11	1	3		3	ZNF41	23	47308077	Silent	SNP	A	TCGA-EL-A3H7-01A-11D-A21A-08		47308077	107962483	29	3392											
FAM120C	54954	broad.mit.edu	37	X	54209023	54209023	+	Missense_Mutation	SNP	G	G	T	rs144201658		TCGA-EL-A3H7-01A-11D-A21A-08	TCGA-EL-A3H7-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c8615-e53f-450b-9974-468904b63294	a54892b4-76e9-462a-a1c1-2495c9d2f8c9	g.chrX:54209023G>T	ENST00000375180.2	-	1	665	c.609C>A	c.(607-609)aaC>aaA	p.N203K	FAM120C_ENST00000477084.1_Missense_Mutation_p.N203K|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.N203K	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	203							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGTGCCCTTGTTGCCCACGT	0.706																																						uc004dsz.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(607-609)aaC>aaA		Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.			LYS/ASN,LYS/ASN	1,3829		0,1,1631,566	31	24	26		609,609	2.7	1.0	X	dbSNP_134	26	0,6714		0,0,2424,1866	no	missense,missense	FAM120C	NM_017848.4,NM_198456.1	94,94	0,1,4055,2432	TT,TG,GG,G		0.0,0.0261,0.0095	benign,benign	203/1097,203/239	54209023	1,10543	2198	4290	6488	SO:0001583	missense	54954							g.chrX:54209023G>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.609C>A	X.37:g.54209023G>T	ENSP00000364324:p.Asn203Lys		Somatic				FAM120C_uc011moh.2_Missense_Mutation_p.N203K|FAM120C_uc004dta.2_Missense_Mutation_p.N203K	p.N203K	NM_017848	NP_060318	WXS	Illumina GAIIx	Phase_I	Q9NX05	F120C_HUMAN			0	692	-			203					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.609C>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	g	14.76	2.632612	0.47049	2.61E-4	0.0	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.48201	0.82;0.82;0.82	3.62	2.66	0.31614	.	0.510568	0.20852	N	0.084506	T	0.32585	0.0834	L	0.43152	1.355	0.35836	D	0.825642	P;B;B	0.34462	0.454;0.005;0.292	B;B;B	0.32805	0.137;0.008;0.153	T	0.27938	-1.0059	10	0.22109	T	0.4	.	6.0588	0.19826	0.1211:0.1937:0.6852:0.0	.	203;203;203	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	K	203	ENSP00000364324:N203K;ENSP00000329896:N203K;ENSP00000420718:N203K	ENSP00000329896:N203K	N	-	3	2	FAM120C	54225748	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.087000	0.57671	1.811000	0.52892	0.513000	0.50165	AAC		0.706	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		20	39	0	0	0	1	0	20	39					T	54209023	G	T	54209023	3	4	191	1	0	0	0	0	1	0	0	0	5418	1368	48	4	2767	4	FAM120C	23	54209023	Missense_Mutation	SNP	G	TCGA-EL-A3H7-01A-11D-A21A-08	6900946	54209023	101061537	30	3393											
CACNA1E	777	broad.mit.edu	37	1	181735734	181735734	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:181735734T>C	ENST00000367573.2	+	35	4868	c.4868T>C	c.(4867-4869)aTc>aCc	p.I1623T	CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1623T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1604T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1230T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1574T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1555T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1604T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1623					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTTATGCCATCATTGGGATG	0.478																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4867-4869)aTc>aCc		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							143	126	131					1																	181735734		1919	4138	6057	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181735734T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4868T>C	1.37:g.181735734T>C	ENSP00000356545:p.Ile1623Thr		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.I1623T|CACNA1E_uc009wxs.3_Missense_Mutation_p.I1604T|CACNA1E_uc001gox.1_Missense_Mutation_p.I849T	p.I1623T	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			34	5063	+			1623					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4868T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629600	0.87660	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26	5.56	5.56	0.83823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.93106	3.38	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.80764	0.984;0.994;0.99	D	0.98934	1.0788	10	0.87932	D	0	.	15.3885	0.74723	0.0:0.0:0.0:1.0	.	1604;1623;1623	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	T	1623;1604;1574;1555;1230;1604;1623	ENSP00000356542:I1623T;ENSP00000434814:I1604T;ENSP00000350183:I1574T;ENSP00000351101:I1555T;ENSP00000356539:I1230T;ENSP00000353222:I1604T;ENSP00000356545:I1623T	ENSP00000350183:I1574T	I	+	2	0	CACNA1E	180002357	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.887000	0.87295	2.118000	0.64928	0.533000	0.62120	ATC		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		10	9	0	0	0	1	0	10	9					C	181735734	T	C	181735734	3	2	192	1	0	0	0	0	1	0	0	0	2542	1435	50	3	5006	3	CACNA1E	1	181735734	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08		181735734	67514887	1	3394											
SNAP47	116841	broad.mit.edu	37	1	227935556	227935556	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:227935556G>A	ENST00000366759.4	+	2	668	c.254G>A	c.(253-255)aGc>aAc	p.S85N	SNAP47_ENST00000315781.5_Missense_Mutation_p.S85N|SNAP47_ENST00000366760.1_Intron|SNAP47-AS1_ENST00000413347.2_RNA	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	85				DST -> TRP (in Ref. 5; AAH01332). {ECO:0000305}.	long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATGACTGACAGCACTGGAGAG	0.527																																						uc001hrf.2																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(253-255)aGc>aAc		Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.							62	55	58					1																	227935556		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935556G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.254G>A	1.37:g.227935556G>A	ENSP00000355721:p.Ser85Asn		Somatic				SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.S85N|SNAP47_uc001hre.3_Intron	p.S85N	NM_053052	NP_444280	WXS	Illumina GAIIx	Phase_I	Q5SQN1	SNP47_HUMAN			1	668	+			85	DST -> TRP (in Ref. 5; AAH01332).				B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.254G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	4.450	0.083409	0.08533	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.15603	2.41;2.41	4.08	1.79	0.24919	.	0.617332	0.17694	N	0.165165	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.29077	0.098;0.098	T	0.21930	-1.0231	10	0.40728	T	0.16	-13.8919	5.629	0.17499	0.6285:0.0:0.3715:0.0	.	85;85	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	N	85	ENSP00000355721:S85N;ENSP00000314157:S85N	ENSP00000314157:S85N	S	+	2	0	SNAP47	226002179	1.000000	0.71417	0.001000	0.08648	0.029000	0.11900	2.933000	0.48948	0.207000	0.20607	0.591000	0.81541	AGC		0.527	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		3	37	0	0	0	1	0	3	37					A	227935556	G	A	227935556	3	1	192	1	0	0	0	0	1	0	0	0	14832	971	34	2	260	2	SNAP47	1	227935556	Missense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08	46199822	227935556	21315065	2	3395											
LRP1B	53353	broad.mit.edu	37	2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					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)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			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.(9190-9192)Cga>Tga		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							93	95	94					2																	141245239		2203	4292	6495	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245239G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9190C>T	2.37:g.141245239G>A	ENSP00000374135:p.Arg3064*	TSP Lung(27;0.18)	Somatic					p.R3064*	NM_018557	NP_061027	WXS	Illumina GAIIx	Phase_I	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)	57	10162	-		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)	3064					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9190C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	55	24.185479	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.77	1.45	0.22620	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.9117	0.41411	0.0797:0.0:0.2109:0.7094	.	.	.	.	X	3064;3002	.	ENSP00000374135:R3064X	R	-	1	2	LRP1B	140961709	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.054000	0.49908	0.264000	0.21851	0.650000	0.86243	CGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	86	0	0	0	1	0	6	86					A	141245239	G	A	141245239	4	1	192	1	0	0	0	0	0	1	0	0	8955	1124	39	1	4745	1	LRP1B	2	141245239	Nonsense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		141245239	101954134	3	3396											
UROC1	131669	broad.mit.edu	37	3	126226844	126226844	+	Missense_Mutation	SNP	C	C	T	rs369545977		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr3:126226844C>T	ENST00000290868.2	-	5	559	c.506G>A	c.(505-507)cGc>cAc	p.R169H	UROC1_ENST00000383579.3_Missense_Mutation_p.R169H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	169					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGGGCACTGCGGCTGCTGGG	0.597																																						uc010hsi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(505-507)cGc>cAc		Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	75	74		506,506	3.0	0.6	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	169/737,169/677	126226844	1,13005	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126226844C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.506G>A	3.37:g.126226844C>T	ENSP00000290868:p.Arg169His		Somatic				UROC1_uc003eiz.2_Missense_Mutation_p.R169H	p.R169H	NM_001165974	NP_001159446	WXS	Illumina GAIIx	Phase_I	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	4	560	-			169					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.506G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970815	0.34754	0.0	1.16E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.43688	0.94;0.94	3.91	3.03	0.35002	Urocanase domain (2);	0.239792	0.42682	D	0.000665	T	0.44498	0.1296	M	0.72118	2.19	0.19575	N	0.999968	P;P	0.46512	0.832;0.879	B;B	0.43623	0.213;0.425	T	0.44283	-0.9338	10	0.87932	D	0	-9.3888	11.3057	0.49334	0.0:0.1976:0.8024:0.0	.	169;169	E9PE13;Q96N76	.;HUTU_HUMAN	H	169	ENSP00000290868:R169H;ENSP00000373073:R169H	ENSP00000290868:R169H	R	-	2	0	UROC1	127709534	0.954000	0.32549	0.601000	0.28877	0.033000	0.12548	1.450000	0.35134	0.979000	0.38497	-0.340000	0.08031	CGC		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		13	153	0	0	0	1	0	13	153					T	126226844	C	T	126226844	3	4	192	1	0	0	0	0	1	0	0	0	17025	768	27	1	1772	1	UROC1	3	126226844	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		126226844	71795586	4	3397											
BRIX1	55299	broad.mit.edu	37	5	34922857	34922857	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:34922857T>C	ENST00000336767.5	+	6	857	c.494T>C	c.(493-495)cTt>cCt	p.L165P	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	165	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCTCGGCCCCTTTTGTCTTTT	0.343																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(493-495)cTt>cCt		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							104	110	108					5																	34922857		2203	4300	6503	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding	g.chr5:34922857T>C		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.494T>C	5.37:g.34922857T>C	ENSP00000338862:p.Leu165Pro		Somatic				BRIX1_uc011col.1_Missense_Mutation_p.L165P	p.L165P	NM_018321	NP_060791	WXS	Illumina GAIIx	Phase_I	Q8TDN6	BRX1_HUMAN			5	518	+			165			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.494T>C	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448690	0.84101	.	.	ENSG00000113460	ENST00000336767	T	0.28454	1.61	6.16	6.16	0.99307	Brix domain (3);Anticodon-binding (1);	0.060328	0.64402	D	0.000002	T	0.63058	0.2479	M	0.89601	3.045	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.66351	0.943;0.925	T	0.70461	-0.4865	10	0.66056	D	0.02	-21.2046	16.8061	0.85666	0.0:0.0:0.0:1.0	.	165;165	B4E0B8;Q8TDN6	.;BRX1_HUMAN	P	165	ENSP00000338862:L165P	ENSP00000338862:L165P	L	+	2	0	BRIX1	34958614	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.552000	0.82192	2.367000	0.80283	0.528000	0.53228	CTT		0.343	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		3	160	0	0	0	1	0	3	160					C	34922857	T	C	34922857	3	2	192	1	0	0	0	0	1	0	0	0	1515	1609	56	3	516	3	BRIX1	5	34922857	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08		34922857	145992403	5	3398											
EBF1	1879	broad.mit.edu	37	5	158141175	158141175	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:158141175T>C	ENST00000313708.6	-	12	1423	c.1141A>G	c.(1141-1143)Agg>Ggg	p.R381G	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R350G|EBF1_ENST00000517373.1_Missense_Mutation_p.R373G	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	381					multicellular organismal development (GO:0007275)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGCAGCCCTTTTGAGTATT	0.478			T	HMGA2	lipoma																																	uc011ddx.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0		p.R381M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1144-1146)Agg>Ggg		Homo sapiens early B-cell factor 1 (EBF1), mRNA.							220	209	213					5																	158141175		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158141175T>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1141A>G	5.37:g.158141175T>C	ENSP00000322898:p.Arg381Gly		Somatic				EBF1_uc011ddw.2_Missense_Mutation_p.R249G|EBF1_uc010jip.3_Missense_Mutation_p.R381G|EBF1_uc003lxl.4_Missense_Mutation_p.R350G	p.R382G	NM_024007	NP_076870	WXS	Illumina GAIIx	Phase_I	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1446	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	381					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1144A>G	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855367	0.51376	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.43294	0.95;0.95;0.95	5.76	4.55	0.56014	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.85859	2.78	0.52501	D	0.999953	D;D;B;D	0.89917	1.0;0.997;0.347;1.0	D;D;B;D	0.97110	0.999;0.973;0.229;1.0	T	0.72623	-0.4237	10	0.66056	D	0.02	-6.607	13.3023	0.60332	0.0:0.0:0.226:0.774	.	381;368;381;350	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	G	381;381;350;373	ENSP00000322898:R381G;ENSP00000370029:R350G;ENSP00000428020:R373G	ENSP00000322898:R381G	R	-	1	2	EBF1	158073753	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	2.184000	0.42575	2.191000	0.70037	0.533000	0.62120	AGG		0.478	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		4	256	0	0	0	1	0	4	256					C	158141175	T	C	158141175	3	2	192	1	0	0	0	0	1	0	0	0	4880	1608	56	3	654	3	EBF1	5	158141175	Missense_Mutation	SNP	T	TCGA-EL-A3H8-01A-11D-A20C-08	123218318	158141175	22774085	6	3399											
E2F3	1871	broad.mit.edu	37	6	20402610	20402610	+	Silent	SNP	C	C	T			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741																																						uc003nda.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(145-147)gcC>gcT		Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.							14	21	18					6																	20402610		2127	4171	6298	SO:0001819	synonymous_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402610C>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.147C>T	6.37:g.20402610C>T			Somatic				E2F3_uc003ncz.2_Silent_p.A49A|E2F3_uc021ymj.1_5'Flank	p.A49A	NM_001949	NP_001940	WXS	Illumina GAIIx	Phase_I	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		0	474	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		49			Poly-Ala.		Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	c.147C>T	CCDS4545.1																																																																																				0.741	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			3	48	0	0	0	1	0	3	48					T	20402610	C	T	20402610	2	4	192	1	0	0	0	0	0	0	0	1	4868	639	23	1		1	E2F3	6	20402610	Silent	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		20402610	150712457	7	3400											
TDRD6	221400	broad.mit.edu	37	6	46658465	46658465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:46658465C>A	ENST00000316081.6	+	1	2600	c.2600C>A	c.(2599-2601)tCa>tAa	p.S867*	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.S867*|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	867	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATATTTATTCAATTAGTGAA	0.368																																						uc003oyj.3																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2599-2601)tCa>tAa		Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.							76	83	80					6																	46658465		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658465C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2600C>A	6.37:g.46658465C>A	ENSP00000346065:p.Ser867*		Somatic				TDRD6_uc010jze.3_Nonsense_Mutation_p.S867*	p.S867*	NM_001010870	NP_001010870	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		0	2854	+			867			Tudor 4.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.2600C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	39	7.417118	0.98272	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.75	4.88	0.63580	.	0.988332	0.08273	N	0.971158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3511	10.204	0.43101	0.0:0.7928:0.136:0.0712	.	.	.	.	X	867	.	ENSP00000346065:S867X	S	+	2	0	TDRD6	46766424	0.083000	0.21467	0.057000	0.19452	0.995000	0.86356	1.813000	0.38962	1.429000	0.47314	0.655000	0.94253	TCA		0.368	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	94	0	0	0	1	0	4	94					A	46658465	C	A	46658465	4	1	192	1	0	0	0	0	0	1	0	0	15731	838	29	4	2602	4	TDRD6	6	46658465	Nonsense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	26255855	46658465	124456602	8	3401											
C1GALT1	56913	broad.mit.edu	37	7	7283195	7283195	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:7283195A>G	ENST00000223122.3	+	3	991	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	C1GALT1_ENST00000436587.2_Missense_Mutation_p.Y310C			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	310					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCTTTTCACTATGTTGATTCT	0.353																																						uc003srb.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(928-930)tAt>tGt		Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.							186	178	180					7																	7283195		2203	4300	6503	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283195A>G	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.929A>G	7.37:g.7283195A>G	ENSP00000223122:p.Tyr310Cys		Somatic				C1GALT1_uc003sra.3_Missense_Mutation_p.Y310C	p.Y310C	NM_020156	NP_064541	WXS	Illumina GAIIx	Phase_I	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	1152	+			310					Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.929A>G	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959809	0.74016	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.63255	-0.03;-0.03	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.80746	2.51	0.80722	D	1	D	0.62365	0.991	D	0.67725	0.953	T	0.82032	-0.0658	10	0.62326	D	0.03	-24.1183	15.1931	0.73063	1.0:0.0:0.0:0.0	.	310	Q9NS00	C1GLT_HUMAN	C	310	ENSP00000389176:Y310C;ENSP00000223122:Y310C	ENSP00000223122:Y310C	Y	+	2	0	C1GALT1	7249720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.242000	0.95408	2.130000	0.65690	0.533000	0.62120	TAT		0.353	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		5	160	0	0	0	1	0	5	160					G	7283195	A	G	7283195	3	3	192	1	0	0	0	0	1	0	0	0	1952	449	16	3	939	3	C1GALT1	7	7283195	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08		7283195	151855468	9	3402											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	60	0	0	0	1	0	31	60					T	140453136	A	T	140453136	3	4	192	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08	133169941	140453136	18685527	10	3403											
ANKRD42	338699	broad.mit.edu	37	11	82935987	82935987	+	Missense_Mutation	SNP	A	A	G	rs376999354	byFrequency	TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr11:82935987A>G	ENST00000393392.2	+	6	755	c.593A>G	c.(592-594)aAt>aGt	p.N198S	ANKRD42_ENST00000531895.1_Missense_Mutation_p.N226S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.N226S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.N225S	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	198			N -> D (in dbSNP:rs17515016).		positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAAGCTTTCAATGATAATGGA	0.423													A|||	3	0.000599042	8e-04	0.0014	5008	,	,		12958	0		0.001	False		,,,				2504	0					uc010rsv.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(676-678)aAt>aGt		Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.		A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	105	108	107		593	5.7	1.0	11		107	0,8600		0,0,4300	no	missense	ANKRD42	NM_182603.2	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	198/390	82935987	1,13005	2203	4300	6503	SO:0001583	missense	338699							g.chr11:82935987A>G	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.593A>G	11.37:g.82935987A>G	ENSP00000377051:p.Asn198Ser		Somatic				ANKRD42_uc001ozz.1_Missense_Mutation_p.N198S|ANKRD42_uc001paa.3_Missense_Mutation_p.N226S|ANKRD42_uc001pab.1_Missense_Mutation_p.N225S	p.N226S			WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			5	1099	+			198					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.677A>G	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176202	0.78564	2.27E-4	0.0	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000004	T	0.38692	0.1050	L	0.61036	1.89	0.41734	D	0.989572	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.74674	0.939;0.91;0.91;0.984	T	0.09037	-1.0693	9	.	.	.	-12.6792	14.8967	0.70649	1.0:0.0:0.0:0.0	.	226;490;317;198	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	S	545;225;226;198;226	ENSP00000260047:N225S;ENSP00000434666:N226S;ENSP00000377051:N198S;ENSP00000435790:N226S	.	N	+	2	0	ANKRD42	82613635	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.289000	0.72696	2.154000	0.67381	0.533000	0.62120	AAT		0.423	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		48	74	0	0	0	1	0	48	74					G	82935987	A	G	82935987	3	3	192	1	0	0	0	0	1	0	0	0	670	101	4	3	615	3	ANKRD42	11	82935987	Missense_Mutation	SNP	A	TCGA-EL-A3H8-01A-11D-A20C-08		82935987	52070529	11	3404											
RASGRP1	10125	broad.mit.edu	37	15	38791143	38791143	+	Silent	SNP	G	G	A	rs374227836		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000539159.1_Silent_p.C527C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468																																						uc001zke.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1723-1725)tgC>tgT		Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.		G	,	0,3850		0,0,1925	260	251	254		1620,1725	-10.2	0.7	15		254	1,8293		0,1,4146	no	coding-synonymous,coding-synonymous	RASGRP1	NM_001128602.1,NM_005739.3	,	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	,	540/763,575/798	38791143	1,12143	1925	4147	6072	SO:0001819	synonymous_variant	10125				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791143G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1725C>T	15.37:g.38791143G>A			Somatic				RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Silent_p.C402C|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Silent_p.C540C	p.C575C	NM_005739	NP_005730	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	14	1903	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	575					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.1725C>T	CCDS45222.1																																																																																				0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		5	387	0	0	0	1	0	5	387					A	38791143	G	A	38791143	2	1	192	1	0	0	0	0	0	0	0	1	13074	1079	38	1		1	RASGRP1	15	38791143	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		38791143	63740249	12	3405											
MRPL46	26589	broad.mit.edu	37	15	89010506	89010506	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:89010506C>A	ENST00000312475.4	-	1	144	c.103G>T	c.(103-105)Gca>Tca	p.A35S	MRPS11_ENST00000325844.4_5'Flank|MRPS11_ENST00000353598.6_5'Flank|MRPL46_ENST00000559538.1_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	35						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGTGCGGCTGCAAGAGCCAGG	0.677																																						uc002bmj.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(103-105)Gca>Tca		Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.							28	30	29					15																	89010506		2201	4299	6500	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89010506C>A	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"Mitochondrial ribosomal proteins / large subunits"	1192	protein-coding gene	gene with protein product		611851	"chromosome 15 open reading frame 4"	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.103G>T	15.37:g.89010506C>A	ENSP00000312311:p.Ala35Ser		Somatic				MRPL46_uc002bmi.1_5'Flank|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	p.A35S	NM_022163	NP_071446	WXS	Illumina GAIIx	Phase_I	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		0	128	-	Lung NSC(78;0.203)		35					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.103G>T	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264730	0.59431	.	.	ENSG00000173867	ENST00000312475	T	0.42513	0.97	5.07	0.847	0.18961	.	0.408254	0.27147	N	0.020710	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.16100	-1.0414	10	0.08837	T	0.75	.	2.5944	0.04850	0.1507:0.5384:0.146:0.165	.	35	Q9H2W6	RM46_HUMAN	S	35	ENSP00000312311:A35S	ENSP00000312311:A35S	A	-	1	0	MRPL46	86811510	0.000000	0.05858	0.014000	0.15608	0.029000	0.11900	0.651000	0.24873	0.300000	0.22699	0.655000	0.94253	GCA		0.677	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		3	15	0	0	0	1	0	3	15					A	89010506	C	A	89010506	3	1	192	1	0	0	0	0	1	0	0	0	9810	710	25	4	752	4	MRPL46	15	89010506	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	50219363	89010506	13520886	13	3406											
DNAH2	146754	broad.mit.edu	37	17	7736520	7736520	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:7736520C>A	ENST00000572933.1	+	85	14570	c.13110C>A	c.(13108-13110)agC>agA	p.S4370R	DNAH2_ENST00000389173.2_Missense_Mutation_p.S4370R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4370					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(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)				CTGCAGAGAGCCGCAAGAAGA	0.622																																						uc002giu.1																			0				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.(13108-13110)agC>agA		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							35	36	35					17																	7736520		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.chr17:7736520C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13110C>A	17.37:g.7736520C>A	ENSP00000458355:p.Ser4370Arg		Somatic					p.S4370R	NM_020877	NP_065928	WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			83	13124	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4370					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13110C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783103	0.16189	.	.	ENSG00000183914	ENST00000389173	T	0.08282	3.11	3.9	-0.377	0.12501	Dynein heavy chain (1);	0.191020	0.45361	D	0.000378	T	0.04724	0.0128	N	0.21448	0.665	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.43589	-0.9382	10	0.15066	T	0.55	.	8.7406	0.34556	0.0:0.628:0.0:0.372	.	4370	Q9P225	DYH2_HUMAN	R	4370	ENSP00000373825:S4370R	ENSP00000373825:S4370R	S	+	3	2	DNAH2	7677245	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.558000	0.23469	0.100000	0.17581	0.484000	0.47621	AGC		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	49	0	0	0	1	0	6	49					A	7736520	C	A	7736520	3	1	192	1	0	0	0	0	1	0	0	0	4602	738	26	4	13444	4	DNAH2	17	7736520	Missense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08		7736520	73458690	14	3407											
MTMR4	9110	broad.mit.edu	37	17	56572506	56572506	+	Silent	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:56572506G>A	ENST00000323456.5	-	16	3121	c.2997C>T	c.(2995-2997)aaC>aaT	p.N999N	MTMR4_ENST00000579925.1_Silent_p.N942N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	999					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAAGGGCAGTTCAGTGGAA	0.507																																						uc002iwj.2																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(2995-2997)aaC>aaT		Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.							207	191	196					17																	56572506		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572506G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2997C>T	17.37:g.56572506G>A			Somatic					p.N999N	NM_004687	NP_004678	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			15	3107	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		999					D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.2997C>T	CCDS11608.1																																																																																				0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		5	259	0	0	0	1	0	5	259					A	56572506	G	A	56572506	2	1	192	1	0	0	0	0	0	0	0	1	9946	1020	36	2		2	MTMR4	17	56572506	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08	48835986	56572506	24622704	15	3408											
CCDC45	90799	broad.mit.edu	37	17	62512852	62512852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:62512852C>T	ENST00000556440.2	+	5	889	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	CEP95_ENST00000553412.1_Intron	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	127						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TGAAACTGAACAGTATTTTAA	0.368																																						uc002jem.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(379-381)Cag>Tag		Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.							109	99	102					17																	62512852		1817	4070	5887	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62512852C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.379C>T	17.37:g.62512852C>T	ENSP00000450461:p.Gln127*		Somatic				CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Intron	p.Q127*	NM_138363	NP_612372	WXS	Illumina GAIIx	Phase_I	Q96GE4	CEP95_HUMAN			4	437	+			127					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.379C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024294	0.75390	.	.	ENSG00000258890	ENST00000556440	.	.	.	5.1	1.91	0.25777	.	0.786112	0.12366	N	0.475250	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.8718	8.6425	0.33985	0.1637:0.52:0.3163:0.0	.	.	.	.	X	127	.	ENSP00000437744:Q127X	Q	+	1	0	CEP95	59943314	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.297000	0.19101	0.380000	0.24823	-1.067000	0.02272	CAG		0.368	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		13	29	0	0	0	1	0	13	29					T	62512852	C	T	62512852	4	4	192	1	0	0	0	0	0	1	0	0	2816	479	17	2	397	2	CCDC45	17	62512852	Nonsense_Mutation	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	5940346	62512852	18682358	16	3409											
ZNF446	55663	broad.mit.edu	37	19	58992084	58992084	+	Silent	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr19:58992084G>A	ENST00000594369.1	+	7	1725	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E	ZNF446_ENST00000335841.4_3'UTR|ZNF446_ENST00000596341.1_Silent_p.E397E	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	448					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)			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)		ACCGGCCGGAGGTTCCATGAG	0.657																																						uc002qsz.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(1342-1344)gaG>gaA		Homo sapiens zinc finger protein 446 (ZNF446), mRNA.							28	31	30					19																	58992084		2184	4250	6434	SO:0001819	synonymous_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58992084G>A		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1344G>A	19.37:g.58992084G>A			Somatic				ZNF446_uc002qta.3_3'UTR|ZNF446_uc010eur.3_3'UTR|SLC27A5_uc002qtb.3_Non-coding_Transcript	p.E448E	NM_017908	NP_060378	WXS	Illumina GAIIx	Phase_I	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	6	1461	+		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)	448						Silent	SNP	ENST00000594369.1	37	c.1344G>A	CCDS12982.1																																																																																				0.657	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		4	99	0	0	0	1	0	4	99					A	58992084	G	A	58992084	2	1	192	1	0	0	0	0	0	0	0	1	17916	991	35	2		2	ZNF446	19	58992084	Silent	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		58992084	136899	17	3410											
PLP1	5354	broad.mit.edu	37	X	103042754	103042754	+	Missense_Mutation	SNP	G	G	A	rs11543023		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:103042754G>A	ENST00000303958.2	+	4	627	c.481G>A	c.(481-483)Gtt>Att	p.V161I	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Missense_Mutation_p.V161I|PLP1_ENST00000361621.2_Missense_Mutation_p.V126I	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	161			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TGCCCTGACCGTTGTGTGGCT	0.507																																						uc010nov.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(481-483)Gtt>Att		Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.							265	180	209					X																	103042754		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103042754G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.481G>A	X.37:g.103042754G>A	ENSP00000305152:p.Val161Ile		Somatic				RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.V161I|PLP1_uc004elj.3_Missense_Mutation_p.V126I|PLP1_uc011msf.2_Missense_Mutation_p.V106I|PLP1_uc010nox.3_Missense_Mutation_p.V115I	p.V161I	NM_001128834	NP_001122306	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			4	761	+			161		Missing (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.481G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	4.630	0.117101	0.08881	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99252	-5.63;-5.63;-5.63	5.73	-2.0	0.07433	.	0.630262	0.17318	N	0.178635	D	0.95017	0.8387	N	0.12502	0.225	0.25863	N	0.983802	B;B;B;B	0.18461	0.004;0.001;0.001;0.028	B;B;B;B	0.15052	0.001;0.002;0.002;0.012	D	0.89255	0.3593	10	0.07644	T	0.81	-6.9567	11.153	0.48471	0.5962:0.0:0.4038:0.0	rs11543023;rs11543023	106;161;161;126	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	I	161;161;126;139	ENSP00000405750:V161I;ENSP00000305152:V161I;ENSP00000354860:V126I	ENSP00000305152:V161I	V	+	1	0	PLP1	102929410	0.808000	0.29022	0.959000	0.39883	0.996000	0.88848	0.400000	0.20932	-0.297000	0.08934	0.600000	0.82982	GTT		0.507	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			5	230	0	0	0	1	0	5	230					A	103042754	G	A	103042754	3	1	192	1	0	0	0	0	1	0	0	0	12104	1145	40	1	495	1	PLP1	23	103042754	Missense_Mutation	SNP	G	TCGA-EL-A3H8-01A-11D-A20C-08		103042754	52227806	18	3411											
FUNDC2	65991	broad.mit.edu	37	X	154282927	154282927	+	Silent	SNP	C	C	T			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:154282927C>T	ENST00000369498.3	+	5	804	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L184V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448																																						uc004fmw.3																			1	Substitution - Missense(1)	p.L184V(2)|p.L184L(1)	breast(1)	breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(550-552)Ctg>Ttg		Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.							149	137	141					X																	154282927		2203	4300	6503	SO:0001819	synonymous_variant	65991					mitochondrion		g.chrX:154282927C>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.550C>T	X.37:g.154282927C>T			Somatic					p.L184L	NM_023934	NP_076423	WXS	Illumina GAIIx	Phase_I	Q9BWH2	FUND2_HUMAN			4	700	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		184					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	ENST00000369498.3	37	c.550C>T	CCDS14763.1																																																																																				0.448	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		11	253	0	0	0	1	0	11	253					T	154282927	C	T	154282927	2	4	192	1	0	0	0	0	0	0	0	1	6098	912	32	2		2	FUNDC2	23	154282927	Silent	SNP	C	TCGA-EL-A3H8-01A-11D-A20C-08	51240173	154282927	987633	19	3412											
VIL1	7429	broad.mit.edu	37	2	219299353	219299353	+	Silent	SNP	G	G	A			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr2:219299353G>A	ENST00000248444.5	+	14	1693	c.1605G>A	c.(1603-1605)gcG>gcA	p.A535A	VIL1_ENST00000392114.2_Silent_p.A224A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	535	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCCCAGCGCGGGCCAATT	0.567																																						uc002via.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1603-1605)gcG>gcA		Homo sapiens villin 1 (VIL1), mRNA.							104	105	105					2																	219299353		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219299353G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1605G>A	2.37:g.219299353G>A			Somatic				VIL1_uc010zke.2_Silent_p.A224A|VIL1_uc002vib.3_Silent_p.A535A	p.A535A	NM_007127	NP_009058	WXS	Illumina GAIIx	Phase_I	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1670	+		Renal(207;0.0474)	535			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.1605G>A	CCDS2417.1																																																																																				0.567	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		4	118	0	0	0	1	0	4	118					A	219299353	G	A	219299353	2	1	193	1	0	0	0	0	0	0	0	1	17161	1074	38	1		1	VIL1	2	219299353	Silent	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		219299353	23900020	1	3413											
PGM2	55276	broad.mit.edu	37	4	37836265	37836265	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr4:37836265A>G	ENST00000381967.4	+	3	375	c.275A>G	c.(274-276)cAa>cGa	p.Q92R	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	92					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTGGAAAAACAATTCAGTGAC	0.343																																						uc011byb.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(274-276)cAa>cGa		Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.							95	106	102					4																	37836265		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37836265A>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.275A>G	4.37:g.37836265A>G	ENSP00000371393:p.Gln92Arg		Somatic				PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron	p.Q92R	NM_018290	NP_060760	WXS	Illumina GAIIx	Phase_I	Q96G03	PGM2_HUMAN			2	348	+			92					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.275A>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758996	0.31137	.	.	ENSG00000169299	ENST00000381967	T	0.50548	0.74	6.05	4.83	0.62350	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.511760	0.22952	N	0.053656	T	0.34513	0.0900	L	0.35542	1.07	0.21290	N	0.999732	B	0.11235	0.004	B	0.16722	0.016	T	0.11891	-1.0569	10	0.22706	T	0.39	-4.1688	9.7856	0.40675	0.8028:0.1291:0.068:0.0	.	92	Q96G03	PGM2_HUMAN	R	92	ENSP00000371393:Q92R	ENSP00000371393:Q92R	Q	+	2	0	PGM2	37512660	0.999000	0.42202	0.679000	0.29978	0.744000	0.42396	3.346000	0.52190	2.320000	0.78422	0.528000	0.53228	CAA		0.343	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		88	112	0	0	0	1	0	88	112					G	37836265	A	G	37836265	3	3	193	1	0	0	0	0	1	0	0	0	11798	130	5	3	285	3	PGM2	4	37836265	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08		37836265	153318011	2	3414											
TMEM63B	55362	broad.mit.edu	37	6	44119647	44119647	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr6:44119647G>T	ENST00000259746.9	+	19	1921	c.1738G>T	c.(1738-1740)Ggc>Tgc	p.G580C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.G580C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	580					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGCCTTTATCGGCAACGCCAT	0.642											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owr.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(1738-1740)Ggc>Tgc		Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.							111	80	91					6																	44119647		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119647G>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1738G>T	6.37:g.44119647G>T	ENSP00000259746:p.Gly580Cys		Somatic	OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_uc003ows.3_Missense_Mutation_p.G483C|TMEM63B_uc010jyz.3_Non-coding_Transcript	p.G580C	NM_018426	NP_060896	WXS	Illumina GAIIx	Phase_I	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		18	1802	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		580					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1738G>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198558	0.94997	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.35605	1.3;1.3	5.01	5.01	0.66863	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71411	-0.4601	10	0.87932	D	0	.	17.4887	0.87696	0.0:0.0:1.0:0.0	.	580	Q5T3F8	TM63B_HUMAN	C	580	ENSP00000259746:G580C;ENSP00000327154:G580C	ENSP00000259746:G580C	G	+	1	0	TMEM63B	44227625	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.578000	0.98200	2.618000	0.88619	0.460000	0.39030	GGC		0.642	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		55	58	0	0	0	1	0	55	58					T	44119647	G	T	44119647	3	4	193	1	0	0	0	0	1	0	0	0	16188	1116	39	4	1808	4	TMEM63B	6	44119647	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		44119647	126995420	3	3415											
ZCWPW1	55063	broad.mit.edu	37	7	100014704	100014704	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr7:100014704G>A	ENST00000398027.2	-	6	711	c.464C>T	c.(463-465)aCt>aTt	p.T155I	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.T34I|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.T34I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.T155I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	155							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCATTATCAGTATCAGTAGC	0.433																																						uc003uut.3																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(463-465)aCt>aTt		Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.							160	149	153					7																	100014704		1925	4135	6060	SO:0001583	missense	55063						zinc ion binding	g.chr7:100014704G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.464C>T	7.37:g.100014704G>A	ENSP00000381109:p.Thr155Ile		Somatic				ZCWPW1_uc011kjq.2_Missense_Mutation_p.T34I|ZCWPW1_uc003uur.3_Missense_Mutation_p.T34I|ZCWPW1_uc003uus.3_Missense_Mutation_p.T34I|ZCWPW1_uc011kjr.2_Missense_Mutation_p.T154I|ZCWPW1_uc003uuu.1_Missense_Mutation_p.T154I	p.T155I	NM_017984	NP_060454	WXS	Illumina GAIIx	Phase_I	Q9H0M4	ZCPW1_HUMAN			5	712	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		155					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.464C>T	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	2.874	-0.233407	0.05983	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.45276	0.92;0.93;0.9;0.93	3.78	1.32	0.21799	.	0.437334	0.19518	N	0.112358	T	0.21674	0.0522	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P	0.44521	0.837;0.627;0.627;0.627;0.744	B;B;B;B;B	0.38327	0.193;0.139;0.139;0.139;0.271	T	0.09185	-1.0686	9	.	.	.	-4.2503	4.2096	0.10505	0.1967:0.0:0.2274:0.5759	.	155;115;156;155;34	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	I	155;34;155;34;156	ENSP00000381109:T155I;ENSP00000419187:T34I;ENSP00000354210:T155I;ENSP00000314880:T34I	.	T	-	2	0	ZCWPW1	99852640	0.803000	0.28956	0.026000	0.17262	0.070000	0.16714	0.593000	0.23999	0.274000	0.22072	-0.425000	0.05940	ACT		0.433	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		12	266	0	0	0	1	0	12	266					A	100014704	G	A	100014704	3	1	193	1	0	0	0	0	1	0	0	0	17594	1029	36	2	1534	2	ZCWPW1	7	100014704	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08		100014704	59123959	4	3416											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	44	0	0	0	1	0	30	44					T	140453136	A	T	140453136	3	4	193	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	40438432	140453136	18685527	5	3417											
GIT2	9815	broad.mit.edu	37	12	110433982	110433982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr12:110433982delC	ENST00000355312.3	-	1	47	c.48delG	c.(46-48)gggfs	p.G16fs	GIT2_ENST00000354574.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000320063.9_Frame_Shift_Del_p.G16fs|GIT2_ENST00000553118.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000361006.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000457474.2_Frame_Shift_Del_p.G16fs|GIT2_ENST00000338373.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000547815.1_Frame_Shift_Del_p.G16fs|GIT2_ENST00000360185.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000356259.4_Frame_Shift_Del_p.G16fs|GIT2_ENST00000343646.5_Frame_Shift_Del_p.G16fs|GIT2_ENST00000551209.1_Frame_Shift_Del_p.G16fs	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	16	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ACTCACCCGGCCCGCTGCAGT	0.731																																						uc001tps.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(46-48)gggfs		Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.							5	6	6					12																	110433982		2004	3927	5931	SO:0001589	frameshift_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110433982delC	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.48delG	12.37:g.110433982delC	ENSP00000347464:p.Gly16fs		Somatic				GIT2_uc001tpq.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpv.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpu.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpt.2_Frame_Shift_Del_p.G16fs|GIT2_uc010sxu.1_5'UTR|GIT2_uc001tpw.3_Frame_Shift_Del_p.G16fs|GIT2_uc010sxv.1_Frame_Shift_Del_p.G16fs	p.G16fs	NM_057169	NP_476510	WXS	Illumina GAIIx	Phase_I	Q14161	GIT2_HUMAN			0	213	-			16			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Frame_Shift_Del	DEL	ENST00000355312.3	37	c.48delG	CCDS9138.1																																																																																				0.731	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		2	4						2	4	---	---	---	---	-	110433982	C	-	110433982	7	5	193	1	0	1	0	1	0	0	0	0	6397	726	26	0	2349	0	GIT2	12	110433982	Frame_Shift_Del	DEL	C	TCGA-EL-A3MW-01A-11D-A20C-08		110433982	23417913	6	3418											
KSR2	283455	broad.mit.edu	37	12	117962864	117962864	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr12:117962864A>T	ENST00000339824.5	-	14	2739	c.2012T>A	c.(2011-2013)cTc>cAc	p.L671H	KSR2_ENST00000425217.1_Missense_Mutation_p.L642H|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.L368H			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTCCAATGAGCTCGCCGAT	0.622																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1924-1926)cTc>cAc		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							60	65	64					12																	117962864		2091	4215	6306	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962864A>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2012T>A	12.37:g.117962864A>T	ENSP00000339952:p.Leu671His		Somatic					p.L642H	NM_173598	NP_775869	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			13	1980	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		671					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1925T>A		.	.	.	.	.	.	.	.	.	.	A	17.55	3.417667	0.62622	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.90069	-2.61;-2.61;-2.61	4.98	3.83	0.44106	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059483	0.64402	D	0.000002	D	0.92071	0.7487	M	0.72624	2.21	0.43930	D	0.996583	D	0.63046	0.992	D	0.65323	0.934	D	0.90086	0.4174	10	0.34782	T	0.22	.	10.3954	0.44198	0.9234:0.0:0.0766:0.0	.	671	Q6VAB6	KSR2_HUMAN	H	642;671;368;343	ENSP00000389715:L642H;ENSP00000339952:L671H;ENSP00000305466:L368H	ENSP00000305466:L368H	L	-	2	0	KSR2	116447247	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	9.139000	0.94554	0.929000	0.37192	0.528000	0.53228	CTC		0.622	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		5	82	0	0	0	1	0	5	82					T	117962864	A	T	117962864	3	4	193	1	0	0	0	0	1	0	0	0	8582	304	11	5	868	5	KSR2	12	117962864	Missense_Mutation	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	7528882	117962864	15889031	7	3419											
EEF2K	29904	broad.mit.edu	37	16	22268620	22268620	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr16:22268620T>A	ENST00000263026.5	+	8	1289	c.815T>A	c.(814-816)gTg>gAg	p.V272E		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	272	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGCTGATAGTGGTGGACATC	0.557																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(814-816)gTg>gAg		Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.							141	118	126					16																	22268620		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268620T>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.815T>A	16.37:g.22268620T>A	ENSP00000263026:p.Val272Glu		Somatic				EEF2K_uc002dkh.3_Non-coding_Transcript	p.V272E	NM_013302	NP_037434	WXS	Illumina GAIIx	Phase_I	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	7	1300	+			272			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.815T>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	T	34	5.309043	0.95629	.	.	ENSG00000103319	ENST00000263026	T	0.25749	1.78	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.118831	0.56097	D	0.000032	T	0.64494	0.2603	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76391	-0.2976	10	0.87932	D	0	-16.495	16.2813	0.82687	0.0:0.0:0.0:1.0	.	272	O00418	EF2K_HUMAN	E	272	ENSP00000263026:V272E	ENSP00000263026:V272E	V	+	2	0	EEF2K	22176121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.493000	0.81493	2.244000	0.73946	0.533000	0.62120	GTG		0.557	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		6	157	0	0	0	1	0	6	157					A	22268620	T	A	22268620	3	1	193	1	0	0	0	0	1	0	0	0	4930	1696	59	5	841	5	EEF2K	16	22268620	Missense_Mutation	SNP	T	TCGA-EL-A3MW-01A-11D-A20C-08		22268620	68086133	8	3420											
CDYL2	124359	broad.mit.edu	37	16	80718510	80718510	+	Silent	SNP	A	A	G			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr16:80718510A>G	ENST00000570137.2	-	2	696	c.541T>C	c.(541-543)Ttg>Ctg	p.L181L	CDYL2_ENST00000562812.1_Silent_p.L181L|CDYL2_ENST00000566173.1_Silent_p.L181L|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Silent_p.L181L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	181						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGATCATTCAAATCCAAGCCA	0.512																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(541-543)Ttg>Ctg		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.							124	110	114					16																	80718510		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80718510A>G	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.541T>C	16.37:g.80718510A>G			Somatic					p.L181L	NM_152342	NP_689555	WXS	Illumina GAIIx	Phase_I	Q8N8U2	CDYL2_HUMAN			1	646	-			181					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.541T>C	CCDS32493.1																																																																																				0.512	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		3	113	0	0	0	1	0	3	113					G	80718510	A	G	80718510	2	3	193	1	0	0	0	0	0	0	0	1	3186	11	1	3		3	CDYL2	16	80718510	Silent	SNP	A	TCGA-EL-A3MW-01A-11D-A20C-08	58449890	80718510	9636243	9	3421											
CCDC42	146849	broad.mit.edu	37	17	8647917	8647917	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr17:8647917C>T	ENST00000293845.3	-	1	237	c.11G>A	c.(10-12)gGc>gAc	p.G4D	CCDC42_ENST00000539522.2_Missense_Mutation_p.G4D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	4										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTCCATGATGCCCAGACTCAT	0.612																																						uc002gln.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(10-12)gGc>gAc		Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.							91	77	82					17																	8647917		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8647917C>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.11G>A	17.37:g.8647917C>T	ENSP00000293845:p.Gly4Asp		Somatic				CCDC42_uc002glo.3_Missense_Mutation_p.G4D	p.G4D	NM_144681	NP_653282	WXS	Illumina GAIIx	Phase_I	Q96M95	CCD42_HUMAN			0	238	-			4					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.11G>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426953	0.83667	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.27402	1.67;1.76	5.14	5.14	0.70334	.	0.104471	0.42964	D	0.000638	T	0.36331	0.0963	N	0.19112	0.55	0.43175	D	0.994986	D	0.89917	1.0	D	0.87578	0.998	T	0.05370	-1.0889	10	0.09843	T	0.71	-26.3912	14.4624	0.67459	0.0:1.0:0.0:0.0	.	4	Q96M95	CCD42_HUMAN	D	4	ENSP00000293845:G4D;ENSP00000444359:G4D	ENSP00000293845:G4D	G	-	2	0	CCDC42	8588642	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.775000	0.47702	2.556000	0.86216	0.561000	0.74099	GGC		0.612	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		34	46	0	0	0	1	0	34	46					T	8647917	C	T	8647917	3	4	193	1	0	0	0	0	1	0	0	0	2814	739	26	2	967	2	CCDC42	17	8647917	Missense_Mutation	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		8647917	72547293	10	3422											
GAA	2548	broad.mit.edu	37	17	78079688	78079688	+	Silent	SNP	C	C	T	rs149814041		TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr17:78079688C>T	ENST00000302262.3	+	3	906	c.687C>T	c.(685-687)cgC>cgT	p.R229R	GAA_ENST00000390015.3_Silent_p.R229R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	229					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TGGACGGCCGCGTGCTGTGAG	0.657																																						uc002jxp.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(685-687)cgC>cgT		Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	Acarbose(DB00284)	C	,,	0,4404		0,0,2202	36	34	34		687,687,687	-4.3	0.2	17	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAA	NM_000152.3,NM_001079803.1,NM_001079804.1	,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,	229/953,229/953,229/953	78079688	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78079688C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.687C>T	17.37:g.78079688C>T			Somatic				GAA_uc002jxo.3_Silent_p.R229R|GAA_uc002jxq.3_Silent_p.R229R	p.R229R	NM_000152	NP_001073272	WXS	Illumina GAIIx	Phase_I	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		2	1054	+	all_neural(118;0.117)		229					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.687C>T	CCDS32760.1																																																																																				0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			9	76	0	0	0	1	0	9	76					T	78079688	C	T	78079688	2	4	193	1	0	0	0	0	0	0	0	1	6147	755	27	1		1	GAA	17	78079688	Silent	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08	69431771	78079688	3115522	11	3423											
DCC	1630	broad.mit.edu	37	18	50866169	50866169	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr18:50866169C>A	ENST00000442544.2	+	15	2867	c.2251C>A	c.(2251-2253)Cca>Aca	p.P751T	DCC_ENST00000412726.1_Missense_Mutation_p.P599T|DCC_ENST00000581580.1_Missense_Mutation_p.P406T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	751	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCTTGAACCCAAACATCGT	0.473																																						uc002lfe.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2251-2253)Cca>Aca		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							225	186	199					18																	50866169		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50866169C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2251C>A	18.37:g.50866169C>A	ENSP00000389140:p.Pro751Thr		Somatic				DCC_uc010xdr.1_Missense_Mutation_p.P599T|DCC_uc010dpf.2_Missense_Mutation_p.P406T	p.P751T	NM_005215	NP_005206	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	14	2867	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	751			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2251C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852609	0.51270	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57273	0.41;0.41	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.58538	0.2129	L	0.48260	1.515	0.58432	D	0.999996	B;B;B	0.30664	0.018;0.018;0.289	B;B;B	0.43274	0.091;0.058;0.414	T	0.59653	-0.7414	10	0.52906	T	0.07	.	17.7948	0.88566	0.0:1.0:0.0:0.0	.	599;599;751	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	T	751;684;599	ENSP00000389140:P751T;ENSP00000397322:P599T	ENSP00000304146:P684T	P	+	1	0	DCC	49120167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.565000	0.86533	0.655000	0.94253	CCA		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		7	96	0	0	0	1	0	7	96					A	50866169	C	A	50866169	3	1	193	1	0	0	0	0	1	0	0	0	4282	623	22	4	2309	4	DCC	18	50866169	Missense_Mutation	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		50866169	27211079	12	3424											
RTTN	25914	broad.mit.edu	37	18	67872549	67872549	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chr18:67872549G>C	ENST00000255674.6	-	2	320	c.34C>G	c.(34-36)Cat>Gat	p.H12D	RTTN_ENST00000437017.1_Missense_Mutation_p.H12D|RTTN_ENST00000454359.1_Missense_Mutation_p.H12D	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	12					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)				GCCAGCTGATGACCTGTCAAC	0.483																																						uc002lkp.2																			0				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						c.(34-36)Cat>Gat		Homo sapiens rotatin (RTTN), mRNA.							88	89	89					18																	67872549		1929	4130	6059	SO:0001583	missense	25914						binding	g.chr18:67872549G>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.34C>G	18.37:g.67872549G>C	ENSP00000255674:p.His12Asp		Somatic				RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.H12D	p.H12D	NM_173630	NP_775901	WXS	Illumina GAIIx	Phase_I	Q86VV8	RTTN_HUMAN			1	102	-		Esophageal squamous(42;0.129)	12					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.34C>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178865	0.57692	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.61859	1.61;0.07;0.07	5.35	5.35	0.76521	Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	T	0.75845	0.3905	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	1.0;0.994	D;P	0.91635	0.999;0.844	T	0.77667	-0.2502	10	0.66056	D	0.02	.	19.1024	0.93279	0.0:0.0:1.0:0.0	.	12;12	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	D	12	ENSP00000255674:H12D;ENSP00000402352:H12D;ENSP00000399520:H12D	ENSP00000255674:H12D	H	-	1	0	RTTN	66023529	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.503000	0.97984	2.503000	0.84419	0.563000	0.77884	CAT		0.483	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		4	172	0	0	0	1	0	4	172					C	67872549	G	C	67872549	3	2	193	1	0	0	0	0	1	0	0	0	13737	1290	45	4	6838	4	RTTN	18	67872549	Missense_Mutation	SNP	G	TCGA-EL-A3MW-01A-11D-A20C-08	17006380	67872549	10204699	13	3425											
SMARCA1	6594	broad.mit.edu	37	X	128657222	128657222	+	Silent	SNP	C	C	T			TCGA-EL-A3MW-01A-11D-A20C-08	TCGA-EL-A3MW-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f349b8b-7642-4276-ad9a-5a76030309d8	ed837939-2741-45c0-90a3-8ec7995d5eb5	g.chrX:128657222C>T	ENST00000371122.4	-	1	255	c.126G>A	c.(124-126)gcG>gcA	p.A42A	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Silent_p.A42A|SMARCA1_ENST00000371121.3_Silent_p.A42A	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	42					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTTCGGTGGCCGCGGCGGCCG	0.667													c|||	1	0.000264901	8e-04	0	3775	,	,		6028	0		0	False		,,,				2504	0					uc011muk.1																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(124-126)gcG>gcA		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.							124	104	111					X																	128657222		2203	4300	6503	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128657222C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.126G>A	X.37:g.128657222C>T			Somatic				SMARCA1_uc004eun.4_Silent_p.A42A|SMARCA1_uc004eup.4_Silent_p.A42A|SMARCA1_uc011mul.1_Silent_p.A42A	p.A42A	NM_003069	NP_003060	WXS	Illumina GAIIx	Phase_I	P28370	SMCA1_HUMAN			0	239	-			42					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.126G>A	CCDS14612.1																																																																																				0.667	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		5	168	0	0	0	1	0	5	168					T	128657222	C	T	128657222	2	4	193	1	0	0	0	0	0	0	0	1	14768	639	23	1		1	SMARCA1	23	128657222	Silent	SNP	C	TCGA-EL-A3MW-01A-11D-A20C-08		128657222	26613338	14	3426											
VAMP3	9341	broad.mit.edu	37	1	7837370	7837370	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:7837370A>T	ENST00000054666.6	+	3	338	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_Missense_Mutation_p.N47Y	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	75					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTGGTGGAAGAATTGCAAGGT	0.448																																						uc001aol.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(223-225)Aat>Tat		Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.							87	85	86					1																	7837370		2203	4300	6503	SO:0001583	missense	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7837370A>T	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"Vesicle-associated membrane proteins"	12644	protein-coding gene	gene with protein product	"cellubrevin"	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.223A>T	1.37:g.7837370A>T	ENSP00000054666:p.Asn75Tyr		Somatic					p.N75Y	NM_004781	NP_004772	WXS	Illumina GAIIx	Phase_I	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	2	338	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	75					Q9BRV4	Missense_Mutation	SNP	ENST00000054666.6	37	c.223A>T	CCDS88.1	.	.	.	.	.	.	.	.	.	.	A	31	5.071085	0.93950	.	.	ENSG00000049245	ENST00000054666	T	0.55234	0.53	6.17	6.17	0.99709	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90070	0.4162	10	0.87932	D	0	-27.6881	16.8222	0.85835	1.0:0.0:0.0:0.0	.	75	Q15836	VAMP3_HUMAN	Y	75	ENSP00000054666:N75Y	ENSP00000054666:N75Y	N	+	1	0	VAMP3	7759957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.237000	0.95368	2.371000	0.80710	0.533000	0.62120	AAT		0.448	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		3	21	0	0	0	1	0	3	21					T	7837370	A	T	7837370	3	4	194	1	0	0	0	0	1	0	0	0	17111	246	9	5	233	5	VAMP3	1	7837370	Missense_Mutation	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08		7837370	241413251	1	3427											
GATAD2B	57459	broad.mit.edu	37	1	153784245	153784245	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:153784245G>A	ENST00000368655.4	-	10	1853	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	537					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGACAACTGGGGTGCCTGTGC	0.517																																						uc001fdb.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1609-1611)cCc>cTc		Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.							84	84	84					1																	153784245		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153784245G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1610C>T	1.37:g.153784245G>A	ENSP00000357644:p.Pro537Leu		Somatic					p.P537L	NM_020699	NP_065750	WXS	Illumina GAIIx	Phase_I	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	1854	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		537					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1610C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482910	0.84747	.	.	ENSG00000143614	ENST00000368655	T	0.32023	1.47	5.52	5.52	0.82312	.	0.051334	0.85682	D	0.000000	T	0.17662	0.0424	L	0.43923	1.385	0.80722	D	1	P	0.37781	0.608	B	0.32289	0.143	T	0.03034	-1.1080	10	0.52906	T	0.07	-1.0494	18.37	0.90403	0.0:0.0:1.0:0.0	.	537	Q8WXI9	P66B_HUMAN	L	537	ENSP00000357644:P537L	ENSP00000357644:P537L	P	-	2	0	GATAD2B	152050869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.186000	0.94906	2.873000	0.98535	0.563000	0.77884	CCC		0.517	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		3	107	0	0	0	1	0	3	107					A	153784245	G	A	153784245	3	1	194	1	0	0	0	0	1	0	0	0	6261	1232	43	2	179	2	GATAD2B	1	153784245	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	145946875	153784245	95466376	2	3428											
ATP1A2	477	broad.mit.edu	37	1	160105253	160105253	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:160105253G>A	ENST00000361216.3	+	16	2234	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ATP1A2_ENST00000392233.3_Silent_p.G715G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	715			G -> R (in FHM2; de novo mutation in a sporadic case). {ECO:0000269|PubMed:21352219}.		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)			CGGGTGACGGGGTGAACGACT	0.602																																						uc001fvc.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.(2143-2145)ggG>ggA		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							172	124	140					1																	160105253		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160105253G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2145G>A	1.37:g.160105253G>A			Somatic				ATP1A2_uc001fvb.2_Silent_p.G715G|ATP1A2_uc001fvd.3_Silent_p.G451G	p.G715G	NM_000702	NP_000693	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		15	2277	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		715		G -> R (in FHM2; de novo mutation in a sporadic case).			D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.2145G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012326	0.19277	.	.	ENSG00000018625	ENST00000447527	D	0.99483	-5.99	4.31	-2.77	0.05877	.	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.94172	0.7424	7	0.87932	D	0	.	0.9605	0.01394	0.2612:0.1214:0.1724:0.445	.	.	.	.	E	426	ENSP00000411705:G426E	ENSP00000411705:G426E	G	+	2	0	ATP1A2	158371877	0.000000	0.05858	0.892000	0.35008	0.867000	0.49689	-2.311000	0.01128	-0.395000	0.07715	0.561000	0.74099	GGG		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		5	116	0	0	0	1	0	5	116					A	160105253	G	A	160105253	2	1	194	1	0	0	0	0	0	0	0	1	1129	1219	43	2		2	ATP1A2	1	160105253	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	6321008	160105253	89145368	3	3429											
NRXN1	9378	broad.mit.edu	37	2	50149344	50149344	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:50149344G>C	ENST00000406316.2	-	22	5648	c.4172C>G	c.(4171-4173)gCa>gGa	p.A1391G	NRXN1_ENST00000404971.1_Missense_Mutation_p.A1461G|NRXN1_ENST00000342183.5_Missense_Mutation_p.A356G|NRXN1_ENST00000401710.1_Missense_Mutation_p.A409G|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1391G|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1421G|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1413G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1391					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)			GATCACTTCTGCTGAGCCTGG	0.532																																						uc021vhg.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.(4381-4383)gCa>gGa		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							60	51	54					2																	50149344		2203	4300	6503	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.chr2:50149344G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4172C>G	2.37:g.50149344G>C	ENSP00000384311:p.Ala1391Gly		Somatic				NRXN1_uc010fbp.3_Missense_Mutation_p.A356G|NRXN1_uc002rxb.4_Missense_Mutation_p.A1090G|NRXN1_uc021vhh.1_Missense_Mutation_p.A1391G|NRXN1_uc021vhi.1_Missense_Mutation_p.A1457G|NRXN1_uc021vhj.1_Missense_Mutation_p.A1387G|NRXN1_uc002rxa.4_Missense_Mutation_p.A53G|NRXN1_uc010yon.2_Missense_Mutation_p.A56G	p.A1461G	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		22	5303	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1391					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4382C>G	CCDS54360.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	10.19|10.19|10.19	1.282844|1.282844|1.282844	0.23392|0.23392|0.23392	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000412315|ENST00000378262	T;T;T;T;T;T;T;T|.|T	0.70399|.|0.64260	1.03;2.2;0.23;0.18;-0.48;-0.37;-0.08;0.05|.|-0.09	5.95|5.95|5.95	5.95|5.95|5.95	0.96441|0.96441|0.96441	.|.|.	0.428033|.|.	0.17506|.|.	U|.|.	0.171786|.|.	T|T|T	0.64238|0.64238|0.64238	0.2580|0.2580|0.2580	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.20403|0.20403|0.20403	N|N|N	0.999901|0.999901|0.999901	B;B;B;B;B;B|.|.	0.25007|.|.	0.002;0.053;0.116;0.015;0.032;0.013|.|.	B;B;B;B;B;B|.|.	0.29524|.|.	0.006;0.096;0.103;0.008;0.044;0.025|.|.	T|T|T	0.61695|0.61695|0.61695	-0.7010|-0.7010|-0.7010	10|5|7	0.52906|.|0.72032	T|.|D	0.07|.|0.01	.|.|.	15.9241|15.9241|15.9241	0.79603|0.79603|0.79603	0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357	.|.|.	56;1461;356;1391;1410;53|.|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.|.	.;.;NRX1B_HUMAN;.;.;.|.|.	G|E|R	356;310;409;1461;1391;1413;1421;1462;1413;1391|124|57	ENSP00000341184:A356G;ENSP00000385580:A409G;ENSP00000385142:A1461G;ENSP00000384311:A1391G;ENSP00000434015:A1413G;ENSP00000385017:A1421G;ENSP00000385434:A1413G;ENSP00000385681:A1391G|.|ENSP00000367510:S57R	ENSP00000341184:A356G|.|ENSP00000367510:S57R	A|Q|S	-|-|-	2|1|3	0|0|2	NRXN1|NRXN1|NRXN1	50002848|50002848|50002848	0.995000|0.995000|0.995000	0.38212|0.38212|0.38212	0.912000|0.912000|0.912000	0.35992|0.35992|0.35992	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	6.016000|6.016000|6.016000	0.70798|0.70798|0.70798	2.817000|2.817000|2.817000	0.96982|0.96982|0.96982	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCA|CAG|AGC		0.532	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			21	40	0	0	0	1	0	21	40					C	50149344	G	C	50149344	3	2	194	1	0	0	0	0	1	0	0	0	10665	1319	46	4	265	4	NRXN1	2	50149344	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		50149344	193050029	4	3430											
ASPRV1	151516	broad.mit.edu	37	2	70188128	70188128	+	Silent	SNP	G	G	A	rs143824935		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:70188128G>A	ENST00000320256.4	-	1	1269	c.693C>T	c.(691-693)ggC>ggT	p.G231G	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGTCCAGATCGCCATCAGTGA	0.567																																						uc002sfz.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(691-693)ggC>ggT		Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.		G		0,4406		0,0,2203	87	83	84		693	-7.5	0.0	2	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ASPRV1	NM_152792.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		231/344	70188128	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188128G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.693C>T	2.37:g.70188128G>A			Somatic					p.G231G	NM_152792	NP_690005	WXS	Illumina GAIIx	Phase_I	Q53RT3	APRV1_HUMAN			0	1270	-			231			Peptidase A2.			Silent	SNP	ENST00000320256.4	37	c.693C>T	CCDS1897.1																																																																																				0.567	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		6	88	0	0	0	1	0	6	88					A	70188128	G	A	70188128	2	1	194	1	0	0	0	0	0	0	0	1	1058	1074	38	1		1	ASPRV1	2	70188128	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	20038784	70188128	173011245	5	3431											
AFF3	3899	broad.mit.edu	37	2	100209825	100209825	+	Silent	SNP	G	G	C	rs143928698		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:100209825G>C	ENST00000409236.2	-	13	2410	c.2298C>G	c.(2296-2298)ctC>ctG	p.L766L	AFF3_ENST00000356421.2_Silent_p.L791L|AFF3_ENST00000317233.4_Silent_p.L766L|AFF3_ENST00000409579.1_Silent_p.L791L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	766					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)			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						TTTTGACCCAGAGAGACCTGA	0.582																																						uc002taf.3																			0				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.(2371-2373)ctC>ctG		Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.		G	,	1,4405	2.1+/-5.4	0,1,2202	69	64	66		2373,2298	2.5	1.0	2	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	,	791/1252,766/1227	100209825	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209825G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2298C>G	2.37:g.100209825G>C			Somatic				AFF3_uc002tag.3_Silent_p.L766L|AFF3_uc010fiq.1_Silent_p.L766L|AFF3_uc010yvr.1_Silent_p.L919L|AFF3_uc002tah.1_Silent_p.L791L	p.L791L	NM_001025108	NP_001020279	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			13	2517	-			766					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2373C>G	CCDS42723.1																																																																																				0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	67	0	0	0	1	0	3	67					C	100209825	G	C	100209825	2	2	194	1	0	0	0	0	0	0	0	1	358	929	33	4		4	AFF3	2	100209825	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	30021697	100209825	142989548	6	3432											
CXCR1	3577	broad.mit.edu	37	2	219029655	219029655	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:219029655T>C	ENST00000295683.2	-	2	400	c.280A>G	c.(280-282)Atc>Gtc	p.I94V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	94					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GCGGCCCAGATGGGCAAGGTC	0.557																																						uc002vhc.3																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(280-282)Atc>Gtc		Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.							102	99	100					2																	219029655		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029655T>C	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.280A>G	2.37:g.219029655T>C	ENSP00000295683:p.Ile94Val		Somatic				CXCR1_uc021vwq.1_Missense_Mutation_p.I94V	p.I94V	NM_000634	NP_000625	WXS	Illumina GAIIx	Phase_I	P25024	CXCR1_HUMAN			1	399	-			94					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.280A>G	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.691602	0.30052	.	.	ENSG00000163464	ENST00000295683	T	0.36878	1.23	5.35	-0.818	0.10833	GPCR, rhodopsin-like superfamily (1);	0.170895	0.51477	N	0.000093	T	0.18467	0.0443	L	0.27944	0.81	0.24730	N	0.993095	B	0.13594	0.008	B	0.21360	0.034	T	0.07252	-1.0782	10	0.39692	T	0.17	.	2.1748	0.03859	0.359:0.0764:0.1188:0.4458	.	94	P25024	CXCR1_HUMAN	V	94	ENSP00000295683:I94V	ENSP00000295683:I94V	I	-	1	0	CXCR1	218737900	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.258000	0.08733	0.298000	0.22638	0.533000	0.62120	ATC		0.557	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		41	87	0	0	0	1	0	41	87					C	219029655	T	C	219029655	3	2	194	1	0	0	0	0	1	0	0	0	4090	1464	51	3	776	3	CXCR1	2	219029655	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	118819830	219029655	24169718	7	3433											
IMPDH2	25915	broad.mit.edu	37	3	49062646	49062646	+	IGR	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:49062646G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Missense_Mutation_p.R355W|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAAAGCGCCGTGCATACTCT	0.557																																						uc003cvt.3																			0		p.R355R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(1063-1065)Cgg>Tgg		Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						108	112	110					3																	49062646		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062646G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062646G>A			Somatic					p.R355W	NM_000884	NP_000875	WXS	Illumina GAIIx	Phase_I	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1155	-			355						Missense_Mutation	SNP	ENST00000326925.6	37	c.1063C>T	CCDS2784.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.304528|2.304528	0.40795|0.40795	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000326739|ENST00000429182	T|.	0.79653|.	-1.29|.	5.33|5.33	2.49|2.49	0.30216|0.30216	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85961|0.85961	0.5819|0.5819	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72338|.	0.977|.	D|D	0.88870|0.88870	0.3332|0.3332	9|5	.|.	.|.	.|.	-12.6352|-12.6352	14.1118|14.1118	0.65126|0.65126	0.0:0.0:0.4849:0.5151|0.0:0.0:0.4849:0.5151	.|.	355|.	P12268|.	IMDH2_HUMAN|.	W|M	355|310	ENSP00000321584:R355W|.	.|.	R|T	-|-	1|2	2|0	IMPDH2|IMPDH2	49037650|49037650	0.652000|0.652000	0.27349|0.27349	0.979000|0.979000	0.43373|0.43373	0.967000|0.967000	0.64934|0.64934	0.805000|0.805000	0.27112|0.27112	0.214000|0.214000	0.20742|0.20742	-0.181000|-0.181000	0.13052|0.13052	CGG|ACG		0.557	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069		30	264	0	0	0	1	0	30	264					A	49062646	G	A	49062646	1	1	194	0	1	0	0	0	0	0	0	0	7727	1144	40	1		1	IMPDH2	3	49062646	IGR	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		49062646	148959784	8	3434											
PHLDB2	90102	broad.mit.edu	37	3	111671550	111671550	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:111671550C>T	ENST00000431670.2	+	11	3174	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PHLDB2_ENST00000393923.3_Silent_p.I905I|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000412622.1_Silent_p.I878I|PHLDB2_ENST00000393925.3_Silent_p.I921I|PHLDB2_ENST00000481953.1_Silent_p.I878I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	921						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAGAAGCATCACCCCAAAGG	0.453																																						uc010hqa.3																			0		p.M921L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2761-2763)atC>atT		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							98	94	95					3																	111671550		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111671550C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2763C>T	3.37:g.111671550C>T			Somatic				PHLDB2_uc003dyc.3_Silent_p.I905I|PHLDB2_uc003dyd.3_Silent_p.I878I|PHLDB2_uc003dyg.3_Silent_p.I921I|PHLDB2_uc003dyh.3_Silent_p.I878I|PHLDB2_uc003dyi.3_Intron	p.I921I	NM_001134438	NP_001127911	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			10	3174	+			921					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2763C>T	CCDS46886.1																																																																																				0.453	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		16	59	0	0	0	1	0	16	59					T	111671550	C	T	111671550	2	4	194	1	0	0	0	0	0	0	0	1	11852	816	29	2		2	PHLDB2	3	111671550	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	62608904	111671550	86350880	9	3435											
ETV5	2119	broad.mit.edu	37	3	185766571	185766571	+	Missense_Mutation	SNP	G	G	A	rs201212469		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:185766571G>A	ENST00000306376.5	-	13	1636	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.R464C|ETV5_ENST00000537818.1_Missense_Mutation_p.R506C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	464					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGAACGGACGCTGGTTATCC	0.577			T	"TMPRSS2, SCL45A3"	Prostate								G|||	1	0.000199681	0	0	5008	,	,		16639	0		0.001	False		,,,				2504	0					uc003fpy.3				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1516-1518)Cgt>Tgt		Homo sapiens ets variant 5 (ETV5), mRNA.							76	66	69					3																	185766571		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185766571G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1390C>T	3.37:g.185766571G>A	ENSP00000306894:p.Arg464Cys		Somatic				ETV5_uc003fpz.3_Missense_Mutation_p.R464C	p.R506C	NM_004454	NP_004445	WXS	Illumina GAIIx	Phase_I	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		12	1581	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		464					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1516C>T	CCDS33906.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.60	2.584383	0.46110	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.55930	0.49;0.49;0.49	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.66939	2.045	0.58432	D	0.999998	P;D	0.89917	0.706;1.0	B;D	0.76071	0.135;0.987	T	0.72447	-0.4291	10	0.66056	D	0.02	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	464;506	P41161;B7Z7D7	ETV5_HUMAN;.	C	464;464;506	ENSP00000306894:R464C;ENSP00000413755:R464C;ENSP00000441737:R506C	ENSP00000306894:R464C	R	-	1	0	ETV5	187249265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.441000	0.52893	2.882000	0.98803	0.655000	0.94253	CGT		0.577	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		28	31	0	0	0	1	0	28	31					A	185766571	G	A	185766571	3	1	194	1	0	0	0	0	1	0	0	0	5282	1087	38	1	146	1	ETV5	3	185766571	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	74095021	185766571	12255859	10	3436											
LYAR	55646	broad.mit.edu	37	4	4276212	4276212	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr4:4276212G>A	ENST00000343470.4	-	7	954	c.714C>T	c.(712-714)gtC>gtT	p.V238V	LYAR_ENST00000452476.1_Silent_p.V238V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	238	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCTCAGGGACTTCCTCCC	0.547																																						uc011bvy.2																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(712-714)gtC>gtT		Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.							253	244	247					4																	4276212		2203	4300	6503	SO:0001819	synonymous_variant	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276212G>A	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.714C>T	4.37:g.4276212G>A			Somatic				LYAR_uc011bvx.2_Silent_p.V121V|LYAR_uc003ght.3_Silent_p.V238V	p.V238V	NM_001145725	NP_060286	WXS	Illumina GAIIx	Phase_I	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	857	-			238			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	c.714C>T	CCDS3374.1																																																																																				0.547	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		114	133	0	0	0	1	0	114	133					A	4276212	G	A	4276212	2	1	194	1	0	0	0	0	0	0	0	1	9103	1161	41	2		2	LYAR	4	4276212	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		4276212	186878064	11	3437											
TRIO	7204	broad.mit.edu	37	5	14293176	14293176	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr5:14293176T>C	ENST00000344204.4	+	6	1133	c.1109T>C	c.(1108-1110)aTt>aCt	p.I370T	TRIO_ENST00000537187.1_Missense_Mutation_p.I370T|TRIO_ENST00000509967.2_Missense_Mutation_p.I321T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	370					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)					TACACAGAGATTGGGACCAGC	0.493																																						uc003jff.3																			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.(1108-1110)aTt>aCt		Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.							142	121	128					5																	14293176		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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	g.chr5:14293176T>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1109T>C	5.37:g.14293176T>C	ENSP00000339299:p.Ile370Thr		Somatic				TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.I321T|TRIO_uc003jfh.1_Missense_Mutation_p.I19T	p.I370T	NM_007118	NP_009049	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			5	1115	+	Lung NSC(4;0.000742)		370					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1109T>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420296	0.62622	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52983	0.64;0.64;0.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.91635	0.999;0.999;0.991	T	0.76080	-0.3090	10	0.66056	D	0.02	.	14.9321	0.70923	0.0:0.0:0.0:1.0	.	321;370;370	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	T	370;370;321;57	ENSP00000339299:I370T;ENSP00000446348:I370T;ENSP00000445592:I321T	ENSP00000339299:I370T	I	+	2	0	TRIO	14346176	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	8.040000	0.89188	1.935000	0.56089	0.459000	0.35465	ATT		0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		26	64	0	0	0	1	0	26	64					C	14293176	T	C	14293176	3	2	194	1	0	0	0	0	1	0	0	0	16549	1493	52	3	1131	3	TRIO	5	14293176	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08		14293176	166622084	12	3438											
COL11A2	1302	broad.mit.edu	37	6	33141287	33141287	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33141287C>G	ENST00000374708.4	-	34	2674	c.2416G>C	c.(2416-2418)Gga>Cga	p.G806R	COL11A2_ENST00000374713.1_Missense_Mutation_p.G845R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G785R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G832R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G866R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G811R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G892R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G871R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	892	Collagen-like 4.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCGGGGGTCCTTTCGGTCCA	0.612																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2674-2676)Gga>Cga		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							51	62	58					6																	33141287		2201	4296	6497	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33141287C>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2416G>C	6.37:g.33141287C>G	ENSP00000363840:p.Gly806Arg		Somatic				COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G806R|COL11A2_uc003ocz.1_Missense_Mutation_p.G785R	p.G892R	NM_080680	NP_542411	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			35	2902	-			892			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2674G>C	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481826	0.84747	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99353	-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.77;-5.77	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.97543	1.0087	10	0.87932	D	0	.	14.0539	0.64754	0.0:1.0:0.0:0.0	.	785;806;892	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	806;892;871;866;845;832;811;785	ENSP00000363840:G806R;ENSP00000339915:G892R;ENSP00000350079:G871R;ENSP00000363846:G866R;ENSP00000363845:G845R;ENSP00000378623:G832R;ENSP00000363844:G811R;ENSP00000355123:G785R	ENSP00000339915:G892R	G	-	1	0	COL11A2	33249265	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.497000	0.81536	2.246000	0.74042	0.637000	0.83480	GGA		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			11	103	0	0	0	1	0	11	103					G	33141287	C	G	33141287	3	3	194	1	0	0	0	0	1	0	0	0	3668	690	24	4	2660	4	COL11A2	6	33141287	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		33141287	137973780	13	3439											
LEMD2	221496	broad.mit.edu	37	6	33744785	33744785	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33744785T>C	ENST00000293760.5	-	8	1326	c.1307A>G	c.(1306-1308)tAt>tGt	p.Y436C	LEMD2_ENST00000502643.1_5'Flank|LEMD2_ENST00000508327.1_Missense_Mutation_p.Y134C	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	436					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TACATATGGATAGCGCTCCAT	0.622																																						uc011drm.2																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1306-1308)tAt>tGt		Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.							119	95	103					6																	33744785		2203	4300	6503	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33744785T>C		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1307A>G	6.37:g.33744785T>C	ENSP00000293760:p.Tyr436Cys		Somatic				LEMD2_uc010jvg.3_Missense_Mutation_p.Y145C|LEMD2_uc011drl.2_Missense_Mutation_p.Y134C	p.Y436C	NM_181336	NP_851853	WXS	Illumina GAIIx	Phase_I	Q8NC56	LEMD2_HUMAN			7	1320	-			436					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.1307A>G	CCDS4785.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308969	0.81247	.	.	ENSG00000161904	ENST00000506578;ENST00000293760;ENST00000508327	.	.	.	5.66	5.66	0.87406	Inner nuclear membrane protein MAN1 (1);	0.000000	0.52532	D	0.000072	T	0.63414	0.2509	L	0.44542	1.39	0.50313	D	0.999863	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.68368	-0.5427	9	0.72032	D	0.01	-4.5504	15.9078	0.79445	0.0:0.0:0.0:1.0	.	436;397	Q8NC56;A8MS91	LEMD2_HUMAN;.	C	19;436;134	.	ENSP00000293760:Y436C	Y	-	2	0	LEMD2	33852763	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.038000	0.57318	2.144000	0.66660	0.460000	0.39030	TAT		0.622	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		12	69	0	0	0	1	0	12	69					C	33744785	T	C	33744785	3	2	194	1	0	0	0	0	1	0	0	0	8720	1406	49	3	212	3	LEMD2	6	33744785	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	603498	33744785	137370282	14	3440											
TBC1D22B	55633	broad.mit.edu	37	6	37225722	37225722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:37225722G>A	ENST00000373491.3	+	1	175	c.29G>A	c.(28-30)tGg>tAg	p.W10*	TMEM217_ENST00000336655.2_5'Flank|TMEM217_ENST00000497775.1_5'Flank|TMEM217_ENST00000356757.2_5'Flank	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	10							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGCAGTTTTGGAAGAGGAGC	0.622																																						uc003onn.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(28-30)tGg>tAg		Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.							38	32	34					6																	37225722		2203	4300	6503	SO:0001587	stop_gained	55633					intracellular	Rab GTPase activator activity	g.chr6:37225722G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.29G>A	6.37:g.37225722G>A	ENSP00000362590:p.Trp10*		Somatic				TMEM217_uc003onl.3_5'Flank|TMEM217_uc010jwr.3_5'Flank|TMEM217_uc010jws.3_5'Flank|TMEM217_uc003onm.4_5'UTR|TBC1D22B_uc010jwt.3_Non-coding_Transcript	p.W10*	NM_017772	NP_060242	WXS	Illumina GAIIx	Phase_I	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		0	175	+			10					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Nonsense_Mutation	SNP	ENST00000373491.3	37	c.29G>A	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469150	0.98302	.	.	ENSG00000065491	ENST00000373491	.	.	.	5.62	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9599	0.53003	0.0825:0.0:0.9175:0.0	.	.	.	.	X	10	.	ENSP00000362590:W10X	W	+	2	0	TBC1D22B	37333700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.232000	0.65332	1.363000	0.46019	0.655000	0.94253	TGG		0.622	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		9	39	0	0	0	1	0	9	39					A	37225722	G	A	37225722	4	1	194	1	0	0	0	0	0	1	0	0	15609	1357	47	2	31	2	TBC1D22B	6	37225722	Nonsense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	3480937	37225722	133889345	15	3441											
MDN1	23195	broad.mit.edu	37	6	90368423	90368423	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:90368423G>A	ENST00000369393.3	-	89	15042	c.14927C>T	c.(14926-14928)tCt>tTt	p.S4976F	MDN1_ENST00000428876.1_Missense_Mutation_p.S4976F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4976					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)		CTGCTCCTCAGAGTGTTCTTC	0.532																																						uc003pnn.1																			0				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						c.(14926-14928)tCt>tTt		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							277	242	254					6																	90368423		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90368423G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14927C>T	6.37:g.90368423G>A	ENSP00000358400:p.Ser4976Phe		Somatic					p.S4976F	NM_014611	NP_055426	WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	88	15043	-		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)	4976					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.14927C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	9.088	1.000905	0.19121	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03330	3.97;3.97	5.09	0.807	0.18714	.	1.362210	0.04771	N	0.427984	T	0.00936	0.0031	N	0.22421	0.69	0.09310	N	1	B	0.26318	0.146	B	0.18871	0.023	T	0.47471	-0.9115	10	0.59425	D	0.04	.	4.8777	0.13664	0.1691:0.0:0.435:0.396	.	4976	Q9NU22	MDN1_HUMAN	F	4976	ENSP00000358400:S4976F;ENSP00000413970:S4976F	ENSP00000358400:S4976F	S	-	2	0	MDN1	90425144	0.004000	0.15560	0.002000	0.10522	0.015000	0.08874	0.850000	0.27737	0.211000	0.20683	0.555000	0.69702	TCT		0.532	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			12	147	0	0	0	1	0	12	147					A	90368423	G	A	90368423	3	1	194	1	0	0	0	0	1	0	0	0	9415	942	33	2	1919	2	MDN1	6	90368423	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	53142701	90368423	80746644	16	3442											
HIBADH	11112	broad.mit.edu	37	7	27570874	27570874	+	Silent	SNP	C	C	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:27570874C>A	ENST00000265395.2	-	7	995	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	263					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CGCCATCCATCACTCCAGGTA	0.443																																						uc003szf.3																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(787-789)gtG>gtT		Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	NADH(DB00157)						140	121	128					7																	27570874		2203	4300	6503	SO:0001819	synonymous_variant	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27570874C>A	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.789G>T	7.37:g.27570874C>A			Somatic				HIBADH_uc003szg.3_Silent_p.V214V	p.V263V	NM_152740	NP_689953	WXS	Illumina GAIIx	Phase_I	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		6	1002	-			263					Q546Z2|Q9UDN3	Silent	SNP	ENST00000265395.2	37	c.789G>T	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660103	0.03454	.	.	ENSG00000106049	ENST00000425715	.	.	.	6.17	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.0862	8.3201	0.32124	0.1229:0.6928:0.1136:0.0708	.	.	.	.	L	206	.	.	X	-	2	2	HIBADH	27537399	0.996000	0.38824	1.000000	0.80357	0.285000	0.27093	0.412000	0.21131	1.564000	0.49628	0.655000	0.94253	TGA		0.443	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		6	71	0	0	0	1	0	6	71					A	27570874	C	A	27570874	2	1	194	1	0	0	0	0	0	0	0	1	7099	813	29	4		4	HIBADH	7	27570874	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		27570874	131567789	17	3443											
NSUN5	55695	broad.mit.edu	37	7	72718830	72718830	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:72718830G>A	ENST00000252594.6	-	6	684	c.669C>T	c.(667-669)gaC>gaT	p.D223D	NSUN5_ENST00000438747.2_Silent_p.D223D|NSUN5_ENST00000428206.1_Silent_p.D185D|NSUN5_ENST00000310326.8_Silent_p.D223D			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	223					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGCGGGGGGTCCAGCAGCA	0.617																																						uc011kev.2																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(667-669)gaC>gaT		Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 3, mRNA.							36	39	38					7																	72718830		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72718830G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.669C>T	7.37:g.72718830G>A			Somatic				FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.3_Silent_p.D223D|NSUN5_uc003txw.3_Silent_p.D223D|NSUN5_uc003txx.3_Silent_p.D185D	p.D223D	NM_001168347	NP_001161819	WXS	Illumina GAIIx	Phase_I	Q96P11	NSUN5_HUMAN			5	746	-		Lung NSC(55;0.163)	223					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.669C>T	CCDS5547.1																																																																																				0.617	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		3	52	0	0	0	1	0	3	52					A	72718830	G	A	72718830	2	1	194	1	0	0	0	0	0	0	0	1	10681	1252	44	2		2	NSUN5	7	72718830	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	45147956	72718830	86419833	18	3444											
C7orf51	222950	broad.mit.edu	37	7	100086968	100086968	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:100086968G>T	ENST00000300179.2	+	4	1783	c.1624G>T	c.(1624-1626)Gta>Tta	p.V542L	NYAP1_ENST00000454988.1_Missense_Mutation_p.V485L|NYAP1_ENST00000423930.1_Missense_Mutation_p.V542L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	542					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGACCCAACTGTAGGCCCCCT	0.687																																						uc003uvd.1																			0											c.(1624-1626)Gta>Tta		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.							12	15	14					7																	100086968		2194	4284	6478	SO:0001583	missense	222950							g.chr7:100086968G>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1624G>T	7.37:g.100086968G>T	ENSP00000300179:p.Val542Leu		Somatic				NYAP1_uc003uve.1_Missense_Mutation_p.V324L	p.V542L	NM_173564	NP_775835	WXS	Illumina GAIIx	Phase_I	Q6ZVC0	CG051_HUMAN			3	1783	+			542					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1624G>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905728	0.17760	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.30448	1.53;1.53;1.54	5.35	2.11	0.27256	.	0.705502	0.12808	N	0.437434	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21793	-1.0235	10	0.59425	D	0.04	0.3797	9.6606	0.39952	0.2761:0.0:0.7239:0.0	.	485;542	C9JS30;Q6ZVC0	.;CG051_HUMAN	L	542;542;485	ENSP00000300179:V542L;ENSP00000411861:V542L;ENSP00000394424:V485L	ENSP00000300179:V542L	V	+	1	0	C7orf51	99924904	0.001000	0.12720	0.716000	0.30569	0.722000	0.41435	0.130000	0.15850	0.650000	0.30769	0.561000	0.74099	GTA		0.687	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		12	13	0	0	0	1	0	12	13					T	100086968	G	T	100086968	3	4	194	1	0	0	0	0	1	0	0	0	2400	1377	48	4	1634	4	C7orf51	7	100086968	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	27368138	100086968	59051695	19	3445											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	44	0	0	0	1	0	25	44					T	140453136	A	T	140453136	3	4	194	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08	40366168	140453136	18685527	20	3446											
FER1L6	654463	broad.mit.edu	37	8	124992869	124992869	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr8:124992869G>T	ENST00000522917.1	+	11	1434	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S	FER1L6_ENST00000399018.1_Missense_Mutation_p.A410S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	410						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCAGGACGGGCACAGGAATC	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1228-1230)Gca>Tca		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							118	121	120					8																	124992869		1878	4105	5983	SO:0001583	missense	654463					integral to membrane		g.chr8:124992869G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1228G>T	8.37:g.124992869G>T	ENSP00000428280:p.Ala410Ser		Somatic	OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538		p.A410S	NM_001039112	NP_001034201	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		10	1434	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		410						Missense_Mutation	SNP	ENST00000522917.1	37	c.1228G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	6.654	0.489224	0.12641	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81499	-1.5;-1.5	5.53	3.63	0.41609	.	1.265550	0.06236	U	0.689554	T	0.67878	0.2940	N	0.20401	0.57	0.39687	D	0.970988	B	0.17268	0.021	B	0.11329	0.006	T	0.49331	-0.8951	10	0.10377	T	0.69	.	10.3075	0.43689	0.0701:0.0:0.7956:0.1343	.	410	Q2WGJ9	FR1L6_HUMAN	S	410	ENSP00000428280:A410S;ENSP00000381982:A410S	ENSP00000381982:A410S	A	+	1	0	FER1L6	125062050	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.900000	0.39828	1.346000	0.45694	0.655000	0.94253	GCA		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		18	107	0	0	0	1	0	18	107					T	124992869	G	T	124992869	3	4	194	1	0	0	0	0	1	0	0	0	5815	1203	42	4	1266	4	FER1L6	8	124992869	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		124992869	21371153	21	3447											
RECK	8434	broad.mit.edu	37	9	36118962	36118962	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr9:36118962C>G	ENST00000377966.3	+	18	3028	c.2462C>G	c.(2461-2463)cCg>cGg	p.P821R		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	821					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATCATCCCACCGGGTAGGCTG	0.557																																						uc003zyv.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2461-2463)cCg>cGg		Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.							64	61	62					9																	36118962		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36118962C>G	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2462C>G	9.37:g.36118962C>G	ENSP00000367202:p.Pro821Arg		Somatic				RECK_uc003zyw.3_Missense_Mutation_p.P693R|RECK_uc003zyx.3_Non-coding_Transcript	p.P821R	NM_021111	NP_066934	WXS	Illumina GAIIx	Phase_I	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		17	2548	+			821					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2462C>G	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238139	0.79800	.	.	ENSG00000122707	ENST00000377966	T	0.53640	0.61	5.52	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.69030	-0.5253	10	0.72032	D	0.01	-6.7416	14.5557	0.68100	0.0:0.8527:0.1473:0.0	.	821;821	A8K9D8;O95980	.;RECK_HUMAN	R	821	ENSP00000367202:P821R	ENSP00000367202:P821R	P	+	2	0	RECK	36108962	1.000000	0.71417	0.787000	0.31911	0.856000	0.48823	7.354000	0.79424	1.460000	0.47911	0.655000	0.94253	CCG		0.557	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			7	148	0	0	0	1	0	7	148					G	36118962	C	G	36118962	3	3	194	1	0	0	0	0	1	0	0	0	13200	652	23	4	2532	4	RECK	9	36118962	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		36118962	105094469	22	3448											
DHX32	55760	broad.mit.edu	37	10	127548295	127548295	+	Silent	SNP	A	A	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr10:127548295A>G	ENST00000284690.3	-	3	1216	c.726T>C	c.(724-726)ccT>ccC	p.P242P	DHX32_ENST00000284688.6_Silent_p.P242P	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	242						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAACCTCCACAGGGTGTTTAT	0.403																																						uc001ljf.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(724-726)ccT>ccC		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.							124	129	127					10																	127548295		2203	4300	6503	SO:0001819	synonymous_variant	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127548295A>G		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.726T>C	10.37:g.127548295A>G			Somatic				DHX32_uc001ljg.1_Silent_p.P242P|DHX32_uc009yam.1_Silent_p.P78P	p.P242P	NM_018180	NP_060650	WXS	Illumina GAIIx	Phase_I	Q7L7V1	DHX32_HUMAN			2	1217	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	242					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	c.726T>C	CCDS7652.1																																																																																				0.403	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		18	91	0	0	0	1	0	18	91					G	127548295	A	G	127548295	2	3	194	1	0	0	0	0	0	0	0	1	4505	175	7	3		3	DHX32	10	127548295	Silent	SNP	A	TCGA-EL-A3MX-01A-11D-A21A-08		127548295	7986452	23	3449											
E2F8	79733	broad.mit.edu	37	11	19246838	19246838	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:19246838T>A	ENST00000527884.1	-	12	2583	c.2351A>T	c.(2350-2352)aAc>aTc	p.N784I	E2F8_ENST00000250024.4_Missense_Mutation_p.N784I|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	784					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTCATAGTTGGTGGCCCT	0.498																																						uc001mpm.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2350-2352)aAc>aTc		Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.							133	134	134					11																	19246838		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19246838T>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2351A>T	11.37:g.19246838T>A	ENSP00000434199:p.Asn784Ile		Somatic				E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.N784I	p.N784I	NM_024680	NP_078956	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			11	2873	-			784					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2351A>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	T	4.666	0.123805	0.08931	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.17528	2.27;2.27	5.26	-6.84	0.01687	.	1.184280	0.05766	N	0.605871	T	0.06690	0.0171	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	10	0.49607	T	0.09	3.46	7.9324	0.29909	0.2088:0.133:0.0:0.6582	.	784	A0AVK6	E2F8_HUMAN	I	784	ENSP00000434199:N784I;ENSP00000250024:N784I	ENSP00000250024:N784I	N	-	2	0	E2F8	19203414	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.305000	0.08188	-1.221000	0.02591	0.482000	0.46254	AAC		0.498	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		17	129	0	0	0	1	0	17	129					A	19246838	T	A	19246838	3	1	194	1	0	0	0	0	1	0	0	0	4873	1725	60	5	260	5	E2F8	11	19246838	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08		19246838	115759678	24	3450											
AMICA1	120425	broad.mit.edu	37	11	118068757	118068757	+	Missense_Mutation	SNP	C	C	G	rs139352792		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:118068757C>G	ENST00000356289.5	-	8	1134	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	AMICA1_ENST00000526620.1_Missense_Mutation_p.E282Q|AMICA1_ENST00000533261.1_Missense_Mutation_p.E310Q|AMICA1_ENST00000292067.7_Missense_Mutation_p.E311Q	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	321					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)		TCTTTTATCTCTGGATTAGTC	0.438											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001psk.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(961-963)Gag>Cag		Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.							193	175	182					11																	118068757		2199	4296	6495	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118068757C>G	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.961G>C	11.37:g.118068757C>G	ENSP00000348635:p.Glu321Gln		Somatic	OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_uc001psg.2_Missense_Mutation_p.E131Q|AMICA1_uc001psh.2_Missense_Mutation_p.E282Q|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.E311Q|AMICA1_uc010rxw.1_Missense_Mutation_p.E282Q|AMICA1_uc010rxx.1_Missense_Mutation_p.E321Q|AMICA1_uc001psl.1_Missense_Mutation_p.E277Q	p.E321Q	NM_001098526	NP_001091996	WXS	Illumina GAIIx	Phase_I	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1135	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	321					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.961G>C	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012217	0.35511	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98792	-4.58;-4.59;-4.58;-5.14	3.91	3.91	0.45181	.	0.147309	0.31897	N	0.006898	D	0.96197	0.8760	N	0.14661	0.345	0.20074	N	0.999934	P;B;P;P;P	0.48998	0.7;0.018;0.641;0.641;0.918	B;B;P;P;P	0.50860	0.383;0.018;0.45;0.45;0.652	D	0.91024	0.4859	10	0.26408	T	0.33	0.285	11.7151	0.51647	0.0:1.0:0.0:0.0	.	321;282;321;310;311	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	Q	321;311;310;282	ENSP00000348635:E321Q;ENSP00000292067:E311Q;ENSP00000436117:E310Q;ENSP00000431218:E282Q	ENSP00000292067:E311Q	E	-	1	0	AMICA1	117573967	0.998000	0.40836	0.848000	0.33437	0.003000	0.03518	3.018000	0.49625	2.470000	0.83445	0.650000	0.86243	GAG		0.438	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		3	105	0	0	0	1	0	3	105					G	118068757	C	G	118068757	3	3	194	1	0	0	0	0	1	0	0	0	574	922	32	4	235	4	AMICA1	11	118068757	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	98821919	118068757	16937759	25	3451											
STAC3	246329	broad.mit.edu	37	12	57640655	57640655	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr12:57640655C>T	ENST00000332782.2	-	6	736	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	STAC3_ENST00000554578.1_Missense_Mutation_p.E140K|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	179					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGCAGGGTTTCAAACACAGGA	0.507																																						uc001snp.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(535-537)Gaa>Aaa		Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.							247	198	215					12																	57640655		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57640655C>T	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.535G>A	12.37:g.57640655C>T	ENSP00000329200:p.Glu179Lys		Somatic				STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.E140K|STAC3_uc010srm.1_5'UTR	p.E179K	NM_145064	NP_659501	WXS	Illumina GAIIx	Phase_I	Q96MF2	STAC3_HUMAN			5	737	-			179					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.535G>A	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338384	0.81911	.	.	ENSG00000185482	ENST00000554578;ENST00000332782	D;D	0.83419	-1.68;-1.72	4.74	4.74	0.60224	.	0.110120	0.64402	D	0.000014	T	0.76111	0.3942	L	0.47190	1.495	0.80722	D	1	P	0.37781	0.608	B	0.26864	0.074	T	0.78565	-0.2155	10	0.45353	T	0.12	-0.3612	17.3708	0.87377	0.0:1.0:0.0:0.0	.	179	Q96MF2	STAC3_HUMAN	K	140;179	ENSP00000452068:E140K;ENSP00000329200:E179K	ENSP00000329200:E179K	E	-	1	0	STAC3	55926922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.961000	0.76042	2.573000	0.86826	0.655000	0.94253	GAA		0.507	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		12	230	0	0	0	1	0	12	230					T	57640655	C	T	57640655	3	4	194	1	0	0	0	0	1	0	0	0	15240	835	29	2	587	2	STAC3	12	57640655	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		57640655	76211240	26	3452											
TEP1	7011	broad.mit.edu	37	14	20859812	20859812	+	Silent	SNP	G	G	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:20859812G>C	ENST00000262715.5	-	13	2083	c.2043C>G	c.(2041-2043)gtC>gtG	p.V681V	TEP1_ENST00000556935.1_Silent_p.V573V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	681					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)		CTGTCAGATAGACCAAGACAG	0.532																																						uc001vxe.3																			0				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						c.(2041-2043)gtC>gtG		Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.							154	135	141					14																	20859812		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20859812G>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2043C>G	14.37:g.20859812G>C			Somatic				TEP1_uc010ahk.3_Silent_p.V31V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.V573V	p.V681V	NM_007110	NP_009041	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	12	2083	-	all_cancers(95;0.00123)	all_lung(585;0.235)	681					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.2043C>G	CCDS9548.1																																																																																				0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		22	184	0	0	0	1	0	22	184					C	20859812	G	C	20859812	2	2	194	1	0	0	0	0	0	0	0	1	15756	929	33	4		4	TEP1	14	20859812	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		20859812	86489728	27	3453											
FANCM	57697	broad.mit.edu	37	14	45656993	45656993	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:45656993T>C	ENST00000267430.5	+	19	4767	c.4682T>C	c.(4681-4683)aTg>aCg	p.M1561T	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.M1535T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1561					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						GATTCTGAAATGAGAGCTATT	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.4																			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.(4681-4683)aTg>aCg	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.							45	44	44					14																	45656993		2202	4295	6497	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	g.chr14:45656993T>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4682T>C	14.37:g.45656993T>C	ENSP00000267430:p.Met1561Thr		Somatic				FANCM_uc010anf.3_Missense_Mutation_p.M1535T|FANCM_uc001wwe.4_Missense_Mutation_p.M1097T|FANCM_uc010ang.3_Missense_Mutation_p.M775T	p.M1561T	NM_020937	NP_065988	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			18	4781	+			1561					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.4682T>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626408	0.66901	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.78003	-1.14;-1.14;-1.14	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	M	0.73962	2.25	0.43381	D	0.99548	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.977	D	0.87007	0.2120	10	0.45353	T	0.12	.	13.9376	0.64034	0.0:0.0:0.0:1.0	.	1535;1561	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	T	1561;1535;1077	ENSP00000267430:M1561T;ENSP00000442493:M1535T;ENSP00000452033:M1077T	ENSP00000267430:M1561T	M	+	2	0	FANCM	44726743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.658000	0.68003	1.980000	0.57719	0.533000	0.62120	ATG		0.254	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		14	8	0	0	0	1	0	14	8					C	45656993	T	C	45656993	3	2	194	1	0	0	0	0	1	0	0	0	5671	1464	51	3	4756	3	FANCM	14	45656993	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	24797181	45656993	61692547	28	3454											
HSP90AA1	3320	broad.mit.edu	37	14	102549628	102549628	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:102549628C>T	ENST00000216281.8	-	9	1703	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D622N|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D321N	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	500					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GCTACCTGGTCCTTGGTCTCA	0.418																																						uc001ykv.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1864-1866)Gac>Aac		Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 1, mRNA.	Rifabutin(DB00615)						114	110	112					14																	102549628		2203	4300	6503	SO:0001583	missense	3320				G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding	g.chr14:102549628C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1498G>A	14.37:g.102549628C>T	ENSP00000216281:p.Asp500Asn		Somatic				HSP90AA1_uc001yku.4_Missense_Mutation_p.D500N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D321N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D489N	p.D622N	NM_001017963	NP_005339	WXS	Illumina GAIIx	Phase_I	P07900	HS90A_HUMAN			9	2209	-			500					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1864G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	33	5.199221	0.94997	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.09911	2.93;2.93;2.93	4.44	4.44	0.53790	Ribosomal protein S5 domain 2-type fold (1);	0.180292	0.46145	U	0.000305	T	0.28034	0.0691	M	0.67569	2.06	0.80722	D	1	P;D;P	0.58620	0.528;0.983;0.941	P;P;P	0.58520	0.548;0.84;0.811	T	0.02966	-1.1088	10	0.54805	T	0.06	-40.3149	17.4478	0.87583	0.0:1.0:0.0:0.0	.	321;622;500	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	N	500;622;321	ENSP00000216281:D500N;ENSP00000335153:D622N;ENSP00000396189:D321N	ENSP00000216281:D500N	D	-	1	0	HSP90AA1	101619381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.565000	0.82337	2.192000	0.70111	0.655000	0.94253	GAC		0.418	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		6	77	0	0	0	1	0	6	77					T	102549628	C	T	102549628	3	4	194	1	0	0	0	0	1	0	0	0	7401	855	30	2	712	2	HSP90AA1	14	102549628	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08	56892635	102549628	4799912	29	3455											
RPUSD1	113000	broad.mit.edu	37	16	837116	837116	+	Missense_Mutation	SNP	C	C	T	rs2272898	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:837116C>T	ENST00000561734.1	-	3	613	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.E124K|RPUSD1_ENST00000567114.1_5'UTR|CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000565809.1_Intron|CHTF18_ENST00000455171.2_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	124			E -> Q (in dbSNP:rs2272898).		pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCCCGGCCCTCCGTGCTGTTC	0.692																																						uc002cka.3																			0				endometrium(3)|lung(2)|skin(2)	7						c.(370-372)Gag>Aag		Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.							43	41	42					16																	837116		2185	4299	6484	SO:0001583	missense	113000				pseudouridine synthesis		RNA binding|pseudouridine synthase activity	g.chr16:837116C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.370G>A	16.37:g.837116C>T	ENSP00000455026:p.Glu124Lys		Somatic				RPUSD1_uc002ckb.3_Missense_Mutation_p.E124K|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	p.E124K	NM_058192	NP_478072	WXS	Illumina GAIIx	Phase_I	Q9UJJ7	RUSD1_HUMAN			2	604	-		Hepatocellular(780;0.00335)	124		E -> Q (in dbSNP:rs2272898).			D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.370G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225172	0.58668	.	.	ENSG00000007376	ENST00000007264	T	0.21031	2.03	4.4	4.4	0.53042	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.101193	0.64402	D	0.000003	T	0.25158	0.0611	L	0.39245	1.2	0.80722	D	1	P	0.37423	0.594	B	0.43052	0.406	T	0.05954	-1.0854	10	0.62326	D	0.03	-24.6569	15.6996	0.77533	0.0:1.0:0.0:0.0	.	124	Q9UJJ7	RUSD1_HUMAN	K	124	ENSP00000007264:E124K	ENSP00000007264:E124K	E	-	1	0	RPUSD1	777117	1.000000	0.71417	0.520000	0.27837	0.749000	0.42624	6.911000	0.75746	2.277000	0.76020	0.549000	0.68633	GAG		0.692	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		4	55	0	0	0	1	0	4	55					T	837116	C	T	837116	3	4	194	1	0	0	0	0	1	0	0	0	13666	864	30	2	580	2	RPUSD1	16	837116	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		837116	89517637	30	3456											
DPH1	1801	broad.mit.edu	37	17	1943643	1943643	+	Missense_Mutation	SNP	G	G	A	rs201983229		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:1943643G>A	ENST00000263083.6	+	8	941	c.896G>A	c.(895-897)cGc>cAc	p.R299H	OVCA2_ENST00000572195.1_5'Flank|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_Missense_Mutation_p.R219H	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	299					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTTTGGGCCGCCAGGGCAGT	0.602																																						uc010vqs.2																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(925-927)cGc>cAc		Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.		G	HIS/ARG	2,3900		0,2,1949	49	50	49		896	5.1	1.0	17		49	0,8312		0,0,4156	yes	missense	DPH1	NM_001383.3	29	0,2,6105	AA,AG,GG		0.0,0.0513,0.0164	probably-damaging	299/444	1943643	2,12212	1951	4156	6107	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943643G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.896G>A	17.37:g.1943643G>A	ENSP00000263083:p.Arg299His		Somatic				DPH1_uc002fts.3_Missense_Mutation_p.R299H|DPH1_uc002ftt.3_Missense_Mutation_p.R283H|DPH1_uc010cjx.3_Missense_Mutation_p.R159H|DPH1_uc002ftv.3_Missense_Mutation_p.R55H|DPH1_uc002ftw.3_Missense_Mutation_p.R27H|OVCA2_uc002ftx.3_5'Flank	p.R309H	NM_001383	NP_001374	WXS	Illumina GAIIx	Phase_I	Q9BZG8	DPH1_HUMAN			6	932	+			299					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.926G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139864	0.94560	5.13E-4	0.0	ENSG00000108963	ENST00000263083	T	0.50548	0.74	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.89785	3.06	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.992	P;P;P	0.58928	0.848;0.848;0.848	T	0.79160	-0.1918	10	0.72032	D	0.01	-16.2111	17.1373	0.86743	0.0:0.0:1.0:0.0	.	309;309;299	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	H	299	ENSP00000263083:R299H	ENSP00000263083:R299H	R	+	2	0	DPH1	1890393	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.384000	0.79751	2.380000	0.81148	0.491000	0.48974	CGC		0.602	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		14	61	0	0	0	1	0	14	61					A	1943643	G	A	1943643	3	1	194	1	0	0	0	0	1	0	0	0	4719	1087	38	1	926	1	DPH1	17	1943643	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		1943643	79251567	31	3457											
ATAD5	79915	broad.mit.edu	37	17	29196274	29196274	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:29196274G>A	ENST00000321990.4	+	13	3700	c.3322G>A	c.(3322-3324)Ggt>Agt	p.G1108S		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1108					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTCTCGGGTGGCATAGA	0.393																																						uc002hfs.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3322-3324)Ggt>Agt		Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.							100	97	98					17																	29196274		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29196274G>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3322G>A	17.37:g.29196274G>A	ENSP00000313171:p.Gly1108Ser		Somatic				ATAD5_uc002hft.1_Missense_Mutation_p.G1005S	p.G1108S	NM_024857	NP_079133	WXS	Illumina GAIIx	Phase_I	Q96QE3	ATAD5_HUMAN			12	3665	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1108					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3322G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	5.505	0.278123	0.10403	.	.	ENSG00000176208	ENST00000321990	T	0.05786	3.39	5.62	3.43	0.39272	.	1.719510	0.03447	N	0.210105	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.004	T	0.33445	-0.9868	10	0.20046	T	0.44	.	10.0674	0.42313	0.1376:0.0:0.7407:0.1217	.	1108;1108	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	S	1108	ENSP00000313171:G1108S	ENSP00000313171:G1108S	G	+	1	0	ATAD5	26220400	0.612000	0.27000	0.003000	0.11579	0.067000	0.16453	3.316000	0.51960	1.363000	0.46019	0.591000	0.81541	GGT		0.393	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		8	49	0	0	0	1	0	8	49					A	29196274	G	A	29196274	3	1	194	1	0	0	0	0	1	0	0	0	1076	1232	43	2	3372	2	ATAD5	17	29196274	Missense_Mutation	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08	27252631	29196274	51998936	32	3458											
ZNF554	115196	broad.mit.edu	37	19	2827692	2827692	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:2827692C>T	ENST00000317243.5	+	3	402	c.204C>T	c.(202-204)aaC>aaT	p.N68N	ZNF554_ENST00000591265.1_Silent_p.N68N	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	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)		CTCAGAAGAACCTGTACAGAG	0.483																																						uc002lwm.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(202-204)aaC>aaT		Homo sapiens zinc finger protein 554 (ZNF554), mRNA.							95	107	103					19																	2827692		2202	4300	6502	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2827692C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.204C>T	19.37:g.2827692C>T			Somatic				ZNF554_uc002lwl.2_Silent_p.N17N	p.N68N	NM_001102651	NP_001096121	WXS	Illumina GAIIx	Phase_I	Q86TJ5	ZN554_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	402	+		Hepatocellular(1079;0.137)	68			KRAB.		Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.204C>T	CCDS42462.1																																																																																				0.483	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		14	50	0	0	0	1	0	14	50					T	2827692	C	T	2827692	2	4	194	1	0	0	0	0	0	0	0	1	17982	506	18	2		2	ZNF554	19	2827692	Silent	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		2827692	56301291	33	3459											
ZNF709	163051	broad.mit.edu	37	19	12577553	12577553	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:12577553T>C	ENST00000397732.3	-	2	286	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF709_ENST00000428311.1_Missense_Mutation_p.N39D|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	39	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GAGGCCAAGTTAACAAAGGTT	0.428																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.4																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(115-117)Aac>Gac		Homo sapiens zinc finger protein 709 (ZNF709), mRNA.							94	95	95					19																	12577553		2200	4297	6497	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12577553T>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.115A>G	19.37:g.12577553T>C	ENSP00000380840:p.Asn39Asp		Somatic				ZNF709_uc002mtw.4_Missense_Mutation_p.N7D|ZNF709_uc002mtx.4_Missense_Mutation_p.N39D	p.N39D	NM_152601	NP_689814	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			1	276	-			39			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.115A>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821814	0.71028	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.02345	4.33;4.33;4.33	3.19	2.13	0.27403	Krueppel-associated box (4);	0.000000	0.38778	N	0.001565	T	0.17280	0.0415	M	0.93854	3.465	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03443	-1.1036	10	0.66056	D	0.02	.	7.6922	0.28575	0.0:0.0:0.2146:0.7853	.	39	Q8N972	ZN709_HUMAN	D	39;68;39	ENSP00000380840:N39D;ENSP00000398085:N68D;ENSP00000404127:N39D	ENSP00000404127:N39D	N	-	1	0	ZNF709;CTD-2192J16.17	12438553	0.002000	0.14202	0.034000	0.17996	0.932000	0.56968	1.092000	0.30927	0.582000	0.29556	0.402000	0.26972	AAC		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	45	0	0	0	1	0	5	45					C	12577553	T	C	12577553	3	2	194	1	0	0	0	0	1	0	0	0	18110	1754	61	3	1822	3	ZNF709	19	12577553	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	9749861	12577553	46551430	34	3460											
C19orf57	79173	broad.mit.edu	37	19	14003691	14003691	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:14003691T>C	ENST00000586783.1	-	4	300	c.301A>G	c.(301-303)Agg>Ggg	p.R101G	C19orf57_ENST00000591586.1_Missense_Mutation_p.R101G|C19orf57_ENST00000346736.2_Missense_Mutation_p.R101G|C19orf57_ENST00000454313.1_Missense_Mutation_p.R101G			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	101					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGAACAAACCTCCCGAATGAG	0.458																																						uc002mxl.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(301-303)Agg>Ggg		Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.							102	95	97					19																	14003691		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14003691T>C	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.301A>G	19.37:g.14003691T>C	ENSP00000465822:p.Arg101Gly		Somatic				C19orf57_uc002mxk.1_5'UTR	p.R101G	NM_024323	NP_077299	WXS	Illumina GAIIx	Phase_I	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		4	360	-			101					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	T	15.67	2.903463	0.52333	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.36878	1.23;1.23	4.85	4.85	0.62838	.	0.314770	0.23265	N	0.050083	T	0.45617	0.1351	L	0.32530	0.975	0.26347	N	0.97727	D	0.71674	0.998	D	0.66979	0.948	T	0.31558	-0.9939	10	0.72032	D	0.01	-17.5688	10.9823	0.47501	0.0:0.0:0.0:1.0	.	101	Q0VDD7-2	.	G	101	ENSP00000404382:R101G;ENSP00000254336:R101G	ENSP00000254336:R101G	R	-	1	2	C19orf57	13864691	0.970000	0.33590	0.665000	0.29768	0.333000	0.28666	3.492000	0.53259	2.151000	0.67156	0.459000	0.35465	AGG		0.458	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		23	29	0	0	0	1	0	23	29					C	14003691	T	C	14003691	3	2	194	1	0	0	0	0	1	0	0	0	1939	1550	54	3	1628	3	C19orf57	19	14003691	Missense_Mutation	SNP	T	TCGA-EL-A3MX-01A-11D-A21A-08	1426138	14003691	45125292	35	3461											
PRIC285	85441	broad.mit.edu	37	20	62198499	62198499	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr20:62198499delC	ENST00000467148.1	-	6	2281	c.2212delG	c.(2212-2214)gtcfs	p.V738fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V169fs|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	738	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)										TCGTGGAAGACCAGGCGGCTC	0.667																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(2212-2214)gtcfs		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							51	52	52					20																	62198499		2202	4298	6500	SO:0001589	frameshift_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding	g.chr20:62198499delC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2212delG	20.37:g.62198499delC	ENSP00000417401:p.Val738fs		Somatic				PRIC285_uc002yfl.1_Frame_Shift_Del_p.V169fs	p.V738fs	NM_001037335	NP_001032412	WXS	Illumina GAIIx	Phase_I	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	3104	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		738					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.2212delG	CCDS33508.1																																																																																				0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		38	68						38	68	---	---	---	---	-	62198499	C	-	62198499	7	5	194	1	0	1	0	1	0	0	0	0	12485	507	18	0	5793	0	PRIC285	20	62198499	Frame_Shift_Del	DEL	C	TCGA-EL-A3MX-01A-11D-A21A-08		62198499	827021	36	3462											
TCF20	6942	broad.mit.edu	37	22	42610592	42610592	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:42610592G>A	ENST00000359486.3	-	1	856	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_ENST00000335626.4_Silent_p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	240	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512																																						uc003bcj.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(718-720)tcC>tcT		Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.							97	82	87					22																	42610592		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610592G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.720C>T	22.37:g.42610592G>A			Somatic				TCF20_uc003bck.1_Silent_p.S240S	p.S240S	NM_005650	NP_005641	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			0	854	-			240			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.720C>T	CCDS14033.1																																																																																				0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		3	75	0	0	0	1	0	3	75					A	42610592	G	A	42610592	2	1	194	1	0	0	0	0	0	0	0	1	15687	987	35	2		2	TCF20	22	42610592	Silent	SNP	G	TCGA-EL-A3MX-01A-11D-A21A-08		42610592	8693974	37	3463											
GPR101	83550	broad.mit.edu	37	X	136112949	136112949	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chrX:136112949C>G	ENST00000298110.1	-	1	884	c.885G>C	c.(883-885)gaG>gaC	p.E295D		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	295						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)					CTACACTACTCTCACTGGTCC	0.617																																						uc011mwh.2																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(883-885)gaG>gaC		Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.							223	153	177					X																	136112949		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112949C>G	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.885G>C	X.37:g.136112949C>G	ENSP00000298110:p.Glu295Asp		Somatic					p.E295D	NM_054021	NP_473362	WXS	Illumina GAIIx	Phase_I	Q96P66	GP101_HUMAN			0	885	-	Acute lymphoblastic leukemia(192;0.000127)		295					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.885G>C	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	0.544	-0.852336	0.02651	.	.	ENSG00000165370	ENST00000298110	T	0.63255	-0.03	3.84	-0.164	0.13359	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.18650	-1.0330	9	0.13853	T	0.58	-4.8903	3.9819	0.09498	0.3183:0.4773:0.0:0.2043	.	295	Q96P66	GP101_HUMAN	D	295	ENSP00000298110:E295D	ENSP00000298110:E295D	E	-	3	2	GPR101	135940615	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	0.235000	0.17948	-0.169000	0.10834	0.600000	0.82982	GAG		0.617	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			30	262	0	0	0	1	0	30	262					G	136112949	C	G	136112949	3	3	194	1	0	0	0	0	1	0	0	0	6622	912	32	4	644	4	GPR101	23	136112949	Missense_Mutation	SNP	C	TCGA-EL-A3MX-01A-11D-A21A-08		136112949	19157611	38	3464											
PGBD2	267002	broad.mit.edu	37	1	249211207	249211207	+	Missense_Mutation	SNP	G	G	T	rs367674534		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr1:249211207G>T	ENST00000329291.5	+	3	571	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	PGBD2_ENST00000539153.1_Missense_Mutation_p.V139L|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	142										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTGAGTCCCGTGGGCCTTTT	0.398																																						uc001ifh.3																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(424-426)Gtg>Ttg		Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.							62	70	67					1																	249211207		2201	4300	6501	SO:0001583	missense	267002							g.chr1:249211207G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.424G>T	1.37:g.249211207G>T	ENSP00000331643:p.Val142Leu		Somatic				PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Missense_Mutation_p.V139L|PGBD2_uc021pmh.1_5'Flank	p.V142L	NM_170725	NP_001017434	WXS	Illumina GAIIx	Phase_I	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	571	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	142					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.424G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951177	0.53186	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.18960	2.18;2.18	4.18	4.18	0.49190	.	0.000000	0.30473	U	0.009559	T	0.33294	0.0858	L	0.49350	1.555	0.24069	N	0.995988	D;D	0.76494	0.982;0.999	P;D	0.85130	0.88;0.997	T	0.14699	-1.0463	10	0.06757	T	0.87	-25.4058	12.2179	0.54416	0.0:0.0:1.0:0.0	.	139;142	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	L	142;139	ENSP00000331643:V142L;ENSP00000439950:V139L	ENSP00000331643:V142L	V	+	1	0	PGBD2	247177830	0.998000	0.40836	0.812000	0.32479	0.721000	0.41392	2.096000	0.41738	2.331000	0.79229	0.655000	0.94253	GTG		0.398	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			13	35	0	0	0	1	0	13	35					T	249211207	G	T	249211207	3	4	195	1	0	0	0	0	1	0	0	0	11781	1145	40	4	430	4	PGBD2	1	249211207	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		249211207	39414	1	3465											
TTN	7273	broad.mit.edu	37	2	179402314	179402314	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:179402314T>C	ENST00000591111.1	-	305	94921	c.94697A>G	c.(94696-94698)tAt>tGt	p.Y31566C	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y33207C|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y30639C|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y24142C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y24267C|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y24334C			Q8WZ42	TITIN_HUMAN	titin	31566					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)			CACAGCTCCATAATATTTCTC	0.458																																						uc021vsy.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.(91915-91917)tAt>tGt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							78	78	78					2																	179402314		1878	4108	5986	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402314T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94697A>G	2.37:g.179402314T>C	ENSP00000465570:p.Tyr31566Cys		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y24334C|TTN_uc021vta.1_Missense_Mutation_p.Y24267C|TTN_uc021vtb.1_Missense_Mutation_p.Y24142C	p.Y30639C	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	92141	-			31566			Fibronectin type-III 123.		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.91916A>G		.	.	.	.	.	.	.	.	.	.	T	12.55	1.971308	0.34754	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.89	5.89	0.94794	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20536	0.0494	N	0.03608	-0.345	0.41560	D	0.988627	B;B;B;B	0.20261	0.043;0.043;0.043;0.024	B;B;B;B	0.20577	0.03;0.03;0.03;0.03	T	0.09773	-1.0659	9	0.87932	D	0	.	6.6093	0.22743	0.1376:0.0715:0.0:0.7908	.	24142;24267;24334;31566	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	30639;24142;24334;24267;24139	ENSP00000343764:Y30639C;ENSP00000434586:Y24142C;ENSP00000340554:Y24334C;ENSP00000352154:Y24267C	ENSP00000340554:Y24334C	Y	-	2	0	TTN	179110560	0.987000	0.35691	1.000000	0.80357	0.991000	0.79684	2.114000	0.41911	2.257000	0.74773	0.460000	0.39030	TAT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	37	0	0	0	1	0	3	37					C	179402314	T	C	179402314	3	2	195	1	0	0	0	0	1	0	0	0	16732	1406	49	3	8391	3	TTN	2	179402314	Missense_Mutation	SNP	T	TCGA-EL-A3MY-01A-11D-A21A-08		179402314	63797059	2	3466											
COL4A4	1286	broad.mit.edu	37	2	227875182	227875182	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr2:227875182C>G	ENST00000396625.3	-	46	4576	c.4369G>C	c.(4369-4371)Ggg>Cgg	p.G1457R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1454R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1457	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCCAAACCCTTTGGGCCCA	0.572																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4369-4371)Ggg>Cgg		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							25	25	25					2																	227875182		1842	4092	5934	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227875182C>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4369G>C	2.37:g.227875182C>G	ENSP00000379866:p.Gly1457Arg		Somatic				COL4A4_uc021vxs.1_Missense_Mutation_p.G1454R	p.G1457R	NM_000092	NP_000083	WXS	Illumina GAIIx	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	44	4470	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1457			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4369G>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165708	0.38217	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99429	-5.89;-5.89	5.69	5.69	0.88448	.	.	.	.	.	D	0.99619	0.9861	H	0.94183	3.505	0.39561	D	0.969137	D	0.76494	0.999	D	0.75020	0.985	D	0.98200	1.0467	9	0.72032	D	0.01	.	13.0739	0.59077	0.0:0.9268:0.0:0.0732	.	1457	P53420	CO4A4_HUMAN	R	1457;1454	ENSP00000379866:G1457R;ENSP00000328553:G1454R	ENSP00000328553:G1454R	G	-	1	0	COL4A4	227583426	0.996000	0.38824	0.962000	0.40283	0.478000	0.33099	3.291000	0.51764	2.687000	0.91594	0.655000	0.94253	GGG		0.572	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		6	21	0	0	0	1	0	6	21					G	227875182	C	G	227875182	3	3	195	1	0	0	0	0	1	0	0	0	3693	681	24	4	715	4	COL4A4	2	227875182	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	48472868	227875182	15324191	3	3467											
TNIP2	79155	broad.mit.edu	37	4	2757866	2757866	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:2757866delG	ENST00000315423.7	-	1	237	c.151delC	c.(151-153)cgcfs	p.R51fs	TNIP2_ENST00000503235.1_Frame_Shift_Del_p.R51fs|TNIP2_ENST00000510267.1_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)		GCGGCCAGGCGGGCGCGGAGG	0.761																																						uc003gfg.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(151-153)cgcfs		Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.							2	2	2					4																	2757866		1279	2739	4018	SO:0001589	frameshift_variant	79155					cytosol	protein binding	g.chr4:2757866delG	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.151delC	4.37:g.2757866delG	ENSP00000321203:p.Arg51fs		Somatic				TNIP2_uc003gff.2_5'Flank	p.R51fs	NM_024309	NP_001154999	WXS	Illumina GAIIx	Phase_I	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	0	238	-			51						Frame_Shift_Del	DEL	ENST00000315423.7	37	c.151delC	CCDS3362.1																																																																																				0.761	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		2	4						2	4	---	---	---	---	-	2757866	G	-	2757866	7	5	195	1	0	1	0	1	0	0	0	0	16312	1116	39	0	1162	0	TNIP2	4	2757866	Frame_Shift_Del	DEL	G	TCGA-EL-A3MY-01A-11D-A21A-08		2757866	188396410	4	3468											
PITX2	5308	broad.mit.edu	37	4	111539506	111539506	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr4:111539506A>T	ENST00000354925.2	-	7	2434	c.729T>A	c.(727-729)aaT>aaA	p.N243K	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394595.3_Nonstop_Mutation_p.*175K|PITX2_ENST00000394598.2_Missense_Mutation_p.N243K|PITX2_ENST00000306732.3_Missense_Mutation_p.N250K|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000355080.5_Missense_Mutation_p.N197K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	243					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II 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 transcription coactivator activity (GO:0001105)|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)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGTTCAAGTTATTCAGGCTGT	0.582																																						uc003iac.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(748-750)aaT>aaA		Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA.							56	59	58					4																	111539506		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539506A>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.729T>A	4.37:g.111539506A>T	ENSP00000347004:p.Asn243Lys		Somatic				PITX2_uc003iaf.3_Missense_Mutation_p.N243K|PITX2_uc003iad.3_Missense_Mutation_p.N243K|PITX2_uc021xqr.1_Missense_Mutation_p.N243K|PITX2_uc003iae.3_Missense_Mutation_p.N197K|PITX2_uc021xqs.1_Missense_Mutation_p.N197K	p.N250K	NM_000325	NP_000316	WXS	Illumina GAIIx	Phase_I	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	2	1388	-		Hepatocellular(203;0.217)	243					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.750T>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.208825|2.208825	0.39003|0.39003	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837|ENST00000394595	D;D;D;D;D|.	0.92699|.	-2.74;-2.86;-3.0;-2.86;-3.09|.	5.68|5.68	1.91|1.91	0.25777|0.25777	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.52533|.	0.1740|.	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	1|1	B;D;P;P|.	0.61080|.	0.349;0.989;0.695;0.481|.	B;D;B;B|.	0.70487|.	0.108;0.969;0.114;0.217|.	T|.	0.42916|.	-0.9423|.	10|.	0.29301|.	T|.	0.29|.	.|.	9.9959|9.9959	0.41898|0.41898	0.6677:0.0:0.3323:0.0|0.6677:0.0:0.3323:0.0	.|.	197;197;243;250|.	A8K6C6;Q99697-3;Q99697;Q99697-2|.	.;.;PITX2_HUMAN;.|.	K|K	250;243;197;243;243|175	ENSP00000304169:N250K;ENSP00000378097:N243K;ENSP00000347192:N197K;ENSP00000347004:N243K;ENSP00000421454:N243K|.	ENSP00000304169:N250K|.	N|X	-|-	3|1	2|0	PITX2|PITX2	111758955|111758955	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	.|.	.|.	0.111000|0.111000	0.17947|0.17947	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.582	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			28	68	0	0	0	1	0	28	68					T	111539506	A	T	111539506	3	4	195	1	0	0	0	0	1	0	0	0	11955	446	16	5	228	5	PITX2	4	111539506	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	108781640	111539506	79614770	5	3469											
IRX2	153572	broad.mit.edu	37	5	2748624	2748624	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr5:2748624C>A	ENST00000382611.6	-	3	1446	c.1198G>T	c.(1198-1200)Gcg>Tcg	p.A400S	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.A400S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	400					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCGCCGCGTTCAAGTTC	0.706																																						uc003jda.3																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(1198-1200)Gcg>Tcg		Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.							37	38	38					5																	2748624		2189	4286	6475	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748624C>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1198G>T	5.37:g.2748624C>A	ENSP00000372056:p.Ala400Ser		Somatic				IRX2_uc003jdb.3_Missense_Mutation_p.A400S	p.A400S	NM_001134222	NP_150366	WXS	Illumina GAIIx	Phase_I	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	1440	-			400					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.1198G>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511595	0.27036	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.64803	-0.12;-0.12	4.43	4.43	0.53597	.	0.067153	0.64402	D	0.000011	T	0.51295	0.1666	L	0.39898	1.24	0.35681	D	0.81406	B	0.31040	0.305	B	0.25884	0.064	T	0.57596	-0.7784	10	0.16420	T	0.52	-19.73	17.4343	0.87547	0.0:1.0:0.0:0.0	.	400	Q9BZI1	IRX2_HUMAN	S	400	ENSP00000372056:A400S;ENSP00000307006:A400S	ENSP00000307006:A400S	A	-	1	0	IRX2	2801624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.982000	0.70532	2.184000	0.69523	0.561000	0.74099	GCG		0.706	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			40	78	0	0	0	1	0	40	78					A	2748624	C	A	2748624	3	1	195	1	0	0	0	0	1	0	0	0	7844	768	27	4	225	4	IRX2	5	2748624	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08		2748624	178166636	6	3470											
E2F3	1871	broad.mit.edu	37	6	20486987	20486987	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:20486987G>T	ENST00000346618.3	+	5	1018	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L	E2F3_ENST00000535432.1_Missense_Mutation_p.V187L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	318	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGTTATAGTTGTGAAAGCCCC	0.383																																						uc003nda.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(952-954)Gtg>Ttg		Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.							84	76	79					6																	20486987		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20486987G>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.952G>T	6.37:g.20486987G>T	ENSP00000262904:p.Val318Leu		Somatic				E2F3_uc021ymj.1_Missense_Mutation_p.V187L	p.V318L	NM_001949	NP_001940	WXS	Illumina GAIIx	Phase_I	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		4	1279	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		318			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.952G>T	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808216	0.70797	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.90732	-2.72;-2.72	5.93	5.06	0.68205	.	0.119035	0.56097	N	0.000023	D	0.84710	0.5532	L	0.59436	1.845	0.58432	D	0.999999	P	0.45986	0.87	B	0.43194	0.411	D	0.86007	0.1498	10	0.56958	D	0.05	.	10.467	0.44614	0.069:0.1349:0.7961:0.0	.	318	O00716	E2F3_HUMAN	L	318;187	ENSP00000262904:V318L;ENSP00000443418:V187L	ENSP00000262904:V318L	V	+	1	0	E2F3	20594966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.765000	0.74965	1.495000	0.48549	0.561000	0.74099	GTG		0.383	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			11	39	0	0	0	1	0	11	39					T	20486987	G	T	20486987	3	4	195	1	0	0	0	0	1	0	0	0	4868	1377	48	4	970	4	E2F3	6	20486987	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		20486987	150628080	7	3471											
FAM120B	84498	broad.mit.edu	37	6	170628184	170628184	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr6:170628184C>T	ENST00000476287.1	+	2	1814	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.T592I|FAM120B_ENST00000540480.1_Missense_Mutation_p.T581I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	569					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAACAAGTAACCATGGTTTCA	0.388																																						uc003qxp.3																			0		p.V568L(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1705-1707)aCc>aTc		Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.							47	51	49					6																	170628184		2200	4297	6497	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170628184C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1706C>T	6.37:g.170628184C>T	ENSP00000417970:p.Thr569Ile		Somatic				FAM120B_uc003qxo.1_Missense_Mutation_p.T569I|FAM120B_uc011ehd.2_Intron	p.T569I	NM_032448	NP_115824	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	1	1814	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	569					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1706C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241785	0.58995	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.10005	2.93;2.92;2.94	4.0	4.0	0.46444	.	0.979946	0.08367	N	0.956701	T	0.09512	0.0234	L	0.48642	1.525	0.80722	D	1	P;P	0.50528	0.936;0.922	P;P	0.52189	0.692;0.614	T	0.30822	-0.9965	10	0.18710	T	0.47	-4.1795	11.9003	0.52680	0.0:1.0:0.0:0.0	.	569;569	Q96EK7;F2Z2E1	F120B_HUMAN;.	I	581;592;569	ENSP00000444125:T581I;ENSP00000440125:T592I;ENSP00000417970:T569I	ENSP00000436640:T569I	T	+	2	0	FAM120B	170470109	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.156000	0.50708	2.536000	0.85505	0.561000	0.74099	ACC		0.388	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		10	27	0	0	0	1	0	10	27					T	170628184	C	T	170628184	3	4	195	1	0	0	0	0	1	0	0	0	5417	507	18	2	1708	2	FAM120B	6	170628184	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08	150141197	170628184	486883	8	3472											
AGR2	10551	broad.mit.edu	37	7	16839390	16839390	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:16839390T>C	ENST00000419304.2	-	5	460	c.308A>G	c.(307-309)cAg>cGg	p.Q103R	AGR2_ENST00000419572.2_Missense_Mutation_p.Q123R|AGR2_ENST00000401412.1_Missense_Mutation_p.Q103R	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	103					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGGACAAACTGCTCTGCCAA	0.308																																						uc003str.3																			0				endometrium(2)|lung(1)|prostate(1)|skin(2)	6						c.(307-309)cAg>cGg		Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.							164	166	165					7																	16839390		2203	4299	6502	SO:0001583	missense	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16839390T>C	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"Protein disulfide isomerases"	328	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 17"	606358	"anterior gradient 2 homolog (Xenopus laevis)"			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.308A>G	7.37:g.16839390T>C	ENSP00000391490:p.Gln103Arg		Somatic					p.Q103R	NM_006408	NP_006399	WXS	Illumina GAIIx	Phase_I	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	4	495	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		103						Missense_Mutation	SNP	ENST00000419304.2	37	c.308A>G	CCDS5364.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703253	0.48412	.	.	ENSG00000106541	ENST00000419304;ENST00000450569;ENST00000419572;ENST00000401412;ENST00000412973	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.1	5.1	0.69264	Thioredoxin-like fold (2);	0.121273	0.56097	D	0.000027	T	0.29355	0.0731	N	0.11927	0.2	0.33620	D	0.604711	B	0.09022	0.002	B	0.23150	0.044	T	0.40232	-0.9574	10	0.87932	D	0	-16.1632	14.5894	0.68354	0.0:0.0:0.0:1.0	.	103	O95994	AGR2_HUMAN	R	103;33;123;103;103	ENSP00000391490:Q103R;ENSP00000388342:Q123R;ENSP00000386025:Q103R;ENSP00000411969:Q103R	ENSP00000386025:Q103R	Q	-	2	0	AGR2	16805915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.906000	0.56340	1.931000	0.55961	0.454000	0.30748	CAG		0.308	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2	NM_006408		6	18	0	0	0	1	0	6	18					C	16839390	T	C	16839390	3	2	195	1	0	0	0	0	1	0	0	0	395	1580	55	3	235	3	AGR2	7	16839390	Missense_Mutation	SNP	T	TCGA-EL-A3MY-01A-11D-A21A-08		16839390	142299273	9	3473											
C7orf47	221908	broad.mit.edu	37	7	100033362	100033362	+	Silent	SNP	G	G	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:100033362G>C	ENST00000292330.2	-	3	670	c.480C>G	c.(478-480)ctC>ctG	p.L160L	RP11-758P17.3_ENST00000475250.1_RNA|PPP1R35_ENST00000476185.1_Intron|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	160					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGTCCCGGAAGAGCCGCTTGG	0.721																																						uc003uuy.1																			0											c.(478-480)ctC>ctG		Homo sapiens protein phosphatase 1, regulatory subunit 35 (PPP1R35), mRNA.							13	15	14					7																	100033362		2194	4292	6486	SO:0001819	synonymous_variant	221908							g.chr7:100033362G>C	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28320	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 47"	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.480C>G	7.37:g.100033362G>C			Somatic					p.L160L	NM_145030	NP_659467	WXS	Illumina GAIIx	Phase_I	Q8TAP8	CG047_HUMAN			2	577	-			160					A4D2C5	Silent	SNP	ENST00000292330.2	37	c.480C>G	CCDS5694.1																																																																																				0.721	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2	NM_145030		3	8	0	0	0	1	0	3	8					C	100033362	G	C	100033362	2	2	195	1	0	0	0	0	0	0	0	1	2397	929	33	4		4	C7orf47	7	100033362	Silent	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08	83193972	100033362	59105301	10	3474											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	38	0	0	0	1	0	12	38					T	140453136	A	T	140453136	3	4	195	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	40419774	140453136	18685527	11	3475											
C10orf18	54906	broad.mit.edu	37	10	5781833	5781833	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:5781833A>C	ENST00000328090.5	+	13	2325	c.1700A>C	c.(1699-1701)gAt>gCt	p.D567A	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	567																	CCACAAAATGATGTTTTGCTC	0.378																																						uc001iij.3																			0											c.(1699-1701)gAt>gCt		Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.							90	84	86					10																	5781833		1856	4093	5949	SO:0001583	missense	54906							g.chr10:5781833A>C	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1700A>C	10.37:g.5781833A>C	ENSP00000328426:p.Asp567Ala		Somatic				FAM208B_uc001iik.3_Intron	p.D567A	NM_017782	NP_060252	WXS	Illumina GAIIx	Phase_I	Q5VWN6	CJ018_HUMAN			12	2325	+			567					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1700A>C	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	8.339	0.828256	0.16749	.	.	ENSG00000108021	ENST00000328090	D	0.96940	-4.18	5.7	4.57	0.56435	.	0.698059	0.14004	N	0.347915	D	0.93867	0.8038	L	0.44542	1.39	0.09310	N	1	P	0.39352	0.669	B	0.41374	0.355	D	0.88174	0.2866	10	0.62326	D	0.03	.	8.4131	0.32655	0.8433:0.0:0.1567:0.0	.	567	Q5VWN6	F208B_HUMAN	A	567	ENSP00000328426:D567A	ENSP00000328426:D567A	D	+	2	0	C10orf18	5821839	0.017000	0.18338	0.010000	0.14722	0.063000	0.16089	0.631000	0.24568	0.993000	0.38866	0.402000	0.26972	GAT		0.378	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		21	43	0	0	0	1	0	21	43					C	5781833	A	C	5781833	3	2	195	1	0	0	0	0	1	0	0	0	1596	333	12	5	1738	5	C10orf18	10	5781833	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08		5781833	129752914	12	3476											
TACC2	10579	broad.mit.edu	37	10	123842613	123842613	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr10:123842613A>G	ENST00000369005.1	+	4	938	c.598A>G	c.(598-600)Atg>Gtg	p.M200V	TACC2_ENST00000334433.3_Missense_Mutation_p.M200V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.M200V|TACC2_ENST00000515273.1_Missense_Mutation_p.M200V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.M200V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	200					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCACCTGGAATGTCGCCAGT	0.582																																						uc001lfv.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(598-600)Atg>Gtg		Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.							33	31	32					10																	123842613		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842613A>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.598A>G	10.37:g.123842613A>G	ENSP00000358001:p.Met200Val		Somatic				TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.M200V|TACC2_uc010qtv.2_Missense_Mutation_p.M200V	p.M200V	NM_206862	NP_996744	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			3	958	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	200					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.598A>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	6.786	0.514079	0.12944	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02525	4.26;4.27;4.27;4.26;4.27	5.72	0.706	0.18133	.	0.978077	0.08303	N	0.966559	T	0.01558	0.0050	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.48681	-0.9014	10	0.11182	T	0.66	2.1058	9.2055	0.37287	0.6161:0.0:0.3839:0.0	.	200;200;200	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	200;200;200;200;200;190	ENSP00000358001:M200V;ENSP00000424467:M200V;ENSP00000427618:M200V;ENSP00000334280:M200V;ENSP00000395048:M200V	ENSP00000334280:M200V	M	+	1	0	TACC2	123832603	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.130000	0.10498	0.114000	0.18032	0.528000	0.53228	ATG		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			17	33	0	0	0	1	0	17	33					G	123842613	A	G	123842613	3	3	195	1	0	0	0	0	1	0	0	0	15499	101	4	3	608	3	TACC2	10	123842613	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08	118060780	123842613	11692134	13	3477											
CD3D	915	broad.mit.edu	37	11	118209888	118209888	+	Missense_Mutation	SNP	G	G	A	rs367800432		TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr11:118209888G>A	ENST00000300692.4	-	5	641	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CD3D_ENST00000529594.1_Missense_Mutation_p.R96W|CD3D_ENST00000392884.2_Missense_Mutation_p.R125W	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	169					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	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;3.04e-05)	Muromonab(DB00075)	CACTTGTTCCGAGCCCAGTTT	0.502																																						uc001pss.1																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9						c.(505-507)Cgg>Tgg		Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.		G	TRP/ARG,TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	119	110	113		505,373	1.0	0.1	11		113	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CD3D	NM_000732.4,NM_001040651.1	101,101	0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	169/172,125/128	118209888	2,12990	2200	4296	6496	SO:0001583	missense	915				T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118209888G>A	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"CD molecules"	1673	protein-coding gene	gene with protein product		186790	"CD3d antigen, delta polypeptide (TiT3 complex)"	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.505C>T	11.37:g.118209888G>A	ENSP00000300692:p.Arg169Trp		Somatic				CD3D_uc001pst.1_Missense_Mutation_p.R125W|CD3D_uc021qrf.1_Missense_Mutation_p.R96W	p.R169W	NM_000732	NP_000723	WXS	Illumina GAIIx	Phase_I	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	642	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	169					A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.505C>T	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981355|2.981355	0.53827|0.53827	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000167286|ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884|ENST00000534687	T;T;T|.	0.71817|.	-0.6;-0.45;0.48|.	5.18|5.18	1.03|1.03	0.20045|0.20045	.|.	0.361176|.	0.23660|.	N|.	0.045834|.	T|T	0.48804|0.48804	0.1520|0.1520	M|M	0.81802|0.81802	2.56|2.56	0.18873|0.18873	N|N	0.999986|0.999986	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.995;0.995|.	T|T	0.44283|0.44283	-0.9338|-0.9338	10|5	0.87932|.	D|.	0|.	-4.8893|-4.8893	4.0466|4.0466	0.09776|0.09776	0.177:0.0:0.4972:0.3257|0.177:0.0:0.4972:0.3257	.|.	125;169|.	A8MVP6;P04234|.	.;CD3D_HUMAN|.	W|L	169;96;125|129	ENSP00000300692:R169W;ENSP00000437335:R96W;ENSP00000376622:R125W|.	ENSP00000300692:R169W|.	R|S	-|-	1|2	2|0	CD3D|CD3D	117715098|117715098	0.353000|0.353000	0.24904|0.24904	0.060000|0.060000	0.19600|0.19600	0.787000|0.787000	0.44495|0.44495	1.147000|1.147000	0.31602|0.31602	0.353000|0.353000	0.24079|0.24079	-0.188000|-0.188000	0.12872|0.12872	CGG|TCG		0.502	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		31	112	0	0	0	1	0	31	112					A	118209888	G	A	118209888	3	1	195	1	0	0	0	0	1	0	0	0	3010	1057	37	1	14	1	CD3D	11	118209888	Missense_Mutation	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		118209888	16796628	14	3478											
C15orf63	25764	broad.mit.edu	37	15	44093364	44093364	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr15:44093364A>G	ENST00000406925.1	+	3	4332	c.221A>G	c.(220-222)gAg>gGg	p.E74G	SERINC4_ENST00000249714.3_5'Flank|SERINC4_ENST00000319327.6_5'Flank|HYPK_ENST00000442995.2_Missense_Mutation_p.E74G|SERF2_ENST00000600633.1_Missense_Mutation_p.E74G|RP11-296A16.1_ENST00000417761.2_5'Flank|SERF2_ENST00000594896.1_Missense_Mutation_p.E120G|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000458412.1_Intron|SERINC4_ENST00000299969.6_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		AGGTCCCGGGAGCAGAAAGCC	0.493																																						uc001ztb.3																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(358-360)gAg>gGg		Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.							87	79	82					15																	44093364		2198	4298	6496	SO:0001583	missense	25764							g.chr15:44093364A>G	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"Huntingtin yeast partner K"	612784	"chromosome 15 open reading frame 63"	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.221A>G	15.37:g.44093364A>G	ENSP00000384474:p.Glu74Gly		Somatic				ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.E74G|C15orf63_uc021skf.1_Intron|C15orf63_uc001ztg.1_Intron	p.E120G	NM_016400	NP_057484	WXS	Illumina GAIIx	Phase_I	Q9NX55	HYPK_HUMAN			3	842	+			74					C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	ENST00000406925.1	37	c.359A>G	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165387	0.94768	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.79123	2.44	0.80722	D	1	D	0.69078	0.997	P	0.58721	0.844	T	0.70795	-0.4775	10	0.72032	D	0.01	-21.5167	15.4975	0.75666	1.0:0.0:0.0:0.0	.	74	Q9NX55	HYPK_HUMAN	G	74	ENSP00000384474:E74G;ENSP00000401155:E74G	ENSP00000384474:E74G	E	+	2	0	C15orf63	41880656	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.847000	0.92166	2.324000	0.78689	0.533000	0.62120	GAG		0.493	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		16	83	0	0	0	1	0	16	83					G	44093364	A	G	44093364	3	3	195	1	0	0	0	0	1	0	0	0	1809	304	11	3	227	3	C15orf63	15	44093364	Missense_Mutation	SNP	A	TCGA-EL-A3MY-01A-11D-A21A-08		44093364	58438028	15	3479											
CDH11	1009	broad.mit.edu	37	16	64984728	64984728	+	Silent	SNP	G	G	A			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr16:64984728G>A	ENST00000268603.4	-	12	2451	c.1836C>T	c.(1834-1836)aaC>aaT	p.N612N	CDH11_ENST00000566827.1_Silent_p.N486N|CDH11_ENST00000394156.3_Silent_p.N612N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	612	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)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCAGGCCGGCGTTCAGAATGT	0.632			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1834-1836)aaC>aaT		Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.							91	69	77					16																	64984728		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984728G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1836C>T	16.37:g.64984728G>A		TSP Lung(24;0.17)	Somatic				CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.N612N|CDH11_uc010vin.2_Silent_p.N486N	p.N612N	NM_001797	NP_001788	WXS	Illumina GAIIx	Phase_I	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	11	2270	-		Ovarian(137;0.0973)	612			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1836C>T	CCDS10803.1																																																																																				0.632	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		27	61	0	0	0	1	0	27	61					A	64984728	G	A	64984728	2	1	195	1	0	0	0	0	0	0	0	1	3097	1136	40	1		1	CDH11	16	64984728	Silent	SNP	G	TCGA-EL-A3MY-01A-11D-A21A-08		64984728	25370025	16	3480											
CACNA1A	773	broad.mit.edu	37	19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chr19:13565980C>T	ENST00000360228.5	-	2	339	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	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	114					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)	AGTGCGAGGACGATGCAATTC	0.453																																						uc010xne.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(340-342)Gtc>Atc		Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 2, mRNA.	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						193	193	193					19																	13565980		2042	4220	6262	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.chr19:13565980C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.340G>A	19.37:g.13565980C>T	ENSP00000353362:p.Val114Ile		Somatic				CACNA1A_uc010xnd.2_Missense_Mutation_p.V114I|CACNA1A_uc021ups.1_Missense_Mutation_p.V114I|CACNA1A_uc002mwy.3_Missense_Mutation_p.V114I|CACNA1A_uc010dze.2_Missense_Mutation_p.V114I|CACNA1A_uc021upt.1_Missense_Mutation_p.V114I	p.V114I	NM_023035	NP_075461	WXS	Illumina GAIIx	Phase_I	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		1	576	-			114					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.340G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112780	0.94339	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.71222	-0.55	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000009	D	0.84678	0.5525	M	0.80422	2.495	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.72982	0.972;0.979	D	0.86819	0.2003	10	0.72032	D	0.01	.	17.4452	0.87577	0.0:1.0:0.0:0.0	.	114;114	O00555;Q9NS88	CAC1A_HUMAN;.	I	114	ENSP00000353362:V114I	ENSP00000317661:V114I	V	-	1	0	CACNA1A	13426980	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	7.684000	0.84104	2.489000	0.83994	0.655000	0.94253	GTC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		64	185	0	0	0	1	0	64	185					T	13565980	C	T	13565980	3	4	195	1	0	0	0	0	1	0	0	0	2538	536	19	1	7478	1	CACNA1A	19	13565980	Missense_Mutation	SNP	C	TCGA-EL-A3MY-01A-11D-A21A-08		13565980	45563003	17	3481											
USP9X	8239	broad.mit.edu	37	X	41043681	41043682	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EL-A3MY-01A-11D-A21A-08	TCGA-EL-A3MY-11A-12D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c29edd-2ef1-46ef-93c6-796cf0332a2b	8b4e9b9d-c2d3-4b38-b7a1-3642e56555d3	g.chrX:41043681_41043682insA	ENST00000324545.8	+	23	3944_3945	c.3311_3312insA	c.(3310-3315)gcacctfs	p.P1105fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P1105fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1105					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCTGCTGGTGCACCTCTGGCTG	0.401																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3310-3312)gcafs		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41043681_41043682insA	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3312dupA	X.37:g.41043682_41043682dupA	ENSP00000316357:p.Pro1105fs		Somatic				USP9X_uc004dfc.3_Frame_Shift_Ins_p.A1104fs	p.A1104fs	NM_001039590	NP_001034679	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			22	3944_3945	+			1104					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.3311_3312insA	CCDS43930.1																																																																																				0.401	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		20	41						20	41	---	---	---	---	A	41043682	-	A	41043681	7	5	195	1	0	1	1	0	0	0	0	0	17087	710	25	0	3397	0	USP9X	23	41043681	Frame_Shift_Ins	INS	-	TCGA-EL-A3MY-01A-11D-A21A-08		41043681	114226879	18	3482											
KTI12	112970	broad.mit.edu	37	1	52499143	52499143	+	Silent	SNP	C	C	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:52499143C>A	ENST00000371614.1	-	1	345	c.291G>T	c.(289-291)gcG>gcT	p.A97A	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	97							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGGTGCGCGCCGCCCGTGCCA	0.672																																						uc001ctj.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(289-291)gcG>gcT		Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.							57	63	61					1																	52499143		2203	4300	6503	SO:0001819	synonymous_variant	112970						ATP binding	g.chr1:52499143C>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.291G>T	1.37:g.52499143C>A			Somatic				TXNDC12_uc001cti.3_Intron	p.A97A	NM_138417	NP_612426	WXS	Illumina GAIIx	Phase_I	Q96EK9	KTI12_HUMAN			0	330	-			97						Silent	SNP	ENST00000371614.1	37	c.291G>T	CCDS562.1																																																																																				0.672	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		4	157	0	0	0	1	0	4	157					A	52499143	C	A	52499143	2	1	196	1	0	0	0	0	0	0	0	1	8584	639	23	4		4	KTI12	1	52499143	Silent	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		52499143	196751478	1	3483											
PALMD	54873	broad.mit.edu	37	1	100154340	100154340	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:100154340C>T	ENST00000263174.4	+	7	899	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PALMD_ENST00000605497.1_Missense_Mutation_p.A175V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	175					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GCTTTATATGCCATGGAAATT	0.299																																						uc001dsg.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(523-525)gCc>gTc		Homo sapiens palmdelphin (PALMD), mRNA.							49	56	54					1																	100154340		2199	4299	6498	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100154340C>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.524C>T	1.37:g.100154340C>T	ENSP00000263174:p.Ala175Val		Somatic					p.A175V	NM_017734	NP_060204	WXS	Illumina GAIIx	Phase_I	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	6	967	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	175					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.524C>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122609	0.77436	.	.	ENSG00000099260	ENST00000263174	T	0.25749	1.78	5.59	5.59	0.84812	.	0.165900	0.52532	D	0.000069	T	0.40546	0.1121	M	0.70275	2.135	0.49299	D	0.999775	P;P	0.52692	0.955;0.944	P;P	0.57204	0.815;0.719	T	0.31223	-0.9951	10	0.87932	D	0	-6.0025	19.6045	0.95575	0.0:1.0:0.0:0.0	.	175;95	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	V	175	ENSP00000263174:A175V	ENSP00000263174:A175V	A	+	2	0	PALMD	99926928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.094000	0.64523	2.620000	0.88729	0.563000	0.77884	GCC		0.299	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		18	49	0	0	0	1	0	18	49					T	100154340	C	T	100154340	3	4	196	1	0	0	0	0	1	0	0	0	11411	739	26	2	550	2	PALMD	1	100154340	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	47655197	100154340	149096281	2	3484											
AKNAD1	254268	broad.mit.edu	37	1	109394761	109394761	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:109394761T>C	ENST00000370001.3	-	2	794	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	AKNAD1_ENST00000369995.3_Missense_Mutation_p.R176G|AKNAD1_ENST00000369994.1_Missense_Mutation_p.R176G|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	176						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACCATCCCTTTTCGGGTTG	0.423																																						uc001dwa.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(526-528)Agg>Ggg		Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.							62	64	64					1																	109394761		2202	4296	6498	SO:0001583	missense	254268							g.chr1:109394761T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.526A>G	1.37:g.109394761T>C	ENSP00000359018:p.Arg176Gly		Somatic				AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	p.R176G	NM_152763	NP_689976	WXS	Illumina GAIIx	Phase_I	Q5T1N1	AKND1_HUMAN			1	795	-			176					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.526A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595772	0.28445	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.08546	3.1;3.13;3.08	5.77	3.48	0.39840	.	1.154570	0.06009	N	0.649165	T	0.03053	0.0090	L	0.44542	1.39	0.09310	N	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.45264	-0.9273	10	0.36615	T	0.2	0.1509	9.7276	0.40342	0.0:0.141:0.0:0.859	.	176	Q5T1N1	AKND1_HUMAN	G	176	ENSP00000359018:R176G;ENSP00000359011:R176G;ENSP00000359012:R176G	ENSP00000359011:R176G	R	-	1	2	AKNAD1	109196284	0.040000	0.19996	0.001000	0.08648	0.017000	0.09413	1.687000	0.37680	0.468000	0.27243	0.533000	0.62120	AGG		0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		3	109	0	0	0	1	0	3	109					C	109394761	T	C	109394761	3	2	196	1	0	0	0	0	1	0	0	0	464	1608	56	3	2044	3	AKNAD1	1	109394761	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08	9240421	109394761	139855860	3	3485											
PIAS3	10401	broad.mit.edu	37	1	145578441	145578441	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:145578441A>G	ENST00000393045.2	+	2	494	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	PIAS3_ENST00000369298.1_Missense_Mutation_p.Y100C|PIAS3_ENST00000369299.3_Missense_Mutation_p.Y126C	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	135	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGCCCTTCTATGAAGTCTAT	0.582																																						uc001eoc.1																			0		p.R134W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(403-405)tAt>tGt		Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.							111	112	112					1																	145578441		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145578441A>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.404A>G	1.37:g.145578441A>G	ENSP00000376765:p.Tyr135Cys		Somatic				PIAS3_uc010oyy.1_Missense_Mutation_p.Y126C|PIAS3_uc001eod.1_5'Flank	p.Y135C	NM_006099	NP_006090	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			1	495	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		135			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.404A>G	CCDS920.2	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743814	0.69418	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	3.79	3.79	0.43588	PINIT domain (1);	0.159499	0.28895	N	0.013785	T	0.79616	0.4476	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82676	-0.0339	10	0.87932	D	0	-6.7353	10.545	0.45056	1.0:0.0:0.0:0.0	.	126;135	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	C	126;126;135;100	ENSP00000376766:Y126C;ENSP00000358305:Y126C;ENSP00000376765:Y135C;ENSP00000358304:Y100C	ENSP00000358304:Y100C	Y	+	2	0	PIAS3	144289798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.131000	0.94446	1.584000	0.49913	0.459000	0.35465	TAT		0.582	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		19	219	0	0	0	1	0	19	219					G	145578441	A	G	145578441	3	3	196	1	0	0	0	0	1	0	0	0	11877	449	16	3	410	3	PIAS3	1	145578441	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	36183680	145578441	103672180	4	3486											
SEMA6C	10500	broad.mit.edu	37	1	151105171	151105171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:151105171delG	ENST00000341697.3	-	19	4273	c.2582delC	c.(2581-2583)cctfs	p.P861fs	SEMA6C_ENST00000479820.1_Intron|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	861					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			GAGCAGGGCAGGGGGGGCCCG	0.781																																						uc001ewv.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(2677-2679)cctfs		Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.							2	2	2					1																	151105171		1554	3144	4698	SO:0001589	frameshift_variant	10500					integral to membrane	receptor activity	g.chr1:151105171delG	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2582delC	1.37:g.151105171delG	ENSP00000344148:p.Pro861fs		Somatic				SEMA6C_uc001ewu.3_Frame_Shift_Del_p.P861fs|SEMA6C_uc001eww.3_Frame_Shift_Del_p.P853fs	p.P893fs	NM_001178061	NP_001171532	WXS	Illumina GAIIx	Phase_I	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3014	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		861					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Frame_Shift_Del	DEL	ENST00000341697.3	37	c.2678delC	CCDS984.1																																																																																				0.781	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		2	4						2	4	---	---	---	---	-	151105171	G	-	151105171	7	5	196	1	0	1	0	1	0	0	0	0	14041	1000	35	0	214	0	SEMA6C	1	151105171	Frame_Shift_Del	DEL	G	TCGA-EL-A3MZ-01A-11D-A21A-08	5526730	151105171	98145450	5	3487											
ARHGEF2	9181	broad.mit.edu	37	1	155932417	155932417	+	Silent	SNP	G	G	A	rs370489054		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:155932417G>A	ENST00000361247.4	-	9	1167	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ARHGEF2_ENST00000462460.2_Silent_p.Y401Y|ARHGEF2_ENST00000368316.1_Silent_p.Y328Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000368315.4_Silent_p.Y357Y|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557																																					Melanoma(178;35 2768 6610 28839)	uc001fmu.2																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1198-1200)taC>taT		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	87	88	88		1068,1065,984	-7.2	0.8	1		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	356/987,355/986,328/959	155932417	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	g.chr1:155932417G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1068C>T	1.37:g.155932417G>A			Somatic				ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y	p.Y400Y	NM_004723	NP_004714	WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			12	1455	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		356			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.1200C>T	CCDS53376.1																																																																																				0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		4	128	0	0	0	1	0	4	128					A	155932417	G	A	155932417	2	1	196	1	0	0	0	0	0	0	0	1	903	1140	40	1		1	ARHGEF2	1	155932417	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	4827246	155932417	93318204	6	3488											
ATP1A4	480	broad.mit.edu	37	1	160124992	160124992	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:160124992C>T	ENST00000368081.4	+	3	836	c.365C>T	c.(364-366)gCc>gTc	p.A122V		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	122					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTTTGTGGCCTACAGCATC	0.517																																						uc001fve.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(364-366)gCc>gTc		Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.							63	58	60					1																	160124992		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124992C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.365C>T	1.37:g.160124992C>T	ENSP00000357060:p.Ala122Val		Somatic				ATP1A4_uc001fvf.4_Non-coding_Transcript	p.A122V	NM_144699	NP_653300	WXS	Illumina GAIIx	Phase_I	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	844	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		122					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.365C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735462	0.49045	.	.	ENSG00000132681	ENST00000368081	D	0.93906	-3.31	4.25	4.25	0.50352	ATPase, P-type cation-transporter, N-terminal (1);	0.061528	0.64402	D	0.000006	D	0.96074	0.8721	M	0.90019	3.08	0.80722	D	1	D	0.71674	0.998	P	0.59546	0.859	D	0.96709	0.9524	10	0.87932	D	0	.	14.1868	0.65609	0.0:1.0:0.0:0.0	.	122	Q13733	AT1A4_HUMAN	V	122	ENSP00000357060:A122V	ENSP00000357060:A122V	A	+	2	0	ATP1A4	158391616	1.000000	0.71417	0.992000	0.48379	0.173000	0.22820	7.596000	0.82721	2.193000	0.70182	0.609000	0.83330	GCC		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		3	53	0	0	0	1	0	3	53					T	160124992	C	T	160124992	3	4	196	1	0	0	0	0	1	0	0	0	1131	739	26	2	375	2	ATP1A4	1	160124992	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	4192575	160124992	89125629	7	3489											
PPP1R15B	84919	broad.mit.edu	37	1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:204380470A>G	ENST00000367188.4	-	1	449	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	24					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627																																						uc001hav.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(70-72)Ttt>Ctt		Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.							41	52	48					1																	204380470		2201	4299	6500	SO:0001583	missense	84919				regulation of translation			g.chr1:204380470A>G	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.70T>C	1.37:g.204380470A>G	ENSP00000356156:p.Phe24Leu		Somatic					p.F24L	NM_032833	NP_116222	WXS	Illumina GAIIx	Phase_I	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		0	475	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		24					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.70T>C	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343788	0.24339	.	.	ENSG00000158615	ENST00000367188	T	0.24151	1.87	4.77	0.894	0.19242	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.379360	0.19194	N	0.120358	T	0.14917	0.0360	L	0.29908	0.895	0.23568	N	0.997399	B	0.06786	0.001	B	0.06405	0.002	T	0.18587	-1.0332	10	0.33940	T	0.23	.	5.4501	0.16560	0.5687:0.3383:0.093:0.0	.	24	Q5SWA1	PR15B_HUMAN	L	24	ENSP00000356156:F24L	ENSP00000356156:F24L	F	-	1	0	PPP1R15B	202647093	0.000000	0.05858	0.048000	0.18961	0.007000	0.05969	-0.374000	0.07484	-0.059000	0.13154	-0.274000	0.10170	TTT		0.627	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		3	134	0	0	0	1	0	3	134					G	204380470	A	G	204380470	3	3	196	1	0	0	0	0	1	0	0	0	12364	72	3	3	2079	3	PPP1R15B	1	204380470	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	44255478	204380470	44870151	8	3490											
OBSCN	84033	broad.mit.edu	37	1	228461984	228461984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:228461984G>A	ENST00000422127.1	+	19	5566	c.5522G>A	c.(5521-5523)tGg>tAg	p.W1841*	OBSCN_ENST00000359599.6_Nonsense_Mutation_p.W688*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.W2216*|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W1841*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1841	Ig-like 18.				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)				GAGGTGGTGTGGCGCTGCGGC	0.692																																						uc009xez.1																			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.(5521-5523)tGg>tAg		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							54	65	61					1																	228461984		2190	4277	6467	SO:0001587	stop_gained	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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228461984G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5522G>A	1.37:g.228461984G>A	ENSP00000409493:p.Trp1841*		Somatic				OBSCN_uc001hsn.3_Nonsense_Mutation_p.W1841*	p.W1841*	NM_001098623	NP_001092093	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			18	5566	+		Prostate(94;0.0405)	1841			Ig-like 18.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.5522G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	37	6.257981	0.97417	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	.	.	.	5.16	5.16	0.70880	.	0.082968	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3684	0.60698	0.0783:0.0:0.9217:0.0	.	.	.	.	X	1841;1841;688	.	ENSP00000284548:W1841X	W	+	2	0	OBSCN	226528607	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.326000	0.79133	2.582000	0.87167	0.555000	0.69702	TGG		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	169	0	0	0	1	0	4	169					A	228461984	G	A	228461984	4	1	196	1	0	0	0	0	0	1	0	0	10812	1357	47	2	5592	2	OBSCN	1	228461984	Nonsense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	24081514	228461984	20788637	9	3491											
AFF3	3899	broad.mit.edu	37	2	100623626	100623626	+	Silent	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr2:100623626G>A	ENST00000409236.2	-	4	583	c.471C>T	c.(469-471)gaC>gaT	p.D157D	AFF3_ENST00000317233.4_Silent_p.D157D|AFF3_ENST00000409579.1_Silent_p.D182D|AFF3_ENST00000356421.2_Silent_p.D182D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	157					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)			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						TCTGTTGGCCGTCAGAGGGTG	0.498																																						uc002taf.3																			0				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.(544-546)gaC>gaT		Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.							75	82	80					2																	100623626		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623626G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.471C>T	2.37:g.100623626G>A			Somatic				AFF3_uc002tag.3_Silent_p.D157D|AFF3_uc010fiq.1_Silent_p.D157D|AFF3_uc010yvr.1_Silent_p.D311D|AFF3_uc002tah.1_Silent_p.D182D|AFF3_uc010fir.1_Silent_p.D234D	p.D182D	NM_001025108	NP_001020279	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			4	690	-			157					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.546C>T	CCDS42723.1																																																																																				0.498	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		38	69	0	0	0	1	0	38	69					A	100623626	G	A	100623626	2	1	196	1	0	0	0	0	0	0	0	1	358	1136	40	1		1	AFF3	2	100623626	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		100623626	142575747	10	3492											
SLC22A14	9389	broad.mit.edu	37	3	38357110	38357110	+	Silent	SNP	G	G	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38357110G>T	ENST00000273173.4	+	8	1531	c.1440G>T	c.(1438-1440)acG>acT	p.T480T	SLC22A14_ENST00000448498.1_Silent_p.T480T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	480					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)		AATCCATGACGATCTTGGTGC	0.592																																						uc010hhc.1																			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.(1438-1440)acG>acT		Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.							168	139	148					3																	38357110		2203	4300	6503	SO:0001819	synonymous_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38357110G>T	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1440G>T	3.37:g.38357110G>T			Somatic				SLC22A14_uc003cib.2_Silent_p.T480T|SLC22A14_uc011ayo.1_Non-coding_Transcript	p.T480T	NM_004803	NP_004794	WXS	Illumina GAIIx	Phase_I	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	8	1482	+			480					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	ENST00000273173.4	37	c.1440G>T	CCDS2677.1																																																																																				0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		74	133	0	0	0	1	0	74	133					T	38357110	G	T	38357110	2	4	196	1	0	0	0	0	0	0	0	1	14445	1045	37	4		4	SLC22A14	3	38357110	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		38357110	159665320	11	3493											
ACVR2B	93	broad.mit.edu	37	3	38523689	38523689	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38523689G>C	ENST00000352511.4	+	9	1547	c.1075G>C	c.(1075-1077)Gta>Cta	p.V359L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCTCACATAGGTAGGCACGAG	0.562																																						uc003cif.3																			0				lung(1)	1						c.e9-1		Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.							89	72	77					3																	38523689		2203	4300	6503	SO:0001630	splice_region_variant	93				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38523689G>C	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1075-1G>C	3.37:g.38523689G>C			Somatic				ACVR2B_uc003cig.3_Splice_Site_p.V150_splice	p.V359_splice	NM_001106	NP_001097	WXS	Illumina GAIIx	Phase_I	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	9	1099	+	Medulloblastoma(35;0.163)		359			Protein kinase.		Q4VAV0	Splice_Site	SNP	ENST00000352511.4	37	c.1075_splice	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867236	0.72065	.	.	ENSG00000114739	ENST00000352511	T	0.69561	-0.41	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.66560	2.04	0.80722	D	1	P	0.46277	0.875	B	0.44133	0.442	T	0.70854	-0.4759	9	.	.	.	.	19.5661	0.95393	0.0:0.0:1.0:0.0	.	359	Q13705	AVR2B_HUMAN	L	359	ENSP00000340361:V359L	.	V	+	1	0	ACVR2B	38498693	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	9.752000	0.98900	2.617000	0.88574	0.563000	0.77884	GTA		0.562	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	Missense_Mutation	26	70	0	0	0	1	0	26	70					C	38523689	G	C	38523689	5	2	196	1	0	0	0	0	0	0	1	0	224	1275	44	4	1109	4	ACVR2B	3	38523689	Splice_Site	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	166579	38523689	159498741	12	3494											
UQCRC1	7384	broad.mit.edu	37	3	48637950	48637950	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:48637950T>A	ENST00000203407.5	-	10	1594	c.1178A>T	c.(1177-1179)aAc>aTc	p.N393I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	393					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTGAGGATGTTTTTGCCCCG	0.567																																					NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1177-1179)aAc>aTc		Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	Atovaquone(DB01117)						95	84	88					3																	48637950		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48637950T>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1178A>T	3.37:g.48637950T>A	ENSP00000203407:p.Asn393Ile		Somatic					p.N393I	NM_003365	NP_003356	WXS	Illumina GAIIx	Phase_I	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	9	1223	-			393					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1178A>T	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.990791	0.93106	.	.	ENSG00000010256	ENST00000203407	T	0.09817	2.94	5.81	5.81	0.92471	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.08576	-1.0715	10	0.59425	D	0.04	-41.7776	16.1641	0.81743	0.0:0.0:0.0:1.0	.	278;393	B4DUL5;P31930	.;QCR1_HUMAN	I	393	ENSP00000203407:N393I	ENSP00000203407:N393I	N	-	2	0	UQCRC1	48612954	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.181000	0.71988	2.225000	0.72522	0.379000	0.24179	AAC		0.567	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		33	57	0	0	0	1	0	33	57					A	48637950	T	A	48637950	3	1	196	1	0	0	0	0	1	0	0	0	17016	1725	60	5	280	5	UQCRC1	3	48637950	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08	10114261	48637950	149384480	13	3495											
KPNA1	3836	broad.mit.edu	37	3	122168506	122168506	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:122168506G>A	ENST00000344337.6	-	9	1008	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	278	Binding to RAG1.				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)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AGATATGAGAGGGCCCAGCAG	0.433																																					Melanoma(12;340 801 11196 19797)	uc003efe.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(832-834)Ctc>Ttc		Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.							79	75	76					3																	122168506		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122168506G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.832C>T	3.37:g.122168506G>A	ENSP00000343701:p.Leu278Phe		Somatic				KPNA1_uc003efb.1_Missense_Mutation_p.L77F|KPNA1_uc003efc.1_Missense_Mutation_p.L77F|KPNA1_uc011bjr.1_Missense_Mutation_p.L77F|KPNA1_uc010hrh.2_Missense_Mutation_p.L77F	p.L278F	NM_002264	NP_002255	WXS	Illumina GAIIx	Phase_I	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	8	1020	-			278			Binding to RAG1.		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.832C>T	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221700	0.79464	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	D;D	0.85629	-2.01;-2.01	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	M	0.74389	2.26	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.91102	0.4915	10	0.72032	D	0.01	-8.0799	10.9074	0.47088	0.0936:0.0:0.9064:0.0	.	278	P52294	IMA1_HUMAN	F	278	ENSP00000343701:L278F;ENSP00000419890:L278F	ENSP00000343701:L278F	L	-	1	0	KPNA1	123651196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.325000	0.52030	2.644000	0.89710	0.563000	0.77884	CTC		0.433	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		3	94	0	0	0	1	0	3	94					A	122168506	G	A	122168506	3	1	196	1	0	0	0	0	1	0	0	0	8429	1000	35	2	808	2	KPNA1	3	122168506	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	73530556	122168506	75853924	14	3496											
YTHDC1	91746	broad.mit.edu	37	4	69197877	69197877	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr4:69197877T>C	ENST00000344157.4	-	7	1401	c.1066A>G	c.(1066-1068)Aga>Gga	p.R356G	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R356G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R338G	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	356	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGGAAAAATCTTGCATCTTGA	0.343																																						uc003hdx.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1066-1068)Aga>Gga		Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.							117	109	112					4																	69197877		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69197877T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1066A>G	4.37:g.69197877T>C	ENSP00000339245:p.Arg356Gly		Somatic				YTHDC1_uc003hdy.3_Missense_Mutation_p.R338G	p.R356G	NM_001031732	NP_001026902	WXS	Illumina GAIIx	Phase_I	Q96MU7	YTDC1_HUMAN			6	1419	-			356			YTH.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1066A>G	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220858	0.39201	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.37584	1.19;1.19	5.37	5.37	0.77165	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	0.983;1.0	D;D	0.83275	0.981;0.996	T	0.77135	-0.2699	10	0.87932	D	0	.	12.7796	0.57469	0.0:0.0:0.1363:0.8637	.	338;356	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	G	356;338	ENSP00000339245:R356G;ENSP00000347888:R338G	ENSP00000339245:R356G	R	-	1	2	YTHDC1	68880472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.576000	0.53878	2.155000	0.67459	0.528000	0.53228	AGA		0.343	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		21	73	0	0	0	1	0	21	73					C	69197877	T	C	69197877	3	2	196	1	0	0	0	0	1	0	0	0	17493	1617	56	3	1161	3	YTHDC1	4	69197877	Missense_Mutation	SNP	T	TCGA-EL-A3MZ-01A-11D-A21A-08		69197877	121956399	15	3497											
TERT	7015	broad.mit.edu	37	5	1293592	1293592	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr5:1293592C>T	ENST00000310581.5	-	2	1466	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TERT_ENST00000522877.1_5'Flank|TERT_ENST00000508104.2_Missense_Mutation_p.R470H|TERT_ENST00000296820.5_Missense_Mutation_p.R470H|TERT_ENST00000334602.6_Missense_Mutation_p.R470H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	470	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CACCAGCCGGCGCAGGCAGGC	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1408-1410)cGc>cAc		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							14	16	15					5																	1293592		2173	4287	6460	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1293592C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1409G>A	5.37:g.1293592C>T	ENSP00000309572:p.Arg470His		Somatic				TERT_uc003jcc.1_Missense_Mutation_p.R470H|TERT_uc003jca.1_Missense_Mutation_p.R470H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	p.R470H	NM_198253	NP_937983	WXS	Illumina GAIIx	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	1467	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		470			QFP motif.|RNA-interacting domain 2.|Required for oligomerization.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1409G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	3.136	-0.177311	0.06380	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.46	-0.392	0.12442	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	1.488820	0.03441	N	0.209276	T	0.79997	0.4543	L	0.31926	0.97	0.09310	N	1	B;B;B	0.14438	0.002;0.01;0.003	B;B;B	0.12156	0.001;0.007;0.001	T	0.62737	-0.6791	10	0.45353	T	0.12	-11.5511	4.3911	0.11341	0.1758:0.1758:0.0:0.6484	.	470;470;470	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	H	470	ENSP00000309572:R470H;ENSP00000296820:R470H;ENSP00000334346:R470H;ENSP00000426042:R470H	ENSP00000296820:R470H	R	-	2	0	TERT	1346592	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	0.010000	0.13242	-0.021000	0.14009	-0.321000	0.08615	CGC		0.687	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	7	0	0	0	1	0	5	7					T	1293592	C	T	1293592	3	4	196	1	0	0	0	0	1	0	0	0	15761	768	27	1	2049	1	TERT	5	1293592	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		1293592	179621668	16	3498											
IGF2R	3482	broad.mit.edu	37	6	160464296	160464296	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr6:160464296G>A	ENST00000356956.1	+	12	1745	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	533					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGGTGTCCCGAGGACGCGGC	0.493																																						uc003qta.3																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1597-1599)Gag>Aag		Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.							129	121	124					6																	160464296		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160464296G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1597G>A	6.37:g.160464296G>A	ENSP00000349437:p.Glu533Lys		Somatic					p.E533K	NM_000876	NP_000867	WXS	Illumina GAIIx	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	11	1745	+		Breast(66;0.000777)|Ovarian(120;0.0305)	533					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1597G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435154	0.43224	.	.	ENSG00000197081	ENST00000356956	T	0.03635	3.86	5.52	2.79	0.32731	Mannose-6-phosphate receptor, binding (1);	0.341501	0.33199	N	0.005179	T	0.02012	0.0063	M	0.84948	2.725	0.09310	N	0.999996	B	0.23377	0.084	B	0.17979	0.02	T	0.44997	-0.9291	10	0.25751	T	0.34	-16.9673	7.2416	0.26100	0.1937:0.1256:0.6806:0.0	.	533	P11717	MPRI_HUMAN	K	533	ENSP00000349437:E533K	ENSP00000349437:E533K	E	+	1	0	IGF2R	160384286	0.981000	0.34729	0.005000	0.12908	0.012000	0.07955	3.982000	0.56909	0.302000	0.22762	0.655000	0.94253	GAG		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		60	133	0	0	0	1	0	60	133					A	160464296	G	A	160464296	3	1	196	1	0	0	0	0	1	0	0	0	7576	1059	37	1	1643	1	IGF2R	6	160464296	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		160464296	10650771	17	3499											
PTCD1	26024	broad.mit.edu	37	7	99032844	99032844	+	Nonsense_Mutation	SNP	G	G	A	rs138103080		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:99032844G>A	ENST00000292478.4	-	2	272	c.22C>T	c.(22-24)Cga>Tga	p.R8*	PTCD1_ENST00000555673.1_Nonsense_Mutation_p.R57*|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000485746.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.R57*	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	8					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)			GCGAACAGTCGAGCGAGTCTC	0.567																																						uc011kiw.2																			0											c.(169-171)Cga>Tga		Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.		G	stop/ARG,stop/ARG	0,4406		0,0,2203	54	60	58		169,22	3.9	0.0	7	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	PTCD1,ATP5J2-PTCD1	NM_001198879.1,NM_015545.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	57/750,8/701	99032844	1,13003	2203	4299	6502	SO:0001587	stop_gained	100526740							g.chr7:99032844G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.22C>T	7.37:g.99032844G>A	ENSP00000292478:p.Arg8*		Somatic				ATP5J2-PTCD1_uc003uqh.3_Nonsense_Mutation_p.R8*	p.R57*	NM_001198879	NP_001185808	WXS	Illumina GAIIx	Phase_I	B4DJ38	B4DJ38_HUMAN			2	229	-			57					Q3ZB78|Q66K60|Q9UDV2	Nonsense_Mutation	SNP	ENST00000292478.4	37	c.169C>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323073	0.24080	0.0	1.16E-4	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	.	.	.	5.69	3.88	0.44766	.	0.921067	0.09177	N	0.838055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-14.8697	11.8636	0.52480	0.0:0.1311:0.7324:0.1365	.	.	.	.	X	8;57;8;8;8;8;57	.	ENSP00000400168:R57X	R	-	1	2	ATP5J2-PTCD1;PTCD1	98870780	0.000000	0.05858	0.005000	0.12908	0.000000	0.00434	0.302000	0.19192	0.361000	0.24292	-2.689000	0.00140	CGA		0.567	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		19	114	0	0	0	1	0	19	114					A	99032844	G	A	99032844	4	1	196	1	0	0	0	0	0	1	0	0	12727	1066	37	1	2108	1	PTCD1	7	99032844	Nonsense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		99032844	60105819	18	3500											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	66	0	0	0	1	0	39	66					T	140453136	A	T	140453136	3	4	196	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	41420292	140453136	18685527	19	3501											
C7orf33	202865	broad.mit.edu	37	7	148288066	148288066	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:148288066C>A	ENST00000307003.2	+	1	410	c.49C>A	c.(49-51)Ctt>Att	p.L17I		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	17										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCCCTGGAGACTTCCAGGCCC	0.567																																						uc003wew.3																			0				central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14						c.(49-51)Ctt>Att		Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.							61	60	61					7																	148288066		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148288066C>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.49C>A	7.37:g.148288066C>A	ENSP00000304071:p.Leu17Ile		Somatic					p.L17I	NM_145304	NP_660347	WXS	Illumina GAIIx	Phase_I	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		0	410	+	Melanoma(164;0.15)		17						Missense_Mutation	SNP	ENST00000307003.2	37	c.49C>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403520	0.25291	.	.	ENSG00000170279	ENST00000307003	.	.	.	3.44	-3.72	0.04411	.	.	.	.	.	T	0.15696	0.0378	N	0.14661	0.345	0.09310	N	1	P	0.46512	0.879	B	0.38755	0.281	T	0.24512	-1.0158	8	0.87932	D	0	.	10.182	0.42975	0.0:0.6825:0.0:0.3175	.	17	Q8WU49	CG033_HUMAN	I	17	.	ENSP00000304071:L17I	L	+	1	0	C7orf33	147918999	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.383000	0.07398	-0.562000	0.06086	0.467000	0.42956	CTT		0.567	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		24	65	0	0	0	1	0	24	65					A	148288066	C	A	148288066	3	1	196	1	0	0	0	0	1	0	0	0	2388	565	20	4	51	4	C7orf33	7	148288066	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	7834930	148288066	10850597	20	3502											
RBM12B	389677	broad.mit.edu	37	8	94747584	94747584	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr8:94747584G>A	ENST00000399300.2	-	3	1268	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.P352L|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	352	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AATATGAACTGGACGATATTG	0.363																																						uc003yfz.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1054-1056)cCa>cTa		Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.							94	91	92					8																	94747584		1849	4091	5940	SO:0001583	missense	389677						RNA binding|nucleotide binding	g.chr8:94747584G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1055C>T	8.37:g.94747584G>A	ENSP00000382239:p.Pro352Leu		Somatic				RBM12B_uc022aye.1_Missense_Mutation_p.P352L	p.P352L	NM_203390	NP_976324	WXS	Illumina GAIIx	Phase_I	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		2	1248	-	Breast(36;4.14e-07)		352			RRM 2.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1055C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795403	0.16327	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.08370	3.1;3.1	5.26	4.33	0.51752	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.183144	0.39020	N	0.001486	T	0.13072	0.0317	L	0.40543	1.245	0.37015	D	0.895919	D	0.57257	0.979	P	0.54759	0.76	T	0.16041	-1.0416	10	0.14656	T	0.56	-14.8186	13.833	0.63393	0.0:0.0:0.7058:0.2942	.	352	Q8IXT5	RB12B_HUMAN	L	352	ENSP00000382239:P352L;ENSP00000427729:P352L	ENSP00000382239:P352L	P	-	2	0	RBM12B	94816760	0.941000	0.31946	1.000000	0.80357	0.975000	0.68041	1.579000	0.36536	2.614000	0.88457	0.591000	0.81541	CCA		0.363	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		18	42	0	0	0	1	0	18	42					A	94747584	G	A	94747584	3	1	196	1	0	0	0	0	1	0	0	0	13114	1348	47	2	1954	2	RBM12B	8	94747584	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		94747584	51616438	21	3503											
PHOX2A	401	broad.mit.edu	37	11	71950915	71950915	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr11:71950915C>T	ENST00000298231.5	-	3	904	c.733G>A	c.(733-735)Gcg>Acg	p.A245T	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	245	Poly-Gly.				dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						GCCGCTCCCGCGCCAGGCCCG	0.771																																						uc001osh.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						c.(733-735)Gcg>Acg		Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.							2	2	2					11																	71950915		1018	2484	3502	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71950915C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"Homeoboxes / PRD class"	691	protein-coding gene	gene with protein product		602753	"aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive", "paired-like (aristaless) homeobox 2a"	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.733G>A	11.37:g.71950915C>T	ENSP00000298231:p.Ala245Thr		Somatic					p.A245T	NM_005169	NP_005160	WXS	Illumina GAIIx	Phase_I	O14813	PHX2A_HUMAN			2	905	-			245			Poly-Gly.		A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.733G>A	CCDS8214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.172|9.172	1.021274|1.021274	0.19433|0.19433	.|.	.|.	ENSG00000165462|ENSG00000165462	ENST00000298231|ENST00000546310	D|.	0.89810|.	-2.57|.	4.93|4.93	0.664|0.664	0.17890|0.17890	.|.	0.327791|.	0.22040|.	N|.	0.065465|.	T|T	0.09598|0.09598	0.0236|0.0236	N|N	0.03608|0.03608	-0.345|-0.345	0.23727|0.23727	N|N	0.997004|0.997004	B|.	0.21147|.	0.052|.	B|.	0.08055|.	0.003|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.16420|.	T|.	0.52|.	.|.	1.3349|1.3349	0.02142|0.02142	0.1383:0.3512:0.2698:0.2407|0.1383:0.3512:0.2698:0.2407	.|.	245|.	O14813|.	PHX2A_HUMAN|.	T|H	245|45	ENSP00000298231:A245T|.	ENSP00000298231:A245T|.	A|R	-|-	1|2	0|0	PHOX2A|PHOX2A	71628563|71628563	0.798000|0.798000	0.28890|0.28890	0.913000|0.913000	0.36048|0.36048	0.107000|0.107000	0.19398|0.19398	-0.188000|-0.188000	0.09642|0.09642	-0.149000|-0.149000	0.11215|0.11215	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.771	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		3	8	0	0	0	1	0	3	8					T	71950915	C	T	71950915	3	4	196	1	0	0	0	0	1	0	0	0	11858	768	27	1	125	1	PHOX2A	11	71950915	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		71950915	63055601	22	3504											
RERGL	79785	broad.mit.edu	37	12	18237559	18237559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:18237559C>T	ENST00000229002.2	-	5	433	c.227G>A	c.(226-228)tGg>tAg	p.W76*	RERGL_ENST00000536890.1_Intron|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Nonsense_Mutation_p.W75*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	76	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						CCCATCTGCCCAGTGAAGCTC	0.398																																						uc001rdq.3																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(226-228)tGg>tAg		Homo sapiens RERG/RAS-like (RERGL), mRNA.							135	129	131					12																	18237559		2203	4300	6503	SO:0001587	stop_gained	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237559C>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.227G>A	12.37:g.18237559C>T	ENSP00000229002:p.Trp76*		Somatic					p.W76*	NM_024730	NP_079006	WXS	Illumina GAIIx	Phase_I	Q9H628	RERGL_HUMAN			4	421	-			76			Small GTPase-like.			Nonsense_Mutation	SNP	ENST00000229002.2	37	c.227G>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	C	37	6.332038	0.97480	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	.	.	.	4.79	4.79	0.61399	.	0.057961	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	16.8961	0.86101	0.0:1.0:0.0:0.0	.	.	.	.	X	76;75	.	ENSP00000229002:W76X	W	-	2	0	RERGL	18128826	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.912000	0.75753	2.599000	0.87857	0.467000	0.42956	TGG		0.398	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		55	93	0	0	0	1	0	55	93					T	18237559	C	T	18237559	4	4	196	1	0	0	0	0	0	1	0	0	13233	595	21	2	398	2	RERGL	12	18237559	Nonsense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		18237559	115614336	23	3505											
AQP5	362	broad.mit.edu	37	12	50357924	50357924	+	Missense_Mutation	SNP	C	C	T	rs117761535		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:50357924C>T	ENST00000293599.6	+	3	726	c.578C>T	c.(577-579)gCg>gTg	p.A193V	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	193					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TTTGGCCCTGCGGTGGTCATG	0.612													C|||	1	0.000199681	0	0	5008	,	,		18160	0.001		0	False		,,,				2504	0					uc001rvo.2																			0				large_intestine(1)|lung(3)	4						c.(577-579)gCg>gTg		Homo sapiens aquaporin 5 (AQP5), mRNA.		C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	123	102	109		578	5.1	0.6	12	dbSNP_132	109	9,8591	7.1+/-27.0	0,9,4291	yes	missense	AQP5	NM_001651.2	64	0,12,6491	TT,TC,CC		0.1047,0.0681,0.0923	benign	193/266	50357924	12,12994	2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50357924C>T	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.578C>T	12.37:g.50357924C>T	ENSP00000293599:p.Ala193Val		Somatic					p.A193V	NM_001651	NP_001642	WXS	Illumina GAIIx	Phase_I	P55064	AQP5_HUMAN			2	1100	+			193					Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.578C>T	CCDS8793.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.55	3.418038	0.62622	6.81E-4	0.001047	ENSG00000161798	ENST00000293599	D	0.94232	-3.38	5.07	5.07	0.68467	Aquaporin-like (2);	0.336630	0.24289	N	0.039838	D	0.97548	0.9197	H	0.97291	3.975	0.49798	D	0.99982	D	0.76494	0.999	P	0.58577	0.841	D	0.98776	1.0730	10	0.66056	D	0.02	-0.1821	16.3242	0.82965	0.0:1.0:0.0:0.0	.	193	P55064	AQP5_HUMAN	V	193	ENSP00000293599:A193V	ENSP00000293599:A193V	A	+	2	0	AQP5	48644191	1.000000	0.71417	0.626000	0.29213	0.305000	0.27757	6.635000	0.74295	2.518000	0.84900	0.655000	0.94253	GCG		0.612	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		44	91	0	0	0	1	0	44	91					T	50357924	C	T	50357924	3	4	196	1	0	0	0	0	1	0	0	0	829	768	27	1	588	1	AQP5	12	50357924	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	32120365	50357924	83493971	24	3506											
SBNO1	55206	broad.mit.edu	37	12	123805012	123805012	+	Silent	SNP	G	G	A	rs567091125		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:123805012G>A	ENST00000602398.1	-	19	2761	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	SBNO1_ENST00000267176.4_Silent_p.I877I|SBNO1_ENST00000420886.2_Silent_p.I878I|SBNO1_ENST00000602750.1_Silent_p.I877I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	878					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAAGTTCATCGATAAGTTCAT	0.438													G|||	1	0.000199681	0	0	5008	,	,		19543	0		0	False		,,,				2504	0.001					uc010tap.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(2632-2634)atC>atT		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							119	118	118					12																	123805012		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123805012G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2634C>T	12.37:g.123805012G>A			Somatic				SBNO1_uc010tao.2_Silent_p.I877I|SBNO1_uc010taq.2_Intron	p.I878I	NM_001167856	NP_001161328	WXS	Illumina GAIIx	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	17	2634	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		878					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.2634C>T	CCDS53844.1																																																																																				0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		34	98	0	0	0	1	0	34	98					A	123805012	G	A	123805012	2	1	196	1	0	0	0	0	0	0	0	1	13862	1048	37	1		1	SBNO1	12	123805012	Silent	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	73447088	123805012	10046883	25	3507											
THSD1	55901	broad.mit.edu	37	13	52971586	52971586	+	Missense_Mutation	SNP	C	C	T	rs201109452		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr13:52971586C>T	ENST00000258613.4	-	3	980	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.V268I	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	268					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)		p.V268I(1)		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)		ACTCCTTGGACGAAGGTGCAT	0.562																																						uc001vgo.3																			1	Substitution - Missense(1)	p.V268I(2)	endometrium(1)	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.(802-804)Gtc>Atc		Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	74	72	72		802,802	4.9	0.0	13		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	THSD1	NM_018676.3,NM_199263.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	268/853,268/800	52971586	1,13005	2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971586C>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.802G>A	13.37:g.52971586C>T	ENSP00000258613:p.Val268Ile		Somatic				THSD1_uc001vgp.3_Missense_Mutation_p.V268I|THSD1_uc010tgz.2_Intron	p.V268I	NM_018676	NP_061146	WXS	Illumina GAIIx	Phase_I	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	2	1347	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	268					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.802G>A	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	C	2.629	-0.286888	0.05605	0.0	1.16E-4	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.16196	2.36;2.55	5.79	4.95	0.65309	.	0.299209	0.32736	N	0.005705	T	0.13500	0.0327	L	0.45137	1.4	0.25006	N	0.99143	P;B	0.39883	0.693;0.05	B;B	0.35182	0.197;0.004	T	0.15321	-1.0441	10	0.24483	T	0.36	-17.2921	10.4801	0.44689	0.0:0.8368:0.0:0.1632	.	268;268	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	I	268	ENSP00000340650:V268I;ENSP00000258613:V268I	ENSP00000258613:V268I	V	-	1	0	THSD1	51869587	0.942000	0.31987	0.018000	0.16275	0.007000	0.05969	2.020000	0.41010	1.455000	0.47813	-0.254000	0.11334	GTC		0.562	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			30	78	0	0	0	1	0	30	78					T	52971586	C	T	52971586	3	4	196	1	0	0	0	0	1	0	0	0	15874	536	19	1	1768	1	THSD1	13	52971586	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		52971586	62198292	26	3508											
BDKRB2	624	broad.mit.edu	37	14	96706966	96706966	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr14:96706966G>A	ENST00000306005.3	+	3	497	c.301G>A	c.(301-303)Gca>Aca	p.A101T	BDKRB2_ENST00000554311.1_Missense_Mutation_p.A101T|BDKRB2_ENST00000542454.2_Missense_Mutation_p.A74T|BDKRB2_ENST00000539359.1_Missense_Mutation_p.A74T|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	101					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GAACCTGGCCGCAGCAGACCT	0.607																																						uc010avm.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(301-303)Gca>Aca		Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.							104	105	104					14																	96706966		2203	4300	6503	SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706966G>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.301G>A	14.37:g.96706966G>A	ENSP00000307713:p.Ala101Thr		Somatic				BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.A74T|BDKRB2_uc001yfg.2_Missense_Mutation_p.A101T	p.A101T	NM_000623	NP_000614	WXS	Illumina GAIIx	Phase_I	P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	2	497	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	101						Missense_Mutation	SNP	ENST00000306005.3	37	c.301G>A	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726982	0.48833	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.68	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.460243	0.23250	N	0.050247	T	0.46795	0.1411	L	0.52266	1.64	0.09310	N	1	D	0.67145	0.996	P	0.60236	0.871	T	0.39014	-0.9634	10	0.87932	D	0	-1.5151	11.2972	0.49284	0.0:0.352:0.5116:0.1364	.	101	P30411	BKRB2_HUMAN	T	74;101;101;74	ENSP00000439459:A74T;ENSP00000450482:A101T;ENSP00000307713:A101T;ENSP00000438376:A74T	ENSP00000307713:A101T	A	+	1	0	BDKRB2	95776719	0.000000	0.05858	0.004000	0.12327	0.620000	0.37586	0.392000	0.20801	0.128000	0.18479	-0.305000	0.09177	GCA		0.607	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			4	241	0	0	0	1	0	4	241					A	96706966	G	A	96706966	3	1	196	1	0	0	0	0	1	0	0	0	1393	1087	38	1	307	1	BDKRB2	14	96706966	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		96706966	10642574	27	3509											
SEMA7A	8482	broad.mit.edu	37	15	74703138	74703138	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr15:74703138G>A	ENST00000261918.4	-	14	2376	c.1828C>T	c.(1828-1830)Cac>Tac	p.H610Y	SEMA7A_ENST00000543145.2_Missense_Mutation_p.H596Y|SEMA7A_ENST00000542748.1_Missense_Mutation_p.H445Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	610	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAGAAGTAGTGGCCGTACTGC	0.637																																						uc002axv.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1828-1830)Cac>Tac		Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.							78	77	77					15																	74703138		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703138G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1828C>T	15.37:g.74703138G>A	ENSP00000261918:p.His610Tyr		Somatic				SEMA7A_uc010ulk.2_Missense_Mutation_p.H445Y|SEMA7A_uc010ull.2_Missense_Mutation_p.H596Y	p.H610Y	NM_003612	NP_001139502	WXS	Illumina GAIIx	Phase_I	O75326	SEM7A_HUMAN			13	1868	-			610			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1828C>T	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939649	0.52972	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.12465	2.68;2.68;2.68	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.675957	0.14345	N	0.325483	T	0.12774	0.0310	L	0.47716	1.5	0.31959	N	0.608595	P;P	0.49862	0.912;0.929	B;P	0.44597	0.325;0.454	T	0.00615	-1.1643	10	0.02654	T	1	-33.8475	11.2779	0.49178	0.0:0.0:0.818:0.182	.	596;610	F5H1S0;O75326	.;SEM7A_HUMAN	Y	610;596;445	ENSP00000261918:H610Y;ENSP00000438966:H596Y;ENSP00000441493:H445Y	ENSP00000261918:H610Y	H	-	1	0	SEMA7A	72490191	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.945000	0.40273	2.094000	0.63399	0.555000	0.69702	CAC		0.637	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		27	44	0	0	0	1	0	27	44					A	74703138	G	A	74703138	3	1	196	1	0	0	0	0	1	0	0	0	14043	1348	47	2	176	2	SEMA7A	15	74703138	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08		74703138	27828254	28	3510											
NLRC3	197358	broad.mit.edu	37	16	3614041	3614041	+	RNA	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:3614041C>T	ENST00000301749.7	-	0	1302				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAACATCTGCTCCAAACACA	0.627																																						uc010btn.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(895-897)gaG>gaA		Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.							48	55	52					16																	3614041		2070	4205	6275			197358				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding	g.chr16:3614041C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614041C>T			Somatic					p.E299E	NM_178844	NP_849172	WXS	Illumina GAIIx	Phase_I	Q7RTR2	NLRC3_HUMAN			4	1308	-			299			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37	c.897G>A																																																																																					0.627	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		5	78	0	0	0	1	0	5	78					T	3614041	C	T	3614041	1	4	196	0	1	0	0	0	0	0	0	0	10468	796	28	2		2	NLRC3	16	3614041	RNA	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08		3614041	86740712	29	3511											
NFAT5	10725	broad.mit.edu	37	16	69727910	69727910	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:69727910A>T	ENST00000354436.2	+	12	4446	c.4128A>T	c.(4126-4128)ttA>ttT	p.L1376F	NFAT5_ENST00000567239.1_Missense_Mutation_p.L1393F|NFAT5_ENST00000566899.1_Missense_Mutation_p.L1300F|NFAT5_ENST00000393742.2_Missense_Mutation_p.L1300F|NFAT5_ENST00000432919.1_Missense_Mutation_p.L1394F|NFAT5_ENST00000349945.1_Missense_Mutation_p.L1300F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1376					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCTCTTCTTATCTCCAGCAT	0.453																																						uc002exl.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(4180-4182)ttA>ttT		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							142	116	125					16																	69727910		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727910A>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4128A>T	16.37:g.69727910A>T	ENSP00000346420:p.Leu1376Phe		Somatic				NFAT5_uc002exj.2_Missense_Mutation_p.L1300F|NFAT5_uc002exk.2_Missense_Mutation_p.L1300F|NFAT5_uc002exn.2_Missense_Mutation_p.L1393F|NFAT5_uc002exm.2_Missense_Mutation_p.L1376F|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.L1300F	p.L1394F	NM_138713	NP_775322	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			12	4518	+			1376					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.4182A>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589633	0.28357	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.69	-1.49	0.08718	.	0.214986	0.43260	D	0.000598	T	0.27419	0.0673	L	0.34521	1.04	0.33012	D	0.527594	P;B;B	0.43477	0.808;0.435;0.435	B;B;B	0.32864	0.154;0.055;0.055	T	0.28808	-1.0032	10	0.54805	T	0.06	-1.9392	2.5239	0.04687	0.1281:0.371:0.3108:0.1902	.	1393;1376;1394	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	F	1394;1393;1300;1376;1300	ENSP00000396538:L1394F;ENSP00000338806:L1300F;ENSP00000346420:L1376F;ENSP00000377343:L1300F	ENSP00000338806:L1300F	L	+	3	2	NFAT5	68285411	0.961000	0.32948	0.966000	0.40874	0.978000	0.69477	-0.199000	0.09491	-0.513000	0.06496	-0.331000	0.08364	TTA		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		29	61	0	0	0	1	0	29	61					T	69727910	A	T	69727910	3	4	196	1	0	0	0	0	1	0	0	0	10360	446	16	5	4232	5	NFAT5	16	69727910	Missense_Mutation	SNP	A	TCGA-EL-A3MZ-01A-11D-A21A-08	66113869	69727910	20626843	30	3512											
ARID3A	1820	broad.mit.edu	37	19	929631	929631	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:929631delC	ENST00000263620.3	+	2	430	c.103delC	c.(103-105)cccfs	p.P36fs	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	36			P -> H (in dbSNP:rs17857499). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CCCTGCTGCAccccccggccg	0.741																																					Pancreas(29;54 1022 32760 50921)	uc002lql.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(103-105)cccfs		Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.							1	2	2					19																	929631		933	2429	3362	SO:0001589	frameshift_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:929631delC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.103delC	19.37:g.929631delC	ENSP00000263620:p.Pro36fs		Somatic					p.P35fs	NM_005224	NP_005215	WXS	Illumina GAIIx	Phase_I	Q99856	ARI3A_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)	1	393	+		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)	35					Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Frame_Shift_Del	DEL	ENST00000263620.3	37	c.103delC	CCDS12050.1																																																																																				0.741	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		2	4						2	4	---	---	---	---	-	929631	C	-	929631	7	5	196	1	0	1	0	1	0	0	0	0	916	507	18	0	105	0	ARID3A	19	929631	Frame_Shift_Del	DEL	C	TCGA-EL-A3MZ-01A-11D-A21A-08		929631	58199352	31	3513											
DMRTC2	63946	broad.mit.edu	37	19	42351650	42351650	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:42351650G>A	ENST00000269945.3	+	2	205	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	DMRTC2_ENST00000602098.1_3'UTR|LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A52T|LYPD4_ENST00000330743.3_5'Flank	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	52					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGTGTCACCGCCCATCTCAA	0.617																																						uc010xwe.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(154-156)Gcc>Acc		Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.							78	69	72					19																	42351650		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351650G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.154G>A	19.37:g.42351650G>A	ENSP00000269945:p.Ala52Thr		Somatic				DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.A52T	p.A52T	NM_001040283	NP_001035373	WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			1	237	+			52					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.154G>A	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600590	0.46423	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	4.54	0.55810	DM DNA-binding (6);	0.197463	0.32416	N	0.006134	T	0.50582	0.1624	N	0.05306	-0.075	0.36663	D	0.878074	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.813	T	0.61441	-0.7062	9	0.41790	T	0.15	-10.8185	13.5035	0.61471	0.0:0.0:1.0:0.0	.	52;52	B4DX56;Q8IXT2	.;DMRTD_HUMAN	T	52	.	ENSP00000269945:A52T	A	+	1	0	DMRTC2	47043490	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	3.550000	0.53691	2.472000	0.83506	0.561000	0.74099	GCC		0.617	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		4	117	0	0	0	1	0	4	117					A	42351650	G	A	42351650	3	1	196	1	0	0	0	0	1	0	0	0	4591	1087	38	1	156	1	DMRTC2	19	42351650	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	41422019	42351650	16777333	32	3514											
SYNGR4	23546	broad.mit.edu	37	19	48869181	48869181	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:48869181G>T	ENST00000344846.2	+	2	332	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	TMEM143_ENST00000436660.2_5'Flank|TMEM143_ENST00000377431.2_5'Flank|TMEM143_ENST00000435956.3_5'Flank|TMEM143_ENST00000293261.3_5'Flank|TMEM143_ENST00000598012.1_5'Flank|TMEM143_ENST00000541566.1_5'Flank	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	28	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CATCACGCGGGTCTTCGAAGG	0.617																																						uc002piz.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(82-84)Gtc>Ttc		Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.							84	82	83					19																	48869181		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48869181G>T	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.82G>T	19.37:g.48869181G>T	ENSP00000344041:p.Val28Phe		Somatic				TMEM143_uc002piw.1_5'Flank|TMEM143_uc010xzn.1_5'Flank|TMEM143_uc010elw.1_5'Flank|TMEM143_uc010xzo.1_5'Flank|TMEM143_uc002pix.1_5'Flank|TMEM143_uc002piy.1_5'Flank|TMEM143_uc010xzp.1_5'Flank|TMEM143_uc010xzq.1_5'Flank|Mir_324_uc021uwt.1_5'Flank	p.V28F	NM_012451	NP_036583	WXS	Illumina GAIIx	Phase_I	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	1	333	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	28			MARVEL.		Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.82G>T	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580398	0.13686	.	.	ENSG00000105467	ENST00000344846	T	0.28255	1.62	4.92	2.77	0.32553	Marvel (1);MARVEL-like domain (1);	0.273852	0.34676	N	0.003778	T	0.18800	0.0451	N	0.25890	0.77	0.28370	N	0.920023	B	0.30211	0.273	B	0.29176	0.099	T	0.11518	-1.0584	10	0.42905	T	0.14	-15.8203	6.7547	0.23507	0.7631:0.1532:0.0837:0.0	.	28	O95473	SNG4_HUMAN	F	28	ENSP00000344041:V28F	ENSP00000344041:V28F	V	+	1	0	SYNGR4	53560993	0.998000	0.40836	0.764000	0.31436	0.006000	0.05464	0.572000	0.23684	0.293000	0.22520	-0.438000	0.05819	GTC		0.617	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			41	52	0	0	0	1	0	41	52					T	48869181	G	T	48869181	3	4	196	1	0	0	0	0	1	0	0	0	15448	1261	44	4	84	4	SYNGR4	19	48869181	Missense_Mutation	SNP	G	TCGA-EL-A3MZ-01A-11D-A21A-08	6517531	48869181	10259802	33	3515											
PPP2R1A	5518	broad.mit.edu	37	19	52719042	52719042	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:52719042C>T	ENST00000322088.6	+	7	876	c.818C>T	c.(817-819)gCa>gTa	p.A273V	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	273	PP2A subunit B binding.|Polyoma small and medium T antigens 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)		CTCCAGAAAGCAGTGGGGCCT	0.577			Mis		clear cell ovarian carcinoma																																	uc002pyp.3				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		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.(817-819)gCa>gTa		Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.							60	59	60					19																	52719042		2203	4300	6503	SO:0001583	missense	5518				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|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 DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|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.chr19:52719042C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.818C>T	19.37:g.52719042C>T	ENSP00000324804:p.Ala273Val		Somatic				PPP2R1A_uc010ydk.2_Missense_Mutation_p.A218V|PPP2R1A_uc010epm.1_Missense_Mutation_p.A313V|PPP2R1A_uc002pyq.3_Missense_Mutation_p.A94V	p.A273V	NM_014225	NP_055040	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	1113	+			273			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.818C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975313	0.74360	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.04234	3.67;3.67	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.07818	0.0196	M	0.71581	2.175	0.80722	D	1	P;B;B	0.40144	0.704;0.012;0.012	B;B;B	0.33196	0.159;0.007;0.007	T	0.10753	-1.0616	10	0.49607	T	0.09	-6.7782	15.501	0.75698	0.0:1.0:0.0:0.0	.	218;273;273	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	V	263;193;273;218	ENSP00000324804:A273V;ENSP00000415067:A218V	ENSP00000324804:A273V	A	+	2	0	PPP2R1A	57410854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.796000	0.75145	2.595000	0.87683	0.655000	0.94253	GCA		0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		29	69	0	0	0	1	0	29	69					T	52719042	C	T	52719042	3	4	196	1	0	0	0	0	1	0	0	0	12382	710	25	2	844	2	PPP2R1A	19	52719042	Missense_Mutation	SNP	C	TCGA-EL-A3MZ-01A-11D-A21A-08	3849861	52719042	6409941	34	3516											
HBXIP	10542	broad.mit.edu	37	1	110950445	110950445	+	5'Flank	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr1:110950445C>T	ENST00000602318.1	-	0	0				LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.S15N|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											AAGGCTTGGGCTCCCCGCGCG	0.627																																						uc001dzr.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(43-45)aGc>aAc		Homo sapiens hepatitis B virus x interacting protein (HBXIP), mRNA.							41	38	39					1																	110950445		2203	4300	6503	SO:0001631	upstream_gene_variant	10542				anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding	g.chr1:110950445C>T	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		1.37:g.110950445C>T	Exception_encountered		Somatic					p.S15N	NM_006402	NP_006393	WXS	Illumina GAIIx	Phase_I	O43504	HBXIP_HUMAN		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)	0	102	-		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	15					Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.44G>A		.	.	.	.	.	.	.	.	.	.	C	13.87	2.365096	0.41902	.	.	ENSG00000134248	ENST00000256644	.	.	.	2.11	-2.77	0.05877	.	.	.	.	.	T	0.07503	0.0189	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35201	-0.9798	4	.	.	.	.	3.7041	0.08394	0.0:0.2831:0.4145:0.3024	.	.	.	.	N	15	.	.	S	-	2	0	HBXIP	110751968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.014000	0.12656	-0.748000	0.04753	-0.300000	0.09419	AGC		0.627	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		33	41	0	0	0	1	0	33	41					T	110950445	C	T	110950445	1	4	197	0	1	0	0	0	0	0	0	0	6988	797	28	2		2	HBXIP	1	110950445	5'Flank	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		110950445	138300176	1	3517											
ITGAV	3685	broad.mit.edu	37	2	187532443	187532443	+	Silent	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr2:187532443G>A	ENST00000261023.3	+	24	2647	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ITGAV_ENST00000433736.2_Silent_p.E745E|ITGAV_ENST00000374907.3_Silent_p.E755E|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	791					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CAAACTGGGAGCACAAGGAGA	0.418																																					Melanoma(58;108 1995 6081)	uc002upq.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2371-2373)gaG>gaA		Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.							147	141	143					2																	187532443		2203	4300	6503	SO:0001819	synonymous_variant	3685				ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187532443G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2373G>A	2.37:g.187532443G>A			Somatic				ITGAV_uc010frs.3_Silent_p.E755E|ITGAV_uc010zfv.2_Silent_p.E745E	p.E791E	NM_002210	NP_002201	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	23	2649	+			791					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.2373G>A	CCDS2292.1																																																																																				0.418	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		4	172	0	0	0	1	0	4	172					A	187532443	G	A	187532443	2	1	197	1	0	0	0	0	0	0	0	1	7888	962	34	2		2	ITGAV	2	187532443	Silent	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		187532443	55666930	2	3518											
CACNA2D3	55799	broad.mit.edu	37	3	54919331	54919331	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr3:54919331G>A	ENST00000474759.1	+	22	1984	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D552N|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D646N|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D646N|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	646						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGAACATCCCGATGTGTCCTT	0.483																																						uc003dhf.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(1936-1938)Gat>Aat		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.							145	139	141					3																	54919331		1983	4152	6135	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54919331G>A	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1936G>A	3.37:g.54919331G>A	ENSP00000419101:p.Asp646Asn		Somatic				CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D552N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D380N|AK092143_uc003dhk.1_Intron	p.D646N	NM_018398	NP_060868	WXS	Illumina GAIIx	Phase_I	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	21	1984	+			646					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1936G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660654	0.88154	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	L	0.57130	1.785	0.54753	D	0.999981	D	0.89917	1.0	D	0.85130	0.997	T	0.25847	-1.0120	10	0.08599	T	0.76	-17.8596	18.7597	0.91845	0.0:0.0:1.0:0.0	.	646	Q8IZS8	CA2D3_HUMAN	N	646;646;646;552;552	ENSP00000389506:D646N;ENSP00000419101:D646N;ENSP00000288197:D646N;ENSP00000417279:D552N	ENSP00000288197:D646N	D	+	1	0	CACNA2D3	54894371	1.000000	0.71417	0.924000	0.36721	0.757000	0.42996	8.830000	0.92063	2.873000	0.98535	0.561000	0.74099	GAT		0.483	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			50	86	0	0	0	1	0	50	86					A	54919331	G	A	54919331	3	1	197	1	0	0	0	0	1	0	0	0	2550	1058	37	1	2022	1	CACNA2D3	3	54919331	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		54919331	143103099	3	3519											
BAZ1B	9031	broad.mit.edu	37	7	72861634	72861634	+	Silent	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr7:72861634C>T	ENST00000339594.4	-	16	4142	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	BAZ1B_ENST00000404251.1_Silent_p.E1268E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1268	Poly-Glu.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				cctcctcctcctcttcttcct	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3802-3804)gaG>gaA		Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.							178	145	156					7																	72861634		2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72861634C>T	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3804G>A	7.37:g.72861634C>T			Somatic					p.E1268E	NM_032408	NP_115784	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			15	4156	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1268			Poly-Glu.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.3804G>A	CCDS5549.1																																																																																				0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		4	109	0	0	0	1	0	4	109					T	72861634	C	T	72861634	2	4	197	1	0	0	0	0	0	0	0	1	1330	680	24	2		2	BAZ1B	7	72861634	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		72861634	86277029	4	3520											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	57	0	0	0	1	0	37	57					T	140453136	A	T	140453136	3	4	197	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3N2-01A-11D-A20C-08	67591502	140453136	18685527	5	3521											
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr		Somatic				DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	p.S741T	NM_182643	NP_872584	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			8	2666	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	98	0	0	0	1	0	4	98					G	12957624	C	G	12957624	3	3	197	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		12957624	133406398	6	3522											
ZNF16	7564	broad.mit.edu	37	8	146156288	146156288	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr8:146156288A>G	ENST00000276816.4	-	4	2071	c.1885T>C	c.(1885-1887)Tac>Cac	p.Y629H	ZNF16_ENST00000394909.2_Missense_Mutation_p.Y629H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	629					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGCATTTGTAGGGGCGCTCG	0.537																																						uc003zet.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1885-1887)Tac>Cac		Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.							107	104	105					8																	146156288		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146156288A>G	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1885T>C	8.37:g.146156288A>G	ENSP00000276816:p.Tyr629His		Somatic				ZNF16_uc003zeu.3_Missense_Mutation_p.Y629H	p.Y629H	NM_001029976	NP_008889	WXS	Illumina GAIIx	Phase_I	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	3	2072	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	629					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.1885T>C	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605439	0.66445	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.67345	-0.26;-0.26	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71065	0.3296	N	0.26092	0.79	0.24072	N	0.995972	D	0.89917	1.0	D	0.76071	0.987	T	0.61826	-0.6983	9	0.66056	D	0.02	.	12.015	0.53309	1.0:0.0:0.0:0.0	.	629	P17020	ZNF16_HUMAN	H	629	ENSP00000276816:Y629H;ENSP00000378369:Y629H	ENSP00000276816:Y629H	Y	-	1	0	ZNF16	146127092	0.177000	0.23109	0.987000	0.45799	0.931000	0.56810	2.789000	0.47813	1.673000	0.50895	0.379000	0.24179	TAC		0.537	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		4	150	0	0	0	1	0	4	150					G	146156288	A	G	146156288	3	3	197	1	0	0	0	0	1	0	0	0	17735	420	15	3	167	3	ZNF16	8	146156288	Missense_Mutation	SNP	A	TCGA-EL-A3N2-01A-11D-A20C-08	133198664	146156288	207734	7	3523											
JAK2	3717	broad.mit.edu	37	9	5044418	5044418	+	Silent	SNP	T	T	C			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:5044418T>C	ENST00000381652.3	+	5	860	c.366T>C	c.(364-366)cgT>cgC	p.R122R	JAK2_ENST00000539801.1_Silent_p.R122R|JAK2_ENST00000544510.1_5'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	122	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTTTCCTCGTTGGTATTGCA	0.393		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													uc010mhm.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(364-366)cgT>cgC		Homo sapiens Janus kinase 2 (JAK2), mRNA.							144	137	139					9																	5044418		2203	4300	6503	SO:0001819	synonymous_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	g.chr9:5044418T>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.366T>C	9.37:g.5044418T>C			Somatic				JAK2_uc003ziw.3_Silent_p.R122R	p.R122R	NM_004972	NP_004963	WXS	Illumina GAIIx	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	3	479	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	122			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.366T>C	CCDS6457.1																																																																																				0.393	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			3	138	0	0	0	1	0	3	138					C	5044418	T	C	5044418	2	2	197	1	0	0	0	0	0	0	0	1	7938	1712	60	3		3	JAK2	9	5044418	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		5044418	136169013	8	3524											
FBXO10	26267	broad.mit.edu	37	9	37537802	37537802	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr9:37537802C>T	ENST00000432825.2	-	3	772	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	242					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)		TTTTCCAGGACACACAGGGGC	0.498																																						uc004aac.3																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(772-774)Gtc>Atc		Homo sapiens F-box protein 10 (FBXO10), mRNA.							67	68	68					9																	37537802		1958	4140	6098	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537802C>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.724G>A	9.37:g.37537802C>T	ENSP00000403802:p.Val242Ile		Somatic				FBXO10_uc004aab.3_Missense_Mutation_p.V242I|FBXO10_uc004aad.3_Intron	p.V258I	NM_012166	NP_036298	WXS	Illumina GAIIx	Phase_I	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	852	-			242					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.772G>A	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705299	0.30232	.	.	ENSG00000147912	ENST00000432825	T	0.44482	0.92	5.06	3.13	0.36017	Pectin lyase fold/virulence factor (1);	0.155554	0.43919	D	0.000506	T	0.25827	0.0629	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05869	-1.0859	10	0.54805	T	0.06	-23.4	6.0733	0.19901	0.0:0.6564:0.1538:0.1898	.	242	Q9UK96	FBX10_HUMAN	I	242	ENSP00000403802:V242I	ENSP00000276960:V242I	V	-	1	0	FBXO10	37527802	0.762000	0.28451	0.999000	0.59377	0.844000	0.47949	0.253000	0.18296	0.575000	0.29434	0.655000	0.94253	GTC		0.498	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			27	56	0	0	0	1	0	27	56					T	37537802	C	T	37537802	3	4	197	1	0	0	0	0	1	0	0	0	5726	478	17	2	2182	2	FBXO10	9	37537802	Missense_Mutation	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08	32493384	37537802	103675629	9	3525											
DDX51	317781	broad.mit.edu	37	12	132625900	132625900	+	Silent	SNP	C	C	T	rs199515732		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr12:132625900C>T	ENST00000397333.3	-	8	1208	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	390	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		GGAAGGCGGCCGCCACCACCC	0.687																																						uc001ujy.4																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1168-1170)gcG>gcA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.							46	58	54					12																	132625900		1990	4114	6104	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625900C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1170G>A	12.37:g.132625900C>T			Somatic					p.A390A	NM_175066	NP_778236	WXS	Illumina GAIIx	Phase_I	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	7	1209	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	390			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.1170G>A	CCDS41865.1																																																																																				0.687	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		91	159	0	0	0	1	0	91	159					T	132625900	C	T	132625900	2	4	197	1	0	0	0	0	0	0	0	1	4369	639	23	1		1	DDX51	12	132625900	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08		132625900	1225995	10	3526											
SLC5A2	6524	broad.mit.edu	37	16	31500259	31500259	+	Missense_Mutation	SNP	G	G	A	rs376838977		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr16:31500259G>A	ENST00000330498.3	+	11	1358	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	447					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GGTGCAGGCGGCACAGGGCGG	0.682																																						uc002ecf.4																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1339-1341)Gca>Aca		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.							50	47	48					16																	31500259		2197	4299	6496	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500259G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1339G>A	16.37:g.31500259G>A	ENSP00000327943:p.Ala447Thr		Somatic				SLC5A2_uc010car.3_Intron|C16orf58_uc002ecg.3_Non-coding_Transcript	p.A447T	NM_003041	NP_003032	WXS	Illumina GAIIx	Phase_I	P31639	SC5A2_HUMAN			10	1358	+			447					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1339G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294974	0.95574	.	.	ENSG00000140675	ENST00000330498	D	0.88509	-2.39	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92213	0.5778	10	0.40728	T	0.16	.	15.5974	0.76595	0.0:0.0:1.0:0.0	.	447	P31639	SC5A2_HUMAN	T	447	ENSP00000327943:A447T	ENSP00000327943:A447T	A	+	1	0	SLC5A2	31407760	1.000000	0.71417	0.250000	0.24296	0.928000	0.56348	7.743000	0.85020	2.549000	0.85964	0.561000	0.74099	GCA		0.682	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			4	126	0	0	0	1	0	4	126					A	31500259	G	A	31500259	3	1	197	1	0	0	0	0	1	0	0	0	14665	1203	42	2	1381	2	SLC5A2	16	31500259	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		31500259	58854494	11	3527											
KCNA7	3743	broad.mit.edu	37	19	49575500	49575500	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:49575500G>A	ENST00000221444.1	-	1	698	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	115					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CGCTCGGGCGGCACCGGGCAG	0.746																																					Colon(74;686 1235 3793 23366 48562)	uc002pmg.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(343-345)Ccg>Tcg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.							5	8	7					19																	49575500		1983	3830	5813	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49575500G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.343C>T	19.37:g.49575500G>A	ENSP00000221444:p.Pro115Ser		Somatic					p.P115S	NM_031886	NP_114092	WXS	Illumina GAIIx	Phase_I	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	0	699	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	115					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.343C>T	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228185	0.39399	.	.	ENSG00000104848	ENST00000221444	D	0.97505	-4.41	3.37	2.2	0.27929	.	0.284012	0.30901	N	0.008656	D	0.94231	0.8148	L	0.37850	1.14	0.34693	D	0.725932	B	0.31026	0.304	B	0.38296	0.27	D	0.95666	0.8719	10	0.72032	D	0.01	.	9.5732	0.39440	0.0:0.4295:0.5705:0.0	.	115	Q96RP8	KCNA7_HUMAN	S	115	ENSP00000221444:P115S	ENSP00000221444:P115S	P	-	1	0	KCNA7	54267312	1.000000	0.71417	0.980000	0.43619	0.539000	0.34962	6.209000	0.72171	1.930000	0.55929	0.485000	0.47835	CCG		0.746	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		3	37	0	0	0	1	0	3	37					A	49575500	G	A	49575500	3	1	197	1	0	0	0	0	1	0	0	0	8008	1203	42	2	1035	2	KCNA7	19	49575500	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		49575500	9553483	12	3528											
NLRP5	126206	broad.mit.edu	37	19	56539568	56539568	+	Missense_Mutation	SNP	G	G	A	rs370513314		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr19:56539568G>A	ENST00000390649.3	+	7	1969	c.1969G>A	c.(1969-1971)Gtt>Att	p.V657I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	657					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.V657I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGCTGTCCCGTTCCCCTGGG	0.597																																						uc002qmj.3																			2	Substitution - Missense(2)	p.V657I(2)	kidney(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1969-1971)Gtt>Att		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.		G	ILE/VAL	0,3966		0,0,1983	62	65	64		1969	-0.3	0.0	19		64	1,8307		0,1,4153	no	missense	NLRP5	NM_153447.4	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	657/1201	56539568	1,12273	1983	4154	6137	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539568G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1969G>A	19.37:g.56539568G>A	ENSP00000375063:p.Val657Ile		Somatic				NLRP5_uc002qmi.3_Missense_Mutation_p.V638I	p.V657I	NM_153447	NP_703148	WXS	Illumina GAIIx	Phase_I	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	6	1969	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	657					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1969G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170697	0.21621	0.0	1.2E-4	ENSG00000171487	ENST00000390649	D	0.88975	-2.45	3.26	-0.266	0.12942	.	0.497253	0.15090	N	0.281128	T	0.79907	0.4527	L	0.52905	1.665	0.09310	N	1	P	0.43607	0.812	B	0.36845	0.234	T	0.68228	-0.5464	10	0.22109	T	0.4	.	3.4644	0.07544	0.2522:0.2153:0.5325:0.0	.	657	P59047	NALP5_HUMAN	I	657	ENSP00000375063:V657I	ENSP00000375063:V657I	V	+	1	0	NLRP5	61231380	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.169000	0.16641	0.044000	0.15775	-0.258000	0.10820	GTT		0.597	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		50	76	0	0	0	1	0	50	76					A	56539568	G	A	56539568	3	1	197	1	0	0	0	0	1	0	0	0	10480	1145	40	1	1995	1	NLRP5	19	56539568	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08	6964068	56539568	2589415	13	3529											
SEL1L2	80343	broad.mit.edu	37	20	13850192	13850192	+	Silent	SNP	T	T	C			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:13850192T>C	ENST00000284951.5	-	14	1286	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.K404K			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	404						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393																																						uc010gcf.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1210-1212)aaA>aaG		Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.							106	99	101					20																	13850192		1868	4113	5981	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13850192T>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1212A>G	20.37:g.13850192T>C			Somatic				SEL1L2_uc002woq.4_Silent_p.K265K|SEL1L2_uc010zrl.2_Silent_p.K404K|SEL1L2_uc002wor.3_Non-coding_Transcript	p.K404K	NM_025229	NP_079505	WXS	Illumina GAIIx	Phase_I	Q5TEA6	SE1L2_HUMAN			13	1294	-			404					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1212A>G																																																																																					0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		3	111	0	0	0	1	0	3	111					C	13850192	T	C	13850192	2	2	197	1	0	0	0	0	0	0	0	1	14011	1606	56	3		3	SEL1L2	20	13850192	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		13850192	49175328	14	3530											
NCOA6	23054	broad.mit.edu	37	20	33338270	33338270	+	Silent	SNP	C	C	T	rs201030340		TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr20:33338270C>T	ENST00000374796.2	-	10	4298	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	NCOA6_ENST00000359003.2_Silent_p.P576P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	576	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-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						TCATATTTGGCGGCCCGTGGG	0.453																																						uc002xav.3																			0		p.G575W(1)		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.(1726-1728)ccG>ccA		Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.							45	47	46					20																	33338270		2203	4299	6502	SO:0001819	synonymous_variant	23054				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|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.chr20:33338270C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1728G>A	20.37:g.33338270C>T			Somatic				NCOA6_uc002xaw.3_Silent_p.P576P|NCOA6_uc021wcd.1_Silent_p.P576P|NCOA6_uc021wce.1_Silent_p.P576P|NCOA6_uc021wcf.1_Silent_p.P576P	p.P576P	NM_014071	NP_054790	WXS	Illumina GAIIx	Phase_I	Q14686	NCOA6_HUMAN			9	4299	-			576			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.1728G>A	CCDS13241.1																																																																																				0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	135	0	0	0	1	0	4	135					T	33338270	C	T	33338270	2	4	197	1	0	0	0	0	0	0	0	1	10233	755	27	1		1	NCOA6	20	33338270	Silent	SNP	C	TCGA-EL-A3N2-01A-11D-A20C-08	19488078	33338270	29687250	15	3531											
CBX6	23466	broad.mit.edu	37	22	39262611	39262611	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chr22:39262611G>A	ENST00000407418.3	-	5	965	c.842C>T	c.(841-843)cCt>cTt	p.P281L	CBX6_ENST00000216083.6_Missense_Mutation_p.P263L			O95503	CBX6_HUMAN	chromobox homolog 6	281					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTGTGGTGTAGGCGAGGGGCA	0.746																																						uc003awl.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(841-843)cCt>cTt		Homo sapiens chromobox homolog 6 (CBX6), mRNA.							5	6	5					22																	39262611		2097	4114	6211	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262611G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.842C>T	22.37:g.39262611G>A	ENSP00000384490:p.Pro281Leu		Somatic					p.P281L	NM_014292	NP_055107	WXS	Illumina GAIIx	Phase_I	O95503	CBX6_HUMAN			4	905	-	Melanoma(58;0.04)		281					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.842C>T	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894303	0.52121	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.29	4.29	0.51040	.	2.932620	0.02096	U	0.053549	T	0.60431	0.2268	L	0.27053	0.805	0.58432	D	0.999992	P	0.47762	0.9	P	0.47044	0.535	T	0.52711	-0.8539	9	0.56958	D	0.05	.	16.7618	0.85514	0.0:0.0:1.0:0.0	.	281	O95503	CBX6_HUMAN	L	281;263	.	ENSP00000216083:P263L	P	-	2	0	CBX6	37592557	1.000000	0.71417	0.402000	0.26371	0.281000	0.26958	6.210000	0.72176	1.946000	0.56461	0.407000	0.27541	CCT		0.746	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		13	11	0	0	0	1	0	13	11					A	39262611	G	A	39262611	3	1	197	1	0	0	0	0	1	0	0	0	2722	1000	35	2	400	2	CBX6	22	39262611	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08		39262611	12041955	16	3532											
TAF1	6872	broad.mit.edu	37	X	70598838	70598838	+	Silent	SNP	T	T	C			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:70598838T>C	ENST00000373790.4	+	8	1365	c.1314T>C	c.(1312-1314)ccT>ccC	p.P438P	TAF1_ENST00000449580.1_Silent_p.P438P|TAF1_ENST00000423759.1_Silent_p.P459P|TAF1_ENST00000276072.3_Silent_p.P459P	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	438					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCTGGCTTCCTTCTAGCATGA	0.498																																						uc004dzt.4																			0		p.L458V(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1375-1377)ccT>ccC		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 1, mRNA.							185	138	154					X																	70598838		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity	g.chrX:70598838T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1314T>C	X.37:g.70598838T>C			Somatic				BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzu.4_Silent_p.P438P	p.P459P	NM_004606	NP_004597	WXS	Illumina GAIIx	Phase_I	P21675	TAF1_HUMAN			7	1428	+	Renal(35;0.156)	all_lung(315;0.000321)	438					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.1377T>C	CCDS35325.1																																																																																				0.498	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		5	287	0	0	0	1	0	5	287					C	70598838	T	C	70598838	2	2	197	1	0	0	0	0	0	0	0	1	15510	1596	56	3		3	TAF1	23	70598838	Silent	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08		70598838	84671722	17	3533											
SRPX2	27286	broad.mit.edu	37	X	99920610	99920610	+	Missense_Mutation	SNP	G	G	A	rs146063801	byFrequency	TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:99920610G>A	ENST00000373004.3	+	7	1165	c.737G>A	c.(736-738)cGa>cAa	p.R246Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	246	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GCCTATGACCGAGCCTACAAC	0.488													G|||	1	0.000264901	0	0	3775	,	,		15014	0.001		0	False		,,,				2504	0					uc004egb.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(736-738)cGa>cAa		Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.		G	GLN/ARG	3,3832		0,3,1629,571	127	117	121		737	0.0	0.9	X	dbSNP_134	121	1,6727		0,1,2427,1872	yes	missense	SRPX2	NM_014467.2	43	0,4,4056,2443	AA,AG,GG,G		0.0149,0.0782,0.0379	benign	246/466	99920610	4,10559	2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99920610G>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.737G>A	X.37:g.99920610G>A	ENSP00000362095:p.Arg246Gln		Somatic					p.R246Q	NM_014467	NP_055282	WXS	Illumina GAIIx	Phase_I	O60687	SRPX2_HUMAN			6	1217	+			246			HYR.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.737G>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711448	0.30322	7.82E-4	1.49E-4	ENSG00000102359	ENST00000373004	T	0.22336	1.96	5.74	0.0403	0.14208	Hyalin (2);	0.320421	0.34025	N	0.004332	T	0.07413	0.0187	N	0.11560	0.145	0.36134	D	0.846306	B	0.10296	0.003	B	0.04013	0.001	T	0.32188	-0.9916	9	.	.	.	-0.0303	2.0582	0.03586	0.4165:0.12:0.3387:0.1248	.	246	O60687	SRPX2_HUMAN	Q	246	ENSP00000362095:R246Q	.	R	+	2	0	SRPX2	99807266	0.973000	0.33851	0.948000	0.38648	0.764000	0.43329	0.227000	0.17795	-0.489000	0.06716	-0.225000	0.12378	CGA		0.488	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		105	194	0	0	0	1	0	105	194					A	99920610	G	A	99920610	3	1	197	1	0	0	0	0	1	0	0	0	15164	1058	37	1	759	1	SRPX2	23	99920610	Missense_Mutation	SNP	G	TCGA-EL-A3N2-01A-11D-A20C-08	29321772	99920610	55349950	18	3534											
NXF3	56000	broad.mit.edu	37	X	102339349	102339349	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3N2-01A-11D-A20C-08	TCGA-EL-A3N2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f84a779-b700-4702-b234-39c737bc0d0c	e7aeb5ff-8428-4949-a030-0b0463322b6a	g.chrX:102339349T>A	ENST00000395065.3	-	3	373	c.272A>T	c.(271-273)gAg>gTg	p.E91V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E2V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	91					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTCTCTCTCCATGTTAAC	0.478																																						uc004eju.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(271-273)gAg>gTg		Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.							234	180	198					X																	102339349		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339349T>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.272A>T	X.37:g.102339349T>A	ENSP00000378504:p.Glu91Val		Somatic				NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.E91V|NXF3_uc011mrx.1_Missense_Mutation_p.E2V	p.E91V	NM_022052	NP_071335	WXS	Illumina GAIIx	Phase_I	Q9H4D5	NXF3_HUMAN			2	343	-			91					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.272A>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255630	0.39896	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.47869	0.88;0.83	3.69	-1.64	0.08318	.	0.129758	0.33712	N	0.004623	T	0.47451	0.1446	L	0.52573	1.65	0.09310	N	1	D;P	0.89917	1.0;0.885	D;P	0.71656	0.974;0.449	T	0.46816	-0.9164	10	0.13470	T	0.59	-4.5913	3.0781	0.06253	0.1914:0.3225:0.0:0.4861	.	91;91	B4DYI1;Q9H4D5	.;NXF3_HUMAN	V	91;2	ENSP00000378504:E91V;ENSP00000404347:E2V	ENSP00000378504:E91V	E	-	2	0	NXF3	102226005	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.482000	0.22276	-0.446000	0.07149	-0.443000	0.05667	GAG		0.478	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		111	173	0	0	0	1	0	111	173					A	102339349	T	A	102339349	3	1	197	1	0	0	0	0	1	0	0	0	10785	1551	54	5	1391	5	NXF3	23	102339349	Missense_Mutation	SNP	T	TCGA-EL-A3N2-01A-11D-A20C-08	2418739	102339349	52931211	19	3535											
CHD5	26038	broad.mit.edu	37	1	6194802	6194802	+	Silent	SNP	G	G	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:6194802G>C	ENST00000262450.3	-	19	3087	c.2988C>G	c.(2986-2988)ccC>ccG	p.P996P	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)		GGAAGAGGTAGGGGTGGTTGC	0.587																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2986-2988)ccC>ccG		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							218	227	224					1																	6194802		2203	4300	6503	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.chr1:6194802G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2988C>G	1.37:g.6194802G>C			Somatic				CHD5_uc001alz.2_5'Flank|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	p.P996P	NM_015557	NP_056372	WXS	Illumina GAIIx	Phase_I	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)	18	3099	-	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)	996					A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2988C>G	CCDS57.1																																																																																				0.587	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		76	195	0	0	0	1	0	76	195					C	6194802	G	C	6194802	2	2	198	1	0	0	0	0	0	0	0	1	3328	987	35	4		4	CHD5	1	6194802	Silent	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08		6194802	243055819	1	3536											
KIAA0090	23065	broad.mit.edu	37	1	19557814	19557814	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:19557814G>A	ENST00000477853.1	-	16	1927	c.1885C>T	c.(1885-1887)Ctc>Ttc	p.L629F	EMC1_ENST00000375208.3_Missense_Mutation_p.L607F|EMC1_ENST00000375199.3_Missense_Mutation_p.L628F|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	629						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											ATGACTGGGAGAAGCAAGGAC	0.502																																						uc001bbo.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1885-1887)Ctc>Ttc		Homo sapiens KIAA0090 (KIAA0090), mRNA.							134	138	137					1																	19557814		2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19557814G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1885C>T	1.37:g.19557814G>A	ENSP00000420608:p.Leu629Phe		Somatic				KIAA0090_uc001bbp.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbq.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbr.3_Missense_Mutation_p.L607F	p.L629F	NM_015047	NP_055862	WXS	Illumina GAIIx	Phase_I	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	15	1928	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	629					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.1885C>T	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.54|18.54	3.646002|3.646002	0.67358|0.67358	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.34472|.	1.36;1.37;1.37|.	4.73|4.73	3.81|3.81	0.43845|0.43845	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	P;P;B;B|.	0.36125|.	0.538;0.538;0.36;0.246|.	B;B;B;B|.	0.43225|.	0.412;0.412;0.139;0.066|.	T|T	0.74763|0.74763	-0.3555|-0.3555	9|5	.|.	.|.	.|.	-14.9412|-14.9412	10.3467|10.3467	0.43909|0.43909	0.0935:0.0:0.9065:0.0|0.0935:0.0:0.9065:0.0	.|.	607;628;628;629|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	F|F	629;628;607|362	ENSP00000420608:L629F;ENSP00000364345:L628F;ENSP00000364354:L607F|.	.|.	L|S	-|-	1|2	0|0	KIAA0090|KIAA0090	19430401|19430401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.114000|5.114000	0.64648|0.64648	1.105000|1.105000	0.41606|0.41606	0.462000|0.462000	0.41574|0.41574	CTC|TCT		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		4	256	0	0	0	1	0	4	256					A	19557814	G	A	19557814	3	1	198	1	0	0	0	0	1	0	0	0	8153	942	33	2	1128	2	KIAA0090	1	19557814	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	13363012	19557814	229692807	2	3537											
TCF7L1	83439	broad.mit.edu	37	2	85533408	85533408	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:85533408A>T	ENST00000282111.3	+	9	1344	c.1069A>T	c.(1069-1071)Atg>Ttg	p.M357L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	357					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CATGTTGTATATGAAGGAGAT	0.512																																						uc002soy.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1069-1071)Atg>Ttg		Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.							128	117	121					2																	85533408		2203	4300	6503	SO:0001583	missense	83439				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85533408A>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1069A>T	2.37:g.85533408A>T	ENSP00000282111:p.Met357Leu		Somatic					p.M357L	NM_031283	NP_112573	WXS	Illumina GAIIx	Phase_I	Q9HCS4	TF7L1_HUMAN			8	1294	+			357					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.1069A>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	A	30	5.054709	0.93793	.	.	ENSG00000152284	ENST00000282111	D	0.97850	-4.57	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.64170	1.965	0.80722	D	1	P	0.45348	0.856	P	0.60949	0.881	D	0.98834	1.0752	10	0.87932	D	0	.	12.9671	0.58490	1.0:0.0:0.0:0.0	.	357	Q9HCS4	TF7L1_HUMAN	L	357	ENSP00000282111:M357L	ENSP00000282111:M357L	M	+	1	0	TCF7L1	85386919	1.000000	0.71417	0.987000	0.45799	0.957000	0.61999	9.323000	0.96364	1.952000	0.56665	0.482000	0.46254	ATG		0.512	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		22	58	0	0	0	1	0	22	58					T	85533408	A	T	85533408	3	4	198	1	0	0	0	0	1	0	0	0	15694	449	16	5	1103	5	TCF7L1	2	85533408	Missense_Mutation	SNP	A	TCGA-EL-A3N3-01A-11D-A20C-08		85533408	157665965	3	3538											
BOLL	66037	broad.mit.edu	37	2	198640461	198640461	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:198640461C>G	ENST00000392296.4	-	5	589	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	BOLL_ENST00000321801.7_Missense_Mutation_p.E106Q|BOLL_ENST00000433157.1_Missense_Mutation_p.E94Q|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000430004.1_Missense_Mutation_p.E94Q	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	94	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTAAGTTTTTCAGCCtaaaat	0.249																																						uc002uuu.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(298-300)Gaa>Caa		Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.							62	64	64					2																	198640461		2200	4275	6475	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity	g.chr2:198640461C>G		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.280G>C	2.37:g.198640461C>G	ENSP00000376116:p.Glu94Gln		Somatic				BOLL_uc002uur.2_Missense_Mutation_p.E100Q|BOLL_uc002uus.2_Missense_Mutation_p.E94Q|BOLL_uc002uut.2_Missense_Mutation_p.E106Q|BOLL_uc010zha.1_Intron	p.E100Q	NM_033030	NP_149019	WXS	Illumina GAIIx	Phase_I	Q8N9W6	BOLL_HUMAN			4	677	-			94			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.298G>C	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236428	0.58886	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.221025	0.40144	N	0.001170	T	0.24661	0.0598	N	0.13327	0.33	0.80722	D	1	P;P;B;B	0.39862	0.541;0.692;0.121;0.099	B;B;B;B	0.39840	0.157;0.311;0.155;0.096	T	0.08330	-1.0727	10	0.72032	D	0.01	-12.0074	11.635	0.51198	0.0:0.9157:0.0:0.0843	.	100;106;94;100	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	Q	94;94;106;94	ENSP00000397711:E94Q;ENSP00000376116:E94Q;ENSP00000314792:E106Q;ENSP00000396099:E94Q	ENSP00000314792:E106Q	E	-	1	0	BOLL	198348706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.346000	0.52190	2.485000	0.83878	0.650000	0.86243	GAA		0.249	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		10	39	0	0	0	1	0	10	39					G	198640461	C	G	198640461	3	3	198	1	0	0	0	0	1	0	0	0	1487	835	29	4	599	4	BOLL	2	198640461	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08	113107053	198640461	44558912	4	3539											
MYLK	4638	broad.mit.edu	37	3	123420311	123420311	+	Silent	SNP	C	C	T			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr3:123420311C>T	ENST00000475616.1	-	14	2435	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MYLK_ENST00000346322.5_Silent_p.Q743Q|MYLK_ENST00000359169.1_Silent_p.Q812Q|MYLK_ENST00000360304.3_Silent_p.Q812Q|MYLK_ENST00000360772.3_Silent_p.Q812Q|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	812	Ig-like C2-type 6.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGAGCTGTTCTGTAGCATCA	0.607																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2434-2436)caG>caA		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							69	73	72					3																	123420311		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123420311C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2436G>A	3.37:g.123420311C>T			Somatic				MYLK_uc011bjw.2_Silent_p.Q812Q|MYLK_uc003egp.3_Silent_p.Q743Q|MYLK_uc003egq.3_Silent_p.Q812Q|MYLK_uc003egr.3_Silent_p.Q743Q|MYLK_uc003egs.3_Silent_p.Q636Q|MYLK_uc003egt.3_Silent_p.Q3Q	p.Q812Q	NM_053025	NP_444253	WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	16	2718	-		Lung NSC(201;0.0496)	812			Ig-like C2-type 6.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2436G>A	CCDS46896.1																																																																																				0.607	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		32	170	0	0	0	1	0	32	170					T	123420311	C	T	123420311	2	4	198	1	0	0	0	0	0	0	0	1	10056	912	32	2		2	MYLK	3	123420311	Silent	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08		123420311	74602119	5	3540											
ODZ2	57451	broad.mit.edu	37	5	167655023	167655023	+	Missense_Mutation	SNP	T	T	C	rs6859235		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr5:167655023T>C	ENST00000518659.1	+	25	5447	c.5408T>C	c.(5407-5409)aTt>aCt	p.I1803T	TENM2_ENST00000403607.2_Missense_Mutation_p.I1627T|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.I1682T|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564T|TENM2_ENST00000545108.1_Missense_Mutation_p.I1802T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1803					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)										ACCCCCACCATTGGACGCTGC	0.512																																						uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(5380-5382)aTt>aCt		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.							51	54	53					5																	167655023		2051	4201	6252	SO:0001583	missense	57451							g.chr5:167655023T>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5408T>C	5.37:g.167655023T>C	ENSP00000429430:p.Ile1803Thr		Somatic				ODZ2_uc003lzr.4_Missense_Mutation_p.I1564T|ODZ2_uc003lzt.4_Missense_Mutation_p.I1167T|ODZ2_uc010jje.3_Missense_Mutation_p.I1058T	p.I1794T	NM_001122679	NP_001116151	WXS	Illumina GAIIx	Phase_I			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	24	5381	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5381T>C		.	.	.	.	.	.	.	.	.	.	T	19.26	3.792826	0.70452	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.08;-2.07;-2.18;-2.54;-2.55	5.66	5.66	0.87406	.	0.090234	0.85682	D	0.000000	D	0.92364	0.7577	L	0.53249	1.67	0.50813	D	0.999899	P;P;D	0.58970	0.868;0.61;0.984	P;B;D	0.69479	0.492;0.219;0.964	D	0.91118	0.4927	10	0.31617	T	0.26	.	15.8895	0.79286	0.0:0.0:0.0:1.0	rs6859235;rs6859235	1802;1803;1564	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	T	1803;1802;1682;1564;1627	ENSP00000429430:I1803T;ENSP00000438635:I1802T;ENSP00000428964:I1682T;ENSP00000427874:I1564T;ENSP00000384905:I1627T	ENSP00000384905:I1627T	I	+	2	0	ODZ2	167587601	1.000000	0.71417	0.964000	0.40570	0.930000	0.56654	6.289000	0.72696	2.153000	0.67306	0.459000	0.35465	ATT		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		19	31	0	0	0	1	0	19	31					C	167655023	T	C	167655023	3	2	198	1	0	0	0	0	1	0	0	0	10835	1493	52	3	5479	3	ODZ2	5	167655023	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		167655023	13260237	6	3541											
MDN1	23195	broad.mit.edu	37	6	90384187	90384187	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:90384187T>A	ENST00000369393.3	-	79	12998	c.12883A>T	c.(12883-12885)Atg>Ttg	p.M4295L	MDN1_ENST00000428876.1_Missense_Mutation_p.M4295L|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4295					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)		TGGCACTGCATGGCCAGGTGC	0.652																																						uc003pnn.1																			0				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						c.(12883-12885)Atg>Ttg		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							25	25	25					6																	90384187		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384187T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12883A>T	6.37:g.90384187T>A	ENSP00000358400:p.Met4295Leu		Somatic					p.M4295L	NM_014611	NP_055426	WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	78	12999	-		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)	4295					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12883A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214634	0.39102	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02787	4.16;4.16	5.87	5.87	0.94306	.	0.095560	0.64402	D	0.000001	T	0.01661	0.0053	L	0.49126	1.545	0.33607	D	0.603137	B	0.15719	0.014	B	0.16289	0.015	T	0.48364	-0.9042	10	0.20046	T	0.44	.	16.27	0.82612	0.0:0.0:0.0:1.0	.	4295	Q9NU22	MDN1_HUMAN	L	4295	ENSP00000358400:M4295L;ENSP00000413970:M4295L	ENSP00000358400:M4295L	M	-	1	0	MDN1	90440908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.599000	0.54045	2.248000	0.74166	0.533000	0.62120	ATG		0.652	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	19	0	0	0	1	0	9	19					A	90384187	T	A	90384187	3	1	198	1	0	0	0	0	1	0	0	0	9415	1464	51	5	4003	5	MDN1	6	90384187	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		90384187	80730880	7	3542											
CENPW	387103	broad.mit.edu	37	6	126661490	126661490	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:126661490G>A	ENST00000368328.4	+	1	171	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CENPW_ENST00000368325.1_Missense_Mutation_p.R24Q|CENPW_ENST00000368326.1_Missense_Mutation_p.R24Q			Q5EE01	CENPW_HUMAN	centromere protein W	24					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						TTTCTAAAGCGAGTCTTCAAG	0.542																																						uc003qao.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(70-72)cGa>cAa		Homo sapiens centromere protein W (CENPW), mRNA.							87	80	82					6																	126661490		2203	4300	6503	SO:0001583	missense	387103					chromosome, centromeric region|nucleus	DNA binding	g.chr6:126661490G>A	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.71G>A	6.37:g.126661490G>A	ENSP00000357311:p.Arg24Gln		Somatic					p.R24Q	NM_001012507	NP_001012525	WXS	Illumina GAIIx	Phase_I	Q5EE01	CENPW_HUMAN			0	238	+			24					A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	c.71G>A	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695973	0.88830	.	.	ENSG00000203760	ENST00000368326;ENST00000368325;ENST00000368328	T	0.35421	1.31	5.32	5.32	0.75619	Histone-fold (1);	0.000000	0.49305	D	0.000142	T	0.30262	0.0759	.	.	.	0.20403	N	0.999906	D	0.69078	0.997	P	0.51193	0.662	T	0.07947	-1.0746	9	0.46703	T	0.11	.	14.3678	0.66817	0.0:0.0:1.0:0.0	.	24	Q5EE01	CENPW_HUMAN	Q	24	ENSP00000357311:R24Q	ENSP00000357308:R24Q	R	+	2	0	CENPW	126703183	0.711000	0.27906	0.494000	0.27515	0.977000	0.68977	2.143000	0.42187	2.767000	0.95098	0.563000	0.77884	CGA		0.542	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1			26	52	0	0	0	1	0	26	52					A	126661490	G	A	126661490	3	1	198	1	0	0	0	0	1	0	0	0	3244	1058	37	1	73	1	CENPW	6	126661490	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	36277303	126661490	44453577	8	3543											
SYNE1	23345	broad.mit.edu	37	6	152590391	152590391	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:152590391C>A	ENST00000367255.5	-	99	19205	c.18604G>T	c.(18604-18606)Gtt>Ttt	p.V6202F	SYNE1_ENST00000341594.5_Missense_Mutation_p.V5814F|SYNE1_ENST00000265368.4_Missense_Mutation_p.V6202F|SYNE1_ENST00000423061.1_Missense_Mutation_p.V6131F|SYNE1_ENST00000356820.4_Missense_Mutation_p.V726F|SYNE1_ENST00000448038.1_Missense_Mutation_p.V6131F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6202					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)		GTTAGGTCAACATCGCTCTCC	0.562										HNSCC(10;0.0054)																												uc021zhb.1																			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.(18604-18606)Gtt>Ttt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							166	127	141					6																	152590391		2203	4300	6503	SO:0001583	missense	23345				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	g.chr6:152590391C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18604G>T	6.37:g.152590391C>A	ENSP00000356224:p.Val6202Phe	HNSCC(10;0.0054)	Somatic				SYNE1_uc003qos.4_Missense_Mutation_p.V726F|SYNE1_uc003qot.4_Missense_Mutation_p.V6131F|SYNE1_uc003qou.4_Missense_Mutation_p.V6202F	p.V6202F	NM_182961	NP_892006	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18827	-		Ovarian(120;0.0955)	6202					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.18604G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250822	0.39797	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56611	0.55;0.56;0.45;0.56;0.68;0.86	5.57	4.68	0.58851	.	1.162910	0.06406	N	0.719698	T	0.20861	0.0502	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28605	0.083;0.083;0.217	B;B;B	0.28916	0.027;0.027;0.096	T	0.28490	-1.0042	10	0.10111	T	0.7	.	9.3055	0.37872	0.3673:0.4961:0.1367:0.0	.	6202;6202;6131	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	F	6202;6131;6202;6131;5814;726	ENSP00000356224:V6202F;ENSP00000396024:V6131F;ENSP00000265368:V6202F;ENSP00000390975:V6131F;ENSP00000341887:V5814F;ENSP00000349276:V726F	ENSP00000265368:V6202F	V	-	1	0	SYNE1	152632084	0.000000	0.05858	0.002000	0.10522	0.309000	0.27889	0.962000	0.29280	1.444000	0.47605	0.655000	0.94253	GTT		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	84	0	0	0	1	0	28	84					A	152590391	C	A	152590391	3	1	198	1	0	0	0	0	1	0	0	0	15442	478	17	4	8054	4	SYNE1	6	152590391	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08	25928901	152590391	18524676	9	3544											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	82	0	0	0	1	0	25	82					T	140453136	A	T	140453136	3	4	198	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3N3-01A-11D-A20C-08		140453136	18685527	10	3545											
SLC4A2	6522	broad.mit.edu	37	7	150773217	150773217	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:150773217G>A	ENST00000485713.1	+	22	4629	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1183M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1188M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1197M|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1115M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1197	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)		CATCCTCACAGTGCCGCTCCG	0.637																																						uc022apz.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.(3589-3591)Gtg>Atg		Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.							124	119	121					7																	150773217		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773217G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	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		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3589G>A	7.37:g.150773217G>A	ENSP00000419412:p.Val1197Met		Somatic				SLC4A2_uc003wit.4_Missense_Mutation_p.V1197M|SLC4A2_uc011kve.2_Missense_Mutation_p.V1188M|SLC4A2_uc003wiu.4_Missense_Mutation_p.V1183M|AK296065_uc011kvf.2_Silent_p.H76H	p.V1197M	NM_001199692	NP_001186621	WXS	Illumina GAIIx	Phase_I	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	21	4629	+			1197			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3589G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980505	0.74474	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.5	4.61	0.57282	.	0.088825	0.47852	D	0.000214	D	0.83903	0.5355	M	0.86343	2.81	0.58432	D	0.99999	P;D;D	0.60160	0.847;0.987;0.977	P;P;P	0.56163	0.73;0.793;0.626	D	0.86550	0.1834	10	0.72032	D	0.01	.	12.4779	0.55825	0.0811:0.0:0.9189:0.0	.	1188;1183;1197	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	M	1197;1197;1115;1188;1183	ENSP00000419412:V1197M;ENSP00000405600:V1197M;ENSP00000311402:V1115M;ENSP00000376571:V1188M;ENSP00000419164:V1183M	ENSP00000311402:V1115M	V	+	1	0	SLC4A2	150404150	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.839000	0.62810	2.594000	0.87642	0.655000	0.94253	GTG		0.637	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		4	318	0	0	0	1	0	4	318					A	150773217	G	A	150773217	3	1	198	1	0	0	0	0	1	0	0	0	14654	1029	36	2	3671	2	SLC4A2	7	150773217	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	10320081	150773217	8365446	11	3546											
LGI3	203190	broad.mit.edu	37	8	22009364	22009364	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr8:22009364T>C	ENST00000306317.2	-	6	933	c.644A>G	c.(643-645)gAg>gGg	p.E215G	LGI3_ENST00000424267.2_Missense_Mutation_p.E191G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	215	LRRCT.				exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCAATCGAACTCCCGCAGCGG	0.647																																						uc003xav.3																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(643-645)gAg>gGg		Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.							68	69	69					8																	22009364		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22009364T>C	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.644A>G	8.37:g.22009364T>C	ENSP00000302297:p.Glu215Gly		Somatic				LGI3_uc010ltu.3_Missense_Mutation_p.E191G	p.E215G	NM_139278	NP_644807	WXS	Illumina GAIIx	Phase_I	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	5	933	-			215			LRRCT.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.644A>G	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174564	0.57692	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;T;T	0.69306	-0.13;-0.39;0.13	4.85	4.85	0.62838	Cysteine-rich flanking region, C-terminal (1);	0.189210	0.44902	D	0.000401	T	0.57066	0.2028	L	0.54908	1.71	0.46222	D	0.998939	P;P	0.42409	0.779;0.462	B;B	0.32393	0.145;0.084	T	0.64495	-0.6394	10	0.66056	D	0.02	-20.3035	12.3904	0.55355	0.0:0.0:0.0:1.0	.	191;215	A5PLP2;Q8N145	.;LGI3_HUMAN	G	215;191;176	ENSP00000302297:E215G;ENSP00000399121:E191G;ENSP00000427817:E176G	ENSP00000302297:E215G	E	-	2	0	LGI3	22065309	1.000000	0.71417	0.999000	0.59377	0.602000	0.36980	6.204000	0.72143	1.808000	0.52836	0.379000	0.24179	GAG		0.647	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			52	133	0	0	0	1	0	52	133					C	22009364	T	C	22009364	3	2	198	1	0	0	0	0	1	0	0	0	8753	1551	54	3	1014	3	LGI3	8	22009364	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		22009364	124354658	12	3547											
DTX1	1840	broad.mit.edu	37	12	113532726	113532726	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113532726G>C	ENST00000257600.3	+	6	1863	c.1360G>C	c.(1360-1362)Gtg>Ctg	p.V454L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	454					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTGTGCCTCGTGGCCATGTA	0.657																																						uc001tuk.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1360-1362)Gtg>Ctg		Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.							51	42	45					12																	113532726		2203	4300	6503	SO:0001583	missense	1840				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532726G>C	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1360G>C	12.37:g.113532726G>C	ENSP00000257600:p.Val454Leu		Somatic					p.V454L	NM_004416	NP_004407	WXS	Illumina GAIIx	Phase_I	Q86Y01	DTX1_HUMAN			5	1696	+			454					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1360G>C	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252388	0.10185	.	.	ENSG00000135144	ENST00000257600	T	0.39592	1.07	4.14	4.14	0.48551	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.141030	0.46758	D	0.000270	T	0.24547	0.0595	N	0.16166	0.38	0.39199	D	0.963117	B	0.16802	0.019	B	0.24155	0.051	T	0.10613	-1.0622	10	0.02654	T	1	-12.4377	15.2059	0.73177	0.0:0.0:1.0:0.0	.	454	Q86Y01	DTX1_HUMAN	L	454	ENSP00000257600:V454L	ENSP00000257600:V454L	V	+	1	0	DTX1	112017109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.147000	0.50639	1.852000	0.53769	0.456000	0.33151	GTG		0.657	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			49	94	0	0	0	1	0	49	94					C	113532726	G	C	113532726	3	2	198	1	0	0	0	0	1	0	0	0	4793	1145	40	4	1382	4	DTX1	12	113532726	Missense_Mutation	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08		113532726	20319169	13	3548											
RASAL1	8437	broad.mit.edu	37	12	113541981	113541981	+	Silent	SNP	G	G	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113541981G>A	ENST00000261729.5	-	18	2265	c.1950C>T	c.(1948-1950)acC>acT	p.T650T	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.T651T|RASAL1_ENST00000446861.3_Silent_p.T622T|RASAL1_ENST00000546530.1_Silent_p.T652T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	650	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACTGGAGGTAGGTGGTGTGCA	0.697																																						uc001tun.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1954-1956)acC>acT		Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.							30	28	29					12																	113541981		2203	4298	6501	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding	g.chr12:113541981G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1950C>T	12.37:g.113541981G>A			Somatic				RASAL1_uc010syp.2_Silent_p.T651T|RASAL1_uc001tul.3_Silent_p.T622T|RASAL1_uc001tum.2_Silent_p.T650T|RASAL1_uc010syq.2_Silent_p.T651T|RASAL1_uc001tuo.4_Silent_p.T651T	p.T652T	NM_001193520	NP_001180449	WXS	Illumina GAIIx	Phase_I	O95294	RASL1_HUMAN			17	2257	-			650			PH.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.1956C>T	CCDS9165.1																																																																																				0.697	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		8	33	0	0	0	1	0	8	33					A	113541981	G	A	113541981	2	1	198	1	0	0	0	0	0	0	0	1	13063	987	35	2		2	RASAL1	12	113541981	Silent	SNP	G	TCGA-EL-A3N3-01A-11D-A20C-08	9255	113541981	20309914	14	3549											
TRIM28	10155	broad.mit.edu	37	19	59056853	59056853	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr19:59056853C>A	ENST00000253024.5	+	2	691	c.402C>A	c.(400-402)ttC>ttA	p.F134L	RN7SL525P_ENST00000579267.1_RNA|TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	134	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGAATTATTTCATGCGTGATA	0.552																																						uc002qtg.1																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(400-402)ttC>ttA		Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.							91	98	96					19																	59056853		2203	4299	6502	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59056853C>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.402C>A	19.37:g.59056853C>A	ENSP00000253024:p.Phe134Leu		Somatic				TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	p.F134L	NM_005762	NP_005753	WXS	Illumina GAIIx	Phase_I	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	1	691	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	134			RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.402C>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158697	0.78226	.	.	ENSG00000130726	ENST00000253024	T	0.66099	-0.19	4.36	-4.31	0.03698	.	0.000000	0.51477	D	0.000086	T	0.57519	0.2059	N	0.20986	0.625	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.60845	-0.7182	10	0.87932	D	0	-13.804	13.3061	0.60352	0.0:0.7558:0.0:0.2442	.	134	Q13263	TIF1B_HUMAN	L	134	ENSP00000253024:F134L	ENSP00000253024:F134L	F	+	3	2	TRIM28	63748665	0.025000	0.19082	0.608000	0.28969	0.945000	0.59286	-1.557000	0.02166	-0.800000	0.04433	-0.389000	0.06534	TTC		0.552	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		4	216	0	0	0	1	0	4	216					A	59056853	C	A	59056853	3	1	198	1	0	0	0	0	1	0	0	0	16499	825	29	4	408	4	TRIM28	19	59056853	Missense_Mutation	SNP	C	TCGA-EL-A3N3-01A-11D-A20C-08		59056853	72130	15	3550											
CLTCL1	8218	broad.mit.edu	37	22	19195776	19195776	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr22:19195776T>C	ENST00000263200.10	-	22	3560	c.3488A>G	c.(3487-3489)aAg>aGg	p.K1163R	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.K1163R|CLTCL1_ENST00000353891.5_Missense_Mutation_p.K1163R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1163	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCACGGCCCTTTTTCCTGGC	0.403			T	?	ALCL																																	uc021wle.1				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3487-3489)aAg>aGg		Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.							89	89	89					22																	19195776		1834	4086	5920	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19195776T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3488A>G	22.37:g.19195776T>C	ENSP00000445677:p.Lys1163Arg		Somatic				CLTCL1_uc021wld.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlc.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlf.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agw.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.K123R	p.K1163R	NM_007098	NP_009029	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			21	3563	-	Colorectal(54;0.0993)		1163			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3488A>G	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.612046	0.46631	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21734	1.99;1.99;1.99	4.03	0.206	0.15208	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.344242	0.29314	N	0.012505	T	0.23649	0.0572	M	0.82056	2.57	0.48632	D	0.999685	B;B	0.17268	0.007;0.021	B;B	0.32583	0.132;0.148	T	0.04885	-1.0920	10	0.37606	T	0.19	-5.8071	2.5169	0.04670	0.1819:0.0813:0.137:0.5998	.	1163;1163	P53675-2;P53675	.;CLH2_HUMAN	R	1163	ENSP00000439662:K1163R;ENSP00000445677:K1163R;ENSP00000441158:K1163R	ENSP00000445677:K1163R	K	-	2	0	CLTCL1	17575776	1.000000	0.71417	0.080000	0.20451	0.982000	0.71751	4.242000	0.58714	-0.273000	0.09246	0.528000	0.53228	AAG		0.403	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	90	0	0	0	1	0	3	90					C	19195776	T	C	19195776	3	2	198	1	0	0	0	0	1	0	0	0	3567	1609	56	3	1478	3	CLTCL1	22	19195776	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		19195776	32108790	16	3551											
MAGEE2	139599	broad.mit.edu	37	X	75004811	75004811	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:75004811T>C	ENST00000373359.2	-	1	268	c.76A>G	c.(76-78)Ata>Gta	p.I26V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	26										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAGCTTGTATTTCACCTCTG	0.572																																						uc004ecj.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(76-78)Ata>Gta		Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.							41	32	35					X																	75004811		2202	4300	6502	SO:0001583	missense	139599							g.chrX:75004811T>C	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.76A>G	X.37:g.75004811T>C	ENSP00000362457:p.Ile26Val		Somatic					p.I26V	NM_138703	NP_619648	WXS	Illumina GAIIx	Phase_I	Q8TD90	MAGE2_HUMAN			0	269	-			26					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.76A>G	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	9.523	1.108753	0.20714	.	.	ENSG00000186675	ENST00000373359	T	0.03441	3.93	2.86	1.7	0.24286	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48833	-0.9000	9	0.23302	T	0.38	.	4.1157	0.10081	0.0:0.1691:0.0:0.8309	.	26	Q8TD90	MAGE2_HUMAN	V	26	ENSP00000362457:I26V	ENSP00000362457:I26V	I	-	1	0	MAGEE2	74921536	0.886000	0.30341	0.088000	0.20740	0.049000	0.14656	0.414000	0.21164	0.391000	0.25143	0.412000	0.27726	ATA		0.572	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		19	65	0	0	0	1	0	19	65					C	75004811	T	C	75004811	3	2	198	1	0	0	0	0	1	0	0	0	9186	1493	52	3	1499	3	MAGEE2	23	75004811	Missense_Mutation	SNP	T	TCGA-EL-A3N3-01A-11D-A20C-08		75004811	80265749	17	3552											
LCK	3932	broad.mit.edu	37	1	32739980	32739980	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:32739980T>C	ENST00000336890.5	+	2	188	c.50T>C	c.(49-51)aTc>aCc	p.I17T	LCK_ENST00000333070.4_Missense_Mutation_p.I17T|LCK_ENST00000373564.3_Missense_Mutation_p.I17T	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	17	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ATGGAAAACATCGATGTGTGT	0.577			T	TRB@	T-ALL																																	uc001buz.3				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(49-51)aTc>aCc		Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	Dasatinib(DB01254)						116	101	106					1																	32739980		2203	4300	6503	SO:0001583	missense	3932				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity	g.chr1:32739980T>C	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.50T>C	1.37:g.32739980T>C	ENSP00000337825:p.Ile17Thr		Somatic				LCK_uc001bux.3_Missense_Mutation_p.I17T|LCK_uc001buy.3_Missense_Mutation_p.I17T|LCK_uc010ohc.1_Missense_Mutation_p.I61T|LCK_uc001bva.3_Missense_Mutation_p.I17T	p.I17T	NM_005356	NP_005347	WXS	Illumina GAIIx	Phase_I	P06239	LCK_HUMAN			1	171	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	17			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.50T>C	CCDS359.1	.	.	.	.	.	.	.	.	.	.	t	9.269	1.045145	0.19748	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.03	5.03	0.67393	.	0.201710	0.33572	N	0.004776	T	0.45915	0.1366	L	0.50333	1.59	0.33410	D	0.578493	B;B;B;B	0.32693	0.323;0.346;0.38;0.204	B;B;B;B	0.33454	0.079;0.052;0.164;0.035	T	0.55679	-0.8103	10	0.15952	T	0.53	.	13.9372	0.64032	0.0:0.0:0.0:1.0	.	61;17;17;17	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	T	17;17;17;17;17;61;61;17;61;17	ENSP00000337825:I17T;ENSP00000431517:I17T;ENSP00000435605:I17T;ENSP00000434525:I17T;ENSP00000362663:I17T;ENSP00000436554:I61T;ENSP00000362658:I61T;ENSP00000328213:I17T;ENSP00000362665:I17T	ENSP00000328213:I17T	I	+	2	0	LCK	32512567	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	5.969000	0.70422	2.037000	0.60232	0.399000	0.26434	ATC		0.577	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		4	215	0	0	0	1	0	4	215					C	32739980	T	C	32739980	3	2	199	1	0	0	0	0	1	0	0	0	8676	1435	50	3	52	3	LCK	1	32739980	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		32739980	216510641	1	3553											
IL12RB2	3595	broad.mit.edu	37	1	67833673	67833673	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr1:67833673G>A	ENST00000262345.1	+	10	2064	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	IL12RB2_ENST00000541374.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R475Q|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R475Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	475	Fibronectin type-III 4. {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						AACTGGCTACGGAGTCGACCC	0.507																																						uc001ddu.3																			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.(1423-1425)cGg>cAg		Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.							152	134	140					1																	67833673		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.chr1:67833673G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1424G>A	1.37:g.67833673G>A	ENSP00000262345:p.Arg475Gln		Somatic				IL12RB2_uc010oqi.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqj.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqm.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqn.2_Non-coding_Transcript	p.R475Q	NM_001559	NP_001550	WXS	Illumina GAIIx	Phase_I	Q99665	I12R2_HUMAN			9	2064	+			475			Fibronectin type-III 4.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1424G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289070	0.59976	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.56941	0.43;0.43;0.43;1.71	5.02	5.02	0.67125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.298342	0.35525	N	0.003153	T	0.61009	0.2313	M	0.71206	2.165	0.30282	N	0.791213	D;D;D;D	0.89917	0.984;1.0;1.0;1.0	P;D;D;D	0.69824	0.788;0.963;0.966;0.934	T	0.58629	-0.7603	10	0.48119	T	0.1	-8.8914	13.709	0.62656	0.0:0.0:1.0:0.0	.	475;475;475;475	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	Q	475	ENSP00000262345:R475Q;ENSP00000360039:R475Q;ENSP00000445276:R475Q;ENSP00000442443:R475Q	ENSP00000262345:R475Q	R	+	2	0	IL12RB2	67606261	0.880000	0.30214	0.472000	0.27241	0.162000	0.22319	2.984000	0.49353	2.607000	0.88179	0.655000	0.94253	CGG		0.507	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		19	103	0	0	0	1	0	19	103					A	67833673	G	A	67833673	3	1	199	1	0	0	0	0	1	0	0	0	7627	1116	39	1	1458	1	IL12RB2	1	67833673	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	35093693	67833673	181416948	2	3554											
LBH	81606	broad.mit.edu	37	2	30457303	30457303	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:30457303A>G	ENST00000395323.3	+	2	267	c.59A>G	c.(58-60)gAg>gGg	p.E20G	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Missense_Mutation_p.E20G|LBH_ENST00000401506.1_Missense_Mutation_p.E26G|LBH_ENST00000407930.2_Missense_Mutation_p.E3G|LBH_ENST00000406087.1_Missense_Mutation_p.E20G	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	20					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AAGATGACTGAGGTGATGATG	0.537																																						uc002rne.2																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(58-60)gAg>gGg		Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.							146	122	130					2																	30457303		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30457303A>G	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.59A>G	2.37:g.30457303A>G	ENSP00000378733:p.Glu20Gly		Somatic					p.E20G	NM_030915	NP_112177	WXS	Illumina GAIIx	Phase_I	Q53QV2	LBH_HUMAN			1	267	+	Acute lymphoblastic leukemia(172;0.155)		20					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.59A>G	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.042058	0.75732	.	.	ENSG00000213626	ENST00000395323;ENST00000406087;ENST00000404397;ENST00000401506;ENST00000407930	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.66939	2.045	0.50171	D	0.999854	D	0.63880	0.993	D	0.63033	0.91	T	0.73833	-0.3858	9	0.87932	D	0	-20.5435	11.7103	0.51620	1.0:0.0:0.0:0.0	.	20	Q53QV2	LBH_HUMAN	G	20;20;20;26;3	.	ENSP00000378733:E20G	E	+	2	0	LBH	30310807	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.723000	0.74742	1.649000	0.50652	0.374000	0.22700	GAG		0.537	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		3	164	0	0	0	1	0	3	164					G	30457303	A	G	30457303	3	3	199	1	0	0	0	0	1	0	0	0	8650	304	11	3	65	3	LBH	2	30457303	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08		30457303	212742070	3	3555											
NLRC4	58484	broad.mit.edu	37	2	32475708	32475708	+	Nonsense_Mutation	SNP	C	C	A	rs144123569		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr2:32475708C>A	ENST00000404025.2	-	5	1713	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E409*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E409*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.E409K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCAGTTCGAAATCAAAC	0.473																																						uc002roi.3																			2	Substitution - Missense(2)	p.E409K(2)	large_intestine(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1225-1227)Gaa>Taa		Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.							55	57	57					2																	32475708		2203	4300	6503	SO:0001587	stop_gained	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475708C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1225G>T	2.37:g.32475708C>A	ENSP00000385090:p.Glu409*		Somatic				NLRC4_uc021vfq.1_Nonsense_Mutation_p.E409*|NLRC4_uc002roj.2_Nonsense_Mutation_p.E409*|NLRC4_uc010ezt.2_Intron	p.E409*	NM_001199138	NP_001186067	WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			3	1486	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		409			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.1225G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519843	0.44866	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	2.97	-1.66	0.08265	.	1.102920	0.07138	N	0.846839	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.1007	0.20045	0.0:0.3531:0.3734:0.2735	.	.	.	.	X	409	.	ENSP00000354159:E409X	E	-	1	0	NLRC4	32329212	0.030000	0.19436	0.003000	0.11579	0.006000	0.05464	-0.681000	0.05191	-0.970000	0.03569	-2.441000	0.00211	GAA		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		3	37	0	0	0	1	0	3	37					A	32475708	C	A	32475708	4	1	199	1	0	0	0	0	0	1	0	0	10469	893	31	4	1873	4	NLRC4	2	32475708	Nonsense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	2018405	32475708	210723665	4	3556											
EIF2B5	8893	broad.mit.edu	37	3	183856019	183856019	+	Silent	SNP	C	C	T			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	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																																						uc003fmp.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(748-750)agC>agT		Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.							161	147	152					3																	183856019		2203	4300	6503	SO:0001819	synonymous_variant	8893				RNA metabolic process|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	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	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.750C>T	3.37:g.183856019C>T			Somatic				EIF2B5_uc003fmq.3_5'UTR	p.S250S	NM_003907	NP_003898	WXS	Illumina GAIIx	Phase_I	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	1114	+	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			9	96	0	0	0	1	0	9	96					T	183856019	C	T	183856019	2	4	199	1	0	0	0	0	0	0	0	1	5004	709	25	2		2	EIF2B5	3	183856019	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		183856019	14166411	5	3557											
MOG	4340	broad.mit.edu	37	6	29627259	29627259	+	Silent	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:29627259G>A	ENST00000376917.3	+	2	481	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MOG_ENST00000376898.3_Silent_p.K84K|MOG_ENST00000376894.4_Silent_p.K84K|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.K84K|MOG_ENST00000396701.2_Silent_p.K84K|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000483013.1_Intron|MOG_ENST00000396704.3_Silent_p.K84K|MOG_ENST00000416766.2_Silent_p.K84K|MOG_ENST00000494692.1_Silent_p.K84K|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Silent_p.K84K|MOG_ENST00000376902.3_Silent_p.K84K|MOG_ENST00000431798.2_Silent_p.K84K	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	84	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GAAATGGCAAGGACCAAGATG	0.547																																						uc003nmy.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(250-252)aaG>aaA		Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.							115	114	114					6																	29627259		1511	2709	4220	SO:0001819	synonymous_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627259G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.252G>A	6.37:g.29627259G>A			Somatic				MOG_uc003qzk.2_Silent_p.K84K|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Silent_p.K14K|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Silent_p.K84K|MOG_uc003nnf.3_Silent_p.K84K|MOG_uc003nng.3_Silent_p.K84K|MOG_uc003nni.3_Silent_p.K84K|MOG_uc003nnh.3_Silent_p.K84K|MOG_uc003nnj.3_Silent_p.K84K|MOG_uc003nnk.3_Silent_p.K84K	p.K84K	NM_206809	NP_996532	WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			1	481	+			84			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.252G>A	CCDS34370.1																																																																																				0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		3	139	0	0	0	1	0	3	139					A	29627259	G	A	29627259	2	1	199	1	0	0	0	0	0	0	0	1	9693	991	35	2		2	MOG	6	29627259	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		29627259	141487808	6	3558											
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Silent	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.F61F(2)|p.F61L(2)	lung(1)|endometrium(1)	breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(181-183)ttC>ttT		Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.							184	173	177					6																	76751728		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751728G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.183C>T	6.37:g.76751728G>A			Somatic					p.F61F	NM_001563	NP_001554	WXS	Illumina GAIIx	Phase_I	Q17R60	IMPG1_HUMAN			1	313	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	61						Silent	SNP	ENST00000369950.3	37	c.183C>T	CCDS4985.1																																																																																				0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		20	134	0	0	0	1	0	20	134					A	76751728	G	A	76751728	2	1	199	1	0	0	0	0	0	0	0	1	7728	1049	37	1		1	IMPG1	6	76751728	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	47124469	76751728	94363339	7	3559											
VTA1	51534	broad.mit.edu	37	6	142468447	142468447	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr6:142468447C>A	ENST00000367630.4	+	1	81	c.23C>A	c.(22-24)cCc>cAc	p.P8H	VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	8	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GCACCGCTGCCCCCGCTCCCC	0.612											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qiw.3																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(22-24)cCc>cAc		Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.							78	72	74					6																	142468447		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142468447C>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.23C>A	6.37:g.142468447C>A	ENSP00000356602:p.Pro8His		Somatic	OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1671	VTA1_uc011edu.2_5'UTR	p.P8H	NM_016485	NP_057569	WXS	Illumina GAIIx	Phase_I	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	0	38	+	Breast(32;0.155)		8			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.23C>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859472	0.51376	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.53423	0.62	5.78	5.78	0.91487	.	0.106321	0.64402	D	0.000004	T	0.64505	0.2604	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66838	-0.5822	10	0.72032	D	0.01	-11.0547	16.9276	0.86180	0.0:1.0:0.0:0.0	.	8	Q9NP79	VTA1_HUMAN	H	8;9	ENSP00000356602:P8H	ENSP00000356602:P8H	P	+	2	0	VTA1	142510140	0.997000	0.39634	0.999000	0.59377	0.366000	0.29705	4.660000	0.61511	2.738000	0.93877	0.591000	0.81541	CCC		0.612	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		4	88	0	0	0	1	0	4	88					A	142468447	C	A	142468447	3	1	199	1	0	0	0	0	1	0	0	0	17230	623	22	4	25	4	VTA1	6	142468447	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	65716719	142468447	28646620	8	3560											
KIAA1529	100499483	broad.mit.edu	37	9	100092841	100092841	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr9:100092841C>G	ENST00000357054.1	+	32	3550	c.2615C>G	c.(2614-2616)tCt>tGt	p.S872C	CCDC180_ENST00000411667.2_Missense_Mutation_p.S730C|CCDC180_ENST00000529487.1_Missense_Mutation_p.S733C|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.S733C|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	872	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AAAGAAGGCTCTATTCAGGGA	0.463																																						uc011lut.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						c.(2614-2616)tCt>tGt		Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.							71	68	69					9																	100092841		2203	4300	6503	SO:0001583	missense	100499483					integral to membrane		g.chr9:100092841C>G	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2615C>G	9.37:g.100092841C>G	ENSP00000349562:p.Ser872Cys		Somatic				C9orf174_uc004axe.2_Missense_Mutation_p.S872C|C9orf174_uc011lus.2_Missense_Mutation_p.S690C|C9orf174_uc004axg.2_Missense_Mutation_p.S733C|C9orf174_uc004axh.2_Non-coding_Transcript|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.S733C|C9orf174_uc011luv.1_Missense_Mutation_p.S730C	p.S872C	NM_020893	NP_065944	WXS	Illumina GAIIx	Phase_I	Q9P1Z9	CI174_HUMAN			31	3621	+			872			Glu-rich.		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.2615C>G		.	.	.	.	.	.	.	.	.	.	C	18.06	3.539798	0.65085	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.14144	2.88;2.92;2.53;2.92	5.08	5.08	0.68730	.	0.569160	0.16108	N	0.229225	T	0.32615	0.0835	L	0.56769	1.78	0.09310	N	0.999997	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.72075	0.967;0.976;0.943;0.976;0.967	T	0.05649	-1.0872	10	0.34782	T	0.22	-2.1053	14.7046	0.69179	0.0:1.0:0.0:0.0	.	756;730;872;733;872	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	C	872;733;730;756;733	ENSP00000349562:S872C;ENSP00000364348:S733C;ENSP00000414000:S730C;ENSP00000434727:S733C	ENSP00000349562:S872C	S	+	2	0	C9orf174	99132662	0.000000	0.05858	0.079000	0.20413	0.781000	0.44180	0.305000	0.19254	2.751000	0.94390	0.555000	0.69702	TCT		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		13	27	0	0	0	1	0	13	27					G	100092841	C	G	100092841	3	3	199	1	0	0	0	0	1	0	0	0	8240	913	32	4	2697	4	KIAA1529	9	100092841	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		100092841	41120590	9	3561											
ANKRD30A	91074	broad.mit.edu	37	10	37414918	37414918	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr10:37414918T>C	ENST00000602533.1	+	1	134	c.35T>C	c.(34-36)aTa>aCa	p.I12T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I12T|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I12T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	68					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACCTTAATATACAAGACGCC	0.592																																						uc021ppc.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(34-36)aTa>aCa		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.							63	63	63					10																	37414918		1867	4102	5969	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37414918T>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.35T>C	10.37:g.37414918T>C	ENSP00000473551:p.Ile12Thr		Somatic				ANKRD30A_uc001iza.1_Missense_Mutation_p.I12T	p.I12T	NM_052997	NP_443723	WXS	Illumina GAIIx	Phase_I	Q9BXX3	AN30A_HUMAN			0	134	+			68					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.35T>C		.	.	.	.	.	.	.	.	.	.	.	0.159	-1.083624	0.01888	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.71579	-0.58;-0.58	0.682	-1.36	0.09085	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.48677	0.1513	N	0.16656	0.425	0.09310	N	1	B	0.23650	0.089	B	0.30782	0.12	T	0.28870	-1.0030	9	0.32370	T	0.25	.	1.7412	0.02952	0.4007:0.2987:0.0:0.3007	.	68	Q9BXX3	AN30A_HUMAN	T	12	ENSP00000354432:I12T;ENSP00000363792:I12T	ENSP00000354432:I12T	I	+	2	0	ANKRD30A	37454924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.143000	0.10296	-1.695000	0.01423	-0.860000	0.03012	ATA		0.592	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	39	0	0	0	1	0	3	39					C	37414918	T	C	37414918	3	2	199	1	0	0	0	0	1	0	0	0	658	1406	49	3	37	3	ANKRD30A	10	37414918	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		37414918	98119829	10	3562											
PTPRJ	5795	broad.mit.edu	37	11	48146708	48146708	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:48146708G>C	ENST00000418331.2	+	6	1415	c.1063G>C	c.(1063-1065)Gga>Cga	p.G355R	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G355R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	355	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|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 platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGCACAGAAGGACAGCCCCA	0.532																																						uc001ngp.4																			0		p.E354*(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1063-1065)Gga>Cga		Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.							77	85	82					11																	48146708		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48146708G>C	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1063G>C	11.37:g.48146708G>C	ENSP00000400010:p.Gly355Arg		Somatic				PTPRJ_uc001ngo.4_Missense_Mutation_p.G355R	p.G355R	NM_002843	NP_002834	WXS	Illumina GAIIx	Phase_I	Q12913	PTPRJ_HUMAN			5	1418	+			355			Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1063G>C	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297048	0.60086	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.06449	3.3;3.3	5.38	4.48	0.54585	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19167	0.0460	L	0.59436	1.845	0.38401	D	0.945676	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01081	-1.1458	9	0.72032	D	0.01	.	10.0445	0.42177	0.0925:0.0:0.9075:0.0	.	355;355	Q12913;Q6P4H4	PTPRJ_HUMAN;.	R	355	ENSP00000400010:G355R;ENSP00000409733:G355R	ENSP00000278456:G355R	G	+	1	0	PTPRJ	48103284	1.000000	0.71417	0.132000	0.22025	0.003000	0.03518	4.489000	0.60309	1.271000	0.44313	-0.251000	0.11542	GGA		0.532	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			14	79	0	0	0	1	0	14	79					C	48146708	G	C	48146708	3	2	199	1	0	0	0	0	1	0	0	0	12804	1001	35	4	1085	4	PTPRJ	11	48146708	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		48146708	86859808	11	3563											
TM7SF2	7108	broad.mit.edu	37	11	64879505	64879506	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:64879505_64879506delCC	ENST00000279263.7	+	1	180_181	c.18_19delCC	c.(16-21)ggccccfs	p.P7fs	TM7SF2_ENST00000540748.1_5'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Frame_Shift_Del_p.P7fs	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	7					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCACTCAGGGCCCCCGGGCCCC	0.639																																						uc001oct.3																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(16-21)ggccccfs		Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.																																				SO:0001589	frameshift_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64879505_64879506delCC	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"delta(14)-sterol reductase"	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.18_19delCC	11.37:g.64879507_64879508delCC	ENSP00000279263:p.Pro7fs		Somatic				TM7SF2_uc010rny.2_5'UTR|TM7SF2_uc001ocu.3_Frame_Shift_Del_p.G6fs|TM7SF2_uc001ocv.3_5'UTR	p.G6fs	NM_003273	NP_003264	WXS	Illumina GAIIx	Phase_I	O76062	ERG24_HUMAN			0	165_166	+			6					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Frame_Shift_Del	DEL	ENST00000279263.7	37	c.18_19delCC	CCDS41669.1																																																																																				0.639	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		6	12						6	12	---	---	---	---	-	64879506	CC	-	64879505	7	5	199	1	0	1	0	1	0	0	0	0	15971	726	26	0	20	0	TM7SF2	11	64879505	Frame_Shift_Del	DEL	CC	TCGA-EL-A3T0-01A-22D-A22D-08	16732797	64879505	70127011	12	3564											
MYO7A	4647	broad.mit.edu	37	11	76867737	76867737	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr11:76867737A>G	ENST00000409709.3	+	6	774	c.502A>G	c.(502-504)Aca>Gca	p.T168A	MYO7A_ENST00000458637.2_Missense_Mutation_p.T168A|MYO7A_ENST00000409893.1_Missense_Mutation_p.T168A|MYO7A_ENST00000409619.2_Missense_Mutation_p.T157A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	168	Myosin motor.				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						GACGGAGAGCACAAAGCTGAT	0.617																																						uc001oyb.2																			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.(502-504)Aca>Gca		Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.							73	84	80					11																	76867737		2119	4219	6338	SO:0001583	missense	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	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr11:76867737A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.502A>G	11.37:g.76867737A>G	ENSP00000386331:p.Thr168Ala		Somatic				MYO7A_uc010rsl.2_Missense_Mutation_p.T168A|MYO7A_uc010rsm.1_Missense_Mutation_p.T157A|MYO7A_uc001oyc.2_Missense_Mutation_p.T168A	p.T168A	NM_000260	NP_000251	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			5	774	+			168			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.502A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	a	24.5	4.535280	0.85812	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.95	4.95	0.65309	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	L	0.35288	1.05	0.80722	D	1	P;D;D	0.89917	0.938;0.991;1.0	P;P;D	0.91635	0.823;0.873;0.999	D	0.88896	0.3349	10	0.38643	T	0.18	.	14.7906	0.69841	1.0:0.0:0.0:0.0	.	168;168;168	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	A	168;168;168;157;167;167;167;167	ENSP00000386331:T168A;ENSP00000386689:T168A;ENSP00000392185:T168A;ENSP00000386635:T157A	ENSP00000345075:T167A	T	+	1	0	MYO7A	76545385	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	6.182000	0.71995	2.065000	0.61736	0.529000	0.55759	ACA		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	184	0	0	0	1	0	7	184					G	76867737	A	G	76867737	3	3	199	1	0	0	0	0	1	0	0	0	10082	159	6	3	520	3	MYO7A	11	76867737	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	11988232	76867737	58138779	13	3565											
C12orf44	60673	broad.mit.edu	37	12	52470924	52470924	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr12:52470924T>C	ENST00000336854.4	+	4	1085	c.607T>C	c.(607-609)Tca>Cca	p.S203P	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		203					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CCTGGGCACCTCAGTCACCAC	0.577																																						uc001rzu.4																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(607-609)Tca>Cca		Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.							90	85	87					12																	52470924		2203	4300	6503	SO:0001583	missense	60673				autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding	g.chr12:52470924T>C																												ENST00000336854.4:c.607T>C	12.37:g.52470924T>C	ENSP00000338990:p.Ser203Pro		Somatic				C12orf44_uc009zmd.3_Missense_Mutation_p.S203P|bpl_41-16_uc009zme.2_5'Flank	p.S203P	NM_021934	NP_068753	WXS	Illumina GAIIx	Phase_I	Q9BSB4	ATGA1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0978)	3	1082	+			203					Q9HAE2|Q9HBN1	Missense_Mutation	SNP	ENST00000336854.4	37	c.607T>C	CCDS8820.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723151	0.89298	.	.	ENSG00000123395	ENST00000336854;ENST00000550984	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	L	0.52011	1.625	0.80722	D	1	D	0.69078	0.997	P	0.57101	0.813	T	0.68089	-0.5501	9	0.59425	D	0.04	-12.5173	13.7571	0.62943	0.0:0.0:0.0:1.0	.	203	Q9BSB4	ATGA1_HUMAN	P	203	.	ENSP00000338990:S203P	S	+	1	0	C12orf44	50757191	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	7.401000	0.79962	2.145000	0.66743	0.533000	0.62120	TCA		0.577	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			3	99	0	0	0	1	0	3	99					C	52470924	T	C	52470924	3	2	199	1	0	0	0	0	1	0	0	0	1690	1551	54	3	613	3	C12orf44	12	52470924	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		52470924	81380971	14	3566											
TMTC4	84899	broad.mit.edu	37	13	101278051	101278051	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr13:101278051G>A	ENST00000376234.3	-	13	1814	c.1625C>T	c.(1624-1626)gCt>gTt	p.A542V	TMTC4_ENST00000342624.5_Missense_Mutation_p.A561V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.A431V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	542						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATTTGAACAGCCAAAGACAG	0.368																																						uc001vot.3																			0		p.A561S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1681-1683)gCt>gTt		Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.							64	68	67					13																	101278051		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101278051G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1625C>T	13.37:g.101278051G>A	ENSP00000365408:p.Ala542Val		Somatic				TMTC4_uc001vou.3_Missense_Mutation_p.A542V|TMTC4_uc010tja.2_Missense_Mutation_p.A431V|TMTC4_uc001vov.1_Missense_Mutation_p.A287V|TMTC4_uc001vow.1_Missense_Mutation_p.A325V	p.A561V	NM_032813	NP_001073137	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			13	1995	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		542					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1682C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885103	0.91814	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.72942	-0.7;-0.7;-0.7	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85557	0.5724	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;1.0	D;D;D;D	0.91635	0.98;0.967;0.999;0.99	D	0.85978	0.1481	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	431;542;542;561	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	V	542;561;431	ENSP00000365408:A542V;ENSP00000343871:A561V;ENSP00000365409:A431V	ENSP00000365409:A431V	A	-	2	0	TMTC4	100076052	1.000000	0.71417	0.997000	0.53966	0.605000	0.37080	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GCT		0.368	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		4	50	0	0	0	1	0	4	50					A	101278051	G	A	101278051	3	1	199	1	0	0	0	0	1	0	0	0	16260	971	34	2	624	2	TMTC4	13	101278051	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		101278051	13891827	15	3567											
PRPF39	55015	broad.mit.edu	37	14	45579424	45579424	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:45579424G>A	ENST00000355765.6	+	9	1473		c.e9+1		SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAACAGCAGGGTAAGAGTGGA	0.418																																						uc001wvz.4																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.e9+1		Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.							90	86	87					14																	45579424		2203	4300	6503	SO:0001630	splice_region_variant	55015				RNA splicing|mRNA processing	nucleus	binding	g.chr14:45579424G>A	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1303+1G>A	14.37:g.45579424G>A			Somatic				PRPF39_uc001wvy.4_Splice_Site_p.G314_splice|PRPF39_uc010and.3_Splice_Site_p.G225_splice|PRPF39_uc001wwa.1_Splice_Site_p.G39_splice|SNORD127_uc010ane.3_5'Flank	p.G435_splice	NM_017922	NP_060392	WXS	Illumina GAIIx	Phase_I	Q86UA1	PRP39_HUMAN			9	1473	+			435					Q08AL1|Q08AL2|Q9NUU5	Splice_Site	SNP	ENST00000355765.6	37	c.1303_splice	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540507	0.65085	.	.	ENSG00000185246	ENST00000355765	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0642	0.93103	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF39	44649174	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.607000	0.88179	0.563000	0.77884	.		0.418	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2		Intron	3	40	0	0	0	1	0	3	40					A	45579424	G	A	45579424	5	1	199	1	0	0	0	0	0	0	1	0	12569	1275	44	2	1334	2	PRPF39	14	45579424	Splice_Site	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		45579424	61770116	16	3568											
SYNE2	23224	broad.mit.edu	37	14	64599082	64599082	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr14:64599082G>A	ENST00000344113.4	+	77	14652	c.14440G>A	c.(14440-14442)Gaa>Aaa	p.E4814K	SYNE2_ENST00000555002.1_Missense_Mutation_p.E1448K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1199K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1199K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4731K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4814K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4814					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)			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)		ATTTTGGGCAGAACAAGTAAC	0.383																																						uc001xgl.3																			0				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.(14440-14442)Gaa>Aaa		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							85	89	88					14																	64599082		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64599082G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14440G>A	14.37:g.64599082G>A	ENSP00000341781:p.Glu4814Lys		Somatic				SYNE2_uc001xgm.3_Missense_Mutation_p.E4814K|SYNE2_uc021ruh.1_Missense_Mutation_p.E4731K|SYNE2_uc010apy.3_Missense_Mutation_p.E1199K|SYNE2_uc010apz.1_Missense_Mutation_p.E706K	p.E4814K	NM_182914	NP_878918	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	76	14670	+			4814					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.14440G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809246	0.50421	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59502	0.49;3.8;0.49;0.26;3.84;3.8	5.42	5.42	0.78866	.	0.118800	0.37348	N	0.002127	T	0.67458	0.2895	M	0.68952	2.095	0.80722	D	1	P;P;D	0.53745	0.837;0.895;0.962	P;P;P	0.51657	0.642;0.468;0.676	T	0.70952	-0.4732	10	0.66056	D	0.02	.	16.7248	0.85418	0.0:0.0:1.0:0.0	.	1199;4814;4814	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	K	4814;1199;4814;4731;4731;1448;1199	ENSP00000350719:E4814K;ENSP00000349969:E1199K;ENSP00000341781:E4814K;ENSP00000452570:E4731K;ENSP00000450831:E1448K;ENSP00000378249:E1199K	ENSP00000261678:E4731K	E	+	1	0	SYNE2	63668835	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.663000	0.68038	2.683000	0.91414	0.655000	0.94253	GAA		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		3	114	0	0	0	1	0	3	114					A	64599082	G	A	64599082	3	1	199	1	0	0	0	0	1	0	0	0	15443	943	33	2	14742	2	SYNE2	14	64599082	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	19019658	64599082	42750458	17	3569											
SPTBN5	51332	broad.mit.edu	37	15	42159282	42159282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr15:42159282delG	ENST00000320955.6	-	36	6582	c.6355delC	c.(6355-6357)cggfs	p.R2119fs	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2119					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCCGCACCCGGGGGCGCCGG	0.731																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(6250-6252)cggfs		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							3	4	4					15																	42159282		1644	3720	5364	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42159282delG	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6355delC	15.37:g.42159282delG	ENSP00000317790:p.Arg2119fs		Somatic				MIR4310_uc021sjo.1_5'Flank	p.R2084fs	NM_016642	NP_057726	WXS	Illumina GAIIx	Phase_I	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	35	6583	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2119						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.6250delC																																																																																					0.731	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		2	4						2	4	---	---	---	---	-	42159282	G	-	42159282	7	5	199	1	0	1	0	1	0	0	0	0	15121	1115	39	0	4801	0	SPTBN5	15	42159282	Frame_Shift_Del	DEL	G	TCGA-EL-A3T0-01A-22D-A22D-08		42159282	60372110	18	3570											
ABCA3	21	broad.mit.edu	37	16	2369769	2369769	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:2369769G>A	ENST00000301732.5	-	8	1386	c.686C>T	c.(685-687)gCc>gTc	p.A229V	ABCA3_ENST00000382381.3_Missense_Mutation_p.A229V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	229					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)	GCGTGTGGCGGCATCGGCATG	0.637																																						uc002cpy.1																			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.(685-687)gCc>gTc		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.							126	99	108					16																	2369769		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.chr16:2369769G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.686C>T	16.37:g.2369769G>A	ENSP00000301732:p.Ala229Val		Somatic				ABCA3_uc010bsk.1_Missense_Mutation_p.A229V|ABCA3_uc010bsl.1_Missense_Mutation_p.A229V	p.A229V	NM_001089	NP_001080	WXS	Illumina GAIIx	Phase_I	Q99758	ABCA3_HUMAN			7	1398	-		Ovarian(90;0.17)	229					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.686C>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	5.225	0.227069	0.09916	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90324	-2.65	5.18	3.19	0.36642	.	0.657737	0.16253	N	0.222636	T	0.81029	0.4738	N	0.13043	0.29	0.09310	N	0.999999	B;B;B	0.13594	0.008;0.004;0.008	B;B;B	0.16722	0.016;0.016;0.016	T	0.67098	-0.5756	10	0.28530	T	0.3	.	9.7576	0.40513	0.0:0.2882:0.5627:0.149	.	229;291;229	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	V	229;291	ENSP00000301732:A229V	ENSP00000301732:A229V	A	-	2	0	ABCA3	2309770	0.399000	0.25287	0.001000	0.08648	0.000000	0.00434	3.559000	0.53756	0.746000	0.32786	-0.175000	0.13238	GCC		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		3	144	0	0	0	1	0	3	144					A	2369769	G	A	2369769	3	1	199	1	0	0	0	0	1	0	0	0	33	1203	42	2	4532	2	ABCA3	16	2369769	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		2369769	87984984	19	3571											
CENPT	80152	broad.mit.edu	37	16	67862707	67862707	+	Silent	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr16:67862707A>G	ENST00000562787.1	-	14	1868	c.1320T>C	c.(1318-1320)caT>caC	p.H440H	CENPT_ENST00000219172.3_Silent_p.H440H|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Silent_p.H385H|CENPT_ENST00000440851.2_Silent_p.H440H	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	440					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCCTAGGGGGATGCCTGACCA	0.582																																						uc002eun.4																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1318-1320)caT>caC		Homo sapiens centromere protein T (CENPT), mRNA.							67	74	72					16																	67862707		1895	4109	6004	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67862707A>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1320T>C	16.37:g.67862707A>G			Somatic				CENPT_uc010vkc.2_Silent_p.H198H|CENPT_uc010vkd.1_Silent_p.H193H	p.H440H	NM_025082	NP_079358	WXS	Illumina GAIIx	Phase_I	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	13	1869	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	440					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1320T>C	CCDS42182.1																																																																																				0.582	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		3	138	0	0	0	1	0	3	138					G	67862707	A	G	67862707	2	3	199	1	0	0	0	0	0	0	0	1	3242	330	12	3		3	CENPT	16	67862707	Silent	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	65492938	67862707	22492046	20	3572											
ZNF426	79088	broad.mit.edu	37	19	9640216	9640216	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:9640216T>C	ENST00000535489.1	-	6	841	c.505A>G	c.(505-507)Agt>Ggt	p.S169G	ZNF426_ENST00000593003.1_Missense_Mutation_p.S131G|ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.S169G			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTCCCTGTACTTTGAGTTCTC	0.428																																						uc002mlq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(505-507)Agt>Ggt		Homo sapiens zinc finger protein 426 (ZNF426), mRNA.							124	109	114					19																	9640216		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9640216T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.505A>G	19.37:g.9640216T>C	ENSP00000439017:p.Ser169Gly		Somatic				ZNF426_uc010dws.3_Missense_Mutation_p.S131G	p.S169G	NM_024106	NP_077011	WXS	Illumina GAIIx	Phase_I	Q9BUY5	ZN426_HUMAN			7	769	-			169					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.505A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347587	0.24426	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.29655	1.56;1.56	1.56	0.518	0.17030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.27454	0.0674	L	0.52126	1.63	0.18873	N	0.999984	B;B	0.27498	0.067;0.18	B;B	0.33846	0.013;0.171	T	0.36237	-0.9756	9	0.66056	D	0.02	.	4.7789	0.13192	0.0:0.1902:0.0:0.8098	.	156;169	Q59EH4;Q9BUY5	.;ZN426_HUMAN	G	156;169;169	ENSP00000253115:S169G;ENSP00000439017:S169G	ENSP00000253115:S169G	S	-	1	0	ZNF426	9501216	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	0.432000	0.21461	0.099000	0.17552	0.383000	0.25322	AGT		0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		8	78	0	0	0	1	0	8	78					C	9640216	T	C	9640216	3	2	199	1	0	0	0	0	1	0	0	0	17897	1609	56	3	1163	3	ZNF426	19	9640216	Missense_Mutation	SNP	T	TCGA-EL-A3T0-01A-22D-A22D-08		9640216	49488767	21	3573											
ZNF791	163049	broad.mit.edu	37	19	12739914	12739914	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:12739914A>G	ENST00000343325.4	+	4	1733	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ZNF791_ENST00000540038.1_Missense_Mutation_p.Y415C|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.Y492C|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	524					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(5)|lung(6)|ovary(2)|prostate(3)	19						GAGAAACCCTATAAATGTAAA	0.388																																						uc002mua.2																			0		p.P523P(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(1570-1572)tAt>tGt		Homo sapiens zinc finger protein 791 (ZNF791), mRNA.							85	89	87					19																	12739914		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739914A>G	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1571A>G	19.37:g.12739914A>G	ENSP00000342974:p.Tyr524Cys		Somatic				ZNF791_uc010xml.1_Missense_Mutation_p.Y492C|ZNF791_uc010dyu.1_Missense_Mutation_p.Y415C|ZNF791_uc010xmm.1_Missense_Mutation_p.Y415C	p.Y524C	NM_153358	NP_699189	WXS	Illumina GAIIx	Phase_I	Q3KP31	ZN791_HUMAN			3	1733	+			524					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1571A>G	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806439	0.31961	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.69306	-0.39;-0.39;1.8	1.89	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78046	0.4222	M	0.81682	2.555	0.19300	N	0.999979	D	0.89917	1.0	D	0.97110	1.0	T	0.63301	-0.6668	9	0.72032	D	0.01	.	4.0738	0.09894	0.6846:0.0:0.0:0.3154	.	524	Q3KP31	ZN791_HUMAN	C	524;492;415	ENSP00000342974:Y524C;ENSP00000441761:Y492C;ENSP00000441038:Y415C	ENSP00000342974:Y524C	Y	+	2	0	ZNF791	12600914	0.023000	0.18921	0.038000	0.18304	0.967000	0.64934	0.622000	0.24433	0.868000	0.35678	0.402000	0.26972	TAT		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		9	99	0	0	0	1	0	9	99					G	12739914	A	G	12739914	3	3	199	1	0	0	0	0	1	0	0	0	18160	449	16	3	1585	3	ZNF791	19	12739914	Missense_Mutation	SNP	A	TCGA-EL-A3T0-01A-22D-A22D-08	3099698	12739914	46389069	22	3574											
TMEM38A	79041	broad.mit.edu	37	19	16799119	16799119	+	Silent	SNP	C	C	T	rs540893827		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr19:16799119C>T	ENST00000187762.2	+	6	928	c.837C>T	c.(835-837)ccC>ccT	p.P279P		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	279						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGGCCATGCCCGCCAAGTCCA	0.657													.|||	1	0.000199681	0	0	5008	,	,		16934	0		0	False		,,,				2504	0.001					uc002nes.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(835-837)ccC>ccT		Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.							53	56	55					19																	16799119		2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799119C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.837C>T	19.37:g.16799119C>T			Somatic					p.P279P	NM_024074	NP_076979	WXS	Illumina GAIIx	Phase_I	Q9H6F2	TM38A_HUMAN			5	928	+			279					A8K9P9	Silent	SNP	ENST00000187762.2	37	c.837C>T	CCDS12349.1																																																																																				0.657	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		25	75	0	0	0	1	0	25	75					T	16799119	C	T	16799119	2	4	199	1	0	0	0	0	0	0	0	1	16156	639	23	1		1	TMEM38A	19	16799119	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	4059205	16799119	42329864	23	3575											
MMP24	10893	broad.mit.edu	37	20	33839758	33839758	+	Missense_Mutation	SNP	G	G	A	rs557891491		TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:33839758G>A	ENST00000246186.6	+	3	531	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	149	Poly-Arg.				cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CACTTAAGCCGTAGGCGGAGA	0.547													G|||	1	0.000199681	0	0.0014	5008	,	,		21605	0		0	False		,,,				2504	0					uc002xbu.2																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(445-447)cGt>cAt		Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.							138	144	142					20																	33839758		2029	4186	6215	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33839758G>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.446G>A	20.37:g.33839758G>A	ENSP00000246186:p.Arg149His		Somatic				EDEM2_uc010zuv.1_Intron	p.R149H	NM_006690	NP_006681	WXS	Illumina GAIIx	Phase_I	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	449	+			149			Poly-Arg.		B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.446G>A	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669497	0.47677	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.17054	2.3	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);	0.112422	0.64402	D	0.000012	T	0.17492	0.0420	M	0.64997	1.995	0.34728	D	0.729402	B	0.10296	0.003	B	0.09377	0.004	T	0.10894	-1.0610	10	0.35671	T	0.21	.	8.6868	0.34243	0.2356:0.0:0.7644:0.0	.	149	Q9Y5R2	MMP24_HUMAN	H	149;97	ENSP00000246186:R149H	ENSP00000246186:R149H	R	+	2	0	MMP24	33303174	0.998000	0.40836	0.870000	0.34147	0.854000	0.48673	3.501000	0.53325	1.407000	0.46875	0.655000	0.94253	CGT		0.547	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		4	188	0	0	0	1	0	4	188					A	33839758	G	A	33839758	3	1	199	1	0	0	0	0	1	0	0	0	9661	1145	40	1	206	1	MMP24	20	33839758	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		33839758	29185762	24	3576											
ZNF335	63925	broad.mit.edu	37	20	44581287	44581287	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:44581287C>T	ENST00000322927.2	-	19	2864	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	ZNF335_ENST00000426788.1_Missense_Mutation_p.G767S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	922					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)				TAGTGGGTGCCAGCTTCTTTT	0.587																																						uc002xqw.3																			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.(2764-2766)Ggc>Agc		Homo sapiens zinc finger protein 335 (ZNF335), mRNA.							169	135	147					20																	44581287		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44581287C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2764G>A	20.37:g.44581287C>T	ENSP00000325326:p.Gly922Ser		Somatic				ZNF335_uc002xqv.3_Missense_Mutation_p.G34S|ZNF335_uc010zxk.2_Missense_Mutation_p.G767S	p.G922S	NM_022095	NP_071378	WXS	Illumina GAIIx	Phase_I	Q9H4Z2	ZN335_HUMAN			18	2887	-		Myeloproliferative disorder(115;0.0122)	922					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2764G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177569	0.38413	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.07800	3.29;3.16	4.77	2.65	0.31530	.	0.400925	0.26571	N	0.023627	T	0.03651	0.0104	N	0.08118	0	0.28179	N	0.928265	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.001	T	0.32824	-0.9892	10	0.30854	T	0.27	-24.7235	5.0925	0.14715	0.0:0.6878:0.0:0.3122	.	767;922	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	S	922;699;767	ENSP00000325326:G922S;ENSP00000397098:G767S	ENSP00000243961:G699S	G	-	1	0	ZNF335	44014694	0.182000	0.23173	0.990000	0.47175	0.936000	0.57629	0.571000	0.23669	1.198000	0.43158	0.555000	0.69702	GGC		0.587	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		53	166	0	0	0	1	0	53	166					T	44581287	C	T	44581287	3	4	199	1	0	0	0	0	1	0	0	0	17849	594	21	2	1304	2	ZNF335	20	44581287	Missense_Mutation	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08	10741529	44581287	18444233	25	3577											
COL20A1	57642	broad.mit.edu	37	20	61951642	61951642	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr20:61951642G>A	ENST00000358894.6	+	25	3175		c.e25-1		COL20A1_ENST00000422202.1_Splice_Site|COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCGTTGCAGTTTCAGCTCC	0.701																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.e25-1		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							41	45	44					20																	61951642		2058	4204	6262	SO:0001630	splice_region_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61951642G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3076-1G>A	20.37:g.61951642G>A			Somatic				COL20A1_uc011aav.2_Splice_Site_p.F847_splice	p.F1026_splice	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			25	3176	+	all_cancers(38;1.39e-10)		1026			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Splice_Site	SNP	ENST00000358894.6	37	c.3076_splice	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.318909	0.10845	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1745	0.48590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL20A1	61422087	1.000000	0.71417	0.911000	0.35937	0.026000	0.11368	4.984000	0.63838	1.889000	0.54706	0.462000	0.41574	.		0.701	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	Intron	3	98	0	0	0	1	0	3	98					A	61951642	G	A	61951642	5	1	199	1	0	0	0	0	0	0	1	0	3679	1043	36	2	3169	2	COL20A1	20	61951642	Splice_Site	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	17370355	61951642	1073878	26	3578											
TTC3	7267	broad.mit.edu	37	21	38536445	38536445	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr21:38536445G>A	ENST00000399017.2	+	32	6010	c.3263G>A	c.(3262-3264)aGt>aAt	p.S1088N	TTC3_ENST00000355666.1_Missense_Mutation_p.S1088N|TTC3_ENST00000354749.2_Missense_Mutation_p.S1088N|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1088					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GACCAACACAGTAACGAATAT	0.398																																					Ovarian(38;194 1649 35661)	uc002yvz.3																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3262-3264)aGt>aAt		Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.							101	92	95					21																	38536445		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38536445G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3263G>A	21.37:g.38536445G>A	ENSP00000381981:p.Ser1088Asn		Somatic				TTC3_uc011aee.1_Missense_Mutation_p.S778N|TTC3_uc002ywa.3_Missense_Mutation_p.S1088N|TTC3_uc002ywb.3_Missense_Mutation_p.S1088N|TTC3_uc010gnf.3_Missense_Mutation_p.S853N|TTC3_uc002ywc.3_Missense_Mutation_p.S778N|TTC3_uc002ywd.1_Missense_Mutation_p.S152N	p.S1088N	NM_001001894	NP_003307	WXS	Illumina GAIIx	Phase_I	P53804	TTC3_HUMAN			31	3368	+		Myeloproliferative disorder(46;0.0412)	1088					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3263G>A	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.849998|1.849998	0.32699|0.32699	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.14893|.	2.47;2.47;2.8;2.8;2.8|.	4.76|4.76	-0.722|-0.722	0.11184|0.11184	.|.	0.376195|.	0.25258|.	N|.	0.031976|.	T|T	0.39118|0.39118	0.1066|0.1066	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999999|0.999999	P;P|.	0.47910|.	0.902;0.842|.	B;B|.	0.43301|.	0.415;0.236|.	T|T	0.37663|0.37663	-0.9696|-0.9696	10|5	0.22706|.	T|.	0.39|.	-2.1146|-2.1146	2.6162|2.6162	0.04905|0.04905	0.111:0.1392:0.465:0.2848|0.111:0.1392:0.465:0.2848	.|.	146;1088|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	N|I	1088;1070;1088;1088;1088|244	ENSP00000403943:S1088N;ENSP00000391891:S1070N;ENSP00000347889:S1088N;ENSP00000381981:S1088N;ENSP00000346791:S1088N|.	ENSP00000346791:S1088N|.	S|V	+|+	2|1	0|0	TTC3|TTC3	37458315|37458315	0.000000|0.000000	0.05858|0.05858	0.019000|0.019000	0.16419|0.16419	0.859000|0.859000	0.49053|0.49053	-0.240000|-0.240000	0.08952|0.08952	0.050000|0.050000	0.15949|0.15949	0.591000|0.591000	0.81541|0.81541	AGT|GTA		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			3	93	0	0	0	1	0	3	93					A	38536445	G	A	38536445	3	1	199	1	0	0	0	0	1	0	0	0	16694	1029	36	2	3385	2	TTC3	21	38536445	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		38536445	9593450	27	3579											
SREBF2	6721	broad.mit.edu	37	22	42262982	42262982	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:42262982G>A	ENST00000361204.4	+	2	402	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	79	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcaggggcagcagcagcGGA	0.602																																						uc003bbi.3																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(235-237)aGc>aAc		Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.							83	72	76					22																	42262982		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding	g.chr22:42262982G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.236G>A	22.37:g.42262982G>A	ENSP00000354476:p.Ser79Asn		Somatic				bK250D10.C22.8_uc003bba.1_Intron	p.S79N	NM_004599	NP_004590	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			1	405	+			79			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.236G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	7.763	0.705838	0.15172	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55052	0.54	4.02	-2.35	0.06684	.	0.324019	0.30455	N	0.009597	T	0.24160	0.0585	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09862	-1.0655	10	0.36615	T	0.2	-0.0544	6.3177	0.21200	0.2149:0.3894:0.3957:0.0	.	79	Q12772	SRBP2_HUMAN	N	79	ENSP00000354476:S79N	ENSP00000354476:S79N	S	+	2	0	SREBF2	40592928	0.216000	0.23585	0.001000	0.08648	0.451000	0.32288	0.551000	0.23361	-0.159000	0.11021	0.561000	0.74099	AGC		0.602	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		3	88	0	0	0	1	0	3	88					A	42262982	G	A	42262982	3	1	199	1	0	0	0	0	1	0	0	0	15141	971	34	2	242	2	SREBF2	22	42262982	Missense_Mutation	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08		42262982	9041584	28	3580											
MAPK8IP2	23542	broad.mit.edu	37	22	51044095	51044095	+	Silent	SNP	G	G	A			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chr22:51044095G>A	ENST00000399908.2	+	5	1865	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	MAPK8IP2_ENST00000329492.3_Silent_p.T648T|MAPK8IP2_ENST00000442429.2_Silent_p.T371T|MAPK8IP2_ENST00000341339.4_Silent_p.T269T|MAPK8IP2_ENST00000008876.5_Silent_p.T354T|MAPK8IP2_ENST00000399912.1_Silent_p.T383T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	649	Necessary for interaction with FGF13.				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)		ACATGCGCACGGGGGAGCGCG	0.652																																						uc003bmx.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1942-1944)acG>acA		Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.							37	46	43					22																	51044095		2132	4242	6374	SO:0001819	synonymous_variant	23542				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding	g.chr22:51044095G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1149G>A	22.37:g.51044095G>A			Somatic				MAPK8IP2_uc003bmy.3_Silent_p.T621T|MAPK8IP2_uc011asc.2_Silent_p.T3T	p.T648T	NM_012324	NP_036456	WXS	Illumina GAIIx	Phase_I	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)	7	2061	+		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)	649			SH3.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000399908.2	37	c.1944G>A																																																																																					0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		3	58	0	0	0	1	0	3	58					A	51044095	G	A	51044095	2	1	199	1	0	0	0	0	0	0	0	1	9285	1103	39	1		1	MAPK8IP2	22	51044095	Silent	SNP	G	TCGA-EL-A3T0-01A-22D-A22D-08	8781113	51044095	260471	29	3581											
MAP7D2	256714	broad.mit.edu	37	X	20044031	20044031	+	Silent	SNP	C	C	T			TCGA-EL-A3T0-01A-22D-A22D-08	TCGA-EL-A3T0-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54426b1a-e0d3-4d8e-9e81-2d8e6b153b22	93f3e9bc-7221-4442-af55-1004bdf61842	g.chrX:20044031C>T	ENST00000379651.3	-	8	942	c.924G>A	c.(922-924)acG>acA	p.T308T	MAP7D2_ENST00000543767.1_Silent_p.T193T|MAP7D2_ENST00000443379.3_Silent_p.T263T|MAP7D2_ENST00000452324.3_Silent_p.T256T|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Silent_p.T349T	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	308					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						AGGGAGGTTTCGTTGTCTTTG	0.493																																						uc010nfo.2																			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.(1045-1047)acG>acA		Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.							187	174	178					X																	20044031		2203	4300	6503	SO:0001819	synonymous_variant	256714							g.chrX:20044031C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.924G>A	X.37:g.20044031C>T			Somatic				MAP7D2_uc004czq.2_Silent_p.T193T|MAP7D2_uc011mji.2_Silent_p.T256T|MAP7D2_uc004czr.2_Silent_p.T308T|MAP7D2_uc011mjj.2_Silent_p.T263T	p.T349T	NM_001168465	NP_001161937	WXS	Illumina GAIIx	Phase_I	Q96T17	MA7D2_HUMAN			8	1164	-			308					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.1047G>A	CCDS14195.1																																																																																				0.493	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		37	252	0	0	0	1	0	37	252					T	20044031	C	T	20044031	2	4	199	1	0	0	0	0	0	0	0	1	9268	871	31	1		1	MAP7D2	23	20044031	Silent	SNP	C	TCGA-EL-A3T0-01A-22D-A22D-08		20044031	135226529	30	3582											
FH	2271	broad.mit.edu	37	1	241665851	241665851	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr1:241665851C>A	ENST00000366560.3	-	8	1166	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	376					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTGCTTCACACTGAGTAGGGT	0.408			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1126-1128)caG>caT		Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.							104	86	92					1																	241665851		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665851C>A	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1128G>T	1.37:g.241665851C>A	ENSP00000355518:p.Gln376His		Somatic					p.Q376H	NM_000143	NP_000134	WXS	Illumina GAIIx	Phase_I	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	7	1191	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	376					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1128G>T	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846651	0.71603	.	.	ENSG00000091483	ENST00000366560	D	0.99429	-5.89	5.96	4.12	0.48240	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.124352	0.64402	D	0.000009	D	0.99539	0.9835	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98674	1.0689	10	0.87932	D	0	-17.4801	11.1733	0.48584	0.0:0.8506:0.0:0.1494	.	376	P07954	FUMH_HUMAN	H	376	ENSP00000355518:Q376H	ENSP00000355518:Q376H	Q	-	3	2	FH	239732474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.963000	0.49184	0.873000	0.35799	-0.133000	0.14855	CAG		0.408	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		31	57	0	0	0	1	0	31	57					A	241665851	C	A	241665851	3	1	200	1	0	0	0	0	1	0	0	0	5875	564	20	4	416	4	FH	1	241665851	Missense_Mutation	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08		241665851	7584770	1	3583											
WDR52	55779	broad.mit.edu	37	3	113098181	113098181	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:113098181G>A	ENST00000295868.2	-	17	2432	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	WDR52_ENST00000393845.2_Missense_Mutation_p.S757L|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCCTGGCTCTGAGTAAAATCC	0.388																																						uc003ead.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2269-2271)tCa>tTa		Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.							56	58	57					3																	113098181		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113098181G>A																												ENST00000295868.2:c.2270C>T	3.37:g.113098181G>A	ENSP00000295868:p.Ser757Leu		Somatic				WDR52_uc003eae.2_Missense_Mutation_p.S757L	p.S757L	NM_001164496	NP_001157968	WXS	Illumina GAIIx	Phase_I	Q96MT7	WDR52_HUMAN			16	2337	-			757						Missense_Mutation	SNP	ENST00000295868.2	37	c.2270C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333707	0.60853	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.24350	1.86;1.86	5.42	5.42	0.78866	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.44726	0.1307	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.09335	-1.0679	9	0.44086	T	0.13	.	19.0063	0.92852	0.0:0.0:1.0:0.0	.	757	Q96MT7	WDR52_HUMAN	L	757	ENSP00000377428:S757L;ENSP00000295868:S757L	ENSP00000295868:S757L	S	-	2	0	WDR52	114580871	1.000000	0.71417	0.968000	0.41197	0.279000	0.26890	5.130000	0.64745	2.826000	0.97356	0.563000	0.77884	TCA		0.388	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			14	41	0	0	0	1	0	14	41					A	113098181	G	A	113098181	3	1	200	1	0	0	0	0	1	0	0	0	17301	1294	45	2	3385	2	WDR52	3	113098181	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		113098181	84924249	2	3584											
PARP9	83666	broad.mit.edu	37	3	122259432	122259432	+	Missense_Mutation	SNP	A	A	G	rs143155766	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:122259432A>G	ENST00000360356.2	-	8	1984	c.1757T>C	c.(1756-1758)aTt>aCt	p.I586T	PARP9_ENST00000471785.1_Missense_Mutation_p.I551T|PARP9_ENST00000492382.1_Missense_Mutation_p.I131T|PARP9_ENST00000477522.2_Missense_Mutation_p.I551T|PARP9_ENST00000462315.1_Missense_Mutation_p.I551T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	586					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCTCCTTCAATCTCTAACTC	0.443													A|||	4	0.000798722	8e-04	0.0043	5008	,	,		19686	0		0	False		,,,				2504	0					uc010hri.3																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1756-1758)aTt>aCt		Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.		A	THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE	11,4395	19.1+/-41.9	0,11,2192	108	104	105		1757,1652,1652,1652,1652,1757	5.0	1.0	3	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	89,89,89,89,89,89	0,12,6491	GG,GA,AA		0.0116,0.2497,0.0923	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	586/855,551/820,551/820,551/820,551/711,586/855	122259432	12,12994	2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259432A>G	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1757T>C	3.37:g.122259432A>G	ENSP00000353512:p.Ile586Thr		Somatic				PARP9_uc003eff.4_Missense_Mutation_p.I551T|PARP9_uc011bjs.2_Missense_Mutation_p.I551T|PARP9_uc003efg.3_Missense_Mutation_p.I131T|PARP9_uc003efi.3_Missense_Mutation_p.I551T|PARP9_uc003efh.3_Missense_Mutation_p.I586T|PARP9_uc003efj.2_Missense_Mutation_p.I551T	p.I586T	NM_001146102	NP_113646	WXS	Illumina GAIIx	Phase_I	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	7	1902	-			586					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1757T>C	CCDS3014.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	A	14.82	2.649964	0.47362	0.002497	1.16E-4	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.22743	2.92;2.45;2.8;2.8;1.94	4.98	4.98	0.66077	.	0.123300	0.36972	N	0.002316	T	0.32615	0.0835	M	0.66939	2.045	0.46437	D	0.99904	D;D;D;D	0.71674	0.995;0.995;0.998;0.994	P;P;D;P	0.65573	0.859;0.82;0.936;0.908	T	0.19712	-1.0297	10	0.87932	D	0	.	11.0072	0.47641	1.0:0.0:0.0:0.0	.	551;586;131;551	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	T	586;131;551;551;509;551	ENSP00000353512:I586T;ENSP00000417664:I131T;ENSP00000419506:I551T;ENSP00000419001:I551T;ENSP00000418894:I551T	ENSP00000353512:I586T	I	-	2	0	PARP9	123742122	1.000000	0.71417	0.999000	0.59377	0.287000	0.27160	5.165000	0.64959	2.097000	0.63578	0.528000	0.53228	ATT		0.443	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		12	23	0	0	0	1	0	12	23					G	122259432	A	G	122259432	3	3	200	1	0	0	0	0	1	0	0	0	11466	101	4	3	876	3	PARP9	3	122259432	Missense_Mutation	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08	9161251	122259432	75762998	3	3585											
CORIN	10699	broad.mit.edu	37	4	47839953	47839953	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:47839953G>C	ENST00000273857.4	-	1	13	c.14C>G	c.(13-15)cCt>cGt	p.P5R	RP11-121C2.2_ENST00000563286.1_lincRNA|CORIN_ENST00000502252.1_Missense_Mutation_p.P5R|CORIN_ENST00000504584.1_Missense_Mutation_p.P5R|CORIN_ENST00000505909.1_Missense_Mutation_p.P5R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	5					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCGAGGGCAGGAGACTGTTT	0.557																																						uc003gxm.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(13-15)cCt>cGt		Homo sapiens corin, serine peptidase (CORIN), mRNA.							109	111	111					4																	47839953		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47839953G>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.14C>G	4.37:g.47839953G>C	ENSP00000273857:p.Pro5Arg		Somatic				CORIN_uc011bzg.2_Missense_Mutation_p.P5R|CORIN_uc011bzh.1_Missense_Mutation_p.P5R|CORIN_uc011bzi.1_Missense_Mutation_p.P5R|CORIN_uc003gxn.4_Missense_Mutation_p.P5R	p.P5R	NM_006587	NP_006578	WXS	Illumina GAIIx	Phase_I	Q9Y5Q5	CORIN_HUMAN			0	107	-			5					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.14C>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805560	0.16467	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.92495	-2.53;-2.58;-2.42;-3.05	4.71	0.903	0.19296	.	0.612042	0.14744	N	0.301027	D	0.82453	0.5040	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.12013	0.005;0.003;0.0;0.001	B;B;B;B	0.10450	0.004;0.005;0.001;0.002	T	0.70400	-0.4882	10	0.49607	T	0.09	.	4.3502	0.11151	0.2838:0.1664:0.5498:0.0	.	5;5;5;5	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	R	5	ENSP00000273857:P5R;ENSP00000424212:P5R;ENSP00000425401:P5R;ENSP00000423216:P5R	ENSP00000273857:P5R	P	-	2	0	CORIN	47534710	0.861000	0.29849	0.000000	0.03702	0.000000	0.00434	2.344000	0.44010	0.020000	0.15106	-0.258000	0.10820	CCT		0.557	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			13	161	0	0	0	1	0	13	161					C	47839953	G	C	47839953	3	2	200	1	0	0	0	0	1	0	0	0	3752	1000	35	4	3202	4	CORIN	4	47839953	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		47839953	143314323	4	3586											
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						uc011bzo.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(823-825)cTt>cCt		Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.							121	119	119					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro		Somatic				DCUN1D4_uc003gze.3_Missense_Mutation_p.L231P|DCUN1D4_uc003gzf.3_Intron|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L171P|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron	p.L275P	NM_001040402	NP_001035492	WXS	Illumina GAIIx	Phase_I	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		8	831	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.824T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	94	0	0	0	1	0	3	94					C	52777312	T	C	52777312	3	2	200	1	0	0	0	0	1	0	0	0	4316	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-EL-A3T1-01A-11D-A22D-08	4937359	52777312	138376964	5	3587											
GPR98	84059	broad.mit.edu	37	5	90001231	90001231	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr5:90001231G>A	ENST00000405460.2	+	37	8497	c.8401G>A	c.(8401-8403)Gga>Aga	p.G2801R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2801					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCACCAGCCGGAATCGCCCT	0.428																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(8401-8403)Gga>Aga		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							163	157	159					5																	90001231		1956	4153	6109	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:90001231G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8401G>A	5.37:g.90001231G>A	ENSP00000384582:p.Gly2801Arg		Somatic				GPR98_uc003kjt.3_Missense_Mutation_p.G507R|GPR98_uc003kjv.3_Missense_Mutation_p.G401R	p.G2801R	NM_032119	NP_115495	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	36	8497	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2801					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8401G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457918	0.96240	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.34667	1.35	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63611	-0.6598	10	0.72032	D	0.01	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	2801;2801	E7ETI5;Q8WXG9	.;GPR98_HUMAN	R	2801	ENSP00000384582:G2801R	ENSP00000296619:G2801R	G	+	1	0	GPR98	90036987	1.000000	0.71417	0.810000	0.32431	0.300000	0.27592	9.043000	0.93799	2.729000	0.93468	0.650000	0.86243	GGA		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	197	0	0	0	1	0	7	197					A	90001231	G	A	90001231	3	1	200	1	0	0	0	0	1	0	0	0	6721	1117	39	1	8547	1	GPR98	5	90001231	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		90001231	90914029	6	3588											
ZNF292	23036	broad.mit.edu	37	6	87964746	87964746	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:87964746G>T	ENST00000369577.3	+	8	1442	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	ZNF292_ENST00000339907.4_Missense_Mutation_p.V462L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	467						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCATCCATTGTGTCTTCAAT	0.378																																						uc003plm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1399-1401)Gtg>Ttg		Homo sapiens zinc finger protein 292 (ZNF292), mRNA.							107	99	102					6																	87964746		1859	4089	5948	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964746G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1399G>T	6.37:g.87964746G>T	ENSP00000358590:p.Val467Leu		Somatic					p.V467L	NM_015021	NP_055836	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	7	1440	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	467					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1399G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914379	0.72983	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.35789	1.29;1.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	L	0.54323	1.7	0.58432	D	0.999996	D	0.67145	0.996	D	0.68039	0.955	T	0.47355	-0.9124	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	467	O60281	ZN292_HUMAN	L	467;462	ENSP00000358590:V467L;ENSP00000342847:V462L	ENSP00000342847:V462L	V	+	1	0	ZNF292	88021465	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.062000	0.89475	2.880000	0.98712	0.650000	0.86243	GTG		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		20	42	0	0	0	1	0	20	42					T	87964746	G	T	87964746	3	4	200	1	0	0	0	0	1	0	0	0	17823	1377	48	4	1429	4	ZNF292	6	87964746	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		87964746	83150321	7	3589											
ROS1	6098	broad.mit.edu	37	6	117686282	117686282	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:117686282G>T	ENST00000368508.3	-	20	3257	c.3059C>A	c.(3058-3060)cCt>cAt	p.P1020H	ROS1_ENST00000368507.3_Missense_Mutation_p.P1015H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1020	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GTAGGTATAAGGAGTGACAGA	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	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.(3058-3060)cCt>cAt		Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.							91	91	91					6																	117686282		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.chr6:117686282G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		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"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3059C>A	6.37:g.117686282G>T	ENSP00000357494:p.Pro1020His		Somatic				ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	p.P1020H	NM_002944	NP_002935	WXS	Illumina GAIIx	Phase_I	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	19	3258	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1020			Fibronectin type-III 4.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3059C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125482	0.77436	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53857	0.6;0.6	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000006	T	0.53981	0.1830	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61417	-0.7067	10	0.87932	D	0	.	17.9707	0.89112	0.0:0.0:1.0:0.0	.	1020	P08922	ROS1_HUMAN	H	1020;1015	ENSP00000357494:P1020H;ENSP00000357493:P1015H	ENSP00000357493:P1015H	P	-	2	0	ROS1	117792975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.131000	0.71670	2.644000	0.89710	0.655000	0.94253	CCT		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			21	41	0	0	0	1	0	21	41					T	117686282	G	T	117686282	3	4	200	1	0	0	0	0	1	0	0	0	13531	1000	35	4	4080	4	ROS1	6	117686282	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	29721536	117686282	53428785	8	3590											
CUX1	1523	broad.mit.edu	37	7	101870709	101870709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:101870709G>T	ENST00000292535.7	+	21	3231	c.3193G>T	c.(3193-3195)Gag>Tag	p.E1065*	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E907*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1009*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E963*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.E1076*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1043*|CUX1_ENST00000560541.1_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1065					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGTTCCAGTGAGTCGGTGAA	0.597																																						uc003uys.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3226-3228)Gag>Tag		Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.							83	91	88					7																	101870709		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870709G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3193G>T	7.37:g.101870709G>T	ENSP00000292535:p.Glu1065*		Somatic				CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Nonsense_Mutation_p.E1065*	p.E1076*	NM_001202543	NP_001189472	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			20	3353	+			1065					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.3226G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	39	7.747788	0.98468	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-14.7319	19.7848	0.96432	0.0:0.0:1.0:0.0	.	.	.	.	X	1076;1065;1043;1009;963;907	.	ENSP00000292535:E1065X	E	+	1	0	CUX1	101657429	1.000000	0.71417	0.863000	0.33907	0.557000	0.35523	8.004000	0.88535	2.673000	0.90976	0.655000	0.94253	GAG		0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		33	205	0	0	0	1	0	33	205					T	101870709	G	T	101870709	4	4	200	1	0	0	0	0	0	1	0	0	4064	1291	45	4	3342	4	CUX1	7	101870709	Nonsense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		101870709	57267954	9	3591											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	63	0	0	0	1	0	40	63					T	140453136	A	T	140453136	3	4	200	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T1-01A-11D-A22D-08	38582427	140453136	18685527	10	3592											
ZNF510	22869	broad.mit.edu	37	9	99537117	99537117	+	Missense_Mutation	SNP	G	G	A	rs148190358	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:99537117G>A	ENST00000375231.1	-	3	732	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	ZNF510_ENST00000223428.4_Missense_Mutation_p.R28W			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	28					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(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGGAGAACCGTAAAGGATAA	0.458													G|||	2	0.000399361	0	0	5008	,	,		18483	0		0.002	False		,,,				2504	0					uc004awn.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(82-84)Cgg>Tgg		Homo sapiens zinc finger protein 510 (ZNF510), mRNA.		G	TRP/ARG	0,4406		0,0,2203	85	85	85		82	2.7	0.0	9	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF510	NM_014930.1	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	28/684	99537117	2,13004	2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99537117G>A	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.82C>T	9.37:g.99537117G>A	ENSP00000364379:p.Arg28Trp		Somatic				ZNF510_uc004awo.1_Missense_Mutation_p.R28W	p.R28W	NM_014930	NP_055745	WXS	Illumina GAIIx	Phase_I	Q9Y2H8	ZN510_HUMAN			2	271	-		Acute lymphoblastic leukemia(62;0.0527)	28					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.82C>T	CCDS35074.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	13.82	2.349947	0.41599	0.0	2.33E-4	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.06449	3.3;3.3;5.7	2.7	2.7	0.31948	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	B	0.34452	0.183	T	0.42599	-0.9442	9	0.66056	D	0.02	.	9.0762	0.36522	0.0:0.0:1.0:0.0	.	28	Q9Y2H8	ZN510_HUMAN	W	28	ENSP00000364379:R28W;ENSP00000223428:R28W;ENSP00000363772:R28W	ENSP00000223428:R28W	R	-	1	2	ZNF510	98576938	0.112000	0.22096	0.020000	0.16555	0.616000	0.37450	2.367000	0.44213	1.831000	0.53308	0.561000	0.74099	CGG		0.458	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		3	70	0	0	0	1	0	3	70					A	99537117	G	A	99537117	3	1	200	1	0	0	0	0	1	0	0	0	17951	1144	40	1	1985	1	ZNF510	9	99537117	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		99537117	41676314	11	3593											
DNM1	1759	broad.mit.edu	37	9	130984562	130984562	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:130984562G>A	ENST00000372923.3	+	7	1028	c.936G>A	c.(934-936)gaG>gaA	p.E312E	DNM1_ENST00000393594.3_Silent_p.E312E|DNM1_ENST00000475805.1_Silent_p.E312E|DNM1_ENST00000341179.7_Silent_p.E312E|DNM1_ENST00000486160.1_Silent_p.E312E	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	312					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						AGGAGGTGGAGGAATACAAGA	0.612																																					GBM(113;146 1575 2722 28670 29921)	uc022bob.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(934-936)gaG>gaA		Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.							86	80	82					9																	130984562		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130984562G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.936G>A	9.37:g.130984562G>A			Somatic				DNM1_uc022bnx.1_Silent_p.E312E|DNM1_uc022bny.1_Silent_p.E312E|DNM1_uc022bnz.1_Silent_p.E312E|DNM1_uc022boa.1_Silent_p.E312E	p.E312E	NM_004408	NP_004399	WXS	Illumina GAIIx	Phase_I	Q05193	DYN1_HUMAN			6	1023	+			312					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.936G>A	CCDS6895.1																																																																																				0.612	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		3	80	0	0	0	1	0	3	80					A	130984562	G	A	130984562	2	1	200	1	0	0	0	0	0	0	0	1	4670	991	35	2		2	DNM1	9	130984562	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	31447445	130984562	10228869	12	3594											
GPRIN2	9721	broad.mit.edu	37	10	46999778	46999778	+	Missense_Mutation	SNP	G	G	A	rs147795605	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr10:46999778G>A	ENST00000374317.1	+	3	1171	c.898G>A	c.(898-900)Gct>Act	p.A300T	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A300T	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	300										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TTGGGGTCCCGCTGGGTTAGT	0.617													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		39545	0		0	False		,,,				2504	0					uc001jec.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(898-900)Gct>Act		Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.		G	THR/ALA	2,4404	2.1+/-5.4	0,2,2201	70	75	73		898	-3.8	0.0	10	dbSNP_134	73	0,8600		0,0,4300	yes	missense	GPRIN2	NM_014696.3	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	300/459	46999778	2,13004	2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999778G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.898G>A	10.37:g.46999778G>A	ENSP00000363436:p.Ala300Thr		Somatic				GPRIN2_uc021ppt.1_Missense_Mutation_p.A300T	p.A300T	NM_014696	NP_055511	WXS	Illumina GAIIx	Phase_I	O60269	GRIN2_HUMAN			2	1033	+			300					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.898G>A	CCDS31192.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	0.005	-2.153263	0.00325	4.54E-4	0.0	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03330	3.97;3.97	4.55	-3.81	0.04294	.	1.047480	0.07555	N	0.916074	T	0.01061	0.0035	N	0.01109	-1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47275	-0.9130	10	0.02654	T	1	-1.2323	6.8408	0.23961	0.3242:0.1802:0.4956:0.0	.	300	O60269	GRIN2_HUMAN	T	300	ENSP00000363436:A300T;ENSP00000363433:A300T	ENSP00000363433:A300T	A	+	1	0	GPRIN2	46419784	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.269000	0.18589	-0.527000	0.06374	-1.401000	0.01141	GCT		0.617	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		22	76	0	0	0	1	0	22	76					A	46999778	G	A	46999778	3	1	200	1	0	0	0	0	1	0	0	0	6730	1087	38	1	900	1	GPRIN2	10	46999778	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		46999778	88534969	13	3595											
RSPRY1	89970	broad.mit.edu	37	16	57238772	57238772	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:57238772G>A	ENST00000537866.1	+	2	1075	c.202G>A	c.(202-204)Gta>Ata	p.V68I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V68I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	68						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAACAGTGCAGTACCCACTGC	0.547																																						uc002elb.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(202-204)Gta>Ata		Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.							103	99	100					16																	57238772		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238772G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.202G>A	16.37:g.57238772G>A	ENSP00000443176:p.Val68Ile		Somatic				RSPRY1_uc002elc.3_Missense_Mutation_p.V68I|RSPRY1_uc002eld.3_Missense_Mutation_p.V68I|RSPRY1_uc002ele.1_Missense_Mutation_p.V68I	p.V68I	NM_133368	NP_588609	WXS	Illumina GAIIx	Phase_I	Q96DX4	RSPRY_HUMAN			1	480	+			68					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.202G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	5.141	0.211640	0.09757	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.85411	-1.98;-1.98	5.27	-0.639	0.11497	.	0.645131	0.16087	N	0.230228	T	0.68860	0.3047	L	0.36672	1.1	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.16289	0.015;0.004	T	0.49254	-0.8959	10	0.07325	T	0.83	.	2.5649	0.04781	0.1207:0.2067:0.3568:0.3158	.	68;68	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	I	68	ENSP00000377942:V68I;ENSP00000443176:V68I	ENSP00000377942:V68I	V	+	1	0	RSPRY1	55796273	0.245000	0.23899	0.990000	0.47175	0.980000	0.70556	0.795000	0.26972	0.277000	0.22141	-0.176000	0.13171	GTA		0.547	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		5	112	0	0	0	1	0	5	112					A	57238772	G	A	57238772	3	1	200	1	0	0	0	0	1	0	0	0	13713	1029	36	2	204	2	RSPRY1	16	57238772	Missense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		57238772	33115981	14	3596											
PLEKHG4	25894	broad.mit.edu	37	16	67316145	67316145	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:67316145G>A	ENST00000360461.5	+	8	3681	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q	PLEKHG4_ENST00000450733.1_Silent_p.Q301Q|PLEKHG4_ENST00000379344.3_Silent_p.Q382Q|PLEKHG4_ENST00000427155.2_Silent_p.Q382Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	382							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCTGATGCAGCAGGTGCTAG	0.612																																						uc002eso.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1144-1146)caG>caA		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 1, mRNA.							46	49	48					16																	67316145		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316145G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1146G>A	16.37:g.67316145G>A			Somatic				PLEKHG4_uc002esp.4_Silent_p.Q189Q|PLEKHG4_uc002esq.4_Silent_p.Q382Q|PLEKHG4_uc010cef.3_Silent_p.Q382Q|PLEKHG4_uc002ess.4_Silent_p.Q382Q|PLEKHG4_uc010ceg.3_Silent_p.Q301Q	p.Q382Q	NM_015432	NP_056247	WXS	Illumina GAIIx	Phase_I	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	7	3681	+			382					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.1146G>A	CCDS32466.1																																																																																				0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		3	90	0	0	0	1	0	3	90					A	67316145	G	A	67316145	2	1	200	1	0	0	0	0	0	0	0	1	12071	962	34	2		2	PLEKHG4	16	67316145	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	10077373	67316145	23038608	15	3597											
ALOX12	239	broad.mit.edu	37	17	6902319	6902319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:6902319G>A	ENST00000251535.6	+	5	643	c.590G>A	c.(589-591)tGg>tAg	p.W197*	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	197	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGAGCTCCTGGAACTGCCTA	0.552																																						uc002gdx.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(589-591)tGg>tAg		Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.							134	121	125					17																	6902319		2203	4300	6503	SO:0001587	stop_gained	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6902319G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.590G>A	17.37:g.6902319G>A	ENSP00000251535:p.Trp197*		Somatic				LOC100506713_uc021tou.1_Intron	p.W197*	NM_000697	NP_000688	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			4	643	+			197			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	ENST00000251535.6	37	c.590G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432818	0.96150	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1348	13.8709	0.63617	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000251535:W197X	W	+	2	0	ALOX12	6843043	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.722000	0.74735	2.741000	0.93983	0.551000	0.68910	TGG		0.552	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			4	152	0	0	0	1	0	4	152					A	6902319	G	A	6902319	4	1	200	1	0	0	0	0	0	1	0	0	536	1357	47	2	608	2	ALOX12	17	6902319	Nonsense_Mutation	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08		6902319	74292891	16	3598											
RPL23	9349	broad.mit.edu	37	17	37009327	37009327	+	Silent	SNP	C	C	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:37009327C>G	ENST00000479035.2	-	2	177	c.45G>C	c.(43-45)cgG>cgC	p.R15R	RPL23_ENST00000394333.1_Silent_p.R15R|RPL23_ENST00000394332.1_Silent_p.R15R|RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000577407.1_Silent_p.R15R|SNORA21_ENST00000516890.1_RNA|SNORA21_ENST00000362423.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	15					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 protein import into nucleus (GO:0006610)|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)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						CCAAGGAAATCCGGAATTTCG	0.478																																						uc002hqx.1																			0				endometrium(2)|large_intestine(1)	3						c.(43-45)cgG>cgC		Homo sapiens ribosomal protein L23 (RPL23), mRNA.							74	65	68					17																	37009327		2203	4300	6503	SO:0001819	synonymous_variant	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37009327C>G	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"L ribosomal proteins"	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.45G>C	17.37:g.37009327C>G			Somatic				RPL23_uc002hqy.1_Silent_p.R15R|SNORA21_uc002hqz.1_5'Flank	p.R15R	NM_000978	NP_000969	WXS	Illumina GAIIx	Phase_I	P62829	RL23_HUMAN			1	135	-			15					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Silent	SNP	ENST00000479035.2	37	c.45G>C	CCDS11330.1																																																																																				0.478	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		9	38	0	0	0	1	0	9	38					G	37009327	C	G	37009327	2	3	200	1	0	0	0	0	0	0	0	1	13570	842	30	4		4	RPL23	17	37009327	Silent	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08	30107008	37009327	44185883	17	3599											
MUC16	94025	broad.mit.edu	37	19	9057556	9057556	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:9057556C>T	ENST00000397910.4	-	3	30093	c.29890G>A	c.(29890-29892)Ggg>Agg	p.G9964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9966	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						GCTGTAGCCCCAGGAGAACTT	0.483																																						uc002mkp.3																			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.(29890-29892)Ggg>Agg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							257	249	252					19																	9057556		1960	4162	6122	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057556C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29890G>A	19.37:g.9057556C>T	ENSP00000381008:p.Gly9964Arg		Somatic					p.G9964R	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	30094	-			9966			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29890G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.047	0.377084	0.11466	.	.	ENSG00000181143	ENST00000397910	T	0.03607	3.87	2.22	-1.53	0.08611	.	.	.	.	.	T	0.03348	0.0097	N	0.19112	0.55	.	.	.	P	0.35821	0.523	B	0.42163	0.378	T	0.41378	-0.9512	8	0.87932	D	0	.	5.2816	0.15678	0.0:0.5136:0.0:0.4864	.	9964	B5ME49	.	R	9964	ENSP00000381008:G9964R	ENSP00000381008:G9964R	G	-	1	0	MUC16	8918556	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.458000	0.06737	-0.252000	0.09528	0.460000	0.39030	GGG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	305	0	0	0	1	0	15	305					T	9057556	C	T	9057556	3	4	200	1	0	0	0	0	1	0	0	0	9973	594	21	2	13961	2	MUC16	19	9057556	Missense_Mutation	SNP	C	TCGA-EL-A3T1-01A-11D-A22D-08		9057556	50071427	18	3600											
DYRK1B	9149	broad.mit.edu	37	19	40319135	40319135	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:40319135G>A	ENST00000593685.1	-	6	1077	c.609C>T	c.(607-609)aaC>aaT	p.N203N	DYRK1B_ENST00000348817.3_Silent_p.N203N|DYRK1B_ENST00000323039.5_Silent_p.N203N|DYRK1B_ENST00000430012.2_Silent_p.N203N|DYRK1B_ENST00000597639.1_Silent_p.N203N			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGAAGTGGGTGTTGCGCAGGA	0.612																																						uc002omj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(607-609)aaC>aaT		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.							74	70	71					19																	40319135		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40319135G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.609C>T	19.37:g.40319135G>A			Somatic				DYRK1B_uc002omi.3_Silent_p.N203N|DYRK1B_uc002omk.3_Silent_p.N203N	p.N203N	NM_004714	NP_004705	WXS	Illumina GAIIx	Phase_I	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		5	889	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		203			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.609C>T	CCDS12543.1																																																																																				0.612	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	30	0	0	0	1	0	3	30					A	40319135	G	A	40319135	2	1	200	1	0	0	0	0	0	0	0	1	4855	1368	48	2		2	DYRK1B	19	40319135	Silent	SNP	G	TCGA-EL-A3T1-01A-11D-A22D-08	31261579	40319135	18809848	19	3601											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		69	90	0	0	0	1	0	69	90					C	115256529	T	C	115256529	3	2	201	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		115256529	133994092	1	3602											
THBS3	7059	broad.mit.edu	37	1	155168008	155168008	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr1:155168008T>C	ENST00000368378.3	-	18	2098	c.2078A>G	c.(2077-2079)aAt>aGt	p.N693S	MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N573S|THBS3_ENST00000541576.1_Missense_Mutation_p.N90S|THBS3_ENST00000541990.1_Missense_Mutation_p.N222S|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	693					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)			ACCAACGCCATTGCCTGGGCA	0.537																																						uc001fix.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.(2077-2079)aAt>aGt		Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.							123	106	112					1																	155168008		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.chr1:155168008T>C	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2078A>G	1.37:g.155168008T>C	ENSP00000357362:p.Asn693Ser		Somatic				THBS3_uc021pat.1_Missense_Mutation_p.N90S|THBS3_uc010pfu.2_Missense_Mutation_p.N573S|THBS3_uc009wqi.3_Missense_Mutation_p.N684S|THBS3_uc001fiy.3_Missense_Mutation_p.N222S|THBS3_uc010pfv.2_Non-coding_Transcript	p.N693S	NM_007112	NP_009043	WXS	Illumina GAIIx	Phase_I	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)		17	2183	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		693					B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2078A>G	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945586	0.53079	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	4.66	4.66	0.58398	.	0.057330	0.64402	D	0.000003	D	0.97195	0.9083	M	0.72353	2.195	0.80722	D	1	B;P;P;P	0.40681	0.361;0.727;0.727;0.727	B;B;B;B	0.42959	0.403;0.314;0.314;0.314	D	0.98190	1.0462	10	0.87932	D	0	-12.9723	12.0999	0.53776	0.0:0.0:0.0:1.0	.	573;693;693;693	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	S	693;90;573;222	ENSP00000357362:N693S;ENSP00000444792:N90S;ENSP00000392207:N573S;ENSP00000437353:N222S	ENSP00000357362:N693S	N	-	2	0	THBS3	153434632	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.868000	0.87116	1.952000	0.56665	0.460000	0.39030	AAT		0.537	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		37	72	0	0	0	1	0	37	72					C	155168008	T	C	155168008	3	2	201	1	0	0	0	0	1	0	0	0	15852	1493	52	3	816	3	THBS3	1	155168008	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08	39911479	155168008	94082613	2	3603											
UBR3	130507	broad.mit.edu	37	2	170843170	170843170	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr2:170843170A>T	ENST00000272793.5	+	25	3700	c.3650A>T	c.(3649-3651)gAt>gTt	p.D1217V	UBR3_ENST00000392631.1_Missense_Mutation_p.D38V|UBR3_ENST00000418381.1_Missense_Mutation_p.D1217V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1217					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CCTGAGAATGATATTCCTATG	0.418																																						uc010zdi.2																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3649-3651)gAt>gTt		Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.							82	77	79					2																	170843170		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170843170A>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3650A>T	2.37:g.170843170A>T	ENSP00000272793:p.Asp1217Val		Somatic				UBR3_uc002ufr.4_Intron|UBR3_uc010fqa.3_Missense_Mutation_p.D38V|UBR3_uc002uft.4_Missense_Mutation_p.D70V	p.D1217V	NM_172070	NP_742067	WXS	Illumina GAIIx	Phase_I	Q6ZT12	UBR3_HUMAN			24	3650	+			1217					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3650A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.230640|4.230640	0.79688|0.79688	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631|ENST00000392632	T;T;T|.	0.50001|.	0.85;0.85;0.76|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.100939|.	0.64402|.	D|.	0.000002|.	T|T	0.72598|0.72598	0.3480|0.3480	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	B;P;P|.	0.51791|.	0.392;0.948;0.745|.	B;P;B|.	0.49999|.	0.193;0.628;0.31|.	T|T	0.72316|0.72316	-0.4330|-0.4330	10|5	0.72032|.	D|.	0.01|.	.|.	15.5259|15.5259	0.75905|0.75905	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1217;38;1217|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	V|L	1217;1217;1217;38|275	ENSP00000272793:D1217V;ENSP00000396068:D1217V;ENSP00000376408:D38V|.	ENSP00000272793:D1217V|.	D|I	+|+	2|1	0|0	UBR3|UBR3	170551416|170551416	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.917000|0.917000	0.54804|0.54804	8.939000|8.939000	0.92951|0.92951	2.073000|2.073000	0.62155|0.62155	0.477000|0.477000	0.44152|0.44152	GAT|ATA		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		5	54	0	0	0	1	0	5	54					T	170843170	A	T	170843170	3	4	201	1	0	0	0	0	1	0	0	0	16900	333	12	5	3748	5	UBR3	2	170843170	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08		170843170	72356203	3	3604											
MAGI1	9223	broad.mit.edu	37	3	65365210	65365210	+	Silent	SNP	C	C	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr3:65365210C>T	ENST00000497477.2	-	17	2720	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E	MAGI1_ENST00000402939.2_Silent_p.E907E|MAGI1_ENST00000330909.8_Silent_p.E935E|MAGI1_ENST00000483466.1_Silent_p.E935E			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	935					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCGAGGGCACCTCGTTCTCGG	0.622																																						uc003dmn.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2719-2721)gaG>gaA		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.							110	116	114					3																	65365210		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65365210C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2721G>A	3.37:g.65365210C>T			Somatic				MAGI1_uc003dmm.3_Silent_p.E935E|MAGI1_uc003dmo.3_Silent_p.E935E|MAGI1_uc003dmp.3_Silent_p.E907E|MAGI1_uc003dmq.1_Non-coding_Transcript|MAGI1_uc010hnx.1_Silent_p.E218E	p.E907E	NM_001033057	NP_001028229	WXS	Illumina GAIIx	Phase_I	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	16	3247	-		Lung NSC(201;0.0016)	935					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.2721G>A		.	.	.	.	.	.	.	.	.	.	C	7.423	0.637063	0.14386	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.24	4.36	0.52297	.	.	.	.	.	T	0.55847	0.1946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53019	-0.8497	4	.	.	.	-24.1512	6.3218	0.21223	0.0:0.677:0.0:0.323	.	.	.	.	K	816	.	.	R	-	2	0	MAGI1	65340250	0.998000	0.40836	1.000000	0.80357	0.832000	0.47134	0.426000	0.21363	1.193000	0.43086	0.591000	0.81541	AGG		0.622	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		79	141	0	0	0	1	0	79	141					T	65365210	C	T	65365210	2	4	201	1	0	0	0	0	0	0	0	1	9190	680	24	2		2	MAGI1	3	65365210	Silent	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08		65365210	132657220	4	3605											
NIPBL	25836	broad.mit.edu	37	5	37001181	37001181	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr5:37001181G>A	ENST00000282516.8	+	14	4163		c.e14+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						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)			ACTGCGTTTGGTAAAATCAAC	0.333																																						uc003jkl.4																			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.e14+1		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							61	66	65					5																	37001181		2202	4293	6495	SO:0001630	splice_region_variant	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.chr5:37001181G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3664+1G>A	5.37:g.37001181G>A			Somatic				NIPBL_uc003jkk.4_Splice_Site_p.G1222_splice	p.G1222_splice	NM_133433	NP_597677	WXS	Illumina GAIIx	Phase_I	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		14	4163	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1222					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	c.3664_splice	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234926	0.79800	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37036938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.063000	0.93927	2.646000	0.89796	0.655000	0.94253	.		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	33	45	0	0	0	1	0	33	45					A	37001181	G	A	37001181	5	1	201	1	0	0	0	0	0	0	1	0	10428	1275	44	2	3715	2	NIPBL	5	37001181	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		37001181	143914079	5	3606											
DNAH8	1769	broad.mit.edu	37	6	38854566	38854566	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr6:38854566G>C	ENST00000359357.3	+	55	7862		c.e55-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						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						TGAAATTTCAGATAACTAATG	0.338																																						uc021yzh.1																			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.e57-1		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							95	91	92					6																	38854566		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38854566G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7609-1G>C	6.37:g.38854566G>C			Somatic				DNAH8_uc003ooe.2_Splice_Site_p.I2537_splice	p.I2754_splice	NM_001206927	NP_001193856	WXS	Illumina GAIIx	Phase_I					57	8369	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37	c.8260_splice		.	.	.	.	.	.	.	.	.	.	G	23.9	4.472059	0.84533	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0366	0.97561	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38962544	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.750000	0.98875	2.736000	0.93811	0.561000	0.74099	.		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	7	90	0	0	0	1	0	7	90					C	38854566	G	C	38854566	5	2	201	1	0	0	0	0	0	0	1	0	4607	956	33	4	7818	4	DNAH8	6	38854566	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		38854566	132260501	6	3607											
NFE2L3	9603	broad.mit.edu	37	7	26224962	26224962	+	Silent	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:26224962T>C	ENST00000056233.3	+	4	1903	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	548					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418																																						uc003sxq.3																			0		p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1642-1644)ccT>ccC		Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.							125	114	118					7																	26224962		2203	4300	6503	SO:0001819	synonymous_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224962T>C	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1644T>C	7.37:g.26224962T>C			Somatic					p.P548P	NM_004289	NP_004280	WXS	Illumina GAIIx	Phase_I	Q9Y4A8	NF2L3_HUMAN			3	1916	+			548					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.1644T>C	CCDS5396.1																																																																																				0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	79	0	0	0	1	0	4	79					C	26224962	T	C	26224962	2	2	201	1	0	0	0	0	0	0	0	1	10369	1596	56	3		3	NFE2L3	7	26224962	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		26224962	132913701	7	3608											
OR6V1	346517	broad.mit.edu	37	7	142750057	142750057	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr7:142750057G>C	ENST00000418316.1	+	1	641	c.620G>C	c.(619-621)aGc>aCc	p.S207T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTGTCCTCAGCTCCTTCCTG	0.542																																						uc011ksv.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(619-621)aGc>aCc		Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.							173	177	176					7																	142750057		2065	4223	6288	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750057G>C		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.620G>C	7.37:g.142750057G>C	ENSP00000396085:p.Ser207Thr		Somatic					p.S207T	NM_001001667	NP_001001667	WXS	Illumina GAIIx	Phase_I	Q8N148	OR6V1_HUMAN			0	620	+	Melanoma(164;0.059)		207					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.620G>C	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161832	0.09287	.	.	ENSG00000225781	ENST00000418316	T	0.37058	1.22	4.48	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20780	0.0500	N	0.11756	0.17	0.20074	N	0.999931	P	0.37207	0.587	B	0.35039	0.194	T	0.07385	-1.0775	9	0.25106	T	0.35	.	12.4012	0.55414	0.0:0.171:0.829:0.0	.	207	Q8N148	OR6V1_HUMAN	T	207	ENSP00000396085:S207T	ENSP00000396085:S207T	S	+	2	0	OR6V1	142460179	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.148000	0.16224	1.129000	0.42072	-0.121000	0.15023	AGC		0.542	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			4	203	0	0	0	1	0	4	203					C	142750057	G	C	142750057	3	2	201	1	0	0	0	0	1	0	0	0	11211	971	34	4	622	4	OR6V1	7	142750057	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	116525095	142750057	16388606	8	3609											
WHSC1L1	54904	broad.mit.edu	37	8	38187086	38187086	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr8:38187086G>A	ENST00000317025.8	-	6	1908	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P464L|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P464L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P464L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	464					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTTAACAGGCGGTGGCTCTTC	0.517			T	NUP98	AML																																	uc003xli.3				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1390-1392)cCg>cTg		Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.							99	96	97					8																	38187086		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38187086G>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1391C>T	8.37:g.38187086G>A	ENSP00000313983:p.Pro464Leu		Somatic				WHSC1L1_uc011lbm.2_Missense_Mutation_p.P464L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.P464L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.P464L	p.P464L	NM_023034	NP_075447	WXS	Illumina GAIIx	Phase_I	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		5	1909	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	464					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.1391C>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814959	0.90790	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.96522	-4.04;-4.0;-3.99;-0.85	5.41	5.41	0.78517	.	0.000000	0.48286	U	0.000195	D	0.97458	0.9168	L	0.50333	1.59	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;1.0;0.998	D	0.98052	1.0388	10	0.62326	D	0.03	.	19.2087	0.93746	0.0:0.0:1.0:0.0	.	464;464;464;464	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	464;464;401;464;464	ENSP00000393284:P464L;ENSP00000313983:P464L;ENSP00000434730:P464L;ENSP00000313410:P464L	ENSP00000313410:P464L	P	-	2	0	WHSC1L1	38306243	1.000000	0.71417	0.953000	0.39169	0.961000	0.63080	8.640000	0.91028	2.532000	0.85374	0.650000	0.86243	CCG		0.517	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		34	45	0	0	0	1	0	34	45					A	38187086	G	A	38187086	3	1	201	1	0	0	0	0	1	0	0	0	17360	1116	39	1	3085	1	WHSC1L1	8	38187086	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		38187086	108176936	9	3610											
C9orf103	414328	broad.mit.edu	37	9	86258573	86258573	+	Silent	SNP	T	T	C	rs138577393		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:86258573T>C	ENST00000376419.4	+	5	446	c.442T>C	c.(442-444)Ttg>Ctg	p.L148L	IDNK_ENST00000277124.8_Silent_p.L102L|IDNK_ENST00000454393.1_Silent_p.L191L|IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000405990.3_3'UTR	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	148					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										CCCTGAATTATTGCAGTCCCA	0.463																																						uc004amu.2																			0											c.(442-444)Ttg>Ctg		Homo sapiens chromosome 9 open reading frame 103 (C9orf103), transcript variant 1, mRNA.		T	,	0,4406		0,0,2203	79	84	82		442,	-6.1	0.5	9	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,utr-3	C9orf103	NM_001001551.2,NM_001190727.1	,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,	148/188,	86258573	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	414328				carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity	g.chr9:86258573T>C	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"chromosome 9 open reading frame 103"	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.442T>C	9.37:g.86258573T>C			Somatic				IDNK_uc004amt.2_Non-coding_Transcript|IDNK_uc010mpv.2_3'UTR	p.L148L	NM_001001551	NP_001001551	WXS	Illumina GAIIx	Phase_I	Q5T6J7	GNTK_HUMAN			4	496	+			148					A5PLN6|Q5T6J6	Silent	SNP	ENST00000376419.4	37	c.442T>C	CCDS35048.2																																																																																				0.463	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551		4	104	0	0	0	1	0	4	104					C	86258573	T	C	86258573	2	2	201	1	0	0	0	0	0	0	0	1	2446	1490	52	3		3	C9orf103	9	86258573	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		86258573	54954858	10	3611											
FCN2	2220	broad.mit.edu	37	9	137779025	137779025	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr9:137779025A>G	ENST00000291744.6	+	8	716	c.706A>G	c.(706-708)Acg>Gcg	p.T236A	FCN2_ENST00000350339.2_Missense_Mutation_p.T198A	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	236	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		T -> M (in dbSNP:rs17549193).		complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGATTCCCTGACGTTCCACAA	0.468																																						uc004cfg.1																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(706-708)Acg>Gcg		Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.							161	141	147					9																	137779025		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137779025A>G	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.706A>G	9.37:g.137779025A>G	ENSP00000291744:p.Thr236Ala		Somatic				FCN2_uc004cfh.1_Missense_Mutation_p.T198A	p.T236A	NM_004108	NP_004099	WXS	Illumina GAIIx	Phase_I	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	7	716	+		Myeloproliferative disorder(178;0.0333)	236		T -> M (in dbSNP:rs17549193).	Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.706A>G	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108482	0.20714	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.77620	-1.11;-1.11	4.05	0.128	0.14733	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.557101	0.14767	N	0.299635	T	0.63283	0.2498	L	0.45422	1.42	0.33603	D	0.602629	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.56269	-0.8007	10	0.42905	T	0.14	.	2.4346	0.04479	0.4298:0.0:0.2136:0.3566	.	198;236	Q15485-2;Q15485	.;FCN2_HUMAN	A	198;236	ENSP00000291741:T198A;ENSP00000291744:T236A	ENSP00000291744:T236A	T	+	1	0	FCN2	136918846	0.042000	0.20092	0.034000	0.17996	0.055000	0.15305	0.625000	0.24477	-0.006000	0.14370	0.460000	0.39030	ACG		0.468	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		8	113	0	0	0	1	0	8	113					G	137779025	A	G	137779025	3	3	201	1	0	0	0	0	1	0	0	0	5792	275	10	3	736	3	FCN2	9	137779025	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08	51520452	137779025	3434406	11	3612											
SBF2	81846	broad.mit.edu	37	11	10064433	10064433	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:10064433G>A	ENST00000256190.8	-	3	374	c.237C>T	c.(235-237)taC>taT	p.Y79Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	79	UDENN.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCATGAGCAGTAATGTCGAT	0.443																																						uc001mib.2																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(235-237)taC>taT		Homo sapiens SET binding factor 2 (SBF2), mRNA.							148	123	131					11																	10064433		2201	4294	6495	SO:0001819	synonymous_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10064433G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.237C>T	11.37:g.10064433G>A			Somatic				SBF2_uc001mif.3_5'UTR	p.Y79Y	NM_030962	NP_112224	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	2	375	-			79			UDENN.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	ENST00000256190.8	37	c.237C>T	CCDS31427.1																																																																																				0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	138	0	0	0	1	0	3	138					A	10064433	G	A	10064433	2	1	201	1	0	0	0	0	0	0	0	1	13859	1024	36	2		2	SBF2	11	10064433	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		10064433	124942083	12	3613											
ZNF259	8882	broad.mit.edu	37	11	116656238	116656238	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr11:116656238C>A	ENST00000227322.3	-	6	756	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		233					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		ACTTGAAGCCCCAGCATCTCT	0.502																																						uc001ppp.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(697-699)Ggg>Tgg		Homo sapiens zinc finger protein 259 (ZNF259), mRNA.							127	111	117					11																	116656238		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116656238C>A																												ENST00000227322.3:c.697G>T	11.37:g.116656238C>A	ENSP00000227322:p.Gly233Trp		Somatic					p.G233W	NM_003904	NP_003895	WXS	Illumina GAIIx	Phase_I	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	5	730	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	233					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.697G>T	CCDS8375.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.19|18.19|18.19	3.567953|3.567953|3.567953	0.65651|0.65651|0.65651	.|.|.	.|.|.	ENSG00000109917|ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000227322|ENST00000444935	.|T|.	.|0.62639|.	.|0.01|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|Zinc finger, ZPR1-type (1);|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	D|D|D	0.86422|0.86422|0.86422	0.5929|0.5929|0.5929	M|M|M	0.91561|0.91561|0.91561	3.22|3.22|3.22	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.91635|.	.|0.998;0.999|.	D|D|D	0.88515|0.88515|0.88515	0.3092|0.3092|0.3092	6|10|5	.|0.87932|.	.|D|.	.|0|.	-25.5273|-25.5273|-25.5273	19.7221|19.7221|19.7221	0.96147|0.96147|0.96147	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|182;233|.	.|B4DVT8;O75312|.	.|.;ZPR1_HUMAN|.	V|W|C	175|233|232	.|ENSP00000227322:G233W|.	.|ENSP00000227322:G233W|.	G|G|W	-|-|-	2|1|3	0|0|0	ZNF259|ZNF259|ZNF259	116161448|116161448|116161448	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.081000|0.081000|0.081000	0.17604|0.17604|0.17604	7.216000|7.216000|7.216000	0.77974|0.77974|0.77974	2.679000|2.679000|2.679000	0.91253|0.91253|0.91253	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGG|TGG		0.502	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			4	122	0	0	0	1	0	4	122					A	116656238	C	A	116656238	3	1	201	1	0	0	0	0	1	0	0	0	17798	623	22	4	718	4	ZNF259	11	116656238	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	106591805	116656238	18350278	13	3614											
DENND5B	160518	broad.mit.edu	37	12	31600669	31600669	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:31600669A>G	ENST00000389082.5	-	6	1928	c.1664T>C	c.(1663-1665)cTg>cCg	p.L555P	DENND5B_ENST00000536562.1_Missense_Mutation_p.L590P|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.L590P|DENND5B_ENST00000354285.4_Missense_Mutation_p.L577P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	555	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGAAATGGCAGGTAAGGCTC	0.403																																						uc001rkh.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1768-1770)cTg>cCg		Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.							44	45	45					12																	31600669		1879	4108	5987	SO:0001583	missense	160518					integral to membrane		g.chr12:31600669A>G	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1664T>C	12.37:g.31600669A>G	ENSP00000373734:p.Leu555Pro		Somatic				DENND5B_uc001rki.1_Missense_Mutation_p.L555P|DENND5B_uc001rkj.3_Missense_Mutation_p.L577P	p.L590P	NM_144973	NP_659410	WXS	Illumina GAIIx	Phase_I	Q6ZUT9	DEN5B_HUMAN			7	1920	-			555					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1769T>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179526	0.78564	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.0	5.0	0.66597	dDENN (3);	0.093243	0.44688	D	0.000422	T	0.62780	0.2456	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.996	T	0.62978	-0.6739	10	0.39692	T	0.17	-11.9046	14.853	0.70313	1.0:0.0:0.0:0.0	.	577;555;590	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	P	555;590;590;577	ENSP00000373734:L555P;ENSP00000306482:L590P;ENSP00000444889:L590P;ENSP00000346238:L577P	ENSP00000306482:L590P	L	-	2	0	DENND5B	31491936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.897000	0.92532	2.096000	0.63516	0.460000	0.39030	CTG		0.403	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		2	13	0	0	0	1	0	2	13					G	31600669	A	G	31600669	3	3	201	1	0	0	0	0	1	0	0	0	4437	188	7	3	2224	3	DENND5B	12	31600669	Missense_Mutation	SNP	A	TCGA-EL-A3T2-01A-11D-A22D-08		31600669	102251226	14	3615											
KDM2B	84678	broad.mit.edu	37	12	121877692	121877692	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr12:121877692G>T	ENST00000377071.4	-	22	3869	c.3797C>A	c.(3796-3798)aCc>aAc	p.T1266N	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.T634N|KDM2B_ENST00000377069.4_Missense_Mutation_p.T1197N	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1266					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGTCTCGGGTGGTGGTGCC	0.572																																						uc001uat.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3796-3798)aCc>aAc		Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.							109	127	121					12																	121877692		2157	4248	6405	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121877692G>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3797C>A	12.37:g.121877692G>T	ENSP00000366271:p.Thr1266Asn		Somatic				KDM2B_uc010szy.2_Missense_Mutation_p.T706N|KDM2B_uc001uaq.3_Missense_Mutation_p.T706N|KDM2B_uc001uar.3_Missense_Mutation_p.T857N|KDM2B_uc001uas.3_Missense_Mutation_p.T1197N|KDM2B_uc021rfd.1_Missense_Mutation_p.T1197N|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.T1266N|KDM2B_uc001uao.3_Missense_Mutation_p.T514N|KDM2B_uc010szx.2_Missense_Mutation_p.T514N|KDM2B_uc001uap.3_Non-coding_Transcript	p.T1266N	NM_032590	NP_115979	WXS	Illumina GAIIx	Phase_I	Q8NHM5	KDM2B_HUMAN			21	3901	-			1266					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3797C>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367115	0.95900	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.54675	0.56;0.56;0.56	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000045	T	0.69886	0.3161	L	0.51422	1.61	0.80722	D	1	D;D;D;P	0.76494	0.987;0.999;0.999;0.659	P;D;D;P	0.80764	0.671;0.994;0.994;0.539	T	0.70378	-0.4888	10	0.87932	D	0	-30.1826	20.1054	0.97890	0.0:0.0:1.0:0.0	.	706;1266;1197;709	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	N	1256;634;1197;1266;709;1269	ENSP00000437821:T634N;ENSP00000366269:T1197N;ENSP00000366271:T1266N	ENSP00000261824:T1269N	T	-	2	0	KDM2B	120362075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.881000	0.87252	2.757000	0.94681	0.655000	0.94253	ACC		0.572	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		15	50	0	0	0	1	0	15	50					T	121877692	G	T	121877692	3	4	201	1	0	0	0	0	1	0	0	0	8125	1261	44	4	273	4	KDM2B	12	121877692	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	90277023	121877692	11974203	15	3616											
MYH6	4624	broad.mit.edu	37	14	23858160	23858160	+	Silent	SNP	G	G	A	rs568275249		TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:23858160G>A	ENST00000356287.3	-	28	4112	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R	MYH6_ENST00000405093.3_Silent_p.R1361R|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1361					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)	p.R1361R(1)		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)		TGGACAGGACGCGCTGCAGCT	0.647													G|||	1	0.000199681	0	0	5008	,	,		16451	0		0	False		,,,				2504	0.001					uc001wjv.3																			1	Substitution - coding silent(1)	p.R1361R(2)	upper_aerodigestive_tract(1)	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.(4081-4083)cgC>cgT		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.							71	63	66					14																	23858160		2203	4300	6503	SO:0001819	synonymous_variant	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	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858160G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4083C>T	14.37:g.23858160G>A			Somatic				MIR208A_uc010tnn.2_5'Flank	p.R1361R	NM_002471	NP_002462	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	28	4154	-	all_cancers(95;2.54e-05)		1361					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4083C>T	CCDS9600.1																																																																																				0.647	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	88	0	0	0	1	0	4	88					A	23858160	G	A	23858160	2	1	201	1	0	0	0	0	0	0	0	1	10038	1074	38	1		1	MYH6	14	23858160	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		23858160	83491380	16	3617											
HSPA2	3306	broad.mit.edu	37	14	65008100	65008100	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:65008100C>A	ENST00000394709.1	+	2	609	c.533C>A	c.(532-534)aCg>aAg	p.T178K	HSPA2_ENST00000247207.6_Missense_Mutation_p.T178K|HSPA2_ENST00000554883.1_3'UTR|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	178					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AACGAGCCCACGGCGGCGGCC	0.642																																					Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(532-534)aCg>aAg		Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.							55	60	58					14																	65008100		2203	4299	6502	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008100C>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.533C>A	14.37:g.65008100C>A	ENSP00000378199:p.Thr178Lys		Somatic				HSPA2_uc001xhk.4_Missense_Mutation_p.T178K	p.T178K	NM_021979	NP_068814	WXS	Illumina GAIIx	Phase_I	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	609	+			178					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.533C>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924766	0.73213	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.01787	4.64;4.64	5.18	5.18	0.71444	.	0.000000	0.56097	U	0.000031	T	0.29028	0.0721	H	0.99970	5.12	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.66536	-0.5899	10	0.87932	D	0	-6.572	18.6851	0.91560	0.0:1.0:0.0:0.0	.	178	P54652	HSP72_HUMAN	K	178	ENSP00000378199:T178K;ENSP00000247207:T178K	ENSP00000247207:T178K	T	+	2	0	HSPA2	64077853	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	7.818000	0.86416	2.407000	0.81776	0.563000	0.77884	ACG		0.642	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			3	84	0	0	0	1	0	3	84					A	65008100	C	A	65008100	3	1	201	1	0	0	0	0	1	0	0	0	7411	536	19	4	535	4	HSPA2	14	65008100	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08	41149940	65008100	42341440	17	3618											
FLVCR2	55640	broad.mit.edu	37	14	76101253	76101253	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr14:76101253G>C	ENST00000238667.4	+	5	1377	c.1021G>C	c.(1021-1023)Ggg>Cgg	p.G341R	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000555027.1_Splice_Site_p.G56R|FLVCR2_ENST00000553587.1_Splice_Site_p.G89R|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Splice_Site_p.G136R	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	341					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTTTCCCCAGGGGGAAGAAGT	0.527																																						uc001xrs.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e5-1		Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.							98	82	87					14																	76101253		2203	4300	6503	SO:0001630	splice_region_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76101253G>C	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1021-1G>C	14.37:g.76101253G>C			Somatic				FLVCR2_uc010tvd.1_Splice_Site_p.G136_splice	p.G341_splice	NM_017791	NP_060261	WXS	Illumina GAIIx	Phase_I	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	5	1397	+			341					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Splice_Site	SNP	ENST00000238667.4	37	c.1021_splice	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855385	0.91355	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000553587;ENST00000554580;ENST00000555027	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.152263	0.64402	D	0.000013	T	0.79511	0.4458	M	0.90595	3.13	0.80722	D	1	P;P	0.44816	0.844;0.844	P;P	0.58780	0.845;0.781	T	0.81879	-0.0730	9	.	.	.	-4.5366	18.3372	0.90293	0.0:0.0:1.0:0.0	.	136;341	B7Z485;Q9UPI3	.;FLVC2_HUMAN	R	341;136;42;89;41;56	ENSP00000238667:G341R;ENSP00000443439:G136R;ENSP00000452584:G42R;ENSP00000451603:G89R;ENSP00000451781:G41R;ENSP00000452453:G56R	.	G	+	1	0	AC007182.1	75171006	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.257000	0.78362	2.630000	0.89119	0.591000	0.81541	GGG		0.527	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	Missense_Mutation	3	25	0	0	0	1	0	3	25					C	76101253	G	C	76101253	5	2	201	1	0	0	0	0	0	0	1	0	5946	1246	43	4	1039	4	FLVCR2	14	76101253	Splice_Site	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	11093153	76101253	31248287	18	3619											
TSR1	55720	broad.mit.edu	37	17	2238870	2238870	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr17:2238870G>C	ENST00000301364.5	-	3	1435	c.356C>G	c.(355-357)aCc>aGc	p.T119S	SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000426855.2_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.T119S|SGSM2_ENST00000574563.1_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	119	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AAAGTTCTGGGTGTTTCCCAA	0.483																																						uc002fuj.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(355-357)aCc>aGc		Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.							78	71	74					17																	2238870		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2238870G>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.356C>G	17.37:g.2238870G>C	ENSP00000301364:p.Thr119Ser		Somatic				SGSM2_uc002fum.4_5'Flank|SGSM2_uc002fun.4_5'Flank|SGSM2_uc010vqw.2_5'Flank	p.T119S	NM_018128	NP_060598	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			2	1313	-			119					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.356C>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	0.837	-0.743130	0.03088	.	.	ENSG00000167721	ENST00000301364	T	0.46451	0.87	5.71	0.203	0.15195	.	0.610732	0.19613	N	0.110098	T	0.15782	0.0380	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29731	-1.0002	10	0.08599	T	0.76	-4.5815	8.4197	0.32692	0.1164:0.3699:0.5137:0.0	.	119	Q2NL82	TSR1_HUMAN	S	119	ENSP00000301364:T119S	ENSP00000301364:T119S	T	-	2	0	TSR1	2185620	0.003000	0.15002	0.037000	0.18230	0.008000	0.06430	0.622000	0.24433	0.331000	0.23511	-0.304000	0.09214	ACC		0.483	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		3	115	0	0	0	1	0	3	115					C	2238870	G	C	2238870	3	2	201	1	0	0	0	0	1	0	0	0	16661	1261	44	4	2110	4	TSR1	17	2238870	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		2238870	78956340	19	3620											
TMX3	54495	broad.mit.edu	37	18	66367682	66367682	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr18:66367682T>C	ENST00000299608.2	-	6	668	c.352A>G	c.(352-354)Aca>Gca	p.T118A	TMX3_ENST00000562706.1_Missense_Mutation_p.T118A|TMX3_ENST00000443099.2_Intron	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	118	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCATCTTTTGTTCGTGGTCCT	0.254																																						uc002lkf.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(352-354)Aca>Gca		Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.							88	94	92					18																	66367682		2203	4286	6489	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66367682T>C	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.352A>G	18.37:g.66367682T>C	ENSP00000299608:p.Thr118Ala		Somatic				TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.4_Missense_Mutation_p.T118A	p.T118A	NM_019022	NP_061895	WXS	Illumina GAIIx	Phase_I	Q96JJ7	TMX3_HUMAN			5	487	-			118			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.352A>G	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875344	0.91664	.	.	ENSG00000166479	ENST00000299608;ENST00000544714	T	0.42131	0.98	5.99	5.99	0.97316	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.75150	2.29	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.68353	0.853;0.957	T	0.60571	-0.7237	10	0.28530	T	0.3	.	15.2959	0.73906	0.0:0.0:0.0:1.0	.	118;118	Q96JJ7-2;Q96JJ7	.;TMX3_HUMAN	A	118	ENSP00000299608:T118A	ENSP00000299608:T118A	T	-	1	0	TMX3	64518662	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.937000	0.87672	2.292000	0.77174	0.482000	0.46254	ACA		0.254	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		10	105	0	0	0	1	0	10	105					C	66367682	T	C	66367682	3	2	201	1	0	0	0	0	1	0	0	0	16265	1725	60	3	1056	3	TMX3	18	66367682	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		66367682	11709566	20	3621											
REXO1	57455	broad.mit.edu	37	19	1828209	1828209	+	Silent	SNP	T	T	C			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:1828209T>C	ENST00000170168.4	-	2	673	c.579A>G	c.(577-579)ggA>ggG	p.G193G	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	193	Poly-Gly.					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)		CGCCACCCCCTCCACCTCTGC	0.706																																						uc002lua.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(577-579)ggA>ggG		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.							16	20	18					19																	1828209		2193	4273	6466	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828209T>C	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.579A>G	19.37:g.1828209T>C			Somatic				REXO1_uc010dsr.1_Silent_p.G147G	p.G193G	NM_020695	NP_065746	WXS	Illumina GAIIx	Phase_I	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)	1	674	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	193			Poly-Gly.		Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.579A>G	CCDS32866.1																																																																																				0.706	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		2	21	0	0	0	1	0	2	21					C	1828209	T	C	1828209	2	2	201	1	0	0	0	0	0	0	0	1	13241	1538	54	3		3	REXO1	19	1828209	Silent	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08		1828209	57300774	21	3622											
NANOS2	339345	broad.mit.edu	37	19	46417736	46417736	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr19:46417736G>A	ENST00000341294.2	-	1	300	c.216C>T	c.(214-216)tcC>tcT	p.S72S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	72					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGACGTGGCGGGACTCCCCGT	0.692																																						uc002pdu.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(214-216)tcC>tcT		Homo sapiens nanos homolog 2 (Drosophila) (NANOS2), mRNA.							69	63	65					19																	46417736		2203	4300	6503	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417736G>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.216C>T	19.37:g.46417736G>A			Somatic					p.S72S	NM_001029861	NP_001025032	WXS	Illumina GAIIx	Phase_I	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	0	301	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	72					Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.216C>T	CCDS33056.1																																																																																				0.692	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			3	82	0	0	0	1	0	3	82					A	46417736	G	A	46417736	2	1	201	1	0	0	0	0	0	0	0	1	10152	1219	43	2		2	NANOS2	19	46417736	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08	44589527	46417736	12711247	22	3623											
KRTAP8-1	337879	broad.mit.edu	37	21	32185391	32185391	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr21:32185391C>T	ENST00000329621.4	-	1	179	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						CCGAAAGCCCCACAGCCGTTG	0.567																																						uc002you.3																			0		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						c.(148-150)Ggg>Agg		Homo sapiens keratin associated protein 8-1 (KRTAP8-1), mRNA.							85	79	81					21																	32185391		2203	4300	6503	SO:0001583	missense	337879					intermediate filament		g.chr21:32185391C>T	AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"Keratin associated proteins"	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.148G>A	21.37:g.32185391C>T	ENSP00000332805:p.Gly50Arg		Somatic					p.G50R	NM_175857	NP_787053	WXS	Illumina GAIIx	Phase_I	Q8IUC2	KRA81_HUMAN			0	180	-			50			12 X 2 AA repeats of G-[YCGS].		Q3LI57	Missense_Mutation	SNP	ENST00000329621.4	37	c.148G>A	CCDS13607.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527788	0.27299	.	.	ENSG00000183640	ENST00000329621	T	0.07567	3.18	5.41	3.46	0.39613	.	0.341304	0.20764	N	0.086105	T	0.07818	0.0196	.	.	.	0.28917	N	0.892349	P	0.42961	0.795	B	0.43950	0.437	T	0.13361	-1.0512	9	0.24483	T	0.36	-10.6446	8.4956	0.33125	0.1746:0.6569:0.1685:0.0	.	50	Q8IUC2	KRA81_HUMAN	R	50	ENSP00000332805:G50R	ENSP00000332805:G50R	G	-	1	0	KRTAP8-1	31107262	0.808000	0.29022	0.442000	0.26870	0.288000	0.27193	0.782000	0.26788	1.402000	0.46780	0.655000	0.94253	GGG		0.567	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1			8	160	0	0	0	1	0	8	160					T	32185391	C	T	32185391	3	4	201	1	0	0	0	0	1	0	0	0	8572	594	21	2	47	2	KRTAP8-1	21	32185391	Missense_Mutation	SNP	C	TCGA-EL-A3T2-01A-11D-A22D-08		32185391	15944504	23	3624											
MYO18B	84700	broad.mit.edu	37	22	26219630	26219630	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chr22:26219630G>A	ENST00000407587.2	+	13	2849	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E894K|MYO18B_ENST00000335473.7_Missense_Mutation_p.E894K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	894	Myosin motor.					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						CCTCGAGGATGAGGAAACCAG	0.562																																						uc003abz.1																			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.(2680-2682)Gag>Aag		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							165	158	161					22																	26219630		2036	4182	6218	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	g.chr22:26219630G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2680G>A	22.37:g.26219630G>A	ENSP00000386096:p.Glu894Lys		Somatic				MYO18B_uc003aca.1_Missense_Mutation_p.E775K|MYO18B_uc010guy.1_Missense_Mutation_p.E775K|MYO18B_uc010guz.1_Missense_Mutation_p.E775K|MYO18B_uc011aka.1_Missense_Mutation_p.E48K|MYO18B_uc011akb.1_Missense_Mutation_p.E407K	p.E894K	NM_032608	NP_115997	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			12	2930	+			894			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2680G>A		.	.	.	.	.	.	.	.	.	.	G	10.45	1.353080	0.24512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89123	-2.47;-2.47;-2.47	4.31	0.53	0.17102	Myosin head, motor domain (2);	1.161200	0.06593	N	0.752423	D	0.84561	0.5499	L	0.54323	1.7	0.26882	N	0.967518	P;P;P;P	0.40534	0.525;0.72;0.617;0.673	B;B;B;B	0.37387	0.115;0.248;0.173;0.16	T	0.72181	-0.4368	10	0.31617	T	0.26	.	7.6214	0.28187	0.096:0.3139:0.5901:0.0	.	407;894;894;894	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	894	ENSP00000441229:E894K;ENSP00000334563:E894K;ENSP00000386096:E894K	ENSP00000334563:E894K	E	+	1	0	MYO18B	24549630	1.000000	0.71417	0.186000	0.23195	0.077000	0.17291	3.548000	0.53670	0.447000	0.26695	0.448000	0.29417	GAG		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	135	0	0	0	1	0	4	135					A	26219630	G	A	26219630	3	1	201	1	0	0	0	0	1	0	0	0	10066	1291	45	2	2726	2	MYO18B	22	26219630	Missense_Mutation	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		26219630	25084936	24	3625											
ZFX	7543	broad.mit.edu	37	X	24228800	24228800	+	Silent	SNP	G	G	A			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:24228800G>A	ENST00000379177.1	+	11	2152	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	ZFX_ENST00000539115.1_Silent_p.P346P|ZFX_ENST00000304543.5_Silent_p.P575P|ZFX_ENST00000540034.1_Silent_p.P614P|ZFX_ENST00000338565.3_Silent_p.P525P|ZFX_ENST00000379188.3_Silent_p.P575P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	575					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGAGAAGCCGTACCAATGCC	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	uc011mjv.2																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1840-1842)ccG>ccA		Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.							97	88	91					X																	24228800		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228800G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1725G>A	X.37:g.24228800G>A			Somatic				ZFX_uc004dbd.2_Silent_p.P575P|ZFX_uc004dbf.3_Silent_p.P575P|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Silent_p.P575P|ZFX_uc010nfx.2_Silent_p.P346P|ZFX_uc010nfz.3_Silent_p.P231P	p.P614P	NM_001178086	NP_001171557	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			9	2091	+			575					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.1842G>A	CCDS14211.1																																																																																				0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		3	101	0	0	0	1	0	3	101					A	24228800	G	A	24228800	2	1	201	1	0	0	0	0	0	0	0	1	17658	1132	40	1		1	ZFX	23	24228800	Silent	SNP	G	TCGA-EL-A3T2-01A-11D-A22D-08		24228800	131041760	25	3626											
STAG2	10735	broad.mit.edu	37	X	123211862	123211862	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3T2-01A-11D-A22D-08	TCGA-EL-A3T2-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2155c3ec-aa6e-41bf-9092-94b89ba47845	38f0d4b5-0437-48dd-81cf-8e1d9d0ec2ea	g.chrX:123211862T>G	ENST00000371160.1	+	27	3019	c.2729T>G	c.(2728-2730)aTa>aGa	p.I910R	STAG2_ENST00000371145.3_Missense_Mutation_p.I910R|STAG2_ENST00000354548.5_Missense_Mutation_p.I841R|STAG2_ENST00000218089.9_Missense_Mutation_p.I910R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.I910R|STAG2_ENST00000371157.3_Missense_Mutation_p.I910R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	910					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACAAGGCAGATAGACAAAATT	0.313																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2728-2730)aTa>aGa		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							118	102	108					X																	123211862		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123211862T>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2729T>G	X.37:g.123211862T>G	ENSP00000360202:p.Ile910Arg		Somatic				STAG2_uc004etz.4_Missense_Mutation_p.I910R|STAG2_uc004eub.3_Missense_Mutation_p.I910R|STAG2_uc004euc.3_Missense_Mutation_p.I910R|STAG2_uc004eud.3_Missense_Mutation_p.I910R|STAG2_uc004eue.3_Missense_Mutation_p.I910R	p.I910R	NM_001042749	NP_001036215	WXS	Illumina GAIIx	Phase_I	Q8N3U4	STAG2_HUMAN			26	3133	+			910					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2729T>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595386	0.66219	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.35421	1.69;1.33;1.31;1.31;1.69;1.31	5.7	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.80616	2.505	0.80722	D	1	P;D	0.60575	0.942;0.988	P;P	0.60345	0.726;0.873	T	0.56613	-0.7950	10	0.41790	T	0.15	1.0791	11.9485	0.52942	0.0:0.0:0.1433:0.8567	.	910;910	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	R	910;841;910;910;910;910	ENSP00000218089:I910R;ENSP00000346555:I841R;ENSP00000360202:I910R;ENSP00000360199:I910R;ENSP00000360187:I910R;ENSP00000360186:I910R	ENSP00000218089:I910R	I	+	2	0	STAG2	123039543	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.114000	0.71560	0.755000	0.32990	0.412000	0.27726	ATA		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		38	96	0	0	0	1	0	38	96					G	123211862	T	G	123211862	3	3	201	1	0	0	0	0	1	0	0	0	15242	1406	49	5	2827	5	STAG2	23	123211862	Missense_Mutation	SNP	T	TCGA-EL-A3T2-01A-11D-A22D-08	98983062	123211862	32058698	26	3627											
C1QA	712	broad.mit.edu	37	1	22965567	22965567	+	Silent	SNP	G	G	C	rs569999510		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:22965567G>C	ENST00000374642.3	+	3	609	c.405G>C	c.(403-405)acG>acC	p.T135T	C1QA_ENST00000402322.1_Silent_p.T135T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	135	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTTCGACACGGTCATCACCA	0.602																																						uc001bfy.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(403-405)acG>acC		Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	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)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						69	62	65					1																	22965567		2203	4300	6503	SO:0001819	synonymous_variant	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965567G>C	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"Complement system"	1241	protein-coding gene	gene with protein product		120550	"complement component 1, q subcomponent, alpha polypeptide"			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.405G>C	1.37:g.22965567G>C			Somatic					p.T135T	NM_015991	NP_057075	WXS	Illumina GAIIx	Phase_I	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	490	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	135			C1q.		B2R4X2|Q5T963	Silent	SNP	ENST00000374642.3	37	c.405G>C	CCDS226.1	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231602	0.09969	.	.	ENSG00000173372	ENST00000339353	.	.	.	5.48	-0.308	0.12773	.	0.457491	0.16055	N	0.231745	T	0.22975	0.0555	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.18429	-1.0337	6	0.26408	T	0.33	0.0124	5.057	0.14539	0.1461:0.2599:0.4957:0.0982	.	.	.	.	P	130	.	ENSP00000341271:R130P	R	+	2	0	C1QA	22838154	0.002000	0.14202	0.644000	0.29465	0.680000	0.39746	-0.022000	0.12480	0.030000	0.15379	-0.226000	0.12346	CGG		0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		3	67	0	0	0	1	0	3	67					C	22965567	G	C	22965567	2	2	202	1	0	0	0	0	0	0	0	1	1954	1103	39	4		4	C1QA	1	22965567	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		22965567	226285054	1	3628											
RBBP4	5928	broad.mit.edu	37	1	33123032	33123032	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:33123032G>A	ENST00000373493.5	+	3	328	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000373485.1_Missense_Mutation_p.E57K|RBBP4_ENST00000414241.3_Missense_Mutation_p.E56K|RBBP4_ENST00000458695.2_Missense_Mutation_p.E22K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	57					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTACAGACCAGAAGGGAAAGA	0.413																																						uc001bvr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(169-171)Gaa>Aaa		Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.							109	99	102					1																	33123032		2203	4300	6503	SO:0001583	missense	5928				CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33123032G>A	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.169G>A	1.37:g.33123032G>A	ENSP00000362592:p.Glu57Lys		Somatic				RBBP4_uc001bvs.3_Missense_Mutation_p.E56K|RBBP4_uc010ohj.2_Intron|RBBP4_uc010ohk.2_Missense_Mutation_p.E22K	p.E57K	NM_005610	NP_001128728	WXS	Illumina GAIIx	Phase_I	Q09028	RBBP4_HUMAN			2	328	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	57					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.169G>A	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502438	0.44455	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695;ENST00000490500;ENST00000445722	T;T;T;T	0.69306	-0.35;-0.39;-0.28;-0.37	5.13	5.13	0.70059	.	0.044278	0.85682	D	0.000000	T	0.59074	0.2167	L	0.47716	1.5	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.004;0.01	T	0.55872	-0.8072	10	0.08599	T	0.76	.	17.9525	0.89058	0.0:0.0:1.0:0.0	.	56;57	Q09028-2;Q09028	.;RBBP4_HUMAN	K	56;57;57;22;22;22	ENSP00000398242:E56K;ENSP00000362592:E57K;ENSP00000362584:E57K;ENSP00000396057:E22K	ENSP00000362584:E57K	E	+	1	0	RBBP4	32895619	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.638000	0.98445	2.559000	0.86315	0.491000	0.48974	GAA		0.413	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		6	107	0	0	0	1	0	6	107					A	33123032	G	A	33123032	3	1	202	1	0	0	0	0	1	0	0	0	13101	943	33	2	179	2	RBBP4	1	33123032	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	10157465	33123032	216127589	2	3629											
ZMYM4	9202	broad.mit.edu	37	1	35870639	35870639	+	Missense_Mutation	SNP	A	A	G	rs201516168		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:35870639A>G	ENST00000314607.6	+	24	3624	c.3544A>G	c.(3544-3546)Ata>Gta	p.I1182V	ZMYM4_ENST00000373297.2_Missense_Mutation_p.I1093V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1182					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGAAGTCTATAGTGGCTGT	0.413																																						uc001byt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(3544-3546)Ata>Gta		Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.		A	VAL/ILE	0,4406		0,0,2203	64	75	71		3544	-4.4	0.8	1		71	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ZMYM4	NM_005095.2	29	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign	1182/1549	35870639	1,13003	2203	4299	6502	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35870639A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3544A>G	1.37:g.35870639A>G	ENSP00000322915:p.Ile1182Val		Somatic				ZMYM4_uc009vuu.3_Missense_Mutation_p.I1150V|ZMYM4_uc001byu.3_Missense_Mutation_p.I858V|ZMYM4_uc009vuv.3_Missense_Mutation_p.I921V	p.I1182V	NM_005095	NP_005086	WXS	Illumina GAIIx	Phase_I	Q5VZL5	ZMYM4_HUMAN			23	3624	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1182					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.3544A>G	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.795|2.795	-0.250370|-0.250370	0.05867|0.05867	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.20881|.	2.06;2.04|.	5.95|5.95	-4.38|-4.38	0.03622|0.03622	.|.	0.640981|.	0.17170|.	N|.	0.184319|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.10874|0.10874	0.06|0.06	0.23769|0.23769	N|N	0.996891|0.996891	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.07644|.	T|.	0.81|.	-1.0674|-1.0674	10.2779|10.2779	0.43521|0.43521	0.4378:0.1001:0.4621:0.0|0.4378:0.1001:0.4621:0.0	.|.	1182|.	Q5VZL5|.	ZMYM4_HUMAN|.	V|C	1182;1093|840	ENSP00000322915:I1182V;ENSP00000362394:I1093V|.	ENSP00000322915:I1182V|.	I|Y	+|+	1|2	0|0	ZMYM4|ZMYM4	35643226|35643226	0.861000|0.861000	0.29849|0.29849	0.839000|0.839000	0.33178|0.33178	0.996000|0.996000	0.88848|0.88848	0.316000|0.316000	0.19469|0.19469	-1.133000|-1.133000	0.02903|0.02903	-0.274000|-0.274000	0.10170|0.10170	ATA|TAT		0.413	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	112	0	0	0	1	0	7	112					G	35870639	A	G	35870639	3	3	202	1	0	0	0	0	1	0	0	0	17699	449	16	3	3638	3	ZMYM4	1	35870639	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08	2747607	35870639	213379982	3	3630											
LIPT1	51601	broad.mit.edu	37	2	99778836	99778836	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:99778836C>G	ENST00000393473.2	+	3	640	c.416C>G	c.(415-417)gCt>gGt	p.A139G	LIPT1_ENST00000340066.1_Missense_Mutation_p.A139G|LIPT1_ENST00000393471.2_Missense_Mutation_p.A139G|LIPT1_ENST00000393474.3_Missense_Mutation_p.A139G|LIPT1_ENST00000393477.3_Missense_Mutation_p.A139G|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	139	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GCTCTGAATGCTGTCCAACCC	0.383																																					GBM(84;665 1268 21657 25485 30647)	uc002szp.4																			0				large_intestine(6)|lung(1)	7						c.(538-540)gCt>gGt		Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	Lipoic Acid(DB00166)						71	67	68					2																	99778836		2203	4300	6503	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778836C>G	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.416C>G	2.37:g.99778836C>G	ENSP00000377115:p.Ala139Gly		Somatic				MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.A139G|LIPT1_uc002szn.4_Missense_Mutation_p.A139G|LIPT1_uc002szo.4_Missense_Mutation_p.A139G|LIPT1_uc002szq.4_Missense_Mutation_p.A139G|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.A139G|LIPT1_uc021vlo.1_Missense_Mutation_p.A139G|LIPT1_uc021vlp.1_Missense_Mutation_p.A139G	p.A180G	NM_145199	NP_660200	WXS	Illumina GAIIx	Phase_I	Q9Y234	LIPT_HUMAN			2	577	+			139					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.539C>G	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134937	0.21123	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000434566	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.07	5.07	0.68467	Biotin/lipoate A/B protein ligase (1);	0.315864	0.32473	N	0.006045	D	0.89476	0.6726	N	0.20328	0.56	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.84650	0.0700	10	0.26408	T	0.33	-12.0282	17.6112	0.88054	0.0:1.0:0.0:0.0	.	139	Q9Y234	LIPT_HUMAN	G	139	ENSP00000377115:A139G;ENSP00000377118:A139G;ENSP00000377116:A139G;ENSP00000342071:A139G;ENSP00000377114:A139G;ENSP00000393591:A139G	ENSP00000342071:A139G	A	+	2	0	LIPT1	99145268	0.016000	0.18221	0.830000	0.32933	0.998000	0.95712	1.516000	0.35856	2.635000	0.89317	0.650000	0.86243	GCT		0.383	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		5	76	0	0	0	1	0	5	76					G	99778836	C	G	99778836	3	3	202	1	0	0	0	0	1	0	0	0	8829	797	28	4	418	4	LIPT1	2	99778836	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		99778836	143420537	4	3631											
DDX18	8886	broad.mit.edu	37	2	118583110	118583110	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:118583110G>A	ENST00000263239.2	+	10	1584	c.1456G>A	c.(1456-1458)Gcg>Acg	p.A486T		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	486	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGTGGCAGCGAGAGGACT	0.433																																						uc002tlh.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1456-1458)Gcg>Acg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.							126	112	117					2																	118583110		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118583110G>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1456G>A	2.37:g.118583110G>A	ENSP00000263239:p.Ala486Thr		Somatic					p.A486T	NM_006773	NP_006764	WXS	Illumina GAIIx	Phase_I	Q9NVP1	DDX18_HUMAN			9	1555	+			486			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1456G>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328985	0.81690	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.05649	3.41;3.41	4.72	4.72	0.59763	Helicase, C-terminal (3);	0.098051	0.64402	N	0.000001	T	0.35828	0.0945	H	0.94503	3.545	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.53330	-0.8454	10	0.87932	D	0	-0.0311	18.2335	0.89942	0.0:0.0:1.0:0.0	.	486	Q9NVP1	DDX18_HUMAN	T	486;225;150	ENSP00000263239:A486T;ENSP00000415604:A150T	ENSP00000263239:A486T	A	+	1	0	DDX18	118299580	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.297000	0.96120	2.628000	0.89032	0.650000	0.86243	GCG		0.433	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		3	131	0	0	0	1	0	3	131					A	118583110	G	A	118583110	3	1	202	1	0	0	0	0	1	0	0	0	4345	971	34	2	1494	2	DDX18	2	118583110	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	18804274	118583110	124616263	5	3632											
ABI2	10152	broad.mit.edu	37	2	204259430	204259430	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:204259430T>C	ENST00000422511.2	+	6	617	c.586T>C	c.(586-588)Tcc>Ccc	p.S196P	ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.S190P|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261016.6_Missense_Mutation_p.S145P|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000295851.5_Missense_Mutation_p.S196P|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.S190P			Q9NYB9	ABI2_HUMAN	abl-interactor 2	196	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGGCGGCACTCCCCCTATCG	0.473																																						uc002vaa.3																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(586-588)Tcc>Ccc		Homo sapiens abl-interactor 2 (ABI2), mRNA.							109	101	103					2																	204259430		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding	g.chr2:204259430T>C	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.586T>C	2.37:g.204259430T>C	ENSP00000396249:p.Ser196Pro		Somatic				ABI2_uc010zig.1_Intron|ABI2_uc010zij.2_Missense_Mutation_p.S134P|ABI2_uc002uzz.3_Missense_Mutation_p.S190P|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Missense_Mutation_p.S190P|ABI2_uc002vab.3_Missense_Mutation_p.S145P|ABI2_uc010zik.2_Intron|ABI2_uc010zil.2_Missense_Mutation_p.S31P|ABI2_uc010zim.2_Intron|ABI2_uc002vac.3_Intron|ABI2_uc010zin.2_5'UTR	p.S196P	NM_005759	NP_005750	WXS	Illumina GAIIx	Phase_I	Q9NYB9	ABI2_HUMAN			5	821	+			196			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.586T>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.217353	0.79352	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.86	5.86	0.93980	.	0.048494	0.85682	D	0.000000	D	0.92756	0.7697	L	0.33485	1.01	0.80722	D	1	D;D;D;P;D;P	0.67145	0.963;0.984;0.994;0.949;0.996;0.841	P;P;P;P;P;P	0.59889	0.61;0.811;0.865;0.743;0.806;0.791	D	0.93759	0.7065	10	0.87932	D	0	-7.5122	16.2652	0.82574	0.0:0.0:0.0:1.0	.	31;134;190;145;196;190	B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;ABI2_HUMAN;.	P	196;190;190;145;196;196	ENSP00000295851:S196P;ENSP00000261017:S190P;ENSP00000391433:S190P;ENSP00000261016:S145P;ENSP00000414703:S196P;ENSP00000396249:S196P	ENSP00000261016:S145P	S	+	1	0	ABI2	203967675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.029000	0.70895	2.241000	0.73720	0.528000	0.53228	TCC		0.473	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		3	190	0	0	0	1	0	3	190					C	204259430	T	C	204259430	3	2	202	1	0	0	0	0	1	0	0	0	89	1551	54	3	586	3	ABI2	2	204259430	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	85676320	204259430	38939943	6	3633											
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5932-5934)Gac>Cac		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42	47	45					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His		Somatic				SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	p.D1978H	NM_198056	NP_932173	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	5984	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	74	0	0	0	1	0	3	74					G	38591931	C	G	38591931	3	3	202	1	0	0	0	0	1	0	0	0	13922	826	29	4	122	4	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		38591931	159430499	7	3634											
ERC2	26059	broad.mit.edu	37	3	56468821	56468821	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:56468821G>A	ENST00000288221.6	-	2	470	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAGGTTGTTGAAGCCACCCC	0.507																																						uc021wzo.1																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(214-216)tCa>tTa		Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.							176	170	172					3																	56468821		2023	4180	6203	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468821G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.215C>T	3.37:g.56468821G>A	ENSP00000288221:p.Ser72Leu		Somatic				ERC2_uc003dhr.1_Missense_Mutation_p.S72L	p.S72L	NM_015576	NP_056391	WXS	Illumina GAIIx	Phase_I	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	0	355	-			72					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.215C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211190	0.95069	.	.	ENSG00000187672	ENST00000288221	T	0.42513	0.97	5.76	5.76	0.90799	.	0.058312	0.64402	D	0.000001	T	0.54078	0.1836	L	0.34521	1.04	0.58432	D	0.999996	D	0.54601	0.967	P	0.60789	0.879	T	0.54470	-0.8289	10	0.72032	D	0.01	-13.3325	19.9759	0.97304	0.0:0.0:1.0:0.0	.	72	O15083	ERC2_HUMAN	L	72	ENSP00000288221:S72L	ENSP00000288221:S72L	S	-	2	0	ERC2	56443861	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	TCA		0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		4	215	0	0	0	1	0	4	215					A	56468821	G	A	56468821	3	1	202	1	0	0	0	0	1	0	0	0	5211	1294	45	2	2712	2	ERC2	3	56468821	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	17876890	56468821	141553609	8	3635											
GPR78	27201	broad.mit.edu	37	4	8588779	8588779	+	Splice_Site	SNP	A	A	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr4:8588779A>T	ENST00000382487.4	+	3	1199		c.e3-1		GPR78_ENST00000509216.1_Splice_Site	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78						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						CTTCCCCAACAGGCTGGCGGA	0.627																																						uc003glk.3																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.e3-2		Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.							28	30	29					4																	8588779		2200	4291	6491	SO:0001630	splice_region_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588779A>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.783-1A>T	4.37:g.8588779A>T			Somatic				GPR78_uc021xlj.1_Splice_Site|CPZ_uc003gll.3_Intron	p.R261_splice	NM_080819	NP_543009	WXS	Illumina GAIIx	Phase_I	Q96P69	GPR78_HUMAN			3	1276	+			261					Q8NGV3	Splice_Site	SNP	ENST00000382487.4	37	c.783_splice	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675786	0.29783	.	.	ENSG00000155269	ENST00000382487	.	.	.	3.32	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3914	0.26911	0.8911:0.0:0.1089:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR78	8639679	1.000000	0.71417	0.006000	0.13384	0.012000	0.07955	4.058000	0.57463	0.215000	0.20761	0.482000	0.46254	.		0.627	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		Intron	34	63	0	0	0	1	0	34	63					T	8588779	A	T	8588779	5	4	202	1	0	0	0	0	0	0	1	0	6710	202	7	5	791	5	GPR78	4	8588779	Splice_Site	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		8588779	182565497	9	3636											
EGFLAM	133584	broad.mit.edu	37	5	38352357	38352357	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:38352357G>A	ENST00000354891.3	+	5	815	c.469G>A	c.(469-471)Gag>Aag	p.E157K	EGFLAM_ENST00000322350.5_Missense_Mutation_p.E157K	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	157	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCGGATTCTGAGGTGGCCCT	0.507																																					Colon(62;485 1295 3347 17454)	uc003jlc.2																			0		p.E157D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(469-471)Gag>Aag		Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.							135	131	132					5																	38352357		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38352357G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.469G>A	5.37:g.38352357G>A	ENSP00000346964:p.Glu157Lys		Somatic				EGFLAM_uc003jlb.2_Missense_Mutation_p.E157K	p.E157K	NM_001205301	NP_001192230	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			4	815	+	all_lung(31;0.000385)		157			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.469G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365170	0.82463	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.56941	0.43;0.43	4.73	3.86	0.44501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.56396	1.775	0.80722	D	1	P;P	0.42556	0.783;0.57	P;B	0.44518	0.452;0.252	T	0.53613	-0.8414	10	0.72032	D	0.01	-11.1467	8.6955	0.34293	0.1056:0.0:0.8944:0.0	.	157;157	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	K	157	ENSP00000346964:E157K;ENSP00000313084:E157K	ENSP00000313084:E157K	E	+	1	0	EGFLAM	38388114	1.000000	0.71417	0.983000	0.44433	0.893000	0.52053	4.117000	0.57877	0.988000	0.38734	0.563000	0.77884	GAG		0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		18	188	0	0	0	1	0	18	188					A	38352357	G	A	38352357	3	1	202	1	0	0	0	0	1	0	0	0	4966	1291	45	2	487	2	EGFLAM	5	38352357	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		38352357	142562903	10	3637											
DOCK2	1794	broad.mit.edu	37	5	169494626	169494626	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:169494626T>A	ENST00000256935.8	+	45	4660	c.4580T>A	c.(4579-4581)cTc>cAc	p.L1527H	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1019H|DOCK2_ENST00000540750.1_Missense_Mutation_p.L588H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1527	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L1527H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCAACCCACTCTCCATGCTC	0.522																																						uc003maf.3																			1	Substitution - Missense(1)	p.L1527H(2)	kidney(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4579-4581)cTc>cAc		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							178	163	168					5																	169494626		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	g.chr5:169494626T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4580T>A	5.37:g.169494626T>A	ENSP00000256935:p.Leu1527His		Somatic				DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.L1019H|DOCK2_uc003mah.3_Missense_Mutation_p.L83H	p.L1527H	NM_004946	NP_004937	WXS	Illumina GAIIx	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		44	4660	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1527			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4580T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354110	0.82243	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.37411	1.2;1.2;1.2	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.69958	0.3169	H	0.94542	3.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80004	-0.1564	10	0.87932	D	0	.	14.6914	0.69087	0.0:0.0:0.0:1.0	.	1019;83;1527	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	H	1527;1019;588	ENSP00000256935:L1527H;ENSP00000429283:L1019H;ENSP00000438827:L588H	ENSP00000256935:L1527H	L	+	2	0	DOCK2	169427204	1.000000	0.71417	0.151000	0.22473	0.863000	0.49368	7.993000	0.88291	1.933000	0.56026	0.460000	0.39030	CTC		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		4	127	0	0	0	1	0	4	127					A	169494626	T	A	169494626	3	1	202	1	0	0	0	0	1	0	0	0	4687	1551	54	5	4758	5	DOCK2	5	169494626	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	131142269	169494626	11420634	11	3638											
IRF4	3662	broad.mit.edu	37	6	407546	407546	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:407546G>A	ENST00000380956.4	+	9	1430	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	435					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAACACATCAGCAATCCAGAA	0.353			T	IGH@	MM																																	uc003msz.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1303-1305)aGc>aAc		Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.							94	93	93					6																	407546		2203	4300	6503	SO:0001583	missense	3662				T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407546G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1304G>A	6.37:g.407546G>A	ENSP00000370343:p.Ser435Asn		Somatic				IRF4_uc003mtb.4_Missense_Mutation_p.S434N|IRF4_uc021ykl.1_Missense_Mutation_p.S281N|IRF4_uc003mta.4_Non-coding_Transcript	p.S435N	NM_002460	NP_002451	WXS	Illumina GAIIx	Phase_I	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	8	1430	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	435					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.1304G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	6.450	0.451122	0.12223	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96232	-3.95	5.51	3.67	0.42095	SMAD domain-like (1);SMAD/FHA domain (1);	1.013590	0.07857	N	0.965575	D	0.88407	0.6428	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.81360	-0.0968	10	0.49607	T	0.09	-17.2981	15.3401	0.74290	0.0:0.3953:0.6047:0.0	.	434;435	Q15306-2;Q15306	.;IRF4_HUMAN	N	435;464	ENSP00000370343:S435N	ENSP00000370343:S435N	S	+	2	0	IRF4	352546	0.021000	0.18746	0.595000	0.28798	0.361000	0.29550	0.691000	0.25467	1.311000	0.45024	0.655000	0.94253	AGC		0.353	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			3	67	0	0	0	1	0	3	67					A	407546	G	A	407546	3	1	202	1	0	0	0	0	1	0	0	0	7832	971	34	2	1334	2	IRF4	6	407546	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		407546	170707521	12	3639											
MLLT4	4301	broad.mit.edu	37	6	168352394	168352394	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:168352394C>G	ENST00000447894.2	+	29	4339	c.4339C>G	c.(4339-4341)Cag>Gag	p.Q1447E	MLLT4_ENST00000344191.4_Missense_Mutation_p.Q1447E|MLLT4_ENST00000392108.3_Missense_Mutation_p.Q1447E|MLLT4_ENST00000366806.2_Missense_Mutation_p.Q1447E|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q1430E|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q1454E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q1446E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1447					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCGCACTCAGTCCTTAAA	0.577			T	MLL	AL																																	uc021zik.1				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4216-4218)Cag>Gag		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.							130	118	122					6																	168352394		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352394C>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4339C>G	6.37:g.168352394C>G	ENSP00000404595:p.Gln1447Glu		Somatic				MLLT4_uc003qwb.1_Missense_Mutation_p.Q1431E|MLLT4_uc003qwc.2_Missense_Mutation_p.Q1447E|MLLT4_uc021zij.1_Missense_Mutation_p.Q1430E|MLLT4_uc021zim.1_Missense_Mutation_p.Q993E|MLLT4_uc003qwg.1_Missense_Mutation_p.Q756E	p.Q1406E	NM_001040000	NP_001035089	WXS	Illumina GAIIx	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	28	4535	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1447					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4216C>G		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508735	0.27036	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04706	3.76;3.72;3.77;3.8;3.57;3.71;3.71	5.39	5.39	0.77823	.	0.361992	0.29431	N	0.012172	T	0.02533	0.0077	L	0.51422	1.61	0.26362	N	0.977024	P;P;P;P	0.42692	0.495;0.787;0.571;0.571	B;B;B;B	0.41691	0.115;0.364;0.163;0.163	T	0.49283	-0.8956	10	0.06236	T	0.91	-4.5856	19.1739	0.93594	0.0:1.0:0.0:0.0	.	1447;1446;1447;1431	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	E	1447;1454;1447;1447;1430;1447;1446;1447	ENSP00000341118:Q1447E;ENSP00000252692:Q1454E;ENSP00000375956:Q1447E;ENSP00000355771:Q1447E;ENSP00000375960:Q1430E;ENSP00000383623:Q1446E;ENSP00000404595:Q1447E	ENSP00000345834:Q1447E	Q	+	1	0	MLLT4	168095243	0.962000	0.33011	0.019000	0.16419	0.434000	0.31775	5.899000	0.69846	2.526000	0.85167	0.561000	0.74099	CAG		0.577	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		17	263	0	0	0	1	0	17	263					G	168352394	C	G	168352394	3	3	202	1	0	0	0	0	1	0	0	0	9629	827	29	4	4453	4	MLLT4	6	168352394	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	167944848	168352394	2762673	13	3640											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	45	0	0	0	1	0	31	45					T	140453136	A	T	140453136	3	4	202	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		140453136	18685527	14	3641											
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr		Somatic				DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	p.S741T	NM_182643	NP_872584	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			8	2666	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	98	0	0	0	1	0	3	98					G	12957624	C	G	12957624	3	3	202	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		12957624	133406398	15	3642											
TBC1D2	55357	broad.mit.edu	37	9	101017574	101017574	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:101017574C>G	ENST00000375064.1	-	1	288	c.250G>C	c.(250-252)Gct>Cct	p.A84P	TBC1D2_ENST00000375066.5_Missense_Mutation_p.A84P|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	84	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCATCCTGAGCGGTCCGCGAG	0.542																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(250-252)Gct>Cct		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							81	82	82					9																	101017574		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017574C>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.250G>C	9.37:g.101017574C>G	ENSP00000364205:p.Ala84Pro		Somatic				TBC1D2_uc004ayq.3_Missense_Mutation_p.A84P|TBC1D2_uc004ayr.3_5'UTR	p.A84P	NM_018421	NP_060891	WXS	Illumina GAIIx	Phase_I	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	0	430	-		Myeloproliferative disorder(762;0.0255)	84			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.250G>C		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006448	0.35415	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.75154	-0.91;-0.91	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.066669	0.64402	D	0.000017	T	0.53110	0.1776	N	0.02854	-0.475	0.80722	D	1	B;B	0.25521	0.078;0.128	B;B	0.30495	0.054;0.116	T	0.53563	-0.8421	10	0.20046	T	0.44	.	14.9553	0.71107	0.0:1.0:0.0:0.0	.	84;84	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	P	84	ENSP00000364205:A84P;ENSP00000364207:A84P	ENSP00000364205:A84P	A	-	1	0	TBC1D2	100057395	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	4.089000	0.57685	2.596000	0.87737	0.462000	0.41574	GCT		0.542	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		7	97	0	0	0	1	0	7	97					G	101017574	C	G	101017574	3	3	202	1	0	0	0	0	1	0	0	0	15605	768	27	4	2555	4	TBC1D2	9	101017574	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		101017574	40195857	16	3643											
DPP7	29952	broad.mit.edu	37	9	140006389	140006389	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:140006389G>A	ENST00000371579.2	-	10	1147	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	381						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TGTCCAGGCAGTACCGCTGGC	0.657																																						uc004clh.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(1141-1143)taC>taT		Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.							66	76	72					9																	140006389		2203	4300	6503	SO:0001819	synonymous_variant	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140006389G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1143C>T	9.37:g.140006389G>A			Somatic					p.Y381Y	NM_013379	NP_037511	WXS	Illumina GAIIx	Phase_I	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	9	1173	-	all_cancers(76;0.0926)		381					A8K7U7|Q5VSF1|Q969X4	Silent	SNP	ENST00000371579.2	37	c.1143C>T	CCDS7030.1																																																																																				0.657	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		3	78	0	0	0	1	0	3	78					A	140006389	G	A	140006389	2	1	202	1	0	0	0	0	0	0	0	1	4731	1024	36	2		2	DPP7	9	140006389	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	38988815	140006389	1207042	17	3644											
GPAM	57678	broad.mit.edu	37	10	113920471	113920471	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:113920471G>A	ENST00000348367.4	-	16	1847	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	GPAM_ENST00000369425.1_Silent_p.S550S|GPAM_ENST00000423155.1_Silent_p.S550S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	550					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATCGTTCCTGCTAGTGTGGG	0.458																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.2																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1648-1650)agC>agT		Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							153	125	135					10																	113920471		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113920471G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1650C>T	10.37:g.113920471G>A			Somatic				GPAM_uc001kzp.3_Silent_p.S550S|GPAM_uc001kzq.1_Silent_p.S550S	p.S550S	NM_020918	NP_065969	WXS	Illumina GAIIx	Phase_I	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	15	1860	-			550					Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.1650C>T	CCDS7570.1																																																																																				0.458	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		38	51	0	0	0	1	0	38	51					A	113920471	G	A	113920471	2	1	202	1	0	0	0	0	0	0	0	1	6588	1310	46	2		2	GPAM	10	113920471	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		113920471	21614276	18	3645											
C10orf90	118611	broad.mit.edu	37	10	128193188	128193188	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:128193188G>A	ENST00000284694.7	-	3	701	c.581C>T	c.(580-582)gCc>gTc	p.A194V	C10orf90_ENST00000544758.1_Missense_Mutation_p.A291V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.A147V|C10orf90_ENST00000392694.1_Missense_Mutation_p.A147V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A194V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	194	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGTGCAGGCAAAAGATCT	0.612											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010qum.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(871-873)gCc>gTc		Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.							60	66	64					10																	128193188		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193188G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.581C>T	10.37:g.128193188G>A	ENSP00000284694:p.Ala194Val		Somatic	OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.3_Missense_Mutation_p.A147V|C10orf90_uc001ljq.3_Missense_Mutation_p.A194V|C10orf90_uc009yao.2_Missense_Mutation_p.A291V|C10orf90_uc001ljs.1_Missense_Mutation_p.A147V	p.A291V	NM_001004298	NP_001004298	WXS	Illumina GAIIx	Phase_I	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	902	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	194					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.872C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932709	0.52866	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23552	2.22;2.22;2.21;2.22;1.9	4.74	-4.35	0.03656	.	2.384410	0.01288	N	0.009928	T	0.18635	0.0447	L	0.36672	1.1	0.09310	N	1	P;P;P;B;B	0.43352	0.804;0.804;0.804;0.418;0.007	B;B;B;B;B	0.38225	0.268;0.268;0.194;0.173;0.005	T	0.37126	-0.9719	10	0.62326	D	0.03	2.1478	5.2111	0.15316	0.076:0.418:0.2943:0.2117	.	291;291;147;194;194	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	V	147;194;194;291;194;147;147	ENSP00000284694:A194V;ENSP00000398786:A194V;ENSP00000444369:A291V;ENSP00000405995:A194V;ENSP00000376459:A147V	ENSP00000284694:A194V	A	-	2	0	C10orf90	128183178	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.445000	0.06845	-0.369000	0.08028	0.467000	0.42956	GCC		0.612	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		7	153	0	0	0	1	0	7	153					A	128193188	G	A	128193188	3	1	202	1	0	0	0	0	1	0	0	0	1623	1203	42	2	1546	2	C10orf90	10	128193188	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	14272717	128193188	7341559	19	3646											
SPRYD5	84767	broad.mit.edu	37	11	55659057	55659057	+	Silent	SNP	T	T	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:55659057T>C	ENST00000449290.2	+	7	1400	c.1308T>C	c.(1306-1308)aaT>aaC	p.N436N	TRIM51_ENST00000244891.3_Silent_p.N293N	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CCATCCCCAATTGCTCCTTCT	0.453																																						uc010rip.2																			0											c.(1306-1308)aaT>aaC		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							122	124	123					11																	55659057		2173	4219	6392	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55659057T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1308T>C	11.37:g.55659057T>C			Somatic				TRIM51_uc010riq.2_Silent_p.N293N	p.N436N	NM_032681	NP_116070	WXS	Illumina GAIIx	Phase_I	Q9BSJ1	SPRY5_HUMAN			6	1400	+			436			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1308T>C																																																																																					0.453	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		12	198	0	0	0	1	0	12	198					C	55659057	T	C	55659057	2	2	202	1	0	0	0	0	0	0	0	1	15110	1490	52	3		3	SPRYD5	11	55659057	Silent	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08		55659057	79347459	20	3647											
ZBTB3	79842	broad.mit.edu	37	11	62520401	62520401	+	Silent	SNP	G	G	A	rs185887296		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:62520401G>A	ENST00000394807.3	-	2	1011	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	296	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGAGATGGCAGTGGCTCCAAT	0.542													G|||	1	0.000199681	0	0	5008	,	,		21069	0.001		0	False		,,,				2504	0					uc001nuz.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(886-888)Ctg>Ttg		Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.							66	60	62					11																	62520401		2202	4299	6501	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520401G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.886C>T	11.37:g.62520401G>A			Somatic					p.L296L	NM_024784	NP_079060	WXS	Illumina GAIIx	Phase_I	Q9H5J0	ZBTB3_HUMAN			1	1008	-			296			Pro-rich.			Silent	SNP	ENST00000394807.3	37	c.886C>T	CCDS8034.1																																																																																				0.542	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		3	88	0	0	0	1	0	3	88					A	62520401	G	A	62520401	2	1	202	1	0	0	0	0	0	0	0	1	17531	1020	36	2		2	ZBTB3	11	62520401	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	6861344	62520401	72486115	21	3648											
UBASH3B	84959	broad.mit.edu	37	11	122659906	122659906	+	Silent	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:122659906C>T	ENST00000284273.5	+	6	1245	c.870C>T	c.(868-870)agC>agT	p.S290S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	290	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCAGACCAGCACCAGCGAGG	0.532																																						uc001pyi.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(868-870)agC>agT		Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.							182	177	179					11																	122659906		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659906C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.870C>T	11.37:g.122659906C>T			Somatic					p.S290S	NM_032873	NP_116262	WXS	Illumina GAIIx	Phase_I	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	5	1230	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	290			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.870C>T	CCDS31694.1																																																																																				0.532	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		6	437	0	0	0	1	0	6	437					T	122659906	C	T	122659906	2	4	202	1	0	0	0	0	0	0	0	1	16837	709	25	2		2	UBASH3B	11	122659906	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	60139505	122659906	12346610	22	3649											
TMEM225	338661	broad.mit.edu	37	11	123753862	123753862	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:123753862C>T	ENST00000375026.2	-	4	877	c.661G>A	c.(661-663)Gta>Ata	p.V221I		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	221					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCCAGGTTACGTGACGTGTT	0.423																																						uc001pzi.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(661-663)Gta>Ata		Homo sapiens transmembrane protein 225 (TMEM225), mRNA.							172	158	163					11																	123753862		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753862C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.661G>A	11.37:g.123753862C>T	ENSP00000364166:p.Val221Ile		Somatic					p.V221I	NM_001013743	NP_001013765	WXS	Illumina GAIIx	Phase_I	Q6GV28	TM225_HUMAN			3	869	-			221						Missense_Mutation	SNP	ENST00000375026.2	37	c.661G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123100	0.56613	.	.	ENSG00000204300	ENST00000375026	T	0.35605	1.3	3.89	3.89	0.44902	.	0.000000	0.40908	D	0.000981	T	0.46210	0.1381	L	0.34521	1.04	0.22017	N	0.99942	D	0.89917	1.0	D	0.76575	0.988	T	0.21930	-1.0231	10	0.87932	D	0	-15.6406	11.6604	0.51343	0.0:1.0:0.0:0.0	.	221	Q6GV28	TM225_HUMAN	I	221	ENSP00000364166:V221I	ENSP00000364166:V221I	V	-	1	0	TMEM225	123259072	0.574000	0.26684	0.378000	0.26068	0.054000	0.15201	1.387000	0.34430	2.462000	0.83206	0.655000	0.94253	GTA		0.423	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		35	63	0	0	0	1	0	35	63					T	123753862	C	T	123753862	3	4	202	1	0	0	0	0	1	0	0	0	16144	536	19	1	20	1	TMEM225	11	123753862	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	1093956	123753862	11252654	23	3650											
CD163	9332	broad.mit.edu	37	12	7640590	7640590	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr12:7640590G>A	ENST00000359156.4	-	7	1716	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	CD163_ENST00000396620.3_Missense_Mutation_p.S505L|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.S505L|CD163_ENST00000541972.1_Missense_Mutation_p.S493L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	505	SRCR 5. {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)	p.S505*(1)		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)	AGAGAAGTCCGAATCACAGAT	0.537																																						uc001qsz.3																			1	Substitution - Nonsense(1)	p.S505*(2)	lung(1)	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.(1513-1515)tCg>tTg		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							75	64	68					12																	7640590		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640590G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1514C>T	12.37:g.7640590G>A	ENSP00000352071:p.Ser505Leu		Somatic				CD163_uc001qta.3_Missense_Mutation_p.S505L|CD163_uc009zfw.2_Missense_Mutation_p.S505L	p.S505L	NM_004244	NP_004235	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			6	1642	-			505			SRCR 5.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1514C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739029	0.30774	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.33	3.39	0.38822	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.547984	0.19113	N	0.122394	T	0.31358	0.0794	L	0.45051	1.395	0.09310	N	1	D;P;D	0.59357	0.985;0.951;0.969	P;B;P	0.50270	0.636;0.396;0.553	T	0.07214	-1.0784	10	0.26408	T	0.33	.	9.4667	0.38817	0.0844:0.1453:0.7702:0.0	.	505;505;505	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	L	505;493;505;505	ENSP00000352071:S505L;ENSP00000444071:S493L;ENSP00000379863:S505L;ENSP00000403885:S505L	ENSP00000352071:S505L	S	-	2	0	CD163	7531857	0.003000	0.15002	0.966000	0.40874	0.932000	0.56968	1.496000	0.35638	1.388000	0.46506	0.655000	0.94253	TCG		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		3	80	0	0	0	1	0	3	80					A	7640590	G	A	7640590	3	1	202	1	0	0	0	0	1	0	0	0	2967	1059	37	1	1996	1	CD163	12	7640590	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		7640590	126211305	24	3651											
LATS2	26524	broad.mit.edu	37	13	21562776	21562776	+	Silent	SNP	C	C	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:21562776C>A	ENST00000382592.4	-	4	1548	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	LATS2_ENST00000542899.1_Silent_p.L381L|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCGGCTTCTGCAGGGAGTCCC	0.701																																						uc009zzs.3																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1141-1143)ctG>ctT		Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.							10	14	12					13																	21562776		2117	4107	6224	SO:0001819	synonymous_variant	26524				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562776C>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1143G>T	13.37:g.21562776C>A			Somatic				LATS2_uc001unr.4_Silent_p.L381L	p.L381L	NM_014572	NP_055387	WXS	Illumina GAIIx	Phase_I	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	3	1508	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	381						Silent	SNP	ENST00000382592.4	37	c.1143G>T	CCDS9294.1																																																																																				0.701	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	39	0	0	0	1	0	3	39					A	21562776	C	A	21562776	2	1	202	1	0	0	0	0	0	0	0	1	8647	697	25	4		4	LATS2	13	21562776	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		21562776	93607102	25	3652											
FAM70B	348013	broad.mit.edu	37	13	114469169	114469169	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:114469169G>A	ENST00000375353.3	+	2	155	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	43						integral component of membrane (GO:0016021)											GTCACCGTCGGGCTGGCTGCC	0.652																																						uc001vuh.3																			0				upper_aerodigestive_tract(1)	1						c.(127-129)gGg>gAg		Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.							119	91	100					13																	114469169		2203	4300	6503	SO:0001583	missense	348013					integral to membrane		g.chr13:114469169G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.128G>A	13.37:g.114469169G>A	ENSP00000364502:p.Gly43Glu		Somatic				FAM70B_uc010tkh.2_Missense_Mutation_p.G43E	p.G43E	NM_182614	NP_872420	WXS	Illumina GAIIx	Phase_I	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		1	155	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	43						Missense_Mutation	SNP	ENST00000375353.3	37	c.128G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	g	16.98	3.271278	0.59649	.	.	ENSG00000184497	ENST00000375353	T	0.63913	-0.07	4.42	4.42	0.53409	.	.	.	.	.	T	0.80454	0.4626	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84433	0.0578	9	0.87932	D	0	-18.8846	15.8064	0.78517	0.0:0.0:1.0:0.0	.	43;43	B4DIK8;Q8WV15	.;FA70B_HUMAN	E	43	ENSP00000364502:G43E	ENSP00000364502:G43E	G	+	2	0	FAM70B	113644774	1.000000	0.71417	0.945000	0.38365	0.058000	0.15608	8.119000	0.89579	2.008000	0.58898	0.313000	0.20887	GGG		0.652	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		68	85	0	0	0	1	0	68	85					A	114469169	G	A	114469169	3	1	202	1	0	0	0	0	1	0	0	0	5606	1232	43	2	134	2	FAM70B	13	114469169	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	92906393	114469169	700709	26	3653											
RASGRP1	10125	broad.mit.edu	37	15	38810529	38810529	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:38810529T>G	ENST00000310803.5	-	5	662	c.485A>C	c.(484-486)gAg>gCg	p.E162A	RASGRP1_ENST00000450598.2_Missense_Mutation_p.E162A|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E114A|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E213A|RASGRP1_ENST00000559830.1_Missense_Mutation_p.E162A|RASGRP1_ENST00000558164.1_Missense_Mutation_p.E162A	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	162	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATGTAACTCCTCACCCTTAGC	0.443																																						uc001zke.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(484-486)gAg>gCg		Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.							112	105	107					15																	38810529		1954	4148	6102	SO:0001583	missense	10125				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38810529T>G	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.485A>C	15.37:g.38810529T>G	ENSP00000310244:p.Glu162Ala		Somatic				RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.E24A|RASGRP1_uc010bbg.3_Missense_Mutation_p.E24A|RASGRP1_uc001zkd.4_Missense_Mutation_p.E162A	p.E162A	NM_005739	NP_005730	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	4	663	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	162			N-terminal Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.485A>C	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193608	0.38707	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.03	5.03	0.67393	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.114035	0.64402	D	0.000012	T	0.30293	0.0760	L	0.54323	1.7	0.52099	D	0.999941	B;B;B;B	0.23650	0.089;0.002;0.004;0.003	B;B;B;B	0.20577	0.03;0.002;0.002;0.009	T	0.05733	-1.0867	10	0.27785	T	0.31	-17.2498	14.9193	0.70822	0.0:0.0:0.0:1.0	.	162;162;162;162	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	A	162;162;162;162;114;162;162	ENSP00000310244:E162A;ENSP00000388540:E162A;ENSP00000444762:E114A;ENSP00000413105:E162A	ENSP00000310244:E162A	E	-	2	0	RASGRP1	36597821	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	5.548000	0.67255	2.128000	0.65567	0.460000	0.39030	GAG		0.443	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		17	13	0	0	0	1	0	17	13					G	38810529	T	G	38810529	3	3	202	1	0	0	0	0	1	0	0	0	13074	1551	54	5	1960	5	RASGRP1	15	38810529	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08		38810529	63720863	27	3654											
C15orf27	123591	broad.mit.edu	37	15	76467946	76467946	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:76467946G>A	ENST00000388942.3	+	8	975	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	233					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTATCCAGCAGTACGAGAAGG	0.552																																						uc002bbq.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(697-699)caG>caA		Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.							132	109	117					15																	76467946		2197	4294	6491	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76467946G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.699G>A	15.37:g.76467946G>A			Somatic				C15orf27_uc010bkp.3_Silent_p.Q49Q|C15orf27_uc002bbr.3_Silent_p.Q49Q	p.Q233Q	NM_152335	NP_689548	WXS	Illumina GAIIx	Phase_I	Q2M3C6	CO027_HUMAN			7	854	+			233					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.699G>A	CCDS10289.2																																																																																				0.552	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		3	102	0	0	0	1	0	3	102					A	76467946	G	A	76467946	2	1	202	1	0	0	0	0	0	0	0	1	1788	1020	36	2		2	C15orf27	15	76467946	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	37657417	76467946	26063446	28	3655											
ITGAL	3683	broad.mit.edu	37	16	30507512	30507512	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr16:30507512G>A	ENST00000356798.6	+	14	1778	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	ITGAL_ENST00000358164.5_Missense_Mutation_p.G450D|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	533					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GACATCAACGGCGATGGGCTG	0.617																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.4																			0		p.N532K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1597-1599)gGc>gAc		Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	Efalizumab(DB00095)						88	97	94					16																	30507512		2197	4300	6497	SO:0001583	missense	3683				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30507512G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1598G>A	16.37:g.30507512G>A	ENSP00000349252:p.Gly533Asp		Somatic				ITGAL_uc002dyj.4_Missense_Mutation_p.G450D|ITGAL_uc010vev.2_Intron	p.G533D	NM_002209	NP_002200	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			13	1774	+			533					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1598G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778854	0.70107	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.86865	-2.18;-2.18	5.94	4.99	0.66335	.	0.102074	0.44097	D	0.000487	D	0.93403	0.7896	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93887	0.7176	10	0.66056	D	0.02	.	12.1137	0.53854	0.0798:0.0:0.9202:0.0	.	450;533	Q96HB1;P20701	.;ITAL_HUMAN	D	533;450	ENSP00000349252:G533D;ENSP00000350886:G450D	ENSP00000349252:G533D	G	+	2	0	ITGAL	30415013	1.000000	0.71417	0.878000	0.34440	0.369000	0.29798	4.742000	0.62103	1.522000	0.49001	0.563000	0.77884	GGC		0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			6	243	0	0	0	1	0	6	243					A	30507512	G	A	30507512	3	1	202	1	0	0	0	0	1	0	0	0	7886	1203	42	2	1652	2	ITGAL	16	30507512	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		30507512	59847241	29	3656											
ERBB2	2064	broad.mit.edu	37	17	37882044	37882044	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:37882044A>G	ENST00000269571.5	+	23	2969	c.2810A>G	c.(2809-2811)aAg>aGg	p.K937R	ERBB2_ENST00000445658.2_Missense_Mutation_p.K661R|ERBB2_ENST00000541774.1_Missense_Mutation_p.K922R|ERBB2_ENST00000406381.2_Missense_Mutation_p.K907R|ERBB2_ENST00000584601.1_Missense_Mutation_p.K907R|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.K907R|ERBB2_ENST00000584450.1_Missense_Mutation_p.K937R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	937	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGCTGGAAAAGGGGGAGCGG	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												uc002hso.3		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2809-2811)aAg>aGg		Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						69	64	66					17																	37882044		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882044A>G	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2810A>G	17.37:g.37882044A>G	ENSP00000269571:p.Lys937Arg	TCGA GBM(5;<1E-08)	Somatic				ERBB2_uc010cwa.3_Missense_Mutation_p.K922R|ERBB2_uc002hsm.3_Missense_Mutation_p.K907R|ERBB2_uc002hsp.3_Missense_Mutation_p.K740R|ERBB2_uc010cwb.3_Missense_Mutation_p.K937R|ERBB2_uc010wek.2_Missense_Mutation_p.K661R|MIR4728_uc021twt.1_5'Flank	p.K937R	NM_004448	NP_001005862	WXS	Illumina GAIIx	Phase_I	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	22	3048	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	937			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2810A>G	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193682	0.38707	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.53	5.53	0.82687	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74504	0.3725	N	0.21508	0.67	0.80722	D	1	B;P;B	0.41910	0.242;0.764;0.242	B;B;B	0.38655	0.172;0.278;0.172	T	0.78969	-0.1994	9	0.72032	D	0.01	.	15.33	0.74200	1.0:0.0:0.0:0.0	.	661;922;937	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	R	907;922;661;937;907	ENSP00000385185:K907R;ENSP00000446466:K922R;ENSP00000404047:K661R;ENSP00000269571:K937R;ENSP00000443562:K907R	ENSP00000269571:K937R	K	+	2	0	ERBB2	35135570	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.819000	0.62664	2.099000	0.63709	0.460000	0.39030	AAG		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			4	117	0	0	0	1	0	4	117					G	37882044	A	G	37882044	3	3	202	1	0	0	0	0	1	0	0	0	5206	72	3	3	2900	3	ERBB2	17	37882044	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08		37882044	43313166	30	3657											
BPTF	2186	broad.mit.edu	37	17	65871028	65871028	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:65871028G>C	ENST00000321892.4	+	4	1817	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	BPTF_ENST00000424123.3_Missense_Mutation_p.D447H|BPTF_ENST00000335221.5_Missense_Mutation_p.D586H|BPTF_ENST00000306378.6_Missense_Mutation_p.D586H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	586					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTGAGAATGACTCTAAAGA	0.373																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1756-1758)Gac>Cac		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							108	112	110					17																	65871028		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65871028G>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1756G>C	17.37:g.65871028G>C	ENSP00000315454:p.Asp586His		Somatic				BPTF_uc002jge.3_Missense_Mutation_p.D586H|BPTF_uc010wqm.1_Missense_Mutation_p.D586H	p.D586H	NM_182641	NP_872579	WXS	Illumina GAIIx	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1817	+	all_cancers(12;6e-11)		699					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1756G>C		.	.	.	.	.	.	.	.	.	.	G	2.854	-0.237615	0.05944	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.62788	0.02;-0.0;0.01	4.79	2.4	0.29515	.	.	.	.	.	T	0.49949	0.1587	N	0.22421	0.69	0.09310	N	1	B;B;P	0.44946	0.232;0.343;0.846	B;B;P	0.45610	0.134;0.281;0.487	T	0.37126	-0.9719	9	0.62326	D	0.03	-2.0596	6.5728	0.22549	0.5498:0.0:0.4502:0.0	.	586;586;586	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	H	491;586;586;586;447	ENSP00000307208:D586H;ENSP00000334351:D586H;ENSP00000315454:D586H	ENSP00000307208:D586H	D	+	1	0	BPTF	63301490	0.044000	0.20184	0.005000	0.12908	0.631000	0.37964	0.233000	0.17911	0.233000	0.21120	0.591000	0.81541	GAC		0.373	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	48	0	0	0	1	0	4	48					C	65871028	G	C	65871028	3	2	202	1	0	0	0	0	1	0	0	0	1495	1290	45	4	1770	4	BPTF	17	65871028	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	27988984	65871028	15324182	31	3658											
WDR7	23335	broad.mit.edu	37	18	54362346	54362346	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr18:54362346G>A	ENST00000254442.3	+	11	1485	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	WDR7_ENST00000357574.3_Missense_Mutation_p.R425H|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	425					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)		GTTTGTGGTCGTGAAGATGGA	0.448																																						uc002lgk.1																			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.(1273-1275)cGt>cAt		Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.							131	115	121					18																	54362346		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54362346G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1274G>A	18.37:g.54362346G>A	ENSP00000254442:p.Arg425His		Somatic				WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.R425H	p.R425H	NM_015285	NP_056100	WXS	Illumina GAIIx	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	10	1485	+			425					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1274G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310149	0.95629	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	D;D	0.94280	-3.39;-3.39	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.967;0.991	D	0.93562	0.6896	10	0.13470	T	0.59	.	19.0834	0.93192	0.0:0.0:1.0:0.0	.	425;425	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	H	425	ENSP00000254442:R425H;ENSP00000350187:R425H	ENSP00000254442:R425H	R	+	2	0	WDR7	52513344	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.473000	0.97714	2.680000	0.91292	0.585000	0.79938	CGT		0.448	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			3	104	0	0	0	1	0	3	104					A	54362346	G	A	54362346	3	1	202	1	0	0	0	0	1	0	0	0	17317	1145	40	1	1312	1	WDR7	18	54362346	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		54362346	23714902	32	3659											
NPHS1	4868	broad.mit.edu	37	19	36334403	36334403	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:36334403G>A	ENST00000378910.5	-	17	2304	c.2305C>T	c.(2305-2307)Ctc>Ttc	p.L769F	NPHS1_ENST00000353632.6_Missense_Mutation_p.L769F	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	769	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGCCCGGGAGGATGGGATTG	0.572																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2305-2307)Ctc>Ttc		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							141	130	134					19																	36334403		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334403G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2305C>T	19.37:g.36334403G>A	ENSP00000368190:p.Leu769Phe		Somatic					p.L769F	NM_004646	NP_004637	WXS	Illumina GAIIx	Phase_I	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		16	2461	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		769			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2305C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958926	0.53400	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.79033	-1.23;-1.23	5.04	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512331	0.19615	N	0.110043	D	0.83248	0.5213	L	0.46157	1.445	0.27239	N	0.959203	D	0.65815	0.995	D	0.65773	0.938	T	0.76572	-0.2910	10	0.56958	D	0.05	-19.9369	14.3119	0.66422	0.0:0.0:1.0:0.0	.	769	O60500	NPHN_HUMAN	F	769	ENSP00000368190:L769F;ENSP00000343634:L769F	ENSP00000343634:L769F	L	-	1	0	NPHS1	41026243	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	3.451000	0.52964	2.532000	0.85374	0.456000	0.33151	CTC		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	357	0	0	0	1	0	5	357					A	36334403	G	A	36334403	3	1	202	1	0	0	0	0	1	0	0	0	10582	1000	35	2	1472	2	NPHS1	19	36334403	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		36334403	22794580	33	3660											
DYRK1B	9149	broad.mit.edu	37	19	40318234	40318234	+	Silent	SNP	G	G	A	rs78838108	byFrequency	TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:40318234G>A	ENST00000593685.1	-	7	1338	c.870C>T	c.(868-870)taC>taT	p.Y290Y	DYRK1B_ENST00000348817.3_Silent_p.Y290Y|DYRK1B_ENST00000597639.1_Silent_p.Y290Y|DYRK1B_ENST00000323039.5_Silent_p.Y290Y|DYRK1B_ENST00000430012.2_Silent_p.Y290Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGGCCAGGTCGTAGGGTGTGC	0.597													G|||	5	0.000998403	0.0038	0	5008	,	,		17848	0		0	False		,,,				2504	0					uc002omj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(868-870)taC>taT		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.		G	,,	5,4401	11.4+/-27.6	0,5,2198	74	67	69		870,870,870	-7.1	0.9	19	dbSNP_131	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DYRK1B	NM_004714.1,NM_006483.1,NM_006484.1	,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,	290/630,290/590,290/602	40318234	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318234G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.870C>T	19.37:g.40318234G>A			Somatic				DYRK1B_uc002omi.3_Silent_p.Y290Y|DYRK1B_uc002omk.3_Silent_p.Y290Y	p.Y290Y	NM_004714	NP_004705	WXS	Illumina GAIIx	Phase_I	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1150	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		290			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.870C>T	CCDS12543.1																																																																																				0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	116	0	0	0	1	0	3	116					A	40318234	G	A	40318234	2	1	202	1	0	0	0	0	0	0	0	1	4855	1140	40	1		1	DYRK1B	19	40318234	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	3983831	40318234	18810749	34	3661											
SLC24A3	57419	broad.mit.edu	37	20	19677526	19677526	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:19677526G>T	ENST00000328041.6	+	14	1774	c.1577G>T	c.(1576-1578)tGc>tTc	p.C526F	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	526					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGCCTGACTGCATGGCCAGC	0.597																																						uc002wrl.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1576-1578)tGc>tTc		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.							89	73	79					20																	19677526		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19677526G>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1577G>T	20.37:g.19677526G>T	ENSP00000333519:p.Cys526Phe		Somatic					p.C526F	NM_020689	NP_065740	WXS	Illumina GAIIx	Phase_I	Q9HC58	NCKX3_HUMAN			13	1774	+			526					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1577G>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666702	0.88251	.	.	ENSG00000185052	ENST00000328041	T	0.61859	0.07	5.7	5.7	0.88788	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.66886	0.2835	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63319	-0.6664	9	.	.	.	.	18.6103	0.91283	0.0:0.0:1.0:0.0	.	526	Q9HC58	NCKX3_HUMAN	F	526	ENSP00000333519:C526F	.	C	+	2	0	SLC24A3	19625526	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.830000	0.99415	2.695000	0.91970	0.561000	0.74099	TGC		0.597	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		5	126	0	0	0	1	0	5	126					T	19677526	G	T	19677526	3	4	202	1	0	0	0	0	1	0	0	0	14467	1319	46	4	1631	4	SLC24A3	20	19677526	Missense_Mutation	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08		19677526	43347994	35	3662											
CDH22	64405	broad.mit.edu	37	20	44815233	44815233	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:44815233T>C	ENST00000372262.3	-	9	2057	c.1657A>G	c.(1657-1659)Atc>Gtc	p.I553V	CDH22_ENST00000537909.1_Missense_Mutation_p.I553V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCTTGGATGTCAAGCAGA	0.592																																						uc002xrm.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1657-1659)Atc>Gtc		Homo sapiens cadherin 22, type 2 (CDH22), mRNA.							86	82	84					20																	44815233		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815233T>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1657A>G	20.37:g.44815233T>C	ENSP00000361336:p.Ile553Val		Somatic				CDH22_uc010ghk.1_Missense_Mutation_p.I553V	p.I553V	NM_021248	NP_067071	WXS	Illumina GAIIx	Phase_I	Q9UJ99	CAD22_HUMAN			8	2056	-		Myeloproliferative disorder(115;0.0122)	553			Cadherin 5.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1657A>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758834	0.31137	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.58506	0.33;0.33	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.143219	0.46145	N	0.000314	T	0.27731	0.0682	N	0.02158	-0.66	0.24435	N	0.994557	B	0.02656	0.0	B	0.06405	0.002	T	0.10965	-1.0607	10	0.44086	T	0.13	.	7.0009	0.24809	0.0:0.1855:0.0:0.8145	.	553	Q9UJ99	CAD22_HUMAN	V	553	ENSP00000361336:I553V;ENSP00000437790:I553V	ENSP00000361336:I553V	I	-	1	0	CDH22	44248640	0.898000	0.30612	1.000000	0.80357	0.972000	0.66771	0.652000	0.24888	1.628000	0.50416	0.368000	0.22195	ATC		0.592	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		5	132	0	0	0	1	0	5	132					C	44815233	T	C	44815233	3	2	202	1	0	0	0	0	1	0	0	0	3107	1464	51	3	841	3	CDH22	20	44815233	Missense_Mutation	SNP	T	TCGA-EL-A3T3-01A-11D-A22D-08	25137707	44815233	18210287	36	3663											
DIDO1	11083	broad.mit.edu	37	20	61542301	61542301	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:61542301C>T	ENST00000266070.4	-	3	989	c.664G>A	c.(664-666)Gat>Aat	p.D222N	DIDO1_ENST00000370366.1_Missense_Mutation_p.D222N|DIDO1_ENST00000370368.1_Missense_Mutation_p.D222N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D222N|DIDO1_ENST00000354665.4_Missense_Mutation_p.D222N|DIDO1_ENST00000370371.4_Missense_Mutation_p.D222N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D222N|DIDO1_ENST00000266071.5_Missense_Mutation_p.D222N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D222N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	222					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)					ACCCCCTGATCGTTCTCGGGC	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			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.(664-666)Gat>Aat		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.							82	86	85					20																	61542301		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542301C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.664G>A	20.37:g.61542301C>T	ENSP00000266070:p.Asp222Asn		Somatic				DIDO1_uc002yds.2_Missense_Mutation_p.D222N|DIDO1_uc002ydt.2_Missense_Mutation_p.D222N|DIDO1_uc002ydu.2_Missense_Mutation_p.D222N|DIDO1_uc002ydv.2_Missense_Mutation_p.D222N|DIDO1_uc002ydw.2_Missense_Mutation_p.D222N|DIDO1_uc002ydx.2_Missense_Mutation_p.D222N|DIDO1_uc011aao.1_Missense_Mutation_p.D222N	p.D222N	NM_001193369	NP_149072	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			2	976	-	Breast(26;5.68e-08)		222					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.664G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501547	0.26861	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.17854	3.39;3.39;2.76;2.76;2.25;2.25;2.25;2.26;2.26	5.5	3.55	0.40652	.	0.973173	0.08356	U	0.958419	T	0.10594	0.0259	L	0.51422	1.61	0.09310	N	1	B;P;P;P	0.44006	0.145;0.813;0.813;0.824	B;B;B;B	0.22386	0.024;0.039;0.039;0.017	T	0.24764	-1.0151	10	0.14656	T	0.56	-0.4946	5.6085	0.17392	0.0:0.6236:0.1431:0.2333	.	222;222;222;222	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	N	222	ENSP00000266070:D222N;ENSP00000378752:D222N;ENSP00000378749:D222N;ENSP00000378744:D222N;ENSP00000359397:D222N;ENSP00000359394:D222N;ENSP00000346692:D222N;ENSP00000359391:D222N;ENSP00000266071:D222N	ENSP00000266070:D222N	D	-	1	0	DIDO1	61012746	0.012000	0.17670	0.028000	0.17463	0.126000	0.20510	0.505000	0.22642	0.664000	0.31047	0.561000	0.74099	GAT		0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	72	0	0	0	1	0	4	72					T	61542301	C	T	61542301	3	4	202	1	0	0	0	0	1	0	0	0	4522	884	31	1	6244	1	DIDO1	20	61542301	Missense_Mutation	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08	16727068	61542301	1483219	37	3664											
EDA	1896	broad.mit.edu	37	X	69253267	69253267	+	Silent	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:69253267C>T	ENST00000374552.4	+	7	1055	c.813C>T	c.(811-813)ctC>ctT	p.L271L	EDA_ENST00000374553.2_Silent_p.L271L|EDA_ENST00000524573.1_Silent_p.L268L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	271					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GTGGAGTGCTCAATGACTGGT	0.478											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dxs.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(811-813)ctC>ctT		Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.							170	152	158					X																	69253267		2203	4300	6503	SO:0001819	synonymous_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69253267C>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.813C>T	X.37:g.69253267C>T			Somatic	OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_uc011mpj.2_Silent_p.L268L|EDA_uc004dxr.3_Silent_p.L271L	p.L271L	NM_001399	NP_001390	WXS	Illumina GAIIx	Phase_I	Q92838	EDA_HUMAN			6	1055	+			271					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	37	c.813C>T	CCDS14394.1																																																																																				0.478	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		6	273	0	0	0	1	0	6	273					T	69253267	C	T	69253267	2	4	202	1	0	0	0	0	0	0	0	1	4903	813	29	2		2	EDA	23	69253267	Silent	SNP	C	TCGA-EL-A3T3-01A-11D-A22D-08		69253267	86017293	38	3665											
SYTL4	94121	broad.mit.edu	37	X	99942164	99942164	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:99942164A>G	ENST00000372989.1	-	13	1415	c.1084T>C	c.(1084-1086)Ttt>Ctt	p.F362L	SYTL4_ENST00000454200.2_Missense_Mutation_p.F364L|SYTL4_ENST00000276141.6_Missense_Mutation_p.F362L|SYTL4_ENST00000263033.5_Missense_Mutation_p.F362L|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000455616.1_Missense_Mutation_p.F362L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	362	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCAGGGAAAAGGCAATCCTG	0.502																																						uc004egd.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1084-1086)Ttt>Ctt		Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						102	81	88					X																	99942164		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding	g.chrX:99942164A>G		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1084T>C	X.37:g.99942164A>G	ENSP00000362080:p.Phe362Leu		Somatic				SYTL4_uc010nnb.3_Missense_Mutation_p.F34L|SYTL4_uc010nnc.3_Missense_Mutation_p.F362L|SYTL4_uc004ege.4_Missense_Mutation_p.F362L|SYTL4_uc004egf.4_Missense_Mutation_p.F362L|SYTL4_uc004egg.4_3'UTR	p.F362L	NM_080737	NP_542775	WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			12	1440	-			362			C2 1.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1084T>C	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	A	8.669	0.902470	0.17760	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	5.98	4.71	0.59529	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.043536	0.85682	D	0.000000	T	0.05914	0.0154	N	0.17674	0.51	0.58432	D	0.999999	B	0.24533	0.105	B	0.20384	0.029	T	0.41945	-0.9480	9	.	.	.	-17.0152	12.5658	0.56308	0.8651:0.0:0.0:0.1348	.	362	Q96C24	SYTL4_HUMAN	L	362;362;364;362;362	ENSP00000362080:F362L;ENSP00000390252:F362L;ENSP00000403556:F364L;ENSP00000276141:F362L;ENSP00000263033:F362L	.	F	-	1	0	SYTL4	99828820	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.054000	0.64275	2.021000	0.59480	0.481000	0.45027	TTT		0.502	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		3	114	0	0	0	1	0	3	114					G	99942164	A	G	99942164	3	3	202	1	0	0	0	0	1	0	0	0	15482	72	3	3	959	3	SYTL4	23	99942164	Missense_Mutation	SNP	A	TCGA-EL-A3T3-01A-11D-A22D-08	30688897	99942164	55328396	39	3666											
FLNA	2316	broad.mit.edu	37	X	153599581	153599581	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:153599581G>A	ENST00000369850.3	-	2	269	c.33C>T	c.(31-33)agC>agT	p.S11S	FLNA_ENST00000360319.4_Silent_p.S11S|FLNA_ENST00000422373.1_Silent_p.S11S|FLNA_ENST00000344736.4_Silent_p.S11S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	11	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CGCCTGCTGCGCTCTGGCCCG	0.701																																						uc004fkk.2																			0				breast(6)	6						c.(31-33)agC>agT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							6	7	7					X																	153599581		1896	3924	5820	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding	g.chrX:153599581G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.33C>T	X.37:g.153599581G>A			Somatic				FLNA_uc010nuu.1_Silent_p.S11S	p.S11S	NM_001110556	NP_001104026	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			1	282	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		11			Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.33C>T	CCDS48194.1																																																																																				0.701	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	2	0	0	0	1	0	4	2					A	153599581	G	A	153599581	2	1	202	1	0	0	0	0	0	0	0	1	5933	1078	38	1		1	FLNA	23	153599581	Silent	SNP	G	TCGA-EL-A3T3-01A-11D-A22D-08	53657417	153599581	1670979	40	3667											
PUM1	9698	broad.mit.edu	37	1	31532162	31532162	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr1:31532162G>C	ENST00000257075.5	-	2	345	c.252C>G	c.(250-252)ttC>ttG	p.F84L	PUM1_ENST00000424085.2_Missense_Mutation_p.F84L|PUM1_ENST00000426105.2_Missense_Mutation_p.F84L|PUM1_ENST00000373747.3_Missense_Mutation_p.F84L|PUM1_ENST00000440538.2_Missense_Mutation_p.F84L|PUM1_ENST00000423018.2_Missense_Mutation_p.F84L|PUM1_ENST00000373741.4_Missense_Mutation_p.F120L|PUM1_ENST00000373742.2_Missense_Mutation_p.F120L	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	84					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTCTGAAAGAAGTAGTCCA	0.542																																						uc001bsk.1																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(358-360)ttC>ttG		Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 1, mRNA.							100	92	95					1																	31532162		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31532162G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.252C>G	1.37:g.31532162G>C	ENSP00000257075:p.Phe84Leu		Somatic				PUM1_uc001bsh.1_Missense_Mutation_p.F84L|PUM1_uc001bsi.1_Missense_Mutation_p.F84L|PUM1_uc001bsj.1_Missense_Mutation_p.F84L|PUM1_uc010oga.1_Missense_Mutation_p.F84L|PUM1_uc010ogb.1_Missense_Mutation_p.F120L	p.F120L	NM_001020658	NP_001018494	WXS	Illumina GAIIx	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	1	491	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	84					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.360C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.322807|4.322807	0.81580|0.81580	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952;ENST00000531867|ENST00000525843	T;T;T;T;T;T;T;T|.	0.55234|.	0.69;2.35;2.61;2.62;2.56;2.6;0.94;0.53|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64951|0.64951	0.2645|0.2645	L|L	0.46157|0.46157	1.445|1.445	0.37086|0.37086	D|D	0.899234|0.899234	P;P;P;P;P;P|.	0.52577|.	0.924;0.924;0.924;0.954;0.924;0.924|.	P;P;P;D;P;P|.	0.63597|.	0.827;0.827;0.827;0.916;0.827;0.827|.	T|T	0.64871|0.64871	-0.6305|-0.6305	10|5	0.72032|.	D|.	0.01|.	-7.6818|-7.6818	18.9209|18.9209	0.92525|0.92525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	120;84;120;84;84;84|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0|.	.;.;.;.;PUM1_HUMAN;.|.	L|V	84;84;84;84;84;84;120;84;120;84;84|101	ENSP00000400141:F84L;ENSP00000257075:F84L;ENSP00000362852:F84L;ENSP00000391723:F84L;ENSP00000401777:F84L;ENSP00000362846:F120L;ENSP00000399440:F84L;ENSP00000362847:F120L|.	ENSP00000257075:F84L|.	F|L	-|-	3|1	2|0	PUM1|PUM1	31304749|31304749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.263000|9.263000	0.95617|0.95617	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.542	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			4	99	0	0	0	1	0	4	99					C	31532162	G	C	31532162	3	2	203	1	0	0	0	0	1	0	0	0	12825	933	33	4	3398	4	PUM1	1	31532162	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		31532162	217718459	1	3668											
USH2A	7399	broad.mit.edu	37	1	216390846	216390846	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr1:216390846A>G	ENST00000307340.3	-	15	3426	c.3040T>C	c.(3040-3042)Tgt>Cgt	p.C1014R	USH2A_ENST00000366943.2_Missense_Mutation_p.C1014R|USH2A_ENST00000366942.3_Missense_Mutation_p.C1014R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1014	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCAAGTGACAGGTTTCATTC	0.403										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3040-3042)Tgt>Cgt		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							83	76	78					1																	216390846		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216390846A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3040T>C	1.37:g.216390846A>G	ENSP00000305941:p.Cys1014Arg	HNSCC(13;0.011)	Somatic				USH2A_uc001hkv.3_Missense_Mutation_p.C1014R	p.C1014R	NM_206933	NP_996816	WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	14	3427	-			1014			Laminin EGF-like 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3040T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128720	0.77549	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.94330	-3.4;-3.4;-3.4	5.22	5.22	0.72569	EGF-like, laminin (3);	0.000000	0.44688	U	0.000421	D	0.98102	0.9374	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99643	1.0989	10	0.87932	D	0	.	15.1022	0.72288	1.0:0.0:0.0:0.0	.	1014;1014	O75445-2;O75445	.;USH2A_HUMAN	R	1014	ENSP00000305941:C1014R;ENSP00000355910:C1014R;ENSP00000355909:C1014R	ENSP00000305941:C1014R	C	-	1	0	USH2A	214457469	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.835000	0.69368	1.978000	0.57642	0.482000	0.46254	TGT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	37	0	0	0	1	0	16	37					G	216390846	A	G	216390846	3	3	203	1	0	0	0	0	1	0	0	0	17033	188	7	3	12814	3	USH2A	1	216390846	Missense_Mutation	SNP	A	TCGA-EL-A3T6-01A-11D-A21Z-08	184858684	216390846	32859775	2	3669											
PRDM8	56978	broad.mit.edu	37	4	81124557	81124557	+	Silent	SNP	C	C	T			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr4:81124557C>T	ENST00000504452.1	+	8	2780	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	PRDM8_ENST00000339711.4_Silent_p.H647H|PRDM8_ENST00000415738.2_Silent_p.H647H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	647					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						TGAGGTCGCACCACAAAAAGG	0.597																																						uc010ijo.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(1939-1941)caC>caT		Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.							36	41	39					4																	81124557		2173	4286	6459	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81124557C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1941C>T	4.37:g.81124557C>T			Somatic				PRDM8_uc003hmb.4_Silent_p.H647H|PRDM8_uc003hmc.4_Silent_p.H647H	p.H647H	NM_020226	NP_064611	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			7	2780	+			647					A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.1941C>T	CCDS43243.1																																																																																				0.597	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			13	26	0	0	0	1	0	13	26					T	81124557	C	T	81124557	2	4	203	1	0	0	0	0	0	0	0	1	12462	506	18	2		2	PRDM8	4	81124557	Silent	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		81124557	110029719	3	3670											
PCDHB10	56126	broad.mit.edu	37	5	140573713	140573713	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr5:140573713C>T	ENST00000239446.4	+	1	1772	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	530	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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.687																																						uc003lix.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1588-1590)Cgc>Tgc		Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.							71	89	83					5																	140573713		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573713C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1588C>T	5.37:g.140573713C>T	ENSP00000239446:p.Arg530Cys		Somatic					p.R530C	NM_018930	NP_061753	WXS	Illumina GAIIx	Phase_I	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1762	+			530			Cadherin 5.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1588C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.822001	0.32237	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.53	-1.09	0.09904	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05318	0.0141	L	0.55834	1.745	0.24359	N	0.994884	D	0.69078	0.997	D	0.65140	0.932	T	0.31943	-0.9925	9	0.52906	T	0.07	.	7.9219	0.29850	0.2181:0.429:0.3528:0.0	.	530	Q9UN67	PCDBA_HUMAN	C	530	ENSP00000239446:R530C	ENSP00000239446:R530C	R	+	1	0	PCDHB10	140553897	0.000000	0.05858	0.998000	0.56505	0.986000	0.74619	-2.949000	0.00679	-0.021000	0.14009	0.549000	0.68633	CGC		0.687	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		3	105	0	0	0	1	0	3	105					T	140573713	C	T	140573713	3	4	203	1	0	0	0	0	1	0	0	0	11535	652	23	1	1590	1	PCDHB10	5	140573713	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		140573713	40341547	4	3671											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	48	0	0	0	1	0	24	48					T	140453136	A	T	140453136	3	4	203	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T6-01A-11D-A21Z-08		140453136	18685527	5	3672											
DCAF12	25853	broad.mit.edu	37	9	34107509	34107509	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr9:34107509C>A	ENST00000361264.4	-	3	729	c.388G>T	c.(388-390)Gac>Tac	p.D130Y	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	130					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						GGCTCCCGGTCTTTCAGAATG	0.488																																						uc003ztt.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(388-390)Gac>Tac		Homo sapiens DDB1 and CUL4 associated factor 12 (DCAF12), mRNA.							94	93	93					9																	34107509		2203	4300	6503	SO:0001583	missense	25853					CUL4 RING ubiquitin ligase complex|centrosome		g.chr9:34107509C>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.388G>T	9.37:g.34107509C>A	ENSP00000355114:p.Asp130Tyr		Somatic					p.D130Y	NM_015397	NP_056212	WXS	Illumina GAIIx	Phase_I	Q5T6F0	DCA12_HUMAN			2	730	-			130					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.388G>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651678	0.88056	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.61510	0.1;0.1;0.1	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.73642	-0.3918	10	0.51188	T	0.08	-17.6937	16.7919	0.85591	0.0:1.0:0.0:0.0	.	130	Q5T6F0	DCA12_HUMAN	Y	130;112;109	ENSP00000355114:D130Y;ENSP00000380187:D112Y;ENSP00000415833:D109Y	ENSP00000355114:D130Y	D	-	1	0	DCAF12	34097509	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.287000	0.78681	2.631000	0.89168	0.655000	0.94253	GAC		0.488	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		12	57	0	0	0	1	0	12	57					A	34107509	C	A	34107509	3	1	203	1	0	0	0	0	1	0	0	0	4263	913	32	4	1001	4	DCAF12	9	34107509	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		34107509	107105922	6	3673											
SYT1	6857	broad.mit.edu	37	12	79747297	79747297	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr12:79747297G>A	ENST00000261205.4	+	9	1483	c.826G>A	c.(826-828)Gat>Aat	p.D276N	SYT1_ENST00000393240.3_Missense_Mutation_p.D276N|SYT1_ENST00000552744.1_Missense_Mutation_p.D276N|SYT1_ENST00000457153.2_Missense_Mutation_p.D273N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	276	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAATTGGGTGATATCTGCTT	0.363																																						uc001sys.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(826-828)Gat>Aat		Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.							186	176	179					12																	79747297		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79747297G>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.826G>A	12.37:g.79747297G>A	ENSP00000261205:p.Asp276Asn		Somatic				SYT1_uc001syt.3_Missense_Mutation_p.D276N|SYT1_uc001syu.3_Missense_Mutation_p.D273N|SYT1_uc001syv.3_Missense_Mutation_p.D276N	p.D276N	NM_001135805	NP_005630	WXS	Illumina GAIIx	Phase_I	P21579	SYT1_HUMAN			9	1497	+			276			Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.826G>A	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543864	0.96474	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	6.06	6.06	0.98353	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.93594	3.435	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.67725	0.953;0.953	D	0.90355	0.4369	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	276;276	Q6AI31;P21579	.;SYT1_HUMAN	N	276;276;273;276	ENSP00000376932:D276N;ENSP00000261205:D276N;ENSP00000391056:D273N;ENSP00000447575:D276N	ENSP00000261205:D276N	D	+	1	0	SYT1	78271428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GAT		0.363	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		5	149	0	0	0	1	0	5	149					A	79747297	G	A	79747297	3	1	203	1	0	0	0	0	1	0	0	0	15462	1290	45	2	848	2	SYT1	12	79747297	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		79747297	54104598	7	3674											
DYNC1H1	1778	broad.mit.edu	37	14	102466737	102466737	+	Splice_Site	SNP	G	G	T			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr14:102466737G>T	ENST00000360184.4	+	18	4238		c.e18+1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						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)	p.?(1)		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						GCCTCGAAAGGTATATCATGA	0.403																																						uc001yks.2																			1	Unknown(1)	p.?(1)	kidney(1)	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.e18+1		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							96	96	96					14																	102466737		2203	4300	6503	SO:0001630	splice_region_variant	1778				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102466737G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4074+1G>T	14.37:g.102466737G>T			Somatic					p.K1358_splice	NM_001376	NP_001367	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			18	4238	+			1358			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	c.4074_splice	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038429	0.93630	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101536490	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.805000	0.99149	2.820000	0.97059	0.650000	0.86243	.		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	12	27	0	0	0	1	0	12	27					T	102466737	G	T	102466737	5	4	203	1	0	0	0	0	0	0	1	0	4841	1275	44	4	4145	4	DYNC1H1	14	102466737	Splice_Site	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		102466737	4882803	8	3675											
NXN	64359	broad.mit.edu	37	17	726925	726925	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr17:726925C>T	ENST00000336868.3	-	3	650	c.559G>A	c.(559-561)Gag>Aag	p.E187K	NXN_ENST00000575801.1_Missense_Mutation_p.E79K|NXN_ENST00000538650.1_5'Flank|NXN_ENST00000577098.1_5'UTR|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	187	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTGCTGCTCTCCAGAGACTGC	0.552																																						uc002fsa.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(559-561)Gag>Aag		Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.							64	61	62					17																	726925		2203	4300	6503	SO:0001583	missense	64359				Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:726925C>T		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.559G>A	17.37:g.726925C>T	ENSP00000337443:p.Glu187Lys		Somatic				NXN_uc002fsb.1_Missense_Mutation_p.E74K|NXN_uc010vqd.2_5'Flank|NXN_uc010vqe.2_Missense_Mutation_p.E79K	p.E187K	NM_022463	NP_071908	WXS	Illumina GAIIx	Phase_I	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	2	639	-			187			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.559G>A	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907391	0.72868	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	T	0.79749	-1.3	5.87	5.87	0.94306	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.130656	0.64402	D	0.000002	T	0.61060	0.2317	N	0.04297	-0.235	0.80722	D	1	B;P;P	0.43094	0.008;0.592;0.799	B;B;B	0.37601	0.011;0.254;0.152	T	0.64795	-0.6323	10	0.07644	T	0.81	-12.6467	19.5705	0.95413	0.0:1.0:0.0:0.0	.	79;74;187	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	K	187;79	ENSP00000337443:E187K	ENSP00000337443:E187K	E	-	1	0	NXN	673675	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.407000	0.80029	2.941000	0.99782	0.655000	0.94253	GAG		0.552	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			3	55	0	0	0	1	0	3	55					T	726925	C	T	726925	3	4	203	1	0	0	0	0	1	0	0	0	10787	864	30	2	772	2	NXN	17	726925	Missense_Mutation	SNP	C	TCGA-EL-A3T6-01A-11D-A21Z-08		726925	80468285	9	3676											
ADARB1	104	broad.mit.edu	37	21	46624644	46624644	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T6-01A-11D-A21Z-08	TCGA-EL-A3T6-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5140ce7c-fceb-49d3-9c00-5dcb081ca0c0	021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3	g.chr21:46624644G>C	ENST00000360697.3	+	8	1875	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	ADARB1_ENST00000389863.4_Missense_Mutation_p.L620F|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Missense_Mutation_p.L580F|ADARB1_ENST00000539173.1_Missense_Mutation_p.L620F			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	620	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ACAAGCCTTTGCTCAGTGGCA	0.488																																						uc002zgy.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1858-1860)ttG>ttC		Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.							101	86	91					21																	46624644		2203	4300	6503	SO:0001583	missense	104				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding	g.chr21:46624644G>C	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1860G>C	21.37:g.46624644G>C	ENSP00000353920:p.Leu620Phe		Somatic				ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.L580F|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.L580F|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Missense_Mutation_p.L620F|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	p.L620F	NM_015833	NP_056648	WXS	Illumina GAIIx	Phase_I	P78563	RED1_HUMAN		Colorectal(79;0.115)	9	2295	+			620			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.1860G>C	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576004	0.65878	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.01	2.0	0.26442	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	L	0.58925	1.835	0.80722	D	1	B;P;P;P	0.47962	0.213;0.892;0.731;0.903	B;P;B;P	0.52881	0.275;0.453;0.324;0.712	D	0.90956	0.4809	10	0.51188	T	0.08	-26.6987	4.8629	0.13592	0.172:0.3734:0.4546:0.0	.	620;580;608;620	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	F	620;620;620;580;620	ENSP00000441897:L620F;ENSP00000374513:L620F;ENSP00000015877:L580F;ENSP00000353920:L620F	ENSP00000015877:L580F	L	+	3	2	ADARB1	45449072	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.713000	0.37951	1.222000	0.43521	0.650000	0.86243	TTG		0.488	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		25	35	0	0	0	1	0	25	35					C	46624644	G	C	46624644	3	2	203	1	0	0	0	0	1	0	0	0	282	1310	46	4	1890	4	ADARB1	21	46624644	Missense_Mutation	SNP	G	TCGA-EL-A3T6-01A-11D-A21Z-08		46624644	1505251	10	3677											
ARHGEF10L	55160	broad.mit.edu	37	1	18014116	18014116	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:18014116G>T	ENST00000361221.3	+	27	3217	c.3058G>T	c.(3058-3060)Gtg>Ttg	p.V1020L	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V981L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V1015L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V723L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V793L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V981L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1020						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)		GACACACATGGTGAAGGCGGG	0.622																																						uc001ban.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.(3058-3060)Gtg>Ttg		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.							92	80	84					1																	18014116		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18014116G>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3058G>T	1.37:g.18014116G>T	ENSP00000355060:p.Val1020Leu		Somatic				ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V981L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V981L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V976L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.V781L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.V793L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.V723L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	p.V1020L	NM_018125	NP_060595	WXS	Illumina GAIIx	Phase_I	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)	26	3217	+		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)	1020					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3058G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158408	0.57368	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.62941	1.48;1.48;-0.01;1.48;1.48;1.48	4.8	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.206543	0.34986	N	0.003529	T	0.67239	0.2872	M	0.79926	2.475	0.41863	D	0.990233	P;P;P;B;P;P;P	0.44946	0.761;0.802;0.749;0.371;0.846;0.798;0.696	B;P;B;B;B;B;B	0.45343	0.21;0.477;0.318;0.153;0.379;0.409;0.232	T	0.73065	-0.4100	10	0.59425	D	0.04	-18.9479	11.0755	0.48030	0.0913:0.0:0.9087:0.0	.	793;1015;723;781;976;981;1020	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	L	1020;981;1015;981;793;793;723	ENSP00000355060:V1020L;ENSP00000399401:V981L;ENSP00000394621:V1015L;ENSP00000364564:V981L;ENSP00000364557:V793L;ENSP00000167825:V723L	ENSP00000167825:V723L	V	+	1	0	ARHGEF10L	17886703	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.190000	0.65104	2.203000	0.70933	0.561000	0.74099	GTG		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		38	39	0	0	0	1	0	38	39					T	18014116	G	T	18014116	3	4	204	1	0	0	0	0	1	0	0	0	895	1261	44	4	3160	4	ARHGEF10L	1	18014116	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		18014116	231236505	1	3678											
CSF3R	1441	broad.mit.edu	37	1	36941036	36941036	+	Silent	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:36941036G>A	ENST00000373106.1	-	4	850	c.303C>T	c.(301-303)tgC>tgT	p.C101C	CSF3R_ENST00000331941.5_Silent_p.C101C|CSF3R_ENST00000361632.4_Silent_p.C101C|CSF3R_ENST00000418048.2_Silent_p.C101C|CSF3R_ENST00000373103.1_Silent_p.C101C|CSF3R_ENST00000338937.5_Silent_p.C101C|CSF3R_ENST00000373104.1_Silent_p.C101C|CSF3R_ENST00000440588.2_Silent_p.C101C	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	101	Ig-like C2-type.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGTTCAGGCAGCAGGAGAGAA	0.607																																						uc001cax.2																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(301-303)tgC>tgT		Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA.	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						103	85	91					1																	36941036		2203	4300	6503	SO:0001819	synonymous_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36941036G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.303C>T	1.37:g.36941036G>A			Somatic				CSF3R_uc001cav.2_Silent_p.C101C|CSF3R_uc001caw.2_Silent_p.C101C	p.C101C	NM_156039	NP_724781	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			3	887	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	101			Ig-like C2-type.			Silent	SNP	ENST00000373106.1	37	c.303C>T	CCDS413.1																																																																																				0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		4	153	0	0	0	1	0	4	153					A	36941036	G	A	36941036	2	1	204	1	0	0	0	0	0	0	0	1	3937	963	34	2		2	CSF3R	1	36941036	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	18926920	36941036	212309585	2	3679											
GUK1	2987	broad.mit.edu	37	1	228335126	228335126	+	Missense_Mutation	SNP	G	G	A	rs200469661		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr1:228335126G>A	ENST00000366718.1	+	5	698	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366716.1_Missense_Mutation_p.V91M|GUK1_ENST00000391865.3_Missense_Mutation_p.V112M|GUK1_ENST00000366730.1_Missense_Mutation_p.V91M|GUK1_ENST00000366721.1_Missense_Mutation_p.V93M|GUK1_ENST00000366723.1_Missense_Mutation_p.V112M|GUK1_ENST00000366726.1_Missense_Mutation_p.V91M|GUK1_ENST00000366728.2_Missense_Mutation_p.V112M|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000366722.1_Missense_Mutation_p.V91M|GUK1_ENST00000312726.4_Missense_Mutation_p.V91M	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	91	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GGTGCAGGCCGTGCAGGCCAT	0.657													G|||	1	0.000199681	0	0	5008	,	,		16746	0.001		0	False		,,,				2504	0					uc021pkf.1																			0				endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9						c.(334-336)Gtg>Atg		Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.							85	76	79					1																	228335126		2203	4300	6503	SO:0001583	missense	2987				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity	g.chr1:228335126G>A	BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.271G>A	1.37:g.228335126G>A	ENSP00000355679:p.Val91Met		Somatic				GUK1_uc021pke.1_Missense_Mutation_p.V91M|GUK1_uc001hsj.3_Missense_Mutation_p.V31M|GUK1_uc001hsh.3_Missense_Mutation_p.V91M|GUK1_uc001hsi.3_Missense_Mutation_p.V112M|GUK1_uc010pvv.2_Missense_Mutation_p.V91M|GJC2_uc001hsk.3_5'Flank	p.V112M	NM_001242840	NP_001229769	WXS	Illumina GAIIx	Phase_I	Q16774	KGUA_HUMAN			4	409	+		Prostate(94;0.0405)	91			Guanylate kinase-like.		B1ANH1	Missense_Mutation	SNP	ENST00000366718.1	37	c.334G>A	CCDS1568.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.3	4.135296	0.77662	.	.	ENSG00000143774	ENST00000366730;ENST00000391865;ENST00000366726;ENST00000312726;ENST00000366728;ENST00000453943;ENST00000366723;ENST00000366722;ENST00000435153;ENST00000366721;ENST00000412265;ENST00000366718;ENST00000366716;ENST00000420445	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.96	4.96	0.65561	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.64260	1.97	0.48288	D	0.99962	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.70285	-0.4914	10	0.87932	D	0	.	18.0194	0.89251	0.0:0.0:1.0:0.0	.	112;91	B4E1H6;Q16774	.;KGUA_HUMAN	M	91;112;91;91;112;112;112;91;157;93;157;91;91;94	ENSP00000355691:V91M;ENSP00000375738:V112M;ENSP00000355687:V91M;ENSP00000317659:V91M;ENSP00000355689:V112M;ENSP00000401832:V112M;ENSP00000355684:V112M;ENSP00000355683:V91M;ENSP00000403664:V157M;ENSP00000355682:V93M;ENSP00000407604:V157M;ENSP00000355679:V91M;ENSP00000355677:V91M	ENSP00000317659:V91M	V	+	1	0	GUK1	226401749	1.000000	0.71417	0.909000	0.35828	0.774000	0.43823	3.492000	0.53259	2.570000	0.86706	0.557000	0.71058	GTG		0.657	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000095944.1	NM_000858		4	157	0	0	0	1	0	4	157					A	228335126	G	A	228335126	3	1	204	1	0	0	0	0	1	0	0	0	6900	1145	40	1	352	1	GUK1	1	228335126	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	191394090	228335126	20915495	3	3680											
PROM2	150696	broad.mit.edu	37	2	95947921	95947921	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr2:95947921G>A	ENST00000317620.9	+	14	1808	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	PROM2_ENST00000542147.1_Missense_Mutation_p.V559I|PROM2_ENST00000317668.4_Missense_Mutation_p.V559I|PROM2_ENST00000403131.2_Missense_Mutation_p.V559I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	559					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTCTGGACAGTCCTGCAGCT	0.617																																						uc002suk.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1675-1677)Gtc>Atc		Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.							55	49	51					2																	95947921		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947921G>A	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1675G>A	2.37:g.95947921G>A	ENSP00000318270:p.Val559Ile		Somatic				PROM2_uc002suh.2_Missense_Mutation_p.V559I|PROM2_uc002sui.3_Missense_Mutation_p.V559I|PROM2_uc002suj.3_Missense_Mutation_p.V213I|PROM2_uc002sul.3_Missense_Mutation_p.V85I|PROM2_uc002sum.3_Non-coding_Transcript	p.V559I	NM_001165977	NP_653308	WXS	Illumina GAIIx	Phase_I	Q8N271	PROM2_HUMAN			13	1808	+			559					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1675G>A	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484447	0.84854	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000016	T	0.68284	0.2984	M	0.79475	2.455	0.39874	D	0.973548	D	0.89917	1.0	D	0.91635	0.999	T	0.70648	-0.4814	10	0.42905	T	0.14	-33.9211	14.2782	0.66194	0.0:0.0:1.0:0.0	.	559	Q8N271	PROM2_HUMAN	I	559	ENSP00000385716:V559I;ENSP00000318520:V559I;ENSP00000318270:V559I;ENSP00000442542:V559I	ENSP00000318270:V559I	V	+	1	0	PROM2	95311648	0.980000	0.34600	0.938000	0.37757	0.990000	0.78478	2.330000	0.43885	2.434000	0.82447	0.561000	0.74099	GTC		0.617	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		3	51	0	0	0	1	0	3	51					A	95947921	G	A	95947921	3	1	204	1	0	0	0	0	1	0	0	0	12556	1029	36	2	1729	2	PROM2	2	95947921	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		95947921	147251452	4	3681											
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:113505224T>C	ENST00000273398.3	+	6	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L204P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						uc003eao.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)cTt>cCt		Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.							219	201	207					3																	113505224		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224T>C	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710T>C	3.37:g.113505224T>C	ENSP00000273398:p.Leu237Pro		Somatic				ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	p.L237P	NM_001690	NP_001681	WXS	Illumina GAIIx	Phase_I	P38606	VATA_HUMAN			5	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.710T>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972517	0.74246	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.84223	-1.82;-1.82	5.33	4.17	0.49024	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.94260	0.7501	10	0.87932	D	0	-16.1423	10.9912	0.47551	0.0:0.0737:0.0:0.9263	.	237	P38606	VATA_HUMAN	P	237;204	ENSP00000273398:L237P;ENSP00000439874:L204P	ENSP00000273398:L237P	L	+	2	0	ATP6V1A	114987914	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.484000	0.81180	0.873000	0.35799	-0.353000	0.07706	CTT		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		3	263	0	0	0	1	0	3	263					C	113505224	T	C	113505224	3	2	204	1	0	0	0	0	1	0	0	0	1177	1609	56	3	728	3	ATP6V1A	3	113505224	Missense_Mutation	SNP	T	TCGA-EL-A3T7-01A-11D-A22D-08		113505224	84517206	5	3682											
MAP3K13	9175	broad.mit.edu	37	3	185146741	185146741	+	Silent	SNP	C	C	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr3:185146741C>A	ENST00000265026.3	+	2	706	c.372C>A	c.(370-372)ggC>ggA	p.G124G	MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.G124G	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCAGGTCAGGCAGTGGCAGTG	0.488																																						uc010hyf.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(370-372)ggC>ggA		Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.							94	94	94					3																	185146741		2203	4300	6503	SO:0001819	synonymous_variant	9175				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	g.chr3:185146741C>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.372C>A	3.37:g.185146741C>A			Somatic				MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_Intron|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.G124G|MAP3K13_uc010hyg.3_5'UTR	p.G124G	NM_001242314	NP_001229243	WXS	Illumina GAIIx	Phase_I	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	663	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		124						Silent	SNP	ENST00000265026.3	37	c.372C>A	CCDS3270.1																																																																																				0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		3	102	0	0	0	1	0	3	102					A	185146741	C	A	185146741	2	1	204	1	0	0	0	0	0	0	0	1	9247	697	25	4		4	MAP3K13	3	185146741	Silent	SNP	C	TCGA-EL-A3T7-01A-11D-A22D-08	71641517	185146741	12875689	6	3683											
PCDHA1	56147	broad.mit.edu	37	5	140167696	140167696	+	Silent	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr5:140167696G>A	ENST00000504120.2	+	1	1821	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	PCDHA1_ENST00000378133.3_Silent_p.L607L|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	607	Cadherin 6. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGTGGCTGTCCTATGAAC	0.672																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1819-1821)ctG>ctA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							85	85	85					5																	140167696		2203	4299	6502	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167696G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1821G>A	5.37:g.140167696G>A			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.L607L	p.L607L	NM_018900	NP_061723	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1821	+			620			Cadherin 6.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1821G>A	CCDS54913.1																																																																																				0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	199	0	0	0	1	0	4	199					A	140167696	G	A	140167696	2	1	204	1	0	0	0	0	0	0	0	1	11519	1364	48	2		2	PCDHA1	5	140167696	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		140167696	40747564	7	3684											
BAG2	9532	broad.mit.edu	37	6	57037528	57037528	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:57037528C>G	ENST00000370693.5	+	1	405	c.33C>G	c.(31-33)aaC>aaG	p.N11K	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000590164.1_RNA|RP11-203B9.4_ENST00000588819.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592785.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000609545.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586234.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589312.1_RNA|RP11-203B9.4_ENST00000585414.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589394.1_RNA|BAG2_ENST00000545080.1_5'Flank|RP11-203B9.4_ENST00000586466.1_RNA	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	11					protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTAAAGCCAACGAGGGGCGCT	0.687																																						uc003pdr.3																			0				endometrium(1)|large_intestine(1)	2						c.(31-33)aaC>aaG		Homo sapiens BCL2-associated athanogene 2 (BAG2), mRNA.							33	29	30					6																	57037528		2200	4297	6497	SO:0001583	missense	9532				apoptosis|protein folding		protein binding	g.chr6:57037528C>G	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.33C>G	6.37:g.57037528C>G	ENSP00000359727:p.Asn11Lys		Somatic				BC032020_uc003pdq.1_5'Flank|BAG2_uc011dxo.2_5'Flank	p.N11K	NM_004282	NP_004273	WXS	Illumina GAIIx	Phase_I	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		0	425	+	Lung NSC(77;0.126)		11					B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	ENST00000370693.5	37	c.33C>G	CCDS4961.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100264	0.37048	.	.	ENSG00000112208	ENST00000370693	.	.	.	4.89	3.11	0.35812	.	0.146062	0.64402	D	0.000014	T	0.22742	0.0549	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.21759	-1.0236	9	0.06099	T	0.92	-8.6895	10.7814	0.46379	0.0:0.8417:0.0:0.1583	.	11	O95816	BAG2_HUMAN	K	11	.	ENSP00000359727:N11K	N	+	3	2	BAG2	57145487	1.000000	0.71417	0.896000	0.35187	0.841000	0.47740	0.956000	0.29202	0.471000	0.27319	0.467000	0.42956	AAC		0.687	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			6	5	0	0	0	1	0	6	5					G	57037528	C	G	57037528	3	3	204	1	0	0	0	0	1	0	0	0	1287	535	19	4	35	4	BAG2	6	57037528	Missense_Mutation	SNP	C	TCGA-EL-A3T7-01A-11D-A22D-08		57037528	114077539	8	3685											
RNF146	81847	broad.mit.edu	37	6	127608035	127608036	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr6:127608035_127608036GA>CT	ENST00000368314.1	+	3	701_702	c.277_278GA>CT	c.(277-279)GAa>CTa	p.E93L	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.E92L|RNF146_ENST00000309649.3_Missense_Mutation_p.E92L|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.E93L	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	93	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTCACCAGAAGAACTCAAGGCA	0.46																																						uc021zes.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(277-279)gaa>CTa		Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.																																				SO:0001583	missense	81847				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608035_127608036GA>CT	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	Exception_encountered	6.37:g.127608035_127608036delinsCT	ENSP00000357297:p.Glu93Leu		Somatic				RNF146_uc021zet.1_Missense_Mutation_p.E92L|RNF146_uc021zeu.1_Missense_Mutation_p.E92L|RNF146_uc021zev.1_Missense_Mutation_p.E92L|RNF146_uc021zew.1_Missense_Mutation_p.E93L|RNF146_uc003qat.3_Missense_Mutation_p.E92L|RNF146_uc021zex.1_Missense_Mutation_p.E92L|RNF146_uc003qaw.3_Missense_Mutation_p.E92L|RNF146_uc003qau.3_Missense_Mutation_p.E92L|RNF146_uc003qav.3_Missense_Mutation_p.E93L|RNF146_uc021zey.1_Missense_Mutation_p.E92L	p.E93L	NM_001242851	NP_001229780	WXS	Illumina GAIIx	Phase_I	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	2	413_414	+			93			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	DNP	ENST00000368314.1	37	c.277_278GA>CT	CCDS56449.1																																																																																				0.46	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		26	33	0	0	0	1	0	26	33					CT	127608036	GA	CT	127608035	3	2	204	1	0	0	0	0	1	0	0	0	13448	943	33	4	276	4	RNF146	6	127608035	Missense_Mutation	DNP	GA	TCGA-EL-A3T7-01A-11D-A22D-08	70570507	127608035	43507032	9	3686											
FAM40B	57464	broad.mit.edu	37	7	129102860	129102860	+	Silent	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:129102860G>A	ENST00000249344.2	+	14	1570	c.1530G>A	c.(1528-1530)ctG>ctA	p.L510L	STRIP2_ENST00000435494.2_Silent_p.L510L	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	510					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGGGAATGCTGTACAGCCTTC	0.507																																						uc011koy.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1528-1530)ctG>ctA		Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.							99	88	92					7																	129102860		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129102860G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1530G>A	7.37:g.129102860G>A			Somatic				FAM40B_uc003vow.3_Silent_p.L510L|FAM40B_uc011koz.2_Silent_p.L2L	p.L510L	NM_020704	NP_065755	WXS	Illumina GAIIx	Phase_I	Q9ULQ0	FA40B_HUMAN			13	1570	+			510					Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.1530G>A	CCDS34752.1																																																																																				0.507	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		4	83	0	0	0	1	0	4	83					A	129102860	G	A	129102860	2	1	204	1	0	0	0	0	0	0	0	1	5561	1364	48	2		2	FAM40B	7	129102860	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		129102860	30035803	10	3687											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		45	72	0	0	0	1	0	45	72					T	140453136	A	T	140453136	3	4	204	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T7-01A-11D-A22D-08	11350276	140453136	18685527	11	3688											
CD163	9332	broad.mit.edu	37	12	7649609	7649609	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr12:7649609G>A	ENST00000359156.4	-	5	1101	c.899C>T	c.(898-900)gCt>gTt	p.A300V	CD163_ENST00000541972.1_Missense_Mutation_p.A288V|CD163_ENST00000396620.3_Missense_Mutation_p.A300V|CD163_ENST00000432237.2_Missense_Mutation_p.A300V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	300	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)	TGCCACAGCAGCATCGTAACT	0.498																																						uc001qsz.3																			0		p.D299H(1)		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.(898-900)gCt>gTt		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							192	143	159					12																	7649609		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649609G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.899C>T	12.37:g.7649609G>A	ENSP00000352071:p.Ala300Val		Somatic				CD163_uc001qta.3_Missense_Mutation_p.A300V|CD163_uc009zfw.2_Missense_Mutation_p.A300V	p.A300V	NM_004244	NP_004235	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			4	1027	-			300			SRCR 3.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.899C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118289	0.56505	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.86	3.97	0.46021	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.075154	0.56097	D	0.000039	T	0.66771	0.2823	M	0.82056	2.57	0.46542	D	0.999099	D;P;D	0.89917	1.0;0.923;1.0	D;B;D	0.79784	0.993;0.397;0.993	T	0.67360	-0.5690	10	0.39692	T	0.17	.	11.2623	0.49091	0.0908:0.0:0.9092:0.0	.	300;300;300	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	300;288;300;300	ENSP00000352071:A300V;ENSP00000444071:A288V;ENSP00000379863:A300V;ENSP00000403885:A300V	ENSP00000352071:A300V	A	-	2	0	CD163	7540876	1.000000	0.71417	0.809000	0.32408	0.322000	0.28314	5.408000	0.66368	1.199000	0.43173	0.456000	0.33151	GCT		0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		3	129	0	0	0	1	0	3	129					A	7649609	G	A	7649609	3	1	204	1	0	0	0	0	1	0	0	0	2967	971	34	2	2619	2	CD163	12	7649609	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		7649609	126202286	12	3689											
SCAMP2	10066	broad.mit.edu	37	15	75137837	75137837	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:75137837G>A	ENST00000268099.9	-	8	941	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000569437.1_5'Flank|ULK3_ENST00000568667.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	278					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AAGACTGAGAGCACGGCACAG	0.562																																						uc002azb.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(832-834)Ctc>Ttc		Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.							137	119	125					15																	75137837		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75137837G>A	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.832C>T	15.37:g.75137837G>A	ENSP00000268099:p.Leu278Phe		Somatic				ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.L128F	p.L278F	NM_005697	NP_005688	WXS	Illumina GAIIx	Phase_I	O15127	SCAM2_HUMAN			7	906	-			278					B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.832C>T	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885225	0.51908	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.20200	2.09	4.91	4.91	0.64330	.	0.134025	0.52532	D	0.000080	T	0.18215	0.0437	L	0.38649	1.16	0.52099	D	0.999948	B;B	0.25007	0.02;0.116	B;B	0.33750	0.071;0.169	T	0.07083	-1.0791	10	0.17369	T	0.5	.	10.7117	0.45988	0.0871:0.0:0.9129:0.0	.	278;247	O15127;B3KU14	SCAM2_HUMAN;.	F	278;247	ENSP00000268099:L278F	ENSP00000268099:L278F	L	-	1	0	SCAMP2	72924890	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.866000	0.56040	2.273000	0.75805	0.585000	0.79938	CTC		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		4	283	0	0	0	1	0	4	283					A	75137837	G	A	75137837	3	1	204	1	0	0	0	0	1	0	0	0	13871	971	34	2	165	2	SCAMP2	15	75137837	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		75137837	27393555	13	3690											
VPS33B	26276	broad.mit.edu	37	15	91565471	91565471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr15:91565471delA	ENST00000333371.3	-	1	362	c.9delT	c.(7-9)tttfs	p.F3fs	AC068831.10_ENST00000557804.1_RNA|AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_5'UTR|AC068831.10_ENST00000417221.4_RNA|VPS33B_ENST00000535906.1_Frame_Shift_Del_p.F3fs	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	3					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCGATGGGGAAAAGCCATGG	0.652																																						uc002bqp.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(7-9)tttfs		Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.							17	15	16					15																	91565471		2187	4286	6473	SO:0001589	frameshift_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91565471delA	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.9delT	15.37:g.91565471delA	ENSP00000327650:p.Phe3fs		Somatic				VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Frame_Shift_Del_p.F3fs|AK055351_uc002bqr.2_5'Flank	p.F3fs	NM_018668	NP_061138	WXS	Illumina GAIIx	Phase_I	Q9H267	VP33B_HUMAN			0	363	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		3					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Frame_Shift_Del	DEL	ENST00000333371.3	37	c.9delT	CCDS10369.1																																																																																				0.652	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		2	4						2	4	---	---	---	---	-	91565471	A	-	91565471	7	5	204	1	0	1	0	1	0	0	0	0	17199	243	9	0	1936	0	VPS33B	15	91565471	Frame_Shift_Del	DEL	A	TCGA-EL-A3T7-01A-11D-A22D-08	16427634	91565471	10965921	14	3691											
JMJD5	79831	broad.mit.edu	37	16	27230341	27230341	+	Silent	SNP	G	G	A	rs549622164		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:27230341G>A	ENST00000286096.4	+	6	1076	c.903G>A	c.(901-903)gaG>gaA	p.E301E	KDM8_ENST00000441782.2_Silent_p.E339E|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000380948.2_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	301	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GCGATGGGGAGGAGGAGGAAA	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		17241	0		0	False		,,,				2504	0					uc010vcn.1																			0											c.(1015-1017)gaG>gaA		Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.							174	135	148					16																	27230341		2197	4300	6497	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27230341G>A	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.903G>A	16.37:g.27230341G>A			Somatic				KDM8_uc002doh.2_Silent_p.E301E|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript	p.E339E	NM_001145348	NP_079049	WXS	Illumina GAIIx	Phase_I	Q8N371	KDM8_HUMAN			5	1135	+			301			JmjC.		B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.1017G>A	CCDS10627.1																																																																																				0.582	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		4	139	0	0	0	1	0	4	139					A	27230341	G	A	27230341	2	1	204	1	0	0	0	0	0	0	0	1	7952	991	35	2		2	JMJD5	16	27230341	Silent	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		27230341	63124412	15	3692											
TPPP3	51673	broad.mit.edu	37	16	67424874	67424874	+	Silent	SNP	T	T	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr16:67424874T>A	ENST00000564104.1	-	1	982	c.141A>T	c.(139-141)ggA>ggT	p.G47G	TPPP3_ENST00000393957.2_Silent_p.G47G|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Silent_p.G47G|TPPP3_ENST00000562206.1_Silent_p.G47G			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	47					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCACGGACTTTCCGTCAGCCA	0.572																																						uc002esz.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(139-141)ggA>ggT		Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.							151	115	127					16																	67424874		2198	4300	6498	SO:0001819	synonymous_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424874T>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.141A>T	16.37:g.67424874T>A			Somatic				TPPP3_uc002etb.3_Silent_p.G47G|TPPP3_uc002eta.3_Silent_p.G47G|U1_uc021tkb.1_5'Flank	p.G47G	NM_016140	NP_057224	WXS	Illumina GAIIx	Phase_I	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	0	976	-		Ovarian(137;0.0563)	47					Q49AH9|Q9Y326|Q9Y6H0	Silent	SNP	ENST00000564104.1	37	c.141A>T	CCDS10835.1																																																																																				0.572	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		23	76	0	0	0	1	0	23	76					A	67424874	T	A	67424874	2	1	204	1	0	0	0	0	0	0	0	1	16412	1770	62	5		5	TPPP3	16	67424874	Silent	SNP	T	TCGA-EL-A3T7-01A-11D-A22D-08	40194533	67424874	22929879	16	3693											
SUPT6H	6830	broad.mit.edu	37	17	27020729	27020729	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:27020729G>C	ENST00000314616.6	+	28	3932	c.3649G>C	c.(3649-3651)Gac>Cac	p.D1217H	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D1217H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1217	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCACTTTGACAGCGGTTC	0.502																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3649-3651)Gac>Cac		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							117	103	108					17																	27020729		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	g.chr17:27020729G>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3649G>C	17.37:g.27020729G>C	ENSP00000319104:p.Asp1217His		Somatic				SUPT6H_uc002hby.3_Missense_Mutation_p.D1217H	p.D1217H	NM_003170	NP_003161	WXS	Illumina GAIIx	Phase_I	Q7KZ85	SPT6H_HUMAN			28	3841	+	Lung NSC(42;0.00431)		1217			S1 motif.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3649G>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856715	0.91433	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	M	0.73598	2.24	0.80722	D	1	D	0.58620	0.983	P	0.49085	0.6	T	0.76342	-0.2994	9	0.87932	D	0	-27.8683	20.0989	0.97860	0.0:0.0:1.0:0.0	.	1217	Q7KZ85	SPT6H_HUMAN	H	1217	.	ENSP00000319104:D1217H	D	+	1	0	SUPT6H	24044856	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.121000	0.94375	2.764000	0.94973	0.650000	0.86243	GAC		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		25	78	0	0	0	1	0	25	78					C	27020729	G	C	27020729	3	2	204	1	0	0	0	0	1	0	0	0	15397	1290	45	4	3755	4	SUPT6H	17	27020729	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		27020729	54174481	17	3694											
ACE	1636	broad.mit.edu	37	17	61566087	61566087	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr17:61566087G>A	ENST00000290866.4	+	16	2408	c.2384G>A	c.(2383-2385)gGg>gAg	p.G795E	ACE_ENST00000421982.2_Missense_Mutation_p.G105E|ACE_ENST00000413513.3_Missense_Mutation_p.G221E|ACE_ENST00000490216.2_Missense_Mutation_p.G221E|ACE_ENST00000428043.1_Missense_Mutation_p.G795E|ACE_ENST00000290863.6_Missense_Mutation_p.G221E|ACE_ENST00000577647.1_Missense_Mutation_p.G221E	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	795	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACAAGGCGGGGAGAGCCATC	0.557																																						uc002jau.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(2383-2385)gGg>gAg		Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						120	106	111					17																	61566087		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566087G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2384G>A	17.37:g.61566087G>A	ENSP00000290866:p.Gly795Glu		Somatic				ACE_uc010wpj.2_Missense_Mutation_p.G221E|ACE_uc010ddv.2_Missense_Mutation_p.G22E|ACE_uc002jav.2_Missense_Mutation_p.G221E|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.G105E	p.G795E	NM_000789	NP_000780	WXS	Illumina GAIIx	Phase_I	P12821	ACE_HUMAN			15	2418	+			795			Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2384G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864849	0.32977	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;1.18	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	H	0.97440	4.005	0.39222	D	0.963523	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.998;1.0	D	0.89300	0.3625	10	0.87932	D	0	-48.9288	18.5243	0.90965	0.0:0.0:1.0:0.0	.	105;221;221;795	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	E	795;795;221;221;105	ENSP00000290866:G795E;ENSP00000397593:G795E;ENSP00000290863:G221E;ENSP00000392247:G221E;ENSP00000387760:G105E	ENSP00000290863:G221E	G	+	2	0	ACE	58919819	1.000000	0.71417	0.971000	0.41717	0.014000	0.08584	8.234000	0.89801	2.815000	0.96918	0.561000	0.74099	GGG		0.557	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			3	148	0	0	0	1	0	3	148					A	61566087	G	A	61566087	3	1	204	1	0	0	0	0	1	0	0	0	136	1232	43	2	2649	2	ACE	17	61566087	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	34545358	61566087	19629123	18	3695											
CHAF1A	10036	broad.mit.edu	37	19	4433112	4433112	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:4433112G>A	ENST00000301280.5	+	13	2350	c.2249G>A	c.(2248-2250)aGc>aAc	p.S750N	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	750	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAACGGGAGCAAGGTCATC	0.667								Chromatin Structure																														uc002mal.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2248-2250)aGc>aAc	Chromatin Structure	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.							24	24	24					19																	4433112		2199	4299	6498	SO:0001583	missense	10036				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433112G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2249G>A	19.37:g.4433112G>A	ENSP00000301280:p.Ser750Asn		Somatic					p.S750N	NM_005483	NP_005474	WXS	Illumina GAIIx	Phase_I	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2349	+		Hepatocellular(1079;0.137)	750			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2249G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165949	0.78339	.	.	ENSG00000167670	ENST00000535117;ENST00000301280	T	0.30981	1.51	5.33	5.33	0.75918	.	.	.	.	.	T	0.38612	0.1047	L	0.55103	1.725	0.54753	D	0.999985	P	0.40660	0.726	B	0.43386	0.418	T	0.30851	-0.9964	9	0.87932	D	0	-38.5057	18.0297	0.89279	0.0:0.0:1.0:0.0	.	750	Q13111	CAF1A_HUMAN	N	750	ENSP00000301280:S750N	ENSP00000301280:S750N	S	+	2	0	CHAF1A	4384112	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.119000	0.71590	2.485000	0.83878	0.655000	0.94253	AGC		0.667	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		3	40	0	0	0	1	0	3	40					A	4433112	G	A	4433112	3	1	204	1	0	0	0	0	1	0	0	0	3311	971	34	2	2299	2	CHAF1A	19	4433112	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		4433112	54695871	19	3696											
SCN1B	6324	broad.mit.edu	37	19	35523482	35523482	+	Missense_Mutation	SNP	G	G	A	rs368129661		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:35523482G>A	ENST00000262631.5	+	2	228	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	SCN1B_ENST00000415950.3_Missense_Mutation_p.V31M|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.V31M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	31	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	GACCGAGGCCGTGTATGGGAT	0.622																																						uc002nxo.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(91-93)Gtg>Atg		Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	130	125	127		91,91	3.8	1.0	19		127	0,8600		0,0,4300	no	missense,missense	SCN1B	NM_001037.4,NM_199037.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	31/219,31/269	35523482	1,13005	2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35523482G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.91G>A	19.37:g.35523482G>A	ENSP00000262631:p.Val31Met		Somatic				SCN1B_uc002nxp.3_Missense_Mutation_p.V31M|SCN1B_uc010xsg.2_Missense_Mutation_p.V31M	p.V31M	NM_199037	NP_950238	WXS	Illumina GAIIx	Phase_I	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		1	224	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		31			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.91G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343136	0.61073	2.27E-4	0.0	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.94758	-3.51;-3.51	3.82	3.82	0.43975	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.95999	0.8697	M	0.62723	1.935	0.58432	D	0.999998	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.91635	0.927;0.988;0.999	D	0.95842	0.8867	10	0.72032	D	0.01	-29.9484	11.0836	0.48074	0.0:0.0:1.0:0.0	.	31;31;31	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	M	31	ENSP00000262631:V31M;ENSP00000396915:V31M	ENSP00000262631:V31M	V	+	1	0	SCN1B	40215322	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	8.413000	0.90235	1.969000	0.57287	0.563000	0.77884	GTG		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			4	201	0	0	0	1	0	4	201					A	35523482	G	A	35523482	3	1	204	1	0	0	0	0	1	0	0	0	13915	1145	40	1	97	1	SCN1B	19	35523482	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	31090370	35523482	23605501	20	3697											
PPP1R13L	10848	broad.mit.edu	37	19	45901354	45901354	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr19:45901354G>A	ENST00000418234.2	-	3	185	c.107C>T	c.(106-108)gCg>gTg	p.A36V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A36V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	36					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCTTGGCCGCCGCCGTGTC	0.652																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(106-108)gCg>gTg		Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.							55	55	55					19																	45901354		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45901354G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.107C>T	19.37:g.45901354G>A	ENSP00000403902:p.Ala36Val		Somatic				PPP1R13L_uc002pbo.3_Missense_Mutation_p.A36V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A36V	p.A36V	NM_006663	NP_006654	WXS	Illumina GAIIx	Phase_I	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	2	184	-		all_neural(266;0.224)|Ovarian(192;0.231)	36					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.107C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758763	0.69763	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58652	0.32;0.32	4.31	2.17	0.27698	.	0.549764	0.19686	N	0.108386	T	0.28333	0.0700	L	0.27053	0.805	0.26311	N	0.97782	P;B	0.45902	0.868;0.014	B;B	0.24269	0.052;0.002	T	0.21381	-1.0247	10	0.14252	T	0.57	.	6.6105	0.22749	0.2208:0.0:0.7792:0.0	.	36;36	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	V	36	ENSP00000403902:A36V;ENSP00000354218:A36V	ENSP00000354218:A36V	A	-	2	0	PPP1R13L	50593194	0.898000	0.30612	0.957000	0.39632	0.927000	0.56198	1.607000	0.36836	0.569000	0.29329	0.563000	0.77884	GCG		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		3	117	0	0	0	1	0	3	117					A	45901354	G	A	45901354	3	1	204	1	0	0	0	0	1	0	0	0	12358	1087	38	1	2423	1	PPP1R13L	19	45901354	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08	10377872	45901354	13227629	21	3698											
SGSM3	57591	broad.mit.edu	37	22	40805710	40805710	+	IGR	SNP	G	G	A	rs199770532		TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chr22:40805710G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.V733I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GAAGGAGGGCGTCCGGGACAT	0.662			T	RBM15	acute megakaryocytic leukemia																																	uc003ayu.1				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(2197-2199)Gtc>Atc		Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.			ILE/VAL	0,4406		0,0,2203	88	91	90		2197	4.8	0.8	22		90	2,8598	1.2+/-3.3	0,2,4298	yes	missense	SGSM3	NM_015705.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	733/750	40805710	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	27352				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40805710G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805710G>A			Somatic				SGSM3_uc011aot.1_Missense_Mutation_p.V644I	p.V733I	NM_015705	NP_056520	WXS	Illumina GAIIx	Phase_I	Q96HU1	SGSM3_HUMAN			21	2406	+			733					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2197G>A	CCDS14003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.10|16.10	3.028398|3.028398	0.54790|0.54790	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100359|ENSG00000100359	ENST00000417424|ENST00000248929	.|T	.|0.16597	.|2.33	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.996;0.996;0.979	.|P;P;P	.|0.60541	.|0.572;0.876;0.638	T|T	0.10823|0.10823	-1.0613|-1.0613	5|10	.|0.72032	.|D	.|0.01	.|.	18.3415|18.3415	0.90307|0.90307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|644;761;733	.|B4DVE3;Q96HU1-2;Q96HU1	.|.;.;SGSM3_HUMAN	H|I	85|733	.|ENSP00000248929:V733I	.|ENSP00000248929:V733I	R|V	+|+	2|1	0|0	SGSM3|SGSM3	39135656|39135656	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.141000|0.141000	0.21300|0.21300	7.138000|7.138000	0.77305|0.77305	2.410000|2.410000	0.81850|0.81850	0.558000|0.558000	0.71614|0.71614	CGT|GTC		0.662	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		4	169	0	0	0	1	0	4	169					A	40805710	G	A	40805710	1	1	204	0	1	0	0	0	0	0	0	0	14224	1145	40	1		1	SGSM3	22	40805710	IGR	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		40805710	10498856	22	3699											
SYTL4	94121	broad.mit.edu	37	X	99955909	99955909	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T7-01A-11D-A22D-08	TCGA-EL-A3T7-11A-21D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c40c7f60-923b-4cb0-85b9-677694924158	30302df7-048d-488b-a8e3-1f9549d4fccf	g.chrX:99955909G>A	ENST00000372989.1	-	7	854	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	SYTL4_ENST00000372981.1_Missense_Mutation_p.R175W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R175W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R175W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R175W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R175W	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TCCTTCTGCCGCTCCTGAATG	0.388																																						uc004egd.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(523-525)Cgg>Tgg		Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						130	117	121					X																	99955909		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding	g.chrX:99955909G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.523C>T	X.37:g.99955909G>A	ENSP00000362080:p.Arg175Trp		Somatic				SYTL4_uc010nnc.3_Missense_Mutation_p.R175W|SYTL4_uc004ege.4_Missense_Mutation_p.R175W|SYTL4_uc004egf.4_Missense_Mutation_p.R175W|SYTL4_uc004egg.4_Missense_Mutation_p.R175W	p.R175W	NM_080737	NP_542775	WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			6	879	-			175					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.523C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.682548	0.29872	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.64803	2.01;2.01;2.0;2.01;2.01;-0.12	5.78	5.78	0.91487	.	0.462954	0.25708	N	0.028821	T	0.57051	0.2027	N	0.14661	0.345	0.31079	N	0.712174	D;D	0.69078	0.997;0.971	P;B	0.52856	0.711;0.216	T	0.59883	-0.7370	9	.	.	.	-6.1752	16.7516	0.85488	0.0:0.0:1.0:0.0	.	175;175	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	175	ENSP00000362080:R175W;ENSP00000390252:R175W;ENSP00000403556:R175W;ENSP00000276141:R175W;ENSP00000263033:R175W;ENSP00000362072:R175W	.	R	-	1	2	SYTL4	99842565	0.997000	0.39634	0.703000	0.30354	0.009000	0.06853	4.136000	0.58004	2.432000	0.82394	0.591000	0.81541	CGG		0.388	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		17	206	0	0	0	1	0	17	206					A	99955909	G	A	99955909	3	1	204	1	0	0	0	0	1	0	0	0	15482	1086	38	1	1544	1	SYTL4	23	99955909	Missense_Mutation	SNP	G	TCGA-EL-A3T7-01A-11D-A22D-08		99955909	55314651	23	3700											
AGPS	8540	broad.mit.edu	37	2	178307134	178307134	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:178307134G>A	ENST00000264167.4	+	7	855		c.e7-1		AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TATTTTGGCAGGAGGAACAAG	0.333																																						uc002ull.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.e7-1		Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.							94	98	96					2																	178307134		2203	4300	6503	SO:0001630	splice_region_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178307134G>A	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.710-1G>A	2.37:g.178307134G>A			Somatic				AGPS_uc010zfb.1_Splice_Site_p.G147_splice	p.G237_splice	NM_003659	NP_003650	WXS	Illumina GAIIx	Phase_I	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		7	757	+			237			FAD-binding PCMH-type.		A5D8U9|Q2TU35	Splice_Site	SNP	ENST00000264167.4	37	c.710_splice	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390334	0.82902	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8327	0.96642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGPS	178015380	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.056000	0.89455	2.779000	0.95612	0.643000	0.83706	.		0.333	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		Intron	3	87	0	0	0	1	0	3	87					A	178307134	G	A	178307134	5	1	205	1	0	0	0	0	0	0	1	0	394	1014	35	2	735	2	AGPS	2	178307134	Splice_Site	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		178307134	64892239	1	3701											
FAM117B	150864	broad.mit.edu	37	2	203590986	203590986	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:203590986G>T	ENST00000392238.2	+	4	860	c.860G>T	c.(859-861)cGc>cTc	p.R287L	FAM117B_ENST00000303116.6_Missense_Mutation_p.R43L			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	287										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCAAAATTACGCCAGCAGTTG	0.393																																						uc010zhx.2																			0		p.K286*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(859-861)cGc>cTc		Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.							126	121	123					2																	203590986		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203590986G>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.860G>T	2.37:g.203590986G>T	ENSP00000376071:p.Arg287Leu		Somatic					p.R287L	NM_173511	NP_775782	WXS	Illumina GAIIx	Phase_I	Q6P1L5	F117B_HUMAN			3	870	+			287					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.860G>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038610	0.93630	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.71	5.71	0.89125	.	0.048721	0.85682	D	0.000000	T	0.78604	0.4309	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79271	-0.1872	9	0.72032	D	0.01	-11.0079	19.4656	0.94935	0.0:0.0:1.0:0.0	.	287	Q6P1L5	F117B_HUMAN	L	43;287	.	ENSP00000306299:R43L	R	+	2	0	FAM117B	203299231	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.451000	0.90343	2.691000	0.91804	0.563000	0.77884	CGC		0.393	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		4	95	0	0	0	1	0	4	95					T	203590986	G	T	203590986	3	4	205	1	0	0	0	0	1	0	0	0	5410	1087	38	4	874	4	FAM117B	2	203590986	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	25283852	203590986	39608387	2	3702											
ZDBF2	57683	broad.mit.edu	37	2	207169562	207169562	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr2:207169562G>A	ENST00000374423.3	+	5	696	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	104							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATGCTACCGAAGAGAGACC	0.458																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(310-312)Gaa>Aaa		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							84	81	82					2																	207169562		1969	4154	6123	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169562G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.310G>A	2.37:g.207169562G>A	ENSP00000363545:p.Glu104Lys		Somatic					p.E104K	NM_020923	NP_065974	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			4	560	+			104					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.310G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.932	0.740941	0.15642	.	.	ENSG00000204186	ENST00000374423	T	0.17370	2.28	4.68	2.72	0.32119	.	1.458410	0.04756	N	0.425444	T	0.06462	0.0166	N	0.14661	0.345	0.09310	N	1	P	0.45240	0.854	B	0.29524	0.103	T	0.11299	-1.0593	10	0.02654	T	1	.	5.1627	0.15070	0.1066:0.0:0.6893:0.204	.	104	Q9HCK1	ZDBF2_HUMAN	K	104	ENSP00000363545:E104K	ENSP00000363545:E104K	E	+	1	0	ZDBF2	206877807	0.023000	0.18921	0.002000	0.10522	0.002000	0.02628	0.663000	0.25053	1.110000	0.41699	0.650000	0.86243	GAA		0.458	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		17	30	0	0	0	1	0	17	30					A	207169562	G	A	207169562	3	1	205	1	0	0	0	0	1	0	0	0	17596	1059	37	1	320	1	ZDBF2	2	207169562	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	3578576	207169562	36029811	3	3703											
RBM28	55131	broad.mit.edu	37	7	127963614	127963614	+	Missense_Mutation	SNP	C	C	T	rs553213737	byFrequency	TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr7:127963614C>T	ENST00000223073.2	-	13	1484	c.1370G>A	c.(1369-1371)gGt>gAt	p.G457D	RBM28_ENST00000415472.2_Missense_Mutation_p.G316D|RBM28_ENST00000481788.1_5'Flank	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	457					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGCACTCACACCCTCTGCAGC	0.458													C|||	3	0.000599042	0	0	5008	,	,		23021	0		0	False		,,,				2504	0.0031					uc003vmp.2																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1369-1371)gGt>gAt		Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.							219	197	204					7																	127963614		2203	4300	6503	SO:0001583	missense	55131				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding	g.chr7:127963614C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1370G>A	7.37:g.127963614C>T	ENSP00000223073:p.Gly457Asp		Somatic				RBM28_uc011koj.1_Missense_Mutation_p.G316D	p.G457D	NM_018077	NP_060547	WXS	Illumina GAIIx	Phase_I	Q9NW13	RBM28_HUMAN			12	1485	-			457					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1370G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776431	0.90195	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.22134	2.9;1.97	5.93	5.93	0.95920	.	0.138154	0.64402	D	0.000003	T	0.45377	0.1339	M	0.63208	1.945	0.80722	D	1	B;D;B	0.89917	0.243;1.0;0.243	B;D;B	0.91635	0.341;0.999;0.168	T	0.06391	-1.0829	10	0.37606	T	0.19	-14.6238	17.8347	0.88692	0.0:1.0:0.0:0.0	.	316;457;316	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	D	457;316	ENSP00000223073:G457D;ENSP00000390517:G316D	ENSP00000223073:G457D	G	-	2	0	RBM28	127750850	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.476000	0.73587	2.814000	0.96858	0.655000	0.94253	GGT		0.458	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		6	140	0	0	0	1	0	6	140					T	127963614	C	T	127963614	3	4	205	1	0	0	0	0	1	0	0	0	13128	507	18	2	937	2	RBM28	7	127963614	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		127963614	31175049	4	3704											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	48	0	0	0	1	0	31	48					T	140453136	A	T	140453136	3	4	205	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3T8-01A-21D-A22D-08	12489522	140453136	18685527	5	3705											
ATP6V1C1	528	broad.mit.edu	37	8	104066176	104066176	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr8:104066176G>A	ENST00000395862.3	+	7	697	c.538G>A	c.(538-540)Gag>Aag	p.E180K	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.E180K|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.E105K|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.E105K	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	180					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TCTTGATTCAGAGTATCTCGT	0.308																																						uc003ykz.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(538-540)Gag>Aag		Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.							161	155	157					8																	104066176		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104066176G>A	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.538G>A	8.37:g.104066176G>A	ENSP00000379203:p.Glu180Lys		Somatic				ATP6V1C1_uc010mbz.3_Missense_Mutation_p.E105K|ATP6V1C1_uc003yla.3_Missense_Mutation_p.E180K|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.E105K	p.E180K	NM_001695	NP_001686	WXS	Illumina GAIIx	Phase_I	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		6	783	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		180						Missense_Mutation	SNP	ENST00000395862.3	37	c.538G>A	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755180	0.96898	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	H	0.97340	3.985	0.80722	D	1	D	0.54964	0.969	P	0.59595	0.86	D	0.89556	0.3803	10	0.87932	D	0	.	19.2989	0.94134	0.0:0.0:1.0:0.0	.	180	P21283	VATC1_HUMAN	K	105;180;105;180	ENSP00000428204:E105K;ENSP00000379203:E180K;ENSP00000430129:E105K;ENSP00000430282:E180K	ENSP00000379203:E180K	E	+	1	0	ATP6V1C1	104135352	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.001000	0.88508	2.563000	0.86464	0.655000	0.94253	GAG		0.308	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		7	82	0	0	0	1	0	7	82					A	104066176	G	A	104066176	3	1	205	1	0	0	0	0	1	0	0	0	1180	943	33	2	560	2	ATP6V1C1	8	104066176	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		104066176	42297846	6	3706											
SFMBT2	57713	broad.mit.edu	37	10	7242431	7242431	+	Silent	SNP	C	C	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr10:7242431C>A	ENST00000361972.4	-	14	1593	c.1503G>T	c.(1501-1503)gtG>gtT	p.V501V	SFMBT2_ENST00000397167.1_Silent_p.V501V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	501					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCTTAACAGGCACTGTGGGCG	0.438																																						uc009xio.2																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1501-1503)gtG>gtT		Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.							111	111	111					10																	7242431		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7242431C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1503G>T	10.37:g.7242431C>A			Somatic				SFMBT2_uc001ijn.2_Silent_p.V501V|SFMBT2_uc010qay.2_Intron	p.V501V	NM_001018039	NP_001018049	WXS	Illumina GAIIx	Phase_I	Q5VUG0	SMBT2_HUMAN			13	1594	-			501					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1503G>T	CCDS31138.1																																																																																				0.438	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		28	36	0	0	0	1	0	28	36					A	7242431	C	A	7242431	2	1	205	1	0	0	0	0	0	0	0	1	14158	697	25	4		4	SFMBT2	10	7242431	Silent	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		7242431	128292316	7	3707											
CDHR1	92211	broad.mit.edu	37	10	85972907	85972907	+	Missense_Mutation	SNP	G	G	C	rs144856473		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr10:85972907G>C	ENST00000372117.3	+	16	1946	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q	CDHR1_ENST00000332904.3_Missense_Mutation_p.E615Q|CDHR1_ENST00000440770.2_Missense_Mutation_p.E319Q	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	615	Cadherin 6. {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)	p.E615K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCCATGCAGAGCCCGCCAA	0.572																																						uc001kcv.3																			1	Substitution - Missense(1)	p.E615K(2)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1843-1845)Gag>Cag		Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.							121	107	112					10																	85972907		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972907G>C	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1843G>C	10.37:g.85972907G>C	ENSP00000361189:p.Glu615Gln		Somatic				CDHR1_uc001kcw.3_Missense_Mutation_p.E615Q|CDHR1_uc009xst.3_Missense_Mutation_p.E319Q|CDHR1_uc001kcx.3_5'UTR	p.E615Q	NM_033100	NP_149091	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			15	1948	+			615			Cadherin 6.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1843G>C	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184239	0.78677	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.54071	0.59;0.59;0.59	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.199139	0.52532	D	0.000071	T	0.56877	0.2015	N	0.17764	0.52	0.52501	D	0.999955	D;P;D	0.62365	0.991;0.82;0.99	P;P;D	0.63033	0.898;0.628;0.91	T	0.52449	-0.8574	10	0.30078	T	0.28	-28.6022	17.8347	0.88692	0.0:0.0:1.0:0.0	.	319;615;615	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	Q	615;615;319	ENSP00000331063:E615Q;ENSP00000361189:E615Q;ENSP00000415980:E319Q	ENSP00000331063:E615Q	E	+	1	0	CDHR1	85962887	1.000000	0.71417	0.980000	0.43619	0.588000	0.36517	9.326000	0.96389	2.814000	0.96858	0.655000	0.94253	GAG		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		7	128	0	0	0	1	0	7	128					C	85972907	G	C	85972907	3	2	205	1	0	0	0	0	1	0	0	0	3118	943	33	4	1905	4	CDHR1	10	85972907	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08	78730476	85972907	49561840	8	3708											
QSER1	79832	broad.mit.edu	37	11	32956671	32956671	+	Silent	SNP	G	G	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr11:32956671G>A	ENST00000399302.2	+	4	3815	c.3480G>A	c.(3478-3480)ggG>ggA	p.G1160G	QSER1_ENST00000527788.1_Silent_p.G921G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1160										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGAAATCCGGGCCCAAGCAGC	0.448																																						uc001mty.3																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3478-3480)ggG>ggA		Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.							80	80	80					11																	32956671		1869	4095	5964	SO:0001819	synonymous_variant	79832							g.chr11:32956671G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3480G>A	11.37:g.32956671G>A			Somatic				QSER1_uc001mtz.1_Silent_p.G921G|QSER1_uc001mua.3_Silent_p.G665G	p.G1160G	NM_001076786	NP_001070254	WXS	Illumina GAIIx	Phase_I	Q2KHR3	QSER1_HUMAN			3	3747	+	Breast(20;0.158)		1160					Q6ZU30|Q6ZUR5	Silent	SNP	ENST00000399302.2	37	c.3480G>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	5.667	0.307716	0.10733	.	.	ENSG00000060749	ENST00000524678	T	0.67865	-0.29	5.46	-1.42	0.08913	.	0.000000	0.64402	D	0.000001	T	0.61299	0.2336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57648	-0.7775	7	0.72032	D	0.01	.	1.2095	0.01902	0.3085:0.1078:0.364:0.2197	.	.	.	.	D	181	ENSP00000432136:G181D	ENSP00000432136:G181D	G	+	2	0	QSER1	32913247	0.292000	0.24362	0.998000	0.56505	0.987000	0.75469	-0.337000	0.07852	0.013000	0.14918	0.467000	0.42956	GGC		0.448	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		3	64	0	0	0	1	0	3	64					A	32956671	G	A	32956671	2	1	205	1	0	0	0	0	0	0	0	1	12882	1190	42	2		2	QSER1	11	32956671	Silent	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		32956671	102049845	9	3709											
MARS	4141	broad.mit.edu	37	12	57892382	57892382	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr12:57892382G>A	ENST00000262027.5	+	9	1201	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	MARS_ENST00000315473.5_Missense_Mutation_p.R122H|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	356					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ATTTTTGGTCGCACCACCACT	0.498																																						uc001sog.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1066-1068)cGc>cAc		Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	L-Methionine(DB00134)						174	151	159					12																	57892382		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57892382G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1067G>A	12.37:g.57892382G>A	ENSP00000262027:p.Arg356His		Somatic				MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.R229H|MARS_uc010srq.1_Missense_Mutation_p.R122H	p.R356H	NM_004990	NP_004981	WXS	Illumina GAIIx	Phase_I	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		8	1221	+			356					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1067G>A	CCDS8942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.951278|3.951278	0.73787|0.73787	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000552371|ENST00000262027;ENST00000315473	.|T;T	.|0.55588	.|0.99;0.51	4.86|4.86	4.86|4.86	0.63082|0.63082	.|Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.050938	.|0.85682	.|D	.|0.000000	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;0.995	.|D;D;D	.|0.70487	.|0.969;0.931;0.968	D|D	0.83958|0.83958	0.0320|0.0320	5|10	.|0.87932	.|D	.|0	-10.8416|-10.8416	17.1304|17.1304	0.86725|0.86725	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|122;229;356	.|A6NC17;B4E0E9;P56192	.|.;.;SYMC_HUMAN	T|H	189|356;122	.|ENSP00000262027:R356H;ENSP00000314653:R122H	.|ENSP00000262027:R356H	A|R	+|+	1|2	0|0	MARS|MARS	56178649|56178649	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.165000|0.165000	0.22458|0.22458	9.318000|9.318000	0.96334|0.96334	2.433000|2.433000	0.82419|0.82419	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.498	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		3	100	0	0	0	1	0	3	100					A	57892382	G	A	57892382	3	1	205	1	0	0	0	0	1	0	0	0	9316	1087	38	1	1101	1	MARS	12	57892382	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		57892382	75959513	10	3710											
OR10G2	26534	broad.mit.edu	37	14	22102364	22102364	+	Missense_Mutation	SNP	G	G	A	rs375960315		TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr14:22102364G>A	ENST00000542433.1	-	1	732	c.635C>T	c.(634-636)gCc>gTc	p.A212V		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	212						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(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCAACTGGCGGCCACTACCCT	0.532																																						uc010tmc.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(634-636)gCc>gTc		Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.							61	67	65					14																	22102364		2198	4294	6492	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102364G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.635C>T	14.37:g.22102364G>A	ENSP00000445383:p.Ala212Val		Somatic					p.A212V	NM_001005466	NP_001005466	WXS	Illumina GAIIx	Phase_I	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	0	635	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	212					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.635C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242235	0.10077	.	.	ENSG00000255582	ENST00000542433	T	0.35605	1.3	3.92	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.294724	0.24039	N	0.042115	T	0.20901	0.0503	N	0.11427	0.14	0.26746	N	0.970308	B	0.16396	0.017	B	0.21708	0.036	T	0.20405	-1.0276	10	0.56958	D	0.05	-5.3532	10.7849	0.46398	0.0:0.1949:0.8051:0.0	.	212	Q8NGC3	O10G2_HUMAN	V	212	ENSP00000445383:A212V	ENSP00000445383:A212V	A	-	2	0	OR10G2	21172204	0.000000	0.05858	0.964000	0.40570	0.147000	0.21601	0.163000	0.16520	0.795000	0.33922	0.557000	0.71058	GCC		0.532	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			3	112	0	0	0	1	0	3	112					A	22102364	G	A	22102364	3	1	205	1	0	0	0	0	1	0	0	0	10899	1203	42	2	300	2	OR10G2	14	22102364	Missense_Mutation	SNP	G	TCGA-EL-A3T8-01A-21D-A22D-08		22102364	85247176	11	3711											
TDP1	55775	broad.mit.edu	37	14	90430003	90430003	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr14:90430003C>A	ENST00000335725.4	+	3	795	c.545C>A	c.(544-546)gCc>gAc	p.A182D	TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.A182D|TDP1_ENST00000393454.2_Missense_Mutation_p.A182D|TDP1_ENST00000393452.3_Missense_Mutation_p.A182D|TDP1_ENST00000357382.3_5'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	182					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AACTCTGGAGCCCTCCACATC	0.512								Repair of DNA-protein crosslinks																														uc001xxy.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(544-546)gCc>gAc	Repair of DNA-protein crosslinks	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.							46	47	46					14																	90430003		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90430003C>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.545C>A	14.37:g.90430003C>A	ENSP00000337353:p.Ala182Asp		Somatic				TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.A182D|TDP1_uc010atn.3_Missense_Mutation_p.A182D|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	p.A182D	NM_018319	NP_060789	WXS	Illumina GAIIx	Phase_I	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	2	844	+		all_cancers(154;0.185)	182					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.545C>A	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414528	0.83449	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000555880	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.56	4.66	0.58398	.	0.049515	0.85682	D	0.000000	T	0.62405	0.2425	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.989;0.998;0.989	T	0.61739	-0.7001	10	0.07644	T	0.81	-6.6798	14.6892	0.69072	0.0:0.9293:0.0:0.0707	.	182;182;182;182	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	D	182;182;182;83;182;182	ENSP00000377098:A182D;ENSP00000450872:A182D;ENSP00000377099:A182D;ENSP00000450708:A83D;ENSP00000337353:A182D;ENSP00000450628:A182D	ENSP00000337353:A182D	A	+	2	0	TDP1	89499756	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.335000	0.65929	2.596000	0.87737	0.561000	0.74099	GCC		0.512	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		4	48	0	0	0	1	0	4	48					A	90430003	C	A	90430003	3	1	205	1	0	0	0	0	1	0	0	0	15725	739	26	4	547	4	TDP1	14	90430003	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08	68327639	90430003	16919537	12	3712											
NOD2	64127	broad.mit.edu	37	16	50759417	50759417	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr16:50759417T>A	ENST00000300589.2	+	10	3005	c.2900T>A	c.(2899-2901)cTc>cAc	p.L967H		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	967					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)				GAGAACCATCTCCAGGATGAA	0.413																																						uc002egm.1																			0		p.L967L(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2899-2901)cTc>cAc		Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.							95	93	94					16																	50759417		2198	4300	6498	SO:0001583	missense	64127				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|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 nitric-oxide synthase biosynthetic process|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-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.chr16:50759417T>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	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"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2900T>A	16.37:g.50759417T>A	ENSP00000300589:p.Leu967His		Somatic				NOD2_uc010vgq.1_Missense_Mutation_p.L12H	p.L967H	NM_022162	NP_071445	WXS	Illumina GAIIx	Phase_I	Q9HC29	NOD2_HUMAN			9	3005	+		all_cancers(37;0.0156)	967					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2900T>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.915185	0.73098	.	.	ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240	T	0.60672	0.17	5.97	5.97	0.96955	.	0.225081	0.31685	N	0.007221	T	0.79009	0.4374	M	0.91406	3.205	0.29266	N	0.870981	D	0.71674	0.998	D	0.64877	0.93	T	0.79969	-0.1579	10	0.87932	D	0	.	12.8422	0.57809	0.0:0.0:0.0:1.0	.	967	Q9HC29	NOD2_HUMAN	H	940;967;107	ENSP00000300589:L967H	ENSP00000300589:L967H	L	+	2	0	NOD2	49316918	0.793000	0.28825	0.684000	0.30055	0.995000	0.86356	3.578000	0.53892	2.288000	0.76882	0.533000	0.62120	CTC		0.413	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		3	90	0	0	0	1	0	3	90					A	50759417	T	A	50759417	3	1	205	1	0	0	0	0	1	0	0	0	10517	1551	54	5	2938	5	NOD2	16	50759417	Missense_Mutation	SNP	T	TCGA-EL-A3T8-01A-21D-A22D-08		50759417	39595336	13	3713											
FECH	2235	broad.mit.edu	37	18	55247321	55247321	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T8-01A-21D-A22D-08	TCGA-EL-A3T8-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47a0cb63-dd19-49fe-983d-a2e786795355	e475f95d-8efb-4df4-9682-9608c5081ea7	g.chr18:55247321C>T	ENST00000262093.5	-	2	329	c.178G>A	c.(178-180)Gtt>Att	p.V60I	FECH_ENST00000585699.1_Intron|FECH_ENST00000382873.3_Missense_Mutation_p.V60I	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	60					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TGCGGTTGAACTTGAGGTTTT	0.522																																						uc002lgp.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(178-180)Gtt>Att		Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							164	148	153					18																	55247321		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55247321C>T	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.178G>A	18.37:g.55247321C>T	ENSP00000262093:p.Val60Ile		Somatic				FECH_uc002lgq.4_Missense_Mutation_p.V60I|FECH_uc002lgr.4_5'UTR	p.V60I	NM_001012515	NP_001012533	WXS	Illumina GAIIx	Phase_I	P22830	HEMH_HUMAN			1	295	-		Colorectal(73;0.227)	60					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.178G>A	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395538	0.25205	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.97665	-4.47;-4.48	5.6	5.6	0.85130	.	0.417679	0.26424	N	0.024454	D	0.93022	0.7779	L	0.27053	0.805	0.21915	N	0.999474	B;B	0.10296	0.0;0.003	B;B	0.11329	0.001;0.006	D	0.83722	0.0193	10	0.36615	T	0.2	-3.1101	10.9244	0.47184	0.0:0.9146:0.0:0.0854	.	60;60	P22830;P22830-2	HEMH_HUMAN;.	I	60	ENSP00000262093:V60I;ENSP00000372326:V60I	ENSP00000262093:V60I	V	-	1	0	FECH	53398319	0.963000	0.33076	0.702000	0.30337	0.115000	0.19883	2.526000	0.45607	2.788000	0.95919	0.650000	0.86243	GTT		0.522	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			9	142	0	0	0	1	0	9	142					T	55247321	C	T	55247321	3	4	205	1	0	0	0	0	1	0	0	0	5808	565	20	2	1151	2	FECH	18	55247321	Missense_Mutation	SNP	C	TCGA-EL-A3T8-01A-21D-A22D-08		55247321	22829927	14	3714											
SLC25A33	84275	broad.mit.edu	37	1	9642501	9642501	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:9642501C>T	ENST00000302692.6	+	7	1118	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	303					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAAATACTGCCATTGTGTTG	0.453																																						uc001apw.3																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(907-909)gCc>gTc		Homo sapiens solute carrier family 25, member 33 (SLC25A33), nuclear gene encoding mitochondrial protein, mRNA.							64	58	60					1																	9642501		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9642501C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"Solute carriers"	29681	protein-coding gene	gene with protein product		610816	"solute carrier family 25, member 33"			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.908C>T	1.37:g.9642501C>T	ENSP00000306328:p.Ala303Val		Somatic					p.A303V	NM_032315	NP_115691	WXS	Illumina GAIIx	Phase_I	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	6	1131	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	303						Missense_Mutation	SNP	ENST00000302692.6	37	c.908C>T	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227479	0.95173	.	.	ENSG00000171612	ENST00000302692	D	0.81908	-1.55	5.98	5.98	0.97165	Mitochondrial carrier domain (2);	0.211314	0.49305	D	0.000141	D	0.90397	0.6994	M	0.77313	2.365	0.80722	D	1	D	0.61697	0.99	D	0.63283	0.913	D	0.87709	0.2565	10	0.29301	T	0.29	-12.3981	19.4463	0.94849	0.0:1.0:0.0:0.0	.	303	Q9BSK2	S2533_HUMAN	V	303	ENSP00000306328:A303V	ENSP00000306328:A303V	A	+	2	0	SLC25A33	9565088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	GCC		0.453	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		7	20	0	0	0	1	0	7	20					T	9642501	C	T	9642501	3	4	206	1	0	0	0	0	1	0	0	0	14497	739	26	2	934	2	SLC25A33	1	9642501	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		9642501	239608120	1	3715											
GJA8	2703	broad.mit.edu	37	1	147380580	147380580	+	Silent	SNP	C	C	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr1:147380580C>A	ENST00000369235.1	+	1	498	c.498C>A	c.(496-498)atC>atA	p.I166I	GJA8_ENST00000240986.4_Silent_p.I166I			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	166					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGGGCTTCATCGTGGGCCACT	0.607																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(496-498)atC>atA		Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.							117	113	114					1																	147380580		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380580C>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.498C>A	1.37:g.147380580C>A			Somatic				GJA8_uc021ovm.1_Silent_p.I166I	p.I166I	NM_005267	NP_005258	WXS	Illumina GAIIx	Phase_I	P48165	CXA8_HUMAN			1	551	+	all_hematologic(923;0.0276)		166					A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.498C>A	CCDS30834.1																																																																																				0.607	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		101	144	0	0	0	1	0	101	144					A	147380580	C	A	147380580	2	1	206	1	0	0	0	0	0	0	0	1	6405	874	31	4		4	GJA8	1	147380580	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	137738079	147380580	101870041	2	3716											
SLC8A1	6546	broad.mit.edu	37	2	40342768	40342768	+	Splice_Site	SNP	G	G	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:40342768G>T	ENST00000403092.1	-	11	2580	c.2547C>A	c.(2545-2547)gaC>gaA	p.D849E	SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Splice_Site_p.D844E|SLC8A1_ENST00000405901.3_Splice_Site_p.D844E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Splice_Site_p.D813E|SLC8A1_ENST00000542024.1_Splice_Site_p.D813E|SLC8A1_ENST00000332839.4_Splice_Site_p.D849E|SLC8A1_ENST00000406391.2_Splice_Site_p.D813E|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406785.2_Splice_Site_p.D813E|SLC8A1_ENST00000408028.2_Splice_Site_p.D841E|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Splice_Site_p.D813E|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	849					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGCAAATGTGTCTGCAGAGG	0.507																																						uc002rrx.3																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.e10-1		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						66	68	67					2																	40342768		2203	4300	6503	SO:0001630	splice_region_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342768G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2546-1C>A	2.37:g.40342768G>T			Somatic				LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Splice_Site_p.D844_splice|SLC8A1_uc002rsb.2_Splice_Site_p.D841_splice|SLC8A1_uc002rrz.3_Splice_Site_p.D836_splice|SLC8A1_uc002rsa.3_Splice_Site_p.D813_splice|SLC8A1_uc002rsd.4_Splice_Site_p.D813_splice	p.D849_splice	NM_021097	NP_066920	WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			10	2570	-			849					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Splice_Site	SNP	ENST00000403092.1	37	c.2546_splice	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999305	0.54147	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.87	3.14	0.36123	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.39467	1.215	0.58432	D	0.999997	P;D;D;D	0.89917	0.902;1.0;1.0;1.0	P;D;D;D	0.81914	0.893;0.981;0.993;0.995	T	0.58244	-0.7670	10	0.87932	D	0	.	7.9687	0.30115	0.3101:0.0:0.6899:0.0	.	813;836;844;849	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	E	813;849;844;849;844;813;813;849;841;836;813;813	ENSP00000383886:D813E;ENSP00000440727:D844E;ENSP00000384763:D849E;ENSP00000385678:D844E;ENSP00000385188:D813E;ENSP00000385535:D813E;ENSP00000332931:D849E;ENSP00000384908:D841E;ENSP00000385811:D813E;ENSP00000443515:D813E	ENSP00000332931:D849E	D	-	3	2	SLC8A1	40196272	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.414000	0.44627	0.410000	0.25675	0.655000	0.94253	GAC		0.507	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	Missense_Mutation	16	49	0	0	0	1	0	16	49					T	40342768	G	T	40342768	5	4	206	1	0	0	0	0	0	0	1	0	14706	1391	48	4	378	4	SLC8A1	2	40342768	Splice_Site	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		40342768	202856605	3	3717											
KCNK12	56660	broad.mit.edu	37	2	47797086	47797086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:47797086delT	ENST00000327876.4	-	1	992	c.385delA	c.(385-387)accfs	p.T129fs	KCNK12_ENST00000493527.1_5'UTR|AC138655.1_ENST00000601243.1_5'Flank	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	129						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCACCTATGGTTGACACCACG	0.721																																						uc002rwb.3																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|prostate(1)	NS(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(385-387)accfs		Homo sapiens potassium channel, subfamily K, member 12 (KCNK12), mRNA.							3	4	4					2																	47797086		1841	3676	5517	SO:0001589	frameshift_variant	56660					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr2:47797086delT	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.385delA	2.37:g.47797086delT	ENSP00000327611:p.Thr129fs		Somatic				MSH2_uc002rvz.3_Intron	p.T129fs	NM_022055	NP_071338	WXS	Illumina GAIIx	Phase_I	Q9HB15	KCNKC_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		0	385	-		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	129						Frame_Shift_Del	DEL	ENST00000327876.4	37	c.385delA	CCDS1835.1																																																																																				0.721	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		2	4						2	4	---	---	---	---	-	47797086	T	-	47797086	7	5	206	1	0	1	0	1	0	0	0	0	8060	1725	60	0	915	0	KCNK12	2	47797086	Frame_Shift_Del	DEL	T	TCGA-EL-A3T9-01A-21D-A22D-08	7454318	47797086	195402287	4	3718											
ITGA6	3655	broad.mit.edu	37	2	173292654	173292654	+	Silent	SNP	C	C	T	rs377085042		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr2:173292654C>T	ENST00000264106.6	+	1	341	c.138C>T	c.(136-138)ttC>ttT	p.F46F	ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000343713.4_Silent_p.F46F|ITGA6_ENST00000375221.2_Silent_p.F46F|AC078883.4_ENST00000441212.1_RNA|ITGA6_ENST00000409080.1_Silent_p.F46F|ITGA6_ENST00000264107.7_Silent_p.F46F			P23229	ITA6_HUMAN	integrin, alpha 6	46					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTCGGCTTCTCGCTGGCCA	0.672																																						uc002uhp.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(136-138)ttC>ttT		Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.							44	46	46					2																	173292654		2203	4299	6502	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173292654C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.138C>T	2.37:g.173292654C>T			Somatic				ITGA6_uc010fqk.1_Intron|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Silent_p.F46F	p.F46F	NM_001079818	NP_001073286	WXS	Illumina GAIIx	Phase_I	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		0	341	+			46					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.138C>T																																																																																					0.672	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				19	39	0	0	0	1	0	19	39					T	173292654	C	T	173292654	2	4	206	1	0	0	0	0	0	0	0	1	7880	912	32	2		2	ITGA6	2	173292654	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	125495568	173292654	69906719	5	3719											
C3orf43	255798	broad.mit.edu	37	3	196235046	196235046	+	Silent	SNP	T	T	C			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr3:196235046T>C	ENST00000397537.2	-	3	513	c.357A>G	c.(355-357)agA>agG	p.R119R		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	119						integral component of membrane (GO:0016021)											CCCATACAACTCTAACGCGCT	0.483																																						uc003fws.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(355-357)agA>agG		Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA.							137	132	133					3																	196235046		1983	4160	6143	SO:0001819	synonymous_variant	255798					integral to membrane		g.chr3:196235046T>C	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 43"	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.357A>G	3.37:g.196235046T>C			Somatic				C3orf43_uc003fwr.3_Silent_p.R111R	p.R119R	NM_001077657	NP_001071125	WXS	Illumina GAIIx	Phase_I	Q147U7	CC043_HUMAN	Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)	2	514	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		119					B3KW20	Silent	SNP	ENST00000397537.2	37	c.357A>G	CCDS43192.1																																																																																				0.483	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		25	73	0	0	0	1	0	25	73					C	196235046	T	C	196235046	2	2	206	1	0	0	0	0	0	0	0	1	2230	1548	54	3		3	C3orf43	3	196235046	Silent	SNP	T	TCGA-EL-A3T9-01A-21D-A22D-08		196235046	1787384	6	3720											
ALB	213	broad.mit.edu	37	4	74274412	74274412	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:74274412A>T	ENST00000295897.4	+	4	461	c.372A>T	c.(370-372)gaA>gaT	p.E124D	ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E124D|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAGAAATGAATGCTTCTTGC	0.433																																						uc003hgs.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(370-372)gaA>gaT		Homo sapiens albumin (ALB), mRNA.	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						96	90	92					4																	74274412		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274412A>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.372A>T	4.37:g.74274412A>T	ENSP00000295897:p.Glu124Asp		Somatic				ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.E14D	p.E124D	NM_000477	NP_000468	WXS	Illumina GAIIx	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	445	+	Breast(15;0.00102)		124			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.372A>T	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672162	0.47781	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.73681	-0.77;-0.77;-0.77	6.04	-12.1	0.00011	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.745812	0.12785	N	0.439375	T	0.65626	0.2709	M	0.72118	2.19	0.58432	D	0.999998	B;B	0.14805	0.011;0.011	B;B	0.24155	0.019;0.051	T	0.56214	-0.8016	10	0.87932	D	0	-15.4278	11.339	0.49523	0.1662:0.0803:0.5954:0.1581	.	124;124	A6NBZ8;P02768	.;ALBU_HUMAN	D	126;124;124;124;133	ENSP00000392541:E126D;ENSP00000295897:E124D;ENSP00000422784:E124D	ENSP00000295897:E124D	E	+	3	2	ALB	74493276	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-3.822000	0.00357	-3.026000	0.00268	-0.468000	0.05107	GAA		0.433	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		14	35	0	0	0	1	0	14	35					T	74274412	A	T	74274412	3	4	206	1	0	0	0	0	1	0	0	0	486	98	4	5	386	5	ALB	4	74274412	Missense_Mutation	SNP	A	TCGA-EL-A3T9-01A-21D-A22D-08		74274412	116879864	7	3721											
KIAA1109	84162	broad.mit.edu	37	4	123185435	123185435	+	Silent	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr4:123185435C>T	ENST00000264501.4	+	45	7543	c.7170C>T	c.(7168-7170)ccC>ccT	p.P2390P	KIAA1109_ENST00000455637.1_Silent_p.P2390P|KIAA1109_ENST00000388738.3_Silent_p.P2390P			Q2LD37	K1109_HUMAN	KIAA1109	2390					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						CAACAATACCCTCAGCCTCAG	0.398																																						uc003ieh.3																			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.(7168-7170)ccC>ccT		Homo sapiens KIAA1109 (KIAA1109), mRNA.							103	98	100					4																	123185435		1902	4121	6023	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123185435C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7170C>T	4.37:g.123185435C>T			Somatic				KIAA1109_uc003iel.1_Silent_p.P325P|KIAA1109_uc003iek.2_Silent_p.P1009P	p.P2390P	NM_015312	NP_056127	WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			42	7215	+			2390					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.7170C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.955|8.955	0.969145|0.969145	0.18659|0.18659	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000446180	.|T	.|0.32023	.|1.47	5.92|5.92	3.26|3.26	0.37387|0.37387	.|.	.|0.000000	.|0.51477	.|U	.|0.000091	T|T	0.35998|0.35998	0.0951|0.0951	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03717|0.03717	-1.1010|-1.1010	4|7	.|0.36615	.|T	.|0.2	.|.	8.7663|8.7663	0.34704|0.34704	0.0:0.6402:0.2328:0.127|0.0:0.6402:0.2328:0.127	.|.	.|.	.|.	.|.	F|L	348|963	.|ENSP00000394909:P963L	.|ENSP00000394909:P963L	L|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123404885|123404885	0.189000|0.189000	0.23263|0.23263	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	-0.432000|-0.432000	0.06956|0.06956	0.394000|0.394000	0.25230|0.25230	-0.145000|-0.145000	0.13849|0.13849	CTC|CCT		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		27	64	0	0	0	1	0	27	64					T	123185435	C	T	123185435	2	4	206	1	0	0	0	0	0	0	0	1	8208	668	24	2		2	KIAA1109	4	123185435	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	48911023	123185435	67968841	8	3722											
ITGA2	3673	broad.mit.edu	37	5	52360756	52360756	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:52360756G>A	ENST00000296585.5	+	14	1760	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	539					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)	p.Q539Q(2)		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)				TTTTGGGTCAGCACCAATTTC	0.428																																						uc003joy.3																			2	Substitution - coding silent(2)	p.Q539Q(3)|p.G538C(1)	lung(2)	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.(1615-1617)caG>caA		Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.							111	115	113					5																	52360756		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.chr5:52360756G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1617G>A	5.37:g.52360756G>A			Somatic				ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.Q463Q|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	p.Q539Q	NM_002203	NP_002194	WXS	Illumina GAIIx	Phase_I	P17301	ITA2_HUMAN			13	1760	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	539					Q14595	Silent	SNP	ENST00000296585.5	37	c.1617G>A	CCDS3957.1																																																																																				0.428	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		3	104	0	0	0	1	0	3	104					A	52360756	G	A	52360756	2	1	206	1	0	0	0	0	0	0	0	1	7875	962	34	2		2	ITGA2	5	52360756	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		52360756	128554504	9	3723											
PCSK1	5122	broad.mit.edu	37	5	95735751	95735751	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:95735751C>T	ENST00000311106.3	-	10	1573	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A399T|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	446	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGAGCTTTGGCATTTAGCAAG	0.493																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1336-1338)Gcc>Acc		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						118	111	113					5																	95735751		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735751C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1336G>A	5.37:g.95735751C>T	ENSP00000308024:p.Ala446Thr		Somatic				PCSK1_uc010jbi.2_Missense_Mutation_p.A136T|PCSK1_uc021ybq.1_Missense_Mutation_p.A399T	p.A446T	NM_000439	NP_000430	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	9	1575	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	446					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1336G>A	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312467	0.95655	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.89050	-2.46;-2.46	5.35	5.35	0.76521	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.095078	0.64402	D	0.000001	D	0.95089	0.8409	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74348	0.932;0.983	D	0.95461	0.8543	10	0.87932	D	0	-16.8571	19.0312	0.92957	0.0:1.0:0.0:0.0	.	399;446	E9PHA1;P29120	.;NEC1_HUMAN	T	446;399	ENSP00000308024:A446T;ENSP00000421600:A399T	ENSP00000308024:A446T	A	-	1	0	PCSK1	95761507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.268000	0.78473	2.661000	0.90470	0.557000	0.71058	GCC		0.493	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		47	49	0	0	0	1	0	47	49					T	95735751	C	T	95735751	3	4	206	1	0	0	0	0	1	0	0	0	11600	710	25	2	945	2	PCSK1	5	95735751	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	43374995	95735751	85179509	10	3724											
KDM3B	51780	broad.mit.edu	37	5	137727661	137727661	+	Frame_Shift_Del	DEL	G	G	-	rs187275789		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr5:137727661delG	ENST00000314358.5	+	8	2540	c.2340delG	c.(2338-2340)ccgfs	p.P780fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.P436fs	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	780					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						TGTCCTCCCCGGCAGATTTTT	0.532																																						uc003lcy.1																			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.(2338-2340)ccgfs		Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.							177	196	189					5																	137727661		2203	4300	6503	SO:0001589	frameshift_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.chr5:137727661delG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2340delG	5.37:g.137727661delG	ENSP00000326563:p.Pro780fs		Somatic				KDM3B_uc010jew.1_Frame_Shift_Del_p.P436fs|KDM3B_uc011cys.1_Intron	p.P780fs	NM_016604	NP_057688	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			7	2540	+			780					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	ENST00000314358.5	37	c.2340delG	CCDS34242.1																																																																																				0.532	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		193	270						193	270	---	---	---	---	-	137727661	G	-	137727661	7	5	206	1	0	1	0	1	0	0	0	0	8127	1103	39	0	2370	0	KDM3B	5	137727661	Frame_Shift_Del	DEL	G	TCGA-EL-A3T9-01A-21D-A22D-08	41991910	137727661	43187599	11	3725											
HSPA1L	3305	broad.mit.edu	37	6	31779208	31779208	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr6:31779208G>A	ENST00000375654.4	-	2	731	c.542C>T	c.(541-543)gCt>gTt	p.A181V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A181V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	181					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCAATGGCAGCAGCCGTGGG	0.458																																						uc003nxh.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(541-543)gCt>gTt		Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.							95	84	88					6																	31779208		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779208G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.542C>T	6.37:g.31779208G>A	ENSP00000364805:p.Ala181Val		Somatic				HSPA1L_uc010jte.3_Missense_Mutation_p.A181V|HSPA1L_uc021yuz.1_Missense_Mutation_p.A181V	p.A181V	NM_005527	NP_005518	WXS	Illumina GAIIx	Phase_I	P34931	HS71L_HUMAN			1	725	-			181					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.542C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125224	0.77436	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.13657	2.57;2.57	4.66	4.66	0.58398	.	.	.	.	.	T	0.47451	0.1446	H	0.99650	4.68	0.80722	D	1	D	0.55605	0.972	P	0.57776	0.827	T	0.72001	-0.4422	9	0.87932	D	0	.	15.0885	0.72174	0.0:0.0:1.0:0.0	.	181	P34931	HS71L_HUMAN	V	181;181;126;71	ENSP00000364805:A181V;ENSP00000387691:A181V	ENSP00000364804:A126V	A	-	2	0	HSPA1L	31887187	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	9.652000	0.98499	2.410000	0.81850	0.460000	0.39030	GCT		0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			3	72	0	0	0	1	0	3	72					A	31779208	G	A	31779208	3	1	206	1	0	0	0	0	1	0	0	0	7410	971	34	2	1387	2	HSPA1L	6	31779208	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		31779208	139335859	12	3726											
KIAA0415	9907	broad.mit.edu	37	7	4830986	4830986	+	Silent	SNP	G	G	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr7:4830986G>T	ENST00000348624.4	+	17	2488	c.2394G>T	c.(2392-2394)gtG>gtT	p.V798V	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	798					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCGGCTGGTGGAGAGGGAGG	0.667																																						uc003sne.3																			0											c.(2392-2394)gtG>gtT		Homo sapiens KIAA0415 (KIAA0415), mRNA.							15	19	18					7																	4830986		2014	4177	6191	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830986G>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2394G>T	7.37:g.4830986G>T			Somatic				AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Silent_p.V275V|MIR4656_uc021zzb.1_5'Flank	p.V798V	NM_014855	NP_055670	WXS	Illumina GAIIx	Phase_I	O43299	K0415_HUMAN			16	2479	+			798					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.2394G>T	CCDS47528.1																																																																																				0.667	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			18	28	0	0	0	1	0	18	28					T	4830986	G	T	4830986	2	4	206	1	0	0	0	0	0	0	0	1	8175	1335	47	4		4	KIAA0415	7	4830986	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		4830986	154307677	13	3727											
FLNC	2318	broad.mit.edu	37	7	128494189	128494189	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr7:128494189G>A	ENST00000325888.8	+	40	6907	c.6646G>A	c.(6646-6648)Gac>Aac	p.D2216N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D2183N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2216	Intradomain insert; mediate targeting to Z lines.				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						GGTCGGCGGGGACCCCTTCCC	0.697																																						uc003vnz.4																			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.(6646-6648)Gac>Aac		Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.							21	28	26					7																	128494189		1987	4140	6127	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494189G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6646G>A	7.37:g.128494189G>A	ENSP00000327145:p.Asp2216Asn		Somatic				FLNC_uc003voa.4_Missense_Mutation_p.D2183N	p.D2216N	NM_001458	NP_001449	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			39	6855	+			2216			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6646G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176343	0.78564	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85556	-2.0;-2.0	5.64	5.64	0.86602	.	0.142156	0.49916	D	0.000131	T	0.73598	0.3607	N	0.08118	0	0.52501	D	0.99995	B;B	0.33238	0.403;0.244	B;B	0.30855	0.121;0.018	T	0.76629	-0.2889	10	0.72032	D	0.01	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2183;2216	Q14315-2;Q14315	.;FLNC_HUMAN	N	2216;2183	ENSP00000327145:D2216N;ENSP00000344002:D2183N	ENSP00000327145:D2216N	D	+	1	0	FLNC	128281425	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.140000	0.71738	2.655000	0.90218	0.655000	0.94253	GAC		0.697	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			30	38	0	0	0	1	0	30	38					A	128494189	G	A	128494189	3	1	206	1	0	0	0	0	1	0	0	0	5935	1174	41	2	6804	2	FLNC	7	128494189	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	123663203	128494189	30644474	14	3728											
GPT	2875	broad.mit.edu	37	8	145730778	145730778	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr8:145730778G>A	ENST00000528431.1	+	6	802	c.645G>A	c.(643-645)gcG>gcA	p.A215A	GPT_ENST00000394955.2_Silent_p.A215A			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	215					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GTGCCTGGGCGCTGGACGTGG	0.672																																						uc003zdh.4																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(643-645)gcG>gcA		Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						31	25	27					8																	145730778		2182	4285	6467	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730778G>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.645G>A	8.37:g.145730778G>A			Somatic				GPT_uc011llj.1_Silent_p.A215A	p.A215A	NM_005309	NP_005300	WXS	Illumina GAIIx	Phase_I	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	868	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		215					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.645G>A	CCDS6430.1																																																																																				0.672	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			3	39	0	0	0	1	0	3	39					A	145730778	G	A	145730778	2	1	206	1	0	0	0	0	0	0	0	1	6737	1074	38	1		1	GPT	8	145730778	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		145730778	633244	15	3729											
STOML2	30968	broad.mit.edu	37	9	35102741	35102741	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr9:35102741G>A	ENST00000356493.5	-	2	187	c.125C>T	c.(124-126)cCg>cTg	p.P42L	STOML2_ENST00000452248.2_Missense_Mutation_p.P42L|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	42					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCCTGCTGCGGCACGAACAG	0.642																																						uc003zwi.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(124-126)cCg>cTg		Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.							59	66	64					9																	35102741		2203	4300	6503	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35102741G>A	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.125C>T	9.37:g.35102741G>A	ENSP00000348886:p.Pro42Leu		Somatic				STOML2_uc011lou.2_Missense_Mutation_p.P42L	p.P42L	NM_013442	NP_038470	WXS	Illumina GAIIx	Phase_I	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	188	-			42					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.125C>T	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997984	0.97184	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.95035	-3.59;-3.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.978;1.0	D	0.98971	1.0801	10	0.87932	D	0	-25.8155	19.0059	0.92851	0.0:0.0:1.0:0.0	.	42;42	B4E1K7;Q9UJZ1	.;STML2_HUMAN	L	42	ENSP00000348886:P42L;ENSP00000395743:P42L	ENSP00000348886:P42L	P	-	2	0	STOML2	35092741	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.226000	0.95229	2.826000	0.97356	0.561000	0.74099	CCG		0.642	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		52	111	0	0	0	1	0	52	111					A	35102741	G	A	35102741	3	1	206	1	0	0	0	0	1	0	0	0	15313	1116	39	1	981	1	STOML2	9	35102741	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		35102741	106110690	16	3730											
VWA2	340706	broad.mit.edu	37	10	116045883	116045883	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr10:116045883G>A	ENST00000392982.3	+	11	1433	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	VWA2_ENST00000603594.1_Missense_Mutation_p.V395M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	395	VWFA 2. {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)		GCTGGTGGCGGTGCCTGTGGG	0.662																																						uc001lbl.1																			0		p.A394V(1)		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.(1183-1185)Gtg>Atg		Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.							78	74	75					10																	116045883		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045883G>A	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1183G>A	10.37:g.116045883G>A	ENSP00000376708:p.Val395Met		Somatic				VWA2_uc001lbk.1_Missense_Mutation_p.V395M|VWA2_uc009xyf.1_Missense_Mutation_p.V91M	p.V395M	NM_198496	NP_940898	WXS	Illumina GAIIx	Phase_I	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	10	1504	+			395			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1183G>A		.	.	.	.	.	.	.	.	.	.	G	14.13	2.444847	0.43429	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.85013	-1.93	5.6	4.69	0.59074	von Willebrand factor, type A (3);	0.143356	0.46442	D	0.000283	D	0.91078	0.7192	M	0.77616	2.38	0.27933	N	0.937803	D;D;D	0.71674	0.998;0.993;0.997	D;D;D	0.69142	0.962;0.947;0.948	D	0.85517	0.1201	10	0.87932	D	0	.	12.5014	0.55957	0.1328:0.0:0.8672:0.0	.	91;395;395	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	M	395	ENSP00000376708:V395M	ENSP00000298715:V395M	V	+	1	0	VWA2	116035873	0.990000	0.36364	0.952000	0.39060	0.036000	0.12997	2.004000	0.40854	2.625000	0.88918	0.563000	0.77884	GTG		0.662	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		4	177	0	0	0	1	0	4	177					A	116045883	G	A	116045883	3	1	206	1	0	0	0	0	1	0	0	0	17236	1261	44	2	1221	2	VWA2	10	116045883	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		116045883	19488864	17	3731											
ETS1	2113	broad.mit.edu	37	11	128332410	128332410	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr11:128332410C>T	ENST00000319397.6	-	8	1481	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	ETS1_ENST00000345075.4_Missense_Mutation_p.R304H|ETS1_ENST00000526145.2_Missense_Mutation_p.R304H|ETS1_ENST00000392668.4_Missense_Mutation_p.R435H|ETS1_ENST00000535549.1_Missense_Mutation_p.R175H|ETS1_ENST00000531611.1_3'UTR	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	391					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)		GCGTAGGCCACGGCTCAGTTT	0.458																																						uc001qej.2																			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.(1303-1305)cGt>cAt		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.							199	157	171					11																	128332410		2201	4297	6498	SO:0001583	missense	2113				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|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.chr11:128332410C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.1172G>A	11.37:g.128332410C>T	ENSP00000324578:p.Arg391His		Somatic				ETS1_uc010sbs.1_Missense_Mutation_p.R391H|ETS1_uc009zch.2_Missense_Mutation_p.R175H|ETS1_uc009zcg.2_3'UTR	p.R435H	NM_001143820	NP_001137292	WXS	Illumina GAIIx	Phase_I	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)	9	1389	-	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)	391					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.1304G>A	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416038	0.96092	.	.	ENSG00000134954	ENST00000345075;ENST00000535549;ENST00000392668;ENST00000319397;ENST00000526145	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.96	5.96	0.96718	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.051447	0.85682	D	0.000000	T	0.69646	0.3134	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.97110	0.842;0.999;1.0	T	0.77427	-0.2592	10	0.87932	D	0	.	20.4043	0.99006	0.0:1.0:0.0:0.0	.	391;175;435	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	H	304;175;435;391;304	ENSP00000340485:R304H;ENSP00000441430:R175H;ENSP00000376436:R435H;ENSP00000324578:R391H;ENSP00000433500:R304H	ENSP00000324578:R391H	R	-	2	0	ETS1	127837620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.823000	0.97156	0.650000	0.86243	CGT		0.458	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		21	42	0	0	0	1	0	21	42					T	128332410	C	T	128332410	3	4	206	1	0	0	0	0	1	0	0	0	5275	536	19	1	157	1	ETS1	11	128332410	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		128332410	6674106	18	3732											
LRP1	4035	broad.mit.edu	37	12	57553705	57553705	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:57553705G>A	ENST00000243077.3	+	12	2362	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	632					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)	TGGCCAGGCTGGAGAAAGCTG	0.567																																						uc001snd.3																			0				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						c.(1894-1896)ctG>ctA		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						125	106	112					12																	57553705		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57553705G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1896G>A	12.37:g.57553705G>A			Somatic					p.L632L	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	11	2362	+			632					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1896G>A	CCDS8932.1																																																																																				0.567	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	130	0	0	0	1	0	3	130					A	57553705	G	A	57553705	2	1	206	1	0	0	0	0	0	0	0	1	8951	1335	47	2		2	LRP1	12	57553705	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		57553705	76298190	19	3733											
POC1B	282809	broad.mit.edu	37	12	89864264	89864264	+	Silent	SNP	G	G	A	rs185311452	byFrequency	TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr12:89864264G>A	ENST00000313546.3	-	7	812	c.684C>T	c.(682-684)agC>agT	p.S228S	POC1B_ENST00000393179.4_Silent_p.S98S|POC1B_ENST00000549035.1_Silent_p.S186S|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000541909.1_Silent_p.S98S|POC1B_ENST00000549504.1_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	228					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAACTCCACCGCTGTGAACTG	0.388													G|||	4	0.000798722	0	0	5008	,	,		12769	0.004		0	False		,,,				2504	0					uc001tbc.3																			0				endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(682-684)agC>agT		Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.							106	105	105					12																	89864264		2203	4300	6503	SO:0001819	synonymous_variant	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89864264G>A	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.684C>T	12.37:g.89864264G>A			Somatic				GALNT4_uc001tba.3_Silent_p.S186S|GALNT4_uc001tbb.3_Silent_p.S98S|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron	p.S228S	NM_172240	NP_001186706	WXS	Illumina GAIIx	Phase_I	Q8N4A0	GALT4_HUMAN			6	1051	-			0			Catalytic subdomain A.		G3V1X0	Silent	SNP	ENST00000313546.3	37	c.684C>T	CCDS31869.1																																																																																				0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		3	68	0	0	0	1	0	3	68					A	89864264	G	A	89864264	2	1	206	1	0	0	0	0	0	0	0	1	12176	1078	38	1		1	POC1B	12	89864264	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	32310559	89864264	43987631	20	3734											
GPR135	64582	broad.mit.edu	37	14	59930877	59930877	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr14:59930877G>A	ENST00000395116.1	-	1	1183	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GGGCCTGCCGGGCGGCGGCCA	0.667																																						uc010apj.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1066-1068)gcC>gcT		Homo sapiens G protein-coupled receptor 135 (GPR135), mRNA.							15	16	15					14																	59930877		2183	4280	6463	SO:0001819	synonymous_variant	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930877G>A	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"GPCR / Class A : Orphans"	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1068C>T	14.37:g.59930877G>A			Somatic				GPR135_uc001xed.2_Non-coding_Transcript	p.A356A	NM_022571	NP_072093	WXS	Illumina GAIIx	Phase_I	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	0	1183	-			356					Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	c.1068C>T	CCDS9738.1																																																																																				0.667	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		5	16	0	0	0	1	0	5	16					A	59930877	G	A	59930877	2	1	206	1	0	0	0	0	0	0	0	1	6644	1219	43	2		2	GPR135	14	59930877	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		59930877	47418663	21	3735											
NTRK3	4916	broad.mit.edu	37	15	88679156	88679156	+	Missense_Mutation	SNP	T	T	G	rs372972530		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr15:88679156T>G	ENST00000360948.2	-	8	1042	c.881A>C	c.(880-882)aAt>aCt	p.N294T	NTRK3_ENST00000558676.1_Missense_Mutation_p.N294T|NTRK3_ENST00000394480.2_Missense_Mutation_p.N294T|NTRK3_ENST00000542733.2_Missense_Mutation_p.N196T|NTRK3_ENST00000557856.1_Missense_Mutation_p.N294T|NTRK3_ENST00000355254.2_Missense_Mutation_p.N294T|NTRK3_ENST00000357724.2_Missense_Mutation_p.N294T|NTRK3_ENST00000540489.2_Missense_Mutation_p.N294T|NTRK3_ENST00000317501.3_Missense_Mutation_p.N294T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	294	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AACACTGGCATTGCTCATGCC	0.542			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												uc002bme.2				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(880-882)aAt>aCt		Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.							208	129	156					15																	88679156		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679156T>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.881A>C	15.37:g.88679156T>G	ENSP00000354207:p.Asn294Thr	TSP Lung(13;0.10)	Somatic				NTRK3_uc002bmh.2_Missense_Mutation_p.N294T|NTRK3_uc002bmf.2_Missense_Mutation_p.N294T|NTRK3_uc021sua.1_Missense_Mutation_p.N294T|NTRK3_uc010upl.1_Missense_Mutation_p.N196T|NTRK3_uc010bnh.1_Missense_Mutation_p.N294T|NTRK3_uc002bmg.3_Missense_Mutation_p.N294T	p.N294T	NM_001012338	NP_001012338	WXS	Illumina GAIIx	Phase_I	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		8	1187	-			294			Ig-like C2-type 1.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.881A>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396473	0.62177	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.089884	0.85682	N	0.000000	T	0.61388	0.2343	N	0.25144	0.715	0.52099	D	0.999949	P;P;B;D;P;B	0.62365	0.84;0.811;0.142;0.991;0.814;0.071	P;B;B;P;B;B	0.57720	0.474;0.433;0.216;0.826;0.38;0.065	T	0.63462	-0.6632	10	0.59425	D	0.04	.	11.5562	0.50750	0.0:0.0:0.1501:0.8499	.	196;294;294;294;294;294	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	T	294;294;294;294;196;294;294	ENSP00000377990:N294T;ENSP00000354207:N294T;ENSP00000350356:N294T;ENSP00000347397:N294T;ENSP00000437773:N196T;ENSP00000444673:N294T;ENSP00000318328:N294T	ENSP00000318328:N294T	N	-	2	0	NTRK3	86480160	1.000000	0.71417	0.990000	0.47175	0.947000	0.59692	7.853000	0.86934	0.895000	0.36342	0.460000	0.39030	AAT		0.542	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				33	63	0	0	0	1	0	33	63					G	88679156	T	G	88679156	3	3	206	1	0	0	0	0	1	0	0	0	10708	1493	52	5	1948	5	NTRK3	15	88679156	Missense_Mutation	SNP	T	TCGA-EL-A3T9-01A-21D-A22D-08		88679156	13852236	22	3736											
PALB2	79728	broad.mit.edu	37	16	23646583	23646583	+	Silent	SNP	G	G	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:23646583G>T	ENST00000261584.4	-	4	1436	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	428	ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome association.|DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GACTCTGAATGACAGCCTCCA	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1282-1284)gtC>gtA	Involved in tolerance or repair of DNA crosslinks	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.							71	75	74					16																	23646583		2195	4300	6495	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646583G>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1284C>A	16.37:g.23646583G>T			Somatic					p.V428V	NM_024675	NP_078951	WXS	Illumina GAIIx	Phase_I	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	3	1484	-			428					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.1284C>A	CCDS32406.1																																																																																				0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		3	85	0	0	0	1	0	3	85					T	23646583	G	T	23646583	2	4	206	1	0	0	0	0	0	0	0	1	11406	1277	45	4		4	PALB2	16	23646583	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		23646583	66708170	23	3737											
ITGAL	3683	broad.mit.edu	37	16	30510706	30510706	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:30510706C>T	ENST00000356798.6	+	17	2221	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	ITGAL_ENST00000358164.5_Missense_Mutation_p.R598W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R77W|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	681					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGATGGCCACCGGACCAGAAG	0.537																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.4																			0		p.R681Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2041-2043)Cgg>Tgg		Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	Efalizumab(DB00095)						117	113	114					16																	30510706		2197	4300	6497	SO:0001583	missense	3683				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30510706C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2041C>T	16.37:g.30510706C>T	ENSP00000349252:p.Arg681Trp		Somatic				ITGAL_uc002dyj.4_Missense_Mutation_p.R598W|ITGAL_uc010vev.2_Missense_Mutation_p.R77W	p.R681W	NM_002209	NP_002200	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			16	2217	+			681					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2041C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011749	0.35511	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.52295	0.67;0.67;1.34	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.000000	0.51477	D	0.000096	T	0.69160	0.3080	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.72530	-0.4265	10	0.87932	D	0	.	12.5499	0.56222	0.1661:0.8339:0.0:0.0	.	77;598;681	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	W	681;598;77	ENSP00000349252:R681W;ENSP00000350886:R598W;ENSP00000409377:R77W	ENSP00000349252:R681W	R	+	1	2	ITGAL	30418207	0.275000	0.24201	1.000000	0.80357	0.502000	0.33828	0.223000	0.17719	2.753000	0.94483	0.650000	0.86243	CGG		0.537	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			57	185	0	0	0	1	0	57	185					T	30510706	C	T	30510706	3	4	206	1	0	0	0	0	1	0	0	0	7886	643	23	1	2107	1	ITGAL	16	30510706	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	6864123	30510706	59844047	24	3738											
ELMO3	79767	broad.mit.edu	37	16	67237636	67237636	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr16:67237636G>A	ENST00000360833.1	+	19	2184	c.2127G>A	c.(2125-2127)ctG>ctA	p.L709L	MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Silent_p.L560L|ELMO3_ENST00000393997.2_Silent_p.L726L			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	673					apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGACACGGCTGGACCTGGAGC	0.672																																						uc002esa.3																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2176-2178)ctG>ctA		Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.							39	46	44					16																	67237636		2139	4232	6371	SO:0001819	synonymous_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237636G>A		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.2127G>A	16.37:g.67237636G>A			Somatic				ELMO3_uc002esb.3_Silent_p.L709L|ELMO3_uc002esc.3_Silent_p.L560L|MIR328_uc010vjf.1_5'Flank	p.L726L	NM_024712	NP_078988	WXS	Illumina GAIIx	Phase_I	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	19	2221	+		Ovarian(137;0.0563)	673					B4DV86|Q9H8A5	Silent	SNP	ENST00000360833.1	37	c.2178G>A																																																																																					0.672	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		4	139	0	0	0	1	0	4	139					A	67237636	G	A	67237636	2	1	206	1	0	0	0	0	0	0	0	1	5067	1335	47	2		2	ELMO3	16	67237636	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	36726930	67237636	23117117	25	3739											
CAPS	8498	broad.mit.edu	37	19	5915243	5915243	+	IGR	SNP	G	G	A	rs371122890		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:5915243G>A	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Silent_p.A246A|CAPS_ENST00000452990.2_Silent_p.A133A|CAPS_ENST00000222125.5_Silent_p.A160A	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCACACTGGCGGAATTCCAGG	0.667																																						uc002mdt.3																			0				cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						c.(478-480)gcG>gcA		Homo sapiens calcyphosine (CAPS), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	73	65	68		480,399	-11.2	0.0	19		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CAPS	NM_004058.3,NM_080590.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	160/190,133/163	5915243	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5915243G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5915243G>A			Somatic				CAPS_uc002mdu.3_Silent_p.A133A	p.A160A	NM_004058	NP_004049	WXS	Illumina GAIIx	Phase_I	Q13938	CAYP1_HUMAN			4	630	+			160			EF-hand 4.		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.480G>A	CCDS42478.1																																																																																				0.667	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		18	37	0	0	0	1	0	18	37					A	5915243	G	A	5915243	1	1	206	0	1	0	0	0	0	0	0	0	2637	1103	39	1		1	CAPS	19	5915243	IGR	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		5915243	53213740	26	3740											
ZNF414	84330	broad.mit.edu	37	19	8576745	8576745	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:8576745G>A	ENST00000255616.8	-	5	731	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF414_ENST00000393927.4_Silent_p.P210P	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						CCAGGGCCGGGGGTGGCGGCG	0.726																																						uc002mke.4																			0				lung(2)	2						c.(628-630)ccC>ccT		Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.							4	6	5					19																	8576745		1631	3504	5135	SO:0001819	synonymous_variant	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8576745G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.630C>T	19.37:g.8576745G>A			Somatic				ZNF414_uc010dwf.3_Silent_p.P199P|ZNF414_uc002mkf.3_Silent_p.P210P	p.P210P	NM_001146175	NP_001139647	WXS	Illumina GAIIx	Phase_I	Q96IQ9	ZN414_HUMAN			4	748	-			210					A8MY94	Silent	SNP	ENST00000255616.8	37	c.630C>T	CCDS12205.1																																																																																				0.726	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		3	5	0	0	0	1	0	3	5					A	8576745	G	A	8576745	2	1	206	1	0	0	0	0	0	0	0	1	17888	1219	43	2		2	ZNF414	19	8576745	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	2661502	8576745	50552238	27	3741											
LOC729991-MEF2B	100271849	broad.mit.edu	37	19	19258532	19258532	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr19:19258532G>A	ENST00000602424.2	-	6	1094	c.368C>T	c.(367-369)cCg>cTg	p.P123L	MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000424583.2_Missense_Mutation_p.P123L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P123L|MEF2B_ENST00000409447.2_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P140L|MEF2B_ENST00000162023.5_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P123L|MEF2B_ENST00000409224.1_Missense_Mutation_p.P126L	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	123					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGGCAAGGCCGGATCACCCCC	0.627																																						uc002nll.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(367-369)cCg>cTg		Homo sapiens myocyte enhancer factor 2B (MEF2B), mRNA.							67	68	68					19																	19258532		2203	4300	6503	SO:0001583	missense	100271849							g.chr19:19258532G>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.368C>T	19.37:g.19258532G>A	ENSP00000473308:p.Pro123Leu		Somatic				MEF2B_uc010xqo.1_Missense_Mutation_p.P123L|MEF2B_uc002nlp.2_Missense_Mutation_p.P123L|MEF2B_uc010xqp.1_Missense_Mutation_p.P123L|MEF2B_uc002nlo.2_Missense_Mutation_p.P123L|MEF2B_uc002nlk.2_Missense_Mutation_p.P126L	p.P123L	NM_001145785	NP_001139257	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		3	482	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.368C>T	CCDS12394.1	.	.	.	.	.	.	.	.	.	.	G	5.079	0.200243	0.09652	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.85861	-2.04;-2.02;-1.87;-2.01;-2.02	5.15	2.8	0.32819	.	0.629540	0.15163	N	0.277044	T	0.63355	0.2504	N	0.04880	-0.145	0.35343	D	0.786665	B;B;B;B;B	0.15930	0.012;0.015;0.005;0.01;0.006	B;B;B;B;B	0.10450	0.005;0.003;0.002;0.003;0.001	T	0.57751	-0.7757	10	0.07990	T	0.79	-4.8687	5.3856	0.16216	0.2963:0.0:0.7037:0.0	.	123;170;123;123;126	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	L	126;123;123;123;170;123	ENSP00000386480:P126L;ENSP00000402154:P123L;ENSP00000386374:P123L;ENSP00000390762:P123L;ENSP00000162023:P123L	ENSP00000162023:P123L	P	-	2	0	MEF2B	19119532	0.995000	0.38212	0.998000	0.56505	0.966000	0.64601	3.177000	0.50871	1.139000	0.42245	0.561000	0.74099	CCG		0.627	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		3	114	0	0	0	1	0	3	114					A	19258532	G	A	19258532	3	1	206	1	0	0	0	0	1	0	0	0	8889	1116	39	1	749	1	LOC729991-MEF2B	19	19258532	Missense_Mutation	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	10681787	19258532	39870451	28	3742											
COL20A1	57642	broad.mit.edu	37	20	61941834	61941834	+	Silent	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr20:61941834C>T	ENST00000358894.6	+	11	1465	c.1365C>T	c.(1363-1365)ggC>ggT	p.G455G	COL20A1_ENST00000422202.1_Silent_p.G462G|COL20A1_ENST00000326996.6_Silent_p.G455G|COL20A1_ENST00000435874.1_Silent_p.G462G	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	455	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGGGGTTGGCGAAGGCCTGC	0.687																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(1363-1365)ggC>ggT		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							16	19	18					20																	61941834		1989	4150	6139	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61941834C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1365C>T	20.37:g.61941834C>T			Somatic				COL20A1_uc011aav.2_Silent_p.G276G	p.G455G	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			10	1465	+	all_cancers(38;1.39e-10)		455			Fibronectin type-III 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.1365C>T	CCDS46628.1																																																																																				0.687	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	12	0	0	0	1	0	3	12					T	61941834	C	T	61941834	2	4	206	1	0	0	0	0	0	0	0	1	3679	755	27	1		1	COL20A1	20	61941834	Silent	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		61941834	1083686	29	3743											
TMEM50B	757	broad.mit.edu	37	21	34839360	34839360	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:34839360C>A	ENST00000542230.2	-	3	383	c.169G>T	c.(169-171)Gcc>Tcc	p.A57S	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	57						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						GTGTGAAAGGCATGGTTCAAC	0.368																																						uc002yrs.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4								Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA.							146	132	137					21																	34839360		2203	4300	6503	SO:0001583	missense	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34839360C>A	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 4"	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.169G>T	21.37:g.34839360C>A	ENSP00000439768:p.Ala57Ser		Somatic				TMEM50B_uc010gmb.2_Non-coding_Transcript		NM_006134		WXS	Illumina GAIIx	Phase_I	P56557	TM50B_HUMAN			2		-								B2R4L4|D3DSF1|O60537|Q5PY47	RNA	SNP	ENST00000542230.2	37	c.382G>T	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804956	0.50315	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504;ENST00000435619	T;T	0.30448	1.53;1.53	5.62	4.74	0.60224	.	0.177614	0.48286	D	0.000194	T	0.24661	0.0598	L	0.35249	1.045	0.58432	D	0.999999	B	0.27700	0.186	B	0.33121	0.158	T	0.03576	-1.1023	10	0.12103	T	0.63	-11.8283	13.255	0.60073	0.0:0.9224:0.0:0.0776	.	57	P56557	TM50B_HUMAN	S	57	ENSP00000439768:A57S;ENSP00000387622:A57S	ENSP00000371390:A57S	A	-	1	0	TMEM50B	33761230	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.298000	0.59067	1.379000	0.46325	0.549000	0.68633	GCC		0.368	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			3	101	0	0	0	1	0	3	101					A	34839360	C	A	34839360	3	1	206	1	0	0	0	0	1	0	0	0	16173	710	25	4	327	4	TMEM50B	21	34839360	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08		34839360	13290535	30	3744											
COL6A2	1292	broad.mit.edu	37	21	47532397	47532397	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr21:47532397C>T	ENST00000300527.4	+	3	724	c.620C>T	c.(619-621)aCg>aTg	p.T207M	COL6A2_ENST00000409416.1_Missense_Mutation_p.T207M|COL6A2_ENST00000357838.4_Missense_Mutation_p.T207M|COL6A2_ENST00000310645.5_Missense_Mutation_p.T207M|COL6A2_ENST00000397763.1_Missense_Mutation_p.T207M|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	207	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	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)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATCGCCAGCACGCCGCACGAG	0.662																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(619-621)aCg>aTg		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							22	30	27					21																	47532397		2200	4291	6491	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532397C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.620C>T	21.37:g.47532397C>T	ENSP00000300527:p.Thr207Met		Somatic				COL6A2_uc002zhz.1_Missense_Mutation_p.T207M|COL6A2_uc002zhy.1_Missense_Mutation_p.T207M	p.T207M	NM_001849	NP_001840	WXS	Illumina GAIIx	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	2	702	+	Breast(49;0.245)		207			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.620C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	6.716	0.500827	0.12822	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.21	1.91	0.25777	von Willebrand factor, type A (3);	0.659028	0.15915	N	0.238410	T	0.72692	0.3492	L	0.34521	1.04	0.09310	N	1	B;B;B	0.23937	0.045;0.094;0.075	B;B;B	0.21360	0.027;0.034;0.028	T	0.63296	-0.6669	10	0.45353	T	0.12	-2.8059	9.9243	0.41483	0.0:0.7108:0.0:0.2892	.	207;207;207	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	207	ENSP00000300527:T207M;ENSP00000350497:T207M;ENSP00000312529:T207M;ENSP00000387115:T207M;ENSP00000380870:T207M	ENSP00000300527:T207M	T	+	2	0	COL6A2	46356825	0.001000	0.12720	0.216000	0.23742	0.831000	0.47069	1.301000	0.33447	0.905000	0.36596	0.313000	0.20887	ACG		0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			13	26	0	0	0	1	0	13	26					T	47532397	C	T	47532397	3	4	206	1	0	0	0	0	1	0	0	0	3700	536	19	1	626	1	COL6A2	21	47532397	Missense_Mutation	SNP	C	TCGA-EL-A3T9-01A-21D-A22D-08	12693037	47532397	597498	31	3745											
SEZ6L	23544	broad.mit.edu	37	22	26695087	26695087	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:26695087A>C	ENST00000248933.6	+	5	1395	c.1300A>C	c.(1300-1302)Atc>Ctc	p.I434L	SEZ6L_ENST00000360929.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.I434L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.I434L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	434	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTGACATGCATCAATGCCTC	0.597																																						uc003acb.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1300-1302)Atc>Ctc		Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.							32	28	29					22																	26695087		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26695087A>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1300A>C	22.37:g.26695087A>C	ENSP00000248933:p.Ile434Leu		Somatic				SEZ6L_uc003acd.3_Missense_Mutation_p.I434L|SEZ6L_uc011akd.2_Missense_Mutation_p.I434L|SEZ6L_uc003ace.3_Missense_Mutation_p.I434L|SEZ6L_uc011akc.2_Missense_Mutation_p.I434L|SEZ6L_uc003acc.3_Missense_Mutation_p.I434L|SEZ6L_uc003acf.1_Missense_Mutation_p.I207L|SEZ6L_uc010gvc.1_Missense_Mutation_p.I207L	p.I434L	NM_021115	NP_066938	WXS	Illumina GAIIx	Phase_I	Q9BYH1	SE6L1_HUMAN			4	1496	+			434			Sushi 1.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1300A>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	4.132	0.022750	0.08006	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01	4.55	3.49	0.39957	Complement control module (2);Sushi/SCR/CCP (3);	0.114934	0.37623	N	0.002004	T	0.22704	0.0548	N	0.00446	-1.495	0.80722	D	1	B;B;B;B;B;B;B	0.15719	0.002;0.001;0.014;0.004;0.002;0.001;0.001	B;B;B;B;B;B;B	0.19666	0.007;0.01;0.026;0.009;0.015;0.01;0.01	T	0.34104	-0.9842	10	0.02654	T	1	.	9.7682	0.40574	0.6637:0.3362:0.0:0.0	.	434;434;207;434;434;434;434	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	L	434;434;434;434;434;207;207	ENSP00000384772:I434L;ENSP00000437037:I434L;ENSP00000354185:I434L;ENSP00000248933:I434L;ENSP00000342661:I434L;ENSP00000384838:I207L;ENSP00000384733:I207L	ENSP00000248933:I434L	I	+	1	0	SEZ6L	25025087	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	2.547000	0.45786	0.749000	0.32854	0.459000	0.35465	ATC		0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	25	0	0	0	1	0	7	25					C	26695087	A	C	26695087	3	2	206	1	0	0	0	0	1	0	0	0	14143	217	8	5	1318	5	SEZ6L	22	26695087	Missense_Mutation	SNP	A	TCGA-EL-A3T9-01A-21D-A22D-08		26695087	24609479	32	3746											
ELFN2	114794	broad.mit.edu	37	22	37769205	37769205	+	Silent	SNP	G	G	A	rs148494870		TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chr22:37769205G>A	ENST00000402918.2	-	3	3155	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	790					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGCAGGGCGTGACCGGCGG	0.627													G|||	1	0.000199681	0	0	5008	,	,		14983	0		0.001	False		,,,				2504	0					uc003asq.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2368-2370)caC>caT		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.		G		0,4406		0,0,2203	97	89	91		2370	2.4	1.0	22	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ELFN2	NM_052906.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		790/821	37769205	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769205G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2370C>T	22.37:g.37769205G>A			Somatic				ELFN2_uc021wph.1_Silent_p.H790H	p.H790H	NM_052906	NP_443138	WXS	Illumina GAIIx	Phase_I	Q5R3F8	LRFN6_HUMAN			2	3156	-	Melanoma(58;0.0574)		790					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.2370C>T	CCDS33642.1																																																																																				0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		44	82	0	0	0	1	0	44	82					A	37769205	G	A	37769205	2	1	206	1	0	0	0	0	0	0	0	1	5058	1136	40	1		1	ELFN2	22	37769205	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08	11074118	37769205	13535361	33	3747											
EFNB1	1947	broad.mit.edu	37	X	68060182	68060182	+	Silent	SNP	G	G	A			TCGA-EL-A3T9-01A-21D-A22D-08	TCGA-EL-A3T9-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d692ecd0-2433-426b-9af2-a30c44a80f7c	60ecca33-9f6a-4c77-a862-6f3d723029c9	g.chrX:68060182G>A	ENST00000204961.4	+	5	1506	c.726G>A	c.(724-726)gcG>gcA	p.A242A		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	242					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CATTGTTCGCGGCTGTCGGTG	0.587																																						uc004dxe.2																			0		p.A242T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(724-726)gcG>gcA		Homo sapiens ephrin-B1 (EFNB1), mRNA.							56	57	56					X																	68060182		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060182G>A	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.726G>A	X.37:g.68060182G>A			Somatic				EFNB1_uc004dxd.4_Silent_p.A242A	p.A242A	NM_004429	NP_004420	WXS	Illumina GAIIx	Phase_I	P98172	EFNB1_HUMAN			4	1506	+			242					D3DVU0	Silent	SNP	ENST00000204961.4	37	c.726G>A	CCDS14391.1																																																																																				0.587	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		9	36	0	0	0	1	0	9	36					A	68060182	G	A	68060182	2	1	206	1	0	0	0	0	0	0	0	1	4955	1103	39	1		1	EFNB1	23	68060182	Silent	SNP	G	TCGA-EL-A3T9-01A-21D-A22D-08		68060182	87210378	34	3748											
DCDC2	51473	broad.mit.edu	37	6	24357867	24357867	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr6:24357867C>T	ENST00000378454.3	-	1	413	c.112G>A	c.(112-114)Gag>Aag	p.E38K	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	38	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACCTTCTTCTCATGGATGACG	0.642																																						uc003ndx.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(112-114)Gag>Aag		Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.							43	44	44					6																	24357867		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357867C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.112G>A	6.37:g.24357867C>T	ENSP00000367715:p.Glu38Lys		Somatic				DCDC2_uc003ndy.3_Missense_Mutation_p.E38K|KAAG1_uc003ndz.1_5'UTR	p.E38K	NM_016356	NP_057440	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			0	414	-		Ovarian(999;0.101)	38			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.112G>A	CCDS4550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.670544|4.670544	0.88348|0.88348	.|.	.|.	ENSG00000146038|ENSG00000146038	ENST00000378454;ENST00000451359|ENST00000436313	D|.	0.91295|.	-2.82|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Doublecortin domain (5);|.	0.116516|.	0.56097|.	D|.	0.000028|.	T|T	0.50240|0.50240	0.1604|0.1604	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.65010|.	0.931|.	T|T	0.43410|0.43410	-0.9393|-0.9393	10|5	0.13853|.	T|.	0.58|.	-23.9694|-23.9694	19.4407|19.4407	0.94820|0.94820	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	38|.	Q9UHG0|.	DCDC2_HUMAN|.	K|I	38|5	ENSP00000367715:E38K|.	ENSP00000367715:E38K|.	E|M	-|-	1|3	0|0	DCDC2|DCDC2	24465846|24465846	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.987000|0.987000	0.75469|0.75469	4.708000|4.708000	0.61859|0.61859	2.586000|2.586000	0.87340|0.87340	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.642	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		10	43	0	0	0	1	0	10	43					T	24357867	C	T	24357867	3	4	207	1	0	0	0	0	1	0	0	0	4285	835	29	2	1358	2	DCDC2	6	24357867	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		24357867	146757200	1	3749											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	36	0	0	0	1	0	10	36					T	140453136	A	T	140453136	3	4	207	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3TA-01A-12D-A22D-08		140453136	18685527	2	3750											
SSPO	23145	broad.mit.edu	37	7	149501110	149501110	+	RNA	DEL	G	G	-	rs530953664		TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr7:149501110delG	ENST00000378016.2	+	0	8246							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)			CCGGCAGCCTGGGGGGGTGCC	0.667																																						uc010lpk.3																			0											c.(8236-8238)tggfs		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.				21,3497		2,17,1740						-0.7	0.0			8	99,7475		35,29,3723	no	frameshift	SSPO	NM_198455.2		37,46,5463	A1A1,A1R,RR		1.3071,0.5969,1.0819				120,10972						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149501110delG	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149501110delG			Somatic					p.W2746fs	NM_198455	NP_940857	WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		55	8237	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2749			TSP type-1 6.		Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37	c.8237delG																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---	-	149501110	G	-	149501110	6	5	207	0	1	1	0	1	0	0	0	0	15188	1357	47	0		0	SSPO	7	149501110	RNA	DEL	G	TCGA-EL-A3TA-01A-12D-A22D-08	9047974	149501110	9637553	3	3751											
FLRT2	23768	broad.mit.edu	37	14	86089600	86089600	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr14:86089600G>A	ENST00000330753.4	+	2	2509	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.R581Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	581					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAATACAACCGGGGCCGGCGG	0.517																																						uc001xvr.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1741-1743)cGg>cAg		Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.							80	87	85					14																	86089600		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089600G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1742G>A	14.37:g.86089600G>A	ENSP00000332879:p.Arg581Gln		Somatic				FLRT2_uc010atd.3_Missense_Mutation_p.R581Q|FLRT2_uc021rxf.1_Missense_Mutation_p.R581Q	p.R581Q	NM_013231	NP_037363	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	1	2509	+			581					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1742G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547953	0.86022	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.60548	0.18;0.18	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	L	0.53249	1.67	0.58432	D	0.999999	D	0.71674	0.998	P	0.55508	0.777	T	0.69412	-0.5152	10	0.72032	D	0.01	-15.3263	20.8794	0.99867	0.0:0.0:1.0:0.0	.	581	O43155	FLRT2_HUMAN	Q	581;581;234	ENSP00000332879:R581Q;ENSP00000451050:R581Q	ENSP00000332879:R581Q	R	+	2	0	FLRT2	85159353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.809000	0.75211	2.941000	0.99782	0.655000	0.94253	CGG		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	118	0	0	0	1	0	4	118					A	86089600	G	A	86089600	3	1	207	1	0	0	0	0	1	0	0	0	5939	1116	39	1	1744	1	FLRT2	14	86089600	Missense_Mutation	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		86089600	21259940	4	3752											
NIPA1	123606	broad.mit.edu	37	15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-	rs531550505	byFrequency	TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron|NIPA1_ENST00000538684.1_5'Flank	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818														310	0.061901	0.0666	0.0519	5008	,	,		2562	0.0139		0.1014	False		,,,				2504	0.0716					uc001yvc.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(43-48)gcggcc>gcc		Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23086365_23086367delGCC	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.45_47delGGC	15.37:g.23086374_23086376delGCC	ENSP00000337452:p.Ala16del		Somatic				NIPA1_uc001yvd.3_5'UTR|NIPA1_uc001yve.3_Intron	p.15_16AA>A	NM_144599	NP_001135747	WXS	Illumina GAIIx	Phase_I	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	0	70_72	-		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)	15					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	In_Frame_Del	DEL	ENST00000337435.4	37	c.45_47delGGC	CCDS10011.1																																																																																				0.818	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		3	3						3	3	---	---	---	---	-	23086367	GCC	-	23086365	7	5	207	1	0	1	0	1	0	0	0	0	10422	1203	42	0	962	0	NIPA1	15	23086365	In_Frame_Del	DEL	GCC	TCGA-EL-A3TA-01A-12D-A22D-08		23086365	79445027	5	3753											
PITPNM3	83394	broad.mit.edu	37	17	6367996	6367996	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr17:6367996C>T	ENST00000262483.8	-	15	2073	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.M626I	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	662					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCAGAGCCACCATGTCGAGGG	0.622																																						uc002gdd.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36						c.(1984-1986)atG>atA		Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.							55	51	52					17																	6367996		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6367996C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1986G>A	17.37:g.6367996C>T	ENSP00000262483:p.Met662Ile		Somatic				PITPNM3_uc010cln.3_Missense_Mutation_p.M626I|PITPNM3_uc010clm.3_Missense_Mutation_p.M145I|PITPNM3_uc002gdc.4_Missense_Mutation_p.M253I	p.M662I	NM_031220	NP_112497	WXS	Illumina GAIIx	Phase_I	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	14	2137	-			662					A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1986G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602111	0.87055	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.47177	0.85;0.85	4.78	4.78	0.61160	.	0.083044	0.85682	D	0.000000	T	0.58352	0.2116	M	0.87269	2.87	0.51482	D	0.99992	P;P	0.39903	0.694;0.501	B;B	0.41466	0.358;0.073	T	0.66744	-0.5846	10	0.51188	T	0.08	.	15.6696	0.77262	0.0:1.0:0.0:0.0	.	626;662	F8WEW5;Q9BZ71	.;PITM3_HUMAN	I	662;626	ENSP00000262483:M662I;ENSP00000407882:M626I	ENSP00000262483:M662I	M	-	3	0	PITPNM3	6308720	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.680000	0.84062	2.358000	0.79984	0.561000	0.74099	ATG		0.622	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		8	28	0	0	0	1	0	8	28					T	6367996	C	T	6367996	3	4	207	1	0	0	0	0	1	0	0	0	11952	594	21	2	962	2	PITPNM3	17	6367996	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		6367996	74827214	6	3754											
ZSCAN18	65982	broad.mit.edu	37	19	58596319	58596319	+	Silent	SNP	G	G	A			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr19:58596319G>A	ENST00000240727.6	-	7	1665	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	ZSCAN18_ENST00000601144.1_Silent_p.F422F|ZSCAN18_ENST00000600404.1_Silent_p.F478F|ZSCAN18_ENST00000421612.2_Silent_p.F286F	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	422					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGAGCCACGCGAAGGCCTCCC	0.716																																						uc010yht.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1432-1434)ttC>ttT		Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.							21	19	20					19																	58596319		2196	4290	6486	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596319G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1266C>T	19.37:g.58596319G>A			Somatic				ZSCAN18_uc002qrj.3_Silent_p.F421F|ZSCAN18_uc010yhs.1_Silent_p.F286F|ZSCAN18_uc002qrh.2_Silent_p.F422F|ZSCAN18_uc002qri.2_Silent_p.F422F|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.F478F	NM_001145542	NP_001139014	WXS	Illumina GAIIx	Phase_I	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1464	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	422					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.1434C>T	CCDS12971.1																																																																																				0.716	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		3	8	0	0	0	1	0	3	8					A	58596319	G	A	58596319	2	1	207	1	0	0	0	0	0	0	0	1	18227	1049	37	1		1	ZSCAN18	19	58596319	Silent	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		58596319	532664	7	3755											
PKNOX1	5316	broad.mit.edu	37	21	44437073	44437073	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chr21:44437073C>A	ENST00000291547.5	+	6	789	c.578C>A	c.(577-579)gCg>gAg	p.A193E	PKNOX1_ENST00000432907.2_Missense_Mutation_p.A76E	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	193					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GTGGTGCCGGCGTCCGCGCTG	0.512																																						uc002zcq.1																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(577-579)gCg>gAg		Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.							53	49	50					21																	44437073		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44437073C>A		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.578C>A	21.37:g.44437073C>A	ENSP00000291547:p.Ala193Glu		Somatic				PKNOX1_uc002zcp.1_Missense_Mutation_p.A193E|PKNOX1_uc011aex.1_Missense_Mutation_p.A76E|PKNOX1_uc002zcr.3_Missense_Mutation_p.A193E	p.A193E	NM_004571	NP_004562	WXS	Illumina GAIIx	Phase_I	P55347	PKNX1_HUMAN			5	766	+			193					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.578C>A	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435406	0.62955	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86694	-1.89;-2.16	5.39	5.39	0.77823	.	0.052376	0.85682	D	0.000000	D	0.92110	0.7499	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.87578	0.998;0.861;0.998	D	0.90434	0.4426	10	0.30854	T	0.27	-24.7945	17.3298	0.87259	0.0:1.0:0.0:0.0	.	193;193;193	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	E	193;76	ENSP00000291547:A193E;ENSP00000402243:A76E	ENSP00000291547:A193E	A	+	2	0	PKNOX1	43310142	1.000000	0.71417	0.087000	0.20705	0.015000	0.08874	6.768000	0.74980	2.506000	0.84524	0.655000	0.94253	GCG		0.512	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			3	53	0	0	0	1	0	3	53					A	44437073	C	A	44437073	3	1	207	1	0	0	0	0	1	0	0	0	11982	768	27	4	596	4	PKNOX1	21	44437073	Missense_Mutation	SNP	C	TCGA-EL-A3TA-01A-12D-A22D-08		44437073	3692822	8	3756											
P2RY10	27334	broad.mit.edu	37	X	78216608	78216608	+	Silent	SNP	G	G	T			TCGA-EL-A3TA-01A-12D-A22D-08	TCGA-EL-A3TA-11A-12D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	895d7cda-8b78-4665-a65f-2f9cb3bd44d7	888f0871-a5ca-412f-a605-07ca39f97ff2	g.chrX:78216608G>T	ENST00000171757.2	+	4	871	c.591G>T	c.(589-591)ggG>ggT	p.G197G	P2RY10_ENST00000544091.1_Silent_p.G197G	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CGTTGGTCGGGATGATTACAG	0.453																																						uc004ede.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(589-591)ggG>ggT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 1, mRNA.							168	124	139					X																	78216608		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216608G>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.591G>T	X.37:g.78216608G>T			Somatic				P2RY10_uc004edf.3_Silent_p.G197G|P2RY10_uc022bzl.1_Silent_p.G197G	p.G197G	NM_014499	NP_938147	WXS	Illumina GAIIx	Phase_I	O00398	P2Y10_HUMAN			3	960	+			197					D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.591G>T	CCDS14442.1																																																																																				0.453	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			3	43	0	0	0	1	0	3	43					T	78216608	G	T	78216608	2	4	207	1	0	0	0	0	0	0	0	1	11347	1161	41	4		4	P2RY10	23	78216608	Silent	SNP	G	TCGA-EL-A3TA-01A-12D-A22D-08		78216608	77053952	9	3757											
VCAM1	7412	broad.mit.edu	37	1	101198093	101198093	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:101198093C>A	ENST00000294728.2	+	7	1746	c.1645C>A	c.(1645-1647)Cag>Aag	p.Q549K	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	549	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGAGCAGGCAGCTCCCTAA	0.483																																						uc001dti.3																			1	Substitution - Missense(1)	p.Q549K(2)	lung(1)	central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1645-1647)Cag>Aag		Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	Carvedilol(DB01136)						46	49	48					1																	101198093		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198093C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1645C>A	1.37:g.101198093C>A	ENSP00000294728:p.Gln549Lys		Somatic				VCAM1_uc010ouj.2_Missense_Mutation_p.Q487K|VCAM1_uc001dtj.3_Missense_Mutation_p.Q457K	p.Q549K	NM_001078	NP_001069	WXS	Illumina GAIIx	Phase_I	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1866	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	549			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1645C>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.172710	0.00315	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.57	-0.954	0.10359	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.051540	0.07249	N	0.865631	T	0.01592	0.0051	N	0.11064	0.09	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.14023	0.008;0.01;0.009	T	0.45071	-0.9286	10	0.06099	T	0.92	0.4401	10.342	0.43884	0.5996:0.3314:0.0:0.0691	.	487;457;549	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	K	487;457;549;350	ENSP00000359137:Q487K;ENSP00000304611:Q457K;ENSP00000294728:Q549K;ENSP00000359133:Q350K	ENSP00000294728:Q549K	Q	+	1	0	VCAM1	100970681	0.000000	0.05858	0.337000	0.25536	0.093000	0.18481	-0.120000	0.10660	0.060000	0.16281	-0.169000	0.13324	CAG		0.483	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		17	21	0	0	0	1	0	17	21					A	101198093	C	A	101198093	3	1	208	1	0	0	0	0	1	0	0	0	17134	711	25	4	1671	4	VCAM1	1	101198093	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		101198093	148052528	1	3758											
RBM15	64783	broad.mit.edu	37	1	110882663	110882663	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:110882663C>G	ENST00000369784.3	+	1	1536	c.636C>G	c.(634-636)agC>agG	p.S212R	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.S212R|RBM15_ENST00000602849.1_Missense_Mutation_p.S212R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	212	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTCTGGCAGCGGGGATGAGC	0.602			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dzl.1				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(634-636)agC>agG		Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.							62	64	63					1																	110882663		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding	g.chr1:110882663C>G	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.636C>G	1.37:g.110882663C>G	ENSP00000358799:p.Ser212Arg		Somatic	OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Missense_Mutation_p.S212R|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.S212R	p.S212R	NM_022768	NP_073605	WXS	Illumina GAIIx	Phase_I	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	0	719	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	212			RRM 1.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.636C>G	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403869	0.42613	.	.	ENSG00000162775	ENST00000369784	T	0.17370	2.28	4.35	4.35	0.52113	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.320649	0.23517	N	0.047333	T	0.05868	0.0153	N	0.08118	0	0.37411	D	0.913259	P;P	0.48503	0.736;0.911	P;P	0.46172	0.453;0.506	T	0.12016	-1.0564	10	0.56958	D	0.05	-10.1302	10.3684	0.44038	0.0:0.9063:0.0:0.0937	.	212;212	Q96T37-3;Q96T37	.;RBM15_HUMAN	R	212	ENSP00000358799:S212R	ENSP00000358799:S212R	S	+	3	2	RBM15	110684186	0.885000	0.30320	1.000000	0.80357	0.999000	0.98932	-0.102000	0.10956	2.706000	0.92434	0.655000	0.94253	AGC		0.602	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		37	38	0	0	0	1	0	37	38					G	110882663	C	G	110882663	3	3	208	1	0	0	0	0	1	0	0	0	13116	767	27	4	638	4	RBM15	1	110882663	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	9684570	110882663	138367958	2	3759											
GPN1	11321	broad.mit.edu	37	2	27861816	27861816	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:27861816C>A	ENST00000610189.1	+	9	642	c.635C>A	c.(634-636)gCc>gAc	p.A212D	GPN1_ENST00000515877.1_Missense_Mutation_p.A133D|GPN1_ENST00000407583.3_Missense_Mutation_p.A200D|GPN1_ENST00000424214.1_Missense_Mutation_p.A133D|GPN1_ENST00000458167.2_Missense_Mutation_p.A117D|GPN1_ENST00000264718.3_Missense_Mutation_p.A226D|GPN1_ENST00000503738.1_Missense_Mutation_p.A117D|GPN1_ENST00000461249.1_3'UTR	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						TTCCAAGATGCCTTGAATCAA	0.443																																						uc010ymc.2																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.(676-678)gCc>gAc		Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.							116	103	108					2																	27861816		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861816C>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.635C>A	2.37:g.27861816C>A	ENSP00000476446:p.Ala212Asp		Somatic				GPN1_uc010ezf.3_Missense_Mutation_p.A200D|GPN1_uc010yma.2_Missense_Mutation_p.A133D|GPN1_uc010ymb.2_Missense_Mutation_p.A117D|GPN1_uc010ymd.2_Missense_Mutation_p.A107D|GPN1_uc010ezg.1_Missense_Mutation_p.A107D	p.A226D	NM_007266	NP_001138520	WXS	Illumina GAIIx	Phase_I	Q9HCN4	GPN1_HUMAN			8	698	+			212						Missense_Mutation	SNP	ENST00000610189.1	37	c.677C>A		.	.	.	.	.	.	.	.	.	.	C	35	5.502546	0.96371	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.74647	2.275	0.80722	D	1	P;D;P;D	0.89917	0.707;1.0;0.943;0.999	P;D;P;D	0.79784	0.838;0.993;0.733;0.993	T	0.40997	-0.9533	10	0.59425	D	0.04	-2.0114	16.8827	0.86067	0.0:1.0:0.0:0.0	.	212;226;117;200	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	D	133;117;117;133;200;226	ENSP00000424678:A133D;ENSP00000427269:A117D;ENSP00000412170:A117D;ENSP00000398115:A133D;ENSP00000384255:A200D;ENSP00000264718:A226D	ENSP00000264718:A226D	A	+	2	0	GPN1	27715320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.175000	0.77632	2.773000	0.95371	0.655000	0.94253	GCC		0.443	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		5	67	0	0	0	1	0	5	67					A	27861816	C	A	27861816	3	1	208	1	0	0	0	0	1	0	0	0	6617	739	26	4	794	4	GPN1	2	27861816	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		27861816	215337557	3	3760											
ALMS1	7840	broad.mit.edu	37	2	73613087	73613089	+	In_Frame_Del	DEL	GCG	GCG	-	rs13009609		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:73613087_73613089delGCG	ENST00000264448.6	+	1	202_204	c.91_93delGCG	c.(91-93)gcgdel	p.A35del	ALMS1_ENST00000377715.1_In_Frame_Del_p.A35del|ALMS1_ENST00000409009.1_In_Frame_Del_p.A35del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	35	Glu-rich.				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						ggaggCTGCAGCGGCGGCGGCGG	0.675																																						uc002sje.1																			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.(91-93)gcgdel		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.																																				SO:0001651	inframe_deletion	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613087_73613089delGCG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.91_93delGCG	2.37:g.73613096_73613098delGCG	ENSP00000264448:p.Ala35del		Somatic				ALMS1_uc002sjf.1_In_Frame_Del_p.A35del	p.A35del	NM_015120	NP_055935	WXS	Illumina GAIIx	Phase_I	Q8TCU4	ALMS1_HUMAN			0	202_204	+			35			Glu-rich.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Del	DEL	ENST00000264448.6	37	c.91_93delGCG	CCDS42697.1																																																																																				0.675	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		2	4						2	4	---	---	---	---	-	73613089	GCG	-	73613087	7	5	208	1	0	1	0	1	0	0	0	0	535	971	34	0	93	0	ALMS1	2	73613087	In_Frame_Del	DEL	GCG	TCGA-EL-A3TB-01A-11D-A22D-08	45751271	73613087	169586286	4	3761											
TTN	7273	broad.mit.edu	37	2	179399157	179399157	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:179399157A>G	ENST00000591111.1	-	308	97486	c.97262T>C	c.(97261-97263)aTg>aCg	p.M32421T	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M31494T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M25122T|TTN_ENST00000460472.2_Missense_Mutation_p.M24997T|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M25189T|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M34062T|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CGATGCTGTCATGCGAGATTT	0.418																																						uc021vsy.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.(94480-94482)aTg>aCg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							131	131	131					2																	179399157		1938	4128	6066	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399157A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97262T>C	2.37:g.179399157A>G	ENSP00000465570:p.Met32421Thr		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M25189T|TTN_uc021vta.1_Missense_Mutation_p.M25122T|TTN_uc021vtb.1_Missense_Mutation_p.M24997T	p.M31494T	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	94706	-			32421			Ig-like 140.		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.94481T>C		.	.	.	.	.	.	.	.	.	.	A	14.43	2.532817	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.62925	0.2468	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.65446	-0.6166	9	0.87932	D	0	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	24997;25122;25189;32421	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	31494;24997;25189;25122;24994	ENSP00000343764:M31494T;ENSP00000434586:M24997T;ENSP00000340554:M25189T;ENSP00000352154:M25122T	ENSP00000340554:M25189T	M	-	2	0	TTN	179107403	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.309000	0.96252	2.304000	0.77564	0.528000	0.53228	ATG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	67	0	0	0	1	0	43	67					G	179399157	A	G	179399157	3	3	208	1	0	0	0	0	1	0	0	0	16732	217	8	3	5814	3	TTN	2	179399157	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08	105786070	179399157	63800216	5	3762											
PRKAR2A	5576	broad.mit.edu	37	3	48789079	48789079	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:48789079T>C	ENST00000265563.8	-	11	1403	c.1154A>G	c.(1153-1155)tAt>tGt	p.Y385C	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Y363C|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Y385C	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	385					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|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)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTGTTCCTCATAGTGTGAGAT	0.512																																						uc010hki.1																		SLC26A6/PRKAR2A(2)	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6						c.(1153-1155)tAt>tGt		Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA.							91	78	83					3																	48789079		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48789079T>C		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.1154A>G	3.37:g.48789079T>C	ENSP00000265563:p.Tyr385Cys		Somatic				PRKAR2A_uc003cux.1_Missense_Mutation_p.Y385C|PRKAR2A_uc003cuy.1_Missense_Mutation_p.Y363C	p.Y385C	NM_004157	NP_004148	WXS	Illumina GAIIx	Phase_I	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	10	1395	-			385					Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.1154A>G	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539716	0.85917	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	T;T;T	0.43688	0.94;0.94;0.94	6.17	6.17	0.99709	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82506	-0.0423	10	0.87932	D	0	-0.0867	16.8222	0.85835	0.0:0.0:0.0:1.0	.	363;385	Q9BUB1;P13861	.;KAP2_HUMAN	C	385;385;363	ENSP00000265563:Y385C;ENSP00000394041:Y385C;ENSP00000296446:Y363C	ENSP00000265563:Y385C	Y	-	2	0	PRKAR2A	48764083	1.000000	0.71417	0.938000	0.37757	0.994000	0.84299	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TAT		0.512	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			11	20	0	0	0	1	0	11	20					C	48789079	T	C	48789079	3	2	208	1	0	0	0	0	1	0	0	0	12505	1406	49	3	64	3	PRKAR2A	3	48789079	Missense_Mutation	SNP	T	TCGA-EL-A3TB-01A-11D-A22D-08		48789079	149233351	6	3763											
EPHA6	285220	broad.mit.edu	37	3	97202876	97202876	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:97202876A>T	ENST00000514100.1	+	7	591	c.349A>T	c.(349-351)Att>Ttt	p.I117F	EPHA6_ENST00000502694.1_Missense_Mutation_p.I117F|EPHA6_ENST00000442602.2_Missense_Mutation_p.I91F|EPHA6_ENST00000389672.5_Missense_Mutation_p.I725F	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	631	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCCTCAAGAATTCGTATTGA	0.378																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2173-2175)Att>Ttt		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							96	98	97					3																	97202876		1860	4110	5970	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97202876A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.349A>T	3.37:g.97202876A>T	ENSP00000421711:p.Ile117Phe		Somatic				EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.I91F|EPHA6_uc003drs.4_Missense_Mutation_p.I117F|EPHA6_uc003drr.4_Missense_Mutation_p.I117F|EPHA6_uc003drt.3_Missense_Mutation_p.I117F|EPHA6_uc010hox.1_Non-coding_Transcript	p.I725F	NM_001080448	NP_001073917	WXS	Illumina GAIIx	Phase_I	Q9UF33	EPHA6_HUMAN			9	2216	+			630			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2173A>T		.	.	.	.	.	.	.	.	.	.	A	25.3	4.628588	0.87560	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;D	0.87179	0.45;1.21;1.21;-2.22	5.42	5.42	0.78866	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.91486	0.7312	L	0.49699	1.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.92428	0.5951	9	0.87932	D	0	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	91;630;117;117	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	F	725;117;117;91	ENSP00000374323:I725F;ENSP00000421711:I117F;ENSP00000423950:I117F;ENSP00000403100:I91F	ENSP00000374323:I725F	I	+	1	0	EPHA6	98685566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.958000	0.93099	2.071000	0.62044	0.454000	0.30748	ATT		0.378	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		10	17	0	0	0	1	0	10	17					T	97202876	A	T	97202876	3	4	208	1	0	0	0	0	1	0	0	0	5171	101	4	5	2279	5	EPHA6	3	97202876	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08	48413797	97202876	100819554	7	3764											
F2RL1	2150	broad.mit.edu	37	5	76128981	76128981	+	Silent	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:76128981C>T	ENST00000296677.4	+	2	755	c.549C>T	c.(547-549)caC>caT	p.H183H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	183					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCATGGGGCACTCCAGGAAGA	0.488																																						uc003keo.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(547-549)caC>caT		Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.							211	191	198					5																	76128981		2203	4300	6503	SO:0001819	synonymous_variant	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76128981C>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.549C>T	5.37:g.76128981C>T			Somatic					p.H183H	NM_005242	NP_005233	WXS	Illumina GAIIx	Phase_I	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	1	724	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	183					Q13317|Q13346|Q53XJ8	Silent	SNP	ENST00000296677.4	37	c.549C>T	CCDS4033.1																																																																																				0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			7	141	0	0	0	1	0	7	141					T	76128981	C	T	76128981	2	4	208	1	0	0	0	0	0	0	0	1	5344	564	20	2		2	F2RL1	5	76128981	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		76128981	104786279	8	3765											
WWC1	23286	broad.mit.edu	37	5	167891808	167891808	+	Silent	SNP	G	G	A	rs372157598		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:167891808G>A	ENST00000265293.4	+	21	3493	c.2991G>A	c.(2989-2991)gcG>gcA	p.A997A	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.A1003A	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTGCAGGCGACAAGAACCT	0.612																																						uc011den.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(3007-3009)gcG>gcA		Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 1, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	70	68	69		3009,3009,2991	-10.3	0.2	5		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	1003/1120,1003/1119,997/1114	167891808	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891808G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2991G>A	5.37:g.167891808G>A			Somatic				WWC1_uc003lzv.3_Silent_p.A1003A|WWC1_uc003lzu.3_Silent_p.A997A|WWC1_uc003lzw.3_Silent_p.A796A|WWC1_uc010jjf.1_Silent_p.A269A	p.A1003A	NM_001161661	NP_001155133	WXS	Illumina GAIIx	Phase_I	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	20	3102	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	997			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.3009G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	1.028	-0.682876	0.03353	2.27E-4	1.16E-4	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40440	-0.9563	4	.	.	.	.	2.261	0.04067	0.215:0.3974:0.1253:0.2623	.	.	.	.	N	965;774	.	.	D	+	1	0	WWC1	167824386	0.001000	0.12720	0.239000	0.24122	0.020000	0.10135	-1.951000	0.01529	-1.772000	0.01292	-1.056000	0.02311	GAC		0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		22	41	0	0	0	1	0	22	41					A	167891808	G	A	167891808	2	1	208	1	0	0	0	0	0	0	0	1	17408	1045	37	1		1	WWC1	5	167891808	Silent	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	91762827	167891808	13023452	9	3766											
VARS	7407	broad.mit.edu	37	6	31760609	31760609	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:31760609G>A	ENST00000375663.3	-	4	1026	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	196	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTGGCTGCCGGACACACGTG	0.557																																						uc003nxe.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(586-588)Cgg>Tgg		Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	L-Valine(DB00161)						49	50	49					6																	31760609		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760609G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.586C>T	6.37:g.31760609G>A	ENSP00000364815:p.Arg196Trp		Somatic				VARS_uc011doi.1_Non-coding_Transcript	p.R196W	NM_006295	NP_006286	WXS	Illumina GAIIx	Phase_I	P26640	SYVC_HUMAN			3	1009	-			196			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.586C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235989	0.58886	.	.	ENSG00000204394	ENST00000375663	T	0.02177	4.41	5.24	5.24	0.73138	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.379447	0.27056	N	0.021145	T	0.01124	0.0037	N	0.14661	0.345	0.80722	D	1	P	0.51057	0.941	B	0.43360	0.417	T	0.68773	-0.5320	10	0.72032	D	0.01	-7.6021	14.3229	0.66499	0.0:0.0:1.0:0.0	.	196	P26640	SYVC_HUMAN	W	196	ENSP00000364815:R196W	ENSP00000364815:R196W	R	-	1	2	VARS	31868588	1.000000	0.71417	0.997000	0.53966	0.545000	0.35147	4.155000	0.58131	2.427000	0.82271	0.467000	0.42956	CGG		0.557	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		3	53	0	0	0	1	0	3	53					A	31760609	G	A	31760609	3	1	208	1	0	0	0	0	1	0	0	0	17120	1115	39	1	3316	1	VARS	6	31760609	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08		31760609	139354458	10	3767											
GRM4	2914	broad.mit.edu	37	6	34059809	34059809	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:34059809G>A	ENST00000538487.2	-	3	1030	c.587C>T	c.(586-588)tCc>tTc	p.S196F	GRM4_ENST00000609222.1_Missense_Mutation_p.S63F|GRM4_ENST00000374177.3_Missense_Mutation_p.S127F|GRM4_ENST00000374181.4_Missense_Mutation_p.S196F|GRM4_ENST00000535756.1_Missense_Mutation_p.S63F|GRM4_ENST00000455714.2_Missense_Mutation_p.S56F|GRM4_ENST00000544773.2_Missense_Mutation_p.S27F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	196					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACCACGCGGGAGAAGAAGTC	0.642																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(586-588)tCc>tTc		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						115	87	96					6																	34059809		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34059809G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.587C>T	6.37:g.34059809G>A	ENSP00000440556:p.Ser196Phe		Somatic				GRM4_uc011dsn.2_Missense_Mutation_p.S196F|GRM4_uc010jvh.3_Missense_Mutation_p.S196F|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.S115F|GRM4_uc011dsl.2_Missense_Mutation_p.S56F|GRM4_uc003oiq.3_Missense_Mutation_p.S63F|GRM4_uc011dsm.2_Missense_Mutation_p.S27F	p.S196F	NM_000841	NP_000832	WXS	Illumina GAIIx	Phase_I	Q14833	GRM4_HUMAN			1	950	-			196					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.587C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472697	0.84640	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	3.83	3.83	0.44106	Extracellular ligand-binding receptor (1);	0.000000	0.64402	U	0.000001	T	0.79828	0.4513	L	0.44542	1.39	0.80722	D	1	B;B;D;D;D;P	0.76494	0.041;0.262;0.999;0.997;0.997;0.54	B;B;D;D;D;B	0.83275	0.055;0.108;0.995;0.996;0.996;0.292	T	0.78558	-0.2158	10	0.05436	T	0.98	.	15.882	0.79211	0.0:0.0:1.0:0.0	.	196;27;56;196;196;63	B7ZLU9;B7Z1T9;F5GXM5;A1L4F9;Q14833;B3KVL9	.;.;.;.;GRM4_HUMAN;.	F	196;127;63;27;196;56	ENSP00000363296:S196F;ENSP00000363292:S127F;ENSP00000437925:S63F;ENSP00000437730:S27F;ENSP00000440556:S196F;ENSP00000398456:S56F	ENSP00000363292:S127F	S	-	2	0	GRM4	34167787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.652000	0.98499	1.961000	0.56991	0.561000	0.74099	TCC		0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			21	73	0	0	0	1	0	21	73					A	34059809	G	A	34059809	3	1	208	1	0	0	0	0	1	0	0	0	6799	1174	41	2	2187	2	GRM4	6	34059809	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	2299200	34059809	137055258	11	3768											
C6orf138	442213	broad.mit.edu	37	6	48036187	48036187	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:48036187C>A	ENST00000339488.4	-	1	238	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	PTCHD4_ENST00000543600.1_Missense_Mutation_p.D52Y	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	69						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CGCTCCAGGTCGCCCTCGGGC	0.652																																						uc011dwm.2																			0											c.(205-207)Gac>Tac		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							31	36	34					6																	48036187		1980	4162	6142	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036187C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.205G>T	6.37:g.48036187C>A	ENSP00000341914:p.Asp69Tyr		Somatic				PTCHD4_uc011dwn.2_Intron|PTCHD4_uc003ozf.2_Missense_Mutation_p.D69Y	p.D69Y	NM_001013732	NP_001013754	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			0	239	-			69					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.205G>T	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.10|15.10	2.733386|2.733386	0.48939|0.48939	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;T|.	0.95171|.	-3.63;0.17|.	4.56|4.56	3.66|3.66	0.41972|0.41972	.|.	0.194425|.	0.42682|.	D|.	0.000669|.	T|T	0.60637|0.60637	0.2284|0.2284	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.61778|0.61778	-0.6993|-0.6993	10|5	0.87932|.	D|.	0|.	.|.	14.3095|14.3095	0.66407|0.66407	0.0:0.85:0.15:0.0|0.0:0.85:0.15:0.0	.|.	69;52|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	Y|L	69;52|68	ENSP00000341914:D69Y;ENSP00000439864:D52Y|.	ENSP00000341914:D69Y|.	D|R	-|-	1|2	0|0	C6orf138|C6orf138	48144146|48144146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	4.578000|4.578000	0.60929|0.60929	0.855000|0.855000	0.35359|0.35359	0.545000|0.545000	0.68477|0.68477	GAC|CGA		0.652	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	37	0	0	0	1	0	3	37					A	48036187	C	A	48036187	3	1	208	1	0	0	0	0	1	0	0	0	2332	884	31	4	2347	4	C6orf138	6	48036187	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	13976378	48036187	123078880	12	3769											
MUC17	140453	broad.mit.edu	37	7	100685167	100685167	+	Silent	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:100685167C>T	ENST00000306151.4	+	3	10534	c.10470C>T	c.(10468-10470)acC>acT	p.T3490T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3490	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)					CACCTGTGACCACTTCTTCTC	0.488																																						uc003uxp.1																			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.(10468-10470)acC>acT		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							227	241	236					7																	100685167		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685167C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10470C>T	7.37:g.100685167C>T			Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.T3490T	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	10523	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3490			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.10470C>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		143	202	0	0	0	1	0	143	202					T	100685167	C	T	100685167	2	4	208	1	0	0	0	0	0	0	0	1	9974	581	21	2		2	MUC17	7	100685167	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		100685167	58453496	13	3770											
ST6GALNAC6	30815	broad.mit.edu	37	9	130658585	130658585	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:130658585C>T	ENST00000373146.1	-	3	232	c.53G>A	c.(52-54)gGg>gAg	p.G18E	ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G18E|ST6GALNAC6_ENST00000542456.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G18E			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	18					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCAGGTGGCCCTGGGGGCAG	0.552																																						uc004bsp.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(52-54)gGg>gAg		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.							141	137	138					9																	130658585		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130658585C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.53G>A	9.37:g.130658585C>T	ENSP00000362239:p.Gly18Glu		Somatic				ST6GALNAC6_uc004bsn.1_5'UTR|ST6GALNAC6_uc011man.1_5'UTR|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.G18E|ST6GALNAC6_uc004bsq.1_5'UTR|ST6GALNAC6_uc004bsr.2_5'UTR|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript	p.G18E			WXS	Illumina GAIIx	Phase_I	Q969X2	SIA7F_HUMAN			2	172	-			18					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.53G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905601	0.33628	.	.	ENSG00000160408	ENST00000373146;ENST00000373142;ENST00000291839	T;T;T	0.56444	1.01;0.46;1.01	3.63	2.73	0.32206	.	0.148155	0.28057	N	0.016762	T	0.35038	0.0918	N	0.19112	0.55	0.27701	N	0.945774	P	0.36683	0.565	B	0.38225	0.268	T	0.20739	-1.0266	10	0.51188	T	0.08	-18.7194	7.0273	0.24946	0.0:0.8705:0.0:0.1295	.	18	Q969X2	SIA7F_HUMAN	E	18	ENSP00000362239:G18E;ENSP00000362235:G18E;ENSP00000291839:G18E	ENSP00000291839:G18E	G	-	2	0	ST6GALNAC6	129698406	0.999000	0.42202	0.871000	0.34182	0.029000	0.11900	1.935000	0.40173	0.859000	0.35456	-0.136000	0.14681	GGG		0.552	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		42	67	0	0	0	1	0	42	67					T	130658585	C	T	130658585	3	4	208	1	0	0	0	0	1	0	0	0	15227	623	22	2	968	2	ST6GALNAC6	9	130658585	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		130658585	10554846	14	3771											
COL5A1	1289	broad.mit.edu	37	9	137655578	137655578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:137655578G>T	ENST00000371817.3	+	20	2443	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	677	Triple-helical region.			E -> K (in Ref. 1; BAA14323). {ECO:0000305}.|E -> Q (in Ref. 4; AA sequence). {ECO:0000305}.	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)		GCTGCCTGGGGAGCCCGTAAG	0.592																																						uc004cfe.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.(2029-2031)Gag>Tag		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							81	81	81					9																	137655578		2203	4300	6503	SO:0001587	stop_gained	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.chr9:137655578G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2029G>T	9.37:g.137655578G>T	ENSP00000360882:p.Glu677*		Somatic					p.E677*	NM_000093	NP_000084	WXS	Illumina GAIIx	Phase_I	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)	19	2411	+		Myeloproliferative disorder(178;0.0341)	677	E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence).		Triple-helical region.		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	c.2029G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	43	9.907908	0.99293	.	.	ENSG00000130635	ENST00000371817	.	.	.	3.9	3.9	0.45041	.	0.187884	0.39687	U	0.001287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7621	0.62973	0.0:0.0:1.0:0.0	.	.	.	.	X	677	.	ENSP00000360882:E677X	E	+	1	0	COL5A1	136795399	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.015000	0.76387	1.904000	0.55121	0.462000	0.41574	GAG		0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	81	0	0	0	1	0	4	81					T	137655578	G	T	137655578	4	4	208	1	0	0	0	0	0	1	0	0	3696	1175	41	4	2107	4	COL5A1	9	137655578	Nonsense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	6996993	137655578	3557853	15	3772											
CSGALNACT2	55454	broad.mit.edu	37	10	43654323	43654323	+	Silent	SNP	C	C	A	rs375714621		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:43654323C>A	ENST00000374466.3	+	3	1157	c.822C>A	c.(820-822)atC>atA	p.I274I	CSGALNACT2_ENST00000374464.1_Silent_p.I274I	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	274					carbohydrate metabolic process (GO:0005975)|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)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTATTAATATCATTGTGCCAC	0.378																																						uc001jan.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(820-822)atC>atA		Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	84	80	81		822	4.7	1.0	10		81	0,8600		0,0,4300	no	coding-synonymous	CSGALNACT2	NM_018590.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		274/543	43654323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43654323C>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.822C>A	10.37:g.43654323C>A			Somatic				CSGALNACT2_uc001jam.1_Silent_p.I274I	p.I274I	NM_018590	NP_061060	WXS	Illumina GAIIx	Phase_I	Q8N6G5	CGAT2_HUMAN			2	1157	+			274					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.822C>A	CCDS7201.1																																																																																				0.378	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		3	57	0	0	0	1	0	3	57					A	43654323	C	A	43654323	2	1	208	1	0	0	0	0	0	0	0	1	3939	816	29	4		4	CSGALNACT2	10	43654323	Silent	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		43654323	91880424	16	3773											
EIF3A	8661	broad.mit.edu	37	10	120797832	120797832	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:120797832G>C	ENST00000369144.3	-	20	3773	c.3646C>G	c.(3646-3648)Cgg>Ggg	p.R1216G	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1182G	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ttctcctcccgatcttgatta	0.483																																						uc001ldu.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3646-3648)Cgg>Ggg		Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.							261	214	230					10																	120797832		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797832G>C	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3646C>G	10.37:g.120797832G>C	ENSP00000358140:p.Arg1216Gly		Somatic				EIF3A_uc010qsu.2_Missense_Mutation_p.R1182G|EIF3A_uc009xzg.1_Missense_Mutation_p.R255G	p.R1216G	NM_003750	NP_003741	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3792	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1216			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3646C>G	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281260	0.40394	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26660	1.81;1.72	5.74	5.74	0.90152	.	0.000000	0.37304	N	0.002144	T	0.28134	0.0694	N	0.19112	0.55	0.35731	D	0.817922	D;B	0.56287	0.975;0.358	P;B	0.53313	0.723;0.091	T	0.10590	-1.0623	10	0.35671	T	0.21	-11.9695	15.7729	0.78184	0.0:0.0:1.0:0.0	.	1182;1216	F5H335;Q14152	.;EIF3A_HUMAN	G	1216;1182	ENSP00000358140:R1216G;ENSP00000438178:R1182G	ENSP00000358140:R1216G	R	-	1	2	EIF3A	120787822	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	3.715000	0.54897	2.873000	0.98535	0.561000	0.74099	CGG		0.483	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		3	82	0	0	0	1	0	3	82					C	120797832	G	C	120797832	3	2	208	1	0	0	0	0	1	0	0	0	5012	1057	37	4	514	4	EIF3A	10	120797832	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	77143509	120797832	14736915	17	3774											
TCP11L1	55346	broad.mit.edu	37	11	33087532	33087532	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:33087532A>G	ENST00000334274.4	+	8	1529	c.1129A>G	c.(1129-1131)Att>Gtt	p.I377V	TCP11L1_ENST00000324357.9_Missense_Mutation_p.I156V|TCP11L1_ENST00000432887.1_Missense_Mutation_p.I377V|TCP11L1_ENST00000531632.2_Missense_Mutation_p.I377V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	377						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						GATTGTGAAGATTTTGCTAAC	0.542											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mud.3																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(1129-1131)Att>Gtt		Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.							111	114	113					11																	33087532		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33087532A>G	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1129A>G	11.37:g.33087532A>G	ENSP00000335595:p.Ile377Val		Somatic	OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	837	TCP11L1_uc009yju.3_Missense_Mutation_p.I192V|TCP11L1_uc010rei.2_Missense_Mutation_p.I377V|TCP11L1_uc001mue.3_Missense_Mutation_p.I377V|TCP11L1_uc001muf.1_Non-coding_Transcript	p.I377V	NM_018393	NP_060863	WXS	Illumina GAIIx	Phase_I	Q9NUJ3	T11L1_HUMAN			7	1529	+			377					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.1129A>G	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	A	4.268	0.048872	0.08243	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.68	0.538	0.17150	.	0.414587	0.26499	N	0.024040	T	0.02848	0.0085	N	0.03281	-0.365	0.28438	N	0.916945	B	0.06786	0.001	B	0.08055	0.003	T	0.42799	-0.9430	10	0.05620	T	0.96	-50.6503	4.091	0.09970	0.2787:0.0:0.507:0.2143	.	377	Q9NUJ3	T11L1_HUMAN	V	377;377;377;156	ENSP00000335595:I377V;ENSP00000433067:I377V;ENSP00000395070:I377V;ENSP00000316279:I156V	ENSP00000316279:I156V	I	+	1	0	TCP11L1	33044108	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	2.366000	0.44204	0.086000	0.17137	0.459000	0.35465	ATT		0.542	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		45	143	0	0	0	1	0	45	143					G	33087532	A	G	33087532	3	3	208	1	0	0	0	0	1	0	0	0	15711	333	12	3	1155	3	TCP11L1	11	33087532	Missense_Mutation	SNP	A	TCGA-EL-A3TB-01A-11D-A22D-08		33087532	101918984	18	3775											
CASP5	838	broad.mit.edu	37	11	104879560	104879560	+	Missense_Mutation	SNP	G	G	A	rs201179331		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:104879560G>A	ENST00000260315.3	-	2	154	c.155C>T	c.(154-156)aCg>aTg	p.T52M	CASP5_ENST00000526056.1_Missense_Mutation_p.T65M|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.T65M|CASP5_ENST00000393139.2_Missense_Mutation_p.T19M|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	52					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTTTGATCCGTATTAGGTAC	0.373																																						uc010ruz.1																			0		p.H65Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(193-195)aCg>aTg		Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.							133	121	125					11																	104879560		2201	4298	6499	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879560G>A		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.155C>T	11.37:g.104879560G>A	ENSP00000260315:p.Thr52Met		Somatic				CASP5_uc010rva.1_Missense_Mutation_p.T52M|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.T65M	NM_001136112	NP_001129584	WXS	Illumina GAIIx	Phase_I	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	1	226	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	52			CARD.		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.194C>T	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	5.906	0.351283	0.11182	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.27890	4.64;1.64;4.66;4.64;2.7	1.45	-2.9	0.05648	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B	0.20780	0.028;0.048	B;B	0.09377	0.002;0.004	T	0.17379	-1.0371	9	0.66056	D	0.02	.	2.3436	0.04266	0.3508:0.0:0.3954:0.2537	.	52;65	P51878;P51878-5	CASP5_HUMAN;.	M	65;19;52;65;36	ENSP00000376849:T65M;ENSP00000376847:T19M;ENSP00000260315:T52M;ENSP00000436877:T65M;ENSP00000415241:T36M	ENSP00000260315:T52M	T	-	2	0	CASP5	104384770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.537000	0.02206	-1.032000	0.03304	-0.300000	0.09419	ACG		0.373	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		6	66	0	0	0	1	0	6	66					A	104879560	G	A	104879560	3	1	208	1	0	0	0	0	1	0	0	0	2674	1145	40	1	1181	1	CASP5	11	104879560	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	71792028	104879560	30126956	19	3776											
FEZ1	9638	broad.mit.edu	37	11	125359608	125359608	+	Silent	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:125359608G>A	ENST00000278919.3	-	2	300	c.66C>T	c.(64-66)gaC>gaT	p.D22D	FEZ1_ENST00000524435.1_Silent_p.D22D|FEZ1_ENST00000366139.3_Silent_p.D22D	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCCTCCGGGTCCTCCGAGC	0.542																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(64-66)gaC>gaT		Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.							69	74	72					11																	125359608		2201	4299	6500	SO:0001819	synonymous_variant	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359608G>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.66C>T	11.37:g.125359608G>A			Somatic				FEZ1_uc010sbc.2_Silent_p.D22D|FEZ1_uc001qby.2_Silent_p.D22D|FEZ1_uc021qrv.1_Silent_p.D22D	p.D22D	NM_005103	NP_005094	WXS	Illumina GAIIx	Phase_I	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	1	301	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	22					O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	c.66C>T	CCDS31716.1																																																																																				0.542	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		44	71	0	0	0	1	0	44	71					A	125359608	G	A	125359608	2	1	208	1	0	0	0	0	0	0	0	1	5823	1252	44	2		2	FEZ1	11	125359608	Silent	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08	20480048	125359608	9646908	20	3777											
ZNF609	23060	broad.mit.edu	37	15	64966384	64966384	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr15:64966384C>A	ENST00000326648.3	+	4	1459	c.1331C>A	c.(1330-1332)cCc>cAc	p.P444H	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	444						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAACAAACCCCTTTCAGAC	0.562																																						uc002ann.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1330-1332)cCc>cAc		Homo sapiens zinc finger protein 609 (ZNF609), mRNA.							72	73	72					15																	64966384		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966384C>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1331C>A	15.37:g.64966384C>A	ENSP00000316527:p.Pro444His		Somatic					p.P444H	NM_015042	NP_055857	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			3	1331	+			444					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1331C>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223625	0.58668	.	.	ENSG00000180357	ENST00000326648	T	0.52057	0.68	5.4	5.4	0.78164	.	0.046113	0.85682	D	0.000000	T	0.69611	0.3130	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.72330	-0.4326	10	0.72032	D	0.01	-15.8453	19.1915	0.93669	0.0:1.0:0.0:0.0	.	444	O15014	ZN609_HUMAN	H	444	ENSP00000316527:P444H	ENSP00000316527:P444H	P	+	2	0	ZNF609	62753437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.528000	0.85240	0.650000	0.86243	CCC		0.562	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		3	74	0	0	0	1	0	3	74					A	64966384	C	A	64966384	3	1	208	1	0	0	0	0	1	0	0	0	18032	623	22	4	1345	4	ZNF609	15	64966384	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		64966384	37565008	21	3778											
PGAP3	93210	broad.mit.edu	37	17	37842227	37842227	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:37842227G>A	ENST00000300658.4	-	2	319	c.227C>T	c.(226-228)aCc>aTc	p.T76I	PGAP3_ENST00000378011.4_Missense_Mutation_p.T76I|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000429199.2_Missense_Mutation_p.T76I|ERBB2_ENST00000584601.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank|PGAP3_ENST00000579146.1_Missense_Mutation_p.T76I	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	76					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGCCCAACGGTGACCCACAT	0.537																																						uc002hsj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(226-228)aCc>aTc		Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.							160	104	123					17																	37842227		2203	4300	6503	SO:0001583	missense	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37842227G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.227C>T	17.37:g.37842227G>A	ENSP00000300658:p.Thr76Ile		Somatic				ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010cvy.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.T76I|PGAP3_uc002hsk.3_Missense_Mutation_p.T76I|PGAP3_uc010cvz.3_Missense_Mutation_p.T76I|ERBB2_uc002hsl.3_5'Flank	p.T76I	NM_033419	NP_219487	WXS	Illumina GAIIx	Phase_I	Q96FM1	PGAP3_HUMAN			1	270	-			76					B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	c.227C>T	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947603	0.92593	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.41356	1.27	0.80722	D	1	B;P;D;D	0.53151	0.406;0.883;0.958;0.958	B;P;P;P	0.62491	0.393;0.903;0.743;0.745	T	0.56444	-0.7978	9	0.11182	T	0.66	-23.7715	17.5327	0.87819	0.0:0.0:1.0:0.0	.	76;20;76;76	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	I	76;76;20;76	.	ENSP00000300658:T76I	T	-	2	0	PGAP3	35095753	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	8.533000	0.90617	2.440000	0.82611	0.561000	0.74099	ACC		0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		3	57	0	0	0	1	0	3	57					A	37842227	G	A	37842227	3	1	208	1	0	0	0	0	1	0	0	0	11779	1261	44	2	763	2	PGAP3	17	37842227	Missense_Mutation	SNP	G	TCGA-EL-A3TB-01A-11D-A22D-08		37842227	43352983	22	3779											
KRTAP3-3	85293	broad.mit.edu	37	17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	rs146610892	byFrequency	TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:39150166C>T	ENST00000391586.1	-	1	219	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	62						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V62M(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632													C|||	7	0.00139776	0.0053	0	5008	,	,		18411	0		0	False		,,,				2504	0					uc002hvr.1																			1	Substitution - Missense(1)	p.V62M(2)|p.C61C(1)	prostate(1)	lung(2)|prostate(2)	4						c.(184-186)Gtg>Atg		Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.		C	MET/VAL	25,4381	31.7+/-61.6	0,25,2178	107	78	88		184	5.9	1.0	17	dbSNP_134	88	2,8586	2.2+/-6.3	0,2,4292	no	missense	KRTAP3-3	NM_033185.2	21	0,27,6470	TT,TC,CC		0.0233,0.5674,0.2078	probably-damaging	62/99	39150166	27,12967	2203	4294	6497	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150166C>T	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"Keratin associated proteins"	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.184G>A	17.37:g.39150166C>T	ENSP00000375428:p.Val62Met		Somatic					p.V62M	NM_033185	NP_149441	WXS	Illumina GAIIx	Phase_I	Q9BYR6	KRA33_HUMAN			0	220	-		Breast(137;0.00043)	62					Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.184G>A	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233534	0.79688	0.005674	2.33E-4	ENSG00000212899	ENST00000391586	T	0.32515	1.45	5.89	5.89	0.94794	.	0.000000	0.51477	D	0.000090	T	0.49864	0.1582	.	.	.	0.39246	D	0.963944	D	0.89917	1.0	D	0.91635	0.999	T	0.60156	-0.7318	9	0.87932	D	0	.	15.8129	0.78578	0.0:1.0:0.0:0.0	.	62	Q9BYR6	KRA33_HUMAN	M	62	ENSP00000375428:V62M	ENSP00000375428:V62M	V	-	1	0	KRTAP3-3	36403692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.511000	0.53400	2.801000	0.96364	0.650000	0.86243	GTG		0.632	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			41	46	0	0	0	1	0	41	46					T	39150166	C	T	39150166	3	4	208	1	0	0	0	0	1	0	0	0	8547	536	19	1	116	1	KRTAP3-3	17	39150166	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08	1307939	39150166	42045044	23	3780											
DCC	1630	broad.mit.edu	37	18	50734133	50734133	+	Missense_Mutation	SNP	C	C	T	rs267605206		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr18:50734133C>T	ENST00000442544.2	+	11	2423	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	DCC_ENST00000412726.1_Missense_Mutation_p.R451C|DCC_ENST00000581580.1_Missense_Mutation_p.R258C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	603	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R603C(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTATAATCGCTATGGTCC	0.353																																						uc002lfe.2																			1	Substitution - Missense(1)	p.R603C(2)	skin(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1807-1809)Cgc>Tgc		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							146	150	149					18																	50734133		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734133C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1807C>T	18.37:g.50734133C>T	ENSP00000389140:p.Arg603Cys		Somatic				DCC_uc010xdr.1_Missense_Mutation_p.R451C|DCC_uc010dpf.2_Missense_Mutation_p.R258C	p.R603C	NM_005215	NP_005206	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2423	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	603			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1807C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187618	0.38609	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57907	0.37;0.37	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.80847	2.515	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.944;0.944;0.994	T	0.77384	-0.2608	10	0.72032	D	0.01	.	18.8898	0.92395	0.0:1.0:0.0:0.0	.	451;451;603	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	C	603;536;451	ENSP00000389140:R603C;ENSP00000397322:R451C	ENSP00000304146:R536C	R	+	1	0	DCC	48988131	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.430000	0.52807	2.775000	0.95449	0.650000	0.86243	CGC		0.353	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		39	78	0	0	0	1	0	39	78					T	50734133	C	T	50734133	3	4	208	1	0	0	0	0	1	0	0	0	4282	884	31	1	1849	1	DCC	18	50734133	Missense_Mutation	SNP	C	TCGA-EL-A3TB-01A-11D-A22D-08		50734133	27343115	24	3781											
PRSSL1	400668	broad.mit.edu	37	19	687034	687034	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr19:687034T>C	ENST00000329267.7	-	4	565	c.536A>G	c.(535-537)aAg>aGg	p.K179R		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CACTCGGACCTTGGCCTCCAT	0.672																																						uc002lpl.1																			0				central_nervous_system(1)|lung(5)	6						c.(535-537)aAg>aGg		Homo sapiens protease, serine, 57 (PRSS57), mRNA.							49	46	47					19																	687034		2203	4300	6503	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:687034T>C	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"Serine peptidases / Serine peptidases"	31397	protein-coding gene	gene with protein product			"protease, serine-like 1"	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.536A>G	19.37:g.687034T>C	ENSP00000327386:p.Lys179Arg		Somatic				PRSS57_uc010xfs.1_Missense_Mutation_p.K178R	p.K179R	NM_214710	NP_999875	WXS	Illumina GAIIx	Phase_I	Q6UWY2	PRS57_HUMAN			3	567	-			179			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.536A>G	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	T	8.879	0.951256	0.18431	.	.	ENSG00000185198	ENST00000329267	D	0.88664	-2.41	4.72	3.7	0.42460	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.369009	0.19652	N	0.109185	T	0.79924	0.4530	N	0.20357	0.565	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.16289	0.015;0.015	T	0.69580	-0.5107	10	0.56958	D	0.05	.	9.0473	0.36354	0.0:0.0879:0.0:0.9121	.	178;179	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	R	179	ENSP00000327386:K179R	ENSP00000327386:K179R	K	-	2	0	PRSS57	638034	0.003000	0.15002	0.266000	0.24541	0.108000	0.19459	0.757000	0.26433	0.685000	0.31468	0.379000	0.24179	AAG		0.672	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		9	29	0	0	0	1	0	9	29					C	687034	T	C	687034	3	2	208	1	0	0	0	0	1	0	0	0	12636	1609	56	3	323	3	PRSSL1	19	687034	Missense_Mutation	SNP	T	TCGA-EL-A3TB-01A-11D-A22D-08		687034	58441949	25	3782											
FAM131C	348487	broad.mit.edu	37	1	16388993	16388993	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr1:16388993C>T	ENST00000375662.4	-	3	358		c.e3+1		FAM131C_ENST00000494078.1_Splice_Site	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C											large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCACTGACCTGCCAAGGA	0.607																																						uc001axz.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.e3+1		Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.							19	21	20					1																	16388993		1904	4109	6013	SO:0001630	splice_region_variant	348487							g.chr1:16388993C>T		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.174+1G>A	1.37:g.16388993C>T			Somatic					p.Q58_splice	NM_182623	NP_872429	WXS	Illumina GAIIx	Phase_I	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	364	-		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)	58					Q5T5Q5|Q8N3X3|Q8N9P9	Splice_Site	SNP	ENST00000375662.4	37	c.174_splice	CCDS41270.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.201980	0.58234	.	.	ENSG00000185519	ENST00000375662	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4058	0.60913	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM131C	16261580	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.444000	0.44890	2.239000	0.73571	0.561000	0.74099	.		0.607	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623	Intron	3	5	0	0	0	1	0	3	5					T	16388993	C	T	16388993	5	4	209	1	0	0	0	0	0	0	1	0	5441	521	18	2	687	2	FAM131C	1	16388993	Splice_Site	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08		16388993	232861628	1	3783											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		57	63	0	0	0	1	0	57	63					C	115256529	T	C	115256529	3	2	209	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08	98867536	115256529	133994092	2	3784											
TYW1B	441250	broad.mit.edu	37	7	72093914	72093914	+	RNA	SNP	C	C	A	rs374211694		TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr7:72093914C>A	ENST00000435769.2	-	0	1698				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										ACACGAGCTGCGCGTAGGCCT	0.527													C|||	1	0.000199681	0	0	5008	,	,		17625	0		0	False		,,,				2504	0.001					uc011kej.2																			0											c.(1570-1572)gcG>gcT		Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.							62	67	65					7																	72093914		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72093914C>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093914C>A			Somatic				TYW1B_uc011keh.1_Silent_p.A362A|TYW1B_uc011kei.2_Silent_p.A151A	p.A524A	NM_001145440	NP_001138912	WXS	Illumina GAIIx	Phase_I	Q6NUM6	TYW1B_HUMAN			13	1731	-			525					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1572G>T																																																																																					0.527	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		3	19	0	0	0	1	0	3	19					A	72093914	C	A	72093914	1	1	209	0	1	0	0	0	0	0	0	0	16816	755	27	4		4	TYW1B	7	72093914	RNA	SNP	C	TCGA-EL-A3ZH-01A-31D-A23M-08		72093914	87044749	3	3785											
CCDC136	64753	broad.mit.edu	37	7	128445518	128445518	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr7:128445518G>T	ENST00000297788.4	+	6	1255	c.888G>T	c.(886-888)atG>atT	p.M296I	CCDC136_ENST00000464832.1_Missense_Mutation_p.M346I|CCDC136_ENST00000487361.1_Missense_Mutation_p.M296I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M334I	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	296	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						ATCCTGAAATGCAGTTGTTAC	0.502																																						uc003vnv.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(886-888)atG>atT		Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.							129	129	129					7																	128445518		2006	4180	6186	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128445518G>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.888G>T	7.37:g.128445518G>T	ENSP00000297788:p.Met296Ile		Somatic				CCDC136_uc003vnu.2_Missense_Mutation_p.M334I|CCDC136_uc003vnx.2_Missense_Mutation_p.M112I|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	p.M296I	NM_022742	NP_073579	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			5	1304	+			296			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.888G>T	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.863|7.863	0.726402|0.726402	0.15439|0.15439	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	.|T;T;T;T	.|0.74106	.|1.0;0.98;-0.81;1.55	5.65|5.65	-0.858|-0.858	0.10689|0.10689	.|.	.|0.660669	.|0.16047	.|N	.|0.232148	T|T	0.57607|0.57607	0.2065|0.2065	L|L	0.38531|0.38531	1.155|1.155	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25904	.|0.012;0.137;0.009	.|B;B;B	.|0.21546	.|0.015;0.035;0.008	T|T	0.42068|0.42068	-0.9473|-0.9473	5|10	.|0.32370	.|T	.|0.25	-1.0407|-1.0407	6.7498|6.7498	0.23482|0.23482	0.0792:0.1419:0.5989:0.1801|0.0792:0.1419:0.5989:0.1801	.|.	.|296;296;334	.|C9JE17;Q96JN2;Q96JN2-3	.|.;CC136_HUMAN;.	F|I	173|334;346;296;296;296;296	.|ENSP00000367956:M334I;ENSP00000419515:M346I;ENSP00000420509:M296I;ENSP00000297788:M296I	.|ENSP00000297788:M296I	C|M	+|+	2|3	0|0	CCDC136|CCDC136	128232754|128232754	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.684000|0.684000	0.39900|0.39900	-0.168000|-0.168000	0.09925|0.09925	-0.140000|-0.140000	0.11394|0.11394	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.502	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		38	66	0	0	0	1	0	38	66					T	128445518	G	T	128445518	3	4	209	1	0	0	0	0	1	0	0	0	2770	1319	46	4	910	4	CCDC136	7	128445518	Missense_Mutation	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08	56351604	128445518	30693145	4	3786											
TOPORS	10210	broad.mit.edu	37	9	32541435	32541435	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr9:32541435G>A	ENST00000360538.2	-	3	3204	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	TOPORS_ENST00000379858.1_Missense_Mutation_p.R965W	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1030					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATGATGTCCGTGGCGATGGC	0.393																																						uc003zrb.3																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3088-3090)Cgg>Tgg		Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.							100	96	98					9																	32541435		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541435G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3088C>T	9.37:g.32541435G>A	ENSP00000353735:p.Arg1030Trp		Somatic				TOPORS_uc003zrc.3_Missense_Mutation_p.R965W	p.R1030W	NM_005802	NP_001182551	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	2	3280	-			1030					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3088C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116162	0.56505	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.19105	2.17;2.19	4.72	1.55	0.23275	.	0.000000	0.38897	N	0.001523	T	0.23611	0.0571	N	0.19112	0.55	0.29347	N	0.865591	D	0.89917	1.0	D	0.69654	0.965	T	0.03344	-1.1046	10	0.87932	D	0	-6.5977	5.7977	0.18396	0.0923:0.0:0.4041:0.5035	.	1030	Q9NS56	TOPRS_HUMAN	W	1030;965	ENSP00000353735:R1030W;ENSP00000369187:R965W	ENSP00000353735:R1030W	R	-	1	2	TOPORS	32531435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.026000	0.30103	0.674000	0.31244	0.650000	0.86243	CGG		0.393	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		4	62	0	0	0	1	0	4	62					A	32541435	G	A	32541435	3	1	209	1	0	0	0	0	1	0	0	0	16367	1144	40	1	53	1	TOPORS	9	32541435	Missense_Mutation	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08		32541435	108671996	5	3787											
MLL	4297	broad.mit.edu	37	11	118362606	118362606	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr11:118362606A>C	ENST00000389506.5	+	15	4958	c.4958A>C	c.(4957-4959)aAt>aCt	p.N1653T	KMT2A_ENST00000354520.4_Missense_Mutation_p.N1615T|KMT2A_ENST00000534358.1_Missense_Mutation_p.N1656T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1653					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCTTTGTTGAATTCTCGGACT	0.473																																						uc001ptb.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(4966-4968)aAt>aCt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							52	51	51					11																	118362606		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118362606A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4958A>C	11.37:g.118362606A>C	ENSP00000374157:p.Asn1653Thr		Somatic				MLL_uc001pta.3_Missense_Mutation_p.N1653T|MLL_uc001pte.1_Non-coding_Transcript	p.N1656T	NM_001197104	NP_001184033	WXS	Illumina GAIIx	Phase_I	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	14	4990	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1653					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4967A>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362840	0.61403	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.90324	-1.61;-1.62;-1.55;-2.65	5.75	5.75	0.90469	Bromodomain (1);	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.972;0.996	P;D	0.65140	0.875;0.932	D	0.93666	0.6986	10	0.66056	D	0.02	.	16.0681	0.80903	1.0:0.0:0.0:0.0	.	1656;1653	E9PQG7;Q03164	.;MLL1_HUMAN	T	1656;1653;1615;563;365	ENSP00000436786:N1656T;ENSP00000374157:N1653T;ENSP00000346516:N1615T;ENSP00000376612:N365T	ENSP00000346516:N1615T	N	+	2	0	MLL	117867816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.891000	0.69782	2.188000	0.69820	0.528000	0.53228	AAT		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	51	0	0	0	1	0	5	51					C	118362606	A	C	118362606	3	2	209	1	0	0	0	0	1	0	0	0	9620	101	4	5	5016	5	MLL	11	118362606	Missense_Mutation	SNP	A	TCGA-EL-A3ZH-01A-31D-A23M-08		118362606	16643910	6	3788											
EFCAB4B	84766	broad.mit.edu	37	12	3788151	3788151	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr12:3788151T>C	ENST00000252322.1	-	6	922	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.M152V|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.M152V	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		152					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCGCCCATGTCGCCCAGA	0.532																																						uc010sen.1																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(454-456)Atg>Gtg		Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.							206	166	179					12																	3788151		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788151T>C																												ENST00000252322.1:c.454A>G	12.37:g.3788151T>C	ENSP00000252322:p.Met152Val		Somatic				EFCAB4B_uc001qmj.2_Missense_Mutation_p.M152V	p.M152V	NM_001144958	NP_001138430	WXS	Illumina GAIIx	Phase_I	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		5	1026	-			152					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.454A>G	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	T	0.707	-0.788760	0.02884	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.59638	0.25;2.71;2.73	4.38	-3.17	0.05202	.	0.956485	0.08808	N	0.890749	T	0.37019	0.0988	L	0.39020	1.185	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.19353	-1.0308	10	0.26408	T	0.33	-3.7883	0.9736	0.01421	0.1506:0.174:0.309:0.3664	.	152;152;152	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	V	152	ENSP00000409382:M152V;ENSP00000412496:M152V;ENSP00000252322:M152V	ENSP00000252322:M152V	M	-	1	0	EFCAB4B	3658412	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.193000	0.09573	-0.824000	0.04295	0.459000	0.35465	ATG		0.532	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			48	74	0	0	0	1	0	48	74					C	3788151	T	C	3788151	3	2	209	1	0	0	0	0	1	0	0	0	4937	1464	51	3	1993	3	EFCAB4B	12	3788151	Missense_Mutation	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08		3788151	130063744	7	3789											
ATXN2L	11273	broad.mit.edu	37	16	28846948	28846948	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr16:28846948A>C	ENST00000336783.4	+	21	2931	c.2764A>C	c.(2764-2766)Acg>Ccg	p.T922P	ATXN2L_ENST00000395547.2_Missense_Mutation_p.T922P|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T922P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T922P|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T922P|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T928P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T922P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	922					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGACAGGCACGCCGCCCTC	0.672																																						uc002dqy.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2764-2766)Acg>Ccg		Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.							39	39	39					16																	28846948		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846948A>C		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2764A>C	16.37:g.28846948A>C	ENSP00000338718:p.Thr922Pro		Somatic				NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T922P|ATXN2L_uc002dra.3_Missense_Mutation_p.T922P|ATXN2L_uc002drb.3_Missense_Mutation_p.T922P|ATXN2L_uc002drc.3_Missense_Mutation_p.T922P|ATXN2L_uc010vdb.2_Missense_Mutation_p.T928P|ATXN2L_uc002dre.3_Missense_Mutation_p.T922P|ATXN2L_uc002drf.3_Missense_Mutation_p.T331P|ATXN2L_uc002drg.3_Missense_Mutation_p.T205P	p.T922P	NM_148414	NP_680780	WXS	Illumina GAIIx	Phase_I	Q8WWM7	ATX2L_HUMAN			20	2931	+			922					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2764A>C	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	18.14	3.557872	0.65425	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.70986	-0.41;-0.53;-0.48;-0.43;-0.45	5.82	5.82	0.92795	.	0.070599	0.64402	D	0.000020	T	0.77177	0.4092	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.999;0.998;0.999	D;D;D;D;D;D	0.80764	0.987;0.987;0.994;0.994;0.987;0.994	T	0.75510	-0.3292	10	0.33940	T	0.23	-10.331	15.1603	0.72778	1.0:0.0:0.0:0.0	.	922;922;922;922;922;922	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	P	922	ENSP00000341459:T922P;ENSP00000378917:T922P;ENSP00000338718:T922P;ENSP00000372133:T922P;ENSP00000315650:T922P	ENSP00000315650:T922P	T	+	1	0	ATXN2L	28754449	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.024000	0.76443	2.222000	0.72286	0.383000	0.25322	ACG		0.672	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		15	34	0	0	0	1	0	15	34					C	28846948	A	C	28846948	3	2	209	1	0	0	0	0	1	0	0	0	1212	159	6	5	2846	5	ATXN2L	16	28846948	Missense_Mutation	SNP	A	TCGA-EL-A3ZH-01A-31D-A23M-08		28846948	61507805	8	3790											
MED15	51586	broad.mit.edu	37	22	20909296	20909296	+	Silent	SNP	G	G	C			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chr22:20909296G>C	ENST00000263205.7	+	5	381	c.312G>C	c.(310-312)cgG>cgC	p.R104R	MED15_ENST00000406969.1_Silent_p.R78R|MED15_ENST00000541476.1_Silent_p.R78R|MED15_ENST00000292733.7_Silent_p.R104R|MED15_ENST00000425759.2_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	104					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TGCCTCCTCGGGGCCCGGGAC	0.647																																						uc002zsp.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(310-312)cgG>cgC		Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.							40	43	42					22																	20909296		2203	4300	6503	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20909296G>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.312G>C	22.37:g.20909296G>C			Somatic				MED15_uc002zsn.1_Silent_p.R23R|MED15_uc002zso.2_Intron|MED15_uc002zsq.3_Silent_p.R104R|MED15_uc010gso.3_Silent_p.R104R|MED15_uc002zsr.3_Silent_p.R78R|MED15_uc011ahs.2_Silent_p.R78R|MED15_uc011aht.1_Silent_p.R78R|MED15_uc002zss.3_Silent_p.R23R	p.R104R	NM_001003891	NP_001003891	WXS	Illumina GAIIx	Phase_I	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		4	392	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	104					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.312G>C	CCDS33602.1																																																																																				0.647	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		5	50	0	0	0	1	0	5	50					C	20909296	G	C	20909296	2	2	209	1	0	0	0	0	0	0	0	1	9433	1219	43	4		4	MED15	22	20909296	Silent	SNP	G	TCGA-EL-A3ZH-01A-31D-A23M-08		20909296	30395270	9	3791											
BRCC3	79184	broad.mit.edu	37	X	154305462	154305462	+	Silent	SNP	T	T	A			TCGA-EL-A3ZH-01A-31D-A23M-08	TCGA-EL-A3ZH-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc31e6b-07a9-4f0e-b3f3-9005473057fa	14208ab1-4d73-4805-9538-8f63d23152a3	g.chrX:154305462T>A	ENST00000369462.1	+	4	238	c.213T>A	c.(211-213)atT>atA	p.I71I	BRCC3_ENST00000340647.4_Silent_p.I72I|BRCC3_ENST00000369459.2_Silent_p.I71I|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Silent_p.I71I|BRCC3_ENST00000399042.1_Silent_p.I71I	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	71	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCGTCAGAATTGTTCACATTC	0.413																																						uc004fna.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(211-213)atT>atA		Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.							109	94	98					X																	154305462		1885	4100	5985	SO:0001819	synonymous_variant	79184				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154305462T>A	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.213T>A	X.37:g.154305462T>A			Somatic				BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Silent_p.I71I|BRCC3_uc011mzy.2_Silent_p.I72I	p.I71I	NM_024332	NP_077308	WXS	Illumina GAIIx	Phase_I	P46736	BRCC3_HUMAN			3	321	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		71					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Silent	SNP	ENST00000369462.1	37	c.213T>A	CCDS56611.1																																																																																				0.413	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		20	30	0	0	0	1	0	20	30					A	154305462	T	A	154305462	2	1	209	1	0	0	0	0	0	0	0	1	1500	1800	63	5		5	BRCC3	23	154305462	Silent	SNP	T	TCGA-EL-A3ZH-01A-31D-A23M-08		154305462	965098	10	3792											
ADRA2B	151	broad.mit.edu	37	2	96781258	96781258	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:96781258C>A	ENST00000409345.3	-	1	726	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	211			G -> A (in dbSNP:rs9333568). {ECO:0000269|Ref.6}.		activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCAGGCCCCCCCTTGGCCCTG	0.622																																						uc021vlh.1																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(631-633)Ggg>Tgg		Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						31	35	34					2																	96781258		2038	4174	6212	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781258C>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.631G>T	2.37:g.96781258C>A	ENSP00000387281:p.Gly211Trp		Somatic					p.G211W	NM_000682	NP_000673	WXS	Illumina GAIIx	Phase_I	P18089	ADA2B_HUMAN			0	631	-			211		G -> A (in dbSNP:rs9333568).			Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.631G>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214555	0.09810	.	.	ENSG00000222040	ENST00000409345	T	0.72725	-0.68	4.97	-1.15	0.09709	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.71804	0.3383	M	0.91249	3.19	0.09310	N	1	B	0.13145	0.007	B	0.20577	0.03	T	0.66878	-0.5812	9	0.72032	D	0.01	.	4.5321	0.12010	0.0:0.3194:0.3294:0.3511	.	211	P18089	ADA2B_HUMAN	W	211	ENSP00000387281:G211W	ENSP00000387281:G211W	G	-	1	0	ADRA2B	96144985	0.000000	0.05858	0.002000	0.10522	0.345000	0.29048	-0.014000	0.12656	-0.083000	0.12618	-1.808000	0.00615	GGG		0.622	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			13	29	0	0	0	1	0	13	29					A	96781258	C	A	96781258	3	1	210	1	0	0	0	0	1	0	0	0	338	623	22	4	716	4	ADRA2B	2	96781258	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08		96781258	146418115	1	3793											
TGFBRAP1	9392	broad.mit.edu	37	2	105924122	105924122	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr2:105924122C>T	ENST00000393359.2	-	2	1063	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V213I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	213	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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						ATCCTCTTGACGATCGGCGGC	0.592																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.3																			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.(637-639)Gtc>Atc		Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.							96	108	103					2																	105924122		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.chr2:105924122C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.637G>A	2.37:g.105924122C>T	ENSP00000377027:p.Val213Ile		Somatic				TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V213I	p.V213I	NM_004257	NP_004248	WXS	Illumina GAIIx	Phase_I	Q8WUH2	TGFA1_HUMAN			1	721	-			213			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.637G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094654	0.94149	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.05382	3.45;3.45	5.32	5.32	0.75619	Citron-like (2);	0.068722	0.64402	D	0.000016	T	0.08582	0.0213	L	0.33668	1.02	0.80722	D	1	P	0.48640	0.913	P	0.46076	0.503	T	0.43163	-0.9408	10	0.13470	T	0.59	-42.3827	19.1899	0.93660	0.0:1.0:0.0:0.0	.	213	Q8WUH2	TGFA1_HUMAN	I	213	ENSP00000377027:V213I;ENSP00000258449:V213I	ENSP00000258449:V213I	V	-	1	0	TGFBRAP1	105290554	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.907000	0.69908	2.760000	0.94817	0.655000	0.94253	GTC		0.592	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		13	161	0	0	0	1	0	13	161					T	105924122	C	T	105924122	3	4	210	1	0	0	0	0	1	0	0	0	15821	536	19	1	1989	1	TGFBRAP1	2	105924122	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	9142864	105924122	137275251	2	3794											
DOCK2	1794	broad.mit.edu	37	5	169474617	169474617	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr5:169474617G>A	ENST00000256935.8	+	40	4150	c.4070G>A	c.(4069-4071)cGg>cAg	p.R1357Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.R849Q|DOCK2_ENST00000540750.1_Splice_Site_p.R418Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTCCTGCGGGTGAGTTTG	0.542																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.e40+1		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							66	66	66					5																	169474617		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	g.chr5:169474617G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4071+1G>A	5.37:g.169474617G>A			Somatic				DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.R849_splice	p.R1357_splice	NM_004946	NP_004937	WXS	Illumina GAIIx	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		40	4151	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1357			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Splice_Site	SNP	ENST00000256935.8	37	c.4071_splice	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100157	0.76983	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.10573	3.52;3.15;2.86	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.51853	1.615	0.45946	D	0.998777	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	T	0.00958	-1.1500	10	0.25106	T	0.35	.	18.7624	0.91858	0.0:0.0:1.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	1357;849;418	ENSP00000256935:R1357Q;ENSP00000429283:R849Q;ENSP00000438827:R418Q	ENSP00000256935:R1357Q	R	+	2	0	DOCK2	169407195	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.869000	0.99810	2.419000	0.82065	0.561000	0.74099	CGG		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Missense_Mutation	5	83	0	0	0	1	0	5	83					A	169474617	G	A	169474617	5	1	210	1	0	0	0	0	0	0	1	0	4687	1130	39	1	4228	1	DOCK2	5	169474617	Splice_Site	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		169474617	11440643	3	3795											
DNAJB9	4189	broad.mit.edu	37	7	108213643	108213643	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:108213643T>C	ENST00000249356.3	+	3	1064	c.518T>C	c.(517-519)aTg>aCg	p.M173T	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	173					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTGAAGATATGGAGAAAATG	0.393																																						uc003vfn.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(517-519)aTg>aCg		Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 9 (DNAJB9), mRNA.							145	144	144					7																	108213643		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108213643T>C	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.518T>C	7.37:g.108213643T>C	ENSP00000249356:p.Met173Thr		Somatic					p.M173T	NM_012328	NP_036460	WXS	Illumina GAIIx	Phase_I	Q9UBS3	DNJB9_HUMAN			2	887	+			173						Missense_Mutation	SNP	ENST00000249356.3	37	c.518T>C	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295580	0.40594	.	.	ENSG00000128590	ENST00000249356	T	0.60548	0.18	5.86	5.86	0.93980	.	0.086852	0.85682	D	0.000000	T	0.53334	0.1790	M	0.67953	2.075	0.80722	D	1	P	0.38978	0.652	B	0.30855	0.121	T	0.56269	-0.8007	9	.	.	.	.	15.448	0.75248	0.0:0.0:0.0:1.0	.	173	Q9UBS3	DNJB9_HUMAN	T	173	ENSP00000249356:M173T	.	M	+	2	0	DNAJB9	108000879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.477000	0.81069	2.240000	0.73641	0.533000	0.62120	ATG		0.393	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			52	93	0	0	0	1	0	52	93					C	108213643	T	C	108213643	3	2	210	1	0	0	0	0	1	0	0	0	4627	1464	51	3	524	3	DNAJB9	7	108213643	Missense_Mutation	SNP	T	TCGA-EL-A3ZK-01A-21D-A23M-08		108213643	50925020	4	3796											
RNF148	378925	broad.mit.edu	37	7	122342453	122342453	+	Missense_Mutation	SNP	C	C	T	rs189837730	byFrequency	TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr7:122342453C>T	ENST00000434824.1	-	1	568	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	118	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCTGCTGCCACGTTGATTTTA	0.483													C|||	3	0.000599042	0	0	5008	,	,		20581	0.003		0	False		,,,				2504	0					uc003vkk.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(352-354)Gtg>Atg		Homo sapiens ring finger protein 148 (RNF148), mRNA.							221	219	220					7																	122342453		2035	4183	6218	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342453C>T	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.352G>A	7.37:g.122342453C>T	ENSP00000388207:p.Val118Met		Somatic				CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.V118M	NM_198085	NP_932351	WXS	Illumina GAIIx	Phase_I	Q8N7C7	RN148_HUMAN			0	569	-			118			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.352G>A	CCDS47692.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	9.699	1.153993	0.21371	.	.	ENSG00000235631	ENST00000434824	T	0.08896	3.04	4.95	3.1	0.35709	Protease-associated domain, PA (1);	.	.	.	.	T	0.06508	0.0167	L	0.55834	1.745	0.80722	D	1	B	0.17038	0.02	B	0.24541	0.054	T	0.12243	-1.0555	9	0.30078	T	0.28	.	9.2719	0.37677	0.2638:0.4795:0.2567:0.0	.	118	Q8N7C7	RN148_HUMAN	M	118	ENSP00000388207:V118M	ENSP00000388207:V118M	V	-	1	0	RNF148	122129689	0.092000	0.21681	0.988000	0.46212	0.998000	0.95712	0.602000	0.24134	0.567000	0.29293	0.555000	0.69702	GTG		0.483	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		31	271	0	0	0	1	0	31	271					T	122342453	C	T	122342453	3	4	210	1	0	0	0	0	1	0	0	0	13449	536	19	1	569	1	RNF148	7	122342453	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	14128810	122342453	36796210	5	3797											
ADAMTS8	11095	broad.mit.edu	37	11	130289047	130289047	+	Silent	SNP	C	C	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr11:130289047C>A	ENST00000257359.6	-	2	1567	c.861G>T	c.(859-861)ggG>ggT	p.G287G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	287	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCAGTGTAAGCCCCCCATTGT	0.557																																						uc001qgg.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(859-861)ggG>ggT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.							153	163	160					11																	130289047		2006	4176	6182	SO:0001819	synonymous_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130289047C>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.861G>T	11.37:g.130289047C>A			Somatic					p.G287G	NM_007037	NP_008968	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	1	1219	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	287			Peptidase M12B.		Q9NZS0	Silent	SNP	ENST00000257359.6	37	c.861G>T	CCDS41732.1																																																																																				0.557	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		80	184	0	0	0	1	0	80	184					A	130289047	C	A	130289047	2	1	210	1	0	0	0	0	0	0	0	1	272	726	26	4		4	ADAMTS8	11	130289047	Silent	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08		130289047	4717469	6	3798											
BICD1	636	broad.mit.edu	37	12	32480404	32480404	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr12:32480404G>A	ENST00000281474.5	+	5	1118	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	BICD1_ENST00000548411.1_Missense_Mutation_p.E339K	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	339					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)			GGTAGAGCGGGAAAAGGCCAT	0.507																																						uc001rku.3																			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.(1015-1017)Gaa>Aaa		Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.							83	82	82					12																	32480404		2203	4300	6503	SO:0001583	missense	636				RNA processing|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|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton	g.chr12:32480404G>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1015G>A	12.37:g.32480404G>A	ENSP00000281474:p.Glu339Lys		Somatic				BICD1_uc001rkv.3_Missense_Mutation_p.E339K|BICD1_uc010skd.2_Non-coding_Transcript	p.E339K	NM_001714	NP_001705	WXS	Illumina GAIIx	Phase_I	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		4	1096	+	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)		339					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1015G>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902452	0.92035	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.61392	0.11;0.11	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.77792	-0.2455	10	0.41790	T	0.15	.	19.1424	0.93450	0.0:0.0:1.0:0.0	.	339;339	F8W113;Q96G01	.;BICD1_HUMAN	K	339	ENSP00000446793:E339K;ENSP00000281474:E339K	ENSP00000281474:E339K	E	+	1	0	BICD1	32371671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.597000	0.87782	0.655000	0.94253	GAA		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		31	84	0	0	0	1	0	31	84					A	32480404	G	A	32480404	3	1	210	1	0	0	0	0	1	0	0	0	1428	1175	41	2	1033	2	BICD1	12	32480404	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		32480404	101371491	7	3799											
TMEM146	257062	broad.mit.edu	37	19	5749174	5749174	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:5749174G>A	ENST00000381624.3	+	11	1028	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	323					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCTGGGCATCGTGCCAAGTTC	0.438																																						uc002mda.3																			0											c.(967-969)Gtg>Atg		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.							86	86	86					19																	5749174		1875	4107	5982	SO:0001583	missense	257062					integral to membrane		g.chr19:5749174G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.967G>A	19.37:g.5749174G>A	ENSP00000371037:p.Val323Met		Somatic				CATSPERD_uc010duj.1_5'UTR	p.V323M	NM_152784	NP_689997	WXS	Illumina GAIIx	Phase_I	Q86XM0	TM146_HUMAN			10	1028	+			323					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.967G>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	10.85	1.467278	0.26335	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.22945	1.93	3.26	0.932	0.19466	.	0.387969	0.14997	U	0.286320	T	0.10809	0.0264	N	0.11427	0.14	0.09310	N	0.999996	B	0.24675	0.109	B	0.16722	0.016	T	0.25813	-1.0121	10	0.28530	T	0.3	-1.9269	5.5105	0.16878	0.2342:0.5496:0.2161:0.0	.	323	Q86XM0	TM146_HUMAN	M	249;323	ENSP00000371037:V323M	ENSP00000371037:V323M	V	+	1	0	TMEM146	5700174	0.000000	0.05858	0.011000	0.14972	0.139000	0.21198	-0.195000	0.09546	0.347000	0.23924	-0.630000	0.03990	GTG		0.438	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		24	41	0	0	0	1	0	24	41					A	5749174	G	A	5749174	3	1	210	1	0	0	0	0	1	0	0	0	16057	1145	40	1	1009	1	TMEM146	19	5749174	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08		5749174	53379809	8	3800											
ZFP36	7538	broad.mit.edu	37	19	39898883	39898883	+	Silent	SNP	G	G	A	rs535257605		TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:39898883G>A	ENST00000248673.3	+	2	583	c.525G>A	c.(523-525)ccG>ccA	p.P175P	ZFP36_ENST00000597629.1_Silent_p.P181P|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	175					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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 tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGGCCCCGGGCCACCCTC	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		15145	0		0	False		,,,				2504	0				NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(523-525)ccG>ccA		Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.							54	67	62					19																	39898883		2202	4298	6500	SO:0001819	synonymous_variant	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898883G>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.525G>A	19.37:g.39898883G>A			Somatic					p.P175P	NM_003407	NP_003398	WXS	Illumina GAIIx	Phase_I	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	583	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		175					B2RA54	Silent	SNP	ENST00000248673.3	37	c.525G>A																																																																																					0.667	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				48	96	0	0	0	1	0	48	96					A	39898883	G	A	39898883	2	1	210	1	0	0	0	0	0	0	0	1	17642	1103	39	1		1	ZFP36	19	39898883	Silent	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08	34149709	39898883	19230100	9	3801											
EPS8L1	54869	broad.mit.edu	37	19	55594786	55594786	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chr19:55594786G>A	ENST00000201647.6	+	13	1311	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	EPS8L1_ENST00000586329.1_Missense_Mutation_p.E401K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E292K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E355K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E73K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	419					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATACAGACCCGAGTTCTTCAG	0.672																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1255-1257)Gag>Aag		Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.							13	16	15					19																	55594786		2130	4149	6279	SO:0001583	missense	54869					cytoplasm		g.chr19:55594786G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1255G>A	19.37:g.55594786G>A	ENSP00000201647:p.Glu419Lys		Somatic				EPS8L1_uc010ess.1_Missense_Mutation_p.E401K|EPS8L1_uc010est.1_Missense_Mutation_p.E419K|EPS8L1_uc010yfr.2_Missense_Mutation_p.E355K|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.E292K|EPS8L1_uc002qiv.3_Missense_Mutation_p.E65K|EPS8L1_uc002qiw.3_Missense_Mutation_p.E166K	p.E419K	NM_133180	NP_573441	WXS	Illumina GAIIx	Phase_I	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1359	+			419					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1255G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	6.514	0.462969	0.12402	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.05319	3.7;3.46;3.47	3.51	2.46	0.29980	.	0.614309	0.15712	N	0.248341	T	0.02848	0.0085	N	0.24115	0.695	0.31608	N	0.651927	B;B;B;B;B	0.33857	0.429;0.048;0.041;0.008;0.018	B;B;B;B;B	0.20184	0.028;0.013;0.013;0.004;0.005	T	0.29549	-1.0008	10	0.02654	T	1	-7.8796	7.1314	0.25504	0.1332:0.0:0.8668:0.0	.	355;401;166;292;419	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	K	401;419;355;292;73	ENSP00000201647:E419K;ENSP00000437541:E355K;ENSP00000245618:E292K	ENSP00000201647:E419K	E	+	1	0	EPS8L1	60286598	0.210000	0.23517	0.545000	0.28153	0.555000	0.35460	1.283000	0.33237	0.597000	0.29811	0.561000	0.74099	GAG		0.672	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		3	17	0	0	0	1	0	3	17					A	55594786	G	A	55594786	3	1	210	1	0	0	0	0	1	0	0	0	5195	1059	37	1	1353	1	EPS8L1	19	55594786	Missense_Mutation	SNP	G	TCGA-EL-A3ZK-01A-21D-A23M-08	15695903	55594786	3534197	10	3802											
PPEF1	5475	broad.mit.edu	37	X	18807364	18807364	+	Silent	SNP	A	A	G			TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:18807364A>G	ENST00000361511.4	+	13	1532	c.1038A>G	c.(1036-1038)gaA>gaG	p.E346E	PPEF1_ENST00000544635.1_Silent_p.E281E|PPEF1_ENST00000543630.1_Silent_p.E346E|PPEF1_ENST00000349874.5_Silent_p.E346E|PPEF1_ENST00000359763.6_Silent_p.E293E	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	346	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)					CTCCTACTGAACACTTAACAG	0.418																																						uc004cyq.3																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1036-1038)gaA>gaG		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							129	100	110					X																	18807364		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:18807364A>G	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1038A>G	X.37:g.18807364A>G			Somatic				PPEF1_uc004cyp.3_Intron|PPEF1_uc004cyr.3_Silent_p.E346E|PPEF1_uc004cys.3_Silent_p.E346E|PPEF1_uc011mja.2_Silent_p.E281E|PPEF1_uc011mjb.2_Silent_p.E290E	p.E346E	NM_006240	NP_006231	WXS	Illumina GAIIx	Phase_I	O14829	PPE1_HUMAN			12	1519	+	Hepatocellular(33;0.183)		346			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1038A>G	CCDS14188.1																																																																																				0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		7	122	0	0	0	1	0	7	122					G	18807364	A	G	18807364	2	3	210	1	0	0	0	0	0	0	0	1	12307	40	2	3		3	PPEF1	23	18807364	Silent	SNP	A	TCGA-EL-A3ZK-01A-21D-A23M-08		18807364	136463196	11	3803											
ATP11C	286410	broad.mit.edu	37	X	138869347	138869347	+	Missense_Mutation	SNP	C	C	G	rs147128476		TCGA-EL-A3ZK-01A-21D-A23M-08	TCGA-EL-A3ZK-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e1f945-6fff-42da-942f-700994b8480a	8390a8cb-3b27-42e8-950c-e57ee71dd5b9	g.chrX:138869347C>G	ENST00000327569.3	-	15	1684	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	ATP11C_ENST00000361648.2_Missense_Mutation_p.R529T|ATP11C_ENST00000370557.1_Missense_Mutation_p.R526T|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.R529T|ATP11C_ENST00000359686.2_Missense_Mutation_p.R529T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	529					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATTTCTTTTCTTTGGTTCTC	0.348																																						uc004faz.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1585-1587)aGa>aCa		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							114	88	97					X																	138869347		2202	4299	6501	SO:0001583	missense	286410				ATP biosynthetic process	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.chrX:138869347C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1586G>C	X.37:g.138869347C>G	ENSP00000332756:p.Arg529Thr		Somatic				ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R529T	p.R529T	NM_173694	NP_775965	WXS	Illumina GAIIx	Phase_I	Q8NB49	AT11C_HUMAN			14	1685	-	Acute lymphoblastic leukemia(192;0.000127)		529					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1586G>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307512	0.23821	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.76	4.79	0.61399	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.210800	0.47093	D	0.000260	T	0.31513	0.0799	N	0.02736	-0.51	0.37695	D	0.924005	B;B	0.10296	0.001;0.003	B;B	0.15870	0.004;0.014	T	0.28427	-1.0044	10	0.33141	T	0.24	.	3.5993	0.08019	0.0:0.6415:0.0:0.3585	.	529;529	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	T	526;529;529;529;529	ENSP00000359588:R526T;ENSP00000355165:R529T;ENSP00000332756:R529T;ENSP00000359574:R529T;ENSP00000352715:R529T	ENSP00000332756:R529T	R	-	2	0	ATP11C	138697013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.873000	0.39558	2.422000	0.82143	0.594000	0.82650	AGA		0.348	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		22	59	0	0	0	1	0	22	59					G	138869347	C	G	138869347	3	3	210	1	0	0	0	0	1	0	0	0	1121	913	32	4	1939	4	ATP11C	23	138869347	Missense_Mutation	SNP	C	TCGA-EL-A3ZK-01A-21D-A23M-08	120061983	138869347	16401213	12	3804											
FAM162B	221303	broad.mit.edu	37	6	117086593	117086593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr6:117086593delG	ENST00000368557.4	-	1	293	c.147delC	c.(145-147)cccfs	p.P49fs		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	49						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						CAGAATTGCTGGGGGCCCCGC	0.771																																						uc003pxi.2																			0				large_intestine(2)|lung(4)	6						c.(145-147)cccfs		Homo sapiens family with sequence similarity 162, member B (FAM162B), mRNA.							3	4	4					6																	117086593		1649	3784	5433	SO:0001589	frameshift_variant	221303					integral to membrane		g.chr6:117086593delG	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.147delC	6.37:g.117086593delG	ENSP00000357545:p.Pro49fs		Somatic					p.P49fs	NM_001085480	NP_001078949	WXS	Illumina GAIIx	Phase_I	Q5T6X4	F162B_HUMAN			0	294	-			49					Q8IXW8	Frame_Shift_Del	DEL	ENST00000368557.4	37	c.147delC	CCDS43497.1																																																																																				0.771	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		2	4						2	4	---	---	---	---	-	117086593	G	-	117086593	7	5	211	1	0	1	0	1	0	0	0	0	5475	1335	47	0	357	0	FAM162B	6	117086593	Frame_Shift_Del	DEL	G	TCGA-EL-A3ZN-01A-11D-A23M-08		117086593	54028474	1	3805											
PGR	5241	broad.mit.edu	37	11	100922214	100922214	+	Silent	SNP	T	T	C			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr11:100922214T>C	ENST00000325455.5	-	5	3751	c.2298A>G	c.(2296-2298)agA>agG	p.R766R	PGR_ENST00000263463.5_Silent_p.R664R|PGR_ENST00000534013.1_Silent_p.R172R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	766	Steroid-binding.				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)	GTTTGTAGGATCTCCATCCTA	0.343																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			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.(2296-2298)agA>agG		Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						126	123	124					11																	100922214		2203	4300	6503	SO:0001819	synonymous_variant	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.chr11:100922214T>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2298A>G	11.37:g.100922214T>C			Somatic				PGR_uc001pgg.2_Silent_p.R147R|PGR_uc001pgi.2_Silent_p.R664R|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	p.R766R	NM_000926	NP_000917	WXS	Illumina GAIIx	Phase_I	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)	4	3041	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	766			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.2298A>G	CCDS8310.1																																																																																				0.343	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			24	45	0	0	0	1	0	24	45					C	100922214	T	C	100922214	2	2	211	1	0	0	0	0	0	0	0	1	11805	1432	50	3		3	PGR	11	100922214	Silent	SNP	T	TCGA-EL-A3ZN-01A-11D-A23M-08		100922214	34084302	2	3806											
KIAA1683	80726	broad.mit.edu	37	19	18368857	18368857	+	Silent	SNP	G	G	A			TCGA-EL-A3ZN-01A-11D-A23M-08	TCGA-EL-A3ZN-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a9cae6-bfb5-44e3-a869-2afeb05d7cb8	5fdac115-dce2-4082-b319-ff754a29233f	g.chr19:18368857G>A	ENST00000600328.3	-	4	2869	c.2676C>T	c.(2674-2676)gcC>gcT	p.A892A	KIAA1683_ENST00000600359.3_Silent_p.A846A|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.A1079A			Q9H0B3	K1683_HUMAN	KIAA1683	892						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCACCCCTGGCTGGCTCCC	0.657																																						uc010ebn.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3235-3237)gcC>gcT		Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.							62	62	62					19																	18368857		2202	4294	6496	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368857G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2676C>T	19.37:g.18368857G>A			Somatic				PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.A892A|KIAA1683_uc010xqe.1_Silent_p.A846A|KIAA1683_uc010xqf.1_Non-coding_Transcript	p.A1079A	NM_001145304	NP_001138776	WXS	Illumina GAIIx	Phase_I	Q9H0B3	K1683_HUMAN			3	3453	-			1090					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3237C>T	CCDS32958.1																																																																																				0.657	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			48	123	0	0	0	1	0	48	123					A	18368857	G	A	18368857	2	1	211	1	0	0	0	0	0	0	0	1	8251	1335	47	2		2	KIAA1683	19	18368857	Silent	SNP	G	TCGA-EL-A3ZN-01A-11D-A23M-08		18368857	40760126	3	3807											
NTNG1	22854	broad.mit.edu	37	1	107867092	107867092	+	Silent	SNP	A	A	C			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr1:107867092A>C	ENST00000370068.1	+	3	1281	c.435A>C	c.(433-435)acA>acC	p.T145T	NTNG1_ENST00000370073.2_Silent_p.T145T|NTNG1_ENST00000370061.3_Silent_p.T145T|NTNG1_ENST00000370070.2_Silent_p.T145T|NTNG1_ENST00000542803.1_Silent_p.T145T|NTNG1_ENST00000370066.1_Silent_p.T145T|NTNG1_ENST00000370071.2_Silent_p.T145T|NTNG1_ENST00000370065.1_Silent_p.T145T|NTNG1_ENST00000370072.3_Silent_p.T145T|NTNG1_ENST00000370067.1_Silent_p.T145T|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370074.4_Silent_p.T145T			Q9Y2I2	NTNG1_HUMAN	netrin G1	145	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTGAGCTAACAGACAACATAG	0.463																																						uc001dvh.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(433-435)acA>acC		Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.							101	105	103					1																	107867092		2203	4299	6502	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867092A>C	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.435A>C	1.37:g.107867092A>C			Somatic				NTNG1_uc001dvc.4_Silent_p.T145T|NTNG1_uc010out.2_Silent_p.T145T|NTNG1_uc001dvf.4_Silent_p.T145T|NTNG1_uc001dvd.1_Silent_p.T145T	p.T145T	NM_001113226	NP_001106697	WXS	Illumina GAIIx	Phase_I	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	1153	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	145			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.435A>C	CCDS44180.1																																																																																				0.463	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		29	51	0	0	0	1	0	29	51					C	107867092	A	C	107867092	2	2	212	1	0	0	0	0	0	0	0	1	10704	175	7	5		5	NTNG1	1	107867092	Silent	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		107867092	141383529	1	3808											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	28	0	0	0	1	0	17	28					T	140453136	A	T	140453136	3	4	212	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		140453136	18685527	2	3809											
TG	7038	broad.mit.edu	37	8	133895206	133895207	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr8:133895206_133895207insG	ENST00000220616.4	+	8	1077_1078	c.1037_1038insG	c.(1036-1041)atgcatfs	p.H347fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.H347fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	347	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		GGGAAGGAAATGCATGGAACCC	0.614																																						uc003ytw.3																			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.(1036-1038)atgfs		Homo sapiens thyroglobulin (TG), mRNA.																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133895206_133895207insG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1038dupG	8.37:g.133895207_133895207dupG	ENSP00000220616:p.His347fs		Somatic					p.M346fs	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	7	1078_1079	+	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)	346			Thyroglobulin type-1 4.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.1037_1038insG	CCDS34944.1																																																																																				0.614	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	26						20	26	---	---	---	---	G	133895207	-	G	133895206	7	5	212	1	0	1	1	0	0	0	0	0	15810	1464	51	0	1067	0	TG	8	133895206	Frame_Shift_Ins	INS	-	TCGA-EL-A3ZQ-01A-11D-A23M-08		133895206	12468816	3	3810											
DIP2C	22982	broad.mit.edu	37	10	459978	459978	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr10:459978C>G	ENST00000280886.6	-	8	1019	c.932G>C	c.(931-933)gGc>gCc	p.G311A	DIP2C_ENST00000381496.3_Missense_Mutation_p.G204A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	311						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTGACCACGCCCAGCTGCTC	0.627																																						uc001ifp.3																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(931-933)gGc>gCc		Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.							49	52	51					10																	459978		2203	4299	6502	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:459978C>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.932G>C	10.37:g.459978C>G	ENSP00000280886:p.Gly311Ala		Somatic				DIP2C_uc009xhj.1_Missense_Mutation_p.G7A	p.G311A	NM_014974	NP_055789	WXS	Illumina GAIIx	Phase_I	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	7	1022	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	311					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.932G>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969294	0.34754	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.45668	0.89;0.89	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.58428	1.81	0.80722	D	1	B;B	0.17038	0.02;0.0	B;B	0.16722	0.016;0.001	T	0.37291	-0.9712	10	0.08599	T	0.76	-26.2516	18.7949	0.91990	0.0:1.0:0.0:0.0	.	204;311	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	A	311;204	ENSP00000280886:G311A;ENSP00000370907:G204A	ENSP00000280886:G311A	G	-	2	0	DIP2C	449978	1.000000	0.71417	0.948000	0.38648	0.303000	0.27691	7.776000	0.85560	2.427000	0.82271	0.655000	0.94253	GGC		0.627	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		27	76	0	0	0	1	0	27	76					G	459978	C	G	459978	3	3	212	1	0	0	0	0	1	0	0	0	4529	739	26	4	3858	4	DIP2C	10	459978	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		459978	135074769	4	3811											
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr11:49208318C>T	ENST00000256999.2	-	5	777	c.517G>A	c.(517-519)Gat>Aat	p.D173N	FOLH1_ENST00000340334.7_Missense_Mutation_p.D158N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173N|FOLH1_ENST00000533034.1_Missense_Mutation_p.D158N|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TACACTAGATCGCCCTGTTGA	0.393																																						uc001ngy.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(517-519)Gat>Aat		Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	Capromab(DB00089)|L-Glutamic Acid(DB00142)						90	89	89					11																	49208318		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49208318C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.517G>A	11.37:g.49208318C>T	ENSP00000256999:p.Asp173Asn		Somatic				FOLH1_uc009yly.3_Missense_Mutation_p.D158N|FOLH1_uc009ylz.3_Missense_Mutation_p.D158N|FOLH1_uc001ngz.3_Missense_Mutation_p.D173N|FOLH1_uc009yma.3_5'UTR	p.D173N	NM_004476	NP_001180402	WXS	Illumina GAIIx	Phase_I	Q04609	FOLH1_HUMAN			4	778	-			173					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.517G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392086	0.42410	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	3.05	3.05	0.35203	Protease-associated domain, PA (1);	0.236753	0.29266	N	0.012650	T	0.09555	0.0235	L	0.52266	1.64	0.80722	D	1	B;B;B;B	0.25169	0.119;0.04;0.06;0.002	B;B;B;B	0.25759	0.063;0.021;0.039;0.003	T	0.11494	-1.0585	10	0.46703	T	0.11	.	11.9601	0.53003	0.0:1.0:0.0:0.0	.	158;158;173;173	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	173;173;158;158;173	ENSP00000256999:D173N;ENSP00000349129:D173N;ENSP00000344131:D158N;ENSP00000431463:D158N	ENSP00000256999:D173N	D	-	1	0	FOLH1	49164894	1.000000	0.71417	0.990000	0.47175	0.636000	0.38137	6.933000	0.75874	1.746000	0.51805	0.430000	0.28490	GAT		0.393	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	32	0	0	0	1	0	14	32					T	49208318	C	T	49208318	3	4	212	1	0	0	0	0	1	0	0	0	5979	884	31	1	1795	1	FOLH1	11	49208318	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08		49208318	85798198	5	3812											
ACSS3	79611	broad.mit.edu	37	12	81503376	81503376	+	Missense_Mutation	SNP	G	G	A	rs368706037		TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr12:81503376G>A	ENST00000548058.1	+	2	1259	c.349G>A	c.(349-351)Gtt>Att	p.V117I	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.V116I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	117						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTACAATGCCGTTGATCGTCA	0.323																																						uc001szl.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(349-351)Gtt>Att		Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	108	106	107		349	0.4	1.0	12		107	0,8598		0,0,4299	no	missense	ACSS3	NM_024560.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	117/687	81503376	1,13003	2203	4299	6502	SO:0001583	missense	79611					mitochondrion	ATP binding|acetate-CoA ligase activity	g.chr12:81503376G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.349G>A	12.37:g.81503376G>A	ENSP00000449535:p.Val117Ile		Somatic				ACSS3_uc001szm.1_Missense_Mutation_p.V116I	p.V117I	NM_024560	NP_078836	WXS	Illumina GAIIx	Phase_I	Q9H6R3	ACSS3_HUMAN			1	440	+			117					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.349G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655604	0.29425	2.27E-4	0.0	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	T;T;T	0.47528	0.84;2.9;2.9	6.07	0.424	0.16468	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.161948	0.53938	N	0.000060	T	0.27798	0.0684	N	0.21097	0.63	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.03545	-1.1026	10	0.33940	T	0.23	-7.6977	6.4092	0.21682	0.4976:0.1319:0.3705:0.0	.	117	Q9H6R3	ACSS3_HUMAN	I	9;117;116	ENSP00000447748:V9I;ENSP00000449535:V117I;ENSP00000261206:V116I	ENSP00000261206:V116I	V	+	1	0	ACSS3	80027507	0.991000	0.36638	0.976000	0.42696	0.870000	0.49936	0.255000	0.18333	-0.119000	0.11830	-1.052000	0.02337	GTT		0.323	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		3	26	0	0	0	1	0	3	26					A	81503376	G	A	81503376	3	1	212	1	0	0	0	0	1	0	0	0	190	1145	40	1	355	1	ACSS3	12	81503376	Missense_Mutation	SNP	G	TCGA-EL-A3ZQ-01A-11D-A23M-08		81503376	52348519	6	3813											
SMAD9	4093	broad.mit.edu	37	13	37453538	37453538	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr13:37453538G>A	ENST00000399275.2	-	1	428	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SMAD9_ENST00000379826.4_Missense_Mutation_p.R97C|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C			O15198	SMAD9_HUMAN	SMAD family member 9	97	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.R97C(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCGGCCAGCGCCACACGCGA	0.612																																						uc001uvw.3																			2	Substitution - Missense(2)	p.R97C(3)|p.W96C(1)	kidney(2)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(289-291)Cgc>Tgc		Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.							33	36	35					13																	37453538		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453538G>A		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.289C>T	13.37:g.37453538G>A	ENSP00000382216:p.Arg97Cys		Somatic				SMAD9_uc001uvx.3_Missense_Mutation_p.R97C|SMAD9_uc010tep.2_5'UTR	p.R97C	NM_001127217	NP_001120689	WXS	Illumina GAIIx	Phase_I	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	1	632	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	97			MH1.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.289C>T	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615679	0.66672	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.80738	-1.41;-1.41;-1.41	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	H	0.95539	3.685	0.80722	D	1	D;D	0.71674	0.998;0.997	P;D	0.64877	0.801;0.93	D	0.93621	0.6948	10	0.87932	D	0	.	13.4247	0.61018	0.0:0.0:0.8432:0.1568	.	97;97	O15198-2;O15198	.;SMAD9_HUMAN	C	97	ENSP00000382216:R97C;ENSP00000239885:R97C;ENSP00000369154:R97C	ENSP00000239885:R97C	R	-	1	0	SMAD9	36351538	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	6.460000	0.73518	2.599000	0.87857	0.563000	0.77884	CGC		0.612	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		4	56	0	0	0	1	0	4	56					A	37453538	G	A	37453538	3	1	212	1	0	0	0	0	1	0	0	0	14764	1087	38	1	1138	1	SMAD9	13	37453538	Missense_Mutation	SNP	G	TCGA-EL-A3ZQ-01A-11D-A23M-08		37453538	77716340	7	3814											
UGGT2	55757	broad.mit.edu	37	13	96705526	96705526	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr13:96705526A>T	ENST00000376747.3	-	1	111	c.41T>A	c.(40-42)cTa>cAa	p.L14Q	UGGT2_ENST00000397618.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376712.4_Missense_Mutation_p.L14Q|UGGT2_ENST00000376714.3_Missense_Mutation_p.L14Q	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	14					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTGGAGCCTAGTAGCAGCCG	0.687																																						uc001vmt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(40-42)cTa>cAa		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.							9	9	9					13																	96705526		2149	4198	6347	SO:0001583	missense	55757				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96705526A>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.41T>A	13.37:g.96705526A>T	ENSP00000365938:p.Leu14Gln		Somatic				UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.L14Q	p.L14Q	NM_020121	NP_064506	WXS	Illumina GAIIx	Phase_I	Q9NYU1	UGGG2_HUMAN			0	211	-			14					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.41T>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993327	0.74703	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.36699	2.89;1.24	4.08	4.08	0.47627	.	0.549730	0.17455	N	0.173655	T	0.57227	0.2039	M	0.76574	2.34	0.26092	N	0.980948	D;D;B	0.76494	0.999;0.999;0.272	D;D;B	0.85130	0.997;0.997;0.042	T	0.49000	-0.8984	10	0.87932	D	0	-7.1028	9.6163	0.39694	1.0:0.0:0.0:0.0	.	14;14;14	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	Q	14	ENSP00000365938:L14Q;ENSP00000380743:L14Q	ENSP00000365902:L14Q	L	-	2	0	UGGT2	95503527	0.473000	0.25878	0.179000	0.23059	0.004000	0.04260	1.814000	0.38972	1.841000	0.53522	0.379000	0.24179	CTA		0.687	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		5	11	0	0	0	1	0	5	11					T	96705526	A	T	96705526	3	4	212	1	0	0	0	0	1	0	0	0	16939	420	15	5	4665	5	UGGT2	13	96705526	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08	59251988	96705526	18464352	8	3815											
SMCR8	140775	broad.mit.edu	37	17	18219366	18219366	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:18219366A>G	ENST00000406438.3	+	1	743	c.263A>G	c.(262-264)aAt>aGt	p.N88S	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	88						nucleus (GO:0005634)		p.N88S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTGATCTCAATTACTTCTCC	0.507																																						uc002gsy.4																			1	Substitution - Missense(1)	p.N88S(2)	kidney(1)	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.(262-264)aAt>aGt		Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.							204	186	192					17																	18219366		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219366A>G	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.263A>G	17.37:g.18219366A>G	ENSP00000385025:p.Asn88Ser		Somatic					p.N88S	NM_144775	NP_658988	WXS	Illumina GAIIx	Phase_I	Q8TEV9	SMCR8_HUMAN			0	773	+			88					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.263A>G	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695730	0.68386	.	.	ENSG00000176994	ENST00000406438	T	0.29655	1.56	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.51156	-0.8741	10	0.56958	D	0.05	-16.7337	16.1605	0.81700	1.0:0.0:0.0:0.0	.	88	Q8TEV9	SMCR8_HUMAN	S	88	ENSP00000385025:N88S	ENSP00000385025:N88S	N	+	2	0	SMCR8	18160091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.829000	0.92055	2.220000	0.72140	0.533000	0.62120	AAT		0.507	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		69	111	0	0	0	1	0	69	111					G	18219366	A	G	18219366	3	3	212	1	0	0	0	0	1	0	0	0	14792	101	4	3	265	3	SMCR8	17	18219366	Missense_Mutation	SNP	A	TCGA-EL-A3ZQ-01A-11D-A23M-08		18219366	62975844	9	3816											
USH1G	124590	broad.mit.edu	37	17	72916218	72916218	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZQ-01A-11D-A23M-08	TCGA-EL-A3ZQ-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4694460d-de2a-4b9e-9391-dc57816752bf	a51fd081-0952-40bf-8412-b293d88100dc	g.chr17:72916218C>T	ENST00000319642.1	-	2	895	c.713G>A	c.(712-714)cGc>cAc	p.R238H		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	238					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGCGCTCTTGCGCCCATCCTC	0.687																																						uc002jme.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(712-714)cGc>cAc		Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.							38	43	42					17																	72916218		2198	4279	6477	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916218C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.713G>A	17.37:g.72916218C>T	ENSP00000320076:p.Arg238His		Somatic				USH1G_uc010wro.1_Missense_Mutation_p.R135H	p.R238H	NM_173477	NP_775748	WXS	Illumina GAIIx	Phase_I	Q495M9	USH1G_HUMAN			1	896	-	all_lung(278;0.172)|Lung NSC(278;0.207)		238					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.713G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472612	0.84640	.	.	ENSG00000182040	ENST00000319642	T	0.74209	-0.82	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85180	0.1003	10	0.52906	T	0.07	-25.7575	15.9969	0.80256	0.0:1.0:0.0:0.0	.	238	Q495M9	USH1G_HUMAN	H	238	ENSP00000320076:R238H	ENSP00000320076:R238H	R	-	2	0	USH1G	70427813	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.604000	0.82830	2.075000	0.62263	0.485000	0.47835	CGC		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		7	104	0	0	0	1	0	7	104					T	72916218	C	T	72916218	3	4	212	1	0	0	0	0	1	0	0	0	17032	768	27	1	680	1	USH1G	17	72916218	Missense_Mutation	SNP	C	TCGA-EL-A3ZQ-01A-11D-A23M-08	54696852	72916218	8278992	10	3817											
POMGNT1	55624	broad.mit.edu	37	1	46663383	46663383	+	Silent	SNP	T	T	C			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr1:46663383T>C	ENST00000371984.3	-	2	268	c.111A>G	c.(109-111)agA>agG	p.R37R	POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371992.1_Silent_p.R37R|POMGNT1_ENST00000371986.3_Silent_p.R37R|POMGNT1_ENST00000396420.3_Silent_p.R37R	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	37					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCTGACAGAATCTCCGCAGGG	0.602																																						uc001cpg.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(109-111)agA>agG		Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.							71	76	74					1																	46663383		2203	4300	6503	SO:0001819	synonymous_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46663383T>C		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.111A>G	1.37:g.46663383T>C			Somatic				POMGNT1_uc010olx.2_5'Flank|POMGNT1_uc010oly.2_5'Flank|POMGNT1_uc010olz.2_5'Flank|POMGNT1_uc001cpe.3_Silent_p.R37R|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cpj.3_Silent_p.R37R	p.R37R	NM_001243766	NP_001230695	WXS	Illumina GAIIx	Phase_I	Q8WZA1	PMGT1_HUMAN			1	762	-	Acute lymphoblastic leukemia(166;0.155)		37					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	c.111A>G	CCDS531.1																																																																																				0.602	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		31	76	0	0	0	1	0	31	76					C	46663383	T	C	46663383	2	2	213	1	0	0	0	0	0	0	0	1	12243	1432	50	3		3	POMGNT1	1	46663383	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		46663383	202587238	1	3818											
RDH14	57665	broad.mit.edu	37	2	18736681	18736681	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr2:18736681A>T	ENST00000381249.3	-	2	894	c.787T>A	c.(787-789)Ttg>Atg	p.L263M	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	263					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	GGTTTGACCAACAGTGGAATG	0.473																																						uc010exr.3																			0											c.(1729-1731)Ttg>Atg		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							185	177	180					2																	18736681		2203	4300	6503	SO:0001583	missense	100526794				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18736681A>T	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19979	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 4"		"retinol dehydrogenase 14 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.787T>A	2.37:g.18736681A>T	ENSP00000370648:p.Leu263Met		Somatic				NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Missense_Mutation_p.L263M	p.L577M	NM_001199103	NP_001186032	WXS	Illumina GAIIx	Phase_I	Q96P26	5NT1B_HUMAN			8	1841	-			0						Missense_Mutation	SNP	ENST00000381249.3	37	c.1729T>A	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234650	0.58886	.	.	ENSG00000240857	ENST00000381249	D	0.82081	-1.57	5.67	0.0741	0.14393	NAD(P)-binding domain (1);	.	.	.	.	T	0.79845	0.4516	N	0.25426	0.745	0.50467	D	0.999876	D	0.61697	0.99	P	0.56434	0.798	T	0.75852	-0.3171	9	0.45353	T	0.12	.	10.4886	0.44737	0.4383:0.0:0.5617:0.0	.	263	Q9HBH5	RDH14_HUMAN	M	263	ENSP00000370648:L263M	ENSP00000370648:L263M	L	-	1	2	RDH14	18600162	0.998000	0.40836	0.975000	0.42487	0.918000	0.54935	1.962000	0.40442	0.100000	0.17581	0.533000	0.62120	TTG		0.473	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			47	133	0	0	0	1	0	47	133					T	18736681	A	T	18736681	3	4	213	1	0	0	0	0	1	0	0	0	13193	40	2	5	227	5	RDH14	2	18736681	Missense_Mutation	SNP	A	TCGA-EL-A3ZR-01A-11D-A23M-08		18736681	224462692	2	3819											
EPC2	26122	broad.mit.edu	37	2	149528907	149528907	+	Silent	SNP	T	T	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr2:149528907T>G	ENST00000258484.6	+	10	1705	c.1671T>G	c.(1669-1671)gtT>gtG	p.V557V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	557					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)		ATAAAAGAGTTTCTGCAGCAT	0.383																																						uc010zbt.2																			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.(1669-1671)gtT>gtG		Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.							133	127	129					2																	149528907		1880	4100	5980	SO:0001819	synonymous_variant	26122				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528907T>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1671T>G	2.37:g.149528907T>G			Somatic					p.V557V	NM_015630	NP_056445	WXS	Illumina GAIIx	Phase_I	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	9	1698	+			557					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	c.1671T>G	CCDS46422.1																																																																																				0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		19	76	0	0	0	1	0	19	76					G	149528907	T	G	149528907	2	3	213	1	0	0	0	0	0	0	0	1	5161	1828	64	5		5	EPC2	2	149528907	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08	130792226	149528907	93670466	3	3820											
PPP1R3B	79660	broad.mit.edu	37	8	8998675	8998675	+	Silent	SNP	T	T	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr8:8998675T>G	ENST00000310455.3	-	2	637	c.487A>C	c.(487-489)Agg>Cgg	p.R163R	PPP1R3B_ENST00000519699.1_Silent_p.R163R|RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	163	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)		AACGTCATCCTTATTTTCACG	0.512																																						uc003wsn.4																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(487-489)Agg>Cgg		Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.							231	196	208					8																	8998675		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998675T>G	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.487A>C	8.37:g.8998675T>G			Somatic				PPP1R3B_uc003wso.4_Silent_p.R163R|PPP1R3B_uc022arp.1_Silent_p.R163R	p.R163R	NM_024607	NP_078883	WXS	Illumina GAIIx	Phase_I	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	1	652	-			163			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.487A>C	CCDS5973.1																																																																																				0.512	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		80	84	0	0	0	1	0	80	84					G	8998675	T	G	8998675	2	3	213	1	0	0	0	0	0	0	0	1	12372	1608	56	5		5	PPP1R3B	8	8998675	Silent	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		8998675	137365347	4	3821											
BNC2	54796	broad.mit.edu	37	9	16436472	16436472	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:16436472T>C	ENST00000380672.4	-	6	1777	c.1720A>G	c.(1720-1722)Aga>Gga	p.R574G	BNC2_ENST00000545497.1_Missense_Mutation_p.R479G|BNC2_ENST00000380666.2_Missense_Mutation_p.R574G|BNC2_ENST00000380667.2_Missense_Mutation_p.R507G	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGTAAACTTCTATAAAATGGA	0.507																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1720-1722)Aga>Gga		Homo sapiens basonuclin 2 (BNC2), mRNA.							48	54	52					9																	16436472		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436472T>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1720A>G	9.37:g.16436472T>C	ENSP00000370047:p.Arg574Gly		Somatic				BNC2_uc011lmw.2_Missense_Mutation_p.R479G|BNC2_uc003zmm.3_Missense_Mutation_p.R532G|BNC2_uc003zmq.1_Missense_Mutation_p.R588G|BNC2_uc003zmr.1_Missense_Mutation_p.R611G|BNC2_uc003zmp.1_Missense_Mutation_p.R602G|BNC2_uc010mij.1_Missense_Mutation_p.R496G|BNC2_uc011lmv.2_Missense_Mutation_p.R400G|BNC2_uc003zmo.1_Missense_Mutation_p.R496G|BNC2_uc003zmj.3_Missense_Mutation_p.R339G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R339G|BNC2_uc003zmn.1_Missense_Mutation_p.R339G	p.R574G	NM_017637	NP_060107	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	1860	-			574			Pro-rich.			Missense_Mutation	SNP	ENST00000380672.4	37	c.1720A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290609	0.40494	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.51817	0.69;0.7;0.76;0.72;0.7	6.07	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.989;0.998;0.999;0.981;0.998;0.998;0.998	D;D;D;D;D;D;D;D;D	0.78314	0.934;0.981;0.985;0.968;0.991;0.95;0.987;0.987;0.981	T	0.65701	-0.6104	10	0.49607	T	0.09	-12.2417	13.0682	0.59046	0.0:0.0:0.2286:0.7714	.	479;507;574;400;574;531;574;479;339	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	G	574;531;507;479;400;574;574	ENSP00000370047:R574G;ENSP00000408370:R531G;ENSP00000370042:R507G;ENSP00000444640:R479G;ENSP00000370041:R574G	ENSP00000370041:R574G	R	-	1	2	BNC2	16426472	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.438000	0.44837	2.326000	0.78906	0.533000	0.62120	AGA		0.507	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		30	62	0	0	0	1	0	30	62					C	16436472	T	C	16436472	3	2	213	1	0	0	0	0	1	0	0	0	1475	1530	53	3	1587	3	BNC2	9	16436472	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		16436472	124776959	5	3822											
ABO	28	broad.mit.edu	37	9	136131223	136131223	+	RNA	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr9:136131223C>T	ENST00000453660.2	-	0	905				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCGTGCCACACGGCCTCGATG	0.662																																						uc004cda.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11						c.(892-894)Gtg>Atg		Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.							57	66	63					9																	136131223		2114	4227	6341			28				protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131223C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131223C>T			Somatic				ABO_uc010naf.1_Missense_Mutation_p.V158M|ABO_uc011mcz.1_Missense_Mutation_p.V158M|ABO_uc010nag.1_Missense_Mutation_p.V158M	p.V298M	NM_020469	NP_065202	WXS	Illumina GAIIx	Phase_I	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	7	917	-			299					B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37	c.892G>A																																																																																					0.662	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		18	75	0	0	0	1	0	18	75					T	136131223	C	T	136131223	1	4	213	0	1	0	0	0	0	0	0	0	97	536	19	1		1	ABO	9	136131223	RNA	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	119694751	136131223	5082208	6	3823											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		80	71	0	0	0	1	0	80	71					C	533874	T	C	533874	3	2	213	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08		533874	134472642	7	3824											
MUC5B	727897	broad.mit.edu	37	11	1271213	1271213	+	Missense_Mutation	SNP	C	C	A	rs555257212		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:1271213C>A	ENST00000529681.1	+	31	13161	c.13103C>A	c.(13102-13104)aCg>aAg	p.T4368K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T4371K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4368	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTGACCACGAAGGCCACC	0.642																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13102-13104)aCg>aAg		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							91	109	103					11																	1271213		2126	4219	6345	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271213C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13103C>A	11.37:g.1271213C>A	ENSP00000436812:p.Thr4368Lys		Somatic					p.T4368K	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	13162	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4368			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13103C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	6.387	0.439594	0.12104	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.24908	1.83;2.0	2.88	-3.33	0.04958	.	.	.	.	.	T	0.17704	0.0425	L	0.54323	1.7	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.18871	0.023;0.023	T	0.40289	-0.9571	9	0.87932	D	0	.	0.8629	0.01197	0.4016:0.2808:0.1641:0.1536	.	4841;4371	A7Y9J9;E9PBJ0	.;.	K	4368;4371;4312;4218;147	ENSP00000436812:T4368K;ENSP00000415793:T4371K	ENSP00000343037:T4312K	T	+	2	0	MUC5B	1227789	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.133000	0.10451	-0.130000	0.11599	0.184000	0.17185	ACG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		133	91	0	0	0	1	0	133	91					A	1271213	C	A	1271213	3	1	213	1	0	0	0	0	1	0	0	0	9979	536	19	4	13234	4	MUC5B	11	1271213	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	737339	1271213	133735303	8	3825											
SMTNL1	219537	broad.mit.edu	37	11	57310279	57310279	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:57310279A>G	ENST00000399154.2	+	1	164	c.164A>G	c.(163-165)aAg>aGg	p.K55R	SMTNL1_ENST00000457912.1_Missense_Mutation_p.K73R|SMTNL1_ENST00000527972.1_Missense_Mutation_p.K55R			A8MU46	SMTL1_HUMAN	smoothelin-like 1	55	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AAGCAGGAAAAGGCACCAGCC	0.567																																						uc021qjh.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(163-165)aAg>aGg		Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.							47	53	51					11																	57310279		1998	4176	6174	SO:0001583	missense	219537							g.chr11:57310279A>G	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.164A>G	11.37:g.57310279A>G	ENSP00000382108:p.Lys55Arg		Somatic					p.K55R	NM_001105565	NP_001099035	WXS	Illumina GAIIx	Phase_I	E9PPJ3	E9PPJ3_HUMAN			0	166	+			55						Missense_Mutation	SNP	ENST00000399154.2	37	c.164A>G		.	.	.	.	.	.	.	.	.	.	A	1.139	-0.650054	0.03506	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	D;D;T	0.93712	-3.27;-3.25;4.23	5.05	-0.241	0.13043	.	1.298600	0.06333	N	0.706457	T	0.78155	0.4239	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69881	-0.5025	10	0.02654	T	1	-2.0282	0.4087	0.00437	0.2972:0.1949:0.1258:0.3822	.	73	C9J621	.	R	73;55;55	ENSP00000406485:K73R;ENSP00000432651:K55R;ENSP00000382108:K55R	ENSP00000382108:K55R	K	+	2	0	SMTNL1	57066855	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.129000	0.15830	0.007000	0.14760	0.533000	0.62120	AAG		0.567	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		3	35	0	0	0	1	0	3	35					G	57310279	A	G	57310279	3	3	213	1	0	0	0	0	1	0	0	0	14815	72	3	3	224	3	SMTNL1	11	57310279	Missense_Mutation	SNP	A	TCGA-EL-A3ZR-01A-11D-A23M-08	56039066	57310279	77696237	9	3826											
OR5B17	219965	broad.mit.edu	37	11	58126180	58126180	+	Silent	SNP	G	G	A	rs146597451		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:58126180G>A	ENST00000357377.3	-	1	362	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACACTGCTGCGTAGCGGTCAT	0.473																																						uc010rke.2																			0		p.R120C(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(361-363)taC>taT		Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.		G		1,4401	2.1+/-5.4	0,1,2200	124	111	115		363	-7.2	0.0	11	dbSNP_134	115	0,8590		0,0,4295	no	coding-synonymous	OR5B17	NM_001005489.1		0,1,6495	AA,AG,GG		0.0,0.0227,0.0077		121/315	58126180	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126180G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.363C>T	11.37:g.58126180G>A			Somatic					p.Y121Y	NM_001005489	NP_001005489	WXS	Illumina GAIIx	Phase_I	Q8NGF7	OR5BH_HUMAN			0	363	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	121					Q6IEX1	Silent	SNP	ENST00000357377.3	37	c.363C>T	CCDS31548.1																																																																																				0.473	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		19	74	0	0	0	1	0	19	74					A	58126180	G	A	58126180	2	1	213	1	0	0	0	0	0	0	0	1	11149	1140	40	1		1	OR5B17	11	58126180	Silent	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08	815901	58126180	76880336	10	3827											
PLCB3	5331	broad.mit.edu	37	11	64028911	64028911	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr11:64028911T>G	ENST00000540288.1	+	15	1874	c.1771T>G	c.(1771-1773)Tcc>Gcc	p.S591A	PLCB3_ENST00000279230.6_Missense_Mutation_p.S591A|PLCB3_ENST00000325234.5_Missense_Mutation_p.S524A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	591	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)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGAGGAGATGTCCACGCTTGT	0.607																																						uc009ypi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1771-1773)Tcc>Gcc		Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.							164	127	140					11																	64028911		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64028911T>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1771T>G	11.37:g.64028911T>G	ENSP00000443631:p.Ser591Ala		Somatic				PLCB3_uc009ypg.2_Missense_Mutation_p.S591A|PLCB3_uc009yph.2_Missense_Mutation_p.S524A	p.S591A	NM_000932	NP_000923	WXS	Illumina GAIIx	Phase_I	Q01970	PLCB3_HUMAN			14	1898	+			591			PI-PLC Y-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1771T>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417766	0.83449	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.70045	-0.45;-0.45;-0.45	4.75	4.75	0.60458	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.257208	0.39687	N	0.001281	T	0.81945	0.4930	M	0.83312	2.635	0.54753	D	0.999984	D;D	0.71674	0.994;0.998	D;D	0.91635	0.994;0.999	D	0.84226	0.0464	10	0.56958	D	0.05	.	13.2131	0.59836	0.0:0.0:0.0:1.0	.	524;591	G5E960;Q01970	.;PLCB3_HUMAN	A	591;591;524	ENSP00000279230:S591A;ENSP00000443631:S591A;ENSP00000324660:S524A	ENSP00000279230:S591A	S	+	1	0	PLCB3	63785487	1.000000	0.71417	0.989000	0.46669	0.835000	0.47333	7.914000	0.87478	1.778000	0.52293	0.254000	0.18369	TCC		0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			11	120	0	0	0	1	0	11	120					G	64028911	T	G	64028911	3	3	213	1	0	0	0	0	1	0	0	0	12029	1667	58	5	1829	5	PLCB3	11	64028911	Missense_Mutation	SNP	T	TCGA-EL-A3ZR-01A-11D-A23M-08	5902731	64028911	70977605	11	3828											
RFXAP	5994	broad.mit.edu	37	13	37399626	37399626	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:37399626C>A	ENST00000255476.2	+	2	796	c.662C>A	c.(661-663)cCt>cAt	p.P221H	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	221	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GGGGATCGTCCTGCAAGACCT	0.308																																						uc001uvu.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(661-663)cCt>cAt		Homo sapiens regulatory factor X-associated protein (RFXAP), mRNA.							110	111	111					13																	37399626		2203	4300	6503	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399626C>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.662C>A	13.37:g.37399626C>A	ENSP00000255476:p.Pro221His		Somatic					p.P221H	NM_000538	NP_000529	WXS	Illumina GAIIx	Phase_I	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	1	818	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	221			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.662C>A	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691762	0.88735	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78861	-0.2037	9	0.72032	D	0.01	-7.4864	18.649	0.91423	0.0:1.0:0.0:0.0	.	221	O00287	RFXAP_HUMAN	H	221	.	ENSP00000255476:P221H	P	+	2	0	RFXAP	36297626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.725000	0.74752	2.752000	0.94435	0.655000	0.94253	CCT		0.308	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		18	30	0	0	0	1	0	18	30					A	37399626	C	A	37399626	3	1	213	1	0	0	0	0	1	0	0	0	13270	681	24	4	668	4	RFXAP	13	37399626	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		37399626	77770252	12	3829											
KBTBD7	84078	broad.mit.edu	37	13	41768119	41768120	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr13:41768119_41768120GC>AG	ENST00000379483.3	-	1	582_583	c.274_275GC>CT	c.(274-276)GCg>CTg	p.A92L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTAGGGACACGCAGCTGCTAGC	0.619																																						uc001uxw.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(274-276)gcg>CTg		Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.																																				SO:0001583	missense	84078						protein binding	g.chr13:41768119_41768120GC>AG	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.274_275delinsAG	13.37:g.41768119_41768120delinsAG	ENSP00000368797:p.Ala92Leu		Somatic				AK056182_uc001uxv.1_Intron	p.A92L	NM_032138	NP_115514	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	0	583_584	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	92			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	DNP	ENST00000379483.3	37	c.274_275GC>CT	CCDS9377.1																																																																																				0.619	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		8	46	0	0	0	1	0	8	46					AG	41768120	GC	AG	41768119	3	1	213	1	0	0	0	0	1	0	0	0	7998	1087	38	1	1783	1	KBTBD7	13	41768119	Missense_Mutation	DNP	GC	TCGA-EL-A3ZR-01A-11D-A23M-08	4368493	41768119	73401759	13	3830											
LRP10	26020	broad.mit.edu	37	14	23345001	23345001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr14:23345001C>T	ENST00000359591.4	+	5	1535	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	LRP10_ENST00000546834.1_Nonsense_Mutation_p.Q282*	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	282	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACTGTCTGGCCAGGCTGTTGT	0.582																																						uc001whd.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(844-846)Cag>Tag		Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.							91	75	80					14																	23345001		2203	4300	6503	SO:0001587	stop_gained	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345001C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.844C>T	14.37:g.23345001C>T	ENSP00000352601:p.Gln282*		Somatic				LRP10_uc001whe.3_Nonsense_Mutation_p.Q158*	p.Q282*	NM_014045	NP_054764	WXS	Illumina GAIIx	Phase_I	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	4	1397	+	all_cancers(95;4.69e-05)		282			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Nonsense_Mutation	SNP	ENST00000359591.4	37	c.844C>T	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392060|3.392060	0.62066|0.62066	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|.	.|.	.|.	5.97|5.97	3.92|3.92	0.45320|0.45320	.|.	.|0.282045	.|0.36932	.|N	.|0.002329	T|.	0.66327|.	0.2778|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.74137|.	-0.3762|.	3|.	.|0.42905	.|T	.|0.14	-10.7722|-10.7722	14.5957|14.5957	0.68403|0.68403	0.3457:0.6543:0.0:0.0|0.3457:0.6543:0.0:0.0	.|.	.|.	.|.	.|.	L|X	183|282	.|.	.|ENSP00000352601:Q282X	P|Q	+|+	2|1	0|0	LRP10|LRP10	22414841|22414841	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	2.506000|2.506000	0.45433|0.45433	1.472000|1.472000	0.48140|0.48140	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			39	83	0	0	0	1	0	39	83					T	23345001	C	T	23345001	4	4	213	1	0	0	0	0	0	1	0	0	8952	595	21	2	862	2	LRP10	14	23345001	Nonsense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		23345001	84004539	14	3831											
NLRP4	147945	broad.mit.edu	37	19	56373475	56373475	+	Silent	SNP	G	G	A			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr19:56373475G>A	ENST00000301295.6	+	5	2558	c.2136G>A	c.(2134-2136)agG>agA	p.R712R	NLRP4_ENST00000346986.5_Silent_p.R712R|NLRP4_ENST00000587891.1_Silent_p.R637R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	712					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)		ATGACATCAGGTCCCTCTGTG	0.473																																						uc002qmd.4																			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.(2134-2136)agG>agA		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							141	124	130					19																	56373475		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56373475G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2136G>A	19.37:g.56373475G>A			Somatic				NLRP4_uc002qmf.3_Silent_p.R637R|NLRP4_uc010etf.3_Silent_p.R543R	p.R712R	NM_134444	NP_604393	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2558	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	712					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2136G>A	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	89	0	0	0	1	0	5	89					A	56373475	G	A	56373475	2	1	213	1	0	0	0	0	0	0	0	1	10479	1252	44	2		2	NLRP4	19	56373475	Silent	SNP	G	TCGA-EL-A3ZR-01A-11D-A23M-08		56373475	2755508	15	3832											
RTDR1	27156	broad.mit.edu	37	22	23401754	23401754	+	Silent	SNP	C	C	T	rs533095411		TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chr22:23401754C>T	ENST00000216036.4	-	7	1129	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		311										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)		TGGGCACGTGCGTCTGCAGGG	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		17703	0		0	False		,,,				2504	0					uc002zwt.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(931-933)acG>acA		Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.							97	94	95					22																	23401754		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23401754C>T																												ENST00000216036.4:c.933G>A	22.37:g.23401754C>T			Somatic					p.T311T	NM_014433	NP_055248	WXS	Illumina GAIIx	Phase_I	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	6	1091	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		311						Silent	SNP	ENST00000216036.4	37	c.933G>A	CCDS13803.1																																																																																				0.637	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			40	140	0	0	0	1	0	40	140					T	23401754	C	T	23401754	2	4	213	1	0	0	0	0	0	0	0	1	13719	755	27	1		1	RTDR1	22	23401754	Silent	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		23401754	27902812	16	3833											
MAP3K15	389840	broad.mit.edu	37	X	19389610	19389610	+	Silent	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:19389610C>T	ENST00000338883.4	-	23	3146	c.3147G>A	c.(3145-3147)aaG>aaA	p.K1049K	MAP3K15_ENST00000469203.2_Silent_p.K881K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Silent_p.K484K	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1049							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAATGATTTGCTTGATGTGTC	0.478																																						uc022btq.1																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3145-3147)aaG>aaA		Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.							121	95	104					X																	19389610		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389610C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3147G>A	X.37:g.19389610C>T			Somatic				MAP3K15_uc004czj.2_Silent_p.K484K|MAP3K15_uc004czk.2_Silent_p.K524K|MAP3K15_uc004czi.2_5'UTR	p.K1049K	NM_001001671	NP_001001671	WXS	Illumina GAIIx	Phase_I	Q6ZN16	M3K15_HUMAN			22	3147	-	Hepatocellular(33;0.183)		1049					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.3147G>A																																																																																					0.478	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		42	59	0	0	0	1	0	42	59					T	19389610	C	T	19389610	2	4	213	1	0	0	0	0	0	0	0	1	9249	796	28	2		2	MAP3K15	23	19389610	Silent	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08		19389610	135880950	17	3834											
PCDH11X	27328	broad.mit.edu	37	X	91090988	91090988	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZR-01A-11D-A23M-08	TCGA-EL-A3ZR-11A-11D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef14112d-0d01-4b95-9d74-61973fcb5a89	99efb2b0-1cf3-455d-83ba-f2a81b958a33	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(484-486)gCg>gTg		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							36	37	37					X																	91090988		2200	4298	6498	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090988C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.485C>T	X.37:g.91090988C>T	ENSP00000362186:p.Ala162Val		Somatic				PCDH11X_uc004efl.2_Missense_Mutation_p.A162V|PCDH11X_uc010nmv.2_Missense_Mutation_p.A162V|PCDH11X_uc004efm.2_Missense_Mutation_p.A162V|PCDH11X_uc004efn.2_Missense_Mutation_p.A162V|PCDH11X_uc004efo.2_Missense_Mutation_p.A162V|PCDH11X_uc004efh.2_Missense_Mutation_p.A162V|PCDH11X_uc004efj.1_Missense_Mutation_p.A162V	p.A162V	NM_032968	NP_116750	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			0	1330	+			162			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.485C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	52	0	0	0	1	0	5	52					T	91090988	C	T	91090988	3	4	213	1	0	0	0	0	1	0	0	0	11508	768	27	1	487	1	PCDH11X	23	91090988	Missense_Mutation	SNP	C	TCGA-EL-A3ZR-01A-11D-A23M-08	71701378	91090988	64179572	18	3835											
WNT3A	89780	broad.mit.edu	37	1	228210473	228210473	+	Silent	SNP	C	C	T			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr1:228210473C>T	ENST00000284523.1	+	2	255	c.177C>T	c.(175-177)taC>taT	p.Y59Y	WNT3A_ENST00000366753.2_Silent_p.Y59Y	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	59					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.Y59Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCAGGAACTACGTGGAGATCA	0.652																																						uc001hrp.2																			1	Substitution - coding silent(1)	p.Y59Y(2)	ovary(1)	kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(175-177)taC>taT		Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.							54	53	54					1																	228210473		2203	4300	6503	SO:0001819	synonymous_variant	89780				Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210473C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"Wingless-type MMTV integration sites", "Endogenous ligands"	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.177C>T	1.37:g.228210473C>T			Somatic				WNT3A_uc001hrq.2_Silent_p.Y59Y	p.Y59Y	NM_033131	NP_149122	WXS	Illumina GAIIx	Phase_I	P56704	WNT3A_HUMAN			1	284	+		Prostate(94;0.0405)	59					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.177C>T	CCDS1564.1																																																																																				0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		14	28	0	0	0	1	0	14	28					T	228210473	C	T	228210473	2	4	214	1	0	0	0	0	0	0	0	1	17386	547	19	1		1	WNT3A	1	228210473	Silent	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08		228210473	21040148	1	3836											
PTPN4	5775	broad.mit.edu	37	2	120677714	120677715	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr2:120677714_120677715GC>CA	ENST00000263708.2	+	12	1669_1670	c.898_899GC>CA	c.(898-900)GCa>CAa	p.A300Q	snoU13_ENST00000459555.1_RNA	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	300	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTGTGGAAAGCATGTGTAGAA	0.337																																						uc002tmf.1																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(898-900)gca>CAa		Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	Alendronate(DB00630)																																			SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120677714_120677715GC>CA		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	Exception_encountered	2.37:g.120677714_120677715delinsCA	ENSP00000263708:p.Ala300Gln		Somatic				PTPN4_uc010flj.1_Missense_Mutation_p.A13Q	p.A300Q	NM_002830	NP_002821	WXS	Illumina GAIIx	Phase_I	P29074	PTN4_HUMAN			11	1669_1670	+			300			FERM.		B2RBV8|Q9UDA7	Missense_Mutation	DNP	ENST00000263708.2	37	c.898_899GC>CA	CCDS2129.1																																																																																				0.337	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			64	77	0	0	0	1	0	64	77					CA	120677715	GC	CA	120677714	3	2	214	1	0	0	0	0	1	0	0	0	12790	971	34	4	940	4	PTPN4	2	120677714	Missense_Mutation	DNP	GC	TCGA-EL-A3ZT-01A-12D-A23M-08		120677714	122521659	2	3837											
TRIO	7204	broad.mit.edu	37	5	14492733	14492733	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr5:14492733G>A	ENST00000344204.4	+	49	7714	c.7690G>A	c.(7690-7692)Gca>Aca	p.A2564T	TRIO_ENST00000344135.5_Missense_Mutation_p.A63T|TRIO_ENST00000537187.1_Missense_Mutation_p.A2388T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2564	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					CGATTACACGGCAGTGAAGGA	0.517																																						uc003jff.3																			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.(7690-7692)Gca>Aca		Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.							111	88	96					5																	14492733		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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	g.chr5:14492733G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7690G>A	5.37:g.14492733G>A	ENSP00000339299:p.Ala2564Thr		Somatic				TRIO_uc003jfg.3_Non-coding_Transcript	p.A2564T	NM_007118	NP_009049	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			48	7696	+	Lung NSC(4;0.000742)		2564			SH3 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7690G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339224	0.95783	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.52	5.52	0.82312	Src homology-3 domain (2);	0.054930	0.64402	D	0.000001	T	0.69187	0.3083	L	0.34521	1.04	0.42253	D	0.991982	D	0.89917	1.0	D	0.97110	1.0	T	0.72033	-0.4412	10	0.72032	D	0.01	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	2564	O75962	TRIO_HUMAN	T	2564;2388;2251;63	ENSP00000339299:A2564T;ENSP00000446348:A2388T;ENSP00000426342:A2251T;ENSP00000339291:A63T	ENSP00000339291:A63T	A	+	1	0	TRIO	14545733	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.414000	0.97362	2.595000	0.87683	0.655000	0.94253	GCA		0.517	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		13	31	0	0	0	1	0	13	31					A	14492733	G	A	14492733	3	1	214	1	0	0	0	0	1	0	0	0	16549	1203	42	2	7884	2	TRIO	5	14492733	Missense_Mutation	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08		14492733	166422527	3	3838											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		49	76	0	0	0	1	0	49	76					T	140453136	A	T	140453136	3	4	214	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A3ZT-01A-12D-A23M-08		140453136	18685527	4	3839											
UTP20	27340	broad.mit.edu	37	12	101777048	101777048	+	Missense_Mutation	SNP	T	T	G	rs559137147		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr12:101777048T>G	ENST00000261637.4	+	59	8060	c.7886T>G	c.(7885-7887)aTt>aGt	p.I2629S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2629					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTGTCCCGGATTGCAAAACTG	0.493																																						uc001tia.1																			0		p.R2628W(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(7885-7887)aTt>aGt		Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.							57	63	61					12																	101777048		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101777048T>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7886T>G	12.37:g.101777048T>G	ENSP00000261637:p.Ile2629Ser		Somatic					p.I2629S	NM_014503	NP_055318	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			58	8042	+			2629					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7886T>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257892	0.59321	.	.	ENSG00000120800	ENST00000261637	T	0.04551	3.6	5.73	5.73	0.89815	.	0.330121	0.39544	N	0.001326	T	0.07413	0.0187	L	0.48642	1.525	0.39109	D	0.961433	B	0.16603	0.018	B	0.18263	0.021	T	0.14476	-1.0471	10	0.48119	T	0.1	-2.0574	16.0371	0.80638	0.0:0.0:0.0:1.0	.	2629	O75691	UTP20_HUMAN	S	2629	ENSP00000261637:I2629S	ENSP00000261637:I2629S	I	+	2	0	UTP20	100301179	1.000000	0.71417	0.153000	0.22517	0.812000	0.45895	4.739000	0.62080	2.187000	0.69744	0.523000	0.50628	ATT		0.493	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		5	63	0	0	0	1	0	5	63					G	101777048	T	G	101777048	3	3	214	1	0	0	0	0	1	0	0	0	17096	1493	52	5	8120	5	UTP20	12	101777048	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08		101777048	32074847	5	3840											
MED13L	23389	broad.mit.edu	37	12	116413488	116413488	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr12:116413488T>C	ENST00000281928.3	-	24	5626	c.5420A>G	c.(5419-5421)gAc>gGc	p.D1807G		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1807						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTCTGCTTGTCTTTGATTGG	0.488																																						uc001tvw.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5419-5421)gAc>gGc		Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.							81	86	84					12																	116413488		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413488T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5420A>G	12.37:g.116413488T>C	ENSP00000281928:p.Asp1807Gly		Somatic					p.D1807G	NM_015335	NP_056150	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	23	5475	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1807					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5420A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513219	0.85389	.	.	ENSG00000123066	ENST00000281928	T	0.75367	-0.93	5.87	5.87	0.94306	.	0.143889	0.64402	D	0.000005	T	0.75503	0.3858	L	0.49640	1.575	0.54753	D	0.999982	P	0.43231	0.801	P	0.46510	0.519	T	0.74722	-0.3569	10	0.38643	T	0.18	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1807	Q71F56	MD13L_HUMAN	G	1807	ENSP00000281928:D1807G	ENSP00000281928:D1807G	D	-	2	0	MED13L	114897871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.872000	0.56085	2.371000	0.80710	0.533000	0.62120	GAC		0.488	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			6	61	0	0	0	1	0	6	61					C	116413488	T	C	116413488	3	2	214	1	0	0	0	0	1	0	0	0	9431	1667	58	3	1244	3	MED13L	12	116413488	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08	14636440	116413488	17438407	6	3841											
SOLH	6650	broad.mit.edu	37	16	601310	601310	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr16:601310T>C	ENST00000219611.2	+	8	2438	c.2075T>C	c.(2074-2076)aTg>aCg	p.M692T	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	692	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGGTTCCTCATGGGTGCCTCC	0.682																																						uc002chi.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2074-2076)aTg>aCg		Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.							42	51	48					16																	601310		2198	4299	6497	SO:0001583	missense	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:601310T>C	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2075T>C	16.37:g.601310T>C	ENSP00000219611:p.Met692Thr		Somatic				SOLH_uc002chj.3_5'Flank	p.M692T	NM_005632	NP_005623	WXS	Illumina GAIIx	Phase_I	O75808	CAN15_HUMAN			7	2438	+		Hepatocellular(780;0.00335)	692			Calpain catalytic.		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2075T>C	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	t	15.26	2.781902	0.49891	.	.	ENSG00000103326	ENST00000219611	T	0.45276	0.9	5.55	4.45	0.53987	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.86268	2.805	0.58432	D	0.999999	D	0.65815	0.995	D	0.77557	0.99	T	0.68542	-0.5381	10	0.72032	D	0.01	.	10.2506	0.43367	0.0:0.0789:0.0:0.9211	.	692	O75808	CAN15_HUMAN	T	692	ENSP00000219611:M692T	ENSP00000219611:M692T	M	+	2	0	SOLH	541311	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	7.999000	0.88496	0.933000	0.37291	0.454000	0.30748	ATG		0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		14	24	0	0	0	1	0	14	24					C	601310	T	C	601310	3	2	214	1	0	0	0	0	1	0	0	0	14925	1464	51	3	2093	3	SOLH	16	601310	Missense_Mutation	SNP	T	TCGA-EL-A3ZT-01A-12D-A23M-08		601310	89753443	7	3842											
SLC12A3	6559	broad.mit.edu	37	16	56906569	56906569	+	Splice_Site	SNP	G	G	A	rs149172580		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr16:56906569G>A	ENST00000563236.1	+	8	991	c.966G>A	c.(964-966)gcG>gcA	p.A322A	SLC12A3_ENST00000566786.1_Splice_Site_p.A321A|SLC12A3_ENST00000438926.2_Splice_Site_p.A322A|SLC12A3_ENST00000262502.5_Splice_Site_p.A321A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	322					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTTTTCCAGCGGACATTTTTG	0.592													G|||	1	0.000199681	0	0.0014	5008	,	,		21687	0		0	False		,,,				2504	0					uc002ekd.4																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.e8-1		Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	G	,,	7,4389	12.9+/-30.5	0,7,2191	81	71	74		966,963,966	2.6	1.0	16	dbSNP_134	74	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,7,6491	AA,AG,GG		0.0,0.1592,0.0539	,,	322/1031,321/1030,322/1022	56906569	7,12989	2198	4300	6498	SO:0001630	splice_region_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906569G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.965-1G>A	16.37:g.56906569G>A			Somatic				SLC12A3_uc010ccm.3_Splice_Site_p.A322_splice|SLC12A3_uc010ccn.3_Splice_Site_p.A321_splice	p.A322_splice	NM_000339	NP_000330	WXS	Illumina GAIIx	Phase_I	P55017	S12A3_HUMAN			8	994	+			322					A8MSJ2|C9JNN9	Splice_Site	SNP	ENST00000563236.1	37	c.965_splice	CCDS58464.1																																																																																				0.592	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		Silent	18	35	0	0	0	1	0	18	35					A	56906569	G	A	56906569	5	1	214	1	0	0	0	0	0	0	1	0	14384	1130	39	1	996	1	SLC12A3	16	56906569	Splice_Site	SNP	G	TCGA-EL-A3ZT-01A-12D-A23M-08	56305259	56906569	33448184	8	3843											
ZC3H4	23211	broad.mit.edu	37	19	47572495	47572495	+	Missense_Mutation	SNP	C	C	A	rs372785889		TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chr19:47572495C>A	ENST00000253048.5	-	14	2289	c.2252G>T	c.(2251-2253)cGg>cTg	p.R751L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	751							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677																																						uc002pga.4																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2251-2253)cGg>cTg		Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.							25	30	29					19																	47572495		1909	4105	6014	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47572495C>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2252G>T	19.37:g.47572495C>A	ENSP00000253048:p.Arg751Leu		Somatic				ZC3H4_uc002pgb.1_Intron	p.R751L	NM_015168	NP_055983	WXS	Illumina GAIIx	Phase_I	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	2290	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	751					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2252G>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640046	0.29157	.	.	ENSG00000130749	ENST00000253048	T	0.18174	2.23	5.17	4.11	0.48088	.	1.018400	0.07859	N	0.965990	T	0.14485	0.0350	L	0.36672	1.1	0.28761	N	0.900886	B	0.10296	0.003	B	0.10450	0.005	T	0.31943	-0.9925	10	0.11485	T	0.65	.	10.2217	0.43201	0.1528:0.6994:0.1478:0.0	.	751	Q9UPT8	ZC3H4_HUMAN	L	751	ENSP00000253048:R751L	ENSP00000253048:R751L	R	-	2	0	ZC3H4	52264335	0.994000	0.37717	1.000000	0.80357	0.936000	0.57629	1.015000	0.29963	1.361000	0.45981	0.591000	0.81541	CGG		0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			11	17	0	0	0	1	0	11	17					A	47572495	C	A	47572495	3	1	214	1	0	0	0	0	1	0	0	0	17567	652	23	4	1667	4	ZC3H4	19	47572495	Missense_Mutation	SNP	C	TCGA-EL-A3ZT-01A-12D-A23M-08		47572495	11556488	9	3844											
TFE3	7030	broad.mit.edu	37	X	48896807	48896807	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3ZT-01A-12D-A23M-08	TCGA-EL-A3ZT-11A-13D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61a33169-6990-498f-b8fa-f978c4c6de35	fc947e09-bbcf-4555-84c3-6e3fa8b5256b	g.chrX:48896807A>C	ENST00000315869.7	-	3	618	c.359T>G	c.(358-360)cTa>cGa	p.L120R	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	120					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCCCGCATTAGCTGCTGCCG	0.657			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	uc004dmb.3				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(358-360)cTa>cGa		Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.							20	18	18					X																	48896807		2201	4298	6499	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48896807A>C	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.359T>G	X.37:g.48896807A>C	ENSP00000314129:p.Leu120Arg		Somatic				TFE3_uc004dmc.3_Missense_Mutation_p.L15R|TFE3_uc004dme.1_Non-coding_Transcript	p.L120R	NM_006521	NP_006512	WXS	Illumina GAIIx	Phase_I	P19532	TFE3_HUMAN			2	597	-			120					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.359T>G	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311874	0.60414	.	.	ENSG00000068323	ENST00000315869	T	0.58797	0.31	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000006	T	0.73353	0.3576	M	0.71206	2.165	0.54753	D	0.999989	D	0.71674	0.998	D	0.83275	0.996	T	0.76498	-0.2937	10	0.87932	D	0	-8.8663	11.6256	0.51142	1.0:0.0:0.0:0.0	.	120	P19532	TFE3_HUMAN	R	120	ENSP00000314129:L120R	ENSP00000314129:L120R	L	-	2	0	TFE3	48783751	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	8.566000	0.90734	1.728000	0.51552	0.417000	0.27973	CTA		0.657	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		8	3	0	0	0	1	0	8	3					C	48896807	A	C	48896807	3	2	214	1	0	0	0	0	1	0	0	0	15797	420	15	5	1400	5	TFE3	23	48896807	Missense_Mutation	SNP	A	TCGA-EL-A3ZT-01A-12D-A23M-08		48896807	106373753	10	3845											
RERE	473	broad.mit.edu	37	1	8716118	8716118	+	Missense_Mutation	SNP	G	G	A	rs139888880	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:8716118G>A	ENST00000337907.3	-	3	873	c.239C>T	c.(238-240)cCg>cTg	p.P80L	RERE_ENST00000400908.2_Missense_Mutation_p.P80L|RERE_ENST00000400907.2_Missense_Mutation_p.P80L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	80					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)	p.P80Q(1)		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)		CTTTTTTTTCGGTGGTTTCTT	0.443																																						uc001ape.3																			1	Substitution - Missense(1)	p.P80Q(2)	lung(1)	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.(238-240)cCg>cTg		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.		G	LEU/PRO,LEU/PRO	6,4400	11.4+/-27.6	0,6,2197	316	292	300		239,239	5.4	1.0	1	dbSNP_134	300	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RERE	NM_001042681.1,NM_012102.3	98,98	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging,probably-damaging	80/1567,80/1567	8716118	7,12999	2203	4300	6503	SO:0001583	missense	473				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716118G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.239C>T	1.37:g.8716118G>A	ENSP00000338629:p.Pro80Leu		Somatic				RERE_uc001apf.3_Missense_Mutation_p.P80L|RERE_uc001aph.1_Missense_Mutation_p.P80L	p.P80L	NM_012102	NP_036234	WXS	Illumina GAIIx	Phase_I	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)	2	1049	-	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)	80					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.239C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201467	0.79015	0.001362	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.46451	0.87;0.87	5.45	5.45	0.79879	.	.	.	.	.	T	0.51449	0.1675	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45425	-0.9262	9	0.29301	T	0.29	-17.9739	18.2804	0.90096	0.0:0.0:1.0:0.0	.	80	Q9P2R6	RERE_HUMAN	L	80	ENSP00000338629:P80L;ENSP00000383700:P80L	ENSP00000338629:P80L	P	-	2	0	RERE	8638705	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.452000	0.80683	2.553000	0.86117	0.557000	0.71058	CCG		0.443	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	255	0	0	0	1	0	17	255					A	8716118	G	A	8716118	3	1	215	1	0	0	0	0	1	0	0	0	13231	1116	39	1	4549	1	RERE	1	8716118	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		8716118	240534503	1	3846											
PTCHD2	57540	broad.mit.edu	37	1	11562110	11562110	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:11562110A>G	ENST00000294484.6	+	2	1199	c.1061A>G	c.(1060-1062)tAt>tGt	p.Y354C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y354C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	354					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AAGATCTACTATGACGGCATG	0.607																																						uc001ash.4																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1060-1062)tAt>tGt		Homo sapiens patched domain containing 2 (PTCHD2), mRNA.							32	35	34					1																	11562110		1904	4113	6017	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562110A>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1061A>G	1.37:g.11562110A>G	ENSP00000294484:p.Tyr354Cys		Somatic				PTCHD2_uc001asi.1_Missense_Mutation_p.Y354C	p.Y354C	NM_020780	NP_065831	WXS	Illumina GAIIx	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	1	1199	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	354					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1061A>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280037	0.59758	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.28666	1.6;1.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	N	0.24115	0.695	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.39840	-0.9594	10	0.59425	D	0.04	-14.6375	14.4989	0.67707	1.0:0.0:0.0:0.0	.	354	Q9P2K9	PTHD2_HUMAN	C	354	ENSP00000294484:Y354C;ENSP00000374226:Y354C	ENSP00000294484:Y354C	Y	+	2	0	PTCHD2	11484697	1.000000	0.71417	0.902000	0.35471	0.765000	0.43378	5.598000	0.67585	2.020000	0.59435	0.533000	0.62120	TAT		0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		18	21	0	0	0	1	0	18	21					G	11562110	A	G	11562110	3	3	215	1	0	0	0	0	1	0	0	0	12733	449	16	3	1063	3	PTCHD2	1	11562110	Missense_Mutation	SNP	A	TCGA-EL-A4JV-01A-11D-A257-08	2845992	11562110	237688511	2	3847											
TDRD5	163589	broad.mit.edu	37	1	179609053	179609053	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:179609053G>A	ENST00000367614.1	+	10	1959	c.1600G>A	c.(1600-1602)Gta>Ata	p.V534I	TDRD5_ENST00000294848.8_Missense_Mutation_p.V534I|TDRD5_ENST00000444136.1_Missense_Mutation_p.V534I	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	534	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTCTGTTGTGTAAGGATTTC	0.423																																						uc010pnp.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1600-1602)Gta>Ata		Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.							214	204	207					1																	179609053		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609053G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1600G>A	1.37:g.179609053G>A	ENSP00000356586:p.Val534Ile		Somatic				TDRD5_uc021pfm.1_Missense_Mutation_p.V534I|TDRD5_uc001gnf.2_Missense_Mutation_p.V534I|TDRD5_uc021pfn.1_Missense_Mutation_p.V534I|TDRD5_uc001gnh.2_Missense_Mutation_p.V89I	p.V534I	NM_001199085	NP_001186014	WXS	Illumina GAIIx	Phase_I	Q8NAT2	TDRD5_HUMAN			9	2118	+			534			Tudor.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1600G>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175937	0.57692	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.10860	2.83;2.83;2.83	5.33	4.42	0.53409	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.067875	0.64402	D	0.000019	T	0.25382	0.0617	M	0.62723	1.935	0.39209	D	0.96328	D;D	0.67145	0.996;0.996	D;D	0.68353	0.947;0.957	T	0.02121	-1.1210	10	0.51188	T	0.08	-2.5321	8.5477	0.33433	0.0821:0.1535:0.7644:0.0	.	534;534	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	I	534	ENSP00000356586:V534I;ENSP00000294848:V534I;ENSP00000406052:V534I	ENSP00000294848:V534I	V	+	1	0	TDRD5	177875676	1.000000	0.71417	0.976000	0.42696	0.634000	0.38068	5.434000	0.66526	1.249000	0.43950	-0.136000	0.14681	GTA		0.423	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		70	82	0	0	0	1	0	70	82					A	179609053	G	A	179609053	3	1	215	1	0	0	0	0	1	0	0	0	15730	1377	48	2	1634	2	TDRD5	1	179609053	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08	168046943	179609053	69641568	3	3848											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		29	48	0	0	0	1	0	29	48					C	533874	T	C	533874	3	2	215	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EL-A4JV-01A-11D-A257-08		533874	134472642	4	3849											
AP2A2	161	broad.mit.edu	37	11	981217	981217	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:981217C>T	ENST00000448903.2	+	6	764	c.623C>T	c.(622-624)aCa>aTa	p.T208I	AP2A2_ENST00000332231.5_Missense_Mutation_p.T208I|AP2A2_ENST00000534328.1_Missense_Mutation_p.T208I	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	208					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)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACTGCAGCCACAAGTCTGATC	0.453																																						uc001lst.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(622-624)aCa>aTa		Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.							69	68	69					11																	981217		1972	4150	6122	SO:0001583	missense	161				axon guidance|endocytosis|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|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:981217C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.623C>T	11.37:g.981217C>T	ENSP00000413234:p.Thr208Ile		Somatic				AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.T208I|AP2A2_uc001lsu.1_Missense_Mutation_p.T81I	p.T208I	NM_001242837	NP_001229766	WXS	Illumina GAIIx	Phase_I	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	5	836	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	208					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.623C>T	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	2.472	-0.321650	0.05386	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000329626	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	3.09	2.18	0.27775	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.196210	0.43919	D	0.000511	T	0.18173	0.0436	L	0.31752	0.955	0.19575	N	0.999969	B;B;B	0.13145	0.004;0.007;0.002	B;B;B	0.17098	0.017;0.015;0.012	T	0.20907	-1.0261	10	0.46703	T	0.11	.	10.9028	0.47062	0.0:0.9045:0.0:0.0954	.	101;208;208	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	I	48;208;208;208;208;208;81	ENSP00000437228:T48I;ENSP00000436059:T208I;ENSP00000413234:T208I;ENSP00000327694:T208I	ENSP00000328024:T81I	T	+	2	0	AP2A2	971217	0.474000	0.25886	0.002000	0.10522	0.055000	0.15305	1.728000	0.38105	0.893000	0.36288	-0.229000	0.12294	ACA		0.453	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		4	8	0	0	0	1	0	4	8					T	981217	C	T	981217	3	4	215	1	0	0	0	0	1	0	0	0	740	478	17	2	645	2	AP2A2	11	981217	Missense_Mutation	SNP	C	TCGA-EL-A4JV-01A-11D-A257-08	447343	981217	134025299	5	3850											
ZC3H14	79882	broad.mit.edu	37	14	89061103	89061103	+	Intron	SNP	T	T	G	rs565303355		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr14:89061103T>G	ENST00000251038.5	+	10	1504				ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000555900.1_Silent_p.P11P|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000406216.3_Silent_p.P11P|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Silent_p.P11P	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CATCACCACCTCTACCAATTT	0.378																																						uc001xxb.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(31-33)ccT>ccG		Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 4, mRNA.							88	87	87					14																	89061103		2203	4300	6503	SO:0001627	intron_variant	79882					cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding	g.chr14:89061103T>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1280-1975T>G	14.37:g.89061103T>G			Somatic				ZC3H14_uc001xww.3_Intron|ZC3H14_uc010twd.2_Intron|ZC3H14_uc010twe.2_Intron|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Intron|ZC3H14_uc001xxc.3_Silent_p.P9P	p.P11P	NM_207662	NP_997545	WXS	Illumina GAIIx	Phase_I	Q6PJT7	ZC3HE_HUMAN			0	374	+			666					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.33T>G	CCDS32133.1																																																																																				0.378	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		5	63	0	0	0	1	0	5	63					G	89061103	T	G	89061103	1	3	215	0	1	0	0	0	0	0	0	0	17563	1538	54	5		5	ZC3H14	14	89061103	Intron	SNP	T	TCGA-EL-A4JV-01A-11D-A257-08		89061103	18288437	6	3851											
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4156-4158)Cgc>Tgc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							139	134	136					17																	10216500		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10216500G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4156C>T	17.37:g.10216500G>A	ENSP00000404570:p.Arg1386Cys		Somatic					p.R1386C	NM_003802	NP_003793	WXS	Illumina GAIIx	Phase_I	Q9UKX3	MYH13_HUMAN			29	4246	-			1386					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4156C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583801	0.46006	.	.	ENSG00000006788	ENST00000252172	T	0.81078	-1.45	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.90363	0.6984	H	0.95043	3.615	0.46317	D	0.998982	B	0.30361	0.277	P	0.47376	0.545	D	0.91917	0.5544	9	0.87932	D	0	.	12.2372	0.54522	0.0868:0.0:0.9132:0.0	.	1386	Q9UKX3	MYH13_HUMAN	C	1386	ENSP00000252172:R1386C	ENSP00000252172:R1386C	R	-	1	0	MYH13	10157225	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.132000	0.31418	2.207000	0.71202	0.462000	0.41574	CGC		0.617	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		48	78	0	0	0	1	0	48	78					A	10216500	G	A	10216500	3	1	215	1	0	0	0	0	1	0	0	0	10032	1087	38	1	1708	1	MYH13	17	10216500	Missense_Mutation	SNP	G	TCGA-EL-A4JV-01A-11D-A257-08		10216500	70978710	7	3852											
BAT2L2	23215	broad.mit.edu	37	1	171509227	171509227	+	Silent	SNP	A	A	G			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr1:171509227A>G	ENST00000338920.4	+	16	2853	c.2616A>G	c.(2614-2616)caA>caG	p.Q872Q	PRRC2C_ENST00000367742.3_Silent_p.Q874Q|PRRC2C_ENST00000392078.3_Silent_p.Q874Q|PRRC2C_ENST00000426496.2_Silent_p.Q872Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	872					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CACAAGTACAAAAGTTTTTAA	0.398																																						uc010pmg.2																			0											c.(2614-2616)caA>caG		Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.							141	144	143					1																	171509227		2203	4300	6503	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509227A>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2616A>G	1.37:g.171509227A>G			Somatic				PRRC2C_uc010pmh.2_5'UTR	p.Q872Q	NM_015172	NP_055987	WXS	Illumina GAIIx	Phase_I	Q9Y520	PRC2C_HUMAN			15	2882	+			872					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.2616A>G	CCDS1296.2																																																																																				0.398	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		38	71	0	0	0	1	0	38	71					G	171509227	A	G	171509227	2	3	216	1	0	0	0	0	0	0	0	1	1321	11	1	3		3	BAT2L2	1	171509227	Silent	SNP	A	TCGA-EL-A4JW-01A-11D-A257-08		171509227	77741394	1	3853											
UQCRC1	7384	broad.mit.edu	37	3	48638425	48638425	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:48638425T>C	ENST00000203407.5	-	8	1365	c.949A>G	c.(949-951)Act>Gct	p.T317A		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	317					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCACCATAAGTGCAGTCATAG	0.622																																					NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(949-951)Act>Gct		Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	Atovaquone(DB01117)						52	47	48					3																	48638425		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48638425T>C	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.949A>G	3.37:g.48638425T>C	ENSP00000203407:p.Thr317Ala		Somatic					p.T317A	NM_003365	NP_003356	WXS	Illumina GAIIx	Phase_I	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	7	994	-			317					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.949A>G	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345514	0.41498	.	.	ENSG00000010256	ENST00000203407	T	0.10763	2.84	5.72	5.72	0.89469	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.42744	1.35	0.58432	D	0.999997	B;D	0.69078	0.035;0.997	B;D	0.80764	0.057;0.994	T	0.01440	-1.1354	10	0.25106	T	0.35	-26.1093	15.9994	0.80280	0.0:0.0:0.0:1.0	.	202;317	B4DUL5;P31930	.;QCR1_HUMAN	A	317	ENSP00000203407:T317A	ENSP00000203407:T317A	T	-	1	0	UQCRC1	48613429	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.094000	0.57721	2.187000	0.69744	0.459000	0.35465	ACT		0.622	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		14	26	0	0	0	1	0	14	26					C	48638425	T	C	48638425	3	2	216	1	0	0	0	0	1	0	0	0	17016	1696	59	3	517	3	UQCRC1	3	48638425	Missense_Mutation	SNP	T	TCGA-EL-A4JW-01A-11D-A257-08		48638425	149384005	2	3854											
KIAA1257	57501	broad.mit.edu	37	3	128706481	128706481	+	Silent	SNP	G	G	A			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:128706481G>A	ENST00000265068.5	-	4	812	c.645C>T	c.(643-645)gaC>gaT	p.D215D	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Silent_p.D215D|KIAA1257_ENST00000515659.1_Silent_p.D103D	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAGCTCCCACGTCGTCTGTGA	0.428																																						uc003elj.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(643-645)gaC>gaT		Homo sapiens KIAA1257 (KIAA1257), mRNA.							128	125	126					3																	128706481		1844	4081	5925	SO:0001819	synonymous_variant	57501							g.chr3:128706481G>A	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.645C>T	3.37:g.128706481G>A			Somatic				KIAA1257_uc003elg.1_Silent_p.D215D|KIAA1257_uc003eli.4_Silent_p.D103D	p.D215D	NM_020741	NP_065792	WXS	Illumina GAIIx	Phase_I	Q9ULG3	K1257_HUMAN			3	841	-			215					Q8IXY7|Q8N5T4	Silent	SNP	ENST00000265068.5	37	c.645C>T	CCDS46905.1																																																																																				0.428	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		5	64	0	0	0	1	0	5	64					A	128706481	G	A	128706481	2	1	216	1	0	0	0	0	0	0	0	1	8218	1136	40	1		1	KIAA1257	3	128706481	Silent	SNP	G	TCGA-EL-A4JW-01A-11D-A257-08	80068056	128706481	69315949	3	3855											
GPR149	344758	broad.mit.edu	37	3	154138835	154138835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr3:154138835delG	ENST00000389740.2	-	3	1715	c.1616delC	c.(1615-1617)cctfs	p.P539fs		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	539					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TACCTGACGAGGGGTTCTTTC	0.368																																						uc003faa.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1615-1617)cctfs		Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.							56	50	52					3																	154138835		1828	4079	5907	SO:0001589	frameshift_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154138835delG	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1616delC	3.37:g.154138835delG	ENSP00000374390:p.Pro539fs		Somatic					p.P539fs	NM_001038705	NP_001033794	WXS	Illumina GAIIx	Phase_I	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	1716	-			539						Frame_Shift_Del	DEL	ENST00000389740.2	37	c.1616delC	CCDS43162.1																																																																																				0.368	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		16	16						16	16	---	---	---	---	-	154138835	G	-	154138835	7	5	216	1	0	1	0	1	0	0	0	0	6654	1000	35	0	587	0	GPR149	3	154138835	Frame_Shift_Del	DEL	G	TCGA-EL-A4JW-01A-11D-A257-08	25432354	154138835	43883595	4	3856											
FAM120B	84498	broad.mit.edu	37	6	170627281	170627281	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr6:170627281C>T	ENST00000476287.1	+	2	911	c.803C>T	c.(802-804)tCa>tTa	p.S268L	FAM120B_ENST00000540480.1_Missense_Mutation_p.S280L|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.S291L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	268					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTAGCTGTGTCAGACCATATA	0.353																																						uc003qxp.3																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(802-804)tCa>tTa		Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.							73	80	78					6																	170627281		2202	4300	6502	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627281C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.803C>T	6.37:g.170627281C>T	ENSP00000417970:p.Ser268Leu		Somatic				FAM120B_uc003qxo.1_Missense_Mutation_p.S268L|FAM120B_uc011ehd.2_Intron	p.S268L	NM_032448	NP_115824	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	1	911	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	268					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.803C>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467965	0.63625	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.10099	2.92;2.91;2.93	5.36	5.36	0.76844	.	0.251545	0.38005	N	0.001850	T	0.09202	0.0227	L	0.47716	1.5	0.80722	D	1	P;P	0.43826	0.818;0.818	B;B	0.43082	0.318;0.407	T	0.06481	-1.0824	10	0.44086	T	0.13	-15.9785	19.4494	0.94861	0.0:1.0:0.0:0.0	.	268;268	Q96EK7;F2Z2E1	F120B_HUMAN;.	L	280;291;268	ENSP00000444125:S280L;ENSP00000440125:S291L;ENSP00000417970:S268L	ENSP00000436640:S268L	S	+	2	0	FAM120B	170469206	1.000000	0.71417	0.947000	0.38551	0.957000	0.61999	5.487000	0.66863	2.645000	0.89757	0.650000	0.86243	TCA		0.353	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		8	76	0	0	0	1	0	8	76					T	170627281	C	T	170627281	3	4	216	1	0	0	0	0	1	0	0	0	5417	838	29	2	805	2	FAM120B	6	170627281	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		170627281	487786	5	3857											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	48	0	0	0	1	0	13	48					T	140453136	A	T	140453136	3	4	216	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JW-01A-11D-A257-08		140453136	18685527	6	3858											
GOT2	2806	broad.mit.edu	37	16	58750077	58750077	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr16:58750077C>A	ENST00000245206.5	-	8	988	c.860G>T	c.(859-861)cGt>cTt	p.R287L	GOT2_ENST00000434819.2_Missense_Mutation_p.R244L|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	287					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GGCTCCTACACGCTCACCTGA	0.428																																						uc002eof.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(859-861)cGt>cTt		Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						125	114	117					16																	58750077		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58750077C>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2"	138150	"glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.860G>T	16.37:g.58750077C>A	ENSP00000245206:p.Arg287Leu		Somatic				GOT2_uc010vim.1_Missense_Mutation_p.R244L	p.R287L	NM_002080	NP_002071	WXS	Illumina GAIIx	Phase_I	P00505	AATM_HUMAN			7	974	-			287					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.860G>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237324	0.95240	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.98249	-4.82;-4.82	5.32	5.32	0.75619	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	D	0.98595	1.0656	9	.	.	.	4.689	18.3515	0.90339	0.0:1.0:0.0:0.0	.	244;287	E7ERW2;P00505	.;AATM_HUMAN	L	287;244	ENSP00000245206:R287L;ENSP00000394100:R244L	.	R	-	2	0	GOT2	57307578	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.471000	0.80985	2.662000	0.90505	0.591000	0.81541	CGT		0.428	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			20	46	0	0	0	1	0	20	46					A	58750077	C	A	58750077	3	1	216	1	0	0	0	0	1	0	0	0	6581	536	19	4	444	4	GOT2	16	58750077	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		58750077	31604676	7	3859											
CELF5	60680	broad.mit.edu	37	19	3281319	3281319	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr19:3281319C>G	ENST00000292672.2	+	6	763	c.726C>G	c.(724-726)agC>agG	p.S242R	CELF5_ENST00000541430.2_Missense_Mutation_p.S242R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	242					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGCCCTTCAGCCCCTACAGTG	0.642																																						uc002lxm.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(724-726)agC>agG		Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.							98	87	90					19																	3281319		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding	g.chr19:3281319C>G	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.726C>G	19.37:g.3281319C>G	ENSP00000292672:p.Ser242Arg		Somatic				CELF5_uc010dtj.2_Missense_Mutation_p.S242R|CELF5_uc002lxl.2_Missense_Mutation_p.S242R|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	p.S242R	NM_021938	NP_068757	WXS	Illumina GAIIx	Phase_I	Q8N6W0	CELF5_HUMAN			5	763	+			242					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.726C>G	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442570	0.63067	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.28255	2.35;1.77;1.62	3.46	2.39	0.29439	.	0.153984	0.56097	D	0.000023	T	0.43389	0.1245	L	0.59436	1.845	0.39926	D	0.97422	P;D;B	0.71674	0.725;0.998;0.006	B;D;B	0.66847	0.391;0.947;0.005	T	0.42949	-0.9421	10	0.72032	D	0.01	-6.7708	6.3239	0.21232	0.0:0.762:0.0:0.2379	.	128;242;242	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	R	242;242;128	ENSP00000292672:S242R;ENSP00000443498:S242R;ENSP00000335182:S128R	ENSP00000292672:S242R	S	+	3	2	CELF5	3232319	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.603000	0.36794	1.655000	0.50712	0.313000	0.20887	AGC		0.642	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		14	71	0	0	0	1	0	14	71					G	3281319	C	G	3281319	3	3	216	1	0	0	0	0	1	0	0	0	3219	738	26	4	748	4	CELF5	19	3281319	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08		3281319	55847664	8	3860											
RPL18A	6142	broad.mit.edu	37	19	17973820	17973820	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4JW-01A-11D-A257-08	TCGA-EL-A4JW-11A-12D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f3ed41c-8506-4db3-b856-ca823d511258	9b411822-8132-4319-a3a5-0600a50a1c7d	g.chr19:17973820C>T	ENST00000222247.5	+	4	503	c.422C>T	c.(421-423)gCt>gTt	p.A141V	RPL18A_ENST00000599870.1_Missense_Mutation_p.A112V|RPL18A_ENST00000599898.1_Missense_Mutation_p.A102V|RPL18A_ENST00000600147.1_Splice_Site|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	141					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)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CGCCGGCCGGCTGTCAAGCAG	0.677																																						uc002nhp.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(421-423)gCt>gTt		Homo sapiens ribosomal protein L18a (RPL18A), mRNA.							20	23	22					19																	17973820		2202	4299	6501	SO:0001583	missense	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome	g.chr19:17973820C>T	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.422C>T	19.37:g.17973820C>T	ENSP00000222247:p.Ala141Val		Somatic					p.A141V	NM_000980	NP_000971	WXS	Illumina GAIIx	Phase_I	Q02543	RL18A_HUMAN			3	457	+			141						Missense_Mutation	SNP	ENST00000222247.5	37	c.422C>T	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917319	0.17982	.	.	ENSG00000105640	ENST00000222247	.	.	.	4.71	4.71	0.59529	.	0.055575	0.64402	D	0.000001	T	0.60090	0.2242	M	0.64997	1.995	0.80722	D	1	B	0.17268	0.021	B	0.22601	0.04	T	0.57027	-0.7881	8	.	.	.	.	15.5239	0.75887	0.0:1.0:0.0:0.0	.	141	Q02543	RL18A_HUMAN	V	141	.	.	A	+	2	0	RPL18A	17834820	1.000000	0.71417	0.265000	0.24526	0.175000	0.22909	7.688000	0.84153	2.337000	0.79520	0.460000	0.39030	GCT		0.677	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		15	21	0	0	0	1	0	15	21					T	17973820	C	T	17973820	3	4	216	1	0	0	0	0	1	0	0	0	13565	797	28	2	436	2	RPL18A	19	17973820	Missense_Mutation	SNP	C	TCGA-EL-A4JW-01A-11D-A257-08	14692501	17973820	41155163	9	3861											
PELI1	57162	broad.mit.edu	37	2	64323399	64323399	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr2:64323399T>C	ENST00000358912.4	-	6	992	c.550A>G	c.(550-552)Acc>Gcc	p.T184A		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	184					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CCATTAGTGGTCAAGCCATCC	0.428																																						uc002sct.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						c.(550-552)Acc>Gcc		Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.							145	132	137					2																	64323399		2203	4300	6503	SO:0001583	missense	57162				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64323399T>C		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.550A>G	2.37:g.64323399T>C	ENSP00000351789:p.Thr184Ala		Somatic				PELI1_uc002scr.4_Missense_Mutation_p.T5A|PELI1_uc002scs.4_Missense_Mutation_p.T184A	p.T184A	NM_020651	NP_065702	WXS	Illumina GAIIx	Phase_I	Q96FA3	PELI1_HUMAN			5	1010	-			184					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.550A>G	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627442	0.87560	.	.	ENSG00000197329	ENST00000358912	T	0.57436	0.4	5.65	5.65	0.86999	.	0.134439	0.64402	D	0.000002	T	0.75961	0.3921	M	0.89095	3.005	0.58432	D	0.999999	D	0.65815	0.995	D	0.66497	0.944	T	0.80353	-0.1418	10	0.56958	D	0.05	-11.7071	16.1778	0.81874	0.0:0.0:0.0:1.0	.	184	Q96FA3	PELI1_HUMAN	A	184	ENSP00000351789:T184A	ENSP00000351789:T184A	T	-	1	0	PELI1	64176903	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	ACC		0.428	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		5	66	0	0	0	1	0	5	66					C	64323399	T	C	64323399	3	2	217	1	0	0	0	0	1	0	0	0	11721	1667	58	3	714	3	PELI1	2	64323399	Missense_Mutation	SNP	T	TCGA-EL-A4JX-01A-12D-A257-08		64323399	178875974	1	3862											
MAN1A1	4121	broad.mit.edu	37	6	119569448	119569448	+	Silent	SNP	A	A	C			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr6:119569448A>C	ENST00000368468.3	-	6	1410	c.969T>G	c.(967-969)ccT>ccG	p.P323P	MAN1A1_ENST00000368466.2_Silent_p.P346P	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	323					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)		GCAATGCCCAAGGTATTCCAG	0.343																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(967-969)ccT>ccG		Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.							92	89	90					6																	119569448		2203	4300	6503	SO:0001819	synonymous_variant	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119569448A>C	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.969T>G	6.37:g.119569448A>C			Somatic				MAN1A1_uc010kei.2_Silent_p.P346P	p.P323P	NM_005907	NP_005898	WXS	Illumina GAIIx	Phase_I	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	5	1411	-		all_epithelial(87;0.173)	323					E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.969T>G	CCDS5122.1																																																																																				0.343	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		10	29	0	0	0	1	0	10	29					C	119569448	A	C	119569448	2	2	217	1	0	0	0	0	0	0	0	1	9210	59	3	5		5	MAN1A1	6	119569448	Silent	SNP	A	TCGA-EL-A4JX-01A-12D-A257-08		119569448	51545619	2	3863											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	56	0	0	0	1	0	11	56					T	140453136	A	T	140453136	3	4	217	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JX-01A-12D-A257-08		140453136	18685527	3	3864											
AGPAT6	137964	broad.mit.edu	37	8	41470441	41470442	+	Missense_Mutation	DNP	GC	GC	AT	rs371903817		TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr8:41470441_41470442GC>AT	ENST00000396987.3	+	8	1800_1801	c.873_874GC>AT	c.(871-876)gaGCgc>gaATgc	p.R292C	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	292					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TCTGGTTTGAGCGCTCGGAAGT	0.55											OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xnz.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(871-876)gagcgc>gaATgc		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.																																				SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41470441_41470442GC>AT	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		Exception_encountered	8.37:g.41470441_41470442delinsAT	ENSP00000380184:p.Arg292Cys		Somatic	OREG0018739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	901		p.R292C	NM_178819	NP_848934	WXS	Illumina GAIIx	Phase_I	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		7	1812_1813	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	292					Q86V89	Missense_Mutation	DNP	ENST00000396987.3	37	c.873_874GC>AT	CCDS6117.1																																																																																				0.55	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		5	14	0	0	0	1	0	5	14					AT	41470442	GC	AT	41470441	3	1	217	1	0	0	0	0	1	0	0	0	391	962	34	2	899	2	AGPAT6	8	41470441	Missense_Mutation	DNP	GC	TCGA-EL-A4JX-01A-12D-A257-08		41470441	104893581	4	3865											
TNNT3	7140	broad.mit.edu	37	11	1956128	1956128	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr11:1956128G>C	ENST00000397301.1	+	15	701	c.693G>C	c.(691-693)aaG>aaC	p.K231N	TNNT3_ENST00000381548.3_Missense_Mutation_p.K222N|TNNT3_ENST00000381561.4_Missense_Mutation_p.K223N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K201N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K201N|TNNT3_ENST00000381558.1_Missense_Mutation_p.K212N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K218N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K214N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K212N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K220N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381579.3_Missense_Mutation_p.K212N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	231					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)		TTGGGGAGAAGCTGAAACGCC	0.612																																						uc001luu.4																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(658-660)aaG>aaC		Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.							132	136	134					11																	1956128		2202	4299	6501	SO:0001583	missense	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.chr11:1956128G>C	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.693G>C	11.37:g.1956128G>C	ENSP00000380468:p.Lys231Asn		Somatic				TNNT3_uc001lun.2_Missense_Mutation_p.K116N|TNNT3_uc001luw.4_Missense_Mutation_p.K212N|TNNT3_uc001luo.4_Missense_Mutation_p.K212N|TNNT3_uc001lup.4_Missense_Mutation_p.K218N|TNNT3_uc001luq.4_Missense_Mutation_p.K212N|TNNT3_uc001lur.3_Missense_Mutation_p.K212N|TNNT3_uc010qxf.2_Missense_Mutation_p.K218N|TNNT3_uc010qxg.2_Missense_Mutation_p.K152N	p.K220N	NM_006757	NP_006748	WXS	Illumina GAIIx	Phase_I	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	13	872	+		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)	231					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.660G>C		.	.	.	.	.	.	.	.	.	.	.	13.21	2.169166	0.38315	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.28	1.25	0.21368	.	0.096661	0.64402	D	0.000002	D	0.90665	0.7072	M	0.82517	2.595	0.48288	D	0.999622	D;D;D;D;P	0.56035	0.974;0.974;0.974;0.974;0.956	P;P;P;P;P	0.56700	0.804;0.735;0.804;0.804;0.641	D	0.89491	0.3757	10	0.54805	T	0.06	-12.8892	10.4399	0.44460	0.3021:0.0:0.6979:0.0	.	220;212;218;212;231	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	N	220;232;223;222;214;212;218;212;206;201;223;207;212;231;201;201	ENSP00000278317:K220N;ENSP00000370973:K223N;ENSP00000370960:K222N;ENSP00000353815:K214N;ENSP00000370961:K212N;ENSP00000371001:K218N;ENSP00000370991:K212N;ENSP00000370969:K206N;ENSP00000415614:K201N;ENSP00000370975:K223N;ENSP00000344870:K207N;ENSP00000370970:K212N;ENSP00000380468:K231N;ENSP00000380471:K201N;ENSP00000413203:K201N	ENSP00000278317:K220N	K	+	3	2	TNNT3	1912704	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	0.737000	0.26144	0.384000	0.24942	0.313000	0.20887	AAG		0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		31	108	0	0	0	1	0	31	108					C	1956128	G	C	1956128	3	2	217	1	0	0	0	0	1	0	0	0	16329	962	34	4	751	4	TNNT3	11	1956128	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08		1956128	133050388	5	3866											
GJA3	2700	broad.mit.edu	37	13	20716349	20716349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr13:20716349delG	ENST00000241125.3	-	2	1255	c.1079delC	c.(1078-1080)ccgfs	p.P361fs		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	361					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CGCGAGTGGCGGGGAGCTGCT	0.766																																						uc001umx.1																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1078-1080)ccgfs		Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.							2	4	3					13																	20716349		1618	3343	4961	SO:0001589	frameshift_variant	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716349delG	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.1079delC	13.37:g.20716349delG	ENSP00000241125:p.Pro361fs		Somatic				GJA3_uc021rgz.1_Frame_Shift_Del_p.P360fs	p.P360fs	NM_021954	NP_068773	WXS	Illumina GAIIx	Phase_I	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	1	1251	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	360					Q0VAB7|Q9H537	Frame_Shift_Del	DEL	ENST00000241125.3	37	c.1079delC	CCDS9289.1																																																																																				0.766	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		2	4						2	4	---	---	---	---	-	20716349	G	-	20716349	7	5	217	1	0	1	0	1	0	0	0	0	6402	1116	39	0	232	0	GJA3	13	20716349	Frame_Shift_Del	DEL	G	TCGA-EL-A4JX-01A-12D-A257-08		20716349	94453529	6	3867											
KRT9	3857	broad.mit.edu	37	17	39725743	39725743	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr17:39725743G>A	ENST00000246662.4	-	4	1044	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	KRT9_ENST00000588431.1_Missense_Mutation_p.R94C	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	327	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TACTCCTGACGCATGTCATTG	0.502																																						uc002hxe.4																			0		p.R327H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(979-981)Cgt>Tgt		Homo sapiens keratin 9 (KRT9), mRNA.							216	174	188					17																	39725743		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725743G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.979C>T	17.37:g.39725743G>A	ENSP00000246662:p.Arg327Cys		Somatic				JUP_uc010wfs.2_Intron	p.R327C	NM_000226	NP_000217	WXS	Illumina GAIIx	Phase_I	P35527	K1C9_HUMAN			3	1045	-		Breast(137;0.000307)	327			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.979C>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163226	0.38217	.	.	ENSG00000171403	ENST00000246662	D	0.93426	-3.22	4.25	3.25	0.37280	Filament (1);	.	.	.	.	D	0.94248	0.8153	H	0.96996	3.92	0.39645	D	0.970389	D	0.54207	0.965	B	0.40901	0.343	D	0.94494	0.7704	9	0.87932	D	0	.	6.4217	0.21748	0.0984:0.0:0.5989:0.3027	.	327	P35527	K1C9_HUMAN	C	327	ENSP00000246662:R327C	ENSP00000246662:R327C	R	-	1	0	KRT9	36979269	1.000000	0.71417	0.658000	0.29665	0.276000	0.26787	1.819000	0.39022	1.887000	0.54652	0.561000	0.74099	CGT		0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		9	47	0	0	0	1	0	9	47					A	39725743	G	A	39725743	3	1	217	1	0	0	0	0	1	0	0	0	8501	1087	38	1	908	1	KRT9	17	39725743	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08		39725743	41469467	7	3868											
GPR4	2828	broad.mit.edu	37	19	46094655	46094655	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chr19:46094655T>A	ENST00000323040.4	-	2	1414	c.470A>T	c.(469-471)gAg>gTg	p.E157V	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	157					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)		TCGGAAGAGCTCGTCATGGAA	0.652																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(469-471)gAg>gTg		Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.							59	60	60					19																	46094655		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094655T>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.470A>T	19.37:g.46094655T>A	ENSP00000319744:p.Glu157Val		Somatic				OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.E157V	p.E157V	NM_005282	NP_005273	WXS	Illumina GAIIx	Phase_I	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	1	1415	-			157					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.470A>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921780	0.73213	.	.	ENSG00000177464	ENST00000323040	T	0.72282	-0.64	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.76307	0.3969	L	0.45285	1.41	0.42849	D	0.994078	D	0.71674	0.998	D	0.72625	0.978	T	0.77664	-0.2503	10	0.56958	D	0.05	.	9.3319	0.38027	0.0:0.0:0.1807:0.8193	.	157	P46093	GPR4_HUMAN	V	157	ENSP00000319744:E157V	ENSP00000319744:E157V	E	-	2	0	GPR4	50786495	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.994000	0.56994	1.978000	0.57642	0.374000	0.22700	GAG		0.652	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		11	85	0	0	0	1	0	11	85					A	46094655	T	A	46094655	3	1	217	1	0	0	0	0	1	0	0	0	6694	1551	54	5	622	5	GPR4	19	46094655	Missense_Mutation	SNP	T	TCGA-EL-A4JX-01A-12D-A257-08		46094655	13034328	8	3869											
PHKA2	5256	broad.mit.edu	37	X	18913268	18913268	+	Silent	SNP	C	C	T			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chrX:18913268C>T	ENST00000379942.4	-	31	3989	c.3324G>A	c.(3322-3324)tcG>tcA	p.S1108S	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1108					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)					CTCGGGTCGTCGAGGATGGGA	0.527																																						uc004cyv.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.(3322-3324)tcG>tcA		Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.							173	147	156					X																	18913268		2203	4300	6503	SO:0001819	synonymous_variant	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:18913268C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3324G>A	X.37:g.18913268C>T			Somatic				PHKA2_uc010nfe.1_Silent_p.S140S|PHKA2_uc010nff.1_Non-coding_Transcript	p.S1108S	NM_000292	NP_000283	WXS	Illumina GAIIx	Phase_I	P46019	KPB2_HUMAN			30	3754	-	Hepatocellular(33;0.183)		1108					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3324G>A	CCDS14190.1																																																																																				0.527	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		25	89	0	0	0	1	0	25	89					T	18913268	C	T	18913268	2	4	217	1	0	0	0	0	0	0	0	1	11844	871	31	1		1	PHKA2	23	18913268	Silent	SNP	C	TCGA-EL-A4JX-01A-12D-A257-08		18913268	136357292	9	3870											
GPR101	83550	broad.mit.edu	37	X	136112376	136112376	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4JX-01A-12D-A257-08	TCGA-EL-A4JX-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd	7edd3289-ff98-4237-a5bf-a3ece719e294	g.chrX:136112376G>T	ENST00000298110.1	-	1	1457	c.1458C>A	c.(1456-1458)gaC>gaA	p.D486E		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	486						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)					TTCCGGGCAGGTCTGGGTGGC	0.478																																						uc011mwh.2																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(1456-1458)gaC>gaA		Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.							101	95	97					X																	136112376		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112376G>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1458C>A	X.37:g.136112376G>T	ENSP00000298110:p.Asp486Glu		Somatic					p.D486E	NM_054021	NP_473362	WXS	Illumina GAIIx	Phase_I	Q96P66	GP101_HUMAN			0	1458	-	Acute lymphoblastic leukemia(192;0.000127)		486					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.1458C>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	5.090	0.202294	0.09652	.	.	ENSG00000165370	ENST00000298110	T	0.36157	1.27	5.08	-1.35	0.09114	.	.	.	.	.	T	0.16041	0.0386	N	0.14661	0.345	0.20307	N	0.999919	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	9	0.11182	T	0.66	-9.416	5.3993	0.16286	0.3315:0.2257:0.4428:0.0	.	486	Q96P66	GP101_HUMAN	E	486	ENSP00000298110:D486E	ENSP00000298110:D486E	D	-	3	2	GPR101	135940042	1.000000	0.71417	0.158000	0.22627	0.382000	0.30200	1.202000	0.32271	-0.414000	0.07495	0.429000	0.28392	GAC		0.478	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			22	77	0	0	0	1	0	22	77					T	136112376	G	T	136112376	3	4	217	1	0	0	0	0	1	0	0	0	6622	1252	44	4	71	4	GPR101	23	136112376	Missense_Mutation	SNP	G	TCGA-EL-A4JX-01A-12D-A257-08	117199108	136112376	19158184	10	3871											
DCLRE1B	64858	broad.mit.edu	37	1	114454228	114454228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:114454228G>A	ENST00000369563.3	+	4	1460	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	338					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTTCTCTGGCTGTTAGAAA	0.498								Other identified genes with known or suspected DNA repair function																														uc001eeg.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1012-1014)tgG>tgA	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.							57	59	58					1																	114454228		2203	4300	6503	SO:0001587	stop_gained	64858				DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454228G>A	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"APOLLO", "PSO2 homolog (S. cerevisiae)"	609683	"DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1014G>A	1.37:g.114454228G>A	ENSP00000358576:p.Trp338*		Somatic				DCLRE1B_uc001eeh.3_Nonsense_Mutation_p.W212*|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.W212*	p.W338*	NM_022836	NP_073747	WXS	Illumina GAIIx	Phase_I	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1308	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	338					Q9H9E5	Nonsense_Mutation	SNP	ENST00000369563.3	37	c.1014G>A	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	39	7.529879	0.98342	.	.	ENSG00000118655	ENST00000369563	.	.	.	6.03	4.16	0.48862	.	0.753124	0.13281	N	0.399712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-18.9939	4.3263	0.11041	0.1353:0.1186:0.6088:0.1373	.	.	.	.	X	338	.	ENSP00000358576:W338X	W	+	3	0	DCLRE1B	114255751	0.844000	0.29557	0.811000	0.32455	0.850000	0.48378	0.680000	0.25306	0.868000	0.35678	0.655000	0.94253	TGG		0.498	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		20	45	0	0	0	1	0	20	45					A	114454228	G	A	114454228	4	1	218	1	0	0	0	0	0	1	0	0	4295	1212	42	2	1028	2	DCLRE1B	1	114454228	Nonsense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08		114454228	134796393	1	3872											
TGFB2	7042	broad.mit.edu	37	1	218610805	218610805	+	Silent	SNP	G	G	C	rs142741166		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr1:218610805G>C	ENST00000366930.4	+	6	1520	c.1053G>C	c.(1051-1053)ccG>ccC	p.P351P	TGFB2_ENST00000366929.4_Silent_p.P379P|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	351					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GAGCATGCCCGTATTTATGGA	0.483																																						uc001hln.3																			0		p.C379S(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1135-1137)ccG>ccC		Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 1, mRNA.							120	111	114					1																	218610805		2203	4300	6503	SO:0001819	synonymous_variant	7042				SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218610805G>C	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1053G>C	1.37:g.218610805G>C			Somatic				TGFB2_uc001hlm.3_Silent_p.P351P|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	p.P379P	NM_001135599	NP_001129071	WXS	Illumina GAIIx	Phase_I	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	6	2505	+			351					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.1137G>C	CCDS1521.1																																																																																				0.483	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		4	31	0	0	0	1	0	4	31					C	218610805	G	C	218610805	2	2	218	1	0	0	0	0	0	0	0	1	15815	1132	40	4		4	TGFB2	1	218610805	Silent	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08	104156577	218610805	30639816	2	3873											
ERAP2	64167	broad.mit.edu	37	5	96215823	96215823	+	Missense_Mutation	SNP	A	A	G	rs554491944		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr5:96215823A>G	ENST00000437043.3	+	2	1145	c.434A>G	c.(433-435)cAt>cGt	p.H145R	ERAP2_ENST00000379904.4_Missense_Mutation_p.H145R|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.H145R	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	145					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)		TACCCTGCTCATGAACAAATT	0.433													A|||	1	0.000199681	0	0	5008	,	,		23079	0		0	False		,,,				2504	0.001					uc003kmq.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.(433-435)cAt>cGt		Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.							90	82	85					5																	96215823		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.chr5:96215823A>G	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.434A>G	5.37:g.96215823A>G	ENSP00000400376:p.His145Arg		Somatic				ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.H145R|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.H139R|ERAP2_uc003kmu.3_Non-coding_Transcript	p.H145R	NM_022350	NP_071745	WXS	Illumina GAIIx	Phase_I	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	1	1144	+		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)	145					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.434A>G	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.832136	0.32421	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73	4.55	4.55	0.56014	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	N	0.17674	0.51	0.37286	D	0.90806	B;B	0.22983	0.078;0.059	B;B	0.26094	0.039;0.066	T	0.48410	-0.9038	10	0.19147	T	0.46	.	9.1545	0.36985	0.8368:0.0:0.0:0.1632	.	145;145	Q6P179-3;Q6P179	.;ERAP2_HUMAN	R	145	ENSP00000400376:H145R;ENSP00000421175:H145R;ENSP00000421849:H145R;ENSP00000369235:H145R;ENSP00000425758:H145R	ENSP00000369235:H145R	H	+	2	0	ERAP2	96241579	1.000000	0.71417	0.889000	0.34880	0.870000	0.49936	4.098000	0.57748	1.825000	0.53177	0.383000	0.25322	CAT		0.433	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		9	23	0	0	0	1	0	9	23					G	96215823	A	G	96215823	3	3	218	1	0	0	0	0	1	0	0	0	5204	217	8	3	436	3	ERAP2	5	96215823	Missense_Mutation	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08		96215823	84699437	3	3874											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	42	0	0	0	1	0	19	42					T	140453136	A	T	140453136	3	4	218	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08		140453136	18685527	4	3875											
LRRTM3	347731	broad.mit.edu	37	10	68687364	68687364	+	Silent	SNP	C	C	T			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:68687364C>T	ENST00000361320.4	+	2	1268	c.690C>T	c.(688-690)agC>agT	p.S230S	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	230					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						GGTTGGTCAGCCTTCAGAACC	0.458																																						uc001jmz.1																			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.(688-690)agC>agT		Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.							87	89	88					10																	68687364		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68687364C>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.690C>T	10.37:g.68687364C>T			Somatic				CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.S230S	p.S230S	NM_178011	NP_821079	WXS	Illumina GAIIx	Phase_I	Q86VH5	LRRT3_HUMAN			1	1240	+			230					A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.690C>T	CCDS7270.1																																																																																				0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		28	52	0	0	0	1	0	28	52					T	68687364	C	T	68687364	2	4	218	1	0	0	0	0	0	0	0	1	9041	738	26	2		2	LRRTM3	10	68687364	Silent	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		68687364	66847383	5	3876											
SORCS3	22986	broad.mit.edu	37	10	106976772	106976772	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr10:106976772G>A	ENST00000369701.3	+	19	2853	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	SORCS3_ENST00000369699.4_Missense_Mutation_p.E162K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	876	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGCCCCATCGAGGACGGCAT	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			0		p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2626-2628)Gag>Aag		Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.							169	129	142					10																	106976772		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976772G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2626G>A	10.37:g.106976772G>A	ENSP00000358715:p.Glu876Lys		Somatic				SORCS3_uc010qqz.1_Non-coding_Transcript	p.E876K	NM_014978	NP_055793	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2853	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	876			PKD.		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2626G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358173	0.95854	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.62788	-0.0;-0.0	5.87	5.87	0.94306	PKD domain (4);	0.297159	0.37577	N	0.002037	T	0.75989	0.3925	M	0.64997	1.995	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	T	0.72567	-0.4254	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	876	Q9UPU3	SORC3_HUMAN	K	876;162	ENSP00000358715:E876K;ENSP00000358713:E162K	.	E	+	1	0	SORCS3	106966762	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	7.579000	0.82511	2.941000	0.99782	0.655000	0.94253	GAG		0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	29	0	0	0	1	0	11	29					A	106976772	G	A	106976772	3	1	218	1	0	0	0	0	1	0	0	0	14932	1059	37	1	2700	1	SORCS3	10	106976772	Missense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08	38289408	106976772	28557975	6	3877											
KRTAP5-6	440023	broad.mit.edu	37	11	1718519	1718519	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr11:1718519G>C	ENST00000382160.1	+	1	95	c.44G>C	c.(43-45)gGg>gCg	p.G15A		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	15						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCGGCTGTGGGGGCTGTGGC	0.652																																						uc001lua.3																			0		p.G15G(1)		endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(43-45)gGg>gCg		Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.							65	83	77					11																	1718519		2200	4298	6498	SO:0001583	missense	440023					keratin filament		g.chr11:1718519G>C	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.44G>C	11.37:g.1718519G>C	ENSP00000371595:p.Gly15Ala		Somatic				MOB2_uc001ltq.2_Intron	p.G15A	NM_001012416	NP_001012416	WXS	Illumina GAIIx	Phase_I	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	0	95	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	15					A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	c.44G>C	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	g	2.645	-0.283318	0.05642	.	.	ENSG00000205864	ENST00000382160	T	0.09445	2.98	2.86	2.86	0.33363	.	.	.	.	.	T	0.30070	0.0753	M	0.85197	2.74	0.24171	N	0.995625	D	0.71674	0.998	D	0.70487	0.969	T	0.26643	-1.0097	9	0.09084	T	0.74	.	11.5464	0.50696	0.0:0.0:1.0:0.0	.	15	Q6L8G9	KRA56_HUMAN	A	15	ENSP00000371595:G15A	ENSP00000371595:G15A	G	+	2	0	KRTAP5-6	1675095	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	4.044000	0.57361	1.604000	0.50143	0.410000	0.27636	GGG		0.652	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			40	99	0	0	0	1	0	40	99					C	1718519	G	C	1718519	3	2	218	1	0	0	0	0	1	0	0	0	8565	1232	43	4	46	4	KRTAP5-6	11	1718519	Missense_Mutation	SNP	G	TCGA-EL-A4JZ-01A-11D-A257-08		1718519	133287997	7	3878											
WRAP53	55135	broad.mit.edu	37	17	7592188	7592188	+	Silent	SNP	T	T	C			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr17:7592188T>C	ENST00000316024.5	+	1	2570	c.222T>C	c.(220-222)tcT>tcC	p.S74S	TP53_ENST00000455263.2_5'Flank|RP11-199F11.2_ENST00000571370.1_RNA|WRAP53_ENST00000396463.2_Silent_p.S74S|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000445888.2_5'Flank|WRAP53_ENST00000431639.2_Silent_p.S74S|WRAP53_ENST00000457584.2_Silent_p.S74S|TP53_ENST00000420246.2_5'Flank|WRAP53_ENST00000534050.1_Silent_p.S74S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	74					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACCCAGTTTCTCTCTCCACTC	0.582																																						uc010vuh.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(220-222)tcT>tcC		Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.							79	95	90					17																	7592188		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding	g.chr17:7592188T>C	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.222T>C	17.37:g.7592188T>C			Somatic				WRAP53_uc010vui.2_Silent_p.S74S|WRAP53_uc002gip.3_Silent_p.S74S|WRAP53_uc002gir.3_Silent_p.S74S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S74S|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	p.S74S	NM_001143990	NP_060551	WXS	Illumina GAIIx	Phase_I	Q9BUR4	WAP53_HUMAN			1	377	+			74					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.222T>C	CCDS11119.1																																																																																				0.582	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		29	59	0	0	0	1	0	29	59					C	7592188	T	C	7592188	2	2	218	1	0	0	0	0	0	0	0	1	17397	1538	54	3		3	WRAP53	17	7592188	Silent	SNP	T	TCGA-EL-A4JZ-01A-11D-A257-08		7592188	73603022	8	3879											
AKT2	208	broad.mit.edu	37	19	40762959	40762959	+	Missense_Mutation	SNP	C	C	T	rs387906659		TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:40762959C>T	ENST00000392038.2	-	3	347	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT2_ENST00000424901.1_Missense_Mutation_p.E17K|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000311278.6_Missense_Mutation_p.E17K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	17	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in HIHGHH; exhibits plasma membrane localization in serum-starved cells and produced inappropriate tonic nuclear exclusion of FOXO1 in preadipocytes). {ECO:0000269|PubMed:21979934}.		activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.E17K(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTGATGTATTCACCTGAAATG	0.577			A		"ovarian, pancreatic "																																	uc002onf.3				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"ovarian, pancreatic "		1	Substitution - Missense(1)	p.E17K(2)	breast(1)	breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(49-51)Gaa>Aaa		Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.							73	65	68					19																	40762959		2203	4300	6503	SO:0001583	missense	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40762959C>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.49G>A	19.37:g.40762959C>T	ENSP00000375892:p.Glu17Lys		Somatic				AKT2_uc010egs.3_Missense_Mutation_p.E17K|AKT2_uc010xvj.2_5'UTR|AKT2_uc010egt.3_5'UTR|AKT2_uc010egu.2_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.E17K	p.E17K	NM_001626	NP_001229957	WXS	Illumina GAIIx	Phase_I	P31751	AKT2_HUMAN	Lung(22;0.000499)		2	348	-			17			PH.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.49G>A	CCDS12552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.00|18.00	3.525681|3.525681	0.64860|0.64860	.|.	.|.	ENSG00000105221|ENSG00000105221	ENST00000358335|ENST00000392038;ENST00000424901;ENST00000311278;ENST00000537834;ENST00000452077;ENST00000392037;ENST00000416362;ENST00000423127;ENST00000456441;ENST00000416994;ENST00000427375;ENST00000441941	.|T;T;T;T;T;T;T;T;T;T;T	.|0.37915	.|1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60222	.|0.2252	M|M	0.67700|0.67700	2.07|2.07	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.994;1.0;1.0	.|D;D;D	.|0.91635	.|0.974;0.997;0.999	.|T	.|0.61705	.|-0.7008	.|10	.|0.72032	.|D	.|0.01	.|.	17.8288|17.8288	0.88674|0.88674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|17;17;17	.|B7Z8Z9;Q0VAN0;P31751	.|.;.;AKT2_HUMAN	.|K	-1|17	.|ENSP00000375892:E17K;ENSP00000399532:E17K;ENSP00000309428:E17K;ENSP00000404083:E17K;ENSP00000375891:E17K;ENSP00000407999:E17K;ENSP00000403842:E17K;ENSP00000396532:E17K;ENSP00000392458:E17K;ENSP00000403890:E17K;ENSP00000396968:E17K	.|ENSP00000309428:E17K	.|E	-|-	.|1	.|0	AKT2|AKT2	45454799|45454799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.301000|7.301000	0.78850|0.78850	2.758000|2.758000	0.94735|0.94735	0.561000|0.561000	0.74099|0.74099	.|GAA		0.577	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		12	39	0	0	0	1	0	12	39					T	40762959	C	T	40762959	3	4	218	1	0	0	0	0	1	0	0	0	480	835	29	2	1444	2	AKT2	19	40762959	Missense_Mutation	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		40762959	18366024	9	3880											
ZNF549	256051	broad.mit.edu	37	19	58049389	58049389	+	Silent	SNP	A	A	G			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr19:58049389A>G	ENST00000376233.3	+	4	1198	c.1017A>G	c.(1015-1017)aaA>aaG	p.K339K	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.K326K|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	339					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(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		TATGTGGGAAATCATTCCGCC	0.428																																						uc002qpb.2																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1015-1017)aaA>aaG		Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.							95	90	92					19																	58049389		2203	4300	6503	SO:0001819	synonymous_variant	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049389A>G	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"Zinc fingers, C2H2-type", "-"	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1017A>G	19.37:g.58049389A>G			Somatic				ZNF549_uc002qpa.2_Silent_p.K326K	p.K339K	NM_001199295	NP_001186224	WXS	Illumina GAIIx	Phase_I	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1266	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	339					B3KV91|O43336|Q8NAR4	Silent	SNP	ENST00000376233.3	37	c.1017A>G	CCDS56106.1																																																																																				0.428	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		21	45	0	0	0	1	0	21	45					G	58049389	A	G	58049389	2	3	218	1	0	0	0	0	0	0	0	1	17978	98	4	3		3	ZNF549	19	58049389	Silent	SNP	A	TCGA-EL-A4JZ-01A-11D-A257-08	17286430	58049389	1079594	10	3881											
PREX1	57580	broad.mit.edu	37	20	47256389	47256389	+	Silent	SNP	C	C	T			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr20:47256389C>T	ENST00000371941.3	-	30	3841	c.3819G>A	c.(3817-3819)ctG>ctA	p.L1273L	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Silent_p.L1273L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1273					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TAATCTGGATCAGGCTCCGGC	0.552																																						uc002xtw.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3817-3819)ctG>ctA		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							156	150	152					20																	47256389		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	g.chr20:47256389C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3819G>A	20.37:g.47256389C>T			Somatic				PREX1_uc002xtv.1_Silent_p.L570L	p.L1273L	NM_020820	NP_065871	WXS	Illumina GAIIx	Phase_I	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		29	3842	-			1273					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.3819G>A	CCDS13410.1																																																																																				0.552	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		6	105	0	0	0	1	0	6	105					T	47256389	C	T	47256389	2	4	218	1	0	0	0	0	0	0	0	1	12476	813	29	2		2	PREX1	20	47256389	Silent	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		47256389	15769131	11	3882											
NCAM2	4685	broad.mit.edu	37	21	22849723	22849723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chr21:22849723delA	ENST00000400546.1	+	15	2257	c.2008delA	c.(2008-2010)aatfs	p.N670fs	NCAM2_ENST00000284894.7_Frame_Shift_Del_p.N528fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	670	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACAGCTGCCAATAGATTGGG	0.388																																						uc002yld.2																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(2008-2010)aatfs		Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.							87	83	84					21																	22849723		1872	4113	5985	SO:0001589	frameshift_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849723delA		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2008delA	21.37:g.22849723delA	ENSP00000383392:p.Asn670fs		Somatic				NCAM2_uc011acb.2_Frame_Shift_Del_p.N528fs	p.N670fs	NM_004540	NP_004531	WXS	Illumina GAIIx	Phase_I	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	14	2257	+		Lung NSC(9;0.195)	670			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Del	DEL	ENST00000400546.1	37	c.2008delA	CCDS42910.1																																																																																				0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		14	31						14	31	---	---	---	---	-	22849723	A	-	22849723	7	5	218	1	0	1	0	1	0	0	0	0	10203	130	5	0	2066	0	NCAM2	21	22849723	Frame_Shift_Del	DEL	A	TCGA-EL-A4JZ-01A-11D-A257-08		22849723	25280172	12	3883											
CLIC2	1193	broad.mit.edu	37	X	154508527	154508527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A4JZ-01A-11D-A257-08	TCGA-EL-A4JZ-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1a52c0e-568c-48d0-88ea-51ff51ffe3e3	e9ec5fc8-ac1c-4c5a-a382-6a5fcb34aa87	g.chrX:154508527C>A	ENST00000369449.2	-	5	711	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	165	C-terminal.|Foot loop.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTGGGGGTTCCTCAGCACTG	0.423																																					Melanoma(108;581 1592 2289 21669 28822)	uc004fnf.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(493-495)Gaa>Taa		Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.							81	77	78					X																	154508527		2203	4300	6503	SO:0001587	stop_gained	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154508527C>A	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.493G>T	X.37:g.154508527C>A	ENSP00000358460:p.Glu165*		Somatic				CLIC2_uc010nvj.1_Nonsense_Mutation_p.E183*	p.E165*	NM_001289	NP_001280	WXS	Illumina GAIIx	Phase_I	O15247	CLIC2_HUMAN			4	743	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		165			C-terminal.|Foot loop.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Nonsense_Mutation	SNP	ENST00000369449.2	37	c.493G>T	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.305729	0.81247	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	.	.	.	4.68	4.68	0.58851	.	0.298284	0.37761	N	0.001942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.578	14.4807	0.67579	0.0:1.0:0.0:0.0	.	.	.	.	X	165;123	.	ENSP00000318558:E123X	E	-	1	0	CLIC2	154161721	0.999000	0.42202	0.996000	0.52242	0.941000	0.58515	2.516000	0.45520	2.085000	0.62840	0.284000	0.19432	GAA		0.423	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		21	42	0	0	0	1	0	21	42					A	154508527	C	A	154508527	4	1	218	1	0	0	0	0	0	1	0	0	3526	864	30	4	258	4	CLIC2	23	154508527	Nonsense_Mutation	SNP	C	TCGA-EL-A4JZ-01A-11D-A257-08		154508527	762033	13	3884											
LCE1C	353133	broad.mit.edu	37	1	152777911	152777911	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr1:152777911T>A	ENST00000607093.1	-	1	43	c.44A>T	c.(43-45)aAg>aTg	p.K15M	LCE1C_ENST00000368768.1_Missense_Mutation_p.K15M			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	15	Pro-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gggggtgcacttgggagggGG	0.607																																						uc001fap.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(43-45)aAg>aTg		Homo sapiens late cornified envelope 1C (LCE1C), mRNA.							40	38	39					1																	152777911		2202	4300	6502	SO:0001583	missense	353133				keratinization			g.chr1:152777911T>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.44A>T	1.37:g.152777911T>A	ENSP00000475270:p.Lys15Met		Somatic				LCE1C_uc021ozi.1_Missense_Mutation_p.K15M	p.K15M	NM_178351	NP_848128	WXS	Illumina GAIIx	Phase_I	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	95	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		15			Pro-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.44A>T	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.346045	0.24426	.	.	ENSG00000197084	ENST00000368768	T	0.07688	3.17	3.39	3.39	0.38822	.	.	.	.	.	T	0.11879	0.0289	M	0.83774	2.66	0.24947	N	0.991817	D	0.53312	0.959	P	0.54706	0.759	T	0.06127	-1.0844	9	0.87932	D	0	.	8.4875	0.33080	0.0:0.0:0.0:1.0	.	15	Q5T751	LCE1C_HUMAN	M	15	ENSP00000357757:K15M	ENSP00000357757:K15M	K	-	2	0	LCE1C	151044535	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.212000	0.42835	1.300000	0.44818	0.533000	0.62120	AAG		0.607	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		9	20	0	0	0	1	0	9	20					A	152777911	T	A	152777911	3	1	219	1	0	0	0	0	1	0	0	0	8661	1609	56	5	316	5	LCE1C	1	152777911	Missense_Mutation	SNP	T	TCGA-EL-A4K0-01A-11D-A257-08		152777911	96472710	1	3885											
HMCN1	83872	broad.mit.edu	37	1	186052052	186052052	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr1:186052052C>A	ENST00000271588.4	+	57	9072	c.8843C>A	c.(8842-8844)aCa>aAa	p.T2948K	HMCN1_ENST00000367492.2_Missense_Mutation_p.T2948K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2948	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGAGAACACAGCTGGGAGT	0.353																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8842-8844)aCa>aAa		Homo sapiens hemicentin 1 (HMCN1), mRNA.							73	74	74					1																	186052052		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186052052C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8843C>A	1.37:g.186052052C>A	ENSP00000271588:p.Thr2948Lys		Somatic				MIR548F1_uc021pgf.1_Intron	p.T2948K	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			56	9072	+			2948			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8843C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380978	0.24944	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.28666	1.6;1.6	5.44	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.378223	0.31484	N	0.007576	T	0.28566	0.0707	N	0.20401	0.57	0.29956	N	0.819825	D	0.76494	0.999	D	0.70016	0.967	T	0.21348	-1.0248	10	0.05620	T	0.96	.	6.4966	0.22146	0.0:0.7868:0.0:0.2132	.	2948	Q96RW7	HMCN1_HUMAN	K	2948	ENSP00000271588:T2948K;ENSP00000356462:T2948K	ENSP00000271588:T2948K	T	+	2	0	HMCN1	184318675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.053000	0.41326	2.540000	0.85666	0.591000	0.81541	ACA		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	20	0	0	0	1	0	9	20					A	186052052	C	A	186052052	3	1	219	1	0	0	0	0	1	0	0	0	7220	478	17	4	9069	4	HMCN1	1	186052052	Missense_Mutation	SNP	C	TCGA-EL-A4K0-01A-11D-A257-08	33274141	186052052	63198569	2	3886											
SETD5	55209	broad.mit.edu	37	3	9482327	9482327	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr3:9482327C>T	ENST00000406341.1	+	7	945	c.755C>T	c.(754-756)aCt>aTt	p.T252I	SETD5_ENST00000407969.1_Missense_Mutation_p.T271I|SETD5_ENST00000302463.6_Missense_Mutation_p.T154I|SETD5_ENST00000402198.1_Missense_Mutation_p.T252I|SETD5_ENST00000402466.1_Missense_Mutation_p.T154I			Q9C0A6	SETD5_HUMAN	SET domain containing 5	252										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATTTTAGACACTATTAATAAG	0.393																																						uc003brt.3																			0		p.I252I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(754-756)aCt>aTt		Homo sapiens SET domain containing 5 (SETD5), mRNA.							74	70	71					3																	9482327		1863	4105	5968	SO:0001583	missense	55209							g.chr3:9482327C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.755C>T	3.37:g.9482327C>T	ENSP00000383939:p.Thr252Ile		Somatic				SETD5_uc003brs.1_Missense_Mutation_p.T233I|SETD5_uc003bru.3_Missense_Mutation_p.T154I|SETD5_uc003brv.3_Missense_Mutation_p.T141I|SETD5_uc010hck.3_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.3_5'Flank	p.T252I	NM_001080517	NP_001073986	WXS	Illumina GAIIx	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	7	1190	+	Medulloblastoma(99;0.227)		252					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.755C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170312	0.94768	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.92699	-2.76;-3.09;-2.76;-2.76;0.8;-3.09	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	N	0.19112	0.55	0.58432	D	0.999999	D;D;B	0.89917	1.0;0.999;0.23	D;D;B	0.87578	0.998;0.991;0.183	D	0.92896	0.6335	10	0.41790	T	0.15	-5.8603	19.4544	0.94882	0.0:1.0:0.0:0.0	.	154;252;271	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	I	252;154;252;271;141;154	ENSP00000385852:T252I;ENSP00000384429:T154I;ENSP00000383939:T252I;ENSP00000384114:T271I;ENSP00000408837:T141I;ENSP00000302028:T154I	ENSP00000302028:T154I	T	+	2	0	SETD5	9457327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.675000	0.68123	2.693000	0.91896	0.650000	0.86243	ACT		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	13	0	0	0	1	0	5	13					T	9482327	C	T	9482327	3	4	219	1	0	0	0	0	1	0	0	0	14134	565	20	2	777	2	SETD5	3	9482327	Missense_Mutation	SNP	C	TCGA-EL-A4K0-01A-11D-A257-08		9482327	188540103	3	3887											
LRRC33	375387	broad.mit.edu	37	3	196387348	196387348	+	Silent	SNP	G	G	C			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr3:196387348G>C	ENST00000328557.4	+	3	1037	c.834G>C	c.(832-834)ctG>ctC	p.L278L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	278					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGACCCTCCTGCTGCGCGACA	0.627																																						uc003fwv.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40						c.(832-834)ctG>ctC		Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.							106	107	107					3																	196387348		2203	4300	6503	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196387348G>C	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.834G>C	3.37:g.196387348G>C			Somatic					p.L278L	NM_198565	NP_940967	WXS	Illumina GAIIx	Phase_I	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	2	938	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		278						Silent	SNP	ENST00000328557.4	37	c.834G>C	CCDS3319.1																																																																																				0.627	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		34	92	0	0	0	1	0	34	92					C	196387348	G	C	196387348	2	2	219	1	0	0	0	0	0	0	0	1	8988	1306	46	4		4	LRRC33	3	196387348	Silent	SNP	G	TCGA-EL-A4K0-01A-11D-A257-08	186905021	196387348	1635082	4	3888											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	45	0	0	0	1	0	25	45					T	140453136	A	T	140453136	3	4	219	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		140453136	18685527	5	3889											
ARCN1	372	broad.mit.edu	37	11	118455289	118455289	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr11:118455289A>G	ENST00000264028.4	+	5	843	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.M162V|ARCN1_ENST00000359415.4_Missense_Mutation_p.M291V	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	250					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAAACCATCATGTCCTCTAG	0.413																																						uc009zag.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(871-873)Atg>Gtg		Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.							112	101	105					11																	118455289		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol		g.chr11:118455289A>G	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.748A>G	11.37:g.118455289A>G	ENSP00000264028:p.Met250Val		Somatic				ARCN1_uc001ptq.3_Missense_Mutation_p.M250V|ARCN1_uc010ryg.2_Missense_Mutation_p.M162V	p.M291V	NM_001142281	NP_001135753	WXS	Illumina GAIIx	Phase_I	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	5	1073	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	250			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.871A>G	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	A	9.972	1.225719	0.22542	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.41400	1.0;1.0;1.0	5.65	3.3	0.37823	.	0.211908	0.64402	N	0.000019	T	0.12518	0.0304	N	0.00583	-1.355	0.42644	D	0.993428	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05146	-1.0903	10	0.25106	T	0.35	-0.6389	8.4405	0.32812	0.7833:0.0:0.2167:0.0	.	162;291;250	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	162;291;250	ENSP00000376599:M162V;ENSP00000352385:M291V;ENSP00000264028:M250V	ENSP00000264028:M250V	M	+	1	0	ARCN1	117960499	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	2.640000	0.46579	0.410000	0.25675	0.533000	0.62120	ATG		0.413	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			25	40	0	0	0	1	0	25	40					G	118455289	A	G	118455289	3	3	219	1	0	0	0	0	1	0	0	0	842	217	8	3	766	3	ARCN1	11	118455289	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		118455289	16551227	6	3890											
NELL2	4753	broad.mit.edu	37	12	45269298	45269298	+	Intron	DEL	A	A	-			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr12:45269298delA	ENST00000429094.2	-	2	560				NELL2_ENST00000549027.1_Frame_Shift_Del_p.L15fs|NELL2_ENST00000437801.2_Intron|NELL2_ENST00000548826.1_Intron|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000395487.2_Frame_Shift_Del_p.L15fs|NELL2_ENST00000551601.1_Frame_Shift_Del_p.L15fs	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACCTGAGATCAGCAGCCAAGC	0.557																																						uc001rof.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(43-45)ctgfs		Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 4, mRNA.							87	83	84					12																	45269298		1568	3582	5150	SO:0001627	intron_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269298delA	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.56-162T>-	12.37:g.45269298delA			Somatic				NELL2_uc001rog.2_Intron|NELL2_uc001roh.2_Intron|NELL2_uc009zkd.2_Frame_Shift_Del_p.L15fs|NELL2_uc010skz.1_Intron|NELL2_uc010sla.1_Intron|NELL2_uc001roi.1_Intron|NELL2_uc010slb.1_Frame_Shift_Del_p.L15fs|NELL2_uc001roj.2_Intron	p.L15fs	NM_001145109	NP_001138581	WXS	Illumina GAIIx	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	0	147	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	0					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Frame_Shift_Del	DEL	ENST00000429094.2	37	c.44delT	CCDS8746.1																																																																																				0.557	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		6	13						6	13	---	---	---	---	-	45269298	A	-	45269298	6	5	219	0	1	1	0	1	0	0	0	0	10334	188	7	0		0	NELL2	12	45269298	Intron	DEL	A	TCGA-EL-A4K0-01A-11D-A257-08		45269298	88582597	7	3891											
GPC6	10082	broad.mit.edu	37	13	94482634	94482634	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr13:94482634A>C	ENST00000377047.4	+	3	1162	c.547A>C	c.(547-549)Agt>Cgt	p.S183R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	183					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTATCACTTCAGTGAAGACTA	0.493																																						uc001vlt.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(547-549)Agt>Cgt		Homo sapiens glypican 6 (GPC6), mRNA.							100	96	98					13																	94482634		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482634A>C	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.547A>C	13.37:g.94482634A>C	ENSP00000366246:p.Ser183Arg		Somatic				GPC6_uc010tig.1_Missense_Mutation_p.S183R|GPC6_uc001vlu.1_Missense_Mutation_p.S113R	p.S183R	NM_005708	NP_005699	WXS	Illumina GAIIx	Phase_I	Q9Y625	GPC6_HUMAN			2	1179	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	183					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.547A>C	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047041	0.75846	.	.	ENSG00000183098	ENST00000377047	T	0.53640	0.61	5.53	5.53	0.82687	.	0.056923	0.64402	D	0.000002	T	0.61311	0.2337	M	0.74647	2.275	0.41118	D	0.985792	P;P	0.52463	0.953;0.592	P;P	0.57620	0.752;0.824	T	0.64939	-0.6289	10	0.52906	T	0.07	.	9.8801	0.41227	0.7376:0.0:0.0:0.2624	.	183;183	B4E2M1;Q9Y625	.;GPC6_HUMAN	R	183	ENSP00000366246:S183R	ENSP00000366246:S183R	S	+	1	0	GPC6	93280635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.562000	0.60816	2.240000	0.73641	0.528000	0.53228	AGT		0.493	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		6	45	0	0	0	1	0	6	45					C	94482634	A	C	94482634	3	2	219	1	0	0	0	0	1	0	0	0	6602	188	7	5	557	5	GPC6	13	94482634	Missense_Mutation	SNP	A	TCGA-EL-A4K0-01A-11D-A257-08		94482634	20687244	8	3892											
BCKDK	10295	broad.mit.edu	37	16	31122082	31122082	+	Splice_Site	SNP	G	G	T			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chr16:31122082G>T	ENST00000394951.1	+	9	1339	c.716G>T	c.(715-717)aGa>aTa	p.R239I	BCKDK_ENST00000394950.3_Splice_Site_p.R239I|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Splice_Site_p.R239I|BCKDK_ENST00000219794.6_Splice_Site_p.R239I			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	239	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GACTTTGCCAGGTGAGGCAAG	0.577																																						uc002eaw.4																			0				breast(1)|stomach(1)	2						c.e8+1		Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							85	87	86					16																	31122082		2197	4300	6497	SO:0001630	splice_region_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122082G>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.716+1G>T	16.37:g.31122082G>T			Somatic				BCKDK_uc002eav.4_Splice_Site_p.R239_splice|BCKDK_uc010cai.3_Splice_Site_p.R239_splice	p.R239_splice	NM_005881	NP_005872	WXS	Illumina GAIIx	Phase_I	O14874	BCKD_HUMAN			8	1032	+			239			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Splice_Site	SNP	ENST00000394951.1	37	c.716_splice	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812349	0.90707	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.58	4.58	0.56647	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.87180	2.865	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.61940	0.896;0.758	D	0.90330	0.4351	10	0.66056	D	0.02	-5.6488	16.6791	0.85287	0.0:0.0:1.0:0.0	.	239;239	Q96G95;O14874	.;BCKD_HUMAN	I	239	ENSP00000378405:R239I;ENSP00000219794:R239I;ENSP00000378404:R239I;ENSP00000287507:R239I	ENSP00000219794:R239I	R	+	2	0	BCKDK	31029583	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.283000	0.89909	2.536000	0.85505	0.563000	0.77884	AGA		0.577	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	Missense_Mutation	40	57	0	0	0	1	0	40	57					T	31122082	G	T	31122082	5	4	219	1	0	0	0	0	0	0	1	0	1361	1014	35	4	742	4	BCKDK	16	31122082	Splice_Site	SNP	G	TCGA-EL-A4K0-01A-11D-A257-08		31122082	59232671	9	3893											
SSX1	6756	broad.mit.edu	37	X	48118021	48118021	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K0-01A-11D-A257-08	TCGA-EL-A4K0-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220d117b-cc76-4c53-8f51-5eee3409a703	939a3085-5656-44fb-a757-67e40ab49b32	g.chrX:48118021T>A	ENST00000376919.3	+	4	371	c.235T>A	c.(235-237)Ttc>Atc	p.F79I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	79	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGCCACAGACTTCCAGGGGAA	0.453			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1				Dom	yes		X	Xp11.23-p11.22	6756	T	"synovial sarcoma, X breakpoint 1"			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(235-237)Ttc>Atc		Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.							172	159	164					X																	48118021		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48118021T>A	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.235T>A	X.37:g.48118021T>A	ENSP00000366118:p.Phe79Ile		Somatic					p.F79I	NM_005635	NP_005626	WXS	Illumina GAIIx	Phase_I	Q16384	SSX1_HUMAN			3	326	+			79			KRAB-related.		A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.235T>A	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	6.249	0.414123	0.11870	.	.	ENSG00000126752	ENST00000376919	T	0.06371	3.31	2.11	0.92	0.19397	Krueppel-associated box (1);Krueppel-associated box-related (1);	0.830876	0.10413	N	0.677726	T	0.06188	0.0160	L	0.57536	1.79	0.09310	N	1	B	0.29909	0.261	B	0.26969	0.075	T	0.41662	-0.9496	10	0.23302	T	0.38	.	3.4777	0.07590	0.0:0.2181:0.0:0.7819	.	79	Q16384	SSX1_HUMAN	I	79	ENSP00000366118:F79I	ENSP00000366118:F79I	F	+	1	0	SSX1	48002965	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.245000	0.08890	0.177000	0.19895	0.305000	0.20034	TTC		0.453	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		62	94	0	0	0	1	0	62	94					A	48118021	T	A	48118021	3	1	219	1	0	0	0	0	1	0	0	0	15202	1609	56	5	245	5	SSX1	23	48118021	Missense_Mutation	SNP	T	TCGA-EL-A4K0-01A-11D-A257-08		48118021	107152539	10	3894											
KIAA1751	85452	broad.mit.edu	37	1	1887133	1887133	+	IGR	SNP	C	C	T			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:1887133C>T								TMEM52 (36421 upstream) : C1orf222 (32429 downstream)																							GGCTCACCTGCGGGCTGCTCC	0.692																																						uc009vkz.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(2173-2175)Gca>Aca		Homo sapiens KIAA1751 (KIAA1751), mRNA.							44	48	47					1																	1887133		2070	4204	6274	SO:0001628	intergenic_variant	85452							g.chr1:1887133C>T																													1.37:g.1887133C>T			Somatic				KIAA1751_uc001aim.1_Missense_Mutation_p.A725T	p.A725T	NM_001080484	NP_001073953	WXS	Illumina GAIIx	Phase_I	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	16	2192	-	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;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	725						Missense_Mutation	SNP		37	c.2173G>A		.	.	.	.	.	.	.	.	.	.	C	1.171	-0.640825	0.03557	.	.	ENSG00000142609	ENST00000493964;ENST00000270720	T	0.23754	1.89	2.63	-5.25	0.02781	.	2.768130	0.02179	N	0.060347	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24905	-1.0147	10	0.12103	T	0.63	0.0441	6.5539	0.22450	0.1251:0.2891:0.0:0.5858	.	725;725	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	T	8;725	ENSP00000417061:A8T	ENSP00000270720:A725T	A	-	1	0	C1orf222	1876993	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.311000	0.02723	-2.581000	0.00462	-1.119000	0.02030	GCA	0	0.692									13	26	0	0	0	1	0	13	26					T	1887133	C	T	1887133	1	4	220	0	1	0	0	0	0	0	0	0	8256	768	27	1		1	KIAA1751	1	1887133	IGR	SNP	C	TCGA-EL-A4K2-01A-11D-A257-08		1887133	247363488	1	3895											
DNAJC11	55735	broad.mit.edu	37	1	6696243	6696243	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:6696243G>C	ENST00000377577.5	-	15	1711	c.1588C>G	c.(1588-1590)Cag>Gag	p.Q530E	DNAJC11_ENST00000542246.1_Missense_Mutation_p.Q492E|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Q440E|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Q478E|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	530						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGAACTGATAGAGCACT	0.542																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1588-1590)Cag>Gag		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							89	77	81					1																	6696243		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696243G>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1588C>G	1.37:g.6696243G>C	ENSP00000366800:p.Gln530Glu		Somatic				DNAJC11_uc001aog.2_Missense_Mutation_p.Q478E|DNAJC11_uc010nzu.1_Missense_Mutation_p.Q440E	p.Q530E	NM_018198	NP_060668	WXS	Illumina GAIIx	Phase_I	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1694	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	530					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1588C>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402738	0.25291	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.21361	2.59;2.62;2.33;2.01	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	L	0.31664	0.95	0.58432	D	0.999999	B;B;B	0.14438	0.01;0.007;0.009	B;B;B	0.17433	0.014;0.018;0.013	T	0.06058	-1.0848	10	0.02654	T	1	-28.1203	18.4484	0.90695	0.0:0.0:1.0:0.0	.	440;478;530	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	E	530;478;492;440	ENSP00000366800:Q530E;ENSP00000294401:Q478E;ENSP00000444020:Q492E;ENSP00000366796:Q440E	ENSP00000294401:Q478E	Q	-	1	0	DNAJC11	6618830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.590000	0.87494	0.655000	0.94253	CAG		0.542	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		17	35	0	0	0	1	0	17	35					C	6696243	G	C	6696243	3	2	220	1	0	0	0	0	1	0	0	0	4630	1299	45	4	99	4	DNAJC11	1	6696243	Missense_Mutation	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08	4809110	6696243	242554378	2	3896											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		67	103	0	0	0	1	0	67	103					C	115256529	T	C	115256529	3	2	220	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08	108560286	115256529	133994092	3	3897											
PDE4D	5144	broad.mit.edu	37	5	58511659	58511659	+	Silent	SNP	G	G	A	rs372078770		TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr5:58511659G>A	ENST00000340635.6	-	2	766	c.591C>T	c.(589-591)agC>agT	p.S197S	PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Silent_p.S133S|PDE4D_ENST00000503258.1_Silent_p.S67S|PDE4D_ENST00000405755.2_Silent_p.S75S|PDE4D_ENST00000502484.2_Silent_p.S136S|PDE4D_ENST00000360047.5_Silent_p.S61S|PDE4D_ENST00000546160.1_Silent_p.S136S|PDE4D_ENST00000502575.1_Silent_p.S133S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	197					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)	GGTCATAATCGCTGTCGGATC	0.493																																						uc003jsa.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(589-591)agC>agT		Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	G	,,,,,	1,3791		0,1,1895	115	112	113		591,408,399,225,201,183	1.7	1.0	5		113	2,8248		0,2,4123	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4D	NM_001104631.1,NM_001165899.1,NM_001197218.1,NM_001197219.1,NM_001197220.1,NM_006203.4	,,,,,	0,3,6018	AA,AG,GG		0.0242,0.0264,0.0249	,,,,,	197/810,136/749,133/746,75/688,67/680,61/674	58511659	3,12039	1896	4125	6021	SO:0001819	synonymous_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58511659G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.591C>T	5.37:g.58511659G>A			Somatic				PDE4D_uc003jrx.2_Silent_p.S61S|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Silent_p.S133S|PDE4D_uc003jsb.3_Silent_p.S136S|PDE4D_uc003jsc.3_Silent_p.S133S|PDE4D_uc003jrv.2_Silent_p.S67S|PDE4D_uc003jrw.2_Silent_p.S75S|PDE4D_uc010iwi.1_Silent_p.S29S	p.S197S	NM_001104631	NP_001098101	WXS	Illumina GAIIx	Phase_I	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)	1	763	-		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)	197					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000340635.6	37	c.591C>T	CCDS47213.1																																																																																				0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			4	52	0	0	0	1	0	4	52					A	58511659	G	A	58511659	2	1	220	1	0	0	0	0	0	0	0	1	11642	1078	38	1		1	PDE4D	5	58511659	Silent	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		58511659	122403601	4	3898											
C6orf142	90523	broad.mit.edu	37	6	53986246	53986246	+	Splice_Site	SNP	T	T	C			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr6:53986246T>C	ENST00000274897.5	+	2	178	c.65T>C	c.(64-66)gTc>gCc	p.V22A	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Splice_Site_p.V16A|MLIP_ENST00000514921.1_Splice_Site_p.V22A|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Splice_Site_p.V33A|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	22	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GTCTCATAGGTCTCTGCTGGT	0.393																																						uc011dxa.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.e2-1		Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.							123	120	121					6																	53986246		2203	4300	6503	SO:0001630	splice_region_variant	90523					PML body|nuclear envelope	protein binding	g.chr6:53986246T>C	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.64-1T>C	6.37:g.53986246T>C			Somatic				MLIP_uc003pcf.2_Splice_Site_p.V22_splice|MLIP_uc003pcg.4_Splice_Site_p.V22_splice|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	p.V33_splice	NM_138569	NP_612636	WXS	Illumina GAIIx	Phase_I	Q5VWP3	MLIP_HUMAN			2	130	+			22			Interaction with LMNA.		B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site	SNP	ENST00000274897.5	37	c.97_splice	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991467	0.74703	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396;ENST00000358276;ENST00000514433	T;T;T;T;T	0.43294	1.71;1.27;1.3;0.95;1.36	5.13	5.13	0.70059	.	0.099482	0.41001	D	0.000964	T	0.48642	0.1511	M	0.64997	1.995	0.29359	N	0.86482	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.80764	0.994;0.986;0.994	T	0.50101	-0.8867	10	0.72032	D	0.01	0.0025	11.5986	0.50988	0.0:0.0:0.0:1.0	.	33;22;22	Q5VWP3-3;Q5VWP3;D6RE05	.;MLIP_HUMAN;.	A	22;22;33;16;23	ENSP00000274897:V22A;ENSP00000425142:V22A;ENSP00000426290:V33A;ENSP00000351019:V16A;ENSP00000421444:V23A	ENSP00000274897:V22A	V	+	2	0	MLIP	54094205	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.309000	0.59135	2.062000	0.61559	0.482000	0.46254	GTC		0.393	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Missense_Mutation	20	41	0	0	0	1	0	20	41					C	53986246	T	C	53986246	5	2	220	1	0	0	0	0	0	0	1	0	2333	1681	58	3	71	3	C6orf142	6	53986246	Splice_Site	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08		53986246	117128821	5	3899											
ZNF703	80139	broad.mit.edu	37	8	37555481	37555481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr8:37555481delG	ENST00000331569.4	+	2	1291	c.1062delG	c.(1060-1062)ccgfs	p.P354fs		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	354	Gly-rich.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCTGCCGCCGGGCAAGCCCC	0.711																																						uc003xjy.1																		FGFR1/ZNF703(2)	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7						c.(1060-1062)ccgfs		Homo sapiens zinc finger protein 703 (ZNF703), mRNA.							6	7	7					8																	37555481		2041	4128	6169	SO:0001589	frameshift_variant	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37555481delG	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1062delG	8.37:g.37555481delG	ENSP00000332325:p.Pro354fs		Somatic					p.P354fs	NM_025069	NP_079345	WXS	Illumina GAIIx	Phase_I	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		1	1259	+			354			Gly-rich.		Q5XG76	Frame_Shift_Del	DEL	ENST00000331569.4	37	c.1062delG	CCDS6094.1																																																																																				0.711	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		2	4						2	4	---	---	---	---	-	37555481	G	-	37555481	7	5	220	1	0	1	0	1	0	0	0	0	18103	1103	39	0	1068	0	ZNF703	8	37555481	Frame_Shift_Del	DEL	G	TCGA-EL-A4K2-01A-11D-A257-08		37555481	108808541	6	3900											
USP5	8078	broad.mit.edu	37	12	6964920	6964920	+	Splice_Site	SNP	A	A	G			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:6964920A>G	ENST00000229268.8	+	3	291	c.239A>G	c.(238-240)aAa>aGa	p.K80R	USP5_ENST00000389231.5_Splice_Site_p.K80R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	80					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TCTTTACAGAAAGAGGAGGAC	0.577																																						uc001qri.4																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.e3-1		Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.							63	68	66					12																	6964920		2203	4300	6503	SO:0001630	splice_region_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6964920A>G	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.238-1A>G	12.37:g.6964920A>G			Somatic				USP5_uc001qrh.4_Splice_Site_p.K80_splice	p.K80_splice	NM_001098536	NP_001092006	WXS	Illumina GAIIx	Phase_I	P45974	UBP5_HUMAN			3	297	+			80					D3DUS7|D3DUS8|Q96J22	Splice_Site	SNP	ENST00000229268.8	37	c.238_splice	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484239	0.44147	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.26223	1.75;1.77	5.67	3.28	0.37604	.	0.199060	0.52532	N	0.000078	T	0.38983	0.1061	M	0.61703	1.905	0.80722	D	1	B;D	0.55800	0.005;0.973	B;P	0.58928	0.012;0.848	T	0.05419	-1.0886	10	0.30078	T	0.28	-0.5668	10.0412	0.42160	0.8631:0.0:0.1369:0.0	.	80;80	P45974;P45974-2	UBP5_HUMAN;.	R	80	ENSP00000229268:K80R;ENSP00000373883:K80R	ENSP00000229268:K80R	K	+	2	0	USP5	6835181	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.959000	0.70339	0.418000	0.25898	0.533000	0.62120	AAA		0.577	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1		Missense_Mutation	37	48	0	0	0	1	0	37	48					G	6964920	A	G	6964920	5	3	220	1	0	0	0	0	0	0	1	0	17078	28	1	3	249	3	USP5	12	6964920	Splice_Site	SNP	A	TCGA-EL-A4K2-01A-11D-A257-08		6964920	126886975	7	3901											
UBC	7316	broad.mit.edu	37	12	125397369	125397369	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr12:125397369T>C	ENST00000536769.1	-	1	2525	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.I241V|UBC_ENST00000339647.5_Missense_Mutation_p.I317V|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	317	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCGAGAGTGATGGTCTTACCA	0.522																																						uc001ugs.4																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(949-951)Atc>Gtc		Homo sapiens ubiquitin C (UBC), mRNA.							90	76	80					12																	125397369		2202	4286	6488	SO:0001583	missense	7316				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397369T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.949A>G	12.37:g.125397369T>C	ENSP00000441543:p.Ile317Val		Somatic				UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.I317V|UBC_uc001ugu.1_Missense_Mutation_p.I317V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.I317V|UBC_uc001ugw.3_Missense_Mutation_p.I165V	p.I317V	NM_021009	NP_066289	WXS	Illumina GAIIx	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1407	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		317			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.949A>G	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.431067	0.25726	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	2.94	2.94	0.34122	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.46442	U	0.000291	T	0.74884	0.3775	M	0.72894	2.215	0.58432	D	0.999999	B;B;B	0.19583	0.016;0.037;0.016	B;B;B	0.36030	0.085;0.216;0.085	T	0.75051	-0.3454	10	0.59425	D	0.04	.	9.4283	0.38595	0.0:0.0:0.0:1.0	.	406;317;317	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	317;317;241;317;241	ENSP00000441543:I317V;ENSP00000344818:I317V;ENSP00000438394:I241V	ENSP00000344818:I317V	I	-	1	0	UBC	123963322	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	6.551000	0.73909	1.382000	0.46385	0.449000	0.29647	ATC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		40	116	0	0	0	1	0	40	116					C	125397369	T	C	125397369	3	2	220	1	0	0	0	0	1	0	0	0	16839	1464	51	3	1112	3	UBC	12	125397369	Missense_Mutation	SNP	T	TCGA-EL-A4K2-01A-11D-A257-08	118432449	125397369	8454526	8	3902											
TBC1D2B	23102	broad.mit.edu	37	15	78305349	78305349	+	Silent	SNP	G	G	A			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr15:78305349G>A	ENST00000300584.3	-	9	2085	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	TBC1D2B_ENST00000409931.3_Silent_p.L696L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	696	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GCCTTCTGCAGCAAGGTCTGG	0.562																																						uc002bcy.4																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2086-2088)Ctg>Ttg		Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.							119	89	99					15																	78305349		2196	4293	6489	SO:0001819	synonymous_variant	23102					intracellular	Rab GTPase activator activity|protein binding	g.chr15:78305349G>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2086C>T	15.37:g.78305349G>A			Somatic				TBC1D2B_uc010bla.3_Silent_p.L696L|TBC1D2B_uc002bda.3_Silent_p.L148L	p.L696L	NM_144572	NP_653173	WXS	Illumina GAIIx	Phase_I	Q9UPU7	TBD2B_HUMAN			8	2086	-			696			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.2086C>T	CCDS45314.1																																																																																				0.562	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	20	0	0	0	1	0	3	20					A	78305349	G	A	78305349	2	1	220	1	0	0	0	0	0	0	0	1	15616	962	34	2		2	TBC1D2B	15	78305349	Silent	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		78305349	24226043	9	3903											
DNAH9	1770	broad.mit.edu	37	17	11827171	11827171	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr17:11827171C>A	ENST00000262442.4	+	62	11858	c.11790C>A	c.(11788-11790)caC>caA	p.H3930Q	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.H242Q|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3930Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3930	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAACTTTCACAACGTGTCTT	0.453																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11788-11790)caC>caA		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							154	126	135					17																	11827171		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11827171C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11790C>A	17.37:g.11827171C>A	ENSP00000262442:p.His3930Gln		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.H3224Q|DNAH9_uc002gnf.3_Missense_Mutation_p.H242Q|DNAH9_uc010vvh.1_Missense_Mutation_p.H283Q	p.H3930Q	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	61	11858	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3930			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11790C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583659	0.65992	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.08370	3.1;3.1;3.1	4.98	3.94	0.45596	Dynein heavy chain (1);	0.045058	0.85682	D	0.000000	T	0.23410	0.0566	M	0.68317	2.08	0.54753	D	0.999981	P;D	0.69078	0.489;0.997	B;D	0.76575	0.385;0.988	T	0.00113	-1.2042	10	0.59425	D	0.04	.	10.2321	0.43260	0.0:0.8379:0.0:0.1621	.	283;3930	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	Q	3930;3930;2512;242;283	ENSP00000262442:H3930Q;ENSP00000414874:H3930Q;ENSP00000379323:H242Q	ENSP00000262442:H3930Q	H	+	3	2	DNAH9	11767896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.419000	0.34793	2.588000	0.87417	0.561000	0.74099	CAC		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	61	0	0	0	1	0	6	61					A	11827171	C	A	11827171	3	1	220	1	0	0	0	0	1	0	0	0	4608	477	17	4	12036	4	DNAH9	17	11827171	Missense_Mutation	SNP	C	TCGA-EL-A4K2-01A-11D-A257-08		11827171	69368039	10	3904											
CHEK2	11200	broad.mit.edu	37	22	29090097	29090097	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4K2-01A-11D-A257-08	TCGA-EL-A4K2-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba57094e-ee91-4235-9cfb-88659af9a99e	406c2a3b-2a90-403c-b247-e484b0b313e3	g.chr22:29090097G>T	ENST00000405598.1	-	14	1575	c.1384C>A	c.(1384-1386)Ctt>Att	p.L462I	CHEK2_ENST00000382578.1_Missense_Mutation_p.L371I|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.L433I|CHEK2_ENST00000544772.1_Missense_Mutation_p.L241I|CHEK2_ENST00000404276.1_Missense_Mutation_p.L462I|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.L371I|CHEK2_ENST00000382580.2_Missense_Mutation_p.L505I|CHEK2_ENST00000328354.6_Missense_Mutation_p.L462I|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.L433I			O96017	CHK2_HUMAN	checkpoint kinase 2	462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTTGACAAGGTCCAGAGCT	0.448			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adt.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1513-1515)Ctt>Att	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.							158	179	171					22																	29090097		1387	2363	3750	SO:0001583	missense	11200				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29090097G>T	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1384C>A	22.37:g.29090097G>T	ENSP00000386087:p.Leu462Ile		Somatic				CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.L241I|CHEK2_uc010gvh.1_Missense_Mutation_p.L371I|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adu.1_Missense_Mutation_p.L462I|CHEK2_uc003adv.1_Missense_Mutation_p.L433I|CHEK2_uc003adx.1_Missense_Mutation_p.L241I	p.L505I	NM_001005735	NP_001005735	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			13	1585	-			462					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1513C>A	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.356237	0.82243	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	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	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071902	0.56097	D	0.000034	T	0.80507	0.4636	L	0.45470	1.425	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.992;0.988;0.992;0.996;0.994	D;D;D;P;D;D	0.71184	0.959;0.954;0.945;0.858;0.972;0.953	T	0.81765	-0.0783	10	0.72032	D	0.01	-14.9198	18.3006	0.90162	0.0:0.0:1.0:0.0	.	371;241;462;433;462;505	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	I	433;371;145;241;462;462;462;505;371;433	ENSP00000329012:L433I;ENSP00000372021:L371I;ENSP00000442458:L241I;ENSP00000329178:L462I;ENSP00000385747:L462I;ENSP00000386087:L462I;ENSP00000372023:L505I;ENSP00000384919:L371I;ENSP00000384835:L433I	ENSP00000329178:L462I	L	-	1	0	CHEK2	27420097	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.963000	0.56773	2.578000	0.87016	0.555000	0.69702	CTT		0.448	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	127	0	0	0	1	0	6	127					T	29090097	G	T	29090097	3	4	220	1	0	0	0	0	1	0	0	0	3335	1000	35	4	259	4	CHEK2	22	29090097	Missense_Mutation	SNP	G	TCGA-EL-A4K2-01A-11D-A257-08		29090097	22214469	11	3905											
BSN	8927	broad.mit.edu	37	3	49689975	49689975	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:49689975C>T	ENST00000296452.4	+	5	3100	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	996					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCACCTCTCCCACCTCTCT	0.647																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(2986-2988)Ccc>Tcc		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							40	36	37					3																	49689975		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689975C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2986C>T	3.37:g.49689975C>T	ENSP00000296452:p.Pro996Ser		Somatic					p.P996S	NM_003458	NP_003449	WXS	Illumina GAIIx	Phase_I	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	3100	+			996					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2986C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039829	0.55003	.	.	ENSG00000164061	ENST00000296452	T	0.39787	1.06	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	M	0.77313	2.365	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.69957	-0.5004	10	0.54805	T	0.06	.	18.2681	0.90059	0.0:1.0:0.0:0.0	.	996	Q9UPA5	BSN_HUMAN	S	996	ENSP00000296452:P996S	ENSP00000296452:P996S	P	+	1	0	BSN	49664979	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	7.798000	0.85924	2.413000	0.81919	0.561000	0.74099	CCC		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		15	23	0	0	0	1	0	15	23					T	49689975	C	T	49689975	3	4	221	1	0	0	0	0	1	0	0	0	1530	855	30	2	3004	2	BSN	3	49689975	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		49689975	148332455	1	3906											
COL6A6	131873	broad.mit.edu	37	3	130284243	130284243	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr3:130284243G>A	ENST00000358511.6	+	3	1098	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R356Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	356	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTTAACCTCCGACGGGAGGGT	0.567																																						uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1066-1068)cGa>cAa		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							158	168	164					3																	130284243		2012	4183	6195	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284243G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1067G>A	3.37:g.130284243G>A	ENSP00000351310:p.Arg356Gln		Somatic					p.R356Q	NM_001102608	NP_001096078	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			2	1098	+			356			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1067G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921984	0.73213	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80824	-1.42;-1.42	5.01	5.01	0.66863	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000045	D	0.87386	0.6164	M	0.71920	2.185	0.32172	N	0.581533	D	0.89917	1.0	D	0.68765	0.96	D	0.87618	0.2508	10	0.33141	T	0.24	.	14.0723	0.64868	0.0:0.0:0.8487:0.1513	.	356	A6NMZ7	CO6A6_HUMAN	Q	356	ENSP00000351310:R356Q;ENSP00000399236:R356Q	ENSP00000351310:R356Q	R	+	2	0	COL6A6	131766933	0.998000	0.40836	1.000000	0.80357	0.727000	0.41649	4.233000	0.58651	2.492000	0.84095	0.561000	0.74099	CGA		0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		56	66	0	0	0	1	0	56	66					A	130284243	G	A	130284243	3	1	221	1	0	0	0	0	1	0	0	0	3703	1058	37	1	1077	1	COL6A6	3	130284243	Missense_Mutation	SNP	G	TCGA-EL-A4K4-01A-11D-A257-08	80594268	130284243	67738187	2	3907											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	39	0	0	0	1	0	14	39					T	140453136	A	T	140453136	3	4	221	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		140453136	18685527	3	3908											
ADO	84890	broad.mit.edu	37	10	64565221	64565221	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr10:64565221C>A	ENST00000373783.1	+	1	706	c.402C>A	c.(400-402)gaC>gaA	p.D134E	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	134						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCTGCATGGACAAGCTAGACG	0.716																																						uc001jmg.3																			0				lung(2)	2						c.(400-402)gaC>gaA		Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.							6	5	5					10																	64565221		1983	3894	5877	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565221C>A	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.402C>A	10.37:g.64565221C>A	ENSP00000362888:p.Asp134Glu		Somatic					p.D134E	NM_032804	NP_116193	WXS	Illumina GAIIx	Phase_I	Q96SZ5	AEDO_HUMAN			0	706	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		134					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.402C>A	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759305	0.89932	.	.	ENSG00000181915	ENST00000373783	T	0.55413	0.52	5.07	5.07	0.68467	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.109027	0.64402	D	0.000012	T	0.73265	0.3565	M	0.88979	2.995	0.53688	D	0.999971	D	0.56746	0.977	D	0.67382	0.951	T	0.76526	-0.2927	10	0.49607	T	0.09	-26.846	10.8793	0.46929	0.0:0.9115:0.0:0.0885	.	134	Q96SZ5	AEDO_HUMAN	E	134	ENSP00000362888:D134E	ENSP00000362888:D134E	D	+	3	2	ADO	64235227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.158000	0.50723	2.356000	0.79943	0.650000	0.86243	GAC		0.716	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		2	0	0	0	0	1	0	2	0					A	64565221	C	A	64565221	3	1	221	1	0	0	0	0	1	0	0	0	325	477	17	4	404	4	ADO	10	64565221	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		64565221	70969526	4	3909											
TRIM6	117854	broad.mit.edu	37	11	5624780	5624780	+	Missense_Mutation	SNP	C	C	T	rs61758093		TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr11:5624780C>T	ENST00000278302.5	+	2	378	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000506134.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.R80W|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R108W|TRIM6_ENST00000380097.3_Missense_Mutation_p.R108W|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	80					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CATAGTGAGGCGGCTCAGAGA	0.552																																						uc001mbf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(322-324)Cgg>Tgg		Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.		C	TRP/ARG,TRP/ARG,,,TRP/ARG	6,4396	11.4+/-27.6	0,6,2195	87	87	87		322,322,,,238	1.6	0.5	11	dbSNP_129	87	0,8594		0,0,4297	no	missense,missense,intron,intron,missense	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	101,101,,,101	0,6,6492	TT,TC,CC		0.0,0.1363,0.0462	probably-damaging,probably-damaging,,,probably-damaging	108/517,108/843,,,80/489	5624780	6,12990	2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5624780C>T	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.238C>T	11.37:g.5624780C>T	ENSP00000278302:p.Arg80Trp		Somatic				HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R80W|TRIM6-TRIM34_uc010qzj.2_Intron|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R80W|TRIM6-TRIM34_uc001mbe.3_Intron|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R108W|TRIM6-TRIM34_uc010qzk.2_Intron|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	p.R108W	NM_001003819	NP_067629	WXS	Illumina GAIIx	Phase_I	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	1	585	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	108					A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.322C>T	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977229	0.34848	0.001363	0.0	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000337072;ENST00000354852	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.04	1.6	0.23607	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	D	0.92453	0.7604	M	0.90082	3.085	0.21064	N	0.999794	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.982;0.999;0.998	T	0.83115	-0.0121	9	0.59425	D	0.04	.	9.5348	0.39216	0.6522:0.3478:0.0:0.0	rs61758093	80;108;108;80	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	W	80;80;108;108;108	ENSP00000278302:R80W;ENSP00000369450:R80W;ENSP00000369440:R108W;ENSP00000346916:R108W	ENSP00000278302:R80W	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5581356	0.001000	0.12720	0.536000	0.28039	0.451000	0.32288	0.636000	0.24644	0.325000	0.23359	-0.266000	0.10368	CGG		0.552	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		10	43	0	0	0	1	0	10	43					T	5624780	C	T	5624780	3	4	221	1	0	0	0	0	1	0	0	0	16530	759	27	1	328	1	TRIM6	11	5624780	Missense_Mutation	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08		5624780	129381736	5	3910											
NCOR2	9612	broad.mit.edu	37	12	124827559	124827559	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr12:124827559A>T	ENST00000405201.1	-	33	4928	c.4928T>A	c.(4927-4929)cTg>cAg	p.L1643Q	NCOR2_ENST00000397355.1_Missense_Mutation_p.L1634Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1633Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1204Q|NCOR2_ENST00000429285.2_Missense_Mutation_p.L1633Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.L1650Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1651					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCTGCGTCCAGAGGGATGCC	0.637																																						uc021rga.1																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4948-4950)cTg>cAg		Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.							27	31	30					12																	124827559		2038	4180	6218	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124827559A>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4928T>A	12.37:g.124827559A>T	ENSP00000384018:p.Leu1643Gln		Somatic				NCOR2_uc021rgb.1_Missense_Mutation_p.L1634Q|NCOR2_uc010tbb.2_Missense_Mutation_p.L1643Q|NCOR2_uc010tbc.2_Missense_Mutation_p.L1633Q|NCOR2_uc021rgc.1_Missense_Mutation_p.L1633Q|NCOR2_uc010tba.2_Missense_Mutation_p.L1651Q|NCOR2_uc010tax.2_5'Flank	p.L1650Q	NM_006312	NP_006303	WXS	Illumina GAIIx	Phase_I	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	32	5066	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1651					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.4949T>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231792	0.58777	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.14	5.14	0.70334	.	0.258733	0.33364	N	0.004985	T	0.75554	0.3865	M	0.74258	2.255	0.45330	D	0.998327	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.79279	-0.1869	10	0.87932	D	0	-24.2164	14.942	0.71000	1.0:0.0:0.0:0.0	.	1633;1634;1643	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	1643;1633;1650;1634;1642;1204;1633	ENSP00000384018:L1643Q;ENSP00000384202:L1633Q;ENSP00000348551:L1650Q;ENSP00000380513:L1634Q;ENSP00000385618:L1204Q;ENSP00000400281:L1633Q	ENSP00000348551:L1650Q	L	-	2	0	NCOR2	123393512	1.000000	0.71417	0.949000	0.38748	0.832000	0.47134	8.415000	0.90241	1.920000	0.55613	0.459000	0.35465	CTG		0.637	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	22	0	0	0	1	0	3	22					T	124827559	A	T	124827559	3	4	221	1	0	0	0	0	1	0	0	0	10236	188	7	5	2676	5	NCOR2	12	124827559	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		124827559	9024336	6	3911											
LACTB	114294	broad.mit.edu	37	15	63414116	63414116	+	Frame_Shift_Del	DEL	G	G	-	rs34925488	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr15:63414116delG	ENST00000261893.4	+	1	118	c.46delG	c.(46-48)gggfs	p.G17fs	LACTB_ENST00000413507.2_Frame_Shift_Del_p.G17fs	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	17						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TGCCGCCCCCGGGGGCTTGGC	0.751																																					Melanoma(85;443 1381 6215 27308 35583)	uc002alw.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(46-48)gggfs		Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							4	5	5					15																	63414116		1367	2959	4326	SO:0001589	frameshift_variant	114294					mitochondrion	hydrolase activity	g.chr15:63414116delG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"Mitochondrial ribosomal proteins / large subunits"	16468	protein-coding gene	gene with protein product		608440	"mitochondrial ribosomal protein L56"	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.46delG	15.37:g.63414116delG	ENSP00000261893:p.Gly17fs		Somatic				LACTB_uc002alv.3_Frame_Shift_Del_p.G16fs	p.G16fs	NM_032857	NP_116246	WXS	Illumina GAIIx	Phase_I	P83111	LACTB_HUMAN			0	118	+			16					P83096	Frame_Shift_Del	DEL	ENST00000261893.4	37	c.46delG	CCDS10182.1																																																																																				0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		2	4						2	4	---	---	---	---	-	63414116	G	-	63414116	7	5	221	1	0	1	0	1	0	0	0	0	8597	1116	39	0	48	0	LACTB	15	63414116	Frame_Shift_Del	DEL	G	TCGA-EL-A4K4-01A-11D-A257-08		63414116	39117276	7	3912											
SEPX1	6123	broad.mit.edu	37	16	1993132	1993132	+	IGR	DEL	C	C	-			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr16:1993132delC	ENST00000268661.7	-	0	2182				MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000361871.3_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000564908.1_Frame_Shift_Del_p.G9fs|MSRB1_ENST00000399753.2_Frame_Shift_Del_p.G9fs	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						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)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAACCTCGCCCCCGAAGAA	0.697																																						uc021tam.1																			0											c.(25-27)ggcfs		Homo sapiens selenoprotein X, 1 (SEPX1), mRNA.	L-Methionine(DB00134)						13	17	16					16																	1993132		1934	4092	6026	SO:0001628	intergenic_variant	51734				protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding	g.chr16:1993132delC	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1993132delC			Somatic				TCRBV20S1_uc021tak.1_Intron	p.G9fs	NM_016332	NP_057416	WXS	Illumina GAIIx	Phase_I	Q9NZV6	MSRB1_HUMAN			0	163	-			9						Frame_Shift_Del	DEL	ENST00000268661.7	37	c.26delG	CCDS10450.1																																																																																				0.697	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		2	4						2	4	---	---	---	---	-	1993132	C	-	1993132	6	5	221	0	1	1	0	1	0	0	0	0	14073	739	26	0		0	SEPX1	16	1993132	IGR	DEL	C	TCGA-EL-A4K4-01A-11D-A257-08		1993132	88361621	8	3913											
OR10H2	26538	broad.mit.edu	37	19	15839218	15839218	+	Missense_Mutation	SNP	G	G	A	rs549916970	byFrequency	TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr19:15839218G>A	ENST00000305899.3	+	1	385	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCTACGACCGCTACGTGGCC	0.647																																						uc002nbm.2																			0		p.D121Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.							59	51	54					19																	15839218		2203	4298	6501	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839218G>A	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.365G>A	19.37:g.15839218G>A	ENSP00000306095:p.Arg122His		Somatic					p.R122H	NM_013939	NP_039227	WXS	Illumina GAIIx	Phase_I	O60403	O10H2_HUMAN			0	385	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		122					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.365G>A	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	17.55	3.418735	0.62622	.	.	ENSG00000171942	ENST00000305899	T	0.77489	-1.1	3.4	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000115	T	0.79257	0.4415	M	0.89785	3.06	0.39779	D	0.972277	P	0.35684	0.515	B	0.30572	0.117	D	0.83923	0.0302	10	0.87932	D	0	.	12.3469	0.55126	0.0:0.0:1.0:0.0	.	122	O60403	O10H2_HUMAN	H	122	ENSP00000306095:R122H	ENSP00000306095:R122H	R	+	2	0	OR10H2	15700218	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.970000	0.76099	1.446000	0.47643	0.537000	0.68136	CGC		0.647	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			24	40	0	0	0	1	0	24	40					A	15839218	G	A	15839218	3	1	221	1	0	0	0	0	1	0	0	0	10906	1087	38	1	367	1	OR10H2	19	15839218	Missense_Mutation	SNP	G	TCGA-EL-A4K4-01A-11D-A257-08		15839218	43289765	9	3914											
ITCH	83737	broad.mit.edu	37	20	33057876	33057876	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:33057876A>G	ENST00000262650.6	+	16	1707	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	ITCH_ENST00000535650.1_Missense_Mutation_p.Y373C|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.Y483C			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	524					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAGATAGCCTATGTTCGGGAC	0.408																																						uc010geu.1																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1570-1572)tAt>tGt		Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.							259	245	250					20																	33057876		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33057876A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1571A>G	20.37:g.33057876A>G	ENSP00000262650:p.Tyr524Cys		Somatic				ITCH_uc002xak.2_Missense_Mutation_p.Y483C|ITCH_uc010zuj.1_Missense_Mutation_p.Y373C	p.Y524C	NM_031483	NP_113671	WXS	Illumina GAIIx	Phase_I	Q96J02	ITCH_HUMAN			15	1763	+			524					A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1571A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725526	0.89298	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.37411	1.21;1.2;1.58	6.07	6.07	0.98685	.	0.114890	0.64402	D	0.000009	T	0.64000	0.2559	M	0.82193	2.58	0.80722	D	1	D;P;D	0.69078	0.997;0.936;0.997	D;B;P	0.70227	0.968;0.273;0.884	T	0.69139	-0.5224	10	0.87932	D	0	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	435;524;483	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	C	483;373;524	ENSP00000363998:Y483C;ENSP00000445608:Y373C;ENSP00000262650:Y524C	ENSP00000262650:Y524C	Y	+	2	0	ITCH	32521537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.958000	0.93099	2.326000	0.78906	0.533000	0.62120	TAT		0.408	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			49	103	0	0	0	1	0	49	103					G	33057876	A	G	33057876	3	3	221	1	0	0	0	0	1	0	0	0	7868	449	16	3	1498	3	ITCH	20	33057876	Missense_Mutation	SNP	A	TCGA-EL-A4K4-01A-11D-A257-08		33057876	29967644	10	3915											
EMILIN3	90187	broad.mit.edu	37	20	39991087	39991087	+	Silent	SNP	C	C	T			TCGA-EL-A4K4-01A-11D-A257-08	TCGA-EL-A4K4-11A-21D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23d4113a-f9a3-4581-a160-6074c4ef4dfe	4a0d57bd-9de2-4474-b547-f24b85e050d1	g.chr20:39991087C>T	ENST00000332312.3	-	4	1314	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	374						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CGCTCAGGCCCTGCAGCTGGC	0.672																																						uc002xjy.1																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1120-1122)caG>caA		Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.																																				SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39991087C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1122G>A	20.37:g.39991087C>T			Somatic					p.Q374Q	NM_052846	NP_443078	WXS	Illumina GAIIx	Phase_I	Q9NT22	EMIL3_HUMAN			3	1346	-		Myeloproliferative disorder(115;0.00425)	374					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1122G>A	CCDS13316.1																																																																																				0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		3	21	0	0	0	1	0	3	21					T	39991087	C	T	39991087	2	4	221	1	0	0	0	0	0	0	0	1	5095	680	24	2		2	EMILIN3	20	39991087	Silent	SNP	C	TCGA-EL-A4K4-01A-11D-A257-08	6933211	39991087	23034433	11	3916											
KIAA0754	643314	broad.mit.edu	37	1	39878974	39878974	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:39878974C>G	ENST00000530275.1	+	1	2824	c.2629C>G	c.(2629-2631)Ccc>Gcc	p.P877A	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	877	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			CCCAGAGGAGCCCACCTCCCC	0.687																																						uc009vvt.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(3037-3039)Ccc>Gcc		Homo sapiens KIAA0754 (KIAA0754), mRNA.							8	10	9					1																	39878974		1843	4036	5879	SO:0001583	missense	643314							g.chr1:39878974C>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2629C>G	1.37:g.39878974C>G	ENSP00000431179:p.Pro877Ala		Somatic				MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	p.P1013A	NM_015038	NP_055853	WXS	Illumina GAIIx	Phase_I	O94854	K0754_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)		0	3799	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	877			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3037C>G		.	.	.	.	.	.	.	.	.	.	C	9.146	1.015170	0.19355	.	.	ENSG00000255103	ENST00000530275	T	0.24723	1.84	4.2	-1.59	0.08453	.	.	.	.	.	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	1	B	0.28291	0.206	B	0.31101	0.124	T	0.31052	-0.9957	9	0.51188	T	0.08	.	1.7766	0.03023	0.1403:0.4618:0.1371:0.2608	.	877	O94854	K0754_HUMAN	A	877	ENSP00000431179:P877A	ENSP00000431179:P877A	P	+	1	0	RP4-562N20.1	39651561	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.318000	0.08050	-0.132000	0.11557	0.462000	0.41574	CCC		0.687	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	15	0	0	0	1	0	6	15					G	39878974	C	G	39878974	3	3	222	1	0	0	0	0	1	0	0	0	8192	739	26	4	3039	4	KIAA0754	1	39878974	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		39878974	209371647	1	3917											
MCOLN2	255231	broad.mit.edu	37	1	85405252	85405252	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:85405252A>G	ENST00000370608.3	-	9	1161	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.M337T	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	365			M -> V (in dbSNP:rs17117841).		calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTGATTTCCATTTTTAATAT	0.468																																						uc001dkm.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1093-1095)aTg>aCg		Homo sapiens mucolipin 2 (MCOLN2), mRNA.							93	90	91					1																	85405252		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85405252A>G	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1094T>C	1.37:g.85405252A>G	ENSP00000359640:p.Met365Thr		Somatic				MCOLN2_uc001dkn.3_Intron	p.M365T	NM_153259	NP_694991	WXS	Illumina GAIIx	Phase_I	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	8	1335	-			365		M -> V (in dbSNP:rs17117841).			A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.1094T>C	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646577	0.47258	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.83914	-1.78;-1.77	5.18	5.18	0.71444	.	0.202088	0.53938	D	0.000054	T	0.70798	0.3265	M	0.66939	2.045	0.58432	D	0.999994	P	0.44734	0.842	B	0.31946	0.138	T	0.77021	-0.2742	10	0.49607	T	0.09	-13.3809	15.036	0.71748	1.0:0.0:0.0:0.0	.	365	Q8IZK6	MCLN2_HUMAN	T	365;337	ENSP00000359640:M365T;ENSP00000284027:M337T	ENSP00000284027:M337T	M	-	2	0	MCOLN2	85177840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	1.955000	0.56771	0.460000	0.39030	ATG		0.468	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		5	96	0	0	0	1	0	5	96					G	85405252	A	G	85405252	3	3	222	1	0	0	0	0	1	0	0	0	9396	217	8	3	630	3	MCOLN2	1	85405252	Missense_Mutation	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08	45526278	85405252	163845369	2	3918											
RAP1A	5906	broad.mit.edu	37	1	112240072	112240072	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:112240072G>A	ENST00000369709.3	+	4	315	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	RAP1A_ENST00000436150.2_Missense_Mutation_p.V46I|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46I|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46I	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	46					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCAAGTTGAAGTCGATTGCCA	0.358																																						uc001ebi.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(136-138)Gtc>Atc		Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.							151	156	154					1																	112240072		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112240072G>A	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.136G>A	1.37:g.112240072G>A	ENSP00000358723:p.Val46Ile		Somatic				RAP1A_uc001ebk.3_Missense_Mutation_p.V46I|RAP1A_uc001ebl.3_Missense_Mutation_p.V46I	p.V46I	NM_002884	NP_002875	WXS	Illumina GAIIx	Phase_I	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	3	240	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	46					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.136G>A	CCDS840.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834554	0.50951	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.060932	0.64402	D	0.000004	T	0.38852	0.1056	N	0.20881	0.62	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.47522	-0.9111	10	0.02654	T	1	.	18.999	0.92826	0.0:0.0:1.0:0.0	.	46	P62834	RAP1A_HUMAN	I	46	ENSP00000348786:V46I;ENSP00000396741:V46I;ENSP00000358723:V46I;ENSP00000394318:V46I;ENSP00000443009:V46I	ENSP00000348786:V46I	V	+	1	0	RAP1A	112041595	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.652000	0.90054	0.650000	0.86243	GTC		0.358	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		30	32	0	0	0	1	0	30	32					A	112240072	G	A	112240072	3	1	222	1	0	0	0	0	1	0	0	0	13035	1029	36	2	146	2	RAP1A	1	112240072	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	26834820	112240072	137010549	3	3919											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		84	106	0	0	0	1	0	84	106					T	115256530	G	T	115256530	3	4	222	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	3016458	115256530	133994091	4	3920											
FCRL2	79368	broad.mit.edu	37	1	157739926	157739926	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr1:157739926G>A	ENST00000361516.3	-	4	373	c.325C>T	c.(325-327)Cct>Tct	p.P109S	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Missense_Mutation_p.P109S|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	109	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCAGCACAGGACGTTGAAAG	0.532																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(325-327)Cct>Tct		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							43	43	43					1																	157739926		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity	g.chr1:157739926G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.325C>T	1.37:g.157739926G>A	ENSP00000355157:p.Pro109Ser		Somatic				FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.P109S|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.P109S	p.P109S	NM_030764	NP_110391	WXS	Illumina GAIIx	Phase_I	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	384	-	all_hematologic(112;0.0378)		109			Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.325C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906855	0.52333	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.26957	1.7;1.7	4.09	3.16	0.36331	Immunoglobulin-like (1);	0.000000	0.34828	U	0.003650	T	0.43612	0.1255	M	0.92367	3.3	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.98;0.997;0.996	T	0.36768	-0.9734	10	0.56958	D	0.05	.	9.2901	0.37782	0.0:0.0:0.7855:0.2145	.	109;109;109	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	S	109	ENSP00000355157:P109S;ENSP00000376100:P109S	ENSP00000355157:P109S	P	-	1	0	FCRL2	156006550	0.844000	0.29557	0.005000	0.12908	0.196000	0.23810	2.768000	0.47645	1.047000	0.40274	0.591000	0.81541	CCT		0.532	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		25	23	0	0	0	1	0	25	23					A	157739926	G	A	157739926	3	1	222	1	0	0	0	0	1	0	0	0	5795	1174	41	2	1237	2	FCRL2	1	157739926	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	42483396	157739926	91510695	5	3921											
FBXO11	80204	broad.mit.edu	37	2	48066036	48066036	+	Silent	SNP	A	A	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:48066036A>G	ENST00000403359.3	-	4	621	c.549T>C	c.(547-549)tgT>tgC	p.C183C	FBXO11_ENST00000378314.3_Silent_p.C65C|FBXO11_ENST00000316377.4_Silent_p.C99C|FBXO11_ENST00000402508.1_Silent_p.C99C|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	183	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAGCGTTTACATACACAAG	0.368			"Mis, F, D"		DLBCL																																	uc002rwe.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(547-549)tgT>tgC		Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.							114	105	108					2																	48066036		2203	4300	6503	SO:0001819	synonymous_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066036A>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.549T>C	2.37:g.48066036A>G			Somatic				FBXO11_uc010fbl.3_Silent_p.C99C|FBXO11_uc002rwg.2_Silent_p.C183C|FBXO11_uc021vhe.1_5'Flank	p.C183C	NM_001190274	NP_001177203	WXS	Illumina GAIIx	Phase_I	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	622	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	183			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	c.549T>C	CCDS54357.1																																																																																				0.368	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		28	27	0	0	0	1	0	28	27					G	48066036	A	G	48066036	2	3	222	1	0	0	0	0	0	0	0	1	5727	389	14	3		3	FBXO11	2	48066036	Silent	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08		48066036	195133337	6	3922											
ZNF2	7549	broad.mit.edu	37	2	95843249	95843249	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:95843249G>A	ENST00000340539.5	+	3	517	c.55G>A	c.(55-57)Gtt>Att	p.V19I	ZNF2_ENST00000453539.2_Missense_Mutation_p.V19I|ZNF2_ENST00000295210.6_Missense_Mutation_p.V19I|ZNF2_ENST00000425369.1_De_novo_Start_OutOfFrame|ZNF2_ENST00000398107.2_De_novo_Start_OutOfFrame	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	19	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTCGAAGACGTTGCCGTGGT	0.443																																						uc002suf.3																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(55-57)Gtt>Att		Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.							177	172	173					2																	95843249		1982	4183	6165	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95843249G>A	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.55G>A	2.37:g.95843249G>A	ENSP00000345392:p.Val19Ile		Somatic				ZNF2_uc002sug.3_5'UTR|ZNF2_uc010yue.2_Missense_Mutation_p.V19I|ZNF2_uc010fhs.3_5'UTR	p.V19I	NM_021088	NP_066574	WXS	Illumina GAIIx	Phase_I	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	2	517	+		Ovarian(717;0.00768)	19			KRAB.		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.55G>A	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926679	0.52759	.	.	ENSG00000163067	ENST00000340539;ENST00000295210;ENST00000453539	T;T;T	0.08720	3.06;3.06;3.06	5.07	5.07	0.68467	Krueppel-associated box (4);	0.000000	0.42964	D	0.000636	T	0.32346	0.0826	M	0.83692	2.655	0.32804	D	0.500571	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.46034	-0.9220	10	0.87932	D	0	-19.2748	15.9862	0.80155	0.0:0.0:1.0:0.0	.	19;19	B4DIR4;Q9BSG1	.;ZNF2_HUMAN	I	19	ENSP00000345392:V19I;ENSP00000295210:V19I;ENSP00000411051:V19I	ENSP00000295210:V19I	V	+	1	0	ZNF2	95206976	1.000000	0.71417	0.850000	0.33497	0.081000	0.17604	4.402000	0.59722	2.623000	0.88846	0.609000	0.83330	GTT		0.443	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		46	130	0	0	0	1	0	46	130					A	95843249	G	A	95843249	3	1	222	1	0	0	0	0	1	0	0	0	17757	1145	40	1	61	1	ZNF2	2	95843249	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	47777213	95843249	147356124	7	3923											
TTN	7273	broad.mit.edu	37	2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr2:179476842G>A	ENST00000591111.1	-	217	45597	c.45373C>T	c.(45373-45375)Cga>Tga	p.R15125*	TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R16766*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15125	Fibronectin type-III 10. {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)			TCAACATGTCGTTTTGTCACA	0.403																																						uc021vsy.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.(42592-42594)Cga>Tga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							106	94	98					2																	179476842		1874	4098	5972	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476842G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45373C>T	2.37:g.179476842G>A	ENSP00000465570:p.Arg15125*		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R7893*|TTN_uc021vta.1_Nonsense_Mutation_p.R7826*|TTN_uc021vtb.1_Nonsense_Mutation_p.R7701*	p.R14198*	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		215	42817	-			15125			Fibronectin type-III 2.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.42592C>T		.	.	.	.	.	.	.	.	.	.	G	59	37.731312	0.99984	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	0.537	0.17144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6047	0.45388	0.0:0.1944:0.2015:0.604	.	.	.	.	X	14198;7701;7893;7826;7701	.	ENSP00000340554:R7893X	R	-	1	2	TTN	179185087	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.702000	0.37836	0.136000	0.18733	0.655000	0.94253	CGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	14	0	0	0	1	0	16	14					A	179476842	G	A	179476842	4	1	222	1	0	0	0	0	0	1	0	0	16732	1153	40	1	57781	1	TTN	2	179476842	Nonsense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	83633593	179476842	63722531	8	3924											
SCN11A	11280	broad.mit.edu	37	3	38889182	38889182	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:38889182G>A	ENST00000302328.3	-	26	4577	c.4379C>T	c.(4378-4380)aCg>aTg	p.T1460M	SCN11A_ENST00000450244.1_Missense_Mutation_p.T1460M|SCN11A_ENST00000456224.3_Missense_Mutation_p.T1422M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1460					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)	TCTGAAGAGCGTCGGAGGGAA	0.493																																						uc021wvy.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.(4378-4380)aCg>aTg		Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	Cocaine(DB00907)						40	44	42					3																	38889182		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38889182G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4379C>T	3.37:g.38889182G>A	ENSP00000307599:p.Thr1460Met		Somatic					p.T1460M	NM_014139	NP_054858	WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	25	4578	-			1460					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4379C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920064	0.73098	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98512	-4.97;-4.97;-4.97	5.83	3.72	0.42706	Ion transport (1);	0.102782	0.64402	D	0.000003	D	0.98735	0.9575	H	0.94734	3.575	0.38360	D	0.944577	D	0.67145	0.996	P	0.52343	0.696	D	0.99927	1.1294	10	0.87932	D	0	.	13.4439	0.61129	0.1476:0.0:0.8524:0.0	.	1460	Q9UI33	SCNBA_HUMAN	M	1460;1460;1422	ENSP00000307599:T1460M;ENSP00000400945:T1460M;ENSP00000416757:T1422M	ENSP00000307599:T1460M	T	-	2	0	SCN11A	38864186	1.000000	0.71417	0.669000	0.29828	0.966000	0.64601	5.743000	0.68655	1.471000	0.48121	0.650000	0.86243	ACG		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		17	22	0	0	0	1	0	17	22					A	38889182	G	A	38889182	3	1	222	1	0	0	0	0	1	0	0	0	13913	1145	40	1	1000	1	SCN11A	3	38889182	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		38889182	159133248	9	3925											
PFKFB4	5210	broad.mit.edu	37	3	48561154	48561154	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:48561154T>C	ENST00000232375.3	-	11	1314	c.1202A>G	c.(1201-1203)tAc>tGc	p.Y401C	PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y390C|PFKFB4_ENST00000383734.2_Missense_Mutation_p.Y366C|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y394C|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y367C	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	401	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCGAGGAAGTAGGCCAGCAG	0.602																																						uc003ctv.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1201-1203)tAc>tGc		Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.							103	89	94					3																	48561154		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48561154T>C	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1202A>G	3.37:g.48561154T>C	ENSP00000232375:p.Tyr401Cys		Somatic				PFKFB4_uc003ctx.3_Missense_Mutation_p.Y358C|PFKFB4_uc010hkb.3_Missense_Mutation_p.Y394C|PFKFB4_uc003ctw.3_Missense_Mutation_p.Y210C|PFKFB4_uc010hkc.3_Missense_Mutation_p.Y366C|PFKFB4_uc011bbm.2_Missense_Mutation_p.Y390C	p.Y401C	NM_004567	NP_004558	WXS	Illumina GAIIx	Phase_I	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	10	1219	-			401			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.1202A>G	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165114	0.78339	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.97315	3.98	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;0.996;0.999;1.0	D	0.90752	0.4658	9	0.87932	D	0	-20.2928	11.9822	0.53125	0.0:0.0:0.0:1.0	.	390;366;394;401	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	C	401;390;394;366;367	.	ENSP00000232375:Y401C	Y	-	2	0	PFKFB4	48536158	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.804000	0.85993	1.915000	0.55452	0.460000	0.39030	TAC		0.602	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		40	39	0	0	0	1	0	40	39					C	48561154	T	C	48561154	3	2	222	1	0	0	0	0	1	0	0	0	11763	1638	57	3	223	3	PFKFB4	3	48561154	Missense_Mutation	SNP	T	TCGA-EL-A4K6-01A-12D-A257-08	9671972	48561154	149461276	10	3926											
C3orf1	51300	broad.mit.edu	37	3	119217604	119217605	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr3:119217604_119217605GC>TT	ENST00000494664.1	+	1	226_227	c.24_25GC>TT	c.(22-27)ccGCgg>ccTTgg	p.R9W	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R9W|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	9						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CACCGGCACCGCGGAGCTTTCT	0.599																																						uc003ecn.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(22-27)ccgcgg>ccTTgg		Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.																																				SO:0001583	missense	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217604_119217605GC>TT	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	Exception_encountered	3.37:g.119217604_119217605delinsTT	ENSP00000418803:p.Arg9Trp		Somatic				TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_5'Flank	p.R9W	NM_016589	NP_057673	WXS	Illumina GAIIx	Phase_I	Q9NPL8	TIDC1_HUMAN			0	237_238	+			9					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	DNP	ENST00000494664.1	37	c.24_25GC>TT	CCDS33831.1																																																																																				0.599	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		75	100	0	0	0	1	0	75	100					TT	119217605	GC	TT	119217604	3	4	222	1	0	0	0	0	1	0	0	0	2206	1074	38	4	26	4	C3orf1	3	119217604	Missense_Mutation	DNP	GC	TCGA-EL-A4K6-01A-12D-A257-08	70656450	119217604	78804826	11	3927											
PITX2	5308	broad.mit.edu	37	4	111539567	111539567	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr4:111539567G>C	ENST00000354925.2	-	7	2373	c.668C>G	c.(667-669)tCg>tGg	p.S223W	RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394595.3_Silent_p.V154V|PITX2_ENST00000355080.5_Missense_Mutation_p.S177W|PITX2_ENST00000394598.2_Missense_Mutation_p.S223W|PITX2_ENST00000306732.3_Missense_Mutation_p.S230W	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	223					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II 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 transcription coactivator activity (GO:0001105)|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)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S230L(1)|p.S223L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CATGCTGGACGACATGCTCAT	0.547																																						uc003iac.3																			2	Substitution - Missense(2)	p.S230L(2)|p.S223L(1)	endometrium(2)	breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(688-690)tCg>tGg		Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA.							77	75	76					4																	111539567		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539567G>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.668C>G	4.37:g.111539567G>C	ENSP00000347004:p.Ser223Trp		Somatic				PITX2_uc003iaf.3_Missense_Mutation_p.S223W|PITX2_uc003iad.3_Missense_Mutation_p.S223W|PITX2_uc021xqr.1_Missense_Mutation_p.S223W|PITX2_uc003iae.3_Missense_Mutation_p.S177W|PITX2_uc021xqs.1_Missense_Mutation_p.S177W	p.S230W	NM_000325	NP_000316	WXS	Illumina GAIIx	Phase_I	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	2	1327	-		Hepatocellular(203;0.217)	223					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.689C>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547750	0.65311	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	D;D;D;D;D	0.93763	-2.93;-3.05;-3.2;-3.05;-3.28	5.25	5.25	0.73442	.	0.107193	0.64402	D	0.000004	D	0.94958	0.8369	L	0.43923	1.385	0.80722	D	1	P;D;D;D	0.67145	0.946;0.969;0.996;0.993	P;B;D;P	0.64687	0.708;0.442;0.928;0.902	D	0.94679	0.7863	10	0.51188	T	0.08	.	19.0324	0.92963	0.0:0.0:1.0:0.0	.	177;177;223;230	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	W	230;223;177;223;223	ENSP00000304169:S230W;ENSP00000378097:S223W;ENSP00000347192:S177W;ENSP00000347004:S223W;ENSP00000421454:S223W	ENSP00000304169:S230W	S	-	2	0	PITX2	111759016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.737000	0.93849	0.563000	0.77884	TCG		0.547	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			32	38	0	0	0	1	0	32	38					C	111539567	G	C	111539567	3	2	222	1	0	0	0	0	1	0	0	0	11955	1059	37	4	289	4	PITX2	4	111539567	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		111539567	79614709	12	3928											
CTNND2	1501	broad.mit.edu	37	5	11159811	11159811	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:11159811A>G	ENST00000304623.8	-	12	2225	c.2036T>C	c.(2035-2037)cTa>cCa	p.L679P	CTNND2_ENST00000511377.1_Missense_Mutation_p.L588P|CTNND2_ENST00000458100.2_Missense_Mutation_p.L246P|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.L679P|CTNND2_ENST00000503622.1_Missense_Mutation_p.L342P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	679					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGTACTGCTAGGGCATCCTG	0.502																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2035-2037)cTa>cCa		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							185	168	174					5																	11159811		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11159811A>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2036T>C	5.37:g.11159811A>G	ENSP00000307134:p.Leu679Pro		Somatic				CTNND2_uc010itt.2_Missense_Mutation_p.L588P|CTNND2_uc011cmy.1_Missense_Mutation_p.L342P|CTNND2_uc011cmz.1_Missense_Mutation_p.L246P|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.L246P	p.L679P	NM_001332	NP_001323	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			11	2181	-			679					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2036T>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550703	0.86127	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.96;0.96;0.991	T	0.78122	-0.2327	10	0.87932	D	0	-14.9743	16.8061	0.85666	1.0:0.0:0.0:0.0	.	342;246;679	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	P	679;679;588;246;342	ENSP00000307134:L679P;ENSP00000352661:L679P;ENSP00000426510:L588P;ENSP00000391155:L246P;ENSP00000426887:L342P	ENSP00000307134:L679P	L	-	2	0	CTNND2	11212811	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.874000	0.92363	2.367000	0.80283	0.528000	0.53228	CTA		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		12	121	0	0	0	1	0	12	121					G	11159811	A	G	11159811	3	3	222	1	0	0	0	0	1	0	0	0	4020	420	15	3	1685	3	CTNND2	5	11159811	Missense_Mutation	SNP	A	TCGA-EL-A4K6-01A-12D-A257-08		11159811	169755449	13	3929											
TIFAB	140947	broad.mit.edu	37	5	134785192	134785192	+	5'Flank	SNP	G	G	A	rs377099358		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr5:134785192G>A	ENST00000503143.2	-	0	0				CTB-138E5.1_ENST00000510230.1_RNA|TIFAB_ENST00000537858.1_Silent_p.D146D	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCCCATTCGTCAGTTTCCT	0.572																																						uc003law.4																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(436-438)gaC>gaT		Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.		G		1,3897		0,1,1948	61	65	64		438	-10.6	0.0	5		64	0,8280		0,0,4140	no	coding-synonymous	TIFAB	NM_001099221.1		0,1,6088	AA,AG,GG		0.0,0.0257,0.0082		146/162	134785192	1,12177	1949	4140	6089	SO:0001631	upstream_gene_variant	497189							g.chr5:134785192G>A																													5.37:g.134785192G>A	Exception_encountered		Somatic				C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Silent_p.D146D	p.D146D	NM_001099221	NP_001092691	WXS	Illumina GAIIx	Phase_I	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	639	-			146						Silent	SNP	ENST00000503143.2	37	c.438C>T	CCDS4186.1																																																																																				0.572	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			42	63	0	0	0	1	0	42	63					A	134785192	G	A	134785192	1	1	222	0	1	0	0	0	0	0	0	0	15892	1136	40	1		1	TIFAB	5	134785192	5'Flank	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	123625381	134785192	46130068	14	3930											
CCDC129	223075	broad.mit.edu	37	7	31592727	31592727	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:31592727C>T	ENST00000407970.3	+	2	127	c.89C>T	c.(88-90)gCg>gTg	p.A30V	CCDC129_ENST00000319386.3_Missense_Mutation_p.A30V|CCDC129_ENST00000409210.1_5'Flank|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.A56V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	30										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCAAAAGCGCGTGGGCTCCG	0.537																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(166-168)gCg>gTg		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.																																				SO:0001583	missense	223075							g.chr7:31592727C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.89C>T	7.37:g.31592727C>T	ENSP00000384416:p.Ala30Val		Somatic				CCDC129_uc011kad.1_Missense_Mutation_p.A40V|CCDC129_uc003tcj.1_Missense_Mutation_p.A30V|CCDC129_uc003tci.1_Missense_Mutation_p.A29V|CCDC129_uc003tck.1_5'Flank	p.A56V	NM_194300	NP_919276	WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			1	179	+			30					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.167C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352423	0.11182	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	T;T;T;T;T;T	0.52754	0.65;0.71;1.96;2.13;0.68;2.12	5.35	2.59	0.31030	.	0.000000	0.45606	D	0.000352	T	0.32971	0.0847	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.30211	0.273;0.273;0.273;0.273	B;B;B;B	0.28305	0.088;0.088;0.088;0.066	T	0.13764	-1.0497	10	0.23891	T	0.37	-8.7493	10.6813	0.45815	0.0:0.8304:0.0:0.1696	.	56;40;30;30	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	V	30;30;30;30;30;56;40	ENSP00000387220:A30V;ENSP00000390544:A30V;ENSP00000313062:A30V;ENSP00000384416:A30V;ENSP00000413233:A30V;ENSP00000395835:A56V	ENSP00000313062:A30V	A	+	2	0	CCDC129	31559252	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.151000	0.16283	0.493000	0.27837	-0.940000	0.02684	GCG		0.537	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		10	7	0	0	0	1	0	10	7					T	31592727	C	T	31592727	3	4	222	1	0	0	0	0	1	0	0	0	2764	768	27	1	91	1	CCDC129	7	31592727	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		31592727	127545936	15	3931											
ADCY1	107	broad.mit.edu	37	7	45688322	45688322	+	Silent	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:45688322G>A	ENST00000297323.7	+	5	1096	c.1074G>A	c.(1072-1074)tcG>tcA	p.S358S	ADCY1_ENST00000432715.1_Silent_p.S133S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	358					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTGCGTGTCGGGCCTCACCC	0.577																																						uc003tne.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1072-1074)tcG>tcA		Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						113	90	98					7																	45688322		2203	4300	6503	SO:0001819	synonymous_variant	107				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 membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688322G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1074G>A	7.37:g.45688322G>A			Somatic				ADCY1_uc003tnd.3_Silent_p.S133S	p.S358S	NM_021116	NP_066939	WXS	Illumina GAIIx	Phase_I	Q08828	ADCY1_HUMAN			4	1092	+			358					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1074G>A	CCDS34631.1																																																																																				0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		15	41	0	0	0	1	0	15	41					A	45688322	G	A	45688322	2	1	222	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45688322	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	14095595	45688322	113450341	16	3932											
ABP1	26	broad.mit.edu	37	7	150553564	150553564	+	Silent	SNP	G	G	A	rs565800850		TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr7:150553564G>A	ENST00000493429.1	+	4	590	c.6G>A	c.(4-6)ccG>ccA	p.P2P	AOC1_ENST00000360937.4_Silent_p.P2P|AOC1_ENST00000416793.2_Silent_p.P2P|AOC1_ENST00000467291.1_Silent_p.P2P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	2					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.P2P(1)								Amiloride(DB00594)	GAGAGATGCCGGCCCTGGGCT	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		19665	0		0	False		,,,				2504	0					uc003wia.1																			1	Substitution - coding silent(1)	p.P2P(2)	lung(1)	NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4-6)ccG>ccA		Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	Amiloride(DB00594)|Spermine(DB00127)						28	30	29					7																	150553564		1933	4130	6063	SO:0001819	synonymous_variant	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150553564G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.6G>A	7.37:g.150553564G>A			Somatic				ABP1_uc003why.1_Silent_p.P2P|ABP1_uc003whz.1_Silent_p.P2P	p.P2P	NM_001091	NP_001082	WXS	Illumina GAIIx	Phase_I	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	96	+	all_neural(206;0.219)		2					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.6G>A	CCDS43679.1																																																																																				0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		27	35	0	0	0	1	0	27	35					A	150553564	G	A	150553564	2	1	222	1	0	0	0	0	0	0	0	1	98	1103	39	1		1	ABP1	7	150553564	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08	104865242	150553564	8585099	17	3933											
PRKDC	5591	broad.mit.edu	37	8	48686858	48686858	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:48686858T>C	ENST00000314191.2	-	87	12316	c.12260A>G	c.(12259-12261)aAc>aGc	p.N4087S	PRKDC_ENST00000338368.3_Missense_Mutation_p.N4056S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4088					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)	GGCACGAATGTTGTGATCTTT	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.3																			0				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						c.(12259-12261)aAc>aGc	Non-homologous end-joining	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.							106	99	102					8																	48686858		1969	4137	6106	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48686858T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.12260A>G	8.37:g.48686858T>C	ENSP00000313420:p.Asn4087Ser		Somatic				PRKDC_uc003xqj.3_Missense_Mutation_p.N4056S	p.N4087S	NM_006904	NP_008835	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			86	12317	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	4088					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.12260A>G		.	.	.	.	.	.	.	.	.	.	T	14.08	2.428276	0.43122	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02552	4.25;4.27	5.86	4.71	0.59529	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.139910	0.64402	N	0.000007	T	0.04588	0.0125	L	0.58583	1.82	0.58432	D	0.999994	B;B	0.23442	0.047;0.085	B;B	0.21151	0.033;0.032	T	0.32428	-0.9907	10	0.40728	T	0.16	.	11.8871	0.52608	0.0:0.0682:0.0:0.9318	.	4056;4088	E7EUY0;P78527	.;PRKDC_HUMAN	S	4087;4056	ENSP00000313420:N4087S;ENSP00000345182:N4056S	ENSP00000313420:N4087S	N	-	2	0	PRKDC	48849411	1.000000	0.71417	0.796000	0.32109	0.297000	0.27493	4.006000	0.57083	1.044000	0.40200	0.528000	0.53228	AAC		0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		9	12	0	0	0	1	0	9	12					C	48686858	T	C	48686858	3	2	222	1	0	0	0	0	1	0	0	0	12521	1725	60	3	127	3	PRKDC	8	48686858	Missense_Mutation	SNP	T	TCGA-EL-A4K6-01A-12D-A257-08		48686858	97677164	18	3934											
SLA	6503	broad.mit.edu	37	8	134050954	134050955	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr8:134050954_134050955delTC	ENST00000338087.5	-	9	1464_1465	c.645_646delGA	c.(643-648)gagaacfs	p.N216fs	SLA_ENST00000524345.1_Frame_Shift_Del_p.N108fs|SLA_ENST00000427060.2_Frame_Shift_Del_p.N256fs|TG_ENST00000220616.4_Intron|SLA_ENST00000395352.3_Frame_Shift_Del_p.N233fs|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.N189fs|TG_ENST00000542445.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	216	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCAAGCGGGTTCTCTGTTCCCT	0.53																																						uc011ljd.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(763-768)gagaacfs		Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050954_134050955delTC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.645_646delGA	8.37:g.134050956_134050957delTC	ENSP00000337548:p.Asn216fs		Somatic				TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Del_p.E215fs|SLA_uc011lje.2_Frame_Shift_Del_p.E232fs|SLA_uc011ljf.2_Frame_Shift_Del_p.E107fs|SLA_uc011ljg.2_Frame_Shift_Del_p.E188fs	p.E255fs	NM_006748	NP_006739	WXS	Illumina GAIIx	Phase_I	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		6	843_844	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	215			SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Frame_Shift_Del	DEL	ENST00000338087.5	37	c.765_766delGA	CCDS6370.1																																																																																				0.53	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			29	34						29	34	---	---	---	---	-	134050955	TC	-	134050954	7	5	222	1	0	1	0	1	0	0	0	0	14363	1783	62	0	188	0	SLA	8	134050954	Frame_Shift_Del	DEL	TC	TCGA-EL-A4K6-01A-12D-A257-08	85364096	134050954	12313068	19	3935											
ORM1	5004	broad.mit.edu	37	9	117086322	117086322	+	Silent	SNP	C	C	G			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr9:117086322C>G	ENST00000259396.8	+	3	360	c.282C>G	c.(280-282)acC>acG	p.T94T	ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	94					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	TCTATAACACCACCTACCTGA	0.552																																						uc004bik.4																			0				endometrium(2)|large_intestine(4)|lung(2)	8						c.(280-282)acC>acG		Homo sapiens orosomucoid 1 (ORM1), mRNA.	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						151	160	157					9																	117086322		2203	4300	6503	SO:0001819	synonymous_variant	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117086322C>G		CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"Lipocalins"	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.282C>G	9.37:g.117086322C>G			Somatic				ORM1_uc011lxo.2_Silent_p.T94T	p.T94T	NM_000607	NP_000598	WXS	Illumina GAIIx	Phase_I	P02763	A1AG1_HUMAN			2	393	+		Myeloproliferative disorder(63;0.163)	94					B7ZKQ5|Q5T539|Q5U067|Q8TC16	Silent	SNP	ENST00000259396.8	37	c.282C>G	CCDS6803.1																																																																																				0.552	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1			30	224	0	0	0	1	0	30	224					G	117086322	C	G	117086322	2	3	222	1	0	0	0	0	0	0	0	1	11267	581	21	4		4	ORM1	9	117086322	Silent	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		117086322	24127109	20	3936											
SH3PXD2A	9644	broad.mit.edu	37	10	105420865	105420865	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr10:105420865G>T	ENST00000369774.4	-	8	756	c.480C>A	c.(478-480)gaC>gaA	p.D160E	SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D22E|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D160E|SH3PXD2A_ENST00000538130.1_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D27E|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	160					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGCGGTGGCGTCGGCACCTG	0.692																																						uc001kxj.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(478-480)gaC>gaA		Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.							100	104	102					10																	105420865		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105420865G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.480C>A	10.37:g.105420865G>T	ENSP00000358789:p.Asp160Glu		Somatic				SH3PXD2A_uc010qqr.2_Missense_Mutation_p.D22E|SH3PXD2A_uc010qqs.1_5'UTR|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.D37E|SH3PXD2A_uc009xxn.1_5'UTR|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.D75E	p.D160E	NM_014631	NP_055446	WXS	Illumina GAIIx	Phase_I	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	7	620	-		Colorectal(252;0.0815)|Breast(234;0.131)	160					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.480C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.472140|3.472140	0.63737|0.63737	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000536035;ENST00000540321|ENST00000420222	T;T;T;T|.	0.67171|.	-0.25;0.51;0.56;0.45|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Src homology-3 domain (1);|.	0.060239|.	0.64402|.	D|.	0.000008|.	T|T	0.49012|0.49012	0.1532|0.1532	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;D;P;P|.	0.63046|.	0.905;0.992;0.562;0.943|.	P;P;B;P|.	0.57502|.	0.451;0.822;0.096;0.653|.	T|T	0.42882|0.42882	-0.9425|-0.9425	10|5	0.02654|.	T|.	1|.	-45.4549|-45.4549	12.8823|12.8823	0.58024|0.58024	0.0846:0.0:0.9154:0.0|0.0846:0.0:0.9154:0.0	.|.	160;37;22;160|.	Q5TCZ1;B7Z9L8;F8WCK5;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	E|S	22;160;160;75;27|115	ENSP00000392664:D22E;ENSP00000358789:D160E;ENSP00000348215:D160E;ENSP00000443663:D27E|.	ENSP00000348215:D160E|.	D|R	-|-	3|1	2|0	SH3PXD2A|SH3PXD2A	105410855|105410855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.772000|2.772000	0.47678|0.47678	2.504000|2.504000	0.84457|0.84457	0.561000|0.561000	0.74099|0.74099	GAC|CGC		0.692	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		83	90	0	0	0	1	0	83	90					T	105420865	G	T	105420865	3	4	222	1	0	0	0	0	1	0	0	0	14256	1136	40	4	2865	4	SH3PXD2A	10	105420865	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		105420865	30113882	21	3937											
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:5172912G>A	ENST00000380367.1	-	2	1105	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423																																						uc010qyy.2																			0		p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(688-690)Cgt>Tgt		Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.							165	152	157					11																	5172912		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172912G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.688C>T	11.37:g.5172912G>A	ENSP00000369725:p.Arg230Cys		Somatic					p.R230C	NM_012375	NP_036507	WXS	Illumina GAIIx	Phase_I	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	688	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	230					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.688C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	4.139	0.024086	0.08006	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00267	8.38;8.38	5.33	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	1.100120	0.06929	N	0.810707	T	0.00210	0.0006	M	0.67625	2.065	0.09310	N	1	B	0.19200	0.034	B	0.15484	0.013	T	0.20907	-1.0261	10	0.45353	T	0.12	.	5.6185	0.17444	0.0716:0.093:0.3925:0.443	.	230	Q9UKL2	O52A1_HUMAN	C	230	ENSP00000369725:R230C;ENSP00000333684:R230C	ENSP00000333684:R230C	R	-	1	0	OR52A1	5129488	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.532000	0.02217	-0.101000	0.12219	-0.850000	0.03035	CGT		0.423	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		5	84	0	0	0	1	0	5	84					A	5172912	G	A	5172912	3	1	222	1	0	0	0	0	1	0	0	0	11108	1058	37	1	252	1	OR52A1	11	5172912	Missense_Mutation	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		5172912	129833604	22	3938											
SHANK2	22941	broad.mit.edu	37	11	70333190	70333190	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:70333190C>T	ENST00000423696.2	-	15	2107	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E475K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1071K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E474K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	691					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCAGGCTTTCGTCAGGCCGC	0.701																																						uc001oqc.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3010-3012)Gaa>Aaa		Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.							31	36	34					11																	70333190		2180	4244	6424	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	g.chr11:70333190C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2071G>A	11.37:g.70333190C>T	ENSP00000394536:p.Glu691Lys		Somatic				SHANK2_uc010rqn.2_Missense_Mutation_p.E480K|SHANK2_uc001opz.3_Missense_Mutation_p.E475K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	p.E1004K	NM_012309	NP_036441	WXS	Illumina GAIIx	Phase_I	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		20	3122	-			691					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3010G>A		.	.	.	.	.	.	.	.	.	.	C	15.46	2.839087	0.51057	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.73	4.73	0.59995	.	0.046857	0.85682	D	0.000000	T	0.30603	0.0770	N	0.24115	0.695	0.80722	D	1	B;B;B	0.32731	0.002;0.382;0.165	B;B;B	0.25987	0.002;0.049;0.065	T	0.13098	-1.0522	10	0.44086	T	0.13	.	17.6921	0.88271	0.0:1.0:0.0:0.0	.	691;1070;475	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	475;474;349;1071;691;709;694	ENSP00000399423:E475K;ENSP00000386491:E474K;ENSP00000402944:E349K;ENSP00000345193:E1071K;ENSP00000394536:E691K;ENSP00000294018:E694K	ENSP00000294018:E694K	E	-	1	0	SHANK2	70010838	1.000000	0.71417	0.902000	0.35471	0.596000	0.36781	7.290000	0.78711	2.182000	0.69389	0.561000	0.74099	GAA		0.701	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		29	47	0	0	0	1	0	29	47					T	70333190	C	T	70333190	3	4	222	1	0	0	0	0	1	0	0	0	14265	893	31	1	2349	1	SHANK2	11	70333190	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08	65160278	70333190	64673326	23	3939											
ARHGAP32	9743	broad.mit.edu	37	11	129034263	129034263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr11:129034263delT	ENST00000310343.9	-	2	175	c.176delA	c.(175-177)aatfs	p.N59fs	ARHGAP32_ENST00000524655.1_5'Flank	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	59					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGGGTGTACATTTCTATGTAG	0.348																																						uc009zcp.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(175-177)aatfs		Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.							74	65	68					11																	129034263		1566	3578	5144	SO:0001589	frameshift_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:129034263delT	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.176delA	11.37:g.129034263delT	ENSP00000310561:p.Asn59fs		Somatic				ARHGAP32_uc009zcq.2_Frame_Shift_Del_p.N19fs	p.N59fs	NM_001142685	NP_055530	WXS	Illumina GAIIx	Phase_I	A7KAX9	RHG32_HUMAN			1	176	-			59					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Frame_Shift_Del	DEL	ENST00000310343.9	37	c.176delA	CCDS44769.1																																																																																				0.348	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		2	4						2	4	---	---	---	---	-	129034263	T	-	129034263	7	5	222	1	0	1	0	1	0	0	0	0	881	1493	52	0	6171	0	ARHGAP32	11	129034263	Frame_Shift_Del	DEL	T	TCGA-EL-A4K6-01A-12D-A257-08	58701073	129034263	5972253	24	3940											
C12orf71	728858	broad.mit.edu	37	12	27234344	27234344	+	Silent	SNP	G	G	A			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr12:27234344G>A	ENST00000429849.2	-	2	603	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	191										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GCTCTGACAGGATTGAGGAGA	0.537																																						uc001rhq.3																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(571-573)atC>atT		Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.							161	147	152					12																	27234344		2076	4215	6291	SO:0001819	synonymous_variant	728858							g.chr12:27234344G>A		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.573C>T	12.37:g.27234344G>A			Somatic					p.I191I	NM_001080406	NP_001073875	WXS	Illumina GAIIx	Phase_I	A8MTZ7	CL071_HUMAN			1	612	-			191						Silent	SNP	ENST00000429849.2	37	c.573C>T	CCDS44851.1																																																																																				0.537	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		55	51	0	0	0	1	0	55	51					A	27234344	G	A	27234344	2	1	222	1	0	0	0	0	0	0	0	1	1712	1164	41	2		2	C12orf71	12	27234344	Silent	SNP	G	TCGA-EL-A4K6-01A-12D-A257-08		27234344	106617551	25	3941											
DIS3	22894	broad.mit.edu	37	13	73345948	73345948	+	Silent	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr13:73345948C>T	ENST00000377767.4	-	11	1690	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	DIS3_ENST00000377780.4_Silent_p.V500V|DIS3_ENST00000545453.1_Silent_p.V368V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	530					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CACAAAGATACACAGTTGTTC	0.338										Multiple Myeloma(4;0.011)																												uc001vix.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1588-1590)gtG>gtA		Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.							85	85	85					13																	73345948		2203	4300	6503	SO:0001819	synonymous_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding	g.chr13:73345948C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1590G>A	13.37:g.73345948C>T		Multiple Myeloma(4;0.011)	Somatic				DIS3_uc001viy.4_Silent_p.V500V|DIS3_uc001viz.3_Non-coding_Transcript	p.V530V	NM_014953	NP_055768	WXS	Illumina GAIIx	Phase_I	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	10	1964	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	530					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.1590G>A	CCDS9447.1																																																																																				0.338	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		7	73	0	0	0	1	0	7	73					T	73345948	C	T	73345948	2	4	222	1	0	0	0	0	0	0	0	1	4535	465	17	2		2	DIS3	13	73345948	Silent	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		73345948	41823930	26	3942											
LRRC3	81543	broad.mit.edu	37	21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K6-01A-12D-A257-08	TCGA-EL-A4K6-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66eb4833-1b87-4fd9-a53d-26dc7ad6de29	1c4c0193-231e-4559-b362-94c10bbd7f67	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672																																						uc002zfa.3																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(421-423)Cgc>Tgc		Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.							40	42	41					21																	45876948		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876948C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.421C>T	21.37:g.45876948C>T	ENSP00000291592:p.Arg141Cys		Somatic				LRRC3_uc021wjs.1_Missense_Mutation_p.R141C	p.R141C	NM_030891	NP_112153	WXS	Illumina GAIIx	Phase_I	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	1	714	+		Breast(209;0.00908)	141					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.421C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163856	0.78226	.	.	ENSG00000160233	ENST00000291592	D	0.90385	-2.66	4.82	4.82	0.62117	.	0.186781	0.46758	D	0.000271	D	0.93344	0.7878	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.63703	0.917	D	0.92710	0.6182	10	0.39692	T	0.17	-60.251	17.9134	0.88942	0.0:1.0:0.0:0.0	.	141	Q9BY71	LRRC3_HUMAN	C	141	ENSP00000291592:R141C	ENSP00000291592:R141C	R	+	1	0	LRRC3	44701376	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.761000	0.26489	2.397000	0.81536	0.561000	0.74099	CGC		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			13	65	0	0	0	1	0	13	65					T	45876948	C	T	45876948	3	4	222	1	0	0	0	0	1	0	0	0	8984	536	19	1	423	1	LRRC3	21	45876948	Missense_Mutation	SNP	C	TCGA-EL-A4K6-01A-12D-A257-08		45876948	2252947	27	3943											
DOCK7	85440	broad.mit.edu	37	1	63042965	63042965	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:63042965G>C	ENST00000340370.5	-	18	2097	c.2080C>G	c.(2080-2082)Cca>Gca	p.P694A	DOCK7_ENST00000251157.5_Missense_Mutation_p.P694A	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	694	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCTGTGGTGGTTTTTCCAAT	0.373																																						uc001daq.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2080-2082)Cca>Gca		Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.							74	73	73					1																	63042965		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity	g.chr1:63042965G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2080C>G	1.37:g.63042965G>C	ENSP00000340742:p.Pro694Ala		Somatic				DOCK7_uc001dan.3_Missense_Mutation_p.P586A|DOCK7_uc001dao.3_Missense_Mutation_p.P586A|DOCK7_uc001dap.3_Missense_Mutation_p.P694A	p.P694A	NM_033407	NP_212132	WXS	Illumina GAIIx	Phase_I	Q96N67	DOCK7_HUMAN			17	2114	-			694			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2080C>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340714	0.81911	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14022	2.54;2.54	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	M	0.86343	2.81	0.80722	D	1	D;P;D;D	0.69078	0.997;0.843;0.968;0.969	D;P;P;P	0.72075	0.976;0.473;0.775;0.615	T	0.43475	-0.9389	10	0.42905	T	0.14	.	18.5867	0.91192	0.0:0.0:1.0:0.0	.	694;694;694;694	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	A	694	ENSP00000251157:P694A;ENSP00000340742:P694A	ENSP00000251157:P694A	P	-	1	0	DOCK7	62815553	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.657000	0.98554	2.623000	0.88846	0.467000	0.42956	CCA		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		15	36	0	0	0	1	0	15	36					C	63042965	G	C	63042965	3	2	223	1	0	0	0	0	1	0	0	0	4692	1261	44	4	4377	4	DOCK7	1	63042965	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		63042965	186207656	1	3944											
PDE4DIP	9659	broad.mit.edu	37	1	144906087	144906087	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:144906087T>C	ENST00000369354.3	-	19	2735	c.2546A>G	c.(2545-2547)cAa>cGa	p.Q849R	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q986R|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q915R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q636R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q986R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	849					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)		TGAAATTTCTTGACCCTGGGA	0.353			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		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.(2545-2547)cAa>cGa		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							77	81	79					1																	144906087		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	g.chr1:144906087T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2546A>G	1.37:g.144906087T>C	ENSP00000358360:p.Gln849Arg		Somatic				NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q849R|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q915R|PDE4DIP_uc001emd.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emc.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q1012R|PDE4DIP_uc001eme.1_Intron	p.Q849R	NM_001198834	NP_001185763	WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	18	2848	-			849					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.2546A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878364	0.51801	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12039	4.71;4.84;4.84;4.84;4.83;3.85;3.85;2.76;2.74;2.72	5.6	4.41	0.53225	.	.	.	.	.	T	0.08802	0.0218	L	0.29908	0.895	0.80722	D	1	P;P;P;D;D	0.65815	0.914;0.944;0.929;0.985;0.995	B;P;P;P;P	0.58721	0.395;0.548;0.503;0.786;0.844	T	0.21861	-1.0233	9	0.15499	T	0.54	.	9.146	0.36933	0.0:0.0:0.1838:0.8162	.	1012;849;1012;915;849	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	R	915;849;849;1012;986;986;849;849;1012;1012;636	ENSP00000327209:Q915R;ENSP00000358360:Q849R;ENSP00000358363:Q849R;ENSP00000435654:Q986R;ENSP00000358366:Q986R;ENSP00000358357:Q849R;ENSP00000358355:Q849R;ENSP00000316434:Q1012R;ENSP00000433392:Q1012R;ENSP00000436791:Q636R	ENSP00000327209:Q915R	Q	-	2	0	PDE4DIP	143617444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.104000	0.50306	2.171000	0.68590	0.467000	0.42956	CAA		0.353	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	98	0	0	0	1	0	10	98					C	144906087	T	C	144906087	3	2	223	1	0	0	0	0	1	0	0	0	11643	1812	63	3	4608	3	PDE4DIP	1	144906087	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08	81863122	144906087	104344534	2	3945											
S100A7	6278	broad.mit.edu	37	1	153430333	153430333	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr1:153430333G>T	ENST00000368723.3	-	3	365	c.255C>A	c.(253-255)gaC>gaA	p.D85E	S100A7_ENST00000368722.1_Missense_Mutation_p.D85E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTGTGGTAGTCTGTGGCTA	0.512																																						uc001fbv.1																			0		p.D85G(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(253-255)gaC>gaA		Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.							99	88	91					1																	153430333		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	g.chr1:153430333G>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.255C>A	1.37:g.153430333G>T	ENSP00000357712:p.Asp85Glu		Somatic					p.D85E	NM_002963	NP_002954	WXS	Illumina GAIIx	Phase_I	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	326	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		85			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.255C>A	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	9.037	0.988711	0.18966	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.06218	3.33;3.33	2.15	0.207	0.15214	EF-hand-like domain (1);	.	.	.	.	T	0.01287	0.0042	L	0.53249	1.67	0.09310	N	1	P	0.43412	0.806	B	0.37091	0.241	T	0.37526	-0.9702	9	0.06625	T	0.88	.	4.2297	0.10597	0.368:0.0:0.632:0.0	.	85	P31151	S10A7_HUMAN	E	85	ENSP00000357712:D85E;ENSP00000357711:D85E	ENSP00000357711:D85E	D	-	3	2	S100A7	151696957	0.329000	0.24696	0.004000	0.12327	0.149000	0.21700	0.266000	0.18534	0.062000	0.16340	0.194000	0.17425	GAC		0.512	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		33	55	0	0	0	1	0	33	55					T	153430333	G	T	153430333	3	4	223	1	0	0	0	0	1	0	0	0	13783	1020	36	4	54	4	S100A7	1	153430333	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08	8524246	153430333	95820288	3	3946											
COL6A6	131873	broad.mit.edu	37	3	130282318	130282318	+	Silent	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr3:130282318C>T	ENST00000358511.6	+	2	502	c.471C>T	c.(469-471)gaC>gaT	p.D157D	COL6A6_ENST00000453409.2_Silent_p.D157D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	157	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D157D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCGGAAAGACGGAGTGAAAA	0.493																																						uc010htl.3																			1	Substitution - coding silent(1)	p.D157D(2)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(469-471)gaC>gaT		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							57	57	57					3																	130282318		1923	4123	6046	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282318C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.471C>T	3.37:g.130282318C>T			Somatic					p.D157D	NM_001102608	NP_001096078	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			1	502	+			157			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.471C>T	CCDS46911.1																																																																																				0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	39	0	0	0	1	0	4	39					T	130282318	C	T	130282318	2	4	223	1	0	0	0	0	0	0	0	1	3703	535	19	1		1	COL6A6	3	130282318	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		130282318	67740112	4	3947											
GABRA2	2555	broad.mit.edu	37	4	46314729	46314729	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:46314729T>C	ENST00000510861.1	-	5	433	c.260A>G	c.(259-261)tAt>tGt	p.Y87C	GABRA2_ENST00000356504.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000507069.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000514090.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000381620.4_Missense_Mutation_p.Y87C|GABRA2_ENST00000515082.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000540012.1_Missense_Mutation_p.Y32C			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	87					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCAATTGTATATTCCTGAAA	0.249																																						uc011bzc.1																			0		p.Q31K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(94-96)tAt>tGt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						20	21	21					4																	46314729		2150	4279	6429	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46314729T>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.260A>G	4.37:g.46314729T>C	ENSP00000421828:p.Tyr87Cys		Somatic				GABRA2_uc003gxc.3_Missense_Mutation_p.Y87C|GABRA2_uc010igc.2_Missense_Mutation_p.Y87C|GABRA2_uc003gxe.3_Missense_Mutation_p.Y87C	p.Y32C			WXS	Illumina GAIIx	Phase_I	P47869	GBRA2_HUMAN			3	507	-			87					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.95A>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633857	0.67130	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	D	0.95272	0.8378	10	0.87932	D	0	.	15.5881	0.76502	0.0:0.0:0.0:1.0	.	32;87;87	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	C	87;87;87;87;32;87;87;87;87	ENSP00000421828:Y87C;ENSP00000421300:Y87C;ENSP00000371033:Y87C;ENSP00000348897:Y87C;ENSP00000444409:Y32C;ENSP00000427603:Y87C;ENSP00000423840:Y87C;ENSP00000424362:Y87C;ENSP00000424093:Y87C	ENSP00000348897:Y87C	Y	-	2	0	GABRA2	46009486	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	TAT		0.249	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			5	24	0	0	0	1	0	5	24					C	46314729	T	C	46314729	3	2	223	1	0	0	0	0	1	0	0	0	6161	1406	49	3	1119	3	GABRA2	4	46314729	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08		46314729	144839547	5	3948											
NDST4	64579	broad.mit.edu	37	4	115998001	115998001	+	Silent	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr4:115998001C>T	ENST00000264363.2	-	2	870	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	64	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTGTTTTCAGCTCCATTGACC	0.408																																						uc003ibu.3																			0		p.E64K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(190-192)gaG>gaA		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							150	173	165					4																	115998001		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115998001C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.192G>A	4.37:g.115998001C>T			Somatic				NDST4_uc010imw.3_Intron	p.E64E	NM_022569	NP_072091	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	1	871	-		Ovarian(17;0.156)	64			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.192G>A	CCDS3706.1																																																																																				0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		7	69	0	0	0	1	0	7	69					T	115998001	C	T	115998001	2	4	223	1	0	0	0	0	0	0	0	1	10258	796	28	2		2	NDST4	4	115998001	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	69683272	115998001	75156275	6	3949											
IRF5	3663	broad.mit.edu	37	7	128588791	128588791	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr7:128588791G>T	ENST00000402030.2	+	9	1488	c.1416G>T	c.(1414-1416)caG>caT	p.Q472H	IRF5_ENST00000357234.5_Missense_Mutation_p.Q488H|IRF5_ENST00000477535.1_Missense_Mutation_p.Q386H|IRF5_ENST00000473745.1_Missense_Mutation_p.Q472H|IRF5_ENST00000249375.4_Missense_Mutation_p.Q472H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	472					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCGGTTGCAGCCTGTGGCCC	0.597																																						uc003vog.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(1462-1464)caG>caT		Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 5, mRNA.							68	71	70					7																	128588791		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128588791G>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1416G>T	7.37:g.128588791G>T	ENSP00000385352:p.Gln472His		Somatic				IRF5_uc003voh.3_Missense_Mutation_p.Q472H|IRF5_uc010llt.3_Missense_Mutation_p.Q386H|IRF5_uc003voi.3_Missense_Mutation_p.Q472H|IRF5_uc003voj.4_Missense_Mutation_p.Q472H	p.Q488H	NM_001098629	NP_001092099	WXS	Illumina GAIIx	Phase_I	Q13568	IRF5_HUMAN			8	1585	+			472					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.1464G>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385739	0.42308	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97455	-4.39;-4.37;-4.39;-4.39;-4.39	5.87	4.04	0.47022	SMAD domain-like (1);SMAD/FHA domain (1);	0.139842	0.32640	N	0.005822	D	0.93812	0.8021	L	0.47716	1.5	0.28953	N	0.890291	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.001;0.001;0.005	D	0.88993	0.3416	10	0.52906	T	0.07	-2.4908	6.8101	0.23799	0.1526:0.1483:0.6991:0.0	.	386;472;488	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	488;386;472;472;472;462	ENSP00000349770:Q488H;ENSP00000419950:Q386H;ENSP00000385352:Q472H;ENSP00000249375:Q472H;ENSP00000419149:Q472H	ENSP00000249375:Q472H	Q	+	3	2	IRF5	128376027	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	1.411000	0.34702	1.473000	0.48159	0.655000	0.94253	CAG		0.597	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		39	72	0	0	0	1	0	39	72					T	128588791	G	T	128588791	3	4	223	1	0	0	0	0	1	0	0	0	7833	962	34	4	1494	4	IRF5	7	128588791	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		128588791	30549872	7	3950											
B4GALNT3	283358	broad.mit.edu	37	12	667249	667249	+	Missense_Mutation	SNP	G	G	A	rs539329065		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:667249G>A	ENST00000266383.5	+	17	2615	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	868					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CATAGACCTCGTGAAGGTAAA	0.547													G|||	1	0.000199681	8e-04	0	5008	,	,		22200	0		0	False		,,,				2504	0					uc001qii.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2602-2604)Gtg>Atg		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.							65	64	64					12																	667249		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667249G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2602G>A	12.37:g.667249G>A	ENSP00000266383:p.Val868Met		Somatic				B4GALNT3_uc001qik.1_Missense_Mutation_p.V417M	p.V868M	NM_173593	NP_775864	WXS	Illumina GAIIx	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		16	2602	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		868					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2602G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223582	0.79576	.	.	ENSG00000139044	ENST00000266383	T	0.35605	1.3	4.97	4.97	0.65823	.	0.179894	0.48286	D	0.000189	T	0.64972	0.2647	M	0.83603	2.65	0.50039	D	0.999843	D	0.89917	1.0	D	0.77557	0.99	T	0.70949	-0.4733	10	0.72032	D	0.01	-23.0392	18.6071	0.91271	0.0:0.0:1.0:0.0	.	868	Q6L9W6	B4GN3_HUMAN	M	868	ENSP00000266383:V868M	ENSP00000266383:V868M	V	+	1	0	B4GALNT3	537510	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.820000	0.62671	2.454000	0.82982	0.561000	0.74099	GTG		0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		4	49	0	0	0	1	0	4	49					A	667249	G	A	667249	3	1	223	1	0	0	0	0	1	0	0	0	1268	1145	40	1	2668	1	B4GALNT3	12	667249	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		667249	133184646	8	3951											
GCN1L1	10985	broad.mit.edu	37	12	120582584	120582584	+	Silent	SNP	T	T	C			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr12:120582584T>C	ENST00000300648.6	-	41	5223	c.5211A>G	c.(5209-5211)ccA>ccG	p.P1737P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1737					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACGATTTCTGGCATCAACT	0.517																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5209-5211)ccA>ccG		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							182	186	185					12																	120582584		2052	4211	6263	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582584T>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5211A>G	12.37:g.120582584T>C			Somatic					p.P1737P	NM_006836	NP_006827	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			40	5224	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1737					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5211A>G	CCDS41847.1																																																																																				0.517	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			58	103	0	0	0	1	0	58	103					C	120582584	T	C	120582584	2	2	223	1	0	0	0	0	0	0	0	1	6299	1567	55	3		3	GCN1L1	12	120582584	Silent	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08	119915335	120582584	13269311	9	3952											
IRS2	8660	broad.mit.edu	37	13	110438060	110438060	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr13:110438060G>A	ENST00000375856.3	-	1	855	c.341C>T	c.(340-342)gCc>gTc	p.A114V		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	114	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTGTAGAGGGCGATCAGGTA	0.657																																					Melanoma(100;613 2409 40847)	uc001vqv.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(340-342)gCc>gTc		Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.							35	25	29					13																	110438060		2198	4297	6495	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110438060G>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.341C>T	13.37:g.110438060G>A	ENSP00000365016:p.Ala114Val		Somatic					p.A114V	NM_003749	NP_003740	WXS	Illumina GAIIx	Phase_I	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		0	855	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	114			PH.		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.341C>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.953054	0.92660	.	.	ENSG00000185950	ENST00000375856	T	0.74842	-0.88	3.33	3.33	0.38152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000002	T	0.77398	0.4124	L	0.31065	0.9	0.48975	D	0.99973	D	0.89917	1.0	D	0.91635	0.999	T	0.76623	-0.2891	10	0.36615	T	0.2	.	13.7259	0.62759	0.0:0.0:1.0:0.0	.	114	Q9Y4H2	IRS2_HUMAN	V	114	ENSP00000365016:A114V	ENSP00000365016:A114V	A	-	2	0	IRS2	109236061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.335000	0.90031	1.742000	0.51746	0.479000	0.44913	GCC		0.657	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		7	9	0	0	0	1	0	7	9					A	110438060	G	A	110438060	3	1	223	1	0	0	0	0	1	0	0	0	7841	1203	42	2	3683	2	IRS2	13	110438060	Missense_Mutation	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		110438060	4731818	10	3953											
GPR139	124274	broad.mit.edu	37	16	20084907	20084907	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr16:20084907T>A	ENST00000570682.1	-	1	332	c.32A>T	c.(31-33)aAc>aTc	p.N11I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	11					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CAGCGAGCTGTTGGCTGCGAG	0.697																																						uc002dgu.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(31-33)aAc>aTc		Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.							34	35	35					16																	20084907		2201	4299	6500	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20084907T>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.32A>T	16.37:g.20084907T>A	ENSP00000458791:p.Asn11Ile		Somatic				GPR139_uc010vaw.1_5'UTR	p.N11I	NM_001002911	NP_001002911	WXS	Illumina GAIIx	Phase_I	Q6DWJ6	GP139_HUMAN			0	194	-			11					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.32A>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776652	0.49786	.	.	ENSG00000180269	ENST00000326571	.	.	.	4.32	4.32	0.51571	.	0.067200	0.56097	D	0.000026	T	0.31451	0.0797	N	0.08118	0	0.37023	D	0.896304	B	0.09022	0.002	B	0.08055	0.003	T	0.30621	-0.9972	9	0.87932	D	0	-20.213	9.805	0.40789	0.0:0.0:0.0:1.0	.	11	Q6DWJ6	GP139_HUMAN	I	11	.	ENSP00000370779:N11I	N	-	2	0	GPR139	19992408	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.523000	0.35932	1.799000	0.52666	0.374000	0.22700	AAC		0.697	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		5	11	0	0	0	1	0	5	11					A	20084907	T	A	20084907	3	1	223	1	0	0	0	0	1	0	0	0	6648	1725	60	5	1037	5	GPR139	16	20084907	Missense_Mutation	SNP	T	TCGA-EL-A4KD-01A-11D-A257-08		20084907	70269846	11	3954											
NCOR1	9611	broad.mit.edu	37	17	15995328	15995328	+	Silent	SNP	G	G	A	rs375288132		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:15995328G>A	ENST00000268712.3	-	22	3122	c.2865C>T	c.(2863-2865)agC>agT	p.S955S	NCOR1_ENST00000395851.1_Silent_p.S971S|NCOR1_ENST00000395848.1_Silent_p.S862S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	955					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGCATAGCCGCTCACTGGGG	0.433																																						uc002gpo.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(2863-2865)agC>agT		Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.		G	,,	0,4406		0,0,2203	120	118	119		2586,2913,2865	-2.5	0.7	17		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR1	NM_001190438.1,NM_001190440.1,NM_006311.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	862/915,971/2338,955/2441	15995328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15995328G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2865C>T	17.37:g.15995328G>A			Somatic				NCOR1_uc002gpn.3_Silent_p.S971S|NCOR1_uc002gpp.1_Silent_p.S862S|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Silent_p.S862S	p.S955S	NM_006311	NP_006302	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	21	3134	-			955					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.2865C>T	CCDS11175.1																																																																																				0.433	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		7	86	0	0	0	1	0	7	86					A	15995328	G	A	15995328	2	1	223	1	0	0	0	0	0	0	0	1	10235	1078	38	1		1	NCOR1	17	15995328	Silent	SNP	G	TCGA-EL-A4KD-01A-11D-A257-08		15995328	65199882	12	3955											
SLC9A3R1	9368	broad.mit.edu	37	17	72759553	72759553	+	Silent	SNP	C	C	A	rs531304500		TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr17:72759553C>A	ENST00000262613.5	+	3	846	c.651C>A	c.(649-651)tcC>tcA	p.S217S	SLC9A3R1_ENST00000413388.2_Silent_p.S61S	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	217	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						ACGTGGTGTCCGCCATCAGGG	0.622																																						uc002jlo.3																			0				large_intestine(4)	4						c.(649-651)tcC>tcA		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.							61	55	57					17																	72759553		2201	4300	6501	SO:0001819	synonymous_variant	9368				Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association	g.chr17:72759553C>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.651C>A	17.37:g.72759553C>A			Somatic				SLC9A3R1_uc002jln.1_Non-coding_Transcript	p.S217S	NM_004252	NP_004243	WXS	Illumina GAIIx	Phase_I	O14745	NHRF1_HUMAN			2	874	+			217			PDZ 2.		B3KY21|O43552|Q86WQ5	Silent	SNP	ENST00000262613.5	37	c.651C>A	CCDS11705.1																																																																																				0.622	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			7	14	0	0	0	1	0	7	14					A	72759553	C	A	72759553	2	1	223	1	0	0	0	0	0	0	0	1	14714	639	23	4		4	SLC9A3R1	17	72759553	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	56764225	72759553	8435657	13	3956											
ECSIT	51295	broad.mit.edu	37	19	11618516	11618516	+	Splice_Site	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:11618516C>T	ENST00000270517.7	-	6	1081		c.e6+1		CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Intron|ZNF653_ENST00000293771.5_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000592312.1_Splice_Site|ECSIT_ENST00000591104.1_Splice_Site|ECSIT_ENST00000417981.2_Splice_Site	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator						BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TAAGCCCTCACCCTCTCCTCC	0.612																																						uc002msb.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.e6+1		Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							56	46	49					19																	11618516		2203	4300	6503	SO:0001630	splice_region_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618516C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.945+1G>A	19.37:g.11618516C>T			Somatic				ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Splice_Site_p.G275_splice|ECSIT_uc010dyd.3_Intron|ECSIT_uc010xma.2_Splice_Site_p.R101_splice	p.R315_splice	NM_016581	NP_057665	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			6	1079	-			315					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Splice_Site	SNP	ENST00000270517.7	37	c.945_splice	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662571	0.67700	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.52	0.84311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECSIT	11479516	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	7.224000	0.78042	2.165000	0.68154	0.491000	0.48974	.		0.612	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581	Intron	22	42	0	0	0	1	0	22	42					T	11618516	C	T	11618516	5	4	223	1	0	0	0	0	0	0	1	0	4900	521	18	2	361	2	ECSIT	19	11618516	Splice_Site	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		11618516	47510467	14	3957											
TMEM145	284339	broad.mit.edu	37	19	42821993	42821993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr19:42821993C>T	ENST00000301204.3	+	12	1074	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	TMEM145_ENST00000598766.1_Nonsense_Mutation_p.Q369*	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	345					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCTGAGAAGCAGCCTTTTTA	0.597																																						uc002otk.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1033-1035)Cag>Tag		Homo sapiens transmembrane protein 145 (TMEM145), mRNA.							192	154	167					19																	42821993		2203	4300	6503	SO:0001587	stop_gained	284339					integral to membrane		g.chr19:42821993C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1033C>T	19.37:g.42821993C>T	ENSP00000301204:p.Gln345*		Somatic					p.Q345*	NM_173633	NP_775904	WXS	Illumina GAIIx	Phase_I	Q8NBT3	TM145_HUMAN			11	1085	+		Prostate(69;0.00682)	345						Nonsense_Mutation	SNP	ENST00000301204.3	37	c.1033C>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864104	0.97043	.	.	ENSG00000167619	ENST00000301204	.	.	.	4.55	4.55	0.56014	.	0.324845	0.26594	N	0.023506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-23.4669	15.1796	0.72945	0.0:1.0:0.0:0.0	.	.	.	.	X	345	.	ENSP00000301204:Q345X	Q	+	1	0	TMEM145	47513833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.277000	0.72608	2.258000	0.74832	0.591000	0.81541	CAG		0.597	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		6	70	0	0	0	1	0	6	70					T	42821993	C	T	42821993	4	4	223	1	0	0	0	0	0	1	0	0	16056	711	25	2	1079	2	TMEM145	19	42821993	Nonsense_Mutation	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08	31203477	42821993	16306990	15	3958											
SEC14L2	23541	broad.mit.edu	37	22	30812008	30812008	+	Silent	SNP	C	C	T			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chr22:30812008C>T	ENST00000312932.9	+	10	1103	c.843C>T	c.(841-843)agC>agT	p.S281S	SEC14L2_ENST00000402592.3_Silent_p.S198S|SEC14L2_ENST00000405717.3_Silent_p.S281S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S|SEC14L2_ENST00000403484.1_Silent_p.S207S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	281	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557																																						uc003ahu.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.e5+1		Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 3, mRNA.	Vitamin E(DB00163)						101	89	93					22																	30812008		2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30812008C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.843C>T	22.37:g.30812008C>T			Somatic				SEC14L2_uc003ahq.3_Silent_p.S281S|SEC14L2_uc003ahr.3_Silent_p.S281S|SEC14L2_uc011aky.2_Silent_p.S198S|SEC14L2_uc011akx.2_Silent_p.S227S|SEC14L2_uc003ahs.3_Silent_p.S207S|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_Silent_p.S105S|SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron	p.S105_splice	NM_001204204	NP_001191133	WXS	Illumina GAIIx	Phase_I	O76054	S14L2_HUMAN			5	420	+			281			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Splice_Site	SNP	ENST00000312932.9	37	c.315_splice	CCDS13876.1																																																																																				0.557	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		21	53	0	0	0	1	0	21	53					T	30812008	C	T	30812008	2	4	223	1	0	0	0	0	0	0	0	1	13982	767	27	1		1	SEC14L2	22	30812008	Silent	SNP	C	TCGA-EL-A4KD-01A-11D-A257-08		30812008	20492558	16	3959											
MAGED1	9500	broad.mit.edu	37	X	51637442	51637442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:51637442delC	ENST00000375722.1	+	2	294	c.42delC	c.(40-42)ttcfs	p.F14fs	MAGED1_ENST00000326587.7_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000375695.2_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	14					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)					TCCTCGGCTTCCAGGTGAGAT	0.657										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dpn.3																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(40-42)ttcfs		Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.							27	24	25					X																	51637442		2203	4297	6500	SO:0001589	frameshift_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:51637442delC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.42delC	X.37:g.51637442delC	ENSP00000364874:p.Phe14fs	Multiple Myeloma(10;0.10)	Somatic	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	978	MAGED1_uc004dpm.3_Frame_Shift_Del_p.F14fs|MAGED1_uc004dpo.3_Frame_Shift_Del_p.F14fs|MAGED1_uc011mnx.1_Frame_Shift_Del_p.F14fs	p.F14fs	NM_001005333	NP_001005333	WXS	Illumina GAIIx	Phase_I	Q9Y5V3	MAGD1_HUMAN			1	232	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	c.42delC	CCDS14337.1																																																																																				0.657	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		2	4						2	4	---	---	---	---	-	51637442	C	-	51637442	7	5	223	1	0	1	0	1	0	0	0	0	9183	854	30	0	44	0	MAGED1	23	51637442	Frame_Shift_Del	DEL	C	TCGA-EL-A4KD-01A-11D-A257-08		51637442	103633118	17	3960											
ALG13	79868	broad.mit.edu	37	X	110951558	110951558	+	Silent	SNP	A	A	G			TCGA-EL-A4KD-01A-11D-A257-08	TCGA-EL-A4KD-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0776e078-b504-4671-ad37-47aa76f0489c	0424476f-de8a-4644-a8c1-2d301345473c	g.chrX:110951558A>G	ENST00000394780.3	+	4	699	c.687A>G	c.(685-687)ttA>ttG	p.L229L	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.L125L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	229	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TAGGCAGCTTAGGGCTGTTTC	0.453																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(685-687)ttA>ttG		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							126	109	115					X																	110951558		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	g.chrX:110951558A>G	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.687A>G	X.37:g.110951558A>G			Somatic				ALG13_uc011msw.2_Silent_p.L151L|ALG13_uc011msx.2_Silent_p.L125L|ALG13_uc011msz.2_Silent_p.L151L|ALG13_uc011mta.2_Silent_p.L125L|ALG13_uc011mtb.2_Silent_p.L125L	p.L229L	NM_001099922	NP_001093392	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			3	788	+			229					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.687A>G	CCDS55477.1																																																																																				0.453	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		9	56	0	0	0	1	0	9	56					G	110951558	A	G	110951558	2	3	223	1	0	0	0	0	0	0	0	1	515	417	15	3		3	ALG13	23	110951558	Silent	SNP	A	TCGA-EL-A4KD-01A-11D-A257-08	59314116	110951558	44319002	18	3961											
TAS1R3	83756	broad.mit.edu	37	1	1269281	1269281	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:1269281C>T	ENST00000339381.5	+	6	2028	c.1996C>T	c.(1996-1998)Ctg>Ttg	p.L666L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	666					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		AGAACTGCCTCTGAGCTGGGC	0.677																																						uc010nyk.2																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1996-1998)Ctg>Ttg		Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	Aspartame(DB00168)						27	29	28					1																	1269281		2200	4296	6496	SO:0001819	synonymous_variant	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269281C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1996C>T	1.37:g.1269281C>T			Somatic					p.L666L	NM_152228	NP_689414	WXS	Illumina GAIIx	Phase_I	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	5	1996	+	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)	666					Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	c.1996C>T	CCDS30556.1																																																																																				0.677	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			9	36	0	0	0	1	0	9	36					T	1269281	C	T	1269281	2	4	224	1	0	0	0	0	0	0	0	1	15561	912	32	2		2	TAS1R3	1	1269281	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		1269281	247981340	1	3962											
TAS1R1	80835	broad.mit.edu	37	1	6635194	6635194	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:6635194G>A	ENST00000333172.6	+	3	1195	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	TAS1R1_ENST00000328191.4_Silent_p.L334L|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	334					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGGCCTGAAGGCGTTTG	0.632																																						uc001ant.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1000-1002)ctG>ctA		Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.							36	39	38					1																	6635194		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6635194G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1002G>A	1.37:g.6635194G>A			Somatic				TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Silent_p.L256L	p.L334L	NM_138697	NP_619642	WXS	Illumina GAIIx	Phase_I	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	1098	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	334					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.1002G>A	CCDS81.1																																																																																				0.632	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			12	26	0	0	0	1	0	12	26					A	6635194	G	A	6635194	2	1	224	1	0	0	0	0	0	0	0	1	15559	1277	45	2		2	TAS1R1	1	6635194	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5365913	6635194	242615427	2	3963											
ZNF436	80818	broad.mit.edu	37	1	23688762	23688762	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:23688762G>A	ENST00000314011.4	-	4	1249	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ZNF436_ENST00000374608.3_Silent_p.F371F	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCTCCGGCTGAAGCTTTTCC	0.468																																						uc001bgt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1111-1113)ttC>ttT		Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.							100	99	99					1																	23688762		2203	4300	6503	SO:0001819	synonymous_variant	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23688762G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1113C>T	1.37:g.23688762G>A			Somatic				ZNF436_uc001bgu.3_Silent_p.F371F	p.F371F	NM_030634	NP_085137	WXS	Illumina GAIIx	Phase_I	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	2	1494	-		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)	371					Q658I9	Silent	SNP	ENST00000314011.4	37	c.1113C>T	CCDS233.1																																																																																				0.468	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		18	59	0	0	0	1	0	18	59					A	23688762	G	A	23688762	2	1	224	1	0	0	0	0	0	0	0	1	17906	1281	45	2		2	ZNF436	1	23688762	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	17053568	23688762	225561859	3	3964											
C1orf172	126695	broad.mit.edu	37	1	27278146	27278146	+	Silent	SNP	G	G	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:27278146G>T	ENST00000320567.5	-	2	814	c.726C>A	c.(724-726)ctC>ctA	p.L242L		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		242					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		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;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTGAAGATGAGCACATCAA	0.532																																						uc001bni.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(724-726)ctC>ctA		Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.							46	43	44					1																	27278146		2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27278146G>T																												ENST00000320567.5:c.726C>A	1.37:g.27278146G>T			Somatic				BC016143_uc021ojq.1_Intron	p.L242L	NM_152365	NP_689578	WXS	Illumina GAIIx	Phase_I	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	1	819	-		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)	242					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.726C>A	CCDS293.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481670	0.12581	.	.	ENSG00000175707	ENST00000374109	.	.	.	4.77	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.1392	0.03770	0.1842:0.284:0.4051:0.1266	.	.	.	.	X	203	.	ENSP00000363223:S203X	S	-	2	0	C1orf172	27150733	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	0.308000	0.19314	0.218000	0.20820	0.555000	0.69702	TCA		0.532	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			9	35	0	0	0	1	0	9	35					T	27278146	G	T	27278146	2	4	224	1	0	0	0	0	0	0	0	1	2013	1277	45	4		4	C1orf172	1	27278146	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	3589384	27278146	221972475	4	3965											
TMEM54	113452	broad.mit.edu	37	1	33363789	33363789	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:33363789G>C	ENST00000373463.3	-	2	267	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	TMEM54_ENST00000329151.5_Missense_Mutation_p.Q50E|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	50						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGCATCTTGAGGGGTGCCC	0.617																																						uc001bwi.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.(148-150)Caa>Gaa		Homo sapiens transmembrane protein 54 (TMEM54), mRNA.							132	98	110					1																	33363789		2203	4300	6503	SO:0001583	missense	113452					integral to membrane		g.chr1:33363789G>C		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.148C>G	1.37:g.33363789G>C	ENSP00000362562:p.Gln50Glu		Somatic				TMEM54_uc001bwj.1_Missense_Mutation_p.Q50E|TMEM54_uc001bwk.1_Missense_Mutation_p.Q50E	p.Q50E	NM_033504	NP_277039	WXS	Illumina GAIIx	Phase_I	Q969K7	TMM54_HUMAN			1	262	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	50					Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	ENST00000373463.3	37	c.148C>G	CCDS371.1	.	.	.	.	.	.	.	.	.	.	G	1.538	-0.542503	0.04053	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T;T	0.41065	1.01;1.01	5.26	3.31	0.37934	.	1.054500	0.07225	N	0.861450	T	0.36276	0.0961	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.004;0.042	B;B;B	0.25506	0.036;0.006;0.061	T	0.35176	-0.9799	10	0.33141	T	0.24	.	12.8304	0.57742	0.0:0.0:0.5444:0.4556	.	50;50;50	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	E	50	ENSP00000362562:Q50E;ENSP00000328630:Q50E	ENSP00000328630:Q50E	Q	-	1	0	TMEM54	33136376	0.219000	0.23619	0.001000	0.08648	0.008000	0.06430	1.981000	0.40628	0.647000	0.30713	0.655000	0.94253	CAA		0.617	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504		19	47	0	0	0	1	0	19	47					C	33363789	G	C	33363789	3	2	224	1	0	0	0	0	1	0	0	0	16177	1299	45	4	540	4	TMEM54	1	33363789	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6085643	33363789	215886832	5	3966											
ELOVL1	64834	broad.mit.edu	37	1	43829727	43829727	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:43829727G>A	ENST00000372458.3	-	8	817	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	ELOVL1_ENST00000413844.2_Missense_Mutation_p.H207Y|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	234					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGATGAGGTGAATAATGACT	0.478																																						uc001cjb.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(700-702)Cac>Tac		Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.							124	109	114					1																	43829727		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43829727G>A	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.700C>T	1.37:g.43829727G>A	ENSP00000361536:p.His234Tyr		Somatic				ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Missense_Mutation_p.H207Y	p.H234Y	NM_022821	NP_073732	WXS	Illumina GAIIx	Phase_I	Q9BW60	ELOV1_HUMAN			7	828	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	234					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.700C>T	CCDS485.1	.	.	.	.	.	.	.	.	.	.	G	5.976	0.364036	0.11296	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.20598	2.06;2.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.08846	0.0219	N	0.01431	-0.87	0.80722	D	1	B;B	0.15930	0.009;0.015	B;B	0.19946	0.007;0.027	T	0.23048	-1.0199	10	0.02654	T	1	-1.4123	19.819	0.96583	0.0:0.0:1.0:0.0	.	207;234	B4DP24;Q9BW60	.;ELOV1_HUMAN	Y	234;207	ENSP00000361536:H234Y;ENSP00000416024:H207Y	ENSP00000361536:H234Y	H	-	1	0	ELOVL1	43602314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.688000	0.91661	0.591000	0.81541	CAC		0.478	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		15	43	0	0	0	1	0	15	43					A	43829727	G	A	43829727	3	1	224	1	0	0	0	0	1	0	0	0	5073	1290	45	2	143	2	ELOVL1	1	43829727	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	10465938	43829727	205420894	6	3967											
ANKRD35	148741	broad.mit.edu	37	1	145555755	145555755	+	Missense_Mutation	SNP	C	C	T	rs201747548		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:145555755C>T	ENST00000355594.4	+	2	190	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	ANKRD35_ENST00000544626.1_Missense_Mutation_p.R35C	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	35										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGTGGGACGCGTGGCTGC	0.602																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(103-105)Cgc>Tgc		Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	68	68	68		103	4.9	1.0	1		68	0,8600		0,0,4300	no	missense	ANKRD35	NM_144698.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	35/1002	145555755	1,13005	2203	4300	6503	SO:0001583	missense	148741							g.chr1:145555755C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.103C>T	1.37:g.145555755C>T	ENSP00000347802:p.Arg35Cys		Somatic				ANKRD35_uc010oyx.1_5'UTR	p.R35C	NM_144698	NP_653299	WXS	Illumina GAIIx	Phase_I	Q8N283	ANR35_HUMAN			1	211	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		35					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.103C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219169	0.79464	2.27E-4	0.0	ENSG00000198483	ENST00000355594;ENST00000544626	T;T	0.62232	0.04;0.04	5.84	4.93	0.64822	Ankyrin repeat-containing domain (4);	0.000000	0.49916	D	0.000137	T	0.26557	0.0649	N	0.10972	0.075	0.46011	D	0.998816	B	0.29627	0.252	B	0.26614	0.071	T	0.33548	-0.9864	10	0.87932	D	0	-4.847	11.1709	0.48571	0.0:0.9155:0.0:0.0845	.	35	Q8N283	ANR35_HUMAN	C	35	ENSP00000347802:R35C;ENSP00000442671:R35C	ENSP00000347802:R35C	R	+	1	0	ANKRD35	144267112	0.567000	0.26626	0.995000	0.50966	0.932000	0.56968	0.758000	0.26447	1.479000	0.48272	0.655000	0.94253	CGC		0.602	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		14	26	0	0	0	1	0	14	26					T	145555755	C	T	145555755	3	4	224	1	0	0	0	0	1	0	0	0	664	536	19	1	109	1	ANKRD35	1	145555755	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	101726028	145555755	103694866	7	3968											
PI4KB	5298	broad.mit.edu	37	1	151265367	151265367	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:151265367G>C	ENST00000368873.1	-	12	2580	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L	PI4KB_ENST00000271657.5_Silent_p.L816L|PI4KB_ENST00000368875.2_Silent_p.L816L|PI4KB_ENST00000529142.1_Silent_p.L472L|PI4KB_ENST00000368874.4_Silent_p.L789L|PI4KB_ENST00000368872.1_Silent_p.L789L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	804					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCGTCATAGAGTTTGGTGG	0.587																																					Colon(154;765 1838 9854 28443 37492)	uc001exr.3																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2446-2448)ctC>ctG		Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.							147	140	142					1																	151265367		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265367G>C	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2412C>G	1.37:g.151265367G>C			Somatic				PI4KB_uc001exs.3_Silent_p.L789L|PI4KB_uc001exu.3_Silent_p.L789L|PI4KB_uc010pcw.2_Silent_p.L472L|PI4KB_uc001ext.3_Silent_p.L804L	p.L816L	NM_002651	NP_001185704	WXS	Illumina GAIIx	Phase_I	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	3087	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		804					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2448C>G																																																																																					0.587	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		14	50	0	0	0	1	0	14	50					C	151265367	G	C	151265367	2	2	224	1	0	0	0	0	0	0	0	1	11874	929	33	4		4	PI4KB	1	151265367	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5709612	151265367	97985254	8	3969											
RPTN	126638	broad.mit.edu	37	1	152127926	152127926	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152127926G>A	ENST00000316073.3	-	3	1713	c.1649C>T	c.(1648-1650)aCa>aTa	p.T550I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	550	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						TTGTCTGTCTGTCTGACCATA	0.522																																						uc001ezs.1																			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.(1648-1650)aCa>aTa		Homo sapiens repetin (RPTN), mRNA.							730	646	672					1																	152127926		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127926G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1649C>T	1.37:g.152127926G>A	ENSP00000317895:p.Thr550Ile		Somatic					p.T550I	NM_001122965	NP_001116437	WXS	Illumina GAIIx	Phase_I	Q6XPR3	RPTN_HUMAN			2	1714	-			550			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1649C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	7.729	0.698768	0.15106	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.14766	2.48	4.42	1.37	0.22104	.	0.566808	0.13306	N	0.397893	T	0.06142	0.0159	M	0.81942	2.565	0.09310	N	1	B	0.19706	0.038	B	0.12156	0.007	T	0.31916	-0.9926	10	0.40728	T	0.16	0.1957	5.7557	0.18172	0.1903:0.1601:0.6496:0.0	.	550	Q6XPR3	RPTN_HUMAN	I	550;205	ENSP00000317895:T550I	ENSP00000317895:T550I	T	-	2	0	RPTN	150394550	0.032000	0.19561	0.001000	0.08648	0.018000	0.09664	1.153000	0.31676	-0.016000	0.14127	-0.476000	0.04901	ACA		0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		37	702	0	0	0	1	0	37	702					A	152127926	G	A	152127926	3	1	224	1	0	0	0	0	1	0	0	0	13664	1377	48	2	709	2	RPTN	1	152127926	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	862559	152127926	97122695	9	3970											
RPTN	126638	broad.mit.edu	37	1	152129034	152129034	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr1:152129034G>A	ENST00000316073.3	-	3	605	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	181	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						TGATTGTGGTGAGAATCTCTG	0.458																																						uc001ezs.1																			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.(541-543)Cac>Tac		Homo sapiens repetin (RPTN), mRNA.							493	420	442					1																	152129034		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129034G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.541C>T	1.37:g.152129034G>A	ENSP00000317895:p.His181Tyr		Somatic					p.H181Y	NM_001122965	NP_001116437	WXS	Illumina GAIIx	Phase_I	Q6XPR3	RPTN_HUMAN			2	606	-			181			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.541C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629945	0.46944	.	.	ENSG00000215853	ENST00000316073	T	0.13778	2.56	5.17	0.583	0.17417	.	1.160040	0.06847	N	0.796661	T	0.03178	0.0093	M	0.73217	2.22	0.09310	N	1	P	0.40144	0.704	B	0.33521	0.165	T	0.39014	-0.9634	10	0.06494	T	0.89	-0.137	3.6988	0.08375	0.306:0.0:0.5266:0.1674	.	181	Q6XPR3	RPTN_HUMAN	Y	181	ENSP00000317895:H181Y	ENSP00000317895:H181Y	H	-	1	0	RPTN	150395658	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.013000	0.13310	0.127000	0.18452	-0.402000	0.06365	CAC		0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		77	307	0	0	0	1	0	77	307					A	152129034	G	A	152129034	3	1	224	1	0	0	0	0	1	0	0	0	13664	1290	45	2	1817	2	RPTN	1	152129034	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	1108	152129034	97121587	10	3971											
RHOQ	23433	broad.mit.edu	37	2	46803742	46803742	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:46803742G>C	ENST00000238738.4	+	4	728	c.409G>C	c.(409-411)Gat>Cat	p.D137H	RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	137					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGACTGAATGATATGAAAGA	0.318																																						uc002rva.3																			0				skin(2)	2						c.(409-411)Gat>Cat		Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.							87	92	90					2																	46803742		2203	4298	6501	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803742G>C	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"RAS-like, family 7, member A", "ras homolog gene family, member Q"	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.409G>C	2.37:g.46803742G>C	ENSP00000238738:p.Asp137His		Somatic				BC048424_uc002rvb.3_Intron	p.D137H	NM_012249	NP_036381	WXS	Illumina GAIIx	Phase_I	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		3	728	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	137					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.409G>C	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736178	0.69189	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	T;T	0.69806	-0.43;-0.43	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.38692	1.165	0.80722	D	1	D	0.63046	0.992	P	0.61201	0.885	T	0.76027	-0.3109	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	137	P17081	RHOQ_HUMAN	H	137;58	ENSP00000238738:D137H;ENSP00000428006:D58H	ENSP00000238738:D137H	D	+	1	0	RHOQ	46657246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.763000	0.85283	2.878000	0.98634	0.650000	0.86243	GAT		0.318	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		15	50	0	0	0	1	0	15	50					C	46803742	G	C	46803742	3	2	224	1	0	0	0	0	1	0	0	0	13342	1290	45	4	423	4	RHOQ	2	46803742	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		46803742	196395631	11	3972											
ETAA1	54465	broad.mit.edu	37	2	67632194	67632194	+	Silent	SNP	T	T	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:67632194T>C	ENST00000272342.5	+	5	2510	c.2380T>C	c.(2380-2382)Ttg>Ctg	p.L794L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	794						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAGAAGAAATTGAGTACTAA	0.328																																						uc002sdz.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2380-2382)Ttg>Ctg		Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.							46	47	47					2																	67632194		2202	4296	6498	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67632194T>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2380T>C	2.37:g.67632194T>C			Somatic					p.L794L	NM_019002	NP_061875	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			4	2519	+			794					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.2380T>C	CCDS1882.1																																																																																				0.328	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		20	33	0	0	0	1	0	20	33					C	67632194	T	C	67632194	2	2	224	1	0	0	0	0	0	0	0	1	5267	1490	52	3		3	ETAA1	2	67632194	Silent	SNP	T	TCGA-EL-A4KG-01A-11D-A257-08	20828452	67632194	175567179	12	3973											
TCF7L1	83439	broad.mit.edu	37	2	85532449	85532449	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr2:85532449G>A	ENST00000282111.3	+	8	1187	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	304	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCACCTCAGGGATCCCCCACC	0.627																																						uc002soy.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(910-912)ggG>ggA		Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.							79	77	78					2																	85532449		2203	4300	6503	SO:0001819	synonymous_variant	83439				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85532449G>A	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.912G>A	2.37:g.85532449G>A			Somatic					p.G304G	NM_031283	NP_112573	WXS	Illumina GAIIx	Phase_I	Q9HCS4	TF7L1_HUMAN			7	1137	+			304			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.912G>A	CCDS1971.1																																																																																				0.627	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		22	55	0	0	0	1	0	22	55					A	85532449	G	A	85532449	2	1	224	1	0	0	0	0	0	0	0	1	15694	1161	41	2		2	TCF7L1	2	85532449	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	17900255	85532449	157666924	13	3974											
MST1	63891	broad.mit.edu	37	3	49724229	49724229	+	5'Flank	SNP	G	G	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:49724229G>T	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.L245L|MST1_ENST00000383728.3_Silent_p.L170L|MST1_ENST00000494828.2_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GACCTTGGTCGAGGAACCTGG	0.622																																						uc011bcs.1																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(730-732)tCg>tAg		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.							14	16	15					3																	49724229		2196	4296	6492	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724229G>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724229G>T	Exception_encountered		Somatic				MST1_uc003cxg.3_Silent_p.L245L|MST1_uc010hkx.2_Silent_p.L166L|MST1_uc011bct.1_Silent_p.L245L|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	p.S244*			WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	803	-			404			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Nonsense_Mutation	SNP	ENST00000327697.6	37	c.731C>A	CCDS33758.1																																																																																				0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		6	25	0	0	0	1	0	6	25					T	49724229	G	T	49724229	1	4	224	0	1	0	0	0	0	0	0	0	9890	1045	37	4		4	MST1	3	49724229	5'Flank	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		49724229	148298201	14	3975											
PHLDB2	90102	broad.mit.edu	37	3	111603725	111603725	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:111603725G>A	ENST00000431670.2	+	2	1212	c.801G>A	c.(799-801)ctG>ctA	p.L267L	PHLDB2_ENST00000478922.1_Silent_p.L267L|PHLDB2_ENST00000393925.3_Silent_p.L267L|PHLDB2_ENST00000412622.1_Silent_p.L267L|PHLDB2_ENST00000477695.1_Silent_p.L267L|PHLDB2_ENST00000393923.3_Silent_p.L294L|PHLDB2_ENST00000481953.1_Silent_p.L267L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	267						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGAACCAGCTGACACCTCTCA	0.478																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(799-801)ctG>ctA		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							59	58	58					3																	111603725		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603725G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.801G>A	3.37:g.111603725G>A			Somatic				PHLDB2_uc003dyc.3_Silent_p.L294L|PHLDB2_uc003dyd.3_Silent_p.L267L|PHLDB2_uc003dyg.3_Silent_p.L267L|PHLDB2_uc003dyh.3_Silent_p.L267L|PHLDB2_uc003dye.4_Silent_p.L267L|PHLDB2_uc003dyf.4_Silent_p.L267L	p.L267L	NM_001134438	NP_001127911	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			1	1212	+			267					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.801G>A	CCDS46886.1																																																																																				0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		18	37	0	0	0	1	0	18	37					A	111603725	G	A	111603725	2	1	224	1	0	0	0	0	0	0	0	1	11852	1277	45	2		2	PHLDB2	3	111603725	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	61879496	111603725	86418705	15	3976											
BCL6	604	broad.mit.edu	37	3	187443336	187443336	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr3:187443336G>C	ENST00000406870.2	-	8	2156	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	BCL6_ENST00000450123.2_Missense_Mutation_p.S541C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S597C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	597					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|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 isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTTCTCTCCAGAGTGAATTCG	0.572			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	uc003frp.3				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1789-1791)tCt>tGt		Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.							118	123	122					3																	187443336		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187443336G>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1790C>G	3.37:g.187443336G>C	ENSP00000384371:p.Ser597Cys		Somatic				LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.S541C|BCL6_uc010hza.2_Missense_Mutation_p.S495C|BCL6_uc003frq.2_Missense_Mutation_p.S597C	p.S597C	NM_001130845	NP_001697	WXS	Illumina GAIIx	Phase_I	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	7	2247	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		597					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1790C>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307051	0.81247	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.19938	2.11;2.11;2.11	5.59	5.59	0.84812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.56769	1.78	0.58432	D	0.999994	D;P	0.89917	1.0;0.914	D;P	0.87578	0.998;0.665	T	0.34850	-0.9812	10	0.87932	D	0	.	18.5726	0.91142	0.0:0.0:1.0:0.0	.	541;597	B8PSA7;P41182	.;BCL6_HUMAN	C	597;597;541	ENSP00000384371:S597C;ENSP00000232014:S597C;ENSP00000413122:S541C	ENSP00000232014:S597C	S	-	2	0	BCL6	188926030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.619000	0.88677	0.655000	0.94253	TCT		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		19	66	0	0	0	1	0	19	66					C	187443336	G	C	187443336	3	2	224	1	0	0	0	0	1	0	0	0	1376	942	33	4	342	4	BCL6	3	187443336	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	75839611	187443336	10579094	16	3977											
GAK	2580	broad.mit.edu	37	4	853445	853445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr4:853445G>A	ENST00000314167.4	-	24	3342	c.3232C>T	c.(3232-3234)Cag>Tag	p.Q1078*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q999*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1078					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCCGGGTTCTGAGACTTGGTC	0.612																																						uc003gbm.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3232-3234)Cag>Tag		Homo sapiens cyclin G associated kinase (GAK), mRNA.							64	68	66					4																	853445		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:853445G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3232C>T	4.37:g.853445G>A	ENSP00000314499:p.Gln1078*		Somatic				GAK_uc003gbn.4_Nonsense_Mutation_p.Q999*|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Nonsense_Mutation_p.Q931*	p.Q1078*	NM_005255	NP_005246	WXS	Illumina GAIIx	Phase_I	O14976	GAK_HUMAN		Colorectal(103;0.219)	23	3431	-			1078					Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3232C>T	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.086510|5.086510	0.94100|0.94100	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	.|T	.|0.38722	.|1.12	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	0.222797|.	0.39759|.	N|.	0.001264|.	.|T	.|0.49150	.|0.1540	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64292	.|-0.6442	.|5	0.35671|0.72032	T|D	0.21|0.01	-28.9117|-28.9117	8.8497|8.8497	0.35192|0.35192	0.1046:0.0:0.8954:0.0|0.1046:0.0:0.8954:0.0	.|.	.|.	.|.	.|.	X|L	354;1078;999|197	.|ENSP00000426062:S197L	ENSP00000314499:Q1078X|ENSP00000426062:S197L	Q|S	-|-	1|2	0|0	GAK|GAK	843445|843445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.098000|5.098000	0.64548|0.64548	2.132000|2.132000	0.65825|0.65825	0.511000|0.511000	0.50034|0.50034	CAG|TCA		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		20	68	0	0	0	1	0	20	68					A	853445	G	A	853445	4	1	224	1	0	0	0	0	0	1	0	0	6195	1299	45	2	723	2	GAK	4	853445	Nonsense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		853445	190300831	17	3978											
RIOK2	55781	broad.mit.edu	37	5	96503564	96503564	+	Missense_Mutation	SNP	G	G	A	rs200897705		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr5:96503564G>A	ENST00000283109.3	-	8	1072	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.S335L	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	335	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATCTGAAAATGAGAATTCAGA	0.418																																						uc003kmz.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1003-1005)tCa>tTa		Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.							144	151	149					5																	96503564		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503564G>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1004C>T	5.37:g.96503564G>A	ENSP00000283109:p.Ser335Leu		Somatic				RIOK2_uc003kna.3_Missense_Mutation_p.S335L	p.S335L	NM_018343	NP_060813	WXS	Illumina GAIIx	Phase_I	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	7	1114	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	335			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.1004C>T	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551069	0.45383	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.22539	1.95;1.95	5.65	4.76	0.60689	.	1.259200	0.05024	N	0.473291	T	0.28300	0.0699	L	0.56769	1.78	0.09310	N	1	B;B	0.24823	0.112;0.003	B;B	0.19666	0.026;0.002	T	0.38757	-0.9646	10	0.34782	T	0.22	-3.8624	14.2482	0.66001	0.0:0.1503:0.8497:0.0	.	335;335	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	L	335	ENSP00000283109:S335L;ENSP00000420932:S335L	ENSP00000283109:S335L	S	-	2	0	RIOK2	96529320	0.156000	0.22821	0.005000	0.12908	0.254000	0.26022	3.609000	0.54117	1.336000	0.45506	0.460000	0.39030	TCA		0.418	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		28	122	0	0	0	1	0	28	122					A	96503564	G	A	96503564	3	1	224	1	0	0	0	0	1	0	0	0	13378	1294	45	2	694	2	RIOK2	5	96503564	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		96503564	84411696	18	3979											
DST	667	broad.mit.edu	37	6	56397207	56397207	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56397207C>G	ENST00000361203.3	-	60	16417	c.16410G>C	c.(16408-16410)aaG>aaC	p.K5470N	DST_ENST00000244364.6_Missense_Mutation_p.K3058N|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.K3384N|DST_ENST00000370769.4_Missense_Mutation_p.K5472N|DST_ENST00000370754.5_Missense_Mutation_p.K5650N|DST_ENST00000446842.2_Missense_Mutation_p.K5146N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.K3384N			Q03001	DYST_HUMAN	dystonin	5470					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTCAAAATCTTCACTTTAT	0.398																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(9172-9174)aaG>aaC		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							106	95	99					6																	56397207		1855	4096	5951	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	g.chr6:56397207C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16410G>C	6.37:g.56397207C>G	ENSP00000354508:p.Lys5470Asn		Somatic					p.K3058N	NM_015548	NP_056363	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		44	9282	-	Lung NSC(77;0.103)		5470					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9174G>C		.	.	.	.	.	.	.	.	.	.	C	14.07	2.426416	0.43020	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.48	2.76	0.32466	.	0.000000	0.52532	D	0.000077	T	0.45377	0.1339	L	0.48642	1.525	0.28083	N	0.932106	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.999;1.0;0.998;0.999;0.976	T	0.46345	-0.9198	9	0.42905	T	0.14	.	10.4912	0.44752	0.0:0.7126:0.0:0.2874	.	3384;5472;5650;5470;3058	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	3058;5650;5472;3384;5146;3384;5470	ENSP00000244364:K3058N;ENSP00000359790:K5650N;ENSP00000359805:K5472N;ENSP00000400883:K3384N;ENSP00000393645:K5146N;ENSP00000359824:K3384N;ENSP00000354508:K5470N	ENSP00000244364:K3058N	K	-	3	2	DST	56505166	0.993000	0.37304	0.971000	0.41717	0.914000	0.54420	0.425000	0.21346	0.367000	0.24454	-0.300000	0.09419	AAG		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	27	0	0	0	1	0	4	27					G	56397207	C	G	56397207	3	3	224	1	0	0	0	0	1	0	0	0	4783	912	32	4	6501	4	DST	6	56397207	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		56397207	114717860	19	3980											
DST	667	broad.mit.edu	37	6	56438569	56438569	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:56438569C>G	ENST00000361203.3	-	47	12518	c.12511G>C	c.(12511-12513)Gac>Cac	p.D4171H	DST_ENST00000244364.6_Missense_Mutation_p.D1759H|DST_ENST00000370788.2_Missense_Mutation_p.D2085H|DST_ENST00000370769.4_Missense_Mutation_p.D4173H|DST_ENST00000370754.5_Missense_Mutation_p.D4351H|DST_ENST00000446842.2_Missense_Mutation_p.D3847H|DST_ENST00000312431.6_Missense_Mutation_p.D4171H|DST_ENST00000421834.2_Missense_Mutation_p.D2085H			Q03001	DYST_HUMAN	dystonin	4171					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCATCCAGTCCAGCATTTCA	0.403																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5275-5277)Gac>Cac		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							142	144	143					6																	56438569		1954	4146	6100	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	g.chr6:56438569C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12511G>C	6.37:g.56438569C>G	ENSP00000354508:p.Asp4171His		Somatic				DST_uc010kaa.1_Non-coding_Transcript	p.D1759H	NM_015548	NP_056363	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	5383	-	Lung NSC(77;0.103)		4171					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.5275G>C		.	.	.	.	.	.	.	.	.	.	C	15.64	2.892663	0.52121	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.83163	1.28;1.28;1.28;1.28;1.28;-1.69;1.28;1.28	5.95	2.97	0.34412	.	0.352724	0.23652	N	0.045905	T	0.79341	0.4429	L	0.46157	1.445	0.28698	N	0.904231	P;P;P;B;B	0.49961	0.836;0.859;0.93;0.257;0.011	B;P;P;B;B	0.62014	0.347;0.687;0.897;0.143;0.014	T	0.77563	-0.2541	9	0.44086	T	0.13	.	9.0829	0.36563	0.0:0.7403:0.1196:0.1401	.	2085;4173;4351;4171;1759	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	1759;4351;4173;2085;3847;4171;2085;4171	ENSP00000244364:D1759H;ENSP00000359790:D4351H;ENSP00000359805:D4173H;ENSP00000400883:D2085H;ENSP00000393645:D3847H;ENSP00000307959:D4171H;ENSP00000359824:D2085H;ENSP00000354508:D4171H	ENSP00000244364:D1759H	D	-	1	0	DST	56546528	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.884000	0.39668	0.318000	0.23185	0.650000	0.86243	GAC		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	52	0	0	0	1	0	16	52					G	56438569	C	G	56438569	3	3	224	1	0	0	0	0	1	0	0	0	4783	855	30	4	10452	4	DST	6	56438569	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	41362	56438569	114676498	20	3981											
TBX18	9096	broad.mit.edu	37	6	85472299	85472299	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:85472299C>T	ENST00000369663.5	-	2	797	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	154					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGCCTATCTCATGAAAGCGC	0.672																																						uc003pkl.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(460-462)Gag>Aag		Homo sapiens T-box 18 (TBX18), mRNA.							94	98	96					6																	85472299		2203	4299	6502	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472299C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.460G>A	6.37:g.85472299C>T	ENSP00000358677:p.Glu154Lys		Somatic				TBX18_uc010kbq.2_5'UTR	p.E154K	NM_001080508	NP_001073977	WXS	Illumina GAIIx	Phase_I	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	1	460	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	154					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.460G>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	37	6.132278	0.97310	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	T	0.80393	-1.37	5.74	5.74	0.90152	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.048279	0.85682	D	0.000000	T	0.80623	0.4658	L	0.42529	1.33	0.80722	D	1	D	0.60160	0.987	P	0.59056	0.851	T	0.75342	-0.3351	10	0.22109	T	0.4	.	19.9226	0.97093	0.0:1.0:0.0:0.0	.	154	O95935	TBX18_HUMAN	K	69;154	ENSP00000358677:E154K	ENSP00000358677:E154K	E	-	1	0	TBX18	85529018	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.843000	0.69424	2.720000	0.93068	0.561000	0.74099	GAG		0.672	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		25	97	0	0	0	1	0	25	97					T	85472299	C	T	85472299	3	4	224	1	0	0	0	0	1	0	0	0	15650	835	29	2	1391	2	TBX18	6	85472299	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	29033730	85472299	85642768	21	3982											
VTA1	51534	broad.mit.edu	37	6	142510607	142510607	+	Missense_Mutation	SNP	C	C	G	rs150897330	byFrequency	TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:142510607C>G	ENST00000367630.4	+	5	514	c.456C>G	c.(454-456)atC>atG	p.I152M	VTA1_ENST00000367621.1_Missense_Mutation_p.I94M|VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Missense_Mutation_p.I94M	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	152	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAACATACATCCATAATTGTT	0.343																																						uc003qiw.3																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(454-456)atC>atG		Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.							110	112	112					6																	142510607		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142510607C>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.456C>G	6.37:g.142510607C>G	ENSP00000356602:p.Ile152Met		Somatic				VTA1_uc011edu.2_Missense_Mutation_p.I94M	p.I152M	NM_016485	NP_057569	WXS	Illumina GAIIx	Phase_I	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	4	471	+	Breast(32;0.155)		152			Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.456C>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378253	0.61735	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.60299	0.2;0.2;0.2	5.46	0.341	0.15991	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.82923	2.615	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.85130	0.994;0.997	T	0.60424	-0.7266	10	0.51188	T	0.08	-12.7033	4.5264	0.11983	0.1489:0.4145:0.0:0.4366	.	94;152	E7ETQ7;Q9NP79	.;VTA1_HUMAN	M	152;94;94;153	ENSP00000356602:I152M;ENSP00000356593:I94M;ENSP00000395767:I94M	ENSP00000356593:I94M	I	+	3	3	VTA1	142552300	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.940000	0.28992	-0.020000	0.14032	0.557000	0.71058	ATC		0.343	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		27	38	0	0	0	1	0	27	38					G	142510607	C	G	142510607	3	3	224	1	0	0	0	0	1	0	0	0	17230	845	30	4	474	4	VTA1	6	142510607	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	57038308	142510607	28604460	22	3983											
TAGAP	117289	broad.mit.edu	37	6	159457891	159457891	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr6:159457891G>C	ENST00000367066.3	-	10	1495	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	TAGAP_ENST00000326965.6_Silent_p.L210L|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	388					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)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCGGCTCTCGAGGCACTCCT	0.587																																						uc003qrz.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1162-1164)ctC>ctG		Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.							45	47	46					6																	159457891		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457891G>C	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1164C>G	6.37:g.159457891G>C			Somatic				TAGAP_uc011eft.2_Silent_p.L325L|TAGAP_uc003qsa.3_Silent_p.L210L	p.L388L	NM_054114	NP_687034	WXS	Illumina GAIIx	Phase_I	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	9	1496	-		Breast(66;0.000776)|Ovarian(120;0.0303)	388					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1164C>G	CCDS5261.1																																																																																				0.587	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		13	46	0	0	0	1	0	13	46					C	159457891	G	C	159457891	2	2	224	1	0	0	0	0	0	0	0	1	15534	1045	37	4		4	TAGAP	6	159457891	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	16947284	159457891	11657176	23	3984											
MUC17	140453	broad.mit.edu	37	7	100695160	100695160	+	Silent	SNP	C	C	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:100695160C>A	ENST00000306151.4	+	9	13084	c.13020C>A	c.(13018-13020)atC>atA	p.I4340I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4340					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)					CATACTGCATCAGCCCCTGTG	0.577																																						uc003uxp.1																			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.(13018-13020)atC>atA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							183	162	169					7																	100695160		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100695160C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13020C>A	7.37:g.100695160C>A			Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.I4340I	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			8	13073	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4340					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13020C>A	CCDS34711.1																																																																																				0.577	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		26	109	0	0	0	1	0	26	109					A	100695160	C	A	100695160	2	1	224	1	0	0	0	0	0	0	0	1	9974	816	29	4		4	MUC17	7	100695160	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		100695160	58443503	24	3985											
TRIM24	8805	broad.mit.edu	37	7	138258373	138258373	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:138258373C>T	ENST00000343526.4	+	12	2215	c.2000C>T	c.(1999-2001)tCt>tTt	p.S667F	TRIM24_ENST00000415680.2_Missense_Mutation_p.S633F			O15164	TIF1A_HUMAN	tripartite motif containing 24	667					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TCAGTGCCATCTCCAGGCCTT	0.398																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.3																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1999-2001)tCt>tTt		Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.							116	109	112					7																	138258373		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138258373C>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2000C>T	7.37:g.138258373C>T	ENSP00000340507:p.Ser667Phe		Somatic				TRIM24_uc003vub.3_Missense_Mutation_p.S633F	p.S667F	NM_015905	NP_056989	WXS	Illumina GAIIx	Phase_I	O15164	TIF1A_HUMAN			11	2215	+			667					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2000C>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455246	0.84209	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.81330	-1.37;-1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.85130	0.982;0.997	D	0.85455	0.1163	10	0.51188	T	0.08	-18.3868	19.0964	0.93253	0.0:1.0:0.0:0.0	.	667;633	O15164;O15164-2	TIF1A_HUMAN;.	F	667;578;633	ENSP00000340507:S667F;ENSP00000390829:S633F	ENSP00000340507:S667F	S	+	2	0	TRIM24	137908913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.063000	0.64332	2.595000	0.87683	0.563000	0.77884	TCT		0.398	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		14	54	0	0	0	1	0	14	54					T	138258373	C	T	138258373	3	4	224	1	0	0	0	0	1	0	0	0	16495	913	32	2	2046	2	TRIM24	7	138258373	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	37563213	138258373	20880290	25	3986											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	41	0	0	0	1	0	22	41					T	140453136	A	T	140453136	3	4	224	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4KG-01A-11D-A257-08	2194763	140453136	18685527	26	3987											
MLL3	58508	broad.mit.edu	37	7	151856077	151856077	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:151856077C>G	ENST00000262189.6	-	44	11759	c.11541G>C	c.(11539-11541)aaG>aaC	p.K3847N	KMT2C_ENST00000355193.2_Missense_Mutation_p.K3847N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3847					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)										TTCGCTGTTTCTTGGTTTCAC	0.458																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(11539-11541)aaG>aaC		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							234	208	217					7																	151856077		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151856077C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11541G>C	7.37:g.151856077C>G	ENSP00000262189:p.Lys3847Asn		Somatic				MLL3_uc003wkz.3_Missense_Mutation_p.K2908N|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Missense_Mutation_p.K1356N	p.K3847N	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	11760	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3847					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.11541G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.07|17.07	3.294222|3.294222	0.60086|0.60086	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.90900	.|-1.98;-1.98;-2.75	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.45606	.|U	.|0.000341	D|D	0.94251|0.94251	0.8154|0.8154	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.80764	.|0.994;0.964;0.975	D|D	0.93034|0.93034	0.6451|0.6451	5|10	.|0.38643	.|T	.|0.18	.|.	14.1122|14.1122	0.65129|0.65129	0.0:0.9279:0.0:0.072|0.0:0.9279:0.0:0.072	.|.	.|3847;2908;3847	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	Q|N	1353|3847;3847;433	.|ENSP00000262189:K3847N;ENSP00000347325:K3847N;ENSP00000410411:K433N	.|ENSP00000262189:K3847N	E|K	-|-	1|3	0|2	MLL3|MLL3	151487010|151487010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.908000|3.908000	0.56355|0.56355	2.777000|2.777000	0.95525|0.95525	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	98	0	0	0	1	0	27	98					G	151856077	C	G	151856077	3	3	224	1	0	0	0	0	1	0	0	0	9622	912	32	4	3258	4	MLL3	7	151856077	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	11402941	151856077	7282586	27	3988											
NCAPG2	54892	broad.mit.edu	37	7	158478911	158478911	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr7:158478911C>G	ENST00000409423.1	-	9	962	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NCAPG2_ENST00000356309.3_Missense_Mutation_p.E264Q|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E264Q|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E264Q|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E56Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	264					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAATAAATTTCTGCAATGTAT	0.254																																						uc011kwe.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(790-792)Gaa>Caa		Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.							31	31	31					7																	158478911		1780	4041	5821	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158478911C>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.790G>C	7.37:g.158478911C>G	ENSP00000386569:p.Glu264Gln		Somatic				NCAPG2_uc010lqu.1_Missense_Mutation_p.E56Q|NCAPG2_uc003wnx.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnv.1_Missense_Mutation_p.E264Q|NCAPG2_uc003wnw.1_Non-coding_Transcript	p.E264Q	NM_017760	NP_060230	WXS	Illumina GAIIx	Phase_I	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	7	935	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	264					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.790G>C	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.947586|3.947586	0.73787|0.73787	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727|ENST00000441982	T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Armadillo-type fold (1);|.	0.147419|.	0.64402|.	D|.	0.000011|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.79108|.	0.986;0.961;0.992|.	T|T	0.74080|0.74080	-0.3780|-0.3780	10|5	0.42905|.	T|.	0.14|.	-15.0116|-15.0116	17.3635|17.3635	0.87357|0.87357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	264;56;264|.	Q86XI2-2;E7EUH9;Q86XI2|.	.;.;CNDG2_HUMAN|.	Q|H	264;264;56;264;264|65	ENSP00000348657:E264Q;ENSP00000386569:E264Q;ENSP00000275830:E56Q;ENSP00000387007:E264Q;ENSP00000388326:E264Q|.	ENSP00000275830:E56Q|.	E|Q	-|-	1|3	0|2	NCAPG2|NCAPG2	158171672|158171672	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.965000|0.965000	0.64279|0.64279	5.262000|5.262000	0.65501|0.65501	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.254	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		12	19	0	0	0	1	0	12	19					G	158478911	C	G	158478911	3	3	224	1	0	0	0	0	1	0	0	0	10208	922	32	4	2725	4	NCAPG2	7	158478911	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	6622834	158478911	659752	28	3989											
C8orf38	137682	broad.mit.edu	37	8	96044311	96044311	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr8:96044311G>A	ENST00000396124.4	+	2	309	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E44K|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.W2*|NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.W2*	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	96					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)										CTTTAATGTGGAACTGGCTCA	0.383																																						uc003yhj.3																			0											c.(286-288)Gaa>Aaa		Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.							94	97	96					8																	96044311		2203	4300	6503	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96044311G>A	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.286G>A	8.37:g.96044311G>A	ENSP00000379430:p.Glu96Lys		Somatic				NDUFAF6_uc011lgs.2_Non-coding_Transcript|NDUFAF6_uc003yhi.3_Missense_Mutation_p.E44K|NDUFAF6_uc003yhk.3_Non-coding_Transcript	p.E96K	NM_152416	NP_689629	WXS	Illumina GAIIx	Phase_I	Q330K2	CH038_HUMAN			1	309	+			96					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.286G>A	CCDS6266.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.262034|9.262034	0.99118|0.99118	.|.	.|.	ENSG00000156170|ENSG00000156170	ENST00000542894;ENST00000396124|ENST00000523378;ENST00000396113;ENST00000396111	D;D|.	0.84070|.	-1.8;-1.8|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Terpenoid synthase (2);|.	8.480580|.	0.01362|.	N|.	0.012288|.	D|.	0.85665|.	0.5749|.	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.996|.	D;D|.	0.79784|.	0.993;0.948|.	D|.	0.86981|.	0.2104|.	10|.	0.72032|0.42905	D|T	0.01|0.14	-16.0926|-16.0926	18.4087|18.4087	0.90543|0.90543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;44|.	Q330K2;Q330K2-2|.	CH038_HUMAN;.|.	K|X	44;96|2	ENSP00000444515:E44K;ENSP00000379430:E96K|.	ENSP00000379430:E96K|ENSP00000379417:W2X	E|W	+|+	1|3	0|0	C8orf38|C8orf38	96113487|96113487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.882000|8.882000	0.92420|0.92420	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.383	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		17	44	0	0	0	1	0	17	44					A	96044311	G	A	96044311	3	1	224	1	0	0	0	0	1	0	0	0	2424	1175	41	2	292	2	C8orf38	8	96044311	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		96044311	50319711	29	3990											
TRPM3	80036	broad.mit.edu	37	9	73461349	73461349	+	Silent	SNP	G	G	C	rs551795475		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:73461349G>C	ENST00000377111.2	-	4	864	c.621C>G	c.(619-621)ctC>ctG	p.L207L	TRPM3_ENST00000408909.2_Silent_p.L54L|TRPM3_ENST00000377110.3_Silent_p.L207L|TRPM3_ENST00000377097.3_Silent_p.L54L|TRPM3_ENST00000360823.2_Silent_p.L54L|TRPM3_ENST00000377106.1_Silent_p.L54L|TRPM3_ENST00000361823.5_Silent_p.L54L|TRPM3_ENST00000357533.2_Silent_p.L209L|TRPM3_ENST00000396285.1_Silent_p.L54L|TRPM3_ENST00000396280.5_Silent_p.L54L|TRPM3_ENST00000423814.3_Silent_p.L209L|TRPM3_ENST00000358082.3_Silent_p.L54L|TRPM3_ENST00000396283.1_Silent_p.L54L|TRPM3_ENST00000396292.4_Silent_p.L54L|TRPM3_ENST00000377105.1_Silent_p.L54L|TRPM3_ENST00000377101.1_Silent_p.L54L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	207					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGCTTTGATGAGCCCTTTCC	0.483																																						uc004aid.3																			0		p.A206S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(619-621)ctC>ctG		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							218	212	214					9																	73461349		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73461349G>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.621C>G	9.37:g.73461349G>C			Somatic				TRPM3_uc004ahu.3_Silent_p.L37L|TRPM3_uc004ahv.3_Silent_p.L37L|TRPM3_uc004ahw.3_Silent_p.L54L|TRPM3_uc004ahx.3_Silent_p.L54L|TRPM3_uc004ahy.3_Silent_p.L54L|TRPM3_uc004ahz.3_Silent_p.L54L|TRPM3_uc004aia.3_Silent_p.L54L|TRPM3_uc004aib.3_Silent_p.L54L|TRPM3_uc004aic.3_Silent_p.L207L|TRPM3_uc010mor.3_Silent_p.L207L|TRPM3_uc004aie.3_Silent_p.L54L|TRPM3_uc004aif.3_Silent_p.L54L|TRPM3_uc004aig.3_Silent_p.L54L|TRPM3_uc004aii.3_Silent_p.L209L	p.L207L	NM_001007471	NP_066003	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			3	865	-			207					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.621C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.005|9.005	0.980986|0.980986	0.18812|0.18812	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377097	.|.	.|.	.|.	5.86|5.86	1.54|1.54	0.23209|0.23209	.|.	.|.	.|.	.|.	.|.	T|.	0.42810|.	0.1219|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24621|.	-1.0155|.	4|.	.|.	.|.	.|.	-24.4484|-24.4484	1.5848|1.5848	0.02641|0.02641	0.2153:0.1145:0.4392:0.2311|0.2153:0.1145:0.4392:0.2311	.|.	.|.	.|.	.|.	D|X	54|97	.|.	.|.	H|S	-|-	1|2	0|0	TRPM3|TRPM3	72651169|72651169	0.944000|0.944000	0.32072|0.32072	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.010000|-0.010000	0.12743|0.12743	0.315000|0.315000	0.23110|0.23110	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.483	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		26	130	0	0	0	1	0	26	130					C	73461349	G	C	73461349	2	2	224	1	0	0	0	0	0	0	0	1	16584	1277	45	4		4	TRPM3	9	73461349	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		73461349	67752082	30	3991											
LAMC3	10319	broad.mit.edu	37	9	133936606	133936606	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr9:133936606G>C	ENST00000361069.4	+	13	2476	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	781	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCGGGCCAGAGAGGTAAGT	0.687																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(2341-2343)caG>caC		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							21	22	22					9																	133936606		2203	4299	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133936606G>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2343G>C	9.37:g.133936606G>C	ENSP00000354360:p.Gln781His		Somatic					p.Q781H	NM_006059	NP_006050	WXS	Illumina GAIIx	Phase_I	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	12	2441	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	781			Laminin EGF-like 7.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2343G>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181805	0.38511	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.61274	0.12	4.79	2.92	0.33932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.21194	0.64	0.40579	D	0.981371	B	0.24721	0.11	B	0.25759	0.063	T	0.21930	-1.0231	10	0.42905	T	0.14	.	5.2398	0.15465	0.1774:0.0:0.6618:0.1607	.	781	Q9Y6N6	LAMC3_HUMAN	H	781	ENSP00000354360:Q781H	ENSP00000347156:Q781H	Q	+	3	2	LAMC3	132926427	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.472000	0.35376	1.018000	0.39521	0.557000	0.71058	CAG		0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	17	0	0	0	1	0	3	17					C	133936606	G	C	133936606	3	2	224	1	0	0	0	0	1	0	0	0	8616	933	33	4	2393	4	LAMC3	9	133936606	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	60475257	133936606	7276825	31	3992											
NRP1	8829	broad.mit.edu	37	10	33510667	33510667	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:33510667A>G	ENST00000265371.4	-	9	1787	c.1262T>C	c.(1261-1263)gTa>gCa	p.V421A	NRP1_ENST00000395995.1_Missense_Mutation_p.V421A|NRP1_ENST00000374875.1_Missense_Mutation_p.V240A|NRP1_ENST00000374822.4_Missense_Mutation_p.V421A|NRP1_ENST00000374867.2_Missense_Mutation_p.V421A|NRP1_ENST00000374816.3_Missense_Mutation_p.V421A|NRP1_ENST00000374821.5_Missense_Mutation_p.V421A|NRP1_ENST00000374823.5_Missense_Mutation_p.V421A|NRP1_ENST00000432372.2_Missense_Mutation_p.V421A			O14786	NRP1_HUMAN	neuropilin 1	421	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCAACCGTATACTTCAAATCT	0.393																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1261-1263)gTa>gCa		Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	Palifermin(DB00039)|Pegaptanib(DB04895)						155	149	151					10																	33510667		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33510667A>G	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1262T>C	10.37:g.33510667A>G	ENSP00000265371:p.Val421Ala		Somatic				NRP1_uc001iwv.4_Missense_Mutation_p.V421A|NRP1_uc001iwy.4_Missense_Mutation_p.V421A|NRP1_uc009xlz.3_Missense_Mutation_p.V421A|NRP1_uc001iww.4_Missense_Mutation_p.V240A|NRP1_uc001iwz.2_Missense_Mutation_p.V421A|NRP1_uc001ixa.2_Missense_Mutation_p.V421A|NRP1_uc001ixb.2_Missense_Mutation_p.V421A|NRP1_uc001ixc.1_Missense_Mutation_p.V421A	p.V421A	NM_003873	NP_003864	WXS	Illumina GAIIx	Phase_I	O14786	NRP1_HUMAN			7	1785	-			421			F5/8 type C 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1262T>C	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.572593	0.86542	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.87	5.87	0.94306	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.103731	0.64402	D	0.000003	D	0.98601	0.9532	M	0.75447	2.3	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.46457	0.794;0.771;0.878;0.878;0.759;0.679;0.794;0.46;0.641	P;P;P;P;B;B;P;P;B	0.58077	0.764;0.781;0.832;0.827;0.315;0.35;0.764;0.453;0.382	D	0.99712	1.1007	10	0.87932	D	0	-24.9418	16.5764	0.84681	1.0:0.0:0.0:0.0	.	421;421;421;421;421;421;421;240;421	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	A	421;240;421;421;421;421;421;421;94	ENSP00000265371:V421A;ENSP00000364009:V240A;ENSP00000364001:V421A;ENSP00000379317:V421A;ENSP00000363955:V421A;ENSP00000363954:V421A;ENSP00000363956:V421A;ENSP00000363949:V421A;ENSP00000408911:V94A	ENSP00000265371:V421A	V	-	2	0	NRP1	33550673	1.000000	0.71417	0.928000	0.36995	0.941000	0.58515	8.902000	0.92568	2.371000	0.80710	0.533000	0.62120	GTA		0.393	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			38	72	0	0	0	1	0	38	72					G	33510667	A	G	33510667	3	3	224	1	0	0	0	0	1	0	0	0	10660	391	14	3	1560	3	NRP1	10	33510667	Missense_Mutation	SNP	A	TCGA-EL-A4KG-01A-11D-A257-08		33510667	102024080	32	3993											
AFAP1L2	84632	broad.mit.edu	37	10	116067643	116067643	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr10:116067643G>C	ENST00000304129.4	-	10	1022	c.993C>G	c.(991-993)ctC>ctG	p.L331L	AFAP1L2_ENST00000369271.3_Silent_p.L331L|AFAP1L2_ENST00000545353.1_Silent_p.L384L			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	331					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGCTCAGTTTGAGGCCAGCAG	0.483																																						uc010qse.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1150-1152)ctC>ctG		Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.							118	106	110					10																	116067643		2203	4300	6503	SO:0001819	synonymous_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity	g.chr10:116067643G>C	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.993C>G	10.37:g.116067643G>C			Somatic				AFAP1L2_uc001lbn.3_Silent_p.L331L|AFAP1L2_uc001lbo.3_Silent_p.L331L|AFAP1L2_uc001lbp.3_Silent_p.L359L|AFAP1L2_uc001lbr.1_Silent_p.L331L|AFAP1L2_uc010qsd.2_5'Flank	p.L384L	NM_001001936	NP_001001936	WXS	Illumina GAIIx	Phase_I	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	10	1453	-		Colorectal(252;0.175)|Breast(234;0.231)	331			PH 2.		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	ENST00000304129.4	37	c.1152C>G	CCDS31286.1																																																																																				0.483	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		7	43	0	0	0	1	0	7	43					C	116067643	G	C	116067643	2	2	224	1	0	0	0	0	0	0	0	1	355	1277	45	4		4	AFAP1L2	10	116067643	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	82556976	116067643	19467104	33	3994											
PGAP2	27315	broad.mit.edu	37	11	3845543	3845543	+	Silent	SNP	C	C	G	rs559872012		TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:3845543C>G	ENST00000463452.2	+	4	545	c.462C>G	c.(460-462)ctC>ctG	p.L154L	PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000496834.2_5'UTR|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000278243.4_Silent_p.L215L|PGAP2_ENST00000396986.2_Silent_p.L211L|PGAP2_ENST00000300730.6_Silent_p.L211L|PGAP2_ENST00000465307.2_Missense_Mutation_p.R158G|PGAP2_ENST00000396993.4_Missense_Mutation_p.R108G|PGAP2_ENST00000493547.2_Silent_p.L154L|PGAP2_ENST00000396991.2_Silent_p.L215L|PGAP2_ENST00000532017.1_3'UTR	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	154					GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCTCATCCCTCGGGCACATGC	0.562													C|||	1	0.000199681	0	0	5008	,	,		19404	0.001		0	False		,,,				2504	0					uc010qyb.2																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(472-474)Cgg>Ggg		Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.							210	163	179					11																	3845543		2201	4298	6499	SO:0001819	synonymous_variant	27315				GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity	g.chr11:3845543C>G	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"	615187	"mental retardation, non-syndromic, autosomal recessive, 21"	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.462C>G	11.37:g.3845543C>G			Somatic				PGAP2_uc001lyl.3_Silent_p.L172L|PGAP2_uc010qxy.2_Silent_p.L211L|PGAP2_uc010qxw.2_Silent_p.L272L|PGAP2_uc001lyn.4_Missense_Mutation_p.R108G|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc001lys.3_Silent_p.L215L|PGAP2_uc001lyt.3_5'UTR|PGAP2_uc021qcm.1_Silent_p.L154L	p.R158G	NM_014489	NP_055304	WXS	Illumina GAIIx	Phase_I	Q9UHJ9	PGAP2_HUMAN			5	610	+			0					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.472C>G	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.28|10.28	1.305505|1.305505	0.23736|0.23736	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396993;ENST00000532523;ENST00000465307|ENST00000459679;ENST00000464906;ENST00000464441	.|.	.|.	.|.	6.07|6.07	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.63402|0.63402	0.2508|0.2508	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.62497|0.62497	-0.6842|-0.6842	7|4	0.87932|.	D|.	0|.	-36.2598|-36.2598	12.4597|12.4597	0.55725|0.55725	0.0:0.5972:0.4028:0.0|0.0:0.5972:0.4028:0.0	.|.	158;108|.	B7Z2X5;A8MZF5|.	.;.|.	G|W	108;173;158|185;245;26	.|.	ENSP00000380190:R108G|.	R|S	+|+	1|2	2|0	PGAP2|PGAP2	3802119|3802119	0.983000|0.983000	0.35010|0.35010	0.905000|0.905000	0.35620|0.35620	0.832000|0.832000	0.47134|0.47134	1.980000|1.980000	0.40618|0.40618	1.565000|1.565000	0.49641|0.49641	-0.181000|-0.181000	0.13052|0.13052	CGG|TCG		0.562	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			24	64	0	0	0	1	0	24	64					G	3845543	C	G	3845543	2	3	224	1	0	0	0	0	0	0	0	1	11778	875	31	4		4	PGAP2	11	3845543	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		3845543	131160973	34	3995											
EXT2	2132	broad.mit.edu	37	11	44135735	44135735	+	Splice_Site	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:44135735G>A	ENST00000343631.3	+	4	756	c.627G>A	c.(625-627)agG>agA	p.R209R	EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000358681.4_Splice_Site_p.R209R|EXT2_ENST00000395673.3_Splice_Site_p.R242R|EXT2_ENST00000533608.1_Splice_Site_p.R209R			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	209					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTGCTTTCAGGGCCCTGTTGG	0.443			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													uc001mya.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.e4-1		Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.							121	112	115					11																	44135735		2203	4300	6503	SO:0001630	splice_region_variant	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity	g.chr11:44135735G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.627-1G>A	11.37:g.44135735G>A			Somatic				EXT2_uc010rfo.2_Splice_Site_p.R237_splice|EXT2_uc009ykt.3_Splice_Site_p.R209_splice|EXT2_uc001mxz.3_Splice_Site_p.R209_splice	p.R242_splice	NM_000401	NP_000392	WXS	Illumina GAIIx	Phase_I	Q93063	EXT2_HUMAN			4	782	+			209					B2R5Z6|C9JU51|J3KPT2|O15288	Splice_Site	SNP	ENST00000343631.3	37	c.726_splice	CCDS7908.1																																																																																				0.443	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401	Silent	7	108	0	0	0	1	0	7	108					A	44135735	G	A	44135735	5	1	224	1	0	0	0	0	0	0	1	0	5324	1246	43	2	740	2	EXT2	11	44135735	Splice_Site	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	40290192	44135735	90870781	35	3996											
DPP3	10072	broad.mit.edu	37	11	66264824	66264824	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:66264824G>C	ENST00000360510.2	+	16	1819	c.1754G>C	c.(1753-1755)gGa>gCa	p.G585A	DPP3_ENST00000531863.1_Missense_Mutation_p.G605A|DPP3_ENST00000541961.1_Missense_Mutation_p.G585A|DPP3_ENST00000530165.1_Missense_Mutation_p.G555A|DPP3_ENST00000453114.1_Missense_Mutation_p.G585A|DPP3_ENST00000532677.1_Missense_Mutation_p.G604A			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	585					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G585E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCTGGCGAGGGACTCGTTACC	0.622																																						uc001oig.1																			1	Substitution - Missense(1)	p.G585E(2)	breast(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1753-1755)gGa>gCa		Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.							55	56	56					11																	66264824		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66264824G>C	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1754G>C	11.37:g.66264824G>C	ENSP00000353701:p.Gly585Ala		Somatic				DPP3_uc001oif.1_Missense_Mutation_p.G585A|DPP3_uc010rpe.1_Missense_Mutation_p.G574A|BBS1_uc001oih.1_5'UTR	p.G585A	NM_005700	NP_569710	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			15	1816	+			585					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1754G>C	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736950	0.49045	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.85	5.85	0.93711	.	0.148161	0.64402	D	0.000010	T	0.34978	0.0916	L	0.55103	1.725	0.51767	D	0.99993	B;P	0.36616	0.233;0.561	B;P	0.47251	0.16;0.542	T	0.05632	-1.0873	10	0.49607	T	0.09	.	10.9891	0.47539	0.084:0.0:0.916:0.0	.	604;585	G3V1D3;Q9NY33	.;DPP3_HUMAN	A	605;604;585;585;585;555;483	ENSP00000432782:G605A;ENSP00000435284:G604A;ENSP00000353701:G585A;ENSP00000389943:G585A;ENSP00000440502:G585A;ENSP00000436941:G555A	ENSP00000353701:G585A	G	+	2	0	DPP3	66021400	1.000000	0.71417	0.998000	0.56505	0.465000	0.32709	5.666000	0.68059	2.767000	0.95098	0.655000	0.94253	GGA		0.622	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			29	49	0	0	0	1	0	29	49					C	66264824	G	C	66264824	3	2	224	1	0	0	0	0	1	0	0	0	4728	1174	41	4	1812	4	DPP3	11	66264824	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	22129089	66264824	68741692	36	3997											
C11orf51	25906	broad.mit.edu	37	11	71822277	71822277	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:71822277G>A	ENST00000227618.4	-	3	271	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	ANAPC15_ENST00000542531.1_Silent_p.L16L|ANAPC15_ENST00000538919.1_Silent_p.L16L|ANAPC15_ENST00000543050.1_Silent_p.L16L|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000535234.1_Silent_p.L16L|ANAPC15_ENST00000545680.1_Silent_p.L16L|ANAPC15_ENST00000535503.1_Silent_p.L16L|ANAPC15_ENST00000545944.1_Silent_p.L16L|ANAPC15_ENST00000538393.1_Silent_p.L16L|ANAPC15_ENST00000543587.1_Silent_p.L16L	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	16					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											TTAAACCACAGAGTCTCAGTC	0.512																																						uc001orv.3																			0				endometrium(1)	1						c.(46-48)Ctg>Ttg		Homo sapiens chromosome 11 open reading frame 51 (C11orf51), mRNA.							138	118	125					11																	71822277		2200	4293	6493	SO:0001819	synonymous_variant	25906					intracellular		g.chr11:71822277G>A	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.46C>T	11.37:g.71822277G>A			Somatic				C11orf51_uc009ytc.1_Intron|C11orf51_uc001orw.3_Silent_p.L16L	p.L16L	NM_014042	NP_054761	WXS	Illumina GAIIx	Phase_I	P60006	CK051_HUMAN			2	263	-			16					G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	ENST00000227618.4	37	c.46C>T	CCDS8210.1																																																																																				0.512	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		23	82	0	0	0	1	0	23	82					A	71822277	G	A	71822277	2	1	224	1	0	0	0	0	0	0	0	1	1646	933	33	2		2	C11orf51	11	71822277	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	5557453	71822277	63184239	37	3998											
FAT3	120114	broad.mit.edu	37	11	92533689	92533689	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr11:92533689G>A	ENST00000298047.6	+	9	7527	c.7510G>A	c.(7510-7512)Gag>Aag	p.E2504K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2354K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2504K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2504	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATACGTAGCTGAGGTGAGAGA	0.493										TCGA Ovarian(4;0.039)																												uc001pdj.4																			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.(7510-7512)Gag>Aag		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							78	76	77					11																	92533689		2061	4199	6260	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533689G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7510G>A	11.37:g.92533689G>A	ENSP00000298047:p.Glu2504Lys	TCGA Ovarian(4;0.039)	Somatic					p.E2504K	NM_001008781	NP_001008781	WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			8	7527	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2504			Cadherin 23.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7510G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.438207	0.83885	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53423	0.62;0.62;0.62	5.95	5.95	0.96441	.	.	.	.	.	T	0.56775	0.2008	L	0.43757	1.38	0.80722	D	1	D	0.61697	0.99	P	0.54664	0.758	T	0.46898	-0.9158	9	0.33940	T	0.23	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2504	Q8TDW7-3	.	K	2504;2504;2354	ENSP00000298047:E2504K;ENSP00000387040:E2504K;ENSP00000432586:E2354K	ENSP00000298047:E2504K	E	+	1	0	FAT3	92173337	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.869000	0.87170	2.824000	0.97209	0.655000	0.94253	GAG		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	31	0	0	0	1	0	11	31					A	92533689	G	A	92533689	3	1	224	1	0	0	0	0	1	0	0	0	5691	1291	45	2	7544	2	FAT3	11	92533689	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	20711412	92533689	42472827	38	3999											
C12orf51	283450	broad.mit.edu	37	12	112701951	112701951	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:112701951C>T	ENST00000430131.2	-	16	2534	c.1389G>A	c.(1387-1389)ttG>ttA	p.L463L	HECTD4_ENST00000550722.1_Silent_p.L751L|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Silent_p.L713L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	463					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAGGTTTAATCAAAATAGTGT	0.408																																						uc021reb.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						c.(2251-2253)ttG>ttA		Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.							113	86	95					12																	112701951		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112701951C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1389G>A	12.37:g.112701951C>T			Somatic				C12orf51_uc010syk.1_Silent_p.L286L|C12orf51_uc001tts.2_Silent_p.L286L|C12orf51_uc001ttt.3_Silent_p.L286L	p.L751L	NM_001109662	NP_001103132	WXS	Illumina GAIIx	Phase_I					16	2649	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.2253G>A																																																																																					0.408	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	12	0	0	0	1	0	4	12					T	112701951	C	T	112701951	2	4	224	1	0	0	0	0	0	0	0	1	1696	825	29	2		2	C12orf51	12	112701951	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		112701951	21149944	39	4000											
AACS	65985	broad.mit.edu	37	12	125612771	125612771	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr12:125612771G>C	ENST00000316519.6	+	13	1580	c.1374G>C	c.(1372-1374)gaG>gaC	p.E458D	AACS_ENST00000545511.1_Missense_Mutation_p.R38T|AACS_ENST00000261686.6_Missense_Mutation_p.E458D|AACS_ENST00000543665.1_5'Flank|AACS_ENST00000316543.10_Missense_Mutation_p.E56D	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	458					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATAAAGGGGAGATTCAGGCCC	0.512																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(1372-1374)gaG>gaC		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.							68	65	66					12																	125612771		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity	g.chr12:125612771G>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1374G>C	12.37:g.125612771G>C	ENSP00000324842:p.Glu458Asp		Somatic				AACS_uc001uhd.3_Missense_Mutation_p.E458D|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Missense_Mutation_p.E56D	p.E458D	NM_023928	NP_076417	WXS	Illumina GAIIx	Phase_I	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	12	1580	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		458					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.1374G>C	CCDS9263.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.81|18.81	3.702114|3.702114	0.68501|0.68501	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000545511	T;T;T;T;T|.	0.41065|.	1.01;1.01;2.84;1.01;2.84|.	4.65|4.65	1.2|1.2	0.21068|0.21068	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80778|0.80778	0.4688|0.4688	H|H	0.95470|0.95470	3.675|3.675	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.81586|0.81586	-0.0865|-0.0865	10|6	0.87932|0.87932	D|D	0|0	.|.	8.9071|8.9071	0.35530|0.35530	0.4303:0.0:0.5697:0.0|0.4303:0.0:0.5697:0.0	.|.	458;458|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	D|T	458;458;56;123;13|38	ENSP00000324842:E458D;ENSP00000261686:E458D;ENSP00000324929:E56D;ENSP00000441686:E123D;ENSP00000441331:E13D|.	ENSP00000261686:E458D|ENSP00000441387:R38T	E|R	+|+	3|2	2|0	AACS|AACS	124178724|124178724	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.947000|0.947000	0.59692|0.59692	2.539000|2.539000	0.45718|0.45718	0.379000|0.379000	0.24794|0.24794	0.313000|0.313000	0.20887|0.20887	GAG|AGA		0.512	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		7	20	0	0	0	1	0	7	20					C	125612771	G	C	125612771	3	2	224	1	0	0	0	0	1	0	0	0	9	933	33	4	1424	4	AACS	12	125612771	Missense_Mutation	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	12910820	125612771	8239124	40	4001											
C14orf145	145508	broad.mit.edu	37	14	81259151	81259151	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:81259151C>G	ENST00000555265.1	-	14	1888	c.1513G>C	c.(1513-1515)Gag>Cag	p.E505Q	CEP128_ENST00000281129.3_Missense_Mutation_p.E505Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	505						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GATTGTTTCTCCAACGCTCGT	0.418																																						uc001xux.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1513-1515)Gag>Cag		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							196	185	189					14																	81259151		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259151C>G	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1513G>C	14.37:g.81259151C>G	ENSP00000451162:p.Glu505Gln		Somatic				CEP128_uc010asz.2_Non-coding_Transcript	p.E505Q	NM_152446	NP_689659	WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			12	1684	-			505					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1513G>C	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145308	0.21288	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.37915	1.17;1.17	5.58	5.58	0.84498	.	0.129370	0.50627	D	0.000109	T	0.36826	0.0981	L	0.50333	1.59	0.80722	D	1	P	0.36199	0.543	B	0.37144	0.242	T	0.08249	-1.0731	10	0.17369	T	0.5	.	19.5769	0.95449	0.0:1.0:0.0:0.0	.	505	Q6ZU80	CE128_HUMAN	Q	505	ENSP00000281129:E505Q;ENSP00000451162:E505Q	ENSP00000281129:E505Q	E	-	1	0	CEP128	80328904	1.000000	0.71417	0.996000	0.52242	0.126000	0.20510	4.278000	0.58946	2.622000	0.88805	0.650000	0.86243	GAG		0.418	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		19	97	0	0	0	1	0	19	97					G	81259151	C	G	81259151	3	3	224	1	0	0	0	0	1	0	0	0	1749	864	30	4	1819	4	C14orf145	14	81259151	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		81259151	26090389	41	4002											
SERPINA9	327657	broad.mit.edu	37	14	94942490	94942490	+	5'Flank	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:94942490C>T	ENST00000380365.3	-	0	0				SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000546329.1_Silent_p.E34E|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000337425.5_Missense_Mutation_p.R7K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R7K			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						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)		ggttcctcttctcctgccctg	0.532																																						uc001ydf.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(19-21)aGa>aAa		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.							326	330	329					14																	94942490		2072	4217	6289	SO:0001631	upstream_gene_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94942490C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710		14.37:g.94942490C>T	Exception_encountered		Somatic				SERPINA9_uc001yde.3_Missense_Mutation_p.R7K|SERPINA9_uc010avc.3_5'UTR|SERPINA9_uc001ydg.3_Silent_p.E34E|SERPINA9_uc001ydh.1_Missense_Mutation_p.R7K|SERPINA9_uc001ydi.1_Silent_p.E34E	p.R7K	NM_175739	NP_783866	WXS	Illumina GAIIx	Phase_I	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	0	181	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	0					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.20G>A		.	.	.	.	.	.	.	.	.	.	C	8.750	0.921089	0.17982	.	.	ENSG00000170054	ENST00000298845;ENST00000337425	D;D	0.84516	-1.86;-1.77	2.0	2.0	0.26442	.	.	.	.	.	T	0.75428	0.3848	.	.	.	0.43073	D	0.994717	B;B	0.30211	0.273;0.273	B;B	0.21546	0.025;0.035	T	0.75230	-0.3391	8	0.62326	D	0.03	.	7.5365	0.27712	0.0:1.0:0.0:0.0	.	7;7	Q86WD7-7;Q86WD7-2	.;.	K	7	ENSP00000298845:R7K;ENSP00000337133:R7K	ENSP00000298845:R7K	R	-	2	0	SERPINA9	94012243	0.000000	0.05858	0.497000	0.27552	0.125000	0.20455	0.316000	0.19469	1.438000	0.47492	0.508000	0.49915	AGA		0.532	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		49	144	0	0	0	1	0	49	144					T	94942490	C	T	94942490	1	4	224	0	1	0	0	0	0	0	0	0	14095	913	32	2		2	SERPINA9	14	94942490	5'Flank	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	13683339	94942490	12407050	42	4003											
C14orf79	122616	broad.mit.edu	37	14	105455319	105455319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr14:105455319C>T	ENST00000547315.1	+	2	1102	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549240.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	155										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GTGTGCTTTTCAAGAAATAAC	0.383																																						uc001ypy.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(463-465)Caa>Taa		Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.							99	92	94					14																	105455319		1860	4095	5955	SO:0001587	stop_gained	122616							g.chr14:105455319C>T		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.463C>T	14.37:g.105455319C>T	ENSP00000450114:p.Gln155*		Somatic				C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	p.Q155*	NM_174891	NP_777551	WXS	Illumina GAIIx	Phase_I	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		1	616	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	155					B2RPK9|Q9BTP4	Nonsense_Mutation	SNP	ENST00000547315.1	37	c.463C>T	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	C	40	8.170074	0.98688	.	.	ENSG00000140104	ENST00000547315	.	.	.	4.57	4.57	0.56435	.	0.382961	0.18810	N	0.130556	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-7.1115	12.8783	0.58001	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000374614:Q155X	Q	+	1	0	C14orf79	104526364	0.981000	0.34729	0.998000	0.56505	0.166000	0.22503	1.954000	0.40362	2.098000	0.63641	0.563000	0.77884	CAA		0.383	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		29	49	0	0	0	1	0	29	49					T	105455319	C	T	105455319	4	4	224	1	0	0	0	0	0	1	0	0	1780	827	29	2	469	2	C14orf79	14	105455319	Nonsense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	10512829	105455319	1894221	43	4004											
CT62	196993	broad.mit.edu	37	15	71403760	71403760	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:71403760G>C	ENST00000449977.2	-	4	647	c.141C>G	c.(139-141)ctC>ctG	p.L47L	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_3'UTR	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	47										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGCATTCCAGAGTTCCTGGA	0.493																																						uc002ata.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(139-141)ctC>ctG		Homo sapiens cancer/testis antigen 62 (CT62), mRNA.							25	25	25					15																	71403760		1905	4121	6026	SO:0001819	synonymous_variant	196993							g.chr15:71403760G>C	BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.141C>G	15.37:g.71403760G>C			Somatic					p.L47L	NM_001102658	NP_001096128	WXS	Illumina GAIIx	Phase_I	P0C5K7	CT62_HUMAN			3	654	-			47						Silent	SNP	ENST00000449977.2	37	c.141C>G	CCDS45295.1																																																																																				0.493	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1	NM_001102658		6	11	0	0	0	1	0	6	11					C	71403760	G	C	71403760	2	2	224	1	0	0	0	0	0	0	0	1	3990	929	33	4		4	CT62	15	71403760	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		71403760	31127632	44	4005											
AKAP13	11214	broad.mit.edu	37	15	86205661	86205661	+	Intron	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr15:86205661G>C	ENST00000394518.2	+	13	4894				RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_Intron|AKAP13_ENST00000361243.2_Silent_p.L1596L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						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						CTGCTGGCCTGAGTGCTGACT	0.478																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blu.1																			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.(4786-4788)ctG>ctC		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.							186	176	179					15																	86205661		2202	4299	6501	SO:0001627	intron_variant	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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity	g.chr15:86205661G>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4800-2133G>C	15.37:g.86205661G>C			Somatic				AKAP13_uc002blt.1_Intron|AKAP13_uc002blv.1_Intron|AKAP13_uc010bnf.1_Intron|AKAP13_uc002blw.1_Intron|AKAP13_uc010bne.1_Intron	p.L1596L	NM_006738	NP_006729	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			11	4958	+			1596					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.4788G>C	CCDS32319.1																																																																																				0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		29	75	0	0	0	1	0	29	75					C	86205661	G	C	86205661	1	2	224	0	1	0	0	0	0	0	0	0	449	1277	45	4		4	AKAP13	15	86205661	Intron	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	14801901	86205661	16325731	45	4006											
ABCC12	94160	broad.mit.edu	37	16	48155668	48155668	+	Silent	SNP	C	C	T			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr16:48155668C>T	ENST00000311303.3	-	11	2016	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	ABCC12_ENST00000416054.1_Silent_p.V557V|ABCC12_ENST00000448542.1_Silent_p.V557V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	557	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTTTTCTCTCACATTTCCAT	0.433																																						uc002efc.1																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1669-1671)gtG>gtA		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.							86	73	77					16																	48155668		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48155668C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1671G>A	16.37:g.48155668C>T			Somatic				ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.V557V	p.V557V	NM_033226	NP_150229	WXS	Illumina GAIIx	Phase_I	Q96J65	MRP9_HUMAN			10	2017	-		all_cancers(37;0.0474)|all_lung(18;0.047)	557			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.1671G>A	CCDS10730.1																																																																																				0.433	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		14	35	0	0	0	1	0	14	35					T	48155668	C	T	48155668	2	4	224	1	0	0	0	0	0	0	0	1	52	813	29	2		2	ABCC12	16	48155668	Silent	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		48155668	42199085	46	4007											
P4HB	5034	broad.mit.edu	37	17	79804400	79804400	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr17:79804400C>G	ENST00000331483.4	-	7	1183	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Missense_Mutation_p.E277Q	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	321					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ATCTCCTCCTCCAGGGTGATG	0.577																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(961-963)Gag>Cag		Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.							109	83	92					17																	79804400		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79804400C>G	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.961G>C	17.37:g.79804400C>G	ENSP00000327801:p.Glu321Gln		Somatic				P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	p.E321Q	NM_000918	NP_000909	WXS	Illumina GAIIx	Phase_I	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		6	1158	-	all_neural(118;0.0878)|Ovarian(332;0.12)		321					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.961G>C	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.891015|4.891015	0.91889|0.91889	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593;ENST00000439918	T|.	0.14516|.	2.5|.	5.74|5.74	4.76|4.76	0.60689|0.60689	Thioredoxin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82412|0.82412	0.5031|0.5031	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	P|.	0.46395|.	0.877|.	P|.	0.59825|.	0.864|.	D|D	0.85338|0.85338	0.1094|0.1094	10|5	0.66056|.	D|.	0.02|.	.|.	16.8818|16.8818	0.86065|0.86065	0.0:0.8717:0.1283:0.0|0.0:0.8717:0.1283:0.0	.|.	321|.	P07237|.	PDIA1_HUMAN|.	Q|A	321;264;305|86;107	ENSP00000327801:E321Q|.	ENSP00000327801:E321Q|.	E|G	-|-	1|2	0|0	P4HB|P4HB	77397689|77397689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	6.002000|6.002000	0.70693|0.70693	1.411000|1.411000	0.46957|0.46957	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.577	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		20	59	0	0	0	1	0	20	59					G	79804400	C	G	79804400	3	3	224	1	0	0	0	0	1	0	0	0	11359	864	30	4	585	4	P4HB	17	79804400	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		79804400	1390810	47	4008											
C19orf55	126393	broad.mit.edu	37	19	36250713	36250713	+	5'Flank	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:36250713G>C	ENST00000592984.1	-	0	0				HSPB6_ENST00000587965.1_5'Flank|C19orf55_ENST00000544099.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000537459.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000536950.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000421853.2_Intron|HSPB6_ENST00000004982.3_5'Flank|C19orf55_ENST00000396908.4_Missense_Mutation_p.Q44H			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGTCTCAGAGATCCAGGC	0.577																																						uc021usz.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(130-132)caG>caC		Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.							32	35	34					19																	36250713		1914	4108	6022	SO:0001631	upstream_gene_variant	148137							g.chr19:36250713G>C	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"Heat shock proteins / HSPB"	26511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 91"	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36250713G>C	Exception_encountered		Somatic				HSPB6_uc002obn.1_5'Flank|C19orf55_uc002obo.1_Missense_Mutation_p.Q44H|C19orf55_uc002obp.3_Missense_Mutation_p.Q44H	p.Q44H	NM_001039887	NP_001034976	WXS	Illumina GAIIx	Phase_I	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	205	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		44					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.132G>C	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668305	0.47677	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T	0.34472	1.36	4.1	0.515	0.17013	.	0.596324	0.13000	N	0.421717	T	0.35038	0.0918	L	0.51422	1.61	0.09310	N	1	P;P;P	0.50943	0.94;0.94;0.94	P;P;P	0.51016	0.656;0.53;0.53	T	0.15009	-1.0452	10	0.42905	T	0.14	-2.325	2.7479	0.05272	0.2515:0.0:0.5242:0.2243	.	44;44;44	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	H	44	ENSP00000380116:Q44H	ENSP00000301165:Q44H	Q	+	3	2	C19orf55	40942553	0.000000	0.05858	0.702000	0.30337	0.907000	0.53573	0.373000	0.20484	0.473000	0.27368	0.467000	0.42956	CAG		0.577	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		3	3	0	0	0	1	0	3	3					C	36250713	G	C	36250713	1	2	224	0	1	0	0	0	0	0	0	0	1937	933	33	4		4	C19orf55	19	36250713	5'Flank	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		36250713	22878270	48	4009											
LIPE	3991	broad.mit.edu	37	19	42912472	42912472	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:42912472G>A	ENST00000244289.4	-	3	1698	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	474					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.F474L(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGGCAGGCGTGAACTGTGGAG	0.617																																						uc002otr.3																			1	Substitution - Missense(1)	p.F474L(2)	kidney(1)	breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1420-1422)ttC>ttT		Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.							121	111	115					19																	42912472		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912472G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1422C>T	19.37:g.42912472G>A			Somatic				AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.F219F	p.F474F	NM_005357	NP_005348	WXS	Illumina GAIIx	Phase_I	Q05469	LIPS_HUMAN			2	1699	-		Prostate(69;0.00682)	474					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1422C>T	CCDS12607.1																																																																																				0.617	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		25	82	0	0	0	1	0	25	82					A	42912472	G	A	42912472	2	1	224	1	0	0	0	0	0	0	0	1	8821	1281	45	2		2	LIPE	19	42912472	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6661759	42912472	16216511	49	4010											
LMTK3	114783	broad.mit.edu	37	19	49005818	49005818	+	Silent	SNP	G	G	C			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr19:49005818G>C	ENST00000600059.1	-	7	893	c.666C>G	c.(664-666)ctC>ctG	p.L222L	LMTK3_ENST00000270238.3_Silent_p.L251L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCTGGGCTCGGAGGTAACGCT	0.697																																						uc002pjk.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(751-753)ctC>ctG		Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.							17	21	20					19																	49005818		1999	4126	6125	SO:0001819	synonymous_variant	114783							g.chr19:49005818G>C	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.666C>G	19.37:g.49005818G>C			Somatic					p.L251L	NM_001080434	NP_001073903	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	7	753	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.753C>G																																																																																					0.697	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		5	22	0	0	0	1	0	5	22					C	49005818	G	C	49005818	2	2	224	1	0	0	0	0	0	0	0	1	8860	1161	41	4		4	LMTK3	19	49005818	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08	6093346	49005818	10123165	50	4011											
CHGB	1114	broad.mit.edu	37	20	5904455	5904455	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr20:5904455G>A	ENST00000378961.4	+	4	1869	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	555						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAATGAGCTGACCTTGAACG	0.453																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1663-1665)ctG>ctA		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							74	71	72					20																	5904455		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5904455G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1665G>A	20.37:g.5904455G>A			Somatic				CHGB_uc010zqz.2_Silent_p.L238L	p.L555L	NM_001819	NP_001810	WXS	Illumina GAIIx	Phase_I	P05060	SCG1_HUMAN			3	1971	+			555					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.1665G>A	CCDS13092.1																																																																																				0.453	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		20	55	0	0	0	1	0	20	55					A	5904455	G	A	5904455	2	1	224	1	0	0	0	0	0	0	0	1	3339	1277	45	2		2	CHGB	20	5904455	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		5904455	57121065	51	4012											
TSSK2	23617	broad.mit.edu	37	22	19118936	19118936	+	Silent	SNP	G	G	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chr22:19118936G>A	ENST00000399635.2	+	1	616	c.24G>A	c.(22-24)agG>agA	p.R8R	AC004471.10_ENST00000609936.1_lincRNA|DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	8					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGTCCTAAGGAAGAAGGGTT	0.542																																						uc002zow.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(22-24)agG>agA		Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.							68	55	59					22																	19118936		2203	4300	6503	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19118936G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.24G>A	22.37:g.19118936G>A			Somatic				DGCR14_uc002zou.3_3'UTR	p.R8R	NM_053006	NP_443732	WXS	Illumina GAIIx	Phase_I	Q96PF2	TSSK2_HUMAN			0	616	+	Colorectal(54;0.0993)		8					Q8IY55	Silent	SNP	ENST00000399635.2	37	c.24G>A	CCDS13755.1																																																																																				0.542	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			10	34	0	0	0	1	0	10	34					A	19118936	G	A	19118936	2	1	224	1	0	0	0	0	0	0	0	1	16666	1165	41	2		2	TSSK2	22	19118936	Silent	SNP	G	TCGA-EL-A4KG-01A-11D-A257-08		19118936	32185630	52	4013											
TMEM47	83604	broad.mit.edu	37	X	34648444	34648444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:34648444C>A	ENST00000275954.3	-	3	790	c.532G>T	c.(532-534)Gaa>Taa	p.E178*		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	178						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TAGTAGTCTTCATAGTTCTTA	0.398																																						uc004ddh.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(532-534)Gaa>Taa		Homo sapiens transmembrane protein 47 (TMEM47), mRNA.							158	140	146					X																	34648444		2202	4300	6502	SO:0001587	stop_gained	83604					integral to membrane		g.chrX:34648444C>A	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.532G>T	X.37:g.34648444C>A	ENSP00000275954:p.Glu178*		Somatic				TMEM47_uc010ngs.3_Non-coding_Transcript	p.E178*	NM_031442	NP_113630	WXS	Illumina GAIIx	Phase_I	Q9BQJ4	TMM47_HUMAN			2	791	-			178					Q5JR44	Nonsense_Mutation	SNP	ENST00000275954.3	37	c.532G>T	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	C	36	5.861323	0.97036	.	.	ENSG00000147027	ENST00000275954	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.45139	D	0.998157	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.7713	17.0295	0.86457	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000275954:E178X	E	-	1	0	TMEM47	34558365	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.438000	0.80431	2.231000	0.72958	0.415000	0.27848	GAA		0.398	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		19	48	0	0	0	1	0	19	48					A	34648444	C	A	34648444	4	1	224	1	0	0	0	0	0	1	0	0	16168	835	29	4	17	4	TMEM47	23	34648444	Nonsense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08		34648444	120622116	53	4014											
ATP11C	286410	broad.mit.edu	37	X	138871491	138871491	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4KG-01A-11D-A257-08	TCGA-EL-A4KG-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d51f96c1-4d44-41d5-b65a-9f997c677516	d725a9b8-181f-462f-88b8-73c73118a66d	g.chrX:138871491C>G	ENST00000327569.3	-	13	1470	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	ATP11C_ENST00000359686.2_Missense_Mutation_p.D458H|ATP11C_ENST00000361648.2_Missense_Mutation_p.D458H|ATP11C_ENST00000370557.1_Missense_Mutation_p.D455H|ATP11C_ENST00000370543.1_Missense_Mutation_p.D458H|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	458					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCACCTTATCTACTTTGTCA	0.318																																						uc004faz.3																			0		p.V457G(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1372-1374)Gat>Cat		Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.							127	105	113					X																	138871491		2203	4299	6502	SO:0001583	missense	286410				ATP biosynthetic process	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.chrX:138871491C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1372G>C	X.37:g.138871491C>G	ENSP00000332756:p.Asp458His		Somatic				ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.D458H	p.D458H	NM_173694	NP_775965	WXS	Illumina GAIIx	Phase_I	Q8NB49	AT11C_HUMAN			12	1471	-	Acute lymphoblastic leukemia(192;0.000127)		458					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1372G>C	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.430516|2.430516	0.43122|0.43122	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686|ENST00000422228	T;T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04;-0.04|.	5.7|5.7	5.7|5.7	0.88788|0.88788	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.861742|.	0.10536|.	N|.	0.663220|.	T|.	0.39963|.	0.1098|.	N|N	0.05050|0.05050	-0.12|-0.12	0.37707|0.37707	D|D	0.924448|0.924448	B;B|.	0.31026|.	0.259;0.304|.	B;B|.	0.32022|.	0.136;0.139|.	T|.	0.43893|.	-0.9363|.	10|.	0.30078|.	T|.	0.28|.	.|.	17.7536|17.7536	0.88442|0.88442	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;458|.	Q8NB49-3;Q8NB49|.	.;AT11C_HUMAN|.	H|Y	455;458;458;458;458|33	ENSP00000359588:D455H;ENSP00000355165:D458H;ENSP00000332756:D458H;ENSP00000359574:D458H;ENSP00000352715:D458H|.	ENSP00000332756:D458H|.	D|X	-|-	1|3	0|2	ATP11C|ATP11C	138699157|138699157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	3.000000|3.000000	0.49481|0.49481	2.411000|2.411000	0.81874|0.81874	0.529000|0.529000	0.55759|0.55759	GAT|TAG		0.318	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		8	32	0	0	0	1	0	8	32					G	138871491	C	G	138871491	3	3	224	1	0	0	0	0	1	0	0	0	1121	913	32	4	2161	4	ATP11C	23	138871491	Missense_Mutation	SNP	C	TCGA-EL-A4KG-01A-11D-A257-08	104223047	138871491	16399069	54	4015											
TAPBP	9278	broad.mit.edu	37	6	33281527	33281527	+	IGR	SNP	G	G	A			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr6:33281527G>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000456592.2_Missense_Mutation_p.P51L|TAPBP_ENST00000426633.2_Missense_Mutation_p.P51L|TAPBP_ENST00000475304.1_Missense_Mutation_p.P51L|TAPBP_ENST00000489157.1_Missense_Mutation_p.P51L|TAPBP_ENST00000434618.2_Missense_Mutation_p.P51L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						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(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGTTCCCCCGGTCCCTGGCG	0.672																																						uc003odz.3																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(151-153)cCg>cTg		Homo sapiens TAP binding protein (tapasin) (TAPBP), transcript variant 2, mRNA.							28	32	31					6																	33281527		2203	4291	6494	SO:0001628	intergenic_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|TAP1 binding|TAP2 binding|peptide antigen binding|peptide antigen-transporting ATPase activity|unfolded protein binding	g.chr6:33281527G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281527G>A			Somatic				TAPBP_uc003odx.2_Missense_Mutation_p.P51L|TAPBP_uc010jut.2_Missense_Mutation_p.P51L|TAPBP_uc003ody.3_Missense_Mutation_p.P51L|TAPBP_uc011drc.2_Missense_Mutation_p.P51L	p.P51L	NM_172208	NP_757345	WXS	Illumina GAIIx	Phase_I	O15533	TPSN_HUMAN			1	498	-			51					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.152C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	3.256	-0.152216	0.06585	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741	T;T;T;T;T	0.37915	1.49;1.47;1.17;1.45;1.49	4.15	3.28	0.37604	.	0.563887	0.18026	N	0.154062	T	0.23330	0.0564	M	0.67953	2.075	0.09310	N	0.999997	P;P;B;P;D;P	0.63880	0.91;0.569;0.384;0.91;0.993;0.854	B;B;B;B;P;B	0.44921	0.233;0.05;0.038;0.108;0.464;0.08	T	0.04140	-1.0974	10	0.48119	T	0.1	-19.0806	12.0883	0.53710	0.0:0.0:0.8271:0.1729	.	51;51;51;51;51;51	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	L	51	ENSP00000395701:P51L;ENSP00000417949:P51L;ENSP00000419659:P51L;ENSP00000404833:P51L;ENSP00000387803:P51L	ENSP00000404833:P51L	P	-	2	0	TAPBP	33389505	0.529000	0.26322	0.126000	0.21872	0.062000	0.15995	1.892000	0.39748	0.506000	0.28125	-1.624000	0.00789	CCG		0.672	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			7	42	0	0	0	1	0	7	42					A	33281527	G	A	33281527	1	1	225	0	1	0	0	0	0	0	0	0	15549	1116	39	1		1	TAPBP	6	33281527	IGR	SNP	G	TCGA-EL-A4KH-01A-11D-A257-08		33281527	137833540	1	4016											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	43	0	0	0	1	0	20	43					T	140453136	A	T	140453136	3	4	225	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EL-A4KH-01A-11D-A257-08		140453136	18685527	2	4017											
ZNF777	27153	broad.mit.edu	37	7	149152881	149152881	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr7:149152881C>A	ENST00000247930.4	-	2	556	c.233G>T	c.(232-234)gGa>gTa	p.G78V		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTGAGGGTCCCTTCTGGAG	0.602																																						uc003wfv.3																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(232-234)gGa>gTa		Homo sapiens zinc finger protein 777 (ZNF777), mRNA.							85	93	90					7																	149152881		1899	4120	6019	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152881C>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.233G>T	7.37:g.149152881C>A	ENSP00000247930:p.Gly78Val		Somatic					p.G78V	NM_015694	NP_056509	WXS	Illumina GAIIx	Phase_I	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		1	396	-	Melanoma(164;0.165)		78					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.233G>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852497	0.32699	.	.	ENSG00000196453	ENST00000247930	T	0.06528	3.29	4.66	2.41	0.29592	.	0.319902	0.22690	N	0.056825	T	0.04543	0.0124	N	0.24115	0.695	0.52099	D	0.999941	B	0.30634	0.288	B	0.31191	0.125	T	0.42172	-0.9467	10	0.87932	D	0	-6.0917	6.4182	0.21728	0.0:0.6907:0.1921:0.1172	.	78	Q9ULD5-2	.	V	78	ENSP00000247930:G78V	ENSP00000247930:G78V	G	-	2	0	ZNF777	148783814	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	1.632000	0.37102	0.932000	0.37266	0.462000	0.41574	GGA		0.602	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		43	74	0	0	0	1	0	43	74					A	149152881	C	A	149152881	3	1	225	1	0	0	0	0	1	0	0	0	18147	855	30	4	2282	4	ZNF777	7	149152881	Missense_Mutation	SNP	C	TCGA-EL-A4KH-01A-11D-A257-08	8699745	149152881	9985782	3	4018											
CACNA2D4	93589	broad.mit.edu	37	12	1993484	1993484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A4KH-01A-11D-A257-08	TCGA-EL-A4KH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f751da92-34f7-4f6b-93c8-1946d3e1e068	11398e17-c47c-4c24-852f-e642cf930718	g.chr12:1993484delG	ENST00000382722.5	-	12	1638	c.1276delC	c.(1276-1278)cgafs	p.R426fs	CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.R426fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.R362fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.R426fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.R362fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	426	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTGAAAACTCGGACCTAACCC	0.483																																					Colon(2;101 179 21030 23310 28141)	uc021qsx.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1276-1278)cgafs		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.							77	85	82					12																	1993484		2019	4188	6207	SO:0001589	frameshift_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1993484delG	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1276delC	12.37:g.1993484delG	ENSP00000372169:p.Arg426fs		Somatic				CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	p.R426fs	NM_172364	NP_758952	WXS	Illumina GAIIx	Phase_I	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	11	1507	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	426			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Frame_Shift_Del	DEL	ENST00000382722.5	37	c.1276delC	CCDS44785.1																																																																																				0.483	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			5	7						5	7	---	---	---	---	-	1993484	G	-	1993484	7	5	225	1	0	1	0	1	0	0	0	0	2551	1124	39	0	2245	0	CACNA2D4	12	1993484	Frame_Shift_Del	DEL	G	TCGA-EL-A4KH-01A-11D-A257-08		1993484	131858411	4	4019											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		95	49	0	0	0	1	0	95	49					C	115256529	T	C	115256529	3	2	226	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		115256529	133994092	1	4020											
PKP4	8502	broad.mit.edu	37	2	159481720	159481720	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:159481720G>T	ENST00000389759.3	+	7	1046	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	PKP4_ENST00000389757.3_Missense_Mutation_p.V312L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	312					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						CACCGCCAGAGTGGGGTCCCC	0.632										HNSCC(62;0.18)																												uc002tzv.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.(934-936)Gtg>Ttg		Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.							47	44	45					2																	159481720		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159481720G>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.934G>T	2.37:g.159481720G>T	ENSP00000374409:p.Val312Leu	HNSCC(62;0.18)	Somatic				PKP4_uc002tzt.1_Missense_Mutation_p.V164L|PKP4_uc002tzu.3_Missense_Mutation_p.V312L|PKP4_uc002tzw.3_Missense_Mutation_p.V312L|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.V310L|PKP4_uc002uaa.3_Missense_Mutation_p.V164L	p.V312L	NM_003628	NP_003619	WXS	Illumina GAIIx	Phase_I	Q99569	PKP4_HUMAN			6	1194	+			312					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.934G>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718921	0.30503	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74632	-0.82;-0.86	5.87	5.87	0.94306	.	0.304042	0.31210	N	0.008048	T	0.69993	0.3173	L	0.34521	1.04	0.48135	D	0.999598	B;B;B;B	0.17465	0.013;0.002;0.007;0.022	B;B;B;B	0.27380	0.047;0.004;0.006;0.079	T	0.61831	-0.6982	10	0.37606	T	0.19	-11.6221	20.5827	0.99408	0.0:0.0:1.0:0.0	.	164;312;312;164	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	L	164;312;312	ENSP00000374407:V312L;ENSP00000374409:V312L	ENSP00000374407:V312L	V	+	1	0	PKP4	159189966	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.025000	0.76449	2.941000	0.99782	0.655000	0.94253	GTG		0.632	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			12	22	0	0	0	1	0	12	22					T	159481720	G	T	159481720	3	4	226	1	0	0	0	0	1	0	0	0	11987	1029	36	4	956	4	PKP4	2	159481720	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08		159481720	83717653	2	4021											
TTN	7273	broad.mit.edu	37	2	179629473	179629473	+	Missense_Mutation	SNP	G	G	A	rs374521620		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:179629473G>A	ENST00000591111.1	-	42	9993	c.9769C>T	c.(9769-9771)Cgc>Tgc	p.R3257C	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN_ENST00000589042.1_Missense_Mutation_p.R3257C|TTN_ENST00000342992.6_Missense_Mutation_p.R3257C			Q8WZ42	TITIN_HUMAN	titin	13585	Ig-like 19.				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)			GCACAGAAGCGGGCAGGCTTG	0.507																																						uc021vsy.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.(9769-9771)Cgc>Tgc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							80	83	82					2																	179629473		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629473G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9769C>T	2.37:g.179629473G>A	ENSP00000465570:p.Arg3257Cys		Somatic				TTN_uc021vsz.1_Missense_Mutation_p.R3211C|TTN_uc021vta.1_Missense_Mutation_p.R3211C|TTN_uc021vtb.1_Missense_Mutation_p.R3211C|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.R3257C	p.R3257C	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9994	-			3257			Ig-like 19.		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.9769C>T		.	.	.	.	.	.	.	.	.	.	G	17.73	3.462563	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85856	0.5794	M	0.81942	2.565	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.86936	0.2076	9	0.87932	D	0	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	3211;3211;3211;3257;3257	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	3257;3211;3211;3211;3211;3257	ENSP00000343764:R3257C;ENSP00000434586:R3211C;ENSP00000340554:R3211C;ENSP00000352154:R3211C;ENSP00000354117:R3257C	ENSP00000340554:R3211C	R	-	1	0	TTN	179337718	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	7.894000	0.87336	2.683000	0.91414	0.655000	0.94253	CGC		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	63	0	0	0	1	0	22	63					A	179629473	G	A	179629473	3	1	226	1	0	0	0	0	1	0	0	0	16732	1116	39	1	101503	1	TTN	2	179629473	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	20147753	179629473	63569900	3	4022											
TAF2	6873	broad.mit.edu	37	8	120790278	120790278	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:120790278T>C	ENST00000378164.2	-	18	2643	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	782					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTGTTGTCATTGTACTTGAT	0.289																																						uc003you.3																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2344-2346)aAt>aGt		Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.							42	45	44					8																	120790278		2199	4284	6483	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120790278T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2345A>G	8.37:g.120790278T>C	ENSP00000367406:p.Asn782Ser		Somatic					p.N782S	NM_003184	NP_003175	WXS	Illumina GAIIx	Phase_I	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		17	2615	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		782					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2345A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301054	0.81136	.	.	ENSG00000064313	ENST00000378164	T	0.38722	1.12	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77940	-0.2399	10	0.66056	D	0.02	-27.1167	15.8661	0.79067	0.0:0.0:0.0:1.0	.	782	Q6P1X5	TAF2_HUMAN	S	782	ENSP00000367406:N782S	ENSP00000367406:N782S	N	-	2	0	TAF2	120859459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.971000	0.88012	2.155000	0.67459	0.477000	0.44152	AAT		0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	6	0	0	0	1	0	5	6					C	120790278	T	C	120790278	3	2	226	1	0	0	0	0	1	0	0	0	15521	1493	52	3	1290	3	TAF2	8	120790278	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		120790278	25573744	4	4023											
CDH23	64072	broad.mit.edu	37	10	73560398	73560398	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:73560398C>T	ENST00000224721.6	+	52	7388	c.7383C>T	c.(7381-7383)gaC>gaT	p.D2461D	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2456	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTAGGGTGACATCTATGTGC	0.507																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7357-7359)gaC>gaT		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							52	54	53					10																	73560398		1936	4129	6065	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73560398C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7383C>T	10.37:g.73560398C>T			Somatic				CDH23_uc001jsg.4_Silent_p.D216D|CDH23_uc001jsh.4_Silent_p.D216D|CDH23_uc001jsi.4_Silent_p.D216D	p.D2453D	NM_022124	NP_071407	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			50	7749	+			2456			Cadherin 23.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.7359C>T																																																																																					0.507	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	8	0	0	0	1	0	8	8					T	73560398	C	T	73560398	2	4	226	1	0	0	0	0	0	0	0	1	3108	477	17	2		2	CDH23	10	73560398	Silent	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		73560398	61974349	5	4024											
FAM196A	642938	broad.mit.edu	37	10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	rs377391223	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													G|||	2	0.000399361	0	0	5008	,	,		15461	0		0	False		,,,				2504	0.002					uc001ljv.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)aCg>aTg		Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	21	23	23		752,	4.0	0.7	10		23	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	251/480,	128973908	1,13003	2202	4300	6502	SO:0001583	missense	642938							g.chr10:128973908G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.752C>T	10.37:g.128973908G>A	ENSP00000429763:p.Thr251Met		Somatic				DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.T251M|FAM196A_uc001lju.1_Missense_Mutation_p.T251M|FAM196A_uc009yap.1_Missense_Mutation_p.T251M	p.T251M	NM_001039762	NP_001034851	WXS	Illumina GAIIx	Phase_I	Q6ZSG2	F196A_HUMAN			3	1308	-			251					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.752C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575891	0.45902	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.47528	0.84;0.84	4.02	4.02	0.46733	.	0.234553	0.43919	D	0.000508	T	0.65101	0.2659	M	0.69823	2.125	0.43381	D	0.995488	D;D	0.89917	1.0;0.999	D;P	0.72982	0.979;0.903	T	0.68659	-0.5350	10	0.87932	D	0	.	12.5521	0.56231	0.0:0.0:0.8332:0.1668	.	251;251	B7ZME7;Q6ZSG2	.;F196A_HUMAN	M	251	ENSP00000429763:T251M;ENSP00000428730:T251M	ENSP00000428730:T251M	T	-	2	0	FAM196A	128863898	0.998000	0.40836	0.702000	0.30337	0.309000	0.27889	2.909000	0.48758	2.530000	0.85305	0.563000	0.77884	ACG		0.657	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	16	0	0	0	1	0	6	16					A	128973908	G	A	128973908	3	1	226	1	0	0	0	0	1	0	0	0	5528	1145	40	1	699	1	FAM196A	10	128973908	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	55413510	128973908	6560839	6	4025											
WNT11	7481	broad.mit.edu	37	11	75907721	75907721	+	Missense_Mutation	SNP	G	G	A	rs200871564		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:75907721G>A	ENST00000322563.3	-	2	249	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	42					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCAGTGTTGCGTCTGGTTCAG	0.637																																						uc001oxe.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(124-126)aCg>aTg		Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.		G	MET/THR	1,4399	2.1+/-5.4	0,1,2199	56	39	45		125	5.1	1.0	11		45	0,8584		0,0,4292	no	missense	WNT11	NM_004626.2	81	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	42/355	75907721	1,12983	2200	4292	6492	SO:0001583	missense	7481				Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding	g.chr11:75907721G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"Wingless-type MMTV integration sites"	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.125C>T	11.37:g.75907721G>A	ENSP00000325526:p.Thr42Met		Somatic				WNT11_uc001oxf.1_Missense_Mutation_p.T42M	p.T42M	NM_004626	NP_004617	WXS	Illumina GAIIx	Phase_I	O96014	WNT11_HUMAN			1	248	-			42					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.125C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965800	0.74131	2.27E-4	0.0	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76448	-1.02	5.06	5.06	0.68205	.	0.181630	0.45126	D	0.000392	T	0.71753	0.3377	N	0.14661	0.345	0.54753	D	0.999981	D	0.71674	0.998	P	0.53146	0.719	T	0.75068	-0.3448	10	0.49607	T	0.09	.	13.2145	0.59851	0.0:0.1597:0.8403:0.0	.	42	O96014	WNT11_HUMAN	M	42	ENSP00000325526:T42M	ENSP00000325526:T42M	T	-	2	0	WNT11	75585369	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.587000	0.74071	2.334000	0.79466	0.655000	0.94253	ACG		0.637	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		5	14	0	0	0	1	0	5	14					A	75907721	G	A	75907721	3	1	226	1	0	0	0	0	1	0	0	0	17381	1145	40	1	955	1	WNT11	11	75907721	Missense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08		75907721	59098795	7	4026											
IGSF9B	22997	broad.mit.edu	37	11	133801601	133801601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:133801601G>T	ENST00000321016.8	-	9	1430	c.1200C>A	c.(1198-1200)taC>taA	p.Y400*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	400	Ig-like 4.				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)		CCAGAGTGTTGTAAGGCACAC	0.602																																						uc001qgx.4																			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.(1198-1200)taC>taA		Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.							40	45	44					11																	133801601		2028	4185	6213	SO:0001587	stop_gained	22997					integral to membrane|plasma membrane		g.chr11:133801601G>T	AK097578	CCDS61010.1	11q25	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"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1200C>A	11.37:g.133801601G>T	ENSP00000317980:p.Tyr400*		Somatic				IGSF9B_uc001qgy.1_Nonsense_Mutation_p.Y242*	p.Y400*	NM_014987	NP_055802	WXS	Illumina GAIIx	Phase_I	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)	8	1431	-	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)	400			Ig-like 4.		G5EA26	Nonsense_Mutation	SNP	ENST00000321016.8	37	c.1200C>A		.	.	.	.	.	.	.	.	.	.	G	40	7.970073	0.98588	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7919	0.23705	0.2184:0.0:0.7816:0.0	.	.	.	.	X	400;242;400	.	ENSP00000317980:Y400X	Y	-	3	2	IGSF9B	133306811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.998000	0.49465	2.423000	0.82170	0.543000	0.68304	TAC		0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	10	0	0	0	1	0	5	10					T	133801601	G	T	133801601	4	4	226	1	0	0	0	0	0	1	0	0	7606	1372	48	4	2893	4	IGSF9B	11	133801601	Nonsense_Mutation	SNP	G	TCGA-EL-A4KI-01A-11D-A257-08	57893880	133801601	1204915	8	4027											
GCN1L1	10985	broad.mit.edu	37	12	120611492	120611492	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr12:120611492T>A	ENST00000300648.6	-	14	1343	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	444					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTAGGCATGCCTCACCGC	0.502																																						uc001txo.3																			0		p.R443G(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1330-1332)cAt>cTt		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							90	85	86					12																	120611492		1943	4140	6083	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120611492T>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1331A>T	12.37:g.120611492T>A	ENSP00000300648:p.His444Leu		Somatic					p.H444L	NM_006836	NP_006827	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			13	1344	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		444					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1331A>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792762	0.31685	.	.	ENSG00000089154	ENST00000300648	T	0.04194	3.68	5.14	5.14	0.70334	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15665	-1.0429	10	0.07482	T	0.82	-13.0669	14.9422	0.71003	0.0:0.0:0.0:1.0	.	444	Q92616	GCN1L_HUMAN	L	444	ENSP00000300648:H444L	ENSP00000300648:H444L	H	-	2	0	GCN1L1	119095875	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	7.594000	0.82698	1.934000	0.56057	0.455000	0.32223	CAT		0.502	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	52	0	0	0	1	0	6	52					A	120611492	T	A	120611492	3	1	226	1	0	0	0	0	1	0	0	0	6299	1464	51	5	6864	5	GCN1L1	12	120611492	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08		120611492	13240403	9	4028											
RB1	5925	broad.mit.edu	37	13	49039494	49039494	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:49039494C>T	ENST00000267163.4	+	23	2617	c.2479C>T	c.(2479-2481)Cca>Tca	p.P827S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	827	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAAAATGACTCCAAGATCAAG	0.368		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2479-2481)Cca>Tca		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						57	61	59					13																	49039494		2201	4300	6501	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039494C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2479C>T	13.37:g.49039494C>T	ENSP00000267163:p.Pro827Ser	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.P827S	NM_000321	NP_000312	WXS	Illumina GAIIx	Phase_I	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2645	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	827			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2479C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423244	0.83559	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.86694	-2.16	5.66	5.66	0.87406	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92567	0.6063	10	0.72032	D	0.01	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	827	P06400	RB_HUMAN	S	806;827	ENSP00000267163:P827S	ENSP00000267163:P827S	P	+	1	0	RB1	47937495	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.749000	0.74883	2.669000	0.90835	0.591000	0.81541	CCA		0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			24	34	0	0	0	1	0	24	34					T	49039494	C	T	49039494	3	4	226	1	0	0	0	0	1	0	0	0	13098	855	30	2	2569	2	RB1	13	49039494	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		49039494	66130384	10	4029											
SLITRK1	114798	broad.mit.edu	37	13	84454817	84454817	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:84454817C>A	ENST00000377084.2	-	1	1711	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	276					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTCTTGGGCAGGGGGCGCC	0.552																																						uc001vlk.3																			0		p.P275R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(826-828)Gcc>Tcc		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							61	64	63					13																	84454817		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454817C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.826G>T	13.37:g.84454817C>A	ENSP00000366288:p.Ala276Ser		Somatic					p.A276S	NM_052910	NP_443142	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	1712	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	276					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.826G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	1.046	-0.677213	0.03378	.	.	ENSG00000178235	ENST00000377084	T	0.41400	1.0	4.95	4.95	0.65309	.	0.053938	0.85682	D	0.000000	T	0.23249	0.0562	N	0.05230	-0.09	0.53005	D	0.999968	B	0.13145	0.007	B	0.12837	0.008	T	0.08827	-1.0703	10	0.12103	T	0.63	-12.6113	16.915	0.86149	0.0:1.0:0.0:0.0	.	276	Q96PX8	SLIK1_HUMAN	S	276	ENSP00000366288:A276S	ENSP00000366288:A276S	A	-	1	0	SLITRK1	83352818	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.366000	0.59492	2.572000	0.86782	0.555000	0.69702	GCC		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		20	44	0	0	0	1	0	20	44					A	84454817	C	A	84454817	3	1	226	1	0	0	0	0	1	0	0	0	14742	710	25	4	1268	4	SLITRK1	13	84454817	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08	35415323	84454817	30715061	11	4030											
SRRM2	23524	broad.mit.edu	37	16	2812763	2812763	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr16:2812763C>T	ENST00000301740.8	+	11	2783	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	745	Arg-rich.|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)			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						AGGTCCAATTCAAGCCCAGAA	0.468																																						uc002crk.3																			0				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.(2233-2235)tCa>tTa		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							91	95	94					16																	2812763		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	g.chr16:2812763C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2234C>T	16.37:g.2812763C>T	ENSP00000301740:p.Ser745Leu		Somatic				SRRM2_uc002crj.1_Missense_Mutation_p.S649L|SRRM2_uc002crl.1_Missense_Mutation_p.S745L|SRRM2_uc010bsu.1_Missense_Mutation_p.S649L	p.S745L	NM_016333	NP_057417	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			10	2783	+			745			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2234C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	3.912	-0.019808	0.07634	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.37915	1.17	5.8	5.8	0.92144	.	0.000000	0.51477	D	0.000091	T	0.33904	0.0879	L	0.27053	0.805	0.35032	D	0.758848	D	0.58268	0.982	P	0.50049	0.629	T	0.33394	-0.9870	10	0.29301	T	0.29	-12.9674	13.1768	0.59633	0.0:0.8399:0.1601:0.0	.	745	Q9UQ35	SRRM2_HUMAN	L	745;745;710	ENSP00000301740:S745L	ENSP00000301740:S745L	S	+	2	0	SRRM2	2752764	0.964000	0.33143	0.999000	0.59377	0.687000	0.40016	3.481000	0.53179	2.746000	0.94184	0.563000	0.77884	TCA		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	81	0	0	0	1	0	15	81					T	2812763	C	T	2812763	3	4	226	1	0	0	0	0	1	0	0	0	15168	838	29	2	2272	2	SRRM2	16	2812763	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		2812763	87541990	12	4031											
SLC47A1	55244	broad.mit.edu	37	17	19463805	19463805	+	Splice_Site	SNP	C	C	T	rs185769986		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:19463805C>T	ENST00000270570.4	+	12	1191	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	SLC47A1_ENST00000395585.1_Splice_Site_p.R369*|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Splice_Site_p.R369*|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Splice_Site_p.R174*|SLC47A1_ENST00000436810.2_Splice_Site_p.R346*|SNORA59B_ENST00000458926.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	369					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TACTACCGACCGGTGAGTGCT	0.403													C|||	1	0.000199681	0	0.0014	5008	,	,		21798	0		0	False		,,,				2504	0					uc002gvx.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e12+1		Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.							178	162	167					17																	19463805		2203	4300	6503	SO:0001630	splice_region_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19463805C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1106+1C>T	17.37:g.19463805C>T			Somatic				SLC47A1_uc002gvy.1_Splice_Site_p.R369_splice|SLC47A1_uc010vyz.1_Splice_Site_p.R346_splice|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Splice_Site_p.R174_splice|SLC47A1_uc010vza.1_Splice_Site_p.R81_splice|SLC47A1_uc010vzb.1_Splice_Site_p.R103_splice|SLC47A1_uc010vzc.1_Splice_Site_p.R41_splice	p.R369_splice	NM_018242	NP_060712	WXS	Illumina GAIIx	Phase_I	Q96FL8	S47A1_HUMAN			12	1192	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		369					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Splice_Site	SNP	ENST00000270570.4	37	c.1106_splice	CCDS11209.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.50	3.139656	0.56936	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.46	-4.57	0.03421	.	0.680052	0.15370	N	0.265893	.	.	.	.	.	.	0.44834	D	0.997842	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.1866	7.4226	0.27081	0.6956:0.1473:0.0814:0.0757	.	.	.	.	X	346;369;369;369;103;81	.	ENSP00000270570:R369X	R	+	1	2	SLC47A1	19404397	0.496000	0.26059	0.432000	0.26747	0.419000	0.31324	-0.167000	0.09940	-1.120000	0.02953	0.462000	0.41574	CGA		0.403	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	Nonsense_Mutation	16	61	0	0	0	1	0	16	61					T	19463805	C	T	19463805	5	4	226	1	0	0	0	0	0	0	1	0	14647	666	23	1	1151	1	SLC47A1	17	19463805	Splice_Site	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		19463805	61731405	13	4032											
EFCAB5	374786	broad.mit.edu	37	17	28380836	28380836	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:28380836T>C	ENST00000394835.3	+	10	2056	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P	EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	622							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						ACACAAAGGGTCAGTAGCAGA	0.463																																						uc002het.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.(1864-1866)Tca>Cca		Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.							239	225	230					17																	28380836		2083	4215	6298	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380836T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1864T>C	17.37:g.28380836T>C	ENSP00000378312:p.Ser622Pro		Somatic				EFCAB5_uc010wbi.1_Missense_Mutation_p.S365P|EFCAB5_uc010wbj.2_Missense_Mutation_p.S566P|EFCAB5_uc010wbk.2_Missense_Mutation_p.S279P|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.S501P|EFCAB5_uc010csf.3_Missense_Mutation_p.S501P	p.S622P	NM_198529	NP_940931	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			9	2056	+			622					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1864T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	12.44	1.938610	0.34189	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.83	2.13	0.27403	.	0.723385	0.11968	N	0.512046	T	0.54615	0.1869	M	0.67953	2.075	0.09310	N	1	D;D;D;P;B;P	0.89917	0.999;1.0;1.0;0.859;0.111;0.859	D;D;D;P;B;B	0.91635	0.996;0.998;0.999;0.507;0.041;0.274	T	0.37776	-0.9691	10	0.34782	T	0.22	-10.1655	3.4961	0.07655	0.0:0.272:0.1974:0.5306	.	566;566;622;622;622;622	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	P	566;365;279;622;622;622;622;566;428	ENSP00000440619:S566P;ENSP00000445575:S279P;ENSP00000378312:S622P;ENSP00000322003:S622P;ENSP00000378309:S622P;ENSP00000368012:S622P;ENSP00000417009:S428P	ENSP00000322003:S622P	S	+	1	0	EFCAB5	25404962	0.002000	0.14202	0.056000	0.19401	0.007000	0.05969	0.441000	0.21611	1.028000	0.39785	0.533000	0.62120	TCA		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		38	132	0	0	0	1	0	38	132					C	28380836	T	C	28380836	3	2	226	1	0	0	0	0	1	0	0	0	4938	1667	58	3	1902	3	EFCAB5	17	28380836	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08	8917031	28380836	52814374	14	4033											
KCTD2	23510	broad.mit.edu	37	17	73055633	73055633	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:73055633T>A	ENST00000322444.6	+	4	575	c.569T>A	c.(568-570)cTg>cAg	p.L190Q	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	190					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					TACAGAGTCCTGCAGTGTCAG	0.567																																						uc002jmp.3																			0				kidney(1)|lung(2)	3						c.(568-570)cTg>cAg		Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.							106	85	92					17																	73055633		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73055633T>A	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.569T>A	17.37:g.73055633T>A	ENSP00000312814:p.Leu190Gln		Somatic				KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript	p.L190Q	NM_015353	NP_056168	WXS	Illumina GAIIx	Phase_I	Q14681	KCTD2_HUMAN			3	636	+	all_lung(278;0.226)		190						Missense_Mutation	SNP	ENST00000322444.6	37	c.569T>A	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	T	31	5.085562	0.94100	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.59638	0.25	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.79353	0.4431	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83450	0.0048	10	0.87932	D	0	.	15.837	0.78805	0.0:0.0:0.0:1.0	.	190	Q14681	KCTD2_HUMAN	Q	190;172	ENSP00000312814:L190Q	ENSP00000312814:L190Q	L	+	2	0	KCTD2	70567228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.959000	0.87885	2.140000	0.66376	0.460000	0.39030	CTG		0.567	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			17	19	0	0	0	1	0	17	19					A	73055633	T	A	73055633	3	1	226	1	0	0	0	0	1	0	0	0	8107	1580	55	5	583	5	KCTD2	17	73055633	Missense_Mutation	SNP	T	TCGA-EL-A4KI-01A-11D-A257-08	44674797	73055633	8139577	15	4034											
ECSIT	51295	broad.mit.edu	37	19	11624902	11624902	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:11624902C>T	ENST00000270517.7	-	3	366	c.231G>A	c.(229-231)ggG>ggA	p.G77G	RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000252440.7_Silent_p.G77G|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000417981.2_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	77					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CAGGCGCCTGCCCAAACAGGT	0.632																																						uc002msb.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(229-231)ggG>ggA		Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							51	50	50					19																	11624902		2203	4300	6503	SO:0001819	synonymous_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624902C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.231G>A	19.37:g.11624902C>T			Somatic				ECSIT_uc010dyc.2_Silent_p.G77G|ECSIT_uc010dyd.3_Silent_p.G77G|ECSIT_uc010xma.2_Intron	p.G77G	NM_016581	NP_057665	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			2	365	-			77					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	c.231G>A	CCDS12262.1																																																																																				0.632	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		19	22	0	0	0	1	0	19	22					T	11624902	C	T	11624902	2	4	226	1	0	0	0	0	0	0	0	1	4900	726	26	2		2	ECSIT	19	11624902	Silent	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		11624902	47504081	16	4035											
NWD1	284434	broad.mit.edu	37	19	16908636	16908636	+	Missense_Mutation	SNP	C	C	T	rs140641936	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:16908636C>T	ENST00000552788.1	+	14	3398	c.3398C>T	c.(3397-3399)aCg>aTg	p.T1133M	NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000524140.2_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M|NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1133							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						ATGGTGGAGACGGCTGTTTTT	0.542																																						uc002neu.4																			0		p.R1132H(1)		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.(3397-3399)aCg>aTg		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.		C	MET/THR	0,4406		0,0,2203	297	272	281		3398	3.6	0.2	19	dbSNP_134	281	4,8596	3.7+/-12.6	0,4,4296	no	missense	NWD1	NM_001007525.3	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	1133/1433	16908636	4,13002	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16908636C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3398C>T	19.37:g.16908636C>T	ENSP00000447224:p.Thr1133Met		Somatic				NWD1_uc002net.4_Missense_Mutation_p.T998M|NWD1_uc002nev.4_Missense_Mutation_p.T927M|NWD1_uc021uqg.1_Missense_Mutation_p.T998M	p.T1133M	NM_001007525	NP_001007526	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			15	3820	+			1133					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3398C>T		.	.	.	.	.	.	.	.	.	.	C	8.793	0.931090	0.18131	0.0	4.65E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70986	-0.23;-0.53;-0.23;3.51;3.51;3.51	4.62	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.299519	0.31784	N	0.007074	T	0.57562	0.2062	N	0.24115	0.695	0.21064	N	0.999794	P;P;P	0.41345	0.661;0.746;0.63	B;B;B	0.41510	0.212;0.359;0.271	T	0.54262	-0.8320	10	0.62326	D	0.03	-4.2155	10.6039	0.45384	0.0:0.9041:0.0:0.0959	.	1133;1133;998	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	998;1133;1133;1133;927;1133;998	ENSP00000428579:T1133M;ENSP00000447548:T1133M;ENSP00000369136:T1133M;ENSP00000428955:T927M;ENSP00000447224:T1133M;ENSP00000340159:T998M	ENSP00000340159:T998M	T	+	2	0	NWD1	16769636	0.263000	0.24083	0.152000	0.22495	0.016000	0.09150	1.992000	0.40737	1.151000	0.42436	0.561000	0.74099	ACG		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		102	162	0	0	0	1	0	102	162					T	16908636	C	T	16908636	3	4	226	1	0	0	0	0	1	0	0	0	10781	536	19	1	3039	1	NWD1	19	16908636	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08	5283734	16908636	42220347	17	4036											
PRND	23627	broad.mit.edu	37	20	4705313	4705313	+	Missense_Mutation	SNP	C	C	T	rs368923140		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr20:4705313C>T	ENST00000305817.2	+	2	187	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	39	Flexible tail.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AACCGGAAGGCCCTGCCCAGC	0.622																																						uc002wkz.3																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(115-117)gCc>gTc		Homo sapiens prion protein 2 (dublet) (PRND), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62	53	56		116	2.2	0.0	20		56	0,8600		0,0,4300	no	missense	PRND	NM_012409.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	39/177	4705313	1,13005	2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705313C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.116C>T	20.37:g.4705313C>T	ENSP00000306900:p.Ala39Val		Somatic				PRND_uc021waf.1_Missense_Mutation_p.A39V	p.A39V	NM_012409	NP_036541	WXS	Illumina GAIIx	Phase_I	Q9UKY0	PRND_HUMAN			1	187	+			39			Flexible tail.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.116C>T	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	2.775	-0.254911	0.05829	2.27E-4	0.0	ENSG00000171864	ENST00000305817	D	0.82803	-1.65	5.47	2.19	0.27852	.	0.960811	0.08524	N	0.932934	T	0.70133	0.3189	L	0.28458	0.855	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.52373	-0.8584	10	0.12430	T	0.62	-7.6194	6.2887	0.21047	0.0:0.6368:0.1682:0.195	.	39	Q9UKY0	PRND_HUMAN	V	39	ENSP00000306900:A39V	ENSP00000306900:A39V	A	+	2	0	PRND	4653313	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	0.824000	0.27379	0.659000	0.30945	0.557000	0.71058	GCC		0.622	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		4	51	0	0	0	1	0	4	51					T	4705313	C	T	4705313	3	4	226	1	0	0	0	0	1	0	0	0	12543	739	26	2	118	2	PRND	20	4705313	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		4705313	58320207	18	4037											
C22orf9	23313	broad.mit.edu	37	22	45601543	45601543	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr22:45601543C>T	ENST00000336156.5	-	4	447	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	128										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGAATGTCCCCGCCGTCAGCA	0.617																																						uc003bfv.1																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(409-411)Ggg>Agg		Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.							85	77	80					22																	45601543		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601543C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.382G>A	22.37:g.45601543C>T	ENSP00000336720:p.Gly128Arg		Somatic				KIAA0930_uc003bfx.1_Missense_Mutation_p.G128R|KIAA0930_uc010gzw.1_Intron|KIAA0930_uc003bfw.1_Missense_Mutation_p.G133R|KIAA0930_uc010gzx.2_Missense_Mutation_p.G110R	p.G137R	NM_001009880	NP_001009880	WXS	Illumina GAIIx	Phase_I	Q6ICG6	K0930_HUMAN			2	595	-			128					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.409G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193788	0.58017	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.59	4.59	0.56863	.	0.156544	0.56097	D	0.000024	T	0.62780	0.2456	L	0.28694	0.88	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.995;0.999	D;P;P;P	0.91635	0.999;0.806;0.578;0.859	T	0.55933	-0.8062	9	0.12430	T	0.62	-34.2283	15.9647	0.79961	0.0:1.0:0.0:0.0	.	110;128;133;199	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	R	128;133;94;110;94;110	.	ENSP00000251993:G133R	G	-	1	0	KIAA0930	43980207	1.000000	0.71417	0.763000	0.31416	0.100000	0.18952	7.485000	0.81204	2.275000	0.75901	0.561000	0.74099	GGG		0.617	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		9	12	0	0	0	1	0	9	12					T	45601543	C	T	45601543	3	4	226	1	0	0	0	0	1	0	0	0	2151	652	23	1	860	1	C22orf9	22	45601543	Missense_Mutation	SNP	C	TCGA-EL-A4KI-01A-11D-A257-08		45601543	5703023	19	4038											
MAGI3	260425	broad.mit.edu	37	1	114137161	114137161	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr1:114137161C>A	ENST00000307546.9	+	6	1072	c.997C>A	c.(997-999)Cct>Act	p.P333T	MAGI3_ENST00000369615.1_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	333					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCAAAGCCCCTGAAGACTG	0.368																																						uc001edk.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(997-999)Cct>Act		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							100	104	102					1																	114137161		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114137161C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.997C>A	1.37:g.114137161C>A	ENSP00000304604:p.Pro333Thr		Somatic				MAGI3_uc001edh.3_Missense_Mutation_p.P333T|MAGI3_uc001edi.4_Missense_Mutation_p.P333T|MAGI3_uc010owm.2_Missense_Mutation_p.P333T|MAGI3_uc001edj.3_Missense_Mutation_p.P54T	p.P333T	NM_001142782	NP_001136254	WXS	Illumina GAIIx	Phase_I	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1178	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	333					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.997C>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683308	0.88542	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.20332	2.33;2.08;2.31;2.31	5.53	5.53	0.82687	.	0.049103	0.85682	D	0.000000	T	0.37237	0.0996	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.982;0.996	T	0.13388	-1.0511	10	0.87932	D	0	-17.557	19.4668	0.94946	0.0:1.0:0.0:0.0	.	333;333;333	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	333	ENSP00000358630:P333T;ENSP00000304604:P333T;ENSP00000358628:P333T;ENSP00000358624:P333T	ENSP00000304604:P333T	P	+	1	0	MAGI3	113938684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.613000	0.88420	0.585000	0.79938	CCT		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	115	0	0	0	1	0	4	115					A	114137161	C	A	114137161	3	1	227	1	0	0	0	0	1	0	0	0	9192	623	22	4	1019	4	MAGI3	1	114137161	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		114137161	135113460	1	4039											
NRXN1	9378	broad.mit.edu	37	2	50779760	50779760	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:50779760C>A	ENST00000406316.2	-	9	3200	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000404971.1_Missense_Mutation_p.W615L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	575	Laminin G-like 3. {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)			CACATGATACCATTCTCCATC	0.463																																						uc021vhg.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.(1843-1845)tGg>tTg		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							146	136	139					2																	50779760		1896	4108	6004	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.chr2:50779760C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1724G>T	2.37:g.50779760C>A	ENSP00000384311:p.Trp575Leu		Somatic				NRXN1_uc002rxb.4_Missense_Mutation_p.W247L|NRXN1_uc021vhh.1_Missense_Mutation_p.W575L|NRXN1_uc021vhi.1_Missense_Mutation_p.W611L|NRXN1_uc021vhj.1_Missense_Mutation_p.W571L|NRXN1_uc002rxc.1_Non-coding_Transcript	p.W615L	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2765	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	575			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1844G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989854	0.93106	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	H	0.94964	3.605	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.999;1.0	D	0.93322	0.6693	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	615;575;567	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	615;575;567;575;616;567;575	ENSP00000385142:W615L;ENSP00000384311:W575L;ENSP00000434015:W567L;ENSP00000385017:W575L;ENSP00000385434:W567L;ENSP00000385681:W575L	ENSP00000385017:W575L	W	-	2	0	NRXN1	50633264	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.764000	0.85297	2.814000	0.96858	0.591000	0.81541	TGG		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	155	0	0	0	1	0	5	155					A	50779760	C	A	50779760	3	1	227	1	0	0	0	0	1	0	0	0	10665	595	21	4	3122	4	NRXN1	2	50779760	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		50779760	192419613	2	4040											
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR					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)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		17960	0		0	False		,,,				2504	0					uc010flp.3																			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.(271-273)Ggc>Agc		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							98	111	107					2																	121708835		2203	4300	6503	SO:0001583	missense	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.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser		Somatic				GLI2_uc010yyu.1_Missense_Mutation_p.G91S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.G91S	p.G91S	NM_005270	NP_005261	WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			2	301	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		6	194	0	0	0	1	0	6	194					A	121708835	G	A	121708835	3	1	227	1	0	0	0	0	1	0	0	0	6438	1116	39	1	281	1	GLI2	2	121708835	Missense_Mutation	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08	70929075	121708835	121490538	3	4041											
ADAMTS19	171019	broad.mit.edu	37	5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr5:128863519A>T	ENST00000274487.4	+	5	1292	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1147-1149)Act>Tct		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							88	94	92					5																	128863519		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863519A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1147A>T	5.37:g.128863519A>T	ENSP00000274487:p.Thr383Ser		Somatic				ADAMTS19_uc003kvc.1_Non-coding_Transcript	p.T383S	NM_133638	NP_598377	WXS	Illumina GAIIx	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1147	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	383			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1147A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443333	0.43429	.	.	ENSG00000145808	ENST00000274487	T	0.62639	0.01	4.41	4.41	0.53225	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.158954	0.41712	D	0.000833	T	0.35770	0.0943	N	0.03608	-0.345	0.31821	N	0.625927	B	0.19200	0.034	B	0.26310	0.068	T	0.38156	-0.9674	9	.	.	.	.	9.5679	0.39409	0.7405:0.0:0.0:0.2595	.	383	Q8TE59	ATS19_HUMAN	S	383	ENSP00000274487:T383S	.	T	+	1	0	ADAMTS19	128891418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.209000	0.71365	0.460000	0.39030	ACT		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		48	79	0	0	0	1	0	48	79					T	128863519	A	T	128863519	3	4	227	1	0	0	0	0	1	0	0	0	264	43	2	5	1165	5	ADAMTS19	5	128863519	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08		128863519	52051741	4	4042											
GPLD1	2822	broad.mit.edu	37	6	24446031	24446031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:24446031C>A	ENST00000230036.1	-	19	1959	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	617					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTTTCTCATCTCGGATG	0.532																																						uc003ned.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1849-1851)Gag>Tag		Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.							112	111	111					6																	24446031		2203	4300	6503	SO:0001587	stop_gained	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446031C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1849G>T	6.37:g.24446031C>A	ENSP00000230036:p.Glu617*		Somatic					p.E617*	NM_001503	NP_001494	WXS	Illumina GAIIx	Phase_I	P80108	PHLD_HUMAN			18	1960	-			617					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Nonsense_Mutation	SNP	ENST00000230036.1	37	c.1849G>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555615	0.96514	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.49	4.62	0.57501	.	0.478268	0.20745	N	0.086463	.	.	.	.	.	.	0.24283	N	0.995196	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-12.6895	11.0533	0.47903	0.0:0.8494:0.0:0.1506	.	.	.	.	X	617	.	ENSP00000230036:E617X	E	-	1	0	GPLD1	24554010	0.009000	0.17119	0.015000	0.15790	0.404000	0.30871	1.849000	0.39318	1.301000	0.44836	0.655000	0.94253	GAG		0.532	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		4	105	0	0	0	1	0	4	105					A	24446031	C	A	24446031	4	1	227	1	0	0	0	0	0	1	0	0	6614	835	29	4	701	4	GPLD1	6	24446031	Nonsense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		24446031	146669036	5	4043											
MUC17	140453	broad.mit.edu	37	7	100681033	100681033	+	Silent	SNP	G	G	A	rs368015481	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr7:100681033G>A	ENST00000306151.4	+	3	6400	c.6336G>A	c.(6334-6336)acG>acA	p.T2112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	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)					TCAGCACCACGCCGGTGGCCA	0.498													G|||	3	0.000599042	0	0	5008	,	,		25736	0.002		0.001	False		,,,				2504	0					uc003uxp.1																			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.(6334-6336)acG>acA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.		G		0,4406		0,0,2203	209	212	211		6336	-1.9	0.0	7		211	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	MUC17	NM_001040105.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2112/4494	100681033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681033G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6336G>A	7.37:g.100681033G>A			Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.T2112T	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	6389	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6336G>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	436	0	0	0	1	0	6	436					A	100681033	G	A	100681033	2	1	227	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100681033	Silent	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08		100681033	58457630	6	4044											
AMBP	259	broad.mit.edu	37	9	116839008	116839008	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr9:116839008A>C	ENST00000265132.3	-	2	392	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGTTGTACCACTTCCCATAG	0.597																																						uc004bie.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(130-132)Tgg>Ggg		Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						110	78	89					9																	116839008		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116839008A>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.130T>G	9.37:g.116839008A>C	ENSP00000265132:p.Trp44Gly		Somatic				AMBP_uc011lxk.2_5'UTR|AMBP_uc010mvc.1_Non-coding_Transcript	p.W44G	NM_001633	NP_001624	WXS	Illumina GAIIx	Phase_I	P02760	AMBP_HUMAN			1	393	-			44					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.130T>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995141	0.54147	.	.	ENSG00000106927	ENST00000265132	D	0.99557	-6.16	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.59425	D	0.04	.	8.9958	0.36052	1.0:0.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	G	44	ENSP00000265132:W44G	ENSP00000265132:W44G	W	-	1	0	AMBP	115878829	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	5.463000	0.66712	1.624000	0.50355	0.459000	0.35465	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		19	49	0	0	0	1	0	19	49					C	116839008	A	C	116839008	3	2	227	1	0	0	0	0	1	0	0	0	564	159	6	5	964	5	AMBP	9	116839008	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08		116839008	24374423	7	4045											
DMBT1	1755	broad.mit.edu	37	10	124336139	124336139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr10:124336139C>T	ENST00000338354.3	+	7	614	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R170C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	170	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATGATGTGCGCTGCTCAGG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(508-510)Cgc>Tgc		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							147	143	145					10																	124336139		2068	4243	6311	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336139C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.508C>T	10.37:g.124336139C>T	ENSP00000342210:p.Arg170Cys		Somatic				DMBT1_uc001lgl.1_Missense_Mutation_p.R170C|DMBT1_uc001lgm.1_Missense_Mutation_p.R170C|DMBT1_uc021qaf.1_Missense_Mutation_p.R170C|DMBT1_uc021qag.1_Missense_Mutation_p.R170C|DMBT1_uc021qah.1_Missense_Mutation_p.R170C|DMBT1_uc009xzz.1_Missense_Mutation_p.R170C|DMBT1_uc010qtx.1_Missense_Mutation_p.R170C|DMBT1_uc009yaa.1_Missense_Mutation_p.R22C	p.R170C	NM_007329	NP_015568	WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			6	614	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	170			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.508C>T		.	.	.	.	.	.	.	.	.	.	c	14.36	2.513656	0.44763	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.63	-5.58	0.02512	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.895030	0.03666	U	0.243313	T	0.70168	0.3193	M	0.92880	3.355	0.09310	N	1	B;D;P;D;D;D	0.89917	0.405;0.999;0.954;0.998;0.997;1.0	B;D;P;P;P;D	0.74023	0.04;0.931;0.592;0.627;0.804;0.982	T	0.71006	-0.4717	10	0.52906	T	0.07	.	12.8229	0.57704	0.3295:0.1672:0.5033:0.0	.	170;170;170;170;170;170	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	170	ENSP00000342210:R170C;ENSP00000343175:R170C;ENSP00000327747:R170C;ENSP00000357905:R170C;ENSP00000357951:R170C;ENSP00000357952:R170C;ENSP00000352593:R170C	ENSP00000331522:R170C	R	+	1	0	DMBT1	124326129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.709000	0.00056	-1.523000	0.01767	-0.176000	0.13171	CGC		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	217	0	0	0	1	0	5	217					T	124336139	C	T	124336139	3	4	227	1	0	0	0	0	1	0	0	0	4577	768	27	1	534	1	DMBT1	10	124336139	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		124336139	11198608	8	4046											
FRY	10129	broad.mit.edu	37	13	32698958	32698958	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:32698958T>C	ENST00000380250.3	+	7	1158	c.662T>C	c.(661-663)aTg>aCg	p.M221T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTGGCAATATGCATATTGTG	0.438																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(661-663)aTg>aCg		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							142	137	139					13																	32698958		1934	4145	6079	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698958T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.662T>C	13.37:g.32698958T>C	ENSP00000369600:p.Met221Thr		Somatic				FRY_uc010tdw.2_Non-coding_Transcript	p.M221T	NM_023037	NP_075463	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	6	1158	+		Lung SC(185;0.0271)	221					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.662T>C	CCDS41875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.62|17.62	3.434827|3.434827	0.62955|0.62955	.|.	.|.	ENSG00000073910|ENSG00000073910	ENST00000267067|ENST00000380250	.|T	.|0.23147	.|1.92	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.30634	.|0.288	.|B	.|0.25140	.|0.058	T|T	0.03344|0.03344	-1.1046|-1.1046	6|10	0.87932|0.22706	D|T	0|0.39	.|.	15.5243|15.5243	0.75890|0.75890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|221	.|Q5TBA9	.|FRY_HUMAN	R|T	148|221	.|ENSP00000369600:M221T	ENSP00000267067:C148R|ENSP00000369600:M221T	C|M	+|+	1|2	0|0	FRY|FRY	31596958|31596958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.040000|8.040000	0.89188|0.89188	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGC|ATG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	201	0	0	0	1	0	5	201					C	32698958	T	C	32698958	3	2	227	1	0	0	0	0	1	0	0	0	6063	1464	51	3	688	3	FRY	13	32698958	Missense_Mutation	SNP	T	TCGA-EM-A1CS-01A-11D-A13W-08		32698958	82470920	9	4047											
ARHGEF7	8874	broad.mit.edu	37	13	111870032	111870032	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:111870032A>G	ENST00000375741.2	+	6	788	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000544132.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	180					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTAGGACATGACCGATAATAG	0.378																																						uc001vrs.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(538-540)Acc>Gcc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.							109	104	105					13																	111870032		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr13:111870032A>G	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.538A>G	13.37:g.111870032A>G	ENSP00000364893:p.Thr180Ala		Somatic				ARHGEF7_uc001vrr.2_Missense_Mutation_p.T159A|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T130A|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrw.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrx.4_Missense_Mutation_p.T2A|ARHGEF7_uc010tjo.2_Missense_Mutation_p.T77A	p.T180A	NM_001113511	NP_001106983	WXS	Illumina GAIIx	Phase_I	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	788	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		180					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.538A>G	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377007	0.61735	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000491775;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;D;T;T;T;T;T;T;T;T	0.94828	0.65;0.65;0.65;0.9;-3.53;0.7;0.68;0.71;0.7;0.71;0.89;0.67;0.65	4.82	4.82	0.62117	.	0.054190	0.64402	D	0.000001	D	0.90246	0.6950	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.25521	0.021;0.121;0.025;0.128	B;B;B;B	0.25759	0.014;0.063;0.034;0.06	D	0.88542	0.3110	10	0.66056	D	0.02	.	14.697	0.69129	1.0:0.0:0.0:0.0	.	77;130;180;159	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	A	159;180;130;2;87;157;2;2;2;2;2;2;77;77;2	ENSP00000325994:T159A;ENSP00000364893:T180A;ENSP00000364891:T130A;ENSP00000406732:T2A;ENSP00000359657:T87A;ENSP00000418067:T2A;ENSP00000218789:T2A;ENSP00000364888:T2A;ENSP00000420592:T2A;ENSP00000397068:T2A;ENSP00000389890:T77A;ENSP00000364889:T77A;ENSP00000364875:T2A	ENSP00000218789:T2A	T	+	1	0	ARHGEF7	110668033	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	5.480000	0.66820	1.918000	0.55548	0.533000	0.62120	ACC		0.378	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		3	63	0	0	0	1	0	3	63					G	111870032	A	G	111870032	3	3	227	1	0	0	0	0	1	0	0	0	911	275	10	3	560	3	ARHGEF7	13	111870032	Missense_Mutation	SNP	A	TCGA-EM-A1CS-01A-11D-A13W-08	79171074	111870032	3299846	10	4048											
LBP	3929	broad.mit.edu	37	20	37002620	37002620	+	Missense_Mutation	SNP	G	G	A	rs544709874		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr20:37002620G>A	ENST00000217407.2	+	14	1525	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	455					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCTGAAGCGTGTTCAGCTC	0.488													G|||	1	0.000199681	0	0	5008	,	,		20557	0.001		0	False		,,,				2504	0					uc002xic.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1363-1365)cGt>cAt		Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.							93	85	88					20																	37002620		2203	4300	6503	SO:0001583	missense	3929				Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37002620G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1364G>A	20.37:g.37002620G>A	ENSP00000217407:p.Arg455His		Somatic					p.R455H	NM_004139	NP_004130	WXS	Illumina GAIIx	Phase_I	P18428	LBP_HUMAN			13	1399	+		Myeloproliferative disorder(115;0.00878)	455					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1364G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.599005	0.00125	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.06528	3.29	5.01	-10.0	0.00425	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.482540	0.03811	N	0.265874	T	0.03827	0.0108	N	0.03000	-0.44	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52895	-0.8514	10	0.25751	T	0.34	5.3301	22.978	0.99978	0.222:0.0:0.778:0.0	.	455	P18428	LBP_HUMAN	H	455	ENSP00000217407:R455H	ENSP00000217407:R455H	R	+	2	0	LBP	36436034	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.634000	0.00869	-3.973000	0.00085	-1.084000	0.02203	CGT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		28	79	0	0	0	1	0	28	79					A	37002620	G	A	37002620	3	1	227	1	0	0	0	0	1	0	0	0	8651	1145	40	1	1418	1	LBP	20	37002620	Missense_Mutation	SNP	G	TCGA-EM-A1CS-01A-11D-A13W-08		37002620	26022900	11	4049											
YY2	404281	broad.mit.edu	37	X	21875408	21875408	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:21875408C>T	ENST00000429584.2	+	1	1304	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				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(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGGATTACGCCGCCATGAGA	0.498																																						uc011mjp.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)gCc>gTc		Homo sapiens YY2 transcription factor (YY2), mRNA.							122	123	122					X																	21875408		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875408C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.806C>T	X.37:g.21875408C>T	ENSP00000389381:p.Ala269Val		Somatic				MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	p.A269V	NM_206923	NP_996806	WXS	Illumina GAIIx	Phase_I	O15391	TYY2_HUMAN			0	1304	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.806C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032576	0.19590	.	.	ENSG00000230797	ENST00000429584	T	0.10382	2.88	4.52	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.24701	0.055	T	0.21999	-1.0229	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.5116:0.4884:0.0	.	269	O15391	TYY2_HUMAN	V	269	ENSP00000389381:A269V	ENSP00000389381:A269V	A	+	2	0	YY2	21785329	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	2.107000	0.41844	0.104000	0.17725	-0.202000	0.12741	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	310	0	0	0	1	0	5	310					T	21875408	C	T	21875408	3	4	227	1	0	0	0	0	1	0	0	0	17506	739	26	2	808	2	YY2	23	21875408	Missense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08		21875408	133395152	12	4050											
ARMCX3	51566	broad.mit.edu	37	X	100880307	100880307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:100880307C>A	ENST00000341189.4	+	5	1204	c.338C>A	c.(337-339)tCa>tAa	p.S113*	ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	113					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCCCCAATTCAGATGATACC	0.527																																						uc004ehz.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(337-339)tCa>tAa		Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 1, mRNA.							60	55	56					X																	100880307		2202	4299	6501	SO:0001587	stop_gained	51566					integral to membrane	binding	g.chrX:100880307C>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.338C>A	X.37:g.100880307C>A	ENSP00000340672:p.Ser113*		Somatic				ARMCX3_uc004eia.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.S113*|ARMCX3_uc022cap.1_Nonsense_Mutation_p.S113*	p.S113*	NM_016607	NP_808817	WXS	Illumina GAIIx	Phase_I	Q9UH62	ARMX3_HUMAN			4	871	+			113					Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	37	c.338C>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008815	0.97998	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.08	4.08	0.47627	.	0.333185	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8572	10.7694	0.46314	0.0:1.0:0.0:0.0	.	.	.	.	X	113	.	.	S	+	2	0	ARMCX3	100766963	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.305000	0.77605	0.523000	0.50628	TCA		0.527	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		13	108	0	0	0	1	0	13	108					A	100880307	C	A	100880307	4	1	227	1	0	0	0	0	0	1	0	0	961	838	29	4	340	4	ARMCX3	23	100880307	Nonsense_Mutation	SNP	C	TCGA-EM-A1CS-01A-11D-A13W-08	79004899	100880307	54390253	13	4051											
RERE	473	broad.mit.edu	37	1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:8526058C>T	ENST00000337907.3	-	12	1764	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_ENST00000377464.1_Missense_Mutation_p.G109D|RERE_ENST00000400907.2_Missense_Mutation_p.G377D|RERE_ENST00000400908.2_Missense_Mutation_p.G377D	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	377	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				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)		CAGGGCTTTGCCAGCATCGTA	0.507																																						uc001ape.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.(1129-1131)gGc>gAc		Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.							89	74	79					1																	8526058		2203	4300	6503	SO:0001583	missense	473				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8526058C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1130G>A	1.37:g.8526058C>T	ENSP00000338629:p.Gly377Asp		Somatic				RERE_uc001apf.3_Missense_Mutation_p.G377D|RERE_uc010nzx.1_Missense_Mutation_p.G109D|RERE_uc001aph.1_Missense_Mutation_p.G377D	p.G377D	NM_012102	NP_036234	WXS	Illumina GAIIx	Phase_I	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)	11	1940	-	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)	377			ELM2.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1130G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212001	0.79240	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.98	5.98	0.97165	ELM2 domain (1);Homeodomain-like (1);	.	.	.	.	T	0.60418	0.2267	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53940	-0.8367	9	0.42905	T	0.14	-25.5195	19.4443	0.94840	0.0:1.0:0.0:0.0	.	109;377	B1AKN3;Q9P2R6	.;RERE_HUMAN	D	377;109;377;377	ENSP00000338629:G377D;ENSP00000366684:G109D;ENSP00000383699:G377D;ENSP00000383700:G377D	ENSP00000338629:G377D	G	-	2	0	RERE	8448645	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.484000	0.81180	2.847000	0.97988	0.591000	0.81541	GGC		0.507	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			3	45	0	0	0	1	0	3	45					T	8526058	C	T	8526058	3	4	228	1	0	0	0	0	1	0	0	0	13231	739	26	2	3622	2	RERE	1	8526058	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		8526058	240724563	1	4052											
DBT	1629	broad.mit.edu	37	1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:100681607A>G	ENST00000370132.4	-	6	717	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_ENST00000370131.3_Missense_Mutation_p.M235T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	235					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373																																						uc001dta.3																			0		p.M235I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(703-705)aTg>aCg		Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.							267	263	264					1																	100681607		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681607A>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.704T>C	1.37:g.100681607A>G	ENSP00000359151:p.Met235Thr		Somatic				DBT_uc010oug.2_Missense_Mutation_p.M54T|DBT_uc021oqo.1_Missense_Mutation_p.M235T	p.M235T	NM_001918	NP_001909	WXS	Illumina GAIIx	Phase_I	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	5	737	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	235					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.704T>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	a	8.818	0.936917	0.18206	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.27720	1.65;1.65	5.66	-2.48	0.06423	.	0.896444	0.09845	N	0.748330	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45716	-0.9242	10	0.13853	T	0.58	-3.6242	7.8301	0.29338	0.1473:0.1469:0.0:0.7059	.	54;235	F5H1F9;P11182	.;ODB2_HUMAN	T	54;235;235	ENSP00000359151:M235T;ENSP00000359150:M235T	ENSP00000359150:M235T	M	-	2	0	DBT	100454195	0.000000	0.05858	0.034000	0.17996	0.551000	0.35334	-0.006000	0.12833	-0.246000	0.09611	0.524000	0.50904	ATG		0.373	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		114	175	0	0	0	1	0	114	175					G	100681607	A	G	100681607	3	3	228	1	0	0	0	0	1	0	0	0	4258	217	8	3	768	3	DBT	1	100681607	Missense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	92155549	100681607	148569014	2	4053											
DENND4B	9909	broad.mit.edu	37	1	153906083	153906083	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:153906083C>T	ENST00000361217.4	-	20	3624	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1069					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGGAGTGGCGGGAAGGAGT	0.711																																						uc001fdd.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(3205-3207)cGc>cAc		Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.							7	10	9					1																	153906083		1918	4044	5962	SO:0001583	missense	9909							g.chr1:153906083C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3206G>A	1.37:g.153906083C>T	ENSP00000354597:p.Arg1069His		Somatic					p.R1069H	NM_014856	NP_055671	WXS	Illumina GAIIx	Phase_I	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		19	3607	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1069					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.3206G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904816	0.52333	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.09255	3.1;3.0	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.03739	0.0106	L	0.29908	0.895	0.50632	D	0.999889	B	0.15473	0.013	B	0.08055	0.003	T	0.29761	-1.0001	10	0.34782	T	0.22	-21.3494	11.6622	0.51354	0.0:0.9152:0.0:0.0848	.	1069	O75064	DEN4B_HUMAN	H	1069;1080	ENSP00000354597:R1069H;ENSP00000357635:R1080H	ENSP00000354597:R1069H	R	-	2	0	DENND4B	152172707	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	1.912000	0.39946	2.690000	0.91761	0.462000	0.41574	CGC		0.711	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	11	0	0	0	1	0	6	11					T	153906083	C	T	153906083	3	4	228	1	0	0	0	0	1	0	0	0	4434	768	27	1	1320	1	DENND4B	1	153906083	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	53224476	153906083	95344538	3	4054											
HMCN1	83872	broad.mit.edu	37	1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:185969305G>C	ENST00000271588.4	+	26	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1335Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1335	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(4003-4005)Gag>Cag		Homo sapiens hemicentin 1 (HMCN1), mRNA.							136	122	127					1																	185969305		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969305G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4003G>C	1.37:g.185969305G>C	ENSP00000271588:p.Glu1335Gln		Somatic					p.E1335Q	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			25	4232	+			1335			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4003G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851419	0.71719	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	5.25	4.33	0.51752	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147231	0.64402	N	0.000013	T	0.60248	0.2254	N	0.21194	0.64	0.52501	D	0.999957	D	0.57571	0.98	P	0.51895	0.683	T	0.55541	-0.8125	10	0.19590	T	0.45	.	13.7888	0.63126	0.0741:0.0:0.9259:0.0	.	1335	Q96RW7	HMCN1_HUMAN	Q	1335	ENSP00000271588:E1335Q;ENSP00000356462:E1335Q	ENSP00000271588:E1335Q	E	+	1	0	HMCN1	184235928	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	9.188000	0.94921	1.205000	0.43262	0.558000	0.71614	GAG		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		67	68	0	0	0	1	0	67	68					C	185969305	G	C	185969305	3	2	228	1	0	0	0	0	1	0	0	0	7220	1175	41	4	4105	4	HMCN1	1	185969305	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	32063222	185969305	63281316	4	4055											
C2orf78	388960	broad.mit.edu	37	2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr2:74043556C>T	ENST00000409561.1	+	3	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537																																						uc002sjr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(2206-2208)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.							199	203	202					2																	74043556		2080	4203	6283	SO:0001583	missense	388960							g.chr2:74043556C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2206C>T	2.37:g.74043556C>T	ENSP00000387124:p.Arg736Trp		Somatic					p.R736W	NM_001080474	NP_001073943	WXS	Illumina GAIIx	Phase_I	A6NCI8	CB078_HUMAN			2	2327	+			736						Missense_Mutation	SNP	ENST00000409561.1	37	c.2206C>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177736	0.57692	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.56776	0.44	5.23	4.36	0.52297	.	0.000000	0.46145	D	0.000316	T	0.70193	0.3196	M	0.79475	2.455	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62941	-0.6747	10	0.87932	D	0	-12.3262	10.1035	0.42519	0.0:0.9067:0.0:0.0933	.	736	A6NCI8	CB078_HUMAN	W	736;706	ENSP00000387124:R736W	ENSP00000340692:R706W	R	+	1	2	C2orf78	73897064	0.593000	0.26840	0.023000	0.16930	0.004000	0.04260	0.496000	0.22499	1.360000	0.45960	-0.253000	0.11424	CGG		0.537	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		8	195	0	0	0	1	0	8	195					T	74043556	C	T	74043556	3	4	228	1	0	0	0	0	1	0	0	0	2195	875	31	1	2216	1	C2orf78	2	74043556	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		74043556	169155817	5	4056											
DNASE1L3	1776	broad.mit.edu	37	3	58196616	58196616	+	Silent	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:58196616G>C	ENST00000394549.2	-	1	334	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_ENST00000486455.1_Silent_p.A6A|DNASE1L3_ENST00000318316.3_Silent_p.A6A|DNASE1L3_ENST00000483681.1_Silent_p.A6A	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	6					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	uc003djo.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(16-18)gcC>gcG		Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.							100	91	94					3																	58196616		2203	4300	6503	SO:0001819	synonymous_variant	1776				DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196616G>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.18C>G	3.37:g.58196616G>C			Somatic				DNASE1L3_uc011bfd.1_Silent_p.A6A|DNASE1L3_uc003djp.1_Silent_p.A6A|DNASE1L3_uc003djq.1_Silent_p.A6A	p.A6A	NM_004944	NP_004935	WXS	Illumina GAIIx	Phase_I	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	0	115	-			6					B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	c.18C>G	CCDS2886.1																																																																																				0.587	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		36	57	0	0	0	1	0	36	57					C	58196616	G	C	58196616	2	2	228	1	0	0	0	0	0	0	0	1	4663	1219	43	4		4	DNASE1L3	3	58196616	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		58196616	139825814	6	4057											
CCDC39	339829	broad.mit.edu	37	3	180334307	180334307	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:180334307T>C	ENST00000442201.2	-	18	2702	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	861					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2581-2583)caA>caG		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							44	40	41					3																	180334307		1803	4064	5867	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334307T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2583A>G	3.37:g.180334307T>C			Somatic				CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	p.Q861Q	NM_181426	NP_852091	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		17	2698	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		861					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2583A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	8.383	0.837891	0.16891	.	.	ENSG00000145075	ENST00000473854	.	.	.	5.37	-0.35	0.12606	.	.	.	.	.	T	0.44993	0.1320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	4.2205	0.10556	0.119:0.4781:0.1361:0.2669	.	.	.	.	S	45	.	.	N	-	2	0	CCDC39	181817001	0.956000	0.32656	0.946000	0.38457	0.981000	0.71138	0.011000	0.13264	-0.181000	0.10619	0.455000	0.32223	AAC		0.264	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		24	30	0	0	0	1	0	24	30					C	180334307	T	C	180334307	2	2	228	1	0	0	0	0	0	0	0	1	2811	1722	60	3		3	CCDC39	3	180334307	Silent	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	122137691	180334307	17688123	7	4058											
ADCY2	108	broad.mit.edu	37	5	7707861	7707861	+	Silent	SNP	C	C	T	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr5:7707861C>T	ENST00000338316.4	+	9	1400	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.G257G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	437					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413													C|||	10	0.00199681	0.0068	0	5008	,	,		17267	0.001		0	False		,,,				2504	0					uc003jdz.1																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1309-1311)ggC>ggT		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.		C		17,4389	25.3+/-52.1	0,17,2186	126	126	126		1311	-11.3	0.5	5	dbSNP_132	126	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADCY2	NM_020546.2		0,19,6484	TT,TC,CC		0.0233,0.3858,0.1461		437/1092	7707861	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7707861C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1311C>T	5.37:g.7707861C>T			Somatic				ADCY2_uc011cmo.1_Silent_p.G257G	p.G437G	NM_020546	NP_065433	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			8	1378	+			437					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1311C>T	CCDS3872.2																																																																																				0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		49	80	0	0	0	1	0	49	80					T	7707861	C	T	7707861	2	4	228	1	0	0	0	0	0	0	0	1	294	755	27	1		1	ADCY2	5	7707861	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		7707861	173207399	8	4059											
HIST1H2BD	3017	broad.mit.edu	37	6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr6:26158671T>C	ENST00000289316.2	+	1	298	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S92P	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	92					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627																																						uc003ngr.3																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(274-276)Tcc>Ccc		Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.							95	101	99					6																	26158671		2203	4298	6501	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158671T>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.274T>C	6.37:g.26158671T>C	ENSP00000289316:p.Ser92Pro		Somatic				HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S92P	p.S92P	NM_021063	NP_619790	WXS	Illumina GAIIx	Phase_I	P58876	H2B1D_HUMAN			0	323	+			92						Missense_Mutation	SNP	ENST00000289316.2	37	c.274T>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.734048	0.69189	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.46063	0.88;0.88	5.19	5.19	0.71726	Histone-fold (2);Histone core (1);	0.000000	0.53938	D	0.000052	T	0.39759	0.1090	M	0.88241	2.94	0.44330	D	0.997213	B	0.21688	0.059	B	0.28709	0.093	T	0.52719	-0.8538	10	0.72032	D	0.01	.	11.4472	0.50131	0.1348:0.0:0.0:0.8652	.	92	P58876	H2B1D_HUMAN	P	92	ENSP00000367008:S92P;ENSP00000289316:S92P	ENSP00000289316:S92P	S	+	1	0	HIST1H2BD	26266650	0.999000	0.42202	0.346000	0.25655	0.983000	0.72400	4.233000	0.58651	2.275000	0.75901	0.529000	0.55759	TCC		0.627	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		62	86	0	0	0	1	0	62	86					C	26158671	T	C	26158671	3	2	228	1	0	0	0	0	1	0	0	0	7143	1551	54	3	276	3	HIST1H2BD	6	26158671	Missense_Mutation	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08		26158671	144956396	9	4060											
GPNMB	10457	broad.mit.edu	37	7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:23293036G>T	ENST00000381990.2	+	2	342	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.V61L|GPNMB_ENST00000453162.2_Missense_Mutation_p.V61L|GPNMB_ENST00000409458.3_Missense_Mutation_p.V61L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	61					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433																																						uc003swc.3																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(181-183)Gtg>Ttg		Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.							103	104	103					7																	23293036		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293036G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.181G>T	7.37:g.23293036G>T	ENSP00000371420:p.Val61Leu		Somatic				GPNMB_uc003swa.2_Missense_Mutation_p.V61L|GPNMB_uc003swb.3_Missense_Mutation_p.V61L|GPNMB_uc011jyy.2_Missense_Mutation_p.V61L|GPNMB_uc011jyz.2_Intron	p.V61L	NM_001005340	NP_001005340	WXS	Illumina GAIIx	Phase_I	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		1	342	+			61					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.181G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101360	0.56183	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.14766	2.48;2.49;2.49	5.44	3.52	0.40303	.	0.172297	0.38837	N	0.001541	T	0.29882	0.0747	M	0.79805	2.47	0.22317	N	0.999202	P;P;D;P	0.67145	0.749;0.937;0.996;0.949	B;P;D;P	0.76071	0.441;0.506;0.987;0.712	T	0.15235	-1.0444	10	0.23891	T	0.37	-16.5726	3.7904	0.08718	0.0833:0.1178:0.4988:0.3001	.	61;61;61;61	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	L	61;96;61;61;61	ENSP00000258733:V61L;ENSP00000371420:V61L;ENSP00000405586:V61L	ENSP00000258733:V61L	V	+	1	0	GPNMB	23259561	0.993000	0.37304	1.000000	0.80357	0.969000	0.65631	1.554000	0.36266	1.280000	0.44463	0.650000	0.86243	GTG		0.433	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		4	80	0	0	0	1	0	4	80					T	23293036	G	T	23293036	3	4	228	1	0	0	0	0	1	0	0	0	6620	1029	36	4	187	4	GPNMB	7	23293036	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		23293036	135845627	10	4061											
PIK3CG	5294	broad.mit.edu	37	7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:106509419C>A	ENST00000359195.3	+	2	1723	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H471Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H471Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	471	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1411-1413)caC>caA		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							111	106	108					7																	106509419		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509419C>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1413C>A	7.37:g.106509419C>A	ENSP00000352121:p.His471Gln		Somatic				PIK3CG_uc003vdu.3_Missense_Mutation_p.H471Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.H471Q	p.H471Q	NM_002649	NP_002640	WXS	Illumina GAIIx	Phase_I	P48736	PK3CG_HUMAN			1	1498	+			471					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1413C>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312499	0.60414	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.77229	-1.08;-1.08;-1.08	6.02	5.13	0.70059	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	M	0.69823	2.125	0.80722	D	1	P	0.52316	0.952	P	0.58331	0.837	D	0.85891	0.1428	10	0.49607	T	0.09	-37.4831	15.5857	0.76479	0.0:0.9336:0.0:0.0664	.	471	P48736	PK3CG_HUMAN	Q	471	ENSP00000392258:H471Q;ENSP00000419260:H471Q;ENSP00000352121:H471Q	ENSP00000352121:H471Q	H	+	3	2	PIK3CG	106296655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	1.537000	0.49254	0.655000	0.94253	CAC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			46	75	0	0	0	1	0	46	75					A	106509419	C	A	106509419	3	1	228	1	0	0	0	0	1	0	0	0	11916	506	18	4	1415	4	PIK3CG	7	106509419	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	83216383	106509419	52629244	11	4062											
DOCK4	9732	broad.mit.edu	37	7	111484884	111484884	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:111484884A>G	ENST00000437633.1	-	25	2927	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_ENST00000428084.1_Silent_p.L891L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	891					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2671-2673)Ttg>Ctg		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							149	148	148					7																	111484884		1977	4169	6146	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	g.chr7:111484884A>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2671T>C	7.37:g.111484884A>G			Somatic				DOCK4_uc003vfw.3_Silent_p.L332L|DOCK4_uc003vfx.3_Silent_p.L891L	p.L891L	NM_014705	NP_055520	WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			24	2940	-		Acute lymphoblastic leukemia(1;0.0441)	891					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2671T>C	CCDS47688.1																																																																																				0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		9	174	0	0	0	1	0	9	174					G	111484884	A	G	111484884	2	3	228	1	0	0	0	0	0	0	0	1	4689	98	4	3		3	DOCK4	7	111484884	Silent	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	4975465	111484884	47653779	12	4063											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	66	0	0	0	1	0	36	66					T	140453136	A	T	140453136	3	4	228	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08	28968252	140453136	18685527	13	4064											
TEX15	56154	broad.mit.edu	37	8	30694875	30694875	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:30694875C>T	ENST00000256246.2	-	3	7850	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2592					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7774-7776)gtG>gtA		Homo sapiens testis expressed 15 (TEX15), mRNA.							94	92	93					8																	30694875		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30694875C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7776G>A	8.37:g.30694875C>T			Somatic					p.V2592V	NM_031271	NP_112561	WXS	Illumina GAIIx	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	2	7776	-			2592						Silent	SNP	ENST00000256246.2	37	c.7776G>A	CCDS6080.1																																																																																				0.378	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			61	100	0	0	0	1	0	61	100					T	30694875	C	T	30694875	2	4	228	1	0	0	0	0	0	0	0	1	15776	697	25	2		2	TEX15	8	30694875	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		30694875	115669147	14	4065											
ZFAND1	79752	broad.mit.edu	37	8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:82614952T>A	ENST00000220669.5	-	8	803	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_ENST00000521287.1_Missense_Mutation_p.N155I|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.N255I|ZFAND1_ENST00000521895.1_3'UTR|ZFAND1_ENST00000522520.1_Missense_Mutation_p.N155I	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	262							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294																																						uc003ycj.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(784-786)aAt>aTt		Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.							56	60	59					8																	82614952		2201	4294	6495	SO:0001583	missense	79752						zinc ion binding	g.chr8:82614952T>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"Zinc fingers, AN1-type domain containing"	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.785A>T	8.37:g.82614952T>A	ENSP00000220669:p.Asn262Ile		Somatic				ZFAND1_uc010lzx.2_Missense_Mutation_p.N255I|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Missense_Mutation_p.N155I|ZFAND1_uc003yck.2_Missense_Mutation_p.N155I	p.N262I	NM_024699	NP_078975	WXS	Illumina GAIIx	Phase_I	Q8TCF1	ZFAN1_HUMAN			7	808	-			262					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	c.785A>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.042653	0.55003	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521287	.	.	.	5.62	5.62	0.85841	.	0.202886	0.49916	D	0.000128	T	0.54191	0.1843	L	0.36672	1.1	0.80722	D	1	P;P	0.44478	0.836;0.836	B;B	0.44224	0.444;0.444	T	0.60052	-0.7338	9	0.87932	D	0	.	15.8121	0.78573	0.0:0.0:0.0:1.0	.	255;262	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	I	255;262;155;155	.	ENSP00000220669:N262I	N	-	2	0	ZFAND1	82777507	1.000000	0.71417	0.965000	0.40720	0.195000	0.23768	6.826000	0.75298	2.146000	0.66826	0.397000	0.26171	AAT		0.294	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		48	73	0	0	0	1	0	48	73					A	82614952	T	A	82614952	3	1	228	1	0	0	0	0	1	0	0	0	17623	1493	52	5	25	5	ZFAND1	8	82614952	Missense_Mutation	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	51920077	82614952	63749070	15	4066											
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						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)			GGGCCGTGCCGGGCCGCAGCA	0.726																																						uc003zaa.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.(6766-6768)ccC>ccT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							47	45	46					8																	144940654		2171	4256	6427	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940654G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6768C>T	8.37:g.144940654G>A			Somatic					p.P2256P	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	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)		0	6781	-	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)		2256					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6768C>T																																																																																					0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	39	0	0	0	1	0	3	39					A	144940654	G	A	144940654	2	1	228	1	0	0	0	0	0	0	0	1	5190	1103	39	1		1	EPPK1	8	144940654	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	62325702	144940654	1423368	16	4067											
ATM	472	broad.mit.edu	37	11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:108178672delC	ENST00000452508.2	+	39	5912	c.5723delC	c.(5722-5724)acafs	p.T1908fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.T1908fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1908					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCACAAAGAACAATGCTTGCT	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5722-5724)acafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							165	149	154					11																	108178672		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108178672delC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5723delC	11.37:g.108178672delC	ENSP00000388058:p.Thr1908fs	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Frame_Shift_Del_p.T1908fs|ATM_uc001pke.2_Frame_Shift_Del_p.T560fs|ATM_uc001pkg.1_Frame_Shift_Del_p.T265fs|ATM_uc009yxt.1_Intron	p.T1908fs	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	6108	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1908					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.5723delC	CCDS31669.1																																																																																				0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		23	43						23	43	---	---	---	---	-	108178672	C	-	108178672	7	5	228	1	0	1	0	1	0	0	0	0	1109	478	17	0	5869	0	ATM	11	108178672	Frame_Shift_Del	DEL	C	TCGA-EM-A1CT-01A-11D-A13W-08		108178672	26827844	17	4068											
SCN3B	55800	broad.mit.edu	37	11	123513260	123513260	+	Silent	SNP	G	G	A	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:123513260G>A	ENST00000392770.2	-	3	1141	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_ENST00000299333.3_Silent_p.N113N|SCN3B_ENST00000530277.1_Silent_p.N113N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	113	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCCAGAGTCGTTCAGAGTGA	0.602													G|||	1	0.000199681	0	0	5008	,	,		19306	0.001		0	False		,,,				2504	0					uc001pza.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(337-339)aaC>aaT		Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.		G	,	0,4404		0,0,2202	106	99	101		339,339	-10.3	0.7	11	dbSNP_134	101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SCN3B	NM_001040151.1,NM_018400.3	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	113/216,113/216	123513260	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513260G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.339C>T	11.37:g.123513260G>A			Somatic				SCN3B_uc001pzb.1_Silent_p.N113N	p.N113N	NM_001040151	NP_060870	WXS	Illumina GAIIx	Phase_I	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	746	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	113			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.339C>T	CCDS8442.1																																																																																				0.602	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		5	97	0	0	0	1	0	5	97					A	123513260	G	A	123513260	2	1	228	1	0	0	0	0	0	0	0	1	13919	1136	40	1		1	SCN3B	11	123513260	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08	15334588	123513260	11493256	18	4069											
VSIG2	23584	broad.mit.edu	37	11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:124618648C>T	ENST00000326621.5	-	5	698	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	RP11-677M14.2_ENST00000531241.1_RNA|VSIG2_ENST00000403470.1_Missense_Mutation_p.G200S	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	200	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537																																						uc001qas.3																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(598-600)Ggc>Agc		Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.							152	124	133					11																	124618648		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618648C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.598G>A	11.37:g.124618648C>T	ENSP00000318684:p.Gly200Ser		Somatic				VSIG2_uc001qat.3_Missense_Mutation_p.G200S	p.G200S	NM_014312	NP_055127	WXS	Illumina GAIIx	Phase_I	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	4	674	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	200			Ig-like C2-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.598G>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974024	0.92919	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.12774	2.65;2.65	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.38957	0.1060	M	0.77486	2.375	0.46798	D	0.999208	D	0.89917	1.0	D	0.91635	0.999	T	0.09250	-1.0683	10	0.66056	D	0.02	.	14.6271	0.68629	0.0:1.0:0.0:0.0	.	200	Q96IQ7	VSIG2_HUMAN	S	200	ENSP00000318684:G200S;ENSP00000385013:G200S	ENSP00000318684:G200S	G	-	1	0	VSIG2	124123858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.370000	0.59517	2.835000	0.97688	0.591000	0.81541	GGC		0.537	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		19	28	0	0	0	1	0	19	28					T	124618648	C	T	124618648	3	4	228	1	0	0	0	0	1	0	0	0	17221	594	21	2	397	2	VSIG2	11	124618648	Missense_Mutation	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	1105388	124618648	10387868	19	4070											
SLC4A8	9498	broad.mit.edu	37	12	51855027	51855027	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:51855027G>A	ENST00000453097.2	+	9	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_ENST00000394856.1_Silent_p.Q298Q|SLC4A8_ENST00000514353.3_Silent_p.Q298Q|SLC4A8_ENST00000358657.3_Silent_p.Q378Q|SLC4A8_ENST00000535225.2_Silent_p.Q298Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAAAGGTCAGCAGTACCATG	0.378																																						uc001rys.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1051-1053)caG>caA		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.							154	140	145					12																	51855027		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51855027G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1053G>A	12.37:g.51855027G>A			Somatic				SLC4A8_uc010sni.2_Silent_p.Q298Q|SLC4A8_uc001rym.3_Silent_p.Q298Q|SLC4A8_uc001ryn.3_Silent_p.Q298Q|SLC4A8_uc001ryo.2_Silent_p.Q298Q|SLC4A8_uc001ryp.1_Silent_p.Q298Q|SLC4A8_uc010snj.2_Silent_p.Q378Q|SLC4A8_uc001ryq.4_Silent_p.Q351Q|SLC4A8_uc001ryr.3_Silent_p.Q351Q|SLC4A8_uc010snk.2_Silent_p.Q298Q	p.Q351Q	NM_001039960	NP_001035049	WXS	Illumina GAIIx	Phase_I	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	8	1231	+			351						Silent	SNP	ENST00000453097.2	37	c.1053G>A	CCDS44890.1																																																																																				0.378	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		3	54	0	0	0	1	0	3	54					A	51855027	G	A	51855027	2	1	228	1	0	0	0	0	0	0	0	1	14659	962	34	2		2	SLC4A8	12	51855027	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		51855027	81996868	20	4071											
CEP290	80184	broad.mit.edu	37	12	88514828	88514828	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:88514828C>T	ENST00000552810.1	-	14	1648	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Silent_p.R435R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	435					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358																																						uc001tar.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1303-1305)agG>agA		Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.							122	115	117					12																	88514828		1852	4086	5938	SO:0001819	synonymous_variant	80184				G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514828C>T	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1305G>A	12.37:g.88514828C>T			Somatic				CEP290_uc001tat.3_Silent_p.R197R|CEP290_uc009zsl.1_Non-coding_Transcript	p.R435R	NM_025114	NP_079390	WXS	Illumina GAIIx	Phase_I	O15078	CE290_HUMAN			13	1649	-			435					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.1305G>A	CCDS55858.1																																																																																				0.358	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		17	44	0	0	0	1	0	17	44					T	88514828	C	T	88514828	2	4	228	1	0	0	0	0	0	0	0	1	3253	622	22	2		2	CEP290	12	88514828	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	36659801	88514828	45337067	21	4072											
TMPO	7112	broad.mit.edu	37	12	98927427	98927427	+	Intron	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:98927427T>C	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Silent_p.V464V|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423																																						uc001tfh.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1390-1392)gtT>gtC		Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.							160	134	143					12																	98927427		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927427T>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1811T>C	12.37:g.98927427T>C			Somatic				TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	p.V464V	NM_003276	NP_003267	WXS	Illumina GAIIx	Phase_I	P42167	LAP2B_HUMAN			3	1687	+			0					A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.1392T>C	CCDS31879.1																																																																																				0.423	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		37	57	0	0	0	1	0	37	57					C	98927427	T	C	98927427	1	2	228	0	1	0	0	0	0	0	0	0	16234	1799	63	3		3	TMPO	12	98927427	Intron	SNP	T	TCGA-EM-A1CT-01A-11D-A13W-08	10412599	98927427	34924468	22	4073											
MPHOSPH8	54737	broad.mit.edu	37	13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:20220952A>T	ENST00000361479.5	+	3	807	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.K247*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	247	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313																																						uc001umg.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(739-741)Aaa>Taa		Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.							27	32	30					13																	20220952		2126	4249	6375	SO:0001587	stop_gained	54737				cell cycle	cytoplasm|nucleus		g.chr13:20220952A>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.739A>T	13.37:g.20220952A>T	ENSP00000355388:p.Lys247*		Somatic				MPHOSPH8_uc001umh.3_Nonsense_Mutation_p.K247*|MPHOSPH8_uc001umi.3_5'UTR	p.K247*	NM_017520	NP_059990	WXS	Illumina GAIIx	Phase_I	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	2	840	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	247			Lys-rich.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Nonsense_Mutation	SNP	ENST00000361479.5	37	c.739A>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	38	6.778124	0.97833	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	.	.	.	6.02	6.02	0.97574	.	0.233845	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000355388:K247X	K	+	1	0	MPHOSPH8	19118952	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.108000	0.77055	2.304000	0.77564	0.528000	0.53228	AAA		0.313	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		32	48	0	0	0	1	0	32	48					T	20220952	A	T	20220952	4	4	228	1	0	0	0	0	0	1	0	0	9727	131	5	5	749	5	MPHOSPH8	13	20220952	Nonsense_Mutation	SNP	A	TCGA-EM-A1CT-01A-11D-A13W-08		20220952	94948926	23	4074											
NALCN	259232	broad.mit.edu	37	13	101735461	101735461	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:101735461C>T	ENST00000251127.6	-	32	3753	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1224					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3670-3672)tcG>tcA		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							128	125	126					13																	101735461		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735461C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3672G>A	13.37:g.101735461C>T			Somatic					p.S1224S	NM_052867	NP_443099	WXS	Illumina GAIIx	Phase_I	Q8IZF0	NALCN_HUMAN			31	3861	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1224					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.3672G>A	CCDS9498.1																																																																																				0.413	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		25	42	0	0	0	1	0	25	42					T	101735461	C	T	101735461	2	4	228	1	0	0	0	0	0	0	0	1	10148	639	23	1		1	NALCN	13	101735461	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08	81514509	101735461	13434417	24	4075											
SERPINA9	327657	broad.mit.edu	37	14	94936076	94936076	+	Silent	SNP	G	G	A	rs375474833	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr14:94936076G>A	ENST00000380365.3	-	2	180	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Silent_p.S52S|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000337425.5_Silent_p.S52S|SERPINA9_ENST00000546329.1_Intron			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	34					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)		TCTTTGTGGAGGAAGGGCGGG	0.562													G|||	2	0.000399361	0.0015	0	5008	,	,		17762	0		0	False		,,,				2504	0					uc001ydf.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(154-156)tcC>tcT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.		G	,	11,4003		0,11,1996	83	86	85		156,156	2.1	0.0	14		85	0,8332		0,0,4166	no	coding-synonymous,coding-synonymous	SERPINA9	NM_001042518.1,NM_175739.3	,	0,11,6162	AA,AG,GG		0.0,0.274,0.0891	,	52/336,52/436	94936076	11,12335	2007	4166	6173	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936076G>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.102C>T	14.37:g.94936076G>A			Somatic				SERPINA9_uc001yde.3_Silent_p.S52S|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Silent_p.S52S|SERPINA9_uc001ydi.1_Intron	p.S52S	NM_175739	NP_783866	WXS	Illumina GAIIx	Phase_I	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	1	317	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	34					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.156C>T																																																																																					0.562	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		27	50	0	0	0	1	0	27	50					A	94936076	G	A	94936076	2	1	228	1	0	0	0	0	0	0	0	1	14095	987	35	2		2	SERPINA9	14	94936076	Silent	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		94936076	12413464	25	4076											
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A	rs569028644		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr20:62421407G>A	ENST00000245663.4	-	2	854	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P235L|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P235L	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	235					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|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)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602																																						uc002ygv.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(703-705)cCg>cTg		Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.							83	76	78					20																	62421407		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421407G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.704C>T	20.37:g.62421407G>A	ENSP00000245663:p.Pro235Leu		Somatic				ZBTB46_uc002ygu.3_Non-coding_Transcript	p.P235L	NM_025224	NP_079500	WXS	Illumina GAIIx	Phase_I	Q86UZ6	ZBT46_HUMAN			1	905	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		235					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.704C>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224409	0.58668	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.20069	2.1;2.1;2.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08391	-1.0724	10	0.36615	T	0.2	.	19.0349	0.92972	0.0:0.0:1.0:0.0	.	235	Q86UZ6	ZBT46_HUMAN	L	235	ENSP00000245663:P235L;ENSP00000303102:P235L;ENSP00000378536:P235L	ENSP00000245663:P235L	P	-	2	0	ZBTB46	61891851	1.000000	0.71417	0.563000	0.28383	0.014000	0.08584	7.419000	0.80179	2.749000	0.94314	0.655000	0.94253	CCG		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		3	43	0	0	0	1	0	3	43					A	62421407	G	A	62421407	3	1	228	1	0	0	0	0	1	0	0	0	17544	1116	39	1	1081	1	ZBTB46	20	62421407	Missense_Mutation	SNP	G	TCGA-EM-A1CT-01A-11D-A13W-08		62421407	604113	26	4077											
TBC1D25	4943	broad.mit.edu	37	X	48403341	48403341	+	Silent	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrX:48403341C>A	ENST00000376771.4	+	3	659	c.318C>A	c.(316-318)ctC>ctA	p.L106L	TBC1D25_ENST00000476141.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	106					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562																																						uc011mmb.1																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(328-330)ctC>ctA		Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.							102	82	89					X																	48403341		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48403341C>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.318C>A	X.37:g.48403341C>A			Somatic				TBC1D25_uc004dka.1_Silent_p.L106L|TBC1D25_uc011mly.1_Silent_p.L48L|TBC1D25_uc004dkb.1_Intron|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_Intron|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_Intron	p.L110L	NM_002536	NP_002527	WXS	Illumina GAIIx	Phase_I	Q3MII6	TBC25_HUMAN			2	416	+			106					Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.330C>A	CCDS35242.1																																																																																				0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		3	34	0	0	0	1	0	3	34					A	48403341	C	A	48403341	2	1	228	1	0	0	0	0	0	0	0	1	15612	813	29	4		4	TBC1D25	23	48403341	Silent	SNP	C	TCGA-EM-A1CT-01A-11D-A13W-08		48403341	106867219	27	4078											
FAM179A	165186	broad.mit.edu	37	2	29226385	29226385	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:29226385T>A	ENST00000379558.4	+	6	1018	c.667T>A	c.(667-669)Tgc>Agc	p.C223S	FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	223										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATACCTGCACTGCAATGATGA	0.622																																						uc010ezl.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(667-669)Tgc>Agc		Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.							34	40	38					2																	29226385		2091	4205	6296	SO:0001583	missense	165186						binding	g.chr2:29226385T>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.667T>A	2.37:g.29226385T>A	ENSP00000368876:p.Cys223Ser		Somatic				FAM179A_uc010ymm.2_Missense_Mutation_p.C223S	p.C223S	NM_199280	NP_954974	WXS	Illumina GAIIx	Phase_I	Q6ZUX3	F179A_HUMAN			5	1018	+			223					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.667T>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443235	0.43429	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.44482	1.69;0.92	5.01	5.01	0.66863	.	.	.	.	.	T	0.31231	0.0790	L	0.32530	0.975	0.30849	N	0.734831	B;B	0.12630	0.006;0.003	B;B	0.12156	0.007;0.005	T	0.23547	-1.0185	9	0.19147	T	0.46	.	11.1094	0.48223	0.0:0.0:0.0:1.0	.	223;223	F8W8E4;Q6ZUX3	.;F179A_HUMAN	S	223	ENSP00000368876:C223S;ENSP00000384699:C223S	ENSP00000368876:C223S	C	+	1	0	FAM179A	29079889	0.991000	0.36638	0.995000	0.50966	0.650000	0.38633	1.328000	0.33758	1.889000	0.54706	0.402000	0.26972	TGC		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	4	0	0	0	1	0	4	4					A	29226385	T	A	29226385	3	1	229	1	0	0	0	0	1	0	0	0	5505	1580	55	5	685	5	FAM179A	2	29226385	Missense_Mutation	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08		29226385	213972988	1	4079											
GLI2	2736	broad.mit.edu	37	2	121748118	121748118	+	Missense_Mutation	SNP	G	G	A	rs138987487	byFrequency	TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:121748118G>A	ENST00000452319.1	+	14	4688	c.4628G>A	c.(4627-4629)cGc>cAc	p.R1543H	GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|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)				AACTCCTCCCGCCTCACCACC	0.612													G|||	3	0.000599042	0	0	5008	,	,		16808	0.001		0.002	False		,,,				2504	0					uc010flp.3																			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.(4627-4629)cGc>cAc		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.		G	HIS/ARG	0,4406		0,0,2203	113	131	125		4628	5.0	1.0	2	dbSNP_134	125	6,8594	5.0+/-18.6	0,6,4294	yes	missense	GLI2	NM_005270.4	29	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	1543/1587	121748118	6,13000	2203	4300	6503	SO:0001583	missense	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.chr2:121748118G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4628G>A	2.37:g.121748118G>A	ENSP00000390436:p.Arg1543His		Somatic				GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.R1215H|GLI2_uc002tmu.4_Missense_Mutation_p.R1198H	p.R1543H	NM_005270	NP_005261	WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			12	4658	+	Renal(3;0.0496)	Prostate(154;0.0623)	1543						Missense_Mutation	SNP	ENST00000452319.1	37	c.4628G>A	CCDS33283.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	29.3	4.995231	0.93167	0.0	6.98E-4	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	.	0.054412	0.64402	D	0.000001	T	0.53110	0.1776	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66847	0.886;0.947	T	0.53315	-0.8456	10	0.54805	T	0.06	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	1543;1198	P10070;P10070-2	GLI2_HUMAN;.	H	1543	ENSP00000390436:R1543H;ENSP00000354586:R1543H	ENSP00000354586:R1543H	R	+	2	0	GLI2	121464588	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.657000	0.98554	2.581000	0.87130	0.555000	0.69702	CGC		0.612	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		15	112	0	0	0	1	0	15	112					A	121748118	G	A	121748118	3	1	229	1	0	0	0	0	1	0	0	0	6438	1087	38	1	4678	1	GLI2	2	121748118	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	92521733	121748118	121451255	2	4080											
UGT1A1	54658	broad.mit.edu	37	2	234669699	234669699	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr2:234669699T>C	ENST00000608383.1	+	1	766	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	UGT1A1_ENST00000360418.3_Missense_Mutation_p.F256L|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	256					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGTCTGGCTGTTTAGAAGTGA	0.483																																						uc002vvb.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(766-768)Ttt>Ctt		Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1), mRNA.	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						180	177	178					2																	234669699		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669699T>C	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.766T>C	2.37:g.234669699T>C	ENSP00000476741:p.Phe256Leu		Somatic				UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.F256L	p.F256L	NM_000463	NP_000454	WXS	Illumina GAIIx	Phase_I	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	0	781	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	256					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.766T>C	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.453833	0.01071	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.51817	0.69;0.69	5.55	-11.1	0.00147	.	.	.	.	.	T	0.10078	0.0247	N	0.00514	-1.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.20384	0.029;0.002	T	0.19031	-1.0318	9	0.15952	T	0.53	.	2.1448	0.03784	0.3579:0.2102:0.0693:0.3626	.	256;256	A6NJC3;P22309	.;UD11_HUMAN	L	256	ENSP00000304845:F256L;ENSP00000353593:F256L	ENSP00000304845:F256L	F	+	1	0	UGT1A1	234334438	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-3.863000	0.00347	-3.237000	0.00208	-1.139000	0.01908	TTT		0.483	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				5	184	0	0	0	1	0	5	184					C	234669699	T	C	234669699	3	2	229	1	0	0	0	0	1	0	0	0	16941	1725	60	3	768	3	UGT1A1	2	234669699	Missense_Mutation	SNP	T	TCGA-EM-A1CU-01A-11D-A13W-08	112921581	234669699	8529674	3	4081											
CAMKV	79012	broad.mit.edu	37	3	49898222	49898222	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:49898222C>A	ENST00000477224.1	-	8	1180	c.702G>T	c.(700-702)aaG>aaT	p.K234N	CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGAAGAGATTCTTATCATGGT	0.502																																						uc003cxt.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(700-702)aaG>aaT		Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.							197	193	194					3																	49898222		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898222C>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.702G>T	3.37:g.49898222C>A	ENSP00000419195:p.Lys234Asn		Somatic				CAMKV_uc011bcy.1_Missense_Mutation_p.K159N|CAMKV_uc003cxv.1_Missense_Mutation_p.K206N|CAMKV_uc003cxw.1_Missense_Mutation_p.K66N|CAMKV_uc003cxx.1_Missense_Mutation_p.K66N|CAMKV_uc003cxu.2_Missense_Mutation_p.K234N|CAMKV_uc011bcz.1_Missense_Mutation_p.K197N|CAMKV_uc011bda.1_Missense_Mutation_p.K191N|CAMKV_uc011bdb.1_Non-coding_Transcript	p.K234N	NM_024046	NP_076951	WXS	Illumina GAIIx	Phase_I	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	7	895	-			234			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.702G>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491901	0.44352	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.21	2.22	0.28083	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	0.44483	D	0.000447	T	0.59865	0.2225	N	0.21324	0.655	0.50039	D	0.99984	D;D;D;D;D;D;D	0.76494	0.992;0.997;0.996;0.996;0.996;0.999;0.996	P;D;D;D;P;D;D	0.70935	0.872;0.971;0.935;0.935;0.893;0.936;0.935	T	0.59820	-0.7382	10	0.54805	T	0.06	.	5.51	0.16876	0.0:0.5709:0.1464:0.2827	.	191;197;234;159;206;234;234	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	N	206;234;234;234;159;191	ENSP00000296471:K206N;ENSP00000418809:K234N;ENSP00000417614:K234N;ENSP00000419195:K234N;ENSP00000420053:K159N;ENSP00000420724:K191N	ENSP00000296471:K206N	K	-	3	2	CAMKV	49873226	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.599000	0.36751	1.322000	0.45245	0.561000	0.74099	AAG		0.502	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		21	142	0	0	0	1	0	21	142					A	49898222	C	A	49898222	3	1	229	1	0	0	0	0	1	0	0	0	2608	912	32	4	819	4	CAMKV	3	49898222	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		49898222	148124208	4	4082											
BBX	56987	broad.mit.edu	37	3	107429455	107429455	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:107429455G>A	ENST00000325805.8	+	4	435	c.148G>A	c.(148-150)Gag>Aag	p.E50K	BBX_ENST00000415149.2_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	50	Poly-Glu.				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)			agacgaagaggaggaTATTGA	0.348																																						uc010hpr.3																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(148-150)Gag>Aag		Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.							64	59	61					3																	107429455		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107429455G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.148G>A	3.37:g.107429455G>A	ENSP00000319974:p.Glu50Lys		Somatic				BBX_uc003dwk.4_Missense_Mutation_p.E50K|BBX_uc003dwl.4_Missense_Mutation_p.E50K|BBX_uc010hps.1_Missense_Mutation_p.E71K|BBX_uc003dwm.4_Missense_Mutation_p.E50K	p.E50K	NM_001142568	NP_001136040	WXS	Illumina GAIIx	Phase_I	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		3	475	+			50			Poly-Glu.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.148G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444084	0.63067	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98701	-4.57;-4.59;-4.59;-4.96;-5.05;-4.94;-4.96;-5.08;-4.57;-4.36;-1.84;-4.53;-4.53	5.66	5.66	0.87406	.	0.367561	0.33834	N	0.004512	D	0.98362	0.9456	L	0.27053	0.805	0.58432	D	0.999998	B;B;D;B	0.69078	0.001;0.001;0.997;0.0	B;B;D;B	0.75020	0.004;0.003;0.985;0.001	D	0.99913	1.1210	10	0.87932	D	0	-2.6004	19.7304	0.96180	0.0:0.0:1.0:0.0	.	50;50;50;50	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	K	50	ENSP00000408358:E50K;ENSP00000385317:E50K;ENSP00000319974:E50K;ENSP00000413320:E50K;ENSP00000403860:E50K;ENSP00000408297:E50K;ENSP00000413274:E50K;ENSP00000385518:E50K;ENSP00000385530:E50K;ENSP00000403806:E50K;ENSP00000406554:E50K;ENSP00000407662:E50K;ENSP00000414673:E50K	ENSP00000319974:E50K	E	+	1	0	BBX	108912145	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.937000	0.75898	2.836000	0.97738	0.650000	0.86243	GAG		0.348	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		6	33	0	0	0	1	0	6	33					A	107429455	G	A	107429455	3	1	229	1	0	0	0	0	1	0	0	0	1343	1175	41	2	150	2	BBX	3	107429455	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	57531233	107429455	90592975	5	4083											
ABCC5	10057	broad.mit.edu	37	3	183655701	183655701	+	Missense_Mutation	SNP	C	C	A	rs377607475		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr3:183655701C>A	ENST00000334444.6	-	26	4082	c.3842G>T	c.(3841-3843)aGt>aTt	p.S1281I	ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1281	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GACAGTGCCACTGAACAGCAC	0.552																																						uc003fmg.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3841-3843)aGt>aTt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.		C	ILE/SER	0,4248		0,0,2124	67	70	69		3842	5.5	1.0	3		69	1,8475		0,1,4237	no	missense	ABCC5	NM_005688.2	142	0,1,6361	AA,AC,CC		0.0118,0.0,0.0079	benign	1281/1438	183655701	1,12723	2124	4238	6362	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655701C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3842G>T	3.37:g.183655701C>A	ENSP00000333926:p.Ser1281Ile		Somatic				ABCC5_uc011bqt.2_Missense_Mutation_p.S809I|ABCC5_uc010hxl.3_Missense_Mutation_p.S1238I	p.S1281I	NM_005688	NP_005679	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		25	4007	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1281			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3842G>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773689	0.16051	0.0	1.18E-4	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.94138	-3.36;-3.36	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.044196	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89095	3.005	0.58432	D	0.999999	B;P	0.42039	0.015;0.769	B;P	0.45829	0.048;0.494	D	0.94019	0.7291	10	0.18710	T	0.47	-16.0933	19.3693	0.94479	0.0:1.0:0.0:0.0	.	1238;1281	Q86UX3;O15440	.;MRP5_HUMAN	I	1281;1238	ENSP00000333926:S1281I;ENSP00000265586:S1238I	ENSP00000265586:S1238I	S	-	2	0	ABCC5	185138395	0.980000	0.34600	0.998000	0.56505	0.975000	0.68041	2.506000	0.45433	2.583000	0.87209	0.655000	0.94253	AGT		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		9	49	0	0	0	1	0	9	49					A	183655701	C	A	183655701	3	1	229	1	0	0	0	0	1	0	0	0	56	565	20	4	491	4	ABCC5	3	183655701	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	76226246	183655701	14366729	6	4084											
HIST1H4B	8366	broad.mit.edu	37	6	26027331	26027331	+	Missense_Mutation	SNP	C	C	G	rs369387838		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:26027331C>G	ENST00000377364.3	-	1	149	c.150G>C	c.(148-150)ttG>ttC	p.L50F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	50					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCTCATAAATCAAACCGGAAA	0.562																																						uc003nfr.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(148-150)ttG>ttC		Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.							81	72	75					6																	26027331		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027331C>G	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.150G>C	6.37:g.26027331C>G	ENSP00000366581:p.Leu50Phe		Somatic					p.L50F	NM_003544	NP_778224	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			0	150	-			50					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.150G>C	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038722	0.19669	.	.	ENSG00000124529	ENST00000377364	T	0.67865	-0.29	4.65	-3.15	0.05233	.	0.000000	0.47093	U	0.000255	T	0.46229	0.1382	.	.	.	0.26830	N	0.968603	.	.	.	.	.	.	T	0.56177	-0.8022	7	0.59425	D	0.04	.	8.896	0.35465	0.1961:0.2621:0.5418:0.0	.	.	.	.	F	50	ENSP00000366581:L50F	ENSP00000366581:L50F	L	-	3	2	HIST1H4B	26135310	0.955000	0.32602	0.105000	0.21289	0.000000	0.00434	-0.020000	0.12525	-0.864000	0.04078	-1.104000	0.02111	TTG		0.562	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		25	46	0	0	0	1	0	25	46					G	26027331	C	G	26027331	3	3	229	1	0	0	0	0	1	0	0	0	7166	825	29	4	165	4	HIST1H4B	6	26027331	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		26027331	145087736	7	4085											
AIM1	202	broad.mit.edu	37	6	106992724	106992724	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr6:106992724G>T	ENST00000369066.3	+	11	4491	c.4004G>T	c.(4003-4005)aGt>aTt	p.S1335I	AIM1_ENST00000535438.1_Missense_Mutation_p.S154I|AIM1_ENST00000487681.1_3'UTR	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)		AAAGGTTCCAGTATTGATGTA	0.333																																						uc003prh.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.(4003-4005)aGt>aTt		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							121	123	122					6																	106992724		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992724G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4004G>T	6.37:g.106992724G>T	ENSP00000358062:p.Ser1335Ile		Somatic				AIM1_uc003pri.3_Missense_Mutation_p.S139I	p.S1335I	NM_001624	NP_001615	WXS	Illumina GAIIx	Phase_I	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)	10	4916	+	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)	1335			Beta/gamma crystallin 'Greek key' 7.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4004G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171999	0.57584	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.77620	-1.11;-1.11;-1.11	5.72	4.74	0.60224	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.479492	0.28296	N	0.015864	T	0.73442	0.3587	M	0.66297	2.02	0.30547	N	0.765859	P;B	0.37636	0.603;0.033	P;B	0.49597	0.616;0.044	T	0.72297	-0.4335	10	0.59425	D	0.04	.	7.0063	0.24838	0.2421:0.0:0.7579:0.0	.	154;1335	B4DU04;Q9Y4K1	.;AIM1_HUMAN	I	1335;154;154	ENSP00000358062:S1335I;ENSP00000391419:S154I;ENSP00000439183:S154I	ENSP00000358062:S1335I	S	+	2	0	AIM1	107099417	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.525000	0.35953	2.703000	0.92315	0.561000	0.74099	AGT		0.333	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			23	97	0	0	0	1	0	23	97					T	106992724	G	T	106992724	3	4	229	1	0	0	0	0	1	0	0	0	430	1029	36	4	4046	4	AIM1	6	106992724	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08	80965393	106992724	64122343	8	4086											
MUC17	140453	broad.mit.edu	37	7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	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)					TACCAGCATGCCAACCTCAAC	0.478																																						uc003uxp.1																			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.(9463-9465)Cca>Tca		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							296	301	299					7																	100684160		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684160C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9463C>T	7.37:g.100684160C>T	ENSP00000302716:p.Pro3155Ser		Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.P3155S	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	9516	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3155			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9463C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.356	-0.347730	0.05208	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	0.905	-1.81	0.07882	.	.	.	.	.	T	0.05227	0.0139	N	0.11560	0.145	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.11275	-1.0594	9	0.05721	T	0.95	.	0.2536	0.00209	0.2082:0.1993:0.2083:0.3842	.	3155	Q685J3	MUC17_HUMAN	S	3155	ENSP00000302716:P3155S	ENSP00000302716:P3155S	P	+	1	0	MUC17	100470880	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.691000	0.00198	-1.762000	0.01308	0.121000	0.15741	CCA		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	382	0	0	0	1	0	6	382					T	100684160	C	T	100684160	3	4	229	1	0	0	0	0	1	0	0	0	9974	739	26	2	9473	2	MUC17	7	100684160	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		100684160	58454503	9	4087											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	55	0	0	0	1	0	34	55					T	140453136	A	T	140453136	3	4	229	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CU-01A-11D-A13W-08	39768976	140453136	18685527	10	4088											
TSPAN14	81619	broad.mit.edu	37	10	82267030	82267030	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr10:82267030A>G	ENST00000429989.3	+	4	402	c.179A>G	c.(178-180)gAc>gGc	p.D60G	TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	60					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CATGGAATCGACCCTGTGGTG	0.592																																						uc001kcj.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(178-180)gAc>gGc		Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA.							140	120	127					10																	82267030		2203	4300	6503	SO:0001583	missense	81619					integral to membrane		g.chr10:82267030A>G	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"Tetraspanins"	23303	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 14"	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.179A>G	10.37:g.82267030A>G	ENSP00000396270:p.Asp60Gly		Somatic				TSPAN14_uc009xss.3_Intron|TSPAN14_uc001kci.4_Missense_Mutation_p.D43G	p.D60G	NM_030927	NP_112189	WXS	Illumina GAIIx	Phase_I	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		3	286	+			60					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	c.179A>G	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599488	0.87055	.	.	ENSG00000108219	ENST00000429989;ENST00000372160;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T	0.78816	-1.21;2.91;-1.21;-1.21;-1.21;-1.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.986;0.99	T	0.83271	-0.0043	10	0.28530	T	0.3	-34.6248	12.6842	0.56938	1.0:0.0:0.0:0.0	.	60;43	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	G	60;60;30;43;60;60;60	ENSP00000396270:D60G;ENSP00000361230:D30G;ENSP00000361237:D43G;ENSP00000361231:D60G;ENSP00000344076:D60G;ENSP00000361229:D60G	ENSP00000344076:D60G	D	+	2	0	TSPAN14	82257010	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.144000	0.94629	1.939000	0.56221	0.454000	0.30748	GAC		0.592	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		3	40	0	0	0	1	0	3	40					G	82267030	A	G	82267030	3	3	229	1	0	0	0	0	1	0	0	0	16635	275	10	3	189	3	TSPAN14	10	82267030	Missense_Mutation	SNP	A	TCGA-EM-A1CU-01A-11D-A13W-08		82267030	53267717	11	4089											
IFT46	56912	broad.mit.edu	37	11	118422948	118422948	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:118422948C>T	ENST00000264021.3	-	8	1004	c.586G>A	c.(586-588)Gcg>Acg	p.A196T	IFT46_ENST00000530872.1_Missense_Mutation_p.A247T|IFT46_ENST00000264020.2_Missense_Mutation_p.A247T	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	196					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TGCACAGTCGCAGGGGGCTTA	0.443																																						uc001pto.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(739-741)Gcg>Acg		Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.							212	184	193					11																	118422948		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118422948C>T	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.586G>A	11.37:g.118422948C>T	ENSP00000264021:p.Ala196Thr		Somatic				IFT46_uc001ptp.2_Missense_Mutation_p.A196T	p.A247T	NM_020153	NP_064538	WXS	Illumina GAIIx	Phase_I	Q9NQC8	IFT46_HUMAN			8	1158	-			196					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.739G>A	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716135	0.89205	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939	T;T;T;T	0.53423	0.85;0.84;0.85;0.62	5.64	5.64	0.86602	.	0.052249	0.85682	D	0.000000	T	0.66963	0.2843	M	0.70275	2.135	0.80722	D	1	D;P;P	0.61697	0.99;0.476;0.48	P;B;B	0.60173	0.87;0.223;0.28	T	0.68228	-0.5464	10	0.59425	D	0.04	0.0092	19.683	0.95971	0.0:1.0:0.0:0.0	.	247;196;247	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	T	196;247;247;196	ENSP00000264021:A196T;ENSP00000264020:A247T;ENSP00000432384:A247T;ENSP00000435826:A196T	ENSP00000264020:A247T	A	-	1	0	IFT46	117928158	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.654000	0.74387	2.653000	0.90120	0.561000	0.74099	GCG		0.443	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		5	154	0	0	0	1	0	5	154					T	118422948	C	T	118422948	3	4	229	1	0	0	0	0	1	0	0	0	7560	710	25	2	348	2	IFT46	11	118422948	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08		118422948	16583568	12	4090											
HSPA8	3312	broad.mit.edu	37	11	122931873	122931873	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr11:122931873C>T	ENST00000532636.1	-	2	279	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	HSPA8_ENST00000534624.1_Missense_Mutation_p.A54T|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	54					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTTTGCGGCATCACCGATC	0.438																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.3																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(160-162)Gcc>Acc		Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.							86	72	77					11																	122931873		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931873C>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"Heat shock proteins / HSP70"	5241	protein-coding gene	gene with protein product		600816	"heat shock 70kD protein 8"	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.160G>A	11.37:g.122931873C>T	ENSP00000437125:p.Ala54Thr		Somatic				HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.A54T|HSPA8_uc010rzu.2_Missense_Mutation_p.A54T|HSPA8_uc009zbd.2_Missense_Mutation_p.A54T|HSPA8_uc010rzv.1_Missense_Mutation_p.A54T	p.A54T	NM_006597	NP_006588	WXS	Illumina GAIIx	Phase_I	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	295	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	54					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.160G>A	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157373	0.78114	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04194	5.37;5.37;5.37;5.37;5.37;5.37;3.68;5.37;5.37;5.37;5.37;5.37;5.37	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	M	0.92833	3.35	0.80722	D	1	P;P;B;B;P	0.47762	0.745;0.9;0.416;0.362;0.9	P;P;B;B;P	0.49140	0.527;0.601;0.139;0.085;0.601	T	0.29336	-1.0015	10	0.87932	D	0	-16.5281	17.4081	0.87479	0.0:1.0:0.0:0.0	.	54;54;54;54;54	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	T	54	ENSP00000437125:A54T;ENSP00000437189:A54T;ENSP00000432083:A54T;ENSP00000404372:A54T;ENSP00000227378:A54T;ENSP00000433584:A54T;ENSP00000436762:A54T;ENSP00000435154:A54T;ENSP00000431641:A54T;ENSP00000436183:A54T;ENSP00000434415:A54T;ENSP00000434565:A54T;ENSP00000434851:A54T	ENSP00000227378:A54T	A	-	1	0	HSPA8	122437083	1.000000	0.71417	0.982000	0.44146	0.234000	0.25298	7.816000	0.86201	2.151000	0.67156	0.484000	0.47621	GCC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			9	64	0	0	0	1	0	9	64					T	122931873	C	T	122931873	3	4	229	1	0	0	0	0	1	0	0	0	7416	710	25	2	1812	2	HSPA8	11	122931873	Missense_Mutation	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	4508925	122931873	12074643	13	4091											
NCKAP1L	3071	broad.mit.edu	37	12	54936440	54936440	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:54936440G>A	ENST00000293373.6	+	31	3434	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K|RP11-1049A21.2_ENST00000547942.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1119					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCCTATCGGGAGGTGTCTCG	0.542																																						uc001sgc.4																			0		p.R1118L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(3355-3357)Gag>Aag		Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.							170	144	153					12																	54936440		2203	4300	6503	SO:0001583	missense	3071				B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	g.chr12:54936440G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3355G>A	12.37:g.54936440G>A	ENSP00000293373:p.Glu1119Lys		Somatic				NCKAP1L_uc010sox.2_Missense_Mutation_p.E661K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E1069K	p.E1119K	NM_005337	NP_005328	WXS	Illumina GAIIx	Phase_I	P55160	NCKPL_HUMAN			30	3434	+			1119					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.3355G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514957	0.85389	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32272	1.46;1.46	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.47716	1.5	0.52501	D	0.999954	D	0.69078	0.997	D	0.79108	0.992	T	0.10222	-1.0639	10	0.09338	T	0.73	-20.6294	16.6815	0.85292	0.0:0.0:1.0:0.0	.	1119	P55160	NCKPL_HUMAN	K	1119;1069	ENSP00000293373:E1119K;ENSP00000445596:E1069K	ENSP00000293373:E1119K	E	+	1	0	NCKAP1L	53222707	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.742000	0.85008	2.802000	0.96397	0.655000	0.94253	GAG		0.542	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		7	113	0	0	0	1	0	7	113					A	54936440	G	A	54936440	3	1	229	1	0	0	0	0	1	0	0	0	10222	1175	41	2	3477	2	NCKAP1L	12	54936440	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		54936440	78915455	14	4092											
OAS3	4940	broad.mit.edu	37	12	113388602	113388602	+	Silent	SNP	C	C	T			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr12:113388602C>T	ENST00000228928.7	+	7	1658	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	493	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGCCCCGCCGCGCAGAGATCC	0.582																																						uc001tug.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1477-1479)cgC>cgT		Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.							78	86	84					12																	113388602		1943	4120	6063	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity	g.chr12:113388602C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1479C>T	12.37:g.113388602C>T			Somatic					p.R493R	NM_006187	NP_006178	WXS	Illumina GAIIx	Phase_I	Q9Y6K5	OAS3_HUMAN			6	1566	+			493			OAS domain 2.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.1479C>T	CCDS44981.1																																																																																				0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			23	95	0	0	0	1	0	23	95					T	113388602	C	T	113388602	2	4	229	1	0	0	0	0	0	0	0	1	10801	755	27	1		1	OAS3	12	113388602	Silent	SNP	C	TCGA-EM-A1CU-01A-11D-A13W-08	58452162	113388602	20463293	15	4093											
MUC16	94025	broad.mit.edu	37	19	9082462	9082462	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr19:9082462G>A	ENST00000397910.4	-	1	9556	c.9353C>T	c.(9352-9354)tCt>tTt	p.S3118F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3119	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						TGGGGTCTCAGATGGTGTGAA	0.483																																						uc002mkp.3																			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.(9352-9354)tCt>tTt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							280	293	289					19																	9082462		1977	4163	6140	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082462G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9353C>T	19.37:g.9082462G>A	ENSP00000381008:p.Ser3118Phe		Somatic					p.S3118F	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	9557	-			3119			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9353C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.919362	0.00498	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.541	-0.987	0.10249	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.21821	0.061	B	0.14578	0.011	T	0.48115	-0.9063	7	0.87932	D	0	.	.	.	.	.	3118	B5ME49	.	F	3118	ENSP00000381008:S3118F	ENSP00000381008:S3118F	S	-	2	0	MUC16	8943462	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.290000	0.18975	-2.028000	0.00931	-2.281000	0.00270	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	258	0	0	0	1	0	5	258					A	9082462	G	A	9082462	3	1	229	1	0	0	0	0	1	0	0	0	9973	942	33	2	34506	2	MUC16	19	9082462	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		9082462	50046521	16	4094											
SIK1	150094	broad.mit.edu	37	21	44836663	44836663	+	Silent	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chr21:44836663G>A	ENST00000270162.6	-	14	2443	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	771					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CAGGGCATCAGGTCCTCCATC	0.657																																						uc002zdf.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(2311-2313)Ctg>Ttg		Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.							33	34	34					21																	44836663		2201	4299	6500	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44836663G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2311C>T	21.37:g.44836663G>A			Somatic					p.L771L	NM_173354	NP_775490	WXS	Illumina GAIIx	Phase_I	P57059	SIK1_HUMAN			13	2438	-			771					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.2311C>T	CCDS33575.1																																																																																				0.657	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		9	26	0	0	0	1	0	9	26					A	44836663	G	A	44836663	2	1	229	1	0	0	0	0	0	0	0	1	14317	991	35	2		2	SIK1	21	44836663	Silent	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		44836663	3293232	17	4095											
MAGED1	9500	broad.mit.edu	37	X	51644751	51644751	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CU-01A-11D-A13W-08	TCGA-EM-A1CU-10A-02D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af6e9bc-7128-4786-9192-2d369de54ae3	7ba8bd1d-42f1-4dd3-952c-0caebd89dc43	g.chrX:51644751G>A	ENST00000375722.1	+	12	2314	c.2062G>A	c.(2062-2064)Gct>Act	p.A688T	MAGED1_ENST00000375695.2_Missense_Mutation_p.A744T|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	688					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)					CGAAGCCCGGGCTGAAGCAAG	0.577										Multiple Myeloma(10;0.10)																												uc004dpn.3																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(2230-2232)Gct>Act		Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.							64	57	59					X																	51644751		2203	4300	6503	SO:0001583	missense	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:51644751G>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2062G>A	X.37:g.51644751G>A	ENSP00000364874:p.Ala688Thr	Multiple Myeloma(10;0.10)	Somatic				MAGED1_uc004dpm.3_Missense_Mutation_p.A688T|MAGED1_uc004dpo.3_Missense_Mutation_p.A688T	p.A744T	NM_001005333	NP_001005333	WXS	Illumina GAIIx	Phase_I	Q9Y5V3	MAGD1_HUMAN			12	2420	+	Ovarian(276;0.236)		688					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.2230G>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805372	0.50315	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04654	3.61;3.61;3.61;3.58	4.09	4.09	0.47781	.	0.000000	0.43579	D	0.000543	T	0.11495	0.0280	L	0.34521	1.04	0.34623	D	0.718777	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.977	T	0.07908	-1.0748	10	0.62326	D	0.03	.	10.6836	0.45830	0.0:0.0:1.0:0.0	.	744;688	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	688;688;688;744	ENSP00000364927:A688T;ENSP00000364874:A688T;ENSP00000325333:A688T;ENSP00000364847:A744T	ENSP00000325333:A688T	A	+	1	0	MAGED1	51661491	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.578000	0.53892	2.284000	0.76573	0.513000	0.50165	GCT		0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		17	5	0	0	0	1	0	17	5					A	51644751	G	A	51644751	3	1	229	1	0	0	0	0	1	0	0	0	9183	1203	42	2	2276	2	MAGED1	23	51644751	Missense_Mutation	SNP	G	TCGA-EM-A1CU-01A-11D-A13W-08		51644751	103625809	18	4096											
SP140	11262	broad.mit.edu	37	2	231113619	231113619	+	Silent	SNP	T	T	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr2:231113619T>A	ENST00000392045.3	+	9	1026	c.912T>A	c.(910-912)acT>acA	p.T304T	SP140_ENST00000420434.3_Silent_p.T304T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000486687.2_Silent_p.T228T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	304					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATCTAAAAACTCCCCAAGTCA	0.423																																						uc002vql.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(910-912)acT>acA		Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.							122	108	112					2																	231113619		1824	4078	5902	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231113619T>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.912T>A	2.37:g.231113619T>A			Somatic				SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.T304T|SP140_uc002vqn.3_Silent_p.T251T|SP140_uc002vqm.3_Silent_p.T278T|SP140_uc010fxl.3_Silent_p.T304T	p.T304T	NM_007237	NP_009168	WXS	Illumina GAIIx	Phase_I	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	8	1027	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	304					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.912T>A	CCDS42831.1																																																																																				0.423	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		24	27	0	0	0	1	0	24	27					A	231113619	T	A	231113619	2	1	230	1	0	0	0	0	0	0	0	1	14962	1538	54	5		5	SP140	2	231113619	Silent	SNP	T	TCGA-EM-A1CV-01A-11D-A13W-08		231113619	12085754	1	4097											
EXOC2	55770	broad.mit.edu	37	6	637797	637797	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr6:637797G>A	ENST00000230449.4	-	2	157	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	8	IPT/TIG.				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)		p.Q6fs*28(1)		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)		GTCACAAGGGGGGGTTGTCGT	0.473																																						uc003mtd.3																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	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.(22-24)Ccc>Tcc		Homo sapiens exocyst complex component 2 (EXOC2), mRNA.							119	118	119					6																	637797		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:637797G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.22C>T	6.37:g.637797G>A	ENSP00000230449:p.Pro8Ser		Somatic				EXOC2_uc003mte.3_Missense_Mutation_p.P8S|EXOC2_uc011dho.2_Intron	p.P8S	NM_018303	NP_060773	WXS	Illumina GAIIx	Phase_I	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	1	156	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	8			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.22C>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975654	0.74360	.	.	ENSG00000112685	ENST00000230449;ENST00000443083	D;D	0.84442	-1.85;-1.85	5.29	5.29	0.74685	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-23.5931	19.2731	0.94018	0.0:0.0:1.0:0.0	.	8	Q96KP1	EXOC2_HUMAN	S	8	ENSP00000230449:P8S;ENSP00000406400:P8S	ENSP00000230449:P8S	P	-	1	0	EXOC2	582797	1.000000	0.71417	0.981000	0.43875	0.281000	0.26958	9.081000	0.94049	2.624000	0.88883	0.563000	0.77884	CCC		0.473	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		49	51	0	0	0	1	0	49	51					A	637797	G	A	637797	3	1	230	1	0	0	0	0	1	0	0	0	5302	1232	43	2	2860	2	EXOC2	6	637797	Missense_Mutation	SNP	G	TCGA-EM-A1CV-01A-11D-A13W-08		637797	170477270	2	4098											
SVOPL	136306	broad.mit.edu	37	7	138305790	138305790	+	Splice_Site	DEL	C	C	-			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:138305790delC	ENST00000419765.3	-	13	1387		c.e13+1		SVOPL_ENST00000421622.1_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Splice_Site|SVOPL_ENST00000288513.5_Splice_Site	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTTGGCTGTACCTGGGATATA	0.567																																						uc011kqh.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.e13+1		Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.							57	50	52					7																	138305790		2203	4300	6503	SO:0001630	splice_region_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305790delC	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1353+1G>-	7.37:g.138305790delC			Somatic				SVOPL_uc003vue.3_Splice_Site_p.Q299_splice	p.Q451_splice	NM_001139456	NP_001132928	WXS	Illumina GAIIx	Phase_I	Q8N434	SVOPL_HUMAN			13	1353	-			451						Splice_Site	DEL	ENST00000419765.3	37	c.1353_splice	CCDS47721.1																																																																																				0.567	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959	Intron	8	15						8	15	---	---	---	---	-	138305790	C	-	138305790	8	5	230	1	0	1	0	1	0	0	1	0	15421	521	18	0	136	0	SVOPL	7	138305790	Splice_Site	DEL	C	TCGA-EM-A1CV-01A-11D-A13W-08		138305790	20832873	3	4099											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	37	0	0	0	1	0	19	37					T	140453136	A	T	140453136	3	4	230	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08	2147346	140453136	18685527	4	4100											
CTNNAL1	8727	broad.mit.edu	37	9	111706098	111706098	+	Splice_Site	SNP	T	T	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr9:111706098T>A	ENST00000325551.4	-	17	2028		c.e17-2		FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374595.4_Splice_Site|CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000374594.1_Splice_Site	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCTTTCAGCTGAAATGTAAT	0.358																																						uc004bdo.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.e17-1		Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.							119	118	118					9																	111706098		2203	4300	6503	SO:0001630	splice_region_variant	8727				Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111706098T>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1942-2A>T	9.37:g.111706098T>A			Somatic				CTNNAL1_uc010mts.1_Splice_Site_p.L300_splice|CTNNAL1_uc004bdp.1_Splice_Site_p.L648_splice	p.L648_splice	NM_003798	NP_003789	WXS	Illumina GAIIx	Phase_I	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	17	1984	-			648					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Splice_Site	SNP	ENST00000325551.4	37	c.1942_splice	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019898	0.75275	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6804	0.62481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNAL1	110745919	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.792000	0.69052	2.326000	0.78906	0.533000	0.62120	.		0.358	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	Intron	14	47	0	0	0	1	0	14	47					A	111706098	T	A	111706098	5	1	230	1	0	0	0	0	0	0	1	0	4015	1594	55	5	276	5	CTNNAL1	9	111706098	Splice_Site	SNP	T	TCGA-EM-A1CV-01A-11D-A13W-08		111706098	29507333	5	4101											
PTCHD3	374308	broad.mit.edu	37	10	27687711	27687711	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:27687711C>A	ENST00000438700.3	-	4	1933	c.1816G>T	c.(1816-1818)Gtc>Ttc	p.V606F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	606					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATATAAAGACTACAAAATAC	0.378																																						uc001itu.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1816-1818)Gtc>Ttc		Homo sapiens patched domain containing 3 (PTCHD3), mRNA.							65	65	65					10																	27687711		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27687711C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1816G>T	10.37:g.27687711C>A	ENSP00000417658:p.Val606Phe		Somatic					p.V606F	NM_001034842	NP_001030014	WXS	Illumina GAIIx	Phase_I	Q3KNS1	PTHD3_HUMAN			3	1934	-			606					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1816G>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	2.635	-0.285376	0.05605	.	.	ENSG00000182077	ENST00000438700	D	0.85339	-1.97	4.19	4.19	0.49359	.	0.487586	0.20899	N	0.083661	D	0.84120	0.5402	L	0.39397	1.21	0.09310	N	1	B	0.21071	0.051	B	0.37091	0.241	T	0.79037	-0.1967	10	0.72032	D	0.01	-23.7507	16.3031	0.82832	0.0:1.0:0.0:0.0	.	606	Q3KNS1	PTHD3_HUMAN	F	606	ENSP00000417658:V606F	ENSP00000417658:V606F	V	-	1	0	PTCHD3	27727717	0.720000	0.27996	0.069000	0.20011	0.054000	0.15201	1.114000	0.31196	2.173000	0.68751	0.484000	0.47621	GTC		0.378	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		19	38	0	0	0	1	0	19	38					A	27687711	C	A	27687711	3	1	230	1	0	0	0	0	1	0	0	0	12734	565	20	4	491	4	PTCHD3	10	27687711	Missense_Mutation	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08		27687711	107847036	6	4102											
SUFU	51684	broad.mit.edu	37	10	104353455	104353455	+	Silent	SNP	G	G	A			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr10:104353455G>A	ENST00000369902.3	+	5	826	c.660G>A	c.(658-660)ctG>ctA	p.L220L	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L|SUFU_ENST00000423559.2_Silent_p.L220L|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	220					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		AGGGCATCCTGGAGCTGCTGC	0.612			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.2			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(658-660)ctG>ctA		Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.							86	75	79					10																	104353455		2203	4300	6503	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353455G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.660G>A	10.37:g.104353455G>A			Somatic				SUFU_uc001kvw.2_Silent_p.L220L|SUFU_uc001kvx.3_Silent_p.L220L|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	p.L220L	NM_016169	NP_057253	WXS	Illumina GAIIx	Phase_I	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	4	851	+		Colorectal(252;0.207)	220					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.660G>A	CCDS7537.1																																																																																				0.612	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		3	28	0	0	0	1	0	3	28					A	104353455	G	A	104353455	2	1	230	1	0	0	0	0	0	0	0	1	15367	1335	47	2		2	SUFU	10	104353455	Silent	SNP	G	TCGA-EM-A1CV-01A-11D-A13W-08	76665744	104353455	31181292	7	4103											
CACNA1G	8913	broad.mit.edu	37	17	48655862	48655862	+	Silent	SNP	C	C	T			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr17:48655862C>T	ENST00000359106.5	+	9	2238	c.2238C>T	c.(2236-2238)ggC>ggT	p.G746G	CACNA1G_ENST00000442258.2_Silent_p.G746G|CACNA1G_ENST00000510115.1_Silent_p.G746G|CACNA1G_ENST00000502264.1_Silent_p.G746G|CACNA1G_ENST00000507896.1_Silent_p.G746G|CACNA1G_ENST00000416767.4_Silent_p.G746G|CACNA1G_ENST00000514717.1_Silent_p.G746G|CACNA1G_ENST00000515411.1_Silent_p.G746G|CACNA1G_ENST00000503485.1_Silent_p.G746G|CACNA1G_ENST00000515765.1_Silent_p.G746G|CACNA1G_ENST00000513964.1_Silent_p.G746G|CACNA1G_ENST00000360761.4_Silent_p.G746G|CACNA1G_ENST00000352832.5_Silent_p.G746G|CACNA1G_ENST00000358244.5_Silent_p.G746G|CACNA1G_ENST00000515165.1_Silent_p.G746G|CACNA1G_ENST00000510366.1_Silent_p.G746G|CACNA1G_ENST00000507510.2_Silent_p.G746G|CACNA1G_ENST00000514181.1_Silent_p.G746G|CACNA1G_ENST00000514079.1_Silent_p.G746G|CACNA1G_ENST00000512389.1_Silent_p.G746G|CACNA1G_ENST00000354983.4_Silent_p.G746G|CACNA1G_ENST00000507609.1_Silent_p.G746G|CACNA1G_ENST00000513689.2_Silent_p.G746G|CACNA1G_ENST00000429973.2_Silent_p.G746G|CACNA1G_ENST00000507336.1_Silent_p.G746G|CACNA1G_ENST00000505165.1_Silent_p.G746G	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	746					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTACTTTGGCCGGGGAATCA	0.582																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(2236-2238)ggC>ggT		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						75	78	77					17																	48655862		2046	4214	6260	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655862C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2238C>T	17.37:g.48655862C>T			Somatic				CACNA1G_uc002iri.1_Silent_p.G746G|CACNA1G_uc002irj.1_Silent_p.G746G|CACNA1G_uc002irl.1_Silent_p.G746G|CACNA1G_uc002irm.1_Silent_p.G746G|CACNA1G_uc002irn.1_Silent_p.G746G|CACNA1G_uc002iro.1_Silent_p.G746G|CACNA1G_uc002irp.1_Silent_p.G746G|CACNA1G_uc002irq.1_Silent_p.G746G|CACNA1G_uc002irr.1_Silent_p.G746G|CACNA1G_uc002irs.1_Silent_p.G746G|CACNA1G_uc002irt.1_Silent_p.G746G|CACNA1G_uc002iru.1_Silent_p.G746G|CACNA1G_uc002irv.1_Silent_p.G746G|CACNA1G_uc002irw.1_Silent_p.G746G|CACNA1G_uc002irx.1_Silent_p.G659G|CACNA1G_uc002iry.1_Silent_p.G659G|CACNA1G_uc002isg.1_Silent_p.G659G|CACNA1G_uc002ish.1_Silent_p.G659G|CACNA1G_uc002isi.1_Silent_p.G659G|CACNA1G_uc002irz.1_Silent_p.G659G|CACNA1G_uc002isa.1_Silent_p.G659G|CACNA1G_uc002isd.1_Silent_p.G659G|CACNA1G_uc002isb.1_Silent_p.G659G|CACNA1G_uc002isc.1_Silent_p.G659G|CACNA1G_uc002ise.1_Silent_p.G659G|CACNA1G_uc002isf.1_Silent_p.G659G	p.G746G	NM_018896	NP_061496	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	2610	+	Breast(11;6.7e-17)		746					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.2238C>T	CCDS45730.1																																																																																				0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		3	45	0	0	0	1	0	3	45					T	48655862	C	T	48655862	2	4	230	1	0	0	0	0	0	0	0	1	2544	726	26	2		2	CACNA1G	17	48655862	Silent	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08		48655862	32539348	8	4104											
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000338835.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512																																						uc002qib.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(718-720)aCg>aTg		Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.							129	121	124					19																	55423572		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity	g.chr19:55423572C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.719C>T	19.37:g.55423572C>T	ENSP00000291890:p.Thr240Met		Somatic				NCR1_uc002qic.2_Missense_Mutation_p.T239M|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Missense_Mutation_p.T145M|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Missense_Mutation_p.T133M	p.T240M	NM_004829	NP_004820	WXS	Illumina GAIIx	Phase_I	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	5	757	+			240					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.719C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG		0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			34	46	0	0	0	1	0	34	46					T	55423572	C	T	55423572	3	4	230	1	0	0	0	0	1	0	0	0	10237	536	19	1	741	1	NCR1	19	55423572	Missense_Mutation	SNP	C	TCGA-EM-A1CV-01A-11D-A13W-08		55423572	3705411	9	4105											
USP9X	8239	broad.mit.edu	37	X	41073950	41073950	+	Silent	SNP	A	A	G			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:41073950A>G	ENST00000324545.8	+	34	5952	c.5319A>G	c.(5317-5319)aaA>aaG	p.K1773K	USP9X_ENST00000378308.2_Silent_p.K1773K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1773	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTGTGAAAAATGCAATAAAA	0.323																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5317-5319)aaA>aaG		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							81	81	81					X																	41073950		2168	4280	6448	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41073950A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5319A>G	X.37:g.41073950A>G			Somatic				USP9X_uc004dfc.3_Silent_p.K1773K	p.K1773K	NM_001039590	NP_001034679	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			33	5952	+			1773					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.5319A>G	CCDS43930.1																																																																																				0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		19	68	0	0	0	1	0	19	68					G	41073950	A	G	41073950	2	3	230	1	0	0	0	0	0	0	0	1	17087	98	4	3		3	USP9X	23	41073950	Silent	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08		41073950	114196610	10	4106											
GPR112	139378	broad.mit.edu	37	X	135430491	135430491	+	Silent	SNP	A	A	C			TCGA-EM-A1CV-01A-11D-A13W-08	TCGA-EM-A1CV-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0ccf372-5e5d-4f3a-8673-280ce712d84f	2d6382de-9762-4d76-9d4b-7c5ac5575ef9	g.chrX:135430491A>C	ENST00000394143.1	+	6	4917	c.4626A>C	c.(4624-4626)acA>acC	p.T1542T	GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000370652.1_Silent_p.T1542T|GPR112_ENST00000287534.4_Silent_p.T1479T|GPR112_ENST00000394141.1_Silent_p.T1337T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1542					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)					CTTCTAAAACAATGCATCCAG	0.413																																						uc004ezu.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.(4624-4626)acA>acC		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							105	101	102					X																	135430491		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430491A>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4626A>C	X.37:g.135430491A>C			Somatic				GPR112_uc010nsb.1_Silent_p.T1337T|GPR112_uc010nsc.1_Silent_p.T1309T	p.T1542T	NM_153834	NP_722576	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			5	4917	+	Acute lymphoblastic leukemia(192;0.000127)		1542					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.4626A>C	CCDS35409.1																																																																																				0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	122	0	0	0	1	0	5	122					C	135430491	A	C	135430491	2	2	230	1	0	0	0	0	0	0	0	1	6629	117	5	5		5	GPR112	23	135430491	Silent	SNP	A	TCGA-EM-A1CV-01A-11D-A13W-08	94356541	135430491	19840069	11	4107											
MTMR11	10903	broad.mit.edu	37	1	149902758	149902758	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:149902758C>A	ENST00000439741.2	-	14	1640	c.1390G>T	c.(1390-1392)Gac>Tac	p.D464Y	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	464	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTGACACTGTCATGAAGAGCA	0.502																																						uc001etl.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1390-1392)Gac>Tac		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.							43	47	46					1																	149902758		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149902758C>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1390G>T	1.37:g.149902758C>A	ENSP00000391668:p.Asp464Tyr		Somatic				SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.D392Y|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR	p.D464Y	NM_001145862	NP_001139334	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	1641	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		464			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1390G>T	CCDS53360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.089338|4.089338	0.76756|0.76756	.|.	.|.	ENSG00000014914|ENSG00000014914	ENST00000369140;ENST00000439741|ENST00000361405	D;D|T	0.92858|0.41400	-3.12;-3.12|1.0	5.16|5.16	5.16|5.16	0.70880|0.70880	Myotubularin phosphatase domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.09207|0.09207	-1.0685|-1.0685	10|7	0.87932|0.36615	D|T	0|0.2	.|.	17.3809|17.3809	0.87404|0.87404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	392;464|.	A4FU01-4;A4FU01|.	.;MTMRB_HUMAN|.	Y|I	392;464|261	ENSP00000358136:D392Y;ENSP00000391668:D464Y|ENSP00000354941:M261I	ENSP00000358136:D392Y|ENSP00000354941:M261I	D|M	-|-	1|3	0|0	MTMR11|MTMR11	148169382|148169382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.887000|6.887000	0.75616|0.75616	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.502	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		16	36	0	0	0	1	0	16	36					A	149902758	C	A	149902758	3	1	231	1	0	0	0	0	1	0	0	0	9940	826	29	4	794	4	MTMR11	1	149902758	Missense_Mutation	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08		149902758	99347863	1	4108											
OR10Z1	128368	broad.mit.edu	37	1	158576561	158576561	+	Silent	SNP	C	C	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:158576561C>T	ENST00000361284.1	+	1	333	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	111						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTGTACTAACTGCTTCCTTC	0.567																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(331-333)aaC>aaT		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.							130	136	134					1																	158576561		2203	4299	6502	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576561C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.333C>T	1.37:g.158576561C>T			Somatic					p.N111N	NM_001004478	NP_001004478	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			0	333	+	all_hematologic(112;0.0378)		111					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.333C>T	CCDS30901.1																																																																																				0.567	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		6	222	0	0	0	1	0	6	222					T	158576561	C	T	158576561	2	4	231	1	0	0	0	0	0	0	0	1	10923	564	20	2		2	OR10Z1	1	158576561	Silent	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08	8673803	158576561	90674060	2	4109											
OR2M3	127062	broad.mit.edu	37	1	248366655	248366655	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:248366655G>T	ENST00000456743.1	+	1	324	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTATGGCTGGTTGTGCCAC	0.502																																						uc010pzg.2																			0		p.G96V(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(286-288)Ggt>Tgt		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.							286	286	286					1																	248366655		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366655G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.286G>T	1.37:g.248366655G>T	ENSP00000389625:p.Gly96Cys		Somatic					p.G96C	NM_001004689	NP_001004689	WXS	Illumina GAIIx	Phase_I	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	286	+	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)		96					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.286G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040101	0.35989	.	.	ENSG00000228198	ENST00000456743	T	0.10005	2.92	2.44	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.899723	0.08975	U	0.866609	T	0.36303	0.0962	M	0.89658	3.05	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.08493	-1.0719	10	0.87932	D	0	.	8.4808	0.33040	0.1257:0.0:0.8743:0.0	.	96	Q8NG83	OR2M3_HUMAN	C	96	ENSP00000389625:G96C	ENSP00000389625:G96C	G	+	1	0	OR2M3	246433278	0.017000	0.18338	0.003000	0.11579	0.002000	0.02628	1.867000	0.39499	0.344000	0.23847	0.405000	0.27470	GGT		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		129	310	0	0	0	1	0	129	310					T	248366655	G	T	248366655	3	4	231	1	0	0	0	0	1	0	0	0	11011	1348	47	4	288	4	OR2M3	1	248366655	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08	89790094	248366655	883966	3	4110											
GRIA2	2891	broad.mit.edu	37	4	158142278	158142278	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr4:158142278G>C	ENST00000264426.9	+	1	363	c.84G>C	c.(82-84)caG>caC	p.Q28H	GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000449365.1_5'Flank|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q28H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	28					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|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)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAGCATACAGATAGGTAGGT	0.358																																						uc003ipm.4																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(82-84)caG>caC		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						252	229	237					4																	158142278		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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	g.chr4:158142278G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.84G>C	4.37:g.158142278G>C	ENSP00000264426:p.Gln28His		Somatic				GRIA2_uc011cit.2_Intron|GRIA2_uc021xtr.1_Missense_Mutation_p.Q28H|GRIA2_uc003ipl.4_Missense_Mutation_p.Q28H|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_5'Flank	p.Q28H	NM_001083619	NP_001077088	WXS	Illumina GAIIx	Phase_I	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	0	543	+	all_hematologic(180;0.24)	Renal(120;0.0458)	28					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.84G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789921	0.50102	.	.	ENSG00000120251	ENST00000512774;ENST00000509417;ENST00000296526;ENST00000264426	T;T;T	0.21543	2.0;2.0;2.0	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.982;0.989	D;P	0.65874	0.939;0.61	T	0.13791	-1.0496	10	0.66056	D	0.02	.	13.6695	0.62416	0.0741:0.0:0.9259:0.0	.	28;28	P42262;P42262-2	GRIA2_HUMAN;.	H	28	ENSP00000425217:Q28H;ENSP00000296526:Q28H;ENSP00000264426:Q28H	ENSP00000264426:Q28H	Q	+	3	2	GRIA2	158361728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	2.580000	0.87095	0.484000	0.47621	CAG		0.358	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			63	215	0	0	0	1	0	63	215					C	158142278	G	C	158142278	3	2	231	1	0	0	0	0	1	0	0	0	6768	933	33	4	86	4	GRIA2	4	158142278	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		158142278	33011998	4	4111											
ALDOB	229	broad.mit.edu	37	9	104192048	104192048	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:104192048C>T	ENST00000374855.4	-	3	437	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	105					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TTGATTCCCACCACGATCCCC	0.522																																						uc004bbk.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(313-315)Gtg>Atg		Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.							286	255	265					9																	104192048		2203	4300	6503	SO:0001583	missense	229				NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192048C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.313G>A	9.37:g.104192048C>T	ENSP00000363988:p.Val105Met		Somatic					p.V105M	NM_000035	NP_000026	WXS	Illumina GAIIx	Phase_I	P05062	ALDOB_HUMAN			2	395	-		Acute lymphoblastic leukemia(62;0.0559)	105					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.313G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140285	0.77775	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86230	-2.09	5.94	3.99	0.46301	Aldolase-type TIM barrel (1);	0.057728	0.64402	D	0.000002	D	0.93416	0.7900	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	P	0.59546	0.859	D	0.94568	0.7768	10	0.56958	D	0.05	-9.2858	15.5459	0.76101	0.0:0.7394:0.2606:0.0	.	105	P05062	ALDOB_HUMAN	M	105;32;105	ENSP00000363988:V105M	ENSP00000363986:V32M	V	-	1	0	ALDOB	103231869	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.011000	0.57124	1.512000	0.48834	0.650000	0.86243	GTG		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			93	254	0	0	0	1	0	93	254					T	104192048	C	T	104192048	3	4	231	1	0	0	0	0	1	0	0	0	508	507	18	2	809	2	ALDOB	9	104192048	Missense_Mutation	SNP	C	TCGA-EM-A1CW-01A-21D-A13W-08		104192048	37021383	5	4112											
SNAPC4	6621	broad.mit.edu	37	9	139286500	139286500	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:139286500G>T	ENST00000298532.2	-	9	1237	c.869C>A	c.(868-870)cCc>cAc	p.P290H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											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)		GTTGATGCTGGGGTGCTCCGA	0.627																																						uc004chh.3																			0				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.(868-870)cCc>cAc		Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.							119	113	115					9																	139286500		2203	4300	6503	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.chr9:139286500G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.869C>A	9.37:g.139286500G>T	ENSP00000298532:p.Pro290His		Somatic					p.P290H	NM_003086	NP_003077	WXS	Illumina GAIIx	Phase_I	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	8	878	-		Myeloproliferative disorder(178;0.0511)	290			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.869C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804426	0.90623	.	.	ENSG00000165684	ENST00000298532	T	0.31769	1.48	5.69	5.69	0.88448	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81380	-0.0959	10	0.87932	D	0	-34.551	18.8043	0.92030	0.0:0.0:1.0:0.0	.	290	Q5SXM2	SNPC4_HUMAN	H	290	ENSP00000298532:P290H	ENSP00000298532:P290H	P	-	2	0	SNAPC4	138406321	1.000000	0.71417	0.961000	0.40146	0.847000	0.48162	8.656000	0.91102	2.681000	0.91329	0.655000	0.94253	CCC		0.627	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	138	0	0	0	1	0	5	138					T	139286500	G	T	139286500	3	4	231	1	0	0	0	0	1	0	0	0	14837	1232	43	4	3596	4	SNAPC4	9	139286500	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08	35094452	139286500	1926931	6	4113											
PLXDC2	84898	broad.mit.edu	37	10	20506361	20506361	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:20506361G>C	ENST00000377252.4	+	11	1970	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	377					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGTCAAAAGAGAAGATGTG	0.418																																						uc001iqg.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1129-1131)Gag>Cag		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							61	58	59					10																	20506361		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20506361G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"tumor endothelial marker 7-related precursor"	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1129G>C	10.37:g.20506361G>C	ENSP00000366460:p.Glu377Gln		Somatic				PLXDC2_uc001iqh.1_Missense_Mutation_p.E328Q|PLXDC2_uc009xkc.1_Non-coding_Transcript	p.E377Q	NM_032812	NP_116201	WXS	Illumina GAIIx	Phase_I	Q6UX71	PXDC2_HUMAN			10	1766	+			377					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1129G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319730	0.23994	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.76578	-1.03;-1.03	5.55	4.62	0.57501	.	0.091007	0.64402	D	0.000001	T	0.65015	0.2651	L	0.36672	1.1	0.33289	D	0.563271	P;B	0.37864	0.61;0.393	B;B	0.32864	0.154;0.099	T	0.71220	-0.4657	10	0.22109	T	0.4	.	13.1063	0.59249	0.0:0.0:0.8405:0.1595	.	328;377	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	Q	377;328;240;363	ENSP00000366460:E377Q;ENSP00000366450:E328Q	ENSP00000366446:E240Q	E	+	1	0	PLXDC2	20546367	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.686000	0.61700	2.634000	0.89283	0.563000	0.77884	GAG		0.418	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		3	58	0	0	0	1	0	3	58					C	20506361	G	C	20506361	3	2	231	1	0	0	0	0	1	0	0	0	12118	943	33	4	1171	4	PLXDC2	10	20506361	Missense_Mutation	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		20506361	115028386	7	4114											
PARD3	56288	broad.mit.edu	37	10	34985316	34985316	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:34985316A>C	ENST00000374789.3	-	2	477	c.152T>G	c.(151-153)tTg>tGg	p.L51W	PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	51					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)				TCCATGTTCCAAGCGATGCAC	0.413																																						uc010qej.2																			0		p.R50G(1)		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.(151-153)tTg>tGg		Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.							306	259	275					10																	34985316		2203	4300	6503	SO:0001583	missense	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.chr10:34985316A>C	AF252293	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		ENSG00000148498	ENSG00000148498			16051	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"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.152T>G	10.37:g.34985316A>C	ENSP00000363921:p.Leu51Trp		Somatic				PARD3_uc010qep.2_Missense_Mutation_p.L51W|PARD3_uc010qeq.2_Missense_Mutation_p.L51W|PARD3_uc010qek.2_Missense_Mutation_p.L51W|PARD3_uc010qel.2_Missense_Mutation_p.L51W|PARD3_uc010qem.2_Missense_Mutation_p.L51W|PARD3_uc010qen.2_Missense_Mutation_p.L51W|PARD3_uc010qeo.2_Missense_Mutation_p.L51W|PARD3_uc001ixr.2_Missense_Mutation_p.L51W|PARD3_uc001ixq.2_Missense_Mutation_p.L51W|PARD3_uc001ixp.2_Missense_Mutation_p.L51W|PARD3_uc001ixu.2_Missense_Mutation_p.L51W	p.L51W	NM_019619	NP_062565	WXS	Illumina GAIIx	Phase_I	Q8TEW0	PARD3_HUMAN			1	482	-		Breast(68;0.0707)	51					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.152T>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636228	0.87760	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.79476	0.4452	M	0.79123	2.44	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	0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.999;1.0;1.0	T	0.82287	-0.0532	10	0.87932	D	0	.	14.8814	0.70537	1.0:0.0:0.0:0.0	.	51;51;51;51;51;51;51;51;51;51;51	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	W	51	ENSP00000443147:L51W;ENSP00000440857:L51W;ENSP00000363921:L51W;ENSP00000363920:L51W;ENSP00000340591:L51W;ENSP00000363926:L51W;ENSP00000311986:L51W;ENSP00000363922:L51W;ENSP00000363908:L51W;ENSP00000341844:L51W;ENSP00000363905:L51W	ENSP00000341844:L51W	L	-	2	0	PARD3	35025322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	8.775000	0.91772	2.155000	0.67459	0.528000	0.53228	TTG		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		38	239	0	0	0	1	0	38	239					C	34985316	A	C	34985316	3	2	231	1	0	0	0	0	1	0	0	0	11443	131	5	5	4049	5	PARD3	10	34985316	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	14478955	34985316	100549431	8	4115											
SPI1	6688	broad.mit.edu	37	11	47380480	47380480	+	Silent	SNP	G	G	A	rs569009172		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:47380480G>A	ENST00000378538.3	-	4	630	c.408C>T	c.(406-408)ggC>ggT	p.G136G	SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	136					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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 core promoter sequence-specific DNA binding (GO:0000979)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCTGCCGCTCGCCCTCCTCCT	0.706													G|||	1	0.000199681	0	0	5008	,	,		14242	0.001		0	False		,,,				2504	0					uc001nfb.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(409-411)ggC>ggT		Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.							16	16	16					11																	47380480		2194	4291	6485	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47380480G>A	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"hematopoietic transcription factor PU.1", "31 kDa transforming protein"	165170	"spleen focus forming virus (SFFV) proviral integration oncogene"			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.408C>T	11.37:g.47380480G>A			Somatic				SPI1_uc001nfc.1_Silent_p.G136G|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Silent_p.G130G	p.G137G	NM_001080547	NP_001074016	WXS	Illumina GAIIx	Phase_I	P17947	SPI1_HUMAN		Lung(87;0.0967)	3	634	-			136						Silent	SNP	ENST00000378538.3	37	c.411C>T	CCDS7933.2																																																																																				0.706	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		3	1	0	0	0	1	0	3	1					A	47380480	G	A	47380480	2	1	231	1	0	0	0	0	0	0	0	1	15048	1074	38	1		1	SPI1	11	47380480	Silent	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		47380480	87626036	9	4116											
AHNAK	79026	broad.mit.edu	37	11	62287957	62287957	+	Silent	SNP	T	T	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:62287957T>C	ENST00000378024.4	-	5	14206	c.13932A>G	c.(13930-13932)caA>caG	p.Q4644Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4644				Q -> H (in Ref. 4; AAA69898). {ECO:0000305}.	protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTGGGCCTTGAACGTCCA	0.537																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13930-13932)caA>caG		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							180	184	182					11																	62287957		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287957T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13932A>G	11.37:g.62287957T>C			Somatic				AHNAK_uc001ntk.1_Intron	p.Q4644Q	NM_001620	NP_001611	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			4	14232	-		Melanoma(852;0.155)	4644	Q -> H (in Ref. 2; AAA69898).				A1A586	Silent	SNP	ENST00000378024.4	37	c.13932A>G	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	306	0	0	0	1	0	5	306					C	62287957	T	C	62287957	2	2	231	1	0	0	0	0	0	0	0	1	414	1606	56	3		3	AHNAK	11	62287957	Silent	SNP	T	TCGA-EM-A1CW-01A-21D-A13W-08	14907477	62287957	72718559	10	4117											
ATG16L2	89849	broad.mit.edu	37	11	72537766	72537766	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:72537766A>G	ENST00000321297.5	+	13	1402	c.1264A>G	c.(1264-1266)Aag>Gag	p.K422E	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	422					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTCTGGACACAAGGATAAGGT	0.587																																						uc001otd.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1264-1266)Aag>Gag		Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.							82	90	87					11																	72537766		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72537766A>G	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1264A>G	11.37:g.72537766A>G	ENSP00000326340:p.Lys422Glu		Somatic				ATG16L2_uc001ote.3_Missense_Mutation_p.K316E|ATG16L2_uc009ytj.2_Intron	p.K422E	NM_033388	NP_203746	WXS	Illumina GAIIx	Phase_I	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		12	1304	+			422					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1264A>G	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.11|15.11	2.736787|2.736787	0.49045|0.49045	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367|ENST00000535830;ENST00000540222	T;T;T|.	0.56941|.	0.43;0.43;0.43|.	5.63|5.63	4.49|4.49	0.54785|0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.779066|.	0.12102|.	N|.	0.499430|.	T|T	0.43188|0.43188	0.1236|0.1236	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	B;B|.	0.22211|.	0.066;0.02|.	B;B|.	0.28465|.	0.05;0.09|.	T|T	0.23404|0.23404	-1.0189|-1.0189	10|5	0.28530|.	T|.	0.3|.	.|.	10.6003|10.6003	0.45362|0.45362	0.8559:0.0:0.0:0.1441|0.8559:0.0:0.0:0.1441	.|.	316;422|.	Q8NAA4-2;Q8NAA4|.	.;A16L2_HUMAN|.	E|R	422;253;253|259;199	ENSP00000326340:K422E;ENSP00000441989:K253E;ENSP00000437412:K253E|.	ENSP00000326340:K422E|.	K|Q	+|+	1|2	0|0	ATG16L2|ATG16L2	72215414|72215414	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.639000|0.639000	0.38242|0.38242	2.335000|2.335000	0.43929|0.43929	1.051000|1.051000	0.40369|0.40369	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		3	136	0	0	0	1	0	3	136					G	72537766	A	G	72537766	3	3	231	1	0	0	0	0	1	0	0	0	1092	131	5	3	1314	3	ATG16L2	11	72537766	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	10249809	72537766	62468750	11	4118											
FNTB	2342	broad.mit.edu	37	14	65453792	65453793	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr14:65453792_65453793insA	ENST00000246166.2	+	1	355_356	c.121_122insA	c.(121-123)gaafs	p.E41fs	FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	41					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGACTCGGTGGAAACAGTCACG	0.653																																						uc001xia.3																			0											c.(121-123)gaafs		Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.																																				SO:0001589	frameshift_variant	100529261				multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding	g.chr14:65453792_65453793insA		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.124dupA	14.37:g.65453795_65453795dupA	ENSP00000246166:p.Glu41fs		Somatic				CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|BC052775_uc001xib.3_5'Flank	p.E41fs	NM_002028	NP_002019	WXS	Illumina GAIIx	Phase_I	B4DL54	B4DL54_HUMAN			0	286_287	+			0					B2RDX6|B4E1A0	Frame_Shift_Ins	INS	ENST00000246166.2	37	c.121_122insA	CCDS9769.1																																																																																				0.653	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		17	32						17	32	---	---	---	---	A	65453793	-	A	65453792	7	5	231	1	0	1	1	0	0	0	0	0	5978	1175	41	0	123	0	FNTB	14	65453792	Frame_Shift_Ins	INS	-	TCGA-EM-A1CW-01A-21D-A13W-08		65453792	41895748	12	4119											
NF1	4763	broad.mit.edu	37	17	29508804	29508804	+	Splice_Site	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr17:29508804G>T	ENST00000358273.4	+	7	1113		c.e7+1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATATGGCTGGTAAGGATACG	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e7+1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							55	56	56					17																	29508804		2203	4290	6493	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	g.chr17:29508804G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.730+1G>T	17.37:g.29508804G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_uc002hge.2_Splice_Site_p.E244_splice|NF1_uc002hgf.2_Splice_Site_p.E244_splice|NF1_uc002hgh.3_Splice_Site_p.E244_splice|NF1_uc010csn.2_Splice_Site_p.E104_splice	p.E244_splice	NM_001042492	NP_001035957	WXS	Illumina GAIIx	Phase_I	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1113	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	244					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.730_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786887	0.90367	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532930	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.858000	0.92256	2.793000	0.96121	0.655000	0.94253	.		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	19	67	0	0	0	1	0	19	67					T	29508804	G	T	29508804	5	4	231	1	0	0	0	0	0	0	1	0	10356	1275	44	4	757	4	NF1	17	29508804	Splice_Site	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		29508804	51686406	13	4120											
ZNF556	80032	broad.mit.edu	37	19	2877358	2877358	+	Silent	SNP	T	T	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:2877358T>C	ENST00000307635.2	+	4	489	c.402T>C	c.(400-402)cgT>cgC	p.R134R	ZNF556_ENST00000586426.1_Silent_p.R133R	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	134					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(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ATTGTAATCGTCATCTGCGCA	0.418																																						uc002lwp.1																			0		p.R134H(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(400-402)cgT>cgC		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.							128	110	116					19																	2877358		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877358T>C	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"Zinc fingers, C2H2-type", "-"	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.402T>C	19.37:g.2877358T>C			Somatic				ZNF556_uc002lwq.3_Silent_p.R133R	p.R134R	NM_024967	NP_079243	WXS	Illumina GAIIx	Phase_I	Q9HAH1	ZN556_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)	3	489	+			134					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.402T>C	CCDS12097.1																																																																																				0.418	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	106	0	0	0	1	0	4	106					C	2877358	T	C	2877358	2	2	231	1	0	0	0	0	0	0	0	1	17984	1654	58	3		3	ZNF556	19	2877358	Silent	SNP	T	TCGA-EM-A1CW-01A-21D-A13W-08		2877358	56251625	14	4121											
ZNF211	10520	broad.mit.edu	37	19	58152577	58152577	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:58152577A>G	ENST00000347302.3	+	3	902	c.723A>G	c.(721-723)atA>atG	p.I241M	ZNF211_ENST00000544273.1_Missense_Mutation_p.I253M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	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)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGCCACATAGACACACTTG	0.448																																						uc002qpr.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(913-915)atA>atG		Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.							92	93	93					19																	58152577		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152577A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.723A>G	19.37:g.58152577A>G	ENSP00000339562:p.Ile241Met		Somatic				ZNF211_uc010yhb.1_Missense_Mutation_p.I245M|ZNF211_uc002qpp.2_Missense_Mutation_p.I254M|ZNF211_uc002qpq.2_Missense_Mutation_p.I241M|ZNF211_uc002qpt.2_Missense_Mutation_p.I253M|ZNF211_uc010yhc.1_Missense_Mutation_p.I253M|ZNF211_uc010yhe.1_Missense_Mutation_p.I232M|ZNF211_uc010yhd.1_Missense_Mutation_p.I180M	p.I305M	NM_006385	NP_006376	WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1218	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	241					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.915A>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.92|12.92	2.083064|2.083064	0.36758|0.36758	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43|.	3.65|3.65	-6.8|-6.8	0.01709|0.01709	.|.	.|.	.|.	.|.	.|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.33512|.	0.004;0.002;0.415;0.032;0.001;0.001|.	B;B;B;B;B;B|.	0.34301|.	0.004;0.002;0.179;0.004;0.002;0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	9|5	0.46703|.	T|.	0.11|.	.|.	2.4299|2.4299	0.04469|0.04469	0.2485:0.3431:0.2951:0.1133|0.2485:0.3431:0.2951:0.1133	.|.	245;253;306;232;241;254|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	M|G	245;241;232;180;232;306;253;254|245	ENSP00000399193:I245M;ENSP00000339562:I241M;ENSP00000254182:I232M;ENSP00000375584:I180M;ENSP00000442601:I232M;ENSP00000299871:I306M;ENSP00000441386:I253M;ENSP00000240731:I254M|.	ENSP00000240731:I254M|.	I|R	+|+	3|1	3|2	ZNF211|ZNF211	62844389|62844389	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.419000|0.419000	0.31324|0.31324	0.014000|0.014000	0.13333|0.13333	-1.595000|-1.595000	0.01613|0.01613	0.482000|0.482000	0.46254|0.46254	ATA|AGA		0.448	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	163	0	0	0	1	0	3	163					G	58152577	A	G	58152577	3	3	231	1	0	0	0	0	1	0	0	0	17764	410	15	3	776	3	ZNF211	19	58152577	Missense_Mutation	SNP	A	TCGA-EM-A1CW-01A-21D-A13W-08	55275219	58152577	976406	15	4122											
RASSF2	9770	broad.mit.edu	37	20	4768882	4768882	+	Silent	SNP	G	G	A	rs559942126		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr20:4768882G>A	ENST00000379400.3	-	9	867	c.672C>T	c.(670-672)taC>taT	p.Y224Y	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	224	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TATGGACCACGTACAAGGCAA	0.383													G|||	1	0.000199681	0	0	5008	,	,		20725	0		0	False		,,,				2504	0.001				Melanoma(158;1891 3343 50738)	uc002wld.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(670-672)taC>taT		Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.							128	127	128					20																	4768882		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4768882G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.672C>T	20.37:g.4768882G>A			Somatic				RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.Y224Y	p.Y224Y	NM_170774	NP_739580	WXS	Illumina GAIIx	Phase_I	P50749	RASF2_HUMAN			7	726	-			224			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.672C>T	CCDS13083.1																																																																																				0.383	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		4	132	0	0	0	1	0	4	132					A	4768882	G	A	4768882	2	1	231	1	0	0	0	0	0	0	0	1	13086	1140	40	1		1	RASSF2	20	4768882	Silent	SNP	G	TCGA-EM-A1CW-01A-21D-A13W-08		4768882	58256638	16	4123											
SPRED2	200734	broad.mit.edu	37	2	65540763	65540763	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:65540763G>A	ENST00000356388.4	-	6	1318	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	SPRED2_ENST00000443619.2_Missense_Mutation_p.R374W	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	377	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GCCATCCACCGGAGGCAAAAC	0.577																																						uc002sdr.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(1129-1131)Cgg>Tgg		Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.							80	81	81					2																	65540763		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65540763G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1129C>T	2.37:g.65540763G>A	ENSP00000348753:p.Arg377Trp		Somatic				SPRED2_uc010fcw.3_Missense_Mutation_p.R374W	p.R377W	NM_181784	NP_861449	WXS	Illumina GAIIx	Phase_I	Q7Z698	SPRE2_HUMAN			5	1664	-			377			SPR.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.1129C>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078954	0.94050	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315	T;T;T	0.75367	-0.93;-0.93;-0.93	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92338	0.5879	10	0.87932	D	0	-9.5809	19.6373	0.95740	0.0:0.0:1.0:0.0	.	374;377	E9PEP0;Q7Z698	.;SPRE2_HUMAN	W	377;374;392	ENSP00000348753:R377W;ENSP00000393697:R374W;ENSP00000390595:R392W	ENSP00000348753:R377W	R	-	1	2	SPRED2	65394267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.005000	0.88553	2.636000	0.89361	0.655000	0.94253	CGG		0.577	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			3	34	0	0	0	1	0	3	34					A	65540763	G	A	65540763	3	1	232	1	0	0	0	0	1	0	0	0	15092	1115	39	1	131	1	SPRED2	2	65540763	Missense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		65540763	177658610	1	4124											
RGPD5	727851	broad.mit.edu	37	2	113174792	113174792	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr2:113174792C>T	ENST00000302558.3	-	6	951	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	RGPD8_ENST00000330575.5_Missense_Mutation_p.E254K|RGPD8_ENST00000409750.1_Intron	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	254					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCTCTATTTTCCTGCACATCT	0.388																																						uc002ths.2																			0				central_nervous_system(1)	1						c.(760-762)Gaa>Aaa		Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.							19	26	25					2																	113174792		100	607	707	SO:0001583	missense	84220				intracellular transport	cytoplasm	binding	g.chr2:113174792C>T	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.760G>A	2.37:g.113174792C>T	ENSP00000306637:p.Glu254Lys		Somatic				RGPD5_uc010fkk.2_Intron|RGPD5_uc002tht.1_Intron|RGPD5_uc010yxm.2_Missense_Mutation_p.E254K	p.E254K	NM_005054	NP_001157935	WXS	Illumina GAIIx	Phase_I	Q99666	RGPD5_HUMAN			5	952	-			254					Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.760G>A	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480363	0.26598	.	.	ENSG00000169629	ENST00000302558;ENST00000330575	T;T	0.29655	1.56;1.56	2.48	2.48	0.30137	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.20941	0.0504	L	0.35723	1.085	0.28413	N	0.918086	B;B	0.30727	0.292;0.008	B;B	0.28991	0.097;0.002	T	0.13098	-1.0522	9	0.37606	T	0.19	-19.7503	5.2907	0.15725	0.0:0.8312:0.0:0.1688	.	254;254	F8W705;O14715	.;RGPD8_HUMAN	K	254	ENSP00000306637:E254K;ENSP00000327486:E254K	ENSP00000306637:E254K	E	-	1	0	RGPD8	112891263	0.997000	0.39634	0.795000	0.32087	0.400000	0.30750	2.399000	0.44495	1.388000	0.46506	0.398000	0.26397	GAA		0.388	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		56	102	0	0	0	1	0	56	102					T	113174792	C	T	113174792	3	4	232	1	0	0	0	0	1	0	0	0	13289	864	30	2	15623	2	RGPD5	2	113174792	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08	47634029	113174792	130024581	2	4125											
ALPK1	80216	broad.mit.edu	37	4	113362205	113362205	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr4:113362205A>G	ENST00000458497.1	+	15	3950	c.3671A>G	c.(3670-3672)gAa>gGa	p.E1224G	ALPK1_ENST00000504176.2_Missense_Mutation_p.E1146G|ALPK1_ENST00000177648.9_Missense_Mutation_p.E1224G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1224	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGCATGTGGAATGTAATGAA	0.383																																						uc003ian.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3670-3672)gAa>gGa		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							182	184	183					4																	113362205		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113362205A>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3671A>G	4.37:g.113362205A>G	ENSP00000398048:p.Glu1224Gly		Somatic				ALPK1_uc003iap.4_Missense_Mutation_p.E1224G|ALPK1_uc011cfx.2_Missense_Mutation_p.E1146G|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.E1052G	p.E1224G	NM_001102406	NP_079420	WXS	Illumina GAIIx	Phase_I	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	14	3898	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1224			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3671A>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920889	0.52653	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.15256	2.44;2.44;2.44	5.83	1.92	0.25849	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.686003	0.14605	N	0.309400	T	0.28400	0.0702	M	0.78637	2.42	0.09310	N	1	P;P;P	0.44946	0.673;0.846;0.72	B;P;B	0.48982	0.225;0.597;0.334	T	0.10200	-1.0640	10	0.87932	D	0	-0.2364	7.7197	0.28725	0.6668:0.264:0.0692:0.0	.	1146;1146;1224	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	G	1224;1224;1146	ENSP00000398048:E1224G;ENSP00000177648:E1224G;ENSP00000426044:E1146G	ENSP00000177648:E1224G	E	+	2	0	ALPK1	113581654	0.648000	0.27313	0.008000	0.14137	0.954000	0.61252	3.515000	0.53429	0.107000	0.17824	0.528000	0.53228	GAA		0.383	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		56	121	0	0	0	1	0	56	121					G	113362205	A	G	113362205	3	3	232	1	0	0	0	0	1	0	0	0	544	246	9	3	3721	3	ALPK1	4	113362205	Missense_Mutation	SNP	A	TCGA-EM-A1YA-01A-11D-A14W-08		113362205	77792071	3	4126											
ENPP1	5167	broad.mit.edu	37	6	132171195	132171195	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr6:132171195G>A	ENST00000360971.2	+	3	399	c.379G>A	c.(379-381)Gtt>Att	p.V127I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	127	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGCTGCCTGTGTTGAGCTTGG	0.413																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(379-381)Gtt>Att		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	Amifostine(DB01143)|Ribavirin(DB00811)						164	150	155					6																	132171195		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171195G>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.379G>A	6.37:g.132171195G>A	ENSP00000354238:p.Val127Ile		Somatic					p.V127I	NM_006208	NP_006199	WXS	Illumina GAIIx	Phase_I	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	2	399	+	Breast(56;0.0505)		127			SMB 1.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.379G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811795	0.70797	.	.	ENSG00000197594	ENST00000360971	T	0.46451	0.87	5.53	5.53	0.82687	Somatomedin B domain (4);Somatomedin B, chordata (1);	0.080923	0.49305	D	0.000158	T	0.44808	0.1311	M	0.73962	2.25	0.44261	D	0.997119	P	0.41188	0.741	P	0.45712	0.491	T	0.41088	-0.9528	10	0.45353	T	0.12	-13.6905	18.5932	0.91222	0.0:0.0:1.0:0.0	.	127	P22413	ENPP1_HUMAN	I	127	ENSP00000354238:V127I	ENSP00000354238:V127I	V	+	1	0	ENPP1	132212888	0.986000	0.35501	0.158000	0.22627	0.537000	0.34900	6.338000	0.72963	2.759000	0.94783	0.650000	0.86243	GTT		0.413	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			9	89	0	0	0	1	0	9	89					A	132171195	G	A	132171195	3	1	232	1	0	0	0	0	1	0	0	0	5129	1377	48	2	389	2	ENPP1	6	132171195	Missense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		132171195	38943872	4	4127											
SLC10A5	347051	broad.mit.edu	37	8	82606560	82606560	+	Silent	SNP	T	T	A			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr8:82606560T>A	ENST00000518568.1	-	1	1849	c.648A>T	c.(646-648)ccA>ccT	p.P216P		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	216						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CACCCCCTCCTGGGCACGTGC	0.468																																						uc011lfs.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(646-648)ccA>ccT		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.							96	102	100					8																	82606560		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606560T>A		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.648A>T	8.37:g.82606560T>A			Somatic					p.P216P	NM_001010893	NP_001010893	WXS	Illumina GAIIx	Phase_I	Q5PT55	NTCP5_HUMAN			0	648	-			216					B2RN26	Silent	SNP	ENST00000518568.1	37	c.648A>T	CCDS34915.1																																																																																				0.468	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		42	73	0	0	0	1	0	42	73					A	82606560	T	A	82606560	2	1	232	1	0	0	0	0	0	0	0	1	14377	1567	55	5		5	SLC10A5	8	82606560	Silent	SNP	T	TCGA-EM-A1YA-01A-11D-A14W-08		82606560	63757462	5	4128											
IARS	3376	broad.mit.edu	37	9	95050407	95050407	+	Splice_Site	SNP	C	C	G			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr9:95050407C>G	ENST00000375643.3	-	3	543		c.e3+1		IARS_ENST00000447699.2_Intron|IARS_ENST00000375629.3_Splice_Site|IARS_ENST00000443024.2_Splice_Site	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTCAAACATACCACAGGTAAG	0.348																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.e3+1		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)						94	84	88					9																	95050407		2203	4300	6503	SO:0001630	splice_region_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050407C>G	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.276+1G>C	9.37:g.95050407C>G			Somatic				IARS_uc004ars.1_Splice_Site|IARS_uc004aru.3_Splice_Site_p.V92_splice|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	p.V92_splice	NM_013417	NP_038203	WXS	Illumina GAIIx	Phase_I	P41252	SYIC_HUMAN			3	533	-			92					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Splice_Site	SNP	ENST00000375643.3	37	c.276_splice	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898136	0.91962	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000375660;ENST00000395554	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IARS	94090228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.039000	0.70972	2.894000	0.99253	0.655000	0.94253	.		0.348	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	Intron	3	54	0	0	0	1	0	3	54					G	95050407	C	G	95050407	5	3	232	1	0	0	0	0	0	0	1	0	7473	521	18	4	3639	4	IARS	9	95050407	Splice_Site	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		95050407	46163024	6	4129											
IGSF22	283284	broad.mit.edu	37	11	18731052	18731052	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr11:18731052G>C	ENST00000513874.1	-	18	3019	c.2880C>G	c.(2878-2880)taC>taG	p.Y960*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	859										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTCCCACTGTGTAGCAGGTGC	0.567																																						uc009yht.2																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2878-2880)taC>taG		Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.							108	113	111					11																	18731052		1965	4146	6111	SO:0001587	stop_gained	283284							g.chr11:18731052G>C	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2880C>G	11.37:g.18731052G>C	ENSP00000421191:p.Tyr960*		Somatic				IGSF22_uc001mpa.2_Non-coding_Transcript	p.Y960*	NM_173588	NP_775859	WXS	Illumina GAIIx	Phase_I	Q8N9C0	IGS22_HUMAN			17	3070	-			859					A6NNA0|D6RGV7	Nonsense_Mutation	SNP	ENST00000513874.1	37	c.2880C>G	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	41	8.791677	0.98956	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7485	0.69508	0.0:0.0:1.0:0.0	.	.	.	.	X	960	.	ENSP00000322422:Y859X	Y	-	3	2	IGSF22	18687628	1.000000	0.71417	0.953000	0.39169	0.970000	0.65996	2.196000	0.42686	2.243000	0.73865	0.655000	0.94253	TAC		0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		4	102	0	0	0	1	0	4	102					C	18731052	G	C	18731052	4	2	232	1	0	0	0	0	0	1	0	0	7600	1372	48	4	1124	4	IGSF22	11	18731052	Nonsense_Mutation	SNP	G	TCGA-EM-A1YA-01A-11D-A14W-08		18731052	116275464	7	4130											
PKM2	5315	broad.mit.edu	37	15	72495521	72495521	+	Intron	SNP	A	A	G			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr15:72495521A>G	ENST00000335181.5	-	9	1244				PKM_ENST00000319622.6_Silent_p.R383R|PKM_ENST00000568883.1_Silent_p.R218R|PKM_ENST00000449901.2_Intron|PKM_ENST00000565184.1_Silent_p.R383R|PKM_ENST00000389093.3_Silent_p.R383R|PKM_ENST00000565154.1_Silent_p.R383R|PKM_ENST00000568459.1_Silent_p.R383R	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CCTCAGCCTCACGAGCTATCT	0.527																																						uc010uki.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(1369-1371)cgT>cgC		Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 4, mRNA.	Pyruvic acid(DB00119)						74	69	71					15																	72495521		2199	4297	6496	SO:0001627	intron_variant	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72495521A>G	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1141-560T>C	15.37:g.72495521A>G			Somatic				PKM2_uc002atr.1_5'Flank|PKM2_uc010bit.1_Silent_p.R388R|PKM2_uc002atx.2_Silent_p.R383R|PKM2_uc002atw.2_Silent_p.R383R|PKM2_uc002aty.2_Intron|PKM2_uc010ukj.2_Intron|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Silent_p.R418R|PKM2_uc010biu.1_Silent_p.R404R	p.R457R	NM_001206796	NP_001193725	WXS	Illumina GAIIx	Phase_I	P14618	KPYM_HUMAN			9	1770	-			383			Interaction with POU5F1.		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.1371T>C	CCDS32284.1																																																																																				0.527	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			3	42	0	0	0	1	0	3	42					G	72495521	A	G	72495521	1	3	232	0	1	0	0	0	0	0	0	0	11977	146	6	3		3	PKM2	15	72495521	Intron	SNP	A	TCGA-EM-A1YA-01A-11D-A14W-08		72495521	30035871	8	4131											
PSG9	5678	broad.mit.edu	37	19	43766171	43766171	+	Missense_Mutation	SNP	C	C	A	rs373945115		TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr19:43766171C>A	ENST00000270077.3	-	3	646	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.G184C|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000244293.7_Missense_Mutation_p.G184C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	184	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGCTCTGACCATTCATCCAC	0.507																																						uc002owd.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(550-552)Ggt>Tgt		Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.							260	253	255					19																	43766171		2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766171C>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.550G>T	19.37:g.43766171C>A	ENSP00000270077:p.Gly184Cys		Somatic				PSG9_uc002owe.4_Missense_Mutation_p.G184C|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.G184C	p.G184C	NM_002784	NP_002775	WXS	Illumina GAIIx	Phase_I	Q00887	PSG9_HUMAN			2	649	-		Prostate(69;0.00682)	184			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.550G>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	11.58	1.680407	0.29872	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.17213	2.29;2.29	2.12	-1.95	0.07548	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41971	0.1182	M	0.90252	3.1	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.19516	-1.0303	9	0.87932	D	0	.	6.1841	0.20488	0.0:0.7109:0.0:0.2891	.	184;184;184	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	C	184;145;184	ENSP00000270077:G184C;ENSP00000244293:G184C	ENSP00000244293:G184C	G	-	1	0	PSG9	48458011	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	-1.033000	0.03571	-0.364000	0.08088	0.194000	0.17425	GGT		0.507	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		109	165	0	0	0	1	0	109	165					A	43766171	C	A	43766171	3	1	232	1	0	0	0	0	1	0	0	0	12662	594	21	4	746	4	PSG9	19	43766171	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		43766171	15362812	9	4132											
TMPRSS15	5651	broad.mit.edu	37	21	19666639	19666639	+	Missense_Mutation	SNP	C	C	T	rs372571410		TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chr21:19666639C>T	ENST00000284885.3	-	21	2467	c.2434G>A	c.(2434-2436)Gca>Aca	p.A812T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	812	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGAGAGATGCGCCGCAGAGC	0.567																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2434-2436)Gca>Aca		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.		C	THR/ALA	0,4406		0,0,2203	75	77	76		2434	5.8	0.8	21		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS15	NM_002772.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	812/1020	19666639	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666639C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2434G>A	21.37:g.19666639C>T	ENSP00000284885:p.Ala812Thr		Somatic					p.A812T	NM_002772	NP_002763	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			20	2465	-			812			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2434G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266516	0.80358	0.0	1.16E-4	ENSG00000154646	ENST00000284885	D	0.94232	-3.38	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.83692	2.655	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96638	0.9472	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	812	P98073	ENTK_HUMAN	T	812	ENSP00000284885:A812T	.	A	-	1	0	TMPRSS15	18588510	1.000000	0.71417	0.847000	0.33407	0.213000	0.24496	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA		0.567	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		5	64	0	0	0	1	0	5	64					T	19666639	C	T	19666639	3	4	232	1	0	0	0	0	1	0	0	0	16243	768	27	1	645	1	TMPRSS15	21	19666639	Missense_Mutation	SNP	C	TCGA-EM-A1YA-01A-11D-A14W-08		19666639	28463256	10	4133											
EIF1AX	1964	broad.mit.edu	37	X	20148725	20148726	+	Splice_Site	DNP	GC	GC	AA			TCGA-EM-A1YA-01A-11D-A14W-08	TCGA-EM-A1YA-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e872b54-1efb-4071-ac86-1f53a45dd752	365c3166-e324-47d9-af32-52121df03116	g.chrX:20148725_20148726GC>AA	ENST00000379607.5	-	6	541	c.338_338GC>TT	c.(337-339)gGCc>gTTcc	p.G113V	EIF1AX_ENST00000379593.1_Splice_Site_p.G85V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	113					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						ATTGATTTTAGCTAAGGACACA	0.312																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6-1		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.																																				SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148725_20148726GC>AA	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.338_338delinsAA	X.37:g.20148725_20148726delinsAA			Somatic					p.A113_splice	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			6	546	-			113					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	DNP	ENST00000379607.5	37	c.338_splice	CCDS14196.1																																																																																				0.312	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Missense_Mutation	22	41	0	0	0	1	0	22	41					AA	20148726	GC	AA	20148725	5	1	232	1	0	0	0	0	0	0	1	0	4992	985	34	2	104	2	EIF1AX	23	20148725	Splice_Site	DNP	GC	TCGA-EM-A1YA-01A-11D-A14W-08		20148725	135121835	11	4134											
CASZ1	54897	broad.mit.edu	37	1	10720553	10720553	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:10720553C>T	ENST00000377022.3	-	6	863	c.546G>A	c.(544-546)atG>atA	p.M182I	CASZ1_ENST00000344008.5_Missense_Mutation_p.M182I|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	182					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGAACTCGGTCATGGTGGAGG	0.652																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(544-546)atG>atA		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.							31	32	32					1																	10720553		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720553C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.546G>A	1.37:g.10720553C>T	ENSP00000366221:p.Met182Ile		Somatic				CASZ1_uc001arp.1_Missense_Mutation_p.M182I|CASZ1_uc009vmx.2_Missense_Mutation_p.M206I|CASZ1_uc001arq.1_Missense_Mutation_p.M41I	p.M182I	NM_001079843	NP_001073312	WXS	Illumina GAIIx	Phase_I	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	5	866	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	182					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.546G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020816	0.75275	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.22	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	L	0.34521	1.04	0.30753	N	0.744911	D;D;D;B	0.63880	0.984;0.993;0.984;0.417	P;P;P;B	0.61874	0.712;0.895;0.786;0.085	T	0.58393	-0.7644	9	0.72032	D	0.01	-23.3279	13.6498	0.62304	0.0:0.8439:0.1561:0.0	.	206;182;182;182	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	I	182	.	ENSP00000339445:M182I	M	-	3	0	CASZ1	10643140	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.629000	0.67798	2.081000	0.62600	0.491000	0.48974	ATG		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	21	0	0	0	1	0	5	21					T	10720553	C	T	10720553	3	4	233	1	0	0	0	0	1	0	0	0	2685	826	29	2	4801	2	CASZ1	1	10720553	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		10720553	238530068	1	4135											
KTI12	112970	broad.mit.edu	37	1	52499429	52499429	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:52499429G>A	ENST00000371614.1	-	1	59	c.5C>T	c.(4-6)cCg>cTg	p.P2L	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	2							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACCACGAGCGGCATCCTCTC	0.657																																						uc001ctj.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(4-6)cCg>cTg		Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.							9	10	9					1																	52499429		2130	4179	6309	SO:0001583	missense	112970						ATP binding	g.chr1:52499429G>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.5C>T	1.37:g.52499429G>A	ENSP00000360676:p.Pro2Leu		Somatic				TXNDC12_uc001cti.3_Intron	p.P2L	NM_138417	NP_612426	WXS	Illumina GAIIx	Phase_I	Q96EK9	KTI12_HUMAN			0	44	-			2						Missense_Mutation	SNP	ENST00000371614.1	37	c.5C>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393383	0.83011	.	.	ENSG00000198841	ENST00000371614	T	0.43688	0.94	5.06	5.06	0.68205	.	0.069384	0.64402	U	0.000020	T	0.70876	0.3274	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.77991	-0.2379	10	0.87932	D	0	.	15.2953	0.73902	0.0:0.0:1.0:0.0	.	2	Q96EK9	KTI12_HUMAN	L	2	ENSP00000360676:P2L	ENSP00000360676:P2L	P	-	2	0	KTI12	52272017	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	5.531000	0.67148	2.627000	0.88993	0.655000	0.94253	CCG		0.657	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		4	11	0	0	0	1	0	4	11					A	52499429	G	A	52499429	3	1	233	1	0	0	0	0	1	0	0	0	8584	1116	39	1	1063	1	KTI12	1	52499429	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	41778876	52499429	196751192	2	4136											
BCAR3	8412	broad.mit.edu	37	1	94054850	94054850	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:94054850C>T	ENST00000370244.1	-	7	901	c.613G>A	c.(613-615)Gtt>Att	p.V205I	RP5-1033H22.2_ENST00000431770.1_RNA|RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370243.1_Missense_Mutation_p.V205I|BCAR3_ENST00000260502.6_Missense_Mutation_p.V205I|RP5-1033H22.2_ENST00000417401.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.V114I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	205	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTCGCAGAACTGTCCGGTTG	0.582																																						uc001dpz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(613-615)Gtt>Att		Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.							50	51	51					1																	94054850		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054850C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.613G>A	1.37:g.94054850C>T	ENSP00000359264:p.Val205Ile		Somatic				BCAR3_uc001dqa.3_Missense_Mutation_p.V205I|BCAR3_uc001dqb.3_Missense_Mutation_p.V205I|BCAR3_uc001dpy.3_Missense_Mutation_p.V114I|LOC100129046_uc009wdn.3_5'Flank	p.V205I	NM_003567	NP_003558	WXS	Illumina GAIIx	Phase_I	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	4	888	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	205			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.613G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	9.406	1.079240	0.20227	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.96	3.05	0.35203	SH2 motif (4);	0.110806	0.64402	D	0.000011	T	0.78597	0.4308	L	0.45051	1.395	0.80722	D	1	B;B	0.20368	0.044;0.04	B;B	0.30782	0.12;0.032	T	0.77749	-0.2471	10	0.51188	T	0.08	1.6997	10.7212	0.46042	0.0:0.7391:0.0:0.2609	.	205;114	O75815;Q5TEW3	BCAR3_HUMAN;.	I	114;205;205;205	ENSP00000359267:V114I;ENSP00000260502:V205I;ENSP00000359264:V205I;ENSP00000359263:V205I	ENSP00000260502:V205I	V	-	1	0	BCAR3	93827438	0.890000	0.30428	0.115000	0.21578	0.299000	0.27559	1.750000	0.38329	1.224000	0.43551	0.561000	0.74099	GTT		0.582	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	22	0	0	0	1	0	4	22					T	94054850	C	T	94054850	3	4	233	1	0	0	0	0	1	0	0	0	1349	565	20	2	1896	2	BCAR3	1	94054850	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	41555421	94054850	155195771	3	4137											
TRIM46	80128	broad.mit.edu	37	1	155149705	155149705	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:155149705G>A	ENST00000334634.4	+	5	848	c.848G>A	c.(847-849)gGa>gAa	p.G283E	TRIM46_ENST00000368383.3_Missense_Mutation_p.G283E|TRIM46_ENST00000545012.1_Missense_Mutation_p.G157E|TRIM46_ENST00000543729.1_Missense_Mutation_p.G290E|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.G260E|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.G283E|TRIM46_ENST00000392451.2_Missense_Mutation_p.G283E	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	283						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACATCCTGGGAAACCAGGAC	0.612																																						uc001fhs.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(847-849)gGa>gAa		Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.							122	115	117					1																	155149705		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155149705G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.848G>A	1.37:g.155149705G>A	ENSP00000334657:p.Gly283Glu		Somatic				TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.G270E|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.G283E|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.G157E|TRIM46_uc001fhu.1_Missense_Mutation_p.G260E|TRIM46_uc009wpg.1_Missense_Mutation_p.G270E|TRIM46_uc001fhw.1_Non-coding_Transcript	p.G283E	NM_025058	NP_079334	WXS	Illumina GAIIx	Phase_I	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	931	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		283					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.848G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347817	0.61183	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.63744	0.95;0.71;-0.06;0.89;0.65;0.42;0.47	5.33	5.33	0.75918	.	0.204070	0.44285	D	0.000476	T	0.29423	0.0733	N	0.19112	0.55	0.36897	D	0.890186	P;P;P;P;P	0.42827	0.782;0.791;0.791;0.67;0.782	B;B;B;B;B	0.41764	0.189;0.366;0.191;0.366;0.324	T	0.28776	-1.0033	10	0.05833	T	0.94	.	14.8761	0.70496	0.0:0.0:1.0:0.0	.	270;283;260;283;283	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	E	290;270;283;157;283;283;260;283	ENSP00000442719:G290E;ENSP00000357369:G283E;ENSP00000440254:G157E;ENSP00000376245:G283E;ENSP00000357367:G283E;ENSP00000357366:G260E;ENSP00000334657:G283E	ENSP00000334657:G283E	G	+	2	0	TRIM46	153416329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.971000	0.63749	2.665000	0.90641	0.655000	0.94253	GGA		0.612	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		35	126	0	0	0	1	0	35	126					A	155149705	G	A	155149705	3	1	233	1	0	0	0	0	1	0	0	0	16518	1174	41	2	866	2	TRIM46	1	155149705	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	61094855	155149705	94100916	4	4138											
ASPM	259266	broad.mit.edu	37	1	197115496	197115496	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr1:197115496C>T	ENST00000367409.4	-	1	328	c.72G>A	c.(70-72)ctG>ctA	p.L24L	ASPM_ENST00000294732.7_Silent_p.L24L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	24					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						cggggccccgcagccccgcgg	0.701																																						uc001gtu.3																			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.(70-72)ctG>ctA		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							11	16	14					1																	197115496		2146	4180	6326	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197115496C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.72G>A	1.37:g.197115496C>T			Somatic				ASPM_uc001gtv.3_Silent_p.L24L|ASPM_uc001gtw.4_5'UTR	p.L24L	NM_018136	NP_060606	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			0	329	-			24					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.72G>A	CCDS1389.1																																																																																				0.701	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	21	0	0	0	1	0	6	21					T	197115496	C	T	197115496	2	4	233	1	0	0	0	0	0	0	0	1	1056	697	25	2		2	ASPM	1	197115496	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	41965791	197115496	52135125	5	4139											
ID2	3398	broad.mit.edu	37	2	8822537	8822537	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr2:8822537C>T	ENST00000234091.4	+	3	1102	c.242C>T	c.(241-243)tCg>tTg	p.S81L	ID2_ENST00000396290.1_Missense_Mutation_p.S81L|AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000331129.3_Missense_Mutation_p.S81L			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	81					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|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)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCTGGACTCGCATCCCACT	0.587																																						uc002qza.3																			0		p.S81S(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(241-243)tCg>tTg		Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA.							69	71	70					2																	8822537		2203	4300	6503	SO:0001583	missense	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822537C>T		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"Basic helix-loop-helix proteins"	5361	protein-coding gene	gene with protein product	"cell growth-inhibiting gene 8"	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.242C>T	2.37:g.8822537C>T	ENSP00000234091:p.Ser81Leu		Somatic					p.S81L	NM_002166	NP_002157	WXS	Illumina GAIIx	Phase_I	Q02363	ID2_HUMAN			0	425	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		81						Missense_Mutation	SNP	ENST00000234091.4	37	c.242C>T	CCDS1659.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541711	0.65198	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	D;D;D	0.98329	-4.87;-4.87;-4.87	5.56	5.56	0.83823	Helix-loop-helix DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	L	0.59436	1.845	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	D	0.94318	0.7551	10	0.62326	D	0.03	-5.0979	19.5147	0.95159	0.0:1.0:0.0:0.0	.	81	Q02363	ID2_HUMAN	L	81	ENSP00000234091:S81L;ENSP00000379585:S81L;ENSP00000385465:S81L	ENSP00000234091:S81L	S	+	2	0	ID2	8739988	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.884000	0.69729	2.610000	0.88304	0.555000	0.69702	TCG		0.587	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		16	41	0	0	0	1	0	16	41					T	8822537	C	T	8822537	3	4	233	1	0	0	0	0	1	0	0	0	7490	893	31	1	244	1	ID2	2	8822537	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		8822537	234376836	6	4140											
CCDC80	151887	broad.mit.edu	37	3	112357200	112357200	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:112357200G>T	ENST00000206423.3	-	2	2506	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.S518Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	518	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCCAGCTGAGAGGCAGTAGG	0.473																																						uc003dzf.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1552-1554)tCt>tAt		Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.							62	65	64					3																	112357200		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357200G>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1553C>A	3.37:g.112357200G>T	ENSP00000206423:p.Ser518Tyr		Somatic				CCDC80_uc011bhv.2_Missense_Mutation_p.S518Y|CCDC80_uc003dzg.3_Missense_Mutation_p.S518Y|CCDC80_uc003dzh.1_Missense_Mutation_p.S518Y	p.S518Y	NM_199512	NP_955806	WXS	Illumina GAIIx	Phase_I	Q76M96	CCD80_HUMAN			1	1771	-			518			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1553C>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097691	0.76870	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	.	0.325516	0.35096	N	0.003447	T	0.58119	0.2100	L	0.27053	0.805	0.39618	D	0.969988	D;D;D	0.67145	0.996;0.989;0.989	D;P;P	0.65874	0.939;0.817;0.781	T	0.61931	-0.6961	10	0.72032	D	0.01	-14.3876	20.0211	0.97503	0.0:0.0:1.0:0.0	.	529;518;518	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	Y	518;518;146	ENSP00000206423:S518Y;ENSP00000411814:S518Y	ENSP00000206423:S518Y	S	-	2	0	CCDC80	113839890	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.467000	0.66737	2.741000	0.93983	0.555000	0.69702	TCT		0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		24	53	0	0	0	1	0	24	53					T	112357200	G	T	112357200	3	4	233	1	0	0	0	0	1	0	0	0	2854	942	33	4	1327	4	CCDC80	3	112357200	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		112357200	85665230	7	4141											
MCM2	4171	broad.mit.edu	37	3	127335823	127335823	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:127335823C>T	ENST00000265056.7	+	10	1879	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	545	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GAGCCATCTTCACCACTGGCC	0.607																																						uc003ejp.3																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1633-1635)ttC>ttT		Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.							76	81	79					3																	127335823		2203	4300	6503	SO:0001819	synonymous_variant	4171				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|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding	g.chr3:127335823C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1635C>T	3.37:g.127335823C>T			Somatic				MCM2_uc011bkm.2_Silent_p.F415F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F498F	p.F545F	NM_004526	NP_004517	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			9	1692	+			545			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1635C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614554	0.28712	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.79	3.03	0.35002	.	.	.	.	.	T	0.62097	0.2400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58934	-0.7548	4	.	.	.	-36.7156	11.7228	0.51691	0.0:0.8055:0.0:0.1945	.	.	.	.	L	477	.	.	S	+	2	0	MCM2	128818513	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.299000	0.51826	0.794000	0.33899	0.650000	0.86243	TCA		0.607	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			46	75	0	0	0	1	0	46	75					T	127335823	C	T	127335823	2	4	233	1	0	0	0	0	0	0	0	1	9386	825	29	2		2	MCM2	3	127335823	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	14978623	127335823	70686607	8	4142											
PLXND1	23129	broad.mit.edu	37	3	129324718	129324718	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr3:129324718G>A	ENST00000324093.4	-	1	943	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PLXND1_ENST00000393239.1_Silent_p.F255F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	255	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						GGTTGAGGTCGAAGGTGAAGA	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																		PLXND1/TMCC1(4)	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.(763-765)ttC>ttT		Homo sapiens plexin D1 (PLXND1), mRNA.							42	39	40					3																	129324718		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324718G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.765C>T	3.37:g.129324718G>A			Somatic					p.F255F	NM_015103	NP_055918	WXS	Illumina GAIIx	Phase_I	Q9Y4D7	PLXD1_HUMAN			0	865	-			255			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.765C>T	CCDS33854.1																																																																																				0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	15	0	0	0	1	0	3	15					A	129324718	G	A	129324718	2	1	233	1	0	0	0	0	0	0	0	1	12127	1049	37	1		1	PLXND1	3	129324718	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	1988895	129324718	68697712	9	4143											
RPL9	6133	broad.mit.edu	37	4	39460022	39460023	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:39460022_39460023GG>AA	ENST00000449470.2	-	1	485_486	c.37_38CC>TT	c.(37-39)CCa>TTa	p.P13L	LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank|LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.P13L|LIAS_ENST00000261434.3_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	13					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						ACCATTTTCTGGAATGTCGACA	0.47																																						uc003gub.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						c.(37-39)cca>TTa		Homo sapiens ribosomal protein L9 (RPL9), transcript variant 2, mRNA.																																				SO:0001583	missense	6133				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome	g.chr4:39460022_39460023GG>AA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.37_38delinsAA	4.37:g.39460022_39460023delinsAA	ENSP00000400467:p.Pro13Leu		Somatic				RPL9_uc003guc.3_Missense_Mutation_p.P13L|RPL9_uc011byk.2_Non-coding_Transcript|RPL9_uc011byl.1_Missense_Mutation_p.P13L|RPL9_uc003gud.1_Missense_Mutation_p.P13L|LIAS_uc003gue.4_5'Flank|LIAS_uc011bym.2_5'Flank|LIAS_uc003guf.3_5'Flank|LIAS_uc003gug.3_5'Flank	p.P13L	NM_001024921	NP_001020092	WXS	Illumina GAIIx	Phase_I	P32969	RL9_HUMAN			0	185_186	-			13						Missense_Mutation	DNP	ENST00000449470.2	37	c.37_38CC>TT	CCDS3452.1																																																																																				0.47	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			11	45	0	0	0	1	0	11	45					AA	39460023	GG	AA	39460022	3	1	233	1	0	0	0	0	1	0	0	0	13603	1348	47	2	564	2	RPL9	4	39460022	Missense_Mutation	DNP	GG	TCGA-EM-A1YB-01A-11D-A14W-08		39460022	151694254	10	4144											
RUFY3	22902	broad.mit.edu	37	4	71634264	71634264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:71634264C>A	ENST00000226328.4	+	5	1145	c.582C>A	c.(580-582)taC>taA	p.Y194*	RUFY3_ENST00000417478.2_Nonsense_Mutation_p.Y254*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Y194*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.Y178*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Y141*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	194	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GTGAATTCTACGAACCCAATG	0.388																																						uc003hfr.3																			0		p.F193C(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(580-582)taC>taA		Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.							149	146	147					4																	71634264		2203	4300	6503	SO:0001587	stop_gained	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71634264C>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.582C>A	4.37:g.71634264C>A	ENSP00000226328:p.Tyr194*		Somatic				RUFY3_uc003hfp.4_Nonsense_Mutation_p.Y254*|RUFY3_uc003hfq.3_Nonsense_Mutation_p.Y194*|RUFY3_uc011cax.2_Nonsense_Mutation_p.Y212*|RUFY3_uc011cay.2_Nonsense_Mutation_p.Y130*	p.Y194*	NM_001037442	NP_001032519	WXS	Illumina GAIIx	Phase_I	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		4	1177	+		all_hematologic(202;0.248)	194			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Nonsense_Mutation	SNP	ENST00000226328.4	37	c.582C>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545550	0.86022	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	.	.	.	5.53	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7693	9.1035	0.36683	0.0:0.1605:0.0:0.8395	.	.	.	.	X	130;254;194;194;178;130;141	.	ENSP00000226328:Y194X	Y	+	3	2	RUFY3	71853128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.642000	0.24735	0.938000	0.37419	-0.350000	0.07774	TAC		0.388	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		4	104	0	0	0	1	0	4	104					A	71634264	C	A	71634264	4	1	233	1	0	0	0	0	0	1	0	0	13740	547	19	4	962	4	RUFY3	4	71634264	Nonsense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	32174242	71634264	119520012	11	4145											
INTU	27152	broad.mit.edu	37	4	128554328	128554328	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:128554328G>A	ENST00000335251.6	+	1	242	c.139G>A	c.(139-141)Gat>Aat	p.D47N	INTU_ENST00000296461.5_Missense_Mutation_p.D47N	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	47					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGCGAGTAGCGATTATGAGTA	0.488																																						uc003ifk.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(139-141)Gat>Aat		Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.							89	88	88					4																	128554328		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128554328G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.139G>A	4.37:g.128554328G>A	ENSP00000334003:p.Asp47Asn		Somatic				INTU_uc011cgq.2_Non-coding_Transcript	p.D47N	NM_015693	NP_056508	WXS	Illumina GAIIx	Phase_I	Q9ULD6	PDZD6_HUMAN			0	242	+			47					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.139G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830399	0.32329	.	.	ENSG00000164066	ENST00000335251;ENST00000296461	T	0.49720	0.77	4.03	2.25	0.28309	.	0.417015	0.24321	N	0.039544	T	0.30070	0.0753	L	0.43152	1.355	0.09310	N	1	P	0.39920	0.695	B	0.30495	0.116	T	0.11348	-1.0591	10	0.30854	T	0.27	-2.4673	6.5913	0.22647	0.0:0.2259:0.5805:0.1936	.	47	Q9ULD6	PDZD6_HUMAN	N	47	ENSP00000296461:D47N	ENSP00000296461:D47N	D	+	1	0	INTU	128773778	0.378000	0.25114	0.005000	0.12908	0.840000	0.47671	1.243000	0.32767	0.618000	0.30179	0.655000	0.94253	GAT		0.488	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		5	65	0	0	0	1	0	5	65					A	128554328	G	A	128554328	3	1	233	1	0	0	0	0	1	0	0	0	7786	1058	37	1	141	1	INTU	4	128554328	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	56920064	128554328	62599948	12	4146											
USP38	84640	broad.mit.edu	37	4	144109022	144109022	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:144109022G>A	ENST00000307017.4	+	2	1232	c.726G>A	c.(724-726)caG>caA	p.Q242Q	USP38_ENST00000510377.1_Silent_p.Q242Q	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	242					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCCTTGTGCAGCATATTCCTC	0.388																																						uc003ijb.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(724-726)caG>caA		Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.							103	95	98					4																	144109022		2203	4300	6503	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144109022G>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.726G>A	4.37:g.144109022G>A			Somatic				USP38_uc003ija.4_Silent_p.Q242Q|USP38_uc003ijc.3_Non-coding_Transcript	p.Q242Q	NM_032557	NP_115946	WXS	Illumina GAIIx	Phase_I	Q8NB14	UBP38_HUMAN			1	1260	+	all_hematologic(180;0.158)		242					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.726G>A	CCDS3758.1																																																																																				0.388	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		3	49	0	0	0	1	0	3	49					A	144109022	G	A	144109022	2	1	233	1	0	0	0	0	0	0	0	1	17066	962	34	2		2	USP38	4	144109022	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	15554694	144109022	47045254	13	4147											
CASP3	836	broad.mit.edu	37	4	185550615	185550615	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr4:185550615G>A	ENST00000308394.4	-	8	907	c.645C>T	c.(643-645)ttC>ttT	p.F215F	CASP3_ENST00000393588.4_Missense_Mutation_p.S175L|CASP3_ENST00000523916.1_Silent_p.F215F|CASP3_ENST00000393585.2_Missense_Mutation_p.S175L|CASP3_ENST00000517513.1_Missense_Mutation_p.S175L	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	215					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	GCGACTGGATGAACCAGGAGC	0.393																																						uc003iwg.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(523-525)tCa>tTa		Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						64	60	62					4																	185550615		2203	4300	6503	SO:0001819	synonymous_variant	836				DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185550615G>A	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"Caspases"	1504	protein-coding gene	gene with protein product		600636	"caspase 3, apoptosis-related cysteine protease"			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.645C>T	4.37:g.185550615G>A			Somatic				CASP3_uc003iwh.3_Silent_p.F215F|CASP3_uc003iwi.3_Silent_p.F215F	p.S175L			WXS	Illumina GAIIx	Phase_I	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	6	898	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	0					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.524C>T	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571486	0.65765	.	.	ENSG00000164305	ENST00000393585;ENST00000517513;ENST00000393588	T;T;T	0.05580	3.42;3.42;3.42	5.69	2.43	0.29744	.	.	.	.	.	T	0.06280	0.0162	.	.	.	0.24896	N	0.992131	B	0.14805	0.011	B	0.20184	0.028	T	0.31420	-0.9944	8	0.87932	D	0	.	8.603	0.33756	0.2021:0.1316:0.6663:0.0	.	175	A8MVM1	.	L	175	ENSP00000377210:S175L;ENSP00000428372:S175L;ENSP00000377213:S175L	ENSP00000377210:S175L	S	-	2	0	CASP3	185787609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.951000	0.40333	0.679000	0.31345	0.650000	0.86243	TCA		0.393	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		15	42	0	0	0	1	0	15	42					A	185550615	G	A	185550615	2	1	233	1	0	0	0	0	0	0	0	1	2672	1281	45	2		2	CASP3	4	185550615	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	41441593	185550615	5603661	14	4148											
CTNND2	1501	broad.mit.edu	37	5	10973762	10973762	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:10973762G>C	ENST00000304623.8	-	22	3670	c.3481C>G	c.(3481-3483)Cag>Gag	p.Q1161E	CTNND2_ENST00000511377.1_Missense_Mutation_p.Q1070E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q824E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q1103E|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q728E|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1161					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGGAATTCTGAAATGGCTGG	0.532																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3481-3483)Cag>Gag		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							124	107	113					5																	10973762		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973762G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3481C>G	5.37:g.10973762G>C	ENSP00000307134:p.Gln1161Glu		Somatic				CTNND2_uc010itt.2_Missense_Mutation_p.Q1070E|CTNND2_uc011cmy.1_Missense_Mutation_p.Q824E|CTNND2_uc011cmz.1_Missense_Mutation_p.Q728E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.Q753E	p.Q1161E	NM_001332	NP_001323	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			21	3626	-			1161					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3481C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043699	0.36085	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.76968	-0.93;-1.01;-0.93;-1.06;-1.05	5.93	5.93	0.95920	.	0.542825	0.18585	N	0.136906	T	0.69628	0.3132	N	0.19112	0.55	0.58432	D	0.999996	B;B;B	0.14805	0.004;0.004;0.011	B;B;B	0.21360	0.006;0.034;0.013	T	0.61292	-0.7092	10	0.37606	T	0.19	-2.7109	20.3368	0.98748	0.0:0.0:1.0:0.0	.	824;753;1161	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	E	1161;1103;1070;256;728;824	ENSP00000307134:Q1161E;ENSP00000352661:Q1103E;ENSP00000426510:Q1070E;ENSP00000391155:Q728E;ENSP00000426887:Q824E	ENSP00000307134:Q1161E	Q	-	1	0	CTNND2	11026762	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	CAG		0.532	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		19	47	0	0	0	1	0	19	47					C	10973762	G	C	10973762	3	2	233	1	0	0	0	0	1	0	0	0	4020	1299	45	4	200	4	CTNND2	5	10973762	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		10973762	169941498	15	4149											
MYO10	4651	broad.mit.edu	37	5	16689986	16689986	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:16689986G>A	ENST00000513610.1	-	28	4297	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I	MYO10_ENST00000274203.9_Silent_p.I638I|MYO10_ENST00000505695.1_Silent_p.I620I|MYO10_ENST00000427430.2_Silent_p.I638I|MYO10_ENST00000515803.1_Silent_p.I620I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1281	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGCCATAATGATGTCGATCC	0.468																																						uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3841-3843)atC>atT		Homo sapiens myosin X (MYO10), mRNA.							186	183	184					5																	16689986		2083	4220	6303	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	g.chr5:16689986G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3843C>T	5.37:g.16689986G>A			Somatic				MYO10_uc011cnc.2_Silent_p.I160I|MYO10_uc011cnd.2_Silent_p.I638I|MYO10_uc011cne.2_Silent_p.I638I|MYO10_uc010itx.3_Silent_p.I904I	p.I1281I	NM_012334	NP_036466	WXS	Illumina GAIIx	Phase_I	Q9HD67	MYO10_HUMAN			27	4311	-			1281			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.3843C>T	CCDS54834.1																																																																																				0.468	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	49	0	0	0	1	0	3	49					A	16689986	G	A	16689986	2	1	233	1	0	0	0	0	0	0	0	1	10062	1280	45	2		2	MYO10	5	16689986	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	5716224	16689986	164225274	16	4150											
IRF1	3659	broad.mit.edu	37	5	131822017	131822017	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:131822017G>A	ENST00000245414.4	-	7	851	c.593C>T	c.(592-594)cCa>cTa	p.P198L	IRF1_ENST00000405885.2_Missense_Mutation_p.P198L|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	198					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		AACTTCCACTGGGATGTGCCA	0.582																																						uc003kxa.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(592-594)cCa>cTa		Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.							89	89	89					5																	131822017		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822017G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.593C>T	5.37:g.131822017G>A	ENSP00000245414:p.Pro198Leu		Somatic				C5orf56_uc010jds.2_Missense_Mutation_p.G60R|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.P198L|IRF1_uc010jdt.2_Missense_Mutation_p.P198L	p.P198L	NM_002198	NP_002189	WXS	Illumina GAIIx	Phase_I	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	6	827	-		all_cancers(142;0.026)|Breast(839;0.198)	198					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.593C>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827610	0.32329	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	D;D	0.81821	-1.54;-1.54	4.99	4.09	0.47781	.	1.143530	0.06063	N	0.658702	T	0.72211	0.3432	.	.	.	0.18873	N	0.999985	B;B	0.28128	0.201;0.181	B;B	0.24541	0.016;0.054	T	0.57700	-0.7766	9	0.30078	T	0.28	-4.4167	12.6501	0.56755	0.0:0.0:0.6897:0.3103	.	198;198	Q5FBX3;P10914	.;IRF1_HUMAN	L	198	ENSP00000245414:P198L;ENSP00000384406:P198L	ENSP00000245414:P198L	P	-	2	0	IRF1	131849916	0.417000	0.25432	0.072000	0.20136	0.712000	0.41017	2.383000	0.44354	1.409000	0.46915	0.655000	0.94253	CCA		0.582	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		4	88	0	0	0	1	0	4	88					A	131822017	G	A	131822017	3	1	233	1	0	0	0	0	1	0	0	0	7827	1348	47	2	400	2	IRF1	5	131822017	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	115132031	131822017	49093243	17	4151											
PCDHB10	56126	broad.mit.edu	37	5	140573408	140573408	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr5:140573408C>T	ENST00000239446.4	+	1	1467	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	428	Cadherin 4. {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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTTGGGGACACCCAGGCTG	0.537																																						uc003lix.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1282-1284)aCa>aTa		Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.							100	96	97					5																	140573408		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573408C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1283C>T	5.37:g.140573408C>T	ENSP00000239446:p.Thr428Ile		Somatic					p.T428I	NM_018930	NP_061753	WXS	Illumina GAIIx	Phase_I	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1457	+			428			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1283C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804544	0.16467	.	.	ENSG00000120324	ENST00000239446	T	0.01821	4.62	3.22	2.34	0.29019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02970	0.0088	L	0.49640	1.575	0.21290	N	0.999736	B	0.17268	0.021	B	0.30029	0.11	T	0.35674	-0.9779	9	0.49607	T	0.09	.	10.4758	0.44663	0.0:0.8999:0.0:0.1001	.	428	Q9UN67	PCDBA_HUMAN	I	428	ENSP00000239446:T428I	ENSP00000239446:T428I	T	+	2	0	PCDHB10	140553592	0.000000	0.05858	0.011000	0.14972	0.562000	0.35680	-0.020000	0.12525	0.702000	0.31825	-0.273000	0.10243	ACA		0.537	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		33	46	0	0	0	1	0	33	46					T	140573408	C	T	140573408	3	4	233	1	0	0	0	0	1	0	0	0	11535	478	17	2	1285	2	PCDHB10	5	140573408	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	8751391	140573408	40341852	18	4152											
HIST1H1E	3008	broad.mit.edu	37	6	26156747	26156747	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:26156747C>T	ENST00000304218.3	+	1	189	c.129C>T	c.(127-129)ctC>ctT	p.L43L	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	43	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						TGTCCGAGCTCATTACTAAAG	0.627																																						uc003ngq.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(127-129)ctC>ctT		Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.							21	27	25					6																	26156747		2202	4299	6501	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156747C>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.129C>T	6.37:g.26156747C>T			Somatic				HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	p.L43L	NM_005321	NP_005312	WXS	Illumina GAIIx	Phase_I	P10412	H14_HUMAN			0	189	+			43			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.129C>T	CCDS4586.1																																																																																				0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		13	38	0	0	0	1	0	13	38					T	26156747	C	T	26156747	2	4	233	1	0	0	0	0	0	0	0	1	7126	813	29	2		2	HIST1H1E	6	26156747	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		26156747	144958320	19	4153											
TRIM10	10107	broad.mit.edu	37	6	30121959	30121959	+	Silent	SNP	G	G	A	rs562843566		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:30121959G>A	ENST00000449742.2	-	7	1308	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	411	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GAGCCGAGACGAAGCCCCAAG	0.672													G|||	1	0.000199681	0	0	5008	,	,		14727	0		0	False		,,,				2504	0.001					uc003npo.3																			0				ovary(1)	1						c.(1231-1233)ttC>ttT		Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.							47	35	39					6																	30121959		1510	2709	4219	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30121959G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1233C>T	6.37:g.30121959G>A			Somatic				TRIM10_uc003npn.2_Intron	p.F411F	NM_006778	NP_006769	WXS	Illumina GAIIx	Phase_I	Q9UDY6	TRI10_HUMAN			6	1309	-			411			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1233C>T	CCDS34375.1																																																																																				0.672	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			11	23	0	0	0	1	0	11	23					A	30121959	G	A	30121959	2	1	233	1	0	0	0	0	0	0	0	1	16483	1049	37	1		1	TRIM10	6	30121959	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	3965212	30121959	140993108	20	4154											
FGD2	221472	broad.mit.edu	37	6	36983609	36983609	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:36983609G>C	ENST00000274963.8	+	9	1266	c.1095G>C	c.(1093-1095)agG>agC	p.R365S		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	365	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCAGGTGAGGACCCGCATCG	0.612																																						uc010jwp.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1093-1095)agG>agC		Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.							68	57	61					6																	36983609		2203	4299	6502	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr6:36983609G>C	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1095G>C	6.37:g.36983609G>C	ENSP00000274963:p.Arg365Ser		Somatic				FGD2_uc003ong.2_Missense_Mutation_p.R87S|FGD2_uc011dtv.1_5'UTR	p.R365S	NM_173558	NP_775829	WXS	Illumina GAIIx	Phase_I	Q7Z6J4	FGD2_HUMAN			8	1266	+			365			PH 1.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1095G>C	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734831	0.69189	.	.	ENSG00000146192	ENST00000274963	D	0.85556	-2.0	4.63	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.48286	D	0.000183	D	0.89736	0.6801	M	0.90814	3.15	0.39706	D	0.97126	D	0.76494	0.999	D	0.72982	0.979	D	0.89827	0.3993	10	0.87932	D	0	1.2561	5.735	0.18061	0.1744:0.2803:0.5453:0.0	.	365	Q7Z6J4	FGD2_HUMAN	S	365	ENSP00000274963:R365S	ENSP00000274963:R365S	R	+	3	2	FGD2	37091587	0.930000	0.31532	1.000000	0.80357	0.995000	0.86356	0.117000	0.15583	1.064000	0.40671	0.491000	0.48974	AGG		0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		2	6	0	0	0	1	0	2	6					C	36983609	G	C	36983609	3	2	233	1	0	0	0	0	1	0	0	0	5833	1165	41	4	1129	4	FGD2	6	36983609	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	6861650	36983609	134131458	21	4155											
TREM1	54210	broad.mit.edu	37	6	41254385	41254385	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:41254385C>T	ENST00000244709.4	-	1	72	c.9G>A	c.(7-9)aaG>aaA	p.K3K	TREM1_ENST00000334475.6_Silent_p.K3K|TREM1_ENST00000591620.1_Silent_p.K3K|TREM1_ENST00000589614.1_Silent_p.K3K	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	3					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGAGCCTGGTCTTCCTCATCC	0.582																																						uc003oqf.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16						c.(7-9)aaG>aaA		Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	Glutathione(DB00143)						92	84	87					6																	41254385		2203	4300	6503	SO:0001819	synonymous_variant	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41254385C>T	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.9G>A	6.37:g.41254385C>T			Somatic				TREM1_uc003oqg.2_Silent_p.K3K|TREM1_uc021yzj.1_Silent_p.K3K	p.K3K	NM_018643	NP_061113	WXS	Illumina GAIIx	Phase_I	Q9NP99	TREM1_HUMAN			0	73	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		3					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Silent	SNP	ENST00000244709.4	37	c.9G>A	CCDS4854.1																																																																																				0.582	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		12	52	0	0	0	1	0	12	52					T	41254385	C	T	41254385	2	4	233	1	0	0	0	0	0	0	0	1	16467	912	32	2		2	TREM1	6	41254385	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	4270776	41254385	129860682	22	4156											
NMBR	4829	broad.mit.edu	37	6	142409595	142409595	+	Silent	SNP	G	G	A	rs368028844		TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr6:142409595G>A	ENST00000258042.1	-	1	341	c.201C>T	c.(199-201)atC>atT	p.I67I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	67					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGGTGATGAAGATCTTCACCA	0.602																																						uc003qiu.3																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(199-201)atC>atT		Homo sapiens neuromedin B receptor (NMBR), mRNA.		G		0,4406		0,0,2203	89	80	83		201	4.7	1.0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NMBR	NM_002511.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		67/391	142409595	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409595G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.201C>T	6.37:g.142409595G>A			Somatic					p.I67I	NM_002511	NP_002502	WXS	Illumina GAIIx	Phase_I	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	0	342	-	Breast(32;0.155)		67					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.201C>T	CCDS5196.1																																																																																				0.602	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			15	24	0	0	0	1	0	15	24					A	142409595	G	A	142409595	2	1	233	1	0	0	0	0	0	0	0	1	10487	932	33	2		2	NMBR	6	142409595	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	101155210	142409595	28705472	23	4157											
SQLE	6713	broad.mit.edu	37	8	126033114	126033114	+	Splice_Site	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr8:126033114G>A	ENST00000265896.5	+	10	2430		c.e10+1		SQLE_ENST00000523430.1_Splice_Site	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase						cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	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)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGCTTTCTGTGTAAGTTGTGA	0.383																																						uc011liq.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.e10+1		Homo sapiens squalene epoxidase (SQLE), mRNA.	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						93	93	93					8																	126033114		1901	4120	6021	SO:0001630	splice_region_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126033114G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1532+1G>A	8.37:g.126033114G>A			Somatic					p.V511_splice	NM_003129	NP_003120	WXS	Illumina GAIIx	Phase_I	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		10	2458	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		511					Q9UEK6	Splice_Site	SNP	ENST00000265896.5	37	c.1532_splice	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904569	0.92035	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SQLE	126102296	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.278000	0.95766	2.941000	0.99782	0.655000	0.94253	.		0.383	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	Intron	6	17	0	0	0	1	0	6	17					A	126033114	G	A	126033114	5	1	233	1	0	0	0	0	0	0	1	0	15127	1391	48	2	1470	2	SQLE	8	126033114	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		126033114	20330908	24	4158											
FREM1	158326	broad.mit.edu	37	9	14824915	14824915	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:14824915C>A	ENST00000380880.3	-	11	2740	c.1957G>T	c.(1957-1959)Gtc>Ttc	p.V653F	FREM1_ENST00000380881.4_Missense_Mutation_p.V654F|FREM1_ENST00000422223.2_Missense_Mutation_p.V653F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	653					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTCCTTGACAACCAAATGC	0.418																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1957-1959)Gtc>Ttc		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							89	83	85					9																	14824915		1834	4083	5917	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824915C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1957G>T	9.37:g.14824915C>A	ENSP00000370262:p.Val653Phe		Somatic				FREM1_uc010mic.3_Non-coding_Transcript	p.V653F	NM_144966	NP_659403	WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2773	-			653					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1957G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120134	0.77323	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.50548	0.74;0.74;0.74	5.92	5.92	0.95590	.	0.161583	0.56097	D	0.000037	T	0.76111	0.3942	M	0.89534	3.04	0.52501	D	0.999956	D	0.71674	0.998	D	0.71414	0.973	T	0.79983	-0.1573	10	0.87932	D	0	-19.4499	20.3206	0.98668	0.0:1.0:0.0:0.0	.	653	Q5H8C1	FREM1_HUMAN	F	654;653;653	ENSP00000370263:V654F;ENSP00000412940:V653F;ENSP00000370262:V653F	ENSP00000370257:V656F	V	-	1	0	FREM1	14814915	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.883000	0.39658	2.809000	0.96659	0.655000	0.94253	GTC		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	35	0	0	0	1	0	8	35					A	14824915	C	A	14824915	3	1	233	1	0	0	0	0	1	0	0	0	6044	478	17	4	4740	4	FREM1	9	14824915	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		14824915	126388516	25	4159											
PPP6C	5537	broad.mit.edu	37	9	127915858	127915858	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:127915858C>G	ENST00000373547.4	-	6	722	c.623G>C	c.(622-624)aGt>aCt	p.S208T	PPP6C_ENST00000373546.3_Missense_Mutation_p.S61T|PPP6C_ENST00000451402.1_Missense_Mutation_p.S245T|PPP6C_ENST00000415905.1_Missense_Mutation_p.S186T	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	208					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TCCTCGGGGACTGATAGCCCA	0.438																																						uc010mwv.3																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(733-735)aGt>aCt		Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.							80	75	77					9																	127915858		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127915858C>G	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.623G>C	9.37:g.127915858C>G	ENSP00000362648:p.Ser208Thr		Somatic				PPP6C_uc004bpg.4_Missense_Mutation_p.S208T|PPP6C_uc010mww.3_Missense_Mutation_p.S186T|PPP6C_uc011lzr.2_Missense_Mutation_p.S61T	p.S245T	NM_001123355	NP_001116827	WXS	Illumina GAIIx	Phase_I	O00743	PPP6_HUMAN			6	955	-			208					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.734G>C	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840940	0.91197	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.88299	0.6399	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.997;0.998	D	0.91413	0.5152	10	0.87932	D	0	-11.1956	18.9632	0.92684	0.0:1.0:0.0:0.0	.	186;245;208	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	T	208;245;186;61	ENSP00000362648:S208T;ENSP00000392147:S245T;ENSP00000411744:S186T;ENSP00000362647:S61T	ENSP00000362647:S61T	S	-	2	0	PPP6C	126955679	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.724000	0.93272	0.585000	0.79938	AGT		0.438	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		14	10	0	0	0	1	0	14	10					G	127915858	C	G	127915858	3	3	233	1	0	0	0	0	1	0	0	0	12407	565	20	4	302	4	PPP6C	9	127915858	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	113090943	127915858	13297573	26	4160											
C9orf116	138162	broad.mit.edu	37	9	138391667	138391667	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr9:138391667C>T	ENST00000429260.2	-	1	51	c.31G>A	c.(31-33)Gag>Aag	p.E11K	C9orf116_ENST00000371791.1_Missense_Mutation_p.E11K|MRPS2_ENST00000241600.5_5'Flank|MRPS2_ENST00000371785.1_5'Flank|C9orf116_ENST00000371789.3_Missense_Mutation_p.E11K	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	11															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCCACAGGCTCCGCGCACGCT	0.697																																						uc004cft.1																			0											c.(31-33)Gag>Aag		Homo sapiens chromosome 9 open reading frame 116 (C9orf116), transcript variant 1, mRNA.							10	11	11					9																	138391667		2172	4281	6453	SO:0001583	missense	138162							g.chr9:138391667C>T	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"p53-induced expression 1 in Rb&#8722;/&#8722; cells"	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.31G>A	9.37:g.138391667C>T	ENSP00000395281:p.Glu11Lys		Somatic				C9orf116_uc004cfs.1_Missense_Mutation_p.E11K|C9orf116_uc004cfu.1_Non-coding_Transcript|MRPS2_uc004cfv.4_5'Flank	p.E11K	NM_001048265	NP_001041730	WXS	Illumina GAIIx	Phase_I	Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	0	95	-			11					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.31G>A	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557303	0.65425	.	.	ENSG00000160345	ENST00000429260;ENST00000371789;ENST00000371791	.	.	.	3.66	2.75	0.32379	.	2.237690	0.01723	N	0.028415	T	0.44414	0.1292	L	0.47716	1.5	0.09310	N	1	B;B	0.20671	0.047;0.017	B;B	0.18561	0.022;0.022	T	0.28427	-1.0044	9	0.52906	T	0.07	-6.483	6.4017	0.21642	0.0:0.7584:0.0:0.2416	.	11;11	Q5BN46;Q5BN46-2	CI116_HUMAN;.	K	11	.	ENSP00000360854:E11K	E	-	1	0	C9orf116	137531488	0.027000	0.19231	0.019000	0.16419	0.056000	0.15407	1.435000	0.34969	0.820000	0.34516	0.462000	0.41574	GAG		0.697	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		4	5	0	0	0	1	0	4	5					T	138391667	C	T	138391667	3	4	233	1	0	0	0	0	1	0	0	0	2450	864	30	2	391	2	C9orf116	9	138391667	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	10475809	138391667	2821764	27	4161											
ZDHHC16	84287	broad.mit.edu	37	10	99213324	99213324	+	Silent	SNP	G	G	C			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:99213324G>C	ENST00000370854.3	+	6	783	c.594G>C	c.(592-594)cgG>cgC	p.R198R	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000393760.1_Silent_p.R198R|ZDHHC16_ENST00000345745.5_Silent_p.R133R|ZDHHC16_ENST00000370842.2_Silent_p.R198R|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000352634.4_Silent_p.R198R	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	198					apoptotic process (GO:0006915)|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)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ATAACCATCGGTACTTCTTCT	0.483																																						uc001knj.3																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(592-594)cgG>cgC		Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA.							289	246	261					10																	99213324		2203	4300	6503	SO:0001819	synonymous_variant	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99213324G>C	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.594G>C	10.37:g.99213324G>C			Somatic				ZDHHC16_uc001knk.3_Silent_p.R198R|ZDHHC16_uc001knl.3_Silent_p.R198R|ZDHHC16_uc001knm.3_Silent_p.R133R|ZDHHC16_uc001knn.3_Intron|ZDHHC16_uc010qow.2_Silent_p.R198R	p.R198R	NM_198046	NP_932163	WXS	Illumina GAIIx	Phase_I	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	6	960	+		Colorectal(252;0.0846)	198					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Silent	SNP	ENST00000370854.3	37	c.594G>C	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	G	7.106	0.575096	0.13623	.	.	ENSG00000171307	ENST00000420089;ENST00000417044	.	.	.	5.95	-1.23	0.09465	.	.	.	.	.	T	0.55800	0.1943	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51988	-0.8635	4	.	.	.	-18.7209	10.2687	0.43470	0.1955:0.3872:0.4172:0.0	.	.	.	.	A	174;140	.	.	G	+	2	0	ZDHHC16	99203314	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	0.892000	0.28322	-0.100000	0.12241	-1.134000	0.01955	GGT		0.483	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		5	168	0	0	0	1	0	5	168					C	99213324	G	C	99213324	2	2	233	1	0	0	0	0	0	0	0	1	17603	1248	44	4		4	ZDHHC16	10	99213324	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		99213324	36321423	28	4162											
VTI1A	143187	broad.mit.edu	37	10	114298090	114298090	+	Splice_Site	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr10:114298090G>A	ENST00000393077.2	+	5	543		c.e5+1		VTI1A_ENST00000432306.1_Splice_Site	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A						intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GTGGAAACCGGTAAGAATTCT	0.453			T	TCF7L2	colorectal																																	uc001kzz.3				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.e5+1		Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.							101	104	103					10																	114298090		2203	4300	6503	SO:0001630	splice_region_variant	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity	g.chr10:114298090G>A	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.427+1G>A	10.37:g.114298090G>A			Somatic				VTI1A_uc001kzy.3_Splice_Site_p.E143_splice	p.E143_splice	NM_145206	NP_660207	WXS	Illumina GAIIx	Phase_I	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	5	803	+		Colorectal(252;0.0314)|Breast(234;0.183)	143					A2A307|B4E137|Q5W0D7	Splice_Site	SNP	ENST00000393077.2	37	c.427_splice	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999303	0.74818	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VTI1A	114288080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.102000	0.94226	2.835000	0.97688	0.650000	0.86243	.		0.453	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2		Intron	19	61	0	0	0	1	0	19	61					A	114298090	G	A	114298090	5	1	233	1	0	0	0	0	0	0	1	0	17232	1275	44	2	446	2	VTI1A	10	114298090	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	15084766	114298090	21236657	29	4163											
SESN3	143686	broad.mit.edu	37	11	94963999	94963999	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:94963999G>A	ENST00000536441.1	-	1	362	c.26C>T	c.(25-27)tCg>tTg	p.S9L	SESN3_ENST00000393234.1_Missense_Mutation_p.S9L|RP11-712B9.2_ENST00000536683.1_RNA|RP11-712B9.2_ENST00000543150.1_RNA|RP11-712B9.2_ENST00000543573.1_RNA|SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000540692.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.S9L|SESN3_ENST00000278499.2_Intron	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	9					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GGCGGCGGCCGACGGGCTGCC	0.751																																						uc001pfk.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(25-27)tCg>tTg		Homo sapiens sestrin 3 (SESN3), mRNA.							6	10	9					11																	94963999		1906	3877	5783	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94963999G>A	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.26C>T	11.37:g.94963999G>A	ENSP00000441927:p.Ser9Leu		Somatic				SESN3_uc010rug.1_Intron|SESN3_uc001pfl.3_Missense_Mutation_p.S9L	p.S9L	NM_144665	NP_653266	WXS	Illumina GAIIx	Phase_I	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	0	248	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	9					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.26C>T	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	g	14.12	2.440317	0.43326	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495	T;T;T	0.23754	2.23;1.9;1.89	3.51	2.56	0.30785	.	0.405477	0.17910	U	0.157882	T	0.10637	0.0260	N	0.08118	0	0.24468	N	0.994409	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21895	-1.0232	10	0.21014	T	0.42	-14.1665	6.2253	0.20703	0.1099:0.1882:0.7018:0.0	.	9;9	P58005-3;P58005	.;SESN3_HUMAN	L	9	ENSP00000441927:S9L;ENSP00000376926:S9L;ENSP00000407008:S9L	ENSP00000376926:S9L	S	-	2	0	SESN3	94603647	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.608000	0.36847	1.804000	0.52760	0.556000	0.70494	TCG		0.751	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		5	9	0	0	0	1	0	5	9					A	94963999	G	A	94963999	3	1	233	1	0	0	0	0	1	0	0	0	14126	1059	37	1	1492	1	SESN3	11	94963999	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		94963999	40042517	30	4164											
C11orf53	341032	broad.mit.edu	37	11	111154827	111154827	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr11:111154827G>A	ENST00000280325.4	+	3	181	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	12								p.G12C(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGGTTACTACGGTGTCAGAAG	0.502											OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001plc.3																			1	Substitution - Missense(1)	p.G12C(2)|p.Y11Y(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(34-36)Ggt>Agt		Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.							145	146	146					11																	111154827		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111154827G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.34G>A	11.37:g.111154827G>A	ENSP00000280325:p.Gly12Ser		Somatic	OREG0021325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1433		p.G12S	NM_198498	NP_940900	WXS	Illumina GAIIx	Phase_I	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	2	181	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	12						Missense_Mutation	SNP	ENST00000280325.4	37	c.34G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461730	0.84425	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	L	0.60455	1.87	0.53688	D	0.999979	D	0.76494	0.999	D	0.66602	0.945	T	0.70335	-0.4900	9	0.31617	T	0.26	-19.5702	18.9569	0.92662	0.0:0.0:1.0:0.0	.	12	Q8IXP5	CK053_HUMAN	S	12	.	ENSP00000280325:G12S	G	+	1	0	C11orf53	110660037	1.000000	0.71417	0.235000	0.24058	0.962000	0.63368	5.780000	0.68956	2.826000	0.97356	0.563000	0.77884	GGT		0.502	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		7	178	0	0	0	1	0	7	178					A	111154827	G	A	111154827	3	1	233	1	0	0	0	0	1	0	0	0	1648	1116	39	1	40	1	C11orf53	11	111154827	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	16190828	111154827	23851689	31	4165											
DNAJC22	79962	broad.mit.edu	37	12	49742735	49742735	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr12:49742735G>A	ENST00000549441.2	+	3	1284	c.80G>A	c.(79-81)aGg>aAg	p.R27K	DNAJC22_ENST00000395069.3_Missense_Mutation_p.R27K			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	27						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TACCTGGGAAGGGACAGCCAC	0.652																																						uc001rua.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(79-81)aGg>aAg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.							37	44	42					12																	49742735		2203	4299	6502	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742735G>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"Heat shock proteins / DNAJ (HSP40)"	25802	protein-coding gene	gene with protein product	"wurst homolog (Drosophila)"					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.80G>A	12.37:g.49742735G>A	ENSP00000446830:p.Arg27Lys		Somatic				DNAJC22_uc001rub.3_Missense_Mutation_p.R27K	p.R27K	NM_024902	NP_079178	WXS	Illumina GAIIx	Phase_I	Q8N4W6	DJC22_HUMAN			1	481	+			27					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.80G>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075311	0.94000	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.58797	0.31;0.31	4.91	4.91	0.64330	TM2 (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.33624	1.015	0.52501	D	0.999958	D	0.57257	0.979	P	0.56823	0.807	T	0.67526	-0.5648	10	0.87932	D	0	-10.4055	17.2967	0.87172	0.0:0.0:1.0:0.0	.	27	Q8N4W6	DJC22_HUMAN	K	27	ENSP00000446830:R27K;ENSP00000378508:R27K	ENSP00000378508:R27K	R	+	2	0	DNAJC22	48029002	1.000000	0.71417	0.913000	0.36048	0.995000	0.86356	9.060000	0.93907	2.452000	0.82932	0.556000	0.70494	AGG		0.652	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		4	78	0	0	0	1	0	4	78					A	49742735	G	A	49742735	3	1	233	1	0	0	0	0	1	0	0	0	4641	1000	35	2	82	2	DNAJC22	12	49742735	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		49742735	84109160	32	4166											
RYR3	6263	broad.mit.edu	37	15	33833092	33833092	+	Splice_Site	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:33833092G>A	ENST00000389232.4	+	7	716		c.e7+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)		ATCGAAGAAGGTGTGCTTCTT	0.428																																						uc001zhi.3																			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.e7+1		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							99	96	97					15																	33833092		1987	4152	6139	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33833092G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.646+1G>A	15.37:g.33833092G>A			Somatic				RYR3_uc010bar.3_Splice_Site_p.G216_splice	p.G216_splice	NM_001036	NP_001027	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	7	716	+		all_lung(180;7.18e-09)	216			MIR 3.		O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.646_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670326	0.88348	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.95	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7944	0.69868	0.0695:0.0:0.9305:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31620384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.755000	0.98912	1.534000	0.49203	0.655000	0.94253	.		0.428	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	6	62	0	0	0	1	0	6	62					A	33833092	G	A	33833092	5	1	233	1	0	0	0	0	0	0	1	0	13770	1275	44	2	673	2	RYR3	15	33833092	Splice_Site	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		33833092	68698300	33	4167											
ZNF710	374655	broad.mit.edu	37	15	90617455	90617455	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr15:90617455C>T	ENST00000268154.4	+	4	2009	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	586					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(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGTTTAATCTCAAGGGCAACC	0.592																																						uc002bov.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1756-1758)ctC>ctT		Homo sapiens zinc finger protein 710 (ZNF710), mRNA.							58	52	54					15																	90617455		2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90617455C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1758C>T	15.37:g.90617455C>T			Somatic					p.L586L	NM_198526	NP_940928	WXS	Illumina GAIIx	Phase_I	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		3	1881	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		586					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1758C>T	CCDS10358.1																																																																																				0.592	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		18	33	0	0	0	1	0	18	33					T	90617455	C	T	90617455	2	4	233	1	0	0	0	0	0	0	0	1	18112	813	29	2		2	ZNF710	15	90617455	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	56784363	90617455	11913937	34	4168											
SPSB3	90864	broad.mit.edu	37	16	1828539	1828539	+	Silent	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:1828539G>A	ENST00000566339.1	-	3	531	c.201C>T	c.(199-201)ggC>ggT	p.G67G	SPSB3_ENST00000301717.4_Silent_p.G67G	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	67					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGAAGGACTCGCCGGTCACGG	0.677																																						uc002cmu.3																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(199-201)ggC>ggT		Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.							73	76	75					16																	1828539		2198	4300	6498	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1828539G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.201C>T	16.37:g.1828539G>A			Somatic				SPSB3_uc002cmt.3_5'UTR|SPSB3_uc010uvm.2_Silent_p.G122G	p.G67G	NM_080861	NP_543137	WXS	Illumina GAIIx	Phase_I	Q6PJ21	SPSB3_HUMAN			2	292	-			67					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.201C>T	CCDS32365.1																																																																																				0.677	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		16	58	0	0	0	1	0	16	58					A	1828539	G	A	1828539	2	1	233	1	0	0	0	0	0	0	0	1	15113	1074	38	1		1	SPSB3	16	1828539	Silent	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		1828539	88526214	35	4169											
RUNDC2A	92017	broad.mit.edu	37	16	12121194	12121194	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:12121194C>T	ENST00000566228.1	+	4	209	c.140C>T	c.(139-141)gCc>gTc	p.A47V		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	47	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGTCTGTGTGCCCAGTTTGAA	0.572																																						uc002dbw.2																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(139-141)gCc>gTc		Homo sapiens sorting nexin 29 (SNX29), mRNA.							99	92	95					16																	12121194		2197	4300	6497	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12121194C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.140C>T	16.37:g.12121194C>T	ENSP00000456480:p.Ala47Val		Somatic				SNX29_uc002dby.4_5'UTR	p.A47V	NM_032167	NP_115543	WXS	Illumina GAIIx	Phase_I	Q8TEQ0	SNX29_HUMAN			3	202	+			0					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.140C>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060546	0.76074	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.89	4.89	0.63831	.	0.070768	0.56097	D	0.000040	T	0.67608	0.2911	L	0.55481	1.735	0.80722	D	1	.	.	.	.	.	.	T	0.62812	-0.6775	7	0.22706	T	0.39	-9.9373	15.9258	0.79615	0.0:1.0:0.0:0.0	.	.	.	.	V	47	.	ENSP00000268271:A47V	A	+	2	0	RUNDC2A	12028695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.124000	0.77185	2.406000	0.81754	0.549000	0.68633	GCC		0.572	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			27	57	0	0	0	1	0	27	57					T	12121194	C	T	12121194	3	4	233	1	0	0	0	0	1	0	0	0	13743	739	26	2	154	2	RUNDC2A	16	12121194	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08	10292655	12121194	78233559	36	4170											
KIAA0174	9798	broad.mit.edu	37	16	71954709	71954709	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr16:71954709G>A	ENST00000378799.6	+	5	781	c.425G>A	c.(424-426)gGa>gAa	p.G142E	IST1_ENST00000544564.1_Missense_Mutation_p.G142E|IST1_ENST00000538565.1_Intron|IST1_ENST00000329908.8_Missense_Mutation_p.G142E|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000606369.1_Intron|IST1_ENST00000378798.5_Missense_Mutation_p.G142E|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.G142E|IST1_ENST00000535424.1_Missense_Mutation_p.G155E			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	142	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										AACCAGATTGGAACTGTGAAT	0.413																																						uc002fbj.1																			0											c.(463-465)gGa>gAa		Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA.							173	141	152					16																	71954709		2198	4300	6498	SO:0001583	missense	9798				cell cycle|cell division	ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle	protein binding	g.chr16:71954709G>A	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"KIAA0174"	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.425G>A	16.37:g.71954709G>A	ENSP00000368076:p.Gly142Glu		Somatic				IST1_uc010cgh.1_Missense_Mutation_p.G155E|IST1_uc002fbk.1_Missense_Mutation_p.G142E|IST1_uc002fbm.1_Missense_Mutation_p.G142E|IST1_uc002fbl.1_Missense_Mutation_p.G142E|IST1_uc010vml.1_5'Flank|IST1_uc010vmk.1_Intron	p.G155E			WXS	Illumina GAIIx	Phase_I	P53990	IST1_HUMAN			6	747	+			142			Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	c.464G>A	CCDS59272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.16|16.16	3.045818|3.045818	0.55110|0.55110	.|.	.|.	ENSG00000182149|ENSG00000182149	ENST00000541848|ENST00000535424;ENST00000378799;ENST00000424485;ENST00000538963;ENST00000329908;ENST00000378798;ENST00000456820	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Domain of unknown function DUF292, eukaryotic (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63581|0.63581	0.2523|0.2523	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|1.0;1.0;0.542;0.999	.|D;D;B;D	.|0.76575	.|0.988;0.982;0.213;0.983	T|T	0.61212|0.61212	-0.7108|-0.7108	5|9	.|0.28530	.|T	.|0.3	-14.5355|-14.5355	19.9677|19.9677	0.97275|0.97275	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;142;155	.|P53990;P53990-2;P53990-3;A8KAH5	.|IST1_HUMAN;.;.;.	K|E	29|155;142;138;131;142;142;80	.|.	.|ENSP00000330408:G142E	E|G	+|+	1|2	0|0	KIAA0174|KIAA0174	70512210|70512210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.807000|9.807000	0.99171|0.99171	2.727000|2.727000	0.93392|0.93392	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.413	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		3	83	0	0	0	1	0	3	83					A	71954709	G	A	71954709	3	1	233	1	0	0	0	0	1	0	0	0	8158	1174	41	2	439	2	KIAA0174	16	71954709	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	59833515	71954709	18400044	37	4171											
SLC16A13	201232	broad.mit.edu	37	17	6939881	6939881	+	Silent	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:6939881C>T	ENST00000308027.6	+	1	488	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	60						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCATAGGAATCGCGGTGCAGC	0.637																																						uc002geh.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(178-180)atC>atT		Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.							46	48	47					17																	6939881		2203	4300	6503	SO:0001819	synonymous_variant	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6939881C>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.180C>T	17.37:g.6939881C>T			Somatic					p.I60I	NM_201566	NP_963860	WXS	Illumina GAIIx	Phase_I	Q7RTY0	MOT13_HUMAN			0	488	+			60					A3KMG3|A5PKU5|Q2VP92	Silent	SNP	ENST00000308027.6	37	c.180C>T	CCDS11085.1																																																																																				0.637	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			5	42	0	0	0	1	0	5	42					T	6939881	C	T	6939881	2	4	233	1	0	0	0	0	0	0	0	1	14406	874	31	1		1	SLC16A13	17	6939881	Silent	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		6939881	74255329	38	4172											
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(154)|p.P191del(11)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.P191fs*53(4)|p.P191delP(4)|p.P191fs*56(3)|p.Q192H(3)|p.Q192K(3)|p.P191fs*6(2)|p.A189_Q192>E(2)|p.P191fs*15(2)|p.P191L(2)|p.P191R(2)|p.P191S(2)|p.G187fs*16(2)|p.P59delP(2)|p.P191_Q192delPQ(2)|p.P98delP(2)|p.Q192Q(2)|p.Q192del(2)|p.Q192fs*16(2)|p.L188_P191del(2)|p.Q192fs*30(2)|p.K164_P219del(1)|p.P59_E66>Q(1)|p.P191H(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P191P(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.P191T(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(574-576)Cag>Tag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							89	80	83					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.3_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.2_Nonsense_Mutation_p.Q153*	p.Q192*	NM_001126112	NP_001119587	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	26	0	0	0	1	0	9	26					A	7578275	G	A	7578275	4	1	233	1	0	0	0	0	0	1	0	0	16378	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	638394	7578275	73616935	39	4173											
PCGF2	7703	broad.mit.edu	37	17	36896590	36896591	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:36896590_36896591CC>TT	ENST00000580830.1	-	4	766_767	c.65_66GG>AA	c.(64-66)gGG>gAA	p.G22E	PCGF2_ENST00000585100.1_Missense_Mutation_p.G22E|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Missense_Mutation_p.G22E|PCGF2_ENST00000360797.2_Missense_Mutation_p.G22E|PCGF2_ENST00000581345.1_Missense_Mutation_p.G22E			P35227	PCGF2_HUMAN	polycomb group ring finger 2	22					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)					TGAAGTACCCCCCGCAGAGGGC	0.624																																						uc002hqp.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(64-66)ggg>gAA		Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.																																				SO:0001583	missense	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.chr17:36896590_36896591CC>TT	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.65_66delinsTT	17.37:g.36896590_36896591delinsTT	ENSP00000461961:p.Gly22Glu		Somatic					p.G22E	NM_007144	NP_009075	WXS	Illumina GAIIx	Phase_I	P35227	PCGF2_HUMAN			2	311_312	-	Breast(7;9.07e-22)		22					A6NGD8	Missense_Mutation	DNP	ENST00000580830.1	37	c.65_66GG>AA	CCDS32638.1																																																																																				0.624	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		10	57	0	0	0	1	0	10	57					TT	36896591	CC	TT	36896590	3	4	233	1	0	0	0	0	1	0	0	0	11575	610	22	2	1004	2	PCGF2	17	36896590	Missense_Mutation	DNP	CC	TCGA-EM-A1YB-01A-11D-A14W-08	29318315	36896590	44298620	40	4174											
ITGA3	3675	broad.mit.edu	37	17	48156836	48156836	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr17:48156836G>T	ENST00000320031.8	+	21	2951	c.2621G>T	c.(2620-2622)cGg>cTg	p.R874L	ITGA3_ENST00000007722.7_Missense_Mutation_p.R874L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	874					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CAGCGCAGGCGGCGACAGCTG	0.627																																						uc010dbm.3																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2620-2622)cGg>cTg		Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.							38	42	41					17																	48156836		2202	4299	6501	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156836G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2621G>T	17.37:g.48156836G>T	ENSP00000315190:p.Arg874Leu		Somatic				ITGA3_uc010dbl.3_Missense_Mutation_p.R874L	p.R874L	NM_005501	NP_005492	WXS	Illumina GAIIx	Phase_I	P26006	ITA3_HUMAN			20	3085	+			874					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2621G>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431169	0.62844	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.50277	0.75;0.75	4.79	4.79	0.61399	Integrin alpha-2 (1);	0.058114	0.64402	D	0.000003	T	0.56717	0.2004	M	0.72118	2.19	0.80722	D	1	D;B	0.52996	0.957;0.177	P;B	0.54544	0.755;0.069	T	0.57148	-0.7861	10	0.42905	T	0.14	.	8.8749	0.35339	0.0995:0.0:0.9005:0.0	.	874;874	P26006-1;P26006	.;ITA3_HUMAN	L	874;860;874	ENSP00000007722:R874L;ENSP00000315190:R874L	ENSP00000007722:R874L	R	+	2	0	ITGA3	45511835	0.985000	0.35326	0.928000	0.36995	0.917000	0.54804	2.363000	0.44178	2.486000	0.83907	0.313000	0.20887	CGG		0.627	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		4	66	0	0	0	1	0	4	66					T	48156836	G	T	48156836	3	4	233	1	0	0	0	0	1	0	0	0	7877	1116	39	4	2703	4	ITGA3	17	48156836	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	11260246	48156836	33038374	41	4175											
NAPG	8774	broad.mit.edu	37	18	10526109	10526109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr18:10526109C>T	ENST00000322897.6	+	1	79	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	NAPG_ENST00000542979.1_5'UTR	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	4					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						GATGGCGGCTCAGAAGATAAA	0.597																																						uc002kon.3																			0				large_intestine(2)|lung(2)	4						c.(10-12)Cag>Tag		Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.							48	57	54					18																	10526109		1962	4142	6104	SO:0001587	stop_gained	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10526109C>T	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.10C>T	18.37:g.10526109C>T	ENSP00000324628:p.Gln4*		Somatic				NAPG_uc010wzr.2_5'UTR	p.Q4*	NM_003826	NP_003817	WXS	Illumina GAIIx	Phase_I	Q99747	SNAG_HUMAN			0	237	+			4					B4DFC9|Q9BUV1	Nonsense_Mutation	SNP	ENST00000322897.6	37	c.10C>T	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	39	7.561878	0.98358	.	.	ENSG00000134265	ENST00000322897	.	.	.	5.15	5.15	0.70609	.	0.111193	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9878	16.1089	0.81244	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000324628:Q4X	Q	+	1	0	NAPG	10516109	1.000000	0.71417	0.978000	0.43139	0.956000	0.61745	5.979000	0.70508	2.392000	0.81423	0.555000	0.69702	CAG		0.597	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		3	28	0	0	0	1	0	3	28					T	10526109	C	T	10526109	4	4	233	1	0	0	0	0	0	1	0	0	10164	827	29	2	12	2	NAPG	18	10526109	Nonsense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		10526109	67551139	42	4176											
ZNF91	7644	broad.mit.edu	37	19	23544777	23544777	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:23544777G>A	ENST00000300619.7	-	4	1209	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	ZNF91_ENST00000397082.2_Missense_Mutation_p.S303L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	335					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAACGGCT	0.383																																						uc002nre.3																			0											c.(1003-1005)tCa>tTa		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							71	74	73					19																	23544777		2114	4253	6367	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544777G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1004C>T	19.37:g.23544777G>A	ENSP00000300619:p.Ser335Leu		Somatic				ZNF91_uc010xrj.2_Missense_Mutation_p.S303L	p.S335L	NM_003430	NP_003421	WXS	Illumina GAIIx	Phase_I	Q05481	ZNF91_HUMAN			3	1117	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	335					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1004C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567820	0.13560	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01705	4.68;4.68	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	M	0.76002	2.32	0.09310	N	1	P;P	0.40282	0.711;0.604	B;B	0.39068	0.289;0.22	T	0.36625	-0.9740	9	0.66056	D	0.02	.	5.4987	0.16817	0.1923:0.0:0.8077:0.0	.	303;335	Q05481-2;Q05481	.;ZNF91_HUMAN	L	335;303	ENSP00000300619:S335L;ENSP00000380272:S303L	ENSP00000300619:S335L	S	-	2	0	ZNF91	23336617	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.123000	0.10611	1.100000	0.41517	0.162000	0.16502	TCA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		20	75	0	0	0	1	0	20	75					A	23544777	G	A	23544777	3	1	233	1	0	0	0	0	1	0	0	0	18197	1294	45	2	2575	2	ZNF91	19	23544777	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08		23544777	35584206	43	4177											
IL29	282618	broad.mit.edu	37	19	39787080	39787080	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chr19:39787080G>A	ENST00000333625.2	+	1	116	c.19G>A	c.(19-21)Gtg>Atg	p.V7M		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	7					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										AGCTTGGACCGTGGTGCTGGT	0.567																																						uc002okv.3																			0				endometrium(2)|lung(2)	4						c.(19-21)Gtg>Atg		Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.							117	104	108					19																	39787080		2203	4300	6503	SO:0001583	missense	282618				defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding	g.chr19:39787080G>A	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.19G>A	19.37:g.39787080G>A	ENSP00000329991:p.Val7Met		Somatic					p.V7M	NM_172140	NP_742152	WXS	Illumina GAIIx	Phase_I	Q8IU54	IL29_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		0	116	+	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)		7					A0AV25|Q17R34	Missense_Mutation	SNP	ENST00000333625.2	37	c.19G>A	CCDS12531.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.647561	0.29246	.	.	ENSG00000182393	ENST00000333625	T	0.15487	2.42	3.71	2.65	0.31530	.	1.513180	0.04370	N	0.358921	T	0.12347	0.0300	L	0.36672	1.1	0.09310	N	1	P	0.41673	0.759	B	0.26969	0.075	T	0.31943	-0.9925	10	0.34782	T	0.22	-3.5037	8.8016	0.34912	0.0:0.7153:0.2847:0.0	.	7	Q8IU54	IL29_HUMAN	M	7	ENSP00000329991:V7M	ENSP00000329991:V7M	V	+	1	0	IL29	44478920	0.000000	0.05858	0.008000	0.14137	0.505000	0.33919	-0.318000	0.08050	0.764000	0.33197	0.450000	0.29827	GTG		0.567	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		19	60	0	0	0	1	0	19	60					A	39787080	G	A	39787080	3	1	233	1	0	0	0	0	1	0	0	0	7685	1145	40	1	21	1	IL29	19	39787080	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	16242303	39787080	19341903	44	4178											
DCX	1641	broad.mit.edu	37	X	110653602	110653602	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:110653602C>A	ENST00000338081.3	-	2	439	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	DCX_ENST00000356220.3_Missense_Mutation_p.D9Y|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.D9Y|DCX_ENST00000356915.2_Missense_Mutation_p.D9Y|DCX_ENST00000488120.1_Missense_Mutation_p.D9Y	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	90					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCTCTTTCGTCAAAGTGTCCA	0.507																																						uc011msv.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(268-270)Gac>Tac		Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.							105	96	99					X																	110653602		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653602C>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.268G>T	X.37:g.110653602C>A	ENSP00000337697:p.Asp90Tyr		Somatic				DCX_uc004epd.3_Missense_Mutation_p.D90Y|DCX_uc004epe.3_Missense_Mutation_p.D9Y|DCX_uc004epf.3_Missense_Mutation_p.D9Y|DCX_uc004epg.3_Missense_Mutation_p.D9Y	p.D90Y	NM_178152	NP_835365	WXS	Illumina GAIIx	Phase_I	O43602	DCX_HUMAN			1	440	-			90					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.268G>T	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402444|4.402444	0.83230|0.83230	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911|ENST00000358070	T;T;T;T;T;T|.	0.52754|.	1.5;1.5;1.38;1.5;1.5;0.65|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.54050|0.54050	-0.8351|-0.8351	10|5	0.87932|.	D|.	0|.	.|.	18.1845|18.1845	0.89789|0.89789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	78;90|.	B4DM53;O43602|.	.;DCX_HUMAN|.	Y|F	9;9;90;9;9;9|81	ENSP00000349385:D9Y;ENSP00000361061:D9Y;ENSP00000337697:D90Y;ENSP00000348553:D9Y;ENSP00000419861:D9Y;ENSP00000418811:D9Y|.	ENSP00000337697:D90Y|.	D|L	-|-	1|3	0|2	DCX|DCX	110540258|110540258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.651000|7.651000	0.83577|0.83577	2.487000|2.487000	0.83934|0.83934	0.513000|0.513000	0.50165|0.50165	GAC|TTG		0.507	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		27	112	0	0	0	1	0	27	112					A	110653602	C	A	110653602	3	1	233	1	0	0	0	0	1	0	0	0	4318	826	29	4	1096	4	DCX	23	110653602	Missense_Mutation	SNP	C	TCGA-EM-A1YB-01A-11D-A14W-08		110653602	44616958	45	4179											
CT47B1	643311	broad.mit.edu	37	X	120008779	120008779	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:120008779G>A	ENST00000371311.3	-	1	1000	c.746C>T	c.(745-747)cCg>cTg	p.P249L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	249										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTCTGAGGTCGGTTCCTCTGC	0.692																																						uc011muc.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(745-747)cCg>cTg		Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.							40	37	38					X																	120008779		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008779G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.746C>T	X.37:g.120008779G>A	ENSP00000360360:p.Pro249Leu		Somatic					p.P249L	NM_001145718	NP_001139190	WXS	Illumina GAIIx	Phase_I	P0C2W7	CT47B_HUMAN			0	1001	-			249					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.746C>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	8.643	0.896532	0.17686	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.43	-0.162	0.13367	.	.	.	.	.	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B	0.31989	0.35	B	0.15870	0.014	T	0.15435	-1.0437	8	0.72032	D	0.01	.	3.4761	0.07585	0.4483:0.0:0.5517:0.0	.	249	P0C2W7	CT47B_HUMAN	L	249	.	ENSP00000360360:P249L	P	-	2	0	CT47B1	119892807	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.161000	0.16481	-0.095000	0.12351	0.171000	0.16805	CCG		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		55	100	0	0	0	1	0	55	100					A	120008779	G	A	120008779	3	1	233	1	0	0	0	0	1	0	0	0	3989	1116	39	1	161	1	CT47B1	23	120008779	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	9355177	120008779	35261781	46	4180											
GABRA3	2556	broad.mit.edu	37	X	151336929	151336929	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YB-01A-11D-A14W-08	TCGA-EM-A1YB-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d01545d4-8162-4d14-9c1f-b86832e1c2d4	9443fcf8-ae1f-4a09-adf8-503bb03f63db	g.chrX:151336929G>T	ENST00000370314.4	-	10	1488	c.1250C>A	c.(1249-1251)tCc>tAc	p.S417Y	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417Y	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCGCCCTTGGAGATGGTGGA	0.557																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1249-1251)tCc>tAc		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						288	235	253					X																	151336929		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	g.chrX:151336929G>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1250C>A	X.37:g.151336929G>T	ENSP00000359337:p.Ser417Tyr		Somatic					p.S417Y	NM_000808	NP_000799	WXS	Illumina GAIIx	Phase_I	P34903	GBRA3_HUMAN			9	1490	-	Acute lymphoblastic leukemia(192;6.56e-05)		417					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1250C>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128935	0.77549	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82167	-1.58;-1.58;-1.58	4.71	4.71	0.59529	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.029980	0.07604	N	0.924197	D	0.84973	0.5591	L	0.39245	1.2	0.51482	D	0.999923	D	0.55385	0.971	P	0.52109	0.69	T	0.80039	-0.1549	10	0.72032	D	0.01	.	14.4152	0.67145	0.0:0.0:1.0:0.0	.	417	P34903	GBRA3_HUMAN	Y	417	ENSP00000359337:S417Y;ENSP00000359334:S417Y;ENSP00000443527:S417Y	ENSP00000359334:S417Y	S	-	2	0	GABRA3	151087585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.748000	0.98867	2.069000	0.61940	0.597000	0.82753	TCC		0.557	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		7	248	0	0	0	1	0	7	248					T	151336929	G	T	151336929	3	4	233	1	0	0	0	0	1	0	0	0	6162	1174	41	4	232	4	GABRA3	23	151336929	Missense_Mutation	SNP	G	TCGA-EM-A1YB-01A-11D-A14W-08	31328150	151336929	3933631	47	4181											
LPHN2	23266	broad.mit.edu	37	1	82436030	82436030	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr1:82436030C>G	ENST00000370728.1	+	18	3399	c.2754C>G	c.(2752-2754)caC>caG	p.H918Q	LPHN2_ENST00000370730.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.H918Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.H905Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.H843Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.H918Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.H918Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.H905Q			O95490	LPHN2_HUMAN	latrophilin 2	918					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)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTTCTACACTTTTTCTTTT	0.353																																						uc001dit.4																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2713-2715)caC>caG		Homo sapiens latrophilin 2 (LPHN2), mRNA.							148	146	147					1																	82436030		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436030C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2754C>G	1.37:g.82436030C>G	ENSP00000359763:p.His918Gln		Somatic				LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.H905Q|LPHN2_uc001div.3_Missense_Mutation_p.H905Q|LPHN2_uc009wcd.3_Missense_Mutation_p.H905Q|LPHN2_uc001diw.3_Missense_Mutation_p.H489Q|LPHN2_uc009wce.1_5'UTR	p.H905Q	NM_012302	NP_036434	WXS	Illumina GAIIx	Phase_I	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	14	2896	+			918					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2715C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.846504|2.846504	0.51164|0.51164	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	5.72|5.72	3.85|3.85	0.44370|0.44370	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69531|0.69531	0.3121|0.3121	M|M	0.88241|0.88241	2.94|2.94	0.52501|0.52501	D|D	0.999959|0.999959	D;D;D|.	0.65815|.	0.995;0.987;0.991|.	D;P;D|.	0.68765|.	0.96;0.833;0.96|.	T|T	0.74281|0.74281	-0.3716|-0.3716	10|5	0.59425|.	D|.	0.04|.	.|.	9.0623|9.0623	0.36442|0.36442	0.0:0.7804:0.0:0.2196|0.0:0.7804:0.0:0.2196	.|.	905;905;905|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Q|S	843;918;918;918;918;905;905;905;905;905;918;905;918;918|786	ENSP00000359756:H843Q;ENSP00000359763:H918Q;ENSP00000359765:H918Q;ENSP00000359762:H918Q;ENSP00000359760:H918Q;ENSP00000359758:H905Q;ENSP00000353006:H905Q;ENSP00000359750:H905Q;ENSP00000359748:H905Q;ENSP00000322270:H905Q;ENSP00000359752:H918Q;ENSP00000378344:H905Q;ENSP00000271029:H918Q;ENSP00000337306:H918Q|.	ENSP00000271029:H918Q|.	H|T	+|+	3|2	2|0	LPHN2|LPHN2	82208618|82208618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.445000|1.445000	0.35079|0.35079	1.418000|1.418000	0.47098|0.47098	0.591000|0.591000	0.81541|0.81541	CAC|ACT		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		43	69	0	0	0	1	0	43	69					G	82436030	C	G	82436030	3	3	234	1	0	0	0	0	1	0	0	0	8916	564	20	4	2765	4	LPHN2	1	82436030	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		82436030	166814591	1	4182											
SH3RF3	344558	broad.mit.edu	37	2	110036027	110036027	+	Silent	SNP	G	G	A	rs368091662	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr2:110036027G>A	ENST00000309415.6	+	5	1332	c.1332G>A	c.(1330-1332)acG>acA	p.T444T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	444							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTACCCCCACGGCTGTCCCAC	0.612													G|||	4	0.000798722	0	0	5008	,	,		17427	0		0	False		,,,				2504	0.0041					uc010ywt.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1330-1332)acG>acA		Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.		G		0,4044		0,0,2022	29	33	32		1332	-1.9	0.0	2		32	1,8359		0,1,4179	no	coding-synonymous	SH3RF3	NM_001099289.1		0,1,6201	AA,AG,GG		0.012,0.0,0.0081		444/883	110036027	1,12403	2022	4180	6202	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110036027G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1332G>A	2.37:g.110036027G>A			Somatic					p.T444T	NM_001099289	NP_001092759	WXS	Illumina GAIIx	Phase_I	Q8TEJ3	SH3R3_HUMAN			4	1332	+			444					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1332G>A																																																																																					0.612	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		2	3	0	0	0	1	0	2	3					A	110036027	G	A	110036027	2	1	234	1	0	0	0	0	0	0	0	1	14260	1103	39	1		1	SH3RF3	2	110036027	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		110036027	133163346	2	4183											
CDCP1	64866	broad.mit.edu	37	3	45135081	45135081	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr3:45135081G>A	ENST00000296129.1	-	6	1449	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	439	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCACAGGCAGGTGGAGGATG	0.592																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1315-1317)Ctg>Ttg		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							123	115	118					3																	45135081		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45135081G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1315C>T	3.37:g.45135081G>A			Somatic					p.L439L	NM_022842	NP_073753	WXS	Illumina GAIIx	Phase_I	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	5	1450	-			439			CUB.		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.1315C>T	CCDS2727.1																																																																																				0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		8	117	0	0	0	1	0	8	117					A	45135081	G	A	45135081	2	1	234	1	0	0	0	0	0	0	0	1	3093	991	35	2		2	CDCP1	3	45135081	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		45135081	152887349	3	4184											
HAPLN1	1404	broad.mit.edu	37	5	82940234	82940234	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr5:82940234C>A	ENST00000274341.4	-	4	1573	c.723G>T	c.(721-723)tgG>tgT	p.W241C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	241	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TATCTTTATCCCAAAATCCGT	0.448																																						uc003kim.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(721-723)tgG>tgT		Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.							63	69	67					5																	82940234		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940234C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.723G>T	5.37:g.82940234C>A	ENSP00000274341:p.Trp241Cys		Somatic				HAPLN1_uc003kin.3_Missense_Mutation_p.W241C	p.W241C	NM_001884	NP_001875	WXS	Illumina GAIIx	Phase_I	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	794	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	241			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.723G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911738	0.52439	.	.	ENSG00000145681	ENST00000274341;ENST00000510978	T;T	0.09255	3.0;3.0	5.5	5.5	0.81552	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.049974	0.85682	D	0.000000	T	0.07908	0.0198	N	0.08118	0	0.80722	D	1	P	0.43662	0.814	B	0.42386	0.386	T	0.21690	-1.0238	10	0.87932	D	0	.	14.0021	0.64439	0.0:0.9274:0.0:0.0726	.	241	P10915	HPLN1_HUMAN	C	241	ENSP00000274341:W241C;ENSP00000422592:W241C	ENSP00000274341:W241C	W	-	3	0	HAPLN1	82975990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.092000	0.30927	2.733000	0.93635	0.650000	0.86243	TGG		0.448	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		12	90	0	0	0	1	0	12	90					A	82940234	C	A	82940234	3	1	234	1	0	0	0	0	1	0	0	0	6954	624	22	4	349	4	HAPLN1	5	82940234	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		82940234	97975026	4	4185											
FLOT1	10211	broad.mit.edu	37	6	30707947	30707947	+	Silent	SNP	G	G	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr6:30707947G>C	ENST00000376389.3	-	8	931	c.711C>G	c.(709-711)gcC>gcG	p.A237A	FLOT1_ENST00000456573.2_Silent_p.A189A|FLOT1_ENST00000470643.1_5'UTR|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	GAAGCTGATAGGCCAGGTCAG	0.557																																						uc003nrm.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(709-711)gcC>gcG		Homo sapiens flotillin 1 (FLOT1), mRNA.							93	70	78					6																	30707947		1511	2709	4220	SO:0001819	synonymous_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707947G>C	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.711C>G	6.37:g.30707947G>C			Somatic				FLOT1_uc011dmr.2_Silent_p.A189A	p.A237A	NM_005803	NP_005794	WXS	Illumina GAIIx	Phase_I	O75955	FLOT1_HUMAN			7	875	-			237					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000376389.3	37	c.711C>G	CCDS4688.1																																																																																				0.557	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2			5	23	0	0	0	1	0	5	23					C	30707947	G	C	30707947	2	2	234	1	0	0	0	0	0	0	0	1	5936	987	35	4		4	FLOT1	6	30707947	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		30707947	140407120	5	4186											
AKR1D1	6718	broad.mit.edu	37	7	137792293	137792293	+	Silent	SNP	C	C	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr7:137792293C>T	ENST00000242375.3	+	7	864	c.822C>T	c.(820-822)agC>agT	p.S274S	AKR1D1_ENST00000432161.1_Silent_p.S274S|AKR1D1_ENST00000411726.2_Silent_p.S233S|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	274					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTCCTAAAAGCTTTAATCTTG	0.358																																						uc003vtz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(820-822)agC>agT		Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.							90	89	89					7																	137792293		2203	4300	6503	SO:0001819	synonymous_variant	6718				C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137792293C>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"Aldo-keto reductases"	388	protein-coding gene	gene with protein product	"delta 4-3-ketosteroid-5-beta-reductase"	604741	"aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.822C>T	7.37:g.137792293C>T			Somatic				AKR1D1_uc011kqf.2_Silent_p.S233S|AKR1D1_uc011kqe.1_Silent_p.S274S|AKR1D1_uc010lmy.1_Non-coding_Transcript	p.S274S	NM_005989	NP_005980	WXS	Illumina GAIIx	Phase_I	P51857	AK1D1_HUMAN			6	909	+			274					A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	c.822C>T	CCDS5846.1																																																																																				0.358	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		7	150	0	0	0	1	0	7	150					T	137792293	C	T	137792293	2	4	234	1	0	0	0	0	0	0	0	1	473	796	28	2		2	AKR1D1	7	137792293	Silent	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		137792293	21346370	6	4187											
VLDLR	7436	broad.mit.edu	37	9	2635558	2635558	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:2635558A>G	ENST00000382100.3	+	2	544	c.188A>G	c.(187-189)gAt>gGt	p.D63G	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.D63G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	63	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACGGCAGTGATGAAAAGAAC	0.373																																						uc003zhk.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(187-189)gAt>gGt		Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.							355	352	353					9																	2635558		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2635558A>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.188A>G	9.37:g.2635558A>G	ENSP00000371532:p.Asp63Gly		Somatic				VLDLR_uc003zhl.1_Missense_Mutation_p.D63G|VLDLR_uc003zhm.1_Non-coding_Transcript	p.D63G	NM_003383	NP_003374	WXS	Illumina GAIIx	Phase_I	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	1	585	+			63			LDL-receptor class A 1.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.188A>G	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811618	0.90707	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.99220	-5.58;-5.58;-5.58	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000077	D	0.99729	0.9894	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96998	0.9727	10	0.87932	D	0	.	16.4277	0.83824	1.0:0.0:0.0:0.0	.	63;63;63	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	63	ENSP00000371532:D63G;ENSP00000371528:D63G;ENSP00000371531:D63G	ENSP00000371528:D63G	D	+	2	0	VLDLR	2625558	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	GAT		0.373	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		5	140	0	0	0	1	0	5	140					G	2635558	A	G	2635558	3	3	234	1	0	0	0	0	1	0	0	0	17171	333	12	3	194	3	VLDLR	9	2635558	Missense_Mutation	SNP	A	TCGA-EM-A1YC-01A-11D-A14W-08		2635558	138577873	7	4188											
SHB	6461	broad.mit.edu	37	9	38068356	38068356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:38068356delT	ENST00000377707.3	-	1	852	c.287delA	c.(286-288)tacfs	p.Y96fs	SHB_ENST00000377700.4_Frame_Shift_Del_p.Y96fs|RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.Y96fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	96	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGGCCCGTTGTAGGGGTCCTC	0.706																																						uc004aax.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(286-288)tacfs		Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.							9	12	11					9																	38068356		1890	4118	6008	SO:0001589	frameshift_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38068356delT		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.287delA	9.37:g.38068356delT	ENSP00000366936:p.Tyr96fs		Somatic					p.Y96fs	NM_003028	NP_003019	WXS	Illumina GAIIx	Phase_I	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	0	855	-		all_epithelial(88;0.122)	96			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Frame_Shift_Del	DEL	ENST00000377707.3	37	c.287delA	CCDS43806.1																																																																																				0.706	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			2	4						2	4	---	---	---	---	-	38068356	T	-	38068356	7	5	234	1	0	1	0	1	0	0	0	0	14268	1638	57	0	1266	0	SHB	9	38068356	Frame_Shift_Del	DEL	T	TCGA-EM-A1YC-01A-11D-A14W-08	35432798	38068356	103145075	8	4189											
RUFY2	55680	broad.mit.edu	37	10	70164495	70164495	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr10:70164495A>T	ENST00000602465.1	-	2	211	c.111T>A	c.(109-111)gaT>gaA	p.D37E	RUFY2_ENST00000342616.4_Missense_Mutation_p.D37E|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000399200.2_Missense_Mutation_p.D37E|RUFY2_ENST00000388768.2_Missense_Mutation_p.D72E			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	86						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GATAGTCAGAATCCAAAGTGC	0.393																																						uc001job.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(214-216)gaT>gaA		Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.							134	132	132					10																	70164495		1902	4108	6010	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70164495A>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"Zinc fingers, FYVE domain containing"	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.111T>A	10.37:g.70164495A>T	ENSP00000473462:p.Asp37Glu		Somatic				RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.D37E|RUFY2_uc010qiw.2_Intron|RUFY2_uc001jod.1_Missense_Mutation_p.D37E|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.D37E	p.D72E	NM_017987	NP_060457	WXS	Illumina GAIIx	Phase_I	Q8WXA3	RUFY2_HUMAN			1	543	-			86					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.216T>A		.	.	.	.	.	.	.	.	.	.	A	19.49	3.838190	0.71373	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000342616	T;T;T	0.12039	2.72;2.72;2.72	4.5	0.733	0.18289	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.64997	1.995	0.80722	D	1	P;P;D;P	0.61697	0.617;0.811;0.99;0.811	B;P;D;P	0.72625	0.207;0.855;0.978;0.855	T	0.00948	-1.1504	10	0.48119	T	0.1	.	8.3991	0.32574	0.6594:0.0:0.3406:0.0	.	37;37;37;72	Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	E	72;37;37	ENSP00000373420:D72E;ENSP00000382151:D37E;ENSP00000341727:D37E	ENSP00000341727:D37E	D	-	3	2	RUFY2	69834501	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.954000	0.40362	0.263000	0.21812	0.459000	0.35465	GAT		0.393	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		6	88	0	0	0	1	0	6	88					T	70164495	A	T	70164495	3	4	234	1	0	0	0	0	1	0	0	0	13739	98	4	5	1890	5	RUFY2	10	70164495	Missense_Mutation	SNP	A	TCGA-EM-A1YC-01A-11D-A14W-08		70164495	65370252	9	4190											
SUV420H1	51111	broad.mit.edu	37	11	67925581	67925581	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:67925581G>C	ENST00000304363.4	-	11	2585	c.2232C>G	c.(2230-2232)agC>agG	p.S744R		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	744					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTAACTTGATGCTTATTTTGG	0.368																																						uc001onm.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2230-2232)agC>agG		Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.							194	194	194					11																	67925581		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925581G>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2232C>G	11.37:g.67925581G>C	ENSP00000305899:p.Ser744Arg		Somatic				SUV420H1_uc009yse.1_Missense_Mutation_p.S330R|SUV420H1_uc001onn.1_Missense_Mutation_p.S572R|SUV420H1_uc009ysf.2_Missense_Mutation_p.S504R	p.S744R	NM_017635	NP_060105	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			10	2488	-			744					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2232C>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533144	0.64972	.	.	ENSG00000110066	ENST00000304363	T	0.61859	0.07	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.72211	-0.4359	10	0.87932	D	0	-23.5464	18.6897	0.91578	0.0:0.0:1.0:0.0	.	744	Q4FZB7	SV421_HUMAN	R	744	ENSP00000305899:S744R	ENSP00000305899:S744R	S	-	3	2	SUV420H1	67682157	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.329000	0.96413	2.419000	0.82065	0.313000	0.20887	AGC		0.368	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		4	250	0	0	0	1	0	4	250					C	67925581	G	C	67925581	3	2	234	1	0	0	0	0	1	0	0	0	15411	1310	46	4	429	4	SUV420H1	11	67925581	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		67925581	67080935	10	4191											
INPPL1	3636	broad.mit.edu	37	11	71943766	71943766	+	Silent	SNP	C	C	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:71943766C>T	ENST00000298229.2	+	15	2013	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	INPPL1_ENST00000538751.1_Silent_p.F361F|INPPL1_ENST00000541756.1_Silent_p.F361F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	603					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACACCTCTTCTGGTTTGGGG	0.582																																						uc001osf.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1807-1809)ttC>ttT		Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.							92	89	90					11																	71943766		2200	4293	6493	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	g.chr11:71943766C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1809C>T	11.37:g.71943766C>T			Somatic				INPPL1_uc001osg.3_Silent_p.F361F	p.F603F	NM_001567	NP_001558	WXS	Illumina GAIIx	Phase_I	O15357	SHIP2_HUMAN			14	1956	+			603					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.1809C>T	CCDS8213.1																																																																																				0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		6	93	0	0	0	1	0	6	93					T	71943766	C	T	71943766	2	4	234	1	0	0	0	0	0	0	0	1	7761	912	32	2		2	INPPL1	11	71943766	Silent	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08	4018185	71943766	63062750	11	4192											
ATM	472	broad.mit.edu	37	11	108216586	108216586	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:108216586G>T	ENST00000452508.2	+	59	8724	c.8535G>T	c.(8533-8535)tgG>tgT	p.W2845C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.W2845C|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2845	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.W2845*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAGCTATTTGGTTTGAGAAGC	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Substitution - Nonsense(1)	p.W2845*(2)	NS(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8533-8535)tgG>tgT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							158	162	161					11																	108216586		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108216586G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8535G>T	11.37:g.108216586G>T	ENSP00000388058:p.Trp2845Cys	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Missense_Mutation_p.W2845C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.W1497C	p.W2845C	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	57	8920	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2845			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8535G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737759	0.89573	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83075	-1.68;-1.68	5.64	5.64	0.86602	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96828	0.9609	10	0.87932	D	0	.	19.6889	0.95989	0.0:0.0:1.0:0.0	.	2845	Q13315	ATM_HUMAN	C	2845	ENSP00000278616:W2845C;ENSP00000388058:W2845C	ENSP00000278616:W2845C	W	+	3	0	ATM	107721796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.847000	0.99503	2.650000	0.89964	0.650000	0.86243	TGG		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		98	80	0	0	0	1	0	98	80					T	108216586	G	T	108216586	3	4	234	1	0	0	0	0	1	0	0	0	1109	1270	44	4	8761	4	ATM	11	108216586	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08	36272820	108216586	26789930	12	4193											
KDM6B	23135	broad.mit.edu	37	17	7752257	7752257	+	Missense_Mutation	SNP	C	C	T	rs200066890	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:7752257C>T	ENST00000448097.2	+	11	2982	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	KDM6B_ENST00000254846.5_Missense_Mutation_p.A884V			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	884	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGCGCAGGGCGGGCGAAGAG	0.692													C|||	2	0.000399361	0	0	5008	,	,		5923	0.002		0	False		,,,				2504	0					uc002giw.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2650-2652)gCg>gTg		Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.																																				SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752257C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2651C>T	17.37:g.7752257C>T	ENSP00000412513:p.Ala884Val		Somatic				KDM6B_uc002gix.3_Missense_Mutation_p.A186V	p.A884V	NM_001080424	NP_001073893	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			10	3027	+			884			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2651C>T		.	.	.	.	.	.	.	.	.	.	C	9.856	1.194921	0.22037	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.77489	-1.1;-1.1	4.47	-0.204	0.13200	.	0.652904	0.15604	N	0.253750	T	0.55878	0.1948	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.39781	-0.9597	10	0.27082	T	0.32	-1.1734	7.3404	0.26633	0.0:0.5814:0.257:0.1616	.	884;884	O15054;O15054-1	KDM6B_HUMAN;.	V	884	ENSP00000254846:A884V;ENSP00000412513:A884V	ENSP00000254846:A884V	A	+	2	0	KDM6B	7692982	0.389000	0.25205	0.285000	0.24819	0.954000	0.61252	0.132000	0.15891	0.226000	0.20979	-0.448000	0.05591	GCG		0.692	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	12	0	0	0	1	0	3	12					T	7752257	C	T	7752257	3	4	234	1	0	0	0	0	1	0	0	0	8138	768	27	1	2681	1	KDM6B	17	7752257	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08		7752257	73442953	13	4194											
DNAH9	1770	broad.mit.edu	37	17	11584043	11584043	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:11584043C>G	ENST00000262442.4	+	19	3648	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1194V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1194	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCAGGAGCTGCCTGAGAA	0.527																																						uc002gne.3																			0		p.E1193E(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3580-3582)Ctg>Gtg		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							64	52	56					17																	11584043		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11584043C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3580C>G	17.37:g.11584043C>G	ENSP00000262442:p.Leu1194Val		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.L488V	p.L1194V	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	18	3648	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1194			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3580C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120361	0.56613	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.33216	1.47;1.42	5.37	3.32	0.38043	.	0.088829	0.47093	D	0.000260	T	0.59528	0.2200	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.69030	-0.5253	10	0.87932	D	0	.	12.9572	0.58434	0.0:0.8591:0.0:0.1409	.	1194	Q9NYC9	DYH9_HUMAN	V	1194	ENSP00000262442:L1194V;ENSP00000414874:L1194V	ENSP00000262442:L1194V	L	+	1	2	DNAH9	11524768	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	1.664000	0.37439	1.384000	0.46424	0.563000	0.77884	CTG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	20	0	0	0	1	0	3	20					G	11584043	C	G	11584043	3	3	234	1	0	0	0	0	1	0	0	0	4608	796	28	4	3654	4	DNAH9	17	11584043	Missense_Mutation	SNP	C	TCGA-EM-A1YC-01A-11D-A14W-08	3831786	11584043	69611167	14	4195											
C18orf34	374864	broad.mit.edu	37	18	30554616	30554616	+	Silent	SNP	T	T	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr18:30554616T>C	ENST00000383096.3	-	22	2600	c.2418A>G	c.(2416-2418)acA>acG	p.T806T	CCDC178_ENST00000406524.2_Silent_p.T830T|CCDC178_ENST00000581852.1_Silent_p.T11T|CCDC178_ENST00000403303.1_Silent_p.T806T|CCDC178_ENST00000300227.8_Silent_p.T768T|CCDC178_ENST00000583930.1_Silent_p.T830T|CCDC178_ENST00000579916.1_Silent_p.T126T|CCDC178_ENST00000402325.1_Silent_p.T756T|CCDC178_ENST00000579947.1_Silent_p.T806T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	806																	CCTGCCACAGTGTGTGCATCC	0.493																																						uc010xbr.1																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						c.(2488-2490)acA>acG		Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.							55	49	51					18																	30554616		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30554616T>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2418A>G	18.37:g.30554616T>C			Somatic				C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Silent_p.T270T|C18orf34_uc002kxn.2_Silent_p.T806T|C18orf34_uc010dmf.1_Silent_p.T126T|C18orf34_uc002kxo.2_Silent_p.T768T|C18orf34_uc002kxp.3_Silent_p.T806T	p.T830T	NM_001105528	NP_001098998	WXS	Illumina GAIIx	Phase_I	Q5BJE1	CR034_HUMAN			21	2632	-			806					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2490A>G	CCDS42424.1																																																																																				0.493	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		12	19	0	0	0	1	0	12	19					C	30554616	T	C	30554616	2	2	234	1	0	0	0	0	0	0	0	1	1902	1683	59	3		3	C18orf34	18	30554616	Silent	SNP	T	TCGA-EM-A1YC-01A-11D-A14W-08		30554616	47522632	15	4196											
TRAPPC10	7109	broad.mit.edu	37	21	45483558	45483558	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr21:45483558G>A	ENST00000291574.4	+	7	1105	c.930G>A	c.(928-930)ctG>ctA	p.L310L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	310					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCAGTTACCTGTTCTCTCGCC	0.582																																						uc002zea.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(928-930)ctG>ctA		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							122	113	116					21																	45483558		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45483558G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.930G>A	21.37:g.45483558G>A			Somatic				TRAPPC10_uc010gpo.3_Silent_p.L21L	p.L310L	NM_003274	NP_003265	WXS	Illumina GAIIx	Phase_I	P48553	TPC10_HUMAN			6	1099	+			310					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.930G>A	CCDS13704.1																																																																																				0.582	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	73	0	0	0	1	0	4	73					A	45483558	G	A	45483558	2	1	234	1	0	0	0	0	0	0	0	1	16454	1364	48	2		2	TRAPPC10	21	45483558	Silent	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08		45483558	2646337	16	4197											
EGFL6	25975	broad.mit.edu	37	X	13624630	13624630	+	Missense_Mutation	SNP	T	T	C	rs151014946	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:13624630T>C	ENST00000361306.1	+	6	910	c.653T>C	c.(652-654)aTa>aCa	p.I218T	EGFL6_ENST00000380602.3_Missense_Mutation_p.I218T	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	218					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TATGACTGTATAGGTAAGATT	0.398																																						uc004cvj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(652-654)aTa>aCa		Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.							193	176	182					X																	13624630		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13624630T>C	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.653T>C	X.37:g.13624630T>C	ENSP00000355126:p.Ile218Thr		Somatic				EGFL6_uc004cvi.3_Missense_Mutation_p.I218T|EGFL6_uc011mik.1_Missense_Mutation_p.I119T	p.I218T	NM_001167890	NP_001161362	WXS	Illumina GAIIx	Phase_I	Q8IUX8	EGFL6_HUMAN			5	940	+			218					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.653T>C	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	T	4.823	0.152987	0.09185	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.87412	-2.25;-2.25	5.25	4.04	0.47022	EGF-like calcium-binding (1);	0.486110	0.22288	N	0.062034	T	0.70037	0.3178	N	0.04669	-0.19	0.23673	N	0.997146	B;B	0.20887	0.003;0.049	B;B	0.18561	0.006;0.022	T	0.52866	-0.8518	10	0.11182	T	0.66	.	11.1036	0.48190	0.0:0.0:0.1531:0.8469	.	218;218	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	T	218	ENSP00000355126:I218T;ENSP00000369976:I218T	ENSP00000355126:I218T	I	+	2	0	EGFL6	13534551	1.000000	0.71417	0.463000	0.27130	0.017000	0.09413	4.550000	0.60733	0.619000	0.30197	0.432000	0.28606	ATA		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		17	180	0	0	0	1	0	17	180					C	13624630	T	C	13624630	3	2	234	1	0	0	0	0	1	0	0	0	4963	1406	49	3	675	3	EGFL6	23	13624630	Missense_Mutation	SNP	T	TCGA-EM-A1YC-01A-11D-A14W-08		13624630	141645930	17	4198											
TMEM35	59353	broad.mit.edu	37	X	100349805	100349805	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:100349805G>A	ENST00000372930.4	+	2	647	c.364G>A	c.(364-366)Gga>Aga	p.G122R	TMEM35_ENST00000478351.1_3'UTR|TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	122						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						TCTGGTGTTTGGAATCCTGCT	0.557																																						uc004egw.3																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(364-366)Gga>Aga		Homo sapiens transmembrane protein 35 (TMEM35), mRNA.							171	130	144					X																	100349805		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349805G>A	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.364G>A	X.37:g.100349805G>A	ENSP00000362021:p.Gly122Arg		Somatic					p.G122R	NM_021637	NP_067650	WXS	Illumina GAIIx	Phase_I	Q53FP2	TMM35_HUMAN			1	520	+			122					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.364G>A	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037794	0.75617	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69198	-0.5208	9	0.29301	T	0.29	-9.396	18.3931	0.90490	0.0:0.0:1.0:0.0	.	122	Q53FP2	TMM35_HUMAN	R	122;81	.	ENSP00000362021:G122R	G	+	1	0	TMEM35	100236461	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.194000	0.94962	2.284000	0.76573	0.594000	0.82650	GGA		0.557	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		17	131	0	0	0	1	0	17	131					A	100349805	G	A	100349805	3	1	234	1	0	0	0	0	1	0	0	0	16154	1349	47	2	370	2	TMEM35	23	100349805	Missense_Mutation	SNP	G	TCGA-EM-A1YC-01A-11D-A14W-08	86725175	100349805	54920755	18	4199											
NRP2	8828	broad.mit.edu	37	2	206630290	206630290	+	Silent	SNP	C	C	T			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr2:206630290C>T	ENST00000357785.5	+	14	2431	c.2400C>T	c.(2398-2400)tgC>tgT	p.C800C	AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000412873.2_Silent_p.C800C|NRP2_ENST00000540178.1_Silent_p.C800C|NRP2_ENST00000272849.3_Silent_p.C800C|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000360409.3_Silent_p.C800C|NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000540841.1_Silent_p.C800C|NRP2_ENST00000357118.4_Silent_p.C800C			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGAGAACTGCATGGGTATGT	0.478																																						uc002vaw.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2398-2400)tgC>tgT		Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.							226	209	214					2																	206630290		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206630290C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2400C>T	2.37:g.206630290C>T			Somatic				NRP2_uc002vau.3_Silent_p.C800C|NRP2_uc002vav.3_Silent_p.C800C|NRP2_uc002vax.3_Silent_p.C800C|NRP2_uc002vay.3_Silent_p.C800C	p.C800C	NM_201266	NP_957718	WXS	Illumina GAIIx	Phase_I	O60462	NRP2_HUMAN			13	3191	+			800			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.2400C>T	CCDS46496.1																																																																																				0.478	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			4	96	0	0	0	1	0	4	96					T	206630290	C	T	206630290	2	4	235	1	0	0	0	0	0	0	0	1	10661	718	25	2		2	NRP2	2	206630290	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		206630290	36569083	1	4200											
ZFP42	132625	broad.mit.edu	37	4	188924090	188924090	+	Silent	SNP	C	C	T			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr4:188924090C>T	ENST00000326866.4	+	4	537	c.129C>T	c.(127-129)gtC>gtT	p.V43V	ZFP42_ENST00000509524.1_Silent_p.V43V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	43					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGAACCTGTCAGCGCGGTGT	0.562																																						uc003izh.1																			0		p.P42H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(127-129)gtC>gtT		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							107	93	98					4																	188924090		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924090C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.129C>T	4.37:g.188924090C>T			Somatic				ZFP42_uc003izi.1_Silent_p.V43V|ZFP42_uc021xvm.1_Silent_p.V43V	p.V43V	NM_174900	NP_777560	WXS	Illumina GAIIx	Phase_I	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	537	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	43					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.129C>T	CCDS3849.1																																																																																				0.562	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		25	40	0	0	0	1	0	25	40					T	188924090	C	T	188924090	2	4	235	1	0	0	0	0	0	0	0	1	17647	813	29	2		2	ZFP42	4	188924090	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		188924090	2230186	2	4201											
SKAP2	8935	broad.mit.edu	37	7	26766512	26766512	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr7:26766512G>A	ENST00000345317.2	-	7	896	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	SKAP2_ENST00000539623.1_Missense_Mutation_p.R23C|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	195	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R195G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGATATATACGTTTATCAGGA	0.303																																						uc003syc.3																			1	Substitution - Missense(1)	p.R195G(2)|p.R195H(1)	lung(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(583-585)Cgt>Tgt		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							96	88	91					7																	26766512		2202	4299	6501	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26766512G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.583C>T	7.37:g.26766512G>A	ENSP00000005587:p.Arg195Cys		Somatic				SKAP2_uc011jzi.2_Missense_Mutation_p.R23C|SKAP2_uc011jzj.2_Missense_Mutation_p.R180C	p.R195C	NM_003930	NP_003921	WXS	Illumina GAIIx	Phase_I	O75563	SKAP2_HUMAN			6	876	-			195			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.583C>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139300	0.77775	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.18502	2.21;2.21	5.71	5.71	0.89125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65319	-0.6197	10	0.87932	D	0	-16.3262	19.921	0.97085	0.0:0.0:1.0:0.0	.	180;195	B7Z5N4;O75563	.;SKAP2_HUMAN	C	195;23;180	ENSP00000005587:R195C;ENSP00000443593:R23C	ENSP00000005587:R195C	R	-	1	0	SKAP2	26733037	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.472000	0.97709	2.712000	0.92718	0.644000	0.83932	CGT		0.303	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			15	34	0	0	0	1	0	15	34					A	26766512	G	A	26766512	3	1	235	1	0	0	0	0	1	0	0	0	14356	1145	40	1	520	1	SKAP2	7	26766512	Missense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		26766512	132372151	3	4202											
WT1	7490	broad.mit.edu	37	11	32414222	32414222	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr11:32414222C>A	ENST00000379079.2	-	8	966	c.693G>T	c.(691-693)agG>agT	p.R231S	WT1_ENST00000448076.3_Missense_Mutation_p.R443S|WT1_ENST00000530998.1_Missense_Mutation_p.R214S|WT1_ENST00000332351.3_Missense_Mutation_p.R443S	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	375					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTGTATGTCTCCTTTGGTGTC	0.438			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.2			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	0		p.M442fs*9(1)		NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(1327-1329)agG>agT		Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.							187	155	166					11																	32414222		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32414222C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.693G>T	11.37:g.32414222C>A	ENSP00000368370:p.Arg231Ser		Somatic				WT1_uc001mtl.2_Missense_Mutation_p.R231S|WT1_uc001mtm.2_Missense_Mutation_p.R214S|WT1_uc001mto.2_Missense_Mutation_p.R443S|WT1_uc001mtq.2_Missense_Mutation_p.R426S|WT1_uc009yjs.2_Non-coding_Transcript	p.R443S	NM_024426	NP_077744	WXS	Illumina GAIIx	Phase_I	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		7	1519	-	Breast(20;0.247)		375					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1329G>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931831	0.73442	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.73	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.42517	0.1206	L	0.52364	1.645	0.58432	D	0.999998	D;D;D;P;P	0.61080	0.987;0.989;0.988;0.942;0.953	D;D;D;P;D	0.70935	0.939;0.971;0.953;0.891;0.917	T	0.16988	-1.0384	10	0.87932	D	0	.	11.7909	0.52070	0.0:0.8698:0.0:0.1302	.	431;375;448;214;231	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	S	231;443;214;426;443	ENSP00000368370:R231S;ENSP00000331327:R443S;ENSP00000435307:R214S;ENSP00000415516:R426S;ENSP00000413452:R443S	ENSP00000331327:R443S	R	-	3	2	WT1	32370798	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.423000	0.21313	2.868000	0.98415	0.555000	0.69702	AGG		0.438	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		4	32	0	0	0	1	0	4	32					A	32414222	C	A	32414222	3	1	235	1	0	0	0	0	1	0	0	0	17405	854	30	4	236	4	WT1	11	32414222	Missense_Mutation	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		32414222	102592294	4	4203											
KRT79	338785	broad.mit.edu	37	12	53225273	53225273	+	Silent	SNP	C	C	T	rs200800580		TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr12:53225273C>T	ENST00000330553.5	-	2	649	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	205	Coil 1B.|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						GTCTGTCCAGCGTGCTCCGCA	0.607																																						uc001sbb.3																			0		p.T205M(1)		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.(613-615)acG>acA		Homo sapiens keratin 79 (KRT79), mRNA.							112	108	109					12																	53225273		2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53225273C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.615G>A	12.37:g.53225273C>T			Somatic				KRT79_uc001sba.3_5'Flank	p.T205T	NM_175834	NP_787028	WXS	Illumina GAIIx	Phase_I	Q5XKE5	K2C79_HUMAN			1	648	-			205			Coil 1B.|Rod.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.615G>A	CCDS8839.1																																																																																				0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		22	83	0	0	0	1	0	22	83					T	53225273	C	T	53225273	2	4	235	1	0	0	0	0	0	0	0	1	8492	755	27	1		1	KRT79	12	53225273	Silent	SNP	C	TCGA-EM-A1YD-01A-11D-A14W-08		53225273	80626622	5	4204											
ZNF319	57567	broad.mit.edu	37	16	58031260	58031260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr16:58031260G>A	ENST00000299237.2	-	2	1532	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CACGGGTGCTGCAGCAGCTCC	0.662																																						uc002emx.1																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(910-912)Cag>Tag		Homo sapiens zinc finger protein 319 (ZNF319), mRNA.							36	37	37					16																	58031260		2198	4300	6498	SO:0001587	stop_gained	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031260G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.910C>T	16.37:g.58031260G>A	ENSP00000299237:p.Gln304*		Somatic				ZNF319_uc021tjd.1_Nonsense_Mutation_p.Q304*	p.Q304*	NM_020807	NP_065858	WXS	Illumina GAIIx	Phase_I	Q9P2F9	ZN319_HUMAN			1	1533	-			304					Q52LH8	Nonsense_Mutation	SNP	ENST00000299237.2	37	c.910C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	42	9.297352	0.99128	.	.	ENSG00000166188	ENST00000299237	.	.	.	5.13	5.13	0.70059	.	0.130255	0.52532	U	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-26.217	17.579	0.87960	0.0:0.0:1.0:0.0	.	.	.	.	X	304	.	ENSP00000299237:Q304X	Q	-	1	0	ZNF319	56588761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.855000	0.86950	2.399000	0.81585	0.655000	0.94253	CAG		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			3	29	0	0	0	1	0	3	29					A	58031260	G	A	58031260	4	1	235	1	0	0	0	0	0	1	0	0	17834	1328	46	2	842	2	ZNF319	16	58031260	Nonsense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		58031260	32323493	6	4205											
PTPRT	11122	broad.mit.edu	37	20	41306647	41306647	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chr20:41306647G>A	ENST00000373187.1	-	7	1011	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	PTPRT_ENST00000373198.4_Missense_Mutation_p.H338Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H338Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H338Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H338Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	338	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGACTATGTGGGTCTCTGCC	0.567																																						uc010ggj.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1012-1014)Cac>Tac		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 1, mRNA.							148	155	153					20																	41306647		2042	4187	6229	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306647G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1012C>T	20.37:g.41306647G>A	ENSP00000362283:p.His338Tyr		Somatic				PTPRT_uc002xkg.3_Missense_Mutation_p.H338Y	p.H338Y	NM_133170	NP_573400	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			6	1196	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	338			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1012C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162273	0.38217	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112633	0.64402	D	0.000016	T	0.61211	0.2329	M	0.76838	2.35	0.51233	D	0.999918	B;B	0.32467	0.321;0.372	B;B	0.36030	0.138;0.216	T	0.65569	-0.6136	10	0.87932	D	0	.	19.1814	0.93625	0.0:0.0:1.0:0.0	.	338;338	O14522-1;O14522	.;PTPRT_HUMAN	Y	338	ENSP00000362286:H338Y;ENSP00000362283:H338Y;ENSP00000362289:H338Y;ENSP00000348408:H338Y;ENSP00000362294:H338Y;ENSP00000362280:H338Y;ENSP00000362297:H338Y	ENSP00000348408:H338Y	H	-	1	0	PTPRT	40740061	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	6.532000	0.73825	2.705000	0.92388	0.655000	0.94253	CAC		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			14	115	0	0	0	1	0	14	115					A	41306647	G	A	41306647	3	1	235	1	0	0	0	0	1	0	0	0	12812	1348	47	2	3474	2	PTPRT	20	41306647	Missense_Mutation	SNP	G	TCGA-EM-A1YD-01A-11D-A14W-08		41306647	21718873	7	4206											
ASMT	438	broad.mit.edu	37	X	1743168	1743168	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YD-01A-11D-A14W-08	TCGA-EM-A1YD-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aafa9d53-6742-48e3-ac67-7be5f7f48aa6	357a4434-cd9f-4fc5-bab7-5ef3a14fc76e	g.chrX:1743168A>G	ENST00000381229.4	+	3	287	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	ASMT_ENST00000381241.3_Missense_Mutation_p.Y84C|ASMT_ENST00000381233.3_Missense_Mutation_p.Y84C			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	84					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	TCAGCTTTCTATCGAAACACA	0.537																																						uc004cqd.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(250-252)tAt>tGt		Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.							158	152	154					X																	1743168		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity	g.chrX:1743168A>G	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.251A>G	X.37:g.1743168A>G	ENSP00000370627:p.Tyr84Cys		Somatic				ASMT_uc010ncy.3_Missense_Mutation_p.Y84C|ASMT_uc004cqe.3_Missense_Mutation_p.Y84C	p.Y84C	NM_004043	NP_004034	WXS	Illumina GAIIx	Phase_I	P46597	HIOM_HUMAN			3	467	+		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)	84					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.251A>G		.	.	.	.	.	.	.	.	.	.	a	13.20	2.165317	0.38217	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.72615	-0.67;-0.67;-0.67	1.79	1.79	0.24919	.	0.246868	0.34411	U	0.003995	T	0.78978	0.4369	M	0.89785	3.06	0.09310	N	1	P;P	0.49559	0.859;0.925	P;P	0.52627	0.56;0.704	T	0.70802	-0.4773	10	0.87932	D	0	.	6.8964	0.24259	1.0:0.0:0.0:0.0	.	84;84	P46597-2;P46597-3	.;.	C	84	ENSP00000370639:Y84C;ENSP00000370627:Y84C;ENSP00000370631:Y84C	ENSP00000370627:Y84C	Y	+	2	0	ASMT	1703168	0.932000	0.31603	0.005000	0.12908	0.023000	0.10783	3.243000	0.51392	0.546000	0.28920	0.345000	0.21793	TAT		0.537	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		35	96	0	0	0	1	0	35	96					G	1743168	A	G	1743168	3	3	235	1	0	0	0	0	1	0	0	0	1045	449	16	3	261	3	ASMT	23	1743168	Missense_Mutation	SNP	A	TCGA-EM-A1YD-01A-11D-A14W-08		1743168	153527392	8	4207											
GRIK3	2899	broad.mit.edu	37	1	37346338	37346338	+	Silent	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:37346338G>A	ENST00000373091.3	-	3	463	c.447C>T	c.(445-447)taC>taT	p.Y149Y	GRIK3_ENST00000373093.4_Silent_p.Y149Y	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	149					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)			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)				AGAGGTTCACGTAGAAGGTGT	0.602																																						uc001caz.2																			0				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.(445-447)taC>taT		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						348	300	316					1																	37346338		2203	4300	6503	SO:0001819	synonymous_variant	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	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr1:37346338G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.447C>T	1.37:g.37346338G>A			Somatic				GRIK3_uc001cba.1_Silent_p.Y149Y	p.Y149Y	NM_000831	NP_000822	WXS	Illumina GAIIx	Phase_I	Q13003	GRIK3_HUMAN			2	582	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	149					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.447C>T	CCDS416.1																																																																																				0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	82	0	0	0	1	0	8	82					A	37346338	G	A	37346338	2	1	236	1	0	0	0	0	0	0	0	1	6775	1140	40	1		1	GRIK3	1	37346338	Silent	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		37346338	211904283	1	4208											
CD1A	909	broad.mit.edu	37	1	158225840	158225840	+	Silent	SNP	A	A	G			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr1:158225840A>G	ENST00000289429.5	+	3	905	c.372A>G	c.(370-372)ggA>ggG	p.G124G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	124					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGCACTCTGGAAAGGTCTCAG	0.428																																						uc001frt.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(370-372)ggA>ggG		Homo sapiens CD1a molecule (CD1A), mRNA.	Antithymocyte globulin(DB00098)						84	81	82					1																	158225840		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		g.chr1:158225840A>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.372A>G	1.37:g.158225840A>G			Somatic				CD1A_uc021pbk.1_5'Flank	p.G124G	NM_001763	NP_001754	WXS	Illumina GAIIx	Phase_I	P06126	CD1A_HUMAN			2	905	+	all_hematologic(112;0.0378)		124					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.372A>G	CCDS1174.1																																																																																				0.428	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		4	79	0	0	0	1	0	4	79					G	158225840	A	G	158225840	2	3	236	1	0	0	0	0	0	0	0	1	2974	233	9	3		3	CD1A	1	158225840	Silent	SNP	A	TCGA-EM-A1YE-01A-11D-A14W-08	120879502	158225840	91024781	2	4209											
DNAH7	56171	broad.mit.edu	37	2	196913064	196913064	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr2:196913064T>C	ENST00000312428.6	-	4	306	c.206A>G	c.(205-207)gAt>gGt	p.D69G	DNAH7_ENST00000410072.1_Missense_Mutation_p.D69G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	69	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)			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						TGGACTCTCATCATCCTGCTT	0.358																																						uc002utj.4																			0				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.(205-207)gAt>gGt		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							128	121	123					2																	196913064		1887	4119	6006	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196913064T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.206A>G	2.37:g.196913064T>C	ENSP00000311273:p.Asp69Gly		Somatic					p.D69G	NM_018897	NP_061720	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			3	307	-			69			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.206A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827964	0.32329	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.24350	1.86;2.76	4.81	2.39	0.29439	.	1.917840	0.02155	N	0.058321	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.16217	-1.0410	10	0.27785	T	0.31	.	4.2472	0.10677	0.1757:0.0949:0.0:0.7294	.	69	Q8WXX0	DYH7_HUMAN	G	69;69;69;44	ENSP00000311273:D69G;ENSP00000386260:D69G	ENSP00000311273:D69G	D	-	2	0	DNAH7	196621309	0.004000	0.15560	0.000000	0.03702	0.182000	0.23217	1.502000	0.35704	0.417000	0.25871	0.477000	0.44152	GAT		0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	37	0	0	0	1	0	6	37					C	196913064	T	C	196913064	3	2	236	1	0	0	0	0	1	0	0	0	4606	1435	50	3	12116	3	DNAH7	2	196913064	Missense_Mutation	SNP	T	TCGA-EM-A1YE-01A-11D-A14W-08		196913064	46286309	3	4210											
ADAMTS3	9508	broad.mit.edu	37	4	73156663	73156663	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr4:73156663C>T	ENST00000286657.4	-	20	2876	c.2840G>A	c.(2839-2841)aGc>aAc	p.S947N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	947	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTATTTGCTGTGCACAGA	0.582																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2839-2841)aGc>aAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.							147	124	132					4																	73156663		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73156663C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2840G>A	4.37:g.73156663C>T	ENSP00000286657:p.Ser947Asn		Somatic					p.S947N	NM_014243	NP_055058	WXS	Illumina GAIIx	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	2877	-			947			TSP type-1 3.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2840G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659568	0.29515	.	.	ENSG00000156140	ENST00000286657	T	0.60672	0.17	5.42	3.68	0.42216	.	0.226039	0.42682	N	0.000672	T	0.38453	0.1041	L	0.35593	1.075	0.39734	D	0.971643	B	0.09022	0.002	B	0.18263	0.021	T	0.20974	-1.0259	10	0.20046	T	0.44	.	3.0996	0.06322	0.1945:0.5347:0.1202:0.1506	.	947	O15072	ATS3_HUMAN	N	947	ENSP00000286657:S947N	ENSP00000286657:S947N	S	-	2	0	ADAMTS3	73375527	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.274000	0.33132	1.286000	0.44565	0.557000	0.71058	AGC		0.582	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			3	79	0	0	0	1	0	3	79					T	73156663	C	T	73156663	3	4	236	1	0	0	0	0	1	0	0	0	267	797	28	2	789	2	ADAMTS3	4	73156663	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		73156663	117997613	4	4211											
ARHGAP26	23092	broad.mit.edu	37	5	142150381	142150381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr5:142150381C>T	ENST00000274498.4	+	1	433	c.55C>T	c.(55-57)Cga>Tga	p.R19*	ARHGAP26_ENST00000378004.3_Nonsense_Mutation_p.R19*	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	19					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCACTTCCGAGAGACGCT	0.647																																						uc011dbj.2																			0		p.R19L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(55-57)Cga>Tga		Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.							49	43	45					5																	142150381		2203	4300	6503	SO:0001587	stop_gained	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	g.chr5:142150381C>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.55C>T	5.37:g.142150381C>T	ENSP00000274498:p.Arg19*		Somatic				ARHGAP26_uc003lmt.3_Nonsense_Mutation_p.R19*|ARHGAP26_uc003lmw.3_Nonsense_Mutation_p.R19*	p.R19*	NM_015071	NP_055886	WXS	Illumina GAIIx	Phase_I	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	90	+		all_hematologic(541;0.0416)	19					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Nonsense_Mutation	SNP	ENST00000274498.4	37	c.55C>T	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	43	10.173406	0.99352	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	.	.	.	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8709	0.70456	0.1449:0.8551:0.0:0.0	.	.	.	.	X	19	.	ENSP00000274498:R19X	R	+	1	2	ARHGAP26	142130565	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.931000	0.28871	1.345000	0.45676	0.563000	0.77884	CGA		0.647	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		5	23	0	0	0	1	0	5	23					T	142150381	C	T	142150381	4	4	236	1	0	0	0	0	0	1	0	0	875	644	23	1	57	1	ARHGAP26	5	142150381	Nonsense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		142150381	38764879	5	4212											
TNRC18	84629	broad.mit.edu	37	7	5399130	5399130	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:5399130C>G	ENST00000430969.1	-	15	5080	c.4732G>C	c.(4732-4734)Ggg>Cgg	p.G1578R	TNRC18_ENST00000399537.4_Missense_Mutation_p.G1578R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1578							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCTCAGACCCCTTGTGTCTC	0.542																																						uc003soi.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4732-4734)Ggg>Cgg		Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.							215	210	212					7																	5399130		2030	4196	6226	SO:0001583	missense	84629						DNA binding	g.chr7:5399130C>G	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4732G>C	7.37:g.5399130C>G	ENSP00000395538:p.Gly1578Arg		Somatic				TNRC18_uc003soj.3_5'Flank	p.G1578R	NM_001080495	NP_001073964	WXS	Illumina GAIIx	Phase_I	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	14	5081	-		Ovarian(82;0.142)	1578					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4732G>C	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	18.04	3.535371	0.64972	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.50277	2.69;2.69;0.75	5.53	5.53	0.82687	.	0.000000	0.44483	D	0.000459	T	0.65626	0.2709	M	0.68952	2.095	0.39662	D	0.970621	D	0.89917	1.0	D	0.76575	0.988	T	0.60677	-0.7216	10	0.17369	T	0.5	.	17.6403	0.88133	0.0:1.0:0.0:0.0	.	1578	O15417	TNC18_HUMAN	R	1578;1578;633;68	ENSP00000382452:G1578R;ENSP00000395538:G1578R;ENSP00000395990:G68R	ENSP00000382452:G1578R	G	-	1	0	TNRC18	5365656	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	5.478000	0.66806	2.596000	0.87737	0.561000	0.74099	GGG		0.542	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				30	139	0	0	0	1	0	30	139					G	5399130	C	G	5399130	3	3	236	1	0	0	0	0	1	0	0	0	16336	623	22	4	4238	4	TNRC18	7	5399130	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		5399130	153739533	6	4213											
DGKB	1607	broad.mit.edu	37	7	14378197	14378198	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:14378197_14378198insT	ENST00000403951.2	-	23	2486_2487	c.2067_2068insA	c.(2065-2070)aaagggfs	p.G690fs	DGKB_ENST00000258767.5_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000406247.3_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000402815.1_Frame_Shift_Ins_p.G689fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Frame_Shift_Ins_p.G690fs|DGKB_ENST00000407950.1_Frame_Shift_Ins_p.G682fs|DGKB_ENST00000444700.2_Frame_Shift_Ins_p.G671fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	690					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGTCAGACCCTTTTTTCTCTA	0.401																																						uc003ssz.3																			0		p.G690V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2065-2070)aaagggfs		Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378197_14378198insT	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2068dupA	7.37:g.14378203_14378203dupT	ENSP00000385780:p.Gly690fs		Somatic				DGKB_uc011jxt.2_Frame_Shift_Ins_p.K670fs|DGKB_uc003sta.3_Frame_Shift_Ins_p.K689fs|DGKB_uc011jxu.2_Frame_Shift_Ins_p.K688fs	p.K689fs	NM_004080	NP_004071	WXS	Illumina GAIIx	Phase_I	Q9Y6T7	DGKB_HUMAN			21	2254_2255	-			689					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Frame_Shift_Ins	INS	ENST00000403951.2	37	c.2067_2068insA	CCDS47547.1																																																																																				0.401	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		29	52						29	52	---	---	---	---	T	14378198	-	T	14378197	7	5	236	1	0	1	1	0	0	0	0	0	4466	681	24	0	377	0	DGKB	7	14378197	Frame_Shift_Ins	INS	-	TCGA-EM-A1YE-01A-11D-A14W-08	8979067	14378197	144760466	7	4214											
METTL2B	55798	broad.mit.edu	37	7	128119449	128119449	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr7:128119449G>A	ENST00000262432.8	+	3	477	c.440G>A	c.(439-441)aGc>aAc	p.S147N	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.S82N	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	147					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCTTCGAAGAGCCTTGAACAT	0.418																																						uc003vnf.3																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(439-441)aGc>aAc		Homo sapiens methyltransferase like 2B (METTL2B), mRNA.							164	177	173					7																	128119449		2203	4300	6503	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119449G>A	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.440G>A	7.37:g.128119449G>A	ENSP00000262432:p.Ser147Asn		Somatic				METTL2B_uc003vng.3_Missense_Mutation_p.S82N|METTL2B_uc011kop.2_Missense_Mutation_p.S11N	p.S147N	NM_018396	NP_060866	WXS	Illumina GAIIx	Phase_I	Q6P1Q9	MTL2B_HUMAN			2	477	+			147					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.440G>A	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789078	0.16258	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;D;T	0.82081	2.21;-1.57;2.74	2.65	2.65	0.31530	.	0.971746	0.08556	N	0.928217	T	0.76779	0.4035	L	0.50333	1.59	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.60265	-0.7297	10	0.19590	T	0.45	-4.6257	8.9073	0.35532	0.0:0.0:1.0:0.0	.	82;147	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	N	141;147;82	ENSP00000418634:S141N;ENSP00000262432:S147N;ENSP00000418402:S82N	ENSP00000262432:S147N	S	+	2	0	METTL2B	127906685	0.066000	0.20996	0.011000	0.14972	0.116000	0.19942	2.151000	0.42263	1.492000	0.48499	0.405000	0.27470	AGC		0.418	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		18	89	0	0	0	1	0	18	89					A	128119449	G	A	128119449	3	1	236	1	0	0	0	0	1	0	0	0	9500	971	34	2	450	2	METTL2B	7	128119449	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08	113741252	128119449	31019214	8	4215											
OR1J2	26740	broad.mit.edu	37	9	125273560	125273560	+	Silent	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr9:125273560C>T	ENST00000335302.5	+	1	480	c.480C>T	c.(478-480)acC>acT	p.T160T		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCACACCCTTCTCCTGA	0.537																																						uc004bmj.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(478-480)acC>acT		Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.							198	158	172					9																	125273560		2203	4300	6503	SO:0001819	synonymous_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273560C>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.480C>T	9.37:g.125273560C>T			Somatic				OR1J2_uc011lyv.2_Silent_p.T160T	p.T160T	NM_054107	NP_473448	WXS	Illumina GAIIx	Phase_I	Q8NGS2	OR1J2_HUMAN			3	806	+			160					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	c.480C>T	CCDS35121.1																																																																																				0.537	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			8	76	0	0	0	1	0	8	76					T	125273560	C	T	125273560	2	4	236	1	0	0	0	0	0	0	0	1	10960	610	22	2		2	OR1J2	9	125273560	Silent	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		125273560	15939871	9	4216											
MYST4	23522	broad.mit.edu	37	10	76603076	76603076	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr10:76603076T>G	ENST00000287239.4	+	3	950	c.461T>G	c.(460-462)cTg>cGg	p.L154R	KAT6B_ENST00000372724.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372714.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372711.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372725.1_Missense_Mutation_p.L154R	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	154	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CGGCTGCGACTGGGGGCCAAA	0.522																																						uc001jwn.1																			0											c.(460-462)cTg>cGg		Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.							64	64	64					10																	76603076		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|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 factor binding|zinc ion binding	g.chr10:76603076T>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.461T>G	10.37:g.76603076T>G	ENSP00000287239:p.Leu154Arg		Somatic				KAT6B_uc001jwm.1_Missense_Mutation_p.L154R|KAT6B_uc001jwo.1_Missense_Mutation_p.L154R|KAT6B_uc001jwp.1_Missense_Mutation_p.L154R	p.L154R	NM_012330	NP_036462	WXS	Illumina GAIIx	Phase_I	Q8WYB5	MYST4_HUMAN			2	954	+			154			H15.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.461T>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106008	0.56291	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	6.04	6.04	0.98038	.	0.000000	0.35970	N	0.002868	T	0.49847	0.1581	M	0.77103	2.36	0.34845	D	0.741092	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.64807	-0.6320	10	0.87932	D	0	-6.3665	16.5885	0.84745	0.0:0.0:0.0:1.0	.	154;154;154	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	R	154	ENSP00000361810:L154R;ENSP00000361809:L154R;ENSP00000287239:L154R;ENSP00000361799:L154R;ENSP00000361796:L154R	ENSP00000287239:L154R	L	+	2	0	KAT6B	76273082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	CTG		0.522	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	63	0	0	0	1	0	3	63					G	76603076	T	G	76603076	3	3	236	1	0	0	0	0	1	0	0	0	10105	1580	55	5	463	5	MYST4	10	76603076	Missense_Mutation	SNP	T	TCGA-EM-A1YE-01A-11D-A14W-08		76603076	58931671	10	4217											
MSI1	4440	broad.mit.edu	37	12	120802533	120802533	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr12:120802533C>T	ENST00000257552.2	-	5	381	c.293G>A	c.(292-294)cGg>cAg	p.R98Q		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	98	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTGCTCGCCGAGGGAAGGC	0.522																																						uc001tye.1																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(292-294)cGg>cAg		Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.							180	178	179					12																	120802533		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120802533C>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.293G>A	12.37:g.120802533C>T	ENSP00000257552:p.Arg98Gln		Somatic					p.R98Q	NM_002442	NP_002433	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			4	357	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		98			RRM 1.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.293G>A	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.157859|5.157859	0.94686|0.94686	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|D	.|0.88664	.|-2.41	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.072118	.|0.53938	.|D	.|0.000045	D|D	0.93449|0.93449	0.7910|0.7910	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.68353	.|0.957	D|D	0.94038|0.94038	0.7307|0.7307	5|10	.|0.87932	.|D	.|0	.|.	18.4997|18.4997	0.90877|0.90877	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|98	.|O43347	.|MSI1H_HUMAN	S|Q	30|98	.|ENSP00000257552:R98Q	.|ENSP00000257552:R98Q	G|R	-|-	1|2	0|0	MSI1|MSI1	119286916|119286916	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.886000|0.886000	0.51366|0.51366	7.398000|7.398000	0.79919|0.79919	2.462000|2.462000	0.83206|0.83206	0.455000|0.455000	0.32223|0.32223	GGC|CGG		0.522	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		46	90	0	0	0	1	0	46	90					T	120802533	C	T	120802533	3	4	236	1	0	0	0	0	1	0	0	0	9875	652	23	1	835	1	MSI1	12	120802533	Missense_Mutation	SNP	C	TCGA-EM-A1YE-01A-11D-A14W-08		120802533	13049362	11	4218											
ZC3H4	23211	broad.mit.edu	37	19	47570455	47570455	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr19:47570455G>A	ENST00000253048.5	-	15	3107	c.3070C>T	c.(3070-3072)Cgg>Tgg	p.R1024W	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1024							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGCGCTGCCGGGCGTTGGGG	0.706																																						uc002pga.4																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(3070-3072)Cgg>Tgg		Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.							14	17	16					19																	47570455		1809	4040	5849	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570455G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3070C>T	19.37:g.47570455G>A	ENSP00000253048:p.Arg1024Trp		Somatic				ZC3H4_uc002pgb.1_Non-coding_Transcript	p.R1024W	NM_015168	NP_055983	WXS	Illumina GAIIx	Phase_I	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	3108	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1024					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.3070C>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699618	0.48307	.	.	ENSG00000130749	ENST00000253048	T	0.19250	2.16	5.23	4.18	0.49190	.	0.691249	0.13538	N	0.380446	T	0.37128	0.0992	L	0.44542	1.39	0.41505	D	0.9883	D	0.89917	1.0	D	0.66847	0.947	T	0.08006	-1.0743	10	0.62326	D	0.03	.	12.724	0.57159	0.0:0.0:0.7019:0.298	.	1024	Q9UPT8	ZC3H4_HUMAN	W	1024	ENSP00000253048:R1024W	ENSP00000253048:R1024W	R	-	1	2	ZC3H4	52262295	1.000000	0.71417	0.988000	0.46212	0.114000	0.19823	1.272000	0.33109	1.315000	0.45114	0.558000	0.71614	CGG		0.706	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			12	9	0	0	0	1	0	12	9					A	47570455	G	A	47570455	3	1	236	1	0	0	0	0	1	0	0	0	17567	1115	39	1	845	1	ZC3H4	19	47570455	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		47570455	11558528	12	4219											
MKL1	57591	broad.mit.edu	37	22	40815091	40815091	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YE-01A-11D-A14W-08	TCGA-EM-A1YE-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d6e12e0-19a7-4e52-84a2-707bfc16568d	7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf	g.chr22:40815091G>A	ENST00000355630.3	-	12	1941	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	MKL1_ENST00000396617.3_Missense_Mutation_p.P451S|MKL1_ENST00000407029.1_Missense_Mutation_p.P451S|MKL1_ENST00000402042.1_Missense_Mutation_p.P401S	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	451					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GACACGGGGGGCGTGGAGCCC	0.677			T	RBM15	acute megakaryocytic leukemia																																	uc003ayw.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1351-1353)Ccc>Tcc		Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.							14	13	13					22																	40815091		2195	4292	6487	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815091G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1351C>T	22.37:g.40815091G>A	ENSP00000347847:p.Pro451Ser		Somatic				MKL1_uc010gyf.1_Missense_Mutation_p.P401S|MKL1_uc010gye.1_Missense_Mutation_p.P451S|MKL1_uc003ayv.1_Missense_Mutation_p.P451S	p.P451S	NM_020831	NP_065882	WXS	Illumina GAIIx	Phase_I	Q969V6	MKL1_HUMAN			11	1943	-			451					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1351C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754194	0.31046	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.58358	0.44;0.34;0.34;0.44	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.91663	3.23	0.80722	D	1	D;B;P	0.53312	0.959;0.376;0.883	P;B;B	0.50109	0.631;0.073;0.327	T	0.71411	-0.4601	10	0.09084	T	0.74	-26.6888	18.3103	0.90197	0.0:0.0:1.0:0.0	.	401;451;451	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	S	451;451;401;451	ENSP00000347847:P451S;ENSP00000379861:P451S;ENSP00000385584:P401S;ENSP00000385835:P451S	ENSP00000347847:P451S	P	-	1	0	MKL1	39145037	1.000000	0.71417	0.586000	0.28679	0.257000	0.26127	7.802000	0.85969	2.553000	0.86117	0.655000	0.94253	CCC		0.677	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		5	3	0	0	0	1	0	5	3					A	40815091	G	A	40815091	3	1	236	1	0	0	0	0	1	0	0	0	9601	1203	42	2	1460	2	MKL1	22	40815091	Missense_Mutation	SNP	G	TCGA-EM-A1YE-01A-11D-A14W-08		40815091	10489475	13	4220											
PKD1L1	168507	broad.mit.edu	37	7	47944122	47944122	+	Missense_Mutation	SNP	C	C	T	rs200343133		TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr7:47944122C>T	ENST00000289672.2	-	12	1834	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	595	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGACGTGAGCCGATTGGCCAC	0.537													C|||	1	0.000199681	0	0	5008	,	,		20323	0.001		0	False		,,,				2504	0					uc003tny.2																		BBS9/PKD1L1(2)	0		p.R595W(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1783-1785)cGg>cAg		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.							104	79	88					7																	47944122		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47944122C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1784G>A	7.37:g.47944122C>T	ENSP00000289672:p.Arg595Gln		Somatic					p.R595Q	NM_138295	NP_612152	WXS	Illumina GAIIx	Phase_I	Q8TDX9	PK1L1_HUMAN			11	1818	-			595			PKD 2.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1784G>A	CCDS34633.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.59	3.855285	0.71719	.	.	ENSG00000158683	ENST00000289672	T	0.67345	-0.26	5.12	5.12	0.69794	PKD/Chitinase domain (1);PKD domain (1);	0.585786	0.15551	N	0.256403	T	0.81498	0.4835	M	0.75447	2.3	0.30744	N	0.745903	D	0.89917	1.0	D	0.78314	0.991	T	0.79029	-0.1970	10	0.42905	T	0.14	-27.1029	16.4699	0.84109	0.0:1.0:0.0:0.0	.	595	Q8TDX9	PK1L1_HUMAN	Q	595	ENSP00000289672:R595Q	ENSP00000289672:R595Q	R	-	2	0	PKD1L1	47910647	0.962000	0.33011	0.141000	0.22245	0.511000	0.34104	4.880000	0.63107	2.576000	0.86940	0.585000	0.79938	CGG		0.537	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		15	39	0	0	0	1	0	15	39					T	47944122	C	T	47944122	3	4	237	1	0	0	0	0	1	0	0	0	11964	652	23	1	6949	1	PKD1L1	7	47944122	Missense_Mutation	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		47944122	111194541	1	4221											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	25	0	0	0	1	0	9	25					T	140453136	A	T	140453136	3	4	237	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08	92509014	140453136	18685527	2	4222											
LRRCC1	85444	broad.mit.edu	37	8	86050374	86050374	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr8:86050374T>A	ENST00000360375.3	+	16	2747	c.2598T>A	c.(2596-2598)gaT>gaA	p.D866E	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D846E	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	866					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACAACTGGATGAGGTACTTG	0.318																																						uc003ycw.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2596-2598)gaT>gaA		Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.							39	36	37					8																	86050374		1820	4080	5900	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86050374T>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2598T>A	8.37:g.86050374T>A	ENSP00000353538:p.Asp866Glu		Somatic				LRRCC1_uc022awx.1_Missense_Mutation_p.D773E|LRRCC1_uc010maa.2_Missense_Mutation_p.D567E|LRRCC1_uc003ycy.3_Missense_Mutation_p.D846E	p.D866E	NM_033402	NP_208325	WXS	Illumina GAIIx	Phase_I	Q9C099	LRCC1_HUMAN			15	2806	+			866					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2598T>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.819591	0.00595	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.27104	1.69;1.69	5.58	4.38	0.52667	.	0.000000	0.39475	N	0.001353	T	0.13670	0.0331	L	0.27053	0.805	0.20821	N	0.999846	B;B;B	0.26975	0.165;0.095;0.012	B;B;B	0.24155	0.032;0.051;0.005	T	0.26815	-1.0092	10	0.02654	T	1	-26.3555	9.6618	0.39960	0.2658:0.0:0.0:0.7342	.	846;773;866	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	E	866;846	ENSP00000353538:D866E;ENSP00000394695:D846E	ENSP00000353538:D866E	D	+	3	2	LRRCC1	86237626	0.958000	0.32768	0.900000	0.35374	0.008000	0.06430	1.221000	0.32503	2.118000	0.64928	0.528000	0.53228	GAT		0.318	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		11	12	0	0	0	1	0	11	12					A	86050374	T	A	86050374	3	1	237	1	0	0	0	0	1	0	0	0	9026	1461	51	5	2660	5	LRRCC1	8	86050374	Missense_Mutation	SNP	T	TCGA-EM-A22I-01A-11D-A17V-08		86050374	60313648	3	4223											
OPLAH	26873	broad.mit.edu	37	8	145113595	145113595	+	Splice_Site	SNP	C	C	T			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr8:145113595C>T	ENST00000426825.1	-	6	669		c.e6-1		OPLAH_ENST00000534424.1_Splice_Site	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)						glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGCCCACCTATGACAAAA	0.657																																						uc003zar.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.e6-1		Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	L-Glutamic Acid(DB00142)						28	35	33					8																	145113595		2165	4263	6428	SO:0001630	splice_region_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113595C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.588-1G>A	8.37:g.145113595C>T			Somatic				OPLAH_uc003zat.1_Splice_Site	p.T196_splice	NM_017570	NP_060040	WXS	Illumina GAIIx	Phase_I	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	670	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		196					A5PKY8|Q75W65|Q9Y4Q0	Splice_Site	SNP	ENST00000426825.1	37	c.588_splice		.	.	.	.	.	.	.	.	.	.	C	14.61	2.588016	0.46110	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4249	0.67207	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPLAH	145185583	1.000000	0.71417	0.970000	0.41538	0.398000	0.30690	4.109000	0.57824	1.988000	0.58038	0.561000	0.74099	.		0.657	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	Intron	4	21	0	0	0	1	0	4	21					T	145113595	C	T	145113595	5	4	237	1	0	0	0	0	0	0	1	0	10876	695	24	2	3369	2	OPLAH	8	145113595	Splice_Site	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08	59063221	145113595	1250427	4	4224											
RC3H2	54542	broad.mit.edu	37	9	125639844	125639844	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr9:125639844A>G	ENST00000373670.1	-	8	1831	c.1231T>C	c.(1231-1233)Tac>Cac	p.Y411H	RC3H2_ENST00000373665.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000423239.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000357244.2_Missense_Mutation_p.Y411H|RC3H2_ENST00000335387.5_Missense_Mutation_p.Y411H|SNORD90_ENST00000391145.1_RNA			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	411					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTAGTCTTGTATTTGCTGTTT	0.418																																						uc010mwc.1																			0		p.Y411*(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1231-1233)Tac>Cac		Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.							207	199	202					9																	125639844		1898	4128	6026	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125639844A>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1231T>C	9.37:g.125639844A>G	ENSP00000362774:p.Tyr411His		Somatic				RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.Y411H|RC3H2_uc004bne.4_Missense_Mutation_p.Y411H|RC3H2_uc011lzf.2_Missense_Mutation_p.Y148H|RC3H2_uc011lzg.2_Missense_Mutation_p.Y411H	p.Y411H	NM_001100588	NP_001094058	WXS	Illumina GAIIx	Phase_I	Q9HBD1	RC3H2_HUMAN			8	1472	-			411					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1231T>C	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720573	0.89205	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.3	5.3	0.74995	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.81802	2.56	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;0.997;0.997	D;D;D;D	0.85130	0.997;0.995;0.992;0.986	T	0.78016	-0.2369	10	0.87932	D	0	-12.1453	14.4128	0.67128	1.0:0.0:0.0:0.0	.	411;282;411;411	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	H	411;411;282;411;411;411	ENSP00000362774:Y411H;ENSP00000349783:Y411H;ENSP00000411767:Y411H;ENSP00000362769:Y411H;ENSP00000335150:Y411H	ENSP00000335150:Y411H	Y	-	1	0	RC3H2	124679665	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.331000	0.96430	2.023000	0.59567	0.467000	0.42956	TAC		0.418	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		7	176	0	0	0	1	0	7	176					G	125639844	A	G	125639844	3	3	237	1	0	0	0	0	1	0	0	0	13167	449	16	3	2474	3	RC3H2	9	125639844	Missense_Mutation	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08		125639844	15573587	5	4225											
ANAPC2	29882	broad.mit.edu	37	9	140074764	140074765	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr9:140074764_140074765GC>AT	ENST00000323927.2	-	10	1762_1763	c.1758_1759GC>AT	c.(1756-1761)caGCca>caATca	p.P587S		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	587					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCGAACGGTGGCTGCTCCTCTG	0.644																																						uc004clr.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1756-1761)cagcca>caATca		Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.																																				SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140074764_140074765GC>AT	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1758_1759delinsAT	9.37:g.140074764_140074765delinsAT	ENSP00000314004:p.Pro587Ser		Somatic				ANAPC2_uc004clq.1_Missense_Mutation_p.P443S	p.P587S	NM_013366	NP_037498	WXS	Illumina GAIIx	Phase_I	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	9	1831_1832	-	all_cancers(76;0.0926)		587					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	DNP	ENST00000323927.2	37	c.1758_1759GC>AT	CCDS7033.1																																																																																				0.644	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		4	77	0	0	0	1	0	4	77					AT	140074765	GC	AT	140074764	3	1	237	1	0	0	0	0	1	0	0	0	603	1203	42	2	725	2	ANAPC2	9	140074764	Missense_Mutation	DNP	GC	TCGA-EM-A22I-01A-11D-A17V-08	14434920	140074764	1138667	6	4226											
C10orf99	387695	broad.mit.edu	37	10	85944480	85944480	+	Silent	SNP	G	G	A			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr10:85944480G>A	ENST00000372126.3	+	3	318	c.204G>A	c.(202-204)gaG>gaA	p.E68E	C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	68						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TTGAGCCAGAGCCCCGCCTTT	0.577																																						uc001kcu.3																			0		p.P67>?(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(202-204)gaG>gaA		Homo sapiens chromosome 10 open reading frame 99 (C10orf99), mRNA.							89	80	83					10																	85944480		2203	4300	6503	SO:0001819	synonymous_variant	387695					extracellular region		g.chr10:85944480G>A	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.204G>A	10.37:g.85944480G>A			Somatic					p.E68E	NM_207373	NP_997256	WXS	Illumina GAIIx	Phase_I	Q6UWK7	CJ099_HUMAN			2	258	+			68						Silent	SNP	ENST00000372126.3	37	c.204G>A	CCDS7371.1																																																																																				0.577	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		5	60	0	0	0	1	0	5	60					A	85944480	G	A	85944480	2	1	237	1	0	0	0	0	0	0	0	1	1628	962	34	2		2	C10orf99	10	85944480	Silent	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		85944480	49590267	7	4227											
ZFHX3	463	broad.mit.edu	37	16	72831798	72831798	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr16:72831798G>C	ENST00000268489.5	-	9	5455	c.4783C>G	c.(4783-4785)Cct>Gct	p.P1595A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P681A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1595					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)				CACTTAAAAGGTTTGTTGTCT	0.488																																						uc002fck.3																			0		p.P1595L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4783-4785)Cct>Gct		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							64	63	63					16																	72831798		2198	4300	6498	SO:0001583	missense	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.chr16:72831798G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4783C>G	16.37:g.72831798G>C	ENSP00000268489:p.Pro1595Ala		Somatic				ZFHX3_uc002fcl.3_Missense_Mutation_p.P681A	p.P1595A	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			8	5456	-		Ovarian(137;0.13)	1595					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4783C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993973	0.54041	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.34667	1.35;1.35	5.78	5.78	0.91487	Zinc finger, U1-type (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000132	T	0.56558	0.1993	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.51741	-0.8667	10	0.54805	T	0.06	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	1595	Q15911	ZFHX3_HUMAN	A	1595;681	ENSP00000268489:P1595A;ENSP00000438926:P681A	ENSP00000268489:P1595A	P	-	1	0	ZFHX3	71389299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CCT		0.488	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		21	48	0	0	0	1	0	21	48					C	72831798	G	C	72831798	3	2	237	1	0	0	0	0	1	0	0	0	17631	1261	44	4	6336	4	ZFHX3	16	72831798	Missense_Mutation	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		72831798	17522955	8	4228											
CACNB1	782	broad.mit.edu	37	17	37333738	37333738	+	Silent	SNP	C	C	T			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr17:37333738C>T	ENST00000394303.3	-	13	1404	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	CACNB1_ENST00000344140.5_Silent_p.E444E|RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.E399E	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	399					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGCCAGATGCTCGCAGGCAT	0.607																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1195-1197)gaG>gaA		Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						68	58	62					17																	37333738		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37333738C>T		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1197G>A	17.37:g.37333738C>T			Somatic				CACNB1_uc002hrl.1_Silent_p.E171E|CACNB1_uc002hrn.3_Silent_p.E399E|CACNB1_uc002hro.3_Silent_p.E444E	p.E399E	NM_000723	NP_000714	WXS	Illumina GAIIx	Phase_I	Q02641	CACB1_HUMAN			12	1405	-			399					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.1197G>A	CCDS42311.1																																																																																				0.607	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			16	27	0	0	0	1	0	16	27					T	37333738	C	T	37333738	2	4	237	1	0	0	0	0	0	0	0	1	2552	796	28	2		2	CACNB1	17	37333738	Silent	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		37333738	43861472	9	4229											
ARFGEF2	10564	broad.mit.edu	37	20	47621731	47621731	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr20:47621731C>T	ENST00000371917.4	+	26	3557	c.3557C>T	c.(3556-3558)cCc>cTc	p.P1186L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1186					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTCTGAGGCCCTTTGAGCAT	0.448																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3556-3558)cCc>cTc		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							118	117	117					20																	47621731		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	g.chr20:47621731C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3557C>T	20.37:g.47621731C>T	ENSP00000360985:p.Pro1186Leu		Somatic				ARFGEF2_uc010zyf.2_Missense_Mutation_p.P479L	p.P1186L	NM_006420	NP_006411	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		25	3709	+			1186					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3557C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292290	0.95546	.	.	ENSG00000124198	ENST00000371917	T	0.63255	-0.03	5.95	5.95	0.96441	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87562	0.2472	10	0.87932	D	0	.	20.3923	0.98948	0.0:1.0:0.0:0.0	.	1186	Q9Y6D5	BIG2_HUMAN	L	1186	ENSP00000360985:P1186L	ENSP00000360985:P1186L	P	+	2	0	ARFGEF2	47055138	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.805000	0.86005	2.831000	0.97527	0.609000	0.83330	CCC		0.448	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		12	91	0	0	0	1	0	12	91					T	47621731	C	T	47621731	3	4	237	1	0	0	0	0	1	0	0	0	853	623	22	2	3659	2	ARFGEF2	20	47621731	Missense_Mutation	SNP	C	TCGA-EM-A22I-01A-11D-A17V-08		47621731	15403789	10	4230											
RBM11	54033	broad.mit.edu	37	21	15599326	15599326	+	Silent	SNP	A	A	G			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chr21:15599326A>G	ENST00000400577.3	+	5	567	c.558A>G	c.(556-558)tcA>tcG	p.S186S	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	186					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GACCCAGCTCATATAAATGGA	0.453																																						uc002yjo.4																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(556-558)tcA>tcG		Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.							213	207	209					21																	15599326		1942	4139	6081	SO:0001819	synonymous_variant	54033						RNA binding|nucleotide binding	g.chr21:15599326A>G	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.558A>G	21.37:g.15599326A>G			Somatic				RBM11_uc002yjn.4_Silent_p.S72S|RBM11_uc002yjp.4_Silent_p.S72S	p.S186S	NM_144770	NP_658983	WXS	Illumina GAIIx	Phase_I	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	4	600	+			186					Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	ENST00000400577.3	37	c.558A>G	CCDS46635.1																																																																																				0.453	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		7	199	0	0	0	1	0	7	199					G	15599326	A	G	15599326	2	3	237	1	0	0	0	0	0	0	0	1	13112	204	8	3		3	RBM11	21	15599326	Silent	SNP	A	TCGA-EM-A22I-01A-11D-A17V-08		15599326	32530569	11	4231											
HCFC1	3054	broad.mit.edu	37	X	153228845	153228845	+	Silent	SNP	G	G	A			TCGA-EM-A22I-01A-11D-A17V-08	TCGA-EM-A22I-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0636a7b-490a-44e0-8512-062c989896ce	db5dcc71-4c5c-4843-9048-3c25cf68feb4	g.chrX:153228845G>A	ENST00000310441.7	-	4	1509	c.543C>T	c.(541-543)ggC>ggT	p.G181G	HCFC1_ENST00000369984.4_Silent_p.G181G|HCFC1_ENST00000354233.3_Silent_p.G181G|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	181					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACTCCAGAGCCTGGCCGTA	0.527																																						uc004fjp.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(541-543)ggC>ggT		Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.							59	61	60					X																	153228845		1961	4137	6098	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153228845G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.543C>T	X.37:g.153228845G>A			Somatic					p.G181G	NM_005334	NP_005325	WXS	Illumina GAIIx	Phase_I	P51610	HCFC1_HUMAN			3	1071	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		181					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.543C>T	CCDS44020.1																																																																																				0.527	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		24	44	0	0	0	1	0	24	44					A	153228845	G	A	153228845	2	1	237	1	0	0	0	0	0	0	0	1	6991	958	34	2		2	HCFC1	23	153228845	Silent	SNP	G	TCGA-EM-A22I-01A-11D-A17V-08		153228845	2041715	12	4232											
PPM1J	333926	broad.mit.edu	37	1	113256123	113256123	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:113256123C>T	ENST00000309276.6	-	2	612	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PPM1J_ENST00000464951.1_5'UTR|RP11-426L16.9_ENST00000566195.1_RNA|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.10_ENST00000606505.1_5'Flank|RP11-426L16.10_ENST00000471038.2_5'Flank	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	146	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)		TCTTACCTGGCCTCGGCTAGG	0.562																																						uc001ect.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(436-438)gGc>gAc		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.							209	173	185					1																	113256123		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113256123C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.437G>A	1.37:g.113256123C>T	ENSP00000308926:p.Gly146Asp		Somatic				PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR	p.G146D	NM_005167	NP_005158	WXS	Illumina GAIIx	Phase_I	Q5JR12	PPM1J_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)	1	464	-	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)	146			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.437G>A	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768646	0.15983	.	.	ENSG00000155367	ENST00000309276	T	0.30182	1.54	5.13	2.97	0.34412	Protein phosphatase 2C-like (4);	0.904437	0.09727	N	0.763669	T	0.07234	0.0183	L	0.36672	1.1	0.21984	N	0.99943	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	10	0.15952	T	0.53	-2.6614	4.2695	0.10780	0.0:0.5915:0.0:0.4085	.	146	Q5JR12	PPM1J_HUMAN	D	146	ENSP00000308926:G146D	ENSP00000308926:G146D	G	-	2	0	PPM1J	113057646	0.930000	0.31532	0.661000	0.29709	0.323000	0.28346	1.964000	0.40462	1.130000	0.42092	0.561000	0.74099	GGC		0.562	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		5	59	0	0	0	1	0	5	59					T	113256123	C	T	113256123	3	4	238	1	0	0	0	0	1	0	0	0	12342	739	26	2	1116	2	PPM1J	1	113256123	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		113256123	135994498	1	4233											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		60	88	0	0	0	1	0	60	88					C	115256529	T	C	115256529	3	2	238	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08	2000406	115256529	133994092	2	4234											
MTIF2	4528	broad.mit.edu	37	2	55470598	55470598	+	Silent	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:55470598T>C	ENST00000263629.4	-	12	1833	c.1518A>G	c.(1516-1518)aaA>aaG	p.K506K	MTIF2_ENST00000394600.3_Silent_p.K506K|MTIF2_ENST00000403721.1_Silent_p.K506K	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	506					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCCTTTTCTCTTTTGGCTTTA	0.313																																						uc002ryn.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(1516-1518)aaA>aaG		Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							94	96	95					2																	55470598		2202	4300	6502	SO:0001819	synonymous_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55470598T>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1518A>G	2.37:g.55470598T>C			Somatic				MTIF2_uc010yox.2_Silent_p.K175K|MTIF2_uc002ryo.3_Silent_p.K506K	p.K506K	NM_001005369	NP_002444	WXS	Illumina GAIIx	Phase_I	P46199	IF2M_HUMAN			12	2255	-			506					D6W5D0	Silent	SNP	ENST00000263629.4	37	c.1518A>G	CCDS1853.1																																																																																				0.313	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		3	89	0	0	0	1	0	3	89					C	55470598	T	C	55470598	2	2	238	1	0	0	0	0	0	0	0	1	9934	1606	56	3		3	MTIF2	2	55470598	Silent	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		55470598	187728775	3	4235											
STK25	10494	broad.mit.edu	37	2	242439602	242439602	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr2:242439602T>C	ENST00000316586.4	-	5	762	c.413A>G	c.(412-414)cAc>cGc	p.H138R	STK25_ENST00000403346.3_Missense_Mutation_p.H138R|STK25_ENST00000405585.1_Missense_Mutation_p.H61R|STK25_ENST00000405883.3_Missense_Mutation_p.H61R|STK25_ENST00000401869.1_Missense_Mutation_p.H138R|STK25_ENST00000543554.1_Missense_Mutation_p.H44R|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000535007.1_Missense_Mutation_p.H44R	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATGTCTCGGTGGATCTTGCG	0.582																																					NSCLC(99;1100 1566 7679 28647 48345)	uc002wbm.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(412-414)cAc>cGc		Homo sapiens serine/threonine kinase 25 (STK25), mRNA.							121	111	115					2																	242439602		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242439602T>C	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.413A>G	2.37:g.242439602T>C	ENSP00000325748:p.His138Arg		Somatic				STK25_uc002wbl.3_5'Flank|STK25_uc002wbn.3_Missense_Mutation_p.H138R|STK25_uc002wbo.3_Missense_Mutation_p.H61R|STK25_uc010zos.2_Missense_Mutation_p.H44R|STK25_uc010zot.2_Missense_Mutation_p.H64R|STK25_uc002wbp.3_Missense_Mutation_p.H138R|STK25_uc010fzo.3_Missense_Mutation_p.H61R|STK25_uc010zou.2_Missense_Mutation_p.H44R|STK25_uc010zov.2_Missense_Mutation_p.H44R|STK25_uc010zow.2_Missense_Mutation_p.H138R	p.H138R	NM_006374	NP_006365	WXS	Illumina GAIIx	Phase_I	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	684	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	138			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.413A>G	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.735697|4.735697	0.89482|0.89482	.|.	.|.	ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760;ENST00000429279;ENST00000436402;ENST00000440109;ENST00000435225|ENST00000423004	T;T;T;T;T;T;T;T;T;T;T;D;T;D;D|.	0.95307|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;0.48;0.48;0.48;0.48;-3.67;-1.32;-3.67;-3.67|.	5.07|5.07	5.07|5.07	0.68467|0.68467	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|D	0.91683|0.91683	0.7371|0.7371	H|H	0.99834|0.99834	4.825|4.825	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;1.0;1.0|.	D|D	0.95409|0.95409	0.8496|0.8496	10|5	0.87932|.	D|.	0|.	.|.	15.1502|15.1502	0.72692|0.72692	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	138;64;61;138|.	B4DZ52;B4DVS7;A8K6Z3;O00506|.	.;.;.;STK25_HUMAN|.	R|A	138;138;138;61;44;61;44;44;44;42;44;44;44;138;44;44|20	ENSP00000325748:H138R;ENSP00000384162:H138R;ENSP00000385687:H138R;ENSP00000384444:H61R;ENSP00000385541:H61R;ENSP00000444886:H44R;ENSP00000446008:H44R;ENSP00000399212:H44R;ENSP00000417020:H42R;ENSP00000403607:H44R;ENSP00000395104:H44R;ENSP00000404960:H44R;ENSP00000412617:H138R;ENSP00000403866:H44R;ENSP00000401114:H44R|.	ENSP00000325748:H138R|.	H|T	-|-	2|1	0|0	STK25|STK25	242088275|242088275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.834000|7.834000	0.86773|0.86773	2.035000|2.035000	0.60131|0.60131	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.582	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		5	57	0	0	0	1	0	5	57					C	242439602	T	C	242439602	3	2	238	1	0	0	0	0	1	0	0	0	15293	1696	59	3	899	3	STK25	2	242439602	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08	186969004	242439602	759771	4	4236											
CNTN3	5067	broad.mit.edu	37	3	74315640	74315640	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr3:74315640C>G	ENST00000263665.6	-	21	3005	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	993	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ACTGGTTATTCGTGGAATCCT	0.428																																						uc003dpm.1																			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.(2977-2979)cGa>cCa		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.							289	269	276					3																	74315640		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315640C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2978G>C	3.37:g.74315640C>G	ENSP00000263665:p.Arg993Pro		Somatic					p.R993P	NM_020872	NP_065923	WXS	Illumina GAIIx	Phase_I	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)	20	3058	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	993					B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2978G>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480441	0.63849	.	.	ENSG00000113805	ENST00000263665	T	0.47528	0.84	5.42	5.42	0.78866	Fibronectin, type III (1);	0.095905	0.64402	D	0.000001	T	0.40040	0.1101	N	0.14661	0.345	0.47621	D	0.999474	P	0.35684	0.515	P	0.44860	0.462	T	0.37314	-0.9711	10	0.45353	T	0.12	.	13.1937	0.59726	0.0:0.9229:0.0:0.0771	.	993	Q9P232	CNTN3_HUMAN	P	993	ENSP00000263665:R993P	ENSP00000263665:R993P	R	-	2	0	CNTN3	74398330	0.667000	0.27484	1.000000	0.80357	0.993000	0.82548	0.823000	0.27366	2.534000	0.85438	0.655000	0.94253	CGA		0.428	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		3	73	0	0	0	1	0	3	73					G	74315640	C	G	74315640	3	3	238	1	0	0	0	0	1	0	0	0	3642	884	31	4	116	4	CNTN3	3	74315640	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		74315640	123706790	5	4237											
ADH4	127	broad.mit.edu	37	4	100047817	100047817	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr4:100047817T>A	ENST00000265512.7	-	8	1120	c.1046A>T	c.(1045-1047)gAt>gTt	p.D349V	ADH4_ENST00000508393.1_Missense_Mutation_p.D368V|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.D368V|ADH4_ENST00000423445.1_Missense_Mutation_p.D368V	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	349					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CACCAGTGCATCCAGATTGAA	0.373																																						uc011ced.2																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1102-1104)gAt>gTt		Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	NADH(DB00157)						138	134	135					4																	100047817		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047817T>A	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.1046A>T	4.37:g.100047817T>A	ENSP00000265512:p.Asp349Val		Somatic				LOC100507053_uc003hum.2_Intron|ADH4_uc003hun.3_Missense_Mutation_p.D349V	p.D368V			WXS	Illumina GAIIx	Phase_I	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	8	1269	-			349					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.1103A>T	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615175	0.66672	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.75	3.58	0.41010	GroES-like (1);	0.000000	0.64402	U	0.000004	T	0.36110	0.0955	H	0.95004	3.61	0.80722	D	1	P;D	0.53619	0.898;0.961	P;P	0.57371	0.577;0.819	T	0.43261	-0.9402	10	0.87932	D	0	-5.1278	10.2182	0.43182	0.0:0.0781:0.0:0.9219	.	368;349	P08319-2;P08319	.;ADH4_HUMAN	V	368;349;368;368	ENSP00000424630:D368V;ENSP00000265512:D349V;ENSP00000397939:D368V;ENSP00000425416:D368V	ENSP00000265512:D349V	D	-	2	0	ADH4	100266840	1.000000	0.71417	0.678000	0.29963	0.897000	0.52465	5.703000	0.68340	0.859000	0.35456	0.533000	0.62120	GAT		0.373	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		20	56	0	0	0	1	0	20	56					A	100047817	T	A	100047817	3	1	238	1	0	0	0	0	1	0	0	0	310	1435	50	5	104	5	ADH4	4	100047817	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		100047817	91106459	6	4238											
FBN2	2201	broad.mit.edu	37	5	127638774	127638774	+	Silent	SNP	A	A	G			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:127638774A>G	ENST00000508053.1	-	52	6782	c.5808T>C	c.(5806-5808)gaT>gaC	p.D1936D	FBN2_ENST00000262464.4_Silent_p.D1936D			P35556	FBN2_HUMAN	fibrillin 2	1936	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCGCACTCATCAACATCTA	0.338																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5806-5808)gaT>gaC		Homo sapiens fibrillin 2 (FBN2), mRNA.							94	96	96					5																	127638774		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127638774A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5808T>C	5.37:g.127638774A>G			Somatic					p.D1936D	NM_001999	NP_001990	WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	45	6247	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1936			EGF-like 32; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.5808T>C	CCDS34222.1																																																																																				0.338	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		27	40	0	0	0	1	0	27	40					G	127638774	A	G	127638774	2	3	238	1	0	0	0	0	0	0	0	1	5703	214	8	3		3	FBN2	5	127638774	Silent	SNP	A	TCGA-EM-A22J-01A-11D-A17V-08		127638774	53276486	7	4239											
PCDHB5	26167	broad.mit.edu	37	5	140516258	140516258	+	Silent	SNP	C	C	T			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr5:140516258C>T	ENST00000231134.5	+	1	1459	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	414	Cadherin 4. {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(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCCAAGCCGAGTACAACA	0.498																																						uc003liq.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1240-1242)gcC>gcT		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							132	118	122					5																	140516258		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516258C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1242C>T	5.37:g.140516258C>T			Somatic					p.A414A	NM_015669	NP_056484	WXS	Illumina GAIIx	Phase_I	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1459	+			414			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1242C>T	CCDS4247.1																																																																																				0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		42	72	0	0	0	1	0	42	72					T	140516258	C	T	140516258	2	4	238	1	0	0	0	0	0	0	0	1	11545	639	23	1		1	PCDHB5	5	140516258	Silent	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08	12877484	140516258	40399002	8	4240											
CLDN15	24146	broad.mit.edu	37	7	100880845	100880845	+	Silent	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr7:100880845T>C	ENST00000401528.1	-	2	1143	c.18A>G	c.(16-18)gaA>gaG	p.E6E	CLDN15_ENST00000308344.5_Silent_p.E6E|CLDN15_ENST00000433422.1_5'UTR|FIS1_ENST00000482199.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	6					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCCAAAGGTTTCCACAGCCA	0.622																																						uc003uyg.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(16-18)gaA>gaG		Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.							101	80	87					7																	100880845		2203	4300	6503	SO:0001819	synonymous_variant	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100880845T>C	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"Claudins"	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.18A>G	7.37:g.100880845T>C			Somatic				CLDN15_uc003uyh.2_Silent_p.E6E|CLDN15_uc003uyi.3_Silent_p.E6E|CLDN15_uc022aja.1_Silent_p.E6E	p.E6E	NM_014343	NP_001172009	WXS	Illumina GAIIx	Phase_I	P56746	CLD15_HUMAN			0	383	-	Lung NSC(181;0.168)|all_lung(186;0.215)		6					B3KPB5	Silent	SNP	ENST00000401528.1	37	c.18A>G	CCDS5717.1																																																																																				0.622	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		4	38	0	0	0	1	0	4	38					C	100880845	T	C	100880845	2	2	238	1	0	0	0	0	0	0	0	1	3476	1838	64	3		3	CLDN15	7	100880845	Silent	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		100880845	58257818	9	4241											
SUSD1	64420	broad.mit.edu	37	9	114886546	114886546	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr9:114886546T>C	ENST00000374270.3	-	6	1049	c.877A>G	c.(877-879)Aca>Gca	p.T293A	SUSD1_ENST00000482851.1_5'Flank|SUSD1_ENST00000374263.3_Missense_Mutation_p.T293A|SUSD1_ENST00000374264.2_Missense_Mutation_p.T293A	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	293	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTGTGCATGTTAAAGTACTT	0.507																																						uc010mui.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(877-879)Aca>Gca		Homo sapiens sushi domain containing 1 (SUSD1), mRNA.							141	147	145					9																	114886546		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114886546T>C	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.877A>G	9.37:g.114886546T>C	ENSP00000363388:p.Thr293Ala		Somatic				MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T293A|SUSD1_uc010muj.3_Missense_Mutation_p.T293A	p.T293A			WXS	Illumina GAIIx	Phase_I	Q6UWL2	SUSD1_HUMAN			5	918	-			293			Sushi 2.		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.877A>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.422|9.422	1.083315|1.083315	0.20309|0.20309	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	5.96|5.96	-2.34|-2.34	0.06704|0.06704	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.675007	.|0.13156	.|N	.|0.409439	T|T	0.37100|0.37100	0.0991|0.0991	L|L	0.37630|0.37630	1.12|1.12	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.11329	.|0.003;0.004;0.006	T|T	0.22173|0.22173	-1.0224|-1.0224	5|10	.|0.07482	.|T	.|0.82	-4.5896|-4.5896	0.7024|0.7024	0.00910|0.00910	0.1785:0.2541:0.1426:0.4248|0.1785:0.2541:0.1426:0.4248	.|.	.|293;293;293	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	S|A	276|293	.|ENSP00000363388:T293A;ENSP00000363381:T293A;ENSP00000363382:T293A	.|ENSP00000363381:T293A	N|T	-|-	2|1	0|0	SUSD1|SUSD1	113926367|113926367	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.990000|0.990000	0.78478|0.78478	-0.137000|-0.137000	0.10389|0.10389	-0.073000|-0.073000	0.12842|0.12842	-0.256000|-0.256000	0.11100|0.11100	AAC|ACA		0.507	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		4	147	0	0	0	1	0	4	147					C	114886546	T	C	114886546	3	2	238	1	0	0	0	0	1	0	0	0	15404	1725	60	3	1414	3	SUSD1	9	114886546	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		114886546	26326885	10	4242											
LDLRAD3	143458	broad.mit.edu	37	11	36248871	36248871	+	Missense_Mutation	SNP	G	G	A	rs371720202		TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr11:36248871G>A	ENST00000315571.5	+	5	712	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V182I|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V221I	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	231					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCACTGCAACGTCACCTACAA	0.632																																						uc001mwk.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(691-693)Gtc>Atc		Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.		G	ILE/VAL	0,4404		0,0,2202	74	66	69		691	5.1	1.0	11		69	1,8595	1.2+/-3.3	0,1,4297	no	missense	LDLRAD3	NM_174902.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	231/346	36248871	1,12999	2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36248871G>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.691G>A	11.37:g.36248871G>A	ENSP00000318607:p.Val231Ile		Somatic				LDLRAD3_uc010rey.1_Missense_Mutation_p.V182I|LDLRAD3_uc010rez.1_Missense_Mutation_p.V110I|LDLRAD3_uc010rfa.1_Intron	p.V231I	NM_174902	NP_777562	WXS	Illumina GAIIx	Phase_I	Q86YD5	LRAD3_HUMAN			4	728	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	231					B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.691G>A	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569277	0.65765	0.0	1.16E-4	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.94576	-3.46;-3.39;-3.21	5.07	5.07	0.68467	.	0.169547	0.40469	N	0.001100	D	0.92374	0.7580	L	0.32530	0.975	0.35106	D	0.76572	D;P;P	0.58268	0.982;0.83;0.83	P;B;B	0.47864	0.559;0.124;0.124	D	0.93002	0.6424	10	0.23302	T	0.38	.	18.4625	0.90745	0.0:0.0:1.0:0.0	.	221;182;231	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	I	182;221;231	ENSP00000433954:V182I;ENSP00000434313:V221I;ENSP00000318607:V231I	ENSP00000318607:V231I	V	+	1	0	LDLRAD3	36205447	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.779000	0.75057	2.359000	0.80004	0.655000	0.94253	GTC		0.632	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		27	56	0	0	0	1	0	27	56					A	36248871	G	A	36248871	3	1	238	1	0	0	0	0	1	0	0	0	8707	1145	40	1	709	1	LDLRAD3	11	36248871	Missense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08		36248871	98757645	11	4243											
BCAT1	586	broad.mit.edu	37	12	24985718	24985719	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr12:24985718_24985719insTC	ENST00000261192.7	-	9	1508_1509	c.982_983insGA	c.(982-984)atgfs	p.M328fs	BCAT1_ENST00000539780.1_Frame_Shift_Ins_p.M291fs|BCAT1_ENST00000538118.1_Frame_Shift_Ins_p.M327fs|BCAT1_ENST00000539282.1_Frame_Shift_Ins_p.M340fs|BCAT1_ENST00000342945.5_Frame_Shift_Ins_p.M267fs|BCAT1_ENST00000544418.1_5'Flank|RP11-625L16.3_ENST00000545410.1_RNA	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	328					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	AGAGCCAAACATCTCTCTCACT	0.431																																						uc010six.2																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1018-1020)atgfs		Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 4, mRNA.	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	586				G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24985718_24985719insTC		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"branched chain aminotransferase 1, cytosolic"	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.981_982dupGA	12.37:g.24985725_24985726dupTC	ENSP00000261192:p.Met328fs		Somatic				BCAT1_uc001rgc.3_Frame_Shift_Ins_p.M327fs|BCAT1_uc001rgd.4_Frame_Shift_Ins_p.M328fs|BCAT1_uc010siy.2_Frame_Shift_Ins_p.M291fs|BCAT1_uc001rge.4_Frame_Shift_Ins_p.M267fs	p.M340fs	NM_001178093	NP_001171564	WXS	Illumina GAIIx	Phase_I	P54687	BCAT1_HUMAN			8	1105_1106	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		328					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Frame_Shift_Ins	INS	ENST00000261192.7	37	c.1018_1019insGA	CCDS44845.1																																																																																				0.431	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		9	7						9	7	---	---	---	---	TC	24985719	-	TC	24985718	7	5	238	1	0	1	1	0	0	0	0	0	1354	217	8	0	189	0	BCAT1	12	24985718	Frame_Shift_Ins	INS	-	TCGA-EM-A22J-01A-11D-A17V-08		24985718	108866177	12	4244											
FNDC3A	22862	broad.mit.edu	37	13	49772502	49772502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:49772502C>T	ENST00000492622.2	+	23	3084	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.R871*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.R927*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	927	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACTTAGAATACGAATTCAAGC	0.368																																						uc001vcm.3																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2779-2781)Cga>Tga		Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.							88	86	87					13																	49772502		2203	4300	6503	SO:0001587	stop_gained	22862					Golgi membrane|integral to membrane		g.chr13:49772502C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2779C>T	13.37:g.49772502C>T	ENSP00000417257:p.Arg927*		Somatic				FNDC3A_uc001vcn.3_Nonsense_Mutation_p.R927*|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Nonsense_Mutation_p.R871*	p.R927*	NM_001079673	NP_001073141	WXS	Illumina GAIIx	Phase_I	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	3084	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	927			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Nonsense_Mutation	SNP	ENST00000492622.2	37	c.2779C>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	41	9.136227	0.99077	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	.	.	.	6.06	5.22	0.72569	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4588	15.9153	0.79512	0.1361:0.8639:0.0:0.0	.	.	.	.	X	927;863;927;871	.	ENSP00000338579:R863X	R	+	1	2	FNDC3A	48670503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.613000	0.54152	1.557000	0.49525	0.650000	0.86243	CGA		0.368	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		6	64	0	0	0	1	0	6	64					T	49772502	C	T	49772502	4	4	238	1	0	0	0	0	0	1	0	0	5969	528	19	1	2876	1	FNDC3A	13	49772502	Nonsense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08		49772502	65397376	13	4245											
ATP11A	23250	broad.mit.edu	37	13	113487317	113487317	+	Silent	SNP	G	G	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr13:113487317G>C	ENST00000487903.1	+	14	1627	c.1539G>C	c.(1537-1539)gcG>gcC	p.A513A	ATP11A_ENST00000283558.8_Silent_p.A513A|ATP11A_ENST00000375645.3_Silent_p.A513A|ATP11A_ENST00000375630.2_Silent_p.A513A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	513					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGAGGTGGCGCTGGTCGAAG	0.627																																						uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1537-1539)gcG>gcC		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							116	125	122					13																	113487317		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113487317G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1539G>C	13.37:g.113487317G>C			Somatic				ATP11A_uc001vsi.4_Silent_p.A513A|ATP11A_uc001vsm.1_Silent_p.A389A	p.A513A	NM_032189	NP_115565	WXS	Illumina GAIIx	Phase_I	P98196	AT11A_HUMAN			13	1627	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	513					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.1539G>C	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330365	0.24167	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.71	-9.43	0.00607	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	0.7248	0.00947	0.2505:0.1769:0.3208:0.2518	.	.	.	.	P	488	.	.	R	+	2	0	ATP11A	112535318	0.000000	0.05858	0.037000	0.18230	0.958000	0.62258	-1.949000	0.01532	-1.991000	0.00976	0.561000	0.74099	CGC		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		18	180	0	0	0	1	0	18	180					C	113487317	G	C	113487317	2	2	238	1	0	0	0	0	0	0	0	1	1119	1074	38	4		4	ATP11A	13	113487317	Silent	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08	63714815	113487317	1682561	14	4246											
IL16	3603	broad.mit.edu	37	15	81517814	81517814	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr15:81517814T>C	ENST00000302987.4	+	1	74	c.74T>C	c.(73-75)cTc>cCc	p.L25P	IL16_ENST00000394660.2_Missense_Mutation_p.L25P			Q14005	IL16_HUMAN	interleukin 16	25					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCCTGATGCTCTGTAATGCT	0.498																																						uc010unp.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(199-201)cTc>cCc		Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.							81	82	82					15																	81517814		2009	4187	6196	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517814T>C	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.74T>C	15.37:g.81517814T>C	ENSP00000302935:p.Leu25Pro		Somatic				IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Missense_Mutation_p.L25P|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc021ssg.1_Missense_Mutation_p.L25P|IL16_uc002bgg.3_Missense_Mutation_p.L25P|IL16_uc021ssh.1_Missense_Mutation_p.L25P	p.L67P	NM_172217	NP_001165599	WXS	Illumina GAIIx	Phase_I	Q14005	IL16_HUMAN			1	226	+			25					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.200T>C	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241631	0.39598	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.21361	2.02;2.01	4.18	4.18	0.49190	.	0.000000	0.34777	N	0.003698	T	0.44829	0.1312	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.48043	-0.9069	10	0.87932	D	0	.	13.4093	0.60933	0.0:0.0:0.0:1.0	.	25;25	Q14005;Q14005-2	IL16_HUMAN;.	P	25;67;25;25	ENSP00000378155:L25P;ENSP00000302935:L25P	ENSP00000302935:L25P	L	+	2	0	IL16	79304869	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	5.190000	0.65104	1.751000	0.51876	0.460000	0.39030	CTC		0.498	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		15	25	0	0	0	1	0	15	25					C	81517814	T	C	81517814	3	2	238	1	0	0	0	0	1	0	0	0	7633	1551	54	3	76	3	IL16	15	81517814	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		81517814	21013578	15	4247											
SLC35B1	10237	broad.mit.edu	37	17	47780295	47780295	+	Missense_Mutation	SNP	T	T	C	rs80203972	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr17:47780295T>C	ENST00000240333.6	-	8	962	c.841A>G	c.(841-843)Att>Gtt	p.I281V	SLC35B1_ENST00000415270.2_Missense_Mutation_p.I318V			P78383	S35B1_HUMAN	solute carrier family 35, member B1	281					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GAGGCCAAAATTGTGAAGAAC	0.493													.|||	3	0.000599042	0.0023	0	5008	,	,		16249	0		0	False		,,,				2504	0					uc002iph.1																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(841-843)Att>Gtt		Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.		T	VAL/ILE	3,4403	6.2+/-15.9	0,3,2200	143	136	138		841	5.2	1.0	17	dbSNP_131	138	0,8600		0,0,4300	yes	missense	SLC35B1	NM_005827.1	29	0,3,6500	CC,CT,TT		0.0,0.0681,0.0231	benign	281/323	47780295	3,13003	2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780295T>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.841A>G	17.37:g.47780295T>C	ENSP00000240333:p.Ile281Val		Somatic				SLC35B1_uc002ipj.1_Missense_Mutation_p.I157V	p.I281V	NM_005827	NP_005818	WXS	Illumina GAIIx	Phase_I	P78383	S35B1_HUMAN			7	928	-			281					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.841A>G	CCDS11552.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	12.19	1.862744	0.32884	6.81E-4	0.0	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.35048	1.33;1.33;1.33	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	N	0.25286	0.73	0.80722	D	1	B;B	0.22146	0.065;0.065	B;B	0.34180	0.177;0.139	T	0.09751	-1.0660	10	0.23891	T	0.37	2.4688	14.8245	0.70101	0.0:0.0:0.0:1.0	.	214;281	D3DTX1;P78383	.;S35B1_HUMAN	V	281;318;157;157;214	ENSP00000240333:I281V;ENSP00000409548:I318V;ENSP00000423323:I214V	ENSP00000240333:I281V	I	-	1	0	SLC35B1	45135294	1.000000	0.71417	0.978000	0.43139	0.962000	0.63368	7.645000	0.83430	2.153000	0.67306	0.533000	0.62120	ATT		0.493	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		17	68	0	0	0	1	0	17	68					C	47780295	T	C	47780295	3	2	238	1	0	0	0	0	1	0	0	0	14575	1493	52	3	135	3	SLC35B1	17	47780295	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		47780295	33414915	16	4248											
KIAA0892	23383	broad.mit.edu	37	19	19446536	19446536	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:19446536T>C	ENST00000392313.6	+	2	465	c.286T>C	c.(286-288)Tca>Cca	p.S96P	MAU2_ENST00000586189.3_3'UTR|MAU2_ENST00000262815.8_Intron	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	96	Sufficient for interaction with NIPBL.				maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTGGTTGATATCACAGCAAGT	0.438																																						uc002nmk.4																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(286-288)Tca>Cca		Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.							155	159	158					19																	19446536		1892	4114	6006	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding	g.chr19:19446536T>C	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.286T>C	19.37:g.19446536T>C	ENSP00000376127:p.Ser96Pro		Somatic					p.S96P	NM_015329	NP_056144	WXS	Illumina GAIIx	Phase_I	Q9Y6X3	SCC4_HUMAN			1	325	+			96			Sufficient for interaction with NIPBL.		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.286T>C	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257411	0.59321	.	.	ENSG00000129933	ENST00000392313	T	0.76060	-0.99	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);	0.430942	0.23485	N	0.047663	T	0.67599	0.2910	L	0.41027	1.25	0.80722	D	1	B	0.24043	0.096	B	0.28553	0.091	T	0.63193	-0.6692	10	0.28530	T	0.3	.	14.3953	0.67007	0.0:0.0:0.0:1.0	.	96	Q9Y6X3	SCC4_HUMAN	P	96	ENSP00000376127:S96P	ENSP00000376127:S96P	S	+	1	0	MAU2	19307536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.992000	0.76238	2.090000	0.63153	0.533000	0.62120	TCA		0.438	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		24	68	0	0	0	1	0	24	68					C	19446536	T	C	19446536	3	2	238	1	0	0	0	0	1	0	0	0	8196	1435	50	3	292	3	KIAA0892	19	19446536	Missense_Mutation	SNP	T	TCGA-EM-A22J-01A-11D-A17V-08		19446536	39682447	17	4249											
LILRA2	11027	broad.mit.edu	37	19	55085362	55085362	+	Missense_Mutation	SNP	C	C	T	rs145704089	byFrequency	TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:55085362C>T	ENST00000251377.3	+	2	150	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M|LILRB1_ENST00000396321.2_Missense_Mutation_p.T6M|LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	6					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)			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)		CCCATCCTCACGGTCCTGATC	0.602													c|||	2	0.000399361	0	0	5008	,	,		18820	0.001		0.001	False		,,,				2504	0					uc010ern.3																			0				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.(16-18)aCg>aTg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.		C	MET/THR,MET/THR	3,4403	6.2+/-15.9	0,3,2200	139	116	124		17,17	0.1	0.0	19	dbSNP_134	124	6,8594	5.0+/-18.6	0,6,4294	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	81,81	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	,	6/484,6/467	55085362	9,12997	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55085362C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.17C>T	19.37:g.55085362C>T	ENSP00000251377:p.Thr6Met		Somatic				LILRA1_uc002qgg.4_Missense_Mutation_p.T6M|LILRA1_uc002qgf.3_Missense_Mutation_p.T6M|LILRA1_uc010yfe.1_Missense_Mutation_p.T6M|LILRA1_uc010yff.1_Missense_Mutation_p.T6M|LILRA1_uc010ero.3_Missense_Mutation_p.T6M|LILRA1_uc010yfg.1_Missense_Mutation_p.T6M	p.T6M			WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	1	486	+			6					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.17C>T	CCDS46179.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.448	0.082908	0.08533	6.81E-4	6.98E-4	ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000104972;ENSG00000104972;ENSG00000104972	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737;ENST00000396321;ENST00000418536;ENST00000448689	T;T;T;T;T;T;T;T	0.00524	6.99;6.88;6.88;6.82;6.85;6.97;6.97;6.84	2.69	0.13	0.14746	.	1.627630	0.03783	N	0.261658	T	0.00524	0.0017	L	0.47016	1.485	0.09310	N	1	B;B;B;B;B	0.26195	0.144;0.057;0.072;0.036;0.029	B;B;B;B;B	0.31191	0.125;0.04;0.011;0.011;0.024	T	0.47302	-0.9128	10	0.28530	T	0.3	.	5.0209	0.14361	0.0:0.6733:0.0:0.3267	.	6;6;6;6;6	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	M	6	ENSP00000388131:T6M;ENSP00000251377:T6M;ENSP00000375618:T6M;ENSP00000251376:T6M;ENSP00000375617:T6M;ENSP00000379614:T6M;ENSP00000391514:T6M;ENSP00000409968:T6M	ENSP00000251376:T6M	T	+	2	0	LILRB1;LILRA2	59777174	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.303000	0.00519	0.003000	0.14656	0.508000	0.49915	ACG		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			28	83	0	0	0	1	0	28	83					T	55085362	C	T	55085362	3	4	238	1	0	0	0	0	1	0	0	0	8785	536	19	1	19	1	LILRA2	19	55085362	Missense_Mutation	SNP	C	TCGA-EM-A22J-01A-11D-A17V-08	35638826	55085362	4043621	18	4250											
NLRP4	147945	broad.mit.edu	37	19	56373368	56373368	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr19:56373368G>A	ENST00000301295.6	+	5	2451	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	NLRP4_ENST00000346986.5_Missense_Mutation_p.V677I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V602I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	677					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)		AATAAATAACGTTTCCTTTTC	0.423																																						uc002qmd.4																			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.(2029-2031)Gtt>Att		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							139	138	139					19																	56373368		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56373368G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2029G>A	19.37:g.56373368G>A	ENSP00000301295:p.Val677Ile		Somatic				NLRP4_uc002qmf.3_Missense_Mutation_p.V602I|NLRP4_uc010etf.3_Missense_Mutation_p.V508I	p.V677I	NM_134444	NP_604393	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2451	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	677					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2029G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631309	0.28978	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52526	0.66;0.66	3.26	1.06	0.20224	.	.	.	.	.	T	0.52565	0.1742	L	0.46157	1.445	0.09310	N	1	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.87578	0.68;0.998;0.996	T	0.39014	-0.9634	9	0.23302	T	0.38	.	3.9261	0.09263	0.1273:0.0:0.6379:0.2348	.	677;602;677	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	I	677	ENSP00000301295:V677I;ENSP00000344787:V677I	ENSP00000301295:V677I	V	+	1	0	NLRP4	61065180	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.448000	0.21726	0.375000	0.24679	-0.311000	0.09066	GTT		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		33	63	0	0	0	1	0	33	63					A	56373368	G	A	56373368	3	1	238	1	0	0	0	0	1	0	0	0	10479	1145	40	1	2043	1	NLRP4	19	56373368	Missense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08	1288006	56373368	2755615	19	4251											
DIDO1	11083	broad.mit.edu	37	20	61524262	61524262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A22J-01A-11D-A17V-08	TCGA-EM-A22J-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ff7369-a4f6-413f-9543-6a17cf47a6fd	e8741687-a6ba-46e2-80d3-37d5de7b5bbd	g.chr20:61524262G>A	ENST00000266070.4	-	13	3479	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R1052*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1052					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)	p.R1052*(1)		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)					GTGCTGAGTCGAGACAAAAAG	0.423																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			1	Substitution - Nonsense(1)	p.R1052*(2)	large_intestine(1)	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.(3154-3156)Cga>Tga		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.							117	105	109					20																	61524262		2203	4300	6503	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61524262G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3154C>T	20.37:g.61524262G>A	ENSP00000266070:p.Arg1052*		Somatic				DIDO1_uc002yds.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydt.2_Nonsense_Mutation_p.R1052*|DIDO1_uc002ydu.2_Nonsense_Mutation_p.R1052*	p.R1052*	NM_001193369	NP_149072	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			12	3466	-	Breast(26;5.68e-08)		1052					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.3154C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	45	11.559260	0.99576	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	.	.	.	5.88	4.94	0.65067	.	0.000000	0.36519	U	0.002550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5963	15.002	0.71479	0.0681:0.0:0.9319:0.0	.	.	.	.	X	1052	.	ENSP00000266070:R1052X	R	-	1	2	DIDO1	60994707	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.587000	0.53957	1.504000	0.48704	-0.229000	0.12294	CGA		0.423	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		15	41	0	0	0	1	0	15	41					A	61524262	G	A	61524262	4	1	238	1	0	0	0	0	0	1	0	0	4522	1066	37	1	3613	1	DIDO1	20	61524262	Nonsense_Mutation	SNP	G	TCGA-EM-A22J-01A-11D-A17V-08		61524262	1501258	20	4252											
NOTCH2	4853	broad.mit.edu	37	1	120461954	120461954	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr1:120461954T>G	ENST00000256646.2	-	31	5981	c.5762A>C	c.(5761-5763)gAt>gCt	p.D1921A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1921					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)			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)		ACCTTGGGCATCAGCTGCCAC	0.468			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				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.(5761-5763)gAt>gCt		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							59	56	57					1																	120461954		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120461954T>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5762A>C	1.37:g.120461954T>G	ENSP00000256646:p.Asp1921Ala		Somatic					p.D1921A	NM_024408	NP_077719	WXS	Illumina GAIIx	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	30	6059	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1921					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5762A>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467431	0.84533	.	.	ENSG00000134250	ENST00000256646	T	0.53857	0.6	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.38897	U	0.001523	T	0.51483	0.1677	N	0.25201	0.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61262	-0.7098	10	0.87932	D	0	.	15.0356	0.71744	0.0:0.0:0.0:1.0	.	1921	Q04721	NOTC2_HUMAN	A	1921	ENSP00000256646:D1921A	ENSP00000256646:D1921A	D	-	2	0	NOTCH2	120263477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.160000	0.67779	0.533000	0.62120	GAT		0.468	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	83	0	0	0	1	0	3	83					G	120461954	T	G	120461954	3	3	239	1	0	0	0	0	1	0	0	0	10548	1435	50	5	1669	5	NOTCH2	1	120461954	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		120461954	128788667	1	4253											
CCDC150	284992	broad.mit.edu	37	2	197521549	197521549	+	Silent	SNP	T	T	A	rs200786144		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:197521549T>A	ENST00000389175.4	+	3	504	c.369T>A	c.(367-369)acT>acA	p.T123T	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Silent_p.T20T	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	123										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTGCAAACTGAAAAGGATT	0.388																																						uc002utp.1																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(367-369)acT>acA		Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.							88	87	87					2																	197521549		1872	4106	5978	SO:0001819	synonymous_variant	284992							g.chr2:197521549T>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.369T>A	2.37:g.197521549T>A			Somatic				CCDC150_uc002uto.1_Silent_p.T123T|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.T123T	NM_001080539	NP_001074008	WXS	Illumina GAIIx	Phase_I	Q8NCX0	CC150_HUMAN			2	504	+			123					Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.369T>A	CCDS46478.1																																																																																				0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		4	46	0	0	0	1	0	4	46					A	197521549	T	A	197521549	2	1	239	1	0	0	0	0	0	0	0	1	2785	1567	55	5		5	CCDC150	2	197521549	Silent	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		197521549	45677824	2	4254											
COL4A4	1286	broad.mit.edu	37	2	227979396	227979396	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:227979396T>C	ENST00000396625.3	-	8	713	c.506A>G	c.(505-507)aAg>aGg	p.K169R	COL4A4_ENST00000329662.7_Missense_Mutation_p.K169R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	169	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTTCTCCCTTTTCCCCAGG	0.299																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(505-507)aAg>aGg		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							111	100	103					2																	227979396		1806	4074	5880	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227979396T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.506A>G	2.37:g.227979396T>C	ENSP00000379866:p.Lys169Arg		Somatic				COL4A4_uc021vxs.1_Missense_Mutation_p.K169R	p.K169R	NM_000092	NP_000083	WXS	Illumina GAIIx	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	6	607	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	169			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.506A>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095251	0.36952	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94232	-3.38;-3.22	5.51	-1.39	0.08997	.	.	.	.	.	D	0.89276	0.6669	M	0.67700	2.07	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.75216	-0.3396	9	0.27082	T	0.32	.	5.1502	0.15005	0.124:0.294:0.0:0.582	.	169	P53420	CO4A4_HUMAN	R	169	ENSP00000379866:K169R;ENSP00000328553:K169R	ENSP00000328553:K169R	K	-	2	0	COL4A4	227687640	0.131000	0.22433	0.000000	0.03702	0.987000	0.75469	0.259000	0.18405	-0.386000	0.07821	0.533000	0.62120	AAG		0.299	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		3	55	0	0	0	1	0	3	55					C	227979396	T	C	227979396	3	2	239	1	0	0	0	0	1	0	0	0	3693	1609	56	3	4730	3	COL4A4	2	227979396	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08	30457847	227979396	15219977	3	4255											
MYRIP	25924	broad.mit.edu	37	3	40223732	40223732	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr3:40223732A>G	ENST00000302541.6	+	9	1237	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	MYRIP_ENST00000444716.1_Missense_Mutation_p.I299V|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.I112V|MYRIP_ENST00000396217.3_Missense_Mutation_p.I210V|MYRIP_ENST00000425621.1_Missense_Mutation_p.I299V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	299	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGCCTTCTCAATCACTGGAGA	0.592																																						uc003cka.3																			0		p.I299I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(895-897)Atc>Gtc		Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.							87	93	91					3																	40223732		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40223732A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.895A>G	3.37:g.40223732A>G	ENSP00000301972:p.Ile299Val		Somatic				MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.I299V|MYRIP_uc010hhw.3_Missense_Mutation_p.I210V|MYRIP_uc011ayz.2_Missense_Mutation_p.I112V|FLJ33065_uc003ckb.3_Intron	p.I299V	NM_015460	NP_056275	WXS	Illumina GAIIx	Phase_I	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	8	1030	+			299			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.895A>G	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.534980	0.45073	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	0.92	0.19397	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.458062	0.21428	N	0.074713	T	0.07369	0.0186	N	0.08118	0	0.18873	N	0.999981	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.30327	-0.9982	9	.	.	.	.	2.1049	0.03688	0.2362:0.3865:0.2648:0.1125	.	210;299;299	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	V	299;299;299;210;112	ENSP00000398665:I299V;ENSP00000301972:I299V;ENSP00000389323:I299V;ENSP00000379519:I210V;ENSP00000438297:I112V	.	I	+	1	0	MYRIP	40198736	0.869000	0.29996	0.000000	0.03702	0.550000	0.35303	1.725000	0.38074	-0.143000	0.11334	-0.274000	0.10170	ATC		0.592	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		4	128	0	0	0	1	0	4	128					G	40223732	A	G	40223732	3	3	239	1	0	0	0	0	1	0	0	0	10100	101	4	3	925	3	MYRIP	3	40223732	Missense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		40223732	157798698	4	4256											
ANTXR2	118429	broad.mit.edu	37	4	80992749	80992749	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr4:80992749T>C	ENST00000307333.7	-	2	214	c.212A>G	c.(211-213)gAg>gGg	p.E71G	ANTXR2_ENST00000404191.1_5'UTR|ANTXR2_ENST00000346652.6_Missense_Mutation_p.E71G|ANTXR2_ENST00000295465.4_Missense_Mutation_p.E71G|ANTXR2_ENST00000403729.2_Missense_Mutation_p.E71G	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	71	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CACAAATCTCTCCGCAAGTTG	0.368									Juvenile Hyaline Fibromatosis																													uc003hlz.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(211-213)gAg>gGg		Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.							89	88	89					4																	80992749		1832	4092	5924	SO:0001583	missense	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80992749T>C	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.212A>G	4.37:g.80992749T>C	ENSP00000306185:p.Glu71Gly		Somatic				ANTXR2_uc003hly.4_Missense_Mutation_p.E71G|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.E71G	p.E71G	NM_001145794	NP_001139266	WXS	Illumina GAIIx	Phase_I	P58335	ANTR2_HUMAN			1	975	-			71			VWFA.		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	c.212A>G	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	t	9.987	1.229729	0.22542	.	.	ENSG00000163297	ENST00000403729;ENST00000346652;ENST00000307333;ENST00000295465	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.61	4.4	0.53042	von Willebrand factor, type A (3);	0.266366	0.41823	D	0.000805	T	0.73385	0.3580	L	0.28192	0.835	0.43439	D	0.995618	B;B;B	0.30937	0.301;0.017;0.008	B;B;B	0.26864	0.074;0.013;0.005	T	0.66634	-0.5874	10	0.25751	T	0.34	-6.9592	9.7388	0.40404	0.1546:0.0:0.0:0.8454	.	71;71;71	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	G	71	ENSP00000385575:E71G;ENSP00000314883:E71G;ENSP00000306185:E71G;ENSP00000295465:E71G	ENSP00000295465:E71G	E	-	2	0	ANTXR2	81211773	0.977000	0.34250	0.942000	0.38095	0.389000	0.30415	3.952000	0.56691	0.921000	0.36994	0.460000	0.39030	GAG		0.368	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		26	26	0	0	0	1	0	26	26					C	80992749	T	C	80992749	3	2	239	1	0	0	0	0	1	0	0	0	712	1551	54	3	1360	3	ANTXR2	4	80992749	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08		80992749	110161527	5	4257											
ZNF322A	79692	broad.mit.edu	37	6	26638435	26638435	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr6:26638435C>G	ENST00000415922.2	-	4	992	c.347G>C	c.(346-348)gGa>gCa	p.G116A	ZNF322_ENST00000471278.1_Missense_Mutation_p.G116A|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTCTGATGTCCTGAAAGCGC	0.413																																						uc021ynx.1																			0											c.(346-348)gGa>gCa		Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 1, mRNA.							162	162	162					6																	26638435		2201	4298	6499	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26638435C>G	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"Zinc fingers, C2H2-type"	23640	protein-coding gene	gene with protein product		610847	"zinc finger protein 489", "HLA complex group 12", "zinc finger protein 322A"	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.347G>C	6.37:g.26638435C>G	ENSP00000418897:p.Gly116Ala		Somatic				ZNF322_uc003nij.3_5'Flank|ZNF322_uc003nil.4_Missense_Mutation_p.G116A|ZNF322_uc021yny.1_Missense_Mutation_p.G116A|ZNF322_uc021ynz.1_Missense_Mutation_p.G116A|ZNF322_uc021yoa.1_Missense_Mutation_p.G116A	p.G116A	NM_001242797	NP_001229726	WXS	Illumina GAIIx	Phase_I	Q6U7Q0	Z322A_HUMAN			4	1068	-			116					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.347G>C	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	c	6.323	0.427748	0.11987	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.16597	2.33;2.33	5.03	4.16	0.48862	.	0.000000	0.38548	N	0.001649	T	0.01421	0.0046	N	0.00966	-1.09	0.28073	N	0.932495	P	0.38978	0.652	B	0.37780	0.258	T	0.32079	-0.9920	10	0.08837	T	0.75	-14.6223	6.9099	0.24329	0.0:0.8188:0.0:0.1812	.	116	Q6U7Q0	ZN322_HUMAN	A	116	ENSP00000418897:G116A;ENSP00000419728:G116A	ENSP00000418897:G116A	G	-	2	0	ZNF322	26746414	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-3.382000	0.00490	2.776000	0.95493	0.655000	0.94253	GGA		0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		3	126	0	0	0	1	0	3	126					G	26638435	C	G	26638435	3	3	239	1	0	0	0	0	1	0	0	0	17838	855	30	4	865	4	ZNF322A	6	26638435	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		26638435	144476632	6	4258											
TIAM2	26230	broad.mit.edu	37	6	155458519	155458519	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr6:155458519T>A	ENST00000461783.3	+	7	2676	c.1403T>A	c.(1402-1404)aTg>aAg	p.M468K	TIAM2_ENST00000529824.2_Missense_Mutation_p.M468K|TIAM2_ENST00000360366.4_Missense_Mutation_p.M468K|TIAM2_ENST00000456144.1_Missense_Mutation_p.M468K|TIAM2_ENST00000318981.5_Missense_Mutation_p.M468K|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	468					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|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)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGTTGGAAATGAGCAGGACC	0.493																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1402-1404)aTg>aAg		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							106	114	111					6																	155458519		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	g.chr6:155458519T>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1403T>A	6.37:g.155458519T>A	ENSP00000437188:p.Met468Lys		Somatic				TIAM2_uc003qqe.3_Missense_Mutation_p.M468K|TIAM2_uc010kjj.3_Missense_Mutation_p.M1K	p.M468K	NM_012454	NP_036586	WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2676	+		Ovarian(120;0.196)	468					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1403T>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527491	0.44969	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.5;3.54;3.54;3.5	6.08	4.93	0.64822	.	0.181406	0.64402	D	0.000013	T	0.04363	0.0120	M	0.75264	2.295	0.80722	D	1	P;B	0.38767	0.646;0.363	B;B	0.30572	0.117;0.055	T	0.07177	-1.0786	10	0.87932	D	0	.	11.6879	0.51497	0.0:0.0683:0.0:0.9317	.	468;468	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	K	468;714;468;468;468;468;468	ENSP00000437188:M468K;ENSP00000434901:M468K;ENSP00000407746:M468K;ENSP00000327315:M468K;ENSP00000353528:M468K;ENSP00000433348:M468K	ENSP00000327315:M468K	M	+	2	0	TIAM2	155500211	1.000000	0.71417	0.991000	0.47740	0.475000	0.33008	3.717000	0.54911	2.333000	0.79357	0.533000	0.62120	ATG		0.493	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	171	0	0	0	1	0	6	171					A	155458519	T	A	155458519	3	1	239	1	0	0	0	0	1	0	0	0	15888	1464	51	5	1409	5	TIAM2	6	155458519	Missense_Mutation	SNP	T	TCGA-EM-A22K-01A-11D-A17V-08	128820084	155458519	15656548	7	4259											
XPNPEP1	7511	broad.mit.edu	37	10	111642324	111642324	+	Missense_Mutation	SNP	C	C	T	rs372041068		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr10:111642324C>T	ENST00000502935.1	-	10	1026	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E303K|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E189K|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E260K					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATCCTGTATTCGGCTTCCAGA	0.572																																						uc001kyp.2																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(907-909)Gaa>Aaa		Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	133	120	125		907,907	5.8	0.2	10		125	0,8600		0,0,4300	no	missense,missense	XPNPEP1	NM_001167604.1,NM_020383.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	303/643,303/667	111642324	1,13005	2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111642324C>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.907G>A	10.37:g.111642324C>T	ENSP00000421566:p.Glu303Lys		Somatic				XPNPEP1_uc009xxt.2_Missense_Mutation_p.E303K|XPNPEP1_uc001kyq.2_Missense_Mutation_p.E189K|XPNPEP1_uc010qrb.2_Missense_Mutation_p.E303K|XPNPEP1_uc010qra.1_Missense_Mutation_p.E27K	p.E303K	NM_020383	NP_065116	WXS	Illumina GAIIx	Phase_I	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	9	1027	-		Breast(234;0.174)	260						Missense_Mutation	SNP	ENST00000502935.1	37	c.907G>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373941	0.61735	2.27E-4	0.0	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.82	5.82	0.92795	.	0.095649	0.64402	D	0.000001	T	0.42471	0.1204	L	0.31120	0.905	0.58432	D	0.999999	P;B;B	0.35348	0.496;0.077;0.011	B;B;B	0.13407	0.009;0.005;0.001	T	0.32534	-0.9903	9	0.23891	T	0.37	-20.7264	18.2859	0.90114	0.0:1.0:0.0:0.0	.	303;303;260	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	K	303;189;303;260;260;228	.	ENSP00000324011:E303K	E	-	1	0	XPNPEP1	111632314	1.000000	0.71417	0.198000	0.23420	0.858000	0.48976	6.985000	0.76193	2.757000	0.94681	0.655000	0.94253	GAA		0.572	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			36	82	0	0	0	1	0	36	82					T	111642324	C	T	111642324	3	4	239	1	0	0	0	0	1	0	0	0	17439	893	31	1	1141	1	XPNPEP1	10	111642324	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		111642324	23892423	8	4260											
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61K	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	369	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		47	81	0	0	0	1	0	47	81					T	533875	G	T	533875	3	4	239	1	0	0	0	0	1	0	0	0	7348	1357	47	4	467	4	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		533875	134472641	9	4261											
AKAP11	11215	broad.mit.edu	37	13	42874704	42874704	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr13:42874704A>T	ENST00000025301.2	+	8	1997	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	608					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTTTCACTAAAAGAACGTGC	0.383																																						uc001uys.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(1822-1824)Aaa>Taa		Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.							82	78	79					13																	42874704		2203	4300	6503	SO:0001587	stop_gained	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874704A>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1822A>T	13.37:g.42874704A>T	ENSP00000025301:p.Lys608*		Somatic					p.K608*	NM_016248	NP_057332	WXS	Illumina GAIIx	Phase_I	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	7	1997	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	608					O75124|Q9NUK7	Nonsense_Mutation	SNP	ENST00000025301.2	37	c.1822A>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	39	7.598592	0.98381	.	.	ENSG00000023516	ENST00000025301	.	.	.	6.07	4.88	0.63580	.	0.111062	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.592	0.61966	0.8704:0.1296:0.0:0.0	.	.	.	.	X	608	.	ENSP00000025301:K608X	K	+	1	0	AKAP11	41772704	1.000000	0.71417	0.864000	0.33941	0.969000	0.65631	7.098000	0.76974	1.093000	0.41377	0.477000	0.44152	AAA		0.383	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		5	42	0	0	0	1	0	5	42					T	42874704	A	T	42874704	4	4	239	1	0	0	0	0	0	1	0	0	447	15	1	5	1844	5	AKAP11	13	42874704	Nonsense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		42874704	72295174	10	4262											
DLGAP5	9787	broad.mit.edu	37	14	55637441	55637441	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr14:55637441C>G	ENST00000247191.2	-	11	1582	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E456Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	456					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						ATGTCCAATTCAAGTTTCCTG	0.333																																						uc001xbs.3																			0				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						c.(1366-1368)Gaa>Caa		Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.							173	145	155					14																	55637441		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55637441C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1366G>C	14.37:g.55637441C>G	ENSP00000247191:p.Glu456Gln		Somatic				DLGAP5_uc001xbt.3_Missense_Mutation_p.E456Q	p.E456Q	NM_014750	NP_055565	WXS	Illumina GAIIx	Phase_I	Q15398	DLGP5_HUMAN			10	1583	-			456					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1366G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337639	0.41398	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.24538	1.85;1.85	5.4	3.48	0.39840	.	0.270105	0.40554	N	0.001068	T	0.34978	0.0916	M	0.74389	2.26	0.37008	D	0.895616	B;B	0.29162	0.235;0.132	B;B	0.38156	0.266;0.251	T	0.46978	-0.9152	10	0.66056	D	0.02	.	11.3611	0.49644	0.0:0.7733:0.1549:0.0717	.	456;456	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	456	ENSP00000378815:E456Q;ENSP00000247191:E456Q	ENSP00000247191:E456Q	E	-	1	0	DLGAP5	54707194	1.000000	0.71417	0.951000	0.38953	0.507000	0.33981	2.774000	0.47694	1.317000	0.45149	0.561000	0.74099	GAA		0.333	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		28	40	0	0	0	1	0	28	40					G	55637441	C	G	55637441	3	3	239	1	0	0	0	0	1	0	0	0	4563	835	29	4	1305	4	DLGAP5	14	55637441	Missense_Mutation	SNP	C	TCGA-EM-A22K-01A-11D-A17V-08		55637441	51712099	11	4263											
EIF2AK4	440275	broad.mit.edu	37	15	40308702	40308702	+	Splice_Site	SNP	G	G	A			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:40308702G>A	ENST00000263791.5	+	28	3802		c.e28-1		EIF2AK4_ENST00000382727.2_Splice_Site	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4						cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTGCTTTCCAGCTGTGTCGAC	0.473																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.e28-1		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							66	68	68					15																	40308702		2069	4220	6289	SO:0001630	splice_region_variant	440275				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40308702G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3760-1G>A	15.37:g.40308702G>A			Somatic				EIF2AK4_uc010bbj.1_Splice_Site_p.L955_splice|EIF2AK4_uc001zkn.1_Splice_Site_p.L354_splice|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_Splice_Site	p.L1254_splice	NM_001013703	NP_001013725	WXS	Illumina GAIIx	Phase_I	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	28	3810	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1254			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Splice_Site	SNP	ENST00000263791.5	37	c.3760_splice	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251288	0.80135	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8977	0.58109	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2AK4	38095994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.593000	0.82686	2.704000	0.92352	0.643000	0.83706	.		0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		Intron	3	49	0	0	0	1	0	3	49					A	40308702	G	A	40308702	5	1	239	1	0	0	0	0	0	0	1	0	4999	985	34	2	3869	2	EIF2AK4	15	40308702	Splice_Site	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		40308702	62222690	12	4264											
IGDCC4	57722	broad.mit.edu	37	15	65677333	65677333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:65677333G>A	ENST00000352385.2	-	19	3510	c.3301C>T	c.(3301-3303)Cag>Tag	p.Q1101*	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AACAGCGTCTGCCCAGTTCCA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aou.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3301-3303)Cag>Tag		Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.							52	63	59					15																	65677333		2196	4298	6494	SO:0001587	stop_gained	57722					integral to membrane|plasma membrane		g.chr15:65677333G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3301C>T	15.37:g.65677333G>A	ENSP00000319623:p.Gln1101*		Somatic	OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_uc002aot.1_Nonsense_Mutation_p.Q689*	p.Q1101*	NM_020962	NP_066013	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			18	3511	-			1101					Q9HCE4	Nonsense_Mutation	SNP	ENST00000352385.2	37	c.3301C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	43	10.402654	0.99398	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	.	.	.	5.23	5.23	0.72850	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-17.8646	15.9369	0.79717	0.0:0.0:1.0:0.0	.	.	.	.	X	1101;830	.	ENSP00000319623:Q1101X	Q	-	1	0	IGDCC4	63464386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.867000	0.56047	2.444000	0.82710	0.561000	0.74099	CAG		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	129	0	0	0	1	0	5	129					A	65677333	G	A	65677333	4	1	239	1	0	0	0	0	0	1	0	0	7569	1328	46	2	459	2	IGDCC4	15	65677333	Nonsense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08	25368631	65677333	36854059	13	4265											
NFAT5	10725	broad.mit.edu	37	16	69729160	69729160	+	Silent	SNP	A	A	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr16:69729160A>G	ENST00000354436.2	+	13	4800	c.4482A>G	c.(4480-4482)caA>caG	p.Q1494Q	NFAT5_ENST00000393742.2_Silent_p.Q1418Q|NFAT5_ENST00000432919.1_Silent_p.Q1512Q|NFAT5_ENST00000349945.1_Silent_p.Q1418Q|NFAT5_ENST00000566899.1_Silent_p.Q1418Q|NFAT5_ENST00000567239.1_Silent_p.Q1511Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1494					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTCTCAGCAAATGCCAGAGA	0.463																																						uc002exl.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(4534-4536)caA>caG		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							124	113	117					16																	69729160		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69729160A>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4482A>G	16.37:g.69729160A>G			Somatic				NFAT5_uc002exj.2_Silent_p.Q1418Q|NFAT5_uc002exk.2_Silent_p.Q1418Q|NFAT5_uc002exn.2_Silent_p.Q1511Q|NFAT5_uc002exm.2_Silent_p.Q1494Q|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Silent_p.Q1418Q	p.Q1512Q	NM_138713	NP_775322	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			13	4872	+			1494					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.4536A>G	CCDS10881.1																																																																																				0.463	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		14	72	0	0	0	1	0	14	72					G	69729160	A	G	69729160	2	3	239	1	0	0	0	0	0	0	0	1	10360	11	1	3		3	NFAT5	16	69729160	Silent	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		69729160	20625593	14	4266											
TMEM143	55260	broad.mit.edu	37	19	48863423	48863423	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr19:48863423G>C	ENST00000293261.3	-	3	591	c.275C>G	c.(274-276)tCg>tGg	p.S92W	TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000598012.1_5'Flank|TMEM143_ENST00000436660.2_Missense_Mutation_p.S92W	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	92					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGCCGGACTCGAGTGGAATTC	0.562																																						uc002pix.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(274-276)tCg>tGg		Homo sapiens transmembrane protein 143 (TMEM143), mRNA.							69	67	67					19																	48863423		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48863423G>C	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.275C>G	19.37:g.48863423G>C	ENSP00000293261:p.Ser92Trp		Somatic				TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Missense_Mutation_p.S92W|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_Intron|TMEM143_uc002piy.1_Intron|TMEM143_uc010xzp.1_Missense_Mutation_p.S92W|TMEM143_uc010xzq.1_Intron	p.S92W	NM_018273	NP_060743	WXS	Illumina GAIIx	Phase_I	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	2	284	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	92					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.275C>G	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997460	0.35226	.	.	ENSG00000161558	ENST00000293261;ENST00000436660	T	0.46451	0.87	4.87	3.77	0.43336	.	0.213192	0.32287	N	0.006310	T	0.45357	0.1338	N	0.19112	0.55	0.33610	D	0.603466	D;B	0.76494	0.999;0.323	D;B	0.68039	0.955;0.051	T	0.57997	-0.7714	10	0.62326	D	0.03	-25.4429	11.8196	0.52230	0.0:0.1775:0.8225:0.0	.	92;92	B4DPF8;Q96AN5	.;TM143_HUMAN	W	92	ENSP00000293261:S92W	ENSP00000293261:S92W	S	-	2	0	TMEM143	53555235	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	3.208000	0.51114	2.445000	0.82738	0.650000	0.86243	TCG		0.562	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		3	57	0	0	0	1	0	3	57					C	48863423	G	C	48863423	3	2	239	1	0	0	0	0	1	0	0	0	16054	1059	37	4	1128	4	TMEM143	19	48863423	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		48863423	10265560	15	4267											
C20orf103	24141	broad.mit.edu	37	20	9498782	9498782	+	Missense_Mutation	SNP	G	G	T	rs527594563		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr20:9498782G>T	ENST00000246070.2	+	5	1063	c.571G>T	c.(571-573)Gcc>Tcc	p.A191S	LAMP5_ENST00000427562.2_Missense_Mutation_p.A147S	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	191						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CATTTCACTGGCCTCTAGTGA	0.507																																						uc002wni.2																			0											c.(571-573)Gcc>Tcc		Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.							130	103	112					20																	9498782		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498782G>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"brain and dendritic cell associated LAMP"	614641	"chromosome 20 open reading frame 103"	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.571G>T	20.37:g.9498782G>T	ENSP00000246070:p.Ala191Ser		Somatic				LAMP5_uc010zrc.2_Missense_Mutation_p.A147S	p.A191S	NM_012261	NP_036393	WXS	Illumina GAIIx	Phase_I	Q9UJQ1	CT103_HUMAN			4	1066	+			191					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.571G>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514596	0.27123	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.25579	1.79;1.79	5.84	2.48	0.30137	.	0.432644	0.27946	N	0.017216	T	0.12135	0.0295	N	0.14661	0.345	0.26049	N	0.981504	B;B	0.15141	0.01;0.012	B;B	0.21917	0.022;0.037	T	0.23084	-1.0198	9	.	.	.	-5.9987	4.9837	0.14180	0.2737:0.3029:0.4234:0.0	.	147;191	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	S	191;147	ENSP00000246070:A191S;ENSP00000406360:A147S	.	A	+	1	0	C20orf103	9446782	0.966000	0.33281	0.962000	0.40283	0.712000	0.41017	1.784000	0.38674	0.801000	0.34066	0.655000	0.94253	GCC		0.507	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		24	44	0	0	0	1	0	24	44					T	9498782	G	T	9498782	3	4	239	1	0	0	0	0	1	0	0	0	2075	1203	42	4	589	4	C20orf103	20	9498782	Missense_Mutation	SNP	G	TCGA-EM-A22K-01A-11D-A17V-08		9498782	53526738	16	4268											
SCUBE1	80274	broad.mit.edu	37	22	43619190	43619190	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr22:43619190A>G	ENST00000360835.4	-	11	1366	c.1240T>C	c.(1240-1242)Tcc>Ccc	p.S414P		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	414					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCCGGGGGGAGGTCTTGGCG	0.647																																						uc003bdt.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1240-1242)Tcc>Ccc		Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.							80	88	85					22																	43619190		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43619190A>G		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1240T>C	22.37:g.43619190A>G	ENSP00000354080:p.Ser414Pro		Somatic					p.S414P	NM_173050	NP_766638	WXS	Illumina GAIIx	Phase_I	Q8IWY4	SCUB1_HUMAN			10	1367	-		all_neural(38;0.0414)|Ovarian(80;0.07)	414					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1240T>C	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	A	5.546	0.285600	0.10513	.	.	ENSG00000159307	ENST00000360835	D	0.85411	-1.98	5.14	1.49	0.22878	.	0.811742	0.11434	N	0.564530	T	0.67069	0.2854	N	0.12182	0.205	0.33766	D	0.6225	B	0.02656	0.0	B	0.06405	0.002	T	0.59747	-0.7396	10	0.23302	T	0.38	.	3.154	0.06498	0.36:0.4321:0.0884:0.1195	.	414	Q8IWY4	SCUB1_HUMAN	P	414	ENSP00000354080:S414P	ENSP00000354080:S414P	S	-	1	0	SCUBE1	41949134	0.747000	0.28283	0.001000	0.08648	0.016000	0.09150	0.495000	0.22483	0.369000	0.24510	0.459000	0.35465	TCC		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		4	108	0	0	0	1	0	4	108					G	43619190	A	G	43619190	3	3	239	1	0	0	0	0	1	0	0	0	13944	304	11	3	1774	3	SCUBE1	22	43619190	Missense_Mutation	SNP	A	TCGA-EM-A22K-01A-11D-A17V-08		43619190	7685376	17	4269											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		64	106	0	0	0	1	0	64	106					T	115256530	G	T	115256530	3	4	240	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		115256530	133994091	1	4270											
HMCN1	83872	broad.mit.edu	37	1	186122946	186122946	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr1:186122946T>C	ENST00000271588.4	+	97	15312	c.15083T>C	c.(15082-15084)tTc>tCc	p.F5028S	HMCN1_ENST00000367492.2_Missense_Mutation_p.F5028S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5028	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCCGGCTGTTCACCATTGAT	0.463																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(15082-15084)tTc>tCc		Homo sapiens hemicentin 1 (HMCN1), mRNA.							120	107	111					1																	186122946		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186122946T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15083T>C	1.37:g.186122946T>C	ENSP00000271588:p.Phe5028Ser		Somatic				MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.F597S	p.F5028S	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			96	15312	+			5028			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15083T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.587081	0.86851	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.28895	1.59;1.59	5.62	5.62	0.85841	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.78637	2.42	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.63129	-0.6706	10	0.87932	D	0	.	15.8388	0.78824	0.0:0.0:0.0:1.0	.	5028	Q96RW7	HMCN1_HUMAN	S	5028	ENSP00000271588:F5028S;ENSP00000356462:F5028S	ENSP00000271588:F5028S	F	+	2	0	HMCN1	184389569	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	6.128000	0.71650	2.129000	0.65627	0.533000	0.62120	TTC		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	35	0	0	0	1	0	17	35					C	186122946	T	C	186122946	3	2	240	1	0	0	0	0	1	0	0	0	7220	1783	62	3	15469	3	HMCN1	1	186122946	Missense_Mutation	SNP	T	TCGA-EM-A22L-01A-11D-A17V-08	70866416	186122946	63127675	2	4271											
PROS1	5627	broad.mit.edu	37	3	93624630	93624630	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:93624630T>A	ENST00000394236.3	-	6	915	c.599A>T	c.(598-600)aAa>aTa	p.K200I	PROS1_ENST00000407433.1_Missense_Mutation_p.K69I	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	200	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GCTCTTACCTTTACAATCTTT	0.303																																						uc003drb.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(598-600)aAa>aTa		Homo sapiens protein S (alpha) (PROS1), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						59	59	59					3																	93624630		2203	4297	6500	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93624630T>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.599A>T	3.37:g.93624630T>A	ENSP00000377783:p.Lys200Ile		Somatic				PROS1_uc010hoo.3_Missense_Mutation_p.K69I|PROS1_uc003dqz.4_Missense_Mutation_p.K69I	p.K200I	NM_000313	NP_000304	WXS	Illumina GAIIx	Phase_I	P07225	PROS_HUMAN			5	940	-			200			EGF-like 2; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.599A>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756760	0.31137	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.86497	-2.13;-2.13	4.44	-0.518	0.11943	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.521097	0.21124	N	0.079767	T	0.67306	0.2879	N	0.04148	-0.265	0.28488	N	0.914617	B	0.30482	0.281	B	0.24701	0.055	T	0.60100	-0.7329	10	0.31617	T	0.26	.	9.3	0.37840	0.0:0.4489:0.0:0.5511	.	200	P07225	PROS_HUMAN	I	200;69	ENSP00000377783:K200I;ENSP00000385794:K69I	ENSP00000377783:K200I	K	-	2	0	PROS1	95107320	0.836000	0.29430	0.999000	0.59377	0.435000	0.31806	-0.329000	0.07935	0.003000	0.14656	-0.425000	0.05940	AAA		0.303	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		18	32	0	0	0	1	0	18	32					A	93624630	T	A	93624630	3	1	240	1	0	0	0	0	1	0	0	0	12558	1841	64	5	1471	5	PROS1	3	93624630	Missense_Mutation	SNP	T	TCGA-EM-A22L-01A-11D-A17V-08		93624630	104397800	3	4272											
GPR87	53836	broad.mit.edu	37	3	151012084	151012084	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr3:151012084A>G	ENST00000260843.4	-	3	1414	c.950T>C	c.(949-951)aTg>aCg	p.M317T	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	317					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)			TGACCTACACATGAAAAAGTA	0.358																																						uc003eyt.2																			0		p.F316L(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(949-951)aTg>aCg		Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.							123	126	125					3																	151012084		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012084A>G	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.950T>C	3.37:g.151012084A>G	ENSP00000260843:p.Met317Thr		Somatic				MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	p.M317T	NM_023915	NP_076404	WXS	Illumina GAIIx	Phase_I	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		2	1311	-			317					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.950T>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419219	0.62622	.	.	ENSG00000138271	ENST00000260843	T	0.20332	2.08	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.10208	0.0250	N	0.08118	0	0.50171	D	0.999853	P	0.34546	0.456	B	0.27887	0.084	T	0.18023	-1.0350	10	0.44086	T	0.13	-23.2662	11.4026	0.49878	0.9269:0.0:0.0731:0.0	.	317	Q9BY21	GPR87_HUMAN	T	317	ENSP00000260843:M317T	ENSP00000260843:M317T	M	-	2	0	GPR87	152494774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.105000	0.77031	2.109000	0.64355	0.533000	0.62120	ATG		0.358	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			53	58	0	0	0	1	0	53	58					G	151012084	A	G	151012084	3	3	240	1	0	0	0	0	1	0	0	0	6716	217	8	3	130	3	GPR87	3	151012084	Missense_Mutation	SNP	A	TCGA-EM-A22L-01A-11D-A17V-08	57387454	151012084	47010346	4	4273											
ARID1B	57492	broad.mit.edu	37	6	157527496	157527496	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr6:157527496G>A	ENST00000350026.5	+	19	5183	c.5182G>A	c.(5182-5184)Gac>Aac	p.D1728N	ARID1B_ENST00000367148.1_Missense_Mutation_p.D1781N|ARID1B_ENST00000346085.5_Missense_Mutation_p.D1741N|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1723N	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1728					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)		TATTGATGACGACGAGGAAGA	0.537																																						uc003qqn.3																			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.(5341-5343)Gac>Aac		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							130	135	133					6																	157527496		2203	4296	6499	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.chr6:157527496G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5182G>A	6.37:g.157527496G>A	ENSP00000055163:p.Asp1728Asn		Somatic				ARID1B_uc003qqo.3_Missense_Mutation_p.D1741N|ARID1B_uc003qqp.3_Missense_Mutation_p.D1728N	p.D1781N	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5341	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1728					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5341G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	9.337	1.062114	0.19987	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02050	4.8;4.8;4.81;4.81;4.48	5.16	5.16	0.70880	Armadillo-like helical (1);	0.341002	0.21369	U	0.075671	T	0.00552	0.0018	N	0.08118	0	0.28409	N	0.918294	B;B;B	0.28378	0.133;0.209;0.209	B;B;B	0.24269	0.023;0.052;0.052	T	0.50118	-0.8865	10	0.17832	T	0.49	.	13.5352	0.61643	0.0:0.0:0.8043:0.1957	.	1728;1741;1723	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	N	1741;1728;1781;1723;1250	ENSP00000344546:D1741N;ENSP00000055163:D1728N;ENSP00000356116:D1781N;ENSP00000275248:D1723N;ENSP00000412835:D1250N	ENSP00000275248:D1723N	D	+	1	0	ARID1B	157569188	1.000000	0.71417	0.096000	0.21009	0.539000	0.34962	3.858000	0.55979	2.394000	0.81467	0.467000	0.42956	GAC		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		7	181	0	0	0	1	0	7	181					A	157527496	G	A	157527496	3	1	240	1	0	0	0	0	1	0	0	0	914	1058	37	1	5299	1	ARID1B	6	157527496	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		157527496	13587571	5	4274											
STAG3	10734	broad.mit.edu	37	7	99796515	99796515	+	Missense_Mutation	SNP	C	C	T	rs539912996		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr7:99796515C>T	ENST00000426455.1	+	14	1809	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R410C|STAG3_ENST00000317296.5_Missense_Mutation_p.R468C	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	468					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R468C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAGAGCAACGCCAGAGCCC	0.537													C|||	1	0.000199681	0	0	5008	,	,		16772	0		0.001	False		,,,				2504	0					uc003utx.1																			1	Substitution - Missense(1)	p.R468C(2)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1402-1404)Cgc>Tgc		Homo sapiens stromal antigen 3 (STAG3), mRNA.							114	114	114					7																	99796515		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99796515C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1402C>T	7.37:g.99796515C>T	ENSP00000400359:p.Arg468Cys		Somatic				STAG3_uc010lgs.1_Missense_Mutation_p.R256C|STAG3_uc011kjk.1_Missense_Mutation_p.R410C|STAG3_uc003uub.1_5'Flank	p.R468C	NM_012447	NP_036579	WXS	Illumina GAIIx	Phase_I	Q9UJ98	STAG3_HUMAN			13	1557	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		468					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1402C>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818867	0.32145	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.25749	1.78;1.8;1.78	5.75	4.87	0.63330	Armadillo-type fold (1);	1.147120	0.06612	N	0.755773	T	0.37598	0.1009	M	0.67397	2.05	0.09310	N	0.999999	D;B	0.65815	0.995;0.1	P;B	0.48677	0.586;0.042	T	0.24870	-1.0148	10	0.87932	D	0	-0.7305	7.782	0.29070	0.1609:0.7572:0.0:0.0819	.	410;468	B4DZ10;Q9UJ98	.;STAG3_HUMAN	C	468;410;426;468	ENSP00000400359:R468C;ENSP00000377586:R410C;ENSP00000319318:R468C	ENSP00000319318:R468C	R	+	1	0	STAG3	99634451	0.441000	0.25626	0.508000	0.27688	0.212000	0.24457	2.315000	0.43752	1.572000	0.49736	0.650000	0.86243	CGC		0.537	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		35	65	0	0	0	1	0	35	65					T	99796515	C	T	99796515	3	4	240	1	0	0	0	0	1	0	0	0	15243	536	19	1	1452	1	STAG3	7	99796515	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		99796515	59342148	6	4275											
OR5T2	219464	broad.mit.edu	37	11	56000018	56000018	+	Missense_Mutation	SNP	C	C	T	rs199817172		TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr11:56000018C>T	ENST00000313264.4	-	1	719	c.644G>A	c.(643-645)cGt>cAt	p.R215H		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACAAAAGACACGCCTAATTTC	0.433																																						uc010rjc.2																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(643-645)cGt>cAt		Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.							170	153	159					11																	56000018		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000018C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.644G>A	11.37:g.56000018C>T	ENSP00000323688:p.Arg215His		Somatic					p.R215H	NM_001004746	NP_001004746	WXS	Illumina GAIIx	Phase_I	Q8NGG2	OR5T2_HUMAN			0	644	-	Esophageal squamous(21;0.00448)		215					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.644G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.919518	0.00498	.	.	ENSG00000181718	ENST00000313264	T	0.00032	8.88	5.07	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.161250	0.28760	N	0.014224	T	0.00012	0.0000	N	0.00000	-3.915	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50684	-0.8799	10	0.02654	T	1	.	9.4138	0.38507	0.0:0.1492:0.0:0.8508	.	215	Q8NGG2	OR5T2_HUMAN	H	215	ENSP00000323688:R215H	ENSP00000323688:R215H	R	-	2	0	OR5T2	55756594	0.597000	0.26874	0.001000	0.08648	0.001000	0.01503	1.700000	0.37815	0.354000	0.24105	-0.491000	0.04670	CGT		0.433	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		7	112	0	0	0	1	0	7	112					T	56000018	C	T	56000018	3	4	240	1	0	0	0	0	1	0	0	0	11182	536	19	1	434	1	OR5T2	11	56000018	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		56000018	79006498	7	4276											
VWF	7450	broad.mit.edu	37	12	6105204	6105204	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr12:6105204G>T	ENST00000261405.5	-	35	6281	c.6027C>A	c.(6025-6027)caC>caA	p.H2009Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2009	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	AGAGGGCACTGTGCTTCACCT	0.522																																						uc001qnn.1																			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.(6025-6027)caC>caA		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						54	45	48					12																	6105204		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	g.chr12:6105204G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6027C>A	12.37:g.6105204G>T	ENSP00000261405:p.His2009Gln		Somatic				VWF_uc010set.1_Intron	p.H2009Q	NM_000552	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			34	6277	-			2009			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6027C>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	7.105	0.574863	0.13623	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	5.55	-7.19	0.01500	von Willebrand factor, type D domain (3);	0.000000	0.42294	D	0.000738	T	0.45756	0.1358	M	0.63843	1.955	0.42200	D	0.991767	B	0.28419	0.211	B	0.30029	0.11	T	0.12041	-1.0563	10	0.36615	T	0.2	.	10.8582	0.46810	0.4259:0.0943:0.4798:0.0	.	2009	P04275	VWF_HUMAN	Q	2009	ENSP00000261405:H2009Q	ENSP00000261405:H2009Q	H	-	3	2	VWF	5975465	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	-1.877000	0.01631	-1.305000	0.02327	-0.136000	0.14681	CAC		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		19	26	0	0	0	1	0	19	26					T	6105204	G	T	6105204	3	4	240	1	0	0	0	0	1	0	0	0	17243	1368	48	4	2486	4	VWF	12	6105204	Missense_Mutation	SNP	G	TCGA-EM-A22L-01A-11D-A17V-08		6105204	127746691	8	4277											
SCEL	8796	broad.mit.edu	37	13	78176241	78176241	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr13:78176241C>G	ENST00000349847.3	+	16	1043	c.959C>G	c.(958-960)aCt>aGt	p.T320S	SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Missense_Mutation_p.T300S|SCEL_ENST00000535157.1_Missense_Mutation_p.T298S|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	320	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AATCAAAGGACTGACAAAAAT	0.393																																						uc001vki.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(958-960)aCt>aGt		Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.							99	98	98					13																	78176241		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78176241C>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.959C>G	13.37:g.78176241C>G	ENSP00000302579:p.Thr320Ser		Somatic				SCEL_uc010thx.2_Missense_Mutation_p.T298S|SCEL_uc001vkj.3_Missense_Mutation_p.T300S	p.T320S	NM_144777	NP_659001	WXS	Illumina GAIIx	Phase_I	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	15	1129	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	320			16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.959C>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	7.116	0.576952	0.13686	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.22134	1.97;1.97;1.97	3.95	3.09	0.35607	.	0.915980	0.09168	N	0.839296	T	0.21062	0.0507	M	0.68593	2.085	0.09310	N	1	P;P;P	0.43662	0.459;0.814;0.649	B;B;B	0.39840	0.225;0.287;0.311	T	0.09618	-1.0666	10	0.07644	T	0.81	-0.5847	9.1287	0.36833	0.2168:0.7832:0.0:0.0	.	298;300;320	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	S	277;298;300;320	ENSP00000437895:T298S;ENSP00000366454:T300S;ENSP00000302579:T320S	ENSP00000315127:T277S	T	+	2	0	SCEL	77074242	0.002000	0.14202	0.027000	0.17364	0.005000	0.04900	0.173000	0.16724	0.997000	0.38969	0.591000	0.81541	ACT		0.393	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		7	29	0	0	0	1	0	7	29					G	78176241	C	G	78176241	3	3	240	1	0	0	0	0	1	0	0	0	13888	565	20	4	1017	4	SCEL	13	78176241	Missense_Mutation	SNP	C	TCGA-EM-A22L-01A-11D-A17V-08		78176241	36993637	9	4278											
PIGS	94005	broad.mit.edu	37	17	26882008	26882008	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22L-01A-11D-A17V-08	TCGA-EM-A22L-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d97ee252-2e59-49f9-bcdb-486493788808	4c38ef42-92bd-4077-a3b6-0d736fec72be	g.chr17:26882008A>G	ENST00000308360.7	-	11	1628	c.1253T>C	c.(1252-1254)cTa>cCa	p.L418P	PIGS_ENST00000395346.2_Missense_Mutation_p.L410P|UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000335765.4_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.L357P	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	418					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)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGGTCATTAGCCCTTCACT	0.587																																						uc002hbo.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1252-1254)cTa>cCa		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.							72	61	65					17																	26882008		2203	4300	6503	SO:0001583	missense	94005				C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	g.chr17:26882008A>G		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1253T>C	17.37:g.26882008A>G	ENSP00000309430:p.Leu418Pro		Somatic				UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.L410P|PIGS_uc010wap.1_Missense_Mutation_p.L357P	p.L418P	NM_033198	NP_149975	WXS	Illumina GAIIx	Phase_I	Q96S52	PIGS_HUMAN			10	1626	-	Lung NSC(42;0.00431)		418					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.1253T>C	CCDS11235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.381622|4.381622	0.82792|0.82792	.|.	.|.	ENSG00000087111|ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734|ENST00000268758	T;T;T|.	0.47528|.	0.84;0.84;0.84|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.072613|.	0.56097|.	D|.	0.000023|.	T|.	0.69061|.	0.3069|.	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.996|.	D;D|.	0.68353|.	0.957;0.929|.	T|.	0.67452|.	-0.5667|.	10|.	0.33141|.	T|.	0.24|.	-4.5671|-4.5671	15.4623|15.4623	0.75369|0.75369	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	418;410|.	Q96S52;Q96S52-2|.	PIGS_HUMAN;.|.	P|Q	410;418;357|160	ENSP00000378755:L410P;ENSP00000309430:L418P;ENSP00000438447:L357P|.	ENSP00000309430:L418P|.	L|X	-|-	2|1	0|0	PIGS|PIGS	23906135|23906135	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.954000|0.954000	0.61252|0.61252	8.962000|8.962000	0.93254|0.93254	2.053000|2.053000	0.61076|0.61076	0.379000|0.379000	0.24179|0.24179	CTA|TAA		0.587	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		3	54	0	0	0	1	0	3	54					G	26882008	A	G	26882008	3	3	240	1	0	0	0	0	1	0	0	0	11898	420	15	3	422	3	PIGS	17	26882008	Missense_Mutation	SNP	A	TCGA-EM-A22L-01A-11D-A17V-08		26882008	54313202	10	4279											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	40	0	0	0	1	0	13	40					T	140453136	A	T	140453136	3	4	241	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22M-01A-11D-A17V-08		140453136	18685527	1	4280											
OR10A7	121364	broad.mit.edu	37	12	55614871	55614871	+	Silent	SNP	C	C	T	rs369421690		TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr12:55614871C>T	ENST00000326258.1	+	1	63	c.63C>T	c.(61-63)ccC>ccT	p.P21P		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	21						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)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAAACAACCCCGAGATGCAAG	0.373																																						uc010spf.2																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(61-63)ccC>ccT		Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.		C		0,4406		0,0,2203	198	206	203		63	-3.0	0.0	12		203	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10A7	NM_001005280.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		21/317	55614871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55614871C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.63C>T	12.37:g.55614871C>T			Somatic					p.P21P	NM_001005280	NP_001005280	WXS	Illumina GAIIx	Phase_I	Q8NGE5	O10A7_HUMAN			0	63	+			21					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.63C>T	CCDS31815.1																																																																																				0.373	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			5	134	0	0	0	1	0	5	134					T	55614871	C	T	55614871	2	4	241	1	0	0	0	0	0	0	0	1	10895	639	23	1		1	OR10A7	12	55614871	Silent	SNP	C	TCGA-EM-A22M-01A-11D-A17V-08		55614871	78237024	2	4281											
WHAMM	123720	broad.mit.edu	37	15	83485581	83485581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr15:83485581delA	ENST00000286760.4	+	3	1020	c.921delA	c.(919-921)gtafs	p.V307fs		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	307	Mediates interaction with microtubules. {ECO:0000269|PubMed:23027905}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGGAGACAGTAAAAGCATTAG	0.363																																						uc002bje.3																			0				endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						c.(919-921)gtafs		Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.																																				SO:0001589	frameshift_variant	123720					ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding	g.chr15:83485581delA	AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.921delA	15.37:g.83485581delA	ENSP00000286760:p.Val307fs		Somatic					p.V307fs	NM_001080435	NP_001073904	WXS	Illumina GAIIx	Phase_I	Q8TF30	WHAMM_HUMAN			2	1427	+			307					Q8N1J9	Frame_Shift_Del	DEL	ENST00000286760.4	37	c.921delA	CCDS45333.1																																																																																				0.363	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418463.1			2	4						2	4	---	---	---	---	-	83485581	A	-	83485581	7	5	241	1	0	1	0	1	0	0	0	0	17358	349	13	0	931	0	WHAMM	15	83485581	Frame_Shift_Del	DEL	A	TCGA-EM-A22M-01A-11D-A17V-08		83485581	19045811	3	4282											
ZNF629	23361	broad.mit.edu	37	16	30795747	30795747	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A22M-01A-11D-A17V-08	TCGA-EM-A22M-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29f3295-8971-49b9-8398-b0e1f4912e2f	9f98823f-1528-433c-9aa7-cfdbb6732bd1	g.chr16:30795747delG	ENST00000262525.4	-	2	264	c.57delC	c.(55-57)cccfs	p.P19fs		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	19					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)			GAGCATCGTTGGGGCTCTGTT	0.687																																						uc002dzs.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(55-57)cccfs		Homo sapiens zinc finger protein 629 (ZNF629), mRNA.							24	26	26					16																	30795747		1890	4112	6002	SO:0001589	frameshift_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795747delG	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.57delC	16.37:g.30795747delG	ENSP00000262525:p.Pro19fs		Somatic					p.P19fs	NM_001080417	NP_001073886	WXS	Illumina GAIIx	Phase_I	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		1	265	-			19					Q15938	Frame_Shift_Del	DEL	ENST00000262525.4	37	c.57delC	CCDS45463.1																																																																																				0.687	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		2	4						2	4	---	---	---	---	-	30795747	G	-	30795747	7	5	241	1	0	1	0	1	0	0	0	0	18050	1335	47	0	2560	0	ZNF629	16	30795747	Frame_Shift_Del	DEL	G	TCGA-EM-A22M-01A-11D-A17V-08		30795747	59559006	4	4283											
TRIM46	80128	broad.mit.edu	37	1	155156425	155156425	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr1:155156425C>T	ENST00000334634.4	+	10	2039	c.2039C>T	c.(2038-2040)aCa>aTa	p.T680I	TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.T554I|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000368382.1_Missense_Mutation_p.T657I	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	680	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGGCCCCACAGCCGGCTGC	0.657																																						uc001fhs.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(2038-2040)aCa>aTa		Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.							70	70	70					1																	155156425		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155156425C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2039C>T	1.37:g.155156425C>T	ENSP00000334657:p.Thr680Ile		Somatic				TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.T554I|TRIM46_uc001fhu.1_Missense_Mutation_p.T657I|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	p.T680I	NM_025058	NP_079334	WXS	Illumina GAIIx	Phase_I	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	2122	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		680			B30.2/SPRY.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.2039C>T	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	6.068	0.380826	0.11466	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.63096	-0.02;-0.02;-0.02	4.19	3.2	0.36748	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.451130	0.21216	N	0.078227	T	0.13756	0.0333	N	0.02539	-0.55	0.09310	N	1	B	0.30511	0.282	B	0.20955	0.032	T	0.11542	-1.0583	10	0.20046	T	0.44	.	10.5003	0.44802	0.0:0.8021:0.1979:0.0	.	680	Q7Z4K8	TRI46_HUMAN	I	638;554;657;680	ENSP00000440254:T554I;ENSP00000357366:T657I;ENSP00000334657:T680I	ENSP00000334657:T680I	T	+	2	0	TRIM46	153423049	0.002000	0.14202	0.008000	0.14137	0.088000	0.18126	-0.270000	0.08584	2.065000	0.61736	0.313000	0.20887	ACA		0.657	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		14	41	0	0	0	1	0	14	41					T	155156425	C	T	155156425	3	4	242	1	0	0	0	0	1	0	0	0	16518	478	17	2	2077	2	TRIM46	1	155156425	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		155156425	94094196	1	4284											
COL3A1	1281	broad.mit.edu	37	2	189866147	189866147	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr2:189866147C>T	ENST00000304636.3	+	33	2478	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P770S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	770	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TATTGGTCCTCCTGGCCCAGC	0.373																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2308-2310)Cct>Tct		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						69	76	74					2																	189866147		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189866147C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2308C>T	2.37:g.189866147C>T	ENSP00000304408:p.Pro770Ser		Somatic					p.P770S	NM_000090	NP_000081	WXS	Illumina GAIIx	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		32	2425	+			770			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2308C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620605	0.66787	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95885	-3.84;-3.84	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000147	D	0.95095	0.8411	M	0.69248	2.105	0.53688	D	0.999979	P	0.49635	0.926	P	0.46362	0.514	D	0.94990	0.8133	10	0.54805	T	0.06	.	15.0318	0.71713	0.0:0.8582:0.1418:0.0	.	770	P02461	CO3A1_HUMAN	S	770	ENSP00000304408:P770S;ENSP00000315243:P770S	ENSP00000304408:P770S	P	+	1	0	COL3A1	189574392	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.776000	0.85560	2.694000	0.91930	0.557000	0.71058	CCT		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	52	0	0	0	1	0	5	52					T	189866147	C	T	189866147	3	4	242	1	0	0	0	0	1	0	0	0	3688	855	30	2	2438	2	COL3A1	2	189866147	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		189866147	53333226	2	4285											
KIF2A	3796	broad.mit.edu	37	5	61643970	61643970	+	Silent	SNP	A	A	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr5:61643970A>T	ENST00000401507.3	+	3	566	c.255A>T	c.(253-255)tcA>tcT	p.S85S	KIF2A_ENST00000407818.3_Silent_p.S85S|KIF2A_ENST00000506857.1_Silent_p.S58S|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000381103.2_Silent_p.S65S	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	85	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAGCATCCTCAGCCAAAGTAA	0.438																																						uc003jsz.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(253-255)tcA>tcT		Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 2, mRNA.							93	96	95					5																	61643970		2203	4300	6503	SO:0001819	synonymous_variant	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61643970A>T	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.255A>T	5.37:g.61643970A>T			Somatic				KIF2A_uc003jsx.4_Silent_p.S65S|KIF2A_uc010iwp.3_Silent_p.S85S|KIF2A_uc003jsy.4_Silent_p.S85S|KIF2A_uc010iwq.3_5'UTR	p.S85S	NM_001098511	NP_001091981	WXS	Illumina GAIIx	Phase_I	O00139	KIF2A_HUMAN		Lung(70;0.14)	2	566	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	85			Globular (Potential).		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Silent	SNP	ENST00000401507.3	37	c.255A>T	CCDS3980.2																																																																																				0.438	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		7	106	0	0	0	1	0	7	106					T	61643970	A	T	61643970	2	4	242	1	0	0	0	0	0	0	0	1	8297	175	7	5		5	KIF2A	5	61643970	Silent	SNP	A	TCGA-EM-A22N-01A-11D-A17V-08		61643970	119271290	3	4286											
C9orf95	54981	broad.mit.edu	37	9	77692099	77692099	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr9:77692099T>C	ENST00000361092.4	-	4	381	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	NMRK1_ENST00000376811.1_Missense_Mutation_p.K53E|NMRK1_ENST00000376808.4_Missense_Mutation_p.K49E	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	49					NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										AATCCATTTTTATCTGTCTCT	0.303																																						uc004ajs.4																			0											c.(157-159)Aaa>Gaa		Homo sapiens chromosome 9 open reading frame 95 (C9orf95), transcript variant 3, non-coding RNA.							118	126	123					9																	77692099		2201	4297	6498	SO:0001583	missense	54981				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity	g.chr9:77692099T>C	AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"chromosome 9 open reading frame 95"	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.145A>G	9.37:g.77692099T>C	ENSP00000354387:p.Lys49Glu		Somatic				NMRK1_uc004ajr.4_Missense_Mutation_p.K49E|NMRK1_uc004ajt.4_Missense_Mutation_p.K49E	p.K53E			WXS	Illumina GAIIx	Phase_I	Q9NWW6	NRK1_HUMAN			4	647	-			49					Q5W124|Q8N430	Missense_Mutation	SNP	ENST00000361092.4	37	c.157A>G	CCDS6650.1	.	.	.	.	.	.	.	.	.	.	T	5.210	0.224236	0.09863	.	.	ENSG00000106733	ENST00000376811;ENST00000376794;ENST00000361092;ENST00000376808	T;T;T	0.38887	1.11;1.11;1.11	6.06	-1.48	0.08745	.	0.712921	0.14239	N	0.332240	T	0.09992	0.0245	N	0.00403	-1.54	0.21553	N	0.999642	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.36720	-0.9736	10	0.02654	T	1	-2.4579	11.3098	0.49358	0.0:0.6247:0.0:0.3753	.	49;53;49	Q9NWW6-2;Q5W125;Q9NWW6	.;.;NRK1_HUMAN	E	53;53;49;49	ENSP00000366007:K53E;ENSP00000354387:K49E;ENSP00000366004:K49E	ENSP00000354387:K49E	K	-	1	0	C9orf95	76881919	1.000000	0.71417	0.756000	0.31282	0.995000	0.86356	0.943000	0.29030	-0.461000	0.06993	0.533000	0.62120	AAA		0.303	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052705.1	NM_017881		6	112	0	0	0	1	0	6	112					C	77692099	T	C	77692099	3	2	242	1	0	0	0	0	1	0	0	0	2507	1763	61	3	478	3	C9orf95	9	77692099	Missense_Mutation	SNP	T	TCGA-EM-A22N-01A-11D-A17V-08		77692099	63521332	4	4287											
OR5AK2	390181	broad.mit.edu	37	11	56756448	56756449	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr11:56756448_56756449GC>TT	ENST00000326855.2	+	1	102_103	c.60_61GC>TT	c.(58-63)caGCat>caTTat	p.20_21QH>HY		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20H(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGGTGCCCAGCATGAGTTTTG	0.411																																						uc010rjp.2																			1	Substitution - Missense(1)	p.Q20H(2)|p.A19V(1)|p.Q20fs*17(1)	breast(1)	breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(58-63)cagcat>caTTat		Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.																																				SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756448_56756449GC>TT	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	Exception_encountered	11.37:g.56756448_56756449delinsTT	ENSP00000322784:p.Q20_H21delinsHY		Somatic					p.20_21QH>HY	NM_001005323	NP_001005323	WXS	Illumina GAIIx	Phase_I	Q8NH90	O5AK2_HUMAN			0	60_61	+			20					B2RNZ9	Missense_Mutation	DNP	ENST00000326855.2	37	c.60_61GC>TT	CCDS31538.1																																																																																				0.411	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		12	77	0	0	0	1	0	12	77					TT	56756449	GC	TT	56756448	3	4	242	1	0	0	0	0	1	0	0	0	11142	962	34	4	62	4	OR5AK2	11	56756448	Missense_Mutation	DNP	GC	TCGA-EM-A22N-01A-11D-A17V-08		56756448	78250068	5	4288											
FAM60A	58516	broad.mit.edu	37	12	31440669	31440669	+	Silent	SNP	A	A	C			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:31440669A>C	ENST00000337682.4	-	5	773	c.405T>G	c.(403-405)ccT>ccG	p.P135P	FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Silent_p.P135P|FAM60A_ENST00000542983.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	135					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TACTGTAACAAGGAGATTGAG	0.378																																						uc001rkc.3																			0				large_intestine(1)|lung(2)	3						c.(478-480)ccT>ccG		Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.							78	75	76					12																	31440669		2203	4300	6503	SO:0001819	synonymous_variant	58516							g.chr12:31440669A>C	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.405T>G	12.37:g.31440669A>C			Somatic				FAM60A_uc010sjz.2_Silent_p.P135P|FAM60A_uc001rkd.3_Silent_p.P135P|FAM60A_uc010ska.2_Silent_p.P135P|FAM60A_uc001rke.3_Silent_p.P135P|FAM60A_uc010skb.2_Non-coding_Transcript	p.P160P	NM_021238	NP_067061	WXS	Illumina GAIIx	Phase_I	Q9NP50	FA60A_HUMAN			3	722	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		135					D3DUV8|Q9BSZ8	Silent	SNP	ENST00000337682.4	37	c.480T>G	CCDS8723.1																																																																																				0.378	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		6	37	0	0	0	1	0	6	37					C	31440669	A	C	31440669	2	2	242	1	0	0	0	0	0	0	0	1	5595	59	3	5		5	FAM60A	12	31440669	Silent	SNP	A	TCGA-EM-A22N-01A-11D-A17V-08		31440669	102411226	6	4289											
SH2B3	10019	broad.mit.edu	37	12	111885971	111885971	+	Silent	SNP	G	G	T	rs143956445		TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr12:111885971G>T	ENST00000341259.2	+	8	1950	c.1593G>T	c.(1591-1593)tcG>tcT	p.S531S	SH2B3_ENST00000538307.1_Silent_p.S329S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	531					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	TGGTGCCTTCGCCCGAAGAAC	0.637																																						uc001tsf.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1594-1596)tcG>tcT		Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.							70	78	75					12																	111885971		2203	4300	6503	SO:0001819	synonymous_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885971G>T	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1593G>T	12.37:g.111885971G>T			Somatic				SH2B3_uc001tse.3_Silent_p.S531S|SH2B3_uc010syf.2_Silent_p.S531S|SH2B3_uc010syg.2_Silent_p.S329S	p.S532S	NM_005475	NP_005466	WXS	Illumina GAIIx	Phase_I	Q9UQQ2	SH2B3_HUMAN			6	1623	+			531					B9EGG5|O95184	Silent	SNP	ENST00000341259.2	37	c.1596G>T	CCDS9153.1																																																																																				0.637	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		4	70	0	0	0	1	0	4	70					T	111885971	G	T	111885971	2	4	242	1	0	0	0	0	0	0	0	1	14229	1074	38	4		4	SH2B3	12	111885971	Silent	SNP	G	TCGA-EM-A22N-01A-11D-A17V-08	80445302	111885971	21965924	7	4290											
SLC38A7	55238	broad.mit.edu	37	16	58701385	58701385	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr16:58701385C>A	ENST00000570101.1	-	11	2176	c.1293G>T	c.(1291-1293)tgG>tgT	p.W431C	SLC38A7_ENST00000219320.4_Missense_Mutation_p.W431C|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564010.1_Missense_Mutation_p.W342C|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G297V			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	431					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGACCAGCACCCACCAGCTGT	0.498																																						uc002eod.1																			0		p.W431*(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1291-1293)tgG>tgT		Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.							100	85	90					16																	58701385		2198	4300	6498	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58701385C>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1293G>T	16.37:g.58701385C>A	ENSP00000454646:p.Trp431Cys		Somatic				SLC38A7_uc002eoc.1_Missense_Mutation_p.G297V|SLC38A7_uc010vil.1_Missense_Mutation_p.W342C	p.W431C	NM_018231	NP_060701	WXS	Illumina GAIIx	Phase_I	Q9NVC3	S38A7_HUMAN			11	1686	-			431					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.1293G>T	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047414	0.55110	.	.	ENSG00000103042	ENST00000219320	T	0.02258	4.37	5.98	5.98	0.97165	.	0.315734	0.39020	N	0.001485	T	0.05686	0.0149	N	0.17082	0.46	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.62001	-0.6946	9	.	.	.	-10.2782	19.4443	0.94840	0.0:1.0:0.0:0.0	.	431	Q9NVC3	S38A7_HUMAN	C	431	ENSP00000219320:W431C	.	W	-	3	0	SLC38A7	57258886	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.366000	0.44204	2.847000	0.97988	0.591000	0.81541	TGG		0.498	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		10	39	0	0	0	1	0	10	39					A	58701385	C	A	58701385	3	1	242	1	0	0	0	0	1	0	0	0	14609	624	22	4	99	4	SLC38A7	16	58701385	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		58701385	31653368	8	4291											
CACNA1A	773	broad.mit.edu	37	19	13476148	13476148	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22N-01A-11D-A17V-08	TCGA-EM-A22N-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc054c7d-24bf-41f8-a070-7efc83a268dd	34edeffa-fb00-404d-ae19-6e7bf8de9fa2	g.chr19:13476148C>T	ENST00000360228.5	-	5	766	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.C256Y	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	256			C -> R (in EA2; dbSNP:rs121908231). {ECO:0000269|PubMed:15173248}.		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)	CTCTTCAAAGCAGGTGGTATG	0.453																																						uc010xne.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(766-768)tGc>tAc		Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 2, mRNA.	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						99	100	100					19																	13476148		1882	4105	5987	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.chr19:13476148C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.767G>A	19.37:g.13476148C>T	ENSP00000353362:p.Cys256Tyr		Somatic				CACNA1A_uc010xnd.2_Missense_Mutation_p.C256Y|CACNA1A_uc021ups.1_Missense_Mutation_p.C256Y|CACNA1A_uc002mwy.3_Missense_Mutation_p.C256Y|CACNA1A_uc010dze.2_Missense_Mutation_p.C256Y|CACNA1A_uc021upt.1_Missense_Mutation_p.C256Y	p.C256Y	NM_023035	NP_075461	WXS	Illumina GAIIx	Phase_I	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		4	1003	-			256		C -> R (in EA2; dbSNP:rs121908231).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.767G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476644	0.63737	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98762	-5.12	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.97617	1.0133	10	0.87932	D	0	.	18.2896	0.90124	0.0:1.0:0.0:0.0	.	256;256	O00555;Q9NS88	CAC1A_HUMAN;.	Y	256	ENSP00000353362:C256Y	ENSP00000317661:C256Y	C	-	2	0	CACNA1A	13337148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.603000	0.88011	0.655000	0.94253	TGC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		19	75	0	0	0	1	0	19	75					T	13476148	C	T	13476148	3	4	242	1	0	0	0	0	1	0	0	0	2538	710	25	2	7039	2	CACNA1A	19	13476148	Missense_Mutation	SNP	C	TCGA-EM-A22N-01A-11D-A17V-08		13476148	45652835	9	4292											
TCEA3	6920	broad.mit.edu	37	1	23743819	23743819	+	Silent	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:23743819T>C	ENST00000450454.2	-	4	409	c.303A>G	c.(301-303)aaA>aaG	p.K101K	TCEA3_ENST00000374601.3_Silent_p.K101K|TCEA3_ENST00000461794.1_Silent_p.K64K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	101					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACTCAAGccctttttccttct	0.473																																						uc021oig.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(301-303)aaA>aaG		Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.							183	174	177					1																	23743819		1847	4094	5941	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23743819T>C	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.303A>G	1.37:g.23743819T>C			Somatic				TCEA3_uc021oih.1_Silent_p.K80K|TCEA3_uc010ody.1_Silent_p.K64K	p.K101K	NM_003196	NP_003187	WXS	Illumina GAIIx	Phase_I	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	3	438	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	101					A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.303A>G	CCDS44086.1																																																																																				0.473	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		3	123	0	0	0	1	0	3	123					C	23743819	T	C	23743819	2	2	243	1	0	0	0	0	0	0	0	1	15666	1606	56	3		3	TCEA3	1	23743819	Silent	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		23743819	225506802	1	4293											
CNKSR1	10256	broad.mit.edu	37	1	26507021	26507021	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:26507021C>G	ENST00000374253.5	+	2	169	c.130C>G	c.(130-132)Caa>Gaa	p.Q44E	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.Q44E	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	44	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|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;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGCCCCCAAAGCCTCGA	0.622																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(130-132)Caa>Gaa		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.							64	69	67					1																	26507021		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507021C>G	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.130C>G	1.37:g.26507021C>G	ENSP00000363371:p.Gln44Glu		Somatic				CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.Q44E|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	p.Q44E	NM_006314	NP_006305	WXS	Illumina GAIIx	Phase_I	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	188	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	44			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.130C>G		.	.	.	.	.	.	.	.	.	.	C	13.00	2.106066	0.37145	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.41065	1.01;1.01	5.0	4.09	0.47781	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.571210	0.19138	N	0.121769	T	0.32406	0.0828	L	0.28608	0.87	0.80722	D	1	B;B	0.16802	0.019;0.019	B;B	0.22152	0.038;0.023	T	0.08513	-1.0718	10	0.36615	T	0.2	-4.6009	12.4729	0.55797	0.0:0.9179:0.0:0.0821	.	44;44	Q969H4;Q53GM7	CNKR1_HUMAN;.	E	44	ENSP00000354609:Q44E;ENSP00000363371:Q44E	ENSP00000354609:Q44E	Q	+	1	0	CNKSR1	26379608	0.325000	0.24660	0.817000	0.32601	0.375000	0.29983	2.755000	0.47540	1.359000	0.45940	0.655000	0.94253	CAA		0.622	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		7	93	0	0	0	1	0	7	93					G	26507021	C	G	26507021	3	3	243	1	0	0	0	0	1	0	0	0	3606	595	21	4	136	4	CNKSR1	1	26507021	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	2763202	26507021	222743600	2	4294											
ATXN7L2	127002	broad.mit.edu	37	1	110033986	110033986	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:110033986C>G	ENST00000369870.3	+	10	1816	c.1801C>G	c.(1801-1803)Ctc>Gtc	p.L601V	CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000369868.3_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	601										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGTAGGGGCCTCTCGGCCAA	0.592																																						uc001dxr.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1801-1803)Ctc>Gtc		Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.							57	63	61					1																	110033986		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110033986C>G	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1801C>G	1.37:g.110033986C>G	ENSP00000358886:p.Leu601Val		Somatic				ATXN7L2_uc001dxs.3_Missense_Mutation_p.L228V|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	p.L601V	NM_153340	NP_699171	WXS	Illumina GAIIx	Phase_I	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	9	1816	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	601						Missense_Mutation	SNP	ENST00000369870.3	37	c.1801C>G	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336705	0.41398	.	.	ENSG00000162650	ENST00000369870;ENST00000369869	T	0.33216	1.42	4.77	4.77	0.60923	.	0.232304	0.25006	N	0.033868	T	0.24624	0.0597	N	0.19112	0.55	0.32418	N	0.549767	D;D	0.61697	0.99;0.97	D;B	0.72982	0.979;0.352	T	0.09335	-1.0679	10	0.59425	D	0.04	-12.6035	8.8422	0.35148	0.0:0.9005:0.0:0.0995	.	228;601	Q5T6C4;Q5T6C5	.;AT7L2_HUMAN	V	601;228	ENSP00000358886:L601V	ENSP00000358885:L228V	L	+	1	0	ATXN7L2	109835509	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.379000	0.59575	2.468000	0.83385	0.462000	0.41574	CTC		0.592	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		37	54	0	0	0	1	0	37	54					G	110033986	C	G	110033986	3	3	243	1	0	0	0	0	1	0	0	0	1217	681	24	4	1839	4	ATXN7L2	1	110033986	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	83526965	110033986	139216635	3	4295											
TTC27	55622	broad.mit.edu	37	2	33036256	33036256	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:33036256G>A	ENST00000317907.4	+	17	2395	c.2164G>A	c.(2164-2166)Ggg>Agg	p.G722R		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	722										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATATGGAAATGGGCAGAGTGA	0.433																																						uc002rom.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2164-2166)Ggg>Agg		Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.							101	104	103					2																	33036256		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33036256G>A	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2164G>A	2.37:g.33036256G>A	ENSP00000313953:p.Gly722Arg		Somatic				TTC27_uc010ymx.2_Missense_Mutation_p.G672R	p.G722R	NM_017735	NP_001180438	WXS	Illumina GAIIx	Phase_I	Q6P3X3	TTC27_HUMAN			16	2437	+			722					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.2164G>A	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666117	0.67700	.	.	ENSG00000018699	ENST00000317907	T	0.59224	0.28	5.22	5.22	0.72569	.	0.048626	0.85682	D	0.000000	T	0.68421	0.2999	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.60042	-0.7340	10	0.10111	T	0.7	-18.5207	18.9912	0.92793	0.0:0.0:1.0:0.0	.	722	Q6P3X3	TTC27_HUMAN	R	722	ENSP00000313953:G722R	ENSP00000313953:G722R	G	+	1	0	TTC27	32889760	1.000000	0.71417	0.987000	0.45799	0.373000	0.29922	7.753000	0.85153	2.708000	0.92522	0.650000	0.86243	GGG		0.433	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		13	16	0	0	0	1	0	13	16					A	33036256	G	A	33036256	3	1	243	1	0	0	0	0	1	0	0	0	16692	1348	47	2	2230	2	TTC27	2	33036256	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		33036256	210163117	4	4296											
PKP4	8502	broad.mit.edu	37	2	159519930	159519930	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:159519930C>T	ENST00000389759.3	+	15	2662	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Silent_p.L850L|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	850					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						CAGGGTCTCTCCAGAACCTCT	0.453										HNSCC(62;0.18)																												uc002tzv.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.(2548-2550)ctC>ctT		Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.							59	60	60					2																	159519930		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159519930C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2550C>T	2.37:g.159519930C>T		HNSCC(62;0.18)	Somatic				PKP4_uc002tzu.3_Silent_p.L850L|PKP4_uc002tzw.3_Silent_p.L850L|PKP4_uc002tzx.3_Silent_p.L507L|PKP4_uc002uaa.3_Silent_p.L702L|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.L31L	p.L850L	NM_003628	NP_003619	WXS	Illumina GAIIx	Phase_I	Q99569	PKP4_HUMAN			14	2810	+			850					Q86W91	Silent	SNP	ENST00000389759.3	37	c.2550C>T	CCDS33305.1																																																																																				0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			19	29	0	0	0	1	0	19	29					T	159519930	C	T	159519930	2	4	243	1	0	0	0	0	0	0	0	1	11987	842	30	2		2	PKP4	2	159519930	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	126483674	159519930	83679443	5	4297											
CDK15	65061	broad.mit.edu	37	2	202744823	202744823	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:202744823C>T	ENST00000374598.4	+	12	1131	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	CDK15_ENST00000410091.3_Silent_p.S326S|CDK15_ENST00000450471.2_Silent_p.S377S|CDK15_ENST00000434439.1_Silent_p.S377S|CDK15_ENST00000260967.2_Silent_p.S326S			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACCGCGTCTCCGCCCAGGAAG	0.552																																						uc002uyt.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(1129-1131)tcC>tcT		Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	Adenosine triphosphate(DB00171)						86	76	79					2																	202744823		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744823C>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"Cyclin-dependent kinases"	14434	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7", "PFTAIRE protein kinase 2"	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1131C>T	2.37:g.202744823C>T			Somatic				CDK15_uc002uys.2_Silent_p.S326S|CDK15_uc010ftn.1_Silent_p.S326S|CDK15_uc002uyu.1_Non-coding_Transcript	p.S377S	NM_139158	NP_631897	WXS	Illumina GAIIx	Phase_I	Q96Q40	CDK15_HUMAN			11	1180	+			377			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.1131C>T																																																																																					0.552	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			7	65	0	0	0	1	0	7	65					T	202744823	C	T	202744823	2	4	243	1	0	0	0	0	0	0	0	1	3131	639	23	1		1	CDK15	2	202744823	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	43224893	202744823	40454550	6	4298											
CCDC39	339829	broad.mit.edu	37	3	180381672	180381672	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr3:180381672C>G	ENST00000442201.2	-	2	312	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	CCDC39_ENST00000273654.4_Missense_Mutation_p.E149Q	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	65					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGAGAGCTCTTGCTTAACA	0.353																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(193-195)Gag>Cag		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							143	133	137					3																	180381672		1841	4095	5936	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381672C>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.193G>C	3.37:g.180381672C>G	ENSP00000405708:p.Glu65Gln		Somatic				CCDC39_uc003fkn.3_Non-coding_Transcript	p.E65Q	NM_181426	NP_852091	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		1	308	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		65					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.193G>C	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352188	0.82132	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.80480	-1.38	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	M	0.85945	2.785	0.47905	D	0.999549	D	0.89917	1.0	D	0.97110	1.0	D	0.90717	0.4632	10	0.54805	T	0.06	-26.7352	17.3718	0.87380	0.0:1.0:0.0:0.0	.	65	Q9UFE4	CCD39_HUMAN	Q	149;65;47	ENSP00000418702:E47Q	ENSP00000273654:E149Q	E	-	1	0	CCDC39	181864366	1.000000	0.71417	0.739000	0.30968	0.964000	0.63967	5.161000	0.64935	2.890000	0.99128	0.585000	0.79938	GAG		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		15	44	0	0	0	1	0	15	44					G	180381672	C	G	180381672	3	3	243	1	0	0	0	0	1	0	0	0	2811	922	32	4	2708	4	CCDC39	3	180381672	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		180381672	17640758	7	4299											
SDAD1	55153	broad.mit.edu	37	4	76886950	76886950	+	Silent	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:76886950A>G	ENST00000356260.5	-	13	1189	c.1071T>C	c.(1069-1071)gcT>gcC	p.A357A	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.A320A	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	357					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGCTTGTGCAGCAAACAGAA	0.473																																						uc003hje.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(1069-1071)gcT>gcC		Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.							169	154	159					4																	76886950		2203	4300	6503	SO:0001819	synonymous_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76886950A>G	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1071T>C	4.37:g.76886950A>G			Somatic				SDAD1_uc003hjf.4_Silent_p.A260A|SDAD1_uc011cbr.2_Silent_p.A320A	p.A357A	NM_018115	NP_060585	WXS	Illumina GAIIx	Phase_I	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1190	-			357					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	c.1071T>C	CCDS3573.2																																																																																				0.473	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		29	79	0	0	0	1	0	29	79					G	76886950	A	G	76886950	2	3	243	1	0	0	0	0	0	0	0	1	13950	175	7	3		3	SDAD1	4	76886950	Silent	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		76886950	114267326	8	4300											
HNRPDL	9987	broad.mit.edu	37	4	83350530	83350530	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:83350530G>A	ENST00000295470.5	-	1	489	c.314C>T	c.(313-315)aCc>aTc	p.T105I	HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.T105I|HNRNPDL_ENST00000602300.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	105					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CGCAGTCCGGGTCGCGGCAGC	0.622																																						uc003hmr.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(313-315)aCc>aTc		Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.							46	57	54					4																	83350530		2203	4300	6503	SO:0001583	missense	9987				RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83350530G>A	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.314C>T	4.37:g.83350530G>A	ENSP00000295470:p.Thr105Ile		Somatic				ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.T105I	p.T105I	NM_031372	NP_112740	WXS	Illumina GAIIx	Phase_I	O14979	HNRDL_HUMAN			0	849	-		Hepatocellular(203;0.114)	105					Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.314C>T	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	g	15.76	2.928799	0.52759	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	T;T	0.68331	-0.32;-0.32	4.94	4.07	0.47477	.	0.000000	0.44688	D	0.000425	T	0.44117	0.1278	N	0.08118	0	0.39380	D	0.966246	B	0.28026	0.198	B	0.18263	0.021	T	0.44832	-0.9302	10	0.39692	T	0.17	.	12.7407	0.57251	0.0:0.1659:0.8341:0.0	.	105	O14979	HNRDL_HUMAN	I	105	ENSP00000295470:T105I;ENSP00000422040:T105I	ENSP00000295470:T105I	T	-	2	0	HNRPDL	83569554	0.533000	0.26354	0.073000	0.20177	0.526000	0.34562	0.653000	0.24902	1.405000	0.46838	0.585000	0.79938	ACC		0.622	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		19	59	0	0	0	1	0	19	59					A	83350530	G	A	83350530	3	1	243	1	0	0	0	0	1	0	0	0	7276	1261	44	2	976	2	HNRPDL	4	83350530	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	6463580	83350530	107803746	9	4301											
DDX60L	91351	broad.mit.edu	37	4	169374416	169374416	+	Silent	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:169374416T>C	ENST00000511577.1	-	8	1102	c.855A>G	c.(853-855)ctA>ctG	p.L285L	DDX60L_ENST00000260184.7_Silent_p.L285L|DDX60L_ENST00000505890.1_Silent_p.L285L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	285							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTGCAGGGATAGGCAATTAC	0.463																																						uc021xuh.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(853-855)ctA>ctG		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.							76	79	78					4																	169374416		2024	4206	6230	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169374416T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.855A>G	4.37:g.169374416T>C			Somatic				DDX60L_uc003irq.4_Silent_p.L285L|DDX60L_uc003irr.1_Silent_p.L285L|DDX60L_uc003irs.1_Silent_p.L12L	p.L285L	NM_001012967	NP_001012985	WXS	Illumina GAIIx	Phase_I	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	6	965	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	285					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.855A>G																																																																																					0.463	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		11	16	0	0	0	1	0	11	16					C	169374416	T	C	169374416	2	2	243	1	0	0	0	0	0	0	0	1	4379	1393	49	3		3	DDX60L	4	169374416	Silent	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	86023886	169374416	21779860	10	4302											
CSNK1G3	1456	broad.mit.edu	37	5	122881412	122881412	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr5:122881412A>G	ENST00000361991.2	+	1	85	c.55A>G	c.(55-57)Agt>Ggt	p.S19G	CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.S19G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.S19G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.S19G|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.S19G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	19					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GGCACGACCTAGTGGTCGATC	0.403																																					Pancreas(187;2868 2964 4353 6297)	uc003ktl.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(55-57)Agt>Ggt		Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 4, mRNA.							135	115	122					5																	122881412		2203	4300	6503	SO:0001583	missense	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881412A>G	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.55A>G	5.37:g.122881412A>G	ENSP00000354942:p.Ser19Gly		Somatic				CSNK1G3_uc003ktn.3_Missense_Mutation_p.S19G|CSNK1G3_uc003ktm.3_Missense_Mutation_p.S19G|CSNK1G3_uc003kto.3_Missense_Mutation_p.S19G|CSNK1G3_uc011cwr.2_Intron|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Missense_Mutation_p.S19G	p.S19G	NM_001044723	NP_001038188	WXS	Illumina GAIIx	Phase_I	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	1	774	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	19					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	c.55A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.425353	0.25639	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T	0.51574	0.71;0.7;0.73;0.73;0.7;0.7;0.71	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.27053	0.805	0.44402	D	0.99731	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.10450	0.002;0.005;0.002;0.005	T	0.13308	-1.0514	10	0.15952	T	0.53	.	15.4517	0.75279	1.0:0.0:0.0:0.0	.	19;19;19;19	A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;KC1G3_HUMAN;.	G	19	ENSP00000378807:S19G;ENSP00000378806:S19G;ENSP00000334735:S19G;ENSP00000429412:S19G;ENSP00000423838:S19G;ENSP00000354942:S19G;ENSP00000353904:S19G	ENSP00000334735:S19G	S	+	1	0	CSNK1G3	122909311	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.209000	0.42806	2.263000	0.75096	0.533000	0.62120	AGT		0.403	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		3	26	0	0	0	1	0	3	26					G	122881412	A	G	122881412	3	3	243	1	0	0	0	0	1	0	0	0	3956	420	15	3	57	3	CSNK1G3	5	122881412	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		122881412	58033848	11	4303											
PRICKLE4	29964	broad.mit.edu	37	6	41754716	41754716	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr6:41754716A>G	ENST00000394260.1	+	5	884	c.884A>G	c.(883-885)aAg>aGg	p.K295R	TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.K335R|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.K335R|TOMM6_ENST00000398884.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	295						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGTGATCCCAAGGACACCCCT	0.607											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011duf.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(1003-1005)aAg>aGg		Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.							128	151	143					6																	41754716		2203	4300	6503	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41754716A>G	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.884A>G	6.37:g.41754716A>G	ENSP00000377803:p.Lys295Arg		Somatic	OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	903	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_Non-coding_Transcript|TOMM6_uc011dug.1_5'UTR	p.K335R	NM_013397	NP_037529	WXS	Illumina GAIIx	Phase_I	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1252	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		295					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.1004A>G		.	.	.	.	.	.	.	.	.	.	A	9.611	1.131166	0.21041	.	.	ENSG00000124593	ENST00000458694;ENST00000394263;ENST00000394260	D;D;D	0.84873	-1.91;-1.91;-1.91	2.2	-4.4	0.03600	.	0.274599	0.25860	N	0.027834	T	0.46464	0.1394	L	0.27053	0.805	0.41394	D	0.987634	B	0.09022	0.002	B	0.09377	0.004	T	0.18116	-1.0347	10	0.25751	T	0.34	-1.4461	0.41	0.00439	0.3449:0.192:0.2742:0.1889	.	335	Q2TBC4-3	.	R	335;335;295	ENSP00000404911:K335R;ENSP00000377806:K335R;ENSP00000377803:K295R	ENSP00000335185:K335R	K	+	2	0	PRICKLE4	41862694	0.769000	0.28531	0.006000	0.13384	0.003000	0.03518	2.635000	0.46537	-1.250000	0.02497	-0.441000	0.05720	AAG		0.607	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		4	165	0	0	0	1	0	4	165					G	41754716	A	G	41754716	3	3	243	1	0	0	0	0	1	0	0	0	12489	72	3	3	1026	3	PRICKLE4	6	41754716	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08		41754716	129360351	12	4304											
MUC17	140453	broad.mit.edu	37	7	100679804	100679804	+	Missense_Mutation	SNP	G	G	A	rs71525815		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:100679804G>A	ENST00000306151.4	+	3	5171	c.5107G>A	c.(5107-5109)Gcc>Acc	p.A1703T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1703	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)					AACACCGGTGGCCAGCTCTGC	0.478																																						uc003uxp.1																			0		p.A1703A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5107-5109)Gcc>Acc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							184	198	193					7																	100679804		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679804G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5107G>A	7.37:g.100679804G>A	ENSP00000302716:p.Ala1703Thr		Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.A1703T	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	5160	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1703			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5107G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199843	0.06219	.	.	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01320	0.0043	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.49163	-0.8968	9	0.02654	T	1	.	2.2302	0.03994	0.4295:0.3137:0.2568:0.0	.	1703	Q685J3	MUC17_HUMAN	T	1703	ENSP00000302716:A1703T	ENSP00000302716:A1703T	A	+	1	0	MUC17	100466524	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.235000	0.00139	-0.910000	0.03847	0.134000	0.15878	GCC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		23	289	0	0	0	1	0	23	289					A	100679804	G	A	100679804	3	1	243	1	0	0	0	0	1	0	0	0	9974	1203	42	2	5117	2	MUC17	7	100679804	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		100679804	58458859	13	4305											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	23	0	0	0	1	0	14	23					T	140453136	A	T	140453136	3	4	243	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	39773332	140453136	18685527	14	4306											
KCNH2	3757	broad.mit.edu	37	7	150648922	150648922	+	Splice_Site	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:150648922A>G	ENST00000262186.5	-	7	1960	c.1559T>C	c.(1558-1560)cTg>cCg	p.L520P	KCNH2_ENST00000392968.2_Splice_Site_p.L424P|KCNH2_ENST00000330883.4_Splice_Site_p.L180P|KCNH2_ENST00000430723.3_Splice_Site_p.L520P	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	520					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CAGCCCGATCAGCTGGGGGAC	0.667																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.3																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.e7-1		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						22	24	23					7																	150648922		2202	4296	6498	SO:0001630	splice_region_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648922A>G	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1558-1T>C	7.37:g.150648922A>G			Somatic				KCNH2_uc003wib.3_Splice_Site_p.L180_splice|KCNH2_uc011kux.2_Splice_Site_p.L424_splice|KCNH2_uc003wid.3_Splice_Site_p.L180_splice|KCNH2_uc003wie.3_Splice_Site_p.L520_splice	p.L520_splice	NM_000238	NP_000229	WXS	Illumina GAIIx	Phase_I	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1959	-	all_neural(206;0.219)		520					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Splice_Site	SNP	ENST00000262186.5	37	c.1558_splice	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456564	0.43634	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.98960	0.9646	M	0.84846	2.72	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.998;0.986;0.733	D;D;D;P;P	0.91635	0.999;0.998;0.981;0.897;0.493	D	0.99047	1.0826	10	0.44086	T	0.13	.	11.0763	0.48034	1.0:0.0:0.0:0.0	.	424;520;180;520;180	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	P	180;424;520;180;520	ENSP00000328531:L180P;ENSP00000376695:L424P;ENSP00000262186:L520P;ENSP00000387657:L520P	ENSP00000262186:L520P	L	-	2	0	KCNH2	150279855	1.000000	0.71417	0.955000	0.39395	0.096000	0.18686	8.998000	0.93550	1.728000	0.51552	0.402000	0.26972	CTG		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	Missense_Mutation	3	37	0	0	0	1	0	3	37					G	150648922	A	G	150648922	5	3	243	1	0	0	0	0	0	0	1	0	8032	202	7	3	2225	3	KCNH2	7	150648922	Splice_Site	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	10195786	150648922	8489741	15	4307											
PABPC1	26986	broad.mit.edu	37	8	101719214	101719214	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr8:101719214T>C	ENST00000318607.5	-	10	2476	c.1348A>G	c.(1348-1350)Atg>Gtg	p.M450V	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.M405V|PABPC1_ENST00000522387.1_Missense_Mutation_p.M418V|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	450					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCGGGCATATTTTGGAAT	0.438																																						uc003yjs.1																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(1348-1350)Atg>Gtg		Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.							54	54	54					8																	101719214		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719214T>C	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1348A>G	8.37:g.101719214T>C	ENSP00000313007:p.Met450Val		Somatic				PABPC1_uc011lhc.1_Missense_Mutation_p.M418V|PABPC1_uc011lhd.1_Missense_Mutation_p.M405V|PABPC1_uc003yjt.1_Missense_Mutation_p.M447V|PABPC1_uc003yju.2_Intron	p.M450V	NM_002568	NP_002559	WXS	Illumina GAIIx	Phase_I	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		9	1852	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		450					Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.1348A>G	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.86|10.86	1.468962|1.468962	0.26335|0.26335	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387	.|T;T;T	.|0.29397	.|1.67;1.57;2.65	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25269|0.25269	0.0614|0.0614	L|L	0.33293|0.33293	1|1	0.54753|0.54753	D|D	0.999989|0.999989	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.04737|0.04737	-1.0930|-1.0930	5|9	.|.	.|.	.|.	.|.	16.1251|16.1251	0.81386|0.81386	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|418;450;450	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	M|V	102|450;405;418	.|ENSP00000313007:M450V;ENSP00000429594:M405V;ENSP00000429395:M418V	.|.	I|M	-|-	3|1	3|0	PABPC1|PABPC1	101788390|101788390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.414000|7.414000	0.80117|0.80117	2.272000|2.272000	0.75746|0.75746	0.528000|0.528000	0.53228|0.53228	ATA|ATG		0.438	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		3	48	0	0	0	1	0	3	48					C	101719214	T	C	101719214	3	2	243	1	0	0	0	0	1	0	0	0	11363	1406	49	3	582	3	PABPC1	8	101719214	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		101719214	44644808	16	4308											
NIPSNAP3A	25934	broad.mit.edu	37	9	107510105	107510105	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr9:107510105C>T	ENST00000374767.4	+	1	137	c.32C>T	c.(31-33)gCg>gTg	p.A11V		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGACTCGGGCGCTGGCCTCA	0.682																																						uc004bch.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(31-33)gCg>gTg		Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.							11	13	12					9																	107510105		2195	4281	6476	SO:0001583	missense	55335							g.chr9:107510105C>T	BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.32C>T	9.37:g.107510105C>T	ENSP00000363899:p.Ala11Val		Somatic				NIPSNAP3B_uc011lvt.2_Missense_Mutation_p.A11V|NIPSNAP3B_uc011lvu.1_Missense_Mutation_p.A11V	p.A11V	NM_015469	NP_056284	WXS	Illumina GAIIx	Phase_I	Q9BS92	NPS3B_HUMAN			0	137	+			11					A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	c.32C>T	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504959	0.64410	.	.	ENSG00000136783	ENST00000374767	T	0.56611	0.45	3.67	-1.46	0.08800	.	0.688763	0.13796	N	0.362143	T	0.42108	0.1188	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.34527	-0.9825	10	0.48119	T	0.1	.	7.3163	0.26503	0.0:0.4292:0.0:0.5708	.	11;11	B4DW81;Q9UFN0	.;NPS3A_HUMAN	V	11	ENSP00000363899:A11V	ENSP00000363899:A11V	A	+	2	0	NIPSNAP3A	106549926	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.194000	0.09559	-0.305000	0.08831	0.563000	0.77884	GCG		0.682	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469		6	15	0	0	0	1	0	6	15					T	107510105	C	T	107510105	3	4	243	1	0	0	0	0	1	0	0	0	10430	768	27	1	34	1	NIPSNAP3A	9	107510105	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		107510105	33703326	17	4309											
FZD8	8325	broad.mit.edu	37	10	35929590	35929590	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:35929590C>A	ENST00000374694.1	-	1	772	c.768G>T	c.(766-768)caG>caT	p.Q256H	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	256					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGTTAGCGATCTGGCCTGTCT	0.682																																						uc001iyz.1																			0		p.G255G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(766-768)caG>caT		Homo sapiens frizzled family receptor 8 (FZD8), mRNA.							42	41	41					10																	35929590		2202	4300	6502	SO:0001583	missense	8325				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929590C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.768G>T	10.37:g.35929590C>A	ENSP00000363826:p.Gln256His		Somatic					p.Q256H	NM_031866	NP_114072	WXS	Illumina GAIIx	Phase_I	Q9H461	FZD8_HUMAN			0	773	-			256						Missense_Mutation	SNP	ENST00000374694.1	37	c.768G>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344727	0.24426	.	.	ENSG00000177283	ENST00000374694	T	0.80994	-1.44	2.6	2.6	0.31112	.	0.079813	0.51477	U	0.000093	T	0.70727	0.3257	L	0.32530	0.975	0.39784	D	0.972334	B	0.21520	0.057	B	0.24269	0.052	T	0.70622	-0.4821	10	0.46703	T	0.11	.	12.2947	0.54838	0.0:1.0:0.0:0.0	.	256	Q9H461	FZD8_HUMAN	H	256	ENSP00000363826:Q256H	ENSP00000363826:Q256H	Q	-	3	2	FZD8	35969596	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.542000	0.36137	1.458000	0.47871	0.289000	0.19496	CAG		0.682	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		26	23	0	0	0	1	0	26	23					A	35929590	C	A	35929590	3	1	243	1	0	0	0	0	1	0	0	0	6136	912	32	4	1320	4	FZD8	10	35929590	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		35929590	99605157	18	4310											
CDH23	64072	broad.mit.edu	37	10	73537998	73537998	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:73537998A>G	ENST00000224721.6	+	39	5140	c.5135A>G	c.(5134-5136)tAc>tGc	p.Y1712C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1707	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACGGCCGCTACACCCTGATC	0.607																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5110-5112)tAc>tGc		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							77	86	83					10																	73537998		2116	4223	6339	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73537998A>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5135A>G	10.37:g.73537998A>G	ENSP00000224721:p.Tyr1712Cys		Somatic					p.Y1704C	NM_022124	NP_071407	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			37	5501	+			1707			Cadherin 16.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5111A>G		.	.	.	.	.	.	.	.	.	.	A	25.4	4.630684	0.87660	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91505	0.5222	9	0.87932	D	0	.	15.4434	0.75208	1.0:0.0:0.0:0.0	.	1707	Q9H251	CAD23_HUMAN	C	1712;1707;1710	.	ENSP00000224721:Y1712C	Y	+	2	0	CDH23	73208004	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.194000	0.94962	2.053000	0.61076	0.533000	0.62120	TAC		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	60	0	0	0	1	0	5	60					G	73537998	A	G	73537998	3	3	243	1	0	0	0	0	1	0	0	0	3108	391	14	3	5619	3	CDH23	10	73537998	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	37608408	73537998	61996749	19	4311											
CARS	833	broad.mit.edu	37	11	3023813	3023813	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:3023813C>T	ENST00000397111.5	-	20	2231	c.1986G>A	c.(1984-1986)agG>agA	p.R662R	CARS_ENST00000401769.3_Silent_p.R675R|CARS_ENST00000278224.9_Silent_p.R662R|CARS_ENST00000470221.2_Intron|CARS_ENST00000397114.3_Silent_p.R652R|CARS_ENST00000380525.4_Silent_p.R745R			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	662					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTCTTCTTCCTCTTCTCCT	0.557			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxf.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(2233-2235)agG>agA		Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	L-Cysteine(DB00151)						234	225	228					11																	3023813		2202	4298	6500	SO:0001819	synonymous_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3023813C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1986G>A	11.37:g.3023813C>T			Somatic				CARS_uc009ydu.3_Intron|CARS_uc010qxo.2_Silent_p.R745R|CARS_uc001lxe.3_Silent_p.R652R|CARS_uc001lxg.3_Silent_p.R662R|CARS_uc001lxh.3_Silent_p.R662R|CARS_uc010qxp.2_Silent_p.R675R	p.R745R	NM_001014437	NP_001014437	WXS	Illumina GAIIx	Phase_I	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	20	2319	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	662					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	c.2235G>A	CCDS7742.1																																																																																				0.557	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		46	235	0	0	0	1	0	46	235					T	3023813	C	T	3023813	2	4	243	1	0	0	0	0	0	0	0	1	2657	854	30	2		2	CARS	11	3023813	Silent	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		3023813	131982703	20	4312											
BTBD10	84280	broad.mit.edu	37	11	13441034	13441034	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:13441034G>A	ENST00000278174.5	-	4	802	c.557C>T	c.(556-558)aCt>aTt	p.T186I	BTBD10_ENST00000530907.1_Missense_Mutation_p.T194I|BTBD10_ENST00000528120.1_Missense_Mutation_p.T138I|BTBD10_ENST00000532261.1_5'Flank	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	186	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGCTGTGCAGTAAAAATGGA	0.333																																						uc010rcl.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(580-582)aCt>aTt		Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.							116	120	119					11																	13441034		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13441034G>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.557C>T	11.37:g.13441034G>A	ENSP00000278174:p.Thr186Ile		Somatic				BTBD10_uc001mkz.3_Missense_Mutation_p.T186I|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Missense_Mutation_p.T138I|BTBD10_uc010rcn.2_Missense_Mutation_p.T155I|BTBD10_uc009ygo.3_Missense_Mutation_p.T138I	p.T194I	NM_032320	NP_115696	WXS	Illumina GAIIx	Phase_I	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	2	852	-			186			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.581C>T	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832572	0.71258	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.81821	-1.54;-1.54;-1.54	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (2);	0.047168	0.85682	D	0.000000	T	0.80042	0.4551	L	0.56340	1.77	0.80722	D	1	B;B;B;B	0.22480	0.008;0.07;0.023;0.023	B;B;B;B	0.27715	0.018;0.082;0.028;0.028	T	0.76822	-0.2817	10	0.56958	D	0.05	-62.6954	18.8084	0.92048	0.0:0.0:1.0:0.0	.	155;194;186;186	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	I	186;194;138	ENSP00000278174:T186I;ENSP00000431186:T194I;ENSP00000435257:T138I	ENSP00000278174:T186I	T	-	2	0	BTBD10	13397610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.856000	0.86956	2.534000	0.85438	0.650000	0.86243	ACT		0.333	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		3	55	0	0	0	1	0	3	55					A	13441034	G	A	13441034	3	1	243	1	0	0	0	0	1	0	0	0	1538	1029	36	2	894	2	BTBD10	11	13441034	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	10417221	13441034	121565482	21	4313											
ATM	472	broad.mit.edu	37	11	108190727	108190727	+	Missense_Mutation	SNP	C	C	G	rs551408889		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:108190727C>G	ENST00000452508.2	+	45	6583	c.6394C>G	c.(6394-6396)Cta>Gta	p.L2132V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2132V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2132	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTACAATGCTCTACAATCTCT	0.299			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6394-6396)Cta>Gta	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							95	101	99					11																	108190727		2201	4292	6493	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108190727C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6394C>G	11.37:g.108190727C>G	ENSP00000388058:p.Leu2132Val	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Missense_Mutation_p.L2132V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L784V|ATM_uc001pkg.1_Missense_Mutation_p.L489V	p.L2132V	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	43	6779	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2132			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6394C>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701631	0.30142	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70399	-0.48;-0.48	5.59	3.6	0.41247	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.066388	0.64402	D	0.000008	T	0.58061	0.2096	L	0.41415	1.275	0.80722	D	1	B	0.16603	0.018	B	0.24974	0.057	T	0.52396	-0.8581	10	0.31617	T	0.26	.	6.5819	0.22598	0.0:0.6885:0.1445:0.1669	.	2132	Q13315	ATM_HUMAN	V	2132	ENSP00000278616:L2132V;ENSP00000388058:L2132V	ENSP00000278616:L2132V	L	+	1	2	ATM	107695937	1.000000	0.71417	0.983000	0.44433	0.852000	0.48524	1.534000	0.36051	1.236000	0.43740	0.655000	0.94253	CTA		0.299	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		29	50	0	0	0	1	0	29	50					G	108190727	C	G	108190727	3	3	243	1	0	0	0	0	1	0	0	0	1109	912	32	4	6564	4	ATM	11	108190727	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	94749693	108190727	26815789	22	4314											
CACNA2D4	93589	broad.mit.edu	37	12	1949958	1949958	+	Missense_Mutation	SNP	G	G	A	rs532757608	byFrequency	TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:1949958G>A	ENST00000382722.5	-	26	2860	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T833M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T808M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T769M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T694M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	833					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGTGCTTGCCGTCACCACCAT	0.597													G|||	2	0.000399361	0.0015	0	5008	,	,		15574	0		0	False		,,,				2504	0				Colon(2;101 179 21030 23310 28141)	uc021qsx.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2497-2499)aCg>aTg		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.							79	85	83					12																	1949958		2127	4234	6361	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1949958G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2498C>T	12.37:g.1949958G>A	ENSP00000372169:p.Thr833Met		Somatic				CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T697M|CACNA2D4_uc009zdr.2_Non-coding_Transcript	p.T833M	NM_172364	NP_758952	WXS	Illumina GAIIx	Phase_I	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	25	2729	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	833					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.2498C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801911	0.50315	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.69306	-0.39	4.71	3.79	0.43588	.	0.446483	0.23977	N	0.042708	T	0.75459	0.3852	M	0.84948	2.725	0.32370	N	0.556024	D;D	0.60575	0.988;0.981	P;P	0.51974	0.686;0.482	T	0.80677	-0.1276	10	0.34782	T	0.22	.	11.995	0.53196	0.0:0.1832:0.8168:0.0	.	833;833	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	769;833;833	ENSP00000372169:T833M	ENSP00000280663:T833M	T	-	2	0	CACNA2D4	1820219	1.000000	0.71417	0.015000	0.15790	0.525000	0.34531	5.233000	0.65337	1.060000	0.40578	0.561000	0.74099	ACG		0.597	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			37	37	0	0	0	1	0	37	37					A	1949958	G	A	1949958	3	1	243	1	0	0	0	0	1	0	0	0	2551	1145	40	1	967	1	CACNA2D4	12	1949958	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		1949958	131901937	23	4315											
NAP1L1	4673	broad.mit.edu	37	12	76444373	76444373	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:76444373G>A	ENST00000261182.8	-	12	1483	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	NAP1L1_ENST00000431879.3_Missense_Mutation_p.R265C|NAP1L1_ENST00000549596.1_Missense_Mutation_p.R333C|NAP1L1_ENST00000547993.1_Missense_Mutation_p.R150C|NAP1L1_ENST00000548044.1_Missense_Mutation_p.R292C|NAP1L1_ENST00000542344.1_Missense_Mutation_p.R291C|NAP1L1_ENST00000393263.3_Missense_Mutation_p.R333C|NAP1L1_ENST00000535020.2_Missense_Mutation_p.R333C|NAP1L1_ENST00000552342.1_Missense_Mutation_p.R344C|NAP1L1_ENST00000547773.1_Missense_Mutation_p.R270C|NAP1L1_ENST00000544816.1_Missense_Mutation_p.R150C	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	333					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGGATTATACGCTCACGTAAA	0.343																																						uc001sxw.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(997-999)Cgt>Tgt		Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.							77	74	75					12																	76444373		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76444373G>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.997C>T	12.37:g.76444373G>A	ENSP00000261182:p.Arg333Cys		Somatic				NAP1L1_uc001sxz.2_Missense_Mutation_p.R264C|NAP1L1_uc010stz.1_Missense_Mutation_p.R150C|NAP1L1_uc001sxx.2_Missense_Mutation_p.R333C|NAP1L1_uc010sty.1_Missense_Mutation_p.R290C|NAP1L1_uc010sua.1_Missense_Mutation_p.R333C|NAP1L1_uc001syb.3_Missense_Mutation_p.R333C	p.R333C	NM_139207	NP_631946	WXS	Illumina GAIIx	Phase_I	P55209	NP1L1_HUMAN			11	1409	-		Colorectal(145;0.09)	333					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.997C>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687893	0.68271	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.65	5.65	0.86999	.	0.048459	0.85682	N	0.000000	T	0.49864	0.1582	L	0.49455	1.56	0.80722	D	1	B;B;B;B;B;B;B	0.33413	0.124;0.411;0.144;0.174;0.051;0.215;0.389	B;B;B;B;B;B;B	0.36244	0.092;0.12;0.068;0.12;0.22;0.1;0.083	T	0.52465	-0.8572	10	0.87932	D	0	.	19.7278	0.96172	0.0:0.0:1.0:0.0	.	333;291;344;333;265;270;333	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	C	333;327;333;265;270;150;291;333;333;150;344;292	ENSP00000261182:R333C;ENSP00000450236:R327C;ENSP00000376947:R333C;ENSP00000409795:R265C;ENSP00000448167:R270C;ENSP00000437507:R150C;ENSP00000444759:R291C;ENSP00000445008:R333C;ENSP00000447793:R333C;ENSP00000448007:R150C;ENSP00000447196:R344C;ENSP00000449649:R292C	ENSP00000261182:R333C	R	-	1	0	NAP1L1	74730640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.626000	0.74253	2.656000	0.90262	0.591000	0.81541	CGT		0.343	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		15	20	0	0	0	1	0	15	20					A	76444373	G	A	76444373	3	1	243	1	0	0	0	0	1	0	0	0	10156	1087	38	1	194	1	NAP1L1	12	76444373	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	74494415	76444373	57407522	24	4316											
ATXN2	6311	broad.mit.edu	37	12	111893961	111893961	+	Missense_Mutation	SNP	T	T	A	rs376508232		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:111893961T>A	ENST00000377617.3	-	23	3777	c.3616A>T	c.(3616-3618)Aca>Tca	p.T1206S	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.T943S|ATXN2_ENST00000542287.2_Missense_Mutation_p.T941S|ATXN2_ENST00000535949.1_Missense_Mutation_p.T899S|ATXN2_ENST00000608853.1_Missense_Mutation_p.T1046S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1206					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGGCAGGTGTCATGGAGGGT	0.587																																						uc001tsj.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3616-3618)Aca>Tca		Homo sapiens ataxin 2 (ATXN2), mRNA.							311	272	285					12																	111893961		2203	4300	6503	SO:0001583	missense	6311				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding	g.chr12:111893961T>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3616A>T	12.37:g.111893961T>A	ENSP00000366843:p.Thr1206Ser		Somatic				ATXN2_uc001tsh.3_Missense_Mutation_p.T941S|ATXN2_uc001tsi.3_Missense_Mutation_p.T899S|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.T207S	p.T1206S	NM_002973	NP_002964	WXS	Illumina GAIIx	Phase_I	Q99700	ATX2_HUMAN			22	3778	-			1206					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3616A>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.151881	0.78001	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.70282	-0.47	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.997;0.993;0.999;0.998	D;D;D;D;D	0.80764	0.987;0.97;0.956;0.994;0.987	T	0.66316	-0.5954	10	0.07325	T	0.83	-11.9859	16.4101	0.83708	0.0:0.0:0.0:1.0	.	207;1206;899;941;943	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	S	261;943;1206;207;941;899;131	ENSP00000366843:T1206S	ENSP00000366843:T1206S	T	-	1	0	ATXN2	110378344	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.345000	0.79337	2.280000	0.76307	0.460000	0.39030	ACA		0.587	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		98	126	0	0	0	1	0	98	126					A	111893961	T	A	111893961	3	1	243	1	0	0	0	0	1	0	0	0	1211	1667	58	5	337	5	ATXN2	12	111893961	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	35449588	111893961	21957934	25	4317											
OR11H12	440153	broad.mit.edu	37	14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:19378084G>T	ENST00000550708.1	+	1	563	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	164						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(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488																																						uc010tkp.2																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(490-492)tGg>tTg		Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.							149	163	159					14																	19378084		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378084G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.491G>T	14.37:g.19378084G>T	ENSP00000449002:p.Trp164Leu		Somatic					p.W164L	NM_001013354	NP_001013372	WXS	Illumina GAIIx	Phase_I	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	491	+	all_cancers(95;0.00108)		164						Missense_Mutation	SNP	ENST00000550708.1	37	c.491G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.770733	0.31320	.	.	ENSG00000257115	ENST00000550708	T	0.58210	0.35	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002208	T	0.68924	0.3054	M	0.85630	2.765	0.26265	N	0.978514	D	0.89917	1.0	D	0.97110	1.0	T	0.74352	-0.3693	9	0.66056	D	0.02	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	164	B2RN74	O11HC_HUMAN	L	164	ENSP00000449002:W164L	ENSP00000449002:W164L	W	+	2	0	CR383656.1	18448084	0.134000	0.22483	0.963000	0.40424	0.194000	0.23727	1.020000	0.30027	0.619000	0.30197	0.064000	0.15345	TGG		0.488	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		19	123	0	0	0	1	0	19	123					T	19378084	G	T	19378084	3	4	243	1	0	0	0	0	1	0	0	0	10927	1357	47	4	493	4	OR11H12	14	19378084	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		19378084	87971456	26	4318											
C14orf106	55320	broad.mit.edu	37	14	45693947	45693947	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:45693947delT	ENST00000310806.4	-	11	2301	c.1843delA	c.(1843-1845)acafs	p.T616fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	616					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTTCAGTTGTCTCTTTAATT	0.294																																						uc001wwf.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(1843-1845)acafs		Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.							39	40	40					14																	45693947		2197	4295	6492	SO:0001589	frameshift_variant	55320				CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693947delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1843delA	14.37:g.45693947delT	ENSP00000309790:p.Thr616fs		Somatic					p.T615fs	NM_018353	NP_060823	WXS	Illumina GAIIx	Phase_I	Q6P0N0	M18BP_HUMAN			10	2302	-			615					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.1843delA	CCDS9684.1																																																																																				0.294	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			25	19						25	19	---	---	---	---	-	45693947	T	-	45693947	7	5	243	1	0	1	0	1	0	0	0	0	1738	1667	58	0	1583	0	C14orf106	14	45693947	Frame_Shift_Del	DEL	T	TCGA-EM-A22O-01A-11D-A17V-08	26315863	45693947	61655593	27	4319											
MAP1A	4130	broad.mit.edu	37	15	43815344	43815344	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:43815344C>G	ENST00000300231.5	+	4	2123	c.1673C>G	c.(1672-1674)cCa>cGa	p.P558R	MAP1A_ENST00000399453.1_Missense_Mutation_p.P558R|MAP1A_ENST00000382031.1_Missense_Mutation_p.P796R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	558					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATAAGCCATTCCCTCTA	0.537																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(1672-1674)cCa>cGa		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						72	75	74					15																	43815344		2064	4210	6274	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815344C>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1673C>G	15.37:g.43815344C>G	ENSP00000300231:p.Pro558Arg		Somatic					p.P558R	NM_002373	NP_002364	WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	2140	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	558					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1673C>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660648	0.00772	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.46063	0.88;0.88;0.88	4.85	2.98	0.34508	.	.	.	.	.	T	0.33585	0.0868	M	0.63428	1.95	0.09310	N	1	B	0.28178	0.202	B	0.24701	0.055	T	0.26608	-1.0098	9	0.15499	T	0.54	0.1456	4.852	0.13542	0.1505:0.6042:0.0:0.2453	.	558	P78559	MAP1A_HUMAN	R	796;558;558;558	ENSP00000371462:P796R;ENSP00000382380:P558R;ENSP00000300231:P558R	ENSP00000300231:P558R	P	+	2	0	MAP1A	41602636	0.001000	0.12720	0.071000	0.20095	0.001000	0.01503	1.602000	0.36783	0.643000	0.30638	-0.229000	0.12294	CCA		0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		53	48	0	0	0	1	0	53	48					G	43815344	C	G	43815344	3	3	243	1	0	0	0	0	1	0	0	0	9227	594	21	4	1675	4	MAP1A	15	43815344	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		43815344	58716048	28	4320											
CCPG1	9236	broad.mit.edu	37	15	55664157	55664157	+	Silent	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:55664157A>G	ENST00000310958.6	-	6	838	c.540T>C	c.(538-540)gcT>gcC	p.A180A	MIR628_ENST00000385229.1_RNA|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Silent_p.A180A|CCPG1_ENST00000569205.1_Silent_p.A180A|CCPG1_ENST00000442196.3_Silent_p.A180A	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	180	Interaction with MCF2L and SRC. {ECO:0000250}.|Poly-Arg.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCTTCTTCCTAGCACGGCGTC	0.433																																						uc002acy.3																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(538-540)gcT>gcC		Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.							86	81	82					15																	55664157		1862	4104	5966	SO:0001819	synonymous_variant	9236				cell cycle	integral to membrane		g.chr15:55664157A>G	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.540T>C	15.37:g.55664157A>G			Somatic				CCPG1_uc002acu.2_Silent_p.A36A|CCPG1_uc002acz.2_Silent_p.A180A|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_Silent_p.A180A|CCPG1_uc010bfk.2_Silent_p.A180A|CCPG1_uc002acv.2_Silent_p.A180A	p.A180A	NM_001204450	NP_001191379	WXS	Illumina GAIIx	Phase_I	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	12	1957	-			180			Interaction with MCF2L and SRC (By similarity).|Poly-Arg.		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	ENST00000310958.6	37	c.540T>C	CCDS42039.1																																																																																				0.433	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		3	46	0	0	0	1	0	3	46					G	55664157	A	G	55664157	2	3	243	1	0	0	0	0	0	0	0	1	2938	407	15	3		3	CCPG1	15	55664157	Silent	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	11848813	55664157	46867235	29	4321											
DNAH3	55567	broad.mit.edu	37	16	20975172	20975172	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:20975172C>T	ENST00000261383.3	-	53	10033	c.10034G>A	c.(10033-10035)cGc>cAc	p.R3345H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3345					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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTACTTGATGCGCAGATTCAG	0.488																																						uc010vbe.2																			0		p.R3345C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10033-10035)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							173	132	146					16																	20975172		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975172C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10034G>A	16.37:g.20975172C>T	ENSP00000261383:p.Arg3345His		Somatic				DNAH3_uc010vbd.2_Missense_Mutation_p.R780H	p.R3345H	NM_017539	NP_060009	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	10034	-			3345					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10034G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867581	0.51588	.	.	ENSG00000158486	ENST00000261383	T	0.76968	-1.06	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92741	0.6208	10	0.87932	D	0	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	3345	Q8TD57	DYH3_HUMAN	H	3345	ENSP00000261383:R3345H	ENSP00000261383:R3345H	R	-	2	0	DNAH3	20882673	1.000000	0.71417	0.157000	0.22605	0.008000	0.06430	7.818000	0.86416	2.734000	0.93682	0.563000	0.77884	CGC		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		52	86	0	0	0	1	0	52	86					T	20975172	C	T	20975172	3	4	243	1	0	0	0	0	1	0	0	0	4603	768	27	1	2355	1	DNAH3	16	20975172	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08		20975172	69379581	30	4322											
LCMT1	51451	broad.mit.edu	37	16	25182127	25182127	+	Splice_Site	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:25182127G>A	ENST00000399069.3	+	9	1039		c.e9+1		LCMT1_ENST00000572869.1_Intron|LCMT1_ENST00000380966.4_Splice_Site	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1						C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAGTGAGCAGGTATGGGGTTG	0.473																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			0											c.e9+1		Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	L-Leucine(DB00149)						138	139	139					16																	25182127		2025	4191	6216	SO:0001630	splice_region_variant	51451						S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding	g.chr16:25182127G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.884+1G>A	16.37:g.25182127G>A			Somatic				LCMT1_uc002dny.1_Splice_Site_p.R240_splice	p.R295_splice	NM_016309	NP_057393	WXS	Illumina GAIIx	Phase_I	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	9	1042	+			295					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Splice_Site	SNP	ENST00000399069.3	37	c.884_splice	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818652	0.71028	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LCMT1	25089628	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	.		0.473	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309	Intron	32	54	0	0	0	1	0	32	54					A	25182127	G	A	25182127	5	1	243	1	0	0	0	0	0	0	1	0	8678	1275	44	2	919	2	LCMT1	16	25182127	Splice_Site	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	4206955	25182127	65172626	31	4323											
KIAA1632	57724	broad.mit.edu	37	18	43519707	43519707	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:43519707T>C	ENST00000282041.5	-	10	1992	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	653					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						GTCACTTACATAACCAAGAGT	0.388																																						uc002lbm.3																			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.(1957-1959)tAt>tGt		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							80	72	75					18																	43519707		1899	4125	6024	SO:0001583	missense	57724				autophagy			g.chr18:43519707T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1958A>G	18.37:g.43519707T>C	ENSP00000282041:p.Tyr653Cys		Somatic				EPG5_uc002lbo.1_Missense_Mutation_p.Y653C	p.Y653C	NM_020964	NP_066015	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			9	2058	-			653					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1958A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508932	0.44660	.	.	ENSG00000152223	ENST00000282041	T	0.13420	2.59	5.4	5.4	0.78164	.	0.768841	0.12691	N	0.447191	T	0.36853	0.0982	M	0.63843	1.955	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.73380	0.961;0.98	T	0.03483	-1.1032	10	0.87932	D	0	-13.4881	15.423	0.75028	0.0:0.0:0.0:1.0	.	653;653	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	C	653	ENSP00000282041:Y653C	ENSP00000282041:Y653C	Y	-	2	0	EPG5	41773705	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	7.318000	0.79029	2.037000	0.60232	0.379000	0.24179	TAT		0.388	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	25	0	0	0	1	0	9	25					C	43519707	T	C	43519707	3	2	243	1	0	0	0	0	1	0	0	0	8249	1406	49	3	5921	3	KIAA1632	18	43519707	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		43519707	34557541	32	4324											
ZNF532	55205	broad.mit.edu	37	18	56587101	56587101	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:56587101A>T	ENST00000336078.4	+	4	2358	c.1582A>T	c.(1582-1584)Aac>Tac	p.N528Y	ZNF532_ENST00000591808.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591230.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000589288.1_Missense_Mutation_p.N528Y|ZNF532_ENST00000591083.1_Missense_Mutation_p.N528Y	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	528					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCCAACCTTAACCTTTTGCC	0.542																																						uc002lho.3																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1582-1584)Aac>Tac		Homo sapiens zinc finger protein 532 (ZNF532), mRNA.							40	36	37					18																	56587101		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587101A>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1582A>T	18.37:g.56587101A>T	ENSP00000338217:p.Asn528Tyr		Somatic				ZNF532_uc002lhp.3_Missense_Mutation_p.N526Y|ZNF532_uc010xeg.2_Missense_Mutation_p.N528Y|ZNF532_uc002lhr.3_Missense_Mutation_p.N526Y|ZNF532_uc002lhs.3_Missense_Mutation_p.N526Y	p.N528Y	NM_018181	NP_060651	WXS	Illumina GAIIx	Phase_I	Q9HCE3	ZN532_HUMAN			3	2129	+			528					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1582A>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	15.70	2.911193	0.52439	.	.	ENSG00000074657	ENST00000336078	T	0.01902	4.57	5.6	5.6	0.85130	.	0.046631	0.85682	D	0.000000	T	0.10165	0.0249	M	0.63843	1.955	0.49483	D	0.999799	D	0.76494	0.999	D	0.66196	0.942	T	0.00503	-1.1701	10	0.87932	D	0	-39.3616	14.8516	0.70300	1.0:0.0:0.0:0.0	.	528	Q9HCE3	ZN532_HUMAN	Y	528	ENSP00000338217:N528Y	ENSP00000338217:N528Y	N	+	1	0	ZNF532	54738081	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.224000	0.72265	2.151000	0.67156	0.445000	0.29226	AAC		0.542	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		4	45	0	0	0	1	0	4	45					T	56587101	A	T	56587101	3	4	243	1	0	0	0	0	1	0	0	0	17969	362	13	5	1584	5	ZNF532	18	56587101	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	13067394	56587101	21490147	33	4325											
CDH19	28513	broad.mit.edu	37	18	64197108	64197108	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:64197108C>T	ENST00000540086.1	-	9	1678	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	CDH19_ENST00000262150.2_Missense_Mutation_p.V478I	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	587	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTTCACAAACATAAGTCTCA	0.328																																						uc002lkc.1																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(1432-1434)Gtt>Att		Homo sapiens cadherin 19, type 2 (CDH19), mRNA.							120	118	119					18																	64197108		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197108C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1432G>A	18.37:g.64197108C>T	ENSP00000439593:p.Val478Ile		Somatic				CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.V478I	p.V478I	NM_021153	NP_066976	WXS	Illumina GAIIx	Phase_I	Q9H159	CAD19_HUMAN			8	1570	-		Esophageal squamous(42;0.0132)	478			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1432G>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033732	0.35893	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.58652	0.6;0.32	5.53	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.121482	0.56097	N	0.000030	T	0.72867	0.3514	M	0.71206	2.165	0.38122	D	0.937896	P;D	0.89917	0.955;1.0	P;D	0.91635	0.671;0.999	T	0.74973	-0.3481	10	0.35671	T	0.21	.	13.0679	0.59045	0.0:0.921:0.0:0.079	.	478;478	F5H1K0;Q9H159	.;CAD19_HUMAN	I	478	ENSP00000262150:V478I;ENSP00000439593:V478I	ENSP00000262150:V478I	V	-	1	0	CDH19	62348088	0.990000	0.36364	0.924000	0.36721	0.984000	0.73092	2.675000	0.46875	1.339000	0.45563	0.650000	0.86243	GTT		0.328	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		27	27	0	0	0	1	0	27	27					T	64197108	C	T	64197108	3	4	243	1	0	0	0	0	1	0	0	0	3104	478	17	2	902	2	CDH19	18	64197108	Missense_Mutation	SNP	C	TCGA-EM-A22O-01A-11D-A17V-08	7610007	64197108	13880140	34	4326											
C19orf35	374872	broad.mit.edu	37	19	2276472	2276472	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:2276472G>A	ENST00000342063.3	-	4	722	c.629C>T	c.(628-630)gCg>gTg	p.A210V		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	210								p.A210E(1)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GGGCACGTCCGCCCCGGGCTT	0.706																																						uc002lvn.2																			1	Substitution - Missense(1)	p.A210E(2)	lung(1)	large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(628-630)gCg>gTg		Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.							7	9	8					19																	2276472		1946	3753	5699	SO:0001583	missense	374872							g.chr19:2276472G>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.629C>T	19.37:g.2276472G>A	ENSP00000345102:p.Ala210Val		Somatic				SPPL2B_uc010dsw.1_Intron	p.A210V	NM_198532	NP_940934	WXS	Illumina GAIIx	Phase_I	Q6ZS72	CS035_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)	3	729	-			210						Missense_Mutation	SNP	ENST00000342063.3	37	c.629C>T	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003843	0.35320	.	.	ENSG00000188305	ENST00000342063	T	0.15139	2.45	2.82	1.76	0.24704	.	.	.	.	.	T	0.11750	0.0286	L	0.50333	1.59	0.09310	N	1	P	0.36974	0.576	B	0.20955	0.032	T	0.17048	-1.0382	9	0.42905	T	0.14	.	6.4182	0.21728	0.1485:0.0:0.8515:0.0	.	210	Q6ZS72	CS035_HUMAN	V	210	ENSP00000345102:A210V	ENSP00000345102:A210V	A	-	2	0	C19orf35	2227472	0.002000	0.14202	0.004000	0.12327	0.285000	0.27093	1.153000	0.31676	0.381000	0.24851	0.561000	0.74099	GCG		0.706	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		4	22	0	0	0	1	0	4	22					A	2276472	G	A	2276472	3	1	243	1	0	0	0	0	1	0	0	0	1920	1087	38	1	796	1	C19orf35	19	2276472	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		2276472	56852511	35	4327											
CYP4F11	57834	broad.mit.edu	37	19	16038119	16038119	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:16038119T>C	ENST00000402119.4	-	4	854	c.428A>G	c.(427-429)aAg>aGg	p.K143R	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Missense_Mutation_p.K143R|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K143R	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCGGCTCCACTTGTCACCACC	0.537																																						uc002nbu.2																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(427-429)aAg>aGg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.							86	86	86					19																	16038119		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038119T>C	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.428A>G	19.37:g.16038119T>C	ENSP00000384588:p.Lys143Arg		Somatic				CYP4F11_uc010eab.1_Missense_Mutation_p.K143R|CYP4F11_uc002nbt.2_Missense_Mutation_p.K143R	p.K143R	NM_001128932	NP_067010	WXS	Illumina GAIIx	Phase_I	Q9HBI6	CP4FB_HUMAN			4	464	-			143						Missense_Mutation	SNP	ENST00000402119.4	37	c.428A>G	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	14.90	2.674288	0.47781	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.68331	-0.32;-0.32;-0.32	2.57	2.57	0.30868	.	0.247626	0.31301	U	0.007900	T	0.75354	0.3838	M	0.78049	2.395	0.30838	N	0.735966	D;P	0.53885	0.963;0.828	P;P	0.58780	0.845;0.737	T	0.75230	-0.3391	10	0.66056	D	0.02	.	8.6566	0.34066	0.0:0.0:0.0:1.0	.	143;143	F8W978;Q9HBI6	.;CP4FB_HUMAN	R	143	ENSP00000384588:K143R;ENSP00000248041:K143R;ENSP00000319859:K143R	ENSP00000248041:K143R	K	-	2	0	CYP4F11	15899119	0.940000	0.31905	1.000000	0.80357	0.559000	0.35586	1.132000	0.31418	1.178000	0.42870	0.248000	0.18094	AAG		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		69	73	0	0	0	1	0	69	73					C	16038119	T	C	16038119	3	2	243	1	0	0	0	0	1	0	0	0	4186	1609	56	3	1182	3	CYP4F11	19	16038119	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08	13761647	16038119	43090864	36	4328											
U2AF2	11338	broad.mit.edu	37	19	56166505	56166505	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56166505A>G	ENST00000308924.4	+	1	75	c.35A>G	c.(34-36)aAc>aGc	p.N12S	U2AF2_ENST00000450554.2_Missense_Mutation_p.N12S			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	12	Required for interaction with PRPF19. {ECO:0000269|PubMed:21536736}.				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)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGCAGCTCAACGAGAATAAA	0.682																																						uc002qlu.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(34-36)aAc>aGc		Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.							20	27	24					19																	56166505		2193	4277	6470	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding	g.chr19:56166505A>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.35A>G	19.37:g.56166505A>G	ENSP00000307863:p.Asn12Ser		Somatic				U2AF2_uc002qlt.3_Missense_Mutation_p.N12S	p.N12S	NM_007279	NP_009210	WXS	Illumina GAIIx	Phase_I	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	0	1090	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	12					Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.35A>G	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	A	3.081	-0.189060	0.06299	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.08984	3.03;3.05	3.58	3.58	0.41010	.	0.148244	0.41396	D	0.000887	T	0.02533	0.0077	N	0.01168	-0.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38735	-0.9647	10	0.07030	T	0.85	-16.5984	11.6025	0.51012	1.0:0.0:0.0:0.0	.	12;12	P26368;P26368-2	U2AF2_HUMAN;.	S	12	ENSP00000307863:N12S;ENSP00000388475:N12S	ENSP00000307863:N12S	N	+	2	0	U2AF2	60858317	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.152000	0.50677	1.639000	0.50556	0.402000	0.26972	AAC		0.682	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		8	34	0	0	0	1	0	8	34					G	56166505	A	G	56166505	3	3	243	1	0	0	0	0	1	0	0	0	16820	43	2	3	37	3	U2AF2	19	56166505	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	40128386	56166505	2962478	37	4329											
NLRP8	126205	broad.mit.edu	37	19	56467090	56467090	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56467090G>A	ENST00000291971.3	+	3	1737	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G556R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	556					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTCACATGGGACTTTTCTT	0.463																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1666-1668)Gga>Aga		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							72	68	69					19																	56467090		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467090G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1666G>A	19.37:g.56467090G>A	ENSP00000291971:p.Gly556Arg		Somatic				NLRP8_uc010etg.3_Missense_Mutation_p.G556R	p.G556R	NM_176811	NP_789781	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	1737	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	556					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1666G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.278	-0.365396	0.05069	.	.	ENSG00000179709	ENST00000291971	D	0.83914	-1.78	2.04	2.04	0.26737	.	.	.	.	.	D	0.84768	0.5545	M	0.68952	2.095	0.23113	N	0.998278	D;D	0.64830	0.994;0.97	P;P	0.54889	0.763;0.665	T	0.73088	-0.4093	9	0.42905	T	0.14	.	7.6199	0.28179	0.0:0.0:1.0:0.0	.	556;556	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	556	ENSP00000291971:G556R	ENSP00000291971:G556R	G	+	1	0	NLRP8	61158902	0.490000	0.26012	0.099000	0.21106	0.128000	0.20619	3.539000	0.53604	1.453000	0.47775	0.514000	0.50259	GGA		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		31	37	0	0	0	1	0	31	37					A	56467090	G	A	56467090	3	1	243	1	0	0	0	0	1	0	0	0	10483	1233	43	2	1676	2	NLRP8	19	56467090	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08	300585	56467090	2661893	38	4330											
SULF2	55959	broad.mit.edu	37	20	46290580	46290580	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr20:46290580T>A	ENST00000359930.4	-	18	3282	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	SULF2_ENST00000467815.1_Missense_Mutation_p.M811L|SULF2_ENST00000484875.1_Missense_Mutation_p.M811L|SULF2_ENST00000361612.4_Missense_Mutation_p.M811L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	811					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						CTCAGCTCCATGAGCTGTACG	0.532																																						uc002xto.3																			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.(2431-2433)Atg>Ttg		Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.							176	135	149					20																	46290580		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	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	g.chr20:46290580T>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2431A>T	20.37:g.46290580T>A	ENSP00000353007:p.Met811Leu		Somatic				SULF2_uc002xtr.3_Missense_Mutation_p.M811L|SULF2_uc002xtq.3_Missense_Mutation_p.M811L|SULF2_uc010zyd.2_Missense_Mutation_p.M90L	p.M811L	NM_018837	NP_061325	WXS	Illumina GAIIx	Phase_I	Q8IWU5	SULF2_HUMAN			17	2761	-			811					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2431A>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517226	0.85495	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.36	5.36	0.76844	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.42632	1.34	0.50313	D	0.999864	D;P	0.59357	0.985;0.882	D;P	0.74674	0.984;0.869	T	0.12268	-1.0554	10	0.33141	T	0.24	-27.9805	15.3622	0.74487	0.0:0.0:0.0:1.0	.	811;811	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	L	811;811;811;230;811	ENSP00000353007:M811L;ENSP00000418290:M811L;ENSP00000354662:M811L;ENSP00000418442:M811L	ENSP00000353007:M811L	M	-	1	0	SULF2	45723987	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.168000	0.64978	2.028000	0.59812	0.379000	0.24179	ATG		0.532	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		51	59	0	0	0	1	0	51	59					A	46290580	T	A	46290580	3	1	243	1	0	0	0	0	1	0	0	0	15370	1464	51	5	197	5	SULF2	20	46290580	Missense_Mutation	SNP	T	TCGA-EM-A22O-01A-11D-A17V-08		46290580	16734940	39	4331											
THAP7	80764	broad.mit.edu	37	22	21356155	21356155	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:21356155G>A	ENST00000215742.4	-	1	220	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R16C	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	16					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGCGTCTCGCGCGTGTCCCGT	0.697																																						uc002ztr.1																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(46-48)Cgc>Tgc		Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.							5	7	6					22																	21356155		2086	4136	6222	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21356155G>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.46C>T	22.37:g.21356155G>A	ENSP00000215742:p.Arg16Cys		Somatic				THAP7_uc002zts.1_Missense_Mutation_p.R16C|DQ574263_uc021wlz.1_5'Flank|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	p.R16C	NM_001008695	NP_085050	WXS	Illumina GAIIx	Phase_I	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		1	76	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	16					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.46C>T	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142807	0.94560	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96619	-4.07;-4.07	5.54	5.54	0.83059	Zinc finger, C2CH-type (3);	0.117832	0.35040	N	0.003488	D	0.97176	0.9077	M	0.77103	2.36	0.52501	D	0.999952	D	0.69078	0.997	P	0.57244	0.816	D	0.97210	0.9870	10	0.87932	D	0	-15.5724	11.9817	0.53123	0.0:0.0:0.8269:0.1731	.	16	Q9BT49	THAP7_HUMAN	C	16	ENSP00000215742:R16C;ENSP00000382084:R16C	ENSP00000215742:R16C	R	-	1	0	THAP7	19686155	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	2.853000	0.48317	2.605000	0.88082	0.563000	0.77884	CGC		0.697	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		4	2	0	0	0	1	0	4	2					A	21356155	G	A	21356155	3	1	243	1	0	0	0	0	1	0	0	0	15846	1087	38	1	899	1	THAP7	22	21356155	Missense_Mutation	SNP	G	TCGA-EM-A22O-01A-11D-A17V-08		21356155	29948411	40	4332											
ZNRF3	84133	broad.mit.edu	37	22	29445437	29445437	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:29445437A>G	ENST00000544604.2	+	8	1443	c.1268A>G	c.(1267-1269)cAc>cGc	p.H423R	ZNRF3_ENST00000406323.3_Missense_Mutation_p.H323R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.H323R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.H323R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	423					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCACCCCTCCACCTGGACCAC	0.697																																						uc003aeg.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1267-1269)cAc>cGc		Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.							29	35	33					22																	29445437		2075	4194	6269	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29445437A>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1268A>G	22.37:g.29445437A>G	ENSP00000443824:p.His423Arg		Somatic				ZNRF3_uc021wnq.1_Missense_Mutation_p.H323R	p.H423R	NM_001206998	NP_001193927	WXS	Illumina GAIIx	Phase_I	Q9ULT6	ZNRF3_HUMAN			7	1268	+			423					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1268A>G	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.233197	0.39498	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.53	5.53	0.82687	.	0.205290	0.51477	D	0.000097	T	0.76716	0.4026	L	0.59436	1.845	0.40295	D	0.978545	B	0.13145	0.007	B	0.15870	0.014	T	0.74627	-0.3602	10	0.56958	D	0.05	-0.7553	10.9339	0.47235	0.8433:0.1567:0.0:0.0	.	423	Q9ULT6	ZNRF3_HUMAN	R	423;323;130;323;323	ENSP00000443824:H423R;ENSP00000328614:H323R;ENSP00000384456:H323R;ENSP00000384553:H323R	ENSP00000328614:H323R	H	+	2	0	ZNRF3	27775437	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.403000	0.59729	2.097000	0.63578	0.533000	0.62120	CAC		0.697	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		20	37	0	0	0	1	0	20	37					G	29445437	A	G	29445437	3	3	243	1	0	0	0	0	1	0	0	0	18210	159	6	3	994	3	ZNRF3	22	29445437	Missense_Mutation	SNP	A	TCGA-EM-A22O-01A-11D-A17V-08	8089282	29445437	21859129	41	4333											
USP48	84196	broad.mit.edu	37	1	22033083	22033083	+	Splice_Site	SNP	C	C	G			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:22033083C>G	ENST00000308271.9	-	17	2737		c.e17-1		USP48_ENST00000529637.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000400301.1_Splice_Site	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTCTAAAATCTGAAAGAGAA	0.438																																						uc010odq.2																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e17-1		Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.							97	96	96					1																	22033083		2203	4300	6503	SO:0001630	splice_region_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22033083C>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2089-1G>C	1.37:g.22033083C>G			Somatic				USP48_uc001bfa.3_Splice_Site_p.I235_splice|USP48_uc001bfb.3_Splice_Site_p.I697_splice|USP48_uc009vqc.3_Splice_Site_p.I631_splice|USP48_uc001bfc.3_Splice_Site_p.I697_splice|USP48_uc001bfd.1_5'Flank	p.I709_splice	NM_032236	NP_115612	WXS	Illumina GAIIx	Phase_I	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	17	2363	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	697					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Splice_Site	SNP	ENST00000308271.9	37	c.2125_splice	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797842	0.70567	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	.	.	.	5.79	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3634	0.66789	0.0:0.9277:0.0:0.0723	.	.	.	.	.	-1	.	.	.	-	.	.	USP48	21905670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.091000	0.64505	2.745000	0.94114	0.557000	0.71058	.		0.438	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	Intron	31	76	0	0	0	1	0	31	76					G	22033083	C	G	22033083	5	3	244	1	0	0	0	0	0	0	1	0	17076	927	32	4	1063	4	USP48	1	22033083	Splice_Site	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		22033083	227217538	1	4334											
TIE1	7075	broad.mit.edu	37	1	43770796	43770796	+	Silent	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:43770796G>A	ENST00000372476.3	+	2	412	c.333G>A	c.(331-333)gcG>gcA	p.A111A	TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000441333.2_Silent_p.A111A|TIE1_ENST00000538015.1_Silent_p.A111A	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	111					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCTGGGGCGCGGCGCACGC	0.697																																						uc001ciu.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(331-333)gcG>gcA		Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.							26	29	28					1																	43770796		2200	4298	6498	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770796G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.333G>A	1.37:g.43770796G>A			Somatic				TIE1_uc010okd.2_Silent_p.A111A|TIE1_uc010oke.2_Silent_p.A66A|TIE1_uc009vwq.3_Silent_p.A111A|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010oka.2_Silent_p.A111A|TIE1_uc010okb.2_Silent_p.A111A|TIE1_uc010okc.2_Silent_p.A111A	p.A111A	NM_005424	NP_005415	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			1	510	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	111					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.333G>A	CCDS482.1																																																																																				0.697	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		8	24	0	0	0	1	0	8	24					A	43770796	G	A	43770796	2	1	244	1	0	0	0	0	0	0	0	1	15890	1074	38	1		1	TIE1	1	43770796	Silent	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08	21737713	43770796	205479825	2	4335											
C1orf141	400757	broad.mit.edu	37	1	67592860	67592860	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:67592860T>C	ENST00000371007.2	-	3	173	c.64A>G	c.(64-66)Aga>Gga	p.R22G	C1orf141_ENST00000371006.1_Missense_Mutation_p.R22G|C1orf141_ENST00000544837.1_Missense_Mutation_p.R22G	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	22										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTGTTCTTCTGGCCAAGATT	0.313																																						uc001ddl.1																			0		p.A21S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(64-66)Aga>Gga		Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.							172	170	171					1																	67592860		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67592860T>C	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.64A>G	1.37:g.67592860T>C	ENSP00000360046:p.Arg22Gly		Somatic				C1orf141_uc001ddm.1_Missense_Mutation_p.R22G|C1orf141_uc001ddn.1_Non-coding_Transcript	p.R22G	NM_001013674	NP_001013696	WXS	Illumina GAIIx	Phase_I	Q5JVX7	CA141_HUMAN			1	175	-			22					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.64A>G	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310116	0.40895	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000371004;ENST00000544837;ENST00000371005;ENST00000448166;ENST00000371003	T;T;T	0.29917	1.55;1.55;1.55	4.28	-4.83	0.03161	.	1.237340	0.06154	N	0.674748	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	1	P	0.41910	0.764	B	0.33960	0.173	T	0.28808	-1.0032	10	0.66056	D	0.02	3.3679	10.2492	0.43360	0.0:0.0855:0.6424:0.2721	.	22	Q5JVX7	CA141_HUMAN	G	22	ENSP00000360046:R22G;ENSP00000360045:R22G;ENSP00000444018:R22G	ENSP00000360042:R22G	R	-	1	2	C1orf141	67365448	0.003000	0.15002	0.000000	0.03702	0.030000	0.12068	0.024000	0.13555	-0.868000	0.04058	0.528000	0.53228	AGA		0.313	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		21	84	0	0	0	1	0	21	84					C	67592860	T	C	67592860	3	2	244	1	0	0	0	0	1	0	0	0	2001	1588	55	3	1162	3	C1orf141	1	67592860	Missense_Mutation	SNP	T	TCGA-EM-A22P-01A-11D-A19J-08	23822064	67592860	181657761	3	4336											
ABCA4	24	broad.mit.edu	37	1	94512588	94512588	+	Silent	SNP	T	T	C			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:94512588T>C	ENST00000370225.3	-	19	2891	c.2805A>G	c.(2803-2805)gtA>gtG	p.V935V	ABCA4_ENST00000535735.1_Silent_p.V861V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	935	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		V -> A (in STGD1). {ECO:0000269|PubMed:11527935}.		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)		CAAAAATCTTTACCAGATTCT	0.498																																						uc001dqh.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.(2803-2805)gtA>gtG		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.							142	154	150					1																	94512588		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512588T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2805A>G	1.37:g.94512588T>C			Somatic				ABCA4_uc010otn.1_Silent_p.V861V	p.V935V	NM_000350	NP_000341	WXS	Illumina GAIIx	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	18	2909	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	935		V -> A (in STGD1).	ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2805A>G	CCDS747.1																																																																																				0.498	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		49	175	0	0	0	1	0	49	175					C	94512588	T	C	94512588	2	2	244	1	0	0	0	0	0	0	0	1	34	1741	61	3		3	ABCA4	1	94512588	Silent	SNP	T	TCGA-EM-A22P-01A-11D-A19J-08	26919728	94512588	154738033	4	4337											
RALGPS2	55103	broad.mit.edu	37	1	178846740	178846740	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr1:178846740A>G	ENST00000367635.3	+	9	1053	c.715A>G	c.(715-717)Att>Gtt	p.I239V	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.I239V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	239	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTTCGAATAATTTCTGATTT	0.338																																						uc001glz.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(715-717)Att>Gtt		Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.							59	60	60					1																	178846740		2203	4299	6502	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178846740A>G	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.715A>G	1.37:g.178846740A>G	ENSP00000356607:p.Ile239Val		Somatic				RALGPS2_uc001gly.1_Missense_Mutation_p.I239V|RALGPS2_uc010pnb.2_Missense_Mutation_p.I239V	p.I239V	NM_152663	NP_689876	WXS	Illumina GAIIx	Phase_I	Q86X27	RGPS2_HUMAN			8	1053	+			239			Ras-GEF.		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.715A>G	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770490	0.90108	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.35236	1.32;1.32;1.32	5.83	5.83	0.93111	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.104678	0.64402	D	0.000005	T	0.49881	0.1583	M	0.82716	2.605	0.80722	D	1	P;P	0.42973	0.796;0.627	P;P	0.44422	0.449;0.449	T	0.56306	-0.8001	10	0.52906	T	0.07	.	15.8536	0.78956	1.0:0.0:0.0:0.0	.	239;239	B7Z7B1;Q86X27	.;RGPS2_HUMAN	V	239;239;204	ENSP00000356607:I239V;ENSP00000356606:I239V;ENSP00000313613:I204V	ENSP00000313613:I204V	I	+	1	0	RALGPS2	177113363	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.226000	0.72624	0.459000	0.35465	ATT		0.338	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		9	35	0	0	0	1	0	9	35					G	178846740	A	G	178846740	3	3	244	1	0	0	0	0	1	0	0	0	13018	101	4	3	745	3	RALGPS2	1	178846740	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08	84334152	178846740	70403881	5	4338											
CCDC88A	55704	broad.mit.edu	37	2	55522862	55522862	+	Missense_Mutation	SNP	C	C	T	rs138449414	byFrequency	TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr2:55522862C>T	ENST00000436346.1	-	31	6263	c.5422G>A	c.(5422-5424)Gtg>Atg	p.V1808M	CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1807M|CCDC88A_ENST00000422883.2_Missense_Mutation_p.V309M|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1780M|CCDC88A_ENST00000413716.2_Splice_Site_p.V1733M	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1808					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTGAGATCACGCTGCTTGCA	0.423																																						uc002ryv.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(5419-5421)Gtg>Atg		Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL	0,4406		0,0,2203	175	151	159		5419,5338	5.4	1.0	2	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CCDC88A	NM_001135597.1,NM_018084.4	21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1807/1871,1780/1844	55522862	2,13004	2203	4300	6503	SO:0001583	missense	55704				DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55522862C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5422G>A	2.37:g.55522862C>T	ENSP00000410608:p.Val1808Met		Somatic				CCDC88A_uc010ypa.1_Splice_Site_p.S1732_splice|CCDC88A_uc010yoz.1_Missense_Mutation_p.V1780M|CCDC88A_uc002ryt.2_Missense_Mutation_p.V98M|CCDC88A_uc010fbw.2_Missense_Mutation_p.V309M|CCDC88A_uc002ryu.2_Missense_Mutation_p.V1062M|CCDC88A_uc002rys.3_Missense_Mutation_p.V765M|CCDC88A_uc002ryw.3_Missense_Mutation_p.V1091M|CCDC88A_uc010fby.1_Missense_Mutation_p.V659M	p.V1807M	NM_001135597	NP_001129069	WXS	Illumina GAIIx	Phase_I	Q3V6T2	GRDN_HUMAN			30	6261	-			1808					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5419G>A		.	.	.	.	.	.	.	.	.	.	C	15.35	2.808616	0.50421	0.0	2.33E-4	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.67523	1.65;1.37;1.87;-0.27;1.55;0.49	5.37	5.37	0.77165	.	0.160627	0.28436	U	0.015360	T	0.73713	0.3622	N	0.24115	0.695	0.54753	D	0.999988	B;D;D;D;D;D;D	0.89917	0.377;1.0;1.0;1.0;1.0;1.0;1.0	B;D;D;D;P;D;D	0.87578	0.009;0.998;0.996;0.994;0.904;0.998;0.998	T	0.76631	-0.2888	10	0.62326	D	0.03	-11.582	19.469	0.94954	0.0:1.0:0.0:0.0	.	1733;1780;1725;309;1808;1807;1779	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;.;GRDN_HUMAN;.;.	M	1807;1780;1808;309;825;1733;983	ENSP00000338728:V1807M;ENSP00000263630:V1780M;ENSP00000410608:V1808M;ENSP00000390012:V825M;ENSP00000404431:V1733M;ENSP00000405080:V983M	ENSP00000263630:V1780M	V	-	1	0	CCDC88A	55376366	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.142000	0.77339	2.649000	0.89929	0.655000	0.94253	GTG		0.423	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		27	89	0	0	0	1	0	27	89					T	55522862	C	T	55522862	3	4	244	1	0	0	0	0	1	0	0	0	2863	536	19	1	201	1	CCDC88A	2	55522862	Missense_Mutation	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		55522862	187676511	6	4339											
HIST1H2BF	8343	broad.mit.edu	37	6	26199951	26199951	+	Silent	SNP	C	C	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr6:26199951C>T	ENST00000359985.1	+	1	204	c.165C>T	c.(163-165)atC>atT	p.I55I	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	55					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACACCGGCATCTCATCCAAGG	0.567																																						uc003ngx.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(163-165)atC>atT		Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.							223	206	212					6																	26199951		2203	4300	6503	SO:0001819	synonymous_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199951C>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.165C>T	6.37:g.26199951C>T			Somatic				HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	p.I55I	NM_003522	NP_003517	WXS	Illumina GAIIx	Phase_I	P62807	H2B1C_HUMAN			0	165	+		all_hematologic(11;0.196)	55					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000359985.1	37	c.165C>T	CCDS4592.1																																																																																				0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		57	225	0	0	0	1	0	57	225					T	26199951	C	T	26199951	2	4	244	1	0	0	0	0	0	0	0	1	7145	903	32	2		2	HIST1H2BF	6	26199951	Silent	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		26199951	144915116	7	4340											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	64	0	0	0	1	0	18	64					T	140453136	A	T	140453136	3	4	244	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08		140453136	18685527	8	4341											
ATG2A	23130	broad.mit.edu	37	11	64679415	64679415	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr11:64679415G>A	ENST00000377264.3	-	9	1239	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	ATG2A_ENST00000421419.2_Missense_Mutation_p.A376V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	376					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)				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						GAGGGCTGAGGCCACACTGCT	0.652																																						uc001obx.3																			0				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.(1126-1128)gCc>gTc		Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.							65	57	60					11																	64679415		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64679415G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1127C>T	11.37:g.64679415G>A	ENSP00000366475:p.Ala376Val		Somatic					p.A376V	NM_015104	NP_055919	WXS	Illumina GAIIx	Phase_I	Q2TAZ0	ATG2A_HUMAN			8	1242	-			376					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1127C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910546	0.52439	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.06768	3.26;3.26	4.42	2.5	0.30297	.	0.425461	0.23840	N	0.044041	T	0.07234	0.0183	L	0.36672	1.1	0.21627	N	0.999611	B	0.20261	0.043	B	0.24701	0.055	T	0.28964	-1.0027	10	0.44086	T	0.13	.	7.4749	0.27369	0.0953:0.1701:0.7346:0.0	.	376	Q2TAZ0	ATG2A_HUMAN	V	376	ENSP00000410522:A376V;ENSP00000366475:A376V	ENSP00000227459:A376V	A	-	2	0	ATG2A	64435991	1.000000	0.71417	0.222000	0.23844	0.883000	0.51084	5.261000	0.65496	0.602000	0.29896	0.561000	0.74099	GCC		0.652	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	24	0	0	0	1	0	7	24					A	64679415	G	A	64679415	3	1	244	1	0	0	0	0	1	0	0	0	1093	1203	42	2	4821	2	ATG2A	11	64679415	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		64679415	70327101	9	4342											
TBK1	29110	broad.mit.edu	37	12	64891007	64891007	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr12:64891007G>A	ENST00000331710.5	+	18	2266	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	643					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TATTGAAGAAGAAGTATCAAA	0.308																																						uc001ssc.2																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1927-1929)Gaa>Aaa		Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.							101	99	100					12																	64891007		2202	4296	6498	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64891007G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1927G>A	12.37:g.64891007G>A	ENSP00000329967:p.Glu643Lys		Somatic					p.E643K	NM_013254	NP_037386	WXS	Illumina GAIIx	Phase_I	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	17	2086	+			643					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1927G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032308	0.93575	.	.	ENSG00000183735	ENST00000331710	T	0.20598	2.06	5.41	5.41	0.78517	.	0.124393	0.56097	D	0.000030	T	0.17023	0.0409	L	0.29908	0.895	0.80722	D	1	P	0.40970	0.734	B	0.34652	0.187	T	0.02925	-1.1093	9	.	.	.	-14.7948	19.561	0.95373	0.0:0.0:1.0:0.0	.	643	Q9UHD2	TBK1_HUMAN	K	643	ENSP00000329967:E643K	.	E	+	1	0	TBK1	63177274	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.902000	0.87389	2.710000	0.92621	0.491000	0.48974	GAA		0.308	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		7	113	0	0	0	1	0	7	113					A	64891007	G	A	64891007	3	1	244	1	0	0	0	0	1	0	0	0	15634	943	33	2	1993	2	TBK1	12	64891007	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		64891007	68960888	10	4343											
IL17D	53342	broad.mit.edu	37	13	21296003	21296003	+	Silent	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr13:21296003G>A	ENST00000304920.3	+	3	627	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	173					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		TCCCCGAGCCGGAGAAGGACG	0.716																																						uc001unm.3																			0				endometrium(1)|skin(1)	2						c.(517-519)ccG>ccA		Homo sapiens interleukin 17D (IL17D), mRNA.							36	36	36					13																	21296003		2180	4246	6426	SO:0001819	synonymous_variant	53342				inflammatory response	extracellular space	cytokine activity	g.chr13:21296003G>A	AY078238	CCDS9292.1	13q11	2008-07-18			ENSG00000172458	ENSG00000172458		"Interleukins and interleukin receptors"	5984	protein-coding gene	gene with protein product	"interleukin 27"	607587				12097364	Standard	NM_138284		Approved	IL-22, IL-27, IL-17D, IL27, FLJ30846	uc001unm.3	Q8TAD2	OTTHUMG00000016521	ENST00000304920.3:c.519G>A	13.37:g.21296003G>A			Somatic					p.P173P	NM_138284	NP_612141	WXS	Illumina GAIIx	Phase_I	Q8TAD2	IL17D_HUMAN		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)	2	627	+		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	173					B1AM69	Silent	SNP	ENST00000304920.3	37	c.519G>A	CCDS9292.1																																																																																				0.716	IL17D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044087.1	NM_138284		4	79	0	0	0	1	0	4	79					A	21296003	G	A	21296003	2	1	244	1	0	0	0	0	0	0	0	1	7637	1103	39	1		1	IL17D	13	21296003	Silent	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		21296003	93873875	11	4344											
AQP4	361	broad.mit.edu	37	18	24445624	24445624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr18:24445624C>T	ENST00000383168.4	-	1	158	c.30G>A	c.(28-30)tgG>tgA	p.W10*	AQP4_ENST00000581374.1_5'Flank|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_5'Flank|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	10					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GGACTTACCCCCACCGCCTTG	0.522																																						uc002kwa.3																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(28-30)tgG>tgA		Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.							121	123	122					18																	24445624		2203	4300	6503	SO:0001587	stop_gained	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24445624C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.30G>A	18.37:g.24445624C>T	ENSP00000372654:p.Trp10*		Somatic				CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron	p.W10*	NM_001650	NP_001641	WXS	Illumina GAIIx	Phase_I	P55087	AQP4_HUMAN			0	93	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		10					P78564	Nonsense_Mutation	SNP	ENST00000383168.4	37	c.30G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	37	6.522879	0.97633	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	.	.	.	4.8	4.8	0.61643	.	1.032150	0.07621	N	0.926977	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	15.0992	0.72258	0.0:0.8574:0.1426:0.0	.	.	.	.	X	10;10;17	.	ENSP00000372654:W10X	W	-	3	0	AQP4	22699622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.005000	0.49521	2.603000	0.88011	0.655000	0.94253	TGG		0.522	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		35	115	0	0	0	1	0	35	115					T	24445624	C	T	24445624	4	4	244	1	0	0	0	0	0	1	0	0	828	624	22	2	961	2	AQP4	18	24445624	Nonsense_Mutation	SNP	C	TCGA-EM-A22P-01A-11D-A19J-08		24445624	53631624	12	4345											
MUC16	94025	broad.mit.edu	37	19	9090520	9090520	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chr19:9090520G>T	ENST00000397910.4	-	1	1498	c.1295C>A	c.(1294-1296)aCt>aAt	p.T432N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	432	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						TGTATTCAAAGTTCCTTCTGT	0.488																																						uc002mkp.3																			0		p.T432T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1294-1296)aCt>aAt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							157	147	150					19																	9090520		1979	4170	6149	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090520G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1295C>A	19.37:g.9090520G>T	ENSP00000381008:p.Thr432Asn		Somatic					p.T432N	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	1499	-			432			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1295C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.324	-0.598593	0.03744	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.38	-1.42	0.08913	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.19200	0.034	B	0.08055	0.003	T	0.41142	-0.9525	8	0.87932	D	0	.	5.5315	0.16987	0.0:0.0:0.425:0.575	.	432	B5ME49	.	N	432	ENSP00000381008:T432N	ENSP00000381008:T432N	T	-	2	0	MUC16	8951520	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.285000	0.08410	-0.295000	0.08960	-0.823000	0.03104	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	67	0	0	0	1	0	20	67					T	9090520	G	T	9090520	3	4	244	1	0	0	0	0	1	0	0	0	9973	1029	36	4	42564	4	MUC16	19	9090520	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		9090520	50038463	13	4346											
PRRG1	5638	broad.mit.edu	37	X	37312552	37312552	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:37312552G>A	ENST00000542554.1	+	5	607	c.335G>A	c.(334-336)aGa>aAa	p.R112K	PRRG1_ENST00000378628.4_Missense_Mutation_p.R112K|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.R112K|PRRG1_ENST00000543642.1_Missense_Mutation_p.R112K|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	112						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAACTCGTAGACAGACAGTG	0.438																																						uc004ddn.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(334-336)aGa>aAa		Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.							158	130	139					X																	37312552		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312552G>A	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.335G>A	X.37:g.37312552G>A	ENSP00000444278:p.Arg112Lys		Somatic				PRRG1_uc004ddo.3_Missense_Mutation_p.R112K|PRRG1_uc022buu.1_Missense_Mutation_p.R112K|PRRG1_uc022buv.1_Missense_Mutation_p.R112K	p.R112K	NM_000950	NP_001166961	WXS	Illumina GAIIx	Phase_I	O14668	TMG1_HUMAN			4	588	+			112					B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.335G>A	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466827	0.84425	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135	D;D;D;D;D;D	0.99098	-5.26;-5.21;-5.26;-5.26;-5.42;-5.26	6.03	6.03	0.97812	.	0.044299	0.85682	D	0.000000	D	0.99007	0.9661	L	0.60455	1.87	0.43050	D	0.994658	D	0.58970	0.984	D	0.68192	0.956	D	0.99904	1.1173	10	0.46703	T	0.11	-17.4082	17.9386	0.89020	0.0:0.0:1.0:0.0	.	112	O14668	TMG1_HUMAN	K	112	ENSP00000367894:R112K;ENSP00000418384:R112K;ENSP00000444278:R112K;ENSP00000443271:R112K;ENSP00000420353:R112K;ENSP00000390332:R112K	ENSP00000367894:R112K	R	+	2	0	PRRG1	37197473	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.116000	0.71571	2.561000	0.86390	0.523000	0.50628	AGA		0.438	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		23	41	0	0	0	1	0	23	41					A	37312552	G	A	37312552	3	1	244	1	0	0	0	0	1	0	0	0	12605	942	33	2	427	2	PRRG1	23	37312552	Missense_Mutation	SNP	G	TCGA-EM-A22P-01A-11D-A19J-08		37312552	117958008	14	4347											
ZNF185	7739	broad.mit.edu	37	X	152139069	152139069	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A22P-01A-11D-A19J-08	TCGA-EM-A22P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22a4f3dc-258f-4c03-965a-c82d3eb24a1d	10806bd5-17f1-4c9d-88c5-b9be87731c0a	g.chrX:152139069A>T	ENST00000370268.4	+	22	2091	c.2054A>T	c.(2053-2055)tAt>tTt	p.Y685F	ZNF185_ENST00000454925.1_Missense_Mutation_p.Y323F|ZNF185_ENST00000535861.1_Missense_Mutation_p.Y717F|ZNF185_ENST00000539731.1_Missense_Mutation_p.Y688F|ZNF185_ENST00000318529.8_Missense_Mutation_p.Y464F|ZNF185_ENST00000324823.6_Missense_Mutation_p.Y453F|ZNF185_ENST00000318504.7_Missense_Mutation_p.Y626F|ZNF185_ENST00000370270.2_Missense_Mutation_p.Y717F|ZNF185_ENST00000449285.2_Missense_Mutation_p.Y686F			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	685	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAAATGCTATGAGAAGCTC	0.498																																						uc011myg.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(2149-2151)tAt>tTt		Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.							146	130	135					X																	152139069		2000	4164	6164	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152139069A>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.2054A>T	X.37:g.152139069A>T	ENSP00000359291:p.Tyr685Phe		Somatic				ZNF185_uc011myi.2_Missense_Mutation_p.Y656F|ZNF185_uc011myj.2_Missense_Mutation_p.Y626F|ZNF185_uc011myh.2_Missense_Mutation_p.Y688F|ZNF185_uc011myk.2_Missense_Mutation_p.Y686F|ZNF185_uc010ntv.2_Missense_Mutation_p.Y685F|ZNF185_uc004fgw.4_Missense_Mutation_p.Y464F|ZNF185_uc004fgu.3_Missense_Mutation_p.Y314F|ZNF185_uc004fgv.3_Missense_Mutation_p.Y382F|ZNF185_uc004fgx.3_Missense_Mutation_p.Y323F	p.Y717F	NM_001178106	NP_001171577	WXS	Illumina GAIIx	Phase_I	O15231	ZN185_HUMAN			22	2198	+	Acute lymphoblastic leukemia(192;6.56e-05)		685					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.2150A>T	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.642898|3.642898	0.67244|0.67244	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270	.|D;D;D;D;D;D;D;D	.|0.85411	.|-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.25|5.25	4.06|4.06	0.47325|0.47325	.|Zinc finger, LIM-type (1);	.|0.000000	.|0.41500	.|D	.|0.000878	D|D	0.89491|0.89491	0.6730|0.6730	L|L	0.60845|0.60845	1.875|1.875	0.36539|0.36539	D|D	0.871171|0.871171	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.998;0.999;0.998;0.998;0.998;1.0	.|D;D;D;D;D;D;D;D;D	.|0.87578	.|0.997;0.998;0.982;0.994;0.995;0.994;0.994;0.971;0.998	D|D	0.90735|0.90735	0.4645|0.4645	5|10	.|0.87932	.|D	.|0	-13.3014|-13.3014	9.7206|9.7206	0.40300|0.40300	0.8275:0.1725:0.0:0.0|0.8275:0.1725:0.0:0.0	.|.	.|686;626;656;688;717;685;323;464;448	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	L|F	326|717;688;686;626;520;453;685;464;448	.|ENSP00000440847:Y717F;ENSP00000444367:Y688F;ENSP00000395228:Y686F;ENSP00000312782:Y626F;ENSP00000325307:Y453F;ENSP00000359291:Y685F;ENSP00000313919:Y464F;ENSP00000359293:Y448F	.|ENSP00000312782:Y626F	M|Y	+|+	1|2	0|0	ZNF185|ZNF185	151889725|151889725	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.948000|0.948000	0.59901|0.59901	5.764000|5.764000	0.68826|0.68826	0.722000|0.722000	0.32252|0.32252	0.486000|0.486000	0.48141|0.48141	ATG|TAT		0.498	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		4	41	0	0	0	1	0	4	41					T	152139069	A	T	152139069	3	4	244	1	0	0	0	0	1	0	0	0	17749	449	16	5	2384	5	ZNF185	23	152139069	Missense_Mutation	SNP	A	TCGA-EM-A22P-01A-11D-A19J-08	114826517	152139069	3131491	15	4348											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	103	0	0	0	1	0	55	103					T	115256530	G	T	115256530	3	4	245	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		115256530	133994091	1	4349											
POLR1B	84172	broad.mit.edu	37	2	113332950	113332950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr2:113332950C>T	ENST00000263331.5	+	15	3632	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	POLR1B_ENST00000417433.2_Nonsense_Mutation_p.R962*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.R807*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.R1056*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.R835*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1018					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						AACTGGAGCCCGAGACAGAGT	0.488																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2																			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.(3052-3054)Cga>Tga		Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.							84	91	89					2																	113332950		2203	4300	6503	SO:0001587	stop_gained	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.chr2:113332950C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3052C>T	2.37:g.113332950C>T	ENSP00000263331:p.Arg1018*		Somatic				POLR1B_uc010fkn.2_Nonsense_Mutation_p.R962*|POLR1B_uc002thx.2_Nonsense_Mutation_p.R879*|POLR1B_uc010fko.2_Nonsense_Mutation_p.R835*|POLR1B_uc010fkp.2_Nonsense_Mutation_p.R457*|POLR1B_uc002thy.2_Nonsense_Mutation_p.R879*|POLR1B_uc010yxo.1_Nonsense_Mutation_p.R795*	p.R1018*	NM_019014	NP_061887	WXS	Illumina GAIIx	Phase_I	Q9H9Y6	RPA2_HUMAN			14	3632	+			1018					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Nonsense_Mutation	SNP	ENST00000263331.5	37	c.3052C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512561	0.98329	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	.	.	.	5.59	1.59	0.23543	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-27.8075	13.761	0.62966	0.6138:0.3862:0.0:0.0	.	.	.	.	X	1018;1056;835;807;962;377	.	ENSP00000263331:R1018X	R	+	1	2	POLR1B	113049421	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.319000	0.43788	0.398000	0.25338	-0.457000	0.05445	CGA		0.488	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		25	48	0	0	0	1	0	25	48					T	113332950	C	T	113332950	4	4	245	1	0	0	0	0	0	1	0	0	12210	644	23	1	3110	1	POLR1B	2	113332950	Nonsense_Mutation	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		113332950	129866423	2	4350											
YEATS2	55689	broad.mit.edu	37	3	183472085	183472085	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr3:183472085A>G	ENST00000305135.5	+	11	1517	c.1322A>G	c.(1321-1323)cAg>cGg	p.Q441R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	441					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACAAAGTCAGGTTCCTAAT	0.448																																						uc003fly.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1321-1323)cAg>cGg		Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.							113	106	108					3																	183472085		1910	4129	6039	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183472085A>G	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1322A>G	3.37:g.183472085A>G	ENSP00000306983:p.Gln441Arg		Somatic					p.Q441R	NM_018023	NP_060493	WXS	Illumina GAIIx	Phase_I	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1517	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		441					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1322A>G	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650615	0.47362	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.29917	1.55	5.81	5.81	0.92471	.	0.070129	0.64402	D	0.000019	T	0.22589	0.0545	L	0.34521	1.04	0.53688	D	0.999971	B	0.12630	0.006	B	0.09377	0.004	T	0.07849	-1.0751	10	0.20519	T	0.43	-13.0499	11.2447	0.48990	0.9292:0.0:0.0708:0.0	.	441	Q9ULM3	YETS2_HUMAN	R	441	ENSP00000306983:Q441R	ENSP00000306983:Q441R	Q	+	2	0	YEATS2	184954779	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.233000	0.72320	2.221000	0.72209	0.455000	0.32223	CAG		0.448	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		3	61	0	0	0	1	0	3	61					G	183472085	A	G	183472085	3	3	245	1	0	0	0	0	1	0	0	0	17469	188	7	3	1360	3	YEATS2	3	183472085	Missense_Mutation	SNP	A	TCGA-EM-A22Q-01A-11D-A17V-08		183472085	14550345	3	4351											
FRAS1	80144	broad.mit.edu	37	4	79360116	79360116	+	Silent	SNP	C	C	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr4:79360116C>G	ENST00000325942.6	+	40	5867	c.5427C>G	c.(5425-5427)gtC>gtG	p.V1809V	FRAS1_ENST00000264895.6_Silent_p.V1809V	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1809					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						ATTTCTCTGTCTCTGACATGG	0.378																																						uc003hlb.2																			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.(5425-5427)gtC>gtG		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							185	187	186					4																	79360116		1904	4113	6017	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79360116C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5427C>G	4.37:g.79360116C>G			Somatic				FRAS1_uc003hkw.3_Silent_p.V1809V|FRAS1_uc010ijj.2_Silent_p.V229V	p.V1809V	NM_025074	NP_079350	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			39	5867	+			1808					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.5427C>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.949887	0.18431	.	.	ENSG00000138759	ENST00000510944;ENST00000512123	.	.	.	5.92	3.22	0.36961	.	.	.	.	.	T	0.46678	0.1405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30765	-0.9967	4	.	.	.	.	3.541	0.07811	0.1155:0.3008:0.414:0.1697	.	.	.	.	V	259;38	.	.	L	+	1	0	FRAS1	79579140	0.510000	0.26171	1.000000	0.80357	0.997000	0.91878	-0.013000	0.12678	0.362000	0.24319	0.585000	0.79938	CTC		0.378	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			52	94	0	0	0	1	0	52	94					G	79360116	C	G	79360116	2	3	245	1	0	0	0	0	0	0	0	1	6042	900	32	4		4	FRAS1	4	79360116	Silent	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		79360116	111794160	4	4352											
ADAM12	8038	broad.mit.edu	37	10	127737869	127737869	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr10:127737869G>A	ENST00000368679.4	-	16	2188	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S|ADAM12_ENST00000467145.1_5'Flank	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	627	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGGGTCCGGCATGTCATCG	0.527																																						uc001ljk.2																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1879-1881)Ccg>Tcg		Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.							183	187	185					10																	127737869		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr10:127737869G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1879C>T	10.37:g.127737869G>A	ENSP00000357668:p.Pro627Ser		Somatic				ADAM12_uc010qul.1_Missense_Mutation_p.P578S|ADAM12_uc001ljm.3_Missense_Mutation_p.P627S|ADAM12_uc001ljn.3_Missense_Mutation_p.P624S|ADAM12_uc001ljl.4_Missense_Mutation_p.P624S	p.P627S	NM_003474	NP_003465	WXS	Illumina GAIIx	Phase_I	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	15	2292	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	627			Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1879C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104243	0.76983	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21191	2.02;2.02	4.9	4.9	0.64082	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.42008	1.315	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;0.999;0.999;0.999;1.0	T	0.03534	-1.1027	10	0.14252	T	0.57	.	18.2825	0.90103	0.0:0.0:1.0:0.0	.	624;624;627;624;627	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	S	627	ENSP00000357668:P627S;ENSP00000357665:P627S	ENSP00000357665:P627S	P	-	1	0	ADAM12	127727859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.806000	0.86020	2.548000	0.85928	0.655000	0.94253	CCG		0.527	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	239	0	0	0	1	0	5	239					A	127737869	G	A	127737869	3	1	245	1	0	0	0	0	1	0	0	0	236	1203	42	2	990	2	ADAM12	10	127737869	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		127737869	7796878	5	4353											
MRGPRX1	259249	broad.mit.edu	37	11	18956323	18956323	+	Silent	SNP	T	T	A			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:18956323T>A	ENST00000302797.3	-	1	233	c.9A>T	c.(7-9)ccA>ccT	p.P3P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	3					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGATGGTTGGATCCATGC	0.517																																						uc001mpg.3																			0		p.P3T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(7-9)ccA>ccT		Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.							255	243	247					11																	18956323		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956323T>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.9A>T	11.37:g.18956323T>A			Somatic					p.P3P	NM_147199	NP_671732	WXS	Illumina GAIIx	Phase_I	Q96LB2	MRGX1_HUMAN			0	227	-			3					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.9A>T	CCDS7846.1																																																																																				0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		60	114	0	0	0	1	0	60	114					A	18956323	T	A	18956323	2	1	245	1	0	0	0	0	0	0	0	1	9766	1799	63	5		5	MRGPRX1	11	18956323	Silent	SNP	T	TCGA-EM-A22Q-01A-11D-A17V-08		18956323	116050193	6	4354											
RBM7	10179	broad.mit.edu	37	11	114271421	114271421	+	Missense_Mutation	SNP	C	C	T	rs376690569		TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr11:114271421C>T	ENST00000540163.1	+	1	670	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	RBM7_ENST00000375490.5_Missense_Mutation_p.R10C|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000544582.1_Missense_Mutation_p.R10C|RBM7_ENST00000541475.1_Missense_Mutation_p.R10C|RP11-212D19.4_ENST00000544347.1_Silent_p.I6I|C11orf71_ENST00000325636.4_5'Flank			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	10	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627													C|||	1	0.000199681	0	0	5008	,	,		15355	0		0	False		,,,				2504	0.001					uc001pow.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(28-30)Cgc>Tgc		Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.		C	CYS/ARG	0,4402		0,0,2201	52	56	55		28	3.9	0.4	11		55	1,8591	1.2+/-3.3	0,1,4295	no	missense	RBM7	NM_016090.2	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	10/267	114271421	1,12993	2201	4296	6497	SO:0001583	missense	10179				meiosis		RNA binding|nucleotide binding|protein binding	g.chr11:114271421C>T	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.28C>T	11.37:g.114271421C>T	ENSP00000439918:p.Arg10Cys		Somatic				C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.4_5'Flank|RBM7_uc001pov.3_Missense_Mutation_p.R10C|RBM7_uc001pox.3_5'UTR	p.R10C	NM_016090	NP_057174	WXS	Illumina GAIIx	Phase_I	Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	0	38	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	10			RRM.		B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.28C>T	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012317	0.54468	0.0	1.16E-4	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000541475;ENST00000544582	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.8	3.94	0.45596	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.227351	0.46758	N	0.000268	T	0.65165	0.2665	L	0.56340	1.77	0.80722	D	1	B;P	0.37061	0.293;0.58	B;B	0.27715	0.057;0.082	T	0.66276	-0.5964	10	0.87932	D	0	-3.2611	11.1642	0.48533	0.0:0.8512:0.0:0.1488	.	10;10	Q6IRX3;Q9Y580	.;RBM7_HUMAN	C	10	ENSP00000439918:R10C;ENSP00000364639:R10C;ENSP00000440949:R10C;ENSP00000440923:R10C	ENSP00000364639:R10C	R	+	1	0	RBM7	113776631	1.000000	0.71417	0.366000	0.25914	0.267000	0.26476	2.396000	0.44468	0.811000	0.34303	0.655000	0.94253	CGC		0.627	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		23	51	0	0	0	1	0	23	51					T	114271421	C	T	114271421	3	4	245	1	0	0	0	0	1	0	0	0	13145	884	31	1	30	1	RBM7	11	114271421	Missense_Mutation	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08	95315098	114271421	20735095	7	4355											
SPRYD4	283377	broad.mit.edu	37	12	56862411	56862411	+	Silent	SNP	C	C	T			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr12:56862411C>T	ENST00000338146.5	+	1	111	c.36C>T	c.(34-36)tgC>tgT	p.C12C	MIP_ENST00000555551.1_Intron	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	12	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TGCGCTTGTGCCGCTGGGGAG	0.567																																						uc001sli.4																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						c.(34-36)tgC>tgT		Homo sapiens SPRY domain containing 4 (SPRYD4), mRNA.							136	125	129					12																	56862411		2203	4300	6503	SO:0001819	synonymous_variant	283377					nucleus		g.chr12:56862411C>T	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.36C>T	12.37:g.56862411C>T			Somatic				SPRYD4_uc010sqo.1_Silent_p.C12C	p.C12C	NM_207344	NP_997227	WXS	Illumina GAIIx	Phase_I	Q8WW59	SPRY4_HUMAN			0	111	+			12			B30.2/SPRY.		A8K7A5	Silent	SNP	ENST00000338146.5	37	c.36C>T	CCDS8920.1																																																																																				0.567	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		4	112	0	0	0	1	0	4	112					T	56862411	C	T	56862411	2	4	245	1	0	0	0	0	0	0	0	1	15109	747	26	2		2	SPRYD4	12	56862411	Silent	SNP	C	TCGA-EM-A22Q-01A-11D-A17V-08		56862411	76989484	8	4356											
SIPA1L1	26037	broad.mit.edu	37	14	72202102	72202102	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr14:72202102A>G	ENST00000555818.1	+	20	5528	c.5180A>G	c.(5179-5181)tAc>tGc	p.Y1727C	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Y1706C|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Y1181C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Y1706C|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1727					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAAGCCTTACAGCAGGTTG	0.542																																						uc001xms.3																			0		p.P1726L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(5179-5181)tAc>tGc		Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.							114	100	105					14																	72202102		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72202102A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5180A>G	14.37:g.72202102A>G	ENSP00000450832:p.Tyr1727Cys		Somatic				SIPA1L1_uc001xmt.3_Missense_Mutation_p.Y1706C|SIPA1L1_uc001xmu.3_Missense_Mutation_p.Y1706C|SIPA1L1_uc001xmv.3_Missense_Mutation_p.Y1727C|SIPA1L1_uc010ttm.2_Missense_Mutation_p.Y1181C	p.Y1727C	NM_015556	NP_056371	WXS	Illumina GAIIx	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	19	5541	+			1727					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.5180A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.985068	0.35036	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.15	3.99	0.46301	.	0.274240	0.39985	N	0.001214	T	0.43456	0.1248	L	0.36672	1.1	0.28891	N	0.893857	D;D;D;D;D	0.89917	0.999;0.999;0.982;0.991;1.0	P;D;P;P;D	0.83275	0.871;0.996;0.885;0.838;0.995	T	0.35649	-0.9780	10	0.39692	T	0.17	-15.8791	12.4729	0.55797	0.8733:0.0:0.0:0.1267	.	1181;1727;1181;1706;1727	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	C	1706;1727;1706;1181	ENSP00000370630:Y1706C;ENSP00000450832:Y1727C;ENSP00000351352:Y1706C;ENSP00000440682:Y1181C	ENSP00000351352:Y1727C	Y	+	2	0	SIPA1L1	71271855	1.000000	0.71417	0.524000	0.27887	0.659000	0.38960	4.095000	0.57728	0.363000	0.24346	-1.426000	0.01102	TAC		0.542	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	79	0	0	0	1	0	9	79					G	72202102	A	G	72202102	3	3	245	1	0	0	0	0	1	0	0	0	14329	391	14	3	5254	3	SIPA1L1	14	72202102	Missense_Mutation	SNP	A	TCGA-EM-A22Q-01A-11D-A17V-08		72202102	35147438	9	4357											
ZNF480	147657	broad.mit.edu	37	19	52817523	52817523	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22Q-01A-11D-A17V-08	TCGA-EM-A22Q-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3bd45f-1011-49b9-9358-e89134bd9870	f1e73e62-79f2-4bed-8894-cd2e720817c7	g.chr19:52817523G>T	ENST00000595962.1	+	3	256	c.190G>T	c.(190-192)Gtc>Ttc	p.V64F	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.V64F|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAGGAACCTGGTCTCCCTGGG	0.542																																						uc010ydl.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(190-192)Gtc>Ttc		Homo sapiens zinc finger protein 480 (ZNF480), mRNA.							112	104	107					19																	52817523		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52817523G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.190G>T	19.37:g.52817523G>T	ENSP00000471754:p.Val64Phe		Somatic				ZNF480_uc002pyv.3_Intron|ZNF480_uc010ydm.2_Missense_Mutation_p.V64F|ZNF480_uc010epn.3_Intron|AK097759_uc002pyw.1_Intron	p.V64F	NM_144684	NP_653285	WXS	Illumina GAIIx	Phase_I	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	2	260	+			64			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.190G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	7.829	0.719438	0.15372	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.02301	4.35;4.35	2.04	-0.455	0.12193	Krueppel-associated box (4);	.	.	.	.	T	0.03564	0.0102	M	0.88181	2.935	0.09310	N	0.999999	P;B	0.47484	0.896;0.071	B;B	0.35813	0.211;0.062	T	0.31223	-0.9951	9	0.59425	D	0.04	.	2.7546	0.05289	0.3318:0.2535:0.4147:0.0	.	64;64	F8WEZ9;Q8WV37	.;ZN480_HUMAN	F	86;64;64	ENSP00000417424:V64F;ENSP00000334164:V64F	ENSP00000334164:V64F	V	+	1	0	ZNF480	57509335	0.000000	0.05858	0.423000	0.26634	0.132000	0.20833	-1.633000	0.02022	-0.205000	0.10219	0.508000	0.49915	GTC		0.542	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		34	83	0	0	0	1	0	34	83					T	52817523	G	T	52817523	3	4	245	1	0	0	0	0	1	0	0	0	17932	1261	44	4	196	4	ZNF480	19	52817523	Missense_Mutation	SNP	G	TCGA-EM-A22Q-01A-11D-A17V-08		52817523	6311460	10	4358											
CCDC27	148870	broad.mit.edu	37	1	3677920	3677920	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:3677920G>A	ENST00000294600.2	+	5	871	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	263										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGGAGAGGGAGGCCCTGAA	0.592																																						uc001akv.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(787-789)Gag>Aag		Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.							80	76	78					1																	3677920		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3677920G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.787G>A	1.37:g.3677920G>A	ENSP00000294600:p.Glu263Lys		Somatic					p.E263K	NM_152492	NP_689705	WXS	Illumina GAIIx	Phase_I	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	4	868	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	263					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.787G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452402	0.43531	.	.	ENSG00000162592	ENST00000294600	T	0.22134	1.97	3.75	3.75	0.43078	.	0.000000	0.43579	D	0.000551	T	0.32793	0.0841	L	0.32530	0.975	0.33532	D	0.59374	D	0.89917	1.0	D	0.83275	0.996	T	0.42632	-0.9440	10	0.56958	D	0.05	-36.4106	11.808	0.52167	0.0:0.0:1.0:0.0	.	263	Q2M243	CCD27_HUMAN	K	263	ENSP00000294600:E263K	ENSP00000294600:E263K	E	+	1	0	CCDC27	3667780	1.000000	0.71417	0.589000	0.28718	0.380000	0.30137	2.879000	0.48522	2.059000	0.61396	0.563000	0.77884	GAG		0.592	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		8	71	0	0	0	1	0	8	71					A	3677920	G	A	3677920	3	1	246	1	0	0	0	0	1	0	0	0	2801	1175	41	2	805	2	CCDC27	1	3677920	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08		3677920	245572701	1	4359											
FRRS1	391059	broad.mit.edu	37	1	100181191	100181191	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:100181191G>T	ENST00000414213.1	-	12	1875	c.1274C>A	c.(1273-1275)aCc>aAc	p.T425N	FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.T425N			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	425	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGCAATGCAGGTGAGGACAGT	0.373																																						uc001dsh.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1273-1275)aCc>aAc		Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.							108	104	105					1																	100181191		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100181191G>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1274C>A	1.37:g.100181191G>T	ENSP00000393884:p.Thr425Asn		Somatic				MIR548D1_uc021oqn.1_5'Flank	p.T425N	NM_001013660	NP_001013682	WXS	Illumina GAIIx	Phase_I	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	11	1876	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	425			Cytochrome b561.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1274C>A		.	.	.	.	.	.	.	.	.	.	G	17.23	3.335587	0.60853	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80264	-0.1455	9	0.40728	T	0.16	-16.6896	18.2491	0.89997	0.0:0.0:1.0:0.0	.	425	Q6ZNA5-2	.	N	425	.	ENSP00000287474:T425N	T	-	2	0	FRRS1	99953779	1.000000	0.71417	0.995000	0.50966	0.288000	0.27193	6.546000	0.73887	2.718000	0.92993	0.460000	0.39030	ACC		0.373	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		23	59	0	0	0	1	0	23	59					T	100181191	G	T	100181191	3	4	246	1	0	0	0	0	1	0	0	0	6060	1261	44	4	630	4	FRRS1	1	100181191	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	96503271	100181191	149069430	2	4360											
IFI16	3428	broad.mit.edu	37	1	158990261	158990261	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:158990261G>A	ENST00000295809.7	+	6	1358	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	IFI16_ENST00000359709.3_Missense_Mutation_p.R312Q|IFI16_ENST00000430894.2_Missense_Mutation_p.R316Q|IFI16_ENST00000368132.3_Missense_Mutation_p.R368Q|IFI16_ENST00000368131.4_Missense_Mutation_p.R368Q|IFI16_ENST00000448393.2_Missense_Mutation_p.R368Q|IFI16_ENST00000340979.6_Missense_Mutation_p.R368Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	368	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TTCTGCTTTCGACTTAGAAAA	0.358																																						uc001ftg.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1102-1104)cGa>cAa		Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.							79	90	86					1																	158990261		2203	4300	6503	SO:0001583	missense	3428				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158990261G>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1103G>A	1.37:g.158990261G>A	ENSP00000295809:p.Arg368Gln		Somatic				IFI16_uc010pis.2_Missense_Mutation_p.R312Q|IFI16_uc010pit.2_Missense_Mutation_p.R368Q	p.R368Q	NM_005531	NP_005522	WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			5	1393	+	all_hematologic(112;0.0429)		368			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1103G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.91|10.91	1.485342|1.485342	0.26686|0.26686	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56;2.56	2.64|2.64	-1.94|-1.94	0.07571|0.07571	.|.	.|.	.|.	.|.	.|.	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|P;P	.|0.36633	.|0.562;0.507	.|B;B	.|0.29524	.|0.103;0.063	T|T	0.43766|0.43766	-0.9371|-0.9371	5|9	.|0.08837	.|T	.|0.75	.|.	6.0461|6.0461	0.19760|0.19760	0.6069:0.0:0.3931:0.0|0.6069:0.0:0.3931:0.0	.|.	.|316;368	.|E7EPR3;Q16666-2	.|.;.	N|Q	189|368;368;368;368;316	.|ENSP00000295809:R368Q;ENSP00000342741:R368Q;ENSP00000357113:R368Q;ENSP00000357114:R368Q;ENSP00000394935:R316Q	.|ENSP00000295809:R368Q	D|R	+|+	1|2	0|0	IFI16|IFI16	157256885|157256885	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	0.010000|0.010000	0.13242|0.13242	-0.572000|-0.572000	0.06006|0.06006	-0.258000|-0.258000	0.10820|0.10820	GAC|CGA		0.358	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		42	43	0	0	0	1	0	42	43					A	158990261	G	A	158990261	3	1	246	1	0	0	0	0	1	0	0	0	7511	1058	37	1	1121	1	IFI16	1	158990261	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	58809070	158990261	90260360	3	4361											
FAM5C	339479	broad.mit.edu	37	1	190129933	190129933	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:190129933T>G	ENST00000367462.3	-	7	1280	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	BRINP3_ENST00000534846.1_Missense_Mutation_p.N248T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	350					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)											GCGCTGAAAATTAGAATCCAT	0.353																																						uc001gse.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1048-1050)aAt>aCt		Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.							121	130	127					1																	190129933		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190129933T>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1049A>C	1.37:g.190129933T>G	ENSP00000356432:p.Asn350Thr		Somatic				FAM5C_uc010pot.1_Missense_Mutation_p.N248T	p.N350T	NM_199051	NP_950252	WXS	Illumina GAIIx	Phase_I	Q76B58	FAM5C_HUMAN			6	1281	-	Prostate(682;0.198)		350					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1049A>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.759336	0.31137	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.17370	2.54;2.28	5.75	3.39	0.38822	.	0.486595	0.22677	N	0.056995	T	0.12263	0.0298	L	0.38175	1.15	0.30360	N	0.783922	B;B	0.15141	0.008;0.012	B;B	0.14023	0.01;0.005	T	0.20706	-1.0267	10	0.20519	T	0.43	.	8.3029	0.32025	0.0:0.1718:0.0:0.8282	.	248;350	B7Z260;Q76B58	.;FAM5C_HUMAN	T	350;248	ENSP00000356432:N350T;ENSP00000438022:N248T	ENSP00000356432:N350T	N	-	2	0	FAM5C	188396556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.028000	0.30128	0.426000	0.26116	0.467000	0.42956	AAT		0.353	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		4	134	0	0	0	1	0	4	134					G	190129933	T	G	190129933	3	3	246	1	0	0	0	0	1	0	0	0	5594	1493	52	5	1259	5	FAM5C	1	190129933	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08	31139672	190129933	59120688	4	4362											
MIA3	375056	broad.mit.edu	37	1	222825616	222825616	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr1:222825616A>C	ENST00000344922.5	+	13	4053	c.4028A>C	c.(4027-4029)aAg>aCg	p.K1343T	MIA3_ENST00000340535.7_Missense_Mutation_p.K221T|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K1343T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1343					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGAAGGTGAAGTCTGAATGC	0.378																																						uc001hnl.3																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(4027-4029)aAg>aCg		Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.							164	157	159					1																	222825616		1865	4100	5965	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222825616A>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4028A>C	1.37:g.222825616A>C	ENSP00000340900:p.Lys1343Thr		Somatic				MIA3_uc009xea.1_Intron|MIA3_uc001hnm.3_Missense_Mutation_p.K221T	p.K1343T	NM_198551	NP_940953	WXS	Illumina GAIIx	Phase_I	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	12	4037	+			1343					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4028A>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179133	0.78564	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	T;T;T	0.71222	-0.55;-0.55;-0.55	5.89	4.77	0.60923	.	.	.	.	.	T	0.78824	0.4344	M	0.68593	2.085	0.37709	D	0.924511	D;D	0.69078	0.985;0.997	P;D	0.63957	0.842;0.92	T	0.80495	-0.1357	9	0.46703	T	0.11	.	9.0893	0.36601	0.8591:0.0:0.1409:0.0	.	221;1343	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1343;1343;221;221	ENSP00000340900:K1343T;ENSP00000340587:K1343T;ENSP00000345866:K221T	ENSP00000284471:K221T	K	+	2	0	MIA3	220892239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.525000	0.53502	1.056000	0.40484	0.533000	0.62120	AAG		0.378	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		6	103	0	0	0	1	0	6	103					C	222825616	A	C	222825616	3	2	246	1	0	0	0	0	1	0	0	0	9565	72	3	5	4078	5	MIA3	1	222825616	Missense_Mutation	SNP	A	TCGA-EM-A2CJ-01A-11D-A17V-08	32695683	222825616	26425005	5	4363											
ATF6B	1388	broad.mit.edu	37	6	32083526	32083526	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:32083526T>C	ENST00000375203.3	-	18	2134	c.2102A>G	c.(2101-2103)aAt>aGt	p.N701S	ATF6B_ENST00000375201.4_Missense_Mutation_p.N698S	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	701					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						TCAGGGATGATTGAGGTAGAG	0.612																																						uc003nzn.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(2101-2103)aAt>aGt		Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.							65	74	71					6																	32083526		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.chr6:32083526T>C		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2102A>G	6.37:g.32083526T>C	ENSP00000364349:p.Asn701Ser		Somatic				TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.N698S	p.N701S	NM_004381	NP_004372	WXS	Illumina GAIIx	Phase_I	Q99941	ATF6B_HUMAN			17	2135	-			701					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.2102A>G	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	t	6.719	0.501432	0.12822	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.55052	0.54;1.28	5.32	2.67	0.31697	.	0.917755	0.08960	U	0.868870	T	0.11922	0.0290	N	0.08118	0	0.24507	N	0.994222	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.25779	-1.0122	10	0.28530	T	0.3	-3.3207	5.223	0.15379	0.0:0.2687:0.0:0.7313	.	698;701	Q99941-2;Q99941	.;ATF6B_HUMAN	S	701;698	ENSP00000364349:N701S;ENSP00000364347:N698S	ENSP00000364347:N698S	N	-	2	0	ATF6B	32191504	0.026000	0.19158	0.963000	0.40424	0.007000	0.05969	-0.084000	0.11268	0.985000	0.38656	0.456000	0.33151	AAT		0.612	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	113	0	0	0	1	0	5	113					C	32083526	T	C	32083526	3	2	246	1	0	0	0	0	1	0	0	0	1085	1493	52	3	13	3	ATF6B	6	32083526	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		32083526	139031541	6	4364											
ABCC10	89845	broad.mit.edu	37	6	43400340	43400340	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr6:43400340G>T	ENST00000372530.4	+	3	837	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.D165Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	208				D -> E (in Ref. 1; AAK39642). {ECO:0000305}.	transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGCCCGAGGATCAAGAACC	0.637																																						uc003ouy.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(622-624)Gat>Tat		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.							72	74	73					6																	43400340		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400340G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.622G>T	6.37:g.43400340G>T	ENSP00000361608:p.Asp208Tyr		Somatic				ABCC10_uc003ouz.1_Missense_Mutation_p.D165Y	p.D208Y	NM_001198934	NP_001185863	WXS	Illumina GAIIx	Phase_I	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		2	837	+	all_lung(25;0.00536)		208	D -> E (in Ref. 1; AAK39642).				Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.622G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	2.968	-0.213134	0.06140	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91577	-2.87;-2.84	5.54	1.59	0.23543	.	2.215120	0.01480	N	0.016644	T	0.64249	0.2581	N	0.08118	0	0.09310	N	1	P;B	0.39696	0.683;0.013	B;B	0.37198	0.243;0.015	T	0.68637	-0.5356	10	0.52906	T	0.07	-18.0169	1.2484	0.01977	0.3857:0.1843:0.2989:0.131	.	165;208	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	208;165	ENSP00000361608:D208Y;ENSP00000244533:D165Y	ENSP00000244533:D165Y	D	+	1	0	ABCC10	43508318	0.000000	0.05858	0.016000	0.15963	0.098000	0.18820	-0.051000	0.11885	0.294000	0.22547	-0.291000	0.09656	GAT		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		18	135	0	0	0	1	0	18	135					T	43400340	G	T	43400340	3	4	246	1	0	0	0	0	1	0	0	0	50	1174	41	4	495	4	ABCC10	6	43400340	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	11316814	43400340	127714727	7	4365											
TTC16	158248	broad.mit.edu	37	9	130487098	130487098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr9:130487098delT	ENST00000373289.3	+	9	1261	c.1181delT	c.(1180-1182)ctgfs	p.L394fs	TTC16_ENST00000393748.4_3'UTR|TTC16_ENST00000489226.1_Intron|PTRH1_ENST00000419060.1_5'UTR|PTRH1_ENST00000429848.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	394										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCGCTGGCGCTGAGCCCTCAG	0.682																																						uc004brq.1																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1180-1182)ctgfs		Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.							13	12	12					9																	130487098		2188	4285	6473	SO:0001589	frameshift_variant	158248						binding	g.chr9:130487098delT	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1181delT	9.37:g.130487098delT	ENSP00000362386:p.Leu394fs		Somatic				PTRH1_uc011mah.2_5'UTR|TTC16_uc011mai.1_Frame_Shift_Del_p.L381fs|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_5'UTR	p.L394fs	NM_144965	NP_659402	WXS	Illumina GAIIx	Phase_I	Q8NEE8	TTC16_HUMAN			8	1248	+			394					B4DYG4|B5ME24|Q5JU66|Q96M72	Frame_Shift_Del	DEL	ENST00000373289.3	37	c.1181delT	CCDS6875.1																																																																																				0.682	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		15	14						15	14	---	---	---	---	-	130487098	T	-	130487098	7	5	246	1	0	1	0	1	0	0	0	0	16680	1580	55	0	1215	0	TTC16	9	130487098	Frame_Shift_Del	DEL	T	TCGA-EM-A2CJ-01A-11D-A17V-08		130487098	10726333	8	4366											
TRPM5	29850	broad.mit.edu	37	11	2433483	2433483	+	Splice_Site	SNP	C	C	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr11:2433483C>G	ENST00000155858.6	-	16	2364	c.2356G>C	c.(2356-2358)Ggc>Cgc	p.G786R	TRPM5_ENST00000533060.1_Splice_Site_p.G786R|TRPM5_ENST00000452833.1_Splice_Site_p.G788R|TRPM5_ENST00000528453.1_Splice_Site_p.G786R	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)		GTGAAGAAGCCCTGGGAGGGA	0.562																																					NSCLC(1;49 61 17205 18850 43201)	uc010qxl.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.e16-1		Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.							181	155	164					11																	2433483		2202	4299	6501	SO:0001630	splice_region_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2433483C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2356-1G>C	11.37:g.2433483C>G			Somatic				TRPM5_uc001lwm.4_Splice_Site_p.G786_splice|TRPM5_uc009ydn.3_Splice_Site_p.G788_splice	p.G786_splice	NM_014555	NP_055370	WXS	Illumina GAIIx	Phase_I	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	16	2365	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	786						Splice_Site	SNP	ENST00000155858.6	37	c.2356_splice	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266868	0.40095	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.54	4.54	0.55810	Ion transport (1);	0.246814	0.41605	D	0.000859	T	0.70316	0.3210	M	0.65498	2.005	0.45867	D	0.998728	D;D;D	0.54207	0.957;0.957;0.965	P;P;P	0.60473	0.779;0.779;0.875	T	0.71217	-0.4658	10	0.49607	T	0.09	-33.8685	6.99	0.24750	0.0:0.7975:0.0:0.2025	.	786;788;786	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	R	780;786;788;786;786;786	ENSP00000434383:G780R;ENSP00000155858:G786R;ENSP00000387965:G788R;ENSP00000434121:G786R;ENSP00000436809:G786R	ENSP00000155858:G786R	G	-	1	0	TRPM5	2390059	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.137000	0.58010	2.257000	0.74773	0.591000	0.81541	GGC		0.562	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555	Missense_Mutation	46	101	0	0	0	1	0	46	101					G	2433483	C	G	2433483	5	3	246	1	0	0	0	0	0	0	1	0	16586	637	22	4	1177	4	TRPM5	11	2433483	Splice_Site	SNP	C	TCGA-EM-A2CJ-01A-11D-A17V-08		2433483	132573033	9	4367											
ERGIC2	51290	broad.mit.edu	37	12	29509405	29509405	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr12:29509405T>C	ENST00000360150.4	-	8	557	c.482A>G	c.(481-483)gAt>gGt	p.D161G		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	161					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.D161A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TGATGAATCATCTTCTCTGTT	0.308																																						uc001riv.3																			1	Substitution - Missense(1)	p.D161A(2)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(481-483)gAt>gGt		Homo sapiens ERGIC and golgi 2 (ERGIC2), mRNA.	Arsenic trioxide(DB01169)						121	117	118					12																	29509405		1814	4086	5900	SO:0001583	missense	51290				vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|nucleus		g.chr12:29509405T>C	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.482A>G	12.37:g.29509405T>C	ENSP00000353270:p.Asp161Gly		Somatic				ERGIC2_uc001riw.3_Non-coding_Transcript	p.D161G	NM_016570	NP_057654	WXS	Illumina GAIIx	Phase_I	Q96RQ1	ERGI2_HUMAN			7	615	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		161					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.482A>G	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.95|10.95	1.495052|1.495052	0.26774|0.26774	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023;ENST00000546839;ENST00000550353;ENST00000552132|ENST00000551467	.|.	.|.	.|.	4.96|4.96	3.78|3.78	0.43462|0.43462	.|.	0.101889|.	0.64402|.	D|.	0.000003|.	T|T	0.62660|0.62660	0.2446|0.2446	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.19445|.	0.036|.	B|.	0.21917|.	0.037|.	T|T	0.59064|0.59064	-0.7524|-0.7524	9|5	0.19147|.	T|.	0.46|.	.|.	9.9219|9.9219	0.41470|0.41470	0.0:0.0:0.1718:0.8281|0.0:0.0:0.1718:0.8281	.|.	161|.	Q96RQ1|.	ERGI2_HUMAN|.	G|V	161;169;161;143;161|18	.|.	ENSP00000201023:D169G|.	D|M	-|-	2|1	0|0	ERGIC2|ERGIC2	29400672|29400672	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.937000|0.937000	0.57800|0.57800	5.444000|5.444000	0.66587|0.66587	0.710000|0.710000	0.31997|0.31997	0.477000|0.477000	0.44152|0.44152	GAT|ATG		0.308	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		4	76	0	0	0	1	0	4	76					C	29509405	T	C	29509405	3	2	246	1	0	0	0	0	1	0	0	0	5224	1435	50	3	679	3	ERGIC2	12	29509405	Missense_Mutation	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		29509405	104342490	10	4368											
MYO5A	4644	broad.mit.edu	37	15	52605985	52605985	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:52605985G>A	ENST00000399231.3	-	41	5719	c.5476C>T	c.(5476-5478)Cct>Tct	p.P1826S	MYO5A_ENST00000399233.2_Missense_Mutation_p.P1823S|MYO5A_ENST00000358212.6_Missense_Mutation_p.P1851S|MYO5A_ENST00000356338.6_Missense_Mutation_p.P1799S|MYO5A_ENST00000553916.1_Missense_Mutation_p.P1824S	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1826					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAGGTGACAGGAAAGATGTGT	0.473																																						uc002aby.2																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5476-5478)Cct>Tct		Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.							121	119	120					15																	52605985		1885	4121	6006	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr15:52605985G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5476C>T	15.37:g.52605985G>A	ENSP00000382177:p.Pro1826Ser		Somatic				MYO5A_uc002abx.3_Missense_Mutation_p.P1799S|MYO5A_uc010ugd.1_Missense_Mutation_p.P548S	p.P1826S	NM_000259	NP_000250	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	40	5720	-			1826					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.5476C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956632	0.73902	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.19	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	M	0.84683	2.71	0.80722	D	1	P;P;B	0.47106	0.89;0.881;0.11	B;P;B	0.45071	0.408;0.468;0.029	D	0.91973	0.5588	10	0.72032	D	0.01	.	20.2216	0.98326	0.0:0.0:1.0:0.0	.	556;1826;1799	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	S	1826;1333;1823;1799;1851;1429;1824	ENSP00000382177:P1826S;ENSP00000382179:P1823S;ENSP00000348693:P1799S;ENSP00000350945:P1851S;ENSP00000451109:P1824S	ENSP00000348693:P1799S	P	-	1	0	MYO5A	50393277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.724000	0.74747	2.860000	0.98153	0.655000	0.94253	CCT		0.473	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		4	59	0	0	0	1	0	4	59					A	52605985	G	A	52605985	3	1	246	1	0	0	0	0	1	0	0	0	10078	1174	41	2	95	2	MYO5A	15	52605985	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08		52605985	49925407	11	4369											
RPL4	6124	broad.mit.edu	37	15	66792426	66792426	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr15:66792426G>A	ENST00000307961.6	-	9	1098	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SNAPC5_ENST00000563480.2_5'Flank|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.R242C|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000395589.2_5'Flank|SNORD16_ENST00000362803.1_RNA|SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000316634.5_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	336					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)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGTTCCGGCGCATGGTCTTT	0.448																																						uc002apv.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1006-1008)Cgc>Tgc		Homo sapiens ribosomal protein L4 (RPL4), mRNA.							90	79	82					15																	66792426		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome	g.chr15:66792426G>A	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1006C>T	15.37:g.66792426G>A	ENSP00000311430:p.Arg336Cys		Somatic				SNAPC5_uc002apu.1_5'Flank|RPL4_uc002apx.3_Missense_Mutation_p.R242C	p.R336C	NM_000968	NP_000959	WXS	Illumina GAIIx	Phase_I	P36578	RL4_HUMAN			8	1071	-			336					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.1006C>T	CCDS10218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.400612|4.400612	0.83120|0.83120	.|.	.|.	ENSG00000174444|ENSG00000174444	ENST00000449253|ENST00000307961;ENST00000432669	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70456|0.70456	0.3226|0.3226	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	.|P	.|0.48089	.|0.905	.|P	.|0.47786	.|0.557	T|T	0.76372|0.76372	-0.2983|-0.2983	6|9	0.02654|0.87932	T|D	1|0	-4.5244|-4.5244	13.8452|13.8452	0.63463|0.63463	0.0:0.0:0.8473:0.1526|0.0:0.0:0.8473:0.1526	.|.	.|336	.|P36578	.|RL4_HUMAN	V|C	135|336	.|.	ENSP00000403183:A135V|ENSP00000311430:R336C	A|R	-|-	2|1	0|0	RPL4|RPL4	64579480|64579480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.242000|5.242000	0.65389|0.65389	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.448	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		12	70	0	0	0	1	0	12	70					A	66792426	G	A	66792426	3	1	246	1	0	0	0	0	1	0	0	0	13595	1087	38	1	285	1	RPL4	15	66792426	Missense_Mutation	SNP	G	TCGA-EM-A2CJ-01A-11D-A17V-08	14186441	66792426	35738966	12	4370											
MYH1	4619	broad.mit.edu	37	17	10404034	10404034	+	Silent	SNP	A	A	G			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr17:10404034A>G	ENST00000226207.5	-	28	3868	c.3774T>C	c.(3772-3774)gaT>gaC	p.D1258D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1258					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACTCAGTTGATCTTCTAGAG	0.468																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3772-3774)gaT>gaC		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							162	142	148					17																	10404034		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:10404034A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3774T>C	17.37:g.10404034A>G			Somatic				AK097500_uc002gml.1_Intron	p.D1258D	NM_005963	NP_005954	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			27	3868	-			1258					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.3774T>C	CCDS11155.1																																																																																				0.468	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		4	90	0	0	0	1	0	4	90					G	10404034	A	G	10404034	2	3	246	1	0	0	0	0	0	0	0	1	10029	330	12	3		3	MYH1	17	10404034	Silent	SNP	A	TCGA-EM-A2CJ-01A-11D-A17V-08		10404034	70791176	13	4371											
TCF3	6929	broad.mit.edu	37	19	1627410	1627410	+	Missense_Mutation	SNP	C	C	T	rs535762587		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:1627410C>T	ENST00000262965.5	-	6	658	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	TCF3_ENST00000395423.3_Missense_Mutation_p.R54Q|TCF3_ENST00000588136.1_Missense_Mutation_p.R105Q|TCF3_ENST00000344749.5_Missense_Mutation_p.R105Q|TCF3_ENST00000453954.2_Missense_Mutation_p.R21Q	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		ATAGGCGCCCCGCTCACCGCT	0.617			T	"PBX1, HLF, TFPT"	pre B-ALL								C|||	1	0.000199681	0	0	5008	,	,		13811	0.001		0	False		,,,				2504	0					uc002ltq.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(160-162)cGg>cAg		Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.							20	24	22					19																	1627410		2187	4297	6484	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1627410C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.314G>A	19.37:g.1627410C>T	ENSP00000262965:p.Arg105Gln		Somatic				TCF3_uc002ltt.4_Missense_Mutation_p.R105Q|TCF3_uc002ltr.3_Missense_Mutation_p.R105Q|TCF3_uc002lts.1_Missense_Mutation_p.R21Q	p.R54Q	NM_003200	NP_003191	WXS	Illumina GAIIx	Phase_I	P15923	TFE2_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	200	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	105					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.161G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627406	0.66901	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.69175	-0.38;-0.38;-0.38	3.48	2.41	0.29592	.	0.071564	0.51477	D	0.000090	T	0.78704	0.4325	M	0.78916	2.43	0.36532	D	0.870774	D;D;D	0.89917	1.0;0.999;0.999	P;D;P	0.72625	0.902;0.978;0.836	T	0.82663	-0.0346	10	0.87932	D	0	-8.8555	9.929	0.41510	0.2048:0.7951:0.0:0.0	.	105;105;54	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	Q	105;105;105;54	ENSP00000262965:R105Q;ENSP00000344375:R105Q;ENSP00000378813:R54Q	ENSP00000262965:R105Q	R	-	2	0	TCF3	1578410	0.876000	0.30132	0.788000	0.31933	0.030000	0.12068	2.604000	0.46274	0.777000	0.33496	0.462000	0.41574	CGG		0.617	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		9	11	0	0	0	1	0	9	11					T	1627410	C	T	1627410	3	4	246	1	0	0	0	0	1	0	0	0	15691	652	23	1	1937	1	TCF3	19	1627410	Missense_Mutation	SNP	C	TCGA-EM-A2CJ-01A-11D-A17V-08		1627410	57501573	14	4372											
MUC16	94025	broad.mit.edu	37	19	9049003	9049003	+	Silent	SNP	T	T	A			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr19:9049003T>A	ENST00000397910.4	-	5	32831	c.32628A>T	c.(32626-32628)ggA>ggT	p.G10876G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10878	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						GGGTCACTACTCCTGGTACCT	0.478																																						uc002mkp.3																			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.(32626-32628)ggA>ggT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							100	90	93					19																	9049003		1931	4130	6061	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049003T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32628A>T	19.37:g.9049003T>A			Somatic					p.G10876G	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			4	32832	-			10878			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32628A>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	110	0	0	0	1	0	14	110					A	9049003	T	A	9049003	2	1	246	1	0	0	0	0	0	0	0	1	9973	1538	54	5		5	MUC16	19	9049003	Silent	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08	7421593	9049003	50079980	15	4373											
CHMP4B	128866	broad.mit.edu	37	20	32440008	32440009	+	Splice_Site	DNP	CG	CG	AT	rs201373276		TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chr20:32440008_32440009CG>AT	ENST00000217402.2	+	4	774_775	c.609_610CG>AT	c.(607-612)ccCGcc>ccATcc	p.A204S		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	204					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						CATCAAAACCCGGTGAGTGCTT	0.495																																						uc002xaa.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.e4+1		Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA.																																				SO:0001630	splice_region_variant	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32440008_32440009CG>AT	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	Exception_encountered	20.37:g.32440008_32440009delinsAT			Somatic					p.A204_splice	NM_176812	NP_789782	WXS	Illumina GAIIx	Phase_I	Q9H444	CHM4B_HUMAN			4	775	+			204					E1P5N4|Q53ZD6	Splice_Site	DNP	ENST00000217402.2	37	c.610_splice	CCDS13228.1																																																																																				0.495	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2		Missense_Mutation	5	176	0	0	0	1	0	5	176					AT	32440009	CG	AT	32440008	5	1	246	1	0	0	0	0	0	0	1	0	3357	666	23	4	623	4	CHMP4B	20	32440008	Splice_Site	DNP	CG	TCGA-EM-A2CJ-01A-11D-A17V-08		32440008	30585512	16	4374											
ALG13	79868	broad.mit.edu	37	X	110951444	110951444	+	Silent	SNP	T	T	C			TCGA-EM-A2CJ-01A-11D-A17V-08	TCGA-EM-A2CJ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d71fe053-8273-4eaa-963a-3404ac0e5d83	45f2c6ed-96be-4e86-8e93-1eb61a6a09ac	g.chrX:110951444T>C	ENST00000394780.3	+	4	585	c.573T>C	c.(571-573)gcT>gcC	p.A191A	ALG13_ENST00000251943.4_Silent_p.A87A|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	191	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTTGCCACGCTTTTTTTCCTC	0.483																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(571-573)gcT>gcC		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							133	111	118					X																	110951444		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	g.chrX:110951444T>C	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.573T>C	X.37:g.110951444T>C			Somatic				ALG13_uc011msw.2_Silent_p.A113A|ALG13_uc011msx.2_Silent_p.A87A|ALG13_uc011msz.2_Silent_p.A113A|ALG13_uc011mta.2_Silent_p.A87A|ALG13_uc011mtb.2_Silent_p.A87A	p.A191A	NM_001099922	NP_001093392	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			3	674	+			191					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.573T>C	CCDS55477.1																																																																																				0.483	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		3	84	0	0	0	1	0	3	84					C	110951444	T	C	110951444	2	2	246	1	0	0	0	0	0	0	0	1	515	1596	56	3		3	ALG13	23	110951444	Silent	SNP	T	TCGA-EM-A2CJ-01A-11D-A17V-08		110951444	44319116	17	4375											
FHL3	2275	broad.mit.edu	37	1	38463709	38463709	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr1:38463709G>C	ENST00000373016.3	-	4	595	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																						uc001cck.3																			1	Substitution - Missense(1)	p.P143S(2)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(427-429)Ccc>Gcc		Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.							92	93	92					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>C	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>G	1.37:g.38463709G>C	ENSP00000362107:p.Pro143Ala		Somatic				FHL3_uc001ccm.3_Missense_Mutation_p.P35A|FHL3_uc009vvl.2_Missense_Mutation_p.P143A	p.P143A	NM_004468	NP_004459	WXS	Illumina GAIIx	Phase_I	Q13643	FHL3_HUMAN			3	606	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>G	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743799	0.89663	.	.	ENSG00000183386	ENST00000373016	D	0.86562	-2.14	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91590	0.7343	L	0.45470	1.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.91944	0.5565	10	0.56958	D	0.05	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	A	143	ENSP00000362107:P143A	ENSP00000362107:P143A	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		47	81	0	0	0	1	0	47	81					C	38463709	G	C	38463709	3	2	247	1	0	0	0	0	1	0	0	0	5880	1203	42	4	427	4	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		38463709	210786912	1	4376											
MOG	4340	broad.mit.edu	37	6	29639214	29639214	+	3'UTR	SNP	C	C	G			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr6:29639214C>G	ENST00000376917.3	+	0	1225				MOG_ENST00000376888.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.A203G|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000431798.2_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.A226G|MOG_ENST00000376898.3_Missense_Mutation_p.A249G|MOG_ENST00000396701.2_Missense_Mutation_p.A210G|MOG_ENST00000376894.4_3'UTR	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CACCTGGAAGCCCTCTCTGGC	0.488																																						uc003nne.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(745-747)gCc>gGc		Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant beta1, mRNA.							108	115	113					6																	29639214		1511	2709	4220	SO:0001624	3_prime_UTR_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29639214C>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.*252C>G	6.37:g.29639214C>G			Somatic				MOG_uc003nna.3_3'UTR|MOG_uc011dlt.2_3'UTR|MOG_uc011dlv.2_3'UTR|MOG_uc011dlu.2_3'UTR|MOG_uc003nnf.3_3'UTR|MOG_uc003nng.3_Missense_Mutation_p.A226G|MOG_uc003nni.3_3'UTR|MOG_uc003nnh.3_Missense_Mutation_p.A210G|MOG_uc003nnj.3_3'UTR|MOG_uc003nnk.3_Missense_Mutation_p.A203G	p.A249G	NM_002433	NP_002424	WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			7	975	+			0					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.746C>G	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298622	0.10622	.	.	ENSG00000204655	ENST00000376891;ENST00000376898;ENST00000396701;ENST00000494692	T;T;T;T	0.06768	3.38;3.38;3.31;3.26	3.94	-1.04	0.10068	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.47235	-0.9133	9	0.72032	D	0.01	.	4.13	0.10144	0.0:0.418:0.1725:0.4095	.	203;210;226;249	F8W9D5;Q16653-6;Q16653-7;Q16653-5	.;.;.;.	G	203;249;210;226	ENSP00000366088:A203G;ENSP00000366095:A249G;ENSP00000379929:A210G;ENSP00000417405:A226G	ENSP00000366088:A203G	A	+	2	0	MOG	29747193	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.659000	0.05323	-0.231000	0.09825	-1.019000	0.02448	GCC		0.488	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		40	66	0	0	0	1	0	40	66					G	29639214	C	G	29639214	1	3	247	0	1	0	0	0	0	0	0	0	9693	739	26	4		4	MOG	6	29639214	3'UTR	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		29639214	141475853	2	4377											
PCM1	5108	broad.mit.edu	37	8	17830011	17830011	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr8:17830011T>G	ENST00000519253.1	+	23	4009	c.3758T>G	c.(3757-3759)tTt>tGt	p.F1253C	PCM1_ENST00000524226.1_Missense_Mutation_p.F1254C|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000325083.8_Missense_Mutation_p.F1253C			Q15154	PCM1_HUMAN	pericentriolar material 1	1253					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGACGCCAGTTTGATGAAGAA	0.393			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	uc022asj.1				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(3874-3876)tTt>tGt		Homo sapiens pericentriolar material 1 (PCM1), mRNA.							101	96	97					8																	17830011		1864	4097	5961	SO:0001583	missense	5108				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17830011T>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3758T>G	8.37:g.17830011T>G	ENSP00000431099:p.Phe1253Cys		Somatic				PCM1_uc003wyi.4_Missense_Mutation_p.F1253C|PCM1_uc011kyh.2_Missense_Mutation_p.F1253C|PCM1_uc003wyj.4_Missense_Mutation_p.F1254C|PCM1_uc011kyi.2_Missense_Mutation_p.F115C|PCM1_uc011kyj.2_5'UTR|PCM1_uc003wyk.4_5'UTR	p.F1292C	NM_006197	NP_006188	WXS	Illumina GAIIx	Phase_I	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	21	3897	+			1253			Interaction with HAP1.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.3875T>G		.	.	.	.	.	.	.	.	.	.	T	14.41	2.528155	0.44969	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.58210	0.35;0.35;0.35	4.81	3.55	0.40652	.	0.140080	0.64402	D	0.000002	T	0.64000	0.2559	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.72338	0.935;0.977;0.891;0.977	T	0.67284	-0.5709	10	0.87932	D	0	-18.147	11.7603	0.51898	0.0:0.0:0.147:0.853	.	115;1253;1254;1253	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	C	1253;1253;1254	ENSP00000327077:F1253C;ENSP00000431099:F1253C;ENSP00000430521:F1254C	ENSP00000327077:F1253C	F	+	2	0	PCM1	17874291	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	3.518000	0.53451	2.104000	0.64026	0.260000	0.18958	TTT		0.393	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		6	94	0	0	0	1	0	6	94					G	17830011	T	G	17830011	3	3	247	1	0	0	0	0	1	0	0	0	11584	1841	64	5	3840	5	PCM1	8	17830011	Missense_Mutation	SNP	T	TCGA-EM-A2CK-01A-11D-A17V-08		17830011	128534011	3	4378											
CYP11B1	1584	broad.mit.edu	37	8	143957756	143957756	+	Missense_Mutation	SNP	C	C	G	rs191126800		TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr8:143957756C>G	ENST00000292427.4	-	5	887	c.855G>C	c.(853-855)caG>caC	p.Q285H	CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q356H|CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q285H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	285					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGCTGGTGTACTGTTGAGGGC	0.582									Familial Hyperaldosteronism type I																													uc010mey.3																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1066-1068)caG>caC		Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Mitotane(DB00648)						116	97	103					8																	143957756		2203	4300	6503	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957756C>G	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.855G>C	8.37:g.143957756C>G	ENSP00000292427:p.Gln285His		Somatic				CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'UTR|CYP11B1_uc003yxi.3_Missense_Mutation_p.Q285H|CYP11B1_uc003yxj.3_Missense_Mutation_p.Q285H	p.Q356H	NM_000497	NP_000488	WXS	Illumina GAIIx	Phase_I	P15538	C11B1_HUMAN			6	1075	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		285					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1068G>C	CCDS6392.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	0.375	-0.931636	0.02359	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.68331	-0.32;2.71;-0.32	3.73	-3.33	0.04958	.	1.408720	0.04589	N	0.396335	T	0.33933	0.0880	N	0.01771	-0.73	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	0.09773	-1.0659	10	0.28530	T	0.3	.	3.2163	0.06700	0.0951:0.3757:0.2981:0.2311	.	356;285;285	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	H	285;285;356	ENSP00000292427:Q285H;ENSP00000428043:Q285H;ENSP00000366903:Q356H	ENSP00000292427:Q285H	Q	-	3	2	CYP11B1	143954758	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.616000	0.02053	-0.502000	0.06596	-0.153000	0.13522	CAG		0.582	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			4	43	0	0	0	1	0	4	43					G	143957756	C	G	143957756	3	3	247	1	0	0	0	0	1	0	0	0	4145	564	20	4	676	4	CYP11B1	8	143957756	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08	126127745	143957756	2406266	4	4379											
LRRC8A	56262	broad.mit.edu	37	9	131670993	131670993	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr9:131670993C>T	ENST00000259324.5	+	3	2073	c.1550C>T	c.(1549-1551)aCa>aTa	p.T517I	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T517I|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T517I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	517					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						AGCCTGAAGACACTGGAGGAG	0.622																																						uc004bwl.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1549-1551)aCa>aTa		Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.							41	38	39					9																	131670993		2203	4299	6502	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670993C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1550C>T	9.37:g.131670993C>T	ENSP00000259324:p.Thr517Ile		Somatic				LRRC8A_uc010myp.3_Missense_Mutation_p.T517I|LRRC8A_uc010myq.3_Missense_Mutation_p.T517I	p.T517I	NM_019594	NP_062540	WXS	Illumina GAIIx	Phase_I	Q8IWT6	LRC8A_HUMAN			2	1804	+			517					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1550C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228519	0.22542	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.25250	1.81;1.81;1.81	5.67	5.67	0.87782	.	0.045666	0.85682	D	0.000000	T	0.21674	0.0522	L	0.35414	1.06	0.47341	D	0.999391	B	0.32128	0.357	B	0.31191	0.125	T	0.03077	-1.1075	10	0.72032	D	0.01	.	13.7042	0.62627	0.1539:0.846:0.0:0.0	.	517	Q8IWT6	LRC8A_HUMAN	I	517	ENSP00000361682:T517I;ENSP00000361680:T517I;ENSP00000259324:T517I	ENSP00000259324:T517I	T	+	2	0	LRRC8A	130710814	1.000000	0.71417	0.971000	0.41717	0.618000	0.37518	5.270000	0.65547	2.677000	0.91161	0.561000	0.74099	ACA		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		15	41	0	0	0	1	0	15	41					T	131670993	C	T	131670993	3	4	247	1	0	0	0	0	1	0	0	0	9021	478	17	2	1552	2	LRRC8A	9	131670993	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		131670993	9542438	5	4380											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		52	72	0	0	0	1	0	52	72					C	533874	T	C	533874	3	2	247	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EM-A2CK-01A-11D-A17V-08		533874	134472642	6	4381											
TEX14	56155	broad.mit.edu	37	17	56690784	56690784	+	Nonsense_Mutation	SNP	G	G	A	rs141801212	byFrequency	TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr17:56690784G>A	ENST00000240361.8	-	9	1106	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.R335*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.R335*			Q8IWB6	TEX14_HUMAN	testis expressed 14	341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGTTTACTCGTTCATGAAGG	0.517																																						uc010dcz.2																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1021-1023)Cga>Tga		Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	169	142	151		1021,1003,1003	3.4	1.0	17	dbSNP_134	151	11,8589	8.4+/-32.0	0,11,4289	yes	stop-gained,stop-gained,stop-gained	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	,,	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	,,	341/1498,335/1452,335/1492	56690784	11,12995	2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56690784G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1021C>T	17.37:g.56690784G>A	ENSP00000240361:p.Arg341*		Somatic				TEX14_uc002iwr.2_Nonsense_Mutation_p.R335*|TEX14_uc002iws.2_Nonsense_Mutation_p.R335*|TEX14_uc010dda.2_Nonsense_Mutation_p.R115*	p.R341*	NM_001201457	NP_001188386	WXS	Illumina GAIIx	Phase_I	Q8IWB6	TEX14_HUMAN			8	1139	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		341			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.1021C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883996	0.72410	0.0	0.001279	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.56	3.37	0.38596	.	0.207947	0.31922	N	0.006848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2887	11.1548	0.48480	0.0:0.0:0.4641:0.5359	.	.	.	.	X	341;335;335	.	ENSP00000240361:R341X	R	-	1	2	TEX14	54045783	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	2.179000	0.42528	1.266000	0.44231	0.561000	0.74099	CGA		0.517	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			41	75	0	0	0	1	0	41	75					A	56690784	G	A	56690784	4	1	247	1	0	0	0	0	0	1	0	0	15775	1153	40	1	3572	1	TEX14	17	56690784	Nonsense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		56690784	24504426	7	4382											
CHST8	64377	broad.mit.edu	37	19	34262953	34262953	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr19:34262953G>A	ENST00000262622.4	+	4	1018	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CHST8_ENST00000434302.1_Missense_Mutation_p.R87H|CHST8_ENST00000438847.3_Missense_Mutation_p.R87H	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	87					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCGAGGGGCCGCAACCTGCCA	0.667																																						uc002nus.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(259-261)cGc>cAc		Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.							17	25	22					19																	34262953		2199	4288	6487	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34262953G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.260G>A	19.37:g.34262953G>A	ENSP00000262622:p.Arg87His		Somatic				CHST8_uc002nut.4_Missense_Mutation_p.R87H|CHST8_uc002nuu.3_Missense_Mutation_p.R87H	p.R87H	NM_001127895	NP_071912	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	765	+	Esophageal squamous(110;0.162)		87					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.260G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	8.132	0.783196	0.16189	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74947	-0.89;-0.89;-0.89	5.08	-3.33	0.04958	.	3.107070	0.01595	N	0.021742	T	0.48537	0.1505	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	10	0.15066	T	0.55	-19.8577	2.5765	0.04807	0.1187:0.259:0.4067:0.2156	.	87	Q9H2A9	CHST8_HUMAN	H	87	ENSP00000392604:R87H;ENSP00000393879:R87H;ENSP00000262622:R87H	ENSP00000262622:R87H	R	+	2	0	CHST8	38954793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.054000	0.14205	-0.291000	0.09012	-1.442000	0.01069	CGC		0.667	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		14	30	0	0	0	1	0	14	30					A	34262953	G	A	34262953	3	1	247	1	0	0	0	0	1	0	0	0	3410	1087	38	1	270	1	CHST8	19	34262953	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08		34262953	24866030	8	4383											
LRFN3	79414	broad.mit.edu	37	19	36430922	36430922	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr19:36430922G>A	ENST00000588831.1	+	3	1649	c.595G>A	c.(595-597)Gct>Act	p.A199T	LRFN3_ENST00000246529.3_Missense_Mutation_p.A199T			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	199					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)			GCCCGCCGGCGCTTTTTCCCG	0.677																																						uc002oco.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(595-597)Gct>Act		Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.							66	81	76					19																	36430922		2197	4282	6479	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430922G>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.595G>A	19.37:g.36430922G>A	ENSP00000466989:p.Ala199Thr		Somatic					p.A199T	NM_024509	NP_078785	WXS	Illumina GAIIx	Phase_I	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		1	1047	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		199					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.595G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328162	0.10956	.	.	ENSG00000126243	ENST00000246529	T	0.60299	0.2	4.49	4.49	0.54785	.	0.000000	0.33023	N	0.005366	T	0.28067	0.0692	N	0.04063	-0.285	0.33812	D	0.627932	B	0.32040	0.353	B	0.31495	0.131	T	0.40289	-0.9571	10	0.06494	T	0.89	.	8.8485	0.35186	0.1046:0.0:0.8954:0.0	.	199	Q9BTN0	LRFN3_HUMAN	T	199	ENSP00000246529:A199T	ENSP00000246529:A199T	A	+	1	0	LRFN3	41122762	0.018000	0.18449	1.000000	0.80357	0.978000	0.69477	2.318000	0.43779	2.192000	0.70111	0.557000	0.71058	GCT		0.677	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		74	156	0	0	0	1	0	74	156					A	36430922	G	A	36430922	3	1	247	1	0	0	0	0	1	0	0	0	8939	1087	38	1	597	1	LRFN3	19	36430922	Missense_Mutation	SNP	G	TCGA-EM-A2CK-01A-11D-A17V-08	2167969	36430922	22698061	9	4384											
UBOX5	22888	broad.mit.edu	37	20	3090865	3090865	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CK-01A-11D-A17V-08	TCGA-EM-A2CK-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83e36900-8a9a-4356-94d0-ca431a535382	68d9273f-e401-4444-a139-1cb3ae1f89f5	g.chr20:3090865C>T	ENST00000217173.2	-	5	1984	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	UBOX5-AS1_ENST00000454019.1_RNA|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.G451S	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AGGAGGTGGCCGCAGGGCAGC	0.627																																						uc002whw.3																			0				endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						c.(1513-1515)Ggc>Agc		Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA.							68	76	73					20																	3090865		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3090865C>T	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"RING-type (C3HC4) zinc fingers", "U-box domain containing"	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1513G>A	20.37:g.3090865C>T	ENSP00000217173:p.Gly505Ser		Somatic				LOC100134015_uc002whv.1_Intron|UBOX5_uc002whx.3_Missense_Mutation_p.G451S|UBOX5_uc002why.1_Missense_Mutation_p.R503Q	p.G505S	NM_014948	NP_055763	WXS	Illumina GAIIx	Phase_I	O94941	RNF37_HUMAN			4	1683	-			505						Missense_Mutation	SNP	ENST00000217173.2	37	c.1513G>A	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396056	0.83011	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.66638	-0.22;-0.22	5.04	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.182346	0.47093	U	0.000251	T	0.70211	0.3198	L	0.42245	1.32	0.40461	D	0.98024	D;D	0.63880	0.993;0.993	P;P	0.55087	0.768;0.601	T	0.73764	-0.3880	10	0.62326	D	0.03	-12.2613	14.1105	0.65118	0.0:0.9246:0.0:0.0754	.	451;505	Q86X87;O94941	.;RNF37_HUMAN	S	505;451	ENSP00000217173:G505S;ENSP00000311726:G451S	ENSP00000217173:G505S	G	-	1	0	UBOX5	3038865	0.982000	0.34865	0.998000	0.56505	0.911000	0.54048	2.373000	0.44266	2.497000	0.84241	0.561000	0.74099	GGC		0.627	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		5	154	0	0	0	1	0	5	154					T	3090865	C	T	3090865	3	4	247	1	0	0	0	0	1	0	0	0	16891	652	23	1	116	1	UBOX5	20	3090865	Missense_Mutation	SNP	C	TCGA-EM-A2CK-01A-11D-A17V-08		3090865	59934655	10	4385											
LRRIQ3	127255	broad.mit.edu	37	1	74492567	74492567	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:74492567T>C	ENST00000395089.1	-	7	1804	c.1805A>G	c.(1804-1806)gAt>gGt	p.D602G	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.D602G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	602										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						TGTTTTAGCATCTTGAAGTCT	0.313																																						uc001dfy.4																			0				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.(1804-1806)gAt>gGt		Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.							113	102	105					1																	74492567		1811	4061	5872	SO:0001583	missense	127255							g.chr1:74492567T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1805A>G	1.37:g.74492567T>C	ENSP00000378524:p.Asp602Gly		Somatic				LRRIQ3_uc001dfz.4_Non-coding_Transcript	p.D602G	NM_001105659	NP_001099129	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			7	1997	-			602					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1805A>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	9.898	1.206137	0.22205	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10860	2.83;2.83	5.05	5.05	0.67936	.	.	.	.	.	T	0.04227	0.0117	N	0.24115	0.695	0.19775	N	0.999958	P	0.45044	0.849	B	0.42798	0.398	T	0.26360	-1.0105	9	0.66056	D	0.02	.	11.7524	0.51855	0.0:0.0:0.0:1.0	.	602	A6PVS8	LRIQ3_HUMAN	G	602	ENSP00000378524:D602G;ENSP00000346414:D602G	ENSP00000346414:D602G	D	-	2	0	LRRIQ3	74265155	0.325000	0.24660	0.726000	0.30738	0.021000	0.10359	2.217000	0.42880	2.203000	0.70933	0.533000	0.62120	GAT		0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		10	18	0	0	0	1	0	10	18					C	74492567	T	C	74492567	3	2	248	1	0	0	0	0	1	0	0	0	9030	1435	50	3	73	3	LRRIQ3	1	74492567	Missense_Mutation	SNP	T	TCGA-EM-A2CL-01A-11D-A17V-08		74492567	174758054	1	4386											
AGL	178	broad.mit.edu	37	1	100327958	100327958	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:100327958C>T	ENST00000294724.4	+	4	917	c.439C>T	c.(439-441)Ctt>Ttt	p.L147F	AGL_ENST00000370163.3_Missense_Mutation_p.L147F|AGL_ENST00000370161.2_Missense_Mutation_p.L131F|AGL_ENST00000361915.3_Missense_Mutation_p.L147F|AGL_ENST00000370165.3_Missense_Mutation_p.L147F|AGL_ENST00000361522.4_Missense_Mutation_p.L130F|AGL_ENST00000361302.3_Missense_Mutation_p.L131F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	147					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAAAGCAGACTTAGGGTTGC	0.343																																						uc001dsi.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(439-441)Ctt>Ttt		Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.							198	186	190					1																	100327958		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100327958C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.439C>T	1.37:g.100327958C>T	ENSP00000294724:p.Leu147Phe		Somatic				AGL_uc001dsj.1_Missense_Mutation_p.L147F|AGL_uc001dsk.1_Missense_Mutation_p.L147F|AGL_uc001dsl.1_Missense_Mutation_p.L147F|AGL_uc001dsm.1_Missense_Mutation_p.L131F|AGL_uc001dsn.1_Missense_Mutation_p.L130F	p.L147F	NM_000642	NP_000635	WXS	Illumina GAIIx	Phase_I	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	3	839	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	147					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.439C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763426	0.89932	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.53	4.6	0.57074	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.142674	0.48767	D	0.000177	D	0.91236	0.7238	L	0.60957	1.885	0.80722	D	1	D;D;P	0.58970	0.984;0.984;0.905	D;D;P	0.63113	0.911;0.911;0.816	D	0.89902	0.4045	10	0.30854	T	0.27	.	15.5291	0.75936	0.1394:0.8606:0.0:0.0	.	130;131;147	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	F	147;147;147;147;131;131;130	ENSP00000355106:L147F;ENSP00000359184:L147F;ENSP00000359182:L147F;ENSP00000294724:L147F;ENSP00000354971:L131F;ENSP00000359180:L131F;ENSP00000354635:L130F	ENSP00000294724:L147F	L	+	1	0	AGL	100100546	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	4.860000	0.62961	1.290000	0.44636	0.655000	0.94253	CTT		0.343	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		64	58	0	0	0	1	0	64	58					T	100327958	C	T	100327958	3	4	248	1	0	0	0	0	1	0	0	0	384	565	20	2	518	2	AGL	1	100327958	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08	25835391	100327958	148922663	2	4387											
OR2L13	284521	broad.mit.edu	37	1	248263034	248263034	+	Silent	SNP	C	C	T			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr1:248263034C>T	ENST00000358120.2	+	2	502	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_ENST00000366478.2_Silent_p.Y119Y			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y119Y(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CCATGGCCTACGACCGTTATT	0.512																																						uc001ids.3																			2	Substitution - coding silent(2)	p.Y119Y(3)|p.A118E(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(355-357)taC>taT		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							221	206	211					1																	248263034		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263034C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.357C>T	1.37:g.248263034C>T			Somatic				OR2L13_uc021pmc.1_Silent_p.Y119Y	p.Y119Y	NM_175911	NP_787107	WXS	Illumina GAIIx	Phase_I	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	694	+	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)		119					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.357C>T	CCDS1637.1																																																																																				0.512	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		37	161	0	0	0	1	0	37	161					T	248263034	C	T	248263034	2	4	248	1	0	0	0	0	0	0	0	1	11006	547	19	1		1	OR2L13	1	248263034	Silent	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08	147935076	248263034	987587	3	4388											
GABRR2	2570	broad.mit.edu	37	6	89967652	89967652	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr6:89967652C>G	ENST00000402938.3	-	9	1268	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	GABRR2_ENST00000602399.1_Missense_Mutation_p.G404R	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	379					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTGTAGCTTCCATCCAGCATC	0.502																																						uc003pnb.2																			0		p.Q404R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1210-1212)Gga>Cga		Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.							86	78	81					6																	89967652		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	g.chr6:89967652C>G		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1135G>C	6.37:g.89967652C>G	ENSP00000386029:p.Gly379Arg		Somatic				GABRR2_uc011dzx.1_Missense_Mutation_p.G280R	p.G404R	NM_002043	NP_002034	WXS	Illumina GAIIx	Phase_I	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1218	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	404					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1210G>C	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128150	0.77549	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.92	5.05	0.67936	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.73217	2.22	0.80722	D	1	D	0.53151	0.958	P	0.58266	0.836	T	0.70605	-0.4826	8	.	.	.	.	16.453	0.83998	0.1324:0.8676:0.0:0.0	.	404	P28476	GBRR2_HUMAN	R	404	.	.	G	-	1	0	GABRR2	90024371	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.532000	0.60608	1.499000	0.48617	0.650000	0.86243	GGA		0.502	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			11	23	0	0	0	1	0	11	23					G	89967652	C	G	89967652	3	3	248	1	0	0	0	0	1	0	0	0	6177	603	21	4	266	4	GABRR2	6	89967652	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		89967652	81147415	4	4389											
SEMA7A	8482	broad.mit.edu	37	15	74708936	74708936	+	Missense_Mutation	SNP	G	G	C	rs368853845		TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr15:74708936G>C	ENST00000261918.4	-	7	1329	c.781C>G	c.(781-783)Cgt>Ggt	p.R261G	SEMA7A_ENST00000542748.1_Missense_Mutation_p.R96G|SEMA7A_ENST00000543145.2_Missense_Mutation_p.R247G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	261	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGGGCCACACGGGACACATTG	0.557																																						uc002axv.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(781-783)Cgt>Ggt		Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.							212	175	188					15																	74708936		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708936G>C	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.781C>G	15.37:g.74708936G>C	ENSP00000261918:p.Arg261Gly		Somatic				SEMA7A_uc010ulk.2_Missense_Mutation_p.R96G|SEMA7A_uc010ull.2_Missense_Mutation_p.R247G	p.R261G	NM_003612	NP_001139502	WXS	Illumina GAIIx	Phase_I	O75326	SEM7A_HUMAN			6	821	-			261			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.781C>G	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669525	0.47677	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.32272	1.46;1.46;1.46	5.39	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.70128	-0.4957	10	0.87932	D	0	-16.5352	13.8512	0.63499	0.0:0.0:0.8153:0.1847	.	247;261	F5H1S0;O75326	.;SEM7A_HUMAN	G	261;247;96	ENSP00000261918:R261G;ENSP00000438966:R247G;ENSP00000441493:R96G	ENSP00000261918:R261G	R	-	1	0	SEMA7A	72495989	1.000000	0.71417	0.989000	0.46669	0.151000	0.21798	1.140000	0.31516	2.525000	0.85131	0.655000	0.94253	CGT		0.557	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		3	62	0	0	0	1	0	3	62					C	74708936	G	C	74708936	3	2	248	1	0	0	0	0	1	0	0	0	14043	1116	39	4	1251	4	SEMA7A	15	74708936	Missense_Mutation	SNP	G	TCGA-EM-A2CL-01A-11D-A17V-08		74708936	27822456	5	4390											
MPO	4353	broad.mit.edu	37	17	56350266	56350266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr17:56350266delG	ENST00000225275.3	-	10	1811	c.1635delC	c.(1633-1635)cccfs	p.P545fs	MPO_ENST00000340482.3_Frame_Shift_Del_p.P577fs|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	545					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCCGGAGGATGGGGTCAATGC	0.572																																						uc002ivu.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1633-1635)cccfs		Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	Cefdinir(DB00535)						91	98	95					17																	56350266		2203	4300	6503	SO:0001589	frameshift_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350266delG		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1635delC	17.37:g.56350266delG	ENSP00000225275:p.Pro545fs		Somatic					p.P545fs	NM_000250	NP_000241	WXS	Illumina GAIIx	Phase_I	P05164	PERM_HUMAN			9	1812	-			545					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Frame_Shift_Del	DEL	ENST00000225275.3	37	c.1635delC	CCDS11604.1																																																																																				0.572	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			98	122						98	122	---	---	---	---	-	56350266	G	-	56350266	7	5	248	1	0	1	0	1	0	0	0	0	9732	1335	47	0	614	0	MPO	17	56350266	Frame_Shift_Del	DEL	G	TCGA-EM-A2CL-01A-11D-A17V-08		56350266	24844944	6	4391											
DIDO1	11083	broad.mit.edu	37	20	61512289	61512289	+	Silent	SNP	C	C	G			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chr20:61512289C>G	ENST00000266070.4	-	16	5344	c.5019G>C	c.(5017-5019)ccG>ccC	p.P1673P	DIDO1_ENST00000395343.1_Silent_p.P1673P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1673					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)					CGTGCTGCAGCGGGAAGCCGG	0.697																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			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.(5017-5019)ccG>ccC		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.							15	19	17					20																	61512289		2193	4268	6461	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512289C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5019G>C	20.37:g.61512289C>G			Somatic				DIDO1_uc002yds.2_Silent_p.P1673P	p.P1673P	NM_001193369	NP_149072	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			15	5331	-	Breast(26;5.68e-08)		1673					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5019G>C	CCDS33506.1																																																																																				0.697	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		3	32	0	0	0	1	0	3	32					G	61512289	C	G	61512289	2	3	248	1	0	0	0	0	0	0	0	1	4522	755	27	4		4	DIDO1	20	61512289	Silent	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		61512289	1513231	7	4392											
EIF1AX	1964	broad.mit.edu	37	X	20156732	20156732	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2CL-01A-11D-A17V-08	TCGA-EM-A2CL-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ede121e-331f-434e-a551-ffc6fc01ce0b	49a37ba7-1dd0-4758-bcf0-49e779511d7f	g.chrX:20156732C>G	ENST00000379607.5	-	2	228	c.25G>C	c.(25-27)Ggt>Cgt	p.G9R	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	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																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)Ggt>Cgt		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.							141	131	134					X																	20156732		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156732C>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.25G>C	X.37:g.20156732C>G	ENSP00000368927:p.Gly9Arg		Somatic				SCARNA9L_uc010nfp.3_5'Flank	p.G9R	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			1	233	-			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	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	EIF1AX	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			62	14	0	0	0	1	0	62	14					G	20156732	C	G	20156732	3	3	248	1	0	0	0	0	1	0	0	0	4992	681	24	4	433	4	EIF1AX	23	20156732	Missense_Mutation	SNP	C	TCGA-EM-A2CL-01A-11D-A17V-08		20156732	135113828	8	4393											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		116	172	0	0	0	1	0	116	172					C	115256529	T	C	115256529	3	2	249	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		115256529	133994092	1	4394											
HIST2H3D	653604	broad.mit.edu	37	1	149785212	149785212	+	Missense_Mutation	SNP	G	G	A	rs375383583		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr1:149785212G>A	ENST00000331491.1	-	1	24	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000369167.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	9					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GTCGACTTGCGGGCAGTCTGC	0.602																																						uc010pbl.2																			0		p.A8V(1)|p.A8A(1)		biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(25-27)Cgc>Tgc		Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.							28	29	28					1																	149785212		1557	3551	5108	SO:0001583	missense	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785212G>A	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"Histones / Replication-dependent"	25311	protein-coding gene	gene with protein product			"histone 2, H3d"				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.25C>T	1.37:g.149785212G>A	ENSP00000333277:p.Arg9Cys		Somatic				HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	p.R9C	NM_001123375	NP_001116847	WXS	Illumina GAIIx	Phase_I	Q71DI3	H32_HUMAN			0	25	-			9					A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	c.25C>T	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328210	0.24080	.	.	ENSG00000183598	ENST00000331491	T	0.48522	0.81	4.13	4.13	0.48395	.	0.000000	0.56097	U	0.000031	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59247	-0.7490	7	0.56958	D	0.05	.	15.4963	0.75653	0.0:0.0:1.0:0.0	.	.	.	.	C	9	ENSP00000333277:R9C	ENSP00000333277:R9C	R	-	1	0	HIST2H3D	148051836	1.000000	0.71417	0.975000	0.42487	0.055000	0.15305	4.173000	0.58249	2.302000	0.77476	0.436000	0.28706	CGC		0.602	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		37	49	0	0	0	1	0	37	49					A	149785212	G	A	149785212	3	1	249	1	0	0	0	0	1	0	0	0	7181	1116	39	1	387	1	HIST2H3D	1	149785212	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	34528683	149785212	99465409	2	4395											
WBP1	23559	broad.mit.edu	37	2	74685770	74685770	+	Frame_Shift_Del	DEL	G	G	-	rs566524770		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr2:74685770delG	ENST00000233615.2	+	1	315	c.41delG	c.(40-42)tggfs	p.W14fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Del_p.W14fs|WBP1_ENST00000393972.3_Frame_Shift_Del_p.W14fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	14							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGAGGCCTGGGGGGCACTT	0.632																																						uc002slj.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(40-42)tggfs		Homo sapiens WW domain binding protein 1 (WBP1), mRNA.							16	18	17					2																	74685770		2174	4255	6429	SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74685770delG	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.41delG	2.37:g.74685770delG	ENSP00000233615:p.Trp14fs		Somatic				INO80B_uc002sli.2_Intron|WBP1_uc002sll.2_Non-coding_Transcript	p.W14fs	NM_012477	NP_036609	WXS	Illumina GAIIx	Phase_I	Q96G27	WBP1_HUMAN			0	244	+			14					B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	c.41delG	CCDS1943.1																																																																																				0.632	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		2	4						2	4	---	---	---	---	-	74685770	G	-	74685770	7	5	249	1	0	1	0	1	0	0	0	0	17254	1357	47	0	43	0	WBP1	2	74685770	Frame_Shift_Del	DEL	G	TCGA-EM-A2CN-01A-11D-A19J-08		74685770	168513603	3	4396											
KLHL24	54800	broad.mit.edu	37	3	183397022	183397022	+	Missense_Mutation	SNP	A	A	G	rs143529905		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr3:183397022A>G	ENST00000454652.2	+	9	2137	c.1751A>G	c.(1750-1752)tAt>tGt	p.Y584C	KLHL24_ENST00000242810.6_Missense_Mutation_p.Y584C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	584						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAGTGTCCTATCATGGCTGT	0.463																																						uc003flv.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1750-1752)tAt>tGt		Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.		A	CYS/TYR	0,4406		0,0,2203	112	105	107		1751	6.1	1.0	3	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL24	NM_017644.3	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	584/601	183397022	1,13005	2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183397022A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1751A>G	3.37:g.183397022A>G	ENSP00000395012:p.Tyr584Cys		Somatic				KLHL24_uc003flw.3_Missense_Mutation_p.Y584C	p.Y584C	NM_017644	NP_060114	WXS	Illumina GAIIx	Phase_I	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		7	2046	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		584					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.1751A>G	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044871	0.75732	0.0	1.16E-4	ENSG00000114796	ENST00000242810;ENST00000454652	T;T	0.66995	-0.24;-0.24	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.126462	0.56097	D	0.000034	T	0.65954	0.2741	L	0.53249	1.67	0.80722	D	1	B	0.19200	0.034	B	0.27076	0.076	T	0.61192	-0.7112	10	0.40728	T	0.16	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	584	Q6TFL4	KLH24_HUMAN	C	584	ENSP00000242810:Y584C;ENSP00000395012:Y584C	ENSP00000242810:Y584C	Y	+	2	0	KLHL24	184879716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.330000	0.79161	0.477000	0.44152	TAT		0.463	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		33	36	0	0	0	1	0	33	36					G	183397022	A	G	183397022	3	3	249	1	0	0	0	0	1	0	0	0	8379	449	16	3	1773	3	KLHL24	3	183397022	Missense_Mutation	SNP	A	TCGA-EM-A2CN-01A-11D-A19J-08		183397022	14625408	4	4397											
TBC1D7	51256	broad.mit.edu	37	6	13307860	13307860	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:13307860C>T	ENST00000379300.3	-	6	880	c.637G>A	c.(637-639)Gga>Aga	p.G213R	TBC1D7_ENST00000607658.1_Missense_Mutation_p.G186R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.G213R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.G186R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.G167R|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	213	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GGCAAACATCCCGCAAAGCAC	0.483																																						uc003naj.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(637-639)Gga>Aga		Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.							115	111	112					6																	13307860		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding	g.chr6:13307860C>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.637G>A	6.37:g.13307860C>T	ENSP00000368602:p.Gly213Arg		Somatic				TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.G213R|TBC1D7_uc003nan.3_Missense_Mutation_p.G213R|TBC1D7_uc003nam.3_Missense_Mutation_p.G213R|TBC1D7_uc003nao.3_Missense_Mutation_p.G186R|TBC1D7_uc010jpd.3_Missense_Mutation_p.G167R	p.G213R	NM_016495	NP_057579	WXS	Illumina GAIIx	Phase_I	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		5	745	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	213			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.637G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463085	0.96257	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	T;T;T;T;T;T;T;T;T	0.38240	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;1.15	6.17	6.17	0.99709	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.97110	0.966;1.0;0.97;0.99	T	0.50608	-0.8808	10	0.18276	T	0.48	-22.2615	19.8676	0.96824	0.0:1.0:0.0:0.0	.	167;186;186;213	Q2TU37;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;TBCD7_HUMAN	R	154;213;213;186;167;186;186;213;186;186	ENSP00000348813:G213R;ENSP00000368602:G213R;ENSP00000368609:G186R;ENSP00000343100:G167R;ENSP00000414292:G186R;ENSP00000404680:G186R;ENSP00000394425:G213R;ENSP00000417005:G186R;ENSP00000412102:G186R	ENSP00000334212:G154R	G	-	1	0	TBC1D7	13415839	1.000000	0.71417	0.950000	0.38849	0.953000	0.61014	7.324000	0.79115	2.941000	0.99782	0.655000	0.94253	GGA		0.483	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		40	56	0	0	0	1	0	40	56					T	13307860	C	T	13307860	3	4	249	1	0	0	0	0	1	0	0	0	15621	632	22	2	256	2	TBC1D7	6	13307860	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		13307860	157807207	5	4398											
C6orf47	57827	broad.mit.edu	37	6	31627090	31627090	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:31627090C>A	ENST00000375911.1	-	1	1459	c.635G>T	c.(634-636)cGt>cTt	p.R212L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	212						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CAGCGGTCCACGCAGGCCCAG	0.637																																						uc003nvm.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(634-636)cGt>cTt		Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.							66	54	58					6																	31627090		1510	2709	4219	SO:0001583	missense	57827							g.chr6:31627090C>A	AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.635G>T	6.37:g.31627090C>A	ENSP00000365076:p.Arg212Leu		Somatic					p.R212L	NM_021184	NP_067007	WXS	Illumina GAIIx	Phase_I	O95873	CF047_HUMAN			0	1460	-			212					B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	c.635G>T	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285343	0.80803	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.48201	0.82	5.62	5.62	0.85841	.	0.216119	0.28921	N	0.013718	T	0.47948	0.1473	M	0.62723	1.935	0.32710	N	0.511662	D	0.58970	0.984	P	0.52386	0.697	T	0.55749	-0.8092	10	0.72032	D	0.01	-1.5746	15.1593	0.72771	0.0:1.0:0.0:0.0	.	212	O95873	CF047_HUMAN	L	212	ENSP00000365076:R212L	ENSP00000365076:R212L	R	-	2	0	C6orf47	31735069	0.503000	0.26115	0.962000	0.40283	0.912000	0.54170	2.428000	0.44749	2.653000	0.90120	0.655000	0.94253	CGT		0.637	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184		45	34	0	0	0	1	0	45	34					A	31627090	C	A	31627090	3	1	249	1	0	0	0	0	1	0	0	0	2364	536	19	4	253	4	C6orf47	6	31627090	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	18319230	31627090	139487977	6	4399											
SYNCRIP	10492	broad.mit.edu	37	6	86324743	86324743	+	Missense_Mutation	SNP	C	C	T	rs200994802		TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr6:86324743C>T	ENST00000369622.3	-	11	2103	c.1603G>A	c.(1603-1605)Gtt>Att	p.V535I	RP11-321N4.5_ENST00000503906.1_Silent_p.A70A|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.V535I	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	535	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCACCTCGAACGCCTCTTGCT	0.627													C|||	1	0.000199681	0	0	5008	,	,		16495	0		0.001	False		,,,				2504	0					uc003pla.2																			0		p.G534S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1603-1605)Gtt>Att		Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.							131	139	136					6																	86324743		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324743C>T	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1603G>A	6.37:g.86324743C>T	ENSP00000358635:p.Val535Ile		Somatic				SYNCRIP_uc003pku.3_Missense_Mutation_p.V535I|SYNCRIP_uc003pkv.3_Missense_Mutation_p.V535I|SYNCRIP_uc003pkw.3_Missense_Mutation_p.V500I|SYNCRIP_uc003pkx.3_Missense_Mutation_p.V383I|SYNCRIP_uc003pky.3_Missense_Mutation_p.V437I|SYNCRIP_uc003pkz.2_Missense_Mutation_p.V500I	p.V535I	NM_006372	NP_006363	WXS	Illumina GAIIx	Phase_I	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	10	2144	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	535			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1603G>A	CCDS5005.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.934	1.215629	0.22373	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.26957	1.7;1.7	5.39	5.39	0.77823	.	0.407398	0.26804	N	0.022402	T	0.07324	0.0185	L	0.27053	0.805	0.40026	D	0.975474	B;B;B;B;B;B;B	0.30482	0.071;0.117;0.071;0.117;0.281;0.117;0.071	B;B;B;B;B;B;B	0.22601	0.011;0.025;0.011;0.04;0.033;0.025;0.011	T	0.05937	-1.0855	10	0.02654	T	1	.	19.1481	0.93476	0.0:1.0:0.0:0.0	.	535;500;437;383;500;535;535	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	I	535	ENSP00000347380:V535I;ENSP00000358635:V535I	ENSP00000347380:V535I	V	-	1	0	SYNCRIP	86381462	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.656000	0.54467	2.521000	0.84997	0.563000	0.77884	GTT		0.627	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		39	177	0	0	0	1	0	39	177					T	86324743	C	T	86324743	3	4	249	1	0	0	0	0	1	0	0	0	15441	536	19	1	318	1	SYNCRIP	6	86324743	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	54697653	86324743	84790324	7	4400											
MOBKL2B	79817	broad.mit.edu	37	9	27359236	27359236	+	Splice_Site	SNP	T	T	C			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:27359236T>C	ENST00000262244.5	-	3	843		c.e3-2		MOB3B_ENST00000603061.1_Splice_Site	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B								metal ion binding (GO:0046872)										AGGGAACACCTAGAGAAGAAA	0.453																																						uc003zqn.3																			0											c.e3-1		Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.							84	92	89					9																	27359236		2203	4300	6503	SO:0001630	splice_region_variant	79817						metal ion binding|protein binding	g.chr9:27359236T>C	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"MOB kinase activators"	23825	protein-coding gene	gene with protein product	"monopolar spindle 1 binding, MOB1, domain containing"		"MOB1, Mps One Binder kinase activator-like 2B (yeast)", "chromosome 9 open reading frame 35"	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.419-2A>G	9.37:g.27359236T>C			Somatic					p.G140_splice	NM_024761	NP_079037	WXS	Illumina GAIIx	Phase_I	Q86TA1	MOL2B_HUMAN			3	915	-			140					Q8NEB4|Q9H8V4	Splice_Site	SNP	ENST00000262244.5	37	c.419_splice	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117488	0.56505	.	.	ENSG00000120162	ENST00000262244	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4786	0.61322	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MOBKL2B	27349236	1.000000	0.71417	0.996000	0.52242	0.594000	0.36715	8.036000	0.88901	1.877000	0.54381	0.254000	0.18369	.		0.453	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761	Intron	59	71	0	0	0	1	0	59	71					C	27359236	T	C	27359236	5	2	249	1	0	0	0	0	0	0	1	0	9685	1536	53	3	241	3	MOBKL2B	9	27359236	Splice_Site	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		27359236	113854195	8	4401											
LAMC3	10319	broad.mit.edu	37	9	133917103	133917103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr9:133917103G>T	ENST00000361069.4	+	7	1496	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	455	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAGAATGTGGAAGGCAACCT	0.582																																						uc004caa.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1363-1365)Gaa>Taa		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.							49	43	45					9																	133917103		2203	4300	6503	SO:0001587	stop_gained	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133917103G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1363G>T	9.37:g.133917103G>T	ENSP00000354360:p.Glu455*		Somatic					p.E455*	NM_006059	NP_006050	WXS	Illumina GAIIx	Phase_I	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	6	1461	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	455			Laminin EGF-like 4.		B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP	ENST00000361069.4	37	c.1363G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463671	0.98822	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8071	0.85708	0.0:0.0:1.0:0.0	.	.	.	.	X	455	.	ENSP00000325873:E455X	E	+	1	0	LAMC3	132906924	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.452000	0.97615	2.311000	0.77944	0.462000	0.41574	GAA		0.582	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		13	43	0	0	0	1	0	13	43					T	133917103	G	T	133917103	4	4	249	1	0	0	0	0	0	1	0	0	8616	1175	41	4	1389	4	LAMC3	9	133917103	Nonsense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	106557867	133917103	7296328	9	4402											
CDHR1	92211	broad.mit.edu	37	10	85972879	85972879	+	Silent	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr10:85972879C>T	ENST00000372117.3	+	16	1918	c.1815C>T	c.(1813-1815)aaC>aaT	p.N605N	CDHR1_ENST00000332904.3_Silent_p.N605N|CDHR1_ENST00000440770.2_Silent_p.N309N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	605	Cadherin 6. {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						AACCCAACAACCTGGTGGACT	0.557																																						uc001kcv.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.(1813-1815)aaC>aaT		Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.							123	107	113					10																	85972879		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972879C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1815C>T	10.37:g.85972879C>T			Somatic				CDHR1_uc001kcw.3_Silent_p.N605N|CDHR1_uc009xst.3_Silent_p.N309N|CDHR1_uc001kcx.3_5'UTR	p.N605N	NM_033100	NP_149091	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			15	1920	+			605			Cadherin 6.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1815C>T	CCDS7372.1																																																																																				0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		60	59	0	0	0	1	0	60	59					T	85972879	C	T	85972879	2	4	249	1	0	0	0	0	0	0	0	1	3118	506	18	2		2	CDHR1	10	85972879	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		85972879	49561868	10	4403											
KCNA4	3739	broad.mit.edu	37	11	30033056	30033056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:30033056G>T	ENST00000328224.6	-	2	2403	c.1170C>A	c.(1168-1170)tgC>tgA	p.C390*	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	390					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACAAGCAAAGCAGCGAACCA	0.448																																						uc001msk.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1168-1170)tgC>tgA		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.							81	78	79					11																	30033056		2050	4228	6278	SO:0001587	stop_gained	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033056G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1170C>A	11.37:g.30033056G>T	ENSP00000328511:p.Cys390*		Somatic				KCNA4_uc021qfi.1_Nonsense_Mutation_p.C390*	p.C390*	NM_002233	NP_002224	WXS	Illumina GAIIx	Phase_I	P22459	KCNA4_HUMAN			1	2411	-			390						Nonsense_Mutation	SNP	ENST00000328224.6	37	c.1170C>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	46	12.715507	0.99690	.	.	ENSG00000182255	ENST00000328224	.	.	.	5.3	4.39	0.52855	.	0.113958	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.2599	0.43421	0.1514:0.0:0.8486:0.0	.	.	.	.	X	390	.	ENSP00000328511:C390X	C	-	3	2	KCNA4	29989632	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.029000	0.49712	1.237000	0.43756	0.563000	0.77884	TGC		0.448	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		47	73	0	0	0	1	0	47	73					T	30033056	G	T	30033056	4	4	249	1	0	0	0	0	0	1	0	0	8005	963	34	4	795	4	KCNA4	11	30033056	Nonsense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08		30033056	104973460	11	4404											
FAT3	120114	broad.mit.edu	37	11	92577600	92577600	+	Silent	SNP	C	C	T	rs576218915	byFrequency	TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:92577600C>T	ENST00000298047.6	+	18	11084	c.11067C>T	c.(11065-11067)agC>agT	p.S3689S	FAT3_ENST00000533797.1_Silent_p.S24S|FAT3_ENST00000525166.1_Silent_p.S3539S|FAT3_ENST00000409404.2_Silent_p.S3689S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3689					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)				GCATCATCAGCATCCAGCCCG	0.602										TCGA Ovarian(4;0.039)			C|||	2	0.000399361	0	0.0029	5008	,	,		22262	0		0	False		,,,				2504	0					uc001pdj.4																			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.(11065-11067)agC>agT		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							40	42	41					11																	92577600		2173	4272	6445	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577600C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11067C>T	11.37:g.92577600C>T		TCGA Ovarian(4;0.039)	Somatic				FAT3_uc001pdi.4_Silent_p.S129S	p.S3689S	NM_001008781	NP_001008781	WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			17	11084	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3689					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11067C>T																																																																																					0.602	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	24	0	0	0	1	0	16	24					T	92577600	C	T	92577600	2	4	249	1	0	0	0	0	0	0	0	1	5691	709	25	2		2	FAT3	11	92577600	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	62544544	92577600	42428916	12	4405											
C11orf87	399947	broad.mit.edu	37	11	109294829	109294829	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr11:109294829C>T	ENST00000327419.6	+	2	873	c.470C>T	c.(469-471)cCg>cTg	p.P157L	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	157						integral component of membrane (GO:0016021)		p.P157R(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGGCCTCCCGTGCCAGGGT	0.672																																						uc010rwb.2																			1	Substitution - Missense(1)	p.P157R(2)	ovary(1)	breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(469-471)cCg>cTg		Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.							43	47	46					11																	109294829		2201	4296	6497	SO:0001583	missense	399947					integral to membrane		g.chr11:109294829C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.470C>T	11.37:g.109294829C>T	ENSP00000331581:p.Pro157Leu		Somatic				C11orf87_uc021qqf.1_Missense_Mutation_p.P157L	p.P157L	NM_207645	NP_997528	WXS	Illumina GAIIx	Phase_I	Q6NUJ2	CK087_HUMAN			1	873	+			157					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.470C>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	4.995	0.184756	0.09495	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.7	1.7	0.24286	.	0.117442	0.31601	U	0.007380	T	0.11495	0.0280	N	0.08118	0	0.29042	N	0.885033	B	0.02656	0.0	B	0.04013	0.001	T	0.24225	-1.0166	9	0.02654	T	1	-2.6201	1.527	0.02527	0.2459:0.4406:0.1849:0.1286	.	157	Q6NUJ2	CK087_HUMAN	L	157	.	ENSP00000331581:P157L	P	+	2	0	C11orf87	108800039	0.116000	0.22171	0.926000	0.36857	0.972000	0.66771	-0.299000	0.08254	0.469000	0.27268	0.655000	0.94253	CCG		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		48	55	0	0	0	1	0	48	55					T	109294829	C	T	109294829	3	4	249	1	0	0	0	0	1	0	0	0	1669	652	23	1	472	1	C11orf87	11	109294829	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	16717229	109294829	25711687	13	4406											
PSMA6	5687	broad.mit.edu	37	14	35761712	35761712	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr14:35761712C>A	ENST00000261479.4	+	1	150	c.30C>A	c.(28-30)gaC>gaA	p.D10E	PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|AL121594.1_ENST00000578587.1_RNA|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.D10E|PSMA6_ENST00000556506.1_Missense_Mutation_p.D10E	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CCGGTTTTGACCGCCACATTA	0.562																																						uc001wtd.3																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(28-30)gaC>gaA		Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.							110	105	107					14																	35761712		2203	4300	6503	SO:0001583	missense	5687				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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity	g.chr14:35761712C>A	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.30C>A	14.37:g.35761712C>A	ENSP00000261479:p.Asp10Glu		Somatic				KIAA0391_uc001wta.3_Intron|PSMA6_uc010tpt.2_5'UTR|PSMA6_uc010tpu.2_5'UTR	p.D10E	NM_002791	NP_002782	WXS	Illumina GAIIx	Phase_I	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	0	139	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		10					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.30C>A	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034738	0.93575	.	.	ENSG00000100902	ENST00000261479;ENST00000553809;ENST00000556506	T;T;T	0.58797	0.31;0.31;0.31	5.96	4.9	0.64082	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.82089	0.4961	H	0.95917	3.74	0.80722	D	1	D	0.55172	0.97	D	0.66716	0.946	D	0.86500	0.1803	10	0.66056	D	0.02	-0.2196	14.0078	0.64475	0.0:0.917:0.0:0.083	.	10	P60900	PSA6_HUMAN	E	10	ENSP00000261479:D10E;ENSP00000452603:D10E;ENSP00000450528:D10E	ENSP00000261479:D10E	D	+	3	2	PSMA6	34831463	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.555000	0.23422	2.826000	0.97356	0.655000	0.94253	GAC		0.562	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			9	115	0	0	0	1	0	9	115					A	35761712	C	A	35761712	3	1	249	1	0	0	0	0	1	0	0	0	12671	506	18	4	32	4	PSMA6	14	35761712	Missense_Mutation	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08		35761712	71587828	14	4407											
GRAMD2	196996	broad.mit.edu	37	15	72457708	72457708	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr15:72457708T>G	ENST00000309731.7	-	8	600	c.587A>C	c.(586-588)gAa>gCa	p.E196A	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	196						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AGACTCAGGTTCCCCTGAAAA	0.552																																						uc002atq.3																			0		p.G195V(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(586-588)gAa>gCa		Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.							110	111	111					15																	72457708		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72457708T>G	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.587A>C	15.37:g.72457708T>G	ENSP00000311657:p.Glu196Ala		Somatic				GRAMD2_uc010bis.2_Missense_Mutation_p.E196A|GRAMD2_uc010ukh.2_5'Flank	p.E196A	NM_001012642	NP_001012660	WXS	Illumina GAIIx	Phase_I	Q8IUY3	GRAM2_HUMAN			7	611	-			196					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.587A>C	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.964070	0.34659	.	.	ENSG00000175318	ENST00000309731	T	0.35236	1.32	5.4	4.26	0.50523	.	1.532230	0.04477	N	0.377127	T	0.54303	0.1850	L	0.61218	1.895	0.33944	D	0.643576	D	0.71674	0.998	D	0.64776	0.929	T	0.47394	-0.9121	10	0.08179	T	0.78	.	10.9284	0.47203	0.0:0.0:0.1574:0.8426	.	196	Q8IUY3	GRAM2_HUMAN	A	196	ENSP00000311657:E196A	ENSP00000311657:E196A	E	-	2	0	GRAMD2	70244762	1.000000	0.71417	0.038000	0.18304	0.008000	0.06430	3.987000	0.56944	0.864000	0.35578	0.533000	0.62120	GAA		0.552	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		7	118	0	0	0	1	0	7	118					G	72457708	T	G	72457708	3	3	249	1	0	0	0	0	1	0	0	0	6750	1783	62	5	497	5	GRAMD2	15	72457708	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		72457708	30073684	15	4408											
ADCY9	115	broad.mit.edu	37	16	4164144	4164144	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:4164144T>G	ENST00000294016.3	-	2	1838	c.1300A>C	c.(1300-1302)Aag>Cag	p.K434Q		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	434	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						TTCTCACACTTGGTCTCCTCA	0.612																																						uc002cvx.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.(1300-1302)Aag>Cag		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							76	80	79					16																	4164144		2197	4300	6497	SO:0001583	missense	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	ATP binding|adenylate cyclase activity|metal ion binding	g.chr16:4164144T>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1300A>C	16.37:g.4164144T>G	ENSP00000294016:p.Lys434Gln		Somatic					p.K434Q	NM_001116	NP_001107	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			1	1839	-			434			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1300A>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691431	0.30052	.	.	ENSG00000162104	ENST00000294016	D	0.84589	-1.87	5.28	5.28	0.74379	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.197704	0.45126	D	0.000388	T	0.74928	0.3781	N	0.16016	0.355	0.41312	D	0.987112	B	0.17038	0.02	B	0.17433	0.018	T	0.70396	-0.4883	10	0.33940	T	0.23	.	15.2396	0.73458	0.0:0.0:0.0:1.0	.	434	O60503	ADCY9_HUMAN	Q	434	ENSP00000294016:K434Q	ENSP00000294016:K434Q	K	-	1	0	ADCY9	4104145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.207000	0.51106	2.007000	0.58848	0.454000	0.30748	AAG		0.612	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			6	136	0	0	0	1	0	6	136					G	4164144	T	G	4164144	3	3	249	1	0	0	0	0	1	0	0	0	301	1821	63	5	2801	5	ADCY9	16	4164144	Missense_Mutation	SNP	T	TCGA-EM-A2CN-01A-11D-A19J-08		4164144	86190609	16	4409											
GAS8	2622	broad.mit.edu	37	16	90103675	90103675	+	Silent	SNP	C	C	T			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr16:90103675C>T	ENST00000268699.4	+	7	914	c.792C>T	c.(790-792)caC>caT	p.H264H	GAS8_ENST00000536122.1_Silent_p.H239H|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	264					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGAGGACCACCTGGAGAGGG	0.627																																						uc002fqi.1																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(790-792)caC>caT		Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.							65	63	63					16																	90103675		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90103675C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"growth arrest-specific 11"	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.792C>T	16.37:g.90103675C>T			Somatic				GAS8_uc010vps.1_Silent_p.H239H|GAS8_uc002fqh.2_Silent_p.H181H|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Silent_p.H235H|GAS8_uc010cjc.1_Silent_p.H181H|GAS8_uc010vpw.1_Silent_p.H181H|GAS8_uc002fqj.1_Silent_p.H72H	p.H264H	NM_001481	NP_001472	WXS	Illumina GAIIx	Phase_I	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	6	914	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	264					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.792C>T	CCDS10992.1																																																																																				0.627	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			4	21	0	0	0	1	0	4	21					T	90103675	C	T	90103675	2	4	249	1	0	0	0	0	0	0	0	1	6251	506	18	2		2	GAS8	16	90103675	Silent	SNP	C	TCGA-EM-A2CN-01A-11D-A19J-08	85939531	90103675	251078	17	4410											
ARVCF	421	broad.mit.edu	37	22	19969230	19969230	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:19969230G>A	ENST00000263207.3	-	5	691	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ARVCF_ENST00000406259.1_Missense_Mutation_p.R134W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R71W|ARVCF_ENST00000406522.1_Missense_Mutation_p.R71W|ARVCF_ENST00000401994.1_Missense_Mutation_p.R71W|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	134					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTACTGTCCGAGTGGTCACC	0.622																																						uc002zqz.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(400-402)Cgg>Tgg		Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.							34	41	38					22																	19969230		2187	4258	6445	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969230G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.400C>T	22.37:g.19969230G>A	ENSP00000263207:p.Arg134Trp		Somatic				ARVCF_uc002zqy.3_5'Flank	p.R134W	NM_001670	NP_001661	WXS	Illumina GAIIx	Phase_I	O00192	ARVC_HUMAN			4	670	-	Colorectal(54;0.0993)		134					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.400C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609474	0.66558	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.43	-0.632	0.11523	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.66939	2.045	0.47778	D	0.999512	D	0.65815	0.995	P	0.49387	0.609	T	0.47249	-0.9132	9	.	.	.	-5.1212	15.2039	0.73162	0.0:0.0:0.1774:0.8226	.	134	O00192	ARVC_HUMAN	W	134;71;71;71;134	ENSP00000263207:R134W;ENSP00000342042:R71W;ENSP00000384341:R71W;ENSP00000384732:R71W;ENSP00000385444:R134W	.	R	-	1	2	ARVCF	18349230	0.016000	0.18221	0.354000	0.25760	0.905000	0.53344	0.185000	0.16958	0.125000	0.18397	0.551000	0.68910	CGG		0.622	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		38	58	0	0	0	1	0	38	58					A	19969230	G	A	19969230	3	1	249	1	0	0	0	0	1	0	0	0	1003	1057	37	1	2548	1	ARVCF	22	19969230	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08		19969230	31335336	18	4411											
SF3A1	10291	broad.mit.edu	37	22	30734812	30734812	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CN-01A-11D-A19J-08	TCGA-EM-A2CN-10B-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c02d399-07af-4573-a568-bc1b256bc8f8	06dfc16a-ca37-46ca-8abb-20c1295e8f3a	g.chr22:30734812G>A	ENST00000215793.8	-	11	1863	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	SF3A1_ENST00000439242.1_Missense_Mutation_p.A505V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	570					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)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GATGGGTGGAGCCGAGCTGGG	0.542																																						uc003ahl.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1708-1710)gCt>gTt		Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.							205	211	209					22																	30734812		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding	g.chr22:30734812G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1709C>T	22.37:g.30734812G>A	ENSP00000215793:p.Ala570Val		Somatic				SF3A1_uc021wnt.1_Missense_Mutation_p.A505V	p.A570V	NM_005877	NP_005868	WXS	Illumina GAIIx	Phase_I	Q15459	SF3A1_HUMAN			10	1841	-			570					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1709C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499118	0.44455	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.31510	1.49;1.5	5.67	5.67	0.87782	.	0.157678	0.56097	D	0.000025	T	0.29976	0.0750	L	0.46157	1.445	0.58432	D	0.999994	B	0.30482	0.281	B	0.24974	0.057	T	0.03555	-1.1025	10	0.23891	T	0.37	-18.4087	19.7667	0.96346	0.0:0.0:1.0:0.0	.	570	Q15459	SF3A1_HUMAN	V	505;570;467;221	ENSP00000390336:A505V;ENSP00000215793:A570V	ENSP00000215793:A570V	A	-	2	0	SF3A1	29064812	0.998000	0.40836	0.891000	0.34965	0.970000	0.65996	3.108000	0.50337	2.681000	0.91329	0.655000	0.94253	GCT		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		95	102	0	0	0	1	0	95	102					A	30734812	G	A	30734812	3	1	249	1	0	0	0	0	1	0	0	0	14146	971	34	2	696	2	SF3A1	22	30734812	Missense_Mutation	SNP	G	TCGA-EM-A2CN-01A-11D-A19J-08	10765582	30734812	20569754	19	4412											
RIMS3	9783	broad.mit.edu	37	1	41098767	41098767	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:41098767C>T	ENST00000372684.3	-	5	915	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	RIMS3_ENST00000372683.1_Missense_Mutation_p.R149Q	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	149					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CAGTGTCTGTCGCCCCACAAT	0.592																																						uc001cfu.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(445-447)cGa>cAa		Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.							157	141	146					1																	41098767		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41098767C>T	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.446G>A	1.37:g.41098767C>T	ENSP00000361769:p.Arg149Gln		Somatic				RIMS3_uc001cfv.1_Missense_Mutation_p.R149Q	p.R149Q	NM_014747	NP_055562	WXS	Illumina GAIIx	Phase_I	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		4	911	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	149					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.446G>A	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440590	0.96168	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.42900	0.96;0.96	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.72010	-0.4419	10	0.59425	D	0.04	-5.2759	16.0031	0.80310	0.0:1.0:0.0:0.0	.	149	Q9UJD0	RIMS3_HUMAN	Q	149	ENSP00000361769:R149Q;ENSP00000361768:R149Q	ENSP00000361768:R149Q	R	-	2	0	RIMS3	40871354	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.770000	0.85390	2.379000	0.81126	0.305000	0.20034	CGA		0.592	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		76	69	0	0	0	1	0	76	69					T	41098767	C	T	41098767	3	4	250	1	0	0	0	0	1	0	0	0	13369	884	31	1	496	1	RIMS3	1	41098767	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		41098767	208151854	1	4413											
VCAM1	7412	broad.mit.edu	37	1	101188796	101188796	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:101188796G>T	ENST00000294728.2	+	3	662	c.561G>T	c.(559-561)gaG>gaT	p.E187D	VCAM1_ENST00000370119.4_Missense_Mutation_p.E125D|VCAM1_ENST00000370115.1_Missense_Mutation_p.E187D|VCAM1_ENST00000347652.2_Missense_Mutation_p.E187D	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	187	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGTCATTGAGGATATTGGAA	0.418																																						uc001dti.3																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(559-561)gaG>gaT		Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	Carvedilol(DB01136)						123	116	119					1																	101188796		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188796G>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.561G>T	1.37:g.101188796G>T	ENSP00000294728:p.Glu187Asp		Somatic				VCAM1_uc010ouj.2_Missense_Mutation_p.E125D|VCAM1_uc001dtj.3_Missense_Mutation_p.E187D	p.E187D	NM_001078	NP_001069	WXS	Illumina GAIIx	Phase_I	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	782	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	187			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.561G>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520615	0.27211	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.42	-4.04	0.04010	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.706955	0.13918	N	0.353776	T	0.29061	0.0722	M	0.81802	2.56	0.29062	N	0.88386	P;P;D	0.56746	0.942;0.955;0.977	P;P;D	0.65773	0.766;0.904;0.938	T	0.23691	-1.0181	10	0.21014	T	0.42	-16.8517	8.0585	0.30619	0.5435:0.0:0.3501:0.1064	.	125;187;187	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	D	125;187;187;187	ENSP00000359137:E125D;ENSP00000304611:E187D;ENSP00000294728:E187D;ENSP00000359133:E187D	ENSP00000294728:E187D	E	+	3	2	VCAM1	100961384	0.921000	0.31238	0.095000	0.20976	0.085000	0.17905	-0.169000	0.09911	-0.671000	0.05274	-1.937000	0.00501	GAG		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		19	13	0	0	0	1	0	19	13					T	101188796	G	T	101188796	3	4	250	1	0	0	0	0	1	0	0	0	17134	991	35	4	571	4	VCAM1	1	101188796	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08	60090029	101188796	148061825	2	4414											
CEPT1	10390	broad.mit.edu	37	1	111690383	111690383	+	Missense_Mutation	SNP	C	C	T	rs556306202		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:111690383C>T	ENST00000545121.1	+	2	255	c.47C>T	c.(46-48)cCg>cTg	p.P16L	CEPT1_ENST00000357172.4_Missense_Mutation_p.P16L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	16					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GATTCTCACCCGGAGTCCCCA	0.393																																						uc001eah.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(46-48)cCg>cTg		Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	Choline(DB00122)						66	71	69					1																	111690383		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111690383C>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.47C>T	1.37:g.111690383C>T	ENSP00000441980:p.Pro16Leu		Somatic				CEPT1_uc001eag.3_Missense_Mutation_p.P16L|CEPT1_uc001eai.1_Missense_Mutation_p.P16L|CEPT1_uc001eaj.1_Missense_Mutation_p.P16L	p.P16L	NM_001007794	NP_006081	WXS	Illumina GAIIx	Phase_I	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	1	255	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	16					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.47C>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068359	0.20067	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.40225	1.04;1.04	4.68	1.69	0.24217	.	0.702655	0.14140	N	0.338800	T	0.09202	0.0227	N	0.12182	0.205	0.37694	D	0.92395	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09271	-1.0682	10	0.40728	T	0.16	-33.8871	5.5817	0.17252	0.1587:0.6649:0.0:0.1764	.	16;16	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	L	16	ENSP00000441980:P16L;ENSP00000349696:P16L	ENSP00000349696:P16L	P	+	2	0	CEPT1	111491906	0.927000	0.31430	0.996000	0.52242	0.983000	0.72400	0.354000	0.20146	0.267000	0.21916	-0.150000	0.13652	CCG		0.393	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		5	45	0	0	0	1	0	5	45					T	111690383	C	T	111690383	3	4	250	1	0	0	0	0	1	0	0	0	3264	652	23	1	49	1	CEPT1	1	111690383	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08	10501587	111690383	137560238	3	4415											
TSNAX	7257	broad.mit.edu	37	1	231696959	231696959	+	Silent	SNP	A	A	G			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:231696959A>G	ENST00000366639.4	+	5	611	c.453A>G	c.(451-453)caA>caG	p.Q151Q	TSNAX-DISC1_ENST00000602962.1_Silent_p.Q151Q	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	151	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TTAATAAACAATTGATATTTA	0.289																																						uc001huw.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(451-453)caA>caG		Homo sapiens translin-associated factor X (TSNAX), mRNA.							48	55	52					1																	231696959		2199	4291	6490	SO:0001819	synonymous_variant	7257				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	g.chr1:231696959A>G	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.453A>G	1.37:g.231696959A>G			Somatic				DISC1_uc010pwe.2_5'UTR|DISC1_uc010pwf.2_Intron|DISC1_uc010pwj.1_5'UTR|DISC1_uc010pwk.1_5'UTR|DISC1_uc010pwg.1_Intron|DISC1_uc010pwh.1_5'UTR|DISC1_uc010pwi.1_5'UTR|DISC1_uc010pwl.2_Intron	p.Q151Q	NM_005999	NP_005990	WXS	Illumina GAIIx	Phase_I	Q99598	TSNAX_HUMAN			4	611	+		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)	151			Interaction with C1D.		B1APC6	Silent	SNP	ENST00000366639.4	37	c.453A>G	CCDS1596.1																																																																																				0.289	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		13	30	0	0	0	1	0	13	30					G	231696959	A	G	231696959	2	3	250	1	0	0	0	0	0	0	0	1	16628	98	4	3		3	TSNAX	1	231696959	Silent	SNP	A	TCGA-EM-A2CO-01A-11D-A19J-08	120006576	231696959	17553662	4	4416											
NEB	4703	broad.mit.edu	37	2	152390825	152390825	+	Silent	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr2:152390825G>A	ENST00000172853.10	-	115	16365	c.16218C>T	c.(16216-16218)taC>taT	p.Y5406Y	NEB_ENST00000427231.2_Silent_p.Y7107Y|NEB_ENST00000397345.3_Intron|NEB_ENST00000604864.1_Silent_p.Y7107Y|NEB_ENST00000603639.1_Intron|NEB_ENST00000409198.1_Silent_p.Y5406Y			P20929	NEBU_HUMAN	nebulin	5406					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)		AATCAGCTCTGTATTTTTTCT	0.443																																						uc002txu.3																			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.(21319-21321)taC>taT		Homo sapiens nebulin (NEB), transcript variant 1, mRNA.							202	195	197					2																	152390825		1896	4132	6028	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	g.chr2:152390825G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16218C>T	2.37:g.152390825G>A			Somatic				NEB_uc002txr.3_Silent_p.Y1872Y|NEB_uc021vrb.1_Silent_p.Y5406Y|NEB_uc021vrc.1_Intron|NEB_uc010fnx.3_Silent_p.Y5394Y|NEB_uc021vrd.1_Silent_p.Y5406Y|NEB_uc002txt.4_5'Flank	p.Y7107Y	NM_001164507	NP_001157979	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	142	21524	-			5406					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.21321C>T																																																																																					0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	72	0	0	0	1	0	5	72					A	152390825	G	A	152390825	2	1	250	1	0	0	0	0	0	0	0	1	10302	1372	48	2		2	NEB	2	152390825	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		152390825	90808548	5	4417											
RTP1	132112	broad.mit.edu	37	3	186917353	186917353	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr3:186917353G>T	ENST00000312295.4	+	2	317	c.287G>T	c.(286-288)tGg>tTg	p.W96L	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	96					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CACTGCTCCTGGTGCTGGCAC	0.652																																						uc003frg.3																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(286-288)tGg>tTg		Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.							75	64	68					3																	186917353		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917353G>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.287G>T	3.37:g.186917353G>T	ENSP00000311712:p.Trp96Leu		Somatic					p.W96L	NM_153708	NP_714919	WXS	Illumina GAIIx	Phase_I	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	317	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		96						Missense_Mutation	SNP	ENST00000312295.4	37	c.287G>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010435	0.54361	.	.	ENSG00000175077	ENST00000312295	T	0.20332	2.08	5.7	5.7	0.88788	.	0.581138	0.18938	N	0.127035	T	0.14399	0.0348	N	0.15975	0.35	0.32887	D	0.511321	B	0.26147	0.143	B	0.30316	0.114	T	0.14615	-1.0466	10	0.15066	T	0.55	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	96	P59025	RTP1_HUMAN	L	96	ENSP00000311712:W96L	ENSP00000311712:W96L	W	+	2	0	RTP1	188400047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.193000	0.42658	2.711000	0.92665	0.561000	0.74099	TGG		0.652	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		53	50	0	0	0	1	0	53	50					T	186917353	G	T	186917353	3	4	250	1	0	0	0	0	1	0	0	0	13733	1357	47	4	293	4	RTP1	3	186917353	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		186917353	11105077	6	4418											
HELLS	3070	broad.mit.edu	37	10	96361328	96361328	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr10:96361328A>G	ENST00000348459.5	+	22	2571	c.2466A>G	c.(2464-2466)atA>atG	p.I822M	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.I868M|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.I724M	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGATGGGGATATTCAAGATAT	0.303																																						uc009xuo.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(2602-2604)atA>atG		Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.							70	76	74					10																	96361328		2203	4297	6500	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96361328A>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2466A>G	10.37:g.96361328A>G	ENSP00000239027:p.Ile822Met		Somatic				HELLS_uc001kjs.3_Missense_Mutation_p.I806M|HELLS_uc001kjt.3_Missense_Mutation_p.I822M|HELLS_uc009xul.3_Missense_Mutation_p.I724M|HELLS_uc009xum.3_Missense_Mutation_p.I692M|HELLS_uc009xun.3_Missense_Mutation_p.I698M|HELLS_uc001kju.3_Missense_Mutation_p.I461M|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.I684M|HELLS_uc009xur.3_Non-coding_Transcript	p.I868M	NM_018063	NP_060533	WXS	Illumina GAIIx	Phase_I	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	22	2709	+		Colorectal(252;0.0429)	822						Missense_Mutation	SNP	ENST00000348459.5	37	c.2604A>G	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402439	0.42613	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.89939	-2.44;-2.07;-2.59;-1.72	5.85	3.49	0.39957	.	0.176741	0.47852	D	0.000207	T	0.79488	0.4454	N	0.03608	-0.345	0.80722	D	1	P;B;D;B;P	0.64830	0.807;0.057;0.994;0.067;0.901	B;B;P;B;B	0.53861	0.358;0.024;0.736;0.203;0.277	T	0.75952	-0.3136	10	0.41790	T	0.15	-12.3166	4.5068	0.11893	0.4997:0.1058:0.0:0.3945	.	806;793;692;724;822	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	M	822;724;868;259	ENSP00000239027:I822M;ENSP00000377609:I724M;ENSP00000360383:I868M;ENSP00000360378:I259M	ENSP00000239027:I822M	I	+	3	3	HELLS	96351318	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.346000	0.33964	0.455000	0.26910	0.460000	0.39030	ATA		0.303	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		9	50	0	0	0	1	0	9	50					G	96361328	A	G	96361328	3	3	250	1	0	0	0	0	1	0	0	0	7046	439	16	3	2552	3	HELLS	10	96361328	Missense_Mutation	SNP	A	TCGA-EM-A2CO-01A-11D-A19J-08		96361328	39173419	7	4419											
MUC5B	727897	broad.mit.edu	37	11	1267146	1267146	+	Silent	SNP	G	G	A	rs563936822	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	MUC5B_ENST00000447027.1_Silent_p.P3015P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642													G|||	4	0.000798722	0	0	5008	,	,		16823	0		0.003	False		,,,				2504	0.001					uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9034-9036)ccG>ccA		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							139	168	158					11																	1267146		2150	4233	6383	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267146G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9036G>A	11.37:g.1267146G>A			Somatic					p.P3012P	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	9095	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3012	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9036G>A	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		31	82	0	0	0	1	0	31	82					A	1267146	G	A	1267146	2	1	250	1	0	0	0	0	0	0	0	1	9979	1132	40	1		1	MUC5B	11	1267146	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		1267146	133739370	8	4420											
SLC25A45	283130	broad.mit.edu	37	11	65144072	65144072	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:65144072T>C	ENST00000527174.1	-	6	728	c.673A>G	c.(673-675)Atc>Gtc	p.I225V	SLC25A45_ENST00000360662.3_Missense_Mutation_p.I201V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.I201V|SLC25A45_ENST00000417511.2_Missense_Mutation_p.I183V|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000377152.2_Missense_Mutation_p.I121V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.I163V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.I183V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.I225V			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	225					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGACTTGATCATGTCTAAG	0.617																																						uc001odr.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(673-675)Atc>Gtc		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.							83	87	86					11																	65144072		2149	4252	6401	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144072T>C	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.673A>G	11.37:g.65144072T>C	ENSP00000435489:p.Ile225Val		Somatic				SLC25A45_uc009yqi.1_Missense_Mutation_p.I163V|SLC25A45_uc001odq.1_Missense_Mutation_p.I201V|SLC25A45_uc001ods.1_Missense_Mutation_p.I183V|SLC25A45_uc001odt.1_Missense_Mutation_p.I183V	p.I225V	NM_182556	NP_001070709	WXS	Illumina GAIIx	Phase_I	Q8N413	S2545_HUMAN			6	877	-			225					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.673A>G	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	T	6.287	0.421074	0.11928	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.74	-0.201	0.13212	Mitochondrial carrier domain (2);	.	.	.	.	T	0.43122	0.1233	N	0.04203	-0.255	0.34764	D	0.733075	B;B;B	0.19935	0.007;0.007;0.04	B;B;B	0.26969	0.012;0.045;0.075	T	0.47586	-0.9106	9	0.02654	T	1	-0.0064	4.9452	0.13985	0.0:0.2641:0.1529:0.583	.	163;201;225	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	V	225;201;225;201;121;183;183;163	ENSP00000435489:I225V;ENSP00000431769:I201V;ENSP00000381782:I225V;ENSP00000353879:I201V;ENSP00000366357:I121V;ENSP00000294187:I183V;ENSP00000407530:I183V;ENSP00000435547:I163V	ENSP00000294187:I183V	I	-	1	0	SLC25A45	64900648	0.323000	0.24643	1.000000	0.80357	0.909000	0.53808	-0.298000	0.08265	0.070000	0.16634	0.459000	0.35465	ATC		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		29	33	0	0	0	1	0	29	33					C	65144072	T	C	65144072	3	2	250	1	0	0	0	0	1	0	0	0	14510	1435	50	3	197	3	SLC25A45	11	65144072	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08	63876926	65144072	69862444	9	4421											
PIH1D2	120379	broad.mit.edu	37	11	111942472	111942472	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:111942472T>C	ENST00000280350.4	-	3	410	c.188A>G	c.(187-189)gAa>gGa	p.E63G	C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000528775.1_Missense_Mutation_p.E63G|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000532163.1_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.E63G|C11orf57_ENST00000530104.1_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	63										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AAGTATTTTTTCTTTTGGTTT	0.428																																						uc001pmp.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(187-189)gAa>gGa		Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.							85	88	87					11																	111942472		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111942472T>C	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.188A>G	11.37:g.111942472T>C	ENSP00000280350:p.Glu63Gly		Somatic				PIH1D2_uc009yyl.3_Missense_Mutation_p.E63G|PIH1D2_uc010rws.1_Missense_Mutation_p.E63G|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.4_5'Flank|C11orf57_uc001pmr.4_5'Flank|C11orf57_uc001pmt.4_5'Flank|C11orf57_uc001pmv.4_5'Flank|C11orf57_uc001pms.4_5'Flank	p.E63G	NM_138789	NP_620144	WXS	Illumina GAIIx	Phase_I	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	2	411	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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)	63					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.188A>G	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045342	0.55110	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T;T;T;T;T;T	0.50277	0.77;0.77;0.81;0.81;0.78;0.75	4.97	3.84	0.44239	.	0.475662	0.24838	N	0.035185	T	0.46580	0.1400	M	0.63428	1.95	0.40187	D	0.977362	P;P;B	0.50528	0.936;0.936;0.075	P;P;B	0.50860	0.516;0.652;0.055	T	0.49093	-0.8975	10	0.09590	T	0.72	-16.2345	6.1949	0.20544	0.0:0.1921:0.0:0.8079	.	63;63;63	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	G	63;63;63;63;63;28	ENSP00000434275:E63G;ENSP00000388209:E63G;ENSP00000431841:E63G;ENSP00000280350:E63G;ENSP00000431147:E63G;ENSP00000433297:E28G	ENSP00000280350:E63G	E	-	2	0	PIH1D2	111447682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.904000	0.39868	0.931000	0.37242	0.459000	0.35465	GAA		0.428	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		10	23	0	0	0	1	0	10	23					C	111942472	T	C	111942472	3	2	250	1	0	0	0	0	1	0	0	0	11907	1783	62	3	833	3	PIH1D2	11	111942472	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08	46798400	111942472	23064044	10	4422											
PCID2	55795	broad.mit.edu	37	13	113854783	113854783	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr13:113854783C>A	ENST00000337344.4	-	2	160	c.84G>T	c.(82-84)ttG>ttT	p.L28F	PCID2_ENST00000246505.5_Missense_Mutation_p.L28F|PCID2_ENST00000375479.2_Missense_Mutation_p.L28F|PCID2_ENST00000375457.2_Missense_Mutation_p.L26F|PCID2_ENST00000375477.1_Missense_Mutation_p.L28F|PCID2_ENST00000375459.1_Missense_Mutation_p.L26F	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	28					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TAAAAGACACCAACTCTGCAC	0.423																																						uc021rmt.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(82-84)ttG>ttT		Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.							127	127	127					13																	113854783		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854783C>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.84G>T	13.37:g.113854783C>A	ENSP00000337405:p.Leu28Phe		Somatic				PCID2_uc021rmq.1_Missense_Mutation_p.L28F|PCID2_uc021rmr.1_Missense_Mutation_p.L28F|PCID2_uc021rms.1_Missense_Mutation_p.L28F|PCID2_uc001vtg.2_Non-coding_Transcript	p.L28F	NM_018386	NP_060856	WXS	Illumina GAIIx	Phase_I	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		1	165	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	28					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.84G>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256411	0.39896	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	4.6	0.57074	.	0.156062	0.43747	D	0.000534	T	0.49779	0.1577	L	0.42581	1.335	0.51767	D	0.999937	B;B	0.26400	0.148;0.003	B;B	0.36335	0.222;0.01	T	0.35724	-0.9777	9	0.14656	T	0.56	-4.0257	9.5043	0.39037	0.0:0.7809:0.1443:0.0748	.	28;28	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	F	28;28;28;28;26;26;28;26;28	.	ENSP00000246505:L28F	L	-	3	2	PCID2	112902784	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.150000	0.31639	1.280000	0.44463	0.655000	0.94253	TTG		0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		5	63	0	0	0	1	0	5	63					A	113854783	C	A	113854783	3	1	250	1	0	0	0	0	1	0	0	0	11579	593	21	4	1167	4	PCID2	13	113854783	Missense_Mutation	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		113854783	1315095	11	4423											
AXIN1	8312	broad.mit.edu	37	16	354424	354424	+	Silent	SNP	C	C	T	rs201968411		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr16:354424C>T	ENST00000262320.3	-	5	1505	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P	AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Silent_p.P378P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	378	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGACCTCCTTCGGCACCCGGT	0.627																																						uc002cgp.2																			1	Unknown(1)	p.P378L(1)|p.?(1)	liver(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1132-1134)ccG>ccA		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							29	28	28					16																	354424		2202	4294	6496	SO:0001819	synonymous_variant	8312				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:354424C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1134G>A	16.37:g.354424C>T			Somatic				LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.P378P	p.P378P	NM_003502	NP_003493	WXS	Illumina GAIIx	Phase_I	O15169	AXIN1_HUMAN			4	1523	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	378			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.1134G>A	CCDS10405.1																																																																																				0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			3	37	0	0	0	1	0	3	37					T	354424	C	T	354424	2	4	250	1	0	0	0	0	0	0	0	1	1236	871	31	1		1	AXIN1	16	354424	Silent	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08		354424	90000329	12	4424											
AMAC1	146861	broad.mit.edu	37	17	33521307	33521307	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:33521307T>C	ENST00000297307.5	-	1	105	c.20A>G	c.(19-21)tAt>tGt	p.Y7C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	7						integral component of membrane (GO:0016021)											CTGGTTGAAATAGGGGTGACT	0.632																																						uc002hjd.2																			0											c.(19-21)tAt>tGt		Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.							84	80	81					17																	33521307		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33521307T>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.20A>G	17.37:g.33521307T>C	ENSP00000297307:p.Tyr7Cys		Somatic					p.Y7C	NM_152462	NP_689675	WXS	Illumina GAIIx	Phase_I	Q8N808	AMAC1_HUMAN			0	106	-			7					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.20A>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	8.088	0.773909	0.16051	.	.	ENSG00000164729	ENST00000297307	T	0.35605	1.3	.	.	.	.	0.181691	0.26780	N	0.022523	T	0.37705	0.1013	N	0.24115	0.695	0.20975	N	0.999819	D	0.76494	0.999	D	0.80764	0.994	T	0.14227	-1.0480	8	0.52906	T	0.07	-6.2298	.	.	.	.	7	Q8N808	S35G3_HUMAN	C	7	ENSP00000297307:Y7C	ENSP00000297307:Y7C	Y	-	2	0	SLC35G3	30545420	0.233000	0.23772	0.360000	0.25837	0.366000	0.29705	0.077000	0.14738	0.056000	0.16144	0.055000	0.15244	TAT		0.632	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		3	45	0	0	0	1	0	3	45					C	33521307	T	C	33521307	3	2	250	1	0	0	0	0	1	0	0	0	559	1406	49	3	1000	3	AMAC1	17	33521307	Missense_Mutation	SNP	T	TCGA-EM-A2CO-01A-11D-A19J-08		33521307	47673903	13	4425											
P4HB	5034	broad.mit.edu	37	17	79813410	79813410	+	Silent	SNP	C	C	A	rs375359477		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:79813410C>A	ENST00000331483.4	-	3	627	c.405G>T	c.(403-405)ccG>ccT	p.P135P	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Intron|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	135					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGGTGGCAGCCGGGCCCGTGC	0.592																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(403-405)ccG>ccT		Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.							45	49	47					17																	79813410		2203	4300	6503	SO:0001819	synonymous_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79813410C>A	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.405G>T	17.37:g.79813410C>A			Somatic				P4HB_uc002kbm.1_5'UTR	p.P135P	NM_000918	NP_000909	WXS	Illumina GAIIx	Phase_I	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		2	602	-	all_neural(118;0.0878)|Ovarian(332;0.12)		135					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.405G>T	CCDS11787.1																																																																																				0.592	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		3	50	0	0	0	1	0	3	50					A	79813410	C	A	79813410	2	1	250	1	0	0	0	0	0	0	0	1	11359	639	23	4		4	P4HB	17	79813410	Silent	SNP	C	TCGA-EM-A2CO-01A-11D-A19J-08	46292103	79813410	1381800	14	4426											
ZNF407	55628	broad.mit.edu	37	18	72775591	72775592	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr18:72775591_72775592insT	ENST00000299687.5	+	8	5914_5915	c.5914_5915insT	c.(5914-5916)attfs	p.I1972fs		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1972					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGCAGGAGATTTTAAACCTC	0.614																																						uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5914-5916)attfs		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775591_72775592insT	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5918dupT	18.37:g.72775595_72775595dupT	ENSP00000299687:p.Ile1972fs		Somatic					p.I1972fs	NM_017757	NP_060227	WXS	Illumina GAIIx	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	7	5967_5968	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1972					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Ins	INS	ENST00000299687.5	37	c.5914_5915insT	CCDS45885.1																																																																																				0.614	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	7						6	7	---	---	---	---	T	72775592	-	T	72775591	7	5	250	1	0	1	1	0	0	0	0	0	17884	333	12	0	6074	0	ZNF407	18	72775591	Frame_Shift_Ins	INS	-	TCGA-EM-A2CO-01A-11D-A19J-08		72775591	5301657	15	4427											
CCDC155	147872	broad.mit.edu	37	19	49920492	49920492	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr19:49920492G>A	ENST00000447857.3	+	19	1721	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	506						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAGGGCCTGGGGCCAGCTCTG	0.652																																						uc002pnm.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1516-1518)Ggc>Agc		Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.							23	27	26					19																	49920492		1920	4112	6032	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49920492G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1516G>A	19.37:g.49920492G>A	ENSP00000404220:p.Gly506Ser		Somatic				CCDC155_uc010emx.2_Missense_Mutation_p.G477S	p.G506S	NM_144688	NP_653289	WXS	Illumina GAIIx	Phase_I	Q8N6L0	CC155_HUMAN			18	1721	+			506					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.1516G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	g	10.57	1.386550	0.25031	.	.	ENSG00000161609	ENST00000447857	T	0.29397	1.57	3.89	1.03	0.20045	.	0.679950	0.12798	N	0.438267	T	0.19765	0.0475	L	0.36672	1.1	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.08055	0.003;0.003	T	0.21211	-1.0252	10	0.31617	T	0.26	-6.5932	4.5176	0.11943	0.1808:0.2054:0.6138:0.0	.	506;506	C9JGW3;Q8N6L0	.;CC155_HUMAN	S	506	ENSP00000404220:G506S	ENSP00000404220:G506S	G	+	1	0	CCDC155	54612304	0.110000	0.22057	0.071000	0.20095	0.795000	0.44927	0.055000	0.14229	0.160000	0.19432	0.450000	0.29827	GGC		0.652	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		7	15	0	0	0	1	0	7	15					A	49920492	G	A	49920492	3	1	250	1	0	0	0	0	1	0	0	0	2788	1232	43	2	1586	2	CCDC155	19	49920492	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		49920492	9208491	16	4428											
ANKRD5	63926	broad.mit.edu	37	20	10023795	10023795	+	Silent	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr20:10023795G>A	ENST00000378380.3	+	3	701	c.372G>A	c.(370-372)ccG>ccA	p.P124P	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.P124P|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	124							calcium ion binding (GO:0005509)										GCATTTTACCGACTAAGCGGC	0.378																																						uc002wno.3																			0				breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(370-372)ccG>ccA		Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.							140	133	135					20																	10023795		2203	4300	6503	SO:0001819	synonymous_variant	63926						calcium ion binding	g.chr20:10023795G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.372G>A	20.37:g.10023795G>A			Somatic				LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.P124P|ANKRD5_uc010gbz.3_5'UTR	p.P124P	NM_022096	NP_942093	WXS	Illumina GAIIx	Phase_I	Q9NU02	ANKR5_HUMAN			3	765	+			124					B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.372G>A	CCDS13108.1																																																																																				0.378	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		23	44	0	0	0	1	0	23	44					A	10023795	G	A	10023795	2	1	250	1	0	0	0	0	0	0	0	1	676	1045	37	1		1	ANKRD5	20	10023795	Silent	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		10023795	53001725	17	4429											
FAM83F	113828	broad.mit.edu	37	22	40417409	40417409	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr22:40417409G>A	ENST00000333407.6	+	4	989	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM83F_ENST00000473717.1_Missense_Mutation_p.D131N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	299										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGAGGAGGTGGACTTGTACCG	0.592																																						uc003ayk.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(895-897)Gac>Aac		Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.							109	112	111					22																	40417409		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417409G>A		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.895G>A	22.37:g.40417409G>A	ENSP00000330432:p.Asp299Asn		Somatic					p.D299N	NM_138435	NP_612444	WXS	Illumina GAIIx	Phase_I	Q8NEG4	FA83F_HUMAN			3	989	+			299					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.895G>A	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	4.159	0.027914	0.08054	.	.	ENSG00000133477	ENST00000333407	T	0.14144	2.53	4.79	1.22	0.21188	.	0.216541	0.47093	N	0.000260	T	0.03959	0.0111	N	0.01874	-0.695	0.26090	N	0.980963	B	0.12013	0.005	B	0.12156	0.007	T	0.44832	-0.9302	10	0.09084	T	0.74	-14.1409	8.8252	0.35050	0.7251:0.0:0.2749:0.0	.	299	Q8NEG4	FA83F_HUMAN	N	299	ENSP00000330432:D299N	ENSP00000330432:D299N	D	+	1	0	FAM83F	38747355	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	0.823000	0.27366	0.039000	0.15632	0.561000	0.74099	GAC		0.592	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		13	116	0	0	0	1	0	13	116					A	40417409	G	A	40417409	3	1	250	1	0	0	0	0	1	0	0	0	5638	1174	41	2	909	2	FAM83F	22	40417409	Missense_Mutation	SNP	G	TCGA-EM-A2CO-01A-11D-A19J-08		40417409	10887157	18	4430											
STK36	27148	broad.mit.edu	37	2	219561866	219561866	+	Silent	SNP	A	A	G			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr2:219561866A>G	ENST00000295709.3	+	23	2970	c.2691A>G	c.(2689-2691)gcA>gcG	p.A897A	STK36_ENST00000392105.3_Silent_p.A876A|STK36_ENST00000392106.2_Silent_p.A876A|STK36_ENST00000440309.1_Silent_p.A897A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGGCATCTGCACAGGAAGGGG	0.537																																						uc002viu.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(2689-2691)gcA>gcG		Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.							122	129	126					2																	219561866		2203	4300	6503	SO:0001819	synonymous_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219561866A>G	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2691A>G	2.37:g.219561866A>G			Somatic				STK36_uc002viv.3_Silent_p.A876A|STK36_uc002vix.3_5'UTR	p.A897A	NM_015690	NP_056505	WXS	Illumina GAIIx	Phase_I	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	22	2970	+		Renal(207;0.0915)	897						Silent	SNP	ENST00000295709.3	37	c.2691A>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	9.591	1.126267	0.20959	.	.	ENSG00000163482	ENST00000431040	.	.	.	5.12	-3.92	0.04155	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.20975	N	0.999812	.	.	.	.	.	.	T	0.36601	-0.9741	4	.	.	.	8.2973	8.025	0.30431	0.3516:0.4546:0.1938:0.0	.	.	.	.	R	90	.	.	H	+	2	0	STK36	219270110	0.000000	0.05858	0.165000	0.22776	0.955000	0.61496	-0.576000	0.05854	-0.455000	0.07054	0.533000	0.62120	CAC		0.537	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			5	235	0	0	0	1	0	5	235					G	219561866	A	G	219561866	2	3	251	1	0	0	0	0	0	0	0	1	15301	146	6	3		3	STK36	2	219561866	Silent	SNP	A	TCGA-EM-A2CP-01A-11D-A17V-08		219561866	23637507	1	4431											
PRUNE2	158471	broad.mit.edu	37	9	79322343	79322343	+	Missense_Mutation	SNP	C	C	T	rs368679517		TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr9:79322343C>T	ENST00000376718.3	-	8	4970	c.4847G>A	c.(4846-4848)cGc>cAc	p.R1616H	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R1257H	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1616					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						AGGAGTTTTGCGATCAAAGCT	0.353																																						uc010mpk.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4846-4848)cGc>cAc		Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.		C	HIS/ARG	1,3135		0,1,1567	65	59	61		4847	-5.6	0.0	9		61	0,7164		0,0,3582	no	missense	PRUNE2	NM_015225.2	29	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	benign	1616/3089	79322343	1,10299	1568	3582	5150	SO:0001583	missense	158471				G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322343C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4847G>A	9.37:g.79322343C>T	ENSP00000365908:p.Arg1616His		Somatic				PRUNE2_uc022bih.1_Missense_Mutation_p.R1438H	p.R1616H	NM_015225	NP_056040	WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			7	4971	-			1616					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4847G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.890648	0.00527	3.19E-4	0.0	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.39406	1.08;1.08	5.91	-5.58	0.02512	.	1.613590	0.03194	N	0.173709	T	0.08626	0.0214	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29274	-1.0017	10	0.06494	T	0.89	4.1937	3.9404	0.09325	0.1079:0.1256:0.4463:0.3201	.	1616	Q8WUY3	PRUN2_HUMAN	H	1616;1257;1615	ENSP00000365908:R1616H;ENSP00000397425:R1257H	ENSP00000365908:R1616H	R	-	2	0	PRUNE2	78512163	0.049000	0.20398	0.000000	0.03702	0.165000	0.22458	-0.101000	0.10973	-0.749000	0.04747	-0.290000	0.09829	CGC		0.353	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		4	56	0	0	0	1	0	4	56					T	79322343	C	T	79322343	3	4	251	1	0	0	0	0	1	0	0	0	12641	768	27	1	4467	1	PRUNE2	9	79322343	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08		79322343	61891088	2	4432											
C11orf2	738	broad.mit.edu	37	11	64878010	64878010	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr11:64878010G>C	ENST00000279281.3	+	8	2027	c.1935G>C	c.(1933-1935)aaG>aaC	p.K645N	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000279263.7_5'Flank|VPS51_ENST00000527646.1_3'UTR|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000540748.1_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	645					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ACTCCAGCAAGAGGACTTTCT	0.637											OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ocr.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						c.(1933-1935)aaG>aaC		Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.							99	108	105					11																	64878010		2201	4297	6498	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64878010G>C	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1935G>C	11.37:g.64878010G>C	ENSP00000279281:p.Lys645Asn		Somatic	OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1079	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.K521N	p.K645N	NM_013265	NP_037397	WXS	Illumina GAIIx	Phase_I	Q9UID3	FFR_HUMAN			7	1975	+			645					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1935G>C	CCDS8093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.005779|4.005779	0.74932|0.74932	.|.	.|.	ENSG00000149823|ENSG00000149823	ENST00000279281;ENST00000530673|ENST00000526856	.|.	.|.	.|.	4.77|4.77	0.647|0.647	0.17796|0.17796	.|.	0.053764|.	0.64402|.	D|.	0.000001|.	T|T	0.56775|0.56775	0.2008|0.2008	L|L	0.57536|0.57536	1.79|1.79	0.53005|0.53005	D|D	0.999969|0.999969	P|.	0.45634|.	0.863|.	P|.	0.45276|.	0.475|.	T|T	0.50659|0.50659	-0.8802|-0.8802	9|5	0.30854|.	T|.	0.27|.	-6.0758|-6.0758	6.7776|6.7776	0.23628|0.23628	0.5474:0.0:0.4526:0.0|0.5474:0.0:0.4526:0.0	.|.	645|.	Q9UID3|.	FFR_HUMAN|.	N|T	645;19|143	.|.	ENSP00000279281:K645N|.	K|R	+|+	3|2	2|0	C11orf2|C11orf2	64634586|64634586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.854000|0.854000	0.27791|0.27791	0.276000|0.276000	0.22118|0.22118	-0.339000|-0.339000	0.08088|0.08088	AAG|AGA		0.637	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		4	193	0	0	0	1	0	4	193					C	64878010	G	C	64878010	3	2	251	1	0	0	0	0	1	0	0	0	1633	933	33	4	1965	4	C11orf2	11	64878010	Missense_Mutation	SNP	G	TCGA-EM-A2CP-01A-11D-A17V-08		64878010	70128506	3	4433											
LRRC32	2615	broad.mit.edu	37	11	76371702	76371702	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr11:76371702C>T	ENST00000407242.2	-	3	1177	c.935G>A	c.(934-936)cGc>cAc	p.R312H	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.R312H|LRRC32_ENST00000404995.1_Missense_Mutation_p.R312H	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	312					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGAAAGGGGGCGGCCGCTGGC	0.622																																						uc001oxq.4																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(934-936)cGc>cAc		Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.							18	23	21					11																	76371702		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371702C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.935G>A	11.37:g.76371702C>T	ENSP00000384126:p.Arg312His		Somatic				LRRC32_uc001oxr.4_Missense_Mutation_p.R312H|LRRC32_uc010rsf.2_Missense_Mutation_p.R312H	p.R312H	NM_005512	NP_005503	WXS	Illumina GAIIx	Phase_I	Q14392	LRC32_HUMAN			2	1178	-			312					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.935G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361592	0.01235	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04502	3.61;3.61;3.61	4.55	-1.38	0.09027	.	1.521110	0.03962	N	0.290140	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	10	0.12430	T	0.62	.	0.0462	0.00010	0.2789:0.194:0.2344:0.2927	.	312	Q14392	LRC32_HUMAN	H	312	ENSP00000260061:R312H;ENSP00000384126:R312H;ENSP00000385766:R312H	ENSP00000260061:R312H	R	-	2	0	LRRC32	76049350	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	-0.728000	0.04925	-0.007000	0.14345	-0.474000	0.04947	CGC		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		7	44	0	0	0	1	0	7	44					T	76371702	C	T	76371702	3	4	251	1	0	0	0	0	1	0	0	0	8987	768	27	1	1057	1	LRRC32	11	76371702	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08	11493692	76371702	58634814	4	4434											
C22orf31	25770	broad.mit.edu	37	22	29456530	29456530	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chr22:29456530G>C	ENST00000216071.4	-	2	356	c.305C>G	c.(304-306)tCg>tGg	p.S102W		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	102										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TAATCTCTTCGAGAGTTTTCC	0.483																																						uc003aej.1																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(304-306)tCg>tGg		Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.							109	101	103					22																	29456530		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29456530G>C	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.305C>G	22.37:g.29456530G>C	ENSP00000216071:p.Ser102Trp		Somatic					p.S102W	NM_015370	NP_056185	WXS	Illumina GAIIx	Phase_I	O95567	CV031_HUMAN			1	432	-			102					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.305C>G	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822836	0.32237	.	.	ENSG00000100249	ENST00000216071	T	0.33865	1.39	4.91	-0.893	0.10567	.	1.417790	0.04670	N	0.410474	T	0.38639	0.1048	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.57911	0.829	T	0.34104	-0.9842	10	0.59425	D	0.04	1.8066	5.525	0.16953	0.1638:0.3362:0.5:0.0	.	102	O95567	CV031_HUMAN	W	102	ENSP00000216071:S102W	ENSP00000216071:S102W	S	-	2	0	C22orf31	27786530	0.000000	0.05858	0.010000	0.14722	0.916000	0.54674	-0.117000	0.10708	0.013000	0.14918	0.585000	0.79938	TCG		0.483	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		3	141	0	0	0	1	0	3	141					C	29456530	G	C	29456530	3	2	251	1	0	0	0	0	1	0	0	0	2143	1059	37	4	575	4	C22orf31	22	29456530	Missense_Mutation	SNP	G	TCGA-EM-A2CP-01A-11D-A17V-08		29456530	21848036	5	4435											
MAGED2	10916	broad.mit.edu	37	X	54841696	54841696	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chrX:54841696C>T	ENST00000375068.1	+	12	1635	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	MAGED2_ENST00000218439.4_Missense_Mutation_p.P468S|MAGED2_ENST00000396224.1_Missense_Mutation_p.P468S|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375060.1_Missense_Mutation_p.P383S|MAGED2_ENST00000347546.4_Missense_Mutation_p.P450S|MAGED2_ENST00000375058.1_Missense_Mutation_p.P468S|MAGED2_ENST00000375062.4_Missense_Mutation_p.P383S|MAGED2_ENST00000375053.2_Missense_Mutation_p.P468S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	468	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.P468S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AAAGAAGGATCCCAAGGAATG	0.458																																						uc004dtk.1																			1	Substitution - Missense(1)	p.P468S(2)	skin(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1402-1404)Ccc>Tcc		Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.							47	47	47					X																	54841696		2202	4294	6496	SO:0001583	missense	10916							g.chrX:54841696C>T	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated protein", "breast cancer associated gene 1", "melanoma-associated antigen D2", "hepatocellular carcinoma-associated protein HCA10"	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1402C>T	X.37:g.54841696C>T	ENSP00000364209:p.Pro468Ser		Somatic				MAGED2_uc004dtl.1_Missense_Mutation_p.P468S|MAGED2_uc004dtm.1_Missense_Mutation_p.P383S|MAGED2_uc004dtn.1_Missense_Mutation_p.P468S|MAGED2_uc004dto.1_Missense_Mutation_p.P442S	p.P468S	NM_177433	NP_957516	WXS	Illumina GAIIx	Phase_I	Q9UNF1	MAGD2_HUMAN			11	1496	+			468			MAGE.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.1402C>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355027	0.61293	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.38722	3.64;3.64;3.76;3.6;1.12;3.64;3.64;1.12;3.64	4.73	4.73	0.59995	.	0.000000	0.45361	D	0.000366	T	0.62612	0.2442	M	0.73753	2.245	0.48395	D	0.999646	D;P	0.76494	0.999;0.76	D;P	0.67900	0.954;0.674	T	0.67964	-0.5534	10	0.87932	D	0	.	14.0723	0.64868	0.0:1.0:0.0:0.0	.	383;468	Q5H907;Q9UNF1	.;MAGD2_HUMAN	S	468;468;412;450;383;468;468;383;468	ENSP00000364209:P468S;ENSP00000364193:P468S;ENSP00000336962:P412S;ENSP00000340290:P450S;ENSP00000364202:P383S;ENSP00000218439:P468S;ENSP00000364198:P468S;ENSP00000364200:P383S;ENSP00000379526:P468S	ENSP00000218439:P468S	P	+	1	0	MAGED2	54858421	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.334000	0.59291	2.098000	0.63641	0.513000	0.50165	CCC		0.458	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		4	70	0	0	0	1	0	4	70					T	54841696	C	T	54841696	3	4	251	1	0	0	0	0	1	0	0	0	9184	855	30	2	1444	2	MAGED2	23	54841696	Missense_Mutation	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08		54841696	100428864	6	4436											
PRRG3	79057	broad.mit.edu	37	X	150869382	150869382	+	Silent	SNP	C	C	T			TCGA-EM-A2CP-01A-11D-A17V-08	TCGA-EM-A2CP-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8cd6882-be27-4742-bc63-3227d31bf704	e6101d92-5616-476e-8b38-8b6847ae3d48	g.chrX:150869382C>T	ENST00000370353.3	+	4	963	c.573C>T	c.(571-573)ccC>ccT	p.P191P	PRRG3_ENST00000538575.1_Silent_p.P191P			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	191						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCCTCCCCCCTCCTACG	0.647																																						uc022cgt.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(571-573)ccC>ccT		Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.							56	45	49					X																	150869382		2203	4300	6503	SO:0001819	synonymous_variant	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869382C>T	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.573C>T	X.37:g.150869382C>T			Somatic				PRRG3_uc004few.2_Silent_p.P191P	p.P191P	NM_024082	NP_076987	WXS	Illumina GAIIx	Phase_I	Q9BZD7	TMG3_HUMAN			3	622	+	Acute lymphoblastic leukemia(192;6.56e-05)		191					A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	c.573C>T	CCDS14699.1																																																																																				0.647	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		4	63	0	0	0	1	0	4	63					T	150869382	C	T	150869382	2	4	251	1	0	0	0	0	0	0	0	1	12607	610	22	2		2	PRRG3	23	150869382	Silent	SNP	C	TCGA-EM-A2CP-01A-11D-A17V-08	96027686	150869382	4401178	7	4437											
TET3	200424	broad.mit.edu	37	2	74300714	74300714	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr2:74300714C>T	ENST00000409262.3	+	2	2128	c.2128C>T	c.(2128-2130)Cac>Tac	p.H710Y		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	710					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						ATATTATACTCACTTGGGATC	0.413																																						uc002skb.4																			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.(2128-2130)Cac>Tac		Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.							51	55	54					2																	74300714		1846	4095	5941	SO:0001583	missense	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.chr2:74300714C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2128C>T	2.37:g.74300714C>T	ENSP00000386869:p.His710Tyr		Somatic				TET3_uc010fez.2_Missense_Mutation_p.H710Y	p.H710Y	NM_144993	NP_659430	WXS	Illumina GAIIx	Phase_I	O43151	TET3_HUMAN			1	2128	+			710					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2128C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889379	0.91889	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.39229	1.09	5.36	5.36	0.76844	TET cysteine-rich domain (1);	.	.	.	.	T	0.67382	0.2887	M	0.80616	2.505	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.71052	-0.4704	9	0.87932	D	0	.	18.0225	0.89259	0.0:1.0:0.0:0.0	.	710	O43151	TET3_HUMAN	Y	710	ENSP00000386869:H710Y	ENSP00000233310:H710Y	H	+	1	0	TET3	74154222	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.241000	0.78201	2.763000	0.94921	0.655000	0.94253	CAC		0.413	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	24	0	0	0	1	0	3	24					T	74300714	C	T	74300714	3	4	252	1	0	0	0	0	1	0	0	0	15768	826	29	2	2134	2	TET3	2	74300714	Missense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		74300714	168898659	1	4438											
TRNT1	51095	broad.mit.edu	37	3	3189629	3189629	+	Silent	SNP	C	C	T			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr3:3189629C>T	ENST00000251607.6	+	8	1198	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	TRNT1_ENST00000280591.6_Silent_p.L346L	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	366					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		ATGTGAACTACTGAAGTACCA	0.418																																						uc003bpp.4																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(1096-1098)Ctg>Ttg		Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.							119	111	114					3																	3189629		2203	4300	6503	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3189629C>T	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.1096C>T	3.37:g.3189629C>T			Somatic				TRNT1_uc010hbv.3_Silent_p.L346L|TRNT1_uc003bpm.2_Non-coding_Transcript	p.L366L	NM_182916	NP_886552	WXS	Illumina GAIIx	Phase_I	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	7	1198	+			366					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.1096C>T	CCDS2561.2																																																																																				0.418	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			21	60	0	0	0	1	0	21	60					T	3189629	C	T	3189629	2	4	252	1	0	0	0	0	0	0	0	1	16570	564	20	2		2	TRNT1	3	3189629	Silent	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		3189629	194832801	2	4439											
ROBO2	6092	broad.mit.edu	37	3	77626739	77626739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr3:77626739C>T	ENST00000461745.1	+	15	3202	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q768*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q784*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	768	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCCAGATCACCAGAATGGAAT	0.483																																						uc003dpz.3																			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.(2314-2316)Cag>Tag		Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.							76	76	76					3																	77626739		1890	4106	5996	SO:0001587	stop_gained	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.chr3:77626739C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2302C>T	3.37:g.77626739C>T	ENSP00000417164:p.Gln768*		Somatic				ROBO2_uc021xat.1_Nonsense_Mutation_p.Q784*|ROBO2_uc003dpy.4_Nonsense_Mutation_p.Q768*|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc011bgk.2_Nonsense_Mutation_p.Q772*	p.Q772*	NM_002942	NP_002933	WXS	Illumina GAIIx	Phase_I	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)	15	2957	+			768			Fibronectin type-III 3.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.2314C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	40	8.011514	0.98610	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	5.66	5.66	0.87406	.	0.000000	0.43747	D	0.000533	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	19.7501	0.96265	0.0:1.0:0.0:0.0	.	.	.	.	X	784;784;788;768;768;489	.	ENSP00000327536:Q768X	Q	+	1	0	ROBO2	77709429	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.818000	0.86416	2.667000	0.90743	0.491000	0.48974	CAG		0.483	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		3	51	0	0	0	1	0	3	51					T	77626739	C	T	77626739	4	4	252	1	0	0	0	0	0	1	0	0	13514	595	21	2	2362	2	ROBO2	3	77626739	Nonsense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08	74437110	77626739	120395691	3	4440											
TNXB	7148	broad.mit.edu	37	6	32037914	32037914	+	Silent	SNP	G	G	A	rs377387902		TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr6:32037914G>A	ENST00000375244.3	-	14	5469	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D	TNXB_ENST00000375247.2_Silent_p.D1756D			P22105	TENX_HUMAN	tenascin XB	1838	Fibronectin type-III 10. {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						CCGTGGTGCCGTCGGCAGTGA	0.617																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5266-5268)gaC>gaT		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							23	26	25					6																	32037914		2042	4191	6233	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.chr6:32037914G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5268C>T	6.37:g.32037914G>A			Somatic					p.D1756D	NM_019105	NP_061978	WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			13	5470	-			1838			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5268C>T																																																																																					0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	14	0	0	0	1	0	4	14					A	32037914	G	A	32037914	2	1	252	1	0	0	0	0	0	0	0	1	16343	1136	40	1		1	TNXB	6	32037914	Silent	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		32037914	139077153	4	4441											
NPC1L1	29881	broad.mit.edu	37	7	44578614	44578614	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr7:44578614G>T	ENST00000289547.4	-	2	1437	c.1382C>A	c.(1381-1383)gCa>gAa	p.A461E	NPC1L1_ENST00000423141.1_Missense_Mutation_p.A461E|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A461E|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A461E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	461					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTTGCGCTGTGCTTCGGGCGA	0.592																																						uc003tlb.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1381-1383)gCa>gAa		Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	Ezetimibe(DB00973)						103	94	97					7																	44578614		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578614G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1382C>A	7.37:g.44578614G>T	ENSP00000289547:p.Ala461Glu		Somatic				NPC1L1_uc011kbw.2_Missense_Mutation_p.A461E|NPC1L1_uc003tlc.3_Missense_Mutation_p.A461E|NPC1L1_uc003tld.3_Missense_Mutation_p.A461E	p.A461E	NM_013389	NP_037521	WXS	Illumina GAIIx	Phase_I	Q9UHC9	NPCL1_HUMAN			1	1438	-			461					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1382C>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	0.299	-0.975085	0.02215	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.8	-0.00169	0.14033	.	0.688240	0.14331	N	0.326379	T	0.69378	0.3104	N	0.02391	-0.57	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.53373	-0.8448	10	0.02654	T	1	-15.548	13.6298	0.62189	0.0:0.0:0.1643:0.8357	.	461;461;461;461	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	E	461	ENSP00000289547:A461E;ENSP00000370552:A461E;ENSP00000438033:A461E;ENSP00000404670:A461E	ENSP00000289547:A461E	A	-	2	0	NPC1L1	44545139	0.009000	0.17119	0.389000	0.26208	0.912000	0.54170	0.809000	0.27168	-0.283000	0.09115	0.407000	0.27541	GCA		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		7	42	0	0	0	1	0	7	42					T	44578614	G	T	44578614	3	4	252	1	0	0	0	0	1	0	0	0	10571	1319	46	4	2773	4	NPC1L1	7	44578614	Missense_Mutation	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		44578614	114560049	5	4442											
MGAM	8972	broad.mit.edu	37	7	141758106	141758106	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr7:141758106T>C	ENST00000549489.2	+	31	3892	c.3797T>C	c.(3796-3798)aTg>aCg	p.M1266T	MGAM_ENST00000475668.2_Missense_Mutation_p.M1266T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1266	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGATGAGATGGTGGCTGCC	0.498																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3796-3798)aTg>aCg		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						218	203	208					7																	141758106		1979	4177	6156	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758106T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3797T>C	7.37:g.141758106T>C	ENSP00000447378:p.Met1266Thr		Somatic					p.M1266T	NM_004668	NP_004659	WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			30	3851	+	Melanoma(164;0.0272)		1266			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3797T>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	t	14.97	2.694088	0.48202	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91521	-2.86	3.72	3.72	0.42706	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.92237	0.7538	M	0.76433	2.335	0.44539	D	0.997492	P	0.41784	0.762	P	0.50659	0.647	D	0.91348	0.5102	9	0.44086	T	0.13	.	11.4529	0.50164	0.0:0.0:0.0:1.0	.	1266	O43451	MGA_HUMAN	T	1266;1266;1143	ENSP00000447378:M1266T	ENSP00000316431:M1143T	M	+	2	0	MGAM	141404575	1.000000	0.71417	0.985000	0.45067	0.399000	0.30720	6.039000	0.70972	1.327000	0.45338	0.145000	0.16022	ATG		0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			91	217	0	0	0	1	0	91	217					C	141758106	T	C	141758106	3	2	252	1	0	0	0	0	1	0	0	0	9541	1464	51	3	3915	3	MGAM	7	141758106	Missense_Mutation	SNP	T	TCGA-EM-A2CQ-01A-11D-A17V-08	97179492	141758106	17380557	6	4443											
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	p.G12V	NM_033360	NP_203524	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		1	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	10	0	0	0	1	0	7	10					A	25398284	C	A	25398284	3	1	252	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-EM-A2CQ-01A-11D-A17V-08		25398284	108453611	7	4444											
ELF4	2000	broad.mit.edu	37	X	129200994	129200994	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CQ-01A-11D-A17V-08	TCGA-EM-A2CQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a10ad75-164b-40d4-81c1-e77e26e959b1	c61db865-9f07-42b6-854f-73e37b642f25	g.chrX:129200994G>T	ENST00000308167.5	-	9	2073	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	ELF4_ENST00000335997.7_Missense_Mutation_p.T565N	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTCCCTCAGGGTCTCTTCAGG	0.612			T	ERG	AML																																	uc004evd.4				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1693-1695)aCc>aAc		Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.							58	62	61					X																	129200994		2203	4300	6503	SO:0001583	missense	2000				NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129200994G>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1694C>A	X.37:g.129200994G>T	ENSP00000311280:p.Thr565Asn		Somatic				ELF4_uc004eve.4_Missense_Mutation_p.T565N	p.T565N	NM_001421	NP_001412	WXS	Illumina GAIIx	Phase_I	Q99607	ELF4_HUMAN			8	2079	-			565						Missense_Mutation	SNP	ENST00000308167.5	37	c.1694C>A	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.984093	0.53827	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.20463	2.07;2.07	4.38	4.38	0.52667	.	1.137200	0.06535	N	0.742144	T	0.25158	0.0611	L	0.27053	0.805	0.27275	N	0.958266	D	0.61080	0.989	P	0.50082	0.63	T	0.19811	-1.0294	10	0.54805	T	0.06	.	11.2545	0.49045	0.0:0.0:1.0:0.0	.	565	Q99607	ELF4_HUMAN	N	565	ENSP00000338608:T565N;ENSP00000311280:T565N	ENSP00000311280:T565N	T	-	2	0	ELF4	129028675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.340000	0.43974	2.030000	0.59900	0.431000	0.28591	ACC		0.612	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		41	111	0	0	0	1	0	41	111					T	129200994	G	T	129200994	3	4	252	1	0	0	0	0	1	0	0	0	5056	1261	44	4	301	4	ELF4	23	129200994	Missense_Mutation	SNP	G	TCGA-EM-A2CQ-01A-11D-A17V-08		129200994	26069566	8	4445											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		62	104	0	0	0	1	0	62	104					C	115256529	T	C	115256529	3	2	253	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		115256529	133994092	1	4446											
TMEM37	6344	broad.mit.edu	37	2	120194901	120194901	+	IGR	SNP	T	T	C			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr2:120194901T>C	ENST00000019103.5	-	0	1865				TMEM37_ENST00000306406.4_Missense_Mutation_p.V153A|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Missense_Mutation_p.V165A	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGAACCAAGTCACACTCATC	0.552																																						uc002tly.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(457-459)gTc>gCc		Homo sapiens transmembrane protein 37 (TMEM37), mRNA.							199	208	205					2																	120194901		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194901T>C		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194901T>C			Somatic					p.V153A	NM_183240	NP_899063	WXS	Illumina GAIIx	Phase_I	Q8WXS4	CCGL_HUMAN			1	492	+			153					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.458T>C	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	T	6.323	0.427647	0.11987	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.84	2.49	0.30216	.	0.823593	0.10571	N	0.659099	T	0.28034	0.0691	L	0.33485	1.01	0.20638	N	0.999875	B	0.06786	0.001	B	0.09377	0.004	T	0.29941	-0.9995	9	0.13470	T	0.59	-35.2795	6.9328	0.24451	0.0:0.2587:0.0:0.7413	.	153	Q8WXS4	CCGL_HUMAN	A	165;153	.	ENSP00000303148:V153A	V	+	2	0	TMEM37	119911371	0.003000	0.15002	0.909000	0.35828	0.732000	0.41865	1.123000	0.31308	0.368000	0.24481	0.460000	0.39030	GTC		0.552	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			7	363	0	0	0	1	0	7	363					C	120194901	T	C	120194901	1	2	253	0	1	0	0	0	0	0	0	0	16155	1667	58	3		3	TMEM37	2	120194901	IGR	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		120194901	123004472	2	4447											
MCF2L2	23101	broad.mit.edu	37	3	183041038	183041038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr3:183041038C>T	ENST00000328913.3	-	6	885	c.588G>A	c.(586-588)tgG>tgA	p.W196*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.W196*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.W196*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	196							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTGATTTACCCACTGACCGT	0.502																																						uc003fli.1																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(586-588)tgG>tgA		Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.							125	120	122					3																	183041038		2203	4300	6503	SO:0001587	stop_gained	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041038C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.588G>A	3.37:g.183041038C>T	ENSP00000328118:p.Trp196*		Somatic				MCF2L2_uc003flj.1_Nonsense_Mutation_p.W196*|MCF2L2_uc003flp.1_Nonsense_Mutation_p.W231*	p.W196*	NM_015078	NP_055893	WXS	Illumina GAIIx	Phase_I	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		5	678	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		196					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	c.588G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641408	0.97726	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2738	0.90077	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000328118:W196X	W	-	3	0	MCF2L2	184523732	1.000000	0.71417	0.974000	0.42286	0.802000	0.45316	5.429000	0.66495	2.610000	0.88304	0.655000	0.94253	TGG		0.502	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		4	96	0	0	0	1	0	4	96					T	183041038	C	T	183041038	4	4	253	1	0	0	0	0	0	1	0	0	9380	624	22	2	2856	2	MCF2L2	3	183041038	Nonsense_Mutation	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		183041038	14981392	3	4448											
CHRNA9	55584	broad.mit.edu	37	4	40351126	40351126	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:40351126T>C	ENST00000310169.2	+	4	732	c.593T>C	c.(592-594)aTt>aCt	p.I198T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	198					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TCTGACTTCATTGAAGATGTG	0.517																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	uc003gva.1																			0		p.F197F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(592-594)aTt>aCt		Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	Nicotine(DB00184)						225	196	206					4																	40351126		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351126T>C	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.593T>C	4.37:g.40351126T>C	ENSP00000312663:p.Ile198Thr		Somatic					p.I198T	NM_017581	NP_060051	WXS	Illumina GAIIx	Phase_I	Q9UGM1	ACHA9_HUMAN			3	609	+			198					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.593T>C	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916916	0.73098	.	.	ENSG00000174343	ENST00000310169	T	0.78481	-1.18	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel ligand-binding (3);	0.228965	0.44483	D	0.000445	T	0.72277	0.3440	N	0.12961	0.28	0.48632	D	0.999689	P	0.42296	0.775	P	0.48873	0.593	T	0.75961	-0.3133	10	0.51188	T	0.08	.	15.6992	0.77528	0.0:0.0:0.0:1.0	.	198	Q9UGM1	ACHA9_HUMAN	T	198	ENSP00000312663:I198T	ENSP00000312663:I198T	I	+	2	0	CHRNA9	40045883	1.000000	0.71417	0.841000	0.33234	0.931000	0.56810	7.884000	0.87274	2.122000	0.65172	0.459000	0.35465	ATT		0.517	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			6	191	0	0	0	1	0	6	191					C	40351126	T	C	40351126	3	2	253	1	0	0	0	0	1	0	0	0	3389	1493	52	3	607	3	CHRNA9	4	40351126	Missense_Mutation	SNP	T	TCGA-EM-A2CR-01A-11D-A17V-08		40351126	150803150	4	4449											
CXCL13	10563	broad.mit.edu	37	4	78532142	78532142	+	Splice_Site	SNP	A	A	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr4:78532142A>T	ENST00000286758.4	+	5	357	c.279A>T	c.(277-279)aaA>aaT	p.K93N		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	93					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TGCTTCACAGAAGAAGTTCTT	0.408																																						uc003hkr.3																			0				large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.e5-1		Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA.							152	160	158					4																	78532142		2203	4300	6503	SO:0001630	splice_region_variant	10563				B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	g.chr4:78532142A>T	AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"Endogenous ligands"	10639	protein-coding gene	gene with protein product	"B-cell chemoattractant"	605149	"small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.279-1A>T	4.37:g.78532142A>T			Somatic					p.K93_splice	NM_006419	NP_006410	WXS	Illumina GAIIx	Phase_I	O43927	CXL13_HUMAN			5	357	+			93						Splice_Site	SNP	ENST00000286758.4	37	c.279_splice	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690518	0.29962	.	.	ENSG00000156234	ENST00000286758	T	0.14893	2.47	4.63	-0.545	0.11843	Chemokine interleukin-8-like domain (1);	0.503050	0.21360	N	0.075801	T	0.11922	0.0290	L	0.45285	1.41	0.09310	N	1	P	0.41159	0.74	B	0.39185	0.293	T	0.16571	-1.0398	9	.	.	.	.	6.0869	0.19973	0.4996:0.3282:0.1722:0.0	.	93	O43927	CXL13_HUMAN	N	93	ENSP00000286758:K93N	.	K	+	3	2	CXCL13	78751166	0.001000	0.12720	0.003000	0.11579	0.036000	0.12997	-0.495000	0.06443	-0.335000	0.08451	-1.139000	0.01908	AAA		0.408	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1		Missense_Mutation	46	74	0	0	0	1	0	46	74					T	78532142	A	T	78532142	5	4	253	1	0	0	0	0	0	0	1	0	4081	260	9	5	293	5	CXCL13	4	78532142	Splice_Site	SNP	A	TCGA-EM-A2CR-01A-11D-A17V-08	38181016	78532142	112622134	5	4450											
PRB2	653247	broad.mit.edu	37	12	11546273	11546273	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr12:11546273G>A	ENST00000389362.4	-	3	774	c.739C>T	c.(739-741)Cca>Tca	p.P247S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	247	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.617																																						uc010shk.1																			0		p.P247Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(739-741)Cca>Tca		Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.							140	167	158					12																	11546273		2194	4287	6481	SO:0001583	missense	653247							g.chr12:11546273G>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.739C>T	12.37:g.11546273G>A	ENSP00000374013:p.Pro247Ser		Somatic					p.P247S	NM_006248	NP_006239	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	774	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.739C>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	4.359	0.066080	0.08388	.	.	ENSG00000121335	ENST00000389362	T	0.08634	3.07	1.63	-3.27	0.05048	.	.	.	.	.	T	0.07234	0.0183	M	0.62088	1.915	0.09310	N	1	B	0.23540	0.087	B	0.15870	0.014	T	0.36720	-0.9736	9	0.52906	T	0.07	.	0.4653	0.00523	0.3046:0.1879:0.3185:0.1889	.	247	P02812	PRB2_HUMAN	S	247	ENSP00000374013:P247S	ENSP00000374013:P247S	P	-	1	0	PRB2	11437540	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.110000	0.10824	-1.588000	0.01627	0.418000	0.28097	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		110	174	0	0	0	1	0	110	174					A	11546273	G	A	11546273	3	1	253	1	0	0	0	0	1	0	0	0	12443	1232	43	2	515	2	PRB2	12	11546273	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		11546273	122305622	6	4451											
NEK8	284086	broad.mit.edu	37	17	27061954	27061954	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:27061954C>T	ENST00000268766.6	+	3	452	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R140S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACAAACACCGCATGGTCGT	0.562																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.3																			1	Substitution - Missense(1)	p.R140S(2)	lung(1)	breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(418-420)Cgc>Tgc		Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.							251	201	218					17																	27061954		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061954C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.418C>T	17.37:g.27061954C>T	ENSP00000268766:p.Arg140Cys		Somatic					p.R140C	NM_178170	NP_835464	WXS	Illumina GAIIx	Phase_I	Q86SG6	NEK8_HUMAN			2	418	+	Lung NSC(42;0.0158)		140			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.418C>T	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920714	0.73213	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.24350	1.86;1.86	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000002	T	0.26122	0.0637	L	0.41492	1.28	0.80722	D	1	B	0.22003	0.063	B	0.17098	0.017	T	0.01848	-1.1261	10	0.45353	T	0.12	.	18.8738	0.92327	0.0:1.0:0.0:0.0	.	140	Q86SG6	NEK8_HUMAN	C	140	ENSP00000465859:R140C;ENSP00000268766:R140C	ENSP00000268766:R140C	R	+	1	0	NEK8	24086081	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.488000	0.81441	2.709000	0.92574	0.491000	0.48974	CGC		0.562	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			68	114	0	0	0	1	0	68	114					T	27061954	C	T	27061954	3	4	253	1	0	0	0	0	1	0	0	0	10330	652	23	1	428	1	NEK8	17	27061954	Missense_Mutation	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		27061954	54133256	7	4452											
TMEM49	81671	broad.mit.edu	37	17	57842412	57842412	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:57842412G>C	ENST00000262291.4	+	6	805	c.495G>C	c.(493-495)caG>caC	p.Q165H	VMP1_ENST00000536180.1_Missense_Mutation_p.Q68H|VMP1_ENST00000537567.1_Missense_Mutation_p.Q31H|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	165					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ATCCTGATCAGATTATTTGTC	0.388																																						uc002ixu.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(493-495)caG>caC		Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.							137	129	131					17																	57842412		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842412G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.495G>C	17.37:g.57842412G>C	ENSP00000262291:p.Gln165His		Somatic				VMP1_uc010wog.2_5'UTR|VMP1_uc010woh.2_Intron|VMP1_uc010woi.2_Missense_Mutation_p.Q68H|VMP1_uc010woj.2_Missense_Mutation_p.Q31H	p.Q165H	NM_030938	NP_112200	WXS	Illumina GAIIx	Phase_I	Q96GC9	VMP1_HUMAN			5	768	+			165					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.495G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854750	0.51376	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000536180	T;T;T	0.42513	0.97;0.97;0.97	6.06	4.07	0.47477	.	0.112825	0.64402	D	0.000008	T	0.54615	0.1869	M	0.74881	2.28	0.80722	D	1	P;P;P	0.47484	0.742;0.755;0.896	P;B;P	0.56127	0.482;0.367;0.792	T	0.51624	-0.8682	10	0.33141	T	0.24	-7.442	9.4166	0.38525	0.3221:0.0:0.6779:0.0	.	31;68;165	B4DED7;B4DGZ7;Q96GC9	.;.;VMP1_HUMAN	H	165;31;68	ENSP00000262291:Q165H;ENSP00000445130:Q31H;ENSP00000444969:Q68H	ENSP00000262291:Q165H	Q	+	3	2	VMP1	55197194	0.964000	0.33143	1.000000	0.80357	0.999000	0.98932	0.068000	0.14531	0.885000	0.36088	0.650000	0.86243	CAG		0.388	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		3	65	0	0	0	1	0	3	65					C	57842412	G	C	57842412	3	2	253	1	0	0	0	0	1	0	0	0	16170	933	33	4	513	4	TMEM49	17	57842412	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08	30780458	57842412	23352798	8	4453											
RAB37	326624	broad.mit.edu	37	17	72725494	72725494	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr17:72725494delA	ENST00000340415.3	+	2	1181	c.172delA	c.(172-174)atcfs	p.I58fs	RAB37_ENST00000402449.4_Frame_Shift_Del_p.I58fs	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	65					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CACTGTGGGCATCGGATTCAC	0.607																																						uc010dfu.3																			0		p.I58I(1)|p.I58M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(172-174)atcfs		Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 3, mRNA.							149	124	132					17																	72725494		2203	4300	6503	SO:0001589	frameshift_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72725494delA	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000340415.3:c.172delA	17.37:g.72725494delA	ENSP00000341354:p.Ile58fs		Somatic				RAB37_uc002jlc.2_Frame_Shift_Del_p.I58fs|RAB37_uc002jld.2_Frame_Shift_Del_p.I58fs	p.I58fs	NM_175738	NP_783865	WXS	Illumina GAIIx	Phase_I	Q96AX2	RAB37_HUMAN			1	642	+			65					A8MXF5|A8MYT0|Q8IWA7	Frame_Shift_Del	DEL	ENST00000340415.3	37	c.172delA																																																																																					0.607	RAB37-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000258876.2	NM_175738		60	100						60	100	---	---	---	---	-	72725494	A	-	72725494	7	5	253	1	0	1	0	1	0	0	0	0	12927	217	8	0	178	0	RAB37	17	72725494	Frame_Shift_Del	DEL	A	TCGA-EM-A2CR-01A-11D-A17V-08	14883082	72725494	8469716	9	4454											
MUC16	94025	broad.mit.edu	37	19	9084433	9084433	+	Missense_Mutation	SNP	G	G	T	rs375652147		TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:9084433G>T	ENST00000397910.4	-	1	7585	c.7382C>A	c.(7381-7383)aCa>aAa	p.T2461K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2461	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						GGCCGAGCTTGTCTCGACAGG	0.507																																						uc002mkp.3																			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.(7381-7383)aCa>aAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							63	67	65					19																	9084433		2180	4287	6467	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084433G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7382C>A	19.37:g.9084433G>T	ENSP00000381008:p.Thr2461Lys		Somatic					p.T2461K	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	7586	-			2461			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7382C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.773	-0.483988	0.04383	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2461	B5ME49	.	K	2461	ENSP00000381008:T2461K	ENSP00000381008:T2461K	T	-	2	0	MUC16	8945433	0.023000	0.18921	0.116000	0.21606	0.118000	0.20060	0.562000	0.23531	0.300000	0.22699	0.305000	0.20034	ACA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	38	0	0	0	1	0	13	38					T	9084433	G	T	9084433	3	4	253	1	0	0	0	0	1	0	0	0	9973	1377	48	4	36477	4	MUC16	19	9084433	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		9084433	50044550	10	4455											
ZNF155	7711	broad.mit.edu	37	19	44500960	44500960	+	Silent	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr19:44500960G>A	ENST00000270014.2	+	5	1079	c.951G>A	c.(949-951)agG>agA	p.R317R	ZNF155_ENST00000407951.2_Silent_p.R328R|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Silent_p.R317R|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	317					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(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AACCATTTAGGTGTGATACAT	0.413																																					NSCLC(61;554 1277 20909 42067 42312)	uc010xwt.1																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(982-984)agG>agA		Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.							120	115	117					19																	44500960		2203	4300	6503	SO:0001819	synonymous_variant	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500960G>A	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.951G>A	19.37:g.44500960G>A			Somatic				ZNF155_uc002oxy.1_Silent_p.R317R|ZNF155_uc002oxz.1_Silent_p.R317R	p.R328R	NM_198089	NP_932355	WXS	Illumina GAIIx	Phase_I	Q12901	ZN155_HUMAN			5	1168	+		Prostate(69;0.0352)	317					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Silent	SNP	ENST00000270014.2	37	c.984G>A	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	G	2.420	-0.333418	0.05278	.	.	ENSG00000204920	ENST00000425747	.	.	.	2.59	-1.15	0.09709	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.52099	D	0.999948	.	.	.	.	.	.	T	0.16778	-1.0391	5	0.23891	T	0.37	.	3.3584	0.07177	0.4622:0.0:0.3564:0.1815	.	.	.	.	D	191	.	ENSP00000401576:G191D	G	+	2	0	ZNF155	49192800	0.000000	0.05858	0.005000	0.12908	0.038000	0.13279	-4.935000	0.00168	-0.471000	0.06891	-0.379000	0.06801	GGT		0.413	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		5	104	0	0	0	1	0	5	104					A	44500960	G	A	44500960	2	1	253	1	0	0	0	0	0	0	0	1	17733	1252	44	2		2	ZNF155	19	44500960	Silent	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08	35416527	44500960	14628023	11	4456											
SIRPB1	10326	broad.mit.edu	37	20	1551539	1551539	+	Silent	SNP	C	C	T			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr20:1551539C>T	ENST00000381605.4	-	4	1060	c.996G>A	c.(994-996)gtG>gtA	p.V332V	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	332	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CATCATGCTCCACCTGACAGG	0.562																																						uc010gai.3																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(994-996)gtG>gtA		Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.							204	177	186					20																	1551539		2203	4300	6503	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551539C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.996G>A	20.37:g.1551539C>T			Somatic				SIRPB1_uc002wfk.4_Intron	p.V332V	NM_006065	NP_006056	WXS	Illumina GAIIx	Phase_I	O00241	SIRB1_HUMAN			3	1095	-			332			Ig-like C1-type 2.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.996G>A	CCDS13019.1																																																																																				0.562	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		55	96	0	0	0	1	0	55	96					T	1551539	C	T	1551539	2	4	253	1	0	0	0	0	0	0	0	1	14333	581	21	2		2	SIRPB1	20	1551539	Silent	SNP	C	TCGA-EM-A2CR-01A-11D-A17V-08		1551539	61473981	12	4457											
DGCR8	54487	broad.mit.edu	37	22	20079439	20079439	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chr22:20079439G>A	ENST00000351989.3	+	7	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	518	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463																																						uc002zri.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1552-1554)Gag>Aag		Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.							128	114	119					22																	20079439		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079439G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1552G>A	22.37:g.20079439G>A	ENSP00000263209:p.Glu518Lys		Somatic				DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K	p.E518K	NM_022720	NP_073557	WXS	Illumina GAIIx	Phase_I	Q8WYQ5	DGCR8_HUMAN			6	1981	+	Colorectal(54;0.0993)		518			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1552G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425213	0.96131	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	D;T;T	0.82344	-1.6;-0.79;-0.79	5.1	4.05	0.47172	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85099	2.735	0.80722	D	1	B;D	0.89917	0.189;1.0	B;D	0.91635	0.046;0.999	D	0.92124	0.5706	10	0.87932	D	0	-23.0849	13.8046	0.63223	0.0768:0.0:0.9232:0.0	.	518;518	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	518	ENSP00000263209:E518K;ENSP00000372488:E518K;ENSP00000384726:E518K	ENSP00000263209:E518K	E	+	1	0	DGCR8	18459439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.634000	0.89283	0.591000	0.81541	GAG		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			26	8	0	0	0	1	0	26	8					A	20079439	G	A	20079439	3	1	253	1	0	0	0	0	1	0	0	0	4464	1059	37	1	1574	1	DGCR8	22	20079439	Missense_Mutation	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		20079439	31225127	13	4458											
MAGEC2	51438	broad.mit.edu	37	X	141291129	141291129	+	Silent	SNP	G	G	A			TCGA-EM-A2CR-01A-11D-A17V-08	TCGA-EM-A2CR-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93d1a3b9-03a4-4996-a346-29265d03c432	1150e291-cd97-4352-adc9-55a58fa846b5	g.chrX:141291129G>A	ENST00000247452.3	-	3	992	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	215	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TACCCTCATCGGTGAGGCCTA	0.507										HNSCC(46;0.14)																												uc004fbu.2																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(643-645)acC>acT		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							107	98	101					X																	141291129		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291129G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.645C>T	X.37:g.141291129G>A		HNSCC(46;0.14)	Somatic				MAGEC2_uc022cfj.1_Silent_p.T215T	p.T215T	NM_016249	NP_057333	WXS	Illumina GAIIx	Phase_I	Q9UBF1	MAGC2_HUMAN			2	993	-	Acute lymphoblastic leukemia(192;6.56e-05)		215			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.645C>T	CCDS14678.1																																																																																				0.507	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		84	133	0	0	0	1	0	84	133					A	141291129	G	A	141291129	2	1	253	1	0	0	0	0	0	0	0	1	9181	1103	39	1		1	MAGEC2	23	141291129	Silent	SNP	G	TCGA-EM-A2CR-01A-11D-A17V-08		141291129	13979431	14	4459											
TP73	7161	broad.mit.edu	37	1	3599677	3599677	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr1:3599677A>G	ENST00000378295.4	+	3	274	c.119A>G	c.(118-120)gAg>gGg	p.E40G	TP73_ENST00000604074.1_Missense_Mutation_p.E40G|TP73_ENST00000604479.1_Missense_Mutation_p.E40G|TP73_ENST00000357733.3_Missense_Mutation_p.E40G|TP73_ENST00000346387.4_Missense_Mutation_p.E40G|TP73_ENST00000603362.1_Missense_Mutation_p.E40G|TP73_ENST00000354437.4_Missense_Mutation_p.E40G	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	40	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGGAATAATGAGGTGGTGGGC	0.587																																						uc001akp.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(118-120)gAg>gGg		Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.							127	122	124					1																	3599677		2203	4300	6503	SO:0001583	missense	7161				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3599677A>G	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.119A>G	1.37:g.3599677A>G	ENSP00000367545:p.Glu40Gly		Somatic				TP73_uc021ofb.1_Missense_Mutation_p.E40G|TP73_uc021ofc.1_Missense_Mutation_p.E40G|TP73_uc021ofd.1_Missense_Mutation_p.E40G|TP73_uc021ofe.1_Missense_Mutation_p.E40G|TP73_uc021off.1_Missense_Mutation_p.E40G	p.E40G	NM_005427	NP_001191121	WXS	Illumina GAIIx	Phase_I	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	2	229	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	40			Asp/Glu-rich (acidic).|Transactivation (By similarity).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.119A>G	CCDS49.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806408	0.31961	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99418	-5.73;-5.87;-5.62;-5.73	4.74	3.59	0.41128	.	0.586829	0.17223	U	0.182244	D	0.98071	0.9364	L	0.33485	1.01	0.80722	D	1	P;B	0.40332	0.713;0.41	B;B	0.43783	0.431;0.071	D	0.96664	0.9491	10	0.49607	T	0.09	-17.1579	11.1032	0.48188	0.8447:0.1553:0.0:0.0	.	40;40	O15350-2;O15350	.;P73_HUMAN	G	40	ENSP00000367545:E40G;ENSP00000346423:E40G;ENSP00000350366:E40G;ENSP00000340740:E40G	ENSP00000340740:E40G	E	+	2	0	TP73	3589537	1.000000	0.71417	0.043000	0.18650	0.178000	0.23041	3.534000	0.53568	0.747000	0.32809	0.460000	0.39030	GAG		0.587	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		3	115	0	0	0	1	0	3	115					G	3599677	A	G	3599677	3	3	254	1	0	0	0	0	1	0	0	0	16390	304	11	3	125	3	TP73	1	3599677	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08		3599677	245650944	1	4460											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	105	0	0	0	1	0	55	105					C	115256529	T	C	115256529	3	2	254	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08	111656852	115256529	133994092	2	4461											
SLC9A4	389015	broad.mit.edu	37	2	103141530	103141530	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:103141530G>T	ENST00000295269.4	+	10	2323	c.1866G>T	c.(1864-1866)aaG>aaT	p.K622N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	622					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAGTGAGAAGCAGGCTAAAG	0.498																																						uc002tbz.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1864-1866)aaG>aaT		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.							177	187	184					2																	103141530		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141530G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1866G>T	2.37:g.103141530G>T	ENSP00000295269:p.Lys622Asn		Somatic					p.K622N	NM_001011552	NP_001011552	WXS	Illumina GAIIx	Phase_I	Q6AI14	SL9A4_HUMAN			9	2323	+			622					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1866G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495305	0.26774	.	.	ENSG00000180251	ENST00000295269	T	0.42513	0.97	5.84	0.334	0.15948	.	0.442633	0.27673	N	0.018333	T	0.32585	0.0834	L	0.52206	1.635	0.35411	D	0.792411	B	0.12013	0.005	B	0.14023	0.01	T	0.30149	-0.9988	10	0.25106	T	0.35	.	10.4031	0.44241	0.43:0.0:0.57:0.0	.	622	Q6AI14	SL9A4_HUMAN	N	622	ENSP00000295269:K622N	ENSP00000295269:K622N	K	+	3	2	SLC9A4	102507962	1.000000	0.71417	0.971000	0.41717	0.037000	0.13140	1.483000	0.35497	0.114000	0.18032	-0.152000	0.13540	AAG		0.498	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		8	209	0	0	0	1	0	8	209					T	103141530	G	T	103141530	3	4	254	1	0	0	0	0	1	0	0	0	14716	962	34	4	1904	4	SLC9A4	2	103141530	Missense_Mutation	SNP	G	TCGA-EM-A2CT-01A-11D-A17V-08		103141530	140057843	3	4462											
IRS1	3667	broad.mit.edu	37	2	227661463	227661463	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:227661463C>A	ENST00000305123.5	-	1	3012	c.1992G>T	c.(1990-1992)atG>atT	p.M664I	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	664					cellular response to insulin stimulus (GO:0032869)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGGGGGACATCATCATGTAGC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1990-1992)atG>atT		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							78	75	76					2																	227661463		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661463C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1992G>T	2.37:g.227661463C>A	ENSP00000304895:p.Met664Ile		Somatic	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc021vxn.1_Missense_Mutation_p.M664I	p.M664I	NM_005544	NP_005535	WXS	Illumina GAIIx	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	2044	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	664						Missense_Mutation	SNP	ENST00000305123.5	37	c.1992G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449111	0.26074	.	.	ENSG00000169047	ENST00000305123	T	0.58652	0.32	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	L	0.39898	1.24	0.36619	D	0.875622	P	0.39831	0.69	B	0.33454	0.164	T	0.58375	-0.7647	10	0.37606	T	0.19	-15.0102	18.0712	0.89407	0.0:1.0:0.0:0.0	.	664	P35568	IRS1_HUMAN	I	664	ENSP00000304895:M664I	ENSP00000304895:M664I	M	-	3	0	IRS1	227369707	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.586000	0.53950	2.504000	0.84457	0.561000	0.74099	ATG		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		6	97	0	0	0	1	0	6	97					A	227661463	C	A	227661463	3	1	254	1	0	0	0	0	1	0	0	0	7840	826	29	4	1740	4	IRS1	2	227661463	Missense_Mutation	SNP	C	TCGA-EM-A2CT-01A-11D-A17V-08	124519933	227661463	15537910	4	4463											
NGEF	25791	broad.mit.edu	37	2	233744290	233744290	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr2:233744290A>G	ENST00000264051.3	-	15	2320	c.2042T>C	c.(2041-2043)cTc>cCc	p.L681P	NGEF_ENST00000373552.4_Missense_Mutation_p.L589P|NGEF_ENST00000539537.1_Missense_Mutation_p.L404P	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	681					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACATTCCTTGAGGTTCTGGGA	0.592																																						uc002vts.2																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(2041-2043)cTc>cCc		Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.							96	96	96					2																	233744290		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744290A>G	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2042T>C	2.37:g.233744290A>G	ENSP00000264051:p.Leu681Pro		Somatic				NGEF_uc010zmm.1_Missense_Mutation_p.L404P|NGEF_uc010fyg.1_Missense_Mutation_p.L589P	p.L681P	NM_019850	NP_062824	WXS	Illumina GAIIx	Phase_I	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	14	2290	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	681					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.2042T>C	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.028418	0.75390	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.74526	-0.64;-0.85;-0.72	4.19	4.19	0.49359	.	0.000000	0.64402	D	0.000005	T	0.77857	0.4193	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80752	-0.1242	10	0.87932	D	0	-26.5114	13.2696	0.60153	1.0:0.0:0.0:0.0	.	589;681	E9PC42;Q8N5V2	.;NGEF_HUMAN	P	681;589;571;404	ENSP00000264051:L681P;ENSP00000362653:L589P;ENSP00000439035:L404P	ENSP00000264051:L681P	L	-	2	0	NGEF	233452534	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.813000	0.75231	1.523000	0.49018	0.456000	0.33151	CTC		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		4	113	0	0	0	1	0	4	113					G	233744290	A	G	233744290	3	3	254	1	0	0	0	0	1	0	0	0	10394	304	11	3	94	3	NGEF	2	233744290	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08	6082827	233744290	9455083	5	4464											
OSMR	9180	broad.mit.edu	37	5	38925336	38925336	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr5:38925336A>G	ENST00000274276.3	+	15	2477	c.2075A>G	c.(2074-2076)gAc>gGc	p.D692G		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	692	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACAAAATTGACAACCCGGAA	0.348																																						uc003jln.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2074-2076)gAc>gGc		Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.							107	100	103					5																	38925336		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38925336A>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2075A>G	5.37:g.38925336A>G	ENSP00000274276:p.Asp692Gly		Somatic				OSMR_uc011cpj.2_5'UTR	p.D692G	NM_003999	NP_003990	WXS	Illumina GAIIx	Phase_I	Q99650	OSMR_HUMAN			14	2477	+	all_lung(31;0.000365)		692			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2075A>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	5.530	0.282690	0.10458	.	.	ENSG00000145623	ENST00000274276	T	0.53423	0.62	5.76	1.84	0.25277	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.358740	0.04094	N	0.311839	T	0.36826	0.0981	L	0.51422	1.61	0.09310	N	1	P	0.39782	0.688	B	0.28849	0.095	T	0.24083	-1.0170	10	0.24483	T	0.36	.	6.5082	0.22206	0.6971:0.1431:0.1597:0.0	.	692	Q99650	OSMR_HUMAN	G	692	ENSP00000274276:D692G	ENSP00000274276:D692G	D	+	2	0	OSMR	38961093	0.007000	0.16637	0.001000	0.08648	0.059000	0.15707	2.147000	0.42226	0.470000	0.27294	0.533000	0.62120	GAC		0.348	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		3	82	0	0	0	1	0	3	82					G	38925336	A	G	38925336	3	3	254	1	0	0	0	0	1	0	0	0	11292	275	10	3	2167	3	OSMR	5	38925336	Missense_Mutation	SNP	A	TCGA-EM-A2CT-01A-11D-A17V-08		38925336	141989924	6	4465											
SYNJ2	8871	broad.mit.edu	37	6	158505093	158505094	+	Missense_Mutation	DNP	CG	CG	AT	rs201766381|rs531292734		TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr6:158505093_158505094CG>AT	ENST00000355585.4	+	22	3170_3171	c.3095_3096CG>AT	c.(3094-3096)tCG>tAT	p.S1032Y	SYNJ2_ENST00000367121.3_Missense_Mutation_p.S1032Y|SYNJ2_ENST00000367112.1_Missense_Mutation_p.S117Y|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S1032Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1032					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCTGGAGTCTCGGACAGTGAAC	0.515																																						uc003qqx.2																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3094-3096)tcg>tAT		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.																																				SO:0001583	missense	8871						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr6:158505093_158505094CG>AT	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	Exception_encountered	6.37:g.158505093_158505094delinsAT	ENSP00000347792:p.Ser1032Tyr		Somatic				SYNJ2_uc003qqw.2_Missense_Mutation_p.S1032Y|SYNJ2_uc003qqy.2_Missense_Mutation_p.S795Y|SYNJ2_uc003qqz.2_Missense_Mutation_p.S649Y|SYNJ2_uc003qra.2_Missense_Mutation_p.S375Y	p.S1032Y	NM_003898	NP_001171559	WXS	Illumina GAIIx	Phase_I	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	21	3201_3202	+			1032					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	DNP	ENST00000355585.4	37	c.3095_3096CG>AT	CCDS5254.1																																																																																				0.515	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			7	302	0	0	0	1	0	7	302					AT	158505094	CG	AT	158505093	3	1	254	1	0	0	0	0	1	0	0	0	15450	893	31	4	3181	4	SYNJ2	6	158505093	Missense_Mutation	DNP	CG	TCGA-EM-A2CT-01A-11D-A17V-08		158505093	12609974	7	4466											
DICER1	23405	broad.mit.edu	37	14	95556886	95556886	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr14:95556886T>G	ENST00000526495.1	-	29	6009	c.5718A>C	c.(5716-5718)agA>agC	p.R1906S	DICER1_ENST00000393063.1_Missense_Mutation_p.R1906S|DICER1_ENST00000556045.1_Missense_Mutation_p.R804S|DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000343455.3_Missense_Mutation_p.R1906S|DICER1_ENST00000527414.1_Missense_Mutation_p.R1906S|DICER1_ENST00000527416.2_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1906	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAGGGCTCTTCTTGCTGCTG	0.418			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5716-5718)agA>agC		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							190	190	190					14																	95556886		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95556886T>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5718A>C	14.37:g.95556886T>G	ENSP00000437256:p.Arg1906Ser		Somatic				DICER1_uc010avh.1_Missense_Mutation_p.R804S|DICER1_uc021sbc.1_3'UTR|DICER1_uc001ydv.2_Missense_Mutation_p.R1896S|DICER1_uc001ydx.2_Missense_Mutation_p.R1906S	p.R1906S	NM_030621	NP_803187	WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5930	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1906			DRBM.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5718A>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839208	0.71373	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.96	3.07	0.35406	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.44542	1.39	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.68765	0.96;0.96	T	0.62859	-0.6765	10	0.33940	T	0.23	-26.3038	8.9484	0.35773	0.0:0.2687:0.0:0.7313	.	804;1906	B3KRG4;Q9UPY3	.;DICER_HUMAN	S	1906;1906;1906;1906;804	ENSP00000343745:R1906S;ENSP00000437256:R1906S;ENSP00000376783:R1906S;ENSP00000435681:R1906S;ENSP00000451041:R804S	ENSP00000343745:R1906S	R	-	3	2	DICER1	94626639	0.999000	0.42202	0.977000	0.42913	0.986000	0.74619	0.377000	0.20552	0.943000	0.37553	0.533000	0.62120	AGA		0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			59	106	0	0	0	1	0	59	106					G	95556886	T	G	95556886	3	3	254	1	0	0	0	0	1	0	0	0	4521	1780	62	5	54	5	DICER1	14	95556886	Missense_Mutation	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08		95556886	11792654	8	4467											
KRTAP4-12	83755	broad.mit.edu	37	17	39279800	39279800	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr17:39279800C>T	ENST00000394014.1	-	1	619	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	192						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACAAGGGGCGGGGGCAGGT	0.572																																						uc002hwa.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(574-576)cGc>cAc		Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.							63	54	57					17																	39279800		2200	4296	6496	SO:0001583	missense	83755					keratin filament		g.chr17:39279800C>T	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"Keratin associated proteins"	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.575G>A	17.37:g.39279800C>T	ENSP00000377582:p.Arg192His		Somatic					p.R192H	NM_031854	NP_114060	WXS	Illumina GAIIx	Phase_I	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	620	-		Breast(137;0.000496)	192					A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.575G>A	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698255	0.30142	.	.	ENSG00000213416	ENST00000394014;ENST00000455597	T	0.00609	6.24	4.42	3.44	0.39384	.	1.110130	0.07149	U	0.848700	T	0.02047	0.0064	L	0.55743	1.74	0.28856	N	0.895777	D	0.89917	1.0	D	0.68765	0.96	T	0.52525	-0.8564	10	0.56958	D	0.05	.	10.4338	0.44424	0.0:0.9025:0.0:0.0975	.	192	Q9BQ66	KR412_HUMAN	H	192;37	ENSP00000377582:R192H	ENSP00000377582:R192H	R	-	2	0	KRTAP4-12	36533326	0.995000	0.38212	0.973000	0.42090	0.175000	0.22909	1.298000	0.33412	1.222000	0.43521	0.462000	0.41574	CGC		0.572	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			6	17	0	0	0	1	0	6	17					T	39279800	C	T	39279800	3	4	254	1	0	0	0	0	1	0	0	0	8550	768	27	1	34	1	KRTAP4-12	17	39279800	Missense_Mutation	SNP	C	TCGA-EM-A2CT-01A-11D-A17V-08		39279800	41915410	9	4468											
WDR7	23335	broad.mit.edu	37	18	54603138	54603138	+	Splice_Site	SNP	T	T	C			TCGA-EM-A2CT-01A-11D-A17V-08	TCGA-EM-A2CT-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c031db9d-3df4-4e30-bd5f-e85ab565782c	9af44b82-f5a6-400d-b9c6-4f00b6a24bdd	g.chr18:54603138T>C	ENST00000254442.3	+	23	4042		c.e23+2		WDR7_ENST00000357574.3_Splice_Site|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7						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)		GCCAAAGAGGTGAGCGGAACT	0.517																																						uc002lgk.1																			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.e23+2		Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.							81	80	80					18																	54603138		2203	4300	6503	SO:0001630	splice_region_variant	23335							g.chr18:54603138T>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3831+2T>C	18.37:g.54603138T>C			Somatic				WDR7_uc002lgl.1_Splice_Site_p.E1244_splice	p.E1277_splice	NM_015285	NP_056100	WXS	Illumina GAIIx	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	23	4042	+			1277					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Splice_Site	SNP	ENST00000254442.3	37	c.3831_splice	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388165	0.82902	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2571	0.73593	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR7	52754136	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.727000	0.84838	2.100000	0.63781	0.477000	0.44152	.		0.517	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		Intron	10	90	0	0	0	1	0	10	90					C	54603138	T	C	54603138	5	2	254	1	0	0	0	0	0	0	1	0	17317	1710	59	3	3919	3	WDR7	18	54603138	Splice_Site	SNP	T	TCGA-EM-A2CT-01A-11D-A17V-08		54603138	23474110	10	4469											
HNRNPR	10236	broad.mit.edu	37	1	23645159	23645159	+	Silent	SNP	G	G	A			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:23645159G>A	ENST00000374612.1	-	8	957	c.834C>T	c.(832-834)ctC>ctT	p.L278L	HNRNPR_ENST00000478691.1_Silent_p.L180L|HNRNPR_ENST00000302271.6_Silent_p.L278L|HNRNPR_ENST00000606561.1_Silent_p.L139L|HNRNPR_ENST00000374616.3_Silent_p.L281L|HNRNPR_ENST00000427764.2_Silent_p.L240L|HNRNPR_ENST00000426846.2_Silent_p.L118L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	278	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTTGATGATAGAGAATAACGT	0.463																																						uc001bgp.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(841-843)ctC>ctT		Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 1, mRNA.							69	68	68					1																	23645159		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	g.chr1:23645159G>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"RNA binding motif (RRM) containing"	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.834C>T	1.37:g.23645159G>A			Somatic				HNRNPR_uc010odw.2_Silent_p.L240L|HNRNPR_uc009vql.3_Silent_p.L139L|HNRNPR_uc001bgr.4_Silent_p.L278L|HNRNPR_uc001bgs.4_Silent_p.L177L|HNRNPR_uc009vqk.3_Silent_p.L180L|HNRNPR_uc010odx.2_Silent_p.L118L	p.L281L	NM_001102398	NP_001095869	WXS	Illumina GAIIx	Phase_I	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	1002	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	278			RRM 2.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.843C>T	CCDS232.1																																																																																				0.463	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		6	17	0	0	0	1	0	6	17					A	23645159	G	A	23645159	2	1	255	1	0	0	0	0	0	0	0	1	7272	929	33	2		2	HNRNPR	1	23645159	Silent	SNP	G	TCGA-EM-A2CU-01A-12D-A17V-08		23645159	225605462	1	4470											
INADL	10207	broad.mit.edu	37	1	62550208	62550208	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr1:62550208C>G	ENST00000371158.2	+	33	4379	c.4265C>G	c.(4264-4266)tCa>tGa	p.S1422*	INADL_ENST00000545929.1_Nonsense_Mutation_p.S95*|INADL_ENST00000316485.6_Nonsense_Mutation_p.S1422*|INADL_ENST00000543708.1_Nonsense_Mutation_p.S206*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1422					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCTCCTCTGTCAGTGGACCCC	0.517																																						uc001dab.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(4264-4266)tCa>tGa		Homo sapiens InaD-like (Drosophila) (INADL), mRNA.							96	87	90					1																	62550208		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62550208C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4265C>G	1.37:g.62550208C>G	ENSP00000360200:p.Ser1422*		Somatic				INADL_uc009waf.1_Nonsense_Mutation_p.S1422*|INADL_uc001daa.2_Nonsense_Mutation_p.S1422*|INADL_uc001dad.3_Nonsense_Mutation_p.S1119*|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Nonsense_Mutation_p.S206*|INADL_uc009wag.3_Nonsense_Mutation_p.S206*|INADL_uc010oou.1_Nonsense_Mutation_p.S95*	p.S1422*	NM_176877	NP_795352	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			32	4379	+			1422					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.4265C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	44	10.559965	0.99427	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	.	.	.	5.02	5.02	0.67125	.	0.220979	0.29956	N	0.010763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.6843	0.88252	0.0:1.0:0.0:0.0	.	.	.	.	X	1422;1422;1422;1422;206;95	.	ENSP00000326199:S1422X	S	+	2	0	INADL	62322796	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.736000	0.68597	2.477000	0.83638	0.655000	0.94253	TCA		0.517	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		4	44	0	0	0	1	0	4	44					G	62550208	C	G	62550208	4	3	255	1	0	0	0	0	0	1	0	0	7731	838	29	4	4391	4	INADL	1	62550208	Nonsense_Mutation	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08	38905049	62550208	186700413	2	4471											
CHSY3	337876	broad.mit.edu	37	5	129520924	129520924	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr5:129520924A>T	ENST00000305031.4	+	3	2447	c.2089A>T	c.(2089-2091)Aga>Tga	p.R697*		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	697					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAGTTTTCCAGAGGTCTTGG	0.443																																						uc003kvd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2089-2091)Aga>Tga		Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.							83	78	79					5																	129520924		2203	4300	6503	SO:0001587	stop_gained	337876					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr5:129520924A>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2089A>T	5.37:g.129520924A>T	ENSP00000302629:p.Arg697*		Somatic					p.R697*	NM_175856	NP_787052	WXS	Illumina GAIIx	Phase_I	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	2089	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	697					B2RP97|Q76L22|Q86Y52	Nonsense_Mutation	SNP	ENST00000305031.4	37	c.2089A>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	38	7.229103	0.98150	.	.	ENSG00000198108	ENST00000305031	.	.	.	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7644	14.5729	0.68224	1.0:0.0:0.0:0.0	.	.	.	.	X	697	.	.	R	+	1	2	CHSY3	129548823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.787000	0.55439	2.171000	0.68590	0.528000	0.53228	AGA		0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		8	30	0	0	0	1	0	8	30					T	129520924	A	T	129520924	4	4	255	1	0	0	0	0	0	1	0	0	3413	180	7	5	2099	5	CHSY3	5	129520924	Nonsense_Mutation	SNP	A	TCGA-EM-A2CU-01A-12D-A17V-08		129520924	51394336	3	4472											
OR5J2	282775	broad.mit.edu	37	11	55944860	55944860	+	Missense_Mutation	SNP	T	T	C	rs139886298		TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr11:55944860T>C	ENST00000312298.1	+	1	767	c.767T>C	c.(766-768)aTc>aCc	p.I256T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTACCTTAATCTTTAGCTAC	0.448																																						uc010rjb.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(766-768)aTc>aCc		Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.		G	THR/ILE	0,4402		0,0,2201	127	123	125		767	-0.3	0.0	11	dbSNP_134	125	1,8591		0,1,4295	no	missense	OR5J2	NM_001005492.1	89	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	benign	256/313	55944860	1,12993	2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944860T>C	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.767T>C	11.37:g.55944860T>C	ENSP00000310788:p.Ile256Thr		Somatic					p.I256T	NM_001005492	NP_001005492	WXS	Illumina GAIIx	Phase_I	Q8NH18	OR5J2_HUMAN			0	767	+	Esophageal squamous(21;0.00693)		256					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.767T>C	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788714	0.16258	0.0	1.16E-4	ENSG00000174957	ENST00000312298	T	0.40756	1.02	4.26	-0.334	0.12666	GPCR, rhodopsin-like superfamily (1);	0.181808	0.38778	N	0.001568	T	0.25680	0.0625	L	0.39020	1.185	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.10337	-1.0634	10	0.42905	T	0.14	.	4.3038	0.10937	0.0884:0.1091:0.2091:0.5933	.	256	Q8NH18	OR5J2_HUMAN	T	256	ENSP00000310788:I256T	ENSP00000310788:I256T	I	+	2	0	OR5J2	55701436	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.186000	0.03070	0.059000	0.16252	-0.912000	0.02778	ATC		0.448	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		4	63	0	0	0	1	0	4	63					C	55944860	T	C	55944860	3	2	255	1	0	0	0	0	1	0	0	0	11165	1435	50	3	769	3	OR5J2	11	55944860	Missense_Mutation	SNP	T	TCGA-EM-A2CU-01A-12D-A17V-08		55944860	79061656	4	4473											
RGS6	9628	broad.mit.edu	37	14	72961895	72961895	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr14:72961895A>G	ENST00000553530.1	+	13	1097	c.890A>G	c.(889-891)gAc>gGc	p.D297G	RGS6_ENST00000553525.1_Missense_Mutation_p.D297G|RGS6_ENST00000404301.2_Missense_Mutation_p.D297G|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000555571.1_Missense_Mutation_p.D297G|RGS6_ENST00000556437.1_Missense_Mutation_p.D297G|RGS6_ENST00000554782.1_Missense_Mutation_p.D158G|RGS6_ENST00000406236.4_Missense_Mutation_p.D297G|RGS6_ENST00000355512.6_Missense_Mutation_p.D297G|RGS6_ENST00000407322.4_Missense_Mutation_p.D297G|RGS6_ENST00000402788.2_Missense_Mutation_p.D297G|RGS6_ENST00000434263.2_Missense_Mutation_p.D228G	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	297	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTGGAATATGACCCTTTGATA	0.428																																					Ovarian(143;1926 2468 21071 48641)	uc010ttp.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(682-684)gAc>gGc		Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 4, mRNA.							220	193	202					14																	72961895		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72961895A>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.890A>G	14.37:g.72961895A>G	ENSP00000452331:p.Asp297Gly		Somatic				RGS6_uc021rvv.1_Missense_Mutation_p.D262G|RGS6_uc001xna.4_Missense_Mutation_p.D297G|RGS6_uc010ttn.2_Missense_Mutation_p.D297G|RGS6_uc021rvw.1_Missense_Mutation_p.D297G|RGS6_uc021rvx.1_Missense_Mutation_p.D297G|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.D297G|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D297G|RGS6_uc021rwa.1_Intron|RGS6_uc021rwb.1_Intron|RGS6_uc021rwc.1_Missense_Mutation_p.D158G	p.D228G	NM_001204418	NP_001191347	WXS	Illumina GAIIx	Phase_I	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	10	786	+			297					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.683A>G	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473542	0.84640	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.81	5.81	0.92471	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	M	0.91459	3.21	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	0.93351	0.6718	10	0.87932	D	0	-7.9205	15.1525	0.72713	1.0:0.0:0.0:0.0	.	228;297;302;297	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	G	297;297;297;297;297;297;297;297;297;269;228;158;158	ENSP00000451030:D297G;ENSP00000450936:D297G;ENSP00000452331:D297G;ENSP00000451855:D297G;ENSP00000347699:D297G;ENSP00000385243:D297G;ENSP00000384218:D297G;ENSP00000384612:D297G;ENSP00000383953:D297G;ENSP00000412144:D228G;ENSP00000451912:D158G	ENSP00000347699:D297G	D	+	2	0	RGS6	72031648	1.000000	0.71417	0.781000	0.31783	0.855000	0.48748	8.126000	0.89592	2.217000	0.71921	0.533000	0.62120	GAC		0.428	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			3	76	0	0	0	1	0	3	76					G	72961895	A	G	72961895	3	3	255	1	0	0	0	0	1	0	0	0	13309	275	10	3	936	3	RGS6	14	72961895	Missense_Mutation	SNP	A	TCGA-EM-A2CU-01A-12D-A17V-08		72961895	34387645	5	4474											
CHTF18	63922	broad.mit.edu	37	16	845756	845756	+	Silent	SNP	C	C	T			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr16:845756C>T	ENST00000262315.9	+	17	2310	c.2247C>T	c.(2245-2247)cgC>cgT	p.R749R	CHTF18_ENST00000317063.6_Silent_p.R958R|CHTF18_ENST00000455171.2_Silent_p.R777R	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	749					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGCCACGCGCAGCCGGGCCA	0.701																																						uc002ckf.4																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2329-2331)cgC>cgT		Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.							16	22	20					16																	845756		2099	4187	6286	SO:0001819	synonymous_variant	63922				DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:845756C>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2247C>T	16.37:g.845756C>T			Somatic				CHTF18_uc002cke.4_Silent_p.R749R|CHTF18_uc010brf.3_Silent_p.R331R|CHTF18_uc002ckg.4_Silent_p.R267R	p.R777R	NM_022092	NP_071375	WXS	Illumina GAIIx	Phase_I	Q8WVB6	CTF18_HUMAN			15	2394	+		Hepatocellular(780;0.00335)	749					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	ENST00000262315.9	37	c.2331C>T	CCDS45371.1																																																																																				0.701	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		5	13	0	0	0	1	0	5	13					T	845756	C	T	845756	2	4	255	1	0	0	0	0	0	0	0	1	3414	697	25	2		2	CHTF18	16	845756	Silent	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08		845756	89508997	6	4475											
FERMT1	55612	broad.mit.edu	37	20	6065760	6065760	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chr20:6065760C>G	ENST00000217289.4	-	12	2334	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.E259Q	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	516	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACAAAACATTCTGGGTTCATA	0.418																																						uc002wmr.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17	GRCh37	CM074077	FERMT1	M		c.(1546-1548)Gaa>Caa		Homo sapiens fermitin family member 1 (FERMT1), mRNA.							139	125	130					20																	6065760		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6065760C>G	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1546G>C	20.37:g.6065760C>G	ENSP00000217289:p.Glu516Gln		Somatic				FERMT1_uc002wmq.3_Missense_Mutation_p.E69Q|FERMT1_uc010gbt.3_Missense_Mutation_p.E259Q	p.E516Q	NM_017671	NP_060141	WXS	Illumina GAIIx	Phase_I	Q9BQL6	FERM1_HUMAN			11	2335	-			516			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1546G>C	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	c	18.04	3.535230	0.64972	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.72167	-0.63;-0.63	5.17	5.17	0.71159	Band 4.1 domain (1);FERM central domain (2);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.78934	-0.2008	10	0.33141	T	0.24	-25.0717	19.0514	0.93049	0.0:1.0:0.0:0.0	.	516	Q9BQL6	FERM1_HUMAN	Q	516;259;516	ENSP00000217289:E516Q;ENSP00000441063:E259Q	ENSP00000217289:E516Q	E	-	1	0	FERMT1	6013760	1.000000	0.71417	0.906000	0.35671	0.427000	0.31564	7.765000	0.85310	2.552000	0.86080	0.556000	0.70494	GAA		0.418	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		3	50	0	0	0	1	0	3	50					G	6065760	C	G	6065760	3	3	255	1	0	0	0	0	1	0	0	0	5817	922	32	4	503	4	FERMT1	20	6065760	Missense_Mutation	SNP	C	TCGA-EM-A2CU-01A-12D-A17V-08		6065760	56959760	7	4476											
ARHGEF6	9459	broad.mit.edu	37	X	135827439	135827439	+	Silent	SNP	G	G	A			TCGA-EM-A2CU-01A-12D-A17V-08	TCGA-EM-A2CU-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788fbfaa-51bf-42a4-afa6-5b87ed04c2d5	f0c68997-7104-43fb-b949-3ea4b958aab9	g.chrX:135827439G>A	ENST00000250617.6	-	4	1607	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	134					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCCCTGTGGGTTTGTCTGAG	0.433																																						uc004fab.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(400-402)aaC>aaT		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							224	201	209					X																	135827439		2203	4300	6503	SO:0001819	synonymous_variant	9459				JNK cascade|apoptosis|cell junction assembly|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|Rho guanyl-nucleotide exchange factor activity	g.chrX:135827439G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.402C>T	X.37:g.135827439G>A			Somatic				ARHGEF6_uc011mwd.2_5'UTR|ARHGEF6_uc011mwe.2_5'UTR	p.N134N	NM_004840	NP_004831	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			3	864	-	Acute lymphoblastic leukemia(192;0.000127)		134					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.402C>T	CCDS14660.1																																																																																				0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		53	92	0	0	0	1	0	53	92					A	135827439	G	A	135827439	2	1	255	1	0	0	0	0	0	0	0	1	910	1252	44	2		2	ARHGEF6	23	135827439	Silent	SNP	G	TCGA-EM-A2CU-01A-12D-A17V-08		135827439	19443121	8	4477											
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	G	A	rs147335121		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:152275656G>A	ENST00000368799.1	-	3	11741	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis																													uc001ezu.1																			0		p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11704-11706)ccC>ccT		Homo sapiens filaggrin (FLG), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	89	91	91		11706	-3.4	0.0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		3902/4062	152275656	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275656G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11706C>T	1.37:g.152275656G>A			Somatic					p.P3902P	NM_002016	NP_002007	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11742	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3902			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11706C>T	CCDS30860.1																																																																																				0.517	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	95	0	0	0	1	0	5	95					A	152275656	G	A	152275656	2	1	256	1	0	0	0	0	0	0	0	1	5922	1103	39	1		1	FLG	1	152275656	Silent	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		152275656	96974965	1	4478											
DCST2	127579	broad.mit.edu	37	1	155004126	155004126	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:155004126C>T	ENST00000368424.3	-	4	721	c.663G>A	c.(661-663)atG>atA	p.M221I	DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.M221I|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000295542.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	221						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			GTATGACCATCATGCAGCTGT	0.567																																						uc001fgm.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(661-663)atG>atA		Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.							156	119	131					1																	155004126		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155004126C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.663G>A	1.37:g.155004126C>T	ENSP00000357409:p.Met221Ile		Somatic				DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	p.M221I	NM_144622	NP_653223	WXS	Illumina GAIIx	Phase_I	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	743	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		221					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.663G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731635	0.30684	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.24350	1.86;1.9	5.67	5.67	0.87782	.	0.359362	0.27720	N	0.018138	T	0.11410	0.0278	L	0.34521	1.04	0.30688	N	0.751622	B	0.25667	0.131	B	0.21546	0.035	T	0.05533	-1.0879	10	0.44086	T	0.13	-32.209	16.674	0.85274	0.0:1.0:0.0:0.0	.	221	Q5T1A1	DCST2_HUMAN	I	221	ENSP00000357409:M221I;ENSP00000295536:M221I	ENSP00000295536:M221I	M	-	3	0	DCST2	153270750	0.985000	0.35326	0.921000	0.36526	0.026000	0.11368	2.745000	0.47459	2.678000	0.91216	0.655000	0.94253	ATG		0.567	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		10	112	0	0	0	1	0	10	112					T	155004126	C	T	155004126	3	4	256	1	0	0	0	0	1	0	0	0	4303	826	29	2	1706	2	DCST2	1	155004126	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	2728470	155004126	94246495	2	4479											
APOB	338	broad.mit.edu	37	2	21231425	21231425	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:21231425T>A	ENST00000233242.1	-	26	8442	c.8315A>T	c.(8314-8316)gAt>gTt	p.D2772V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2772					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCATTTGCATCTAATGTGAA	0.428																																						uc002red.3																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8314-8316)gAt>gTt		Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	Atorvastatin(DB01076)						129	129	129					2																	21231425		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231425T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8315A>T	2.37:g.21231425T>A	ENSP00000233242:p.Asp2772Val		Somatic					p.D2772V	NM_000384	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			25	8443	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2772					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8315A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	8.749	0.920741	0.17982	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00730	5.77	5.37	5.37	0.77165	.	0.000000	0.48767	D	0.000161	T	0.01124	0.0037	M	0.65975	2.015	0.28069	N	0.93266	P	0.40731	0.728	B	0.31946	0.138	T	0.46428	-0.9192	10	0.46703	T	0.11	.	10.803	0.46500	0.0:0.0:0.2876:0.7124	.	2772	P04114	APOB_HUMAN	V	2772	ENSP00000233242:D2772V	ENSP00000233242:D2772V	D	-	2	0	APOB	21084930	0.077000	0.21312	0.429000	0.26710	0.032000	0.12392	1.583000	0.36579	2.037000	0.60232	0.459000	0.35465	GAT		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	174	0	0	0	1	0	10	174					A	21231425	T	A	21231425	3	1	256	1	0	0	0	0	1	0	0	0	785	1435	50	5	5392	5	APOB	2	21231425	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08		21231425	221967948	3	4480											
YSK4	80122	broad.mit.edu	37	2	135744495	135744495	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:135744495C>G	ENST00000375845.3	-	7	1977	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M666I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M536I|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	649							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTTCTTTGAACATATCACTAT	0.393																																						uc002tue.1																			0		p.A649T(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1945-1947)atG>atC		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							129	132	131					2																	135744495		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744495C>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	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		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1947G>C	2.37:g.135744495C>G	ENSP00000365005:p.Met649Ile		Somatic				YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.M536I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.M377I|YSK4_uc002tui.4_Missense_Mutation_p.M666I	p.M649I	NM_025052	NP_079328	WXS	Illumina GAIIx	Phase_I	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1978	-			649					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1947G>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566222	0.65651	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.79749	-1.3;-1.22;1.04;-1.28	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000006	D	0.85605	0.5735	L	0.47190	1.495	0.80722	D	1	D;D;D	0.60575	0.976;0.988;0.959	P;D;P	0.66351	0.81;0.943;0.65	D	0.86518	0.1814	10	0.87932	D	0	.	14.5995	0.68429	0.1458:0.8542:0.0:0.0	.	536;666;649	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	649;536;666;39	ENSP00000365005:M649I;ENSP00000351140:M536I;ENSP00000376647:M666I;ENSP00000392827:M39I	ENSP00000351140:M536I	M	-	3	0	YSK4	135460965	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.538000	0.60650	2.667000	0.90743	0.561000	0.74099	ATG		0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		3	221	0	0	0	1	0	3	221					G	135744495	C	G	135744495	3	3	256	1	0	0	0	0	1	0	0	0	17492	478	17	4	2055	4	YSK4	2	135744495	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	114513070	135744495	107454878	4	4481											
CD28	940	broad.mit.edu	37	2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:204594418T>C	ENST00000324106.8	+	3	606	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	CD28_ENST00000458610.2_Missense_Mutation_p.F167L|CD28_ENST00000374481.3_Missense_Mutation_p.F69L|CD28_ENST00000374478.4_Missense_Mutation_p.F34L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	153					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443																																						uc002vah.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(457-459)Ttt>Ctt		Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.							201	191	195					2																	204594418		2203	4300	6503	SO:0001583	missense	940				T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding	g.chr2:204594418T>C	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.457T>C	2.37:g.204594418T>C	ENSP00000324890:p.Phe153Leu		Somatic				CD28_uc010zio.2_Missense_Mutation_p.F56L|CD28_uc010ftx.3_Missense_Mutation_p.F34L|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript	p.F153L	NM_006139	NP_006130	WXS	Illumina GAIIx	Phase_I	P10747	CD28_HUMAN			2	679	+			153					A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.457T>C	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	T	5.751	0.322926	0.10900	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.59	5.59	0.84812	.	0.330618	0.33382	N	0.004978	T	0.79834	0.4514	M	0.80982	2.52	0.38004	D	0.934333	P;B	0.36315	0.547;0.007	B;B	0.33339	0.162;0.009	T	0.81521	-0.0895	10	0.33141	T	0.24	-40.368	13.437	0.61090	0.0:0.0:0.0:1.0	.	34;153	P10747-2;P10747	.;CD28_HUMAN	L	69;167;153;34	ENSP00000363605:F69L;ENSP00000393648:F167L;ENSP00000324890:F153L;ENSP00000363602:F34L	ENSP00000324890:F153L	F	+	1	0	CD28	204302663	0.998000	0.40836	0.918000	0.36340	0.031000	0.12232	4.577000	0.60922	2.254000	0.74563	0.459000	0.35465	TTT		0.443	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		3	186	0	0	0	1	0	3	186					C	204594418	T	C	204594418	3	2	256	1	0	0	0	0	1	0	0	0	2993	1609	56	3	467	3	CD28	2	204594418	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	68849923	204594418	38604955	5	4482											
KIF1A	547	broad.mit.edu	37	2	241724413	241724413	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:241724413G>A	ENST00000320389.7	-	7	871	c.713C>T	c.(712-714)aCg>aTg	p.T238M	KIF1A_ENST00000498729.2_Missense_Mutation_p.T238M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCTTCTCCGTGGTGATATT	0.612																																						uc010fzk.3																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(712-714)aCg>aTg		Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.							213	223	219					2																	241724413		2199	4299	6498	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241724413G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.713C>T	2.37:g.241724413G>A	ENSP00000322791:p.Thr238Met		Somatic				KIF1A_uc002vzy.3_Missense_Mutation_p.T238M|KIF1A_uc002vzz.2_Missense_Mutation_p.T238M	p.T238M	NM_001244008	NP_001230937	WXS	Illumina GAIIx	Phase_I	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	6	960	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	238			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.713C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894705	0.52121	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75477	-0.94;-0.94;-0.94	4.04	4.04	0.47022	Kinesin, motor domain (4);	0.192157	0.43747	U	0.000538	D	0.82536	0.5058	M	0.74881	2.28	0.80722	D	1	D;D;D	0.69078	0.997;0.993;0.981	P;P;P	0.56434	0.798;0.581;0.696	D	0.85164	0.0994	10	0.52906	T	0.07	.	16.5652	0.84577	0.0:0.0:1.0:0.0	.	238;238;238	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	M	238	ENSP00000322791:T238M;ENSP00000438388:T238M;ENSP00000384231:T238M	ENSP00000322791:T238M	T	-	2	0	KIF1A	241373086	1.000000	0.71417	0.974000	0.42286	0.282000	0.26991	9.441000	0.97557	1.965000	0.57142	0.563000	0.77884	ACG		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	165	0	0	0	1	0	4	165					A	241724413	G	A	241724413	3	1	256	1	0	0	0	0	1	0	0	0	8283	1145	40	1	4523	1	KIF1A	2	241724413	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	37129995	241724413	1474960	6	4483											
GRIP2	80852	broad.mit.edu	37	3	14558718	14558718	+	RNA	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:14558718A>G	ENST00000273083.3	-	0	1224							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTTGAAGACAAGGCTGGGGA	0.612																																						uc021wtn.1																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						c.(1447-1449)tTg>tCg		Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.							93	104	100					3																	14558718		2035	4180	6215			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14558718A>G	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558718A>G			Somatic					p.L483S	NM_001080423	NP_001073892	WXS	Illumina GAIIx	Phase_I	Q9C0E4	GRIP2_HUMAN			12	1448	-			387			PDZ 4.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1448T>C																																																																																					0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	52	0	0	0	1	0	4	52					G	14558718	A	G	14558718	1	3	256	0	1	0	0	0	0	0	0	0	6788	131	5	3		3	GRIP2	3	14558718	RNA	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		14558718	183463712	7	4484											
EPHB1	2047	broad.mit.edu	37	3	134960104	134960104	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:134960104G>A	ENST00000398015.3	+	13	2831	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	EPHB1_ENST00000493838.1_Missense_Mutation_p.G382R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATGTCATTTGGAGAGAGACC	0.517																																						uc003eqt.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2461-2463)Gga>Aga		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							282	287	285					3																	134960104		2111	4265	6376	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134960104G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2461G>A	3.37:g.134960104G>A	ENSP00000381097:p.Gly821Arg		Somatic				EPHB1_uc003equ.3_Missense_Mutation_p.G382R	p.G821R	NM_004441	NP_004432	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			12	2836	+			821			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2461G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185158	0.94885	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.71461	-0.57;-0.57	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060752	0.64402	D	0.000003	D	0.84822	0.5557	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86653	0.1899	10	0.87932	D	0	.	18.5321	0.90996	0.0:0.0:1.0:0.0	.	821	P54762	EPHB1_HUMAN	R	821;382	ENSP00000381097:G821R;ENSP00000419574:G382R	ENSP00000381097:G821R	G	+	1	0	EPHB1	136442794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.608000	0.88229	0.655000	0.94253	GGA		0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		112	207	0	0	0	1	0	112	207					A	134960104	G	A	134960104	3	1	256	1	0	0	0	0	1	0	0	0	5174	1349	47	2	2511	2	EPHB1	3	134960104	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	120401386	134960104	63062326	8	4485											
SMARCA5	8467	broad.mit.edu	37	4	144466691	144466691	+	Silent	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr4:144466691A>G	ENST00000283131.3	+	18	2814	c.2352A>G	c.(2350-2352)ttA>ttG	p.L784L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	784					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TATTTGAATTACTGGAAAAAG	0.338																																						uc003ijg.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2350-2352)ttA>ttG		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.							64	69	67					4																	144466691		2203	4300	6503	SO:0001819	synonymous_variant	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144466691A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2352A>G	4.37:g.144466691A>G			Somatic					p.L784L	NM_003601	NP_003592	WXS	Illumina GAIIx	Phase_I	O60264	SMCA5_HUMAN			17	2814	+	all_hematologic(180;0.158)		784						Silent	SNP	ENST00000283131.3	37	c.2352A>G	CCDS3761.1																																																																																				0.338	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			3	68	0	0	0	1	0	3	68					G	144466691	A	G	144466691	2	3	256	1	0	0	0	0	0	0	0	1	14771	388	14	3		3	SMARCA5	4	144466691	Silent	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		144466691	46687585	9	4486											
ZBTB22	9278	broad.mit.edu	37	6	33283609	33283609	+	Missense_Mutation	SNP	C	C	T	rs147840428		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:33283609C>T	ENST00000431845.2	-	2	1236	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	362					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(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACTCAGGGTACGGACATCACT	0.577													C|||	1	0.000199681	0	0	5008	,	,		17836	0		0.001	False		,,,				2504	0					uc003oeb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1084-1086)cGt>cAt		Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.							110	104	106					6																	33283609		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283609C>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1085G>A	6.37:g.33283609C>T	ENSP00000407545:p.Arg362His		Somatic				TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.R362H|ZBTB22_uc021ywm.1_Missense_Mutation_p.R362H	p.R362H	NM_005453	NP_005444	WXS	Illumina GAIIx	Phase_I	O15209	ZBT22_HUMAN			1	1237	-			362					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1085G>A	CCDS4775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.73	2.624012	0.46840	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.10573	2.86;2.86	3.7	3.7	0.42460	.	.	.	.	.	T	0.10208	0.0250	L	0.39898	1.24	0.43569	D	0.995891	D	0.71674	0.998	P	0.54346	0.749	T	0.03695	-1.1012	9	0.62326	D	0.03	.	12.9838	0.58579	0.0:1.0:0.0:0.0	.	362	O15209	ZBT22_HUMAN	H	362	ENSP00000404403:R362H;ENSP00000407545:R362H	ENSP00000404403:R362H	R	-	2	0	ZBTB22	33391587	1.000000	0.71417	0.985000	0.45067	0.775000	0.43874	4.254000	0.58798	1.909000	0.55274	0.448000	0.29417	CGT		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			4	126	0	0	0	1	0	4	126					T	33283609	C	T	33283609	3	4	256	1	0	0	0	0	1	0	0	0	17527	536	19	1	823	1	ZBTB22	6	33283609	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		33283609	137831458	10	4487											
RIMS1	22999	broad.mit.edu	37	6	72968798	72968798	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:72968798T>G	ENST00000521978.1	+	18	3037	c.3037T>G	c.(3037-3039)Tta>Gta	p.L1013V	RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000491071.2_Missense_Mutation_p.L1013V|RIMS1_ENST00000348717.5_Missense_Mutation_p.L1012V|RIMS1_ENST00000517960.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000518273.1_Missense_Mutation_p.L1013V|RIMS1_ENST00000264839.7_Missense_Mutation_p.L1013V|RIMS1_ENST00000517827.1_Missense_Mutation_p.L472V|RIMS1_ENST00000401910.3_Missense_Mutation_p.L486V|RIMS1_ENST00000425662.2_Missense_Mutation_p.L406V|RIMS1_ENST00000522291.1_Missense_Mutation_p.L1012V|RIMS1_ENST00000523963.1_Missense_Mutation_p.L487V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1013					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTCAGTATTTATCAGAACA	0.363																																						uc003pga.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3037-3039)Tta>Gta		Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.							104	102	103					6																	72968798		1889	4113	6002	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	g.chr6:72968798T>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3037T>G	6.37:g.72968798T>G	ENSP00000428417:p.Leu1013Val		Somatic				RIMS1_uc011dyb.2_Missense_Mutation_p.L638V|RIMS1_uc003pgc.3_Missense_Mutation_p.L639V|RIMS1_uc010kaq.3_Missense_Mutation_p.L486V|RIMS1_uc011dyc.2_Missense_Mutation_p.L487V|RIMS1_uc010kar.3_Missense_Mutation_p.L406V|RIMS1_uc011dyd.2_Missense_Mutation_p.L472V|RIMS1_uc003pge.3_Missense_Mutation_p.L230V|RIMS1_uc003pgf.3_Missense_Mutation_p.L229V|RIMS1_uc003pgi.3_Missense_Mutation_p.L229V|RIMS1_uc003pgg.3_Missense_Mutation_p.L230V|RIMS1_uc003pgh.3_Missense_Mutation_p.L229V|RIMS1_uc003pgd.3_Missense_Mutation_p.L230V|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.L639V|RIMS1_uc010kas.1_Missense_Mutation_p.L472V	p.L1013V	NM_014989	NP_055804	WXS	Illumina GAIIx	Phase_I	Q86UR5	RIMS1_HUMAN			17	3114	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1013					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3037T>G	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	11.79|11.79|11.79	1.743339|1.743339|1.743339	0.30865|0.30865|0.30865	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.17370	.|.|2.55;2.62;2.59;2.62;2.68;2.69;2.6;2.59;2.68;2.69;2.68;2.46;2.67;2.28	5.83|5.83|5.83	4.67|4.67|4.67	0.58626|0.58626|0.58626	.|.|.	.|.|0.120924	.|.|0.36555	.|.|N	.|.|0.002523	T|T|T	0.16214|0.16214|0.16214	0.0390|0.0390|0.0390	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B;B;P;B;P;B;B;D;B;P;P	.|.|0.58268	.|.|0.035;0.256;0.437;0.633;0.005;0.745;0.204;0.047;0.982;0.003;0.58;0.77	.|.|B;B;B;B;B;B;B;B;D;B;B;B	.|.|0.67548	.|.|0.01;0.052;0.207;0.184;0.006;0.276;0.046;0.024;0.952;0.01;0.137;0.207	T|T|T	0.02512|0.02512|0.02512	-1.1148|-1.1148|-1.1148	5|5|10	.|.|0.33940	.|.|T	.|.|0.23	-4.754|-4.754|-4.754	12.0236|12.0236|12.0236	0.53358|0.53358|0.53358	0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326	.|.|.	.|.|472;487;1013;472;486;1012;265;1013;1012;266;1013;1013	.|.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	C|M|V	586|103|1013;1013;1013;1012;1013;1012;1013;1012;1013;1012;1012;1013;486;487;406;406;472;238	.|.|ENSP00000430101:L1013V;ENSP00000275037:L1012V;ENSP00000264839:L1013V;ENSP00000429959:L1012V;ENSP00000430408:L1013V;ENSP00000430502:L1012V;ENSP00000430932:L1012V;ENSP00000428417:L1013V;ENSP00000385649:L486V;ENSP00000428328:L487V;ENSP00000411235:L406V;ENSP00000389503:L406V;ENSP00000428367:L472V;ENSP00000359448:L238V	.|.|ENSP00000264839:L1013V	F|I|L	+|+|+	2|3|1	0|3|2	RIMS1|RIMS1|RIMS1	73025519|73025519|73025519	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.880000|0.880000|0.880000	0.50808|0.50808|0.50808	2.470000|2.470000|2.470000	0.45119|0.45119|0.45119	1.035000|1.035000|1.035000	0.39972|0.39972|0.39972	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|ATT|TTA		0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			20	37	0	0	0	1	0	20	37					G	72968798	T	G	72968798	3	3	256	1	0	0	0	0	1	0	0	0	13367	1838	64	5	3270	5	RIMS1	6	72968798	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	39685189	72968798	98146269	11	4488											
MTHFD1L	25902	broad.mit.edu	37	6	151239804	151239804	+	Splice_Site	SNP	G	G	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:151239804G>C	ENST00000367321.3	+	9	1258	c.984G>C	c.(982-984)caG>caC	p.Q328H		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	328	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCGAATTCAGGTTTGTTCAA	0.403																																						uc021zgs.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.e9+1		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							165	163	164					6																	151239804		2203	4300	6503	SO:0001630	splice_region_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151239804G>C	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.984+1G>C	6.37:g.151239804G>C			Somatic				MTHFD1L_uc011een.2_Splice_Site|MTHFD1L_uc003qob.3_Splice_Site_p.Q328_splice|MTHFD1L_uc021zgt.1_Splice_Site_p.Q263_splice|MTHFD1L_uc003qoc.3_Splice_Site_p.Q276_splice	p.Q329_splice	NM_001242767	NP_001229696	WXS	Illumina GAIIx	Phase_I	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	9	1131	+		Ovarian(120;0.128)	328			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Splice_Site	SNP	ENST00000367321.3	37	c.987_splice	CCDS5228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.008299|3.008299	0.54361|0.54361	.|.	.|.	ENSG00000120254|ENSG00000120254	ENST00000367321|ENST00000367308	T|.	0.12361|.	2.69|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.112203|.	0.64402|.	D|.	0.000007|.	T|T	0.60869|0.60869	0.2302|0.2302	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;B;B|.	0.13594|.	0.008;0.007;0.008|.	B;B;B|.	0.13407|.	0.009;0.009;0.009|.	T|T	0.57242|0.57242	-0.7845|-0.7845	10|5	0.62326|.	D|.	0.03|.	.|.	18.1087|18.1087	0.89528|0.89528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;83;328|.	B7ZM99;B2RD24;Q6UB35|.	.;.;C1TM_HUMAN|.	H|T	328|289	ENSP00000356290:Q328H|.	ENSP00000356290:Q328H|.	Q|R	+|+	3|2	2|0	MTHFD1L|MTHFD1L	151281497|151281497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	5.401000|5.401000	0.66326|0.66326	2.609000|2.609000	0.88269|0.88269	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.403	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	Missense_Mutation	4	114	0	0	0	1	0	4	114					C	151239804	G	C	151239804	5	2	256	1	0	0	0	0	0	0	1	0	9928	1014	35	4	1018	4	MTHFD1L	6	151239804	Splice_Site	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	78271006	151239804	19875263	12	4489											
PLG	5340	broad.mit.edu	37	6	161134119	161134119	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:161134119A>C	ENST00000308192.9	+	5	572	c.509A>C	c.(508-510)gAa>gCa	p.E170A	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	170	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTGATCCAGAAAAGAGATAT	0.463																																						uc003qtm.4																			0		p.P169R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(508-510)gAa>gCa		Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						148	144	146					6																	161134119		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134119A>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.509A>C	6.37:g.161134119A>C	ENSP00000308938:p.Glu170Ala		Somatic					p.E170A	NM_000301	NP_000292	WXS	Illumina GAIIx	Phase_I	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	4	621	+			170			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.509A>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.327384	0.01309	.	.	ENSG00000122194	ENST00000308192	T	0.66638	-0.22	5.11	1.19	0.21007	Kringle (4);Kringle-like fold (1);	0.657771	0.12294	U	0.481833	T	0.24431	0.0592	L	0.28694	0.88	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20706	-1.0267	10	0.17832	T	0.49	.	5.0286	0.14398	0.6221:0.1445:0.2334:0.0	.	170	P00747	PLMN_HUMAN	A	170	ENSP00000308938:E170A	ENSP00000308938:E170A	E	+	2	0	PLG	161054109	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.824000	0.27379	0.031000	0.15407	0.528000	0.53228	GAA		0.463	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	197	0	0	0	1	0	5	197					C	161134119	A	C	161134119	3	2	256	1	0	0	0	0	1	0	0	0	12086	246	9	5	531	5	PLG	6	161134119	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08	9894315	161134119	9980948	13	4490											
PFKP	5214	broad.mit.edu	37	10	3177999	3177999	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:3177999G>A	ENST00000381125.4	+	21	2270	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Missense_Mutation_p.V724M|PFKP_ENST00000381072.1_Missense_Mutation_p.V150M	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	732	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TTTTCAACCTGTGGCAGAGCT	0.398																																						uc001igp.3																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2194-2196)Gtg>Atg		Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.							78	77	77					10																	3177999		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3177999G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2194G>A	10.37:g.3177999G>A	ENSP00000370517:p.Val732Met		Somatic				PFKP_uc001igq.3_Missense_Mutation_p.V724M|PFKP_uc009xhr.3_Missense_Mutation_p.V694M|PFKP_uc009xht.3_Missense_Mutation_p.V470M|PFKP_uc009xhu.3_Missense_Mutation_p.V238M	p.V732M	NM_002627	NP_002618	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	20	2270	+			732					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2194G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	8.074	0.770979	0.15983	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80909	-1.43;-1.43;-1.43	4.92	4.01	0.46588	Phosphofructokinase domain (1);	0.061361	0.64402	D	0.000004	D	0.85729	0.5764	M	0.64170	1.965	0.58432	D	0.999992	D;D;D	0.63046	0.978;0.978;0.992	P;P;P	0.58620	0.833;0.833;0.842	D	0.86571	0.1847	10	0.56958	D	0.05	.	15.0356	0.71744	0.0:0.152:0.848:0.0	.	724;724;732	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	M	732;721;724;150	ENSP00000370517:V732M;ENSP00000370465:V724M;ENSP00000370462:V150M	ENSP00000370462:V150M	V	+	1	0	PFKP	3167999	1.000000	0.71417	0.708000	0.30435	0.424000	0.31475	4.233000	0.58651	1.052000	0.40392	0.462000	0.41574	GTG		0.398	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		4	68	0	0	0	1	0	4	68					A	3177999	G	A	3177999	3	1	256	1	0	0	0	0	1	0	0	0	11766	1377	48	2	2276	2	PFKP	10	3177999	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		3177999	132356748	14	4491											
TET1	80312	broad.mit.edu	37	10	70411612	70411612	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:70411612T>C	ENST00000373644.4	+	5	4495	c.4286T>C	c.(4285-4287)aTa>aCa	p.I1429T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1429					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATCGAGTTATACAAAAAGAC	0.428																																						uc001jok.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(4285-4287)aTa>aCa		Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.							124	132	129					10																	70411612		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70411612T>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4286T>C	10.37:g.70411612T>C	ENSP00000362748:p.Ile1429Thr		Somatic					p.I1429T	NM_030625	NP_085128	WXS	Illumina GAIIx	Phase_I	Q8NFU7	TET1_HUMAN			4	4791	+			1429					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4286T>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196304	0.58126	.	.	ENSG00000138336	ENST00000373644	T	0.43688	0.94	5.62	2.04	0.26737	TET cysteine-rich domain (1);	0.489617	0.19446	N	0.114069	T	0.25568	0.0622	N	0.24115	0.695	0.26835	N	0.968506	B	0.33103	0.397	B	0.31751	0.135	T	0.10800	-1.0614	10	0.33141	T	0.24	.	8.4162	0.32672	0.0:0.2285:0.0:0.7715	.	1429	Q8NFU7	TET1_HUMAN	T	1429	ENSP00000362748:I1429T	ENSP00000362748:I1429T	I	+	2	0	TET1	70081618	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	2.972000	0.49256	0.102000	0.17638	0.528000	0.53228	ATA		0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		7	131	0	0	0	1	0	7	131					C	70411612	T	C	70411612	3	2	256	1	0	0	0	0	1	0	0	0	15766	1406	49	3	4300	3	TET1	10	70411612	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	67233613	70411612	65123135	15	4492											
PLCE1	51196	broad.mit.edu	37	10	95849061	95849061	+	Intron	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:95849061C>T	ENST00000371380.3	+	2	1441				RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371375.1_Silent_p.F70F|PLCE1_ENST00000371385.3_Silent_p.F70F|PLCE1_ENST00000260766.3_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						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)				GTTGGCTCTTCCCGCTCTCTG	0.512																																						uc001kjm.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(208-210)ttC>ttT		Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 2, mRNA.							159	143	148					10																	95849061		1568	3582	5150	SO:0001627	intron_variant	51196				Ras protein signal transduction|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|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	g.chr10:95849061C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-42870C>T	10.37:g.95849061C>T			Somatic				PLCE1_uc001kjk.3_Intron|PLCE1_uc010qnx.2_Intron|BC035380_uc001kjl.1_Intron	p.F70F	NM_001165979	NP_001159451	WXS	Illumina GAIIx	Phase_I	Q9P212	PLCE1_HUMAN			0	232	+		Colorectal(252;0.0458)	0					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.210C>T	CCDS41552.1																																																																																				0.512	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		59	106	0	0	0	1	0	59	106					T	95849061	C	T	95849061	1	4	256	0	1	0	0	0	0	0	0	0	12034	854	30	2		2	PLCE1	10	95849061	Intron	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	25437449	95849061	39685686	16	4493											
ATP2A2	488	broad.mit.edu	37	12	110765417	110765417	+	Silent	SNP	C	C	T	rs143310856		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr12:110765417C>T	ENST00000539276.2	+	8	799	c.690C>T	c.(688-690)acC>acT	p.T230T	ATP2A2_ENST00000395494.2_Silent_p.T203T|ATP2A2_ENST00000308664.6_Silent_p.T230T			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	230					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTTAACACCGAAATTGGCA	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		20817	0		0	False		,,,				2504	0					uc001tqk.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(688-690)acC>acT		Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.							192	189	190					12																	110765417		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding	g.chr12:110765417C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.690C>T	12.37:g.110765417C>T			Somatic				ATP2A2_uc001tql.4_Silent_p.T230T|ATP2A2_uc021rdt.1_Silent_p.T78T	p.T230T	NM_170665	NP_733765	WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			7	1253	+			230					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.690C>T	CCDS9144.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.178	1.022761	0.19433	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.38	-7.11	0.01542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3355	0.00325	0.3721:0.1715:0.1807:0.2757	.	.	.	.	X	121	.	.	R	+	1	2	ATP2A2	109249800	0.216000	0.23585	0.883000	0.34634	0.994000	0.84299	-0.625000	0.05534	-1.462000	0.01907	-0.397000	0.06425	CGA		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		7	251	0	0	0	1	0	7	251					T	110765417	C	T	110765417	2	4	256	1	0	0	0	0	0	0	0	1	1137	639	23	1		1	ATP2A2	12	110765417	Silent	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		110765417	23086478	17	4494											
FRY	10129	broad.mit.edu	37	13	32835817	32835817	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr13:32835817G>A	ENST00000380250.3	+	52	7977	c.7481G>A	c.(7480-7482)tGt>tAt	p.C2494Y	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGATAAGTGTGATATGCAG	0.498																																						uc001utx.3																			0		p.C2494S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7480-7482)tGt>tAt		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							80	84	83					13																	32835817		2013	4178	6191	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32835817G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7481G>A	13.37:g.32835817G>A	ENSP00000369600:p.Cys2494Tyr		Somatic				FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.C19Y|FRY_uc010tdx.2_5'Flank	p.C2494Y	NM_023037	NP_075463	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	51	7977	+		Lung SC(185;0.0271)	2494					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.7481G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690930	0.68271	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.21734	1.99	5.68	5.68	0.88126	.	0.085025	0.85682	D	0.000000	T	0.23133	0.0559	N	0.22421	0.69	0.80722	D	1	D;P	0.57571	0.98;0.944	P;P	0.47299	0.543;0.492	T	0.01062	-1.1464	10	0.59425	D	0.04	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	275;2494	Q8NB82;Q5TBA9	.;FRY_HUMAN	Y	2494;138	ENSP00000369600:C2494Y	ENSP00000369567:C138Y	C	+	2	0	FRY	31733817	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.659000	0.68010	2.702000	0.92279	0.655000	0.94253	TGT		0.498	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		28	40	0	0	0	1	0	28	40					A	32835817	G	A	32835817	3	1	256	1	0	0	0	0	1	0	0	0	6063	1377	48	2	7687	2	FRY	13	32835817	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		32835817	82334061	18	4495											
ABCA3	21	broad.mit.edu	37	16	2331127	2331127	+	Silent	SNP	G	G	A	rs373102317		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr16:2331127G>A	ENST00000301732.5	-	28	4960	c.4260C>T	c.(4258-4260)gcC>gcT	p.A1420A	ABCA3_ENST00000382381.3_Silent_p.A1362A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1420	ABC transporter 2. {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)	TGGTCTTCCCGGCTCCATTGA	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		17725	0		0	False		,,,				2504	0					uc002cpy.1																			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.(4258-4260)gcC>gcT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.		G		0,4396		0,0,2198	103	95	98		4260	-11.5	0.1	16		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		1420/1705	2331127	1,12995	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.chr16:2331127G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4260C>T	16.37:g.2331127G>A			Somatic				ABCA3_uc010bsk.1_Silent_p.A1362A	p.A1420A	NM_001089	NP_001080	WXS	Illumina GAIIx	Phase_I	Q99758	ABCA3_HUMAN			27	4972	-		Ovarian(90;0.17)	1420			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4260C>T	CCDS10466.1																																																																																				0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		4	100	0	0	0	1	0	4	100					A	2331127	G	A	2331127	2	1	256	1	0	0	0	0	0	0	0	1	33	1103	39	1		1	ABCA3	16	2331127	Silent	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		2331127	88023626	19	4496											
GLP2R	9340	broad.mit.edu	37	17	9763385	9763385	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:9763385C>T	ENST00000262441.5	+	7	1405	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	GLP2R_ENST00000574745.1_Missense_Mutation_p.R118W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	298					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCCTGAGAGGCGGCTGTGGCC	0.542																																						uc002gmd.1																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(892-894)Cgg>Tgg		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)						56	55	55					17																	9763385		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9763385C>T	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.892C>T	17.37:g.9763385C>T	ENSP00000262441:p.Arg298Trp		Somatic					p.R298W	NM_004246	NP_004237	WXS	Illumina GAIIx	Phase_I	O95838	GLP2R_HUMAN			6	892	+			298					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.892C>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533848	0.13188	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.42900	0.96	5.34	0.67	0.17923	GPCR, family 2-like (1);	0.238863	0.21970	N	0.066475	T	0.43144	0.1234	M	0.86651	2.83	0.09310	N	1	P	0.46859	0.885	B	0.43809	0.432	T	0.44667	-0.9313	10	0.56958	D	0.05	.	1.6514	0.02773	0.1389:0.4599:0.135:0.2663	.	298	O95838	GLP2R_HUMAN	W	298;273;298	ENSP00000262441:R298W	ENSP00000262441:R298W	R	+	1	2	GLP2R	9704110	0.001000	0.12720	0.787000	0.31911	0.322000	0.28314	-0.354000	0.07681	-0.026000	0.13895	-0.136000	0.14681	CGG		0.542	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			10	23	0	0	0	1	0	10	23					T	9763385	C	T	9763385	3	4	256	1	0	0	0	0	1	0	0	0	6453	759	27	1	918	1	GLP2R	17	9763385	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		9763385	71431825	20	4497											
EZH1	2145	broad.mit.edu	37	17	40857116	40857116	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:40857116T>A	ENST00000428826.2	-	17	2046	c.1925A>T	c.(1924-1926)tAc>tTc	p.Y642F	EZH1_ENST00000592743.1_Missense_Mutation_p.Y642F|EZH1_ENST00000415827.2_Missense_Mutation_p.Y633F|EZH1_ENST00000435174.1_Missense_Mutation_p.Y503F|EZH1_ENST00000585893.1_Missense_Mutation_p.Y602F|EZH1_ENST00000590078.1_Missense_Mutation_p.Y572F|EZH1_ENST00000590783.1_5'UTR			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	642	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTCACCACAGTATTCAGAAAT	0.507																																						uc010wgu.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1942-1944)tAc>tTc		Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.							89	85	86					17																	40857116		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	g.chr17:40857116T>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1925A>T	17.37:g.40857116T>A	ENSP00000404658:p.Tyr642Phe		Somatic				EZH1_uc002iaz.3_Missense_Mutation_p.Y642F|EZH1_uc002iba.3_Missense_Mutation_p.Y633F|EZH1_uc010wgt.2_Missense_Mutation_p.Y572F|EZH1_uc010wgv.2_Missense_Mutation_p.Y602F|EZH1_uc010wgw.2_Missense_Mutation_p.Y503F|EZH1_uc010cyp.2_Missense_Mutation_p.Y543F|EZH1_uc010cyq.2_Missense_Mutation_p.Y559F|EZH1_uc010cyo.1_Missense_Mutation_p.Y305F	p.Y648F	NM_001991	NP_001982	WXS	Illumina GAIIx	Phase_I	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	15	1979	-		Breast(137;0.00104)	642			SET.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1943A>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.938478	0.92526	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.84800	-1.9;-1.9	5.41	5.41	0.78517	SET domain (3);	0.114193	0.64402	D	0.000007	D	0.94122	0.8115	M	0.93898	3.47	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.998;0.998	D;D;D;D;D	0.75020	0.959;0.974;0.974;0.974;0.985	D	0.95511	0.8586	10	0.87932	D	0	.	15.5994	0.76613	0.0:0.0:0.0:1.0	.	503;602;648;572;642	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	F	645;642;602;503	ENSP00000404658:Y642F;ENSP00000404071:Y503F	ENSP00000264646:Y645F	Y	-	2	0	EZH1	38110642	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	7.864000	0.87037	2.261000	0.74972	0.460000	0.39030	TAC		0.507	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		26	64	0	0	0	1	0	26	64					A	40857116	T	A	40857116	3	1	256	1	0	0	0	0	1	0	0	0	5333	1638	57	5	338	5	EZH1	17	40857116	Missense_Mutation	SNP	T	TCGA-EM-A2OV-01A-11D-A202-08	31093731	40857116	40338094	21	4498											
THOC1	9984	broad.mit.edu	37	18	265318	265318	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr18:265318A>C	ENST00000261600.6	-	3	181	c.174T>G	c.(172-174)atT>atG	p.I58M	THOC1_ENST00000582313.1_5'UTR|RP11-705O1.8_ENST00000581677.1_lincRNA	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	58					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTCTTCTAGAATACCTCTGA	0.269																																						uc002kkj.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(172-174)atT>atG		Homo sapiens THO complex 1 (THOC1), mRNA.							43	41	42					18																	265318		1790	4061	5851	SO:0001583	missense	9984				RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	g.chr18:265318A>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.174T>G	18.37:g.265318A>C	ENSP00000261600:p.Ile58Met		Somatic				THOC1_uc002kkl.2_Missense_Mutation_p.I58M	p.I58M	NM_005131	NP_005122	WXS	Illumina GAIIx	Phase_I	Q96FV9	THOC1_HUMAN			2	214	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	58					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.174T>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	A	7.914	0.737225	0.15574	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.93	0.82	0.18793	.	0.187185	0.45867	D	0.000327	T	0.16599	0.0399	N	0.08118	0	0.21147	N	0.999774	B;B	0.23806	0.091;0.022	B;B	0.28232	0.087;0.027	T	0.15150	-1.0447	9	0.40728	T	0.16	-6.9234	5.4798	0.16717	0.6211:0.0:0.2629:0.116	.	58;58	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	M	58	.	ENSP00000261600:I58M	I	-	3	3	THOC1	255318	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.131000	0.50515	-0.079000	0.12707	-1.617000	0.00794	ATT		0.269	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	14	0	0	0	1	0	7	14					C	265318	A	C	265318	3	2	256	1	0	0	0	0	1	0	0	0	15861	242	9	5	1875	5	THOC1	18	265318	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		265318	77811930	22	4499											
ZNF234	10780	broad.mit.edu	37	19	44661248	44661248	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr19:44661248A>G	ENST00000426739.2	+	6	1337	c.1079A>G	c.(1078-1080)cAg>cGg	p.Q360R	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q360R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q360R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCACAATTTCAGGCCCATCGG	0.443																																						uc002oym.3																			1	Substitution - Missense(1)	p.Q360R(2)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1078-1080)cAg>cGg		Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.							58	62	61					19																	44661248		2136	4273	6409	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661248A>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1079A>G	19.37:g.44661248A>G	ENSP00000400878:p.Gln360Arg		Somatic				ZNF234_uc002oyl.4_Missense_Mutation_p.Q360R	p.Q360R	NM_006630	NP_006621	WXS	Illumina GAIIx	Phase_I	Q14588	ZN234_HUMAN			5	1386	+		Prostate(69;0.0435)	360					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.1079A>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	A	4.181	0.032106	0.08101	.	.	ENSG00000167380	ENST00000426739	T	0.11930	2.73	4.12	-0.786	0.10946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.04148	-0.265	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.41305	-0.9516	9	0.25751	T	0.34	.	0.0834	0.00033	0.2898:0.2494:0.1907:0.2701	.	360	Q14588	ZN234_HUMAN	R	360	ENSP00000400878:Q360R	ENSP00000400878:Q360R	Q	+	2	0	ZNF226	49353088	0.000000	0.05858	0.001000	0.08648	0.750000	0.42670	-3.103000	0.00603	-0.033000	0.13736	0.482000	0.46254	CAG		0.443	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			3	39	0	0	0	1	0	3	39					G	44661248	A	G	44661248	3	3	256	1	0	0	0	0	1	0	0	0	17784	188	7	3	1093	3	ZNF234	19	44661248	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08		44661248	14467735	23	4500											
TM9SF4	9777	broad.mit.edu	37	20	30745657	30745657	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:30745657G>A	ENST00000398022.2	+	14	1625	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	TM9SF4_ENST00000217315.5_Missense_Mutation_p.V447I	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	464						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGCCCCTCGTCTACTTGGG	0.602																																						uc002wxj.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1390-1392)Gtc>Atc		Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.							175	162	166					20																	30745657		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745657G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1390G>A	20.37:g.30745657G>A	ENSP00000381104:p.Val464Ile		Somatic				TM9SF4_uc010zts.1_Missense_Mutation_p.V371I|TM9SF4_uc002wxk.2_Missense_Mutation_p.V447I	p.V464I	NM_014742	NP_055557	WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1625	+			464					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1390G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844123	0.91197	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44881	0.91;0.91	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.52905	1.665	0.80722	D	1	P;P	0.51933	0.949;0.887	P;P	0.50791	0.65;0.591	T	0.51100	-0.8748	10	0.46703	T	0.11	-31.5818	18.4218	0.90594	0.0:0.0:1.0:0.0	.	371;464	B4DH88;Q92544	.;TM9S4_HUMAN	I	464;447	ENSP00000381104:V464I;ENSP00000217315:V447I	ENSP00000217315:V447I	V	+	1	0	TM9SF4	30209318	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	5.441000	0.66569	2.572000	0.86782	0.655000	0.94253	GTC		0.602	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		67	132	0	0	0	1	0	67	132					A	30745657	G	A	30745657	3	1	256	1	0	0	0	0	1	0	0	0	15977	1145	40	1	1444	1	TM9SF4	20	30745657	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08		30745657	32279863	24	4501											
PARD6B	84612	broad.mit.edu	37	20	49366339	49366339	+	Missense_Mutation	SNP	A	A	T	rs538014525		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:49366339A>T	ENST00000371610.2	+	3	676	c.433A>T	c.(433-435)Att>Ttt	p.I145F	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	145	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGTGTCTTCTATTATAGACGT	0.438																																						uc002xvo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(433-435)Att>Ttt		Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.							71	70	70					20																	49366339		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366339A>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.433A>T	20.37:g.49366339A>T	ENSP00000360672:p.Ile145Phe		Somatic					p.I145F	NM_032521	NP_115910	WXS	Illumina GAIIx	Phase_I	Q9BYG5	PAR6B_HUMAN			2	676	+			145			Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.433A>T	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908985	0.92107	.	.	ENSG00000124171	ENST00000371610	T	0.42900	0.96	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.045268	0.85682	D	0.000000	T	0.68924	0.3054	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.72855	-0.4166	10	0.54805	T	0.06	-31.7888	16.5446	0.84426	1.0:0.0:0.0:0.0	.	145	Q9BYG5	PAR6B_HUMAN	F	145	ENSP00000360672:I145F	ENSP00000360672:I145F	I	+	1	0	PARD6B	48799746	1.000000	0.71417	0.631000	0.29282	0.886000	0.51366	8.875000	0.92372	2.311000	0.77944	0.533000	0.62120	ATT		0.438	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		27	46	0	0	0	1	0	27	46					T	49366339	A	T	49366339	3	4	256	1	0	0	0	0	1	0	0	0	11446	449	16	5	443	5	PARD6B	20	49366339	Missense_Mutation	SNP	A	TCGA-EM-A2OV-01A-11D-A202-08	18620682	49366339	13659181	25	4502											
SPIN4	139886	broad.mit.edu	37	X	62570519	62570519	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:62570519C>A	ENST00000335144.3	-	1	699	c.180G>T	c.(178-180)aaG>aaT	p.K60N	SPIN4_ENST00000374884.2_Missense_Mutation_p.K42N|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	60					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GCACAGTACCCTTCCACTGCT	0.522																																						uc004dvf.3																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(178-180)aaG>aaT		Homo sapiens spindlin family, member 4 (SPIN4), mRNA.							47	46	47					X																	62570519		2060	4170	6230	SO:0001583	missense	139886				gamete generation			g.chrX:62570519C>A	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.180G>T	X.37:g.62570519C>A	ENSP00000334163:p.Lys60Asn		Somatic					p.K60N	NM_001012968	NP_001012986	WXS	Illumina GAIIx	Phase_I	Q56A73	SPIN4_HUMAN			0	700	-			60					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.180G>T	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	.	16.20	3.056450	0.55325	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.49139	0.79;0.79	3.9	1.13	0.20643	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.73962	2.25	0.47778	D	0.99951	P	0.50066	0.931	P	0.50352	0.638	T	0.47420	-0.9119	10	0.52906	T	0.07	-21.5786	6.1669	0.20396	0.0:0.5264:0.0:0.4736	.	60	Q56A73	SPIN4_HUMAN	N	42;60	ENSP00000364018:K42N;ENSP00000334163:K60N	ENSP00000334163:K60N	K	-	3	2	SPIN4	62487244	0.604000	0.26932	0.990000	0.47175	0.909000	0.53808	0.013000	0.13310	0.104000	0.17725	0.422000	0.28245	AAG		0.522	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		3	20	0	0	0	1	0	3	20					A	62570519	C	A	62570519	3	1	256	1	0	0	0	0	1	0	0	0	15055	680	24	4	573	4	SPIN4	23	62570519	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08		62570519	92700041	26	4503											
CXorf61	203413	broad.mit.edu	37	X	115592946	115592946	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:115592946C>T	ENST00000371894.4	-	2	450	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		102						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						CCTCTGAAACCCTTGCTAAGT	0.423																																						uc004eqj.1																			0				breast(1)|large_intestine(3)|lung(8)	12						c.(304-306)Ggt>Agt		Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.							177	148	158					X																	115592946		2203	4300	6503	SO:0001583	missense	203413					integral to membrane|plasma membrane		g.chrX:115592946C>T																												ENST00000371894.4:c.304G>A	X.37:g.115592946C>T	ENSP00000360961:p.Gly102Ser		Somatic					p.G102S	NM_001017978	NP_001017978	WXS	Illumina GAIIx	Phase_I	Q5H943	KKLC1_HUMAN			1	424	-			102						Missense_Mutation	SNP	ENST00000371894.4	37	c.304G>A	CCDS35372.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950881	0.53186	.	.	ENSG00000204019	ENST00000371894	.	.	.	5.2	2.41	0.29592	.	1.038250	0.07679	N	0.936756	T	0.28001	0.0690	L	0.27053	0.805	0.09310	N	1	P	0.41102	0.738	B	0.42593	0.392	T	0.19549	-1.0302	9	0.51188	T	0.08	0.1608	4.7947	0.13267	0.0:0.6226:0.1752:0.2022	.	102	Q5H943	KKLC1_HUMAN	S	102	.	ENSP00000360961:G102S	G	-	1	0	CXorf61	115506974	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.044000	0.13992	0.572000	0.29383	0.534000	0.68092	GGT		0.423	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			4	190	0	0	0	1	0	4	190					T	115592946	C	T	115592946	3	4	256	1	0	0	0	0	1	0	0	0	4116	623	22	2	41	2	CXorf61	23	115592946	Missense_Mutation	SNP	C	TCGA-EM-A2OV-01A-11D-A202-08	53022427	115592946	39677614	27	4504											
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	A	rs11575982	byFrequency	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:135741330G>A	ENST00000370629.2	+	5	598	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.R160Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	181					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.R181L(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TGTTCCAATCGGGAAGCTTCG	0.463									Immune Deficiency with Hyper-IgM				G|||	22	0.00582781	0	0	3775	,	,		14855	0.002		0	False		,,,				2504	0.0204					uc004faa.3																			2	Substitution - Missense(2)	p.R181L(4)	lung(2)	endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(541-543)cGg>cAg		Homo sapiens CD40 ligand (CD40LG), mRNA.	Atorvastatin(DB01076)						223	225	224					X																	135741330		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741330G>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.542G>A	X.37:g.135741330G>A	ENSP00000359663:p.Arg181Gln		Somatic				CD40LG_uc010nsd.3_Missense_Mutation_p.R160Q	p.R181Q	NM_000074	NP_000065	WXS	Illumina GAIIx	Phase_I	P29965	CD40L_HUMAN			4	614	+	Acute lymphoblastic leukemia(192;0.000127)		181						Missense_Mutation	SNP	ENST00000370629.2	37	c.542G>A	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475335	0.26511	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94417	-3.42;-3.42	5.56	1.87	0.25490	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.925106	0.09375	N	0.810810	D	0.90655	0.7069	L	0.54323	1.7	0.09310	N	1	B;B	0.25235	0.057;0.121	B;B	0.12156	0.003;0.007	T	0.80388	-0.1403	10	0.45353	T	0.12	-10.9118	4.8672	0.13615	0.5007:0.1578:0.3414:0.0	.	160;181	Q3L8U2;P29965	.;CD40L_HUMAN	Q	181;160	ENSP00000359663:R181Q;ENSP00000359662:R160Q	ENSP00000359662:R160Q	R	+	2	0	CD40LG	135568996	0.000000	0.05858	0.218000	0.23776	0.915000	0.54546	-0.401000	0.07232	0.182000	0.20032	0.600000	0.82982	CGG		0.463	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		166	306	0	0	0	1	0	166	306					A	135741330	G	A	135741330	3	1	256	1	0	0	0	0	1	0	0	0	3016	1116	39	1	560	1	CD40LG	23	135741330	Missense_Mutation	SNP	G	TCGA-EM-A2OV-01A-11D-A202-08	20148384	135741330	19529230	28	4505											
IL23R	149233	broad.mit.edu	37	1	67705965	67705965	+	Splice_Site	SNP	G	G	A			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr1:67705965G>A	ENST00000347310.5	+	9	1319		c.e9+1		AL109843.1_ENST00000408806.1_RNA|IL23R_ENST00000395227.1_Splice_Site|IL23R_ENST00000371002.1_Intron|IL23R_ENST00000473881.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCGAACTGGGTAGGTTTTTG	0.323																																						uc001ddo.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e9+1		Homo sapiens interleukin 23 receptor (IL23R), mRNA.							149	132	138					1																	67705965		2203	4299	6502	SO:0001630	splice_region_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67705965G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1148+1G>A	1.37:g.67705965G>A			Somatic				IL23R_uc009waz.3_Splice_Site_p.G180_splice|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.2_Intron|IL23R_uc010opj.2_Intron|IL23R_uc010opk.2_Intron|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Splice_Site|IL23R_uc001ddq.3_Splice_Site_p.G129_splice|IL23R_uc010opn.2_Splice_Site_p.G228_splice|IL23R_uc001ddr.3_Intron|IL23R_uc010opo.1_Splice_Site_p.G242_splice|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Splice_Site_p.G212_splice|IL23R_uc010opr.1_Splice_Site|IL23R_uc010oqh.2_Splice_Site_p.G24_splice|IL23R_uc010oqf.2_Splice_Site|IL23R_uc010ops.2_Splice_Site_p.G180_splice|IL23R_uc010opt.2_Splice_Site_p.G24_splice|IL23R_uc010opu.2_Splice_Site_p.G79_splice|IL23R_uc010opv.2_Splice_Site_p.G141_splice|IL23R_uc010opw.2_Intron|IL23R_uc010opx.2_Splice_Site_p.G24_splice|IL23R_uc010opy.2_Splice_Site_p.G150_splice|IL23R_uc010opz.2_Splice_Site_p.G24_splice|IL23R_uc010oqa.2_Splice_Site_p.G24_splice|IL23R_uc010oqb.2_Splice_Site_p.G212_splice|IL23R_uc010oqc.2_Splice_Site_p.G99_splice|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_Intron|IL23R_uc010oqg.2_Intron|IL23R_uc001dds.3_Splice_Site_p.G128_splice|IL23R_uc001ddt.3_Intron	p.G383_splice	NM_144701	NP_653302	WXS	Illumina GAIIx	Phase_I	Q5VWK5	IL23R_HUMAN			9	1233	+			383					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Splice_Site	SNP	ENST00000347310.5	37	c.1148_splice	CCDS637.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202836	0.58234	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000425614;ENST00000395227	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4119	0.67119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL23R	67478553	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.175000	0.58263	2.865000	0.98341	0.655000	0.94253	.		0.323	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	Intron	4	38	0	0	0	1	0	4	38					A	67705965	G	A	67705965	5	1	257	1	0	0	0	0	0	0	1	0	7676	1275	44	2	1179	2	IL23R	1	67705965	Splice_Site	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		67705965	181544656	1	4506											
PLEK	5341	broad.mit.edu	37	2	68608012	68608012	+	Missense_Mutation	SNP	G	G	A	rs144599110		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr2:68608012G>A	ENST00000234313.7	+	3	535	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	119					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGTCCATTCGACTGCCAGAA	0.458																																						uc002sen.4																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(355-357)cGa>cAa		Homo sapiens pleckstrin (PLEK), mRNA.		G	GLN/ARG	0,4406		0,0,2203	138	130	133		356	5.8	1.0	2	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEK	NM_002664.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	119/351	68608012	1,13005	2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68608012G>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.356G>A	2.37:g.68608012G>A	ENSP00000234313:p.Arg119Gln		Somatic				PLEK_uc010fde.3_Missense_Mutation_p.R119Q	p.R119Q	NM_002664	NP_002655	WXS	Illumina GAIIx	Phase_I	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	2	518	+		Ovarian(717;0.0129)	119					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.356G>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799472	0.70567	0.0	1.16E-4	ENSG00000115956	ENST00000234313	T	0.20332	2.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	L	0.59436	1.845	0.80722	D	1	D;D	0.56287	0.975;0.975	B;B	0.40506	0.331;0.331	T	0.01748	-1.1282	10	0.31617	T	0.26	.	14.2444	0.65978	0.071:0.0:0.929:0.0	.	137;119	Q59GZ2;P08567	.;PLEK_HUMAN	Q	119	ENSP00000234313:R119Q	ENSP00000234313:R119Q	R	+	2	0	PLEK	68461516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.462000	0.66707	2.750000	0.94351	0.655000	0.94253	CGA		0.458	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		6	237	0	0	0	1	0	6	237					A	68608012	G	A	68608012	3	1	257	1	0	0	0	0	1	0	0	0	12053	1058	37	1	366	1	PLEK	2	68608012	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		68608012	174591361	2	4507											
STAT4	6775	broad.mit.edu	37	2	191900911	191900911	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr2:191900911T>A	ENST00000392320.2	-	17	1863	c.1549A>T	c.(1549-1551)Atg>Ttg	p.M517L	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.M517L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	517					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCTGCCAGCATATGGAGTTGA	0.458																																						uc002usm.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1549-1551)Atg>Ttg		Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.							106	93	98					2																	191900911		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191900911T>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1549A>T	2.37:g.191900911T>A	ENSP00000376134:p.Met517Leu		Somatic				STAT4_uc002usn.2_Missense_Mutation_p.M517L|STAT4_uc010zgk.1_Missense_Mutation_p.M362L|STAT4_uc002uso.2_Missense_Mutation_p.M517L	p.M517L	NM_003151	NP_003142	WXS	Illumina GAIIx	Phase_I	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		16	1864	-			517					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1549A>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	34	5.327029	0.95708	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.86865	-2.18;-2.18	5.83	5.83	0.93111	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.036537	0.85682	D	0.000000	D	0.90079	0.6901	M	0.79805	2.47	0.80722	D	1	P;P;P	0.46020	0.871;0.871;0.871	B;B;P	0.46275	0.423;0.423;0.51	D	0.91386	0.5131	10	0.72032	D	0.01	-23.62	16.2005	0.82071	0.0:0.0:0.0:1.0	.	426;517;517	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	L	517	ENSP00000351255:M517L;ENSP00000376134:M517L	ENSP00000351255:M517L	M	-	1	0	STAT4	191609156	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	8.040000	0.89188	2.227000	0.72691	0.528000	0.53228	ATG		0.458	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		6	81	0	0	0	1	0	6	81					A	191900911	T	A	191900911	3	1	257	1	0	0	0	0	1	0	0	0	15266	1406	49	5	729	5	STAT4	2	191900911	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08	123292899	191900911	51298462	3	4508											
CXXC4	80319	broad.mit.edu	37	4	105412390	105412390	+	Silent	SNP	C	C	T			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr4:105412390C>T	ENST00000426831.1	-	1	77	c.63G>A	c.(61-63)ttG>ttA	p.L21L	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_Silent_p.L190L|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	21					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTGCCATTTGCAACGACGGCT	0.617																																						uc003hxg.3																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(61-63)ttG>ttA		Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.							106	119	115					4																	105412390		2203	4300	6503	SO:0001819	synonymous_variant	80319				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412390C>T		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.63G>A	4.37:g.105412390C>T			Somatic				AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	p.L21L	NM_025212	NP_079488	WXS	Illumina GAIIx	Phase_I	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	0	78	-			21						Silent	SNP	ENST00000426831.1	37	c.63G>A																																																																																					0.617	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		16	306	0	0	0	1	0	16	306					T	105412390	C	T	105412390	2	4	257	1	0	0	0	0	0	0	0	1	4098	709	25	2		2	CXXC4	4	105412390	Silent	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08		105412390	85741886	4	4509											
PEX1	5189	broad.mit.edu	37	7	92120650	92120650	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr7:92120650A>G	ENST00000248633.4	-	21	3469	c.3374T>C	c.(3373-3375)aTg>aCg	p.M1125T	AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.M803T|PEX1_ENST00000428214.1_Missense_Mutation_p.M1068T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1125					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAGCCGGTACATATTGAATTT	0.408																																						uc003uly.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3373-3375)aTg>aCg		Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.							133	136	135					7																	92120650		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92120650A>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3374T>C	7.37:g.92120650A>G	ENSP00000248633:p.Met1125Thr		Somatic				PEX1_uc011khr.2_Missense_Mutation_p.M917T|PEX1_uc010ley.3_Missense_Mutation_p.M1068T|PEX1_uc011khs.2_Missense_Mutation_p.M803T	p.M1125T	NM_000466	NP_000457	WXS	Illumina GAIIx	Phase_I	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		20	3470	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1125					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3374T>C	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094503	0.56075	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94497	-3.38;-3.44;-3.43	5.4	5.4	0.78164	.	0.233626	0.52532	D	0.000068	D	0.90848	0.7125	L	0.43152	1.355	0.80722	D	1	P;B;B	0.36465	0.554;0.181;0.181	B;B;B	0.30029	0.11;0.075;0.075	D	0.90574	0.4524	10	0.44086	T	0.13	-9.0938	15.7033	0.77558	1.0:0.0:0.0:0.0	.	803;917;1125	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	T	803;1125;1068	ENSP00000410438:M803T;ENSP00000248633:M1125T;ENSP00000394413:M1068T	ENSP00000248633:M1125T	M	-	2	0	PEX1	91958586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.678000	0.91211	2.182000	0.69389	0.402000	0.26972	ATG		0.408	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		3	116	0	0	0	1	0	3	116					G	92120650	A	G	92120650	3	3	257	1	0	0	0	0	1	0	0	0	11735	217	8	3	493	3	PEX1	7	92120650	Missense_Mutation	SNP	A	TCGA-EM-A2OW-01A-11D-A202-08		92120650	67018013	5	4510											
DLC1	10395	broad.mit.edu	37	8	12948874	12948874	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr8:12948874T>A	ENST00000276297.4	-	14	4217	c.3808A>T	c.(3808-3810)Act>Tct	p.T1270S	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.T833S|DLC1_ENST00000512044.2_Missense_Mutation_p.T867S|DLC1_ENST00000520226.1_Missense_Mutation_p.T759S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1270	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGCCCTTGAGTGGCAGCTAGG	0.423																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3808-3810)Act>Tct		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							107	114	112					8																	12948874		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12948874T>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3808A>T	8.37:g.12948874T>A	ENSP00000276297:p.Thr1270Ser		Somatic				DLC1_uc003wwk.1_Missense_Mutation_p.T833S|DLC1_uc003wwl.1_Missense_Mutation_p.T867S|DLC1_uc011kxx.1_Missense_Mutation_p.T759S	p.T1270S	NM_182643	NP_872584	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			13	4252	-			1270			Rho-GAP.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3808A>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815265	0.90790	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.66	4.66	0.58398	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.71581	2.175	0.80722	D	1	B;P;D	0.63046	0.277;0.897;0.992	B;P;D	0.71184	0.327;0.488;0.972	T	0.64812	-0.6319	10	0.51188	T	0.08	.	14.6308	0.68655	0.0:0.0:0.0:1.0	.	1270;867;833	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	1270;833;209;867;759	ENSP00000276297:T1270S;ENSP00000351797:T833S;ENSP00000422595:T867S;ENSP00000428028:T759S	ENSP00000276297:T1270S	T	-	1	0	DLC1	12993245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.131000	0.71670	2.113000	0.64589	0.529000	0.55759	ACT		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		30	81	0	0	0	1	0	30	81					A	12948874	T	A	12948874	3	1	257	1	0	0	0	0	1	0	0	0	4550	1696	59	5	798	5	DLC1	8	12948874	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		12948874	133415148	6	4511											
ASTN2	23245	broad.mit.edu	37	9	119770423	119770423	+	Silent	SNP	G	G	A			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr9:119770423G>A	ENST00000313400.4	-	7	1639	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L462L|ASTN2_ENST00000373996.3_Silent_p.L513L			O75129	ASTN2_HUMAN	astrotactin 2	513	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGTCCACAGAGGTCCCTCA	0.582																																						uc004bjt.2																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1384-1386)ctC>ctT		Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.							97	88	91					9																	119770423		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119770423G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1539C>T	9.37:g.119770423G>A			Somatic				ASTN2_uc022bml.1_Silent_p.L162L|ASTN2_uc022bmm.1_Silent_p.L162L	p.L462L	NM_014010	NP_054729	WXS	Illumina GAIIx	Phase_I	O75129	ASTN2_HUMAN			5	1487	-			513					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1386C>T																																																																																					0.582	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		10	77	0	0	0	1	0	10	77					A	119770423	G	A	119770423	2	1	257	1	0	0	0	0	0	0	0	1	1065	929	33	2		2	ASTN2	9	119770423	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		119770423	21443008	7	4512											
OR4C11	219429	broad.mit.edu	37	11	55371142	55371142	+	Silent	SNP	G	G	A	rs146621611	byFrequency	TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr11:55371142G>A	ENST00000302231.4	-	1	732	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACGTGCAAGCGGAGAGAGCCT	0.413													-|||	19	0.00379393	0.0144	0	5008	,	,		14931	0		0	False		,,,				2504	0					uc010rii.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(706-708)tcC>tcT		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.		-		60,4296		4,52,2122	74	64	67		708	-7.2	0.0	11	dbSNP_134	67	0,8006		0,0,4003	no	coding-synonymous	OR4C11	NM_001004700.2		4,52,6125	AA,AG,GG		0.0,1.3774,0.4854		236/311	55371142	60,12302	2178	4003	6181	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371142G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.708C>T	11.37:g.55371142G>A			Somatic					p.S236S	NM_001004700	NP_001004700	WXS	Illumina GAIIx	Phase_I	Q6IEV9	OR4CB_HUMAN			0	733	-			236					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.708C>T	CCDS31503.1																																																																																				0.413	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		4	113	0	0	0	1	0	4	113					A	55371142	G	A	55371142	2	1	257	1	0	0	0	0	0	0	0	1	11045	1103	39	1		1	OR4C11	11	55371142	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		55371142	79635374	8	4513											
PZP	5858	broad.mit.edu	37	12	9355129	9355129	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr12:9355129C>T	ENST00000261336.2	-	3	447	c.419G>A	c.(418-420)gGa>gAa	p.G140E	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	140					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACCTGTCTGTCCTGGTTTATA	0.498																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(418-420)gGa>gAa		Homo sapiens pregnancy-zone protein (PZP), mRNA.							146	141	143					12																	9355129		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9355129C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.419G>A	12.37:g.9355129C>T	ENSP00000261336:p.Gly140Glu		Somatic				PZP_uc009zgl.3_5'UTR	p.G140E	NM_002864	NP_002855	WXS	Illumina GAIIx	Phase_I					2	448	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.419G>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	3.367	-0.129275	0.06753	.	.	ENSG00000126838	ENST00000261336	D	0.81821	-1.54	2.3	0.357	0.16079	Alpha-2-macroglobulin, N-terminal (1);	0.386473	0.20643	N	0.088377	D	0.83308	0.5226	M	0.83223	2.63	0.45076	D	0.99809	P	0.35944	0.529	P	0.46585	0.521	T	0.79401	-0.1819	10	0.66056	D	0.02	.	7.176	0.25744	0.0:0.7217:0.0:0.2783	.	140	P20742	PZP_HUMAN	E	140	ENSP00000261336:G140E	ENSP00000261336:G140E	G	-	2	0	PZP	9246396	0.976000	0.34144	0.737000	0.30932	0.036000	0.12997	0.147000	0.16202	-0.172000	0.10779	-1.842000	0.00583	GGA		0.498	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		7	163	0	0	0	1	0	7	163					T	9355129	C	T	9355129	3	4	257	1	0	0	0	0	1	0	0	0	12869	855	30	2	4165	2	PZP	12	9355129	Missense_Mutation	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08		9355129	124496766	9	4514											
PDZRN4	29951	broad.mit.edu	37	12	41966431	41966431	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr12:41966431T>C	ENST00000402685.2	+	10	1858	c.1850T>C	c.(1849-1851)aTt>aCt	p.I617T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.I359T|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I357T	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	617							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCAGACTGCATTGGCAACCCA	0.473																																						uc010skn.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1849-1851)aTt>aCt		Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.							87	87	87					12																	41966431		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966431T>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1850T>C	12.37:g.41966431T>C	ENSP00000384197:p.Ile617Thr		Somatic				PDZRN4_uc001rmq.4_Missense_Mutation_p.I359T|PDZRN4_uc009zjz.3_Missense_Mutation_p.I357T|PDZRN4_uc001rmr.3_Missense_Mutation_p.I244T	p.I617T	NM_001164595	NP_001158067	WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			9	1858	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	617					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1850T>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	T	0.331	-0.955891	0.02267	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.71817	-0.6;3.85;3.84	4.08	-6.74	0.01743	.	1.547480	0.04225	N	0.334178	T	0.61837	0.2379	L	0.34521	1.04	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.50874	-0.8776	10	0.51188	T	0.08	2.7839	17.7752	0.88505	0.0:0.1025:0.0:0.8975	.	617;357;359	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	T	617;359;357	ENSP00000384197:I617T;ENSP00000439990:I359T;ENSP00000298919:I357T	ENSP00000298919:I357T	I	+	2	0	PDZRN4	40252698	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	-0.153000	0.10144	-1.548000	0.01712	-0.248000	0.11899	ATT		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		20	60	0	0	0	1	0	20	60					C	41966431	T	C	41966431	3	2	257	1	0	0	0	0	1	0	0	0	11710	1493	52	3	1961	3	PDZRN4	12	41966431	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08	32611302	41966431	91885464	10	4515											
FAM155A	728215	broad.mit.edu	37	13	108518546	108518546	+	Silent	SNP	G	G	C			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr13:108518546G>C	ENST00000375915.2	-	1	537	c.399C>G	c.(397-399)ccC>ccG	p.P133P		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	133						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCCGGGGAGGGGGGCAGGG	0.721																																						uc001vql.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(397-399)ccC>ccG		Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.							6	9	8					13																	108518546		1508	3409	4917	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518546G>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.399C>G	13.37:g.108518546G>C			Somatic					p.P133P	NM_001080396	NP_001073865	WXS	Illumina GAIIx	Phase_I	B1AL88	F155A_HUMAN			0	915	-			133					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.399C>G	CCDS32006.1																																																																																				0.721	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		8	20	0	0	0	1	0	8	20					C	108518546	G	C	108518546	2	2	257	1	0	0	0	0	0	0	0	1	5465	987	35	4		4	FAM155A	13	108518546	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		108518546	6651332	11	4516											
TSHR	7253	broad.mit.edu	37	14	81609760	81609760	+	Missense_Mutation	SNP	T	T	C	rs121908864		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr14:81609760T>C	ENST00000541158.2	+	11	1680	c.1358T>C	c.(1357-1359)aTg>aCg	p.M453T	TSHR_ENST00000298171.2_Missense_Mutation_p.M453T|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	453			M -> T (in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas). {ECO:0000269|PubMed:11434721, ECO:0000269|PubMed:12213664, ECO:0000269|PubMed:8964822, ECO:0000269|PubMed:9253356}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.M453T(28)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGCTTTCTCATGTGCAACCTG	0.527			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		28	Substitution - Missense(28)	p.M453T(62)	thyroid(28)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337	GRCh37	CM981962	TSHR	M	rs121908864	c.(1357-1359)aTg>aCg		Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	Thyrotropin Alfa(DB00024)						734	582	633					14																	81609760		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609760T>C	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1358T>C	14.37:g.81609760T>C	ENSP00000441235:p.Met453Thr		Somatic					p.M453T	NM_000369	NP_000360	WXS	Illumina GAIIx	Phase_I	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	9	1514	+			453		M -> T (in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas).			A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1358T>C	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661392	0.67700	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.39406	1.08;1.08	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	H	0.96604	3.85	0.80722	A	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85108	0.0961	9	0.87932	D	0	.	16.0365	0.80635	0.0:0.0:0.0:1.0	.	453	F5GYU5	.	T	453;100;453	ENSP00000441235:M453T;ENSP00000298171:M453T	ENSP00000298171:M453T	M	+	2	0	TSHR	80679513	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.196000	0.70406	0.459000	0.35465	ATG		0.527	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		52	105	0	0	0	1	0	52	105					C	81609760	T	C	81609760	3	2	257	1	0	0	0	0	1	0	0	0	16619	1464	51	3	1533	3	TSHR	14	81609760	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		81609760	25739780	12	4517											
GGA2	23062	broad.mit.edu	37	16	23498084	23498084	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr16:23498084G>T	ENST00000309859.4	-	7	689	c.607C>A	c.(607-609)Cac>Aac	p.H203N	GGA2_ENST00000567468.1_Missense_Mutation_p.H203N	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	203	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				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)		TCCTCGGGGTGGTTGCTCTTT	0.507																																						uc002dlq.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(607-609)Cac>Aac		Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.							226	216	219					16																	23498084		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.chr16:23498084G>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.607C>A	16.37:g.23498084G>T	ENSP00000311962:p.His203Asn		Somatic				GGA2_uc010bxo.2_Non-coding_Transcript	p.H203N	NM_015044	NP_055859	WXS	Illumina GAIIx	Phase_I	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	6	690	-			203			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.607C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288193	0.23478	.	.	ENSG00000103365	ENST00000309859	T	0.40225	1.04	6.07	6.07	0.98685	GAT (1);	0.102488	0.64402	D	0.000002	T	0.39172	0.1068	L	0.33624	1.015	0.36566	D	0.872697	D	0.55605	0.972	P	0.53360	0.724	T	0.24225	-1.0166	10	0.02654	T	1	-25.1868	13.0052	0.58701	0.0:0.0:0.8389:0.1611	.	203	Q9UJY4	GGA2_HUMAN	N	203	ENSP00000311962:H203N	ENSP00000311962:H203N	H	-	1	0	GGA2	23405585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.055000	0.57441	2.890000	0.99128	0.650000	0.86243	CAC		0.507	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			68	214	0	0	0	1	0	68	214					T	23498084	G	T	23498084	3	4	257	1	0	0	0	0	1	0	0	0	6353	1348	47	4	1278	4	GGA2	16	23498084	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		23498084	66856669	13	4518											
ADAMTS18	170692	broad.mit.edu	37	16	77401462	77401462	+	Silent	SNP	G	G	A	rs113746494		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr16:77401462G>A	ENST00000282849.5	-	4	1072	c.654C>T	c.(652-654)ccC>ccT	p.P218P	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	218					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)	p.G216_G219del(1)		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						GGCCAGAGCCGGGGTAGCCAC	0.552																																						uc002ffc.4																			1	Deletion - In frame(1)	p.G216_G219del(2)	ovary(1)	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.(652-654)ccC>ccT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							83	75	78					16																	77401462		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401462G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.654C>T	16.37:g.77401462G>A			Somatic				ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	p.P218P	NM_199355	NP_955387	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			3	1073	-			218					Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.654C>T	CCDS10926.1																																																																																				0.552	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			5	107	0	0	0	1	0	5	107					A	77401462	G	A	77401462	2	1	257	1	0	0	0	0	0	0	0	1	263	1103	39	1		1	ADAMTS18	16	77401462	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08	53903378	77401462	12953291	14	4519											
ZNF254	9534	broad.mit.edu	37	19	24310503	24310503	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr19:24310503T>G	ENST00000357002.4	+	4	1816	c.1701T>G	c.(1699-1701)atT>atG	p.I567M	ZNF254_ENST00000342944.6_Missense_Mutation_p.I482M	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	567					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAAGAGAATTCATACTGGAG	0.333																																						uc002nru.3																			0											c.(1699-1701)atT>atG		Homo sapiens zinc finger protein 254 (ZNF254), mRNA.							31	34	33					19																	24310503		2190	4284	6474	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310503T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1701T>G	19.37:g.24310503T>G	ENSP00000349494:p.Ile567Met		Somatic				ZNF254_uc010xrk.2_Missense_Mutation_p.I482M	p.I567M	NM_203282	NP_975011	WXS	Illumina GAIIx	Phase_I	O75437	ZN254_HUMAN			3	1835	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	567					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1701T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534829	0.27475	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.01025	5.43;5.43	0.525	0.525	0.17072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01454	0.0047	N	0.12502	0.225	0.26153	N	0.98012	D	0.76494	0.999	D	0.66847	0.947	T	0.55988	-0.8053	9	0.62326	D	0.03	.	5.2926	0.15735	0.0:1.0E-4:0.0:0.9999	.	567	O75437	ZN254_HUMAN	M	482;567	ENSP00000445527:I482M;ENSP00000349494:I567M	ENSP00000445527:I482M	I	+	3	3	ZNF254	24102343	0.001000	0.12720	0.242000	0.24170	0.930000	0.56654	-0.558000	0.05978	0.446000	0.26666	0.254000	0.18369	ATT		0.333	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		13	33	0	0	0	1	0	13	33					G	24310503	T	G	24310503	3	3	257	1	0	0	0	0	1	0	0	0	17795	1771	62	5	1715	5	ZNF254	19	24310503	Missense_Mutation	SNP	T	TCGA-EM-A2OW-01A-11D-A202-08		24310503	34818480	15	4520											
TOMM40	10452	broad.mit.edu	37	19	45397111	45397111	+	Silent	SNP	C	C	T	rs536598319		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr19:45397111C>T	ENST00000426677.2	+	4	690	c.510C>T	c.(508-510)ccC>ccT	p.P170P	TOMM40_ENST00000405636.2_Silent_p.P170P|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000592434.1_Silent_p.P170P|TOMM40_ENST00000252487.5_Silent_p.P170P	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	170					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCTGGGCCCCGGTCTCAGGT	0.647													C|||	1	0.000199681	0	0	5008	,	,		18936	0.001		0	False		,,,				2504	0					uc002paa.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						c.(508-510)ccC>ccT		Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							56	49	51					19																	45397111		2203	4300	6503	SO:0001819	synonymous_variant	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45397111C>T	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.510C>T	19.37:g.45397111C>T			Somatic				TOMM40_uc002ozz.3_Silent_p.P170P|TOMM40_uc002ozx.4_Silent_p.P170P|TOMM40_uc002ozy.4_Silent_p.P170P	p.P170P	NM_001128917	NP_006105	WXS	Illumina GAIIx	Phase_I	O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	3	706	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		170					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	c.510C>T	CCDS12646.1																																																																																				0.647	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			20	42	0	0	0	1	0	20	42					T	45397111	C	T	45397111	2	4	257	1	0	0	0	0	0	0	0	1	16355	639	23	1		1	TOMM40	19	45397111	Silent	SNP	C	TCGA-EM-A2OW-01A-11D-A202-08	21086608	45397111	13731872	16	4521											
C21orf70	85395	broad.mit.edu	37	21	46363721	46363721	+	Silent	SNP	G	G	A	rs200952167		TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chr21:46363721G>A	ENST00000291634.6	+	2	300	c.252G>A	c.(250-252)tcG>tcA	p.S84S	FAM207A_ENST00000397826.3_Intron	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	84																	AGGCAGGCTCGAGTGCACGGA	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		18989	0		0	False		,,,				2504	0					uc002zgl.3																			0											c.(250-252)tcG>tcA		Homo sapiens family with sequence similarity 207, member A (FAM207A), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	90	69	76		252	-0.6	0.0	21		76	0,8600		0,0,4300	no	coding-synonymous	FAM207A	NM_058190.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		84/231	46363721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85395							g.chr21:46363721G>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.252G>A	21.37:g.46363721G>A			Somatic				FAM207A_uc002zgm.3_Intron	p.S84S	NM_058190	NP_478070	WXS	Illumina GAIIx	Phase_I	Q9NSI2	CU070_HUMAN			1	270	+			84						Silent	SNP	ENST00000291634.6	37	c.252G>A	CCDS13718.1																																																																																				0.602	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		18	53	0	0	0	1	0	18	53					A	46363721	G	A	46363721	2	1	257	1	0	0	0	0	0	0	0	1	2133	1045	37	1		1	C21orf70	21	46363721	Silent	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		46363721	1766174	17	4522											
IGSF1	3547	broad.mit.edu	37	X	130411859	130411859	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2OW-01A-11D-A202-08	TCGA-EM-A2OW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a66d24-de77-4f2a-a8ad-d2c6a69e7671	a4765371-2387-4002-9887-2615e5136f7b	g.chrX:130411859G>C	ENST00000361420.3	-	13	2370	c.2291C>G	c.(2290-2292)cCc>cGc	p.P764R	IGSF1_ENST00000370903.3_Missense_Mutation_p.P769R|IGSF1_ENST00000370910.1_Missense_Mutation_p.P755R|IGSF1_ENST00000370904.1_Missense_Mutation_p.P755R|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	764					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CGGCTCACTGGGCTCAGACCA	0.527																																						uc004ewe.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2305-2307)cCc>cGc		Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.							109	100	103					X																	130411859		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411859G>C	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2291C>G	X.37:g.130411859G>C	ENSP00000355010:p.Pro764Arg		Somatic				IGSF1_uc004ewd.3_Missense_Mutation_p.P764R|IGSF1_uc022cdv.1_Missense_Mutation_p.P755R|IGSF1_uc004ewf.2_Missense_Mutation_p.P744R	p.P769R	NM_001170961	NP_001164432	WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			12	2589	-			764					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2306C>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698398	0.48307	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	4.88	4.88	0.63580	Immunoglobulin-like fold (1);	0.372467	0.20026	N	0.100814	T	0.28300	0.0699	L	0.39467	1.215	0.38553	D	0.949516	P;D;D	0.89917	0.829;1.0;1.0	P;D;D	0.91635	0.733;0.999;0.999	T	0.03403	-1.1040	10	0.87932	D	0	.	12.9346	0.58307	0.0:0.0:1.0:0.0	.	755;208;764	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	755;764;755;769	ENSP00000359947:P755R;ENSP00000355010:P764R;ENSP00000359941:P755R;ENSP00000359940:P769R	ENSP00000355010:P764R	P	-	2	0	IGSF1	130239540	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.711000	0.37930	2.354000	0.79902	0.594000	0.82650	CCC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			7	112	0	0	0	1	0	7	112					C	130411859	G	C	130411859	3	2	257	1	0	0	0	0	1	0	0	0	7596	1232	43	4	1751	4	IGSF1	23	130411859	Missense_Mutation	SNP	G	TCGA-EM-A2OW-01A-11D-A202-08		130411859	24858701	18	4523											
ABL2	27	broad.mit.edu	37	1	179112141	179112141	+	Intron	SNP	A	A	G			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr1:179112141A>G	ENST00000502732.1	-	2	361				ABL2_ENST00000512653.1_Silent_p.Y13Y|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000344730.3_Silent_p.Y13Y|ABL2_ENST00000504405.1_Silent_p.Y13Y|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000408940.3_Silent_p.Y13Y	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase						actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GATCTCTGCCATAACTATTAG	0.458			T	ETV6	AML																																	uc001gmi.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(37-39)taT>taC		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant c, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						112	109	110					1																	179112141		1958	4143	6101	SO:0001627	intron_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179112141A>G	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.158-9632T>C	1.37:g.179112141A>G			Somatic				ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc001gmj.4_Intron|ABL2_uc010pnh.2_Intron|ABL2_uc009wxe.3_Intron|ABL2_uc001gmg.4_Silent_p.Y13Y|ABL2_uc010pne.2_Silent_p.Y13Y|ABL2_uc001gmk.3_Silent_p.Y13Y|ABL2_uc009wxf.2_Silent_p.Y13Y	p.Y13Y	NM_005158	NP_005149	WXS	Illumina GAIIx	Phase_I	P42684	ABL2_HUMAN			0	84	-			0			CAP.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.39T>C	CCDS30947.1																																																																																				0.458	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		7	54	0	0	0	1	0	7	54					G	179112141	A	G	179112141	1	3	258	0	1	0	0	0	0	0	0	0	93	224	8	3		3	ABL2	1	179112141	Intron	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		179112141	70138480	1	4524											
HRH2	3274	broad.mit.edu	37	5	175110700	175110700	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr5:175110700A>T	ENST00000231683.2	+	1	2237	c.464A>T	c.(463-465)cAc>cTc	p.H155L	HRH2_ENST00000377291.2_Missense_Mutation_p.H155L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	155					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTGTCTATCCACCTGGGGTGG	0.552																																						uc003mdc.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(463-465)cAc>cTc		Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						120	98	106					5																	175110700		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110700A>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.464A>T	5.37:g.175110700A>T	ENSP00000231683:p.His155Leu		Somatic				HRH2_uc003mdd.2_Missense_Mutation_p.H155L	p.H155L	NM_001131055	NP_001124527	WXS	Illumina GAIIx	Phase_I	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1108	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	155					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.464A>T	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477393	0.44044	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.68331	-0.32;-0.32	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.118437	0.64402	D	0.000017	T	0.69904	0.3163	L	0.34521	1.04	0.58432	D	0.999997	B;D	0.56287	0.115;0.975	B;P	0.61003	0.115;0.882	T	0.67715	-0.5599	10	0.30078	T	0.28	.	14.394	0.66999	1.0:0.0:0.0:0.0	.	155;155	P25021;Q7Z5R9	HRH2_HUMAN;.	L	155	ENSP00000366506:H155L;ENSP00000231683:H155L	ENSP00000231683:H155L	H	+	2	0	HRH2	175043306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.005000	0.58758	0.379000	0.24179	CAC		0.552	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			9	58	0	0	0	1	0	9	58					T	175110700	A	T	175110700	3	4	258	1	0	0	0	0	1	0	0	0	7356	159	6	5	466	5	HRH2	5	175110700	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		175110700	5804560	2	4525											
ZNF117	51351	broad.mit.edu	37	7	64438817	64438817	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr7:64438817T>C	ENST00000282869.6	-	4	2416	c.1132A>G	c.(1132-1134)Aca>Gca	p.T378A		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	378					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)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATCTTATGTGTATTAAGGGCT	0.383																																						uc003ttr.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(1132-1134)Aca>Gca		Homo sapiens zinc finger protein 117 (ZNF117), mRNA.							112	119	117					7																	64438817		2120	4256	6376	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438817T>C	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1132A>G	7.37:g.64438817T>C	ENSP00000282869:p.Thr378Ala		Somatic					p.T378A	NM_015852	NP_056936	WXS	Illumina GAIIx	Phase_I	Q03924	ZN117_HUMAN			3	2417	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	378					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.1132A>G	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.281874	0.00251	.	.	ENSG00000152926	ENST00000282869	T	0.07216	3.21	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32214	-0.9915	9	0.19590	T	0.45	.	4.2076	0.10497	0.1605:0.3999:0.0:0.4396	.	378	Q03924	ZN117_HUMAN	A	378	ENSP00000282869:T378A	ENSP00000282869:T378A	T	-	1	0	ZNF117	64076252	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.676000	0.00396	-4.021000	0.00081	-3.237000	0.00051	ACA		0.383	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		7	53	0	0	0	1	0	7	53					C	64438817	T	C	64438817	3	2	258	1	0	0	0	0	1	0	0	0	17714	1638	57	3	323	3	ZNF117	7	64438817	Missense_Mutation	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08		64438817	94699846	3	4526											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	29	0	0	0	1	0	15	29					T	140453136	A	T	140453136	3	4	258	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08	76014319	140453136	18685527	4	4527											
JAK2	3717	broad.mit.edu	37	9	5029859	5029859	+	Silent	SNP	C	C	T			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr9:5029859C>T	ENST00000381652.3	+	4	797	c.303C>T	c.(301-303)gtC>gtT	p.V101V	JAK2_ENST00000539801.1_Silent_p.V101V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	101	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CCAACCATGTCTTCCATATAG	0.368		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													uc010mhm.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(301-303)gtC>gtT		Homo sapiens Janus kinase 2 (JAK2), mRNA.							177	172	174					9																	5029859		2203	4300	6503	SO:0001819	synonymous_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	g.chr9:5029859C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.303C>T	9.37:g.5029859C>T			Somatic				JAK2_uc003ziw.3_Silent_p.V101V	p.V101V	NM_004972	NP_004963	WXS	Illumina GAIIx	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	2	416	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	101			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.303C>T	CCDS6457.1																																																																																				0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			16	99	0	0	0	1	0	16	99					T	5029859	C	T	5029859	2	4	258	1	0	0	0	0	0	0	0	1	7938	900	32	2		2	JAK2	9	5029859	Silent	SNP	C	TCGA-EM-A2OX-01A-11D-A202-08		5029859	136183572	5	4528											
ANKRD30A	91074	broad.mit.edu	37	10	37454025	37454025	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr10:37454025A>T	ENST00000602533.1	+	18	1937	c.1838A>T	c.(1837-1839)gAg>gTg	p.E613V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E613V|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E613V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	669					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGATGAGATACTCCCA	0.308																																						uc021ppc.1																			0		p.E613K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1837-1839)gAg>gTg		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.							107	99	102					10																	37454025		1796	4055	5851	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454025A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1838A>T	10.37:g.37454025A>T	ENSP00000473551:p.Glu613Val		Somatic				ANKRD30A_uc001iza.1_Missense_Mutation_p.E613V	p.E613V	NM_052997	NP_443723	WXS	Illumina GAIIx	Phase_I	Q9BXX3	AN30A_HUMAN			17	1937	+			669					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1838A>T		.	.	.	.	.	.	.	.	.	.	.	3.629	-0.076035	0.07184	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05649	3.41;3.41	1.01	-2.02	0.07388	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.37466	0.596	B	0.29862	0.108	T	0.30995	-0.9959	9	0.52906	T	0.07	.	0.2954	0.00265	0.1997:0.2884:0.1969:0.315	.	669	Q9BXX3	AN30A_HUMAN	V	613	ENSP00000354432:E613V;ENSP00000363792:E613V	ENSP00000354432:E613V	E	+	2	0	ANKRD30A	37494031	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.684000	0.05173	-2.321000	0.00641	-2.124000	0.00347	GAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	48	0	0	0	1	0	6	48					T	37454025	A	T	37454025	3	4	258	1	0	0	0	0	1	0	0	0	658	304	11	5	1908	5	ANKRD30A	10	37454025	Missense_Mutation	SNP	A	TCGA-EM-A2OX-01A-11D-A202-08		37454025	98080722	6	4529											
CHUK	1147	broad.mit.edu	37	10	101953150	101953150	+	Silent	SNP	T	T	C			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr10:101953150T>C	ENST00000370397.7	-	19	2099	c.2013A>G	c.(2011-2013)ctA>ctG	p.L671L	RP11-316M21.7_ENST00000443919.1_RNA|CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	671					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGCACCTTCTAGACTGGATC	0.473																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(2011-2013)ctA>ctG		Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.							108	93	98					10																	101953150		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding	g.chr10:101953150T>C	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2013A>G	10.37:g.101953150T>C			Somatic					p.L671L	NM_001278	NP_001269	WXS	Illumina GAIIx	Phase_I	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	18	2068	-		Colorectal(252;0.117)	671					O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.2013A>G	CCDS7488.1																																																																																				0.473	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		22	51	0	0	0	1	0	22	51					C	101953150	T	C	101953150	2	2	258	1	0	0	0	0	0	0	0	1	3416	1509	53	3		3	CHUK	10	101953150	Silent	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08	64499125	101953150	33581597	7	4530											
ITGAX	3687	broad.mit.edu	37	16	31374648	31374648	+	Silent	SNP	C	C	T			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr16:31374648C>T	ENST00000268296.4	+	14	1784	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	ITGAX_ENST00000562522.1_Silent_p.L555L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	555					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						TGCTGTCTACCTGTTTCACGG	0.622																																						uc002ebt.3																			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.(1663-1665)Ctg>Ttg		Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.							109	111	110					16																	31374648		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374648C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1663C>T	16.37:g.31374648C>T			Somatic				ITGAX_uc002ebu.1_Silent_p.L555L|ITGAX_uc010vfk.1_Silent_p.L205L	p.L555L	NM_000887	NP_000878	WXS	Illumina GAIIx	Phase_I	P20702	ITAX_HUMAN			13	1730	+			555					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1663C>T	CCDS10711.1																																																																																				0.622	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		38	115	0	0	0	1	0	38	115					T	31374648	C	T	31374648	2	4	258	1	0	0	0	0	0	0	0	1	7889	680	24	2		2	ITGAX	16	31374648	Silent	SNP	C	TCGA-EM-A2OX-01A-11D-A202-08		31374648	58980105	8	4531											
ACD	65057	broad.mit.edu	37	16	67692859	67692859	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OX-01A-11D-A202-08	TCGA-EM-A2OX-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	474b66e6-0202-43b6-8806-d0470074c286	73556664-4b53-4e6b-94c7-28f1061cf074	g.chr16:67692859T>C	ENST00000393919.4	-	7	1139	c.875A>G	c.(874-876)cAc>cGc	p.H292R	PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.H289R|PARD6A_ENST00000458121.2_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	292	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)		GGCAGCCCAGTGGGTGACAGG	0.607																																						uc002etq.4																			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.(874-876)cAc>cGc		Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.							74	74	74					16																	67692859		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.chr16:67692859T>C	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.875A>G	16.37:g.67692859T>C	ENSP00000377496:p.His292Arg		Somatic				ACD_uc002etp.4_Missense_Mutation_p.H289R|ACD_uc002etr.4_Missense_Mutation_p.H289R|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	p.H292R	NM_001082486	NP_001075955	WXS	Illumina GAIIx	Phase_I	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	6	1212	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	292			Interaction with POT1.		Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.875A>G	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	T	2.413	-0.335000	0.05278	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.25912	1.78;1.77	4.96	-2.54	0.06307	.	0.933679	0.09024	N	0.859708	T	0.08537	0.0212	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.36720	-0.9736	10	0.05721	T	0.95	-0.4756	5.4879	0.16759	0.0:0.3791:0.1457:0.4753	.	292;289	Q96AP0;Q96AP0-2	ACD_HUMAN;.	R	289;292	ENSP00000219251:H289R;ENSP00000377496:H292R	ENSP00000219251:H289R	H	-	2	0	ACD	66250360	0.764000	0.28473	0.102000	0.21198	0.331000	0.28603	-0.696000	0.05104	-0.555000	0.06142	-0.464000	0.05259	CAC		0.607	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		16	75	0	0	0	1	0	16	75					C	67692859	T	C	67692859	3	2	258	1	0	0	0	0	1	0	0	0	135	1696	59	3	783	3	ACD	16	67692859	Missense_Mutation	SNP	T	TCGA-EM-A2OX-01A-11D-A202-08	36318211	67692859	22661894	9	4532											
LYPLAL1	127018	broad.mit.edu	37	1	219384958	219384958	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr1:219384958C>T	ENST00000366928.5	+	5	649	c.602C>T	c.(601-603)aCg>aTg	p.T201M	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.T185M	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	201					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GGAGTGACCACGAAGTTTCAT	0.373																																						uc001hlq.4																			0				large_intestine(1)|lung(5)	6						c.(601-603)aCg>aTg		Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA.							134	133	133					1																	219384958		2203	4300	6503	SO:0001583	missense	127018					cytoplasm	lysophospholipase activity	g.chr1:219384958C>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.602C>T	1.37:g.219384958C>T	ENSP00000355895:p.Thr201Met		Somatic				LYPLAL1_uc001hlr.4_Missense_Mutation_p.T185M|LYPLAL1_uc001hls.4_Missense_Mutation_p.T77M|LYPLAL1_uc001hlt.4_Missense_Mutation_p.T77M|LYPLAL1_uc009xds.3_Missense_Mutation_p.T150M	p.T201M	NM_138794	NP_620149	WXS	Illumina GAIIx	Phase_I	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	4	643	+			201					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	ENST00000366928.5	37	c.602C>T	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014209	0.35511	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.22539	1.95;1.97	6.16	6.16	0.99307	Phospholipase/carboxylesterase/thioesterase (1);	0.222920	0.46442	D	0.000281	T	0.33527	0.0866	M	0.62723	1.935	0.25334	N	0.989005	P;P;P	0.49559	0.925;0.873;0.896	B;B;P	0.46049	0.319;0.279;0.502	T	0.13656	-1.0501	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	77;185;201	B3KVW3;Q5VWZ2-2;Q5VWZ2	.;.;LYPL1_HUMAN	M	201;185	ENSP00000355895:T201M;ENSP00000355894:T185M	ENSP00000355894:T185M	T	+	2	0	LYPLAL1	217451581	0.075000	0.21258	0.372000	0.25991	0.005000	0.04900	3.714000	0.54889	2.937000	0.99478	0.650000	0.86243	ACG		0.373	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		15	64	0	0	0	1	0	15	64					T	219384958	C	T	219384958	3	4	259	1	0	0	0	0	1	0	0	0	9118	536	19	1	620	1	LYPLAL1	1	219384958	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		219384958	29865663	1	4533											
EHBP1	23301	broad.mit.edu	37	2	62934336	62934336	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:62934336G>T	ENST00000263991.5	+	2	492	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	EHBP1_ENST00000405289.1_Missense_Mutation_p.V4F|EHBP1_ENST00000431489.1_Missense_Mutation_p.V4F|EHBP1_ENST00000354487.3_Missense_Mutation_p.V4F|EHBP1_ENST00000405015.3_Missense_Mutation_p.V4F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	4						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CATGGCTTCAGTTTGGAAGAG	0.463																																						uc002sby.3																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(10-12)Gtt>Ttt		Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.							141	134	137					2																	62934336		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:62934336G>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.10G>T	2.37:g.62934336G>T	ENSP00000263991:p.Val4Phe		Somatic				EHBP1_uc010fcp.3_Missense_Mutation_p.V4F|EHBP1_uc010fcq.1_Missense_Mutation_p.V4F|EHBP1_uc002sbx.2_Missense_Mutation_p.V4F|EHBP1_uc002sbz.3_Missense_Mutation_p.V4F|EHBP1_uc002scb.3_Missense_Mutation_p.V4F|EHBP1_uc002sca.3_Missense_Mutation_p.V4F	p.V4F	NM_015252	NP_056067	WXS	Illumina GAIIx	Phase_I	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		1	492	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		4					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.10G>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443618	0.83993	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000427809;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	D;T;D;D;D;D	0.82433	-1.61;0.21;-1.61;-1.6;-1.6;-1.6	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000004	D	0.91300	0.7257	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.971;0.963;1.0	D;B;P;D	0.85130	0.997;0.441;0.839;0.997	D	0.92530	0.6032	10	0.87932	D	0	.	18.2632	0.90043	0.0:0.0:1.0:0.0	.	4;4;4;4	Q8NDI1-2;A8K930;Q8NDI1-3;Q8NDI1	.;.;.;EHBP1_HUMAN	F	4	ENSP00000384143:V4F;ENSP00000384829:V4F;ENSP00000403783:V4F;ENSP00000263991:V4F;ENSP00000346482:V4F;ENSP00000385524:V4F	ENSP00000263991:V4F	V	+	1	0	EHBP1	62787840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.799000	0.99117	2.289000	0.77006	0.655000	0.94253	GTT		0.463	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		19	36	0	0	0	1	0	19	36					T	62934336	G	T	62934336	3	4	259	1	0	0	0	0	1	0	0	0	4975	1029	36	4	12	4	EHBP1	2	62934336	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		62934336	180265037	2	4534											
ETAA1	54465	broad.mit.edu	37	2	67630066	67630066	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:67630066G>T	ENST00000272342.5	+	4	632	c.502G>T	c.(502-504)Gta>Tta	p.V168L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	168						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TACTCCCAGTGTAGCAAAAGG	0.353																																						uc002sdz.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(502-504)Gta>Tta		Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.							107	102	104					2																	67630066		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630066G>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.502G>T	2.37:g.67630066G>T	ENSP00000272342:p.Val168Leu		Somatic					p.V168L	NM_019002	NP_061875	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			3	641	+			168					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.502G>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316894	0.60524	.	.	ENSG00000143971	ENST00000272342	T	0.24350	1.86	6.16	3.01	0.34805	.	0.194336	0.43747	D	0.000523	T	0.40670	0.1126	M	0.71581	2.175	0.44175	D	0.996981	D	0.67145	0.996	P	0.54924	0.764	T	0.43718	-0.9374	10	0.87932	D	0	-0.5245	12.2802	0.54759	0.2143:0.0:0.7857:0.0	.	168	Q9NY74	ETAA1_HUMAN	L	168	ENSP00000272342:V168L	ENSP00000272342:V168L	V	+	1	0	ETAA1	67483570	0.892000	0.30473	0.946000	0.38457	0.937000	0.57800	1.077000	0.30741	0.947000	0.37659	-0.145000	0.13849	GTA		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		3	51	0	0	0	1	0	3	51					T	67630066	G	T	67630066	3	4	259	1	0	0	0	0	1	0	0	0	5267	1377	48	4	516	4	ETAA1	2	67630066	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08	4695730	67630066	175569307	3	4535											
C2orf83	56918	broad.mit.edu	37	2	228476316	228476316	+	Missense_Mutation	SNP	C	C	T	rs111332429		TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:228476316C>T	ENST00000264387.4	-	3	333	c.247G>A	c.(247-249)Gta>Ata	p.V83I	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	83					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATGTCTGTACGGTAAGTTTC	0.468													C|||	1	0.000199681	0	0.0014	5008	,	,		19316	0		0	False		,,,				2504	0					uc002vph.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						c.(247-249)Gta>Ata		Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.		C	,ILE/VAL	10,4396	16.8+/-37.8	0,10,2193	87	92	90		,247	-0.5	0.0	2	dbSNP_132	90	0,8600		0,0,4300	yes	utr-3,missense	C2orf83	NM_001162483.1,NM_020161.3	,29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,benign	,83/151	228476316	10,12996	2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476316C>T		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.247G>A	2.37:g.228476316C>T	ENSP00000264387:p.Val83Ile		Somatic				C2orf83_uc010zlu.2_3'UTR	p.V83I	NM_020161	NP_064546	WXS	Illumina GAIIx	Phase_I	Q53S99	CB083_HUMAN			2	482	-			83					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.247G>A	CCDS33388.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.501	1.103294	0.20632	0.00227	0.0	ENSG00000042304	ENST00000264387	T	0.59638	0.25	2.38	-0.461	0.12172	.	.	.	.	.	T	0.35335	0.0928	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24368	-1.0162	9	0.72032	D	0.01	.	5.1469	0.14989	0.0:0.5472:0.0:0.4528	.	83	Q53S99	CB083_HUMAN	I	83	ENSP00000264387:V83I	ENSP00000264387:V83I	V	-	1	0	C2orf83	228184560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.706000	0.05047	-0.133000	0.11537	-0.219000	0.12488	GTA		0.468	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		6	55	0	0	0	1	0	6	55					T	228476316	C	T	228476316	3	4	259	1	0	0	0	0	1	0	0	0	2198	536	19	1	209	1	C2orf83	2	228476316	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08	160846250	228476316	14723057	4	4536											
AP3B1	8546	broad.mit.edu	37	5	77311327	77311327	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr5:77311327G>A	ENST00000255194.6	-	26	3213	c.3038C>T	c.(3037-3039)gCa>gTa	p.A1013V	AP3B1_ENST00000519295.1_Missense_Mutation_p.A964V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1013					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)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATTCTGTGGTGCAGCAATGAT	0.383									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3037-3039)gCa>gTa		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							110	110	110					5																	77311327		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311327G>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3038C>T	5.37:g.77311327G>A	ENSP00000255194:p.Ala1013Val		Somatic					p.A1013V	NM_003664	NP_003655	WXS	Illumina GAIIx	Phase_I	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	25	3163	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1013					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3038C>T	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.49|12.49	1.954887|1.954887	0.34471|0.34471	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.55930|.	0.49;0.49|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.234278|.	0.43110|.	D|.	0.000613|.	T|T	0.47525|0.47525	0.1450|0.1450	L|L	0.38175|0.38175	1.15|1.15	0.31732|0.31732	N|N	0.636965|0.636965	B|.	0.32573|.	0.376|.	B|.	0.30401|.	0.115|.	T|T	0.52540|0.52540	-0.8562|-0.8562	10|5	0.30854|.	T|.	0.27|.	-8.5507|-8.5507	14.2101|14.2101	0.65759|0.65759	0.0:0.0:0.8506:0.1494|0.0:0.0:0.8506:0.1494	.|.	1013|.	O00203|.	AP3B1_HUMAN|.	V|Y	1013;964|113	ENSP00000255194:A1013V;ENSP00000430597:A964V|.	ENSP00000255194:A1013V|.	A|H	-|-	2|1	0|0	AP3B1|AP3B1	77347083|77347083	1.000000|1.000000	0.71417|0.71417	0.544000|0.544000	0.28141|0.28141	0.876000|0.876000	0.50452|0.50452	6.260000|6.260000	0.72502|0.72502	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.383	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			24	75	0	0	0	1	0	24	75					A	77311327	G	A	77311327	3	1	259	1	0	0	0	0	1	0	0	0	744	1319	46	2	254	2	AP3B1	5	77311327	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		77311327	103603933	5	4537											
COL12A1	1303	broad.mit.edu	37	6	75843113	75843113	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr6:75843113T>C	ENST00000322507.8	-	34	5999	c.5690A>G	c.(5689-5691)tAt>tGt	p.Y1897C	COL12A1_ENST00000483888.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y733C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1897	Fibronectin type-III 14. {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						AAGAATGGCATAATTGGTATT	0.368																																						uc021zbv.1																			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.(5689-5691)tAt>tGt		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.							108	99	102					6																	75843113		1852	4086	5938	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.chr6:75843113T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5690A>G	6.37:g.75843113T>C	ENSP00000325146:p.Tyr1897Cys		Somatic				COL12A1_uc021zbw.1_Missense_Mutation_p.Y733C|COL12A1_uc003phs.3_Missense_Mutation_p.Y1897C|COL12A1_uc003pht.3_Missense_Mutation_p.Y733C	p.Y1897C	NM_004370	NP_004361	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			32	5725	-			1897			Fibronectin type-III 14.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5690A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665310	0.67700	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.56992	0.2023	L	0.47716	1.5	0.41843	D	0.990133	D;D	0.76494	0.998;0.999	P;D	0.69142	0.906;0.962	T	0.58126	-0.7691	10	0.44086	T	0.13	.	15.7265	0.77763	0.0:0.0:0.0:1.0	.	733;1897	Q99715-2;Q99715	.;COCA1_HUMAN	C	1897;1897;733;1897;1897	ENSP00000325146:Y1897C;ENSP00000305147:Y733C;ENSP00000412864:Y1897C;ENSP00000421216:Y1897C	ENSP00000325146:Y1897C	Y	-	2	0	COL12A1	75899833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.692000	0.37731	2.169000	0.68431	0.528000	0.53228	TAT		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		17	39	0	0	0	1	0	17	39					C	75843113	T	C	75843113	3	2	259	1	0	0	0	0	1	0	0	0	3669	1406	49	3	3633	3	COL12A1	6	75843113	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		75843113	95271954	6	4538											
GPR141	353345	broad.mit.edu	37	7	37780300	37780300	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:37780300C>T	ENST00000447769.1	+	4	594	c.305C>T	c.(304-306)aCg>aTg	p.T102M	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.T102M			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGTACCTCACGTTCCTATTC	0.473																																						uc003tfm.1																			0		p.T102T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(304-306)aCg>aTg		Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.							116	100	106					7																	37780300		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780300C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.305C>T	7.37:g.37780300C>T	ENSP00000390410:p.Thr102Met		Somatic				BC043356_uc003tfl.3_Intron	p.T102M	NM_181791	NP_861456	WXS	Illumina GAIIx	Phase_I	Q7Z602	GP141_HUMAN			0	305	+			102					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.305C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522166	0.64747	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.38240	1.15;1.15;1.15	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.189693	0.47093	D	0.000250	T	0.61702	0.2368	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66048	-0.6020	10	0.87932	D	0	-23.681	17.5994	0.88022	0.0:1.0:0.0:0.0	.	102	Q7Z602	GP141_HUMAN	M	102	ENSP00000396300:T102M;ENSP00000390410:T102M;ENSP00000334540:T102M	ENSP00000334540:T102M	T	+	2	0	GPR141	37746825	0.988000	0.35896	0.918000	0.36340	0.800000	0.45204	2.972000	0.49256	2.517000	0.84864	0.650000	0.86243	ACG		0.473	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		22	78	0	0	0	1	0	22	78					T	37780300	C	T	37780300	3	4	259	1	0	0	0	0	1	0	0	0	6649	536	19	1	307	1	GPR141	7	37780300	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		37780300	121358363	7	4539											
CNPY4	245812	broad.mit.edu	37	7	99720117	99720117	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:99720117G>A	ENST00000262932.3	+	3	391	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	87						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACAAGGCTGGAAGAGGCCTT	0.537																																						uc003uto.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(259-261)Gaa>Aaa		Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.							120	129	126					7																	99720117		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720117G>A	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.259G>A	7.37:g.99720117G>A	ENSP00000262932:p.Glu87Lys		Somatic				TAF6_uc011kji.2_5'Flank	p.E87K	NM_152755	NP_689968	WXS	Illumina GAIIx	Phase_I	Q8N129	CNPY4_HUMAN			2	362	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		87					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.259G>A	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530458	0.85706	.	.	ENSG00000166997	ENST00000262932	T	0.35973	1.28	5.39	5.39	0.77823	.	0.118890	0.64402	D	0.000019	T	0.37073	0.0990	L	0.36672	1.1	0.38865	D	0.956564	P	0.47545	0.897	P	0.48488	0.579	T	0.10245	-1.0638	10	0.29301	T	0.29	-13.7383	14.6431	0.68739	0.0:0.0:1.0:0.0	.	87	Q8N129	CNPY4_HUMAN	K	87	ENSP00000262932:E87K	ENSP00000262932:E87K	E	+	1	0	CNPY4	99558053	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.356000	0.66052	2.509000	0.84616	0.561000	0.74099	GAA		0.537	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		53	249	0	0	0	1	0	53	249					A	99720117	G	A	99720117	3	1	259	1	0	0	0	0	1	0	0	0	3630	1175	41	2	269	2	CNPY4	7	99720117	Missense_Mutation	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08	61939817	99720117	59418546	8	4540											
TLL2	7093	broad.mit.edu	37	10	98155751	98155751	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr10:98155751C>T	ENST00000357947.3	-	12	1636	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	471	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGACCGGCATCTTTGTTCATG	0.517											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kml.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1411-1413)Gat>Aat		Homo sapiens tolloid-like 2 (TLL2), mRNA.							99	102	101					10																	98155751		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155751C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1411G>A	10.37:g.98155751C>T	ENSP00000350630:p.Asp471Asn		Somatic	OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1333	TLL2_uc009xvf.2_Missense_Mutation_p.D449N	p.D471N	NM_012465	NP_036597	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1652	-		Colorectal(252;0.0846)	471			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1411G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115833	0.77323	.	.	ENSG00000095587	ENST00000357947	T	0.17691	2.26	5.37	5.37	0.77165	CUB (5);	0.000000	0.47093	D	0.000244	T	0.31544	0.0800	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01323	-1.1385	10	0.15952	T	0.53	.	18.2839	0.90107	0.0:1.0:0.0:0.0	.	471	Q9Y6L7	TLL2_HUMAN	N	471	ENSP00000350630:D471N	ENSP00000350630:D471N	D	-	1	0	TLL2	98145741	1.000000	0.71417	0.992000	0.48379	0.586000	0.36452	5.886000	0.69743	2.793000	0.96121	0.563000	0.77884	GAT		0.517	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			37	94	0	0	0	1	0	37	94					T	98155751	C	T	98155751	3	4	259	1	0	0	0	0	1	0	0	0	15943	913	32	2	1676	2	TLL2	10	98155751	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08		98155751	37378996	9	4541											
UBQLN3	50613	broad.mit.edu	37	11	5528997	5528997	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr11:5528997T>C	ENST00000311659.4	-	2	1939	c.1792A>G	c.(1792-1794)Atg>Gtg	p.M598V	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	598										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTGCAGCATATGGAGAAAG	0.542																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1792-1794)Atg>Gtg		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							62	66	65					11																	5528997		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5528997T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1792A>G	11.37:g.5528997T>C	ENSP00000347997:p.Met598Val		Somatic				HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc021qcw.1_Missense_Mutation_p.M598V	p.M598V	NM_017481	NP_059509	WXS	Illumina GAIIx	Phase_I	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1878	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	598					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1792A>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	t	0.023	-1.403194	0.01165	.	.	ENSG00000175520	ENST00000311659	T	0.40225	1.04	5.02	-0.0539	0.13816	UBA-like (1);	0.635417	0.14713	N	0.302800	T	0.29524	0.0736	M	0.64080	1.96	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29671	-1.0004	10	0.10377	T	0.69	0.1253	2.7558	0.05292	0.3229:0.1835:0.0:0.4936	.	598	Q9H347	UBQL3_HUMAN	V	598	ENSP00000347997:M598V	ENSP00000347997:M598V	M	-	1	0	UBQLN3	5485573	0.001000	0.12720	0.029000	0.17559	0.022000	0.10575	0.613000	0.24299	-0.095000	0.12351	-1.168000	0.01747	ATG		0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		59	40	0	0	0	1	0	59	40					C	5528997	T	C	5528997	3	2	259	1	0	0	0	0	1	0	0	0	16895	1406	49	3	179	3	UBQLN3	11	5528997	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		5528997	129477519	10	4542											
LRTM2	654429	broad.mit.edu	37	12	1940261	1940261	+	Silent	SNP	G	G	A			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr12:1940261G>A	ENST00000543818.1	+	4	1070	c.228G>A	c.(226-228)ttG>ttA	p.L76L	LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Silent_p.L76L|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.L76L|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	76						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TCTTGCTCTTGAACAATAAGC	0.642																																						uc001qjt.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(226-228)ttG>ttA		Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.							76	84	82					12																	1940261		2203	4300	6503	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1940261G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.228G>A	12.37:g.1940261G>A			Somatic				CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.L76L|LRTM2_uc010sdx.1_Silent_p.L76L|LRTM2_uc001qjv.2_Intron	p.L76L	NM_001039029	NP_001157398	WXS	Illumina GAIIx	Phase_I	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		3	1034	+	Ovarian(42;0.107)		76					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.228G>A	CCDS31726.1																																																																																				0.642	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			60	192	0	0	0	1	0	60	192					A	1940261	G	A	1940261	2	1	259	1	0	0	0	0	0	0	0	1	9045	1281	45	2		2	LRTM2	12	1940261	Silent	SNP	G	TCGA-EM-A2OY-01A-11D-A202-08		1940261	131911634	11	4543											
C14orf109	64112	broad.mit.edu	37	14	93652904	93652904	+	5'Flank	SNP	A	A	G			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr14:93652904A>G	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000283534.4_Missense_Mutation_p.K95R|RP11-371E8.4_ENST00000557574.1_Intron|TMEM251_ENST00000415050.2_Missense_Mutation_p.K133R			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		GCTGATCCCAAAACAGTGGGC	0.418																																						uc010auo.3																			0				kidney(1)	1						c.(397-399)aAa>aGa		Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 1, mRNA.							172	164	166					14																	93652904		1918	4126	6044	SO:0001631	upstream_gene_variant	26175					integral to membrane		g.chr14:93652904A>G	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652904A>G	Exception_encountered		Somatic				MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc001ybk.4_Missense_Mutation_p.K95R|C14orf109_uc021sax.1_Missense_Mutation_p.K95R	p.K133R	NM_001098621	NP_056491	WXS	Illumina GAIIx	Phase_I	Q8N6I4	CN109_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)	1	756	+		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)	127					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.398A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089705	0.55968	.	.	ENSG00000153485	ENST00000283534;ENST00000415050	.	.	.	5.86	5.86	0.93980	.	0.051642	0.85682	D	0.000000	T	0.47154	0.1430	N	0.19112	0.55	0.54753	D	0.999984	B	0.30146	0.27	B	0.32533	0.147	T	0.48019	-0.9071	9	0.52906	T	0.07	-23.2635	16.3082	0.82856	1.0:0.0:0.0:0.0	.	127	Q8N6I4	CN109_HUMAN	R	95;133	.	ENSP00000283534:K95R	K	+	2	0	C14orf109	92722657	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.265000	0.78442	2.250000	0.74265	0.456000	0.33151	AAA		0.418	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			5	239	0	0	0	1	0	5	239					G	93652904	A	G	93652904	1	3	259	0	1	0	0	0	0	0	0	0	1739	14	1	3		3	C14orf109	14	93652904	5'Flank	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		93652904	13696636	12	4544											
C14orf73	91828	broad.mit.edu	37	14	103568560	103568560	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr14:103568560C>T	ENST00000380069.3	+	2	576	c.500C>T	c.(499-501)aCc>aTc	p.T167I		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	167					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCCTCGCGCACCTTTGAGCAG	0.657																																						uc001ymk.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(499-501)aCc>aTc		Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.							13	14	13					14																	103568560		2200	4296	6496	SO:0001583	missense	91828							g.chr14:103568560C>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.500C>T	14.37:g.103568560C>T	ENSP00000369409:p.Thr167Ile		Somatic					p.T167I	NM_001077594	NP_001071062	WXS	Illumina GAIIx	Phase_I	Q17RC7	EX3L4_HUMAN			1	576	+			167					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.500C>T	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817588	0.32145	.	.	ENSG00000205436	ENST00000380069	T	0.05717	3.4	3.93	1.98	0.26296	.	0.513660	0.16187	N	0.225588	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.47302	0.893	B	0.40165	0.321	T	0.35599	-0.9782	10	0.66056	D	0.02	-10.9008	8.047	0.30555	0.1736:0.6563:0.1701:0.0	.	167	Q17RC7	EX3L4_HUMAN	I	167	ENSP00000369409:T167I	ENSP00000369409:T167I	T	+	2	0	EXOC3L4	102638313	0.000000	0.05858	0.790000	0.31976	0.815000	0.46073	0.193000	0.17116	2.004000	0.58718	0.555000	0.69702	ACC		0.657	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		6	19	0	0	0	1	0	6	19					T	103568560	C	T	103568560	3	4	259	1	0	0	0	0	1	0	0	0	1779	507	18	2	506	2	C14orf73	14	103568560	Missense_Mutation	SNP	C	TCGA-EM-A2OY-01A-11D-A202-08	9915656	103568560	3780980	13	4545											
FUK	197258	broad.mit.edu	37	16	70509259	70509259	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr16:70509259T>C	ENST00000288078.6	+	19	2616	c.2384T>C	c.(2383-2385)cTg>cCg	p.L795P	FUK_ENST00000378912.2_Missense_Mutation_p.L827P|FUK_ENST00000571514.1_Missense_Mutation_p.L286P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	795						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)				GCAGGGGCCCTGCTGAAGGCG	0.627																																						uc010cft.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(2479-2481)cTg>cCg		Homo sapiens fucokinase (FUK), mRNA.							46	49	48					16																	70509259		2055	4190	6245	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70509259T>C		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2384T>C	16.37:g.70509259T>C	ENSP00000288078:p.Leu795Pro		Somatic				FUK_uc002eyy.3_Missense_Mutation_p.L795P|FUK_uc002eyz.3_Missense_Mutation_p.L286P	p.L827P	NM_145059	NP_659496	WXS	Illumina GAIIx	Phase_I	Q8N0W3	FUK_HUMAN			18	2538	+		Ovarian(137;0.0694)	795					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.2480T>C	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.267866	0.80469	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	D;D	0.92397	-3.03;-3.03	5.12	5.12	0.69794	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	D	0.000002	D	0.96500	0.8858	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.98;0.986	D	0.97285	0.9920	10	0.87932	D	0	-13.9003	15.078	0.72090	0.0:0.0:0.0:1.0	.	827;701;795	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	P	795;827;109	ENSP00000288078:L795P;ENSP00000368192:L827P	ENSP00000288078:L795P	L	+	2	0	FUK	69066760	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.126000	0.77201	2.150000	0.67090	0.454000	0.30748	CTG		0.627	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		3	86	0	0	0	1	0	3	86					C	70509259	T	C	70509259	3	2	259	1	0	0	0	0	1	0	0	0	6096	1580	55	3	2454	3	FUK	16	70509259	Missense_Mutation	SNP	T	TCGA-EM-A2OY-01A-11D-A202-08		70509259	19845494	14	4546											
KRTAP4-2	85291	broad.mit.edu	37	17	39334209	39334209	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr17:39334209A>G	ENST00000377726.2	-	1	251	c.208T>C	c.(208-210)Tgc>Cgc	p.C70R		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	70	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCCTGCAGCAAGTGGTCTGG	0.672																																						uc002hwd.3																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(208-210)Tgc>Cgc		Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.							42	48	46					17																	39334209		2202	4298	6500	SO:0001583	missense	85291					keratin filament		g.chr17:39334209A>G	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.208T>C	17.37:g.39334209A>G	ENSP00000366955:p.Cys70Arg		Somatic					p.C70R	NM_033062	NP_149051	WXS	Illumina GAIIx	Phase_I	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		0	252	-		Breast(137;0.000496)	70			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.208T>C	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178797	0.38511	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.04862	3.54	4.59	3.51	0.40186	.	.	.	.	.	T	0.31420	0.0796	H	0.96889	3.9	0.39658	D	0.970576	D	0.67145	0.996	D	0.83275	0.996	T	0.08066	-1.0740	9	0.87932	D	0	.	4.1294	0.10143	0.7211:0.0:0.0995:0.1794	.	70	Q9BYR5	KRA42_HUMAN	R	70;187	ENSP00000366955:C70R	ENSP00000366955:C70R	C	-	1	0	KRTAP4-2	36587735	0.654000	0.27367	0.126000	0.21872	0.006000	0.05464	2.179000	0.42528	0.708000	0.31955	0.460000	0.39030	TGC		0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			24	148	0	0	0	1	0	24	148					G	39334209	A	G	39334209	3	3	259	1	0	0	0	0	1	0	0	0	8551	130	5	3	206	3	KRTAP4-2	17	39334209	Missense_Mutation	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		39334209	41861001	15	4547											
SHROOM2	357	broad.mit.edu	37	X	9862838	9862838	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chrX:9862838A>G	ENST00000380913.3	+	4	980	c.890A>G	c.(889-891)aAt>aGt	p.N297S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	297					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)				GGGAGGTCCAATTTTGGGCCA	0.612																																						uc004csu.1																			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.(889-891)aAt>aGt		Homo sapiens shroom family member 2 (SHROOM2), mRNA.							39	31	34					X																	9862838		2203	4300	6503	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:9862838A>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.890A>G	X.37:g.9862838A>G	ENSP00000370299:p.Asn297Ser		Somatic					p.N297S	NM_001649	NP_001640	WXS	Illumina GAIIx	Phase_I	Q13796	SHRM2_HUMAN			3	980	+		Hepatocellular(5;0.000888)	297					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.890A>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	1.090	-0.664297	0.03428	.	.	ENSG00000146950	ENST00000380913	T	0.16073	2.37	4.38	-3.89	0.04193	.	0.407996	0.27782	N	0.017861	T	0.07234	0.0183	N	0.13043	0.29	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.43163	-0.9408	10	0.09590	T	0.72	-7.5296	11.5525	0.50729	0.6912:0.0:0.3088:0.0	.	297	Q13796	SHRM2_HUMAN	S	297	ENSP00000370299:N297S	ENSP00000370299:N297S	N	+	2	0	SHROOM2	9822838	.	.	0.005000	0.12908	0.659000	0.38960	.	.	-1.281000	0.02399	-0.314000	0.08810	AAT		0.612	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		17	65	0	0	0	1	0	17	65					G	9862838	A	G	9862838	3	3	259	1	0	0	0	0	1	0	0	0	14294	101	4	3	904	3	SHROOM2	23	9862838	Missense_Mutation	SNP	A	TCGA-EM-A2OY-01A-11D-A202-08		9862838	145407722	16	4548											
PRDM16	63976	broad.mit.edu	37	1	3328631	3328642	+	In_Frame_Del	DEL	GACCTGGACAGC	GACCTGGACAGC	-			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr1:3328631_3328642delGACCTGGACAGC	ENST00000270722.5	+	9	1919_1930	c.1870_1881delGACCTGGACAGC	c.(1870-1881)gacctggacagcdel	p.DLDS624del	PRDM16_ENST00000442529.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000511072.1_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000514189.1_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000441472.2_In_Frame_Del_p.DLDS624del|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_In_Frame_Del_p.DLDS625del|PRDM16_ENST00000378391.2_In_Frame_Del_p.DLDS624del			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.D624Y(1)|p.L625M(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAGCGACGTGGACA	0.679			T	EVI1	"MDS, AML"																																	uc001akf.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		2	Substitution - Missense(2)	p.D624Y(2)|p.L625M(2)|p.S623S(1)	large_intestine(1)|lung(1)	breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1870-1881)gacctggacagcdel		Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328631_3328642delGACCTGGACAGC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1870_1881delGACCTGGACAGC	1.37:g.3328631_3328642delGACCTGGACAGC	ENSP00000270722:p.Asp624_Ser627del		Somatic				PRDM16_uc001ake.3_In_Frame_Del_p.DLDS624del|PRDM16_uc009vlh.3_In_Frame_Del_p.DLDS325del|PRDM16_uc001akc.3_In_Frame_Del_p.DLDS624del	p.DLDS624del	NM_022114	NP_071397	WXS	Illumina GAIIx	Phase_I	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	8	1952_1963	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	624					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	In_Frame_Del	DEL	ENST00000270722.5	37	c.1870_1881delGACCTGGACAGC	CCDS41236.2																																																																																				0.679	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		32	72						32	72	---	---	---	---	-	3328642	GACCTGGACAGC	-	3328631	7	5	260	1	0	1	0	1	0	0	0	0	12457	1174	41	0	1904	0	PRDM16	1	3328631	In_Frame_Del	DEL	GACCTGGACAGC	TCGA-EM-A2OZ-01A-11D-A202-08		3328631	245921990	1	4549											
MPV17	4358	broad.mit.edu	37	2	27535568	27535568	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:27535568C>T	ENST00000380044.1	-	4	313	c.258G>A	c.(256-258)ctG>ctA	p.L86L	MPV17_ENST00000357186.6_Silent_p.L30L|MPV17_ENST00000233545.2_Silent_p.L86L|MPV17_ENST00000405076.1_Intron|MPV17_ENST00000402310.1_Silent_p.L86L|MPV17_ENST00000403262.2_Silent_p.L86L|MPV17_ENST00000405983.1_Silent_p.L101L|MPV17_ENST00000402722.1_Missense_Mutation_p.E75K	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	86					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCTTCTTCAGTGCATCCA	0.527																																						uc002rjr.3																			0				lung(4)	4						c.(256-258)ctG>ctA		Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.							217	215	215					2																	27535568		2203	4300	6503	SO:0001819	synonymous_variant	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27535568C>T		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"glomerulosclerosis"	137960	"MpV17 transgene, murine homolog, glomerulosclerosis"			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.258G>A	2.37:g.27535568C>T			Somatic				MPV17_uc002rjs.3_Silent_p.L86L|MPV17_uc002rjt.3_Non-coding_Transcript	p.L86L	NM_002437	NP_002428	WXS	Illumina GAIIx	Phase_I	P39210	MPV17_HUMAN			2	305	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		86					D6W555|Q53SY2|Q96B08	Silent	SNP	ENST00000380044.1	37	c.258G>A	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300081	0.40694	.	.	ENSG00000115204	ENST00000402722	T	0.80214	-1.35	5.58	-4.11	0.03928	.	.	.	.	.	T	0.81014	0.4735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77161	-0.2689	6	0.87932	D	0	.	8.3886	0.32516	0.0:0.7326:0.1669:0.1005	.	.	.	.	K	75	ENSP00000386000:E75K	ENSP00000386000:E75K	E	-	1	0	MPV17	27389072	0.005000	0.15991	0.441000	0.26858	0.768000	0.43524	-1.650000	0.01991	-1.359000	0.02174	-0.253000	0.11424	GAA		0.527	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		5	43	0	0	0	1	0	5	43					T	27535568	C	T	27535568	2	4	260	1	0	0	0	0	0	0	0	1	9745	813	29	2		2	MPV17	2	27535568	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		27535568	215663805	2	4550											
KLRAQ1	129285	broad.mit.edu	37	2	48725770	48725770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:48725770C>T	ENST00000294952.8	+	17	1988	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q580*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q611*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	611						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						AGGTAGTGCCCAGCTGGTTGG	0.483																																						uc002rwm.3																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1831-1833)Cag>Tag		Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.							104	97	99					2																	48725770		2203	4300	6503	SO:0001587	stop_gained	129285							g.chr2:48725770C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1831C>T	2.37:g.48725770C>T	ENSP00000294952:p.Gln611*		Somatic				PPP1R21_uc002rwl.3_Nonsense_Mutation_p.Q565*|PPP1R21_uc002rwk.3_Nonsense_Mutation_p.Q611*|PPP1R21_uc010yok.2_Nonsense_Mutation_p.Q580*	p.Q611*	NM_001135629	NP_001129101	WXS	Illumina GAIIx	Phase_I	Q6ZMI0	KLRAQ_HUMAN			16	2016	+			611					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	c.1831C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698474	0.88830	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.87	5.87	0.94306	.	0.365763	0.32244	N	0.006370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-18.3415	20.2182	0.98305	0.0:1.0:0.0:0.0	.	.	.	.	X	611;611;580	.	ENSP00000281394:Q611X	Q	+	1	0	KLRAQ1	48579274	1.000000	0.71417	0.992000	0.48379	0.223000	0.24884	4.709000	0.61867	2.785000	0.95823	0.655000	0.94253	CAG		0.483	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		3	34	0	0	0	1	0	3	34					T	48725770	C	T	48725770	4	4	260	1	0	0	0	0	0	1	0	0	8413	595	21	2	1897	2	KLRAQ1	2	48725770	Nonsense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	21190202	48725770	194473603	3	4551											
FAM117B	150864	broad.mit.edu	37	2	203620264	203620264	+	Missense_Mutation	SNP	C	C	T	rs564095694		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:203620264C>T	ENST00000392238.2	+	5	964	c.964C>T	c.(964-966)Cct>Tct	p.P322S	FAM117B_ENST00000303116.6_Missense_Mutation_p.P78S			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	322										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCTTAAGGCTCCTGTTCCAAA	0.398													C|||	1	0.000199681	0	0	5008	,	,		17832	0.001		0	False		,,,				2504	0					uc010zhx.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(964-966)Cct>Tct		Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.							171	162	165					2																	203620264		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203620264C>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.964C>T	2.37:g.203620264C>T	ENSP00000376071:p.Pro322Ser		Somatic					p.P322S	NM_173511	NP_775782	WXS	Illumina GAIIx	Phase_I	Q6P1L5	F117B_HUMAN			4	974	+			322					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.964C>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412136	0.25465	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.13	5.13	0.70059	.	0.048849	0.85682	D	0.000000	T	0.34483	0.0899	N	0.12502	0.225	0.44214	D	0.997045	B	0.19583	0.037	B	0.22601	0.04	T	0.21552	-1.0242	9	0.02654	T	1	-5.144	12.3386	0.55081	0.0:0.9223:0.0:0.0777	.	322	Q6P1L5	F117B_HUMAN	S	78;322	.	ENSP00000306299:P78S	P	+	1	0	FAM117B	203328509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.729000	0.47327	2.554000	0.86153	0.655000	0.94253	CCT		0.398	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		9	132	0	0	0	1	0	9	132					T	203620264	C	T	203620264	3	4	260	1	0	0	0	0	1	0	0	0	5410	855	30	2	982	2	FAM117B	2	203620264	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	154894494	203620264	39579109	4	4552											
ABCA12	26154	broad.mit.edu	37	2	215819926	215819926	+	Splice_Site	SNP	C	C	T	rs200758693		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:215819926C>T	ENST00000272895.7	-	43	6612	c.6393G>A	c.(6391-6393)ccG>ccA	p.P2131P	ABCA12_ENST00000389661.4_Splice_Site_p.P1813P|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2131					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)		GGGACCTTACCGGATCATTAG	0.338													C|||	1	0.000199681	0	0	5008	,	,		19484	0		0.001	False		,,,				2504	0				Ovarian(66;664 1488 5121 34295)	uc002vew.3																			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.e43+1		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	61	58	59		5439,6393	3.2	1.0	2		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ABCA12	NM_015657.3,NM_173076.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1813/2278,2131/2596	215819926	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215819926C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6393+1G>A	2.37:g.215819926C>T			Somatic				ABCA12_uc002vev.3_Splice_Site_p.P1813_splice|ABCA12_uc010zjn.2_Splice_Site_p.P1058_splice	p.P2131_splice	NM_173076	NP_775099	WXS	Illumina GAIIx	Phase_I	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)	43	6613	-		Renal(323;0.127)	2131					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37	c.6393_splice	CCDS33372.1																																																																																				0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Silent	13	28	0	0	0	1	0	13	28					T	215819926	C	T	215819926	5	4	260	1	0	0	0	0	0	0	1	0	30	666	23	1	1438	1	ABCA12	2	215819926	Splice_Site	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	12199662	215819926	27379447	5	4553											
GPC1	2817	broad.mit.edu	37	2	241402796	241402796	+	Silent	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr2:241402796C>G	ENST00000264039.2	+	4	998	c.750C>G	c.(748-750)gtC>gtG	p.V250V		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	250					axon guidance (GO:0007411)|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)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CGAGAGCTGTCATGAAGCTGG	0.682																																						uc002vyw.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(748-750)gtC>gtG		Homo sapiens glypican 1 (GPC1), mRNA.							88	93	92					2																	241402796		2203	4300	6503	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241402796C>G	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.750C>G	2.37:g.241402796C>G			Somatic					p.V250V	NM_002081	NP_002072	WXS	Illumina GAIIx	Phase_I	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	3	971	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	250					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.750C>G	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.814|8.814	0.935910|0.935910	0.18206|0.18206	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000425056	.|.	.|.	.|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	.|.	.|.	.|.	.|.	T|.	0.68439|.	0.3001|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67883|.	-0.5555|.	4|.	.|.	.|.	.|.	-42.0036|-42.0036	13.7026|13.7026	0.62618|0.62618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	290|246	.|.	.|.	H|S	+|+	1|2	0|0	GPC1|GPC1	241051469|241051469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	1.307000|1.307000	0.33516|0.33516	2.176000|2.176000	0.68965|0.68965	0.484000|0.484000	0.47621|0.47621	CAT|TCA		0.682	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		9	78	0	0	0	1	0	9	78					G	241402796	C	G	241402796	2	3	260	1	0	0	0	0	0	0	0	1	6597	813	29	4		4	GPC1	2	241402796	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	25582870	241402796	1796577	6	4554											
ABHD6	57406	broad.mit.edu	37	3	58260481	58260481	+	Missense_Mutation	SNP	C	C	G	rs367601823		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:58260481C>G	ENST00000478253.1	+	7	1121	c.620C>G	c.(619-621)cCa>cGa	p.P207R	ABHD6_ENST00000295962.4_Missense_Mutation_p.P207R			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	207					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCGTCTACCCCAGAAGAGATG	0.542																																						uc003djs.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(619-621)cCa>cGa		Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.							139	135	137					3																	58260481		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58260481C>G	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.620C>G	3.37:g.58260481C>G	ENSP00000420315:p.Pro207Arg		Somatic				ABHD6_uc003djt.4_Missense_Mutation_p.P207R	p.P207R	NM_020676	NP_065727	WXS	Illumina GAIIx	Phase_I	Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	5	1030	+			207					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.620C>G	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060419	0.76074	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756	T;T;D	0.82526	-0.25;-0.25;-1.62	5.88	4.99	0.66335	.	0.262331	0.44097	D	0.000497	T	0.81288	0.4791	L	0.34521	1.04	0.37007	D	0.895558	P;P	0.51147	0.942;0.928	P;P	0.52159	0.691;0.543	T	0.79981	-0.1574	10	0.15499	T	0.54	-21.9342	15.952	0.79846	0.1361:0.8639:0.0:0.0	.	207;207	Q9BV23;F5H7L1	ABHD6_HUMAN;.	R	207	ENSP00000420315:P207R;ENSP00000295962:P207R;ENSP00000420408:P207R	ENSP00000295962:P207R	P	+	2	0	ABHD6	58235521	0.906000	0.30813	0.833000	0.33012	0.988000	0.76386	4.505000	0.60421	1.443000	0.47586	0.655000	0.94253	CCA		0.542	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		10	104	0	0	0	1	0	10	104					G	58260481	C	G	58260481	3	3	260	1	0	0	0	0	1	0	0	0	86	594	21	4	638	4	ABHD6	3	58260481	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		58260481	139761949	7	4555											
CHST2	9435	broad.mit.edu	37	3	142840198	142840198	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:142840198C>T	ENST00000309575.3	+	2	1924	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	180					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						CGTCGTTCTTCGGCGAGCTAT	0.622																																						uc003evm.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(538-540)ttC>ttT		Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.							38	47	44					3																	142840198		2203	4300	6503	SO:0001819	synonymous_variant	9435				N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840198C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.540C>T	3.37:g.142840198C>T			Somatic				CHST2_uc021xex.1_Silent_p.F180F	p.F180F	NM_004267	NP_004258	WXS	Illumina GAIIx	Phase_I	Q9Y4C5	CHST2_HUMAN			1	1479	+			180					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.540C>T	CCDS3129.1																																																																																				0.622	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		5	56	0	0	0	1	0	5	56					T	142840198	C	T	142840198	2	4	260	1	0	0	0	0	0	0	0	1	3404	883	31	1		1	CHST2	3	142840198	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	84579717	142840198	55182232	8	4556											
IL12A	3592	broad.mit.edu	37	3	159713292	159713292	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr3:159713292C>T	ENST00000305579.2	+	7	1015	c.708C>T	c.(706-708)ttC>ttT	p.F236F	IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Silent_p.F198F|IL12A-AS1_ENST00000462431.1_RNA|IL12A_ENST00000466512.1_Silent_p.F222F	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	202					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|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)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCATGCTTTCAGAATTCGGG	0.388																																						uc003fcx.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.(706-708)ttC>ttT		Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.							119	120	119					3																	159713292		2203	4300	6503	SO:0001819	synonymous_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159713292C>T	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"Interleukins and interleukin receptors"	5969	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor 1, 35 kD subunit", "cytotoxic lymphocyte maturation factor 1, p35", "interleukin 12, p35", "IL-12, subunit p35", "NF cell stimulatory factor chain 1", "interleukin-12 alpha chain", "IL35 subunit"	161560	"interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.708C>T	3.37:g.159713292C>T			Somatic				AK097161_uc003fcw.1_Intron	p.F236F	NM_000882	NP_000873	WXS	Illumina GAIIx	Phase_I	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		6	929	+			202					Q96QZ1	Silent	SNP	ENST00000305579.2	37	c.708C>T	CCDS3187.1																																																																																				0.388	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		8	97	0	0	0	1	0	8	97					T	159713292	C	T	159713292	2	4	260	1	0	0	0	0	0	0	0	1	7624	825	29	2		2	IL12A	3	159713292	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	16873094	159713292	38309138	9	4557											
FNIP2	57600	broad.mit.edu	37	4	159789776	159789776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr4:159789776C>G	ENST00000264433.6	+	13	2063	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.S686*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	663	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GATGGCTCTTCAAGACTTCCC	0.522																																						uc003iqe.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(1987-1989)tCa>tGa		Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.							32	37	35					4																	159789776		1930	4136	6066	SO:0001587	stop_gained	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789776C>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1988C>G	4.37:g.159789776C>G	ENSP00000264433:p.Ser663*		Somatic					p.S663*	NM_020840	NP_065891	WXS	Illumina GAIIx	Phase_I	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	2171	+	all_hematologic(180;0.24)		663			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Nonsense_Mutation	SNP	ENST00000264433.6	37	c.1988C>G	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432851	0.62844	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	.	.	.	5.54	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8409	0.05528	0.164:0.5308:0.1128:0.1924	.	.	.	.	X	663;686	.	.	S	+	2	0	FNIP2	160009226	0.000000	0.05858	0.007000	0.13788	0.029000	0.11900	0.068000	0.14531	0.579000	0.29504	0.655000	0.94253	TCA		0.522	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		4	19	0	0	0	1	0	4	19					G	159789776	C	G	159789776	4	3	260	1	0	0	0	0	0	1	0	0	5976	838	29	4	2038	4	FNIP2	4	159789776	Nonsense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		159789776	31364500	10	4558											
C5orf42	65250	broad.mit.edu	37	5	37173962	37173962	+	Silent	SNP	A	A	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:37173962A>C	ENST00000508244.1	-	31	6159	c.6066T>G	c.(6064-6066)gcT>gcG	p.A2022A	C5orf42_ENST00000274258.7_Silent_p.A902A|C5orf42_ENST00000425232.2_Silent_p.A2022A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2022						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGGTGTTGGAGCAGGTGGTT	0.423																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(6064-6066)gcT>gcG		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							145	138	141					5																	37173962		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37173962A>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6066T>G	5.37:g.37173962A>C			Somatic				C5orf42_uc011coy.1_Silent_p.A522A|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.A1097A|C5orf42_uc003jkr.1_Silent_p.A55A	p.A2022A	NM_023073	NP_075561	WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		31	6297	-	all_lung(31;0.000616)		2022					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.6066T>G	CCDS34146.2																																																																																				0.423	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		10	61	0	0	0	1	0	10	61					C	37173962	A	C	37173962	2	2	260	1	0	0	0	0	0	0	0	1	2301	291	11	5		5	C5orf42	5	37173962	Silent	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		37173962	143741298	11	4559											
ARAP3	64411	broad.mit.edu	37	5	141039378	141039378	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:141039378C>G	ENST00000239440.4	-	22	3300	c.3235G>C	c.(3235-3237)Gag>Cag	p.E1079Q	ARAP3_ENST00000508305.1_Missense_Mutation_p.E910Q|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.E741Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1079	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						TCAATGAGCTCTTGCAGCACT	0.567																																						uc003llm.3																			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.(3235-3237)Gag>Cag		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							72	66	68					5																	141039378		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|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|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr5:141039378C>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3235G>C	5.37:g.141039378C>G	ENSP00000239440:p.Glu1079Gln		Somatic				ARAP3_uc003lll.3_Missense_Mutation_p.E30Q|ARAP3_uc011dbe.2_Missense_Mutation_p.E741Q|ARAP3_uc003lln.3_Missense_Mutation_p.E910Q	p.E1079Q	NM_022481	NP_071926	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			21	3313	-			1079			Rho-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3235G>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727347	0.89390	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11169	2.8;2.8;2.8	5.19	5.19	0.71726	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.060418	0.64402	D	0.000008	T	0.15392	0.0371	N	0.14661	0.345	0.52501	D	0.999958	D;D;D	0.63880	0.979;0.981;0.993	P;P;P	0.55508	0.601;0.73;0.777	T	0.04870	-1.0921	10	0.72032	D	0.01	.	18.5136	0.90926	0.0:1.0:0.0:0.0	.	741;910;1079	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	910;1079;741	ENSP00000421826:E910Q;ENSP00000239440:E1079Q;ENSP00000421468:E741Q	ENSP00000239440:E1079Q	E	-	1	0	ARAP3	141019562	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.226000	0.78060	2.711000	0.92665	0.655000	0.94253	GAG		0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		3	19	0	0	0	1	0	3	19					G	141039378	C	G	141039378	3	3	260	1	0	0	0	0	1	0	0	0	840	922	32	4	1447	4	ARAP3	5	141039378	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	103865416	141039378	39875882	12	4560											
SYNPO	11346	broad.mit.edu	37	5	150036179	150036179	+	IGR	DEL	C	C	-			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr5:150036179delC	ENST00000394243.1	+	0	7063				SYNPO_ENST00000307662.4_Frame_Shift_Del_p.P749fs	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin						positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCGCGGCCCCCCAGCCG	0.756																																						uc003lsp.3																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2242-2244)cccfs		Homo sapiens synaptopodin (SYNPO), transcript variant 1, mRNA.							1	2	2					5																	150036179		1272	2886	4158	SO:0001628	intergenic_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150036179delC	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078		5.37:g.150036179delC			Somatic					p.P748fs	NM_007286	NP_009217	WXS	Illumina GAIIx	Phase_I	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2784	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	807					A5PKZ8|D3DQG8|O15271|Q9UPX1	Frame_Shift_Del	DEL	ENST00000394243.1	37	c.2242delC	CCDS54937.1																																																																																				0.756	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		2	4						2	4	---	---	---	---	-	150036179	C	-	150036179	6	5	260	0	1	1	0	1	0	0	0	0	15453	739	26	0		0	SYNPO	5	150036179	IGR	DEL	C	TCGA-EM-A2OZ-01A-11D-A202-08	8996801	150036179	30879081	13	4561											
NPC1L1	29881	broad.mit.edu	37	7	44575963	44575963	+	Silent	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:44575963C>T	ENST00000289547.4	-	4	1801	c.1746G>A	c.(1744-1746)ggG>ggA	p.G582G	NPC1L1_ENST00000423141.1_Silent_p.G582G|NPC1L1_ENST00000546276.1_Silent_p.G582G|NPC1L1_ENST00000381160.3_Silent_p.G582G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	582					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACGGGGGTCCCCGGCAGGGT	0.572																																						uc003tlb.3																			0		p.A581T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1744-1746)ggG>ggA		Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	Ezetimibe(DB00973)						67	72	70					7																	44575963		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575963C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1746G>A	7.37:g.44575963C>T			Somatic				NPC1L1_uc011kbw.2_Silent_p.G582G|NPC1L1_uc003tlc.3_Silent_p.G582G|NPC1L1_uc003tld.3_Silent_p.G582G	p.G582G	NM_013389	NP_037521	WXS	Illumina GAIIx	Phase_I	Q9UHC9	NPCL1_HUMAN			3	1802	-			582					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1746G>A	CCDS5491.1																																																																																				0.572	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		5	59	0	0	0	1	0	5	59					T	44575963	C	T	44575963	2	4	260	1	0	0	0	0	0	0	0	1	10571	610	22	2		2	NPC1L1	7	44575963	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		44575963	114562700	14	4562											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	56	0	0	0	1	0	23	56					T	140453136	A	T	140453136	3	4	260	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08	95877173	140453136	18685527	15	4563											
COL15A1	1306	broad.mit.edu	37	9	101749591	101749591	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr9:101749591C>T	ENST00000375001.3	+	4	1087	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	222	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTCCAGCAGCTCACCGTGCA	0.597																																						uc004azb.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(664-666)Ctc>Ttc		Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.							173	161	165					9																	101749591		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101749591C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.664C>T	9.37:g.101749591C>T	ENSP00000364140:p.Leu222Phe		Somatic					p.L222F	NM_001855	NP_001846	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			3	870	+		Acute lymphoblastic leukemia(62;0.0562)	222			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.664C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928872	0.52759	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.15952	2.38	5.11	3.96	0.45880	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.39937	0.1097	M	0.85859	2.78	0.41986	D	0.99082	D	0.89917	1.0	D	0.97110	1.0	T	0.25467	-1.0131	10	0.49607	T	0.09	-16.1305	6.4525	0.21912	0.0:0.8391:0.0:0.1609	.	222	P39059	COFA1_HUMAN	F	222;192	ENSP00000364140:L222F	ENSP00000364140:L222F	L	+	1	0	COL15A1	100789412	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.245000	0.51407	2.524000	0.85096	0.655000	0.94253	CTC		0.597	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		75	138	0	0	0	1	0	75	138					T	101749591	C	T	101749591	3	4	260	1	0	0	0	0	1	0	0	0	3672	797	28	2	678	2	COL15A1	9	101749591	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		101749591	39463840	16	4564											
DLG5	9231	broad.mit.edu	37	10	79593779	79593779	+	Silent	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:79593779C>G	ENST00000372391.2	-	9	1646	c.1641G>C	c.(1639-1641)ctG>ctC	p.L547L	DLG5_ENST00000372388.2_Silent_p.L547L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	547					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCCCGCCTCAGGTTGTCAC	0.632																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1639-1641)ctG>ctC		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							38	33	35					10																	79593779		2202	4300	6502	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79593779C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1641G>C	10.37:g.79593779C>G			Somatic				DLG5_uc001jzj.3_Silent_p.L302L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.L151L	p.L547L	NM_004747	NP_004738	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		8	1711	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		547					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.1641G>C	CCDS7353.2																																																																																				0.632	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			3	22	0	0	0	1	0	3	22					G	79593779	C	G	79593779	2	3	260	1	0	0	0	0	0	0	0	1	4558	813	29	4		4	DLG5	10	79593779	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		79593779	55940968	17	4565											
MGMT	4255	broad.mit.edu	37	10	131506231	131506231	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr10:131506231G>A	ENST00000306010.7	+	3	323	c.291G>A	c.(289-291)ctG>ctA	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	66					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CAGCCTGGCTGAATGCCTATT	0.602								Direct reversal of damage																														uc001lkh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(289-291)ctG>ctA	Direct reversal of damage	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.							97	98	97					10																	131506231		2203	4300	6503	SO:0001819	synonymous_variant	4255							g.chr10:131506231G>A	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.291G>A	10.37:g.131506231G>A			Somatic					p.L97L	NM_002412	NP_002403	WXS	Illumina GAIIx	Phase_I	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	2	317	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	97					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.291G>A	CCDS7660.2																																																																																				0.602	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		7	64	0	0	0	1	0	7	64					A	131506231	G	A	131506231	2	1	260	1	0	0	0	0	0	0	0	1	9557	1277	45	2		2	MGMT	10	131506231	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	51912452	131506231	4028516	18	4566											
FRY	10129	broad.mit.edu	37	13	32747677	32747677	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr13:32747677G>A	ENST00000380250.3	+	19	2821	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	775						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGCCCTGGGGCAGCCTGAGG	0.383																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2323-2325)ggG>ggA		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							130	125	126					13																	32747677		1874	4103	5977	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747677G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2325G>A	13.37:g.32747677G>A			Somatic				FRY_uc010tdw.2_Non-coding_Transcript	p.G775G	NM_023037	NP_075463	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2821	+		Lung SC(185;0.0271)	775					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.2325G>A	CCDS41875.1																																																																																				0.383	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		7	80	0	0	0	1	0	7	80					A	32747677	G	A	32747677	2	1	260	1	0	0	0	0	0	0	0	1	6063	1190	42	2		2	FRY	13	32747677	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		32747677	82422201	19	4567											
C14orf104	55172	broad.mit.edu	37	14	50100226	50100226	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:50100226G>A	ENST00000298292.8	-	1	1722	c.1642C>T	c.(1642-1644)Ctt>Ttt	p.L548F	DNAAF2_ENST00000406043.3_Missense_Mutation_p.L548F	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	548					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TCTCCTTGAAGACTTTGCGGC	0.458																																						uc001wws.4																			0				kidney(1)|lung(4)	5						c.(1642-1644)Ctt>Ttt		Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.							53	53	53					14																	50100226		2203	4300	6503	SO:0001583	missense	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50100226G>A	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1642C>T	14.37:g.50100226G>A	ENSP00000298292:p.Leu548Phe		Somatic				NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.L548F	p.L548F	NM_018139	NP_060609	WXS	Illumina GAIIx	Phase_I	Q9NVR5	KTU_HUMAN			0	1723	-			548					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.1642C>T	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	g	27.7	4.855948	0.91355	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.16196	2.36;2.36	5.27	5.27	0.74061	.	0.347351	0.20565	N	0.089833	T	0.32496	0.0831	L	0.29908	0.895	0.39181	D	0.962771	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.10337	-1.0634	10	0.87932	D	0	.	17.4878	0.87693	0.0:0.0:1.0:0.0	.	548;548	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	F	548	ENSP00000298292:L548F;ENSP00000384862:L548F	ENSP00000298292:L548F	L	-	1	0	DNAAF2	49169976	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.916000	0.28651	2.643000	0.89663	0.555000	0.69702	CTT		0.458	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			4	33	0	0	0	1	0	4	33					A	50100226	G	A	50100226	3	1	260	1	0	0	0	0	1	0	0	0	1736	942	33	2	883	2	C14orf104	14	50100226	Missense_Mutation	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		50100226	57249314	20	4568											
AHNAK2	113146	broad.mit.edu	37	14	105418953	105418953	+	Silent	SNP	C	C	G	rs538798371		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr14:105418953C>G	ENST00000333244.5	-	7	2954	c.2835G>C	c.(2833-2835)ctG>ctC	p.L945L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	945						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L945L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602																																						uc010axc.1																			1	Substitution - coding silent(1)	p.L945L(1)	lung(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2833-2835)ctG>ctC		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							137	159	152					14																	105418953		1873	4097	5970	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418953C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2835G>C	14.37:g.105418953C>G			Somatic				AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L845L	p.L945L	NM_138420	NP_612429	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	2955	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	945					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2835G>C	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		22	186	0	0	0	1	0	22	186					G	105418953	C	G	105418953	2	3	260	1	0	0	0	0	0	0	0	1	415	813	29	4		4	AHNAK2	14	105418953	Silent	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	55318727	105418953	1930587	21	4569											
SCG3	29106	broad.mit.edu	37	15	51984517	51984517	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr15:51984517G>A	ENST00000220478.3	+	7	1255	c.852G>A	c.(850-852)ctG>ctA	p.L284L	SCG3_ENST00000542355.2_Silent_p.L52L|RP11-313P18.2_ENST00000559918.1_lincRNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	284					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATGCGCTACTGAAAAGTATTG	0.383																																						uc002abh.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(850-852)ctG>ctA		Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.							87	90	89					15																	51984517		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51984517G>A	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.852G>A	15.37:g.51984517G>A			Somatic				SCG3_uc010ufz.2_Silent_p.L52L	p.L284L	NM_013243	NP_001158729	WXS	Illumina GAIIx	Phase_I	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	6	1255	+			284					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.852G>A	CCDS10142.1																																																																																				0.383	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		7	76	0	0	0	1	0	7	76					A	51984517	G	A	51984517	2	1	260	1	0	0	0	0	0	0	0	1	13892	1277	45	2		2	SCG3	15	51984517	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		51984517	50546875	22	4570											
RHOT2	89941	broad.mit.edu	37	16	720708	720708	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:720708A>G	ENST00000315082.4	+	9	688	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	192	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCTGACGCGCATCTTCAGGCT	0.682																																						uc002cip.3																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(574-576)Atc>Gtc		Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.							59	70	66					16																	720708		2201	4295	6496	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding	g.chr16:720708A>G	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"EF-hand domain containing"	21169	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 2"	613889	"chromosome 16 open reading frame 39", "ras homolog gene family, member T2"	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.574A>G	16.37:g.720708A>G	ENSP00000321971:p.Ile192Val		Somatic				RHOT2_uc002ciq.3_Missense_Mutation_p.I85V|RHOT2_uc010bqy.3_5'Flank	p.I192V	NM_138769	NP_620124	WXS	Illumina GAIIx	Phase_I	Q8IXI1	MIRO2_HUMAN			8	691	+		Hepatocellular(780;0.0218)	192			EF-hand 1.		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.574A>G	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947963	0.34377	.	.	ENSG00000140983	ENST00000315082	T	0.09723	2.95	4.81	3.72	0.42706	EF-hand-like domain (1);	0.045120	0.85682	N	0.000000	T	0.18759	0.0450	L	0.55017	1.72	0.50632	D	0.999883	P;P	0.46327	0.854;0.876	P;P	0.53593	0.73;0.463	T	0.00710	-1.1599	10	0.40728	T	0.16	-35.4721	9.4788	0.38889	0.9157:0.0:0.0843:0.0	.	65;192	Q8IXI1-2;Q8IXI1	.;MIRO2_HUMAN	V	192	ENSP00000321971:I192V	ENSP00000321971:I192V	I	+	1	0	RHOT2	660709	1.000000	0.71417	0.873000	0.34254	0.156000	0.22039	6.661000	0.74422	0.802000	0.34089	0.459000	0.35465	ATC		0.682	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		9	91	0	0	0	1	0	9	91					G	720708	A	G	720708	3	3	260	1	0	0	0	0	1	0	0	0	13344	217	8	3	608	3	RHOT2	16	720708	Missense_Mutation	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		720708	89634045	23	4571											
UQCRC2	7385	broad.mit.edu	37	16	21974204	21974204	+	Missense_Mutation	SNP	C	C	T	rs202168192		TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:21974204C>T	ENST00000268379.4	+	6	1276	c.512C>T	c.(511-513)aCt>aTt	p.T171I	UQCRC2_ENST00000561553.1_Missense_Mutation_p.T171I	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	171					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATCCGCAGACTCGTAAGTAC	0.373													C|||	1	0.000199681	8e-04	0	5008	,	,		17321	0		0	False		,,,				2504	0				Colon(123;450 1645 12841 25393 45623)	uc002djx.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(511-513)aCt>aTt		Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.							67	61	63					16																	21974204		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21974204C>T	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.512C>T	16.37:g.21974204C>T	ENSP00000268379:p.Thr171Ile		Somatic				UQCRC2_uc002djz.1_Missense_Mutation_p.T38I	p.T171I	NM_003366	NP_003357	WXS	Illumina GAIIx	Phase_I	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	5	648	+			171					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.512C>T	CCDS10601.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.864	0.528716	0.13127	.	.	ENSG00000140740	ENST00000268379	T	0.17370	2.28	4.88	4.88	0.63580	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.448650	0.25674	N	0.029058	T	0.08891	0.0220	N	0.10782	0.045	0.29738	N	0.837354	B	0.02656	0.0	B	0.06405	0.002	T	0.05084	-1.0907	10	0.45353	T	0.12	-4.9955	7.9365	0.29933	0.0:0.8236:0.0:0.1764	.	171	P22695	QCR2_HUMAN	I	171	ENSP00000268379:T171I	ENSP00000268379:T171I	T	+	2	0	UQCRC2	21881705	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.612000	0.54142	2.411000	0.81874	0.563000	0.77884	ACT		0.373	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		11	43	0	0	0	1	0	11	43					T	21974204	C	T	21974204	3	4	260	1	0	0	0	0	1	0	0	0	17017	565	20	2	534	2	UQCRC2	16	21974204	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	21253496	21974204	68380549	24	4572											
STX1B	112755	broad.mit.edu	37	16	31012260	31012260	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:31012260G>C	ENST00000215095.5	-	4	500	c.269C>G	c.(268-270)tCc>tGc	p.S90C	STX1B_ENST00000565419.1_Missense_Mutation_p.S90C	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	90					intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTTCAATTTGGACCGAACCTT	0.562																																						uc010cad.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						c.(268-270)tCc>tGc		Homo sapiens syntaxin 1B (STX1B), mRNA.							167	136	147					16																	31012260		2197	4300	6497	SO:0001583	missense	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity	g.chr16:31012260G>C	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"syntaxin 1B1", "syntaxin 1B2"	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.269C>G	16.37:g.31012260G>C	ENSP00000215095:p.Ser90Cys		Somatic				STX1B_uc010vfd.2_Missense_Mutation_p.S90C	p.S90C	NM_052874	NP_443106	WXS	Illumina GAIIx	Phase_I	P61266	STX1B_HUMAN			3	381	-			90					Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	c.269C>G	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756596	0.89843	.	.	ENSG00000099365	ENST00000215095	T	0.54479	0.57	4.61	4.61	0.57282	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.70275	2.135	0.80722	D	1	D;P	0.59357	0.985;0.918	P;P	0.56648	0.803;0.803	T	0.69476	-0.5135	10	0.49607	T	0.09	.	16.3478	0.83151	0.0:0.0:1.0:0.0	.	90;90	Q2VPS2;P61266	.;STX1B_HUMAN	C	90	ENSP00000215095:S90C	ENSP00000215095:S90C	S	-	2	0	STX1B	30919761	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.468000	0.53086	2.384000	0.81235	0.561000	0.74099	TCC		0.562	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			4	60	0	0	0	1	0	4	60					C	31012260	G	C	31012260	3	2	260	1	0	0	0	0	1	0	0	0	15343	1174	41	4	625	4	STX1B	16	31012260	Missense_Mutation	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	9038056	31012260	59342493	25	4573											
FTO	79068	broad.mit.edu	37	16	53968001	53968001	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:53968001G>A	ENST00000471389.1	+	8	1566	c.1344G>A	c.(1342-1344)ctG>ctA	p.L448L	FTO_ENST00000463855.1_Silent_p.L70L|FTO_ENST00000394647.3_Silent_p.L152L|FTO_ENST00000431610.2_Silent_p.L49L|FTO_ENST00000460382.1_Silent_p.L49L	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	448					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAACCTGAGGAGAGAAT	0.478																																						uc002ehr.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1342-1344)ctG>ctA		Homo sapiens fat mass and obesity associated (FTO), mRNA.							105	84	91					16																	53968001		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53968001G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1344G>A	16.37:g.53968001G>A			Somatic				FTO_uc010vha.2_Silent_p.L152L|FTO_uc010cbz.3_Silent_p.L49L|FTO_uc002ehs.3_Non-coding_Transcript	p.L448L	NM_001080432	NP_001073901	WXS	Illumina GAIIx	Phase_I	Q9C0B1	FTO_HUMAN			7	1566	+			448					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.1344G>A	CCDS32448.1																																																																																				0.478	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		7	39	0	0	0	1	0	7	39					A	53968001	G	A	53968001	2	1	260	1	0	0	0	0	0	0	0	1	6086	1277	45	2		2	FTO	16	53968001	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	22955741	53968001	36386752	26	4574											
CTCF	10664	broad.mit.edu	37	16	67663378	67663378	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr16:67663378G>C	ENST00000264010.4	+	10	2223	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	CTCF_ENST00000401394.1_Missense_Mutation_p.K265N	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	593					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAACGAAGAAGAGTAAACGTG	0.423																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.3																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1777-1779)aaG>aaC		Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.							170	155	160					16																	67663378		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663378G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1779G>C	16.37:g.67663378G>C	ENSP00000264010:p.Lys593Asn		Somatic				CTCF_uc010cek.3_Missense_Mutation_p.K265N|CTCF_uc002etm.1_Missense_Mutation_p.K82N	p.K593N	NM_006565	NP_001177951	WXS	Illumina GAIIx	Phase_I	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2223	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	593					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1779G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.908093	0.72868	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09630	2.96;3.01	5.54	0.861	0.19048	.	0.000000	0.64402	D	0.000002	T	0.09512	0.0234	N	0.24115	0.695	0.50632	D	0.999889	P;P	0.45531	0.86;0.608	P;B	0.46362	0.514;0.19	T	0.14587	-1.0467	10	0.45353	T	0.12	-4.7368	11.4115	0.49929	0.2948:0.0:0.7052:0.0	.	265;593	B5MC38;P49711	.;CTCF_HUMAN	N	593;265	ENSP00000264010:K593N;ENSP00000384707:K265N	ENSP00000264010:K593N	K	+	3	2	CTCF	66220879	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	0.506000	0.22658	0.320000	0.23234	0.313000	0.20887	AAG		0.423	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		4	50	0	0	0	1	0	4	50					C	67663378	G	C	67663378	3	2	260	1	0	0	0	0	1	0	0	0	4000	933	33	4	1809	4	CTCF	16	67663378	Missense_Mutation	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08	13695377	67663378	22691375	27	4575											
LYZL6	57151	broad.mit.edu	37	17	34264854	34264854	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr17:34264854C>G	ENST00000585556.1	-	3	540	c.206G>C	c.(205-207)aGc>aCc	p.S69T	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Missense_Mutation_p.S69T|LYZL6_ENST00000293274.4_Missense_Mutation_p.S69T			O75951	LYZL6_HUMAN	lysozyme-like 6	69					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAGTCAAAGCTTCCATCTGC	0.448																																						uc002hkj.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12						c.(205-207)aGc>aCc		Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.							107	104	105					17																	34264854		2203	4300	6503	SO:0001583	missense	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34264854C>G	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.206G>C	17.37:g.34264854C>G	ENSP00000468094:p.Ser69Thr		Somatic				LYZL6_uc002hkk.2_Missense_Mutation_p.S69T	p.S69T	NM_020426	NP_065159	WXS	Illumina GAIIx	Phase_I	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	406	-			69					Q6UW30	Missense_Mutation	SNP	ENST00000585556.1	37	c.206G>C	CCDS11302.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613436	0.46631	.	.	ENSG00000161572	ENST00000293274;ENST00000394523	T;T	0.55588	0.51;0.51	5.2	4.22	0.49857	Lysozyme-like domain (1);	0.297243	0.31279	N	0.007927	T	0.56352	0.1979	L	0.49513	1.565	0.36096	D	0.84377	P	0.40534	0.72	P	0.48524	0.58	T	0.67814	-0.5573	10	0.66056	D	0.02	-6.6305	12.3001	0.54870	0.0:0.83:0.17:0.0	.	69	O75951	LYZL6_HUMAN	T	69	ENSP00000293274:S69T;ENSP00000378031:S69T	ENSP00000293274:S69T	S	-	2	0	LYZL6	31288967	1.000000	0.71417	0.860000	0.33809	0.392000	0.30506	1.639000	0.37176	1.306000	0.44926	0.655000	0.94253	AGC		0.448	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		8	46	0	0	0	1	0	8	46					G	34264854	C	G	34264854	3	3	260	1	0	0	0	0	1	0	0	0	9134	797	28	4	252	4	LYZL6	17	34264854	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08		34264854	46930356	28	4576											
TMC2	117532	broad.mit.edu	37	20	2552906	2552906	+	Silent	SNP	G	G	A			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:2552906G>A	ENST00000358864.1	+	5	651	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	212	Arg/Asp/Glu/Lys-rich (highly charged).				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						ACAAGATGCTGATGGCCAAGG	0.517																																						uc002wgf.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.(634-636)ctG>ctA		Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.							100	92	94					20																	2552906		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2552906G>A	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.636G>A	20.37:g.2552906G>A			Somatic				TMC2_uc002wgg.1_Silent_p.L196L|TMC2_uc010zpw.1_Silent_p.L44L|TMC2_uc010zpx.1_Silent_p.L43L	p.L212L	NM_080751	NP_542789	WXS	Illumina GAIIx	Phase_I	Q8TDI7	TMC2_HUMAN			4	651	+			212			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.636G>A	CCDS13029.2																																																																																				0.517	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			5	46	0	0	0	1	0	5	46					A	2552906	G	A	2552906	2	1	260	1	0	0	0	0	0	0	0	1	15982	1277	45	2		2	TMC2	20	2552906	Silent	SNP	G	TCGA-EM-A2OZ-01A-11D-A202-08		2552906	60472614	29	4577											
PAK7	57144	broad.mit.edu	37	20	9624844	9624844	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chr20:9624844C>T	ENST00000378429.3	-	4	679	c.133G>A	c.(133-135)Gat>Aat	p.D45N	PAK7_ENST00000378423.1_Missense_Mutation_p.D45N|PAK7_ENST00000353224.5_Missense_Mutation_p.D45N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	45	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGGCCGTATCTGCTAACAGG	0.547																																						uc002wnl.2																			0		p.A44A(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(133-135)Gat>Aat		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.							130	118	122					20																	9624844		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9624844C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.133G>A	20.37:g.9624844C>T	ENSP00000367686:p.Asp45Asn		Somatic				PAK7_uc002wnk.2_Missense_Mutation_p.D45N|PAK7_uc002wnj.2_Missense_Mutation_p.D45N|PAK7_uc010gby.1_Missense_Mutation_p.D45N	p.D45N	NM_020341	NP_817127	WXS	Illumina GAIIx	Phase_I	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		3	678	-			45			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.133G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469034	0.84533	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	D;D;D	0.85955	-2.05;-2.05;-2.05	5.96	5.96	0.96718	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	N	0.12961	0.28	0.58432	D	0.999995	P;D	0.89917	0.884;1.0	B;D	0.91635	0.394;0.999	D	0.85120	0.0968	9	.	.	.	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	45;45	B0AZM9;Q9P286	.;PAK7_HUMAN	N	45	ENSP00000367686:D45N;ENSP00000322957:D45N;ENSP00000367679:D45N	.	D	-	1	0	PAK7	9572844	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	6.070000	0.71220	2.830000	0.97506	0.585000	0.79938	GAT		0.547	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			5	42	0	0	0	1	0	5	42					T	9624844	C	T	9624844	3	4	260	1	0	0	0	0	1	0	0	0	11405	913	32	2	2058	2	PAK7	20	9624844	Missense_Mutation	SNP	C	TCGA-EM-A2OZ-01A-11D-A202-08	7071938	9624844	53400676	30	4578											
ITIH5L	347365	broad.mit.edu	37	X	54784371	54784371	+	Silent	SNP	A	A	G			TCGA-EM-A2OZ-01A-11D-A202-08	TCGA-EM-A2OZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5abbd8f3-725b-4b0c-b40e-5d86f705e3ef	5d80ef8e-90bc-4f69-80ec-ff3aeb427f92	g.chrX:54784371A>G	ENST00000218436.6	-	8	2165	c.2136T>C	c.(2134-2136)gaT>gaC	p.D712D		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	712					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGGTGCCAGAATCCTGTTGTG	0.512																																						uc004dtj.2																			0											c.(2134-2136)gaT>gaC		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.							156	138	144					X																	54784371		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784371A>G	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2136T>C	X.37:g.54784371A>G			Somatic					p.D712D	NM_198510	NP_940912	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			7	2166	-			712					A6NN03	Silent	SNP	ENST00000218436.6	37	c.2136T>C	CCDS14361.1																																																																																				0.512	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	42	0	0	0	1	0	9	42					G	54784371	A	G	54784371	2	3	260	1	0	0	0	0	0	0	0	1	7908	98	4	3		3	ITIH5L	23	54784371	Silent	SNP	A	TCGA-EM-A2OZ-01A-11D-A202-08		54784371	100486189	31	4579											
ALDH1L1	10840	broad.mit.edu	37	3	125824683	125824683	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr3:125824683G>T	ENST00000393434.2	-	22	2888	c.2539C>A	c.(2539-2541)Ctg>Atg	p.L847M	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L847M|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L746M|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L857M	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	847	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTGACATACAGGGCCTTGTTG	0.552																																						uc003eim.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2539-2541)Ctg>Atg		Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	Tetrahydrofolic acid(DB00116)						179	168	172					3																	125824683		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824683G>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2539C>A	3.37:g.125824683G>T	ENSP00000377083:p.Leu847Met		Somatic				ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.L746M|ALDH1L1_uc003ein.1_Missense_Mutation_p.L382M	p.L847M	NM_012190	NP_036322	WXS	Illumina GAIIx	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	21	2729	-			847			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2539C>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677362	0.47886	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.53	3.63	0.41609	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000006	T	0.73628	0.3611	N	0.25245	0.725	0.80722	D	1	D;D;P	0.58620	0.966;0.983;0.91	P;D;P	0.64042	0.788;0.921;0.679	T	0.69687	-0.5078	10	0.29301	T	0.29	.	5.9005	0.18964	0.1012:0.0:0.7096:0.1892	.	746;382;847	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	M	857;847;746;847	ENSP00000273450:L857M;ENSP00000420293:L847M;ENSP00000395881:L746M;ENSP00000377083:L847M	ENSP00000273450:L857M	L	-	1	2	ALDH1L1	127307373	0.962000	0.33011	1.000000	0.80357	0.940000	0.58332	1.378000	0.34328	2.329000	0.79093	0.591000	0.81541	CTG		0.552	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	181	0	0	0	1	0	5	181					T	125824683	G	T	125824683	3	4	261	1	0	0	0	0	1	0	0	0	494	991	35	4	177	4	ALDH1L1	3	125824683	Missense_Mutation	SNP	G	TCGA-EM-A2P0-01A-11D-A202-08		125824683	72197747	1	4580											
DNAH8	1769	broad.mit.edu	37	6	38980292	38980292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr6:38980292G>A	ENST00000359357.3	+	89	13196	c.12942G>A	c.(12940-12942)tgG>tgA	p.W4314*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W4278*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4314					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						GAGTGTCTTGGGATTCGTCCA	0.413																																						uc021yzh.1																			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.(13591-13593)tgG>tgA		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							174	161	165					6																	38980292		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38980292G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12942G>A	6.37:g.38980292G>A	ENSP00000352312:p.Trp4314*		Somatic				DNAH8_uc003ooe.2_Nonsense_Mutation_p.W4314*	p.W4531*	NM_001206927	NP_001193856	WXS	Illumina GAIIx	Phase_I					90	13702	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.13593G>A		.	.	.	.	.	.	.	.	.	.	G	55	24.283645	0.99959	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5149	0.90933	0.0:0.0:1.0:0.0	.	.	.	.	X	4519;4314;4278	.	ENSP00000333363:W4519X	W	+	3	0	DNAH8	39088270	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.449000	0.73473	2.822000	0.97130	0.650000	0.86243	TGG		0.413	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	159	0	0	0	1	0	4	159					A	38980292	G	A	38980292	4	1	261	1	0	0	0	0	0	1	0	0	4607	1241	43	2	13288	2	DNAH8	6	38980292	Nonsense_Mutation	SNP	G	TCGA-EM-A2P0-01A-11D-A202-08		38980292	132134775	2	4581											
SYNE1	23345	broad.mit.edu	37	6	152737750	152737750	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr6:152737750C>A	ENST00000367255.5	-	41	6423	c.5822G>T	c.(5821-5823)aGc>aTc	p.S1941I	SYNE1_ENST00000448038.1_Missense_Mutation_p.S1948I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1978I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1941I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1948I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1941					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)		TTGCTCAGAGCTCCCGATTTT	0.498										HNSCC(10;0.0054)																												uc021zhb.1																			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.(5821-5823)aGc>aTc		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							113	110	111					6																	152737750		2203	4300	6503	SO:0001583	missense	23345				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	g.chr6:152737750C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5822G>T	6.37:g.152737750C>A	ENSP00000356224:p.Ser1941Ile	HNSCC(10;0.0054)	Somatic				SYNE1_uc003qot.4_Missense_Mutation_p.S1948I|SYNE1_uc003qou.4_Missense_Mutation_p.S1941I|SYNE1_uc010kjb.1_Missense_Mutation_p.S1924I	p.S1941I	NM_182961	NP_892006	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	38	6045	-		Ovarian(120;0.0955)	1941					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.5822G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386040	0.25031	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	6.17	5.26	0.73747	.	0.411950	0.25642	N	0.029266	T	0.10465	0.0256	N	0.16307	0.4	0.25777	N	0.984773	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.003	T	0.04885	-1.0920	10	0.33141	T	0.24	.	11.4061	0.49898	0.1303:0.657:0.2127:0.0	.	1924;1941;1941;1948	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	1941;1948;1941;1948;1978	ENSP00000356224:S1941I;ENSP00000396024:S1948I;ENSP00000265368:S1941I;ENSP00000390975:S1948I;ENSP00000341887:S1978I	ENSP00000265368:S1941I	S	-	2	0	SYNE1	152779443	0.000000	0.05858	0.192000	0.23308	0.997000	0.91878	0.473000	0.22132	2.941000	0.99782	0.655000	0.94253	AGC		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	112	0	0	0	1	0	4	112					A	152737750	C	A	152737750	3	1	261	1	0	0	0	0	1	0	0	0	15442	797	28	4	21068	4	SYNE1	6	152737750	Missense_Mutation	SNP	C	TCGA-EM-A2P0-01A-11D-A202-08	113757458	152737750	18377317	3	4582											
MUC17	140453	broad.mit.edu	37	7	100675605	100675605	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr7:100675605A>G	ENST00000306151.4	+	3	972	c.908A>G	c.(907-909)aAc>aGc	p.N303S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	303	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)					GCTGCCACCAACATTCCTGTG	0.493																																						uc003uxp.1																			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.(907-909)aAc>aGc		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							174	178	177					7																	100675605		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675605A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.908A>G	7.37:g.100675605A>G	ENSP00000302716:p.Asn303Ser		Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.N303S	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	961	+	Lung NSC(181;0.136)|all_lung(186;0.182)		303			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.908A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.644	-0.515603	0.04200	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	1.28	-1.54	0.08584	.	.	.	.	.	T	0.00998	0.0033	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46233	-0.9206	9	0.02654	T	1	.	4.9418	0.13969	0.204:0.2869:0.5091:0.0	.	303	Q685J3	MUC17_HUMAN	S	303	ENSP00000302716:N303S	ENSP00000302716:N303S	N	+	2	0	MUC17	100462325	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.609000	0.05635	-0.449000	0.07117	-0.686000	0.03744	AAC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		11	355	0	0	0	1	0	11	355					G	100675605	A	G	100675605	3	3	261	1	0	0	0	0	1	0	0	0	9974	43	2	3	918	3	MUC17	7	100675605	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08		100675605	58463058	4	4583											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	42	0	0	0	1	0	22	42					T	140453136	A	T	140453136	3	4	261	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08	39777531	140453136	18685527	5	4584											
NETO2	81831	broad.mit.edu	37	16	47117466	47117466	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr16:47117466A>C	ENST00000562435.1	-	9	1628	c.1244T>G	c.(1243-1245)tTg>tGg	p.L415W	NETO2_ENST00000303155.5_Missense_Mutation_p.L408W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	415					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTCTTCCGACAAGTCTGCCAG	0.517										HNSCC(25;0.065)																												uc002eer.2																			0		p.L415F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(1243-1245)tTg>tGg		Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.							78	78	78					16																	47117466		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47117466A>C	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1244T>G	16.37:g.47117466A>C	ENSP00000455169:p.Leu415Trp	HNSCC(25;0.065)	Somatic				NETO2_uc002eeq.2_Missense_Mutation_p.L150W|NETO2_uc010vgf.2_Missense_Mutation_p.L408W	p.L415W	NM_018092	NP_060562	WXS	Illumina GAIIx	Phase_I	Q8NC67	NETO2_HUMAN			8	1657	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	415					J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.1244T>G	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097474	0.56075	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.59436	1.845	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.78912	-0.2017	9	0.87932	D	0	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	272;415;91	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	W	415	.	ENSP00000306726:L415W	L	-	2	0	NETO2	45674967	1.000000	0.71417	0.798000	0.32154	0.096000	0.18686	9.326000	0.96389	2.220000	0.72140	0.533000	0.62120	TTG		0.517	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		3	145	0	0	0	1	0	3	145					C	47117466	A	C	47117466	3	2	261	1	0	0	0	0	1	0	0	0	10340	131	5	5	337	5	NETO2	16	47117466	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08		47117466	43237287	6	4585											
ZFHX3	463	broad.mit.edu	37	16	72829160	72829160	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2P0-01A-11D-A202-08	TCGA-EM-A2P0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c54088d-e00c-470f-af79-71c1dae9b4d6	1de7e8e6-34d9-405f-91f0-94ca4b582450	g.chr16:72829160A>C	ENST00000268489.5	-	9	8093	c.7421T>G	c.(7420-7422)cTg>cGg	p.L2474R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1560R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2474					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)				CAGGGACACCAGCTGGGGGAG	0.617																																						uc002fck.3																			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.(7420-7422)cTg>cGg		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							99	88	92					16																	72829160		2198	4300	6498	SO:0001583	missense	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.chr16:72829160A>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7421T>G	16.37:g.72829160A>C	ENSP00000268489:p.Leu2474Arg		Somatic				ZFHX3_uc002fcl.3_Missense_Mutation_p.L1560R	p.L2474R	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			8	8094	-		Ovarian(137;0.13)	2474					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7421T>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	3.015	-0.203008	0.06219	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73152	-0.72;-0.72	5.64	4.52	0.55395	.	0.195649	0.24674	N	0.036528	T	0.48429	0.1499	N	0.08118	0	0.28204	N	0.927213	P	0.44877	0.845	B	0.41860	0.368	T	0.39418	-0.9615	10	0.16420	T	0.52	.	9.8347	0.40963	0.921:0.0:0.079:0.0	.	2474	Q15911	ZFHX3_HUMAN	R	2474;1560	ENSP00000268489:L2474R;ENSP00000438926:L1560R	ENSP00000268489:L2474R	L	-	2	0	ZFHX3	71386661	1.000000	0.71417	0.967000	0.41034	0.081000	0.17604	3.924000	0.56476	0.919000	0.36945	0.459000	0.35465	CTG		0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	84	0	0	0	1	0	4	84					C	72829160	A	C	72829160	3	2	261	1	0	0	0	0	1	0	0	0	17631	188	7	5	3698	5	ZFHX3	16	72829160	Missense_Mutation	SNP	A	TCGA-EM-A2P0-01A-11D-A202-08	25711694	72829160	17525593	7	4586											
CSMD2	114784	broad.mit.edu	37	1	34128590	34128590	+	Silent	SNP	C	C	T	rs115110975	byFrequency	TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr1:34128590C>T	ENST00000373380.1	-	5	994	c.774G>A	c.(772-774)ccG>ccA	p.P258P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1385P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1345	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1346S(1)|p.P1345P(1)		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)				TGGGCAGGGCCGGGCCACTCA	0.572													C|||	7	0.00139776	0.0053	0	5008	,	,		20700	0		0	False		,,,				2504	0					uc001bxm.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.A1346S(1)|p.P1345P(1)	lung(2)	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.(4153-4155)ccG>ccA		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.		C		16,4390	23.3+/-48.9	0,16,2187	98	91	93		4035	-11.3	0.0	1	dbSNP_133	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CSMD2	NM_052896.3		0,17,6486	TT,TC,CC		0.0116,0.3631,0.1307		1345/3488	34128590	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34128590C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.774G>A	1.37:g.34128590C>T			Somatic				CSMD2_uc001bxn.1_Silent_p.P1345P|CSMD2_uc001bxo.1_Silent_p.P258P	p.P1385P	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			25	4332	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1345			Sushi 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.4155G>A																																																																																					0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		7	102	0	0	0	1	0	7	102					T	34128590	C	T	34128590	2	4	262	1	0	0	0	0	0	0	0	1	3945	639	23	1		1	CSMD2	1	34128590	Silent	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		34128590	215122031	1	4587											
OTX1	5013	broad.mit.edu	37	2	63283329	63283329	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr2:63283329G>A	ENST00000282549.2	+	5	1219	c.943G>A	c.(943-945)Gac>Aac	p.D315N	OTX1_ENST00000366671.3_Missense_Mutation_p.D315N	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAACTCTGCCGACTGCTTGGA	0.607																																						uc021vim.1																			0		p.D315E(1)|p.A314A(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(943-945)Gac>Aac		Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.							83	66	72					2																	63283329		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283329G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.943G>A	2.37:g.63283329G>A	ENSP00000282549:p.Asp315Asn		Somatic				OTX1_uc002scd.3_Missense_Mutation_p.D315N|OTX1_uc010ypt.2_Missense_Mutation_p.D249N	p.D315N	NM_001199770	NP_001186699	WXS	Illumina GAIIx	Phase_I	P32242	OTX1_HUMAN			4	1219	+	Lung NSC(7;0.121)|all_lung(7;0.211)		315					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.943G>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509000	0.85282	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.93426	-3.22;-3.22	4.43	3.53	0.40419	.	0.055730	0.64402	D	0.000002	D	0.88808	0.6537	L	0.52905	1.665	0.53688	D	0.999974	P	0.35551	0.509	B	0.24394	0.053	D	0.89466	0.3740	10	0.72032	D	0.01	.	11.0236	0.47732	0.0946:0.0:0.9054:0.0	.	315	P32242	OTX1_HUMAN	N	315	ENSP00000355631:D315N;ENSP00000282549:D315N	ENSP00000282549:D315N	D	+	1	0	OTX1	63136833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.610000	0.74178	2.163000	0.67991	0.561000	0.74099	GAC		0.607	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			15	70	0	0	0	1	0	15	70					A	63283329	G	A	63283329	3	1	262	1	0	0	0	0	1	0	0	0	11320	1058	37	1	953	1	OTX1	2	63283329	Missense_Mutation	SNP	G	TCGA-EM-A2P1-01A-11D-A202-08		63283329	179916044	2	4588											
XRN1	54464	broad.mit.edu	37	3	142037638	142037638	+	Silent	SNP	T	T	C			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr3:142037638T>C	ENST00000264951.4	-	38	4626	c.4509A>G	c.(4507-4509)caA>caG	p.Q1503Q	XRN1_ENST00000392981.2_Silent_p.Q1504Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1503					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)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTACCAACTGTTGTAAAGCAA	0.363																																						uc003eus.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(4507-4509)caA>caG		Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.							93	90	91					3																	142037638		2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding	g.chr3:142037638T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4509A>G	3.37:g.142037638T>C			Somatic				XRN1_uc010huu.3_Silent_p.Q970Q|XRN1_uc003eut.3_Silent_p.Q1503Q|XRN1_uc003euu.3_Silent_p.Q1504Q	p.Q1503Q	NM_019001	NP_061874	WXS	Illumina GAIIx	Phase_I	Q8IZH2	XRN1_HUMAN			37	4576	-			1503					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.4509A>G	CCDS3123.1																																																																																				0.363	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	52	0	0	0	1	0	5	52					C	142037638	T	C	142037638	2	2	262	1	0	0	0	0	0	0	0	1	17456	1722	60	3		3	XRN1	3	142037638	Silent	SNP	T	TCGA-EM-A2P1-01A-11D-A202-08		142037638	55984792	3	4589											
BAT2	7916	broad.mit.edu	37	6	31599848	31599848	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr6:31599848C>T	ENST00000376033.2	+	16	3632	c.3398C>T	c.(3397-3399)aCc>aTc	p.T1133I	PRRC2A_ENST00000376007.4_Missense_Mutation_p.T1133I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1133	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)			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						GGAACACTCACCCAGGTCCCT	0.672																																						uc003nvb.4																			0				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.(3397-3399)aCc>aTc		Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.							39	51	47					6																	31599848		1508	2709	4217	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599848C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3398C>T	6.37:g.31599848C>T	ENSP00000365201:p.Thr1133Ile		Somatic				PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.T1133I	p.T1133I	NM_080686	NP_542417	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			15	3647	+			1133			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.3398C>T	CCDS4708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.650|1.650	-0.514288|-0.514288	0.04200|0.04200	.|.	.|.	ENSG00000204469|ENSG00000204469	ENST00000424184;ENST00000435052|ENST00000376007;ENST00000376033;ENST00000376010	.|T;T	.|0.01647	.|4.71;4.71	5.29|5.29	4.42|4.42	0.53409|0.53409	.|.	.|0.693290	.|0.13762	.|N	.|0.364549	T|T	0.00580|0.00580	0.0019|0.0019	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.19583	.|0.037	.|B	.|0.18263	.|0.021	T|T	0.51204|0.51204	-0.8735|-0.8735	6|10	0.87932|0.87932	D|D	0|0	0.0014|0.0014	14.2171|14.2171	0.65800|0.65800	0.0:0.7167:0.2833:0.0|0.0:0.7167:0.2833:0.0	.|.	.|1133	.|P48634	.|PRC2A_HUMAN	S|I	1132;1121|1133;1133;358	.|ENSP00000365175:T1133I;ENSP00000365201:T1133I	ENSP00000407986:P1132S|ENSP00000365175:T1133I	P|T	+|+	1|2	0|0	PRRC2A|PRRC2A	31707827|31707827	0.012000|0.012000	0.17670|0.17670	0.017000|0.017000	0.16124|0.16124	0.389000|0.389000	0.30415|0.30415	1.572000|1.572000	0.36461|0.36461	1.446000|1.446000	0.47643|0.47643	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	104	0	0	0	1	0	8	104					T	31599848	C	T	31599848	3	4	262	1	0	0	0	0	1	0	0	0	1319	507	18	2	3456	2	BAT2	6	31599848	Missense_Mutation	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		31599848	139515219	4	4590											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		9	54	0	0	0	1	0	9	54					T	140453136	A	T	140453136	3	4	262	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P1-01A-11D-A202-08		140453136	18685527	5	4591											
FCGRT	2217	broad.mit.edu	37	19	50017183	50017183	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr19:50017183C>G	ENST00000221466.5	+	3	604	c.118C>G	c.(118-120)Cct>Gct	p.P40A	FCGRT_ENST00000596975.1_Missense_Mutation_p.P40A|FCGRT_ENST00000426395.3_Missense_Mutation_p.P40A|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	40	Alpha-1.				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)		GGTGTCCTCGCCTGCCCCGGG	0.657																																						uc002poe.2																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(118-120)Cct>Gct		Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 1, mRNA.							120	120	120					19																	50017183		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity	g.chr19:50017183C>G	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.118C>G	19.37:g.50017183C>G	ENSP00000221466:p.Pro40Ala		Somatic				FCGRT_uc002pog.2_Missense_Mutation_p.P40A|FCGRT_uc002pof.2_5'UTR|FCGRT_uc010yax.2_Missense_Mutation_p.P40A|FCGRT_uc002poh.2_5'Flank	p.P40A	NM_001136019	NP_004098	WXS	Illumina GAIIx	Phase_I	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	2	604	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	40			Alpha-1.		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.118C>G	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674899	0.29783	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.00840	5.63;5.63	4.6	-0.698	0.11280	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.460721	0.16474	N	0.212836	T	0.01592	0.0051	M	0.85299	2.745	0.09310	N	1	B	0.25007	0.116	B	0.20384	0.029	T	0.35001	-0.9806	10	0.87932	D	0	.	4.7945	0.13265	0.0:0.4176:0.3718:0.2106	.	40	P55899	FCGRN_HUMAN	A	40	ENSP00000221466:P40A;ENSP00000410798:P40A	ENSP00000221466:P40A	P	+	1	0	FCGRT	54708995	0.009000	0.17119	0.000000	0.03702	0.100000	0.18952	0.817000	0.27281	0.140000	0.18849	0.555000	0.69702	CCT		0.657	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			49	212	0	0	0	1	0	49	212					G	50017183	C	G	50017183	3	3	262	1	0	0	0	0	1	0	0	0	5786	739	26	4	124	4	FCGRT	19	50017183	Missense_Mutation	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		50017183	9111800	6	4592											
GRAMD4	23151	broad.mit.edu	37	22	47059056	47059056	+	Silent	SNP	C	C	T	rs145387351		TCGA-EM-A2P1-01A-11D-A202-08	TCGA-EM-A2P1-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6655200-75a5-4c42-8360-5b6d42f24775	019e120c-aefd-4aa7-a80f-6aa6fea09969	g.chr22:47059056C>T	ENST00000406902.1	+	6	799	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	GRAMD4_ENST00000361034.3_Silent_p.L196L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	196					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGAGGAACCCCTGAGCGCCCG	0.657																																						uc003bhx.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(586-588)Ctg>Ttg		Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.		C		0,4406		0,0,2203	49	56	54		586	4.8	1.0	22	dbSNP_134	54	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	GRAMD4	NM_015124.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		196/579	47059056	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47059056C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.586C>T	22.37:g.47059056C>T			Somatic				GRAMD4_uc010had.3_Silent_p.L135L	p.L196L	NM_015124	NP_055939	WXS	Illumina GAIIx	Phase_I	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	4	635	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	196					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.586C>T	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	C	6.902	0.535893	0.13188	0.0	2.33E-4	ENSG00000075240	ENST00000456069	T	0.45668	0.89	4.77	4.77	0.60923	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	5	.	.	.	-39.0416	16.1456	0.81563	0.0:1.0:0.0:0.0	.	.	.	.	L	18	ENSP00000397501:P18L	.	P	+	2	0	GRAMD4	45437720	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.940000	0.56599	2.602000	0.87976	0.558000	0.71614	CCT		0.657	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		23	102	0	0	0	1	0	23	102					T	47059056	C	T	47059056	2	4	262	1	0	0	0	0	0	0	0	1	6752	680	24	2		2	GRAMD4	22	47059056	Silent	SNP	C	TCGA-EM-A2P1-01A-11D-A202-08		47059056	4245510	7	4593											
COL9A2	1298	broad.mit.edu	37	1	40767021	40767021	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:40767021C>T	ENST00000372748.3	-	32	1999	c.1903G>A	c.(1903-1905)Ggc>Agc	p.G635S	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	635	Triple-helical region 1 (COL1).				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)			CCATCCTTGCCGTTGATTGCC	0.637																																						uc001cfh.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1903-1905)Ggc>Agc		Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.							22	28	26					1																	40767021		2197	4300	6497	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40767021C>T	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1903G>A	1.37:g.40767021C>T	ENSP00000361834:p.Gly635Ser		Somatic				COL9A2_uc001cfi.1_Missense_Mutation_p.G454S	p.G635S	NM_001852	NP_001843	WXS	Illumina GAIIx	Phase_I	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		31	2015	-	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)	635			Triple-helical region 1 (COL1).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1903G>A	CCDS450.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258623	0.95368	.	.	ENSG00000049089	ENST00000372748	D	0.97378	-4.36	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99433	1.0936	10	0.87932	D	0	.	16.2802	0.82672	0.0:1.0:0.0:0.0	.	635	Q14055	CO9A2_HUMAN	S	635	ENSP00000361834:G635S	ENSP00000361834:G635S	G	-	1	0	COL9A2	40539608	1.000000	0.71417	0.935000	0.37517	0.878000	0.50629	7.033000	0.76504	2.708000	0.92522	0.655000	0.94253	GGC		0.637	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		7	27	0	0	0	1	0	7	27					T	40767021	C	T	40767021	3	4	263	1	0	0	0	0	1	0	0	0	3708	652	23	1	170	1	COL9A2	1	40767021	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		40767021	208483600	1	4594											
GSTM3	2947	broad.mit.edu	37	1	110280288	110280288	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:110280288G>A	ENST00000540225.1	-	7	768	c.458C>T	c.(457-459)gCc>gTc	p.A153V	GSTM3_ENST00000361066.2_Missense_Mutation_p.A153V|GSTM3_ENST00000256594.3_Missense_Mutation_p.A153V|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	153	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	CTTTTCCCCGGCAAACCATGA	0.433																																						uc001dyo.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(457-459)gCc>gTc		Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	Glutathione(DB00143)						126	145	138					1																	110280288		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280288G>A	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"Glutathione S-transferases / Soluble"	4635	protein-coding gene	gene with protein product		138390	"glutathione S-transferase M3 (brain)"			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.458C>T	1.37:g.110280288G>A	ENSP00000444978:p.Ala153Val		Somatic				GSTM3_uc001dyp.2_Missense_Mutation_p.A150V|GSTM3_uc010ovv.2_Missense_Mutation_p.A153V	p.A153V	NM_000849	NP_000840	WXS	Illumina GAIIx	Phase_I	P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	6	768	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	153			GST C-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.458C>T	CCDS812.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153126	0.78001	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.01725	4.67;4.67;4.67	5.53	5.53	0.82687	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01661	0.0053	L	0.39326	1.205	0.80722	D	1	B;P;B	0.42248	0.313;0.774;0.313	B;B;B	0.43194	0.09;0.411;0.09	T	0.67260	-0.5715	10	0.48119	T	0.1	2.0E-4	18.4034	0.90525	0.0:0.0:1.0:0.0	.	153;159;153	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	V	153	ENSP00000444978:A153V;ENSP00000256594:A153V;ENSP00000354357:A153V	ENSP00000256594:A153V	A	-	2	0	GSTM3	110081811	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.936000	0.75892	2.871000	0.98454	0.655000	0.94253	GCC		0.433	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		5	255	0	0	0	1	0	5	255					A	110280288	G	A	110280288	3	1	263	1	0	0	0	0	1	0	0	0	6839	1203	42	2	231	2	GSTM3	1	110280288	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	69513267	110280288	138970333	2	4595											
TNN	63923	broad.mit.edu	37	1	175048656	175048656	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr1:175048656delC	ENST00000239462.4	+	3	710	c.597delC	c.(595-597)tacfs	p.Y199fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	199	EGF-like 2.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGCGGCTACCCGGCCTGCC	0.716																																						uc001gkl.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(595-597)tacfs		Homo sapiens tenascin N (TNN), mRNA.							11	11	11					1																	175048656		2136	4205	6341	SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048656delC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.597delC	1.37:g.175048656delC	ENSP00000239462:p.Tyr199fs		Somatic				TNN_uc010pmx.1_Frame_Shift_Del_p.Y199fs	p.Y199fs	NM_022093	NP_071376	WXS	Illumina GAIIx	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	710	+		Breast(1374;0.000962)	199			EGF-like 2.		B9EGP3|Q5R360	Frame_Shift_Del	DEL	ENST00000239462.4	37	c.597delC	CCDS30943.1																																																																																				0.716	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		2	4						2	4	---	---	---	---	-	175048656	C	-	175048656	7	5	263	1	0	1	0	1	0	0	0	0	16320	518	18	0	603	0	TNN	1	175048656	Frame_Shift_Del	DEL	C	TCGA-EM-A2P2-01A-11D-A202-08	64768368	175048656	74201965	3	4596											
EPCAM	4072	broad.mit.edu	37	2	47596655	47596655	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr2:47596655C>T	ENST00000263735.4	+	1	369	c.11C>T	c.(10-12)cCg>cTg	p.P4L	EPCAM_ENST00000405271.1_Intron	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	4					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATGGCGCCCCCGCAGGTCCTC	0.741																																						uc002rvx.3																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(10-12)cCg>cTg		Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA.							5	6	6					2																	47596655		2013	4103	6116	SO:0001583	missense	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47596655C>T	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"CD molecules"	11529	protein-coding gene	gene with protein product		185535	"antigen identified by monoclonal antibody AUA1", "tumor-associated calcium signal transducer 1"	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.11C>T	2.37:g.47596655C>T	ENSP00000263735:p.Pro4Leu		Somatic					p.P4L	NM_002354	NP_002345	WXS	Illumina GAIIx	Phase_I	P16422	EPCAM_HUMAN			0	369	+			4					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.11C>T	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	c	7.618	0.676140	0.14841	.	.	ENSG00000119888	ENST00000263735;ENST00000419334	T;D	0.85013	-0.77;-1.93	3.97	1.17	0.20885	.	0.616838	0.15894	N	0.239396	T	0.73938	0.3651	L	0.46157	1.445	0.19300	N	0.999978	B	0.15719	0.014	B	0.06405	0.002	T	0.53669	-0.8406	10	0.07813	T	0.8	.	5.8814	0.18858	0.0:0.6529:0.0:0.3471	.	4	P16422	EPCAM_HUMAN	L	4	ENSP00000263735:P4L;ENSP00000389028:P4L	ENSP00000263735:P4L	P	+	2	0	EPCAM	47450159	0.006000	0.16342	0.214000	0.23707	0.133000	0.20885	0.236000	0.17967	0.042000	0.15717	-0.318000	0.08688	CCG		0.741	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			2	1	0	0	0	1	0	2	1					T	47596655	C	T	47596655	3	4	263	1	0	0	0	0	1	0	0	0	5162	652	23	1	13	1	EPCAM	2	47596655	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		47596655	195602718	4	4597											
ALG3	10195	broad.mit.edu	37	3	183963511	183963511	+	Missense_Mutation	SNP	C	C	T	rs367679074		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr3:183963511C>T	ENST00000397676.3	-	2	316	c.286G>A	c.(286-288)Gga>Aga	p.G96R	ALG3_ENST00000445626.2_Missense_Mutation_p.G48R|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000455059.1_Missense_Mutation_p.G56R|ALG3_ENST00000418734.2_Intron|EIF2B5_ENST00000444495.1_Intron	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	96					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAAGTGGTCCGGTGTCACCC	0.522																																						uc003fne.2																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(286-288)Gga>Aga		Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.		C	ARG/GLY,ARG/GLY	0,4158		0,0,2079	96	97	96		142,286	4.9	1.0	3		96	1,8401		0,1,4200	no	missense,missense	ALG3	NM_001006941.2,NM_005787.5	125,125	0,1,6279	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	48/391,96/439	183963511	1,12559	2079	4201	6280	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183963511C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	23056	protein-coding gene	gene with protein product	"carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase"	608750	"asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.286G>A	3.37:g.183963511C>T	ENSP00000380793:p.Gly96Arg		Somatic				ALG3_uc011brc.1_Missense_Mutation_p.G61R|ALG3_uc011brd.1_Intron|ALG3_uc011bre.1_Missense_Mutation_p.G48R|ALG3_uc011brf.1_Intron	p.G96R	NM_005787	NP_005778	WXS	Illumina GAIIx	Phase_I	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	317	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		96					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.286G>A	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458059	0.84317	0.0	1.19E-4	ENSG00000214160	ENST00000397676;ENST00000445626;ENST00000455059	D;D;D	0.94000	-3.33;-3.33;-3.33	4.93	4.93	0.64822	.	0.000000	0.85682	U	0.000000	D	0.97711	0.9249	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.942;0.995;0.983	D	0.98821	1.0747	10	0.87932	D	0	-2.1164	16.8688	0.86036	0.0:1.0:0.0:0.0	.	48;56;96	A8JZZ6;C9J7S5;Q92685	.;.;ALG3_HUMAN	R	96;48;56	ENSP00000380793:G96R;ENSP00000402744:G48R;ENSP00000397613:G56R	ENSP00000380793:G96R	G	-	1	0	ALG3	185446205	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.531000	0.81973	2.562000	0.86427	0.462000	0.41574	GGA		0.522	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		19	24	0	0	0	1	0	19	24					T	183963511	C	T	183963511	3	4	263	1	0	0	0	0	1	0	0	0	520	661	23	1	1062	1	ALG3	3	183963511	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		183963511	14058919	5	4598											
SPON2	10417	broad.mit.edu	37	4	1165191	1165191	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:1165191C>T	ENST00000290902.5	-	3	636	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SPON2_ENST00000431380.1_Missense_Mutation_p.E102K	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	102	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701																																						uc021xkj.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(304-306)Gag>Aag		Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 3, mRNA.							24	27	26					4																	1165191		2183	4267	6450	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165191C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.304G>A	4.37:g.1165191C>T	ENSP00000290902:p.Glu102Lys		Somatic				SPON2_uc003gco.4_Missense_Mutation_p.E102K|SPON2_uc010ibr.3_Missense_Mutation_p.E102K|SPON2_uc003gcm.1_Missense_Mutation_p.E20K	p.E102K	NM_001199021	NP_001185950	WXS	Illumina GAIIx	Phase_I	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	4	929	-			102			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.304G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847839	0.51164	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.43294	0.95;0.95;0.95	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	L	0.51422	1.61	0.80722	D	1	P;D;D	0.67145	0.726;0.993;0.996	B;B;P	0.49597	0.223;0.365;0.616	T	0.32640	-0.9899	10	0.16420	T	0.52	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	102;102;102	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	K	102	ENSP00000290902:E102K;ENSP00000394832:E102K;ENSP00000424542:E102K	ENSP00000290902:E102K	E	-	1	0	SPON2	1155191	1.000000	0.71417	0.974000	0.42286	0.111000	0.19643	7.011000	0.76359	2.053000	0.61076	0.511000	0.50034	GAG		0.701	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			16	74	0	0	0	1	0	16	74					T	1165191	C	T	1165191	3	4	263	1	0	0	0	0	1	0	0	0	15082	893	31	1	707	1	SPON2	4	1165191	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		1165191	189989085	6	4599											
LNX1	84708	broad.mit.edu	37	4	54440038	54440038	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:54440038G>C	ENST00000263925.7	-	2	446	c.132C>G	c.(130-132)tgC>tgG	p.C44W	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	44					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAGCCTGCAGGCAGATGTGGC	0.567																																						uc003hag.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(130-132)tgC>tgG		Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.							43	40	40					4																	54440038		1568	3582	5150	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54440038G>C	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.132C>G	4.37:g.54440038G>C	ENSP00000263925:p.Cys44Trp		Somatic				PDGFRA_uc003haa.3_Intron|LNX1_uc003hah.4_Non-coding_Transcript	p.C44W	NM_001126328	NP_001119800	WXS	Illumina GAIIx	Phase_I	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	388	-	all_neural(26;0.153)		44					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.132C>G	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178195	0.57692	.	.	ENSG00000072201	ENST00000263925;ENST00000513421;ENST00000510143;ENST00000512247	D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43	5.98	2.88	0.33553	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97490	1.0053	10	0.87932	D	0	.	12.0885	0.53710	0.2665:0.0:0.7335:0.0	.	44	Q8TBB1	LNX1_HUMAN	W	44	ENSP00000263925:C44W;ENSP00000426445:C44W;ENSP00000421897:C44W;ENSP00000424364:C44W	ENSP00000263925:C44W	C	-	3	2	LNX1	54134795	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.890000	0.48609	0.847000	0.35167	0.591000	0.81541	TGC		0.567	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			5	30	0	0	0	1	0	5	30					C	54440038	G	C	54440038	3	2	263	1	0	0	0	0	1	0	0	0	8865	1195	42	4	2190	4	LNX1	4	54440038	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	53274847	54440038	136714238	7	4600											
TBCK	93627	broad.mit.edu	37	4	107216253	107216253	+	Silent	SNP	C	C	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr4:107216253C>T	ENST00000273980.5	-	4	711	c.264G>A	c.(262-264)gtG>gtA	p.V88V	TBCK_ENST00000394706.3_Silent_p.V88V|TBCK_ENST00000432496.2_Silent_p.V88V|TBCK_ENST00000361687.4_Silent_p.V88V|TBCK_ENST00000394708.2_Silent_p.V88V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACAGTACCTCACAGGTTTCC	0.383																																						uc010ilv.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(262-264)gtG>gtA		Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.							116	116	116					4																	107216253		2203	4300	6503	SO:0001819	synonymous_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107216253C>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.264G>A	4.37:g.107216253C>T			Somatic				TBCK_uc003hye.2_Silent_p.V88V|TBCK_uc003hyc.2_Silent_p.V88V|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Silent_p.V88V	p.V88V	NM_001163435	NP_001156908	WXS	Illumina GAIIx	Phase_I	Q8TEA7	TBCK_HUMAN			2	629	-			88			Protein kinase.			Silent	SNP	ENST00000273980.5	37	c.264G>A	CCDS54788.1																																																																																				0.383	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		42	71	0	0	0	1	0	42	71					T	107216253	C	T	107216253	2	4	263	1	0	0	0	0	0	0	0	1	15633	813	29	2		2	TBCK	4	107216253	Silent	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08	52776215	107216253	83938023	8	4601											
F2RL2	2151	broad.mit.edu	37	5	75914398	75914398	+	Missense_Mutation	SNP	G	G	T	rs140813985		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr5:75914398G>T	ENST00000296641.4	-	2	337	c.134C>A	c.(133-135)cCa>cAa	p.P45Q	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.P23Q	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	45					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAAGAATTTGGGGGAGCTCC	0.413																																						uc003kem.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32						c.(133-135)cCa>cAa		Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.							85	95	92					5																	75914398		2196	4299	6495	SO:0001583	missense	2151				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity	g.chr5:75914398G>T	U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.134C>A	5.37:g.75914398G>T	ENSP00000296641:p.Pro45Gln		Somatic				IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.P23Q	p.P45Q	NM_004101	NP_004092	WXS	Illumina GAIIx	Phase_I	O00254	PAR3_HUMAN		all cancers(79;4.43e-43)	1	319	-		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)	45					B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	c.134C>A	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.949273	0.00475	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.62364	0.05;0.03	4.65	-5.18	0.02840	.	2.240730	0.02110	N	0.054707	T	0.30696	0.0773	N	0.01109	-1.01	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.32587	-0.9901	10	0.14656	T	0.56	12.5948	12.6713	0.56868	0.0666:0.0:0.2001:0.7333	.	45	O00254	PAR3_HUMAN	Q	45;23	ENSP00000296641:P45Q;ENSP00000426703:P23Q	ENSP00000296641:P45Q	P	-	2	0	F2RL2	75950154	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-1.921000	0.01569	-0.587000	0.05890	0.563000	0.77884	CCA		0.413	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3			4	139	0	0	0	1	0	4	139					T	75914398	G	T	75914398	3	4	263	1	0	0	0	0	1	0	0	0	5345	1348	47	4	994	4	F2RL2	5	75914398	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		75914398	105000862	9	4602											
REV3L	5980	broad.mit.edu	37	6	111652902	111652902	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr6:111652902G>A	ENST00000358835.3	-	25	8465	c.8011C>T	c.(8011-8013)Ccc>Tcc	p.P2671S	REV3L_ENST00000368805.1_Missense_Mutation_p.P2671S|REV3L_ENST00000368802.3_Missense_Mutation_p.P2671S|REV3L_ENST00000435970.1_Missense_Mutation_p.P2593S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2671					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACTCCATTGGGGGACACTGTG	0.373								DNA polymerases (catalytic subunits)																														uc003puy.4																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(8011-8013)Ccc>Tcc	DNA polymerases (catalytic subunits)	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.							136	132	133					6																	111652902		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111652902G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8011C>T	6.37:g.111652902G>A	ENSP00000351697:p.Pro2671Ser		Somatic				REV3L_uc003pux.4_Missense_Mutation_p.P2593S|REV3L_uc003puz.4_Missense_Mutation_p.P2593S|REV3L_uc003pva.1_Non-coding_Transcript	p.P2671S	NM_002912	NP_002903	WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	23	8352	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2671					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8011C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	33	5.193682	0.94960	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.93	5.93	0.95920	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.246544	0.41712	D	0.000837	T	0.46444	0.1393	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46527	-0.9185	10	0.87932	D	0	-3.5269	20.3368	0.98748	0.0:0.0:1.0:0.0	.	2671	O60673	DPOLZ_HUMAN	S	2671;2671;2671;2593;744	ENSP00000357792:P2671S;ENSP00000357795:P2671S;ENSP00000351697:P2671S;ENSP00000402003:P2593S	ENSP00000351697:P2671S	P	-	1	0	REV3L	111759595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.352000	0.97076	2.805000	0.96524	0.655000	0.94253	CCC		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		7	129	0	0	0	1	0	7	129					A	111652902	G	A	111652902	3	1	263	1	0	0	0	0	1	0	0	0	13240	1232	43	2	1417	2	REV3L	6	111652902	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		111652902	59462165	10	4603											
THEMIS	387357	broad.mit.edu	37	6	128135044	128135044	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr6:128135044G>T	ENST00000368248.2	-	4	890	c.742C>A	c.(742-744)Cta>Ata	p.L248I	THEMIS_ENST00000543064.1_Missense_Mutation_p.L248I|THEMIS_ENST00000368250.1_Missense_Mutation_p.L169I|THEMIS_ENST00000537166.1_Missense_Mutation_p.L213I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	248	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGACATCTAGACTGGGGAGG	0.343																																						uc011ebt.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(742-744)Cta>Ata		Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.							100	108	105					6																	128135044		2202	4300	6502	SO:0001583	missense	387357				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		g.chr6:128135044G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.742C>A	6.37:g.128135044G>T	ENSP00000357231:p.Leu248Ile		Somatic				THEMIS_uc010kfa.3_Missense_Mutation_p.L151I|THEMIS_uc021zfa.1_Missense_Mutation_p.L248I|THEMIS_uc010kfb.3_Missense_Mutation_p.L213I	p.L248I	NM_001164685	NP_001158157	WXS	Illumina GAIIx	Phase_I	Q8N1K5	THMS1_HUMAN			3	891	-			248			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.742C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898330	0.52227	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.63580	2.35;2.35;2.35;2.35;-0.05	5.59	0.512	0.16994	.	0.000000	0.64402	D	0.000003	T	0.68192	0.2974	M	0.80422	2.495	0.37282	D	0.907871	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71192	-0.4665	10	0.72032	D	0.01	-12.7023	9.2931	0.37800	0.4537:0.0:0.5463:0.0	.	248;248	F5H1J9;Q8N1K5	.;THMS1_HUMAN	I	169;248;248;213;16	ENSP00000357233:L169I;ENSP00000439594:L248I;ENSP00000357231:L248I;ENSP00000439863:L213I;ENSP00000387740:L16I	ENSP00000357231:L248I	L	-	1	2	THEMIS	128176737	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	1.453000	0.35167	0.097000	0.17492	-0.391000	0.06502	CTA		0.343	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		42	48	0	0	0	1	0	42	48					T	128135044	G	T	128135044	3	4	263	1	0	0	0	0	1	0	0	0	15857	933	33	4	1316	4	THEMIS	6	128135044	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08	16482142	128135044	42980023	11	4604											
KIAA1549	57670	broad.mit.edu	37	7	138597183	138597183	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr7:138597183C>T	ENST00000422774.1	-	3	2950	c.2902G>A	c.(2902-2904)Gag>Aag	p.E968K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E918K|KIAA1549_ENST00000440172.1_Missense_Mutation_p.E968K			Q9HCM3	K1549_HUMAN	KIAA1549	968						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGATGTACTCCTGCACAGCT	0.468			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.2				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2902-2904)Gag>Aag		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							138	133	134					7																	138597183		2038	4209	6247	SO:0001583	missense	57670					integral to membrane		g.chr7:138597183C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2902G>A	7.37:g.138597183C>T	ENSP00000416040:p.Glu968Lys		Somatic				KIAA1549_uc011kqj.2_Missense_Mutation_p.E968K	p.E968K	NM_001164665	NP_001158137	WXS	Illumina GAIIx	Phase_I	Q9HCM3	K1549_HUMAN			2	2951	-			968					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2902G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441581	0.83993	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26223	1.76;1.76;1.75	5.38	5.38	0.77491	.	0.153934	0.43416	D	0.000576	T	0.30854	0.0778	L	0.32530	0.975	0.30689	N	0.751499	P;D	0.55800	0.954;0.973	P;P	0.53593	0.541;0.73	T	0.05886	-1.0858	10	0.30854	T	0.27	.	14.5742	0.68235	0.0:0.8428:0.1572:0.0	.	968;968	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	K	968;918;968	ENSP00000406661:E968K;ENSP00000242365:E918K;ENSP00000416040:E968K	ENSP00000242365:E918K	E	-	1	0	KIAA1549	138247723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.458000	0.53014	2.793000	0.96121	0.655000	0.94253	GAG		0.468	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			22	43	0	0	0	1	0	22	43					T	138597183	C	T	138597183	3	4	263	1	0	0	0	0	1	0	0	0	8244	864	30	2	3022	2	KIAA1549	7	138597183	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		138597183	20541480	12	4605											
BRAF	673	broad.mit.edu	37	7	140477832	140477846	+	In_Frame_Del	DEL	AGGTGTAGGTGCTGT	AGGTGTAGGTGCTGT	-	rs375520366		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr7:140477832_140477846delAGGTGTAGGTGCTGT	ENST00000288602.6	-	12	1522_1536	c.1462_1476delACAGCACCTACACCT	c.(1462-1476)acagcacctacacctdel	p.TAPTP488del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAACTGCTGAGGTGTAGGTGCTGTCACATTCAAC	0.358		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	3	Complex - deletion inframe(2)|Deletion - In frame(1)	p.L485_P490>Y(4)|p.N486_P490del(3)	lung(2)|ovary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1462-1476)acagcacctacacctdel		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140477832_140477846delAGGTGTAGGTGCTGT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1462_1476delACAGCACCTACACCT	7.37:g.140477832_140477846delAGGTGTAGGTGCTGT	ENSP00000288602:p.Thr488_Pro492del		Somatic					p.TAPTP488del	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			11	1523_1537	-	Melanoma(164;0.00956)		488			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1462_1476delACAGCACCTACACCT	CCDS5863.1																																																																																				0.358	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	26						19	26	---	---	---	---	-	140477846	AGGTGTAGGTGCTGT	-	140477832	7	5	263	1	0	1	0	1	0	0	0	0	1496	291	11	0	852	0	BRAF	7	140477832	In_Frame_Del	DEL	AGGTGTAGGTGCTGT	TCGA-EM-A2P2-01A-11D-A202-08	1880649	140477832	18660831	13	4606											
PTPRD	5789	broad.mit.edu	37	9	8501033	8501033	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:8501033T>C	ENST00000381196.4	-	21	2392	c.1849A>G	c.(1849-1851)Agt>Ggt	p.S617G	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S617G|PTPRD_ENST00000356435.5_Missense_Mutation_p.S617G|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S604G|PTPRD_ENST00000358503.5_Missense_Mutation_p.S604G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	617	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CTGGTGCAACTAATGTCTTGA	0.403										TSP Lung(15;0.13)																												uc003zkk.3																			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.(1849-1851)Agt>Ggt		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.							102	93	96					9																	8501033		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.chr9:8501033T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1849A>G	9.37:g.8501033T>C	ENSP00000370593:p.Ser617Gly	TSP Lung(15;0.13)	Somatic				PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	p.S617G	NM_002839	NP_002830	WXS	Illumina GAIIx	Phase_I	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)	23	2592	-		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)	617			Fibronectin type-III 4.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1849A>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320125	0.41096	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.260790	0.44483	D	0.000446	T	0.60932	0.2307	M	0.80847	2.515	0.38099	D	0.937206	P;B;B	0.35033	0.481;0.011;0.082	B;B;B	0.33121	0.138;0.024;0.158	T	0.65977	-0.6037	9	.	.	.	.	16.0668	0.80887	0.0:0.0:0.0:1.0	.	604;617;617	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	G	617;617;604;604;617	ENSP00000370593:S617G;ENSP00000348812:S617G;ENSP00000353187:S604G;ENSP00000351293:S604G;ENSP00000438164:S617G	.	S	-	1	0	PTPRD	8491033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.889000	0.56212	2.192000	0.70111	0.459000	0.35465	AGT		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	56	0	0	0	1	0	3	56					C	8501033	T	C	8501033	3	2	263	1	0	0	0	0	1	0	0	0	12799	1522	53	3	4049	3	PTPRD	9	8501033	Missense_Mutation	SNP	T	TCGA-EM-A2P2-01A-11D-A202-08		8501033	132712398	14	4607											
MPDZ	8777	broad.mit.edu	37	9	13138104	13138104	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:13138104A>G	ENST00000319217.7	-	29	4299	c.4052T>C	c.(4051-4053)aTt>aCt	p.I1351T	MPDZ_ENST00000538841.1_Missense_Mutation_p.I210T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1351T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I1351T|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.I1365T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1318T|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1351T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I1318T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1351	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTCCAGTTCAATCATATGCAG	0.403																																						uc010mhy.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4051-4053)aTt>aCt		Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.							73	69	70					9																	13138104		1891	4121	6012	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13138104A>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4052T>C	9.37:g.13138104A>G	ENSP00000320006:p.Ile1351Thr		Somatic				MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Missense_Mutation_p.I56T|MPDZ_uc010mhx.3_Missense_Mutation_p.I173T|MPDZ_uc011lmm.2_Missense_Mutation_p.I210T|MPDZ_uc003zkz.4_Missense_Mutation_p.I44T|MPDZ_uc010mhz.3_Missense_Mutation_p.I1318T|MPDZ_uc011lmn.2_Missense_Mutation_p.I1318T|MPDZ_uc003zlb.4_Missense_Mutation_p.I1351T|MPDZ_uc010mia.1_Missense_Mutation_p.I1351T	p.I1351T	NM_003829	NP_003820	WXS	Illumina GAIIx	Phase_I	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	27	4109	-			1351			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4052T>C		.	.	.	.	.	.	.	.	.	.	A	26.6	4.753081	0.89753	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.72	5.72	0.89469	.	0.000000	0.47455	D	0.000223	T	0.69611	0.3130	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.976;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.967;0.995;0.999;1.0;0.999	T	0.74777	-0.3550	10	0.56958	D	0.05	.	15.999	0.80275	1.0:0.0:0.0:0.0	.	1318;210;56;1318;1231;1351	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	T	1351;1351;1351;287;210;1318;1318;1351;1231;1365;173	ENSP00000320006:I1351T;ENSP00000439807:I1351T;ENSP00000370410:I1351T;ENSP00000444230:I287T;ENSP00000444717:I210T;ENSP00000444151:I1318T;ENSP00000415208:I1318T;ENSP00000370403:I1351T;ENSP00000446358:I1365T;ENSP00000389705:I173T	ENSP00000320006:I1351T	I	-	2	0	MPDZ	13128104	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.300000	0.96151	2.176000	0.68965	0.528000	0.53228	ATT		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		13	16	0	0	0	1	0	13	16					G	13138104	A	G	13138104	3	3	263	1	0	0	0	0	1	0	0	0	9722	101	4	3	2145	3	MPDZ	9	13138104	Missense_Mutation	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08	4637071	13138104	128075327	15	4608											
COL27A1	85301	broad.mit.edu	37	9	117052336	117052336	+	Splice_Site	SNP	A	A	G			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr9:117052336A>G	ENST00000356083.3	+	46	4597		c.e46-1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						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)	p.?(2)		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						TTGATTTTTCAGGGACCAAAG	0.627																																						uc011lxl.2																			2	Unknown(2)	p.?(2)	prostate(1)|kidney(1)	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.e46-2		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.							42	48	46					9																	117052336		2203	4300	6503	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117052336A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4207-1A>G	9.37:g.117052336A>G			Somatic				COL27A1_uc004bii.3_Splice_Site	p.G1403_splice	NM_032888	NP_116277	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			46	4207	+			1403			Collagen-like 13.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Splice_Site	SNP	ENST00000356083.3	37	c.4207_splice	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625794	0.66901	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8826	0.46948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL27A1	116092157	1.000000	0.71417	0.941000	0.38009	0.929000	0.56500	5.131000	0.64751	1.824000	0.53156	0.402000	0.26972	.		0.627	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Intron	3	67	0	0	0	1	0	3	67					G	117052336	A	G	117052336	5	3	263	1	0	0	0	0	0	0	1	0	3685	202	7	3	4387	3	COL27A1	9	117052336	Splice_Site	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08	103914232	117052336	24161095	16	4609											
CLRN3	119467	broad.mit.edu	37	10	129676574	129676575	+	Missense_Mutation	DNP	TC	TC	AA	rs550245323		TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr10:129676574_129676575TC>AA	ENST00000368671.3	-	3	681_682	c.519_520GA>TT	c.(517-522)acGAcc>acTTcc	p.T174S		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	174						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TAACTGTGGGTCGTTCCTTTAC	0.45																																						uc001lka.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(517-522)acgacc>acTTcc		Homo sapiens clarin 3 (CLRN3), mRNA.																																				SO:0001583	missense	119467					integral to membrane		g.chr10:129676574_129676575TC>AA	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.519_520delinsAA	10.37:g.129676574_129676575delinsAA	ENSP00000357660:p.Thr174Ser		Somatic				CLRN3_uc001ljz.1_Missense_Mutation_p.T106S	p.T174S	NM_152311	NP_689524	WXS	Illumina GAIIx	Phase_I	Q8NCR9	CLRN3_HUMAN			2	682_683	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	174					Q6MZX8	Missense_Mutation	DNP	ENST00000368671.3	37	c.519_520GA>TT	CCDS7656.1																																																																																				0.45	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		61	96	0	0	0	1	0	61	96					AA	129676575	TC	AA	129676574	3	1	263	1	0	0	0	0	1	0	0	0	3559	1667	58	5	164	5	CLRN3	10	129676574	Missense_Mutation	DNP	TC	TCGA-EM-A2P2-01A-11D-A202-08		129676574	5858173	17	4610											
LRP4	4038	broad.mit.edu	37	11	46920980	46920980	+	Missense_Mutation	SNP	C	C	T	rs201585639	byFrequency	TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr11:46920980C>T	ENST00000378623.1	-	5	747	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	169	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGGTGTCACCGTCGCAGTAC	0.582													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		22776	0		0	False		,,,				2504	0					uc001ndn.4																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(505-507)Ggt>Agt		Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.		C	SER/GLY	2,4400	4.2+/-10.8	0,2,2199	182	141	155		505	5.6	0.4	11		155	0,8598		0,0,4299	yes	missense	LRP4	NM_002334.3	56	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	169/1906	46920980	2,12998	2201	4299	6500	SO:0001583	missense	4038				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46920980C>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.505G>A	11.37:g.46920980C>T	ENSP00000367888:p.Gly169Ser		Somatic				LRP4_uc009ylh.2_Missense_Mutation_p.G120S	p.G169S	NM_002334	NP_002325	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	4	748	-			169			LDL-receptor class A 4.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.505G>A	CCDS31478.1	4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	28.0	4.883292	0.91740	4.54E-4	0.0	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.96774	-4.12;-4.12	5.55	5.55	0.83447	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.78344	2.41	0.58432	D	0.999999	D;D	0.69078	0.991;0.997	P;P	0.58577	0.651;0.841	D	0.97595	1.0119	10	0.51188	T	0.08	.	19.5068	0.95121	0.0:1.0:0.0:0.0	.	214;169	C9JRN7;O75096	.;LRP4_HUMAN	S	169;120	ENSP00000367888:G169S;ENSP00000434763:G120S	ENSP00000367888:G169S	G	-	1	0	LRP4	46877556	0.960000	0.32886	0.365000	0.25901	0.975000	0.68041	3.816000	0.55658	2.621000	0.88768	0.561000	0.74099	GGT		0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		5	166	0	0	0	1	0	5	166					T	46920980	C	T	46920980	3	4	263	1	0	0	0	0	1	0	0	0	8959	652	23	1	5348	1	LRP4	11	46920980	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		46920980	88085536	18	4611											
FGD4	121512	broad.mit.edu	37	12	32793220	32793220	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr12:32793220C>T	ENST00000427716.2	+	17	2478	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	FGD4_ENST00000534526.2_Missense_Mutation_p.A822V|FGD4_ENST00000525053.1_Missense_Mutation_p.A797V|FGD4_ENST00000546442.1_Missense_Mutation_p.A592V|FGD4_ENST00000531134.1_Missense_Mutation_p.A770V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	685	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GACGTCAGAGCCCAGGCCACC	0.493																																						uc010ske.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(2389-2391)gCc>gTc		Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.							137	133	135					12																	32793220		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr12:32793220C>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2054C>T	12.37:g.32793220C>T	ENSP00000394487:p.Ala685Val		Somatic				FGD4_uc001rlc.3_Missense_Mutation_p.A770V|FGD4_uc001rkz.3_Missense_Mutation_p.A685V|FGD4_uc001rla.3_Missense_Mutation_p.A341V|FGD4_uc001rlb.1_Non-coding_Transcript	p.A797V	NM_139241	NP_640334	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			16	2474	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		685					Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.2390C>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661138	0.88154	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.51477	D	0.000086	T	0.43411	0.1246	M	0.84219	2.685	0.80722	D	1	P;P;D	0.89917	0.933;0.933;1.0	P;P;D	0.75484	0.897;0.897;0.986	T	0.43572	-0.9383	10	0.59425	D	0.04	-11.148	18.9773	0.92742	0.0:1.0:0.0:0.0	.	797;770;685	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	V	822;770;685;592;797	ENSP00000449273:A822V;ENSP00000431323:A770V;ENSP00000394487:A685V;ENSP00000446695:A592V;ENSP00000433666:A797V	ENSP00000394487:A685V	A	+	2	0	FGD4	32684487	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.288000	0.78691	2.470000	0.83445	0.563000	0.77884	GCC		0.493	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		60	111	0	0	0	1	0	60	111					T	32793220	C	T	32793220	3	4	263	1	0	0	0	0	1	0	0	0	5835	739	26	2	2112	2	FGD4	12	32793220	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		32793220	101058675	19	4612											
CCNT1	904	broad.mit.edu	37	12	49087252	49087252	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr12:49087252C>A	ENST00000261900.3	-	9	1967	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	582	Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AAACACAGCCCCTCCAGTCTC	0.458																																						uc001rsd.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1744-1746)gGg>gTg		Homo sapiens cyclin T1 (CCNT1), mRNA.							76	79	78					12																	49087252		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087252C>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1745G>T	12.37:g.49087252C>A	ENSP00000261900:p.Gly582Val		Somatic				CCNT1_uc009zkz.2_Missense_Mutation_p.G297V|CCNT1_uc021qxk.1_5'Flank	p.G582V	NM_001240	NP_001231	WXS	Illumina GAIIx	Phase_I	O60563	CCNT1_HUMAN			8	2068	-			582			Ser-rich.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1745G>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	8.877	0.950606	0.18431	.	.	ENSG00000129315	ENST00000261900	T	0.17854	2.25	4.53	2.57	0.30868	.	0.624514	0.15089	N	0.281179	T	0.09512	0.0234	N	0.08118	0	0.27924	N	0.938125	B	0.15141	0.012	B	0.16289	0.015	T	0.24476	-1.0159	10	0.23302	T	0.38	-0.4412	14.1178	0.65167	0.0:0.5547:0.4453:0.0	.	582	O60563	CCNT1_HUMAN	V	582	ENSP00000261900:G582V	ENSP00000261900:G582V	G	-	2	0	CCNT1	47373519	0.019000	0.18553	0.770000	0.31555	0.882000	0.50991	1.089000	0.30890	0.542000	0.28846	0.561000	0.74099	GGG		0.458	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		41	46	0	0	0	1	0	41	46					A	49087252	C	A	49087252	3	1	263	1	0	0	0	0	1	0	0	0	2934	623	22	4	439	4	CCNT1	12	49087252	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08	16294032	49087252	84764643	20	4613											
COL4A2	1284	broad.mit.edu	37	13	111160356	111160356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr13:111160356delT	ENST00000360467.5	+	47	4975	c.4669delT	c.(4669-4671)tatfs	p.Y1557fs	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1557	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				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)			TGTCTGCTACTATGCCAGCCG	0.622																																						uc001vqx.3																			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.(4669-4671)tatfs		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							78	87	84					13																	111160356		2179	4284	6463	SO:0001589	frameshift_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111160356delT	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4669delT	13.37:g.111160356delT	ENSP00000353654:p.Tyr1557fs		Somatic					p.Y1557fs	NM_001846	NP_001837	WXS	Illumina GAIIx	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		46	4958	+	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)	1557			Collagen IV NC1.		Q14052|Q548C3|Q5VZA9|Q66K23	Frame_Shift_Del	DEL	ENST00000360467.5	37	c.4669delT	CCDS41907.1																																																																																				0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		57	103						57	103	---	---	---	---	-	111160356	T	-	111160356	7	5	263	1	0	1	0	1	0	0	0	0	3690	1522	53	0	4851	0	COL4A2	13	111160356	Frame_Shift_Del	DEL	T	TCGA-EM-A2P2-01A-11D-A202-08		111160356	4009522	21	4614											
UBR1	197131	broad.mit.edu	37	15	43270075	43270076	+	Intron	INS	-	-	A			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr15:43270075_43270076insA	ENST00000290650.4	-	38	4297				UBR1_ENST00000382177.2_Intron	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1						cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACTGAACACTTACCAAAACATG	0.287																																						uc001zqq.3																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.e38+1		Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.																																				SO:0001627	intron_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43270075_43270076insA		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4218+1->T	15.37:g.43270076_43270076dupA			Somatic					p.L1406_splice	NM_174916	NP_777576	WXS	Illumina GAIIx	Phase_I	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	38	4284	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1406					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Splice_Site	INS	ENST00000290650.4	37	c.4218_splice	CCDS10091.1																																																																																				0.287	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		42	53						42	53	---	---	---	---	A	43270076	-	A	43270075	6	5	263	0	1	1	1	0	0	0	0	0	16898	1769	61	0		0	UBR1	15	43270075	Intron	INS	-	TCGA-EM-A2P2-01A-11D-A202-08		43270075	59261317	22	4615											
CEP152	22995	broad.mit.edu	37	15	49052457	49052457	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr15:49052457T>C	ENST00000380950.2	-	19	2756	c.2569A>G	c.(2569-2571)Ata>Gta	p.I857V	CEP152_ENST00000399334.3_Missense_Mutation_p.I857V|CEP152_ENST00000325747.5_Missense_Mutation_p.I764V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	857					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)		TGCACAGCTATTTCTACCTGT	0.378																																						uc001zwz.3																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2569-2571)Ata>Gta		Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.							116	107	110					15																	49052457		1854	4107	5961	SO:0001583	missense	22995				G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding	g.chr15:49052457T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2569A>G	15.37:g.49052457T>C	ENSP00000370337:p.Ile857Val		Somatic				CEP152_uc001zwy.3_Missense_Mutation_p.I857V|CEP152_uc001zxa.2_Missense_Mutation_p.I764V	p.I857V	NM_001194998	NP_001181927	WXS	Illumina GAIIx	Phase_I	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	18	2762	-		all_lung(180;0.0428)	857					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2569A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	6.395	0.441075	0.12164	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.50813	0.74;0.73;0.74	4.66	-0.456	0.12190	.	0.796636	0.11934	N	0.515418	T	0.25457	0.0619	N	0.11427	0.14	0.21220	N	0.999756	B;B;B	0.15141	0.002;0.001;0.012	B;B;B	0.08055	0.003;0.001;0.002	T	0.18650	-1.0330	10	0.27785	T	0.31	-2.0E-4	9.9434	0.41593	0.0:0.5788:0.0:0.4212	.	764;857;857	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	857;764;857	ENSP00000370337:I857V;ENSP00000321000:I764V;ENSP00000382271:I857V	ENSP00000321000:I764V	I	-	1	0	CEP152	46839749	0.347000	0.24853	0.990000	0.47175	0.565000	0.35776	0.061000	0.14366	0.009000	0.14813	-0.408000	0.06270	ATA		0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		35	60	0	0	0	1	0	35	60					C	49052457	T	C	49052457	3	2	263	1	0	0	0	0	1	0	0	0	3248	1493	52	3	2427	3	CEP152	15	49052457	Missense_Mutation	SNP	T	TCGA-EM-A2P2-01A-11D-A202-08	5782382	49052457	53478935	23	4616											
WDR59	79726	broad.mit.edu	37	16	74919593	74919593	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr16:74919593A>C	ENST00000262144.6	-	25	2777	c.2647T>G	c.(2647-2649)Ttg>Gtg	p.L883V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	883										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACAAACTTCAACACTTCAGCT	0.458																																						uc002fdh.1																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2647-2649)Ttg>Gtg		Homo sapiens WD repeat domain 59 (WDR59), mRNA.							123	110	115					16																	74919593		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74919593A>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2647T>G	16.37:g.74919593A>C	ENSP00000262144:p.Leu883Val		Somatic				WDR59_uc002fdf.1_Missense_Mutation_p.L328V|WDR59_uc002fdg.1_Missense_Mutation_p.L475V	p.L883V	NM_030581	NP_085058	WXS	Illumina GAIIx	Phase_I	Q6PJI9	WDR59_HUMAN			24	2749	-			883					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2647T>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637314	0.47049	.	.	ENSG00000103091	ENST00000262144	T	0.73897	-0.79	5.36	0.973	0.19710	.	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	M	0.72353	2.195	0.58432	D	0.999997	D;D	0.67145	0.993;0.996	D;D	0.75484	0.967;0.986	T	0.78802	-0.2061	10	0.41790	T	0.15	-14.4767	9.1438	0.36919	0.3511:0.0:0.6489:0.0	.	883;328	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	V	883	ENSP00000262144:L883V	ENSP00000262144:L883V	L	-	1	2	WDR59	73477094	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	1.998000	0.40796	0.626000	0.30322	-1.145000	0.01858	TTG		0.458	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		27	60	0	0	0	1	0	27	60					C	74919593	A	C	74919593	3	2	263	1	0	0	0	0	1	0	0	0	17305	40	2	5	285	5	WDR59	16	74919593	Missense_Mutation	SNP	A	TCGA-EM-A2P2-01A-11D-A202-08		74919593	15435160	24	4617											
DNAH9	1770	broad.mit.edu	37	17	11607602	11607602	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr17:11607602C>T	ENST00000262442.4	+	25	5302	c.5234C>T	c.(5233-5235)gCc>gTc	p.A1745V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A1745V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1745	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A1745V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGAGAGTGCCATGAAGGAC	0.522																																						uc002gne.3																			1	Substitution - Missense(1)	p.A1745V(2)|p.S1744N(1)	central_nervous_system(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(5233-5235)gCc>gTc		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							119	112	114					17																	11607602		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11607602C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5234C>T	17.37:g.11607602C>T	ENSP00000262442:p.Ala1745Val		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.A1039V	p.A1745V	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	24	5302	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1745			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5234C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649581	0.87958	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.30714	1.56;1.52	5.91	5.91	0.95273	.	0.062515	0.64402	D	0.000006	T	0.64505	0.2604	H	0.96080	3.765	0.80722	D	1	D	0.57899	0.981	P	0.58454	0.839	T	0.73729	-0.3891	10	0.48119	T	0.1	.	15.7416	0.77901	0.0:0.8642:0.1358:0.0	.	1745	Q9NYC9	DYH9_HUMAN	V	1745;1745;327	ENSP00000262442:A1745V;ENSP00000414874:A1745V	ENSP00000262442:A1745V	A	+	2	0	DNAH9	11548327	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	5.634000	0.67833	2.813000	0.96785	0.655000	0.94253	GCC		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	105	0	0	0	1	0	7	105					T	11607602	C	T	11607602	3	4	263	1	0	0	0	0	1	0	0	0	4608	739	26	2	5332	2	DNAH9	17	11607602	Missense_Mutation	SNP	C	TCGA-EM-A2P2-01A-11D-A202-08		11607602	69587608	25	4618											
MLL4	9757	broad.mit.edu	37	19	36219029	36219029	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P2-01A-11D-A202-08	TCGA-EM-A2P2-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffffff5c-9797-4c83-b841-120e142e999e	d44f44bd-cfb5-4d3a-8793-9c1085fff05b	g.chr19:36219029G>A	ENST00000222270.7	+	19	4528	c.4528G>A	c.(4528-4530)Gcc>Acc	p.A1510T	KMT2B_ENST00000420124.1_Missense_Mutation_p.A1510T|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1510					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGTTCGACGCCCACGACCC	0.627																																						uc021usv.1										"N, F, Mis"							"medulloblastoma, renal"		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(4528-4530)Gcc>Acc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							16	17	17					19																	36219029		2002	4171	6173	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36219029G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4528G>A	19.37:g.36219029G>A	ENSP00000222270:p.Ala1510Thr	HNSCC(34;0.089)	Somatic				MLL2_uc021usu.1_Missense_Mutation_p.A324T	p.A1510T	NM_014727	NP_055542	WXS	Illumina GAIIx	Phase_I	O14686	MLL2_HUMAN			18	4528	+			0			Cys-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.4528G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219732	0.58560	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83837	-1.77;-1.77	5.31	5.31	0.75309	.	0.000000	0.42053	D	0.000777	D	0.85978	0.5823	L	0.40543	1.245	0.41110	D	0.985733	D	0.76494	0.999	P	0.61533	0.89	D	0.86032	0.1514	10	0.49607	T	0.09	.	16.0062	0.80363	0.0:0.0:1.0:0.0	.	1510	Q9UMN6	MLL4_HUMAN	T	1510	ENSP00000222270:A1510T;ENSP00000398837:A1510T	ENSP00000222270:A1510T	A	+	1	0	AD000671.1	40910869	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.067000	0.50010	2.765000	0.95021	0.655000	0.94253	GCC		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	10	0	0	0	1	0	7	10					A	36219029	G	A	36219029	3	1	263	1	0	0	0	0	1	0	0	0	9623	1087	38	1	4602	1	MLL4	19	36219029	Missense_Mutation	SNP	G	TCGA-EM-A2P2-01A-11D-A202-08		36219029	22909954	26	4619											
FABP3	2170	broad.mit.edu	37	1	31845844	31845844	+	Silent	SNP	C	C	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:31845844C>A	ENST00000373713.2	-	1	79	c.18G>T	c.(16-18)ctG>ctT	p.L6L		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	6					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TCCAGGTGCCCAGGAAAGCGT	0.612																																						uc001bss.1																			0		p.L6R(1)		large_intestine(1)|lung(2)|ovary(2)	5						c.(16-18)ctG>ctT		Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.							87	76	80					1																	31845844		2203	4300	6503	SO:0001819	synonymous_variant	2170				negative regulation of cell proliferation			g.chr1:31845844C>A	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"Fatty acid binding protein family"	3557	protein-coding gene	gene with protein product		134651	"fatty acid binding protein 11"	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.18G>T	1.37:g.31845844C>A			Somatic					p.L6L	NM_004102	NP_004093	WXS	Illumina GAIIx	Phase_I	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	0	80	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	6					B2RAB6|Q5VV93|Q99957	Silent	SNP	ENST00000373713.2	37	c.18G>T	CCDS342.1																																																																																				0.612	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		4	50	0	0	0	1	0	4	50					A	31845844	C	A	31845844	2	1	264	1	0	0	0	0	0	0	0	1	5358	581	21	4		4	FABP3	1	31845844	Silent	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		31845844	217404777	1	4620											
FLG	2312	broad.mit.edu	37	1	152285608	152285608	+	Missense_Mutation	SNP	C	C	T	rs372282962		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr1:152285608C>T	ENST00000368799.1	-	3	1789	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	585	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACGTGACCCTGAGTGCCT	0.562									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1753-1755)gGg>gAg		Homo sapiens filaggrin (FLG), mRNA.		C	GLU/GLY	1,4405		0,1,2202	387	364	372		1754	0.2	0.0	1		372	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	585/4062	152285608	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285608C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1754G>A	1.37:g.152285608C>T	ENSP00000357789:p.Gly585Glu		Somatic				AK056431_uc001ezv.3_5'Flank	p.G585E	NM_002016	NP_002007	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1790	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		585			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1754G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.903	0.956800	0.18507	2.27E-4	0.0	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.02236	4.38	2.49	0.217	0.15264	.	.	.	.	.	T	0.03520	0.0101	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33879	-0.9851	9	0.33141	T	0.24	.	4.35	0.11151	0.2744:0.4844:0.2412:0.0	.	585	P20930	FILA_HUMAN	E	585;117	ENSP00000357789:G585E	ENSP00000357789:G585E	G	-	2	0	FLG	150552232	0.000000	0.05858	0.016000	0.15963	0.011000	0.07611	-0.341000	0.07811	-0.081000	0.12662	0.603000	0.83216	GGG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		26	356	0	0	0	1	0	26	356					T	152285608	C	T	152285608	3	4	264	1	0	0	0	0	1	0	0	0	5922	623	22	2	10435	2	FLG	1	152285608	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08	120439764	152285608	96965013	2	4621											
BOC	91653	broad.mit.edu	37	3	113005568	113005568	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr3:113005568T>G	ENST00000495514.1	+	20	3908	c.3204T>G	c.(3202-3204)agT>agG	p.S1068R	BOC_ENST00000355385.3_Missense_Mutation_p.S1068R|BOC_ENST00000273395.4_Missense_Mutation_p.S1069R			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1068					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGGTGGACAGTCCTGACTCCT	0.597																																						uc003dzz.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3205-3207)agT>agG		Homo sapiens Boc homolog (mouse) (BOC), mRNA.							164	175	171					3																	113005568		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005568T>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3204T>G	3.37:g.113005568T>G	ENSP00000418663:p.Ser1068Arg		Somatic				BOC_uc003dzx.3_Missense_Mutation_p.S1068R|BOC_uc003dzy.3_Missense_Mutation_p.S1068R|BOC_uc003eab.3_Missense_Mutation_p.S769R|BOC_uc003eac.3_Missense_Mutation_p.S383R	p.S1069R	NM_033254	NP_150279	WXS	Illumina GAIIx	Phase_I	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		19	3546	+			1068					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3207T>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685488	0.29872	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.59083	0.29;0.3;0.29	5.51	1.89	0.25635	.	0.305004	0.34986	N	0.003528	T	0.30262	0.0759	N	0.17082	0.46	0.26177	N	0.979775	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.001	T	0.04737	-1.0930	10	0.20046	T	0.44	.	0.7984	0.01070	0.1658:0.2688:0.1513:0.4142	.	885;1069;1068	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	R	1068;1069;1068	ENSP00000418663:S1068R;ENSP00000273395:S1069R;ENSP00000347546:S1068R	ENSP00000273395:S1069R	S	+	3	2	BOC	114488258	0.567000	0.26626	0.998000	0.56505	0.989000	0.77384	0.732000	0.26072	0.541000	0.28827	0.459000	0.35465	AGT		0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		4	303	0	0	0	1	0	4	303					G	113005568	T	G	113005568	3	3	264	1	0	0	0	0	1	0	0	0	1481	1664	58	5	3274	5	BOC	3	113005568	Missense_Mutation	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08		113005568	85016862	3	4622											
SLC7A11	23657	broad.mit.edu	37	4	139157528	139157528	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:139157528C>A	ENST00000280612.5	-	2	634	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	119					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GGTAATGGACCAAAGACTTCC	0.338																																						uc021xrw.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(355-357)Ggt>Tgt		Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						92	95	94					4																	139157528		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139157528C>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.355G>T	4.37:g.139157528C>A	ENSP00000280612:p.Gly119Cys		Somatic					p.G119C	NM_014331	NP_055146	WXS	Illumina GAIIx	Phase_I	Q9UPY5	XCT_HUMAN			1	635	-	all_hematologic(180;0.166)		119					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.355G>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104630	0.94245	.	.	ENSG00000151012	ENST00000280612	D	0.91351	-2.83	5.71	5.71	0.89125	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98130	1.0430	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	119	Q9UPY5	XCT_HUMAN	C	119	ENSP00000280612:G119C	ENSP00000280612:G119C	G	-	1	0	SLC7A11	139376978	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.736000	0.84948	2.687000	0.91594	0.655000	0.94253	GGT		0.338	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			20	49	0	0	0	1	0	20	49					A	139157528	C	A	139157528	3	1	264	1	0	0	0	0	1	0	0	0	14694	594	21	4	1194	4	SLC7A11	4	139157528	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		139157528	51996748	4	4623											
SORBS2	8470	broad.mit.edu	37	4	186578641	186578641	+	Silent	SNP	T	T	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr4:186578641T>C	ENST00000284776.7	-	6	713	c.204A>G	c.(202-204)aaA>aaG	p.K68K	SORBS2_ENST00000355634.5_Silent_p.K168K|SORBS2_ENST00000418609.1_5'Flank|SORBS2_ENST00000319471.9_Silent_p.K154K|SORBS2_ENST00000498125.1_5'Flank|SORBS2_ENST00000393528.3_Silent_p.K114K|SORBS2_ENST00000437304.2_Silent_p.K247K|SORBS2_ENST00000449407.2_Silent_p.K154K|SORBS2_ENST00000448662.2_Silent_p.K137K|SORBS2_ENST00000431808.1_Silent_p.K68K	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	68	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGCGGGGCTTTGATGACTG	0.567																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyg.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(460-462)aaA>aaG		Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.							115	110	112					4																	186578641		2203	4300	6503	SO:0001819	synonymous_variant	8470					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186578641T>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.204A>G	4.37:g.186578641T>C			Somatic				SORBS2_uc003iyh.3_Silent_p.K247K|SORBS2_uc011ckw.2_Silent_p.K137K|SORBS2_uc003iyi.3_Silent_p.K154K|SORBS2_uc011ckx.2_Silent_p.K114K|SORBS2_uc003iyk.3_Silent_p.K154K|SORBS2_uc003iym.3_Silent_p.K168K|SORBS2_uc003iyl.3_Silent_p.K68K|SORBS2_uc003iyn.1_Silent_p.K114K|SORBS2_uc011cky.1_Silent_p.K131K|SORBS2_uc011cku.2_5'Flank|SORBS2_uc011ckv.2_5'Flank|SORBS2_uc003iyd.3_Silent_p.K247K|SORBS2_uc003iye.3_Silent_p.K68K|SORBS2_uc003iya.3_Silent_p.K68K|SORBS2_uc003iyb.3_Silent_p.K68K|SORBS2_uc003iyc.3_Silent_p.K68K|SORBS2_uc003iyf.3_Silent_p.K131K|SORBS2_uc003iyo.1_5'Flank	p.K154K	NM_021069	NP_066547	WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	4	494	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	68					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.462A>G	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385604	0.25031	.	.	ENSG00000154556	ENST00000438278	.	.	.	4.88	-1.58	0.08479	.	.	.	.	.	T	0.55369	0.1916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50866	-0.8777	4	.	.	.	-26.7233	10.1656	0.42877	0.0:0.4221:0.0:0.5779	.	.	.	.	G	12	.	.	S	-	1	0	SORBS2	186815635	0.997000	0.39634	0.991000	0.47740	0.887000	0.51463	0.338000	0.19858	-0.320000	0.08640	0.460000	0.39030	AGC		0.567	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	43	0	0	0	1	0	7	43					C	186578641	T	C	186578641	2	2	264	1	0	0	0	0	0	0	0	1	14928	1606	56	3		3	SORBS2	4	186578641	Silent	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08	47421113	186578641	4575635	5	4624											
GRM6	2916	broad.mit.edu	37	5	178418557	178418557	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr5:178418557C>G	ENST00000517717.1	-	4	763	c.725G>C	c.(724-726)gGg>gCg	p.G242A	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.G242A			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	242					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)		AATACAGACCCCCCCTGGGCG	0.627																																						uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(724-726)gGg>gCg		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.							132	134	134					5																	178418557		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418557C>G	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.725G>C	5.37:g.178418557C>G	ENSP00000430767:p.Gly242Ala		Somatic				GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	p.G242A	NM_000843	NP_000834	WXS	Illumina GAIIx	Phase_I	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	2	904	-	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)	242						Missense_Mutation	SNP	ENST00000517717.1	37	c.725G>C	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036633	0.75617	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.91521	-2.86;-2.86	5.35	4.46	0.54185	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.96024	0.8705	M	0.93197	3.39	0.50039	D	0.999845	D	0.63046	0.992	D	0.65773	0.938	D	0.96452	0.9335	9	0.54805	T	0.06	.	14.0187	0.64541	0.0:0.8472:0.1528:0.0	.	242	O15303	GRM6_HUMAN	A	242	ENSP00000231188:G242A;ENSP00000430767:G242A	ENSP00000231188:G242A	G	-	2	0	GRM6	178351163	1.000000	0.71417	0.919000	0.36401	0.993000	0.82548	7.496000	0.81526	1.367000	0.46095	0.561000	0.74099	GGG		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			46	138	0	0	0	1	0	46	138					G	178418557	C	G	178418557	3	3	264	1	0	0	0	0	1	0	0	0	6801	623	22	4	1940	4	GRM6	5	178418557	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		178418557	2496703	6	4625											
APOBEC2	10930	broad.mit.edu	37	6	41029581	41029583	+	In_Frame_Del	DEL	GAG	GAG	-	rs150558136		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr6:41029581_41029583delGAG	ENST00000244669.2	+	2	690_692	c.646_648delGAG	c.(646-648)gagdel	p.E217del		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	217					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTATACTACGAGGAGAAGTTGG	0.483																																					Ovarian(118;1320 2185 8096 29684)	uc003opl.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(646-648)gagdel		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.				1,4263		0,1,2131						-11.8	0.0			67	1,8253		0,1,4126	no	coding	APOBEC2	NM_006789.3		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001651	inframe_deletion	10930				DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding	g.chr6:41029581_41029583delGAG	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.646_648delGAG	6.37:g.41029584_41029586delGAG	ENSP00000244669:p.Glu217del		Somatic				UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	p.E217del	NM_006789	NP_006780	WXS	Illumina GAIIx	Phase_I	Q9Y235	ABEC2_HUMAN			1	793_795	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		217					B2R899|Q53F28|Q5TGU5|Q5TGU6	In_Frame_Del	DEL	ENST00000244669.2	37	c.646_648delGAG	CCDS4848.1																																																																																				0.483	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		34	64						34	64	---	---	---	---	-	41029583	GAG	-	41029581	7	5	264	1	0	1	0	1	0	0	0	0	788	1059	37	0	652	0	APOBEC2	6	41029581	In_Frame_Del	DEL	GAG	TCGA-EM-A2P3-01A-11D-A202-08		41029581	130085486	7	4626											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	34	0	0	0	1	0	26	34					T	140453136	A	T	140453136	3	4	264	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A2P3-01A-11D-A202-08		140453136	18685527	8	4627											
WNK2	65268	broad.mit.edu	37	9	96051588	96051588	+	Missense_Mutation	SNP	C	C	G	rs570121640|rs35091400		TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr9:96051588C>G	ENST00000297954.4	+	20	4663	c.4663C>G	c.(4663-4665)Ccc>Gcc	p.P1555A	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P1518A|WNK2_ENST00000349097.3_Missense_Mutation_p.P1167A|WNK2_ENST00000427277.2_Missense_Mutation_p.P1130A|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1555					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCAAGCCCACCCCTGGGGCC	0.721																																						uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4663-4665)Ccc>Gcc		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							7	9	8					9																	96051588		2165	4238	6403	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051588C>G	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4663C>G	9.37:g.96051588C>G	ENSP00000297954:p.Pro1555Ala		Somatic				WNK2_uc011lud.1_Missense_Mutation_p.P1518A|WNK2_uc004atj.3_Missense_Mutation_p.P1518A|WNK2_uc004atk.3_Missense_Mutation_p.P1155A|WNK2_uc004atl.1_Missense_Mutation_p.P113A	p.P1555A	NM_006648	NP_006639	WXS	Illumina GAIIx	Phase_I	Q9Y3S1	WNK2_HUMAN			19	4663	+			1555					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4663C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.93|16.93|16.93	3.257470|3.257470|3.257470	0.59321|0.59321|0.59321	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624	.|T;T;T;T|.	.|0.24723|.	.|1.84;1.84;1.84;1.84|.	5.32|5.32|5.32	4.41|4.41|4.41	0.53225|0.53225|0.53225	.|.|.	.|0.116446|.	.|0.64402|.	.|N|.	.|0.000014|.	T|T|T	0.64271|0.64271|0.64271	0.2583|0.2583|0.2583	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;B;D;D|.	.|0.71674|.	.|0.989;0.981;0.39;0.998;0.981|.	.|P;P;B;D;P|.	.|0.78314|.	.|0.889;0.777;0.054;0.991;0.76|.	T|T|T	0.62656|0.62656|0.62656	-0.6808|-0.6808|-0.6808	5|10|5	.|0.36615|.	.|T|.	.|0.2|.	.|.|.	13.4286|13.4286|13.4286	0.61042|0.61042|0.61042	0.344:0.656:0.0:0.0|0.344:0.656:0.0:0.0|0.344:0.656:0.0:0.0	.|.|.	.|1518;1513;1121;1518;1555|.	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.	.|.;.;.;.;WNK2_HUMAN|.	Q|A|S	1513;314;40|1555;1518;1167;1130|1121	.|ENSP00000297954:P1555A;ENSP00000378860:P1518A;ENSP00000297876:P1167A;ENSP00000411181:P1130A|.	.|ENSP00000297954:P1555A|.	H|P|T	+|+|+	3|1|2	2|0|0	WNK2|WNK2|WNK2	95091409|95091409|95091409	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.969000|0.969000|0.969000	0.41365|0.41365|0.41365	0.826000|0.826000|0.826000	0.46750|0.46750|0.46750	0.422000|0.422000|0.422000	0.21296|0.21296|0.21296	1.229000|1.229000|1.229000	0.43630|0.43630|0.43630	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	CAC|CCC|ACC		0.721	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		6	14	0	0	0	1	0	6	14					G	96051588	C	G	96051588	3	3	264	1	0	0	0	0	1	0	0	0	17375	507	18	4	4626	4	WNK2	9	96051588	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		96051588	45161843	9	4628											
KLC2	64837	broad.mit.edu	37	11	66033332	66033332	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr11:66033332A>G	ENST00000417856.1	+	13	1694	c.1451A>G	c.(1450-1452)gAc>gGc	p.D484G	RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394066.2_Missense_Mutation_p.D407G|KLC2_ENST00000394067.2_Missense_Mutation_p.D484G|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000421552.1_Missense_Mutation_p.D407G|KLC2_ENST00000394065.2_Missense_Mutation_p.D345G|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000316924.5_Missense_Mutation_p.D484G	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	484					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGGGTTTGGACCCCGCAAGC	0.672																																						uc010rov.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1450-1452)gAc>gGc		Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.							42	42	42					11																	66033332		2200	4294	6494	SO:0001583	missense	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66033332A>G	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1451A>G	11.37:g.66033332A>G	ENSP00000399403:p.Asp484Gly		Somatic				KLC2_uc010row.1_Missense_Mutation_p.D484G|KLC2_uc001ohb.2_Missense_Mutation_p.D484G|KLC2_uc010rox.1_Missense_Mutation_p.D407G|KLC2_uc001ohc.2_Missense_Mutation_p.D484G|KLC2_uc001ohd.2_Missense_Mutation_p.D407G|KLC2_uc001ohe.1_Missense_Mutation_p.D345G|RAB1B_uc001ohf.3_5'Flank	p.D484G	NM_001134775	NP_073733	WXS	Illumina GAIIx	Phase_I	Q9H0B6	KLC2_HUMAN			12	1694	+			484					A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	c.1451A>G	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649343	0.67358	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.87412	-1.44;-1.44;-1.44;-1.48;-1.48;-2.25	3.71	3.71	0.42584	.	0.000000	0.64402	D	0.000001	D	0.90410	0.6998	M	0.72894	2.215	0.58432	D	0.999996	D;D;B	0.69078	0.997;0.997;0.008	D;D;B	0.83275	0.996;0.994;0.139	D	0.87929	0.2709	10	0.07175	T	0.84	-31.4217	11.5279	0.50591	1.0:0.0:0.0:0.0	.	345;407;484	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	G	484;484;484;407;407;345	ENSP00000399403:D484G;ENSP00000377631:D484G;ENSP00000314837:D484G;ENSP00000408484:D407G;ENSP00000377630:D407G;ENSP00000377629:D345G	ENSP00000314837:D484G	D	+	2	0	KLC2	65789908	0.999000	0.42202	1.000000	0.80357	0.762000	0.43233	3.905000	0.56333	1.565000	0.49641	0.402000	0.26972	GAC		0.672	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822		3	66	0	0	0	1	0	3	66					G	66033332	A	G	66033332	3	3	264	1	0	0	0	0	1	0	0	0	8334	275	10	3	1497	3	KLC2	11	66033332	Missense_Mutation	SNP	A	TCGA-EM-A2P3-01A-11D-A202-08		66033332	68973184	10	4629											
BRCA2	675	broad.mit.edu	37	13	32913950	32913950	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr13:32913950T>C	ENST00000380152.3	+	11	5691	c.5458T>C	c.(5458-5460)Tgc>Cgc	p.C1820R	BRCA2_ENST00000544455.1_Missense_Mutation_p.C1820R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1820					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)		CTCTTCACCCTGCAAAAATAA	0.353			"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)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		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.(5458-5460)Tgc>Cgc	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							64	70	68					13																	32913950		2203	4300	6503	SO:0001583	missense	675	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	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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	g.chr13:32913950T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5458T>C	13.37:g.32913950T>C	ENSP00000369497:p.Cys1820Arg	TCGA Ovarian(8;0.087)	Somatic					p.C1820R	NM_000059	NP_000050	WXS	Illumina GAIIx	Phase_I	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)	10	5685	+		Lung SC(185;0.0262)	1820					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5458T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	7.566	0.665725	0.14710	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00686	5.85;5.85	5.24	-0.553	0.11815	.	0.585491	0.17926	N	0.157322	T	0.00936	0.0031	M	0.65975	2.015	0.09310	N	0.999992	B	0.16396	0.017	B	0.15052	0.012	T	0.44787	-0.9305	10	0.25751	T	0.34	.	5.1647	0.15079	0.123:0.2858:0.0:0.5912	.	1820	P51587	BRCA2_HUMAN	R	1820	ENSP00000369497:C1820R;ENSP00000439902:C1820R	ENSP00000369497:C1820R	C	+	1	0	BRCA2	31811950	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.103000	0.10940	0.126000	0.18424	0.533000	0.62120	TGC		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		3	95	0	0	0	1	0	3	95					C	32913950	T	C	32913950	3	2	264	1	0	0	0	0	1	0	0	0	1499	1580	55	3	5496	3	BRCA2	13	32913950	Missense_Mutation	SNP	T	TCGA-EM-A2P3-01A-11D-A202-08		32913950	82255928	11	4630											
PYGO1	26108	broad.mit.edu	37	15	55839051	55839051	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr15:55839051G>A	ENST00000302000.6	-	3	524	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PYGO1_ENST00000563719.1_Missense_Mutation_p.H144Y	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	144					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTAAAAGCATGAGGTCGATTA	0.423																																						uc010bfl.1																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(430-432)Cat>Tat		Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.							103	100	101					15																	55839051		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55839051G>A	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"Zinc fingers, PHD-type"	30256	protein-coding gene	gene with protein product		606902	"pygopus homolog 1 (Drosophila)"			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.430C>T	15.37:g.55839051G>A	ENSP00000302327:p.His144Tyr		Somatic				PYGO1_uc002adf.1_Missense_Mutation_p.H144Y	p.H144Y	NM_015617	NP_056432	WXS	Illumina GAIIx	Phase_I	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	2	486	-			144					A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.430C>T	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960698	0.53400	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.47528	0.84	5.09	5.09	0.68999	.	0.129398	0.51477	D	0.000097	T	0.43322	0.1242	L	0.27053	0.805	0.46298	D	0.998974	D;D	0.53885	0.963;0.963	P;P	0.49999	0.628;0.528	T	0.40289	-0.9571	10	0.62326	D	0.03	-17.9948	11.3578	0.49625	0.0829:0.0:0.9171:0.0	.	144;144	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	Y	144	ENSP00000302327:H144Y	ENSP00000302327:H144Y	H	-	1	0	PYGO1	53626343	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.493000	0.60341	2.513000	0.84729	0.585000	0.79938	CAT		0.423	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		30	52	0	0	0	1	0	30	52					A	55839051	G	A	55839051	3	1	264	1	0	0	0	0	1	0	0	0	12863	1290	45	2	833	2	PYGO1	15	55839051	Missense_Mutation	SNP	G	TCGA-EM-A2P3-01A-11D-A202-08		55839051	46692341	12	4631											
CUEDC1	404093	broad.mit.edu	37	17	55962647	55962647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr17:55962647delG	ENST00000577830.1	-	2	692	c.279delC	c.(277-279)ggcfs	p.G93fs	CUEDC1_ENST00000360238.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000407144.2_Frame_Shift_Del_p.G93fs|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	93										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGCCGCTGCTGCCACCGCCCT	0.642																																						uc002ivd.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(277-279)ggcfs		Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.							39	43	41					17																	55962647		2202	4299	6501	SO:0001589	frameshift_variant	404093							g.chr17:55962647delG	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.279delC	17.37:g.55962647delG	ENSP00000462717:p.Gly93fs		Somatic				CUEDC1_uc002ive.1_Frame_Shift_Del_p.G93fs	p.G93fs	NM_017949	NP_060419	WXS	Illumina GAIIx	Phase_I	Q9NWM3	CUED1_HUMAN			1	998	-			93					D3DTZ2|Q9NWD0	Frame_Shift_Del	DEL	ENST00000577830.1	37	c.279delC	CCDS11599.1																																																																																				0.642	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949		40	71						40	71	---	---	---	---	-	55962647	G	-	55962647	7	5	264	1	0	1	0	1	0	0	0	0	4052	1306	46	0	917	0	CUEDC1	17	55962647	Frame_Shift_Del	DEL	G	TCGA-EM-A2P3-01A-11D-A202-08		55962647	25232563	13	4632											
SOX12	6666	broad.mit.edu	37	20	306862	306862	+	Silent	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:306862C>T	ENST00000342665.2	+	1	624	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SOX12_ENST00000544632.1_Silent_p.L98L|RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	98					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGCTGCGGCTCAAGCACATGG	0.701																																						uc002wdh.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(292-294)ctC>ctT		Homo sapiens SRY (sex determining region Y)-box 12 (SOX12), mRNA.							14	16	15					20																	306862		2200	4289	6489	SO:0001819	synonymous_variant	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:306862C>T	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"SRY (sex determining region Y)-boxes"	11198	protein-coding gene	gene with protein product		601947	"SRY (sex determining region Y)-box 22"	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.294C>T	20.37:g.306862C>T			Somatic					p.L98L	NM_006943	NP_008874	WXS	Illumina GAIIx	Phase_I	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		0	624	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	98					Q5D038|Q9NUD4	Silent	SNP	ENST00000342665.2	37	c.294C>T	CCDS12995.1																																																																																				0.701	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		3	13	0	0	0	1	0	3	13					T	306862	C	T	306862	2	4	264	1	0	0	0	0	0	0	0	1	14943	813	29	2		2	SOX12	20	306862	Silent	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08		306862	62718658	14	4633											
PAK7	57144	broad.mit.edu	37	20	9546574	9546574	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr20:9546574C>T	ENST00000378429.3	-	6	1994	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	PAK7_ENST00000378423.1_Missense_Mutation_p.R483Q|PAK7_ENST00000353224.5_Missense_Mutation_p.R483Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R483Q(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTTGCTTCCGGAGGTCCAT	0.438																																						uc002wnl.2																			2	Substitution - Missense(2)	p.R483Q(4)	large_intestine(1)|central_nervous_system(1)	NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1447-1449)cGg>cAg		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.							267	248	255					20																	9546574		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546574C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1448G>A	20.37:g.9546574C>T	ENSP00000367686:p.Arg483Gln		Somatic				PAK7_uc002wnk.2_Missense_Mutation_p.R483Q|PAK7_uc002wnj.2_Missense_Mutation_p.R483Q|PAK7_uc010gby.1_Missense_Mutation_p.R483Q	p.R483Q	NM_020341	NP_817127	WXS	Illumina GAIIx	Phase_I	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1993	-			483			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1448G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345104	0.95807	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.65916	-0.18;-0.18;-0.18	5.29	5.29	0.74685	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	0.60753	0.2293	N	0.25485	0.75	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.51135	0.66;0.66	T	0.58470	-0.7631	9	.	.	.	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	483;483	B0AZM9;Q9P286	.;PAK7_HUMAN	Q	483;483;483;431	ENSP00000367686:R483Q;ENSP00000322957:R483Q;ENSP00000367679:R483Q	.	R	-	2	0	PAK7	9494574	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.818000	0.86416	2.452000	0.82932	0.460000	0.39030	CGG		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			26	170	0	0	0	1	0	26	170					T	9546574	C	T	9546574	3	4	264	1	0	0	0	0	1	0	0	0	11405	652	23	1	735	1	PAK7	20	9546574	Missense_Mutation	SNP	C	TCGA-EM-A2P3-01A-11D-A202-08	9239712	9546574	53478946	15	4634											
IL17REL	400935	broad.mit.edu	37	22	50436469	50436469	+	Silent	SNP	G	G	A			TCGA-EM-A2P3-01A-11D-A202-08	TCGA-EM-A2P3-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3b36fbc-ae06-445b-b6cf-b08062727c76	03c8a3c1-879d-400d-919d-379b3af0a8c2	g.chr22:50436469G>A	ENST00000389983.2	-	11	1068	c.804C>T	c.(802-804)ccC>ccT	p.P268P	IL17REL_ENST00000341280.5_Silent_p.P268P	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	268										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGAGCTGGGGCTGGGTGT	0.692																																						uc003bje.1																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(802-804)ccC>ccT		Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.							32	35	34					22																	50436469		2200	4283	6483	SO:0001819	synonymous_variant	400935							g.chr22:50436469G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.804C>T	22.37:g.50436469G>A			Somatic					p.P268P	NM_001001694	NP_001001694	WXS	Illumina GAIIx	Phase_I	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	10	1036	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	268					A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	c.804C>T	CCDS33679.1																																																																																				0.692	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		14	52	0	0	0	1	0	14	52					A	50436469	G	A	50436469	2	1	264	1	0	0	0	0	0	0	0	1	7644	1219	43	2		2	IL17REL	22	50436469	Silent	SNP	G	TCGA-EM-A2P3-01A-11D-A202-08		50436469	868097	16	4635											
PI4K2B	55300	broad.mit.edu	37	4	25265420	25265420	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr4:25265420A>G	ENST00000264864.6	+	7	1216	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.I247V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	343	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AATAGCTGCAATTGATAATGG	0.303																																						uc003grk.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15						c.(1027-1029)Att>Gtt		Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.							116	122	120					4																	25265420		2203	4295	6498	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25265420A>G	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.1027A>G	4.37:g.25265420A>G	ENSP00000264864:p.Ile343Val		Somatic				PI4K2B_uc011bxs.2_Missense_Mutation_p.I247V	p.I343V	NM_018323	NP_060793	WXS	Illumina GAIIx	Phase_I	Q8TCG2	P4K2B_HUMAN			6	1160	+		Breast(46;0.173)	343			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.1027A>G	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269363	0.80469	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.83992	-1.79;-1.79	4.87	4.87	0.63330	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.93232	0.7844	H	0.94462	3.54	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.94771	0.7945	10	0.62326	D	0.03	-17.2387	14.4565	0.67420	1.0:0.0:0.0:0.0	.	343	Q8TCG2	P4K2B_HUMAN	V	247;343;312	ENSP00000423373:I247V;ENSP00000264864:I343V	ENSP00000264864:I343V	I	+	1	0	PI4K2B	24874518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	1.822000	0.53115	0.460000	0.39030	ATT		0.303	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		41	50	0	0	0	1	0	41	50					G	25265420	A	G	25265420	3	3	265	1	0	0	0	0	1	0	0	0	11872	101	4	3	1053	3	PI4K2B	4	25265420	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08		25265420	165888856	1	4636											
GPX8	493869	broad.mit.edu	37	5	54456042	54456042	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:54456042C>T	ENST00000503787.1	+	1	97	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	GPX8_ENST00000296734.6_Missense_Mutation_p.P8S|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.P8S|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TGCAGCTTACCCGCTAAAATG	0.448																																						uc003jpq.2																			0		p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(22-24)Ccg>Tcg		Homo sapiens glutathione peroxidase 8 (putative) (GPX8), mRNA.	Glutathione(DB00143)						77	77	77					5																	54456042		2203	4300	6503	SO:0001583	missense	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54456042C>T	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.22C>T	5.37:g.54456042C>T	ENSP00000423822:p.Pro8Ser		Somatic				CDC20B_uc003jpo.2_Intron|CDC20B_uc003jpn.2_Intron|CDC20B_uc010ivu.2_Intron|CDC20B_uc010ivv.2_Intron|CDC20B_uc003jpp.3_Intron|GPX8_uc003jpr.2_Missense_Mutation_p.P8S|GPX8_uc003jps.2_Non-coding_Transcript|GPX8_uc003jpt.2_Missense_Mutation_p.P8S	p.P8S	NM_001008397	NP_001008398	WXS	Illumina GAIIx	Phase_I	Q8TED1	GPX8_HUMAN			0	59	+			8						Missense_Mutation	SNP	ENST00000503787.1	37	c.22C>T	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126677	0.77549	.	.	ENSG00000164294	ENST00000503787;ENST00000296734;ENST00000515370	T;T	0.04970	3.52;3.64	5.93	5.04	0.67666	.	0.047935	0.85682	N	0.000000	T	0.07279	0.0184	N	0.19112	0.55	0.43555	D	0.995869	B;B;B	0.30542	0.039;0.284;0.018	B;B;B	0.40165	0.076;0.321;0.02	T	0.39375	-0.9617	10	0.52906	T	0.07	.	11.4456	0.50120	0.0:0.8511:0.0:0.1489	.	8;8;8	E7ETY7;B4DPY0;Q8TED1	.;.;GPX8_HUMAN	S	8	ENSP00000423822:P8S;ENSP00000427466:P8S	ENSP00000296734:P8S	P	+	1	0	GPX8	54491799	0.803000	0.28956	0.128000	0.21923	0.890000	0.51754	1.205000	0.32308	1.438000	0.47492	0.655000	0.94253	CCG		0.448	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		45	40	0	0	0	1	0	45	40					T	54456042	C	T	54456042	3	4	265	1	0	0	0	0	1	0	0	0	6746	623	22	2	24	2	GPX8	5	54456042	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		54456042	126459218	2	4637											
PCSK1	5122	broad.mit.edu	37	5	95735729	95735729	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:95735729G>A	ENST00000311106.3	-	10	1595	c.1358C>T	c.(1357-1359)gCt>gTt	p.A453V	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A406V	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	453					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCTGGGGTCAGCTAAATCCAC	0.463																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1357-1359)gCt>gTt		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						108	101	104					5																	95735729		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735729G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1358C>T	5.37:g.95735729G>A	ENSP00000308024:p.Ala453Val		Somatic				PCSK1_uc010jbi.2_Missense_Mutation_p.A143V|PCSK1_uc021ybq.1_Missense_Mutation_p.A406V	p.A453V	NM_000439	NP_000430	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	9	1597	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	453					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1358C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750754	0.89753	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.81996	-1.56;-1.56	5.48	5.48	0.80851	Galactose-binding domain-like (1);Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.045719	0.85682	D	0.000000	D	0.88959	0.6579	M	0.73962	2.25	0.80722	D	1	D;P	0.71674	0.998;0.955	P;B	0.55011	0.766;0.236	D	0.88943	0.3381	10	0.51188	T	0.08	-16.3135	19.3158	0.94213	0.0:0.0:1.0:0.0	.	406;453	E9PHA1;P29120	.;NEC1_HUMAN	V	453;406	ENSP00000308024:A453V;ENSP00000421600:A406V	ENSP00000308024:A453V	A	-	2	0	PCSK1	95761485	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.192000	0.94947	2.730000	0.93505	0.650000	0.86243	GCT		0.463	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		3	91	0	0	0	1	0	3	91					A	95735729	G	A	95735729	3	1	265	1	0	0	0	0	1	0	0	0	11600	971	34	2	923	2	PCSK1	5	95735729	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08	41279687	95735729	85179531	3	4638											
PRKAG2	51422	broad.mit.edu	37	7	151573629	151573629	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:151573629G>A	ENST00000287878.4	-	1	581	c.77C>T	c.(76-78)gCc>gTc	p.A26V	PRKAG2-AS1_ENST00000467458.1_RNA|PRKAG2-AS1_ENST00000464464.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	26					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CTTCTGGCTGGCATTTTTCTT	0.607																																						uc003wkk.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(76-78)gCc>gTc		Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.							76	79	78					7																	151573629		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151573629G>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.77C>T	7.37:g.151573629G>A	ENSP00000287878:p.Ala26Val		Somatic				PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.A26V|LOC100505483_uc003wko.2_5'Flank	p.A26V	NM_016203	NP_077747	WXS	Illumina GAIIx	Phase_I	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	0	688	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	26					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.77C>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941899	0.34283	.	.	ENSG00000106617	ENST00000287878	D	0.84298	-1.83	4.01	2.17	0.27698	.	1.157260	0.06365	N	0.712480	T	0.70684	0.3252	N	0.08118	0	0.09310	N	0.999999	B;B	0.19200	0.034;0.002	B;B	0.22601	0.04;0.003	T	0.57888	-0.7733	10	0.33940	T	0.23	.	5.4414	0.16511	0.1154:0.2254:0.6591:0.0	.	26;26	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	V	26	ENSP00000287878:A26V	ENSP00000287878:A26V	A	-	2	0	PRKAG2	151204562	0.570000	0.26651	0.021000	0.16686	0.977000	0.68977	1.476000	0.35420	0.349000	0.23975	0.449000	0.29647	GCC		0.607	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		4	150	0	0	0	1	0	4	150					A	151573629	G	A	151573629	3	1	265	1	0	0	0	0	1	0	0	0	12501	1203	42	2	1696	2	PRKAG2	7	151573629	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		151573629	7565034	4	4639											
NCAPG2	54892	broad.mit.edu	37	7	158448053	158448053	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:158448053A>G	ENST00000409423.1	-	21	2655	c.2483T>C	c.(2482-2484)cTg>cCg	p.L828P	NCAPG2_ENST00000275830.10_Missense_Mutation_p.L620P|NCAPG2_ENST00000356309.3_Missense_Mutation_p.L828P|NCAPG2_ENST00000541468.1_Missense_Mutation_p.L329P|NCAPG2_ENST00000449727.2_Missense_Mutation_p.L828P|NCAPG2_ENST00000409339.3_Missense_Mutation_p.L828P	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATGGATGCTCAGGCGACAGTG	0.522																																						uc011kwe.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2482-2484)cTg>cCg		Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.							142	158	153					7																	158448053		2081	4218	6299	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158448053A>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2483T>C	7.37:g.158448053A>G	ENSP00000386569:p.Leu828Pro		Somatic				NCAPG2_uc010lqu.1_Missense_Mutation_p.L620P|NCAPG2_uc003wnx.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnv.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.L329P|NCAPG2_uc011kwd.1_Missense_Mutation_p.L271P	p.L828P	NM_017760	NP_060230	WXS	Illumina GAIIx	Phase_I	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	19	2628	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	828					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2483T>C	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.32|17.32	3.360034|3.360034	0.61403|0.61403	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.57907|.	0.37;0.41;0.41;0.46;0.38;0.38|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.126462|.	0.50627|.	D|.	0.000107|.	T|.	0.69735|.	0.3144|.	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.988;1.0|.	D;D;P;D|.	0.73380|.	0.98;0.973;0.819;0.956|.	T|.	0.68720|.	-0.5334|.	10|.	0.87932|.	D|.	0|.	-8.5922|-8.5922	15.0346|15.0346	0.71734|0.71734	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	828;271;620;828|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	P|R	329;828;828;620;828;271;828|630	ENSP00000442337:L329P;ENSP00000348657:L828P;ENSP00000386569:L828P;ENSP00000275830:L620P;ENSP00000387007:L828P;ENSP00000388326:L828P|.	ENSP00000275830:L620P|.	L|X	-|-	2|1	0|0	NCAPG2|NCAPG2	158140814|158140814	1.000000|1.000000	0.71417|0.71417	0.629000|0.629000	0.29254|0.29254	0.190000|0.190000	0.23558|0.23558	8.240000|8.240000	0.89813|0.89813	1.964000|1.964000	0.57103|0.57103	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.522	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		4	481	0	0	0	1	0	4	481					G	158448053	A	G	158448053	3	3	265	1	0	0	0	0	1	0	0	0	10208	188	7	3	984	3	NCAPG2	7	158448053	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08	6874424	158448053	690610	5	4640											
CSMD3	114788	broad.mit.edu	37	8	113529419	113529419	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:113529419G>A	ENST00000297405.5	-	28	4844	c.4600C>T	c.(4600-4602)Ccc>Tcc	p.P1534S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1430S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1534S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1494S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1534	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1534T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTCATGGGGACCCCTGGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			1	Substitution - Missense(1)	p.P1534T(2)	lung(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4600-4602)Ccc>Tcc		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							65	59	61					8																	113529419		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529419G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4600C>T	8.37:g.113529419G>A	ENSP00000297405:p.Pro1534Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Missense_Mutation_p.P806S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1494S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1430S	p.P1534S	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			27	4759	-			1534			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4600C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558741	0.86231	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.56	4.56	0.56223	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.83294	0.5223	M	0.94101	3.495	0.43317	D	0.99533	D;D;B	0.59767	0.982;0.986;0.431	P;D;B	0.65323	0.891;0.934;0.219	D	0.87676	0.2544	10	0.54805	T	0.06	.	17.5002	0.87728	0.0:0.0:1.0:0.0	.	1430;1534;1494	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1494;1534;874;1430;1534	ENSP00000345799:P1494S;ENSP00000297405:P1534S;ENSP00000341558:P874S;ENSP00000412263:P1430S;ENSP00000343124:P1534S	ENSP00000297405:P1534S	P	-	1	0	CSMD3	113598595	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.560000	0.98139	2.339000	0.79563	0.585000	0.79938	CCC		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	32	0	0	0	1	0	3	32					A	113529419	G	A	113529419	3	1	265	1	0	0	0	0	1	0	0	0	3946	1232	43	2	6699	2	CSMD3	8	113529419	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		113529419	32834603	6	4641											
TG	7038	broad.mit.edu	37	8	133885318	133885318	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:133885318T>G	ENST00000220616.4	+	5	530	c.490T>G	c.(490-492)Tgt>Ggt	p.C164G	TG_ENST00000377869.1_Missense_Mutation_p.C164G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	164	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		TCCAAGGAGCTGTGAAATAAG	0.448																																						uc003ytw.3																			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.(490-492)Tgt>Ggt		Homo sapiens thyroglobulin (TG), mRNA.							75	72	73					8																	133885318		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133885318T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.490T>G	8.37:g.133885318T>G	ENSP00000220616:p.Cys164Gly		Somatic					p.C164G	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	531	+	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)	164			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.490T>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395684	0.83011	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.96830	-4.14;-4.14	5.84	5.84	0.93424	Thyroglobulin type-1 (5);	0.000000	0.64402	D	0.000001	D	0.97766	0.9267	M	0.72894	2.215	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.98574	1.0647	10	0.87932	D	0	.	15.3856	0.74699	0.0:0.0:0.0:1.0	.	164	P01266	THYG_HUMAN	G	164	ENSP00000367100:C164G;ENSP00000220616:C164G	ENSP00000220616:C164G	C	+	1	0	TG	133954500	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.184000	0.77705	2.234000	0.73211	0.459000	0.35465	TGT		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	36	0	0	0	1	0	5	36					G	133885318	T	G	133885318	3	3	265	1	0	0	0	0	1	0	0	0	15810	1580	55	5	508	5	TG	8	133885318	Missense_Mutation	SNP	T	TCGA-EM-A3AI-01A-11D-A202-08	20355899	133885318	12478704	7	4642											
CTTN	2017	broad.mit.edu	37	11	70282508	70282508	+	3'UTR	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr11:70282508C>T	ENST00000301843.8	+	0	3099				CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000376561.3_Silent_p.C633C	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TCCCGGAGTGCCCGTGAAGCG	0.532																																						uc001opu.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1897-1899)tgC>tgT		Homo sapiens cortactin (CTTN), transcript variant 3, mRNA.							234	226	228					11																	70282508		873	1985	2858	SO:0001624	3_prime_UTR_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70282508C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.*1240C>T	11.37:g.70282508C>T			Somatic				CTTN_uc001opv.4_3'UTR|CTTN_uc001opw.4_3'UTR|CTTN_uc001opx.3_3'UTR	p.C633C	NM_001184740	NP_001171669	WXS	Illumina GAIIx	Phase_I	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	2105	+			0					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1899C>T	CCDS41680.1																																																																																				0.532	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		4	176	0	0	0	1	0	4	176					T	70282508	C	T	70282508	1	4	265	0	1	0	0	0	0	0	0	0	4044	747	26	2		2	CTTN	11	70282508	3'UTR	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		70282508	64724008	8	4643											
GPR133	283383	broad.mit.edu	37	12	131484927	131484927	+	Splice_Site	SNP	G	G	C			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr12:131484927G>C	ENST00000261654.5	+	9	1525		c.e9-1		GPR133_ENST00000535015.1_Splice_Site|GPR133_ENST00000376682.4_5'Flank	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133						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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCACCTTTAGACCTTCTTAA	0.478																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e10-1		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							186	168	174					12																	131484927		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131484927G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.967-1G>C	12.37:g.131484927G>C			Somatic				GPR133_uc001uit.4_Splice_Site_p.T323_splice	p.T355_splice	NM_198827	NP_942122	WXS	Illumina GAIIx	Phase_I	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1622	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		323					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37	c.1063_splice	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.107972	0.20714	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8088	0.69977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR133	130050880	1.000000	0.71417	0.693000	0.30195	0.017000	0.09413	4.924000	0.63418	2.251000	0.74343	0.609000	0.83330	.		0.478	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Intron	28	95	0	0	0	1	0	28	95					C	131484927	G	C	131484927	5	2	265	1	0	0	0	0	0	0	1	0	6643	956	33	4	1000	4	GPR133	12	131484927	Splice_Site	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		131484927	2366968	9	4644											
EDDM3B	64184	broad.mit.edu	37	14	21238577	21238577	+	Nonsense_Mutation	SNP	C	C	T	rs201632508		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:21238577C>T	ENST00000326783.3	+	2	366	c.268C>T	c.(268-270)Cga>Tga	p.R90*		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	90						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GGATCGCTTCCGAAATGCATA	0.408																																						uc001vyd.3																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(268-270)Cga>Tga		Homo sapiens epididymal protein 3B (EDDM3B), mRNA.							105	98	100					14																	21238577		2203	4300	6503	SO:0001587	stop_gained	64184				spermatid development	extracellular region		g.chr14:21238577C>T	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"family with sequence similarity 12, member B (epididymal)"	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.268C>T	14.37:g.21238577C>T	ENSP00000314810:p.Arg90*		Somatic				EDDM3B_uc021ron.1_Nonsense_Mutation_p.R90*	p.R90*	NM_022360	NP_071755	WXS	Illumina GAIIx	Phase_I	P56851	EP3B_HUMAN			1	366	+			90					A0PK89	Nonsense_Mutation	SNP	ENST00000326783.3	37	c.268C>T	CCDS9557.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431521	0.43122	.	.	ENSG00000181552	ENST00000326783	.	.	.	3.98	-1.49	0.08718	.	0.864385	0.09817	N	0.751944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9707	0.09452	0.336:0.4103:0.2537:0.0	.	.	.	.	X	90	.	ENSP00000314810:R90X	R	+	1	2	EDDM3B	20308417	0.064000	0.20934	0.001000	0.08648	0.003000	0.03518	0.033000	0.13754	-0.166000	0.10890	-0.535000	0.04281	CGA		0.408	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			58	63	0	0	0	1	0	58	63					T	21238577	C	T	21238577	4	4	265	1	0	0	0	0	0	1	0	0	4910	644	23	1	270	1	EDDM3B	14	21238577	Nonsense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		21238577	86110963	10	4645											
AHNAK2	113146	broad.mit.edu	37	14	105409977	105409977	+	Silent	SNP	G	G	A	rs569298803	byFrequency	TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597													.|||	4	0.000798722	0.0023	0	5008	,	,		18962	0.001		0	False		,,,				2504	0					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11809-11811)gaC>gaT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							151	165	160					14																	105409977		1980	4147	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409977G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11811C>T	14.37:g.105409977G>A			Somatic				AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D3837D	p.D3937D	NM_138420	NP_612429	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11931	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3937					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11811C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	408	0	0	0	1	0	6	408					A	105409977	G	A	105409977	2	1	265	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409977	Silent	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08	84171400	105409977	1939563	11	4646											
EFNB3	1949	broad.mit.edu	37	17	7612771	7612771	+	Silent	SNP	C	C	T	rs528034465		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr17:7612771C>T	ENST00000226091.2	+	5	1297	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	300					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCGGGGTGGCGGGGCTGCAG	0.667																																						uc002gis.3																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(898-900)ggC>ggT		Homo sapiens ephrin-B3 (EFNB3), mRNA.							44	43	44					17																	7612771		2199	4292	6491	SO:0001819	synonymous_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612771C>T	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.900C>T	17.37:g.7612771C>T			Somatic					p.G300G	NM_001406	NP_001397	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			4	1297	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	300					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Silent	SNP	ENST00000226091.2	37	c.900C>T	CCDS11120.1																																																																																				0.667	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		15	85	0	0	0	1	0	15	85					T	7612771	C	T	7612771	2	4	265	1	0	0	0	0	0	0	0	1	4957	755	27	1		1	EFNB3	17	7612771	Silent	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		7612771	73582439	12	4647											
NEDD4L	23327	broad.mit.edu	37	18	55998052	55998052	+	Missense_Mutation	SNP	G	G	T	rs369196753		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr18:55998052G>T	ENST00000400345.3	+	11	1179	c.896G>T	c.(895-897)gGa>gTa	p.G299V	NEDD4L_ENST00000256830.9_Missense_Mutation_p.G299V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G178V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.G178V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G299V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G291V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G299V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G291V|NEDD4L_ENST00000589054.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	299					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCCTCCCCAGGATCTCGGACC	0.542																																						uc002lgy.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(895-897)gGa>gTa		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.							53	55	54					18																	55998052		1861	4095	5956	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55998052G>T	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.896G>T	18.37:g.55998052G>T	ENSP00000383199:p.Gly299Val		Somatic				NEDD4L_uc002lgz.3_Missense_Mutation_p.G299V|NEDD4L_uc002lgx.3_Missense_Mutation_p.G299V|NEDD4L_uc010xee.1_Missense_Mutation_p.G178V|NEDD4L_uc002lhc.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhd.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhb.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhe.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhf.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhg.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhh.2_Missense_Mutation_p.G178V|NEDD4L_uc010dpm.1_Missense_Mutation_p.G150V	p.G299V	NM_001144967	NP_001138439	WXS	Illumina GAIIx	Phase_I	Q96PU5	NED4L_HUMAN			10	1179	+			299					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.896G>T	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	6.309	0.425077	0.11987	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.51;1.52;1.53;2.0;1.98;1.9;2.0;2.0;1.98	5.58	4.43	0.53597	.	4.579650	0.00531	N	0.000219	T	0.19406	0.0466	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.24764	-1.0151	10	0.20519	T	0.43	.	7.9169	0.29822	0.1319:0.0:0.1493:0.7189	.	299;291;291;178;299;299;299	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	299;299;299;299;178;178;291;178;178;178	ENSP00000383199:G299V;ENSP00000372301:G299V;ENSP00000348847:G299V;ENSP00000256830:G299V;ENSP00000256832:G178V;ENSP00000411947:G178V;ENSP00000350569:G291V;ENSP00000393395:G178V;ENSP00000405440:G178V;ENSP00000389406:G178V	ENSP00000256830:G299V	G	+	2	0	NEDD4L	54149032	0.416000	0.25424	0.315000	0.25238	0.626000	0.37791	1.691000	0.37721	0.956000	0.37904	-0.262000	0.10625	GGA		0.542	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			6	47	0	0	0	1	0	6	47					T	55998052	G	T	55998052	3	4	265	1	0	0	0	0	1	0	0	0	10311	1174	41	4	966	4	NEDD4L	18	55998052	Missense_Mutation	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		55998052	22079196	13	4648											
ELL	8178	broad.mit.edu	37	19	18572546	18572546	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr19:18572546C>T	ENST00000262809.4	-	5	657	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ELL_ENST00000596124.3_Missense_Mutation_p.V63M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	196					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CCCCCACTCACGGCACTGGCA	0.667			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002njh.3				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(586-588)Gtg>Atg		Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.							58	55	56					19																	18572546		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18572546C>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.586G>A	19.37:g.18572546C>T	ENSP00000262809:p.Val196Met		Somatic	OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726	ELL_uc010ebq.3_Missense_Mutation_p.V139M|ELL_uc002njg.3_Missense_Mutation_p.V63M	p.V196M	NM_006532	NP_006523	WXS	Illumina GAIIx	Phase_I	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	4	658	-			196						Missense_Mutation	SNP	ENST00000262809.4	37	c.586G>A	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129622	0.01756	.	.	ENSG00000105656	ENST00000262809	T	0.22743	1.94	2.73	-5.46	0.02608	.	4.339300	0.01066	N	0.004720	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.011	B;B	0.08055	0.003;0.003	T	0.19289	-1.0310	10	0.39692	T	0.17	.	5.758	0.18184	0.0:0.3116:0.208:0.4804	.	140;196	Q59HG4;P55199	.;ELL_HUMAN	M	196	ENSP00000262809:V196M	ENSP00000262809:V196M	V	-	1	0	ELL	18433546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.506000	0.06359	-2.101000	0.00846	-2.320000	0.00252	GTG		0.667	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		25	39	0	0	0	1	0	25	39					T	18572546	C	T	18572546	3	4	265	1	0	0	0	0	1	0	0	0	5062	536	19	1	1311	1	ELL	19	18572546	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		18572546	40556437	14	4649											
C20orf165	128497	broad.mit.edu	37	20	44515629	44515629	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr20:44515629T>C	ENST00000372519.3	-	2	255	c.211A>G	c.(211-213)Agg>Ggg	p.R71G		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	71					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGCAGCCCCTGGCTTGTGGC	0.642																																						uc002xqf.3																			0											c.(211-213)Agg>Ggg		Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.							85	95	92					20																	44515629		2203	4300	6503	SO:0001583	missense	128497					integral to membrane		g.chr20:44515629T>C	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 165"	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.211A>G	20.37:g.44515629T>C	ENSP00000361597:p.Arg71Gly		Somatic					p.R71G	NM_080608	NP_542175	WXS	Illumina GAIIx	Phase_I	Q9BR10	CT165_HUMAN			1	220	-			71						Missense_Mutation	SNP	ENST00000372519.3	37	c.211A>G	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706974	0.48412	.	.	ENSG00000149634	ENST00000372519	T	0.54675	0.56	4.93	2.62	0.31277	.	0.000000	0.51477	D	0.000096	T	0.34019	0.0883	L	0.29908	0.895	0.35058	D	0.761256	B	0.11235	0.004	B	0.09377	0.004	T	0.26916	-1.0089	10	0.30854	T	0.27	-8.7666	5.3759	0.16164	0.0:0.2303:0.0:0.7697	.	71	Q9BR10	CT165_HUMAN	G	71	ENSP00000361597:R71G	ENSP00000361597:R71G	R	-	1	2	C20orf165	43949036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.944000	0.40263	0.906000	0.36621	0.533000	0.62120	AGG		0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			73	210	0	0	0	1	0	73	210					C	44515629	T	C	44515629	3	2	265	1	0	0	0	0	1	0	0	0	2094	1579	55	3	476	3	C20orf165	20	44515629	Missense_Mutation	SNP	T	TCGA-EM-A3AI-01A-11D-A202-08		44515629	18509891	15	4650											
PRPF6	57473	broad.mit.edu	37	20	62657293	62657293	+	Intron	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr20:62657293C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Intron|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCCTTCAGGCCAACCCCAAC	0.612																																						uc002yho.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e15-1		Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.							215	222	219					20																	62657293		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62657293C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+22764G>A	20.37:g.62657293C>T			Somatic				PRPF6_uc002yhp.3_Intron	p.A637_splice	NM_012469	NP_036601	WXS	Illumina GAIIx	Phase_I	O94906	PRP6_HUMAN			15	2077	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		637					Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	37	c.1909_splice	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072177	0.76415	.	.	ENSG00000101161	ENST00000266079	T	0.34667	1.35	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	M	0.82517	2.595	0.80722	D	1	B	0.30937	0.301	B	0.34242	0.178	T	0.45264	-0.9273	10	0.31617	T	0.26	-20.7258	20.0467	0.97609	0.0:1.0:0.0:0.0	.	637	O94906	PRP6_HUMAN	V	637	ENSP00000266079:A637V	ENSP00000266079:A637V	A	+	2	0	PRPF6	62127737	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	7.438000	0.80431	2.749000	0.94314	0.655000	0.94253	GCC		0.612	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		127	419	0	0	0	1	0	127	419					T	62657293	C	T	62657293	1	4	265	0	1	0	0	0	0	0	0	0	12574	753	26	2		2	PRPF6	20	62657293	Intron	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08	18141664	62657293	368227	16	4651											
GRIK1	2897	broad.mit.edu	37	21	31023467	31023467	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:31023467C>T	ENST00000399907.1	-	6	1336	c.925G>A	c.(925-927)Gag>Aag	p.E309K	GRIK1_ENST00000399913.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309K|GRIK1_ENST00000399914.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E309K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E309K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309K|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E309K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	309					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E309K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGGCCAGTCTCGGGCCTGGGT	0.463																																						uc011acs.2																			2	Substitution - Missense(2)	p.E309K(3)|p.E309E(1)	urinary_tract(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(925-927)Gag>Aag		Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						64	61	62					21																	31023467		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023467C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.925G>A	21.37:g.31023467C>T	ENSP00000382791:p.Glu309Lys		Somatic				GRIK1_uc002ynn.3_Missense_Mutation_p.E309K|GRIK1_uc011act.2_Missense_Mutation_p.E253K|GRIK1_uc002yno.1_Missense_Mutation_p.E309K|GRIK1_uc010glq.1_Missense_Mutation_p.E167K|GRIK1_uc002ynr.3_Missense_Mutation_p.E309K	p.E309K	NM_000830	NP_000821	WXS	Illumina GAIIx	Phase_I	P39086	GRIK1_HUMAN			5	1389	-			309					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.925G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913377	0.92178	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.91	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.33753	1.03	0.80722	D	1	P;P;B;P;P;P	0.46859	0.54;0.7;0.004;0.7;0.885;0.524	B;B;B;B;P;B	0.46320	0.188;0.244;0.003;0.244;0.512;0.04	T	0.01356	-1.1376	10	0.17832	T	0.49	.	18.233	0.89939	0.0:1.0:0.0:0.0	.	309;309;309;309;309;309	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	K	309;309;309;309;309;253;309;309;309;309	ENSP00000327687:E309K;ENSP00000373777:E309K;ENSP00000382797:E309K;ENSP00000382798:E309K;ENSP00000446326:E309K;ENSP00000373776:E309K;ENSP00000382791:E309K;ENSP00000382793:E309K;ENSP00000311646:E309K	ENSP00000311646:E309K	E	-	1	0	GRIK1	29945338	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	5.563000	0.67352	2.693000	0.91896	0.655000	0.94253	GAG		0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			11	62	0	0	0	1	0	11	62					T	31023467	C	T	31023467	3	4	265	1	0	0	0	0	1	0	0	0	6773	893	31	1	2039	1	GRIK1	21	31023467	Missense_Mutation	SNP	C	TCGA-EM-A3AI-01A-11D-A202-08		31023467	17106428	17	4652											
TRAPPC10	7109	broad.mit.edu	37	21	45511884	45511884	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:45511884A>G	ENST00000291574.4	+	19	3126	c.2951A>G	c.(2950-2952)gAt>gGt	p.D984G	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	984					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GATACCGGTGATAGTACCGAC	0.408																																						uc002zea.3																			0		p.G983D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2950-2952)gAt>gGt		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							189	182	185					21																	45511884		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45511884A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2951A>G	21.37:g.45511884A>G	ENSP00000291574:p.Asp984Gly		Somatic				TRAPPC10_uc010gpo.3_Missense_Mutation_p.D695G|TRAPPC10_uc011afa.2_Missense_Mutation_p.D362G|TRAPPC10_uc011afb.1_Missense_Mutation_p.D89G	p.D984G	NM_003274	NP_003265	WXS	Illumina GAIIx	Phase_I	P48553	TPC10_HUMAN			18	3120	+			984					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2951A>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	7.935	0.741514	0.15642	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.23950	1.88	5.28	-0.525	0.11917	.	0.633872	0.17006	N	0.190713	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.10450	0.005;0.001;0.0	T	0.27054	-1.0085	10	0.23302	T	0.38	.	5.6952	0.17851	0.5815:0.0:0.3039:0.1146	.	89;243;984	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	G	984;115	ENSP00000291574:D984G	ENSP00000291574:D984G	D	+	2	0	TRAPPC10	44336312	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.031000	0.12287	-0.043000	0.13513	0.460000	0.39030	GAT		0.408	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	123	0	0	0	1	0	4	123					G	45511884	A	G	45511884	3	3	265	1	0	0	0	0	1	0	0	0	16454	333	12	3	3025	3	TRAPPC10	21	45511884	Missense_Mutation	SNP	A	TCGA-EM-A3AI-01A-11D-A202-08	14488417	45511884	2618011	18	4653											
MST4	51765	broad.mit.edu	37	X	131205246	131205246	+	Splice_Site	SNP	G	G	A	rs181805052		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chrX:131205246G>A	ENST00000354719.6	+	8	1148		c.e8+1		MST4_ENST00000394335.2_Splice_Site|MST4_ENST00000496850.1_Splice_Site|MST4_ENST00000481105.1_Splice_Site|MST4_ENST00000394334.2_Splice_Site																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGATTCGTATGTACAAA	0.348																																						uc011mux.1																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.e9+1		Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.							97	98	98					X																	131205246		2203	4299	6502	SO:0001630	splice_region_variant	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131205246G>A																												ENST00000354719.6:c.932+1G>A	X.37:g.131205246G>A			Somatic				MST4_uc004ewk.1_Splice_Site_p.S311_splice|MST4_uc004ewl.1_Splice_Site_p.S234_splice|MST4_uc010nrj.1_Splice_Site_p.S311_splice|MST4_uc004ewm.1_Splice_Site_p.S249_splice	p.S333_splice	NM_016542	NP_057626	WXS	Illumina GAIIx	Phase_I	Q9P289	MST4_HUMAN			9	1299	+	Acute lymphoblastic leukemia(192;0.000127)		311						Splice_Site	SNP	ENST00000354719.6	37	c.998_splice		.	.	.	.	.	.	.	.	.	.	G	22.7	4.325722	0.81580	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4045	0.94643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AL109749.1	131032927	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.901000	0.92560	2.536000	0.85505	0.600000	0.82982	.		0.348	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		Intron	12	110	0	0	0	1	0	12	110					A	131205246	G	A	131205246	5	1	265	1	0	0	0	0	0	0	1	0	9892	1159	40	1	959	1	MST4	23	131205246	Splice_Site	SNP	G	TCGA-EM-A3AI-01A-11D-A202-08		131205246	24065314	19	4654											
PIK3CD	5293	broad.mit.edu	37	1	9783255	9783255	+	Silent	SNP	C	C	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr1:9783255C>G	ENST00000377346.4	+	20	2694	c.2499C>G	c.(2497-2499)acC>acG	p.T833T	PIK3CD_ENST00000536656.1_Silent_p.T857T|PIK3CD_ENST00000361110.2_Silent_p.T857T	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	833	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTTCAGACACCATCGCCAACA	0.607																																						uc001aqe.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2569-2571)acC>acG		Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.							138	135	136					1																	9783255		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783255C>G		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2499C>G	1.37:g.9783255C>G			Somatic				PIK3CD_uc001aqb.4_Silent_p.T833T|PIK3CD_uc010oaf.2_Silent_p.T832T|PIK3CD_uc021ogb.1_Silent_p.T617T	p.T857T	NM_005026	NP_005017	WXS	Illumina GAIIx	Phase_I	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	18	2779	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	833			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2571C>G	CCDS104.1																																																																																				0.607	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		7	239	0	0	0	1	0	7	239					G	9783255	C	G	9783255	2	3	266	1	0	0	0	0	0	0	0	1	11915	581	21	4		4	PIK3CD	1	9783255	Silent	SNP	C	TCGA-EM-A3AJ-01A-11D-A202-08		9783255	239467366	1	4655											
C6orf97	80129	broad.mit.edu	37	6	151939128	151939128	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr6:151939128T>G	ENST00000239374.7	+	11	2093	c.1994T>G	c.(1993-1995)gTg>gGg	p.V665G	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.V672G	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	665																	GGCTTGAACGTGACCAGCCTT	0.438																																						uc003qol.3																			0											c.(1993-1995)gTg>gGg		Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.							133	135	134					6																	151939128		2019	4174	6193	SO:0001583	missense	80129							g.chr6:151939128T>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1994T>G	6.37:g.151939128T>G	ENSP00000239374:p.Val665Gly		Somatic				U6_uc021zgw.1_5'Flank	p.V665G	NM_025059	NP_079335	WXS	Illumina GAIIx	Phase_I	Q8IYT3	CF097_HUMAN			10	2083	+			665					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1994T>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237480	0.58886	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10382	2.88;2.88	5.96	5.96	0.96718	.	1.008230	0.07950	N	0.980760	T	0.11879	0.0289	L	0.38175	1.15	0.45822	D	0.998696	D	0.55385	0.971	P	0.51453	0.67	T	0.03325	-1.1048	10	0.87932	D	0	-4.5932	16.4381	0.83884	0.0:0.0:0.0:1.0	.	665	Q8IYT3	CF097_HUMAN	G	665;672	ENSP00000239374:V665G;ENSP00000356259:V672G	ENSP00000239374:V665G	V	+	2	0	C6orf97	151980821	0.968000	0.33430	0.392000	0.26245	0.199000	0.23934	2.980000	0.49321	2.280000	0.76307	0.533000	0.62120	GTG		0.438	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		20	79	0	0	0	1	0	20	79					G	151939128	T	G	151939128	3	3	266	1	0	0	0	0	1	0	0	0	2374	1696	59	5	2036	5	C6orf97	6	151939128	Missense_Mutation	SNP	T	TCGA-EM-A3AJ-01A-11D-A202-08		151939128	19175939	2	4656											
CNTLN	54875	broad.mit.edu	37	9	17236437	17236437	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr9:17236437G>A	ENST00000380647.3	+	5	784	c.700G>A	c.(700-702)Gag>Aag	p.E234K	CNTLN_ENST00000380641.4_Missense_Mutation_p.E234K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E234K|CNTLN_ENST00000425824.1_Missense_Mutation_p.E234K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	234					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAACAAAGAAGAGCAAAACAG	0.383																																						uc003zmz.2																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(700-702)Gag>Aag		Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.							91	91	91					9																	17236437		1814	4084	5898	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17236437G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.700G>A	9.37:g.17236437G>A	ENSP00000370021:p.Glu234Lys		Somatic				CNTLN_uc003zmx.4_Missense_Mutation_p.E234K|CNTLN_uc003zmy.3_Missense_Mutation_p.E234K|CNTLN_uc010mio.3_5'UTR	p.E234K	NM_017738	NP_060208	WXS	Illumina GAIIx	Phase_I	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	4	726	+			234					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.700G>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229972	0.39399	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	5.59	5.59	0.84812	.	.	.	.	.	T	0.15998	0.0385	L	0.52364	1.645	0.41151	D	0.986026	P;P;B	0.51537	0.946;0.946;0.319	P;P;B	0.52758	0.708;0.708;0.069	T	0.00195	-1.1932	9	0.48119	T	0.1	.	12.5579	0.56265	0.0768:0.0:0.9232:0.0	.	234;234;234	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	K	234	ENSP00000370021:E234K;ENSP00000392798:E234K;ENSP00000262360:E234K;ENSP00000370015:E234K	ENSP00000262360:E234K	E	+	1	0	CNTLN	17226437	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.588000	0.74076	2.631000	0.89168	0.561000	0.74099	GAG		0.383	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	61	0	0	0	1	0	14	61					A	17236437	G	A	17236437	3	1	266	1	0	0	0	0	1	0	0	0	3639	943	33	2	718	2	CNTLN	9	17236437	Missense_Mutation	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		17236437	123976994	3	4657											
MCM10	55388	broad.mit.edu	37	10	13213015	13213015	+	Missense_Mutation	SNP	G	G	A	rs150335901		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr10:13213015G>A	ENST00000484800.2	+	3	204	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	MCM10_ENST00000378714.3_Missense_Mutation_p.R34Q|MCM10_ENST00000378694.1_Missense_Mutation_p.R34Q			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	34	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTCTTGACGCGGGAAAATGGC	0.488													G|||	1	0.000199681	8e-04	0	5008	,	,		19268	0		0	False		,,,				2504	0					uc001ima.3																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(100-102)cGg>cAg		Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	131	135	134		101,101	2.1	0.0	10	dbSNP_134	134	0,8600		0,0,4300	yes	missense,missense	MCM10	NM_018518.4,NM_182751.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	34/875,34/876	13213015	1,13005	2203	4300	6503	SO:0001583	missense	55388				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding	g.chr10:13213015G>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.101G>A	10.37:g.13213015G>A	ENSP00000418268:p.Arg34Gln		Somatic				MCM10_uc001imb.3_Missense_Mutation_p.R34Q|MCM10_uc001imc.3_Missense_Mutation_p.R34Q	p.R34Q	NM_182751	NP_877428	WXS	Illumina GAIIx	Phase_I	Q7L590	MCM10_HUMAN			2	229	+			34					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.101G>A	CCDS7096.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.025	-1.376880	0.01214	2.27E-4	0.0	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.13089	2.62;2.62;2.62	5.7	2.06	0.26882	.	0.509940	0.19624	N	0.109829	T	0.02727	0.0082	N	0.00707	-1.245	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	0.41945	-0.9480	10	0.10636	T	0.68	-10.2955	3.4039	0.07333	0.6472:0.0:0.1795:0.1733	.	34;34;34	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	Q	34	ENSP00000367986:R34Q;ENSP00000418268:R34Q;ENSP00000367966:R34Q	ENSP00000354945:R34Q	R	+	2	0	MCM10	13253021	0.011000	0.17503	0.029000	0.17559	0.005000	0.04900	0.071000	0.14594	0.392000	0.25172	-0.294000	0.09567	CGG		0.488	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		5	195	0	0	0	1	0	5	195					A	13213015	G	A	13213015	3	1	266	1	0	0	0	0	1	0	0	0	9385	1116	39	1	107	1	MCM10	10	13213015	Missense_Mutation	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		13213015	122321732	4	4658											
PVRL1	5818	broad.mit.edu	37	11	119548360	119548360	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr11:119548360A>G	ENST00000264025.3	-	3	1168	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PVRL1_ENST00000341398.2_Missense_Mutation_p.L213P|PVRL1_ENST00000340882.2_Missense_Mutation_p.L213P|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	213	Ig-like C2-type 1.				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)		GCTGGGCACCAGGCGGTAGCG	0.582																																						uc001pwv.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.(637-639)cTg>cCg		Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.							140	127	131					11																	119548360		2199	4295	6494	SO:0001583	missense	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.chr11:119548360A>G	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.638T>C	11.37:g.119548360A>G	ENSP00000264025:p.Leu213Pro		Somatic				PVRL1_uc001pwu.1_Missense_Mutation_p.L213P|PVRL1_uc001pww.3_Missense_Mutation_p.L213P	p.L213P	NM_002855	NP_002846	WXS	Illumina GAIIx	Phase_I	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	2	810	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	213			Ig-like C2-type 1.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.638T>C	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.266585	0.80358	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.79845	-1.31;-1.31;-1.31	5.21	5.21	0.72293	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.219003	0.39475	N	0.001352	D	0.89774	0.6812	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.90626	0.4563	9	.	.	.	.	14.2568	0.66058	1.0:0.0:0.0:0.0	.	213;213;213	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	P	213	ENSP00000344974:L213P;ENSP00000264025:L213P;ENSP00000345289:L213P	.	L	-	2	0	PVRL1	119053570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.121000	0.77160	1.983000	0.57843	0.454000	0.30748	CTG		0.582	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			3	106	0	0	0	1	0	3	106					G	119548360	A	G	119548360	3	3	266	1	0	0	0	0	1	0	0	0	12839	188	7	3	1377	3	PVRL1	11	119548360	Missense_Mutation	SNP	A	TCGA-EM-A3AJ-01A-11D-A202-08		119548360	15458156	5	4659											
NUAK1	9891	broad.mit.edu	37	12	106460871	106460871	+	Silent	SNP	G	G	A	rs142540856		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:106460871G>A	ENST00000261402.2	-	7	3074	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	565					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGGGCGGCTGTAGCTCCGGG	0.632																																						uc001tlj.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1693-1695)taC>taT		Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.		G		0,4404		0,0,2202	33	39	37		1695	2.9	1.0	12	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK1	NM_014840.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		565/662	106460871	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460871G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1695C>T	12.37:g.106460871G>A			Somatic					p.Y565Y	NM_014840	NP_055655	WXS	Illumina GAIIx	Phase_I	O60285	NUAK1_HUMAN			6	3075	-			565					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.1695C>T	CCDS31892.1																																																																																				0.632	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		8	50	0	0	0	1	0	8	50					A	106460871	G	A	106460871	2	1	266	1	0	0	0	0	0	0	0	1	10712	1372	48	2		2	NUAK1	12	106460871	Silent	SNP	G	TCGA-EM-A3AJ-01A-11D-A202-08		106460871	27391024	6	4660											
TRAFD1	10906	broad.mit.edu	37	12	112589709	112589709	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:112589709T>G	ENST00000257604.5	+	10	2001	c.1384T>G	c.(1384-1386)Tat>Gat	p.Y462D	TRAFD1_ENST00000412615.2_Missense_Mutation_p.Y462D|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	462					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GACAGCTACCTATAACCAGCT	0.542																																						uc001ttp.3																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1384-1386)Tat>Gat		Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.							132	142	138					12																	112589709		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112589709T>G	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1384T>G	12.37:g.112589709T>G	ENSP00000257604:p.Tyr462Asp		Somatic				TRAFD1_uc001tto.3_Missense_Mutation_p.Y462D	p.Y462D	NM_006700	NP_006691	WXS	Illumina GAIIx	Phase_I	O14545	TRAD1_HUMAN			9	1470	+			462					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.1384T>G	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	T	6.124	0.391055	0.11581	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.28666	1.6;1.6	6.16	3.84	0.44239	.	1.077110	0.06969	N	0.817797	T	0.22475	0.0542	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.24155	0.051	T	0.24261	-1.0165	10	0.49607	T	0.09	1.765	5.4628	0.16626	0.0:0.2404:0.0:0.7596	.	462	O14545	TRAD1_HUMAN	D	462	ENSP00000396526:Y462D;ENSP00000257604:Y462D	ENSP00000257604:Y462D	Y	+	1	0	TRAFD1	111074092	0.001000	0.12720	0.002000	0.10522	0.072000	0.16883	0.679000	0.25291	1.155000	0.42497	0.528000	0.53228	TAT		0.542	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		16	246	0	0	0	1	0	16	246					G	112589709	T	G	112589709	3	3	266	1	0	0	0	0	1	0	0	0	16444	1522	53	5	1418	5	TRAFD1	12	112589709	Missense_Mutation	SNP	T	TCGA-EM-A3AJ-01A-11D-A202-08	6128838	112589709	21262186	7	4661											
ADAMTS18	170692	broad.mit.edu	37	16	77396028	77396028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr16:77396028C>T	ENST00000282849.5	-	7	1608	c.1190G>A	c.(1189-1191)tGg>tAg	p.W397*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	397	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						TTCATTCTTCCAAGAACAAAT	0.398																																						uc002ffc.4																			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.(1189-1191)tGg>tAg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							145	125	132					16																	77396028		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77396028C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1190G>A	16.37:g.77396028C>T	ENSP00000282849:p.Trp397*		Somatic				ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Nonsense_Mutation_p.W93*|ADAMTS18_uc010vni.1_Intron	p.W397*	NM_199355	NP_955387	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			6	1609	-			397			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.1190G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	41	9.009370	0.99035	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.26	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3344	0.66578	0.1493:0.8507:0.0:0.0	.	.	.	.	X	397	.	ENSP00000282849:W397X	W	-	2	0	ADAMTS18	75953529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.604000	0.82830	1.412000	0.46977	0.655000	0.94253	TGG		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	27	0	0	0	1	0	7	27					T	77396028	C	T	77396028	4	4	266	1	0	0	0	0	0	1	0	0	263	595	21	2	2543	2	ADAMTS18	16	77396028	Nonsense_Mutation	SNP	C	TCGA-EM-A3AJ-01A-11D-A202-08		77396028	12958725	8	4662											
S100A6	6277	broad.mit.edu	37	1	153507784	153507784	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:153507784A>C	ENST00000368720.2	-	3	334	c.32T>G	c.(31-33)cTc>cGc	p.L11R	BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000496817.1_Missense_Mutation_p.L11R|S100A6_ENST00000368719.4_Missense_Mutation_p.L11R			P06703	S10A6_HUMAN	S100 calcium binding protein A6	11					axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACGAGGAGGCCAATGGC	0.602																																						uc001fbw.1																			0				ovary(1)	1						c.(31-33)cTc>cGc		Homo sapiens S100 calcium binding protein A6 (S100A6), mRNA.							95	91	92					1																	153507784		2203	4300	6503	SO:0001583	missense	6277				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	S100 beta binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|tropomyosin binding	g.chr1:153507784A>C	BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"S100 calcium binding proteins", "EF-hand domain containing"	10496	protein-coding gene	gene with protein product		114110	"S100 calcium-binding protein A6 (calcyclin)", "S100 calcium binding protein A6 (calcyclin)"	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.32T>G	1.37:g.153507784A>C	ENSP00000357709:p.Leu11Arg		Somatic					p.L11R	NM_014624	NP_055439	WXS	Illumina GAIIx	Phase_I	P06703	S10A6_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	346	-	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		11					D3DV39|Q5RHS4	Missense_Mutation	SNP	ENST00000368720.2	37	c.32T>G	CCDS1040.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192081	0.38707	.	.	ENSG00000197956	ENST00000368719;ENST00000368720	T;T	0.09445	2.98;2.98	4.94	-0.0395	0.13875	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.188416	0.35235	N	0.003351	T	0.02380	0.0073	.	.	.	0.09310	N	1	D	0.55172	0.97	B	0.43445	0.42	T	0.42816	-0.9429	9	0.42905	T	0.14	.	0.6905	0.00890	0.3505:0.3035:0.1806:0.1653	.	11	P06703	S10A6_HUMAN	R	11	ENSP00000357708:L11R;ENSP00000357709:L11R	ENSP00000357708:L11R	L	-	2	0	S100A6	151774408	0.000000	0.05858	0.199000	0.23439	0.810000	0.45777	0.267000	0.18552	0.681000	0.31386	0.459000	0.35465	CTC		0.602	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037723.2	NM_014624		6	81	0	0	0	1	0	6	81					C	153507784	A	C	153507784	3	2	267	1	0	0	0	0	1	0	0	0	13782	304	11	5	248	5	S100A6	1	153507784	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		153507784	95742837	1	4663											
C1orf101	257044	broad.mit.edu	37	1	244724433	244724433	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:244724433A>T	ENST00000366534.4	+	10	1547	c.1493A>T	c.(1492-1494)cAt>cTt	p.H498L	C1orf101_ENST00000366533.4_Missense_Mutation_p.H498L|C1orf101_ENST00000366531.3_Missense_Mutation_p.H347L|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	498						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGCATTATTCATGAAGTTTTC	0.328																																						uc001iam.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1492-1494)cAt>cTt		Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.							76	77	77					1																	244724433		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244724433A>T	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1493A>T	1.37:g.244724433A>T	ENSP00000355492:p.His498Leu		Somatic				C1orf101_uc001iak.1_Missense_Mutation_p.H52L|C1orf101_uc001ial.3_Missense_Mutation_p.H498L|C1orf101_uc010pym.2_Missense_Mutation_p.H347L|C1orf101_uc010pyn.2_Missense_Mutation_p.H431L	p.H498L	NM_001130957	NP_001124429	WXS	Illumina GAIIx	Phase_I	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		9	1552	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		498					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.1493A>T	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599365	0.66332	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.95	4.95	0.65309	.	0.231178	0.30401	N	0.009720	T	0.36524	0.0970	L	0.59436	1.845	0.21675	N	0.999599	D;P;P;P	0.54047	0.964;0.902;0.952;0.782	P;B;P;B	0.52481	0.7;0.442;0.677;0.274	T	0.25950	-1.0117	10	0.87932	D	0	.	11.275	0.49161	1.0:0.0:0.0:0.0	.	418;498;498;347	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	L	498;498;498;418;347	ENSP00000355492:H498L;ENSP00000355491:H498L;ENSP00000395796:H418L;ENSP00000355489:H347L	ENSP00000355489:H347L	H	+	2	0	C1orf101	242791056	0.995000	0.38212	0.303000	0.25071	0.423000	0.31445	4.595000	0.61048	1.974000	0.57490	0.460000	0.39030	CAT		0.328	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		6	92	0	0	0	1	0	6	92					T	244724433	A	T	244724433	3	4	267	1	0	0	0	0	1	0	0	0	1976	217	8	5	1531	5	C1orf101	1	244724433	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08	91216649	244724433	4526188	2	4664											
OR2M3	127062	broad.mit.edu	37	1	248367157	248367157	+	Missense_Mutation	SNP	C	C	T	rs373560980		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr1:248367157C>T	ENST00000456743.1	+	1	826	c.788C>T	c.(787-789)aCa>aTa	p.T263I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATACGGCCCACATCTGATCGC	0.502																																						uc010pzg.2																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(787-789)aCa>aTa		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.							193	177	183					1																	248367157		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367157C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.788C>T	1.37:g.248367157C>T	ENSP00000389625:p.Thr263Ile		Somatic					p.T263I	NM_001004689	NP_001004689	WXS	Illumina GAIIx	Phase_I	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	788	+	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)		263					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.788C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.832	0.337759	0.11013	.	.	ENSG00000228198	ENST00000456743	T	0.00152	8.66	2.54	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	1.523810	0.04885	U	0.448477	T	0.00109	0.0003	N	0.25992	0.78	0.09310	N	1	B	0.14438	0.01	B	0.21151	0.033	T	0.41016	-0.9532	10	0.48119	T	0.1	.	1.111	0.01704	0.3457:0.3385:0.1806:0.1352	.	263	Q8NG83	OR2M3_HUMAN	I	263	ENSP00000389625:T263I	ENSP00000389625:T263I	T	+	2	0	OR2M3	246433780	0.000000	0.05858	0.012000	0.15200	0.024000	0.10985	-2.394000	0.01054	1.420000	0.47138	0.398000	0.26397	ACA		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		67	125	0	0	0	1	0	67	125					T	248367157	C	T	248367157	3	4	267	1	0	0	0	0	1	0	0	0	11011	478	17	2	790	2	OR2M3	1	248367157	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08	3642724	248367157	883464	3	4665											
GALNTL2	117248	broad.mit.edu	37	3	16254129	16254129	+	Silent	SNP	C	C	T	rs185944497	byFrequency	TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr3:16254129C>T	ENST00000339732.5	+	6	1754	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	GALNT15_ENST00000437509.1_Silent_p.H417H	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	417	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGGTAGGACACATCTACCAAA	0.532																																						uc003car.4																			0				NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						c.(1249-1251)caC>caT		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.							107	90	96					3																	16254129		2203	4300	6503	SO:0001819	synonymous_variant	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16254129C>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1251C>T	3.37:g.16254129C>T			Somatic				GALNTL2_uc003caq.4_Silent_p.H150H	p.H417H	NM_054110	NP_473451	WXS	Illumina GAIIx	Phase_I	Q8N3T1	GLTL2_HUMAN			5	1726	+			417			Catalytic subdomain B.		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1251C>T	CCDS33711.1																																																																																				0.532	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		21	43	0	0	0	1	0	21	43					T	16254129	C	T	16254129	2	4	267	1	0	0	0	0	0	0	0	1	6222	477	17	2		2	GALNTL2	3	16254129	Silent	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		16254129	181768301	4	4666											
MCC	4163	broad.mit.edu	37	5	112420872	112420872	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr5:112420872G>A	ENST00000302475.4	-	7	1527	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	MCC_ENST00000515367.2_Missense_Mutation_p.P259S|MCC_ENST00000408903.3_Missense_Mutation_p.P512S|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	322					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGGCGATGGGAATGTCATTG	0.612																																						uc003kql.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1534-1536)Ccc>Tcc		Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.							178	167	171					5																	112420872		2202	4300	6502	SO:0001583	missense	4163				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112420872G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.964C>T	5.37:g.112420872G>A	ENSP00000305617:p.Pro322Ser		Somatic				MCC_uc003kqj.4_Missense_Mutation_p.P322S|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.P322S|MCC_uc010jcd.1_Missense_Mutation_p.P284S	p.P512S	NM_001085377	NP_001078846	WXS	Illumina GAIIx	Phase_I	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	8	1950	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	322					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1534C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726411	0.89298	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.54479	1.68;1.69;0.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.78314	0.968;0.968;0.991;0.968	T	0.59348	-0.7471	10	0.33141	T	0.24	-34.2366	19.8927	0.96935	0.0:0.0:1.0:0.0	.	322;284;512;322	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	S	322;259;512	ENSP00000305617:P322S;ENSP00000421615:P259S;ENSP00000386227:P512S	ENSP00000305617:P322S	P	-	1	0	MCC	112448771	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.562000	0.82300	2.711000	0.92665	0.655000	0.94253	CCC		0.612	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		28	124	0	0	0	1	0	28	124					A	112420872	G	A	112420872	3	1	267	1	0	0	0	0	1	0	0	0	9373	1174	41	2	1569	2	MCC	5	112420872	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08		112420872	68494388	5	4667											
GRM1	2911	broad.mit.edu	37	6	146351093	146351093	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr6:146351093T>C	ENST00000282753.1	+	1	675	c.440T>C	c.(439-441)cTc>cCc	p.L147P	GRM1_ENST00000361719.2_Missense_Mutation_p.L147P|GRM1_ENST00000492807.2_Missense_Mutation_p.L147P|GRM1_ENST00000507907.1_Missense_Mutation_p.L147P|GRM1_ENST00000355289.4_Missense_Mutation_p.L147P|GRM1_ENST00000392299.2_Missense_Mutation_p.L147P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	147					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCCAGTCCCTCCCCCCAGGC	0.562																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(439-441)cTc>cCc		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						69	71	71					6																	146351093		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351093T>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.440T>C	6.37:g.146351093T>C	ENSP00000282753:p.Leu147Pro		Somatic				GRM1_uc010khu.1_Missense_Mutation_p.L147P|GRM1_uc010khv.1_Missense_Mutation_p.L147P|GRM1_uc003qll.2_Missense_Mutation_p.L147P|GRM1_uc011edz.1_Missense_Mutation_p.L147P|GRM1_uc011eea.1_Missense_Mutation_p.L147P	p.L147P	NM_000838	NP_000829	WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	1	910	+		Ovarian(120;0.0387)	147					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.440T>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	9.850	1.193326	0.22037	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.69	1.72	0.24424	Extracellular ligand-binding receptor (1);	0.464258	0.25014	N	0.033816	T	0.44095	0.1277	N	0.11560	0.145	0.52501	D	0.999958	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.37888	-0.9686	10	0.30854	T	0.27	.	3.6447	0.08180	0.3196:0.2016:0.0:0.4788	.	147;147;142;147	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	P	147	ENSP00000354896:L147P;ENSP00000376119:L147P;ENSP00000424095:L147P;ENSP00000282753:L147P;ENSP00000347437:L147P;ENSP00000425599:L147P	ENSP00000282753:L147P	L	+	2	0	GRM1	146392786	0.857000	0.29778	1.000000	0.80357	0.775000	0.43874	2.689000	0.46993	0.959000	0.37980	0.459000	0.35465	CTC		0.562	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		3	113	0	0	0	1	0	3	113					C	146351093	T	C	146351093	3	2	267	1	0	0	0	0	1	0	0	0	6796	1551	54	3	442	3	GRM1	6	146351093	Missense_Mutation	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08		146351093	24763974	6	4668											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	58	0	0	0	1	0	35	58					T	140453136	A	T	140453136	3	4	267	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		140453136	18685527	7	4669											
SLC45A4	57210	broad.mit.edu	37	8	142231785	142231785	+	Silent	SNP	A	A	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr8:142231785A>T	ENST00000024061.3	-	2	475	c.168T>A	c.(166-168)tcT>tcA	p.S56S	SLC45A4_ENST00000433583.2_Silent_p.S49S|SLC45A4_ENST00000517878.1_Silent_p.S107S|SLC45A4_ENST00000519067.1_Silent_p.S56S	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)			GGTCACTCGCAGACCCAATGA	0.632																																						uc003ywd.1																			0				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						c.(166-168)tcT>tcA		Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.							94	87	90					8																	142231785		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231785A>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.168T>A	8.37:g.142231785A>T			Somatic				SLC45A4_uc003ywc.1_Silent_p.S56S|SLC45A4_uc010meq.1_Silent_p.S54S	p.S56S	NM_001080431	NP_001073900	WXS	Illumina GAIIx	Phase_I	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		1	476	-	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)		107					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.168T>A	CCDS34948.1																																																																																				0.632	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		11	88	0	0	0	1	0	11	88					T	142231785	A	T	142231785	2	4	267	1	0	0	0	0	0	0	0	1	14643	175	7	5		5	SLC45A4	8	142231785	Silent	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		142231785	4132237	8	4670											
VPS13A	23230	broad.mit.edu	37	9	79867160	79867160	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr9:79867160G>C	ENST00000360280.3	+	22	2440	c.2180G>C	c.(2179-2181)tGg>tCg	p.W727S	VPS13A_ENST00000376634.4_Missense_Mutation_p.W727S|VPS13A_ENST00000357409.5_Missense_Mutation_p.W727S|VPS13A_ENST00000376636.3_Missense_Mutation_p.W727S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	727					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTGATAATTGGAGAGAAGCA	0.343																																						uc004akr.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2179-2181)tGg>tCg		Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.							174	165	168					9																	79867160		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79867160G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2180G>C	9.37:g.79867160G>C	ENSP00000353422:p.Trp727Ser		Somatic				VPS13A_uc004akp.4_Missense_Mutation_p.W727S|VPS13A_uc004akq.4_Missense_Mutation_p.W727S|VPS13A_uc004aks.3_Missense_Mutation_p.W727S	p.W727S	NM_033305	NP_150648	WXS	Illumina GAIIx	Phase_I	Q96RL7	VP13A_HUMAN			21	2440	+			727					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2180G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094153	0.76870	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.46	5.46	0.80206	.	0.068850	0.64402	D	0.000006	T	0.69106	0.3074	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.971;0.999;1.0;1.0	T	0.68849	-0.5300	10	0.33940	T	0.23	.	18.9119	0.92489	0.0:0.0:1.0:0.0	.	727;727;727;727	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	727	ENSP00000365821:W727S;ENSP00000365823:W727S;ENSP00000353422:W727S;ENSP00000349985:W727S	ENSP00000349985:W727S	W	+	2	0	VPS13A	79056980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.938000	0.87678	2.552000	0.86080	0.561000	0.74099	TGG		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	104	0	0	0	1	0	3	104					C	79867160	G	C	79867160	3	2	267	1	0	0	0	0	1	0	0	0	17186	1357	47	4	2266	4	VPS13A	9	79867160	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08		79867160	61346271	9	4671											
IL22	50616	broad.mit.edu	37	12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr12:68646552C>T	ENST00000538666.1	-	3	314	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_ENST00000328087.4_Missense_Mutation_p.G82R			Q9GZX6	IL22_HUMAN	interleukin 22	82					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498																																						uc001sty.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(244-246)Gga>Aga		Homo sapiens interleukin 22 (IL22), mRNA.							136	117	123					12																	68646552		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646552C>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"Interleukins and interleukin receptors"	14900	protein-coding gene	gene with protein product	"IL-10-related T-cell-derived inducible factor"	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.244G>A	12.37:g.68646552C>T	ENSP00000442424:p.Gly82Arg		Somatic				IL22_uc010stb.1_Missense_Mutation_p.G82R	p.G82R	NM_020525	NP_065386	WXS	Illumina GAIIx	Phase_I	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	1	297	-		Myeloproliferative disorder(1001;0.0255)	82						Missense_Mutation	SNP	ENST00000538666.1	37	c.244G>A	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.709901	0.48517	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.44482	0.92;0.92	5.13	5.13	0.70059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.319863	0.26383	N	0.024685	T	0.60521	0.2275	M	0.72118	2.19	0.34206	D	0.673707	D	0.89917	1.0	D	0.97110	1.0	T	0.69785	-0.5051	9	.	.	.	-8.155	10.4182	0.44335	0.0:0.9088:0.0:0.0912	.	82	Q9GZX6	IL22_HUMAN	R	82	ENSP00000442424:G82R;ENSP00000329384:G82R	.	G	-	1	0	IL22	66932819	0.451000	0.25705	0.916000	0.36221	0.145000	0.21501	1.230000	0.32612	2.768000	0.95171	0.558000	0.71614	GGA		0.498	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		4	82	0	0	0	1	0	4	82					T	68646552	C	T	68646552	3	4	267	1	0	0	0	0	1	0	0	0	7672	661	23	1	311	1	IL22	12	68646552	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		68646552	65205343	10	4672											
C15orf43	145645	broad.mit.edu	37	15	45249168	45249168	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:45249168A>G	ENST00000340827.3	+	2	156	c.139A>G	c.(139-141)Acg>Gcg	p.T47A		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	47										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GCACCCAGACACGCTGAGGTA	0.552																																						uc001zuk.3																			0				NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(139-141)Acg>Gcg		Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.							51	46	48					15																	45249168		2198	4298	6496	SO:0001583	missense	145645							g.chr15:45249168A>G	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.139A>G	15.37:g.45249168A>G	ENSP00000340644:p.Thr47Ala		Somatic					p.T47A	NM_152448	NP_689661	WXS	Illumina GAIIx	Phase_I	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	1	153	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	47						Missense_Mutation	SNP	ENST00000340827.3	37	c.139A>G	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	-	20.3	3.963289	0.74016	.	.	ENSG00000167014	ENST00000340827	T	0.61859	0.07	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000014	T	0.64204	0.2577	L	0.34521	1.04	0.34723	D	0.728974	D	0.67145	0.996	D	0.77557	0.99	T	0.74355	-0.3692	10	0.87932	D	0	.	10.9641	0.47401	1.0:0.0:0.0:0.0	.	47	Q8NHR7	CO043_HUMAN	A	47	ENSP00000340644:T47A	ENSP00000340644:T47A	T	+	1	0	C15orf43	43036460	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.637000	0.61346	2.153000	0.67306	0.523000	0.50628	ACG		0.552	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		3	62	0	0	0	1	0	3	62					G	45249168	A	G	45249168	3	3	267	1	0	0	0	0	1	0	0	0	1797	159	6	3	145	3	C15orf43	15	45249168	Missense_Mutation	SNP	A	TCGA-EM-A3AK-01A-11D-A202-08		45249168	57282224	11	4673											
ALPK3	57538	broad.mit.edu	37	15	85401117	85401117	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr15:85401117G>A	ENST00000258888.5	+	6	3921	c.3754G>A	c.(3754-3756)Gct>Act	p.A1252T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1252					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGAGGTGCAGGCTGGCCGCCA	0.682																																						uc002ble.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3754-3756)Gct>Act		Homo sapiens alpha-kinase 3 (ALPK3), mRNA.							30	21	24					15																	85401117		2198	4289	6487	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401117G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3754G>A	15.37:g.85401117G>A	ENSP00000258888:p.Ala1252Thr		Somatic					p.A1252T	NM_020778	NP_065829	WXS	Illumina GAIIx	Phase_I	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	3921	+			1252					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.3754G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475416	0.63737	.	.	ENSG00000136383	ENST00000258888	T	0.64618	-0.11	5.21	4.2	0.49525	.	0.730379	0.13446	N	0.387243	T	0.43299	0.1241	N	0.19112	0.55	0.28159	N	0.929075	P	0.40970	0.734	B	0.37601	0.254	T	0.16541	-1.0399	10	0.12766	T	0.61	-4.6111	11.7231	0.51693	0.0:0.0:0.8117:0.1883	.	1252	Q96L96	ALPK3_HUMAN	T	1252	ENSP00000258888:A1252T	ENSP00000258888:A1252T	A	+	1	0	ALPK3	83202121	0.998000	0.40836	0.998000	0.56505	0.945000	0.59286	2.008000	0.40893	2.427000	0.82271	0.563000	0.77884	GCT		0.682	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		3	27	0	0	0	1	0	3	27					A	85401117	G	A	85401117	3	1	267	1	0	0	0	0	1	0	0	0	546	1203	42	2	3776	2	ALPK3	15	85401117	Missense_Mutation	SNP	G	TCGA-EM-A3AK-01A-11D-A202-08	40151949	85401117	17130275	12	4674											
CFD	1675	broad.mit.edu	37	19	860954	860954	+	Silent	SNP	C	C	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:860954C>A	ENST00000327726.6	+	3	543	c.306C>A	c.(304-306)ccC>ccA	p.P102P	CFD_ENST00000592860.1_Silent_p.P109P	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGCAGTGCCCCACCCGGACA	0.721																																						uc002lqc.3																			0											c.(304-306)ccC>ccA		Homo sapiens complement factor D (adipsin) (CFD), mRNA.							21	19	20					19																	860954		2191	4282	6473	SO:0001819	synonymous_variant	1675				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity	g.chr19:860954C>A	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"Complement system"	2771	protein-coding gene	gene with protein product		134350	"D component of complement (adipsin)", "properdin factor D"	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.306C>A	19.37:g.860954C>A			Somatic					p.P102P	NM_001928	NP_001919	WXS	Illumina GAIIx	Phase_I	P00746	CFAD_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	331	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	102			Peptidase S1.		B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Silent	SNP	ENST00000327726.6	37	c.306C>A	CCDS12046.1																																																																																				0.721	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		3	20	0	0	0	1	0	3	20					A	860954	C	A	860954	2	1	267	1	0	0	0	0	0	0	0	1	3281	610	22	4		4	CFD	19	860954	Silent	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08		860954	58268029	13	4675											
ZNF799	90576	broad.mit.edu	37	19	12502822	12502822	+	Silent	SNP	T	T	C			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:12502822T>C	ENST00000430385.3	-	4	590	c.390A>G	c.(388-390)ccA>ccG	p.P130P	ZNF799_ENST00000419318.1_Silent_p.P98P|CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Silent_p.P130P	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	130					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)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GATACTCATATGGTTTGTGCC	0.443																																						uc010dyt.3																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(388-390)ccA>ccG		Homo sapiens zinc finger protein 799 (ZNF799), mRNA.							169	155	159					19																	12502822		2203	4300	6503	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12502822T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.390A>G	19.37:g.12502822T>C			Somatic				ZNF799_uc002mts.4_Intron	p.P130P	NM_001080821	NP_001074290	WXS	Illumina GAIIx	Phase_I	Q96GE5	ZN799_HUMAN			3	594	-			130						Silent	SNP	ENST00000430385.3	37	c.390A>G	CCDS45989.1																																																																																				0.443	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	139	0	0	0	1	0	5	139					C	12502822	T	C	12502822	2	2	267	1	0	0	0	0	0	0	0	1	18163	1451	51	3		3	ZNF799	19	12502822	Silent	SNP	T	TCGA-EM-A3AK-01A-11D-A202-08	11641868	12502822	46626161	14	4676											
RHPN2	85415	broad.mit.edu	37	19	33493198	33493198	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AK-01A-11D-A202-08	TCGA-EM-A3AK-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	815390f2-b204-4cf0-83be-831e4aa3fa54	685117cd-be36-48a9-ad48-fbb85198ef57	g.chr19:33493198C>A	ENST00000254260.3	-	9	1095	c.1060G>T	c.(1060-1062)Gcc>Tcc	p.A354S	RHPN2_ENST00000400226.4_Missense_Mutation_p.A203S	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	354	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				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)					TGGGCCAGGGCCGCGTAGTGG	0.642																																						uc002nuf.3																			0		p.A353T(2)		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.(1060-1062)Gcc>Tcc		Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.							49	46	47					19																	33493198		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33493198C>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1060G>T	19.37:g.33493198C>A	ENSP00000254260:p.Ala354Ser		Somatic				RHPN2_uc010xro.2_Missense_Mutation_p.A203S|RHPN2_uc002nue.3_Missense_Mutation_p.A84S	p.A354S	NM_033103	NP_149094	WXS	Illumina GAIIx	Phase_I	Q8IUC4	RHPN2_HUMAN			8	1126	-	Esophageal squamous(110;0.137)		354			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1060G>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530200	0.45073	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.31510	1.49;1.49	4.61	4.61	0.57282	BRO1 domain (3);	0.049943	0.85682	D	0.000000	T	0.27594	0.0678	L	0.35593	1.075	0.58432	D	0.999994	B	0.31655	0.334	B	0.34385	0.181	T	0.05209	-1.0899	10	0.26408	T	0.33	-19.8851	17.8058	0.88600	0.0:1.0:0.0:0.0	.	354	Q8IUC4	RHPN2_HUMAN	S	354;84;203	ENSP00000254260:A354S;ENSP00000402244:A203S	ENSP00000254260:A354S	A	-	1	0	RHPN2	38185038	0.997000	0.39634	0.915000	0.36163	0.488000	0.33401	3.585000	0.53943	2.255000	0.74692	0.455000	0.32223	GCC		0.642	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		5	59	0	0	0	1	0	5	59					A	33493198	C	A	33493198	3	1	267	1	0	0	0	0	1	0	0	0	13351	739	26	4	1028	4	RHPN2	19	33493198	Missense_Mutation	SNP	C	TCGA-EM-A3AK-01A-11D-A202-08	20990376	33493198	25635785	15	4677											
PRKD3	23683	broad.mit.edu	37	2	37496767	37496767	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr2:37496767C>T	ENST00000379066.1	-	13	2530	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I	PRKD3_ENST00000234179.2_Missense_Mutation_p.V590I			O94806	KPCD3_HUMAN	protein kinase D3	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CCTCCATAAACGATGCCAAAC	0.368																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.3																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1768-1770)Gtt>Att		Homo sapiens protein kinase D3 (PRKD3), mRNA.							89	83	85					2																	37496767		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37496767C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1768G>A	2.37:g.37496767C>T	ENSP00000368356:p.Val590Ile		Somatic				PRKD3_uc002rqe.1_Missense_Mutation_p.V190I|PRKD3_uc002rqf.1_Missense_Mutation_p.V590I	p.V590I	NM_005813	NP_005804	WXS	Illumina GAIIx	Phase_I	O94806	KPCD3_HUMAN			11	2323	-		all_hematologic(82;0.21)	590			Protein kinase.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1768G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185843	0.94885	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.71579	-0.58;-0.58;-0.58	5.23	5.23	0.72850	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	0.86826	0.6026	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.88874	0.3335	10	0.87932	D	0	-19.5163	19.1746	0.93599	0.0:1.0:0.0:0.0	.	590;590	O94806-2;O94806	.;KPCD3_HUMAN	I	590;590;101	ENSP00000368356:V590I;ENSP00000234179:V590I;ENSP00000398743:V101I	ENSP00000234179:V590I	V	-	1	0	PRKD3	37350271	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	7.775000	0.85489	2.587000	0.87381	0.563000	0.77884	GTT		0.368	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		3	56	0	0	0	1	0	3	56					T	37496767	C	T	37496767	3	4	268	1	0	0	0	0	1	0	0	0	12520	536	19	1	932	1	PRKD3	2	37496767	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		37496767	205702606	1	4678											
GOLGA4	2803	broad.mit.edu	37	3	37323489	37323489	+	Missense_Mutation	SNP	G	G	A	rs7612972		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:37323489G>A	ENST00000361924.2	+	3	577	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	GOLGA4_ENST00000444882.1_Missense_Mutation_p.R68Q|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R90Q|GOLGA4_ENST00000435830.2_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	68					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						CTCCAGCTCCGGGTGCCCTCC	0.443																																						uc003cgw.3																			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.(268-270)cGg>cAg		Homo sapiens golgin A4 (GOLGA4), transcript variant 1, mRNA.							79	90	86					3																	37323489		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37323489G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.203G>A	3.37:g.37323489G>A	ENSP00000354486:p.Arg68Gln		Somatic				GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgv.3_Missense_Mutation_p.R68Q|GOLGA4_uc010hgs.3_Missense_Mutation_p.R68Q|GOLGA4_uc003cgx.3_5'Flank|GOLGA4_uc003cgu.2_Missense_Mutation_p.R90Q	p.R90Q	NM_001172713	NP_001166184	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			3	629	+			68					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.269G>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128376	0.94473	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863	T;T	0.24723	1.87;1.84	5.68	5.68	0.88126	.	0.000000	0.32736	N	0.005713	T	0.47857	0.1468	L	0.50333	1.59	0.42190	D	0.991729	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.922;0.996;0.996;0.998	T	0.18967	-1.0320	10	0.37606	T	0.19	.	19.786	0.96437	0.0:0.0:1.0:0.0	rs7612972	68;90;68;90	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	Q	68;68;90;90	ENSP00000354486:R68Q;ENSP00000349305:R90Q	ENSP00000349305:R90Q	R	+	2	0	GOLGA4	37298493	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.071000	0.64382	2.676000	0.91093	0.563000	0.77884	CGG		0.443	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		3	92	0	0	0	1	0	3	92					A	37323489	G	A	37323489	3	1	268	1	0	0	0	0	1	0	0	0	6555	1116	39	1	283	1	GOLGA4	3	37323489	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		37323489	160698941	2	4679											
GPR156	165829	broad.mit.edu	37	3	119886716	119886716	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:119886716C>A	ENST00000464295.1	-	10	2053	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D	GPR156_ENST00000461057.1_Missense_Mutation_p.E532D|GPR156_ENST00000315843.3_Missense_Mutation_p.E536D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	536						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GTGACCGCCGCTCTGGGGGCT	0.592																																						uc011bjf.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1606-1608)gaG>gaT		Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.							101	121	114					3																	119886716		2202	4300	6502	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886716C>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1608G>T	3.37:g.119886716C>A	ENSP00000417261:p.Glu536Asp		Somatic				GPR156_uc011bjg.2_Missense_Mutation_p.E532D	p.E536D	NM_153002	NP_694547	WXS	Illumina GAIIx	Phase_I	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	8	1988	-			536					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1608G>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213543	0.39102	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.27557	1.66;1.66;1.66	5.28	3.49	0.39957	.	1.012330	0.07924	N	0.976416	T	0.27832	0.0685	L	0.56769	1.78	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.27608	0.081;0.081	T	0.13899	-1.0492	9	.	.	.	0.5253	10.6155	0.45447	0.0:0.8465:0.0:0.1535	.	532;536	E9PFZ4;Q8NFN8	.;GP156_HUMAN	D	536;536;532	ENSP00000417261:E536D;ENSP00000324553:E536D;ENSP00000418758:E532D	.	E	-	3	2	GPR156	121369406	0.073000	0.21202	0.002000	0.10522	0.013000	0.08279	1.260000	0.32968	0.804000	0.34136	0.563000	0.77884	GAG		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		6	315	0	0	0	1	0	6	315					A	119886716	C	A	119886716	3	1	268	1	0	0	0	0	1	0	0	0	6661	796	28	4	840	4	GPR156	3	119886716	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	82563227	119886716	78135714	3	4680											
LAMP3	27074	broad.mit.edu	37	3	182841901	182841901	+	Missense_Mutation	SNP	T	T	A	rs182955501		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:182841901T>A	ENST00000265598.3	-	6	1474	c.1219A>T	c.(1219-1221)Agg>Tgg	p.R407W	LAMP3_ENST00000466939.1_Missense_Mutation_p.R383W	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	407					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATTGACACCTTAGGCGGATT	0.458																																						uc003flh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(1219-1221)Agg>Tgg		Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.							137	129	131					3																	182841901		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841901T>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1219A>T	3.37:g.182841901T>A	ENSP00000265598:p.Arg407Trp		Somatic					p.R407W	NM_014398	NP_055213	WXS	Illumina GAIIx	Phase_I	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		5	1443	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		407					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.1219A>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807035	0.70797	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.46063	0.88;0.88	5.92	5.92	0.95590	.	0.300884	0.28754	N	0.014258	T	0.63604	0.2525	M	0.74881	2.28	0.09310	N	1	D	0.65815	0.995	D	0.74023	0.982	T	0.61108	-0.7129	10	0.87932	D	0	-4.9155	12.7552	0.57331	0.0:0.0:0.0:1.0	.	407	Q9UQV4	LAMP3_HUMAN	W	407;383	ENSP00000265598:R407W;ENSP00000418912:R383W	ENSP00000265598:R407W	R	-	1	2	LAMP3	184324595	0.003000	0.15002	0.036000	0.18154	0.732000	0.41865	1.137000	0.31479	2.270000	0.75569	0.459000	0.35465	AGG		0.458	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			5	145	0	0	0	1	0	5	145					A	182841901	T	A	182841901	3	1	268	1	0	0	0	0	1	0	0	0	8619	1608	56	5	35	5	LAMP3	3	182841901	Missense_Mutation	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08	62955185	182841901	15180529	4	4681											
FRYL	285527	broad.mit.edu	37	4	48501632	48501632	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr4:48501632A>G	ENST00000503238.1	-	61	8848	c.8849T>C	c.(8848-8850)aTa>aCa	p.I2950T	FRYL_ENST00000537810.1_Missense_Mutation_p.I2950T|FRYL_ENST00000507873.2_Missense_Mutation_p.I340T|FRYL_ENST00000358350.4_Missense_Mutation_p.I2950T|FRYL_ENST00000264319.7_Missense_Mutation_p.I340T			O94915	FRYL_HUMAN	FRY-like	2950					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATGGAAATATATATGTAACAG	0.418																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8848-8850)aTa>aCa		Homo sapiens FRY-like (FRYL), mRNA.							121	115	117					4																	48501632		1867	4107	5974	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48501632A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8849T>C	4.37:g.48501632A>G	ENSP00000426064:p.Ile2950Thr		Somatic				FRYL_uc003gye.1_Missense_Mutation_p.I132T|FRYL_uc003gyf.1_Missense_Mutation_p.I340T|FRYL_uc003gyg.1_Missense_Mutation_p.I1640T	p.I2950T	NM_015030	NP_055845	WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			63	9454	-			2950					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8849T>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632408	0.67015	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.27104	1.7;1.7;1.69	5.63	5.63	0.86233	.	0.000000	0.64402	U	0.000001	T	0.49558	0.1564	M	0.62723	1.935	0.80722	D	1	P;D;D	0.89917	0.945;0.982;1.0	P;D;D	0.87578	0.83;0.918;0.998	T	0.50642	-0.8804	10	0.72032	D	0.01	.	15.8208	0.78644	1.0:0.0:0.0:0.0	.	2950;2950;340	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	T	2950;2950;2950;340;340	ENSP00000426064:I2950T;ENSP00000351113:I2950T;ENSP00000441114:I2950T	ENSP00000264319:I340T	I	-	2	0	FRYL	48196389	1.000000	0.71417	0.914000	0.36105	0.698000	0.40448	9.335000	0.96500	2.136000	0.66102	0.397000	0.26171	ATA		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	98	0	0	0	1	0	4	98					G	48501632	A	G	48501632	3	3	268	1	0	0	0	0	1	0	0	0	6064	449	16	3	196	3	FRYL	4	48501632	Missense_Mutation	SNP	A	TCGA-EM-A3AL-01A-11D-A202-08		48501632	142652644	5	4682											
MRPS30	10884	broad.mit.edu	37	5	44809124	44809124	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:44809124C>T	ENST00000507110.1	+	1	98	c.60C>T	c.(58-60)acC>acT	p.T20T	RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	20					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CATTGCACACCGCGGCTAATG	0.647																																						uc003joh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(58-60)acC>acT		Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.							11	12	11					5																	44809124		2160	4252	6412	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809124C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.60C>T	5.37:g.44809124C>T			Somatic				MRPS30_uc003joi.1_5'Flank	p.T20T	NM_016640	NP_057724	WXS	Illumina GAIIx	Phase_I	Q9NP92	RT30_HUMAN			0	98	+	Lung NSC(6;8.08e-07)		20					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.60C>T	CCDS3951.1																																																																																				0.647	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		8	9	0	0	0	1	0	8	9					T	44809124	C	T	44809124	2	4	268	1	0	0	0	0	0	0	0	1	9840	639	23	1		1	MRPS30	5	44809124	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		44809124	136106136	6	4683											
NAIP	4671	broad.mit.edu	37	5	70308276	70308276	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:70308276T>C	ENST00000517649.1	-	4	757	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.Y156C|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.Y156C	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	156					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		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)		CTCTTCTTGGTACCTCATTTT	0.468																																						uc003kar.1																			0				central_nervous_system(1)	1						c.(466-468)tAc>tGc		Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.							209	157	175					5																	70308276		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308276T>C	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.467A>G	5.37:g.70308276T>C	ENSP00000428657:p.Tyr156Cys		Somatic				NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Y156C|NAIP_uc003kas.1_Intron	p.Y156C	NM_004536	NP_004527	WXS	Illumina GAIIx	Phase_I	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	1185	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	156					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.467A>G	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	t	8.868	0.948498	0.18356	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.04551	3.6;3.6;3.6	3.26	3.26	0.37387	Baculoviral inhibition of apoptosis protein repeat (1);	.	.	.	.	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B;P	0.41008	0.084;0.735	B;B	0.34385	0.012;0.181	T	0.37549	-0.9701	9	0.72032	D	0.01	.	11.4969	0.50413	0.0:0.0:0.0:1.0	.	156;156	E7EQW0;Q13075	.;BIRC1_HUMAN	C	156	ENSP00000428657:Y156C;ENSP00000443944:Y156C;ENSP00000429545:Y156C	ENSP00000443944:Y156C	Y	-	2	0	NAIP	70344032	0.563000	0.26594	0.015000	0.15790	0.410000	0.31052	2.179000	0.42528	1.722000	0.51474	0.358000	0.22013	TAC		0.468	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		3	124	0	0	0	1	0	3	124					C	70308276	T	C	70308276	3	2	268	1	0	0	0	0	1	0	0	0	10147	1638	57	3	3800	3	NAIP	5	70308276	Missense_Mutation	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08	25499152	70308276	110606984	7	4684											
OR2J2	26707	broad.mit.edu	37	6	29141930	29141930	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:29141930G>A	ENST00000377167.2	+	1	620	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGGACATCGCCTAGTGGAT	0.468																																						uc011dlm.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(517-519)cGc>cAc		Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.							194	175	181					6																	29141930		1946	4142	6088	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141930G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.518G>A	6.37:g.29141930G>A	ENSP00000366372:p.Arg173His		Somatic					p.R173H	NM_030905	NP_112167	WXS	Illumina GAIIx	Phase_I	O76002	OR2J2_HUMAN			0	620	+			173					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.518G>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395248	0.04899	.	.	ENSG00000204700	ENST00000377167	T	0.00107	8.72	2.3	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16307	0.4	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.01635	-1.1307	9	0.21540	T	0.41	.	8.1128	0.30924	0.7892:0.0:0.2108:0.0	.	173	O76002	OR2J2_HUMAN	H	173	ENSP00000366372:R173H	ENSP00000366372:R173H	R	+	2	0	OR2J2	29249909	0.000000	0.05858	0.981000	0.43875	0.440000	0.31957	0.289000	0.18957	-0.483000	0.06772	0.205000	0.17691	CGC		0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			44	171	0	0	0	1	0	44	171					A	29141930	G	A	29141930	3	1	268	1	0	0	0	0	1	0	0	0	11003	1087	38	1	520	1	OR2J2	6	29141930	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		29141930	141973137	8	4685											
BAI3	577	broad.mit.edu	37	6	70034893	70034893	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:70034893C>T	ENST00000370598.1	+	21	3765	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	BAI3_ENST00000238918.8_Missense_Mutation_p.R188C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	982					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|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(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATAAGAAAACGCTTTTTGTG	0.403																																						uc010kak.3																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2944-2946)Cgc>Tgc		Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.							192	184	187					6																	70034893		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034893C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2944C>T	6.37:g.70034893C>T	ENSP00000359630:p.Arg982Cys		Somatic				BAI3_uc003pev.4_Missense_Mutation_p.R982C|BAI3_uc011dxx.2_Missense_Mutation_p.R188C	p.R982C	NM_001704	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			19	3220	+		all_lung(197;0.212)	982					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2944C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358423	0.95854	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.37752	1.18;1.18	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	T	0.66972	-0.5788	10	0.66056	D	0.02	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	188;982;982	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	982;188	ENSP00000359630:R982C;ENSP00000238918:R188C	ENSP00000238918:R188C	R	+	1	0	BAI3	70091614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.945000	0.70226	2.885000	0.99019	0.655000	0.94253	CGC		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	134	0	0	0	1	0	12	134					T	70034893	C	T	70034893	3	4	268	1	0	0	0	0	1	0	0	0	1300	536	19	1	3018	1	BAI3	6	70034893	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	40892963	70034893	101080174	9	4686											
INHBA	3624	broad.mit.edu	37	7	41739665	41739665	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr7:41739665A>G	ENST00000242208.4	-	2	554	c.308T>C	c.(307-309)aTa>aCa	p.I103T	AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I103T|INHBA-AS1_ENST00000422822.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	103					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|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)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTCATCCTCTATCTCCACATA	0.542										TSP Lung(11;0.080)																												uc003thq.3																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(307-309)aTa>aCa		Homo sapiens inhibin, beta A (INHBA), mRNA.							323	327	326					7																	41739665		2203	4300	6503	SO:0001583	missense	3624				G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739665A>G		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.308T>C	7.37:g.41739665A>G	ENSP00000242208:p.Ile103Thr	TSP Lung(11;0.080)	Somatic				INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.I103T|INHBA-AS1_uc003ths.2_Intron	p.I103T	NM_002192	NP_002183	WXS	Illumina GAIIx	Phase_I	P08476	INHBA_HUMAN			0	543	-			103					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.308T>C	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004573	0.54254	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64803	-0.12;-0.12	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.450164	0.25130	N	0.032919	T	0.59918	0.2229	L	0.58101	1.795	0.58432	D	0.999997	B	0.23377	0.084	B	0.20384	0.029	T	0.57100	-0.7869	10	0.38643	T	0.18	-4.4589	15.5949	0.76572	1.0:0.0:0.0:0.0	.	103	P08476	INHBA_HUMAN	T	103	ENSP00000242208:I103T;ENSP00000397197:I103T	ENSP00000242208:I103T	I	-	2	0	INHBA	41706190	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.170000	0.77587	2.083000	0.62718	0.533000	0.62120	ATA		0.542	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			6	535	0	0	0	1	0	6	535					G	41739665	A	G	41739665	3	3	268	1	0	0	0	0	1	0	0	0	7741	449	16	3	980	3	INHBA	7	41739665	Missense_Mutation	SNP	A	TCGA-EM-A3AL-01A-11D-A202-08		41739665	117398998	10	4687											
ST18	9705	broad.mit.edu	37	8	53084925	53084925	+	Nonsense_Mutation	SNP	C	C	A	rs566471582		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:53084925C>A	ENST00000276480.7	-	10	1179	c.496G>T	c.(496-498)Gag>Tag	p.E166*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	166					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)				AGAAAGCACTCGTCTGCTTCA	0.398																																						uc003xqz.2																			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.(496-498)Gag>Tag		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							117	106	110					8																	53084925		2203	4300	6503	SO:0001587	stop_gained	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084925C>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.496G>T	8.37:g.53084925C>A	ENSP00000276480:p.Glu166*		Somatic				ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Nonsense_Mutation_p.E131*|ST18_uc011lds.1_Nonsense_Mutation_p.E71*|ST18_uc003xra.2_Nonsense_Mutation_p.E166*|ST18_uc003xrb.2_Nonsense_Mutation_p.E166*	p.E166*	NM_014682	NP_055497	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			4	652	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	166					Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	c.496G>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	39	7.449910	0.98292	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.63	5.63	0.86233	.	0.763532	0.12681	N	0.447974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-10.4236	19.6835	0.95972	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000276480:E166X	E	-	1	0	ST18	53247478	0.996000	0.38824	0.064000	0.19789	0.087000	0.18053	4.485000	0.60279	2.650000	0.89964	0.655000	0.94253	GAG		0.398	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			3	87	0	0	0	1	0	3	87					A	53084925	C	A	53084925	4	1	268	1	0	0	0	0	0	1	0	0	15211	893	31	4	2715	4	ST18	8	53084925	Nonsense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		53084925	93279097	11	4688											
ENPP2	5168	broad.mit.edu	37	8	120606083	120606083	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:120606083C>G	ENST00000075322.6	-	12	1048	c.990G>C	c.(988-990)agG>agC	p.R330S	ENPP2_ENST00000259486.6_Missense_Mutation_p.R382S|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330S|ENPP2_ENST00000427067.2_Missense_Mutation_p.R326S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	330					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTCGATTTCCCTCAGAGGAT	0.423																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1144-1146)agG>agC		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							255	238	244					8																	120606083		2203	4300	6503	SO:0001583	missense	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120606083C>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.990G>C	8.37:g.120606083C>G	ENSP00000075322:p.Arg330Ser		Somatic				ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Missense_Mutation_p.R330S|ENPP2_uc003yot.2_Missense_Mutation_p.R330S	p.R382S	NM_006209	NP_006200	WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1232	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		330					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1146G>C	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980584	0.74474	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.5	3.71	0.42584	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.095715	0.64402	D	0.000001	T	0.73442	0.3587	L	0.39467	1.215	0.54753	D	0.999989	P;D;D	0.76494	0.929;0.999;0.99	P;D;P	0.65010	0.811;0.931;0.869	T	0.71623	-0.4537	10	0.48119	T	0.1	.	8.8198	0.35018	0.0:0.7137:0.0:0.2863	.	330;330;382	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	S	382;326;330;330	ENSP00000259486:R382S;ENSP00000403315:R326S;ENSP00000428291:R330S;ENSP00000075322:R330S	ENSP00000075322:R330S	R	-	3	2	ENPP2	120675264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.101000	0.50283	0.803000	0.34113	0.655000	0.94253	AGG		0.423	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			11	335	0	0	0	1	0	11	335					G	120606083	C	G	120606083	3	3	268	1	0	0	0	0	1	0	0	0	5130	622	22	4	1736	4	ENPP2	8	120606083	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	67521158	120606083	25757939	12	4689											
GAS1	2619	broad.mit.edu	37	9	89560958	89560958	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:89560958G>C	ENST00000298743.7	-	1	1146	c.737C>G	c.(736-738)gCc>gGc	p.A246G	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	246					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						GCCCAGCTCGGCGCCGAAGCA	0.701																																						uc004aox.4																			0				kidney(1)|lung(2)|skin(1)	4						c.(736-738)gCc>gGc		Homo sapiens growth arrest-specific 1 (GAS1), mRNA.							14	16	15					9																	89560958		2183	4286	6469	SO:0001583	missense	2619				cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane		g.chr9:89560958G>C		CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"Growth arrest-specific gene-1"	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.737C>G	9.37:g.89560958G>C	ENSP00000298743:p.Ala246Gly		Somatic				BC036850_uc004aoy.3_5'Flank	p.A246G	NM_002048	NP_002039	WXS	Illumina GAIIx	Phase_I	P54826	GAS1_HUMAN			0	1147	-			246					B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	c.737C>G	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	G	6.152	0.396197	0.11638	.	.	ENSG00000180447	ENST00000298743	D	0.83163	-1.69	4.49	4.49	0.54785	.	0.353063	0.21228	U	0.078027	T	0.65831	0.2729	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.49082	-0.8976	10	0.18276	T	0.48	-5.9837	7.7042	0.28640	0.0886:0.1663:0.7451:0.0	.	246	P54826	GAS1_HUMAN	G	246	ENSP00000298743:A246G	ENSP00000298743:A246G	A	-	2	0	GAS1	88750778	0.722000	0.28017	0.990000	0.47175	0.280000	0.26924	1.812000	0.38952	2.046000	0.60703	0.549000	0.68633	GCC		0.701	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052928.1	NM_002048		4	28	0	0	0	1	0	4	28					C	89560958	G	C	89560958	3	2	268	1	0	0	0	0	1	0	0	0	6244	1203	42	4	304	4	GAS1	9	89560958	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		89560958	51652473	13	4690											
RPL12	6136	broad.mit.edu	37	9	130213590	130213590	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:130213590G>A	ENST00000361436.5	-	1	94	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.P3S|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000323301.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000373324.4_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	3					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)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCGAACTTCGGCGGCATGGTG	0.657																																						uc004bqy.2																			0		p.P3P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(7-9)Ccg>Tcg		Homo sapiens ribosomal protein L12 (RPL12), mRNA.							30	33	32					9																	130213590		2199	4296	6495	SO:0001583	missense	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130213590G>A		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"L ribosomal proteins"	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.7C>T	9.37:g.130213590G>A	ENSP00000354739:p.Pro3Ser		Somatic				RPL12_uc004bqz.2_Missense_Mutation_p.P3S|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank	p.P3S	NM_000976	NP_000967	WXS	Illumina GAIIx	Phase_I	P30050	RL12_HUMAN			0	122	-			3					Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	c.7C>T	CCDS6872.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481989	0.84747	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	.	.	.	5.58	4.67	0.58626	Ribosomal protein L11, N-terminal (2);	0.000000	0.85682	U	0.000000	T	0.76955	0.4060	M	0.92077	3.27	0.58432	D	0.999999	B;B	0.22003	0.063;0.034	B;B	0.33454	0.164;0.057	T	0.77365	-0.2615	9	0.56958	D	0.05	0.0669	13.4653	0.61249	0.0:0.0:0.842:0.158	.	3;3	P30050-2;P30050	.;RL12_HUMAN	S	3	.	ENSP00000354739:P3S	P	-	1	0	RPL12	129253411	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.469000	0.97679	1.333000	0.45449	0.561000	0.74099	CCG		0.657	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			6	67	0	0	0	1	0	6	67					A	130213590	G	A	130213590	3	1	268	1	0	0	0	0	1	0	0	0	13558	1203	42	2	518	2	RPL12	9	130213590	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08	40652632	130213590	10999841	14	4691											
PAWR	5074	broad.mit.edu	37	12	80083954	80083954	+	Frame_Shift_Del	DEL	T	T	-	rs200495794		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr12:80083954delT	ENST00000328827.4	-	2	443	c.71delA	c.(70-72)aagfs	p.K24fs	RP11-530C5.1_ENST00000551995.1_lincRNA|PAWR_ENST00000547571.1_5'Flank	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	24					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCGTTTCGCCTTCCACTCCTC	0.731																																						uc001syx.3																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(70-72)aagfs		Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.							3	4	4					12																	80083954		2049	4081	6130	SO:0001589	frameshift_variant	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80083954delT	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"prostate apoptosis response-4"	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.71delA	12.37:g.80083954delT	ENSP00000328088:p.Lys24fs		Somatic					p.K24fs	NM_002583	NP_002574	WXS	Illumina GAIIx	Phase_I	Q96IZ0	PAWR_HUMAN			1	357	-			24					O75796|Q6FHY9|Q8N700	Frame_Shift_Del	DEL	ENST00000328827.4	37	c.71delA	CCDS31863.1																																																																																				0.731	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		2	4						2	4	---	---	---	---	-	80083954	T	-	80083954	7	5	268	1	0	1	0	1	0	0	0	0	11477	1609	56	0	975	0	PAWR	12	80083954	Frame_Shift_Del	DEL	T	TCGA-EM-A3AL-01A-11D-A202-08		80083954	53767941	15	4692											
DCT	1638	broad.mit.edu	37	13	95121126	95121126	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr13:95121126C>T	ENST00000377028.5	-	2	882	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.V157M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	157					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTGGTGATCACGTAGTCGGGG	0.517																																						uc010afh.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(469-471)Gtg>Atg		Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.							219	215	217					13																	95121126		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121126C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.469G>A	13.37:g.95121126C>T	ENSP00000366227:p.Val157Met		Somatic				DCT_uc001vlv.4_Missense_Mutation_p.V157M	p.V157M	NM_001129889	NP_001123361	WXS	Illumina GAIIx	Phase_I	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	896	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	157					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.469G>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477301	0.63849	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.84873	-1.91;-1.91	5.69	4.85	0.62838	Uncharacterised domain, di-copper centre (2);	0.114822	0.64402	D	0.000010	D	0.91168	0.7218	M	0.82433	2.59	0.58432	D	0.999998	D;D	0.76494	0.974;0.999	B;P	0.59761	0.36;0.863	D	0.91661	0.5342	9	.	.	.	-16.0353	14.3176	0.66463	0.0:0.9292:0.0:0.0708	.	157;157	Q09GT4;P40126	.;TYRP2_HUMAN	M	157	ENSP00000366227:V157M;ENSP00000392762:V157M	.	V	-	1	0	DCT	93919127	0.993000	0.37304	0.998000	0.56505	0.385000	0.30292	3.057000	0.49931	1.403000	0.46800	0.655000	0.94253	GTG		0.517	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			96	180	0	0	0	1	0	96	180					T	95121126	C	T	95121126	3	4	268	1	0	0	0	0	1	0	0	0	4304	536	19	1	1225	1	DCT	13	95121126	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		95121126	20048752	16	4693											
ADSSL1	122622	broad.mit.edu	37	14	105212622	105212622	+	Silent	SNP	T	T	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr14:105212622T>G	ENST00000555674.1	+	1	230	c.39T>G	c.(37-39)ccT>ccG	p.P13P	ADSSL1_ENST00000332972.5_Silent_p.P450P|ADSSL1_ENST00000556623.1_Silent_p.P13P|ADSSL1_ENST00000330877.2_Silent_p.P407P|ADSSL1_ENST00000554657.1_3'UTR					adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AAACGCTGCCTGGGTGGAAAG	0.587																																						uc001ype.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1348-1350)ccT>ccG		Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 1, mRNA.	L-Aspartic Acid(DB00128)						72	68	69					14																	105212622		2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding	g.chr14:105212622T>G	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000555674.1:c.39T>G	14.37:g.105212622T>G			Somatic				ADSSL1_uc001ypd.3_Silent_p.P407P|ADSSL1_uc001ypf.3_Non-coding_Transcript	p.P450P	NM_199165	NP_954634	WXS	Illumina GAIIx	Phase_I	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	11	1352	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	407						Silent	SNP	ENST00000555674.1	37	c.1350T>G																																																																																					0.587	ADSSL1-010	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000410540.1			7	79	0	0	0	1	0	7	79					G	105212622	T	G	105212622	2	3	268	1	0	0	0	0	0	0	0	1	348	1567	55	5		5	ADSSL1	14	105212622	Silent	SNP	T	TCGA-EM-A3AL-01A-11D-A202-08		105212622	2136918	17	4694											
SLC12A6	9990	broad.mit.edu	37	15	34537938	34537938	+	Silent	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr15:34537938G>A	ENST00000354181.3	-	14	2272	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	SLC12A6_ENST00000397707.2_Silent_p.L579L|SLC12A6_ENST00000558589.1_Silent_p.L585L|SLC12A6_ENST00000558667.1_Silent_p.L594L|SLC12A6_ENST00000451844.2_Silent_p.L406L|SLC12A6_ENST00000397702.2_Silent_p.L535L|SLC12A6_ENST00000458406.2_Silent_p.L535L|SLC12A6_ENST00000560164.1_Silent_p.L406L|SLC12A6_ENST00000560611.1_Silent_p.L594L|SLC12A6_ENST00000290209.5_Silent_p.L543L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	594					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTTGTAGCAGCCTCGGTGCA	0.473																																						uc001zhw.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(1780-1782)Ctg>Ttg		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	Potassium Chloride(DB00761)						84	75	78					15																	34537938		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34537938G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1780C>T	15.37:g.34537938G>A			Somatic				SLC12A6_uc001zhv.3_Silent_p.L543L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L579L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L535L|SLC12A6_uc001zib.3_Silent_p.L585L|SLC12A6_uc001zic.3_Silent_p.L594L|SLC12A6_uc010bau.3_Silent_p.L594L|SLC12A6_uc001zid.3_Silent_p.L535L|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.L406L	p.L594L	NM_133647	NP_598408	WXS	Illumina GAIIx	Phase_I	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	12	1944	-		all_lung(180;2.78e-08)	594					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.1780C>T	CCDS58352.1																																																																																				0.473	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		5	89	0	0	0	1	0	5	89					A	34537938	G	A	34537938	2	1	268	1	0	0	0	0	0	0	0	1	14387	962	34	2		2	SLC12A6	15	34537938	Silent	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		34537938	67993454	18	4695											
NKD1	85407	broad.mit.edu	37	16	50666208	50666208	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr16:50666208C>T	ENST00000268459.3	+	9	936	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	238					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGGTGACAGCCGCCTGGAGCA	0.562																																						uc002egg.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(712-714)Cgc>Tgc		Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.							69	58	61					16																	50666208		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666208C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.712C>T	16.37:g.50666208C>T	ENSP00000268459:p.Arg238Cys		Somatic					p.R238C	NM_033119	NP_149110	WXS	Illumina GAIIx	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	8	936	+		all_cancers(37;0.229)	238					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.712C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827943	0.71143	.	.	ENSG00000140807	ENST00000268459	T	0.64260	-0.09	5.14	4.17	0.49024	.	0.434585	0.26366	N	0.024796	T	0.37679	0.1012	N	0.03608	-0.345	0.35483	D	0.798335	D	0.57257	0.979	B	0.43123	0.409	T	0.53704	-0.8401	10	0.56958	D	0.05	-7.736	8.5865	0.33662	0.2219:0.6398:0.1383:0.0	.	238	Q969G9	NKD1_HUMAN	C	238	ENSP00000268459:R238C	ENSP00000268459:R238C	R	+	1	0	NKD1	49223709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.563000	0.36364	1.145000	0.42336	0.563000	0.77884	CGC		0.562	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			27	37	0	0	0	1	0	27	37					T	50666208	C	T	50666208	3	4	268	1	0	0	0	0	1	0	0	0	10441	652	23	1	746	1	NKD1	16	50666208	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		50666208	39688545	19	4696											
PLD2	5338	broad.mit.edu	37	17	4719165	4719165	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:4719165G>A	ENST00000263088.6	+	14	1522	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PLD2_ENST00000572940.1_Missense_Mutation_p.R464H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	464	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				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)	GCCTATGGCCGCTGGGATGAC	0.597											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fzc.3																			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.(1390-1392)cGc>cAc		Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	Choline(DB00122)						186	149	162					17																	4719165		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.chr17:4719165G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1391G>A	17.37:g.4719165G>A	ENSP00000263088:p.Arg464His		Somatic	OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_uc010vsj.2_Missense_Mutation_p.R321H|PLD2_uc002fzd.3_Missense_Mutation_p.R464H	p.R464H	NM_002663	NP_002654	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			13	1517	+			464			Catalytic.|PLD phosphodiesterase 1.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.1391G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597513	0.96602	.	.	ENSG00000129219	ENST00000263088	T	0.31510	1.49	5.58	5.58	0.84498	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.981;0.999	D	0.83892	0.0285	10	0.87932	D	0	-11.2461	17.039	0.86483	0.0:0.0:1.0:0.0	.	321;464;464	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	464	ENSP00000263088:R464H	ENSP00000263088:R464H	R	+	2	0	PLD2	4666131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.344000	0.97050	2.619000	0.88677	0.655000	0.94253	CGC		0.597	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		4	140	0	0	0	1	0	4	140					A	4719165	G	A	4719165	3	1	268	1	0	0	0	0	1	0	0	0	12046	1087	38	1	1441	1	PLD2	17	4719165	Missense_Mutation	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		4719165	76476045	20	4697											
RHBDL3	162494	broad.mit.edu	37	17	30615975	30615975	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:30615975C>T	ENST00000269051.4	+	4	473	c.459C>T	c.(457-459)taC>taT	p.Y153Y	RHBDL3_ENST00000538145.1_Silent_p.Y145Y|RHBDL3_ENST00000536287.1_Silent_p.Y55Y	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	153						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)				GCAAGTGGTACTATGACAGCT	0.622																																						uc010csx.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(457-459)taC>taT		Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.							70	67	68					17																	30615975		2203	4300	6503	SO:0001819	synonymous_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30615975C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.459C>T	17.37:g.30615975C>T			Somatic				RHBDL3_uc002hhe.1_Silent_p.Y153Y|RHBDL3_uc010csw.1_Silent_p.Y145Y|RHBDL3_uc010csy.1_Silent_p.Y55Y|RHBDL3_uc002hhf.1_Silent_p.Y55Y	p.Y153Y			WXS	Illumina GAIIx	Phase_I	P58872	RHBL3_HUMAN			3	473	+		Breast(31;0.116)|Ovarian(249;0.182)	153					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.459C>T	CCDS32613.1																																																																																				0.622	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		34	52	0	0	0	1	0	34	52					T	30615975	C	T	30615975	2	4	268	1	0	0	0	0	0	0	0	1	13323	576	20	2		2	RHBDL3	17	30615975	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	25896810	30615975	50579235	21	4698											
MRPS23	51649	broad.mit.edu	37	17	55918341	55918341	+	Silent	SNP	C	C	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:55918341C>G	ENST00000313608.8	-	4	411	c.366G>C	c.(364-366)ggG>ggC	p.G122G	MRPS23_ENST00000578444.1_Silent_p.G122G	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	122					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ATAAAGCCTTCCCTGTTTCCA	0.398																																						uc002ivc.3																			0		p.G122R(1)		endometrium(2)|large_intestine(1)|lung(2)	5						c.(364-366)ggG>ggC		Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA.							242	215	225					17																	55918341		2203	4300	6503	SO:0001819	synonymous_variant	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55918341C>G	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"Mitochondrial ribosomal proteins / small subunits"	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.366G>C	17.37:g.55918341C>G			Somatic					p.G122G	NM_016070	NP_057154	WXS	Illumina GAIIx	Phase_I	Q9Y3D9	RT23_HUMAN			3	428	-	Breast(9;8.75e-08)		122					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Silent	SNP	ENST00000313608.8	37	c.366G>C	CCDS11598.1																																																																																				0.398	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		3	144	0	0	0	1	0	3	144					G	55918341	C	G	55918341	2	3	268	1	0	0	0	0	0	0	0	1	9834	842	30	4		4	MRPS23	17	55918341	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	25302366	55918341	25276869	22	4699											
DTNA	1837	broad.mit.edu	37	18	32374191	32374191	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr18:32374191C>T	ENST00000399113.3	+	3	339	c.339C>T	c.(337-339)aaC>aaT	p.N113N	DTNA_ENST00000283365.9_Silent_p.N113N|DTNA_ENST00000598142.1_Silent_p.N113N|DTNA_ENST00000595022.1_Silent_p.N113N|DTNA_ENST00000315456.6_Silent_p.N113N|DTNA_ENST00000596745.1_Silent_p.N113N|DTNA_ENST00000444659.1_Silent_p.N113N|DTNA_ENST00000399121.5_Silent_p.N113N|DTNA_ENST00000348997.5_Silent_p.N113N|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269191.6_Silent_p.N113N|DTNA_ENST00000598334.1_Silent_p.N113N|DTNA_ENST00000269190.7_Silent_p.N113N|DTNA_ENST00000597599.1_Silent_p.N113N|DTNA_ENST00000554864.3_Silent_p.N113N|DTNA_ENST00000598774.1_Silent_p.N113N			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	113	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCTCCTTAACTTCCTGCTTG	0.473																																						uc010dmn.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(337-339)aaC>aaT		Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.							217	170	186					18																	32374191		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32374191C>T	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	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.339C>T	18.37:g.32374191C>T			Somatic				DTNA_uc002kxu.2_Silent_p.N113N|DTNA_uc010xbx.2_Silent_p.N113N|DTNA_uc002kxv.4_Silent_p.N113N|DTNA_uc002kxw.2_Silent_p.N113N|DTNA_uc002kxx.2_Silent_p.N113N|DTNA_uc002kxz.2_Silent_p.N113N|DTNA_uc002kxy.2_Silent_p.N113N|DTNA_uc010dmj.3_Silent_p.N113N|DTNA_uc002kyb.4_Silent_p.N113N|DTNA_uc010dml.3_Silent_p.N113N|DTNA_uc010dmm.3_Silent_p.N113N	p.N113N	NM_001390	NP_001381	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			2	340	+			113			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.339C>T	CCDS59311.1																																																																																				0.473	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		13	95	0	0	0	1	0	13	95					T	32374191	C	T	32374191	2	4	268	1	0	0	0	0	0	0	0	1	4788	564	20	2		2	DTNA	18	32374191	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		32374191	45703057	23	4700											
CDS2	8760	broad.mit.edu	37	20	5169753	5169753	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr20:5169753C>T	ENST00000460006.1	+	11	1329	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V	CDS2_ENST00000535100.1_Missense_Mutation_p.A111V|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.A221V	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	341					CDP-diacylglycerol biosynthetic process (GO:0016024)|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)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CACAGCATCGCTCTCTCCACC	0.458																																						uc002wls.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(1021-1023)gCt>gTt		Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.							180	166	171					20																	5169753		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5169753C>T	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1022C>T	20.37:g.5169753C>T	ENSP00000419879:p.Ala341Val		Somatic				CDS2_uc002wlw.3_Missense_Mutation_p.A221V|CDS2_uc002wlv.3_Missense_Mutation_p.A243V|CDS2_uc010zqv.2_Missense_Mutation_p.A111V	p.A341V	NM_003818	NP_003809	WXS	Illumina GAIIx	Phase_I	O95674	CDS2_HUMAN			10	1354	+			341					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.1022C>T	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613688	0.28712	.	.	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T;T	0.40476	1.03;1.03;1.03	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	N	0.17838	0.53	0.80722	D	1	B;B;B	0.23128	0.002;0.038;0.08	B;B;B	0.28305	0.004;0.024;0.088	T	0.09465	-1.0673	10	0.02654	T	1	-1.4197	18.5497	0.91058	0.0:1.0:0.0:0.0	.	111;221;341	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	V	341;221;111	ENSP00000419879:A341V;ENSP00000368352:A221V;ENSP00000440555:A111V	ENSP00000368352:A221V	A	+	2	0	CDS2	5117753	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	6.024000	0.70857	2.802000	0.96397	0.542000	0.68232	GCT		0.458	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			46	75	0	0	0	1	0	46	75					T	5169753	C	T	5169753	3	4	268	1	0	0	0	0	1	0	0	0	3178	797	28	2	1064	2	CDS2	20	5169753	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		5169753	57855767	24	4701											
DSCAM	1826	broad.mit.edu	37	21	41648055	41648055	+	Silent	SNP	G	G	A	rs372175757		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr21:41648055G>A	ENST00000400454.1	-	11	2802	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	775	Ig-like C2-type 8.				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)				ACTTGCTGACGTCTGCGCCCA	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.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.(2323-2325)gaC>gaT		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.		G		0,4152		0,0,2076	95	101	99		2325	4.7	1.0	21		99	1,8507		0,1,4253	no	coding-synonymous	DSCAM	NM_001389.3		0,1,6329	AA,AG,GG		0.0118,0.0,0.0079		775/2013	41648055	1,12659	2076	4254	6330	SO:0001819	synonymous_variant	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.chr21:41648055G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2325C>T	21.37:g.41648055G>A			Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.D775D	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			10	2777	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	775			Ig-like C2-type 8.		O60468	Silent	SNP	ENST00000400454.1	37	c.2325C>T	CCDS42929.1																																																																																				0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	92	0	0	0	1	0	5	92					A	41648055	G	A	41648055	2	1	268	1	0	0	0	0	0	0	0	1	4768	1136	40	1		1	DSCAM	21	41648055	Silent	SNP	G	TCGA-EM-A3AL-01A-11D-A202-08		41648055	6481840	25	4702											
CSF2RB	1439	broad.mit.edu	37	22	37325500	37325500	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr22:37325500C>A	ENST00000403662.3	+	5	670	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	CSF2RB_ENST00000536485.1_Missense_Mutation_p.L91M|CSF2RB_ENST00000262825.5_Missense_Mutation_p.L150M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L150M			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	150	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCACTTCCTGCTGACCTGGAG	0.627																																						uc003aqc.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(448-450)Ctg>Atg		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						98	97	98					22																	37325500		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325500C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.448C>A	22.37:g.37325500C>A	ENSP00000384053:p.Leu150Met		Somatic				CSF2RB_uc003aqa.4_Missense_Mutation_p.L150M	p.L150M	NM_000395	NP_000386	WXS	Illumina GAIIx	Phase_I	P32927	IL3RB_HUMAN			3	620	+			150			Fibronectin type-III 1.		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.448C>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529916	0.64860	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86973	0.6062	M	0.81802	2.56	0.44619	D	0.99759	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	D	0.87914	0.2699	9	0.87932	D	0	-7.6773	10.2304	0.43252	0.0:0.9087:0.0:0.0913	.	150;150	P32927-2;P32927	.;IL3RB_HUMAN	M	150;150;150;150;70;91	ENSP00000384053:L150M;ENSP00000262825:L150M;ENSP00000385271:L150M;ENSP00000393585:L70M;ENSP00000440003:L91M	ENSP00000262825:L150M	L	+	1	2	CSF2RB	35655446	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.775000	0.47702	2.578000	0.87016	0.655000	0.94253	CTG		0.627	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		4	169	0	0	0	1	0	4	169					A	37325500	C	A	37325500	3	1	268	1	0	0	0	0	1	0	0	0	3935	796	28	4	462	4	CSF2RB	22	37325500	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		37325500	13979066	26	4703											
CSF2RA	1438	broad.mit.edu	37	X	1407736	1407736	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:1407736C>T	ENST00000381524.3	+	6	614	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	143					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)			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)	AGGGGTCCGACGGCCCCCCGT	0.473													c|||	3	0.000599042	8e-04	0	5008	,	,		15400	0		0.001	False		,,,				2504	0.001				Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010ncv.2																			0				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.(427-429)aCg>aTg		Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 8, mRNA.	Sargramostim(DB00020)	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	117	128	124		428,428,428,29,428,428,428,428,428	1.7	0.0	X		124	2,8590		0,2,4294	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	81,81,81,81,81,81,81,81,81	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	143/401,143/435,143/411,10/268,143/401,143/401,143/378,143/334,143/234	1407736	2,12996	2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407736C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.428C>T	X.37:g.1407736C>T	ENSP00000370935:p.Thr143Met		Somatic				CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T143M|CSF2RA_uc010nct.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpq.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpn.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T143M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T10M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T143M	p.T143M	NM_001161530	NP_001155002	WXS	Illumina GAIIx	Phase_I	P15509	CSF2R_HUMAN			3	454	+		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)	143					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.428C>T	CCDS35191.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	.	12.38	1.919535	0.33908	0.0	2.33E-4	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	T;T;T;D;T;T;T;T;T;T;T;T	0.94931	0.51;0.51;0.51;-3.56;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	1.74	1.74	0.24563	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	1.230320	0.06540	U	0.742960	D	0.95421	0.8513	.	.	.	0.09310	N	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.927;0.987;0.998;0.999	P;P;B;P;P;P	0.60012	0.854;0.867;0.328;0.554;0.731;0.761	D	0.86157	0.1591	9	0.48119	T	0.1	.	6.6818	0.23125	0.0:1.0:0.0:0.0	.	143;143;143;143;143;143	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	M	143;143;143;143;10;143;143;143;143;143;143;143;143	ENSP00000370940:T143M;ENSP00000416437:T143M;ENSP00000354836:T143M;ENSP00000440491:T10M;ENSP00000370935:T143M;ENSP00000410667:T143M;ENSP00000397452:T143M;ENSP00000370920:T143M;ENSP00000348058:T143M;ENSP00000347606:T143M;ENSP00000394227:T143M;ENSP00000370911:T143M	ENSP00000347606:T143M	T	+	2	0	CSF2RA	1367736	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.417000	0.21214	0.918000	0.36919	0.280000	0.19369	ACG		0.473	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			11	142	0	0	0	1	0	11	142					T	1407736	C	T	1407736	3	4	268	1	0	0	0	0	1	0	0	0	3934	536	19	1	442	1	CSF2RA	23	1407736	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08		1407736	153862824	27	4704											
PRPS2	5634	broad.mit.edu	37	X	12837725	12837725	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:12837725C>T	ENST00000380668.5	+	5	758	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PRPS2_ENST00000398491.2_Silent_p.D213D	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	210					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGGTGGGCGACGTGAAGGACC	0.552																																						uc004cva.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(637-639)gaC>gaT		Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.							253	219	230					X																	12837725		2203	4300	6503	SO:0001819	synonymous_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837725C>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.630C>T	X.37:g.12837725C>T			Somatic				PRPS2_uc004cvb.3_Silent_p.D210D|PRPS2_uc010nec.3_Intron	p.D213D	NM_001039091	NP_001034180	WXS	Illumina GAIIx	Phase_I	P11908	PRPS2_HUMAN			4	782	+			210			Binding of phosphoribosylpyrophosphate (Potential).		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	ENST00000380668.5	37	c.639C>T	CCDS14150.1																																																																																				0.552	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		97	230	0	0	0	1	0	97	230					T	12837725	C	T	12837725	2	4	268	1	0	0	0	0	0	0	0	1	12580	535	19	1		1	PRPS2	23	12837725	Silent	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	11429989	12837725	142432835	28	4705											
CNGA2	1260	broad.mit.edu	37	X	150911807	150911807	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:150911807C>T	ENST00000329903.4	+	6	865	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	278					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)					CATCAGCAACCTTGTCCTCTA	0.512																																						uc004fey.1																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(832-834)Ctt>Ttt		Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.							193	154	167					X																	150911807		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:150911807C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.832C>T	X.37:g.150911807C>T	ENSP00000328478:p.Leu278Phe		Somatic					p.L278F	NM_005140	NP_005131	WXS	Illumina GAIIx	Phase_I	Q16280	CNGA2_HUMAN			6	1056	+	Acute lymphoblastic leukemia(192;6.56e-05)		278					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.832C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678142	0.47886	.	.	ENSG00000183862	ENST00000329903	D	0.99462	-5.94	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99591	0.9852	M	0.91768	3.24	0.45704	D	0.998613	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	278	Q16280	CNGA2_HUMAN	F	278	ENSP00000328478:L278F	ENSP00000328478:L278F	L	+	1	0	CNGA2	150662463	1.000000	0.71417	0.986000	0.45419	0.854000	0.48673	0.741000	0.26202	2.236000	0.73375	0.600000	0.82982	CTT		0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	222	0	0	0	1	0	4	222					T	150911807	C	T	150911807	3	4	268	1	0	0	0	0	1	0	0	0	3597	681	24	2	854	2	CNGA2	23	150911807	Missense_Mutation	SNP	C	TCGA-EM-A3AL-01A-11D-A202-08	138074082	150911807	4358753	29	4706											
PRDM2	7799	broad.mit.edu	37	1	14059320	14059320	+	Silent	SNP	A	A	G			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr1:14059320A>G	ENST00000235372.7	+	4	1030	c.174A>G	c.(172-174)ccA>ccG	p.P58P	PRDM2_ENST00000311066.5_Silent_p.P58P|PRDM2_ENST00000376048.5_Silent_p.P58P	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	58	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		AATTTGGGCCATTTGTTGGTG	0.289																																						uc001avi.3																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(172-174)ccA>ccG		Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.							57	61	60					1																	14059320		2203	4295	6498	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14059320A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	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"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.174A>G	1.37:g.14059320A>G			Somatic				PRDM2_uc001avg.3_Silent_p.P58P|PRDM2_uc001avh.3_Silent_p.P58P	p.P58P	NM_012231	NP_036363	WXS	Illumina GAIIx	Phase_I	Q13029	PRDM2_HUMAN	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)	3	1030	+	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)	58			SET.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.174A>G	CCDS150.1																																																																																				0.289	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		3	59	0	0	0	1	0	3	59					G	14059320	A	G	14059320	2	3	269	1	0	0	0	0	0	0	0	1	12458	204	8	3		3	PRDM2	1	14059320	Silent	SNP	A	TCGA-EM-A3AN-01A-11D-A202-08		14059320	235191301	1	4707											
POLR3C	10623	broad.mit.edu	37	1	145608142	145608142	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr1:145608142C>A	ENST00000334163.3	-	4	715	c.555G>T	c.(553-555)aaG>aaT	p.K185N	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.K185N|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	185					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.K185N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTACATGTCCTTTTCATTAA	0.468																																						uc001eog.3																			1	Substitution - Missense(1)	p.K185N(1)	lung(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(592-594)aaG>aaT		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.							167	162	163					1																	145608142		2203	4300	6503	SO:0001583	missense	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608142C>A	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.555G>T	1.37:g.145608142C>A	ENSP00000334564:p.Lys185Asn		Somatic				RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.K185N|POLR3C_uc009wix.3_Missense_Mutation_p.K185N	p.K198N	NM_006468	NP_006459	WXS	Illumina GAIIx	Phase_I	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		3	637	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		185					O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	c.594G>T	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220886	0.39201	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.50548	0.74;0.74	5.62	3.69	0.42338	RNA polymerase III Rpc82, C -terminal (1);	0.152062	0.64402	D	0.000018	T	0.19685	0.0473	L	0.48642	1.525	0.40429	D	0.979927	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.05386	-1.0888	10	0.21540	T	0.41	-23.0196	9.2467	0.37529	0.0:0.8142:0.0:0.1858	.	185;185;185	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	N	185	ENSP00000334564:K185N;ENSP00000358300:K185N	ENSP00000334564:K185N	K	-	3	2	POLR3C	144319499	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	2.584000	0.46102	0.669000	0.31146	-0.140000	0.14226	AAG		0.468	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		4	135	0	0	0	1	0	4	135					A	145608142	C	A	145608142	3	1	269	1	0	0	0	0	1	0	0	0	12230	680	24	4	1097	4	POLR3C	1	145608142	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08	131548822	145608142	103642479	2	4708											
ALMS1	7840	broad.mit.edu	37	2	73828375	73828375	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:73828375A>T	ENST00000264448.6	+	19	12034	c.11923A>T	c.(11923-11925)Aac>Tac	p.N3975Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.N3933Y|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3975					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						AAAGAAGGAAAACGTGCCTAA	0.468																																						uc002sje.1																			0		p.N3975N(1)		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.(11923-11925)Aac>Tac		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							112	123	119					2																	73828375		2188	4296	6484	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828375A>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11923A>T	2.37:g.73828375A>T	ENSP00000264448:p.Asn3975Tyr		Somatic				ALMS1_uc002sjf.1_Missense_Mutation_p.N3933Y|ALMS1_uc002sjh.1_Missense_Mutation_p.N3363Y	p.N3975Y	NM_015120	NP_055935	WXS	Illumina GAIIx	Phase_I	Q8TCU4	ALMS1_HUMAN			18	12034	+			3975					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11923A>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021739	0.54576	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08546	3.08;3.08	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000005	T	0.22044	0.0531	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.00318	-1.1821	10	0.87932	D	0	.	13.0184	0.58771	1.0:0.0:0.0:0.0	.	3933;3975	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Y	3933;3975	ENSP00000386627:N3933Y;ENSP00000264448:N3975Y	ENSP00000264448:N3975Y	N	+	1	0	ALMS1	73681883	1.000000	0.71417	0.993000	0.49108	0.309000	0.27889	4.763000	0.62257	2.182000	0.69389	0.459000	0.35465	AAC		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	203	0	0	0	1	0	6	203					T	73828375	A	T	73828375	3	4	269	1	0	0	0	0	1	0	0	0	535	14	1	5	11997	5	ALMS1	2	73828375	Missense_Mutation	SNP	A	TCGA-EM-A3AN-01A-11D-A202-08		73828375	169370998	3	4709											
ALS2CR12	130540	broad.mit.edu	37	2	202216069	202216069	+	Missense_Mutation	SNP	C	C	T	rs142397497		TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:202216069C>T	ENST00000286190.5	-	1	105	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	20					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.R20Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATTAGCTTCCGTGGTCCCAA	0.557													C|||	1	0.000199681	0	0	5008	,	,		17196	0		0	False		,,,				2504	0.001					uc010ftg.3																			1	Substitution - Missense(1)	p.R20Q(2)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(58-60)cGg>cAg		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	104	97	100		59,59	2.3	0.9	2	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/423,20/446	202216069	1,13005	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216069C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.59G>A	2.37:g.202216069C>T	ENSP00000286190:p.Arg20Gln		Somatic				ALS2CR12_uc002uya.4_Missense_Mutation_p.R20Q|ALS2CR12_uc010fth.3_Non-coding_Transcript	p.R20Q	NM_139163	NP_631902	WXS	Illumina GAIIx	Phase_I	Q96Q35	AL2SB_HUMAN			1	503	-			20					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.59G>A	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597707	0.46318	0.0	1.16E-4	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.58210	0.91;0.91;0.91;0.91;0.35	5.06	2.28	0.28536	.	0.317119	0.23103	N	0.051893	T	0.33818	0.0876	L	0.33485	1.01	0.21020	N	0.999809	B;B	0.30033	0.266;0.266	B;B	0.22386	0.039;0.039	T	0.17379	-1.0371	10	0.46703	T	0.11	-5.5698	5.0633	0.14568	0.0:0.6437:0.1719:0.1844	.	20;20	Q96Q35;G5E9S3	AL2SB_HUMAN;.	Q	20	ENSP00000286190:R20Q;ENSP00000385098:R20Q;ENSP00000376086:R20Q;ENSP00000412073:R20Q;ENSP00000407585:R20Q	ENSP00000286190:R20Q	R	-	2	0	ALS2CR12	201924314	0.021000	0.18746	0.897000	0.35233	0.905000	0.53344	0.413000	0.21148	0.808000	0.34231	-0.137000	0.14449	CGG		0.557	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		25	49	0	0	0	1	0	25	49					T	202216069	C	T	202216069	3	4	269	1	0	0	0	0	1	0	0	0	553	652	23	1	1334	1	ALS2CR12	2	202216069	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08	128387694	202216069	40983304	4	4710											
IP6K2	51447	broad.mit.edu	37	3	48732456	48732456	+	Intron	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr3:48732456C>A	ENST00000328631.5	-	2	426				IP6K2_ENST00000446860.1_Missense_Mutation_p.R148M|IP6K2_ENST00000417896.1_Missense_Mutation_p.R90M|IP6K2_ENST00000453202.1_Missense_Mutation_p.R90M|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.R90M|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000431721.2_Missense_Mutation_p.R145M|IP6K2_ENST00000443964.1_Missense_Mutation_p.R149M	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTGCCAGGGCCTTCCATGGCC	0.607																																						uc011bbv.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(442-444)aGg>aTg		Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 10, mRNA.																																				SO:0001627	intron_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732456C>A	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+66G>T	3.37:g.48732456C>A			Somatic				IP6K2_uc003cuq.3_Intron|IP6K2_uc003cup.3_Intron|IP6K2_uc011bbs.2_Intron|IP6K2_uc003cut.3_Intron|IP6K2_uc003cus.3_Intron|IP6K2_uc003cur.3_Intron|IP6K2_uc011bbu.2_Missense_Mutation_p.R144M|IP6K2_uc011bbr.2_Intron|IP6K2_uc011bbt.2_Missense_Mutation_p.R145M|IP6K2_uc011bbq.2_Intron	p.R148M	NM_001190317	NP_001177246	WXS	Illumina GAIIx	Phase_I	Q9UHH9	IP6K2_HUMAN			2	866	-			177					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.443G>T	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704800	0.48412	.	.	ENSG00000068745	ENST00000431721;ENST00000449610;ENST00000446860;ENST00000417896;ENST00000443964;ENST00000453202	T;T;T;T;T;T	0.51325	0.71;0.77;0.71;0.77;0.71;0.77	4.2	0.154	0.14901	.	.	.	.	.	T	0.22166	0.0534	N	0.08118	0	0.09310	N	0.999999	P;P;P	0.39157	0.662;0.662;0.662	B;B;B	0.37304	0.246;0.246;0.181	T	0.09818	-1.0657	9	0.35671	T	0.21	.	3.2375	0.06770	0.1645:0.4193:0.3203:0.0959	.	148;144;145	B4E3G6;A8K636;A8K3B1	.;.;.	M	145;90;148;90;149;90	ENSP00000414139:R145M;ENSP00000393077:R90M;ENSP00000399052:R148M;ENSP00000388116:R90M;ENSP00000410950:R149M;ENSP00000387394:R90M	ENSP00000388116:R90M	R	-	2	0	IP6K2	48707460	0.077000	0.21312	0.000000	0.03702	0.696000	0.40369	0.161000	0.16481	-0.085000	0.12573	0.195000	0.17529	AGG		0.607	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		13	24	0	0	0	1	0	13	24					A	48732456	C	A	48732456	1	1	269	0	1	0	0	0	0	0	0	0	7789	681	24	4		4	IP6K2	3	48732456	Intron	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		48732456	149289974	5	4711											
UGT2A2	10941	broad.mit.edu	37	4	70505028	70505028	+	Intron	SNP	G	G	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:70505028G>T	ENST00000503640.1	-	1	771				UGT2A1_ENST00000286604.4_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.L111I|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L312I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATATTGTGAGAGGAGTTGGT	0.353																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(934-936)Ctc>Atc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							110	107	108					4																	70505028		1842	4090	5932	SO:0001627	intron_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70505028G>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7619C>A	4.37:g.70505028G>T			Somatic				UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.L111I|UGT2A1_uc021xox.1_Missense_Mutation_p.L111I|UGT2A1_uc010iht.3_Intron	p.L312I	NM_001252274	NP_001239203	WXS	Illumina GAIIx	Phase_I	Q9Y4X1	UD2A1_HUMAN			2	1050	-			102					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.934C>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271261	0.23221	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.62105	0.25;0.05	5.85	2.21	0.28008	.	.	.	.	.	T	0.53417	0.1795	L	0.42245	1.32	.	.	.	B;P	0.51653	0.379;0.947	B;P	0.46049	0.197;0.502	T	0.58306	-0.7659	8	0.23891	T	0.37	.	8.6156	0.33829	0.3816:0.0:0.6184:0.0	.	312;111	E9PDM7;Q9Y4X1-2	.;.	I	111;312	ENSP00000387888:L111I;ENSP00000425497:L312I	ENSP00000387888:L111I	L	-	1	0	UGT2A1	70539617	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.074000	0.11450	0.398000	0.25338	0.585000	0.79938	CTC		0.353	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		4	73	0	0	0	1	0	4	73					T	70505028	G	T	70505028	1	4	269	0	1	0	0	0	0	0	0	0	16951	942	33	4		4	UGT2A2	4	70505028	Intron	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		70505028	120649248	6	4712											
INTU	27152	broad.mit.edu	37	4	128627849	128627850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:128627849_128627850insA	ENST00000335251.6	+	12	2099_2100	c.1996_1997insA	c.(1996-1998)gaafs	p.E666fs		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	666					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGGATCACGTGAAAAAACAGAT	0.465																																						uc003ifk.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1996-1998)gaafs		Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.																																				SO:0001589	frameshift_variant	27152							g.chr4:128627849_128627850insA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2002dupA	4.37:g.128627855_128627855dupA	ENSP00000334003:p.Glu666fs		Somatic				INTU_uc011cgq.2_Non-coding_Transcript	p.E666fs	NM_015693	NP_056508	WXS	Illumina GAIIx	Phase_I	Q9ULD6	PDZD6_HUMAN			11	2099_2100	+			666					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Ins	INS	ENST00000335251.6	37	c.1996_1997insA	CCDS34061.1																																																																																				0.465	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		40	87						40	87	---	---	---	---	A	128627850	-	A	128627849	7	5	269	1	0	1	1	0	0	0	0	0	7786	1291	45	0	2042	0	INTU	4	128627849	Frame_Shift_Ins	INS	-	TCGA-EM-A3AN-01A-11D-A202-08	58122821	128627849	62526427	7	4713											
NR3C2	4306	broad.mit.edu	37	4	149075797	149075797	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:149075797G>C	ENST00000358102.3	-	5	2632	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.S761*|NR3C2_ENST00000355292.3_Nonsense_Mutation_p.S761*|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.S757*|NR3C2_ENST00000512865.1_Intron	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	757	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATCTGGTTTTGAGCTGTCATA	0.493																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0		p.S756C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2269-2271)tCa>tGa		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						208	204	205					4																	149075797		2203	4300	6503	SO:0001587	stop_gained	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075797G>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2270C>G	4.37:g.149075797G>C	ENSP00000350815:p.Ser757*		Somatic				NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	p.S757*	NM_000901	NP_000892	WXS	Illumina GAIIx	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	4	2633	-	all_hematologic(180;0.151)		757			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Nonsense_Mutation	SNP	ENST00000358102.3	37	c.2270C>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	44	11.115931	0.99518	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	.	.	.	5.91	5.91	0.95273	.	0.190944	0.46758	D	0.000262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	757;761;757;761	.	.	S	-	2	0	NR3C2	149295247	1.000000	0.71417	0.538000	0.28064	0.752000	0.42762	7.912000	0.87465	2.793000	0.96121	0.655000	0.94253	TCA		0.493	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	215	0	0	0	1	0	4	215					C	149075797	G	C	149075797	4	2	269	1	0	0	0	0	0	1	0	0	10631	1294	45	4	704	4	NR3C2	4	149075797	Nonsense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08	20447948	149075797	42078479	8	4714											
HACE1	57531	broad.mit.edu	37	6	105198273	105198273	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr6:105198273C>A	ENST00000262903.4	-	20	2562	c.2286G>T	c.(2284-2286)caG>caT	p.Q762H	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.Q547H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	762	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TATGAAAGCCCTGTAAAAAAG	0.383																																						uc003pqu.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2284-2286)caG>caT		Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.							111	105	107					6																	105198273		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198273C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2286G>T	6.37:g.105198273C>A	ENSP00000262903:p.Gln762His		Somatic				HACE1_uc010kcy.1_Missense_Mutation_p.Q244H|HACE1_uc010kcz.1_Missense_Mutation_p.Q547H|HACE1_uc010kcx.1_Missense_Mutation_p.Q171H|HACE1_uc003pqt.1_Missense_Mutation_p.Q415H	p.Q762H	NM_020771	NP_065822	WXS	Illumina GAIIx	Phase_I	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	19	2563	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	762			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2286G>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966103	0.53507	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58210	0.35;0.35	5.3	1.5	0.22942	HECT (4);	0.054165	0.85682	D	0.000000	T	0.42787	0.1218	L	0.35593	1.075	0.24617	N	0.993692	D;D;P;P	0.61697	0.99;0.962;0.728;0.799	D;P;P;B	0.74674	0.984;0.52;0.505;0.371	T	0.36601	-0.9741	10	0.66056	D	0.02	.	9.5813	0.39490	0.0:0.5734:0.0:0.4266	.	547;251;762;415	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	H	762;547	ENSP00000262903:Q762H;ENSP00000358121:Q547H	ENSP00000262903:Q762H	Q	-	3	2	HACE1	105304966	0.988000	0.35896	1.000000	0.80357	0.861000	0.49209	0.258000	0.18387	0.245000	0.21373	-0.253000	0.11424	CAG		0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		3	43	0	0	0	1	0	3	43					A	105198273	C	A	105198273	3	1	269	1	0	0	0	0	1	0	0	0	6940	680	24	4	463	4	HACE1	6	105198273	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		105198273	65916794	9	4715											
TSPAN33	340348	broad.mit.edu	37	7	128801563	128801563	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr7:128801563T>C	ENST00000289407.4	+	2	255	c.146T>C	c.(145-147)cTa>cCa	p.L49P		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	49					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TACGCTCGGCTAATGAAGCAT	0.572																																						uc003vop.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(145-147)cTa>cCa		Homo sapiens tetraspanin 33 (TSPAN33), mRNA.							242	185	205					7																	128801563		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128801563T>C		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.146T>C	7.37:g.128801563T>C	ENSP00000289407:p.Leu49Pro		Somatic					p.L49P	NM_178562	NP_848657	WXS	Illumina GAIIx	Phase_I	Q86UF1	TSN33_HUMAN			1	255	+			49						Missense_Mutation	SNP	ENST00000289407.4	37	c.146T>C	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819325	0.32145	.	.	ENSG00000158457	ENST00000289407	T	0.79454	-1.27	4.95	4.95	0.65309	.	0.165334	0.43260	D	0.000587	D	0.84079	0.5393	M	0.74467	2.265	0.80722	D	1	P	0.51537	0.946	P	0.56163	0.793	D	0.85706	0.1316	10	0.59425	D	0.04	-25.3258	12.5972	0.56476	0.0:0.0:0.0:1.0	.	49	Q86UF1	TSN33_HUMAN	P	49	ENSP00000289407:L49P	ENSP00000289407:L49P	L	+	2	0	TSPAN33	128588799	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	6.282000	0.72639	1.868000	0.54150	0.533000	0.62120	CTA		0.572	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		3	175	0	0	0	1	0	3	175					C	128801563	T	C	128801563	3	2	269	1	0	0	0	0	1	0	0	0	16645	1522	53	3	152	3	TSPAN33	7	128801563	Missense_Mutation	SNP	T	TCGA-EM-A3AN-01A-11D-A202-08		128801563	30337100	10	4716											
CSMD1	64478	broad.mit.edu	37	8	3008978	3008978	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr8:3008978G>T	ENST00000520002.1	-	41	6530	c.5975C>A	c.(5974-5976)cCa>cAa	p.P1992Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1992Q|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1992Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1992Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1991Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1992	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		GTAAGAACCTGGGAAGCCGGG	0.488																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(5971-5973)cCa>cAa		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							85	92	90					8																	3008978		2077	4238	6315	SO:0001583	missense	64478					integral to membrane		g.chr8:3008978G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5975C>A	8.37:g.3008978G>T	ENSP00000430733:p.Pro1992Gln		Somatic				CSMD1_uc011kwj.2_Missense_Mutation_p.P1384Q|CSMD1_uc003wqe.3_Missense_Mutation_p.P1148Q|CSMD1_uc010lrg.3_Missense_Mutation_p.P60Q	p.P1991Q	NM_033225	NP_150094	WXS	Illumina GAIIx	Phase_I	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)	39	6362	-		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)	1992			CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5972C>A		.	.	.	.	.	.	.	.	.	.	G	17.87	3.494150	0.64186	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.54071	1.4;1.4;1.4;1.4;0.59	4.79	4.79	0.61399	CUB (5);	0.000000	0.64402	D	0.000001	D	0.84211	0.5422	H	0.98818	4.34	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;0.999;1.0;0.994	D	0.91449	0.5180	10	0.87932	D	0	.	17.8564	0.88765	0.0:0.0:1.0:0.0	.	1992;1992;1991;1992	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	Q	1992;1992;1853;1991;1991;1991	ENSP00000383047:P1992Q;ENSP00000430733:P1992Q;ENSP00000441462:P1991Q;ENSP00000446243:P1991Q;ENSP00000441675:P1991Q	ENSP00000320445:P1853Q	P	-	2	0	CSMD1	2996385	1.000000	0.71417	0.087000	0.20705	0.167000	0.22549	9.527000	0.98044	2.186000	0.69663	0.650000	0.86243	CCA		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	28	0	0	0	1	0	10	28					T	3008978	G	T	3008978	3	4	269	1	0	0	0	0	1	0	0	0	3944	1348	47	4	4846	4	CSMD1	8	3008978	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		3008978	143355044	11	4717											
OR4C6	219432	broad.mit.edu	37	11	55432991	55432991	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr11:55432991G>C	ENST00000314259.3	+	1	378	c.349G>C	c.(349-351)Gcc>Ccc	p.A117P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACTGTGATGGCCTATGACCG	0.567																																						uc010rik.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(349-351)Gcc>Ccc		Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.							112	102	106					11																	55432991		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432991G>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.349G>C	11.37:g.55432991G>C	ENSP00000324769:p.Ala117Pro		Somatic					p.A117P	NM_001004704	NP_001004704	WXS	Illumina GAIIx	Phase_I	Q8NH72	OR4C6_HUMAN			0	349	+			117					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.349G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027740	0.54790	.	.	ENSG00000181903	ENST00000314259	T	0.56103	0.48	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.198321	0.24813	N	0.035392	T	0.81269	0.4787	H	0.98048	4.135	0.31439	N	0.672153	D	0.63046	0.992	D	0.68039	0.955	D	0.87168	0.2219	10	0.87932	D	0	.	14.3601	0.66766	0.0:0.0:1.0:0.0	.	117	Q8NH72	OR4C6_HUMAN	P	117	ENSP00000324769:A117P	ENSP00000324769:A117P	A	+	1	0	OR4C6	55189567	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	4.040000	0.57333	1.698000	0.51180	0.543000	0.68304	GCC		0.567	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		3	98	0	0	0	1	0	3	98					C	55432991	G	C	55432991	3	2	269	1	0	0	0	0	1	0	0	0	11052	1203	42	4	351	4	OR4C6	11	55432991	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		55432991	79573525	12	4718											
SSTR2	6752	broad.mit.edu	37	17	71166132	71166132	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr17:71166132G>T	ENST00000357585.2	+	2	1043	c.674G>T	c.(673-675)tGt>tTt	p.C225F	SSTR2_ENST00000315332.2_Missense_Mutation_p.C225F|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	225					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ACCATCATCTGTCTTTGCTAC	0.502																																						uc002jje.3																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(673-675)tGt>tTt		Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.							128	119	122					17																	71166132		2203	4300	6503	SO:0001583	missense	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166132G>T		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.674G>T	17.37:g.71166132G>T	ENSP00000350198:p.Cys225Phe		Somatic				SSTR2_uc021ucm.1_Missense_Mutation_p.C225F	p.C225F	NM_001050	NP_001041	WXS	Illumina GAIIx	Phase_I	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	1034	+			225					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.674G>T	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824926	0.71143	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.72505	-0.66;-0.66	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.045624	0.85682	D	0.000000	D	0.84561	0.5499	M	0.76433	2.335	0.80722	D	1	D	0.60575	0.988	D	0.73708	0.981	D	0.85688	0.1305	10	0.87932	D	0	.	19.2963	0.94124	0.0:0.0:1.0:0.0	.	225	P30874	SSR2_HUMAN	F	225	ENSP00000350198:C225F;ENSP00000326616:C225F	ENSP00000326616:C225F	C	+	2	0	SSTR2	68677727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.657000	0.90304	0.655000	0.94253	TGT		0.502	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			18	145	0	0	0	1	0	18	145					T	71166132	G	T	71166132	3	4	269	1	0	0	0	0	1	0	0	0	15197	1377	48	4	676	4	SSTR2	17	71166132	Missense_Mutation	SNP	G	TCGA-EM-A3AN-01A-11D-A202-08		71166132	10029078	13	4719											
KLHL14	57565	broad.mit.edu	37	18	30349946	30349946	+	Silent	SNP	C	C	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr18:30349946C>T	ENST00000359358.4	-	2	1047	c.609G>A	c.(607-609)aaG>aaA	p.K203K	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.K203K	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	203						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTTGGCCAGCTTCTTGGTCT	0.627																																						uc002kxm.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(607-609)aaG>aaA		Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.							117	92	100					18																	30349946		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349946C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.609G>A	18.37:g.30349946C>T			Somatic					p.K203K	NM_020805	NP_065856	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			1	997	-			203					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.609G>A	CCDS32813.1																																																																																				0.627	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	114	0	0	0	1	0	4	114					T	30349946	C	T	30349946	2	4	269	1	0	0	0	0	0	0	0	1	8370	796	28	2		2	KLHL14	18	30349946	Silent	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		30349946	47727302	14	4720											
POU2F2	5452	broad.mit.edu	37	19	42603703	42603703	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr19:42603703C>A	ENST00000526816.2	-	7	492	c.477G>T	c.(475-477)caG>caT	p.Q159H	POU2F2_ENST00000529952.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000342301.4_Missense_Mutation_p.Q159H|POU2F2_ENST00000529067.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000389341.5_Missense_Mutation_p.Q159H|POU2F2_ENST00000560398.1_Missense_Mutation_p.Q181H|POU2F2_ENST00000533720.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000560558.1_Missense_Mutation_p.Q120H			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	159					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CGGCCCGGGGCTGGGAGGTCA	0.607																																						uc002osp.3																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(475-477)caG>caT		Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.							42	44	43					19																	42603703		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42603703C>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9213	protein-coding gene	gene with protein product		164176	"POU domain class 2, transcription factor 2"	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.477G>T	19.37:g.42603703C>A	ENSP00000431603:p.Gln159His		Somatic				POU2F2_uc002osn.3_Missense_Mutation_p.Q159H|POU2F2_uc002osq.3_Missense_Mutation_p.Q159H|POU2F2_uc002osr.2_Missense_Mutation_p.Q159H	p.Q159H	NM_001207025	NP_001193954	WXS	Illumina GAIIx	Phase_I	P09086	PO2F2_HUMAN			6	539	-		Prostate(69;0.059)	159					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.477G>T	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659375	0.67586	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.85258	-1.77;-1.96;-1.89;-1.58;-1.85	4.84	3.81	0.43845	.	0.224628	0.37577	N	0.002034	D	0.89577	0.6755	M	0.66297	2.02	0.33449	D	0.583462	P;P;D	0.57571	0.831;0.947;0.98	P;P;P	0.61592	0.712;0.459;0.891	D	0.93004	0.6426	10	0.87932	D	0	.	12.7305	0.57195	0.0:0.9188:0.0:0.0812	.	159;159;159	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	H	159;159;159;159;158;159;159	ENSP00000373992:Q159H;ENSP00000339369:Q159H;ENSP00000437221:Q159H;ENSP00000437224:Q159H;ENSP00000436988:Q159H	ENSP00000292077:Q159H	Q	-	3	2	POU2F2	47295543	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	0.439000	0.21575	1.420000	0.47138	-0.126000	0.14955	CAG		0.607	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			14	32	0	0	0	1	0	14	32					A	42603703	C	A	42603703	3	1	269	1	0	0	0	0	1	0	0	0	12272	796	28	4	946	4	POU2F2	19	42603703	Missense_Mutation	SNP	C	TCGA-EM-A3AN-01A-11D-A202-08		42603703	16525280	15	4721											
NHEDC2	133308	broad.mit.edu	37	4	103988620	103988620	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr4:103988620G>A	ENST00000394785.3	-	2	719	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	SLC9B2_ENST00000339611.4_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503230.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000362026.3_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503103.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	30					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										AGATTTACCTGTGCTTCTTGA	0.368																																						uc003hwx.4																			0											c.(88-90)Cag>Tag		Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.							260	221	234					4																	103988620		2203	4300	6503	SO:0001587	stop_gained	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103988620G>A	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"Solute carriers"	25143	protein-coding gene	gene with protein product		611789	"Na+/H+ exchanger domain containing 2", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.88C>T	4.37:g.103988620G>A	ENSP00000378265:p.Gln30*		Somatic				SLC9B2_uc003hwy.3_Nonsense_Mutation_p.Q30*|SLC9B2_uc011cew.2_Nonsense_Mutation_p.Q30*|SLC9B2_uc011cex.1_Nonsense_Mutation_p.Q30*|SLC9B2_uc011cey.2_Nonsense_Mutation_p.Q30*	p.Q30*	NM_178833	NP_849155	WXS	Illumina GAIIx	Phase_I	Q86UD5	NHDC2_HUMAN			1	960	-			30					B5ME52|Q6ZMD8|Q96D95	Nonsense_Mutation	SNP	ENST00000394785.3	37	c.88C>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	38	6.709784	0.97780	.	.	ENSG00000164038	ENST00000362026;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230;ENST00000503818	.	.	.	3.84	3.84	0.44239	.	0.282038	0.25253	N	0.032019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-2.2493	11.585	0.50912	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000345241:Q30X	Q	-	1	0	SLC9B2	104208069	0.994000	0.37717	0.869000	0.34112	0.773000	0.43773	3.549000	0.53681	2.438000	0.82558	0.655000	0.94253	CAG		0.368	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		5	85	0	0	0	1	0	5	85					A	103988620	G	A	103988620	4	1	270	1	0	0	0	0	0	1	0	0	10401	1386	48	2	1569	2	NHEDC2	4	103988620	Nonsense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		103988620	87165656	1	4722											
PDE5A	8654	broad.mit.edu	37	4	120463753	120463753	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr4:120463753G>C	ENST00000354960.3	-	10	1752	c.1433C>G	c.(1432-1434)aCt>aGt	p.T478S	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.T426S|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.T436S	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	478	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACCTTGCCAGTATTCTCCTC	0.388																																						uc003idh.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1432-1434)aCt>aGt		Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						134	126	129					4																	120463753		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120463753G>C	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1433C>G	4.37:g.120463753G>C	ENSP00000347046:p.Thr478Ser		Somatic				PDE5A_uc003idf.3_Missense_Mutation_p.T436S|PDE5A_uc003idg.3_Missense_Mutation_p.T426S|AF085995_uc003idi.4_Intron	p.T478S	NM_001083	NP_246273	WXS	Illumina GAIIx	Phase_I	O76074	PDE5A_HUMAN			9	1588	-			478			GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1433C>G	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	8.446	0.852067	0.17034	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.62364	0.03;0.08;0.07	5.28	5.28	0.74379	GAF (2);	1.452780	0.03810	N	0.265747	T	0.39410	0.1077	N	0.01410	-0.885	0.26629	N	0.972507	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10222	-1.0639	10	0.02654	T	1	.	19.2601	0.93964	0.0:0.0:1.0:0.0	.	478;436	O76074;O76074-2	PDE5A_HUMAN;.	S	478;426;436	ENSP00000347046:T478S;ENSP00000377957:T426S;ENSP00000264805:T436S	ENSP00000264805:T436S	T	-	2	0	PDE5A	120683201	0.999000	0.42202	0.027000	0.17364	0.927000	0.56198	7.791000	0.85805	2.641000	0.89580	0.650000	0.86243	ACT		0.388	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		33	56	0	0	0	1	0	33	56					C	120463753	G	C	120463753	3	2	270	1	0	0	0	0	1	0	0	0	11644	1029	36	4	1242	4	PDE5A	4	120463753	Missense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08	16475133	120463753	70690523	2	4723											
DLGAP2	9228	broad.mit.edu	37	8	1497638	1497638	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:1497638T>C	ENST00000421627.2	+	2	913	c.779T>C	c.(778-780)cTc>cCc	p.L260P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	339					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GACCTGTCCCTCAAGACCTCC	0.667																																						uc003wpl.3																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(778-780)cTc>cCc		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							50	57	55					8																	1497638		2115	4247	6362	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497638T>C	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.779T>C	8.37:g.1497638T>C	ENSP00000400258:p.Leu260Pro		Somatic				DLGAP2_uc003wpm.3_Missense_Mutation_p.L260P	p.L260P	NM_004745	NP_004736	WXS	Illumina GAIIx	Phase_I	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	1	876	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	339					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.779T>C	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.85|18.85	3.711050|3.711050	0.68730|0.68730	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19250|.	2.16|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80481|0.80481	0.4631|0.4631	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.84080|0.84080	0.0384|0.0384	10|5	0.87932|.	D|.	0|.	-12.3503|-12.3503	15.2356|15.2356	0.73427|0.73427	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	339;339|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	P|P	305;260|277	ENSP00000400258:L260P|.	ENSP00000348366:L305P|.	L|S	+|+	2|1	0|0	DLGAP2|DLGAP2	1485045|1485045	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.603000|0.603000	0.37013|0.37013	7.262000|7.262000	0.78410|0.78410	1.992000|1.992000	0.58205|0.58205	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		3	127	0	0	0	1	0	3	127					C	1497638	T	C	1497638	3	2	270	1	0	0	0	0	1	0	0	0	4560	1551	54	3	781	3	DLGAP2	8	1497638	Missense_Mutation	SNP	T	TCGA-EM-A3AO-01A-11D-A202-08		1497638	144866384	3	4724											
TG	7038	broad.mit.edu	37	8	133883736	133883736	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr8:133883736T>G	ENST00000220616.4	+	4	458	c.418T>G	c.(418-420)Tgt>Ggt	p.C140G	TG_ENST00000377869.1_Missense_Mutation_p.C140G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	140	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		CCAGTGCTGGTGTGTGGACGC	0.597																																						uc003ytw.3																			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.(418-420)Tgt>Ggt		Homo sapiens thyroglobulin (TG), mRNA.							146	107	120					8																	133883736		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883736T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.418T>G	8.37:g.133883736T>G	ENSP00000220616:p.Cys140Gly		Somatic					p.C140G	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	3	459	+	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)	140			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.418T>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489231	0.64074	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.87412	-2.25;-2.25	5.58	5.58	0.84498	Thyroglobulin type-1 (6);	0.000000	0.64402	D	0.000001	D	0.95778	0.8626	H	0.97682	4.055	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.97027	0.9747	10	0.87932	D	0	.	13.4922	0.61402	0.0:0.0:0.0:1.0	.	140	P01266	THYG_HUMAN	G	140	ENSP00000367100:C140G;ENSP00000220616:C140G	ENSP00000220616:C140G	C	+	1	0	TG	133952918	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.304000	0.78882	2.125000	0.65367	0.377000	0.23210	TGT		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		27	50	0	0	0	1	0	27	50					G	133883736	T	G	133883736	3	3	270	1	0	0	0	0	1	0	0	0	15810	1696	59	5	432	5	TG	8	133883736	Missense_Mutation	SNP	T	TCGA-EM-A3AO-01A-11D-A202-08	132386098	133883736	12480286	4	4725											
TNKS1BP1	85456	broad.mit.edu	37	11	57075943	57075943	+	Silent	SNP	G	G	A			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr11:57075943G>A	ENST00000532437.1	-	5	4553	c.4242C>T	c.(4240-4242)taC>taT	p.Y1414Y	TNKS1BP1_ENST00000358252.3_Silent_p.Y1414Y|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1414	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAGACGAGGAGTAATCTTCAC	0.602																																						uc001njr.3																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4240-4242)taC>taT		Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.							194	202	199					11																	57075943		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57075943G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4242C>T	11.37:g.57075943G>A			Somatic				TNKS1BP1_uc001njs.3_Silent_p.Y1414Y|TNKS1BP1_uc009ymd.1_Silent_p.Y865Y	p.Y1414Y	NM_033396	NP_203754	WXS	Illumina GAIIx	Phase_I	Q9C0C2	TB182_HUMAN			4	4554	-		all_epithelial(135;0.21)	1414			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.4242C>T	CCDS7951.1																																																																																				0.602	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		130	287	0	0	0	1	0	130	287					A	57075943	G	A	57075943	2	1	270	1	0	0	0	0	0	0	0	1	16317	1024	36	2		2	TNKS1BP1	11	57075943	Silent	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		57075943	77930573	5	4726											
MYH6	4624	broad.mit.edu	37	14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr14:23866411C>T	ENST00000356287.3	-	16	2047	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000405093.3_Missense_Mutation_p.R673H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin motor.				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)	p.R673H(1)		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)		GATGATGCAACGCACAAAGTG	0.542																																						uc001wjv.3																			1	Substitution - Missense(1)	p.R673H(2)	prostate(1)	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.(2017-2019)cGt>cAt		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.							167	159	161					14																	23866411		2203	4300	6503	SO:0001583	missense	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	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866411C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2018G>A	14.37:g.23866411C>T	ENSP00000348634:p.Arg673His		Somatic					p.R673H	NM_002471	NP_002462	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	16	2089	-	all_cancers(95;2.54e-05)		673			Actin-binding.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2018G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.865066	0.91511	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90620	-2.7;-2.7	4.26	4.26	0.50523	Myosin head, motor domain (2);	.	.	.	.	D	0.97813	0.9282	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99705	1.1005	9	0.87932	D	0	.	17.2018	0.86908	0.0:1.0:0.0:0.0	.	673	P13533	MYH6_HUMAN	H	673	ENSP00000386041:R673H;ENSP00000348634:R673H	ENSP00000348634:R673H	R	-	2	0	MYH6	22936251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.219000	0.78000	2.382000	0.81193	0.650000	0.86243	CGT		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			64	138	0	0	0	1	0	64	138					T	23866411	C	T	23866411	3	4	270	1	0	0	0	0	1	0	0	0	10038	536	19	1	3893	1	MYH6	14	23866411	Missense_Mutation	SNP	C	TCGA-EM-A3AO-01A-11D-A202-08		23866411	83483129	6	4727											
ITGAL	3683	broad.mit.edu	37	16	30495432	30495432	+	Splice_Site	DEL	A	A	-			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr16:30495432delA	ENST00000356798.6	+	9	1035		c.e9-1		RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000358164.5_Splice_Site|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTCCCTCACAGATTGGAAAG	0.488																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.e9-2		Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	Efalizumab(DB00095)						114	111	112					16																	30495432		2197	4300	6497	SO:0001630	splice_region_variant	3683				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495432delA		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.856-1A>-	16.37:g.30495432delA			Somatic				ITGAL_uc010veu.1_Splice_Site|ITGAL_uc002dyj.4_Splice_Site_p.I203_splice|ITGAL_uc010vev.2_Intron	p.I286_splice	NM_002209	NP_002200	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			9	1032	+			286			VWFA.		O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	DEL	ENST00000356798.6	37	c.856_splice	CCDS32433.1																																																																																				0.488	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Intron	82	147						82	147	---	---	---	---	-	30495432	A	-	30495432	8	5	270	1	0	1	0	1	0	0	1	0	7886	202	7	0	888	0	ITGAL	16	30495432	Splice_Site	DEL	A	TCGA-EM-A3AO-01A-11D-A202-08		30495432	59859321	7	4728											
NEK8	284086	broad.mit.edu	37	17	27068491	27068491	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:27068491A>G	ENST00000268766.6	+	14	1986	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	TRAF4_ENST00000444415.3_5'Flank|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000262395.5_5'Flank|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	651					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGGATGAGGATGCCGGACTC	0.592																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.3																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1951-1953)gAt>gGt		Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.							141	109	120					17																	27068491		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068491A>G	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1952A>G	17.37:g.27068491A>G	ENSP00000268766:p.Asp651Gly		Somatic				TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	p.D651G	NM_178170	NP_835464	WXS	Illumina GAIIx	Phase_I	Q86SG6	NEK8_HUMAN			13	1952	+	Lung NSC(42;0.0158)		651					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1952A>G	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482019	0.26598	.	.	ENSG00000160602	ENST00000268766	D	0.81579	-1.51	5.61	5.61	0.85477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.111165	0.64402	D	0.000008	T	0.70996	0.3288	L	0.38175	1.15	0.58432	D	0.999997	B	0.13145	0.007	B	0.12156	0.007	T	0.66563	-0.5892	10	0.39692	T	0.17	.	9.4751	0.38867	0.9213:0.0:0.0787:0.0	.	651	Q86SG6	NEK8_HUMAN	G	651	ENSP00000268766:D651G	ENSP00000268766:D651G	D	+	2	0	NEK8	24092618	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	7.554000	0.82212	2.127000	0.65507	0.533000	0.62120	GAT		0.592	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			26	52	0	0	0	1	0	26	52					G	27068491	A	G	27068491	3	3	270	1	0	0	0	0	1	0	0	0	10330	333	12	3	2006	3	NEK8	17	27068491	Missense_Mutation	SNP	A	TCGA-EM-A3AO-01A-11D-A202-08		27068491	54126719	8	4729											
BCAS3	54828	broad.mit.edu	37	17	59024649	59024649	+	Missense_Mutation	SNP	G	G	C	rs200515922	byFrequency	TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr17:59024649G>C	ENST00000390652.5	+	14	1188	c.1157G>C	c.(1156-1158)tGg>tCg	p.W386S	BCAS3_ENST00000588462.1_Missense_Mutation_p.W386S|BCAS3_ENST00000585744.1_Missense_Mutation_p.W157S|BCAS3_ENST00000588874.1_Missense_Mutation_p.W157S|BCAS3_ENST00000408905.3_Missense_Mutation_p.W386S|BCAS3_ENST00000407086.3_Missense_Mutation_p.W386S|BCAS3_ENST00000589222.1_Missense_Mutation_p.W386S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ACTCATCCTTGGTCCTCATCA	0.413																																						uc002iyv.4																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1156-1158)tGg>tCg		Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.							205	188	194					17																	59024649		1917	4145	6062	SO:0001583	missense	54828					nucleus		g.chr17:59024649G>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1157G>C	17.37:g.59024649G>C	ENSP00000375067:p.Trp386Ser		Somatic				BCAS3_uc010wow.1_Missense_Mutation_p.W173S|BCAS3_uc002iyu.4_Missense_Mutation_p.W386S|BCAS3_uc002iyw.4_Missense_Mutation_p.W382S|BCAS3_uc002iyx.1_Missense_Mutation_p.W201S|BCAS3_uc002iyy.4_Missense_Mutation_p.W157S	p.W386S	NM_001099432	NP_001092902	WXS	Illumina GAIIx	Phase_I	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		13	1266	+			386						Missense_Mutation	SNP	ENST00000390652.5	37	c.1157G>C	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693408	0.48202	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.05717	3.4;3.4;3.4	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	N	0.21545	0.675	0.80722	D	1	B;B;D;D;D	0.64830	0.267;0.001;0.994;0.99;0.994	B;B;D;D;D	0.75484	0.116;0.003;0.986;0.969;0.986	T	0.30208	-0.9986	10	0.18710	T	0.47	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	177;191;386;386;386	B4E3M9;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;BCAS3_HUMAN;.	S	386;386;386;386;178;191	ENSP00000375067:W386S;ENSP00000385323:W386S;ENSP00000386173:W386S	ENSP00000353336:W178S	W	+	2	0	BCAS3	56379431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.519000	0.81809	2.717000	0.92951	0.585000	0.79938	TGG		0.413	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		7	209	0	0	0	1	0	7	209					C	59024649	G	C	59024649	3	2	270	1	0	0	0	0	1	0	0	0	1352	1357	47	4	1207	4	BCAS3	17	59024649	Missense_Mutation	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08	31956158	59024649	22170561	9	4730											
KCNG2	26251	broad.mit.edu	37	18	77659600	77659600	+	Silent	SNP	G	G	A			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr18:77659600G>A	ENST00000316249.3	+	2	1185	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	395					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGGCATCCTGCTCATGGCCT	0.692																																						uc010xfl.2																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1183-1185)ctG>ctA		Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.							63	58	59					18																	77659600		2203	4300	6503	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659600G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1185G>A	18.37:g.77659600G>A			Somatic					p.L395L	NM_012283	NP_036415	WXS	Illumina GAIIx	Phase_I	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	1185	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	395						Silent	SNP	ENST00000316249.3	37	c.1185G>A	CCDS12019.1																																																																																				0.692	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		7	73	0	0	0	1	0	7	73					A	77659600	G	A	77659600	2	1	270	1	0	0	0	0	0	0	0	1	8028	1306	46	2		2	KCNG2	18	77659600	Silent	SNP	G	TCGA-EM-A3AO-01A-11D-A202-08		77659600	417648	10	4731											
LRRN4	164312	broad.mit.edu	37	20	6022440	6022440	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AO-01A-11D-A202-08	TCGA-EM-A3AO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fcc88f7-6d11-4c1f-8267-639d9460860b	a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb	g.chr20:6022440C>T	ENST00000378858.4	-	5	1675	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	484					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						AGGGAAGGGGCCCAGGAGCTT	0.657																																						uc002wmo.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1450-1452)gGc>gAc		Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.							105	112	109					20																	6022440		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022440C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1451G>A	20.37:g.6022440C>T	ENSP00000368135:p.Gly484Asp		Somatic					p.G484D	NM_152611	NP_689824	WXS	Illumina GAIIx	Phase_I	Q8WUT4	LRRN4_HUMAN			4	1675	-			484					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1451G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190693	0.09547	.	.	ENSG00000125872	ENST00000378858	T	0.57273	0.41	4.87	-1.82	0.07857	.	1.523810	0.03764	N	0.258592	T	0.31765	0.0807	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.06197	-1.0840	10	0.09084	T	0.74	-0.0398	1.3776	0.02224	0.337:0.3209:0.0927:0.2494	.	484	Q8WUT4	LRRN4_HUMAN	D	484	ENSP00000368135:G484D	ENSP00000368135:G484D	G	-	2	0	LRRN4	5970440	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.871000	0.04223	-0.577000	0.05967	-1.134000	0.01955	GGC		0.657	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		45	115	0	0	0	1	0	45	115					T	6022440	C	T	6022440	3	4	270	1	0	0	0	0	1	0	0	0	9037	739	26	2	775	2	LRRN4	20	6022440	Missense_Mutation	SNP	C	TCGA-EM-A3AO-01A-11D-A202-08		6022440	57003080	11	4732											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		90	204	0	0	0	1	0	90	204					T	115256530	G	T	115256530	3	4	271	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		115256530	133994091	1	4733											
KIF14	9928	broad.mit.edu	37	1	200539119	200539119	+	Missense_Mutation	SNP	A	A	T	rs369078617		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:200539119A>T	ENST00000367350.4	-	23	4019	c.3581T>A	c.(3580-3582)aTg>aAg	p.M1194K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTGTTCTTCATCAAACTCCT	0.289																																						uc010ppk.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(3580-3582)aTg>aAg		Homo sapiens kinesin family member 14 (KIF14), mRNA.							113	116	115					1																	200539119		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200539119A>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3581T>A	1.37:g.200539119A>T	ENSP00000356319:p.Met1194Lys		Somatic				KIF14_uc010ppj.1_Missense_Mutation_p.M703K	p.M1194K	NM_014875	NP_055690	WXS	Illumina GAIIx	Phase_I	Q15058	KIF14_HUMAN			22	4020	-			1194			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3581T>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905213	0.52333	.	.	ENSG00000118193	ENST00000367350	T	0.15834	2.39	5.68	4.55	0.56014	.	0.053961	0.85682	D	0.000000	T	0.16085	0.0387	M	0.62723	1.935	0.36834	D	0.887056	P	0.44816	0.844	B	0.36666	0.23	T	0.12553	-1.0543	10	0.45353	T	0.12	.	8.1761	0.31283	0.7955:0.1345:0.07:0.0	.	1194	Q15058	KIF14_HUMAN	K	1194	ENSP00000356319:M1194K	ENSP00000356319:M1194K	M	-	2	0	KIF14	198805742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.511000	0.60462	0.973000	0.38340	0.482000	0.46254	ATG		0.289	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		41	84	0	0	0	1	0	41	84					T	200539119	A	T	200539119	3	4	271	1	0	0	0	0	1	0	0	0	8276	217	8	5	1397	5	KIF14	1	200539119	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	85282589	200539119	48711502	2	4734											
OR2M2	391194	broad.mit.edu	37	1	248344320	248344320	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr1:248344320T>C	ENST00000359682.2	+	1	1033	c.1033T>C	c.(1033-1035)Tac>Cac	p.Y345H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGATTATGTACATTGCCTA	0.264																																						uc010pzf.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(1033-1035)Tac>Cac		Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.							115	124	121					1																	248344320		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344320T>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.1033T>C	1.37:g.248344320T>C	ENSP00000352710:p.Tyr345His		Somatic					p.Y345H	NM_001004688	NP_001004688	WXS	Illumina GAIIx	Phase_I	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	1033	+	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)		345					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.1033T>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	4.930	0.172848	0.09391	.	.	ENSG00000198601	ENST00000359682	T	0.20463	2.07	2.77	0.0442	0.14224	.	.	.	.	.	T	0.09247	0.0228	N	0.14661	0.345	0.09310	N	1	B	0.32876	0.388	B	0.25987	0.065	T	0.25779	-1.0122	9	0.87932	D	0	.	2.3813	0.04355	0.2399:0.1535:0.0:0.6066	.	345	Q96R28	OR2M2_HUMAN	H	345	ENSP00000352710:Y345H	ENSP00000352710:Y345H	Y	+	1	0	OR2M2	246410943	.	.	0.001000	0.08648	0.002000	0.02628	.	.	0.175000	0.19841	-0.933000	0.02702	TAC		0.264	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		4	146	0	0	0	1	0	4	146					C	248344320	T	C	248344320	3	2	271	1	0	0	0	0	1	0	0	0	11010	1638	57	3	1035	3	OR2M2	1	248344320	Missense_Mutation	SNP	T	TCGA-EM-A3AP-01A-12D-A20C-08	47805201	248344320	906301	3	4735											
TMEM89	440955	broad.mit.edu	37	3	48658391	48658391	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr3:48658391G>A	ENST00000330862.3	-	2	462	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	122						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACCCCACGGAGCAGGGTGTGG	0.612																																						uc011bbo.2																			0				breast(1)|lung(1)|stomach(1)	3						c.(364-366)Ctc>Ttc		Homo sapiens transmembrane protein 89 (TMEM89), mRNA.							89	75	80					3																	48658391		2203	4300	6503	SO:0001583	missense	440955					integral to membrane		g.chr3:48658391G>A	AX657016	CCDS33751.1	3p21.31	2005-11-02			ENSG00000183396	ENSG00000183396			32372	protein-coding gene	gene with protein product							Standard	NM_001008269		Approved		uc011bbo.2	A2RUT3	OTTHUMG00000156647	ENST00000330862.3:c.364C>T	3.37:g.48658391G>A	ENSP00000329557:p.Leu122Phe		Somatic					p.L122F	NM_001008269	NP_001008270	WXS	Illumina GAIIx	Phase_I	A2RUT3	TMM89_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	364	-			122						Missense_Mutation	SNP	ENST00000330862.3	37	c.364C>T	CCDS33751.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976502	0.53720	.	.	ENSG00000183396	ENST00000330862	T	0.53206	0.63	4.83	1.93	0.25924	.	0.426079	0.17466	N	0.173268	T	0.51770	0.1694	L	0.42245	1.32	0.09310	N	1	D	0.63046	0.992	P	0.59487	0.858	T	0.39396	-0.9616	10	0.62326	D	0.03	-11.7667	8.0254	0.30434	0.0:0.3446:0.4898:0.1656	.	122	A2RUT3	TMM89_HUMAN	F	122	ENSP00000329557:L122F	ENSP00000329557:L122F	L	-	1	0	TMEM89	48633395	0.355000	0.24921	0.005000	0.12908	0.008000	0.06430	0.586000	0.23894	0.204000	0.20548	0.563000	0.77884	CTC		0.612	TMEM89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345046.1	NM_001008269		3	118	0	0	0	1	0	3	118					A	48658391	G	A	48658391	3	1	271	1	0	0	0	0	1	0	0	0	16210	971	34	2	118	2	TMEM89	3	48658391	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		48658391	149364039	4	4736											
CPE	1363	broad.mit.edu	37	4	166416761	166416761	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr4:166416761A>G	ENST00000402744.4	+	8	1544	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	422					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTATAAACTTACAGCCTCAGC	0.408																																						uc003irg.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1264-1266)Aca>Gca		Homo sapiens carboxypeptidase E (CPE), mRNA.	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						140	135	137					4																	166416761		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166416761A>G	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1264A>G	4.37:g.166416761A>G	ENSP00000386104:p.Thr422Ala		Somatic					p.T422A	NM_001873	NP_001864	WXS	Illumina GAIIx	Phase_I	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	7	1541	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	422					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.1264A>G	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019012	0.54576	.	.	ENSG00000109472	ENST00000402744	T	0.48522	0.81	5.65	5.65	0.86999	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.165377	0.53938	D	0.000051	T	0.49966	0.1588	M	0.67625	2.065	0.47065	D	0.999303	B	0.16166	0.016	B	0.19148	0.024	T	0.49597	-0.8923	10	0.66056	D	0.02	-6.5633	15.8663	0.79067	1.0:0.0:0.0:0.0	.	422	P16870	CBPE_HUMAN	A	422	ENSP00000386104:T422A	ENSP00000386104:T422A	T	+	1	0	CPE	166636211	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.360000	0.59455	2.152000	0.67230	0.482000	0.46254	ACA		0.408	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		10	181	0	0	0	1	0	10	181					G	166416761	A	G	166416761	3	3	271	1	0	0	0	0	1	0	0	0	3799	391	14	3	1294	3	CPE	4	166416761	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		166416761	24737515	5	4737											
IK	3550	broad.mit.edu	37	5	140032663	140032663	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr5:140032663A>T	ENST00000417647.2	+	5	477	c.338A>T	c.(337-339)gAt>gTt	p.D113V	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	113					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACAAAGATTATGAAGAA	0.502																																						uc003lgq.3																			0				large_intestine(1)	1						c.(337-339)gAt>gTt		Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.							105	102	103					5																	140032663		1952	4142	6094	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032663A>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.338A>T	5.37:g.140032663A>T	ENSP00000396301:p.Asp113Val		Somatic				IK_uc011czk.1_Missense_Mutation_p.D113V|IK_uc021yen.1_Missense_Mutation_p.D54V	p.D113V	NM_006083	NP_006074	WXS	Illumina GAIIx	Phase_I	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	448	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	113					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.338A>T	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.956340	0.92726	.	.	ENSG00000113141	ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.995;0.998	D	0.89941	0.4073	8	.	.	.	.	16.069	0.80909	1.0:0.0:0.0:0.0	.	113;113	Q9UK43;Q13123	.;RED_HUMAN	V	113;120;113;113;113	.	.	D	+	2	0	IK	140012847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.086000	0.94088	2.275000	0.75901	0.528000	0.53228	GAT		0.502	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		34	80	0	0	0	1	0	34	80					T	140032663	A	T	140032663	3	4	271	1	0	0	0	0	1	0	0	0	7608	333	12	5	356	5	IK	5	140032663	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		140032663	40882597	6	4738											
ADAMTS2	9509	broad.mit.edu	37	5	178541107	178541107	+	Missense_Mutation	SNP	G	G	A	rs545409845		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr5:178541107G>A	ENST00000251582.7	-	22	3498	c.3397C>T	c.(3397-3399)Cgg>Tgg	p.R1133W		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1133					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGATGGCCGCACCTCCATG	0.587													G|||	1	0.000199681	0	0	5008	,	,		18045	0.001		0	False		,,,				2504	0					uc003mjw.3																			0		p.R1133Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3397-3399)Cgg>Tgg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							176	153	161					5																	178541107		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541107G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3397C>T	5.37:g.178541107G>A	ENSP00000251582:p.Arg1133Trp		Somatic					p.R1133W	NM_014244	NP_055059	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	21	3499	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1133						Missense_Mutation	SNP	ENST00000251582.7	37	c.3397C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	7.367	0.625949	0.14257	.	.	ENSG00000087116	ENST00000251582	T	0.59906	0.23	5.05	3.23	0.37069	.	0.828579	0.10123	N	0.713134	T	0.29389	0.0732	N	0.08118	0	0.09310	N	1	P	0.35107	0.484	B	0.14023	0.01	T	0.12142	-1.0559	10	0.49607	T	0.09	.	4.5817	0.12262	0.2605:0.1681:0.5714:0.0	.	1133	O95450	ATS2_HUMAN	W	1133	ENSP00000251582:R1133W	ENSP00000251582:R1133W	R	-	1	2	ADAMTS2	178473713	0.002000	0.14202	0.001000	0.08648	0.025000	0.11179	1.318000	0.33643	0.481000	0.27557	0.561000	0.74099	CGG		0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	183	0	0	0	1	0	4	183					A	178541107	G	A	178541107	3	1	271	1	0	0	0	0	1	0	0	0	265	1086	38	1	242	1	ADAMTS2	5	178541107	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08	38508444	178541107	2374153	7	4739											
GPR116	221395	broad.mit.edu	37	6	46849818	46849818	+	Silent	SNP	T	T	C			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr6:46849818T>C	ENST00000283296.7	-	7	927	c.639A>G	c.(637-639)ccA>ccG	p.P213P	GPR116_ENST00000265417.7_Silent_p.P213P|GPR116_ENST00000456426.2_Silent_p.P213P|GPR116_ENST00000362015.4_Silent_p.P213P	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	213	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTTGAAGCCTGGTAAAATTC	0.378																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(637-639)ccA>ccG		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							151	161	157					6																	46849818		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46849818T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.639A>G	6.37:g.46849818T>C			Somatic				GPR116_uc003oyp.3_Silent_p.P213P|GPR116_uc003oyq.3_Silent_p.P213P|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.P213P	p.P213P	NM_001098518	NP_056049	WXS	Illumina GAIIx	Phase_I	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		6	928	-			213			SEA.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.639A>G	CCDS4919.1																																																																																				0.378	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		4	346	0	0	0	1	0	4	346					C	46849818	T	C	46849818	2	2	271	1	0	0	0	0	0	0	0	1	6633	1567	55	3		3	GPR116	6	46849818	Silent	SNP	T	TCGA-EM-A3AP-01A-12D-A20C-08		46849818	124265249	8	4740											
COL22A1	169044	broad.mit.edu	37	8	139890069	139890069	+	Silent	SNP	G	G	A			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr8:139890069G>A	ENST00000303045.6	-	3	1028	c.582C>T	c.(580-582)tcC>tcT	p.S194S	COL22A1_ENST00000435777.1_Silent_p.S194S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	194	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)			AGACGTGGGCGGACTTGGGCT	0.672										HNSCC(7;0.00092)																												uc003yvd.3																			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.(580-582)tcC>tcT		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							35	36	36					8																	139890069		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890069G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.582C>T	8.37:g.139890069G>A		HNSCC(7;0.00092)	Somatic					p.S194S	NM_152888	NP_690848	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		2	1029	-	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)		194			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.582C>T	CCDS6376.1																																																																																				0.672	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	85	0	0	0	1	0	3	85					A	139890069	G	A	139890069	2	1	271	1	0	0	0	0	0	0	0	1	3681	1103	39	1		1	COL22A1	8	139890069	Silent	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		139890069	6473953	9	4741											
TDRD1	56165	broad.mit.edu	37	10	115978234	115978234	+	Silent	SNP	A	A	G			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr10:115978234A>G	ENST00000369280.1	+	18	2845	c.2385A>G	c.(2383-2385)gtA>gtG	p.V795V	TDRD1_ENST00000422662.1_Silent_p.V399V|TDRD1_ENST00000369282.1_Silent_p.V795V|TDRD1_ENST00000251864.2_Silent_p.V795V|TDRD1_ENST00000369281.2_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	795	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATGTTAAAGTACATTTTGTGG	0.383																																						uc001lbg.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2383-2385)gtA>gtG		Homo sapiens tudor domain containing 1 (TDRD1), mRNA.							205	186	192					10																	115978234		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115978234A>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2385A>G	10.37:g.115978234A>G			Somatic				TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Silent_p.V786V|TDRD1_uc001lbi.1_Silent_p.V786V|TDRD1_uc010qsc.2_Silent_p.V399V|TDRD1_uc001lbj.3_Silent_p.V504V	p.V795V	NM_198795	NP_942090	WXS	Illumina GAIIx	Phase_I	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	17	2538	+		Colorectal(252;0.172)|Breast(234;0.188)	795			Tudor 3.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.2385A>G																																																																																					0.383	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			6	199	0	0	0	1	0	6	199					G	115978234	A	G	115978234	2	3	271	1	0	0	0	0	0	0	0	1	15727	378	14	3		3	TDRD1	10	115978234	Silent	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		115978234	19556513	10	4742											
MUC2	4583	broad.mit.edu	37	11	1094843	1094843	+	Silent	SNP	C	C	T	rs41417150		TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:1094843C>T	ENST00000441003.2	+	31	5958	c.5931C>T	c.(5929-5931)aaC>aaT	p.N1977N	MUC2_ENST00000361558.6_Silent_p.N115N|MUC2_ENST00000333592.6_Silent_p.N265N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4339					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)	GTGTCCTGAACGACACCTACT	0.617																																						uc001lsx.1																			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.(5917-5919)aaC>aaT		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)	C		0,4254		0,0,2127	176	190	185		5916	-0.4	0.2	11	dbSNP_127	185	3,8483		0,3,4240	no	coding-synonymous	MUC2	NM_002457.2		0,3,6367	TT,TC,CC		0.0354,0.0,0.0235		1972/2813	1094843	3,12737	2127	4243	6370	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1094843C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5931C>T	11.37:g.1094843C>T			Somatic					p.N1973N	NM_002457	NP_002448	WXS	Illumina GAIIx	Phase_I	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	5946	+		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)	2029					Q14878	Silent	SNP	ENST00000441003.2	37	c.5919C>T																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	352	0	0	0	1	0	6	352					T	1094843	C	T	1094843	2	4	271	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1094843	Silent	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08		1094843	133911673	11	4743											
CYB5R2	51700	broad.mit.edu	37	11	7687683	7687683	+	Splice_Site	SNP	A	A	C			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:7687683A>C	ENST00000533558.1	-	8	1213	c.657T>G	c.(655-657)atT>atG	p.I219M	CYB5R2_ENST00000524790.1_Splice_Site_p.I219M|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Splice_Site_p.I219M|CYB5R2_ENST00000299497.9_Splice_Site_p.I219M			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	219					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGTCGTACCAATGGGAGGCC	0.493											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mfm.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.e8+1		Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.							159	131	140					11																	7687683		2201	4296	6497	SO:0001630	splice_region_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7687683A>C	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.658+1T>G	11.37:g.7687683A>C			Somatic	OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	643	CYB5R2_uc001mfn.3_Splice_Site|CYB5R2_uc009yfk.3_Splice_Site_p.G220_splice	p.G220_splice	NM_016229	NP_057313	WXS	Illumina GAIIx	Phase_I	Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	8	896	-			220					Q9BVA3|Q9UF68|Q9UHJ0	Splice_Site	SNP	ENST00000533558.1	37	c.658_splice	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	A	8.672	0.903019	0.17760	.	.	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497	D;D;D;D	0.94650	-3.48;-2.12;-2.12;-3.48	5.8	2.01	0.26516	Oxidoreductase FAD/NAD(P)-binding (1);	1.916140	0.02613	N	0.102343	D	0.86674	0.5989	N	0.08118	0	0.24401	N	0.994701	B	0.24368	0.102	B	0.19946	0.027	T	0.78033	-0.2362	10	0.72032	D	0.01	-0.1615	1.5636	0.02600	0.4965:0.1502:0.0833:0.27	.	219	Q6BCY4	NB5R2_HUMAN	M	219	ENSP00000435916:I219M;ENSP00000299498:I219M;ENSP00000437041:I219M;ENSP00000299497:I219M	ENSP00000299497:I219M	I	-	3	3	CYB5R2	7644259	0.001000	0.12720	0.523000	0.27875	0.053000	0.15095	-0.132000	0.10467	0.449000	0.26747	0.533000	0.62120	ATT		0.493	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229	Missense_Mutation	14	77	0	0	0	1	0	14	77					C	7687683	A	C	7687683	5	2	271	1	0	0	0	0	0	0	1	0	4127	144	5	5	181	5	CYB5R2	11	7687683	Splice_Site	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	6592840	7687683	127318833	12	4744											
CTNND1	1500	broad.mit.edu	37	11	57573460	57573460	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr11:57573460A>C	ENST00000399050.4	+	10	2365	c.1829A>C	c.(1828-1830)aAt>aCt	p.N610T	CTNND1_ENST00000524630.1_Missense_Mutation_p.N610T|CTNND1_ENST00000532245.1_Missense_Mutation_p.N509T|CTNND1_ENST00000528232.1_Missense_Mutation_p.N509T|CTNND1_ENST00000534579.1_Missense_Mutation_p.N556T|CTNND1_ENST00000529986.1_Missense_Mutation_p.N509T|CTNND1_ENST00000529919.1_Missense_Mutation_p.N610T|CTNND1_ENST00000426142.2_Missense_Mutation_p.N509T|CTNND1_ENST00000525902.1_Missense_Mutation_p.N287T|CTNND1_ENST00000532787.1_Missense_Mutation_p.N509T|CTNND1_ENST00000526938.1_Missense_Mutation_p.N610T|CTNND1_ENST00000526357.1_Missense_Mutation_p.N556T|CTNND1_ENST00000530094.1_Missense_Mutation_p.N509T|CTNND1_ENST00000415361.2_Missense_Mutation_p.N509T|CTNND1_ENST00000526772.1_Missense_Mutation_p.N287T|CTNND1_ENST00000428599.2_Missense_Mutation_p.N610T|CTNND1_ENST00000399039.4_Missense_Mutation_p.N610T|CTNND1_ENST00000529873.1_Missense_Mutation_p.N556T|CTNND1_ENST00000358694.6_Missense_Mutation_p.N610T|CTNND1_ENST00000360682.6_Missense_Mutation_p.N610T|CTNND1_ENST00000532649.1_Missense_Mutation_p.N556T|CTNND1_ENST00000532844.1_Missense_Mutation_p.N556T|CTNND1_ENST00000361332.4_Missense_Mutation_p.N610T|CTNND1_ENST00000528621.1_Missense_Mutation_p.N556T|CTNND1_ENST00000532463.1_Missense_Mutation_p.N509T|CTNND1_ENST00000527467.1_Missense_Mutation_p.N287T|CTNND1_ENST00000361391.6_Missense_Mutation_p.N610T|CTNND1_ENST00000529526.1_Missense_Mutation_p.N556T|CTNND1_ENST00000361796.4_Missense_Mutation_p.N610T|CTNND1_ENST00000531014.1_Missense_Mutation_p.N287T|CTNND1_ENST00000530748.1_Missense_Mutation_p.N556T|CTNND1_ENST00000533667.1_Missense_Mutation_p.N287T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	610					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GTTGCCAACAATACTGGGCCA	0.498																																						uc001nmc.4																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(1828-1830)aAt>aCt		Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.							90	87	88					11																	57573460		1942	4138	6080	SO:0001583	missense	1500				Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57573460A>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1829A>C	11.37:g.57573460A>C	ENSP00000382004:p.Asn610Thr		Somatic				CTNND1_uc001nlf.2_Missense_Mutation_p.N610T|CTNND1_uc021qjk.1_Missense_Mutation_p.N610T|CTNND1_uc001nlh.1_Missense_Mutation_p.N610T|CTNND1_uc001nlj.4_Missense_Mutation_p.N556T|CTNND1_uc001nlq.4_Missense_Mutation_p.N509T|CTNND1_uc001nlr.4_Missense_Mutation_p.N556T|CTNND1_uc001nln.4_Missense_Mutation_p.N610T|CTNND1_uc001nli.4_Missense_Mutation_p.N610T|CTNND1_uc001nlo.4_Missense_Mutation_p.N509T|CTNND1_uc001nlp.4_Missense_Mutation_p.N556T|CTNND1_uc001nlu.4_Missense_Mutation_p.N509T|CTNND1_uc001nlt.4_Missense_Mutation_p.N509T|CTNND1_uc001nlv.4_Missense_Mutation_p.N509T|CTNND1_uc001nls.4_Missense_Mutation_p.N509T|CTNND1_uc001nlw.4_Missense_Mutation_p.N509T|CTNND1_uc001nmf.4_Missense_Mutation_p.N610T|CTNND1_uc001nlx.4_Missense_Mutation_p.N287T|CTNND1_uc001nlz.4_Missense_Mutation_p.N287T|CTNND1_uc009ymn.3_Missense_Mutation_p.N287T|CTNND1_uc001nly.4_Missense_Mutation_p.N287T|CTNND1_uc001nmb.4_Missense_Mutation_p.N287T|CTNND1_uc001nma.4_Missense_Mutation_p.N287T|CTNND1_uc001nmd.4_Missense_Mutation_p.N556T|CTNND1_uc001nlk.4_Missense_Mutation_p.N556T|CTNND1_uc001nme.4_Missense_Mutation_p.N610T|CTNND1_uc001nll.4_Missense_Mutation_p.N556T|CTNND1_uc001nlm.4_Missense_Mutation_p.N610T|CTNND1_uc001nmi.4_Missense_Mutation_p.N509T|CTNND1_uc001nmg.4_Missense_Mutation_p.N556T|CTNND1_uc001nmh.4_Missense_Mutation_p.N610T	p.N610T	NM_001085458	NP_001078932	WXS	Illumina GAIIx	Phase_I	O60716	CTND1_HUMAN			9	2400	+		all_epithelial(135;0.155)	610					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1829A>C	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311886	0.60414	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.91	0.811	0.18739	Armadillo-like helical (1);Armadillo-type fold (1);	0.355141	0.36972	N	0.002306	T	0.68348	0.2991	L	0.31926	0.97	0.29982	N	0.81765	D;D;D;P;P;P;P;P;D	0.56521	0.976;0.976;0.958;0.774;0.667;0.774;0.73;0.774;0.958	P;P;P;B;B;B;B;B;P	0.51615	0.675;0.675;0.475;0.299;0.209;0.299;0.284;0.299;0.475	T	0.66689	-0.5860	10	0.48119	T	0.1	-0.1875	9.5278	0.39175	0.6212:0.0:0.3788:0.0	.	610;610;610;509;556;556;610;610;610	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	T	610;610;610;610;610;556;509;610;610;610;509;509;610;509;287;556;556;556;610;287;509;287;287;556;287;556;556;509;509;509;556;610	ENSP00000436543:N610T;ENSP00000434808:N610T;ENSP00000381996:N610T;ENSP00000353902:N610T;ENSP00000354907:N610T;ENSP00000436323:N556T;ENSP00000409930:N509T;ENSP00000382004:N610T;ENSP00000354785:N610T;ENSP00000354823:N610T;ENSP00000432075:N509T;ENSP00000437156:N509T;ENSP00000351527:N610T;ENSP00000434949:N509T;ENSP00000437051:N287T;ENSP00000435379:N556T;ENSP00000432243:N556T;ENSP00000436744:N556T;ENSP00000413586:N610T;ENSP00000434900:N287T;ENSP00000435266:N509T;ENSP00000432623:N287T;ENSP00000433158:N287T;ENSP00000435494:N556T;ENSP00000434672:N287T;ENSP00000433276:N556T;ENSP00000433334:N556T;ENSP00000437327:N509T;ENSP00000403518:N509T;ENSP00000434017:N509T;ENSP00000435789:N556T;ENSP00000432041:N610T	ENSP00000351527:N610T	N	+	2	0	CTNND1	57330036	0.098000	0.21812	0.997000	0.53966	0.992000	0.81027	0.494000	0.22467	-0.097000	0.12307	0.533000	0.62120	AAT		0.498	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		3	29	0	0	0	1	0	3	29					C	57573460	A	C	57573460	3	2	271	1	0	0	0	0	1	0	0	0	4019	101	4	5	1859	5	CTNND1	11	57573460	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	49885777	57573460	77433056	13	4745											
STUB1	339123	broad.mit.edu	37	16	732365	732365	+	3'UTR	SNP	G	G	A			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:732365G>A	ENST00000293882.4	-	0	1433				STUB1_ENST00000565677.1_Splice_Site_p.R191H|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|LA16c-313D11.9_ENST00000567091.1_RNA|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000219548.4_Splice_Site_p.R263H|JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000564370.1_Splice_Site_p.R191H			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						TCACTGCAGCGTGTGGGTCAT	0.617																																						uc002cit.3																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.e7-1		Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.							82	75	77					16																	732365		2201	4300	6501	SO:0001624	3_prime_UTR_variant	10273				DNA repair|cellular response to misfolded protein|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein autoubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|SMAD binding|TPR domain binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|ubiquitin-ubiquitin ligase activity	g.chr16:732365G>A		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*429C>T	16.37:g.732365G>A			Somatic				STUB1_uc002ciu.3_Splice_Site_p.R191_splice|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.R263_splice	NM_005861	NP_005852	WXS	Illumina GAIIx	Phase_I	Q9UNE7	CHIP_HUMAN			7	1198	+		Hepatocellular(780;0.00335)	263			U-box.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Splice_Site	SNP	ENST00000293882.4	37	c.787_splice		.	.	.	.	.	.	.	.	.	.	G	16.24	3.066264	0.55539	.	.	ENSG00000103266	ENST00000219548	T	0.15952	2.38	5.18	4.22	0.49857	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.068719	0.64402	D	0.000009	T	0.34745	0.0908	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.02837	-1.1104	10	0.41790	T	0.15	-10.62	12.7883	0.57518	0.0793:0.0:0.9207:0.0	.	263	Q9UNE7	CHIP_HUMAN	H	263	ENSP00000219548:R263H	ENSP00000219548:R263H	R	+	2	0	STUB1	672366	1.000000	0.71417	0.992000	0.48379	0.051000	0.14879	9.780000	0.99024	1.179000	0.42884	0.561000	0.74099	CGT		0.617	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		5	156	0	0	0	1	0	5	156					A	732365	G	A	732365	1	1	271	0	1	0	0	0	0	0	0	0	15334	1159	40	1		1	STUB1	16	732365	3'UTR	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		732365	89622388	14	4746											
PDPR	55066	broad.mit.edu	37	16	70187304	70187304	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:70187304A>T	ENST00000288050.4	+	18	3020	c.2063A>T	c.(2062-2064)cAt>cTt	p.H688L	PDPR_ENST00000398122.3_Missense_Mutation_p.H588L|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Missense_Mutation_p.H688L|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Missense_Mutation_p.H33L|PDPR_ENST00000567046.1_Missense_Mutation_p.H46L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	688					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TACGCCCTGCATGTATACAAT	0.448																																						uc002eyf.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2062-2064)cAt>cTt		Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.							110	109	109					16																	70187304		1983	4175	6158	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187304A>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2063A>T	16.37:g.70187304A>T	ENSP00000288050:p.His688Leu		Somatic				CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.H588L|PDPR_uc002eyg.1_Intron|PDPR_uc002eyh.2_Missense_Mutation_p.H33L|PDPR_uc010vls.1_Missense_Mutation_p.H33L	p.H688L	NM_017990	NP_060460	WXS	Illumina GAIIx	Phase_I	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	17	3020	+			688					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2063A>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024459	0.93518	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.75589	-0.95;-0.95;-0.95	5.74	5.74	0.90152	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	M	0.84948	2.725	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.87305	0.2308	10	0.45353	T	0.12	.	15.511	0.75782	1.0:0.0:0.0:0.0	.	688	Q8NCN5	PDPR_HUMAN	L	688;588;33	ENSP00000288050:H688L;ENSP00000381190:H588L;ENSP00000441690:H33L	ENSP00000288050:H688L	H	+	2	0	PDPR	68744805	1.000000	0.71417	0.964000	0.40570	0.955000	0.61496	9.255000	0.95524	2.317000	0.78254	0.459000	0.35465	CAT		0.448	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		10	47	0	0	0	1	0	10	47					T	70187304	A	T	70187304	3	4	271	1	0	0	0	0	1	0	0	0	11689	217	8	5	2125	5	PDPR	16	70187304	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	69454939	70187304	20167449	15	4747											
CDH13	1012	broad.mit.edu	37	16	83520201	83520201	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr16:83520201A>G	ENST00000566620.1	+	7	1191	c.901A>G	c.(901-903)Atc>Gtc	p.I301V	CDH13_ENST00000428848.3_Missense_Mutation_p.I262V|CDH13_ENST00000268613.10_Missense_Mutation_p.I348V|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	301	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATGTTCTACATCGATCCTGA	0.493																																						uc010vns.2																			0				large_intestine(1)	1						c.(1042-1044)Atc>Gtc		Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.							98	96	97					16																	83520201		2061	4219	6280	SO:0001583	missense	1012				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83520201A>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.901A>G	16.37:g.83520201A>G	ENSP00000454435:p.Ile301Val		Somatic				CDH13_uc002fgx.3_Missense_Mutation_p.I301V|CDH13_uc010vnt.2_Missense_Mutation_p.I47V|CDH13_uc010vnu.2_Missense_Mutation_p.I262V	p.I348V	NM_001220488	NP_001207417	WXS	Illumina GAIIx	Phase_I	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	7	1306	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	301			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1042A>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535009	0.85812	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.66638	-0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78792	0.4339	M	0.66297	2.02	0.80722	D	1	D;P;D	0.57571	0.965;0.492;0.98	D;P;D	0.74348	0.957;0.897;0.983	T	0.75300	-0.3366	9	0.21014	T	0.42	.	15.3166	0.74085	1.0:0.0:0.0:0.0	.	262;348;301	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	V	348;301;262	ENSP00000268613:I348V	ENSP00000268613:I348V	I	+	1	0	CDH13	82077702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.565000	0.90730	2.207000	0.71202	0.533000	0.62120	ATC		0.493	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		4	135	0	0	0	1	0	4	135					G	83520201	A	G	83520201	3	3	271	1	0	0	0	0	1	0	0	0	3099	217	8	3	927	3	CDH13	16	83520201	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	13332897	83520201	6834552	16	4748											
EBI3	10148	broad.mit.edu	37	19	4234672	4234672	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:4234672G>T	ENST00000221847.5	+	4	441	c.388G>T	c.(388-390)Gac>Tac	p.D130Y		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	130	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCAAGCCCGACCCTCCAGA	0.547																																						uc002lzu.3																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(388-390)Gac>Tac		Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.							85	95	91					19																	4234672		2203	4300	6503	SO:0001583	missense	10148				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4234672G>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.388G>T	19.37:g.4234672G>T	ENSP00000221847:p.Asp130Tyr		Somatic					p.D130Y	NM_005755	NP_005746	WXS	Illumina GAIIx	Phase_I	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	3	396	+		Hepatocellular(1079;0.137)	130			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.388G>T	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080001	0.55753	.	.	ENSG00000105246	ENST00000221847	T	0.58940	0.3	4.17	4.17	0.49024	Long hematopoietin receptor, soluble alpha chain, conserved site (1);Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.116139	0.56097	D	0.000031	T	0.74779	0.3761	M	0.81802	2.56	0.46044	D	0.998831	D	0.89917	1.0	D	0.79108	0.992	T	0.78607	-0.2138	10	0.87932	D	0	-27.3491	11.9055	0.52708	0.0:0.0:1.0:0.0	.	130	Q14213	IL27B_HUMAN	Y	130	ENSP00000221847:D130Y	ENSP00000221847:D130Y	D	+	1	0	EBI3	4185672	0.998000	0.40836	0.935000	0.37517	0.634000	0.38068	3.379000	0.52440	2.178000	0.69098	0.555000	0.69702	GAC		0.547	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			8	274	0	0	0	1	0	8	274					T	4234672	G	T	4234672	3	4	271	1	0	0	0	0	1	0	0	0	4883	1058	37	4	402	4	EBI3	19	4234672	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		4234672	54894311	17	4749											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						uc002mkp.3																			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.(982-984)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G			Somatic					p.P328P	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	1188	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	98	0	0	0	1	0	3	98					G	9090831	A	G	9090831	2	3	271	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	4856159	9090831	50038152	18	4750											
RTN2	6253	broad.mit.edu	37	19	45996575	45996575	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr19:45996575A>C	ENST00000245923.4	-	5	1111	c.876T>G	c.(874-876)atT>atG	p.I292M	RTN2_ENST00000590526.1_Missense_Mutation_p.I18M|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	292					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACAATTCCAAAATTGGAACCG	0.502																																						uc002pcb.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(874-876)atT>atG		Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.							53	56	55					19																	45996575		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996575A>C	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.876T>G	19.37:g.45996575A>C	ENSP00000245923:p.Ile292Met		Somatic				RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	p.I292M	NM_005619	NP_005610	WXS	Illumina GAIIx	Phase_I	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	4	1106	-		Ovarian(192;0.051)|all_neural(266;0.112)	292					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.876T>G	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	A	9.795	1.178987	0.21787	.	.	ENSG00000125744	ENST00000245923	T	0.49139	0.79	4.42	2.35	0.29111	.	1.301390	0.05745	N	0.602129	T	0.28863	0.0716	N	0.08118	0	0.18873	N	0.999985	B	0.22003	0.063	B	0.21917	0.037	T	0.26326	-1.0106	10	0.48119	T	0.1	2.3463	5.7463	0.18122	0.7888:0.0:0.2112:0.0	.	292	O75298	RTN2_HUMAN	M	292	ENSP00000245923:I292M	ENSP00000245923:I292M	I	-	3	3	RTN2	50688415	0.184000	0.23200	0.007000	0.13788	0.889000	0.51656	1.970000	0.40520	0.482000	0.27582	0.383000	0.25322	ATT		0.502	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		3	155	0	0	0	1	0	3	155					C	45996575	A	C	45996575	3	2	271	1	0	0	0	0	1	0	0	0	13726	10	1	5	789	5	RTN2	19	45996575	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08	36905744	45996575	13132408	19	4751											
COL20A1	57642	broad.mit.edu	37	20	61956821	61956821	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr20:61956821G>A	ENST00000358894.6	+	28	3423	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	COL20A1_ENST00000422202.1_Missense_Mutation_p.G1115E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G1140E|COL20A1_ENST00000435874.1_Missense_Mutation_p.G1115E	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1108	Collagen-like 1.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGAGAAGGGAGACCATGGG	0.667																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3322-3324)gGa>gAa		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							49	57	54					20																	61956821		1890	4120	6010	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61956821G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3323G>A	20.37:g.61956821G>A	ENSP00000351767:p.Gly1108Glu		Somatic				COL20A1_uc011aav.2_Missense_Mutation_p.G929E	p.G1108E	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			27	3423	+	all_cancers(38;1.39e-10)		1108			Collagen-like 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3323G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375536	0.42105	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.99619	-6.28;-6.0;-6.28;-6.28;-6.28;-5.77	3.66	3.66	0.41972	.	0.000000	0.85682	U	0.000000	D	0.99743	0.9898	H	0.97783	4.075	0.47407	D	0.999418	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97427	1.0013	10	0.87932	D	0	.	10.8729	0.46894	0.0:0.0:1.0:0.0	.	1115;1108	Q9P218-2;Q9P218	.;COKA1_HUMAN	E	1108;1140;1115;1115;243;98	ENSP00000351767:G1108E;ENSP00000323077:G1140E;ENSP00000408690:G1115E;ENSP00000414753:G1115E;ENSP00000410799:G243E;ENSP00000406345:G98E	ENSP00000323077:G1140E	G	+	2	0	COL20A1	61427266	0.992000	0.36948	1.000000	0.80357	0.306000	0.27790	2.736000	0.47385	1.608000	0.50180	0.467000	0.42956	GGA		0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		5	122	0	0	0	1	0	5	122					A	61956821	G	A	61956821	3	1	271	1	0	0	0	0	1	0	0	0	3679	1174	41	2	3429	2	COL20A1	20	61956821	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		61956821	1068699	20	4752											
DGCR8	54487	broad.mit.edu	37	22	20079439	20079439	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chr22:20079439G>A	ENST00000351989.3	+	7	1981	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E518K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E518K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	518	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATCCTGCACGAGTACATGCA	0.463																																						uc002zri.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1552-1554)Gag>Aag		Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.							128	114	119					22																	20079439		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079439G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1552G>A	22.37:g.20079439G>A	ENSP00000263209:p.Glu518Lys		Somatic				DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K	p.E518K	NM_022720	NP_073557	WXS	Illumina GAIIx	Phase_I	Q8WYQ5	DGCR8_HUMAN			6	1981	+	Colorectal(54;0.0993)		518			DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1552G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425213	0.96131	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	D;T;T	0.82344	-1.6;-0.79;-0.79	5.1	4.05	0.47172	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85099	2.735	0.80722	D	1	B;D	0.89917	0.189;1.0	B;D	0.91635	0.046;0.999	D	0.92124	0.5706	10	0.87932	D	0	-23.0849	13.8046	0.63223	0.0768:0.0:0.9232:0.0	.	518;518	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	518	ENSP00000263209:E518K;ENSP00000372488:E518K;ENSP00000384726:E518K	ENSP00000263209:E518K	E	+	1	0	DGCR8	18459439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.634000	0.89283	0.591000	0.81541	GAG		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			32	31	0	0	0	1	0	32	31					A	20079439	G	A	20079439	3	1	271	1	0	0	0	0	1	0	0	0	4464	1059	37	1	1574	1	DGCR8	22	20079439	Missense_Mutation	SNP	G	TCGA-EM-A3AP-01A-12D-A20C-08		20079439	31225127	21	4753											
STS	412	broad.mit.edu	37	X	7177465	7177465	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:7177465A>G	ENST00000217961.4	+	5	693	c.473A>G	c.(472-474)tAt>tGt	p.Y158C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	158					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GGCTTCAATTATTTCTATGGG	0.522									Ichthyosis																													uc004cry.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(472-474)tAt>tGt		Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	Estrone(DB00655)						125	104	111					X																	7177465		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7177465A>G	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.473A>G	X.37:g.7177465A>G	ENSP00000217961:p.Tyr158Cys		Somatic					p.Y158C	NM_000351	NP_000342	WXS	Illumina GAIIx	Phase_I	P08842	STS_HUMAN			4	718	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	158					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.473A>G	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447726	0.26074	.	.	ENSG00000101846	ENST00000217961	D	0.98732	-5.1	3.83	3.83	0.44106	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.420420	0.26478	N	0.024160	D	0.99342	0.9769	H	0.96604	3.85	0.45490	D	0.998455	D	0.89917	1.0	D	0.81914	0.995	D	0.98839	1.0754	10	0.72032	D	0.01	.	10.9776	0.47475	1.0:0.0:0.0:0.0	.	158	P08842	STS_HUMAN	C	158	ENSP00000217961:Y158C	ENSP00000217961:Y158C	Y	+	2	0	STS	7187465	1.000000	0.71417	0.003000	0.11579	0.003000	0.03518	6.208000	0.72165	1.242000	0.43836	0.486000	0.48141	TAT		0.522	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		3	138	0	0	0	1	0	3	138					G	7177465	A	G	7177465	3	3	271	1	0	0	0	0	1	0	0	0	15331	449	16	3	491	3	STS	23	7177465	Missense_Mutation	SNP	A	TCGA-EM-A3AP-01A-12D-A20C-08		7177465	148093095	22	4754											
ZIC3	7547	broad.mit.edu	37	X	136649433	136649433	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AP-01A-12D-A20C-08	TCGA-EM-A3AP-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ca262c-a3df-4cca-94ed-46e626da1321	fcd4c6c0-a804-409c-a0d3-950106b65912	g.chrX:136649433C>T	ENST00000287538.5	+	1	1133	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Missense_Mutation_p.R195C	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	195					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTGTTCGGCCGTGCTGACCC	0.672																																						uc004fak.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(583-585)Cgt>Tgt		Homo sapiens Zic family member 3 (ZIC3), mRNA.							25	27	26					X																	136649433		2183	4239	6422	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649433C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"Zinc fingers, C2H2-type"	12874	protein-coding gene	gene with protein product		300265	"heterotaxy 1", "Zic family member 3 (odd-paired homolog, Drosophila)"	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.583C>T	X.37:g.136649433C>T	ENSP00000287538:p.Arg195Cys		Somatic					p.R195C	NM_003413	NP_003404	WXS	Illumina GAIIx	Phase_I	O60481	ZIC3_HUMAN			0	1088	+	Acute lymphoblastic leukemia(192;0.000127)		195					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.583C>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.757102	0.69648	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.60548	0.18;0.18	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78553	-0.2160	10	0.62326	D	0.03	.	15.2367	0.73436	0.0:1.0:0.0:0.0	.	195	O60481	ZIC3_HUMAN	C	195	ENSP00000287538:R195C;ENSP00000359638:R195C	ENSP00000287538:R195C	R	+	1	0	ZIC3	136477099	0.992000	0.36948	0.988000	0.46212	0.990000	0.78478	3.104000	0.50306	2.155000	0.67459	0.597000	0.82753	CGT		0.672	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	112	0	0	0	1	0	4	112					T	136649433	C	T	136649433	3	4	271	1	0	0	0	0	1	0	0	0	17677	652	23	1	585	1	ZIC3	23	136649433	Missense_Mutation	SNP	C	TCGA-EM-A3AP-01A-12D-A20C-08	129471968	136649433	18621127	23	4755											
DTL	51514	broad.mit.edu	37	1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr1:212220678G>A	ENST00000366991.4	+	5	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.V85I	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																																						uc009xdc.3																			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		Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.							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	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding	g.chr1:212220678G>A	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.379G>A	1.37:g.212220678G>A	ENSP00000355958:p.Val127Ile		Somatic				DTL_uc010ptb.2_Missense_Mutation_p.V85I|DTL_uc001hiz.4_5'UTR	p.V127I	NM_016448	NP_057532	WXS	Illumina GAIIx	Phase_I	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	4	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	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	DTL	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	NM_016448		5	192	0	0	0	1	0	5	192					A	212220678	G	A	212220678	3	1	272	1	0	0	0	0	1	0	0	0	4787	1145	40	1	397	1	DTL	1	212220678	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		212220678	37029943	1	4756											
ATP6V1C2	245973	broad.mit.edu	37	2	10917833	10917833	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr2:10917833T>A	ENST00000272238.4	+	11	1057	c.948T>A	c.(946-948)agT>agA	p.S316R	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	316					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.S316fs*14(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGAGAGAGTGAGGGCGAGG	0.602																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.3																			1	Deletion - Frameshift(1)	p.S316fs*14(1)	skin(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(946-948)agT>agA		Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.							68	68	68					2																	10917833		1884	4108	5992	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917833T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.948T>A	2.37:g.10917833T>A	ENSP00000272238:p.Ser316Arg		Somatic				ATP6V1C2_uc002rat.3_Intron	p.S316R	NM_001039362	NP_001034451	WXS	Illumina GAIIx	Phase_I	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	10	1057	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		316					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.948T>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830360	0.50845	.	.	ENSG00000143882	ENST00000272238	T	0.43688	0.94	5.54	4.39	0.52855	.	0.160511	0.28766	U	0.014209	T	0.35941	0.0949	L	0.51422	1.61	0.80722	D	1	B	0.28470	0.213	B	0.28465	0.09	T	0.19484	-1.0304	10	0.59425	D	0.04	-14.3505	8.0649	0.30654	0.0:0.0918:0.0:0.9082	.	316	Q8NEY4	VATC2_HUMAN	R	316	ENSP00000272238:S316R	ENSP00000272238:S316R	S	+	3	2	ATP6V1C2	10835284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.426000	0.34870	0.928000	0.37168	0.482000	0.46254	AGT		0.602	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		4	140	0	0	0	1	0	4	140					A	10917833	T	A	10917833	3	1	272	1	0	0	0	0	1	0	0	0	1181	1693	59	5	986	5	ATP6V1C2	2	10917833	Missense_Mutation	SNP	T	TCGA-EM-A3AQ-01A-11D-A20C-08		10917833	232281540	2	4757											
STT3B	201595	broad.mit.edu	37	3	31641886	31641886	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr3:31641886A>G	ENST00000295770.2	+	5	1021	c.812A>G	c.(811-813)aAt>aGt	p.N271S	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	271					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTATCATCAATCTTATTCCA	0.299																																						uc011axe.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(811-813)aAt>aGt		Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.							143	134	137					3																	31641886		2202	4297	6499	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31641886A>G	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.812A>G	3.37:g.31641886A>G	ENSP00000295770:p.Asn271Ser		Somatic				STT3B_uc003cer.1_Missense_Mutation_p.N271S|STT3B_uc010hft.1_Missense_Mutation_p.N271S	p.N271S	NM_178862	NP_849193	WXS	Illumina GAIIx	Phase_I	Q8TCJ2	STT3B_HUMAN			4	812	+			271					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.812A>G	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596325	0.86953	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91304	0.5069	9	0.87932	D	0	-17.9132	15.0891	0.72180	1.0:0.0:0.0:0.0	.	271	Q8TCJ2	STT3B_HUMAN	S	271	.	ENSP00000295770:N271S	N	+	2	0	STT3B	31616890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.690000	0.91272	2.182000	0.69389	0.528000	0.53228	AAT		0.299	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		5	102	0	0	0	1	0	5	102					G	31641886	A	G	31641886	3	3	272	1	0	0	0	0	1	0	0	0	15333	101	4	3	830	3	STT3B	3	31641886	Missense_Mutation	SNP	A	TCGA-EM-A3AQ-01A-11D-A20C-08		31641886	166380544	3	4758											
SEL1L3	23231	broad.mit.edu	37	4	25785870	25785870	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr4:25785870T>C	ENST00000399878.3	-	14	2382	c.2260A>G	c.(2260-2262)Atg>Gtg	p.M754V	SEL1L3_ENST00000264868.5_Missense_Mutation_p.M719V|SEL1L3_ENST00000502949.1_Missense_Mutation_p.M601V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	754						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCTTTCTTCATCAGCTCTAAG	0.438																																						uc003gru.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2260-2262)Atg>Gtg		Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.							228	228	228					4																	25785870		2021	4178	6199	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25785870T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2260A>G	4.37:g.25785870T>C	ENSP00000382767:p.Met754Val		Somatic				SEL1L3_uc003grv.3_Missense_Mutation_p.M161V	p.M754V	NM_015187	NP_056002	WXS	Illumina GAIIx	Phase_I	Q68CR1	SE1L3_HUMAN			13	2412	-			754					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2260A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920473	0.73213	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.50548	0.74;0.74;0.74	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.048817	0.85682	D	0.000000	T	0.49643	0.1569	N	0.14661	0.345	0.40760	D	0.982994	P;D	0.54047	0.884;0.964	P;P	0.60886	0.761;0.88	T	0.56842	-0.7912	10	0.54805	T	0.06	-28.5897	15.4199	0.75003	0.0:0.0:0.0:1.0	.	161;754	B4DTH5;Q68CR1	.;SE1L3_HUMAN	V	754;719;601	ENSP00000382767:M754V;ENSP00000264868:M719V;ENSP00000425438:M601V	ENSP00000264868:M719V	M	-	1	0	SEL1L3	25394968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.836000	0.55813	2.136000	0.66102	0.454000	0.30748	ATG		0.438	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		17	192	0	0	0	1	0	17	192					C	25785870	T	C	25785870	3	2	272	1	0	0	0	0	1	0	0	0	14012	1435	50	3	1182	3	SEL1L3	4	25785870	Missense_Mutation	SNP	T	TCGA-EM-A3AQ-01A-11D-A20C-08		25785870	165368406	4	4759											
RNF39	80352	broad.mit.edu	37	6	30043521	30043521	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:30043521C>T	ENST00000244360.6	-	1	143	c.46G>A	c.(46-48)Gag>Aag	p.E16K	RNF39_ENST00000376751.3_Missense_Mutation_p.E16K	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	16						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										GGGATTGCCTCTCTCTTCAAC	0.587																																					NSCLC(8;188 360 1520 20207 31481)	uc003npe.3																			0											c.(46-48)Gag>Aag		Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.							53	55	54					6																	30043521		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043521C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.46G>A	6.37:g.30043521C>T	ENSP00000244360:p.Glu16Lys		Somatic				RNF39_uc003npd.3_Missense_Mutation_p.E16K	p.E16K	NM_025236	NP_079512	WXS	Illumina GAIIx	Phase_I	Q9H2S5	RNF39_HUMAN			0	108	-			16					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.46G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	17.97	3.518650	0.64634	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.72505	-0.22;-0.66	3.71	-2.71	0.05986	.	.	.	.	.	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12293	-1.0553	9	0.23302	T	0.38	.	2.0814	0.03635	0.1315:0.3582:0.3093:0.201	.	16;16	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	K	16	ENSP00000365942:E16K;ENSP00000244360:E16K	ENSP00000244360:E16K	E	-	1	0	RNF39	30151500	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.310000	0.19356	-0.453000	0.07076	0.436000	0.28706	GAG		0.587	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		51	88	0	0	0	1	0	51	88					T	30043521	C	T	30043521	3	4	272	1	0	0	0	0	1	0	0	0	13491	922	32	2	1232	2	RNF39	6	30043521	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		30043521	141071546	5	4760											
RPL10A	4736	broad.mit.edu	37	6	35436757	35436757	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:35436757G>T	ENST00000322203.6	+	3	141	c.114G>T	c.(112-114)ttG>ttT	p.L38F	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	38					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						AGATCAGCTTGAAGAACTATG	0.657																																						uc003okp.1																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(112-114)ttG>ttT		Homo sapiens ribosomal protein L10a (RPL10A), mRNA.							40	39	39					6																	35436757		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.chr6:35436757G>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.114G>T	6.37:g.35436757G>T	ENSP00000363018:p.Leu38Phe		Somatic				RPL10A_uc003oks.1_5'UTR	p.L38F	NM_007104	NP_009035	WXS	Illumina GAIIx	Phase_I	P62906	RL10A_HUMAN			2	148	+			38					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.114G>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848894	0.71603	.	.	ENSG00000198755	ENST00000322203	T	0.54866	0.55	5.13	3.3	0.37823	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.079960	0.46442	D	0.000299	T	0.65333	0.2681	M	0.89030	3	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.70022	-0.4986	10	0.87932	D	0	.	8.7856	0.34818	0.083:0.403:0.5141:0.0	.	38	P62906	RL10A_HUMAN	F	38	ENSP00000363018:L38F	ENSP00000363018:L38F	L	+	3	2	RPL10A	35544735	1.000000	0.71417	0.986000	0.45419	0.944000	0.59088	2.621000	0.46418	0.522000	0.28464	0.478000	0.44815	TTG		0.657	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		30	43	0	0	0	1	0	30	43					T	35436757	G	T	35436757	3	4	272	1	0	0	0	0	1	0	0	0	13555	1281	45	4	124	4	RPL10A	6	35436757	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	5393236	35436757	135678310	6	4761											
KCND2	3751	broad.mit.edu	37	7	119915766	119915766	+	Silent	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr7:119915766C>T	ENST00000331113.4	+	1	2045	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	360					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCCCTGCAGCCTTCTGGTATA	0.512																																						uc003vjj.1																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1078-1080)gcC>gcT		Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.							121	104	110					7																	119915766		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915766C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1080C>T	7.37:g.119915766C>T			Somatic					p.A360A	NM_012281	NP_036413	WXS	Illumina GAIIx	Phase_I	Q9NZV8	KCND2_HUMAN			0	2045	+	all_neural(327;0.117)		360					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1080C>T	CCDS5776.1																																																																																				0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		13	135	0	0	0	1	0	13	135					T	119915766	C	T	119915766	2	4	272	1	0	0	0	0	0	0	0	1	8019	668	24	2		2	KCND2	7	119915766	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		119915766	39222897	7	4762											
ATAD2	29028	broad.mit.edu	37	8	124361673	124361673	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr8:124361673G>A	ENST00000287394.5	-	14	1765	c.1658C>T	c.(1657-1659)tCc>tTc	p.S553F	ATAD2_ENST00000521903.1_Intron|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	553					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGCAGGGTGGAAACAATAGA	0.358																																						uc003yqh.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1657-1659)tCc>tTc		Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.							92	87	89					8																	124361673		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124361673G>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1658C>T	8.37:g.124361673G>A	ENSP00000287394:p.Ser553Phe		Somatic				ATAD2_uc011lii.2_Missense_Mutation_p.S344F|ATAD2_uc003yqi.4_Intron|ATAD2_uc003yqj.3_Missense_Mutation_p.S553F|Mir_548_uc022ban.1_5'Flank	p.S553F	NM_014109	NP_054828	WXS	Illumina GAIIx	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1766	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		553					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1658C>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957457	0.92726	.	.	ENSG00000156802	ENST00000287394	D	0.93659	-3.26	5.7	5.7	0.88788	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.106729	0.64402	D	0.000003	D	0.96321	0.8800	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96387	0.9286	10	0.87932	D	0	-8.2973	19.8338	0.96646	0.0:0.0:1.0:0.0	.	553	Q6PL18	ATAD2_HUMAN	F	553	ENSP00000287394:S553F	ENSP00000287394:S553F	S	-	2	0	ATAD2	124430854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.692000	0.91855	0.591000	0.81541	TCC		0.358	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		5	122	0	0	0	1	0	5	122					A	124361673	G	A	124361673	3	1	272	1	0	0	0	0	1	0	0	0	1071	1174	41	2	2574	2	ATAD2	8	124361673	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		124361673	22002349	8	4763											
BAT2L1	84726	broad.mit.edu	37	9	134351428	134351428	+	Silent	SNP	C	C	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:134351428C>A	ENST00000357304.4	+	15	3967	c.3912C>A	c.(3910-3912)ccC>ccA	p.P1304P	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1304							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						GAAGGCGCCCCCCACGCCAAG	0.637											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004can.4																			0		p.R1303C(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3910-3912)ccC>ccA		Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.							53	62	59					9																	134351428		1907	4125	6032	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134351428C>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3912C>A	9.37:g.134351428C>A			Somatic	OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_uc010mzj.1_Silent_p.P887P|PRRC2B_uc004cao.4_Silent_p.P662P	p.P1304P	NM_013318	NP_037450	WXS	Illumina GAIIx	Phase_I	Q5JSZ5	PRC2B_HUMAN			14	3967	+			1304					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.3912C>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	8.060	0.767875	0.15983	.	.	ENSG00000130723	ENST00000451855	T	0.07327	3.2	5.66	-1.1	0.09872	.	.	.	.	.	T	0.10723	0.0262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	6	0.87932	D	0	.	2.0418	0.03552	0.204:0.4535:0.0994:0.2431	.	.	.	.	T	38	ENSP00000388579:P38T	ENSP00000388579:P38T	P	+	1	0	PRRC2B	133341249	0.000000	0.05858	0.990000	0.47175	0.990000	0.78478	-1.933000	0.01553	-0.169000	0.10834	0.655000	0.94253	CCC		0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				47	57	0	0	0	1	0	47	57					A	134351428	C	A	134351428	2	1	272	1	0	0	0	0	0	0	0	1	1320	610	22	4		4	BAT2L1	9	134351428	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		134351428	6862003	9	4764											
GFI1B	8328	broad.mit.edu	37	9	135865217	135865217	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:135865217G>T	ENST00000339463.3	+	10	1556	c.737G>T	c.(736-738)cGg>cTg	p.R246L	GFI1B_ENST00000534944.1_Missense_Mutation_p.R200L|GFI1B_ENST00000372124.1_Missense_Mutation_p.R200L|GFI1B_ENST00000450530.1_Missense_Mutation_p.R246L|GFI1B_ENST00000372123.1_Missense_Mutation_p.R200L|GFI1B_ENST00000372122.1_Missense_Mutation_p.R246L			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	246	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCAGACACGCGGCCCTACCCC	0.612																																						uc004ccg.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(736-738)cGg>cTg		Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.							80	63	69					9																	135865217		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135865217G>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.737G>T	9.37:g.135865217G>T	ENSP00000344782:p.Arg246Leu		Somatic				GFI1B_uc010mzy.3_Missense_Mutation_p.R200L	p.R246L	NM_004188	NP_004179	WXS	Illumina GAIIx	Phase_I	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	5	1092	+			246			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.737G>T	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098361	0.94197	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.29917	1.55;2.38;2.38;1.55;1.55;2.38	4.67	4.67	0.58626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.52917	0.1764	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.57106	-0.7868	10	0.87932	D	0	-35.7585	16.9334	0.86197	0.0:0.0:1.0:0.0	.	200;246	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	L	200;246;246;200;200;246	ENSP00000361197:R200L;ENSP00000344782:R246L;ENSP00000409546:R246L;ENSP00000446134:R200L;ENSP00000361196:R200L;ENSP00000361195:R246L	ENSP00000344782:R246L	R	+	2	0	GFI1B	134855038	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.585000	0.98223	2.294000	0.77228	0.491000	0.48974	CGG		0.612	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		3	73	0	0	0	1	0	3	73					T	135865217	G	T	135865217	3	4	272	1	0	0	0	0	1	0	0	0	6340	1116	39	4	755	4	GFI1B	9	135865217	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	1513789	135865217	5348214	10	4765											
UBAC1	10422	broad.mit.edu	37	9	138830109	138830109	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:138830109G>A	ENST00000371756.3	-	9	1278	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	354	STI1.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGCACCACCGGGTTATCCAG	0.612																																					NSCLC(78;973 1398 27381 29552 42415)	uc004cgt.3																			0				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1060-1062)cCg>cTg		Homo sapiens UBA domain containing 1 (UBAC1), mRNA.							123	114	117					9																	138830109		2203	4300	6503	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138830109G>A	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.1061C>T	9.37:g.138830109G>A	ENSP00000360821:p.Pro354Leu		Somatic					p.P354L	NM_016172	NP_057256	WXS	Illumina GAIIx	Phase_I	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	8	1279	-		Myeloproliferative disorder(178;0.0511)	354			STI1.		O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.1061C>T	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843710	0.91197	.	.	ENSG00000130560	ENST00000371756	T	0.46819	0.86	4.8	4.8	0.61643	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68988	-0.5264	10	0.87932	D	0	-25.5345	16.8501	0.85991	0.0:0.0:1.0:0.0	.	354	Q9BSL1	UBAC1_HUMAN	L	354	ENSP00000360821:P354L	ENSP00000360821:P354L	P	-	2	0	UBAC1	137969930	1.000000	0.71417	0.928000	0.36995	0.971000	0.66376	9.426000	0.97469	2.201000	0.70794	0.561000	0.74099	CCG		0.612	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		4	127	0	0	0	1	0	4	127					A	138830109	G	A	138830109	3	1	272	1	0	0	0	0	1	0	0	0	16831	1116	39	1	164	1	UBAC1	9	138830109	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	2964892	138830109	2383322	11	4766											
GTPBP4	23560	broad.mit.edu	37	10	1060250	1060250	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr10:1060250G>A	ENST00000360803.4	+	15	1688	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	GTPBP4_ENST00000538293.1_Missense_Mutation_p.D420N|GTPBP4_ENST00000545048.1_Missense_Mutation_p.D489N	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	536					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D536N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGATAAAGACGATGTGAGTGT	0.443																																						uc001ift.3																			1	Substitution - Missense(1)	p.D536N(2)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(1606-1608)Gat>Aat		Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.							193	152	166					10																	1060250		2203	4300	6503	SO:0001583	missense	23560				negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1060250G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1606G>A	10.37:g.1060250G>A	ENSP00000354040:p.Asp536Asn		Somatic				GTPBP4_uc010qad.2_Missense_Mutation_p.D420N|GTPBP4_uc010qae.2_Missense_Mutation_p.D489N	p.D536N	NM_012341	NP_036473	WXS	Illumina GAIIx	Phase_I	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	14	1677	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	536					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1606G>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090454	0.07053	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.32023	1.47;1.47;1.47	5.27	-1.59	0.08453	.	0.403858	0.30676	N	0.009102	T	0.12135	0.0295	N	0.13198	0.31	0.32222	N	0.575119	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.07990	T	0.79	-21.0744	7.6101	0.28124	0.2745:0.142:0.5834:0.0	.	536	Q9BZE4	NOG1_HUMAN	N	536;420;489	ENSP00000354040:D536N;ENSP00000444277:D420N;ENSP00000445473:D489N	ENSP00000354040:D536N	D	+	1	0	GTPBP4	1050250	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	1.733000	0.38156	-0.134000	0.11516	-0.143000	0.13931	GAT		0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		51	73	0	0	0	1	0	51	73					A	1060250	G	A	1060250	3	1	272	1	0	0	0	0	1	0	0	0	6882	1058	37	1	1664	1	GTPBP4	10	1060250	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		1060250	134474497	12	4767											
ZNF408	79797	broad.mit.edu	37	11	46727180	46727180	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:46727180G>T	ENST00000311764.2	+	5	2160	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTTCTGCTGCTTCTGAGCC	0.637																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	uc001nde.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1930-1932)Gct>Tct		Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.							46	41	42					11																	46727180		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46727180G>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1930G>T	11.37:g.46727180G>T	ENSP00000309606:p.Ala644Ser		Somatic				ZNF408_uc010rgw.2_Missense_Mutation_p.A636S	p.A644S	NM_024741	NP_079017	WXS	Illumina GAIIx	Phase_I	Q9H9D4	ZN408_HUMAN			4	2211	+			644						Missense_Mutation	SNP	ENST00000311764.2	37	c.1930G>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689763	0.48097	.	.	ENSG00000175213	ENST00000311764	T	0.10477	2.87	4.23	-0.267	0.12938	.	0.556654	0.15031	N	0.284422	T	0.05547	0.0146	L	0.27053	0.805	0.09310	N	1	B;B	0.22480	0.07;0.015	B;B	0.15870	0.014;0.006	T	0.33548	-0.9864	10	0.48119	T	0.1	-0.8622	0.7228	0.00943	0.1923:0.159:0.3225:0.3262	.	636;644	B4DXY4;Q9H9D4	.;ZN408_HUMAN	S	644	ENSP00000309606:A644S	ENSP00000309606:A644S	A	+	1	0	ZNF408	46683756	.	.	0.019000	0.16419	0.901000	0.52897	.	.	0.149000	0.19098	0.557000	0.71058	GCT		0.637	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		4	96	0	0	0	1	0	4	96					T	46727180	G	T	46727180	3	4	272	1	0	0	0	0	1	0	0	0	17885	1319	46	4	1980	4	ZNF408	11	46727180	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		46727180	88279336	13	4768											
RNF214	257160	broad.mit.edu	37	11	117152830	117152830	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:117152830G>A	ENST00000531452.1	+	11	1602	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	RNF214_ENST00000530849.1_Missense_Mutation_p.S364N|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.S519N|RNF214_ENST00000531287.1_Missense_Mutation_p.S364N	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	519	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCCCTTGTCAGCCCCCACGGT	0.637																																						uc001pqt.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1555-1557)aGc>aAc		Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.							109	115	113					11																	117152830		1919	4121	6040	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152830G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1556G>A	11.37:g.117152830G>A	ENSP00000431643:p.Ser519Asn		Somatic				RNF214_uc001pqu.3_Missense_Mutation_p.S519N|RNF214_uc010rxf.2_Missense_Mutation_p.S364N	p.S519N	NM_207343	NP_997226	WXS	Illumina GAIIx	Phase_I	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	10	1601	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	519			Pro-rich.		B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1556G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250967	0.39797	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.38722	2.56;1.12;2.56;1.12	5.49	5.49	0.81192	.	0.122494	0.53938	D	0.000050	T	0.32010	0.0815	N	0.22421	0.69	0.33590	D	0.600979	B;B	0.22146	0.065;0.007	B;B	0.24848	0.056;0.016	T	0.34229	-0.9837	10	0.23302	T	0.38	-0.3402	16.5247	0.84327	0.0:0.0:1.0:0.0	.	364;519	B4DTD1;Q8ND24	.;RN214_HUMAN	N	364;519;364;519;71	ENSP00000435361:S364N;ENSP00000431643:S519N;ENSP00000432903:S364N;ENSP00000300650:S519N	ENSP00000300650:S519N	S	+	2	0	RNF214	116658040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.688000	0.61715	2.573000	0.86826	0.561000	0.74099	AGC		0.637	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		6	343	0	0	0	1	0	6	343					A	117152830	G	A	117152830	3	1	272	1	0	0	0	0	1	0	0	0	13478	971	34	2	1594	2	RNF214	11	117152830	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08	70425650	117152830	17853686	14	4769											
COQ10A	93058	broad.mit.edu	37	12	56664037	56664037	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr12:56664037C>T	ENST00000308197.5	+	5	941	c.680C>T	c.(679-681)aCc>aTc	p.T227I	COQ10A_ENST00000546544.1_Missense_Mutation_p.T210I|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000433805.2_Missense_Mutation_p.T195I	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	227						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CGGGCAGCCACCAAGTTTGGT	0.527																																						uc001sko.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						c.(679-681)aCc>aTc		Homo sapiens coenzyme Q10 homolog A (S. cerevisiae) (COQ10A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							130	129	129					12																	56664037		1998	4169	6167	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56664037C>T	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.680C>T	12.37:g.56664037C>T	ENSP00000312587:p.Thr227Ile		Somatic				COQ10A_uc001skp.4_Missense_Mutation_p.T195I|COQ10A_uc001skq.4_Missense_Mutation_p.T210I	p.T227I	NM_144576	NP_653177	WXS	Illumina GAIIx	Phase_I	Q96MF6	CQ10A_HUMAN			4	941	+			227					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.680C>T	CCDS41796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.396|9.396	1.076642|1.076642	0.20227|0.20227	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000553234;ENST00000551814|ENST00000308197;ENST00000433805;ENST00000546544	.|T;T;T	.|0.23147	.|1.92;1.93;1.92	4.85|4.85	3.94|3.94	0.45596|0.45596	.|START-like domain (1);	.|0.048448	.|0.85682	.|D	.|0.000000	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.12182|0.12182	0.205|0.205	0.38688|0.38688	D|D	0.9527|0.9527	.|B;B;B	.|0.16396	.|0.01;0.017;0.017	.|B;B;B	.|0.21917	.|0.037;0.029;0.029	T|T	0.07424|0.07424	-1.0773|-1.0773	5|10	.|0.66056	.|D	.|0.02	.|.	11.0871|11.0871	0.48093|0.48093	0.4545:0.5454:0.0:0.0|0.4545:0.5454:0.0:0.0	.|.	.|210;232;227	.|Q96MF6-2;Q8TAL2;Q96MF6	.|.;.;CQ10A_HUMAN	S|I	133;44|227;195;210	.|ENSP00000312587:T227I;ENSP00000407843:T195I;ENSP00000446723:T210I	.|ENSP00000312587:T227I	P|T	+|+	1|2	0|0	COQ10A|COQ10A	54950304|54950304	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.105000|0.105000	0.19272|0.19272	5.116000|5.116000	0.64661|0.64661	1.380000|1.380000	0.46344|0.46344	-0.181000|-0.181000	0.13052|0.13052	CCA|ACC		0.527	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		7	179	0	0	0	1	0	7	179					T	56664037	C	T	56664037	3	4	272	1	0	0	0	0	1	0	0	0	3743	507	18	2	740	2	COQ10A	12	56664037	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		56664037	77187858	15	4770											
CP110	9738	broad.mit.edu	37	16	19562584	19562584	+	3'UTR	SNP	A	A	G			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:19562584A>G	ENST00000381396.5	+	0	3300				CCP110_ENST00000396208.2_Silent_p.S989S|CCP110_ENST00000396212.2_Silent_p.S989S	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa						cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GACAACATTCATTAGGATAAA	0.368																																						uc002dgk.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(2965-2967)tcA>tcG		Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 2, mRNA.							113	122	119					16																	19562584		2197	4300	6497	SO:0001624	3_prime_UTR_variant	9738				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19562584A>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.*14A>G	16.37:g.19562584A>G			Somatic				CCP110_uc002dgl.4_3'UTR	p.S989S	NM_014711	NP_055526	WXS	Illumina GAIIx	Phase_I	O43303	CP110_HUMAN			14	3357	+			0					B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.2967A>G	CCDS55992.1																																																																																				0.368	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		4	183	0	0	0	1	0	4	183					G	19562584	A	G	19562584	1	3	272	0	1	0	0	0	0	0	0	0	3788	204	8	3		3	CP110	16	19562584	3'UTR	SNP	A	TCGA-EM-A3AQ-01A-11D-A20C-08		19562584	70792169	16	4771											
GCSH	2653	broad.mit.edu	37	16	81129777	81129777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:81129777delC	ENST00000315467.3	-	1	231	c.107delG	c.(106-108)ggcfs	p.G36fs	GCSH_ENST00000566566.1_Frame_Shift_Del_p.G36fs	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	36					glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	ACGGACGGCGCCCACCCCCAG	0.781																																						uc002fgd.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5						c.(106-108)ggcfs		Homo sapiens glycine cleavage system protein H (aminomethyl carrier) (GCSH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glycine(DB00145)						2	2	2					16																	81129777		1367	2776	4143	SO:0001589	frameshift_variant	2653					glycine cleavage complex|mitochondrion	aminomethyltransferase activity	g.chr16:81129777delC	M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"lipoic acid-containing protein"	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.107delG	16.37:g.81129777delC	ENSP00000319531:p.Gly36fs		Somatic				GCSH_uc002fge.3_Non-coding_Transcript	p.G36fs	NM_004483	NP_004474	WXS	Illumina GAIIx	Phase_I	P23434	GCSH_HUMAN			0	204	-			36					Q9H1E9	Frame_Shift_Del	DEL	ENST00000315467.3	37	c.107delG	CCDS10933.1																																																																																				0.781	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269049.1	NM_004483		2	4						2	4	---	---	---	---	-	81129777	C	-	81129777	7	5	272	1	0	1	0	1	0	0	0	0	6305	739	26	0	434	0	GCSH	16	81129777	Frame_Shift_Del	DEL	C	TCGA-EM-A3AQ-01A-11D-A20C-08	61567193	81129777	9224976	17	4772											
FOXC2	2303	broad.mit.edu	37	16	86601995	86601995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:86601995delC	ENST00000320354.4	+	1	1139	c.1054delC	c.(1054-1056)cccfs	p.P352fs	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	352					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GTGCGTCCCGCCCGCCCTGGA	0.771									Late-onset Hereditary Lymphedema																													uc002fjq.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(1054-1056)cccfs		Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.							2	3	2					16																	86601995		1336	2700	4036	SO:0001589	frameshift_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601995delC	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1054delC	16.37:g.86601995delC	ENSP00000326371:p.Pro352fs		Somatic					p.P352fs	NM_005251	NP_005242	WXS	Illumina GAIIx	Phase_I	Q99958	FOXC2_HUMAN			0	1139	+			352					C6KMR9|Q14DA6	Frame_Shift_Del	DEL	ENST00000320354.4	37	c.1054delC	CCDS10958.1																																																																																				0.771	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		2	4						2	4	---	---	---	---	-	86601995	C	-	86601995	7	5	272	1	0	1	0	1	0	0	0	0	5995	739	26	0	1056	0	FOXC2	16	86601995	Frame_Shift_Del	DEL	C	TCGA-EM-A3AQ-01A-11D-A20C-08	5472218	86601995	3752758	18	4773											
SMCR7	125170	broad.mit.edu	37	17	18167971	18167971	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr17:18167971C>A	ENST00000323019.4	+	4	1469	c.1258C>A	c.(1258-1260)Cac>Aac	p.H420N	MIEF2_ENST00000395706.2_Missense_Mutation_p.H431N|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	420					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CCTGCCCTGCCACTTCAACCC	0.622																																						uc010vxq.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1291-1293)Cac>Aac		Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							45	44	44					17																	18167971		2203	4298	6501	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167971C>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"Smith-Magenis syndrome chromosome region, candidate 7"	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1258C>A	17.37:g.18167971C>A	ENSP00000323591:p.His420Asn		Somatic				SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.H420N	p.H431N	NM_148886	NP_631901	WXS	Illumina GAIIx	Phase_I	Q96C03	SMCR7_HUMAN			3	1317	+	all_neural(463;0.228)		420					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.1291C>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156227	0.38021	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.07800	3.16;3.16	5.45	4.4	0.53042	.	0.229716	0.47093	D	0.000256	T	0.07773	0.0195	L	0.44542	1.39	0.36324	D	0.858432	P	0.39717	0.684	B	0.40329	0.326	T	0.09662	-1.0664	10	0.56958	D	0.05	-28.2857	3.5538	0.07857	0.0:0.6394:0.0:0.3606	.	420	Q96C03	MID49_HUMAN	N	420;431	ENSP00000323591:H420N;ENSP00000379057:H431N	ENSP00000323591:H420N	H	+	1	0	SMCR7	18108696	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.041000	0.41213	2.565000	0.86533	0.462000	0.41574	CAC		0.622	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		4	64	0	0	0	1	0	4	64					A	18167971	C	A	18167971	3	1	272	1	0	0	0	0	1	0	0	0	14790	594	21	4	1305	4	SMCR7	17	18167971	Missense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		18167971	63027239	19	4774											
GATA6	2627	broad.mit.edu	37	18	19780673	19780673	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr18:19780673G>C	ENST00000269216.3	+	7	1952	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Missense_Mutation_p.E559Q	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	559					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CGAGAACAGCGAGCTCAAGTA	0.627																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1675-1677)Gag>Cag		Homo sapiens GATA binding protein 6 (GATA6), mRNA.							96	83	88					18																	19780673		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780673G>C	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1675G>C	18.37:g.19780673G>C	ENSP00000269216:p.Glu559Gln		Somatic				GATA6_uc002ktu.1_Missense_Mutation_p.E559Q	p.E559Q	NM_005257	NP_005248	WXS	Illumina GAIIx	Phase_I	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		6	1940	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		559					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1675G>C	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565994	0.45694	.	.	ENSG00000141448	ENST00000269216	D	0.97941	-4.62	5.91	5.04	0.67666	.	0.800077	0.10981	N	0.612649	D	0.92293	0.7555	N	0.14661	0.345	0.23056	N	0.998367	B	0.25521	0.128	B	0.21546	0.035	D	0.84824	0.0798	10	0.21540	T	0.41	-8.5635	4.5481	0.12090	0.2279:0.0:0.6106:0.1615	.	559	Q92908	GATA6_HUMAN	Q	559	ENSP00000269216:E559Q	ENSP00000269216:E559Q	E	+	1	0	GATA6	18034671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.353000	0.52247	1.508000	0.48769	0.655000	0.94253	GAG		0.627	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		7	136	0	0	0	1	0	7	136					C	19780673	G	C	19780673	3	2	272	1	0	0	0	0	1	0	0	0	6258	1059	37	4	1697	4	GATA6	18	19780673	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		19780673	58296575	20	4775											
ANKRD24	170961	broad.mit.edu	37	19	4219657	4219657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr19:4219657C>T	ENST00000600132.1	+	19	3349	c.3073C>T	c.(3073-3075)Cag>Tag	p.Q1025*	ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.Q1025*|ANKRD24_ENST00000262970.5_Nonsense_Mutation_p.Q1115*	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1025										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CACAGCAGAGCAGCAGCTACG	0.657																																						uc010dtt.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3073-3075)Cag>Tag		Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.							51	62	58					19																	4219657		2172	4276	6448	SO:0001587	stop_gained	170961							g.chr19:4219657C>T	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3073C>T	19.37:g.4219657C>T	ENSP00000471252:p.Gln1025*		Somatic					p.Q1025*	NM_133475	NP_597732	WXS	Illumina GAIIx	Phase_I	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	3349	+			1025					O75268|O95781	Nonsense_Mutation	SNP	ENST00000600132.1	37	c.3073C>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	40	8.445180	0.98815	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	11.8657	0.52493	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1115	.	ENSP00000262970:Q1115X	Q	+	1	0	ANKRD24	4170657	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.288000	0.33296	2.080000	0.62538	0.313000	0.20887	CAG		0.657	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		49	81	0	0	0	1	0	49	81					T	4219657	C	T	4219657	4	4	272	1	0	0	0	0	0	1	0	0	653	711	25	2	3143	2	ANKRD24	19	4219657	Nonsense_Mutation	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		4219657	54909326	21	4776											
PARD6B	84612	broad.mit.edu	37	20	49366676	49366676	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr20:49366676G>A	ENST00000371610.2	+	3	1013	c.770G>A	c.(769-771)aGg>aAg	p.R257K	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	257					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AATGTTGTGAGGAACAGTCGG	0.473																																						uc002xvo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(769-771)aGg>aAg		Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.							137	132	134					20																	49366676		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366676G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.770G>A	20.37:g.49366676G>A	ENSP00000360672:p.Arg257Lys		Somatic					p.R257K	NM_032521	NP_115910	WXS	Illumina GAIIx	Phase_I	Q9BYG5	PAR6B_HUMAN			2	1013	+			257					A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.770G>A	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261810	0.80358	.	.	ENSG00000124171	ENST00000371610	T	0.17213	2.29	6.02	6.02	0.97574	.	0.046020	0.85682	D	0.000000	T	0.28433	0.0703	M	0.80982	2.52	0.80722	D	1	B	0.33299	0.407	B	0.32393	0.145	T	0.03008	-1.1083	10	0.38643	T	0.18	-16.5901	20.5407	0.99260	0.0:0.0:1.0:0.0	.	257	Q9BYG5	PAR6B_HUMAN	K	257	ENSP00000360672:R257K	ENSP00000360672:R257K	R	+	2	0	PARD6B	48800083	1.000000	0.71417	0.270000	0.24601	0.831000	0.47069	9.383000	0.97214	2.865000	0.98341	0.655000	0.94253	AGG		0.473	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		4	209	0	0	0	1	0	4	209					A	49366676	G	A	49366676	3	1	272	1	0	0	0	0	1	0	0	0	11446	1000	35	2	780	2	PARD6B	20	49366676	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		49366676	13658844	22	4777											
TUBA8	51807	broad.mit.edu	37	22	18604302	18604302	+	Silent	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr22:18604302C>T	ENST00000330423.3	+	2	133	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	20					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCAATGCCTGCTGGGAGCTCT	0.562																																						uc002znw.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(130-132)tgC>tgT		Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.							85	76	79					22																	18604302		2203	4300	6503	SO:0001819	synonymous_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18604302C>T	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.60C>T	22.37:g.18604302C>T			Somatic				TUBA8_uc002znv.2_Silent_p.C20C|TUBA8_uc021wkt.1_5'UTR	p.C44C	NM_001193414	NP_001180343	WXS	Illumina GAIIx	Phase_I	Q9NY65	TBA8_HUMAN			0	429	+			20					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Silent	SNP	ENST00000330423.3	37	c.132C>T	CCDS13751.1																																																																																				0.562	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		52	64	0	0	0	1	0	52	64					T	18604302	C	T	18604302	2	4	272	1	0	0	0	0	0	0	0	1	16747	805	28	2		2	TUBA8	22	18604302	Silent	SNP	C	TCGA-EM-A3AQ-01A-11D-A20C-08		18604302	32700264	23	4778											
BEX1	55859	broad.mit.edu	37	X	102317829	102317829	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chrX:102317829G>A	ENST00000372728.3	-	3	613	c.374C>T	c.(373-375)cCc>cTc	p.P125L		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	125					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CAGGATTCAGGGCATAAGGCA	0.463																																						uc004ejt.1																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(373-375)cCc>cTc		Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.							147	123	131					X																	102317829		2203	4300	6503	SO:0001583	missense	55859				cell differentiation|nervous system development	cytoplasm|nucleus		g.chrX:102317829G>A		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.374C>T	X.37:g.102317829G>A	ENSP00000361813:p.Pro125Leu		Somatic				BEX1_uc022cbj.1_Missense_Mutation_p.P125L	p.P125L	NM_018476	NP_060946	WXS	Illumina GAIIx	Phase_I	Q9HBH7	BEX1_HUMAN			2	614	-			125					A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	c.374C>T	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386208	0.61956	.	.	ENSG00000133169	ENST00000372728	T	0.36520	1.25	3.25	3.25	0.37280	.	0.000000	0.45606	D	0.000341	T	0.40719	0.1128	N	0.19112	0.55	0.43149	D	0.99491	D	0.89917	1.0	D	0.85130	0.997	T	0.38887	-0.9640	10	0.87932	D	0	.	9.0912	0.36612	0.0:0.0:1.0:0.0	.	125	Q9HBH7	BEX1_HUMAN	L	125	ENSP00000361813:P125L	ENSP00000361813:P125L	P	-	2	0	BEX1	102204485	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.152000	0.50677	1.882000	0.54519	0.600000	0.82982	CCC		0.463	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		5	110	0	0	0	1	0	5	110					A	102317829	G	A	102317829	3	1	272	1	0	0	0	0	1	0	0	0	1410	1232	43	2	7	2	BEX1	23	102317829	Missense_Mutation	SNP	G	TCGA-EM-A3AQ-01A-11D-A20C-08		102317829	52952731	24	4779											
ABCG8	64241	broad.mit.edu	37	2	44099167	44099167	+	Silent	SNP	G	G	A	rs375807484		TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:44099167G>A	ENST00000272286.2	+	7	1107	c.1017G>A	c.(1015-1017)agG>agA	p.R339R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	339					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGCCACCAGGGAGAAGGCTC	0.547																																						uc002rtq.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1015-1017)agG>agA		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.		G		0,4406		0,0,2203	98	94	95		1017	3.0	1.0	2		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCG8	NM_022437.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		339/674	44099167	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44099167G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1017G>A	2.37:g.44099167G>A			Somatic				ABCG8_uc010yoa.2_Silent_p.R339R	p.R339R	NM_022437	NP_071882	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			6	1107	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	339					Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1017G>A	CCDS1815.1																																																																																				0.547	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		11	93	0	0	0	1	0	11	93					A	44099167	G	A	44099167	2	1	273	1	0	0	0	0	0	0	0	1	72	1223	43	2		2	ABCG8	2	44099167	Silent	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		44099167	199100206	1	4780											
KCNIP3	30818	broad.mit.edu	37	2	96047380	96047380	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:96047380A>G	ENST00000295225.5	+	6	619	c.484A>G	c.(484-486)Aca>Gca	p.T162A	KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Missense_Mutation_p.T136A|KCNIP3_ENST00000360990.3_Missense_Mutation_p.T140A	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	162	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		GCTGCGGGGCACAGTCCACGA	0.542																																						uc002sup.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(484-486)Aca>Gca		Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.							153	140	144					2																	96047380		2203	4300	6503	SO:0001583	missense	30818				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96047380A>G	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.484A>G	2.37:g.96047380A>G	ENSP00000295225:p.Thr162Ala		Somatic				KCNIP3_uc002suq.3_Missense_Mutation_p.T136A	p.T162A	NM_013434	NP_038462	WXS	Illumina GAIIx	Phase_I	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	5	599	+			162			EF-hand 3.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	c.484A>G	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469634	0.63625	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;T;T	0.67865	-0.29;1.03;-0.29	5.39	5.39	0.77823	EF-hand-like domain (1);	0.056697	0.64402	D	0.000001	T	0.76856	0.4046	M	0.82923	2.615	0.41933	D	0.990579	B;B	0.30361	0.277;0.182	B;B	0.43478	0.421;0.24	T	0.79531	-0.1765	10	0.87932	D	0	.	13.3585	0.60642	1.0:0.0:0.0:0.0	.	136;162	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	A	162;140;136	ENSP00000295225:T162A;ENSP00000354261:T140A;ENSP00000417499:T136A	ENSP00000295225:T162A	T	+	1	0	KCNIP3	95411107	1.000000	0.71417	0.949000	0.38748	0.889000	0.51656	4.420000	0.59841	2.051000	0.60960	0.379000	0.24179	ACA		0.542	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		9	81	0	0	0	1	0	9	81					G	96047380	A	G	96047380	3	3	273	1	0	0	0	0	1	0	0	0	8041	159	6	3	613	3	KCNIP3	2	96047380	Missense_Mutation	SNP	A	TCGA-EM-A3AR-01A-12D-A20C-08	51948213	96047380	147151993	2	4781											
TTN	7273	broad.mit.edu	37	2	179412318	179412318	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr2:179412318T>C	ENST00000591111.1	-	289	89336	c.89112A>G	c.(89110-89112)atA>atG	p.I29704M	TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I22405M|TTN_ENST00000460472.2_Missense_Mutation_p.I22280M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I31345M|TTN_ENST00000342992.6_Missense_Mutation_p.I28777M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22472M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29704	Fibronectin type-III 116. {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)			GCTTTTCAACTATGTAATTAG	0.443																																						uc021vsy.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.(86329-86331)atA>atG		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							109	110	109					2																	179412318		1928	4136	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412318T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89112A>G	2.37:g.179412318T>C	ENSP00000465570:p.Ile29704Met		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I22472M|TTN_uc021vta.1_Missense_Mutation_p.I22405M|TTN_uc021vtb.1_Missense_Mutation_p.I22280M	p.I28777M	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		287	86556	-			29704					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.86331A>G		.	.	.	.	.	.	.	.	.	.	T	12.73	2.024486	0.35701	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.92	0.211	0.15236	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70386	0.3218	M	0.87328	2.875	0.47183	D	0.999342	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	0.69273	-0.5188	9	0.87932	D	0	.	7.2934	0.26378	0.286:0.0:0.4249:0.2891	.	22280;22405;22472;29704	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	28777;22280;22472;22405;22277	ENSP00000343764:I28777M;ENSP00000434586:I22280M;ENSP00000340554:I22472M;ENSP00000352154:I22405M	ENSP00000340554:I22472M	I	-	3	3	TTN	179120564	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.461000	0.21940	0.085000	0.17107	0.533000	0.62120	ATA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	87	0	0	0	1	0	3	87					C	179412318	T	C	179412318	3	2	273	1	0	0	0	0	1	0	0	0	16732	1512	53	3	14040	3	TTN	2	179412318	Missense_Mutation	SNP	T	TCGA-EM-A3AR-01A-12D-A20C-08	83364938	179412318	63787055	3	4782											
ZMIZ2	83637	broad.mit.edu	37	7	44797683	44797683	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr7:44797683G>C	ENST00000309315.4	+	6	912	c.789G>C	c.(787-789)caG>caC	p.Q263H	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Q263H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Q231H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Q263H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Q231H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	263	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCCGACAGGGGGTCAAGA	0.612																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(787-789)caG>caC		Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.							53	55	54					7																	44797683		1859	4094	5953	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44797683G>C	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.789G>C	7.37:g.44797683G>C	ENSP00000311778:p.Gln263His		Somatic				ZMIZ2_uc003tlq.3_Missense_Mutation_p.Q231H|ZMIZ2_uc003tls.3_Missense_Mutation_p.Q263H|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	p.Q263H	NM_031449	NP_113637	WXS	Illumina GAIIx	Phase_I	Q8NF64	ZMIZ2_HUMAN			5	912	+			263			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.789G>C	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344995	0.61073	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.52	-0.844	0.10741	.	0.000000	0.50627	D	0.000106	T	0.48409	0.1498	M	0.74881	2.28	0.45806	D	0.998685	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.74023	0.967;0.982;0.967	T	0.47699	-0.9097	10	0.66056	D	0.02	-8.2212	9.6366	0.39811	0.594:0.0:0.406:0.0	.	263;263;231	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	H	231;263;263;231;263;263	ENSP00000409648:Q231H;ENSP00000311778:Q263H;ENSP00000414723:Q263H;ENSP00000396601:Q231H;ENSP00000265346:Q263H	ENSP00000265346:Q263H	Q	+	3	2	ZMIZ2	44764208	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	1.306000	0.33505	-0.061000	0.13110	0.462000	0.41574	CAG		0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		18	91	0	0	0	1	0	18	91					C	44797683	G	C	44797683	3	2	273	1	0	0	0	0	1	0	0	0	17694	991	35	4	807	4	ZMIZ2	7	44797683	Missense_Mutation	SNP	G	TCGA-EM-A3AR-01A-12D-A20C-08		44797683	114340980	4	4783											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	64	0	0	0	1	0	8	64					T	140453136	A	T	140453136	3	4	273	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3AR-01A-12D-A20C-08	95655453	140453136	18685527	5	4784											
COL27A1	85301	broad.mit.edu	37	9	116930153	116930153	+	Silent	SNP	C	C	T			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr9:116930153C>T	ENST00000356083.3	+	3	709	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	106	Laminin G-like.				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						GCCTCTGCTCCCACCGGGTGA	0.662																																						uc011lxl.2																			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.(316-318)tcC>tcT		Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.							64	66	65					9																	116930153		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930153C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.318C>T	9.37:g.116930153C>T			Somatic				COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_5'UTR	p.S106S	NM_032888	NP_116277	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			2	318	+			106			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.318C>T	CCDS6802.1																																																																																				0.662	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		24	129	0	0	0	1	0	24	129					T	116930153	C	T	116930153	2	4	273	1	0	0	0	0	0	0	0	1	3685	610	22	2		2	COL27A1	9	116930153	Silent	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		116930153	24283278	6	4785											
LRP1	4035	broad.mit.edu	37	12	57605751	57605751	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr12:57605751C>G	ENST00000243077.3	+	87	13766	c.13300C>G	c.(13300-13302)Ctg>Gtg	p.L4434V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4434					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)	GCTGCTGCTGCTGGTTCTGGT	0.547																																						uc001snd.3																			0				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						c.(13300-13302)Ctg>Gtg		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						167	144	152					12																	57605751		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605751C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13300C>G	12.37:g.57605751C>G	ENSP00000243077:p.Leu4434Val		Somatic					p.L4434V	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	86	13766	+			4434					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13300C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353405	0.24512	.	.	ENSG00000123384	ENST00000243077	T	0.49720	0.77	4.43	-1.01	0.10169	.	0.837651	0.09715	N	0.765158	T	0.30823	0.0777	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08432	-1.0722	10	0.24483	T	0.36	.	11.6529	0.51299	0.202:0.3947:0.4032:0.0	.	4434	Q07954	LRP1_HUMAN	V	4434	ENSP00000243077:L4434V	ENSP00000243077:L4434V	L	+	1	2	LRP1	55892018	0.770000	0.28543	0.949000	0.38748	0.629000	0.37895	-0.105000	0.10907	-0.792000	0.04480	-1.268000	0.01426	CTG		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	225	0	0	0	1	0	4	225					G	57605751	C	G	57605751	3	3	273	1	0	0	0	0	1	0	0	0	8951	796	28	4	13646	4	LRP1	12	57605751	Missense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		57605751	76246144	7	4786											
MYLK3	91807	broad.mit.edu	37	16	46764581	46764581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chr16:46764581C>A	ENST00000394809.4	-	5	1607	c.1492G>T	c.(1492-1494)Gaa>Taa	p.E498*	MYLK3_ENST00000536476.1_Nonsense_Mutation_p.E157*	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	498					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ACCCGGTGTTCAAAAGGAGCT	0.597																																						uc002eei.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(1492-1494)Gaa>Taa		Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.							135	120	125					16																	46764581		2203	4300	6503	SO:0001587	stop_gained	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46764581C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1492G>T	16.37:g.46764581C>A	ENSP00000378288:p.Glu498*		Somatic				MYLK3_uc010vge.2_Nonsense_Mutation_p.E157*|MYLK3_uc002eej.1_Nonsense_Mutation_p.E157*	p.E498*	NM_182493	NP_872299	WXS	Illumina GAIIx	Phase_I	Q32MK0	MYLK3_HUMAN			4	1608	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	498					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Nonsense_Mutation	SNP	ENST00000394809.4	37	c.1492G>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	38	6.910757	0.97928	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	.	.	.	5.26	5.26	0.73747	.	0.000000	0.36703	N	0.002449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.1771	0.48606	0.0:0.914:0.0:0.086	.	.	.	.	X	498;157	.	ENSP00000378288:E498X	E	-	1	0	MYLK3	45322082	0.967000	0.33354	1.000000	0.80357	0.817000	0.46193	2.325000	0.43840	2.452000	0.82932	0.591000	0.81541	GAA		0.597	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		5	178	0	0	0	1	0	5	178					A	46764581	C	A	46764581	4	1	273	1	0	0	0	0	0	1	0	0	10058	835	29	4	1003	4	MYLK3	16	46764581	Nonsense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		46764581	43590172	8	4787											
PDZD11	51248	broad.mit.edu	37	X	69508002	69508002	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AR-01A-12D-A20C-08	TCGA-EM-A3AR-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26896f50-4aff-406e-91d5-d18ada7ae17a	92d7e25d-a9de-49e2-800c-0ab703ae1582	g.chrX:69508002C>T	ENST00000239666.4	-	4	325	c.193G>A	c.(193-195)Gga>Aga	p.G65R	PDZD11_ENST00000473667.1_5'UTR|KIF4A_ENST00000374403.3_5'Flank|KIF4A_ENST00000374388.3_5'Flank|PDZD11_ENST00000374454.1_Missense_Mutation_p.G65R	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	65	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GAGGCCTTTCCTCCTCGGATG	0.438																																						uc004dye.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						c.(289-291)Gga>Aga		Homo sapiens PDZ domain containing 11 (PDZD11), mRNA.							45	39	41					X																	69508002		2203	4300	6503	SO:0001583	missense	51248					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding	g.chrX:69508002C>T	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.193G>A	X.37:g.69508002C>T	ENSP00000239666:p.Gly65Arg		Somatic				KIF4A_uc004dyg.3_5'Flank|KIF4A_uc010nkw.3_5'Flank|PDZD11_uc004dyd.1_Missense_Mutation_p.G65R|KIF4A_uc004dyf.2_5'Flank	p.G97R	NM_016484	NP_057568	WXS	Illumina GAIIx	Phase_I	Q5EBL8	PDZ11_HUMAN			3	534	-			65			PDZ.		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	c.289G>A	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737115	0.89482	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.27104	1.69;1.69	5.14	5.14	0.70334	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	M	0.87456	2.885	0.80722	D	1	D;P	0.89917	1.0;0.878	D;P	0.97110	1.0;0.567	T	0.65928	-0.6049	10	0.87932	D	0	.	16.6597	0.85238	0.0:1.0:0.0:0.0	.	96;65	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	R	65	ENSP00000239666:G65R;ENSP00000363578:G65R	ENSP00000239666:G65R	G	-	1	0	PDZD11	69424727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.890000	0.75633	2.397000	0.81536	0.596000	0.82720	GGA		0.438	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		3	21	0	0	0	1	0	3	21					T	69508002	C	T	69508002	3	4	273	1	0	0	0	0	1	0	0	0	11700	690	24	2	245	2	PDZD11	23	69508002	Missense_Mutation	SNP	C	TCGA-EM-A3AR-01A-12D-A20C-08		69508002	85762558	9	4788											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	13	0	0	0	1	0	14	13					T	140453136	A	T	140453136	3	4	274	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FJ-01A-11D-A21A-08		140453136	18685527	1	4789											
CNOT2	4848	broad.mit.edu	37	12	70723333	70723333	+	Silent	SNP	G	G	T			TCGA-EM-A3FJ-01A-11D-A21A-08	TCGA-EM-A3FJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c70333f-3776-4588-8890-192dc5d8b2f0	f6afff5d-9375-44a5-b67e-b82c0a4a6310	g.chr12:70723333G>T	ENST00000418359.3	+	6	820	c.369G>T	c.(367-369)acG>acT	p.T123T	CNOT2_ENST00000229195.3_Silent_p.T123T|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	123					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CACTTCACACGCCTCCATCTC	0.398																																						uc001svv.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(367-369)acG>acT		Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.							128	118	122					12																	70723333		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding	g.chr12:70723333G>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.369G>T	12.37:g.70723333G>T			Somatic				CNOT2_uc009zro.3_Silent_p.T123T|CNOT2_uc009zrp.3_Silent_p.T103T|CNOT2_uc009zrq.3_Silent_p.T123T	p.T123T	NM_014515	NP_055330	WXS	Illumina GAIIx	Phase_I	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		4	951	+	Renal(347;0.236)		123					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.369G>T	CCDS31857.1																																																																																				0.398	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			3	47	0	0	0	1	0	3	47					T	70723333	G	T	70723333	2	4	274	1	0	0	0	0	0	0	0	1	3619	1074	38	4		4	CNOT2	12	70723333	Silent	SNP	G	TCGA-EM-A3FJ-01A-11D-A21A-08		70723333	63128562	2	4790											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	24	0	0	0	1	0	11	24					T	140453136	A	T	140453136	3	4	275	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FK-01A-11D-A21A-08		140453136	18685527	1	4791											
CAMSAP1	157922	broad.mit.edu	37	9	138713116	138713116	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr9:138713116G>A	ENST00000389532.4	-	11	3455	c.3391C>T	c.(3391-3393)Ccg>Tcg	p.P1131S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P853S|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1142S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1131					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)		CTCAAGTGCGGGAGCGTCTCT	0.647																																						uc004cgr.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.(3391-3393)Ccg>Tcg		Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.							48	61	57					9																	138713116		2202	4296	6498	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713116G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3391C>T	9.37:g.138713116G>A	ENSP00000374183:p.Pro1131Ser		Somatic				CAMSAP1_uc004cgq.4_Missense_Mutation_p.P1021S|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P853S	p.P1131S	NM_015447	NP_056262	WXS	Illumina GAIIx	Phase_I	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	3391	-			1131					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3391C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068944	0.55539	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.32753	1.46;1.44;1.45	5.29	3.39	0.38822	.	0.104870	0.64402	D	0.000002	T	0.54679	0.1873	M	0.81942	2.565	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.57510	-0.7799	10	0.87932	D	0	-3.4478	10.6908	0.45870	0.0722:0.1331:0.7947:0.0	.	1131;1142	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	S	1131;853;1142	ENSP00000374183:P1131S;ENSP00000312463:P853S;ENSP00000386420:P1142S	ENSP00000312463:P853S	P	-	1	0	CAMSAP1	137852937	1.000000	0.71417	0.109000	0.21407	0.864000	0.49448	4.095000	0.57728	0.677000	0.31305	0.561000	0.74099	CCG		0.647	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		3	46	0	0	0	1	0	3	46					A	138713116	G	A	138713116	3	1	275	1	0	0	0	0	1	0	0	0	2611	1232	43	2	1445	2	CAMSAP1	9	138713116	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08		138713116	2500315	2	4792											
LRP1	4035	broad.mit.edu	37	12	57563020	57563020	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr12:57563020C>G	ENST00000243077.3	+	20	3559	c.3093C>G	c.(3091-3093)caC>caG	p.H1031Q	LRP1_ENST00000553446.1_3'UTR	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1031	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	TCCCCGAGCACTGGACCTGCG	0.612																																						uc001snd.3																			0				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						c.(3091-3093)caC>caG		Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						75	63	67					12																	57563020		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57563020C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3093C>G	12.37:g.57563020C>G	ENSP00000243077:p.His1031Gln		Somatic				LRP1_uc009zpi.1_Non-coding_Transcript	p.H1031Q	NM_002332	NP_002323	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	19	3559	+			1031			LDL-receptor class A 7.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3093C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363456	0.41902	.	.	ENSG00000123384	ENST00000243077	D	0.95137	-3.62	4.8	3.91	0.45181	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.186012	0.35677	N	0.003049	D	0.88224	0.6379	N	0.25332	0.735	0.80722	D	1	B	0.24576	0.106	B	0.28709	0.093	T	0.81435	-0.0934	10	0.13853	T	0.58	.	9.1931	0.37211	0.0:0.8241:0.0:0.1759	.	1031	Q07954	LRP1_HUMAN	Q	1031	ENSP00000243077:H1031Q	ENSP00000243077:H1031Q	H	+	3	2	LRP1	55849287	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.051000	0.41307	1.259000	0.44117	0.561000	0.74099	CAC		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	46	0	0	0	1	0	3	46					G	57563020	C	G	57563020	3	3	275	1	0	0	0	0	1	0	0	0	8951	564	20	4	3171	4	LRP1	12	57563020	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08		57563020	76288875	3	4793											
CES8	283848	broad.mit.edu	37	16	67036990	67036990	+	Silent	SNP	C	C	G	rs574058890		TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr16:67036990C>G	ENST00000326686.5	+	6	708	c.708C>G	c.(706-708)gcC>gcG	p.A236A	CES4A_ENST00000535696.1_Silent_p.A142A|CES4A_ENST00000540947.2_Silent_p.A236A|CES4A_ENST00000540579.1_Silent_p.A138A|CES4A_ENST00000541479.1_Silent_p.A259A|CES4A_ENST00000338718.4_Silent_p.A259A|CES4A_ENST00000398354.1_Silent_p.A236A			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	236						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CACCCCTAGCCTCGGGTCTCT	0.552													C|||	1	0.000199681	0	0	5008	,	,		21160	0		0	False		,,,				2504	0.001					uc002eqv.3																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(775-777)gcC>gcG		Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.							110	108	109					16																	67036990		1970	4154	6124	SO:0001819	synonymous_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67036990C>G	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.708C>G	16.37:g.67036990C>G			Somatic				CES4A_uc010vix.2_Silent_p.A236A|CES4A_uc002eqw.3_Silent_p.A236A|CES4A_uc010viy.2_Silent_p.A142A|CES4A_uc002eqx.3_Silent_p.A42A|CES4A_uc002eqy.3_Silent_p.A138A	p.A259A	NM_001190201	NP_001177130	WXS	Illumina GAIIx	Phase_I	Q5XG92	EST4A_HUMAN			5	892	+			236					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37	c.777C>G																																																																																					0.552	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		27	51	0	0	0	1	0	27	51					G	67036990	C	G	67036990	2	3	275	1	0	0	0	0	0	0	0	1	3273	668	24	4		4	CES8	16	67036990	Silent	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08		67036990	23317763	4	4794											
PITPNA	5306	broad.mit.edu	37	17	1456343	1456343	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:1456343T>C	ENST00000313486.7	-	3	407	c.152A>G	c.(151-153)gAc>gGc	p.D51G	PITPNA_ENST00000539476.1_Missense_Mutation_p.D51G	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	51					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTTCTCACCGTCCTTCTCGTA	0.552																																						uc021tng.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(151-153)gAc>gGc		Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.							182	183	183					17																	1456343		2099	4226	6325	SO:0001583	missense	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1456343T>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"phosphotidylinositol transfer protein"	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.152A>G	17.37:g.1456343T>C	ENSP00000316809:p.Asp51Gly		Somatic				PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	p.D51G	NM_006224	NP_006215	WXS	Illumina GAIIx	Phase_I	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	2	408	-			51						Missense_Mutation	SNP	ENST00000313486.7	37	c.152A>G	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049206	0.55110	.	.	ENSG00000174238	ENST00000539476;ENST00000313486	T;T	0.44083	0.93;0.93	6.16	6.16	0.99307	START-like domain (1);	0.100169	0.64402	D	0.000002	T	0.44435	0.1293	L	0.39147	1.195	0.58432	D	0.999996	P	0.36959	0.575	P	0.45377	0.478	T	0.20009	-1.0288	10	0.22706	T	0.39	.	15.9872	0.80168	0.0:0.0:0.0:1.0	.	51	Q00169	PIPNA_HUMAN	G	51	ENSP00000441869:D51G;ENSP00000316809:D51G	ENSP00000316809:D51G	D	-	2	0	PITPNA	1403093	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.038000	0.88943	2.367000	0.80283	0.528000	0.53228	GAC		0.552	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			56	89	0	0	0	1	0	56	89					C	1456343	T	C	1456343	3	2	275	1	0	0	0	0	1	0	0	0	11947	1667	58	3	696	3	PITPNA	17	1456343	Missense_Mutation	SNP	T	TCGA-EM-A3FK-01A-11D-A21A-08		1456343	79738867	5	4795											
TRPV2	51393	broad.mit.edu	37	17	16338272	16338272	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr17:16338272C>A	ENST00000338560.7	+	14	2582	c.2183C>A	c.(2182-2184)gCa>gAa	p.A728E	TRPV2_ENST00000577397.1_Missense_Mutation_p.A298E	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	728					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)		CCGTCAGGGGCAGGTGTCCCT	0.627																																						uc002gpy.3																			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.(2182-2184)gCa>gAa		Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.							96	79	84					17																	16338272		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16338272C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2183C>A	17.37:g.16338272C>A	ENSP00000342222:p.Ala728Glu		Somatic				TRPV2_uc002gpz.3_Missense_Mutation_p.A298E	p.A728E	NM_016113	NP_057197	WXS	Illumina GAIIx	Phase_I	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2582	+			728					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2183C>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789307	0.31685	.	.	ENSG00000187688	ENST00000338560	D	0.87650	-2.28	4.98	1.52	0.23074	.	1.666260	0.04476	U	0.376888	T	0.71660	0.3366	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.60737	-0.7204	10	0.02654	T	1	-18.0312	7.8939	0.29695	0.3161:0.5299:0.1541:0.0	.	728	Q9Y5S1	TRPV2_HUMAN	E	728	ENSP00000342222:A728E	ENSP00000342222:A728E	A	+	2	0	TRPV2	16278997	0.000000	0.05858	0.003000	0.11579	0.551000	0.35334	0.098000	0.15189	0.555000	0.29079	0.655000	0.94253	GCA		0.627	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		12	27	0	0	0	1	0	12	27					A	16338272	C	A	16338272	3	1	275	1	0	0	0	0	1	0	0	0	16593	710	25	4	2233	4	TRPV2	17	16338272	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08	14881929	16338272	64856938	6	4796											
RHBDD3	25807	broad.mit.edu	37	22	29656429	29656429	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:29656429G>A	ENST00000216085.7	-	6	1293	c.869C>T	c.(868-870)gCg>gTg	p.A290V	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	290					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						ATCCAAGGCCGCCCACATCGG	0.672																																						uc003aeq.1																			0				lung(1)|ovary(1)	2						c.(868-870)gCg>gTg		Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.							18	19	19					22																	29656429		2203	4300	6503	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29656429G>A	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.869C>T	22.37:g.29656429G>A	ENSP00000216085:p.Ala290Val		Somatic					p.A290V	NM_012265	NP_036397	WXS	Illumina GAIIx	Phase_I	Q9Y3P4	RHBD3_HUMAN			5	1241	-			290					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.869C>T	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	8.524	0.869444	0.17322	.	.	ENSG00000100263	ENST00000216085	T	0.23552	1.9	5.08	-1.12	0.09808	.	0.680702	0.13579	N	0.377479	T	0.19685	0.0473	L	0.57536	1.79	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23368	-1.0190	10	0.46703	T	0.11	-6.7981	3.2562	0.06832	0.3304:0.0:0.3776:0.292	.	290	Q9Y3P4	RHBD3_HUMAN	V	290	ENSP00000216085:A290V	ENSP00000216085:A290V	A	-	2	0	RHBDD3	27986429	0.004000	0.15560	0.022000	0.16811	0.036000	0.12997	0.271000	0.18626	0.024000	0.15214	-0.833000	0.03075	GCG		0.672	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		2	2	0	0	0	1	0	2	2					A	29656429	G	A	29656429	3	1	275	1	0	0	0	0	1	0	0	0	13318	1087	38	1	299	1	RHBDD3	22	29656429	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08		29656429	21648137	7	4797											
MAPK8IP2	23542	broad.mit.edu	37	22	51044090	51044090	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chr22:51044090C>T	ENST00000399908.2	+	5	1860	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R370C|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R382C|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R647C|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R353C|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R268C	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	648	Necessary for interaction with FGF13.				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)		CTTCAACATGCGCACGGGGGA	0.652																																						uc003bmx.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1939-1941)Cgc>Tgc		Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.							37	47	43					22																	51044090		2137	4243	6380	SO:0001583	missense	23542				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding	g.chr22:51044090C>T	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1144C>T	22.37:g.51044090C>T	ENSP00000382792:p.Arg382Cys		Somatic				MAPK8IP2_uc003bmy.3_Missense_Mutation_p.R620C|MAPK8IP2_uc011asc.2_Missense_Mutation_p.R2C	p.R647C	NM_012324	NP_036456	WXS	Illumina GAIIx	Phase_I	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)	7	2056	+		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)	648			SH3.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1939C>T		.	.	.	.	.	.	.	.	.	.	C	13.85	2.361401	0.41801	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.32753	2.31;2.31;2.31;2.31;2.31;1.44	5.15	1.64	0.23874	Src homology-3 domain (4);	0.055887	0.64402	D	0.000003	T	0.52208	0.1720	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.966	T	0.58301	-0.7660	9	0.87932	D	0	-11.7161	11.9461	0.52928	0.572:0.428:0.0:0.0	.	620;648	E7EQG6;Q13387	.;JIP2_HUMAN	C	382;647;370;268;382;353	ENSP00000382796:R382C;ENSP00000330572:R647C;ENSP00000404914:R370C;ENSP00000340015:R268C;ENSP00000382792:R382C;ENSP00000008876:R353C	ENSP00000008876:R353C	R	+	1	0	MAPK8IP2	49390956	1.000000	0.71417	0.996000	0.52242	0.019000	0.09904	0.963000	0.29293	0.671000	0.31185	-0.175000	0.13238	CGC		0.652	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		4	21	0	0	0	1	0	4	21					T	51044090	C	T	51044090	3	4	275	1	0	0	0	0	1	0	0	0	9285	768	27	1	2057	1	MAPK8IP2	22	51044090	Missense_Mutation	SNP	C	TCGA-EM-A3FK-01A-11D-A21A-08	21387661	51044090	260476	8	4798											
SAGE1	55511	broad.mit.edu	37	X	134995047	134995047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:134995047delA	ENST00000370709.3	+	19	2706	c.2706delA	c.(2704-2706)agafs	p.R902fs	SAGE1_ENST00000535938.1_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000324447.3_Frame_Shift_Del_p.R902fs|SAGE1_ENST00000537770.1_Frame_Shift_Del_p.R526fs			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	902						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGCACATGAGAAAAAGATAAT	0.368																																						uc004ezh.3																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2704-2706)agafs		Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.							38	33	34					X																	134995047		2203	4300	6503	SO:0001589	frameshift_variant	55511							g.chrX:134995047delA	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2706delA	X.37:g.134995047delA	ENSP00000359743:p.Arg902fs		Somatic				SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Frame_Shift_Del_p.R526fs	p.R902fs	NM_018666	NP_061136	WXS	Illumina GAIIx	Phase_I	Q9NXZ1	SAGE1_HUMAN			19	2873	+	Acute lymphoblastic leukemia(192;0.000127)		902					Q5JNW0	Frame_Shift_Del	DEL	ENST00000370709.3	37	c.2706delA	CCDS14652.1																																																																																				0.368	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		2	4						2	4	---	---	---	---	-	134995047	A	-	134995047	7	5	275	1	0	1	0	1	0	0	0	0	13809	243	9	0	2780	0	SAGE1	23	134995047	Frame_Shift_Del	DEL	A	TCGA-EM-A3FK-01A-11D-A21A-08		134995047	20275513	9	4799											
BGN	633	broad.mit.edu	37	X	152770767	152770767	+	Missense_Mutation	SNP	G	G	A	rs150272427	byFrequency	TCGA-EM-A3FK-01A-11D-A21A-08	TCGA-EM-A3FK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5	23e0a545-3e41-486a-90d1-cc3d672e4a24	g.chrX:152770767G>A	ENST00000331595.4	+	3	496	c.310G>A	c.(310-312)Gag>Aag	p.E104K	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	104					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|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)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACATCTCCGAGCTCCGCAA	0.617													G|||	7	0.0018543	0.0053	0	3775	,	,		12578	0		0	False		,,,				2504	0					uc004fhr.2																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(310-312)Gag>Aag		Homo sapiens biglycan (BGN), mRNA.		G	LYS/GLU	25,3810		0,18,7,1614,564	85	71	76		310	5.1	0.9	X	dbSNP_134	76	1,6727		0,1,0,2427,1872	yes	missense	BGN	NM_001711.4	56	0,19,7,4041,2436	AA,AG,A,GG,G		0.0149,0.6519,0.2461	probably-damaging	104/369	152770767	26,10537	2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770767G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.310G>A	X.37:g.152770767G>A	ENSP00000327336:p.Glu104Lys		Somatic					p.E104K	NM_001711	NP_001702	WXS	Illumina GAIIx	Phase_I	P21810	PGS1_HUMAN			2	546	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		104					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.310G>A	CCDS14721.1	8	0.004822182037371911	5	0.0102880658436214	0	0.0	0	0.0	0	0.0	G	19.41	3.821752	0.71028	0.006519	1.49E-4	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;D;T	0.83506	0.4;-1.73;0.4	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	N	0.20357	0.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86040	0.1519	10	0.66056	D	0.02	-31.3051	16.494	0.84223	0.0:0.0:1.0:0.0	.	104	P21810	PGS1_HUMAN	K	104;104;43;43	ENSP00000327336:E104K;ENSP00000402525:E104K;ENSP00000359223:E43K	ENSP00000327336:E104K	E	+	1	0	BGN	152423961	1.000000	0.71417	0.915000	0.36163	0.098000	0.18820	7.569000	0.82380	2.237000	0.73441	0.529000	0.55759	GAG		0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		26	44	0	0	0	1	0	26	44					A	152770767	G	A	152770767	3	1	275	1	0	0	0	0	1	0	0	0	1418	1059	37	1	316	1	BGN	23	152770767	Missense_Mutation	SNP	G	TCGA-EM-A3FK-01A-11D-A21A-08	17775720	152770767	2499793	10	4800											
WNT4	54361	broad.mit.edu	37	1	22447975	22447975	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:22447975G>A	ENST00000290167.6	-	3	451	c.408C>T	c.(406-408)tgC>tgT	p.C136C	WNT4_ENST00000542383.1_Silent_p.C81C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	136					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGTCACAGCCGCACTTCTCCA	0.672																																						uc001bfs.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(406-408)tgC>tgT		Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.							74	71	72					1																	22447975		2203	4300	6503	SO:0001819	synonymous_variant	54361				Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22447975G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.408C>T	1.37:g.22447975G>A			Somatic				WNT4_uc010odt.2_Silent_p.C73C	p.C136C	NM_030761	NP_110388	WXS	Illumina GAIIx	Phase_I	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	2	512	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	136					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	c.408C>T	CCDS223.1																																																																																				0.672	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			4	121	0	0	0	1	0	4	121					A	22447975	G	A	22447975	2	1	276	1	0	0	0	0	0	0	0	1	17387	1079	38	1		1	WNT4	1	22447975	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		22447975	226802646	1	4801											
SLC44A3	126969	broad.mit.edu	37	1	95290099	95290099	+	Silent	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:95290099C>T	ENST00000271227.6	+	3	288	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SLC44A3_ENST00000529450.1_Silent_p.L62L|SLC44A3_ENST00000446120.2_Silent_p.L26L|SLC44A3_ENST00000532427.1_Silent_p.L14L|SLC44A3_ENST00000527077.1_Silent_p.L26L|SLC44A3_ENST00000467909.1_Silent_p.L14L	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	62					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAAGACTCCTCTTTGGCTATG	0.552																																						uc001dqv.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(184-186)ctC>ctT		Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	Choline(DB00122)						85	90	88					1																	95290099		2203	4300	6503	SO:0001819	synonymous_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95290099C>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.186C>T	1.37:g.95290099C>T			Somatic				SLC44A3_uc001dqx.4_Silent_p.L62L|SLC44A3_uc010otq.2_Silent_p.L26L|SLC44A3_uc010otr.2_Silent_p.L26L|SLC44A3_uc001dqw.4_Silent_p.L14L|SLC44A3_uc010ots.2_Silent_p.L14L|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Silent_p.L14L|SLC44A3_uc010otu.1_5'Flank	p.L62L	NM_001114106	NP_689582	WXS	Illumina GAIIx	Phase_I	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	2	293	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	62					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	ENST00000271227.6	37	c.186C>T	CCDS44176.1																																																																																				0.552	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		6	120	0	0	0	1	0	6	120					T	95290099	C	T	95290099	2	4	276	1	0	0	0	0	0	0	0	1	14637	900	32	2		2	SLC44A3	1	95290099	Silent	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	72842124	95290099	153960522	2	4802											
SLC5A6	8884	broad.mit.edu	37	2	27426733	27426733	+	Silent	SNP	G	G	A	rs59827696		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr2:27426733G>A	ENST00000310574.3	-	10	1481	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.F336F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	336					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGTACAGGACGAACTGCAAGC	0.592																																						uc002rjd.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(1006-1008)ttC>ttT		Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	Biotin(DB00121)|Lipoic Acid(DB00166)						48	46	46					2																	27426733		2203	4300	6503	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27426733G>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1008C>T	2.37:g.27426733G>A			Somatic				SLC5A6_uc010eyv.1_Silent_p.F336F	p.F336F	NM_021095	NP_066918	WXS	Illumina GAIIx	Phase_I	Q9Y289	SC5A6_HUMAN			9	1503	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		336					B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.1008C>T	CCDS1740.1																																																																																				0.592	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		3	27	0	0	0	1	0	3	27					A	27426733	G	A	27426733	2	1	276	1	0	0	0	0	0	0	0	1	14669	1049	37	1		1	SLC5A6	2	27426733	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		27426733	215772640	3	4803											
KIAA1211	57482	broad.mit.edu	37	4	57189657	57189657	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:57189657G>A	ENST00000504228.1	+	7	3407	c.3302G>A	c.(3301-3303)cGg>cAg	p.R1101Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094Q			Q6ZU35	K1211_HUMAN	KIAA1211	1101										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGGGTTTCGGGAGCAGCAG	0.522																																						uc003hbk.2																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3301-3303)cGg>cAg		Homo sapiens KIAA1211 (KIAA1211), mRNA.							72	82	79					4																	57189657		1956	4138	6094	SO:0001583	missense	57482							g.chr4:57189657G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3302G>A	4.37:g.57189657G>A	ENSP00000423366:p.Arg1101Gln		Somatic				KIAA1211_uc010iha.2_Missense_Mutation_p.R1094Q	p.R1101Q	NM_020722	NP_065773	WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			8	3693	+	Glioma(25;0.08)|all_neural(26;0.101)		1101					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3302G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561671	0.96527	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.18338	2.44;2.44;2.22	5.5	5.5	0.81552	.	.	.	.	.	T	0.43787	0.1263	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.31833	-0.9929	9	0.87932	D	0	-22.2918	19.4113	0.94673	0.0:0.0:1.0:0.0	.	1094;1101	F5H1N7;Q6ZU35	.;K1211_HUMAN	Q	1101;1101;1094	ENSP00000264229:R1101Q;ENSP00000423366:R1101Q;ENSP00000444006:R1094Q	ENSP00000264229:R1101Q	R	+	2	0	KIAA1211	56884414	1.000000	0.71417	0.970000	0.41538	0.912000	0.54170	9.188000	0.94921	2.579000	0.87056	0.563000	0.77884	CGG		0.522	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	27	0	0	0	1	0	3	27					A	57189657	G	A	57189657	3	1	276	1	0	0	0	0	1	0	0	0	8215	1116	39	1	3324	1	KIAA1211	4	57189657	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		57189657	133964619	4	4804											
SHROOM3	57619	broad.mit.edu	37	4	77476902	77476902	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:77476902G>T	ENST00000296043.6	+	2	1262	c.309G>T	c.(307-309)agG>agT	p.R103S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	103	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGACCCTCAGGCTGGTAGTGC	0.592																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(307-309)agG>agT		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							103	89	94					4																	77476902		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77476902G>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.309G>T	4.37:g.77476902G>T	ENSP00000296043:p.Arg103Ser		Somatic					p.R103S	NM_020859	NP_065910	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		1	1262	+			103			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.309G>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971965	0.34754	.	.	ENSG00000138771	ENST00000296043	T	0.26373	1.74	4.44	3.51	0.40186	PDZ/DHR/GLGF (4);	0.413927	0.19167	N	0.121056	T	0.16599	0.0399	N	0.20304	0.555	0.30045	N	0.812301	B	0.29909	0.261	B	0.33392	0.163	T	0.07252	-1.0782	10	0.62326	D	0.03	-16.4081	7.6555	0.28373	0.0918:0.1684:0.7398:0.0	.	103	Q8TF72	SHRM3_HUMAN	S	103	ENSP00000296043:R103S	ENSP00000296043:R103S	R	+	3	2	SHROOM3	77695926	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.208000	0.51114	2.398000	0.81561	0.467000	0.42956	AGG		0.592	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		3	52	0	0	0	1	0	3	52					T	77476902	G	T	77476902	3	4	276	1	0	0	0	0	1	0	0	0	14295	1194	42	4	315	4	SHROOM3	4	77476902	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	20287245	77476902	113677374	5	4805											
LRP2BP	55805	broad.mit.edu	37	4	186291863	186291863	+	Silent	SNP	G	G	A	rs550395072		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:186291863G>A	ENST00000328559.7	-	7	1720	c.909C>T	c.(907-909)caC>caT	p.H303H	LRP2BP_ENST00000505916.1_Silent_p.H303H|LRP2BP_ENST00000510776.1_Silent_p.H277H|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Silent_p.H305H	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	303						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)		GACACCTTGCGTGGTAGAAGG	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		20717	0		0	False		,,,				2504	0					uc003ixj.2																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(907-909)caC>caT		Homo sapiens LRP2 binding protein (LRP2BP), mRNA.							131	111	118					4																	186291863		2203	4300	6503	SO:0001819	synonymous_variant	55805					cytoplasm	protein binding	g.chr4:186291863G>A	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.909C>T	4.37:g.186291863G>A			Somatic				LRP2BP_uc003ixk.2_Silent_p.H277H	p.H303H	NM_018409	NP_060879	WXS	Illumina GAIIx	Phase_I	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)	6	1721	-		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)	303					A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	ENST00000328559.7	37	c.909C>T	CCDS3840.1																																																																																				0.478	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		5	98	0	0	0	1	0	5	98					A	186291863	G	A	186291863	2	1	276	1	0	0	0	0	0	0	0	1	8957	1136	40	1		1	LRP2BP	4	186291863	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08	108814961	186291863	4862413	6	4806											
LECT2	3950	broad.mit.edu	37	5	135288629	135288629	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr5:135288629C>T	ENST00000274507.1	-	2	274	c.74G>A	c.(73-75)tGt>tAt	p.C25Y	LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000512872.1_De_novo_Start_OutOfFrame|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	25					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517																																						uc003lbe.1																			1	Substitution - Missense(1)	p.C25Y(2)	upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(73-75)tGt>tAt		Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.							151	142	145					5																	135288629		2203	4300	6503	SO:0001583	missense	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135288629C>T	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.74G>A	5.37:g.135288629C>T	ENSP00000274507:p.Cys25Tyr		Somatic					p.C25Y	NM_002302	NP_002293	WXS	Illumina GAIIx	Phase_I	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	275	-			25					B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000274507.1	37	c.74G>A	CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469216	0.63625	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000514447	T;T;T	0.09255	3.0;3.0;3.0	5.96	5.1	0.69264	.	0.042993	0.85682	N	0.000000	T	0.31167	0.0788	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.03695	-1.1012	10	0.87932	D	0	-8.5927	10.8827	0.46948	0.0:0.9144:0.0:0.0856	.	25	O14960	LECT2_HUMAN	Y	25	ENSP00000429618:C25Y;ENSP00000274507:C25Y;ENSP00000421123:C25Y	ENSP00000274507:C25Y	C	-	2	0	LECT2	135316528	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	2.712000	0.47186	1.525000	0.49052	0.650000	0.86243	TGT		0.517	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		8	181	0	0	0	1	0	8	181					T	135288629	C	T	135288629	3	4	276	1	0	0	0	0	1	0	0	0	8713	478	17	2	393	2	LECT2	5	135288629	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		135288629	45626631	7	4807											
TCP1	6950	broad.mit.edu	37	6	160205735	160205735	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:160205735G>A	ENST00000321394.7	-	6	913	c.633C>T	c.(631-633)atC>atT	p.I211I	SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_Silent_p.I56I|TCP1_ENST00000420894.2_Silent_p.I211I	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	211					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CATAGCCACTGATGAGCATAC	0.413																																						uc003qsr.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(631-633)atC>atT		Homo sapiens t-complex 1 (TCP1), transcript variant 1, mRNA.							106	103	104					6																	160205735		2203	4300	6503	SO:0001819	synonymous_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	Golgi apparatus|cell junction	ATP binding|unfolded protein binding	g.chr6:160205735G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.633C>T	6.37:g.160205735G>A			Somatic				TCP1_uc003qss.3_Silent_p.I56I	p.I211I	NM_030752	NP_001008897	WXS	Illumina GAIIx	Phase_I	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	5	868	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	211					E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	c.633C>T	CCDS5269.1																																																																																				0.413	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		36	86	0	0	0	1	0	36	86					A	160205735	G	A	160205735	2	1	276	1	0	0	0	0	0	0	0	1	15706	1280	45	2		2	TCP1	6	160205735	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		160205735	10909332	8	4808											
MKLN1	4289	broad.mit.edu	37	7	131012679	131012679	+	Silent	SNP	C	C	T	rs142689824		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr7:131012679C>T	ENST00000352689.6	+	1	61	c.21C>T	c.(19-21)gtC>gtT	p.V7V	MKLN1-AS2_ENST00000416220.1_RNA|MKLN1_ENST00000421797.2_Intron|MKLN1-AS2_ENST00000454515.1_RNA|MKLN1_ENST00000429546.1_Intron|MKLN1-AS2_ENST00000429067.1_RNA	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	7					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCGGAGCTGTCGCTGCGGCGC	0.677																																						uc011kpm.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(19-21)gtC>gtT		Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.							25	28	27					7																	131012679		2175	4246	6421	SO:0001819	synonymous_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012679C>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.21C>T	7.37:g.131012679C>T			Somatic				MKLN1_uc011kpl.2_Intron|MKLN1_uc010lmh.2_Silent_p.V7V|MKLN1_uc003vqs.3_5'UTR|AK054623_uc003vqr.1_5'Flank	p.V7V	NM_013255	NP_037387	WXS	Illumina GAIIx	Phase_I	Q9UL63	MKLN1_HUMAN			0	85	+	Melanoma(18;0.162)		7					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	c.21C>T	CCDS34754.1																																																																																				0.677	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		7	64	0	0	0	1	0	7	64					T	131012679	C	T	131012679	2	4	276	1	0	0	0	0	0	0	0	1	9603	871	31	1		1	MKLN1	7	131012679	Silent	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		131012679	28125984	9	4809											
CSMD1	64478	broad.mit.edu	37	8	2832078	2832078	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr8:2832078C>T	ENST00000520002.1	-	57	9193	c.8638G>A	c.(8638-8640)Gcc>Acc	p.A2880T	CSMD1_ENST00000602723.1_Missense_Mutation_p.A2822T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2821T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2879T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2880T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2822T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2880	Sushi 21. {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)		TGCACGACGGCGCCATAGGTA	0.557																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(8635-8637)Gcc>Acc		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							46	49	48					8																	2832078		2010	4169	6179	SO:0001583	missense	64478					integral to membrane		g.chr8:2832078C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8638G>A	8.37:g.2832078C>T	ENSP00000430733:p.Ala2880Thr		Somatic				CSMD1_uc011kwj.2_Missense_Mutation_p.A2209T|CSMD1_uc010lrg.3_Missense_Mutation_p.A890T	p.A2879T	NM_033225	NP_150094	WXS	Illumina GAIIx	Phase_I	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)	55	9025	-		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)	2880			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8635G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.778|6.778	0.512416|0.512416	0.12944|0.12944	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15|.	5.66|5.66	2.43|2.43	0.29744|0.29744	Complement control module (2);Sushi/SCR/CCP (3);|.	0.231592|.	0.37136|.	N|.	0.002235|.	T|T	0.45196|0.45196	0.1330|0.1330	L|L	0.38733|0.38733	1.17|1.17	0.80722|0.80722	D|D	1|1	P;B;B|.	0.48834|.	0.916;0.299;0.254|.	B;B;B|.	0.42422|.	0.387;0.384;0.095|.	T|T	0.19549|0.19549	-1.0302|-1.0302	10|5	0.59425|.	D|.	0.04|.	.|.	6.9946|6.9946	0.24774|0.24774	0.5713:0.3333:0.0:0.0953|0.5713:0.3333:0.0:0.0953	.|.	2880;2880;2821|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|H	2822;2880;2741;2879;2821|2296	ENSP00000383047:A2822T;ENSP00000430733:A2880T;ENSP00000441462:A2879T;ENSP00000446243:A2821T|.	ENSP00000320445:A2741T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	2819485|2819485	0.115000|0.115000	0.22152|0.22152	0.036000|0.036000	0.18154|0.18154	0.004000|0.004000	0.04260|0.04260	0.652000|0.652000	0.24888|0.24888	0.660000|0.660000	0.30964|0.30964	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	22	0	0	0	1	0	6	22					T	2832078	C	T	2832078	3	4	276	1	0	0	0	0	1	0	0	0	3944	768	27	1	2119	1	CSMD1	8	2832078	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		2832078	143531944	10	4810											
STX17	55014	broad.mit.edu	37	9	102713485	102713485	+	Silent	SNP	A	A	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr9:102713485A>G	ENST00000259400.6	+	4	469	c.333A>G	c.(331-333)gaA>gaG	p.E111E	STX17_ENST00000525640.1_Silent_p.E111E|STX17_ENST00000534052.1_Silent_p.E111E|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	111					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCATTTGGAATCTGTAGAAG	0.393																																						uc004bal.4																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(331-333)gaA>gaG		Homo sapiens syntaxin 17 (STX17), mRNA.							107	106	107					9																	102713485		2203	4299	6502	SO:0001819	synonymous_variant	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102713485A>G	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.333A>G	9.37:g.102713485A>G			Somatic				STX17_uc004bak.3_Silent_p.E111E|STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	p.E111E	NM_017919	NP_060389	WXS	Illumina GAIIx	Phase_I	P56962	STX17_HUMAN			3	469	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	111					Q4VXC2	Silent	SNP	ENST00000259400.6	37	c.333A>G	CCDS6745.1																																																																																				0.393	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		11	40	0	0	0	1	0	11	40					G	102713485	A	G	102713485	2	3	276	1	0	0	0	0	0	0	0	1	15339	98	4	3		3	STX17	9	102713485	Silent	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08		102713485	38499946	11	4811											
NHLRC2	374354	broad.mit.edu	37	10	115614727	115614727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr10:115614727delG	ENST00000369301.3	+	1	308	c.96delG	c.(94-96)cagfs	p.Q32fs	DCLRE1A_ENST00000369305.1_5'Flank|DCLRE1A_ENST00000361384.2_5'Flank|DCLRE1A_ENST00000476112.1_5'Flank	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	32										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTACCCAGCAGGAGAAGGACA	0.672																																						uc001lax.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(94-96)cagfs		Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.							45	38	40					10																	115614727		2162	4204	6366	SO:0001589	frameshift_variant	374354				cell redox homeostasis			g.chr10:115614727delG	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.96delG	10.37:g.115614727delG	ENSP00000358307:p.Gln32fs		Somatic				DCLRE1A_uc001law.2_5'Flank	p.Q32fs	NM_198514	NP_940916	WXS	Illumina GAIIx	Phase_I	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	0	337	+			32					Q8N1H1|Q8N5A6	Frame_Shift_Del	DEL	ENST00000369301.3	37	c.96delG	CCDS7585.1																																																																																				0.672	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		2	4						2	4	---	---	---	---	-	115614727	G	-	115614727	7	5	276	1	0	1	0	1	0	0	0	0	10406	991	35	0	98	0	NHLRC2	10	115614727	Frame_Shift_Del	DEL	G	TCGA-EM-A3FL-01A-11D-A21A-08		115614727	19920020	12	4812											
KDM5A	5927	broad.mit.edu	37	12	417066	417066	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:417066T>G	ENST00000399788.2	-	23	3846	c.3484A>C	c.(3484-3486)Aaa>Caa	p.K1162Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.K1162Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1162					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGCAAAATTTTACTTCTTCT	0.448			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3484-3486)Aaa>Caa		Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.							117	119	118					12																	417066		1994	4157	6151	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:417066T>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3484A>C	12.37:g.417066T>G	ENSP00000382688:p.Lys1162Gln		Somatic					p.K1162Q	NM_001042603	NP_001036068	WXS	Illumina GAIIx	Phase_I	P29375	KDM5A_HUMAN			22	3847	-			1162					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3484A>C	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772024	0.49680	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85013	-1.93;-1.93	5.52	5.52	0.82312	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.048451	0.85682	D	0.000000	T	0.80994	0.4731	L	0.46157	1.445	0.41655	D	0.98915	B;B	0.23249	0.029;0.082	B;B	0.25291	0.028;0.059	T	0.77998	-0.2376	10	0.46703	T	0.11	-17.2066	11.8592	0.52457	0.0:0.0:0.1459:0.8541	.	1162;1162	P29375;P29375-2	KDM5A_HUMAN;.	Q	1162	ENSP00000382688:K1162Q;ENSP00000372265:K1162Q	ENSP00000372265:K1162Q	K	-	1	0	KDM5A	287327	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	5.832000	0.69337	2.214000	0.71695	0.477000	0.44152	AAA		0.448	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		28	95	0	0	0	1	0	28	95					G	417066	T	G	417066	3	3	276	1	0	0	0	0	1	0	0	0	8133	1850	64	5	1612	5	KDM5A	12	417066	Missense_Mutation	SNP	T	TCGA-EM-A3FL-01A-11D-A21A-08		417066	133434829	13	4813											
XPOT	11260	broad.mit.edu	37	12	64810532	64810532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:64810532C>A	ENST00000332707.5	+	4	727	c.198C>A	c.(196-198)taC>taA	p.Y66*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	66	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AAGTTAAATACAAGTAAGGCT	0.318																																						uc001ssb.3																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(196-198)taC>taA		Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.							133	143	139					12																	64810532		2202	4300	6502	SO:0001587	stop_gained	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64810532C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.198C>A	12.37:g.64810532C>A	ENSP00000327821:p.Tyr66*		Somatic				XPOT_uc009zqm.2_5'UTR	p.Y66*	NM_007235	NP_009166	WXS	Illumina GAIIx	Phase_I	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	3	704	+			66			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	ENST00000332707.5	37	c.198C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	38	7.185625	0.98121	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	.	.	.	5.2	4.31	0.51392	.	0.101474	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8322	0.46667	0.0:0.8522:0.0:0.1478	.	.	.	.	X	66	.	.	Y	+	3	2	XPOT	63096799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.075000	0.41538	1.516000	0.48900	0.655000	0.94253	TAC		0.318	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		3	77	0	0	0	1	0	3	77					A	64810532	C	A	64810532	4	1	276	1	0	0	0	0	0	1	0	0	17447	489	17	4	208	4	XPOT	12	64810532	Nonsense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	64393466	64810532	69041363	14	4814											
DNAH10	196385	broad.mit.edu	37	12	124356031	124356031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:124356031delC	ENST00000409039.3	+	44	7338	c.7313delC	c.(7312-7314)accfs	p.T2438fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2438	AAA 3. {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)		ACTCGGACTACCTGGATATTG	0.433																																						uc001uft.4																			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.(7312-7314)accfs		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							52	51	51					12																	124356031		1869	4102	5971	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124356031delC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7313delC	12.37:g.124356031delC	ENSP00000386770:p.Thr2438fs		Somatic					p.T2438fs	NM_207437	NP_997320	WXS	Illumina GAIIx	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	43	7338	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2438			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.7313delC	CCDS9255.2																																																																																				0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			2	4						2	4	---	---	---	---	-	124356031	C	-	124356031	7	5	276	1	0	1	0	1	0	0	0	0	4598	507	18	0	7487	0	DNAH10	12	124356031	Frame_Shift_Del	DEL	C	TCGA-EM-A3FL-01A-11D-A21A-08	59545499	124356031	9495864	15	4815											
TMEM132B	114795	broad.mit.edu	37	12	125834274	125834274	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:125834274A>G	ENST00000299308.3	+	2	337	c.329A>G	c.(328-330)aAc>aGc	p.N110S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	110						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCTTTGGAAACATGGACAAA	0.468																																						uc001uhe.1																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(328-330)aAc>aGc		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.							115	112	113					12																	125834274		1901	4133	6034	SO:0001583	missense	114795					integral to membrane		g.chr12:125834274A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.329A>G	12.37:g.125834274A>G	ENSP00000299308:p.Asn110Ser		Somatic				TMEM132B_uc021rgl.1_5'UTR	p.N110S	NM_052907	NP_443139	WXS	Illumina GAIIx	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	1	337	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		110					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.329A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	4.549	0.101952	0.08731	.	.	ENSG00000139364	ENST00000299308	T	0.10099	2.91	5.49	-4.74	0.03249	.	.	.	.	.	T	0.03095	0.0091	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43845	-0.9366	9	0.18276	T	0.48	.	2.9038	0.05714	0.1987:0.284:0.3849:0.1325	.	110	Q14DG7	T132B_HUMAN	S	110	ENSP00000299308:N110S	ENSP00000299308:N110S	N	+	2	0	TMEM132B	124400227	0.000000	0.05858	0.000000	0.03702	0.548000	0.35241	1.083000	0.30815	-0.788000	0.04504	0.482000	0.46254	AAC		0.468	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	114	0	0	0	1	0	4	114					G	125834274	A	G	125834274	3	3	276	1	0	0	0	0	1	0	0	0	16043	43	2	3	335	3	TMEM132B	12	125834274	Missense_Mutation	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08	1478243	125834274	8017621	16	4816											
TPTE2	93492	broad.mit.edu	37	13	20004644	20004644	+	Missense_Mutation	SNP	C	C	A	rs372777846		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:20004644C>A	ENST00000400230.2	-	17	1310	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	TPTE2_ENST00000382977.4_Missense_Mutation_p.K422N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K382N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K345N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K311N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K311N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K345N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K382N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	422	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAGACAACCTTTTTCTCCA	0.328																																						uc001umd.3																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1264-1266)aaG>aaT		Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.		C	ASN/LYS,ASN/LYS,ASN/LYS	0,4404		0,0,2202	65	58	61		1266,1035,933	0.4	0.0	13		61	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	94,94,94	0,1,6500	AA,AC,CC		0.0116,0.0,0.0077	benign,benign,benign	422/523,345/446,311/412	20004644	1,13001	2202	4299	6501	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20004644C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1266G>T	13.37:g.20004644C>A	ENSP00000383089:p.Lys422Asn		Somatic				TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.K311N|TPTE2_uc001ume.3_Missense_Mutation_p.K345N|TPTE2_uc009zzm.3_Missense_Mutation_p.K93N|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.K93N	p.K422N	NM_199254	NP_954863	WXS	Illumina GAIIx	Phase_I	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	17	1477	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	422			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1266G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	5.433	0.265052	0.10294	0.0	1.16E-4	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	2.24	0.454	0.16644	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.531595	0.20024	N	0.100848	T	0.79009	0.4374	L	0.60455	1.87	0.09310	N	1	B;B;B	0.27594	0.107;0.151;0.182	B;B;B	0.31946	0.138;0.061;0.102	T	0.65191	-0.6228	9	.	.	.	-0.0344	5.3276	0.15915	0.0:0.6893:0.0:0.3107	.	311;345;422	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	382;311;422;345;345;422;382;311;422;291	ENSP00000372438:K382N;ENSP00000382974:K311N;ENSP00000383089:K422N;ENSP00000255310:K345N;ENSP00000375098:K345N;ENSP00000372437:K422N;ENSP00000372435:K382N;ENSP00000442218:K311N	.	K	-	3	2	TPTE2	18902644	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.414000	0.07114	0.027000	0.15297	-1.050000	0.02344	AAG		0.328	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		4	21	0	0	0	1	0	4	21					A	20004644	C	A	20004644	3	1	276	1	0	0	0	0	1	0	0	0	16428	680	24	4	318	4	TPTE2	13	20004644	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		20004644	95165234	17	4817											
MAB21L1	4081	broad.mit.edu	37	13	36050055	36050055	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:36050055A>T	ENST00000379919.4	-	1	777	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	74					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACCACTTCAAATTCGGTGGG	0.572																																						uc001uvc.3																			0		p.E73K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(220-222)tTt>tAt		Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.							94	94	94					13																	36050055		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050055A>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.221T>A	13.37:g.36050055A>T	ENSP00000369251:p.Phe74Tyr		Somatic				NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	p.F74Y	NM_005584	NP_005575	WXS	Illumina GAIIx	Phase_I	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	803	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	74					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.221T>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131597	0.56828	.	.	ENSG00000180660	ENST00000379919	T	0.10099	2.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.47016	1.485	0.80722	D	1	P	0.34997	0.479	B	0.36092	0.217	T	0.02075	-1.1218	10	0.48119	T	0.1	-2.8798	15.8843	0.79232	1.0:0.0:0.0:0.0	.	74	Q13394	MB211_HUMAN	Y	74	ENSP00000369251:F74Y	ENSP00000369251:F74Y	F	-	2	0	MAB21L1	34948055	1.000000	0.71417	0.643000	0.29450	0.982000	0.71751	9.339000	0.96797	2.164000	0.68074	0.533000	0.62120	TTT		0.572	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		4	132	0	0	0	1	0	4	132					T	36050055	A	T	36050055	3	4	276	1	0	0	0	0	1	0	0	0	9141	14	1	5	862	5	MAB21L1	13	36050055	Missense_Mutation	SNP	A	TCGA-EM-A3FL-01A-11D-A21A-08	16045411	36050055	79119823	18	4818											
ZFYVE26	23503	broad.mit.edu	37	14	68274320	68274320	+	Silent	SNP	G	G	A	rs372110379		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:68274320G>A	ENST00000347230.4	-	5	819	c.681C>T	c.(679-681)tgC>tgT	p.C227C	ZFYVE26_ENST00000555452.1_Silent_p.C227C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	227					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTTCTGCGGGGCAACGCAGAG	0.622																																						uc001xka.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(679-681)tgC>tgT		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							48	47	48					14																	68274320		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274320G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.681C>T	14.37:g.68274320G>A			Somatic				ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.C227C|ZFYVE26_uc010tta.2_Silent_p.C227C	p.C227C	NM_015346	NP_056161	WXS	Illumina GAIIx	Phase_I	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	4	820	-			227					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.681C>T	CCDS9788.1																																																																																				0.622	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	53	0	0	0	1	0	3	53					A	68274320	G	A	68274320	2	1	276	1	0	0	0	0	0	0	0	1	17665	1195	42	2		2	ZFYVE26	14	68274320	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		68274320	39075220	19	4819											
FAM82A2	55177	broad.mit.edu	37	15	41046872	41046872	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:41046872C>A	ENST00000260385.6	-	1	1177	c.110G>T	c.(109-111)cGg>cTg	p.R37L	RMDN3_ENST00000558560.1_5'Flank|RMDN3_ENST00000338376.3_Missense_Mutation_p.R37L			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	37					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											ACGCTGGGTCCGTTTCCATCG	0.662																																						uc001zmo.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(109-111)cGg>cTg		Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.							65	64	64					15																	41046872		2203	4300	6503	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41046872C>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"family with sequence similarity 82, member A2"	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.110G>T	15.37:g.41046872C>A	ENSP00000260385:p.Arg37Leu		Somatic				FAM82A2_uc001zmp.1_Missense_Mutation_p.R37L|FAM82A2_uc001zmq.1_Missense_Mutation_p.R37L	p.R37L	NM_018145	NP_060615	WXS	Illumina GAIIx	Phase_I	Q96TC7	RMD3_HUMAN			1	254	-			37					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.110G>T	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171956	0.78452	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.42513	0.97;0.97	5.59	4.65	0.58169	.	0.124363	0.49916	D	0.000136	T	0.30696	0.0773	L	0.32530	0.975	0.43168	D	0.994967	B	0.10296	0.003	B	0.10450	0.005	T	0.15665	-1.0429	10	0.72032	D	0.01	-9.254	7.4109	0.27017	0.1684:0.7475:0.0:0.084	.	37	Q96TC7	RMD3_HUMAN	L	37	ENSP00000260385:R37L;ENSP00000342493:R37L	ENSP00000260385:R37L	R	-	2	0	FAM82A2	38834164	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.390000	0.44416	1.447000	0.47661	0.655000	0.94253	CGG		0.662	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		3	64	0	0	0	1	0	3	64					A	41046872	C	A	41046872	3	1	276	1	0	0	0	0	1	0	0	0	5631	652	23	4	1350	4	FAM82A2	15	41046872	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08		41046872	61484520	20	4820											
NEDD4	4734	broad.mit.edu	37	15	56207613	56207613	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:56207613T>C	ENST00000508342.1	-	1	1716	c.1417A>G	c.(1417-1419)Aag>Gag	p.K473E	NEDD4_ENST00000338963.2_Missense_Mutation_p.K473E|NEDD4_ENST00000506154.1_Missense_Mutation_p.K473E|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	473					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)		CAATTGTGCTTAAGGCTGGAT	0.378																																						uc002adj.3																			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.(1417-1419)Aag>Gag		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.							138	141	140					15																	56207613		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	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56207613T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1417A>G	15.37:g.56207613T>C	ENSP00000424827:p.Lys473Glu		Somatic				NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.K473E|NEDD4_uc010ugj.2_Missense_Mutation_p.K473E|NEDD4_uc010bfm.3_Missense_Mutation_p.K473E|NEDD4_uc002adk.3_Non-coding_Transcript	p.K473E	NM_198400	NP_006145	WXS	Illumina GAIIx	Phase_I	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	0	1717	-			473					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.1417A>G		.	.	.	.	.	.	.	.	.	.	T	15.79	2.936443	0.52972	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.26957	1.7;1.73;1.72	5.46	4.31	0.51392	.	7.777730	0.00628	U	0.000475	T	0.36303	0.0962	M	0.61703	1.905	0.23784	N	0.996853	B;B;B	0.28291	0.206;0.131;0.206	B;B;B	0.31101	0.124;0.058;0.124	T	0.41592	-0.9500	10	0.59425	D	0.04	.	11.7943	0.52090	0.0:0.0:0.147:0.853	.	473;473;473	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	E	473	ENSP00000424827:K473E;ENSP00000345530:K473E;ENSP00000422705:K473E	ENSP00000345530:K473E	K	-	1	0	NEDD4	53994905	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	2.175000	0.42491	0.882000	0.36016	0.377000	0.23210	AAG		0.378	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		5	89	0	0	0	1	0	5	89					C	56207613	T	C	56207613	3	2	276	1	0	0	0	0	1	0	0	0	10310	1763	61	3	2642	3	NEDD4	15	56207613	Missense_Mutation	SNP	T	TCGA-EM-A3FL-01A-11D-A21A-08	15160741	56207613	46323779	21	4821											
DHX38	9785	broad.mit.edu	37	16	72137670	72137670	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr16:72137670G>A	ENST00000268482.3	+	13	2316	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	603	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGAGATGGGGGGAAACCTTGG	0.542																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.3																			0		p.G603E(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(1807-1809)Gga>Aga		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.							49	46	47					16																	72137670		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72137670G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1807G>A	16.37:g.72137670G>A	ENSP00000268482:p.Gly603Arg		Somatic				DHX38_uc010vmp.2_Intron	p.G603R	NM_014003	NP_054722	WXS	Illumina GAIIx	Phase_I	Q92620	PRP16_HUMAN			12	2162	+		Ovarian(137;0.125)	603			Helicase ATP-binding.		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.1807G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886305	0.51908	.	.	ENSG00000140829	ENST00000268482	T	0.07688	3.17	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.361804	0.28459	N	0.015264	T	0.13114	0.0318	L	0.41573	1.285	0.80722	D	1	B	0.28178	0.202	B	0.36335	0.222	T	0.07501	-1.0769	10	0.87932	D	0	.	19.1592	0.93524	0.0:0.0:1.0:0.0	.	603	Q92620	PRP16_HUMAN	R	603	ENSP00000268482:G603R	ENSP00000268482:G603R	G	+	1	0	DHX38	70695171	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	4.312000	0.59154	2.586000	0.87340	0.563000	0.77884	GGA		0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		3	54	0	0	0	1	0	3	54					A	72137670	G	A	72137670	3	1	276	1	0	0	0	0	1	0	0	0	4511	1233	43	2	1853	2	DHX38	16	72137670	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		72137670	18217083	22	4822											
EML2	24139	broad.mit.edu	37	19	46124495	46124495	+	Silent	SNP	G	G	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:46124495G>T	ENST00000245925.3	-	11	1142	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	EML2_ENST00000589876.1_Silent_p.S364S|EML2_ENST00000536630.1_Silent_p.S511S|EML2_ENST00000587152.1_Silent_p.S565S|EML2_ENST00000586902.1_5'Flank	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	364	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTGTGTGCACGGAGCCCTGCA	0.642																																						uc010ekj.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(991-993)cCg>cAg		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 2, mRNA.							123	101	108					19																	46124495		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124495G>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1092C>A	19.37:g.46124495G>T			Somatic				EML2_uc002pcn.3_Silent_p.S364S|EML2_uc002pcp.3_Silent_p.S248S|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.S511S|EML2_uc010xxm.2_Silent_p.S565S|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.S364S	p.P331Q			WXS	Illumina GAIIx	Phase_I	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	9	1033	-		Ovarian(192;0.179)|all_neural(266;0.224)	0					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.992C>A	CCDS12670.1																																																																																				0.642	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		3	59	0	0	0	1	0	3	59					T	46124495	G	T	46124495	2	4	276	1	0	0	0	0	0	0	0	1	5097	1103	39	4		4	EML2	19	46124495	Silent	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		46124495	13004488	23	4823											
TULP2	7288	broad.mit.edu	37	19	49385438	49385438	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:49385438C>T	ENST00000221399.3	-	12	1442	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	433					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		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;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGTTGGTAACGACTCAGTAG	0.502																																						uc002pkz.2																			0		p.R433C(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1297-1299)cGt>cAt		Homo sapiens tubby like protein 2 (TULP2), mRNA.							87	74	78					19																	49385438		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49385438C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1298G>A	19.37:g.49385438C>T	ENSP00000221399:p.Arg433His		Somatic					p.R433H	NM_003323	NP_003314	WXS	Illumina GAIIx	Phase_I	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	11	1449	-		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)	433					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1298G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912821	0.72983	.	.	ENSG00000104804	ENST00000221399	D	0.96554	-4.05	4.49	3.43	0.39272	Tubby, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	L	0.56199	1.76	0.44214	D	0.997043	D	0.57571	0.98	P	0.47102	0.537	D	0.94363	0.7589	10	0.72032	D	0.01	-13.7637	11.8564	0.52439	0.1764:0.8236:0.0:0.0	.	433	O00295	TULP2_HUMAN	H	433	ENSP00000221399:R433H	ENSP00000221399:R433H	R	-	2	0	TULP2	54077250	0.762000	0.28451	0.469000	0.27204	0.035000	0.12851	2.176000	0.42500	1.216000	0.43427	0.555000	0.69702	CGT		0.502	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		8	24	0	0	0	1	0	8	24					T	49385438	C	T	49385438	3	4	276	1	0	0	0	0	1	0	0	0	16771	536	19	1	272	1	TULP2	19	49385438	Missense_Mutation	SNP	C	TCGA-EM-A3FL-01A-11D-A21A-08	3260943	49385438	9743545	24	4824											
NDUFV3	4731	broad.mit.edu	37	21	44329112	44329112	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr21:44329112G>A	ENST00000340344.4	+	3	374	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	NDUFV3_ENST00000354250.2_Missense_Mutation_p.R468Q|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	103					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)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TCCTCAGGCCGGGAGTCACCT	0.512																																						uc002zcm.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1402-1404)cGg>cAg		Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						184	169	174					21																	44329112		2203	4300	6503	SO:0001583	missense	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44329112G>A		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.308G>A	21.37:g.44329112G>A	ENSP00000342895:p.Arg103Gln		Somatic				NDUFV3_uc002zcn.3_Missense_Mutation_p.R103Q	p.R468Q	NM_021075	NP_066553	WXS	Illumina GAIIx	Phase_I	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1469	+			103					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1403G>A	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880472	0.51801	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	4.21	0.49690	.	0.457209	0.20517	N	0.090762	T	0.68860	0.3047	M	0.72894	2.215	0.44966	D	0.997987	P;D	0.71674	0.931;0.998	B;P	0.56865	0.356;0.808	T	0.72953	-0.4135	9	0.72032	D	0.01	-8.3842	12.3989	0.55402	0.1349:0.0:0.8651:0.0	.	103;468	P56181;P56181-2	NDUV3_HUMAN;.	Q	468;103;107	.	ENSP00000342895:R103Q	R	+	2	0	NDUFV3	43202181	1.000000	0.71417	0.122000	0.21767	0.169000	0.22640	4.510000	0.60455	1.572000	0.49736	0.644000	0.83932	CGG		0.512	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			8	173	0	0	0	1	0	8	173					A	44329112	G	A	44329112	3	1	276	1	0	0	0	0	1	0	0	0	10301	1116	39	1	1417	1	NDUFV3	21	44329112	Missense_Mutation	SNP	G	TCGA-EM-A3FL-01A-11D-A21A-08		44329112	3800783	25	4825											
PALMD	54873	broad.mit.edu	37	1	100152261	100152261	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:100152261A>G	ENST00000263174.4	+	4	656	c.281A>G	c.(280-282)aAa>aGa	p.K94R	PALMD_ENST00000605497.1_Missense_Mutation_p.K94R	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	94					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCTTGAAAAAGCTGAACTG	0.368																																						uc001dsg.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(280-282)aAa>aGa		Homo sapiens palmdelphin (PALMD), mRNA.							78	84	82					1																	100152261		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100152261A>G	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.281A>G	1.37:g.100152261A>G	ENSP00000263174:p.Lys94Arg		Somatic					p.K94R	NM_017734	NP_060204	WXS	Illumina GAIIx	Phase_I	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	3	724	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	94					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.281A>G	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259769	0.39995	.	.	ENSG00000099260	ENST00000263174	T	0.17213	2.29	5.87	1.0	0.19881	.	0.215311	0.48286	N	0.000190	T	0.05364	0.0142	L	0.45137	1.4	0.36516	D	0.869891	B	0.25048	0.117	B	0.25884	0.064	T	0.25502	-1.0130	10	0.25751	T	0.34	-17.382	10.5091	0.44851	0.6831:0.0:0.3169:0.0	.	94	Q9NP74	PALMD_HUMAN	R	94	ENSP00000263174:K94R	ENSP00000263174:K94R	K	+	2	0	PALMD	99924849	0.945000	0.32115	0.884000	0.34674	0.983000	0.72400	0.857000	0.27831	-0.014000	0.14175	0.533000	0.62120	AAA		0.368	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		8	30	0	0	0	1	0	8	30					G	100152261	A	G	100152261	3	3	277	1	0	0	0	0	1	0	0	0	11411	14	1	3	295	3	PALMD	1	100152261	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		100152261	149098360	1	4826											
VN1R5	317705	broad.mit.edu	37	1	247420154	247420154	+	IGR	SNP	G	G	C			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:247420154G>C								RP11-488L18.8 (15029 upstream) : Y_RNA (37982 downstream)																							CTGTCCCCGAGTCTCACCAGT	0.468																																						uc010pyu.2																			0											c.(778-780)Gtc>Ctc		Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.							113	112	112					1																	247420154		1918	4128	6046	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247420154G>C																													1.37:g.247420154G>C			Somatic					p.V260L	NM_173858	NP_776257	WXS	Illumina GAIIx	Phase_I	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		1	778	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	261						Missense_Mutation	SNP		37	c.778G>C																																																																																				0	0.468									4	60	0	0	0	1	0	4	60					C	247420154	G	C	247420154	1	2	277	0	1	0	0	0	0	0	0	0	17178	1029	36	4		4	VN1R5	1	247420154	IGR	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08	147267893	247420154	1830467	2	4827											
COL4A3	1285	broad.mit.edu	37	2	228118353	228118353	+	Splice_Site	SNP	C	C	T	rs573527081	byFrequency	TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr2:228118353C>T	ENST00000396578.3	+	13	926	c.764C>T	c.(763-765)aCg>aTg	p.T255M	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	255	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTG	0.468													C|||	2	0.000399361	0	0	5008	,	,		17952	0		0	False		,,,				2504	0.002					uc002vom.2																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.e13+1		Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.							296	277	283					2																	228118353		1943	4144	6087	SO:0001630	splice_region_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118353C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.765+1C>T	2.37:g.228118353C>T			Somatic				BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	p.T255_splice	NM_000091	NP_000082	WXS	Illumina GAIIx	Phase_I	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	927	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	255			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Splice_Site	SNP	ENST00000396578.3	37	c.765_splice	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870179	0.72065	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94376	-3.41	5.59	5.59	0.84812	.	0.115539	0.38436	N	0.001697	D	0.95595	0.8568	L	0.60455	1.87	0.33974	D	0.647188	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.977;0.997;0.99;0.987	D	0.97171	0.9844	10	0.44086	T	0.13	.	15.0921	0.72204	0.0:1.0:0.0:0.0	.	255;255;255;255	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	M	255	ENSP00000379823:T255M	ENSP00000323334:T255M	T	+	2	0	COL4A3	227826597	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.581000	0.46077	2.628000	0.89032	0.655000	0.94253	ACG		0.468	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	Missense_Mutation	4	142	0	0	0	1	0	4	142					T	228118353	C	T	228118353	5	4	277	1	0	0	0	0	0	0	1	0	3691	550	19	1	814	1	COL4A3	2	228118353	Splice_Site	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		228118353	15081020	3	4828											
NBEAL2	23218	broad.mit.edu	37	3	47042545	47042545	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:47042545A>G	ENST00000450053.3	+	28	4539	c.4360A>G	c.(4360-4362)Acg>Gcg	p.T1454A	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1270A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1454					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)		GTTCTCGGTGACGTGGCGTGG	0.632																																						uc003cqp.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.(4360-4362)Acg>Gcg		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							74	90	84					3																	47042545		2144	4243	6387	SO:0001583	missense	23218						binding	g.chr3:47042545A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4360A>G	3.37:g.47042545A>G	ENSP00000415034:p.Thr1454Ala		Somatic				NBEAL2_uc010hjm.2_Missense_Mutation_p.T831A|NBEAL2_uc010hjn.2_5'Flank	p.T1454A	NM_015175	NP_055990	WXS	Illumina GAIIx	Phase_I	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4539	+		Acute lymphoblastic leukemia(5;0.0534)	1454					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4360A>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.81|11.81	1.749945|1.749945	0.30955|0.30955	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.56103|.	0.5;0.48|.	5.26|5.26	4.1|4.1	0.47936|0.47936	.|.	0.360379|.	0.28784|.	N|.	0.014146|.	T|.	0.51991|.	0.1707|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P|.	0.38395|.	0.629|.	B|.	0.44108|.	0.441|.	T|.	0.43877|.	-0.9364|.	10|.	0.20519|.	T|.	0.43|.	.|.	9.3351|9.3351	0.38045|0.38045	0.9153:0.0:0.0847:0.0|0.9153:0.0:0.0847:0.0	.|.	1454|.	Q6ZNJ1|.	NBEL2_HUMAN|.	A|W	1270;1454|741	ENSP00000292309:T1270A;ENSP00000415034:T1454A|.	ENSP00000292309:T1270A|.	T|X	+|+	1|3	0|0	NBEAL2|NBEAL2	47017549|47017549	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.443000|0.443000	0.32047|0.32047	3.698000|3.698000	0.54771|0.54771	1.012000|1.012000	0.39366|0.39366	0.533000|0.533000	0.62120|0.62120	ACG|TGA		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	49	0	0	0	1	0	3	49					G	47042545	A	G	47042545	3	3	277	1	0	0	0	0	1	0	0	0	10189	275	10	3	4470	3	NBEAL2	3	47042545	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		47042545	150979885	4	4829											
SLC15A2	6565	broad.mit.edu	37	3	121616260	121616260	+	Silent	SNP	T	T	C			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:121616260T>C	ENST00000489711.1	+	3	607	c.219T>C	c.(217-219)taT>taC	p.Y73Y	SLC15A2_ENST00000295605.2_Silent_p.Y73Y	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	73			Y -> C (in dbSNP:rs1143667).		drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATTTCCTGTATTTCCTGCACT	0.433																																						uc003eep.2																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(217-219)taT>taC		Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	Cefadroxil(DB01140)						131	129	130					3																	121616260		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121616260T>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.219T>C	3.37:g.121616260T>C			Somatic				SLC15A2_uc011bjn.1_Silent_p.Y73Y	p.Y73Y	NM_021082	NP_066568	WXS	Illumina GAIIx	Phase_I	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	2	372	+			73		Y -> C (in dbSNP:rs1143667).			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.219T>C	CCDS3007.1																																																																																				0.433	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		57	67	0	0	0	1	0	57	67					C	121616260	T	C	121616260	2	2	277	1	0	0	0	0	0	0	0	1	14399	1500	52	3		3	SLC15A2	3	121616260	Silent	SNP	T	TCGA-EM-A3FM-01A-11D-A21A-08	74573715	121616260	76406170	5	4830											
ZNF148	7707	broad.mit.edu	37	3	124952243	124952243	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:124952243C>G	ENST00000360647.4	-	9	1812	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.D443H|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.D443H|ZNF148_ENST00000484491.1_Missense_Mutation_p.D443H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	443					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGATCAATGTCAGCATTGCCT	0.393																																						uc003ehx.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1327-1329)Gac>Cac		Homo sapiens zinc finger protein 148 (ZNF148), mRNA.							97	92	94					3																	124952243		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952243C>G	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1327G>C	3.37:g.124952243C>G	ENSP00000353863:p.Asp443His		Somatic				SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.D443H|ZNF148_uc010hsa.3_Missense_Mutation_p.D443H|ZNF148_uc003eia.4_Missense_Mutation_p.D443H|ZNF148_uc003ehy.3_Intron	p.D443H	NM_021964	NP_068799	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			8	1813	-			443					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1327G>C	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095500	0.76870	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.31	5.31	0.75309	.	0.045975	0.85682	D	0.000000	T	0.60143	0.2246	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.61491	-0.7052	10	0.66056	D	0.02	-12.7842	19.1738	0.93594	0.0:1.0:0.0:0.0	.	443	Q9UQR1	ZN148_HUMAN	H	443	ENSP00000353863:D443H;ENSP00000420335:D443H;ENSP00000419322:D443H;ENSP00000420448:D443H	ENSP00000353863:D443H	D	-	1	0	ZNF148	126434933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.764000	0.94973	0.655000	0.94253	GAC		0.393	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		3	67	0	0	0	1	0	3	67					G	124952243	C	G	124952243	3	3	277	1	0	0	0	0	1	0	0	0	17731	826	29	4	1061	4	ZNF148	3	124952243	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	3335983	124952243	73070187	6	4831											
C7	730	broad.mit.edu	37	5	40937653	40937653	+	Splice_Site	SNP	G	G	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr5:40937653G>T	ENST00000313164.9	+	6	787		c.e6-1			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CCTTTTAACAGTTACAATGAA	0.378																																						uc003jmh.3																			0											c.e6-1		Homo sapiens complement component 7 (C7), mRNA.							90	83	85					5																	40937653		1830	4080	5910	SO:0001630	splice_region_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40937653G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.429-1G>T	5.37:g.40937653G>T			Somatic				C7_uc011cpn.1_Splice_Site	p.G143_splice	NM_000587	NP_000578	WXS	Illumina GAIIx	Phase_I	P10643	CO7_HUMAN			6	543	+		Ovarian(839;0.0112)	143			MACPF.		Q6P3T5|Q92489	Splice_Site	SNP	ENST00000313164.9	37	c.429_splice	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120528	0.77323	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7	40973410	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.992000	0.76238	2.941000	0.99782	0.655000	0.94253	.		0.378	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		Intron	8	14	0	0	0	1	0	8	14					T	40937653	G	T	40937653	5	4	277	1	0	0	0	0	0	0	1	0	2375	1043	36	4	450	4	C7	5	40937653	Splice_Site	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		40937653	139977607	7	4832											
TMEM181	57583	broad.mit.edu	37	6	158957887	158957887	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:158957887C>T	ENST00000367090.3	+	1	420	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	137					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CAAGGATGACCGCTACTACAG	0.746																																						uc003qrm.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(409-411)Cgc>Tgc		Homo sapiens transmembrane protein 181 (TMEM181), mRNA.							15	19	17					6																	158957887		1877	4039	5916	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:158957887C>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.409C>T	6.37:g.158957887C>T	ENSP00000356057:p.Arg137Cys		Somatic				TMEM181_uc010kjr.1_Silent_p.T2T	p.R137C	NM_020823	NP_065874	WXS	Illumina GAIIx	Phase_I	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	0	420	+		Breast(66;0.000776)|Ovarian(120;0.0303)	137					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.409C>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912685	0.92178	.	.	ENSG00000146433	ENST00000367090	.	.	.	4.05	4.05	0.47172	.	0.135532	0.51477	D	0.000093	T	0.60599	0.2281	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.66878	-0.5812	9	0.87932	D	0	.	14.4036	0.67065	0.0:1.0:0.0:0.0	.	137	Q9P2C4	TM181_HUMAN	C	137	.	ENSP00000356057:R137C	R	+	1	0	TMEM181	158877875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.199000	0.65152	1.827000	0.53221	0.561000	0.74099	CGC		0.746	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		5	39	0	0	0	1	0	5	39					T	158957887	C	T	158957887	3	4	277	1	0	0	0	0	1	0	0	0	16097	652	23	1	411	1	TMEM181	6	158957887	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		158957887	12157180	8	4833											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	45	0	0	0	1	0	25	45					T	140453136	A	T	140453136	3	4	277	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		140453136	18685527	9	4834											
NUP214	8021	broad.mit.edu	37	9	134004831	134004831	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr9:134004831G>A	ENST00000359428.5	+	4	703	c.559G>A	c.(559-561)Gca>Aca	p.A187T	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.A187T|NUP214_ENST00000451030.1_Missense_Mutation_p.A187T			P35658	NU214_HUMAN	nucleoporin 214kDa	187	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAAAGTATGTGCAACTCTTCC	0.448			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(559-561)Gca>Aca		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							244	193	210					9																	134004831		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134004831G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.559G>A	9.37:g.134004831G>A	ENSP00000352400:p.Ala187Thr		Somatic				NUP214_uc004cah.3_Missense_Mutation_p.A187T|NUP214_uc004caf.1_Missense_Mutation_p.A187T	p.A187T	NM_005085	NP_005076	WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	3	670	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	187					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.559G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972750	0.92919	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.93953	-3.32;-3.32;-3.32	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.38111	N	0.001814	D	0.95840	0.8646	M	0.63843	1.955	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	D	0.96175	0.9126	10	0.66056	D	0.02	-12.615	17.5111	0.87760	0.0:0.0:1.0:0.0	.	187;187	P35658-4;P35658	.;NU214_HUMAN	T	187	ENSP00000352400:A187T;ENSP00000396576:A187T;ENSP00000405014:A187T	ENSP00000352400:A187T	A	+	1	0	NUP214	132994652	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.694000	0.68272	2.434000	0.82447	0.655000	0.94253	GCA		0.448	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		15	176	0	0	0	1	0	15	176					A	134004831	G	A	134004831	3	1	277	1	0	0	0	0	1	0	0	0	10762	1319	46	2	573	2	NUP214	9	134004831	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		134004831	7208600	10	4835											
ADARB2	105	broad.mit.edu	37	10	1229245	1229245	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:1229245G>A	ENST00000381312.1	-	10	2433	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V|ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	703	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTAGGTGTGCGCCCCCAGCTT	0.592																																						uc009xhq.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2107-2109)gCg>gTg		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							63	59	60					10																	1229245		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1229245G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2108C>T	10.37:g.1229245G>A	ENSP00000370713:p.Ala703Val		Somatic				ADARB2_uc001igj.2_Missense_Mutation_p.A87V|ADARB2_uc001igl.4_Missense_Mutation_p.A65V|ADARB2_uc001igm.4_Missense_Mutation_p.A212V	p.A703V	NM_018702	NP_061172	WXS	Illumina GAIIx	Phase_I	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2434	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	703			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.2108C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049338	0.75846	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94862	-3.54;-3.54;-3.54	5.32	5.32	0.75619	Adenosine deaminase/editase (3);	0.104162	0.64402	D	0.000003	D	0.96488	0.8854	M	0.70787	2.145	0.58432	D	0.999998	D;D;D	0.89917	0.995;0.999;1.0	P;P;D	0.87578	0.559;0.622;0.998	D	0.95478	0.8558	10	0.34782	T	0.22	-24.9767	13.9181	0.63914	0.0:0.0:0.8479:0.1521	.	703;105;212	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	V	703;212;105	ENSP00000370713:A703V;ENSP00000370711:A212V;ENSP00000370706:A105V	ENSP00000370706:A105V	A	-	2	0	ADARB2	1219245	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	6.563000	0.73964	2.502000	0.84385	0.561000	0.74099	GCG		0.592	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	35	0	0	0	1	0	5	35					A	1229245	G	A	1229245	3	1	277	1	0	0	0	0	1	0	0	0	283	1087	38	1	115	1	ADARB2	10	1229245	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		1229245	134305502	11	4836											
FRMD4A	55691	broad.mit.edu	37	10	13708265	13708265	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:13708265C>T	ENST00000357447.2	-	18	1803	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A464T|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A479T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	479					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGCGGCGGGCGGCCTCCGTA	0.527																																						uc001ims.3																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1435-1437)Gcc>Acc		Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.							70	71	71					10																	13708265		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708265C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1435G>A	10.37:g.13708265C>T	ENSP00000350032:p.Ala479Thr		Somatic				FRMD4A_uc009xjf.1_Missense_Mutation_p.A479T|FRMD4A_uc001imt.1_Missense_Mutation_p.A512T	p.A479T	NM_018027	NP_060497	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			17	1787	-			479					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1435G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376061	0.95923	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.90444	-2.66;-2.67;-2.67;-2.43	5.05	5.05	0.67936	.	0.048900	0.85682	D	0.000000	D	0.94584	0.8255	M	0.67569	2.06	0.80722	D	1	D;P	0.76494	0.999;0.93	D;P	0.70016	0.967;0.711	D	0.94522	0.7728	10	0.56958	D	0.05	-22.9481	18.5945	0.91225	0.0:1.0:0.0:0.0	.	512;479	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	T	464;479;479;512	ENSP00000351438:A464T;ENSP00000350032:A479T;ENSP00000367764:A479T;ENSP00000264546:A512T	ENSP00000264546:A512T	A	-	1	0	FRMD4A	13748271	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	5.817000	0.69229	2.641000	0.89580	0.561000	0.74099	GCC		0.527	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		13	31	0	0	0	1	0	13	31					T	13708265	C	T	13708265	3	4	277	1	0	0	0	0	1	0	0	0	6051	768	27	1	1712	1	FRMD4A	10	13708265	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	12479020	13708265	121826482	12	4837											
KRTAP5-7	440050	broad.mit.edu	37	11	71238544	71238544	+	Silent	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:71238544C>T	ENST00000398536.4	+	1	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	66	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G66G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652																																						uc001oqq.1																			1	Substitution - coding silent(1)	p.G66G(2)	breast(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(196-198)ggC>ggT		Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.							79	108	98					11																	71238544		2196	4286	6482	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238544C>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"Keratin associated proteins"	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.198C>T	11.37:g.71238544C>T			Somatic					p.G66G	NM_001012503	NP_001012521	WXS	Illumina GAIIx	Phase_I	Q6L8G8	KRA57_HUMAN			0	232	+			66			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.198C>T	CCDS41682.1																																																																																				0.652	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	352	0	0	0	1	0	8	352					T	71238544	C	T	71238544	2	4	277	1	0	0	0	0	0	0	0	1	8566	784	28	2		2	KRTAP5-7	11	71238544	Silent	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		71238544	63767972	13	4838											
ADAMTS15	170689	broad.mit.edu	37	11	130339245	130339245	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:130339245C>G	ENST00000299164.2	+	5	1631	c.1631C>G	c.(1630-1632)aCc>aGc	p.T544S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	544	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGGCAGTGCACCAACCCCACC	0.642																																						uc010scd.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1630-1632)aCc>aGc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.							55	45	48					11																	130339245		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130339245C>G	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1631C>G	11.37:g.130339245C>G	ENSP00000299164:p.Thr544Ser		Somatic					p.T544S	NM_139055	NP_620686	WXS	Illumina GAIIx	Phase_I	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1631	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	544			TSP type-1 1.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1631C>G	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360736	0.24598	.	.	ENSG00000166106	ENST00000299164	T	0.51071	0.72	5.49	1.32	0.21799	.	.	.	.	.	T	0.30293	0.0760	N	0.21097	0.63	0.27579	N	0.949635	B	0.02656	0.0	B	0.04013	0.001	T	0.19192	-1.0313	9	0.37606	T	0.19	.	7.0325	0.24975	0.2575:0.5133:0.2292:0.0	.	544	Q8TE58	ATS15_HUMAN	S	544	ENSP00000299164:T544S	ENSP00000299164:T544S	T	+	2	0	ADAMTS15	129844455	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.932000	0.40143	0.295000	0.22570	-0.165000	0.13383	ACC		0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		7	52	0	0	0	1	0	7	52					G	130339245	C	G	130339245	3	3	277	1	0	0	0	0	1	0	0	0	260	507	18	4	1649	4	ADAMTS15	11	130339245	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08	59100701	130339245	4667271	14	4839											
LTBP2	4053	broad.mit.edu	37	14	74971835	74971835	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:74971835G>A	ENST00000261978.4	-	29	4606	c.4220C>T	c.(4219-4221)gCc>gTc	p.A1407V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1363V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1407					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGTGGGGGCCGGGGCATG	0.622																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4219-4221)gCc>gTc		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							35	38	37					14																	74971835		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971835G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4220C>T	14.37:g.74971835G>A	ENSP00000261978:p.Ala1407Val		Somatic					p.A1407V	NM_000428	NP_000419	WXS	Illumina GAIIx	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	28	4607	-			1407					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4220C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150296	0.21371	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78481	-1.17;-1.18	4.73	2.9	0.33743	Matrix fibril-associated (1);	1.016850	0.07916	N	0.975130	T	0.56077	0.1961	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.32370	T	0.25	.	8.2758	0.31871	0.0:0.4677:0.4431:0.0892	.	1407	Q14767	LTBP2_HUMAN	V	1407;1363	ENSP00000261978:A1407V;ENSP00000451477:A1363V	ENSP00000261978:A1407V	A	-	2	0	LTBP2	74041588	0.133000	0.22466	0.018000	0.16275	0.001000	0.01503	0.328000	0.19681	0.605000	0.29947	-1.107000	0.02091	GCC		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	66	0	0	0	1	0	4	66					A	74971835	G	A	74971835	3	1	277	1	0	0	0	0	1	0	0	0	9074	1203	42	2	1277	2	LTBP2	14	74971835	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		74971835	32377705	15	4840											
SERPINA12	145264	broad.mit.edu	37	14	94964650	94964650	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:94964650T>A	ENST00000341228.2	-	3	880	c.85A>T	c.(85-87)Aat>Tat	p.N29Y	SERPINA12_ENST00000556881.1_Missense_Mutation_p.N29Y	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	29					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTTTATAATTCCTTGGTGAG	0.473																																						uc001ydj.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(85-87)Aat>Tat		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.							124	124	124					14																	94964650		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964650T>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.85A>T	14.37:g.94964650T>A	ENSP00000342109:p.Asn29Tyr		Somatic					p.N29Y	NM_173850	NP_776249	WXS	Illumina GAIIx	Phase_I	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	2	881	-			29						Missense_Mutation	SNP	ENST00000341228.2	37	c.85A>T	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.363406	0.24684	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87966	-2.32;-2.32	5.75	-0.933	0.10431	Serpin domain (1);	0.981567	0.08330	N	0.962506	T	0.69088	0.3072	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.54282	-0.8317	10	0.40728	T	0.16	.	0.8984	0.01269	0.223:0.2654:0.1153:0.3963	.	29	Q8IW75	SPA12_HUMAN	Y	29	ENSP00000451738:N29Y;ENSP00000342109:N29Y	ENSP00000342109:N29Y	N	-	1	0	SERPINA12	94034403	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.011000	0.13264	-0.390000	0.07774	0.533000	0.62120	AAT		0.473	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		4	87	0	0	0	1	0	4	87					A	94964650	T	A	94964650	3	1	277	1	0	0	0	0	1	0	0	0	14089	1783	62	5	1175	5	SERPINA12	14	94964650	Missense_Mutation	SNP	T	TCGA-EM-A3FM-01A-11D-A21A-08	19992815	94964650	12384890	16	4841											
AKAP13	11214	broad.mit.edu	37	15	86270359	86270359	+	Silent	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr15:86270359G>A	ENST00000394518.2	+	28	6980	c.6885G>A	c.(6883-6885)gaG>gaA	p.E2295E	AKAP13_ENST00000394510.2_Silent_p.E540E|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.E2299E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2295	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CACATGAGGAGAAAGGTTTAT	0.433																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blu.1																			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.(6895-6897)gaG>gaA		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.							114	100	105					15																	86270359		2202	4299	6501	SO:0001819	synonymous_variant	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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity	g.chr15:86270359G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6885G>A	15.37:g.86270359G>A			Somatic				AKAP13_uc002blv.1_Silent_p.E2295E|AKAP13_uc010bnf.1_Silent_p.E916E|AKAP13_uc002blw.1_Silent_p.E760E|AKAP13_uc002blx.1_Silent_p.E540E	p.E2299E	NM_006738	NP_006729	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			27	7067	+			2295			Interaction with ESR1.|PH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.6897G>A	CCDS32319.1																																																																																				0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	57	0	0	0	1	0	7	57					A	86270359	G	A	86270359	2	1	277	1	0	0	0	0	0	0	0	1	449	933	33	2		2	AKAP13	15	86270359	Silent	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		86270359	16261033	17	4842											
CHD3	1107	broad.mit.edu	37	17	7797853	7797853	+	Missense_Mutation	SNP	G	G	A	rs144356754		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr17:7797853G>A	ENST00000330494.7	+	8	1346	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	CHD3_ENST00000380358.4_Missense_Mutation_p.R458H|CHD3_ENST00000358181.4_Missense_Mutation_p.R399H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	399					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCTGCCCTCGTGCCTACCAC	0.577																																						uc002gjd.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1372-1374)cGt>cAt		Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	178	131	147		1373,1196,1196	4.8	1.0	17	dbSNP_134	147	0,8600		0,0,4300	yes	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	458/2060,399/2001,399/1967	7797853	1,13005	2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797853G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1196G>A	17.37:g.7797853G>A	ENSP00000332628:p.Arg399His		Somatic				CHD3_uc002gje.2_Missense_Mutation_p.R399H|CHD3_uc002gjf.2_Missense_Mutation_p.R399H|CHD3_uc002gjg.1_Missense_Mutation_p.R227H	p.R458H	NM_001005271	NP_001005271	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			7	1375	+		Prostate(122;0.202)	399					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1373G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869422	0.72065	2.27E-4	0.0	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.94897	-3.55;-3.55;-3.55	4.81	4.81	0.61882	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.299131	0.24269	N	0.040014	D	0.97170	0.9075	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	D	0.97815	1.0253	10	0.87932	D	0	-1.4663	18.0617	0.89379	0.0:0.0:1.0:0.0	.	399;399;458	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	458;399;399	ENSP00000369716:R458H;ENSP00000350907:R399H;ENSP00000332628:R399H	ENSP00000332628:R399H	R	+	2	0	CHD3	7738578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.537000	0.98070	2.499000	0.84300	0.557000	0.71058	CGT		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	184	0	0	0	1	0	7	184					A	7797853	G	A	7797853	3	1	277	1	0	0	0	0	1	0	0	0	3326	1145	40	1	1507	1	CHD3	17	7797853	Missense_Mutation	SNP	G	TCGA-EM-A3FM-01A-11D-A21A-08		7797853	73397357	18	4843											
MAPK4	5596	broad.mit.edu	37	18	48190438	48190438	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr18:48190438C>T	ENST00000400384.2	+	2	1146	c.110C>T	c.(109-111)gCc>gTc	p.A37V	MAPK4_ENST00000592595.1_Missense_Mutation_p.A37V|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A37V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTGCTGTCGGCCGTGGACAGC	0.597																																						uc002lev.3																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(109-111)gCc>gTc		Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.							78	86	84					18																	48190438		2107	4223	6330	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190438C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.110C>T	18.37:g.48190438C>T	ENSP00000383234:p.Ala37Val		Somatic				MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.A37V	p.A37V	NM_002747	NP_002738	WXS	Illumina GAIIx	Phase_I	P31152	MK04_HUMAN		Colorectal(21;0.156)	1	1110	+		Colorectal(6;0.0297)	37			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.110C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949295	0.73787	.	.	ENSG00000141639	ENST00000400384	T	0.55413	0.52	5.87	5.87	0.94306	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	0.64402	D	0.000002	T	0.68842	0.3045	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.67806	-0.5575	10	0.56958	D	0.05	-4.502	18.9662	0.92697	0.0:1.0:0.0:0.0	.	37;37	Q0VG04;P31152	.;MK04_HUMAN	V	37	ENSP00000383234:A37V	ENSP00000383234:A37V	A	+	2	0	MAPK4	46444436	1.000000	0.71417	0.174000	0.22961	0.098000	0.18820	7.815000	0.86186	2.780000	0.95670	0.561000	0.74099	GCC		0.597	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		8	118	0	0	0	1	0	8	118					T	48190438	C	T	48190438	3	4	277	1	0	0	0	0	1	0	0	0	9280	739	26	2	112	2	MAPK4	18	48190438	Missense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		48190438	29886810	19	4844											
ZNF136	7695	broad.mit.edu	37	19	12297911	12297911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr19:12297911C>T	ENST00000343979.4	+	4	858	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R174*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	240					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CACAAGTGTTCGAAGACACAT	0.393																																						uc002mti.3																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(718-720)Cga>Tga		Homo sapiens zinc finger protein 136 (ZNF136), mRNA.							89	82	84					19																	12297911		2203	4300	6503	SO:0001587	stop_gained	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297911C>T	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.718C>T	19.37:g.12297911C>T	ENSP00000344162:p.Arg240*		Somatic				ZNF136_uc010xmh.2_Nonsense_Mutation_p.R174*	p.R240*	NM_003437	NP_003428	WXS	Illumina GAIIx	Phase_I	P52737	ZN136_HUMAN			3	865	+			240						Nonsense_Mutation	SNP	ENST00000343979.4	37	c.718C>T	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318385	0.95682	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.37	0.203	0.15195	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.495	0.07651	0.2898:0.4234:0.2868:0.0	.	.	.	.	X	240;174	.	.	R	+	1	2	ZNF136	12158911	.	.	0.011000	0.14972	0.998000	0.95712	.	.	0.117000	0.18138	0.650000	0.86243	CGA		0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		28	35	0	0	0	1	0	28	35					T	12297911	C	T	12297911	4	4	277	1	0	0	0	0	0	1	0	0	17723	876	31	1	732	1	ZNF136	19	12297911	Nonsense_Mutation	SNP	C	TCGA-EM-A3FM-01A-11D-A21A-08		12297911	46831072	20	4845											
ZNF341	84905	broad.mit.edu	37	20	32336877	32336877	+	Splice_Site	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr20:32336877A>G	ENST00000375200.1	+	4	853	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	ZNF341_ENST00000342427.2_Splice_Site_p.Q163R	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	163	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						CCACCTGTGCAGGTAAGAAGG	0.557																																						uc002wzy.3																			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.e4+1		Homo sapiens zinc finger protein 341 (ZNF341), mRNA.							61	53	56					20																	32336877		2203	4300	6503	SO:0001630	splice_region_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32336877A>G	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.489+1A>G	20.37:g.32336877A>G			Somatic				ZNF341_uc002wzx.3_Splice_Site_p.Q163_splice|ZNF341_uc010geq.3_Splice_Site_p.Q73_splice|ZNF341_uc010ger.3_Splice_Site	p.Q163_splice	NM_032819	NP_116208	WXS	Illumina GAIIx	Phase_I	Q9BYN7	ZN341_HUMAN			4	509	+			163			Pro-rich.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Splice_Site	SNP	ENST00000375200.1	37	c.489_splice		.	.	.	.	.	.	.	.	.	.	A	24.8	4.569675	0.86439	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10288	3.13;2.89	5.83	4.67	0.58626	.	0.058627	0.64402	D	0.000001	T	0.22399	0.0540	L	0.58101	1.795	0.58432	D	0.999996	D;D;D	0.63880	0.993;0.986;0.992	P;P;P	0.57009	0.777;0.651;0.811	T	0.00412	-1.1755	10	0.44086	T	0.13	-25.2078	12.7153	0.57111	0.8628:0.1372:0.0:0.0	.	104;163;163	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	R	163	ENSP00000344308:Q163R;ENSP00000364346:Q163R	ENSP00000344308:Q163R	Q	+	2	0	ZNF341	31800538	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.566000	0.73978	2.228000	0.72767	0.528000	0.53228	CAG		0.557	ZNF341-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	3	66	0	0	0	1	0	3	66					G	32336877	A	G	32336877	5	3	277	1	0	0	0	0	0	0	1	0	17854	202	7	3	502	3	ZNF341	20	32336877	Splice_Site	SNP	A	TCGA-EM-A3FM-01A-11D-A21A-08		32336877	30688643	21	4846											
OR5K1	26339	broad.mit.edu	37	3	98189173	98189173	+	Missense_Mutation	SNP	C	C	A	rs200710580		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98189173C>A	ENST00000332650.5	+	1	850	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	251						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(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCATTATTCTATGGATCTC	0.343																																						uc003dsm.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(751-753)ttC>ttA		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.							94	97	96					3																	98189173		2182	4293	6475	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189173C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.753C>A	3.37:g.98189173C>A	ENSP00000373193:p.Phe251Leu		Somatic					p.F251L	NM_001004736	NP_001004736	WXS	Illumina GAIIx	Phase_I	Q8NHB7	OR5K1_HUMAN			0	753	+			251					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.753C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296066	0.40594	.	.	ENSG00000232382	ENST00000332650	T	0.00285	8.3	4.56	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000601	T	0.00300	0.0009	M	0.71296	2.17	0.23758	N	0.996922	B	0.21753	0.06	B	0.34385	0.181	T	0.28299	-1.0048	10	0.54805	T	0.06	-10.4101	7.1147	0.25411	0.0:0.799:0.0:0.201	.	251	Q8NHB7	OR5K1_HUMAN	L	251	ENSP00000373193:F251L	ENSP00000373193:F251L	F	+	3	2	OR5K1	99671863	0.000000	0.05858	1.000000	0.80357	0.859000	0.49053	0.059000	0.14322	1.123000	0.41961	0.563000	0.77884	TTC		0.343	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			13	36	0	0	0	1	0	13	36					A	98189173	C	A	98189173	3	1	278	1	0	0	0	0	1	0	0	0	11166	912	32	4	755	4	OR5K1	3	98189173	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		98189173	99833257	1	4847											
CPOX	1371	broad.mit.edu	37	3	98304370	98304370	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr3:98304370G>T	ENST00000264193.2	-	5	1305	c.1087C>A	c.(1087-1089)Cct>Act	p.P363T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	363					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATGTAAGAAGGAACTACAGCC	0.507																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	uc003dsx.3																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1087-1089)Cct>Act		Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.							165	172	169					3																	98304370		2203	4300	6503	SO:0001583	missense	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304370G>T	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"coproporphyria"	612732	"coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1087C>A	3.37:g.98304370G>T	ENSP00000264193:p.Pro363Thr		Somatic					p.P363T	NM_000097	NP_000088	WXS	Illumina GAIIx	Phase_I	P36551	HEM6_HUMAN			4	1194	-			363					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	ENST00000264193.2	37	c.1087C>A	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730630	0.89390	.	.	ENSG00000080819	ENST00000264193	D	0.93189	-3.18	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97289	0.9923	9	.	.	.	-15.8654	17.776	0.88508	0.0:0.0:1.0:0.0	.	363	P36551	HEM6_HUMAN	T	363	ENSP00000264193:P363T	.	P	-	1	0	CPOX	99787060	1.000000	0.71417	0.960000	0.40013	0.953000	0.61014	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	CCT		0.507	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		13	208	0	0	0	1	0	13	208					T	98304370	G	T	98304370	3	4	278	1	0	0	0	0	1	0	0	0	3821	1174	41	4	289	4	CPOX	3	98304370	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	115197	98304370	99718060	2	4848											
RASGEF1B	153020	broad.mit.edu	37	4	82366917	82366917	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr4:82366917C>A	ENST00000264400.2	-	7	956	c.805G>T	c.(805-807)Gtt>Ttt	p.V269F	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V227F|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.V268F	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	269	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCTGTAGCAACCAAGTAGCTG	0.363																																						uc003hmi.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(805-807)Gtt>Ttt		Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.							90	88	88					4																	82366917		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82366917C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.805G>T	4.37:g.82366917C>A	ENSP00000264400:p.Val269Phe		Somatic				RASGEF1B_uc003hmj.1_Missense_Mutation_p.V268F|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V227F	p.V269F	NM_152545	NP_689758	WXS	Illumina GAIIx	Phase_I	Q0VAM2	RGF1B_HUMAN			6	949	-			269			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.805G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919509	0.92249	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.985;0.995	T	0.80808	-0.1217	10	0.45353	T	0.12	.	18.7367	0.91757	0.0:1.0:0.0:0.0	.	227;268;269	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	F	268;269;227;114	ENSP00000425393:V268F;ENSP00000264400:V269F;ENSP00000338437:V227F;ENSP00000426929:V114F	ENSP00000264400:V269F	V	-	1	0	RASGEF1B	82585941	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.320000	0.79064	2.745000	0.94114	0.655000	0.94253	GTT		0.363	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		4	44	0	0	0	1	0	4	44					A	82366917	C	A	82366917	3	1	278	1	0	0	0	0	1	0	0	0	13070	507	18	4	648	4	RASGEF1B	4	82366917	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		82366917	108787359	3	4849											
SYTL3	94120	broad.mit.edu	37	6	159184419	159184419	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr6:159184419C>G	ENST00000297239.9	+	16	1795	c.1601C>G	c.(1600-1602)tCa>tGa	p.S534*	MIR3918_ENST00000581555.1_RNA|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.S466*|SYTL3_ENST00000367081.3_Nonsense_Mutation_p.S260*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	534	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		TGGAAACACTCATTTGTCTTC	0.527																																						uc003qrp.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1600-1602)tCa>tGa		Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.							113	104	107					6																	159184419		2203	4300	6503	SO:0001587	stop_gained	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159184419C>G	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1601C>G	6.37:g.159184419C>G	ENSP00000297239:p.Ser534*		Somatic				SYTL3_uc003qrr.3_Nonsense_Mutation_p.S534*|SYTL3_uc003qro.3_Nonsense_Mutation_p.S466*|SYTL3_uc003qrs.3_Nonsense_Mutation_p.S466*|SYTL3_uc011efq.2_Nonsense_Mutation_p.S260*	p.S534*	NM_001242384	NP_001229313	WXS	Illumina GAIIx	Phase_I	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	17	2000	+		Breast(66;0.000776)|Ovarian(120;0.0303)	534			C2 2.		Q496J4|Q496J6|Q5U3B9	Nonsense_Mutation	SNP	ENST00000297239.9	37	c.1601C>G	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158975	0.98103	.	.	ENSG00000164674	ENST00000360448;ENST00000297239;ENST00000367081	.	.	.	5.29	4.36	0.52297	.	0.000000	0.45361	D	0.000361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.3329	0.15942	0.0:0.6637:0.2076:0.1287	.	.	.	.	X	466;534;260	.	ENSP00000297239:S534X	S	+	2	0	SYTL3	159104407	1.000000	0.71417	0.996000	0.52242	0.702000	0.40608	1.971000	0.40530	2.625000	0.88918	0.557000	0.71058	TCA		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			35	65	0	0	0	1	0	35	65					G	159184419	C	G	159184419	4	3	278	1	0	0	0	0	0	1	0	0	15481	838	29	4	1443	4	SYTL3	6	159184419	Nonsense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		159184419	11930648	4	4850											
ACTB	60	broad.mit.edu	37	7	5568116	5568116	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:5568116A>C	ENST00000331789.5	-	4	789	c.598T>G	c.(598-600)Ttc>Gtc	p.F200V	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	200					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)		GTGGTGGTGAAGCTGTAGCCG	0.622																																						uc003sot.4																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(598-600)Ttc>Gtc		Homo sapiens actin, beta (ACTB), mRNA.							59	59	59					7																	5568116		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	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568116A>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.598T>G	7.37:g.5568116A>C	ENSP00000349960:p.Phe200Val		Somatic				ACTB_uc003sor.4_Missense_Mutation_p.F78V|ACTB_uc003soq.4_Missense_Mutation_p.F78V	p.F200V	NM_001101	NP_001092	WXS	Illumina GAIIx	Phase_I	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	682	-		Ovarian(82;0.0606)	200					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.598T>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516425	0.64634	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94758	-3.51	5.55	5.55	0.83447	.	0.092093	0.46758	D	0.000278	D	0.98115	0.9378	M	0.93241	3.395	0.52099	D	0.999949	P	0.36249	0.545	D	0.66602	0.945	D	0.98784	1.0733	10	0.87932	D	0	.	13.6936	0.62564	1.0:0.0:0.0:0.0	.	200	P60709	ACTB_HUMAN	V	200;176;172;119	ENSP00000349960:F200V	ENSP00000440549:F119V	F	-	1	0	ACTB	5534642	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.991000	0.93514	2.114000	0.64651	0.529000	0.55759	TTC		0.622	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		43	55	0	0	0	1	0	43	55					C	5568116	A	C	5568116	3	2	278	1	0	0	0	0	1	0	0	0	193	72	3	5	541	5	ACTB	7	5568116	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08		5568116	153570547	5	4851											
HDAC9	9734	broad.mit.edu	37	7	18688246	18688246	+	Silent	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:18688246G>A	ENST00000432645.2	+	10	1398	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	HDAC9_ENST00000428307.2_Silent_p.Q422Q|HDAC9_ENST00000417496.2_Silent_p.Q464Q|HDAC9_ENST00000406072.1_Silent_p.Q453Q|HDAC9_ENST00000441542.2_Silent_p.Q469Q|HDAC9_ENST00000524023.1_Silent_p.Q389Q|HDAC9_ENST00000401921.1_Silent_p.Q425Q|HDAC9_ENST00000405010.3_Silent_p.Q466Q|HDAC9_ENST00000406451.4_Silent_p.Q466Q|HDAC9_ENST00000456174.2_Silent_p.Q438Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	466					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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 deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCATTCAACAGCAACACCAGC	0.507																																						uc003sui.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1405-1407)caG>caA		Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	Valproic Acid(DB00313)						55	57	56					7																	18688246		2058	4192	6250	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688246G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1398G>A	7.37:g.18688246G>A			Somatic				HDAC9_uc003sue.3_Silent_p.Q466Q|HDAC9_uc011jyd.2_Silent_p.Q466Q|HDAC9_uc003suh.3_Silent_p.Q466Q|HDAC9_uc003suj.3_Silent_p.Q425Q|HDAC9_uc011jya.2_Silent_p.Q464Q|HDAC9_uc003sua.1_Silent_p.Q444Q|HDAC9_uc003sud.2_Silent_p.Q466Q|HDAC9_uc011jyc.2_Silent_p.Q425Q|HDAC9_uc011jyb.2_Silent_p.Q422Q|HDAC9_uc003suf.2_Silent_p.Q497Q|HDAC9_uc010kud.2_Silent_p.Q469Q|HDAC9_uc011jye.2_Silent_p.Q438Q|HDAC9_uc011jyf.2_Silent_p.Q389Q|HDAC9_uc010kue.1_Silent_p.Q209Q	p.Q469Q	NM_178425	NP_848512	WXS	Illumina GAIIx	Phase_I	Q9UKV0	HDAC9_HUMAN			9	1448	+	all_lung(11;0.187)		466					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1407G>A	CCDS47555.1																																																																																				0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			3	80	0	0	0	1	0	3	80					A	18688246	G	A	18688246	2	1	278	1	0	0	0	0	0	0	0	1	7014	962	34	2		2	HDAC9	7	18688246	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	13120130	18688246	140450417	6	4852											
SLC25A13	10165	broad.mit.edu	37	7	95822462	95822462	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr7:95822462C>T	ENST00000265631.5	-	6	638	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	SLC25A13_ENST00000542654.1_Missense_Mutation_p.V60M|SLC25A13_ENST00000416240.2_Missense_Mutation_p.V168M			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCCCGTTGCACAAAGGCTTGC	0.413																																						uc003uog.4																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(502-504)Gtg>Atg		Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Aspartic Acid(DB00128)						148	131	137					7																	95822462		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding	g.chr7:95822462C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.502G>A	7.37:g.95822462C>T	ENSP00000265631:p.Val168Met		Somatic				SLC25A13_uc003uof.4_Missense_Mutation_p.V168M|SLC25A13_uc011kik.2_Missense_Mutation_p.V60M	p.V168M	NM_001160210	NP_001153682	WXS	Illumina GAIIx	Phase_I	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		5	693	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		168			EF-hand 4.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.502G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362202	0.41902	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79454	-1.27;-1.27;-1.27	5.09	4.21	0.49690	EF-hand-like domain (1);	0.147388	0.44902	N	0.000408	T	0.70587	0.3241	L	0.44542	1.39	0.37895	D	0.93083	B;B;B	0.22211	0.027;0.066;0.066	B;B;B	0.23018	0.043;0.028;0.028	T	0.70037	-0.4982	10	0.36615	T	0.2	-9.3365	13.9251	0.63958	0.0:0.9266:0.0:0.0733	.	60;168;168	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	M	168;168;60	ENSP00000265631:V168M;ENSP00000400101:V168M;ENSP00000440484:V60M	ENSP00000265631:V168M	V	-	1	0	SLC25A13	95660398	0.994000	0.37717	1.000000	0.80357	0.905000	0.53344	1.092000	0.30927	1.513000	0.48852	0.563000	0.77884	GTG		0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		37	55	0	0	0	1	0	37	55					T	95822462	C	T	95822462	3	4	278	1	0	0	0	0	1	0	0	0	14475	478	17	2	1580	2	SLC25A13	7	95822462	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08	77134216	95822462	63316201	7	4853											
COL14A1	7373	broad.mit.edu	37	8	121238917	121238917	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr8:121238917G>A	ENST00000297848.3	+	16	2186	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	COL14A1_ENST00000309791.4_Missense_Mutation_p.S639N|COL14A1_ENST00000247781.3_Missense_Mutation_p.S544N|COL14A1_ENST00000537875.1_3'UTR|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)			ACGACAGACAGTTTTAGGGTG	0.473																																						uc003yox.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.(1915-1917)aGt>aAt		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							96	87	90					8																	121238917		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.chr8:121238917G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1916G>A	8.37:g.121238917G>A	ENSP00000297848:p.Ser639Asn		Somatic				COL14A1_uc003yoy.3_Missense_Mutation_p.S317N	p.S639N	NM_021110	NP_066933	WXS	Illumina GAIIx	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2181	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		639			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1916G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876382	0.51801	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179154	0.64402	D	0.000015	T	0.64627	0.2615	M	0.81497	2.545	0.80722	D	1	B;B	0.15473	0.003;0.013	B;B	0.15870	0.014;0.01	T	0.64702	-0.6345	10	0.66056	D	0.02	.	12.5536	0.56240	0.0803:0.0:0.9197:0.0	.	639;639	Q05707-2;Q05707	.;COEA1_HUMAN	N	639;639;544;452	ENSP00000311809:S639N;ENSP00000297848:S639N;ENSP00000247781:S544N;ENSP00000409461:S452N	ENSP00000247781:S544N	S	+	2	0	COL14A1	121308098	1.000000	0.71417	0.181000	0.23098	0.985000	0.73830	5.769000	0.68865	2.652000	0.90054	0.557000	0.71058	AGT		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		3	57	0	0	0	1	0	3	57					A	121238917	G	A	121238917	3	1	278	1	0	0	0	0	1	0	0	0	3671	1029	36	2	1974	2	COL14A1	8	121238917	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		121238917	25125105	8	4854											
NDUFA9	4704	broad.mit.edu	37	12	4791380	4791380	+	Silent	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:4791380G>A	ENST00000266544.5	+	9	830	c.810G>A	c.(808-810)cgG>cgA	p.R270R	NDUFA9_ENST00000540688.1_5'Flank|RP11-234B24.6_ENST00000544741.2_Silent_p.R29R	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	270					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)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTCCCAGTCGGTACCTCCTTT	0.398																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.3																			0		p.R270L(1)|p.R270Q(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(808-810)cgG>cgA		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						249	218	229					12																	4791380		2203	4300	6503	SO:0001819	synonymous_variant	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4791380G>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"Mitochondrial respiratory chain complex / Complex I", "Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	7693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 22E, member 1", "complex I 39kDa subunit"	603834	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.810G>A	12.37:g.4791380G>A			Somatic				NDUFA9_uc010ses.2_Silent_p.R51R	p.R270R	NM_005002	NP_004993	WXS	Illumina GAIIx	Phase_I	Q16795	NDUA9_HUMAN			8	839	+			270					Q14076|Q2NKX0	Silent	SNP	ENST00000266544.5	37	c.810G>A	CCDS8532.1																																																																																				0.398	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		4	152	0	0	0	1	0	4	152					A	4791380	G	A	4791380	2	1	278	1	0	0	0	0	0	0	0	1	10272	1248	44	2		2	NDUFA9	12	4791380	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		4791380	129060515	9	4855											
SP1	6667	broad.mit.edu	37	12	53804795	53804795	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr12:53804795A>G	ENST00000327443.4	+	6	2227	c.2129A>G	c.(2128-2130)aAt>aGt	p.N710S	SP1_ENST00000426431.2_Missense_Mutation_p.N703S	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	710	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|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)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACCCACCAGAATAAGAAGGGA	0.532																																						uc001scw.3																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2128-2130)aAt>aGt		Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.							140	145	143					12																	53804795		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804795A>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2129A>G	12.37:g.53804795A>G	ENSP00000329357:p.Asn710Ser		Somatic				SP1_uc021qyf.1_Missense_Mutation_p.N662S|SP1_uc010sog.2_Missense_Mutation_p.N703S	p.N710S	NM_138473	NP_612482	WXS	Illumina GAIIx	Phase_I	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	5	2226	+			710			Domain D.|VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.2129A>G	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967944	0.53507	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08984	3.05;3.03	4.92	4.92	0.64577	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.07369	0.0186	N	0.22421	0.69	0.58432	D	0.999996	P	0.42692	0.787	B	0.39805	0.31	T	0.32534	-0.9903	10	0.46703	T	0.11	.	13.9824	0.64313	1.0:0.0:0.0:0.0	.	710	P08047	SP1_HUMAN	S	710;703	ENSP00000329357:N710S;ENSP00000404263:N703S	ENSP00000329357:N710S	N	+	2	0	SP1	52091062	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.861000	0.69553	2.204000	0.70986	0.383000	0.25322	AAT		0.532	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			7	65	0	0	0	1	0	7	65					G	53804795	A	G	53804795	3	3	278	1	0	0	0	0	1	0	0	0	14959	101	4	3	2151	3	SP1	12	53804795	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08	49013415	53804795	80047100	10	4856											
OR5AU1	390445	broad.mit.edu	37	14	21623307	21623307	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:21623307G>A	ENST00000304418.3	-	1	915	c.878C>T	c.(877-879)gCa>gTa	p.A293V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GAGGTGGGATGCACAGGTGGA	0.522																																						uc010tlp.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(877-879)gCa>gTa		Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.							168	137	147					14																	21623307		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623307G>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.878C>T	14.37:g.21623307G>A	ENSP00000302057:p.Ala293Val		Somatic					p.A293V	NM_001004731	NP_001004731	WXS	Illumina GAIIx	Phase_I	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	0	878	-	all_cancers(95;0.00238)		293					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.878C>T	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733920	0.69189	.	.	ENSG00000169327	ENST00000304418	T	0.38560	1.13	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59183	0.2175	M	0.61703	1.905	0.31404	N	0.676262	D	0.56746	0.977	P	0.62560	0.904	T	0.64516	-0.6389	9	0.66056	D	0.02	.	14.7151	0.69262	0.0:0.0:1.0:0.0	.	293	Q8NGC0	O5AU1_HUMAN	V	293	ENSP00000302057:A293V	ENSP00000302057:A293V	A	-	2	0	OR5AU1	20693147	0.120000	0.22244	0.991000	0.47740	0.927000	0.56198	1.144000	0.31565	2.323000	0.78572	0.491000	0.48974	GCA		0.522	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			3	53	0	0	0	1	0	3	53					A	21623307	G	A	21623307	3	1	278	1	0	0	0	0	1	0	0	0	11147	1319	46	2	213	2	OR5AU1	14	21623307	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		21623307	85726233	11	4857											
CMA1	1215	broad.mit.edu	37	14	24976707	24976707	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:24976707T>C	ENST00000250378.3	-	2	93	c.64A>G	c.(64-66)Atc>Gtc	p.I22V	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	22	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCCCCGATGATCTCCCCTGGA	0.507																																						uc001wpp.1																			0		p.E21D(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(64-66)Atc>Gtc		Homo sapiens chymase 1, mast cell (CMA1), mRNA.							105	98	100					14																	24976707		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976707T>C		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.64A>G	14.37:g.24976707T>C	ENSP00000250378:p.Ile22Val		Somatic				CMA1_uc010alx.1_Intron	p.I22V	NM_001836	NP_001827	WXS	Illumina GAIIx	Phase_I	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	1	94	-			22			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.64A>G	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.538545	0.65085	.	.	ENSG00000092009	ENST00000250378	T	0.64618	-0.11	5.01	3.87	0.44632	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.120245	0.37483	N	0.002067	T	0.52629	0.1746	L	0.39147	1.195	0.80722	D	1	B	0.25048	0.117	B	0.31812	0.136	T	0.53344	-0.8452	10	0.72032	D	0.01	.	7.3823	0.26862	0.0:0.0973:0.0:0.9027	.	22	P23946	CMA1_HUMAN	V	22	ENSP00000250378:I22V	ENSP00000250378:I22V	I	-	1	0	CMA1	24046547	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	2.602000	0.46257	1.051000	0.40369	0.533000	0.62120	ATC		0.507	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			5	203	0	0	0	1	0	5	203					C	24976707	T	C	24976707	3	2	278	1	0	0	0	0	1	0	0	0	3574	1435	50	3	695	3	CMA1	14	24976707	Missense_Mutation	SNP	T	TCGA-EM-A3FN-01A-11D-A21A-08	3353400	24976707	82372833	12	4858											
ADCK1	57143	broad.mit.edu	37	14	78365449	78365449	+	Missense_Mutation	SNP	G	G	C	rs373401592		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr14:78365449G>C	ENST00000238561.5	+	6	688	c.589G>C	c.(589-591)Gtt>Ctt	p.V197L	ADCK1_ENST00000341211.5_Missense_Mutation_p.V129L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	204	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCAGGTGCTCGTTCTGGCTGT	0.507																																						uc001xui.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(589-591)Gtt>Ctt		Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.							199	173	182					14																	78365449		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78365449G>C	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.589G>C	14.37:g.78365449G>C	ENSP00000238561:p.Val197Leu		Somatic				ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.V129L|ADCK1_uc001xuk.1_Missense_Mutation_p.V71L	p.V197L	NM_020421	NP_065154	WXS	Illumina GAIIx	Phase_I	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	5	688	+			204			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.589G>C	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219074	0.22373	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.52754	0.65;0.65;0.65	5.53	3.59	0.41128	.	0.197485	0.41500	D	0.000864	T	0.28797	0.0714	N	0.16016	0.355	0.27913	N	0.938543	B;B	0.21381	0.055;0.045	B;B	0.31442	0.13;0.128	T	0.26467	-1.0102	10	0.12430	T	0.62	-6.4366	8.7298	0.34491	0.1542:0.2186:0.6272:0.0	.	129;197	Q9UIE6;Q86TW2-2	.;.	L	197;197;129	ENSP00000238561:V197L;ENSP00000451549:V197L;ENSP00000339663:V129L	ENSP00000238561:V197L	V	+	1	0	ADCK1	77435202	0.585000	0.26774	0.907000	0.35723	0.702000	0.40608	0.919000	0.28692	0.711000	0.32018	-1.094000	0.02160	GTT		0.507	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		48	117	0	0	0	1	0	48	117					C	78365449	G	C	78365449	3	2	278	1	0	0	0	0	1	0	0	0	288	1145	40	4	607	4	ADCK1	14	78365449	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	53388742	78365449	28984091	13	4859											
TP53BP1	7158	broad.mit.edu	37	15	43712831	43712831	+	Silent	SNP	G	G	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr15:43712831G>T	ENST00000263801.3	-	21	4590	c.4338C>A	c.(4336-4338)tcC>tcA	p.S1446S	TP53BP1_ENST00000382044.4_Silent_p.S1451S|TP53BP1_ENST00000450115.2_Silent_p.S1451S|TP53BP1_ENST00000382039.3_Silent_p.S1401S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1446					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCGTCTGGTGGAGTCTGGCA	0.542								Other conserved DNA damage response genes																														uc001zrr.4																			0		p.D1451Y(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4351-4353)tcC>tcA	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 1, mRNA.							64	62	62					15																	43712831		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding	g.chr15:43712831G>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4338C>A	15.37:g.43712831G>T			Somatic				TP53BP1_uc010udp.2_Silent_p.S1446S|TP53BP1_uc001zrq.4_Silent_p.S1451S|TP53BP1_uc001zrs.3_Silent_p.S1446S|TP53BP1_uc010udq.1_Silent_p.S1451S	p.S1451S	NM_001141980	NP_005648	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	20	4466	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1446					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.4353C>A	CCDS10096.1																																																																																				0.542	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			41	55	0	0	0	1	0	41	55					T	43712831	G	T	43712831	2	4	278	1	0	0	0	0	0	0	0	1	16380	1335	47	4		4	TP53BP1	15	43712831	Silent	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08		43712831	58818561	14	4860											
PRPF8	10594	broad.mit.edu	37	17	1579616	1579616	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr17:1579616T>C	ENST00000572621.1	-	16	2702	c.2437A>G	c.(2437-2439)Aca>Gca	p.T813A	PRPF8_ENST00000304992.6_Missense_Mutation_p.T813A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	813	Reverse transcriptase 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)		CAATGCACTGTGGTGGTATAT	0.537																																						uc002fte.3																			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.(2437-2439)Aca>Gca		Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.							113	106	108					17																	1579616		2203	4300	6503	SO:0001583	missense	10594					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	g.chr17:1579616T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2437A>G	17.37:g.1579616T>C	ENSP00000460348:p.Thr813Ala		Somatic					p.T813A	NM_006445	NP_006436	WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	16	2551	-			813					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2437A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890785	0.72524	.	.	ENSG00000174231	ENST00000304992	T	0.80214	-1.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	L	0.41710	1.295	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.68131	-0.5490	10	0.26408	T	0.33	-0.0232	16.8061	0.85666	0.0:0.0:0.0:1.0	.	813	Q6P2Q9	PRP8_HUMAN	A	813	ENSP00000304350:T813A	ENSP00000304350:T813A	T	-	1	0	PRPF8	1526366	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.013000	0.88655	2.367000	0.80283	0.528000	0.53228	ACA		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			8	114	0	0	0	1	0	8	114					C	1579616	T	C	1579616	3	2	278	1	0	0	0	0	1	0	0	0	12575	1696	59	3	4678	3	PRPF8	17	1579616	Missense_Mutation	SNP	T	TCGA-EM-A3FN-01A-11D-A21A-08		1579616	79615594	15	4861											
COL5A3	50509	broad.mit.edu	37	19	10071487	10071487	+	Missense_Mutation	SNP	C	C	T	rs371310005		TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr19:10071487C>T	ENST00000264828.3	-	66	5016	c.4931G>A	c.(4930-4932)cGc>cAc	p.R1644H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1644	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAAGTTCTGGCGAGCTGTGGC	0.607																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4930-4932)cGc>cAc		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92	81	85		4931	-3.0	0.0	19		85	0,8600		0,0,4300	no	missense	COL5A3	NM_015719.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1644/1746	10071487	1,13005	2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071487C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4931G>A	19.37:g.10071487C>T	ENSP00000264828:p.Arg1644His		Somatic					p.R1644H	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		65	5017	-			1644			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4931G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	0.485	-0.877898	0.02550	2.27E-4	0.0	ENSG00000080573	ENST00000264828	T	0.73681	-0.77	4.03	-2.95	0.05564	Fibrillar collagen, C-terminal (4);	0.747869	0.12083	N	0.501168	T	0.52256	0.1723	N	0.12920	0.275	0.20563	N	0.999889	B	0.06786	0.001	B	0.08055	0.003	T	0.34453	-0.9828	10	0.30854	T	0.27	.	9.8885	0.41276	0.0:0.3105:0.0:0.6895	.	1644	P25940	CO5A3_HUMAN	H	1644	ENSP00000264828:R1644H	ENSP00000264828:R1644H	R	-	2	0	COL5A3	9932487	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	-2.222000	0.01215	-0.351000	0.08249	0.462000	0.41574	CGC		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	84	0	0	0	1	0	4	84					T	10071487	C	T	10071487	3	4	278	1	0	0	0	0	1	0	0	0	3698	768	27	1	314	1	COL5A3	19	10071487	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		10071487	49057496	16	4862											
AVP	551	broad.mit.edu	37	20	3065238	3065238	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr20:3065238C>T	ENST00000380293.3	-	1	132	c.83G>A	c.(82-84)gGc>gAc	p.G28D		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	28					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CCTCTTGCCGCCCCTCGGGCA	0.647																																						uc002whu.3																			0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(82-84)gGc>gAc		Homo sapiens arginine vasopressin (AVP), mRNA.							118	110	113					20																	3065238		2203	4300	6503	SO:0001583	missense	551				ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity	g.chr20:3065238C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"Endogenous ligands"	894	protein-coding gene	gene with protein product	"antidiuretic hormone", "neurophysin II", "diabetes insipidus", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II"	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.83G>A	20.37:g.3065238C>T	ENSP00000369647:p.Gly28Asp		Somatic					p.G28D	NM_000490	NP_000481	WXS	Illumina GAIIx	Phase_I	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	0	133	-			28					A0AV35|O14935	Missense_Mutation	SNP	ENST00000380293.3	37	c.83G>A	CCDS13045.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445266	0.96187	.	.	ENSG00000101200	ENST00000380293	D	0.99901	-7.65	5.46	5.46	0.80206	Neurohypophysial hormone, conserved site (2);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96317	0.9233	10	0.87932	D	0	.	19.3138	0.94204	0.0:1.0:0.0:0.0	.	28	P01185	NEU2_HUMAN	D	28	ENSP00000369647:G28D	ENSP00000369647:G28D	G	-	2	0	AVP	3013238	1.000000	0.71417	0.458000	0.27068	0.973000	0.67179	5.855000	0.69510	2.561000	0.86390	0.655000	0.94253	GGC		0.647	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		7	195	0	0	0	1	0	7	195					T	3065238	C	T	3065238	3	4	278	1	0	0	0	0	1	0	0	0	1229	739	26	2	423	2	AVP	20	3065238	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		3065238	59960282	17	4863											
KRTAP12-3	386683	broad.mit.edu	37	21	46078031	46078031	+	Silent	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr21:46078031C>T	ENST00000397907.1	+	1	183	c.135C>T	c.(133-135)tgC>tgT	p.C45C	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	45	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCATTGTGTGCGTGGCTCCCT	0.642																																						uc002zft.3																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(133-135)tgC>tgT		Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.							95	108	104					21																	46078031		2190	4268	6458	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46078031C>T	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"Keratin associated proteins"	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.135C>T	21.37:g.46078031C>T			Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.C45C	NM_198697	NP_941970	WXS	Illumina GAIIx	Phase_I	P60328	KR123_HUMAN			0	183	+			45			14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.135C>T	CCDS42964.1																																																																																				0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			6	267	0	0	0	1	0	6	267					T	46078031	C	T	46078031	2	4	278	1	0	0	0	0	0	0	0	1	8520	776	27	1		1	KRTAP12-3	21	46078031	Silent	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		46078031	2051864	18	4864											
MOV10L1	54456	broad.mit.edu	37	22	50582545	50582545	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chr22:50582545A>G	ENST00000262794.5	+	18	2461	c.2378A>G	c.(2377-2379)gAc>gGc	p.D793G	MOV10L1_ENST00000540615.1_Missense_Mutation_p.D773G|MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D793G|MOV10L1_ENST00000395858.3_Missense_Mutation_p.D793G	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	793					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCCTTGCCGGACAGTCGGATT	0.562																																						uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2377-2379)gAc>gGc		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.							275	229	244					22																	50582545		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	g.chr22:50582545A>G	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2378A>G	22.37:g.50582545A>G	ENSP00000262794:p.Asp793Gly		Somatic				MOV10L1_uc003bjk.4_Missense_Mutation_p.D793G|MOV10L1_uc011arp.2_Missense_Mutation_p.D773G|MOV10L1_uc003bjl.3_5'Flank	p.D793G	NM_018995	NP_061868	WXS	Illumina GAIIx	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	17	2461	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	793					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2378A>G	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.531817	0.45073	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.82	5.82	0.92795	.	0.260360	0.50627	D	0.000115	T	0.67126	0.2860	N	0.04355	-0.22	0.80722	D	1	P;B;P	0.50443	0.935;0.238;0.619	B;B;B	0.44108	0.441;0.179;0.268	T	0.74959	-0.3486	10	0.52906	T	0.07	-38.612	16.1832	0.81925	1.0:0.0:0.0:0.0	.	773;793;793	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	G	793;793;793;773	ENSP00000438978:D793G;ENSP00000262794:D793G;ENSP00000379199:D793G;ENSP00000438542:D773G	ENSP00000262794:D793G	D	+	2	0	MOV10L1	48924672	1.000000	0.71417	0.988000	0.46212	0.975000	0.68041	3.415000	0.52700	2.218000	0.71995	0.533000	0.62120	GAC		0.562	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		78	158	0	0	0	1	0	78	158					G	50582545	A	G	50582545	3	3	278	1	0	0	0	0	1	0	0	0	9719	275	10	3	2489	3	MOV10L1	22	50582545	Missense_Mutation	SNP	A	TCGA-EM-A3FN-01A-11D-A21A-08		50582545	722021	19	4865											
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:20156735C>T	ENST00000379607.5	-	2	225	c.22G>A	c.(22-24)Gga>Aga	p.G8R	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	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																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Aga		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.							135	126	129					X																	20156735		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156735C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.22G>A	X.37:g.20156735C>T	ENSP00000368927:p.Gly8Arg		Somatic				SCARNA9L_uc010nfp.3_5'Flank	p.G8R	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			1	230	-			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	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	EIF1AX	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			30	67	0	0	0	1	0	30	67					T	20156735	C	T	20156735	3	4	278	1	0	0	0	0	1	0	0	0	4992	690	24	2	436	2	EIF1AX	23	20156735	Missense_Mutation	SNP	C	TCGA-EM-A3FN-01A-11D-A21A-08		20156735	135113825	20	4866											
ARX	170302	broad.mit.edu	37	X	25031220	25031220	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:25031220G>T	ENST00000379044.4	-	2	1102	c.892C>A	c.(892-894)Cac>Aac	p.H298N		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	298					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						TCTTCCGGGTGCAGCAGCAGC	0.697																																						uc004dbp.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(892-894)Cac>Aac		Homo sapiens aristaless related homeobox (ARX), mRNA.							24	18	20					X																	25031220		2202	4298	6500	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031220G>T	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"Homeoboxes / PRD class"	18060	protein-coding gene	gene with protein product	"cancer/testis antigen 121"	300382	"mental retardation, X-linked 54", "mental retardation, X-linked 43", "mental retardation, X-linked 36", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 38", "mental retardation, X-linked 87", "mental retardation, X-linked 76"	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.892C>A	X.37:g.25031220G>T	ENSP00000368332:p.His298Asn		Somatic					p.H298N	NM_139058	NP_620689	WXS	Illumina GAIIx	Phase_I	Q96QS3	ARX_HUMAN			1	1103	-			298						Missense_Mutation	SNP	ENST00000379044.4	37	c.892C>A	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	g	8.820	0.937385	0.18206	.	.	ENSG00000004848	ENST00000379044	D	0.89681	-2.55	3.83	3.83	0.44106	.	0.061246	0.64402	U	0.000006	T	0.79358	0.4432	N	0.12182	0.205	0.43021	D	0.994579	B	0.10296	0.003	B	0.01281	0.0	T	0.74121	-0.3767	10	0.33141	T	0.24	.	14.9697	0.71223	0.0:0.0:1.0:0.0	.	298	Q96QS3	ARX_HUMAN	N	298	ENSP00000368332:H298N	ENSP00000368332:H298N	H	-	1	0	ARX	24941141	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	4.243000	0.58721	1.518000	0.48934	0.141000	0.15989	CAC		0.697	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			6	12	0	0	0	1	0	6	12					T	25031220	G	T	25031220	3	4	278	1	0	0	0	0	1	0	0	0	1004	1319	46	4	812	4	ARX	23	25031220	Missense_Mutation	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	4874485	25031220	130239340	21	4867											
SATL1	340562	broad.mit.edu	37	X	84363501	84363501	+	5'UTR	SNP	G	G	A			TCGA-EM-A3FN-01A-11D-A21A-08	TCGA-EM-A3FN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d25bba0-29fc-4fe2-b891-d71fb3554dd3	03ff508f-ed60-4df8-9d9a-ca834a8b4073	g.chrX:84363501G>A	ENST00000395409.3	-	0	473				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Silent_p.T158T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTAATTGGCTGGTGCCTACTT	0.532											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(472-474)acC>acT		Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							252	152	183					X																	84363501		692	1591	2283	SO:0001623	5_prime_UTR_variant	340562						N-acetyltransferase activity	g.chrX:84363501G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-88C>T	X.37:g.84363501G>A			Somatic	OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228		p.T158T	NM_001012980	NP_001012998	WXS	Illumina GAIIx	Phase_I	Q86VE3	SATL1_HUMAN			0	474	-			214			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.474C>T																																																																																					0.532	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		3	81	0	0	0	1	0	3	81					A	84363501	G	A	84363501	1	1	278	0	1	0	0	0	0	0	0	0	13855	1335	47	2		2	SATL1	23	84363501	5'UTR	SNP	G	TCGA-EM-A3FN-01A-11D-A21A-08	59332281	84363501	70907059	22	4868											
PPM1J	333926	broad.mit.edu	37	1	113257891	113257892	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:113257891_113257892delGT	ENST00000309276.6	-	1	207_208	c.32_33delAC	c.(31-33)cacfs	p.H11fs	PPM1J_ENST00000464951.1_5'UTR|RP11-426L16.9_ENST00000566195.1_RNA|PPM1J_ENST00000359994.4_5'Flank	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	11					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)		AGCTCACCAGGTGCGCCACGGC	0.802																																						uc001ect.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(31-33)cacfs		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.																																				SO:0001589	frameshift_variant	333926							g.chr1:113257891_113257892delGT	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.32_33delAC	1.37:g.113257891_113257892delGT	ENSP00000308926:p.His11fs		Somatic				PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR	p.H11fs	NM_005167	NP_005158	WXS	Illumina GAIIx	Phase_I	Q5JR12	PPM1J_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)	0	59_60	-	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)	11					B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Frame_Shift_Del	DEL	ENST00000309276.6	37	c.32_33delAC	CCDS855.2																																																																																				0.802	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		3	4						3	4	---	---	---	---	-	113257892	GT	-	113257891	7	5	279	1	0	1	0	1	0	0	0	0	12342	1252	44	0	1524	0	PPM1J	1	113257891	Frame_Shift_Del	DEL	GT	TCGA-EM-A3FO-01A-11D-A21A-08		113257891	135992730	1	4869											
ATP8B2	89872	broad.mit.edu	37	1	154300618	154300618	+	IGR	SNP	A	A	T			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:154300618A>T	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000368487.3_Start_Codon_SNP_p.M1L|ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368489.3_Missense_Mutation_p.M34L	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGGGTGAGATGGCAGTGTG	0.552																																						uc001fex.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(100-102)Atg>Ttg		Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.							131	124	127					1																	154300618		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300618A>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300618A>T			Somatic				ATP8B2_uc001few.3_Missense_Mutation_p.M1L|ATP8B2_uc001fey.1_5'Flank	p.M34L	NM_020452	NP_065185	WXS	Illumina GAIIx	Phase_I	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	100	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		0					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.100A>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.590233	0.66105	.	.	ENSG00000143515	ENST00000368487;ENST00000368489	T;T	0.07567	3.82;3.18	4.84	4.84	0.62591	.	1.344360	0.04785	N	0.430573	T	0.05960	0.0155	.	.	.	0.80722	D	1	B;B	0.29805	0.04;0.257	B;P	0.44623	0.003;0.455	T	0.34004	-0.9846	9	0.16420	T	0.52	.	10.7989	0.46476	1.0:0.0:0.0:0.0	.	34;1	P98198-3;P98198-4	.;.	L	1;34	ENSP00000357472:M1L;ENSP00000357475:M34L	ENSP00000357472:M1L	M	+	1	0	ATP8B2	152567242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.743000	0.62110	1.803000	0.52742	0.374000	0.22700	ATG		0.552	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		6	134	0	0	0	1	0	6	134					T	154300618	A	T	154300618	1	4	279	0	1	0	0	0	0	0	0	0	1195	333	12	5		5	ATP8B2	1	154300618	IGR	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08	41042727	154300618	94950003	2	4870											
LMX1A	4009	broad.mit.edu	37	1	165322431	165322431	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr1:165322431G>A	ENST00000342310.3	-	3	527	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	LMX1A_ENST00000367893.4_Missense_Mutation_p.R49W|LMX1A_ENST00000294816.2_Missense_Mutation_p.R49W	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	49	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCGTTGAGCCGCAGCAGAAAC	0.607																																						uc001gcz.2																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(145-147)Cgg>Tgg		Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.							60	58	59					1																	165322431		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165322431G>A	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.145C>T	1.37:g.165322431G>A	ENSP00000340226:p.Arg49Trp		Somatic				LMX1A_uc021pdz.1_Missense_Mutation_p.R49W	p.R49W	NM_001174069	NP_796372	WXS	Illumina GAIIx	Phase_I	Q8TE12	LMX1A_HUMAN			2	339	-	all_hematologic(923;0.248)		49			LIM zinc-binding 1.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.145C>T	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941954	0.73557	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.88664	-2.41;-2.41;-2.41	5.56	3.64	0.41730	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92658	0.7667	M	0.83384	2.64	0.80722	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.93516	0.6857	9	0.87932	D	0	.	12.706	0.57061	0.0:0.0:0.5696:0.4304	.	49	Q8TE12	LMX1A_HUMAN	W	49	ENSP00000340226:R49W;ENSP00000294816:R49W;ENSP00000356868:R49W	ENSP00000294816:R49W	R	-	1	2	LMX1A	163589055	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.455000	0.21843	0.654000	0.30846	0.561000	0.74099	CGG		0.607	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		3	70	0	0	0	1	0	3	70					A	165322431	G	A	165322431	3	1	279	1	0	0	0	0	1	0	0	0	8861	1086	38	1	1031	1	LMX1A	1	165322431	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08	11021813	165322431	83928190	3	4871											
BAZ2B	29994	broad.mit.edu	37	2	160289578	160289578	+	Silent	SNP	A	A	G			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443																																						uc002uao.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1588-1590)ccT>ccC		Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.							185	168	174					2																	160289578		1871	4104	5975	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289578A>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1590T>C	2.37:g.160289578A>G			Somatic				BAZ2B_uc002uap.3_Silent_p.P528P|BAZ2B_uc002uas.1_Silent_p.P467P|BAZ2B_uc002uaq.1_Silent_p.P458P|BAZ2B_uc002uar.1_Silent_p.P103P	p.P530P	NM_013450	NP_038478	WXS	Illumina GAIIx	Phase_I	Q9UIF8	BAZ2B_HUMAN			8	1995	-			530		P -> L (in dbSNP:rs3732287).			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1590T>C	CCDS2209.2																																																																																				0.443	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	190	0	0	0	1	0	3	190					G	160289578	A	G	160289578	2	3	279	1	0	0	0	0	0	0	0	1	1332	59	3	3		3	BAZ2B	2	160289578	Silent	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		160289578	82909795	4	4872											
TACR3	6870	broad.mit.edu	37	4	104510921	104510921	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr4:104510921C>A	ENST00000304883.2	-	5	1456	c.1316G>T	c.(1315-1317)tGc>tTc	p.C439F	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	439				C -> F (in Ref. 3; CAA46291). {ECO:0000305}.	aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCTGCGAGAGCAGCCATTGAA	0.478																																						uc003hxe.1																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1315-1317)tGc>tTc		Homo sapiens tachykinin receptor 3 (TACR3), mRNA.							169	161	164					4																	104510921		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510921C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1316G>T	4.37:g.104510921C>A	ENSP00000303325:p.Cys439Phe		Somatic					p.C439F	NM_001059	NP_001050	WXS	Illumina GAIIx	Phase_I	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1457	-		Hepatocellular(203;0.217)	439	C -> F (in Ref. 3; CAA46291).				Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1316G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149785	0.37923	.	.	ENSG00000169836	ENST00000304883	T	0.64438	-0.1	5.54	4.69	0.59074	.	0.071033	0.64402	D	0.000013	T	0.69637	0.3133	M	0.73962	2.25	0.48236	D	0.999619	P	0.50710	0.938	P	0.49226	0.603	T	0.71984	-0.4427	10	0.41790	T	0.15	.	15.4754	0.75474	0.0:0.8611:0.1389:0.0	.	439	P29371	NK3R_HUMAN	F	439	ENSP00000303325:C439F	ENSP00000303325:C439F	C	-	2	0	TACR3	104730370	1.000000	0.71417	0.978000	0.43139	0.435000	0.31806	2.686000	0.46968	1.323000	0.45263	-0.274000	0.10170	TGC		0.478	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		4	174	0	0	0	1	0	4	174					A	104510921	C	A	104510921	3	1	279	1	0	0	0	0	1	0	0	0	15504	710	25	4	85	4	TACR3	4	104510921	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		104510921	86643355	5	4873											
ENPP1	5167	broad.mit.edu	37	6	132171140	132171140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr6:132171140C>A	ENST00000360971.2	+	3	344	c.324C>A	c.(322-324)tgC>tgA	p.C108*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	108	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTAAAAGTTGCAAAGGTCGCT	0.378																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(322-324)tgC>tgA		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	Amifostine(DB01143)|Ribavirin(DB00811)						115	110	112					6																	132171140		2203	4300	6503	SO:0001587	stop_gained	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132171140C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.324C>A	6.37:g.132171140C>A	ENSP00000354238:p.Cys108*		Somatic					p.C108*	NM_006208	NP_006199	WXS	Illumina GAIIx	Phase_I	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	2	344	+	Breast(56;0.0505)		108			SMB 1.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Nonsense_Mutation	SNP	ENST00000360971.2	37	c.324C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610107	0.87258	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.16	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2926	13.5748	0.61868	0.0:0.9183:0.0:0.0817	.	.	.	.	X	108	.	ENSP00000354238:C108X	C	+	3	2	ENPP1	132212833	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.836000	0.39191	2.563000	0.86464	0.650000	0.86243	TGC		0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			10	89	0	0	0	1	0	10	89					A	132171140	C	A	132171140	4	1	279	1	0	0	0	0	0	1	0	0	5129	718	25	4	334	4	ENPP1	6	132171140	Nonsense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		132171140	38943927	6	4874											
ZC3HC1	51530	broad.mit.edu	37	7	129666092	129666092	+	Silent	SNP	G	G	T			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr7:129666092G>T	ENST00000358303.4	-	6	766	c.682C>A	c.(682-684)Cga>Aga	p.R228R	ZC3HC1_ENST00000360708.5_Silent_p.R228R|RNA5SP245_ENST00000364239.1_RNA|RP11-306G20.1_ENST00000480018.1_RNA|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Silent_p.R207R|ZC3HC1_ENST00000481503.1_Silent_p.R228R	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	228					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCATCAGTTCGGTGATCAAGT	0.448																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.3																			0		p.H227R(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(682-684)Cga>Aga		Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.							202	170	181					7																	129666092		2203	4300	6503	SO:0001819	synonymous_variant	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129666092G>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.682C>A	7.37:g.129666092G>T			Somatic				ZC3HC1_uc010lma.3_Silent_p.R115R	p.R228R	NM_016478	NP_057562	WXS	Illumina GAIIx	Phase_I	Q86WB0	NIPA_HUMAN			5	709	-	Melanoma(18;0.0435)		228					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Silent	SNP	ENST00000358303.4	37	c.682C>A	CCDS34753.1																																																																																				0.448	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		3	75	0	0	0	1	0	3	75					T	129666092	G	T	129666092	2	4	279	1	0	0	0	0	0	0	0	1	17574	1124	39	4		4	ZC3HC1	7	129666092	Silent	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		129666092	29472571	7	4875											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	51	0	0	0	1	0	33	51					T	140453136	A	T	140453136	3	4	279	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08	10787044	140453136	18685527	8	4876											
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						uc010qvs.2																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly		Somatic				NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	p.E611G	NM_138329	NP_612202	WXS	Illumina GAIIx	Phase_I	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1832	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	184	0	0	0	1	0	4	184					G	281566	A	G	281566	3	3	279	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		281566	134724950	9	4877											
DYNC1H1	1778	broad.mit.edu	37	14	102484914	102484914	+	Silent	SNP	G	G	A	rs77113510	byFrequency	TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr14:102484914G>A	ENST00000360184.4	+	41	8468	c.8304G>A	c.(8302-8304)ccG>ccA	p.P2768P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2768	AAA 3. {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						ATGCAGAGCCGCTCACTGCTG	0.537													G|||	12	0.00239617	0.0045	0.0086	5008	,	,		22649	0		0	False		,,,				2504	0					uc001yks.2																			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.(8302-8304)ccG>ccA		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.		G		11,4395	17.9+/-39.9	0,11,2192	81	65	71		8304	-10.5	0.7	14	dbSNP_132	71	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	DYNC1H1	NM_001376.4		0,18,6485	AA,AG,GG		0.0814,0.2497,0.1384		2768/4647	102484914	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	1778				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102484914G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8304G>A	14.37:g.102484914G>A			Somatic				DYNC1H1_uc001ykt.1_Silent_p.P259P	p.P2768P	NM_001376	NP_001367	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			40	8468	+			2768			AAA 3 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.8304G>A	CCDS9966.1																																																																																				0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	57	0	0	0	1	0	3	57					A	102484914	G	A	102484914	2	1	279	1	0	0	0	0	0	0	0	1	4841	1074	38	1		1	DYNC1H1	14	102484914	Silent	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		102484914	4864626	10	4878											
PIK3R5	23533	broad.mit.edu	37	17	8809033	8809033	+	Missense_Mutation	SNP	C	C	T	rs376420068		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:8809033C>T	ENST00000447110.1	-	4	350	c.226G>A	c.(226-228)Gac>Aac	p.D76N	PIK3R5_ENST00000584803.1_Missense_Mutation_p.D76N|PIK3R5_ENST00000581552.1_Missense_Mutation_p.D76N	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	76	Heterodimerization. {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						GTGAGCAGGTCGTAGGTGCCC	0.602																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			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.(226-228)Gac>Aac		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.							61	47	52					17																	8809033		2202	4296	6498	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8809033C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.226G>A	17.37:g.8809033C>T	ENSP00000392812:p.Asp76Asn		Somatic				PIK3R5_uc010vuz.2_Missense_Mutation_p.D76N|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	p.D76N	NM_014308	NP_001238784	WXS	Illumina GAIIx	Phase_I	Q8WYR1	PI3R5_HUMAN			3	293	-			76			Heterodimerization (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.226G>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762466	0.31228	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.78707	-1.2;-1.2	5.47	4.49	0.54785	.	0.188106	0.47455	D	0.000223	T	0.77491	0.4138	L	0.29908	0.895	0.38902	D	0.957342	D	0.61697	0.99	P	0.59825	0.864	T	0.77638	-0.2513	10	0.42905	T	0.14	-31.2407	11.9924	0.53182	0.0:0.9187:0.0:0.0813	.	76	Q8WYR1	PI3R5_HUMAN	N	76	ENSP00000269300:D76N;ENSP00000392812:D76N	ENSP00000269300:D76N	D	-	1	0	PIK3R5	8749758	0.998000	0.40836	0.999000	0.59377	0.381000	0.30169	2.406000	0.44557	2.715000	0.92844	0.655000	0.94253	GAC		0.602	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		8	14	0	0	0	1	0	8	14					T	8809033	C	T	8809033	3	4	279	1	0	0	0	0	1	0	0	0	11922	884	31	1	2480	1	PIK3R5	17	8809033	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		8809033	72386177	11	4879											
ACACA	31	broad.mit.edu	37	17	35603828	35603828	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:35603828G>A	ENST00000394406.2	-	19	2453	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	ACACA_ENST00000360679.3_Missense_Mutation_p.R697C|ACACA_ENST00000353139.5_Missense_Mutation_p.R792C|ACACA_ENST00000335166.5_Missense_Mutation_p.R677C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	755	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGGTGAGCGCATCACCGAT	0.458																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hno.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2374-2376)Cgc>Tgc		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 1, mRNA.	Biotin(DB00121)						168	144	152					17																	35603828		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35603828G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2263C>T	17.37:g.35603828G>A	ENSP00000377928:p.Arg755Cys		Somatic				ACACA_uc002hnk.3_Missense_Mutation_p.R677C|ACACA_uc002hnl.3_Missense_Mutation_p.R697C|ACACA_uc002hnm.3_Missense_Mutation_p.R755C|ACACA_uc002hnn.3_Missense_Mutation_p.R755C|ACACA_uc010cuz.3_Missense_Mutation_p.R755C	p.R792C	NM_198834	NP_942135	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			18	2887	-		Breast(25;0.00157)|Ovarian(249;0.15)	755			Biotinyl-binding.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2374C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979138	0.53827	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.17	5.17	0.71159	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.050493	0.85682	D	0.000000	T	0.80670	0.4667	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;0.974;0.968	D;P;P	0.72982	0.979;0.802;0.651	D	0.84321	0.0516	10	0.66056	D	0.02	-4.9752	17.8286	0.88673	0.0:0.0:1.0:0.0	.	792;755;697	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	792;697;755;779;677	ENSP00000344789:R792C;ENSP00000353898:R697C;ENSP00000377928:R755C;ENSP00000335323:R677C	ENSP00000335323:R677C	R	-	1	0	ACACA	32677941	1.000000	0.71417	0.946000	0.38457	0.019000	0.09904	6.464000	0.73534	2.678000	0.91216	0.655000	0.94253	CGC		0.458	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		4	149	0	0	0	1	0	4	149					A	35603828	G	A	35603828	3	1	279	1	0	0	0	0	1	0	0	0	106	1087	38	1	4929	1	ACACA	17	35603828	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08	26794795	35603828	45591382	12	4880											
EPX	8288	broad.mit.edu	37	17	56274516	56274516	+	Missense_Mutation	SNP	C	C	T	rs116223936		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr17:56274516C>T	ENST00000225371.5	+	7	1128	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	340					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CATCAACCAGCGCTTTCAAGA	0.647													C|||	1	0.000199681	8e-04	0	5008	,	,		18034	0		0	False		,,,				2504	0					uc002ivq.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1018-1020)Cgc>Tgc		Homo sapiens eosinophil peroxidase (EPX), mRNA.		C	CYS/ARG	10,4396	16.8+/-37.8	0,10,2193	95	92	93		1018	3.9	0.0	17	dbSNP_132	93	0,8600		0,0,4300	yes	missense	EPX	NM_000502.4	180	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	340/716	56274516	10,12996	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274516C>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1018C>T	17.37:g.56274516C>T	ENSP00000225371:p.Arg340Cys		Somatic					p.R340C	NM_000502	NP_000493	WXS	Illumina GAIIx	Phase_I	P11678	PERE_HUMAN			6	1137	+			340					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1018C>T	CCDS11602.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.90	1.778051	0.31502	0.00227	0.0	ENSG00000121053	ENST00000225371	T	0.69306	-0.39	4.86	3.89	0.44902	.	0.873628	0.10583	N	0.657691	T	0.78136	0.4236	M	0.91090	3.175	0.09310	N	1	D	0.60160	0.987	P	0.51385	0.668	T	0.68573	-0.5373	10	0.87932	D	0	-1.4796	6.6492	0.22953	0.1756:0.7316:0.0:0.0928	.	340	P11678	PERE_HUMAN	C	340	ENSP00000225371:R340C	ENSP00000225371:R340C	R	+	1	0	EPX	53629515	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.067000	0.14510	1.174000	0.42811	0.462000	0.41574	CGC		0.647	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		12	139	0	0	0	1	0	12	139					T	56274516	C	T	56274516	3	4	279	1	0	0	0	0	1	0	0	0	5200	768	27	1	1044	1	EPX	17	56274516	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08	20670688	56274516	24920694	13	4881											
SERPINB2	5055	broad.mit.edu	37	18	61569116	61569116	+	Splice_Site	SNP	G	G	A	rs150189388		TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr18:61569116G>A	ENST00000299502.4	+	6	758	c.678G>A	c.(676-678)tcG>tcA	p.S226S	SERPINB2_ENST00000457692.1_Splice_Site_p.S226S|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	226					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GTGTAAACTCGGTATGAGACA	0.373																																						uc010xeu.2																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.e7+1		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	G	,	1,4405	2.1+/-5.4	0,1,2202	87	91	90		678,678	5.8	1.0	18	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	SERPINB2	NM_001143818.1,NM_002575.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	226/416,226/416	61569116	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569116G>A	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.678+1G>A	18.37:g.61569116G>A			Somatic				SERPINB2_uc002ljo.3_Splice_Site_p.S226_splice|SERPINB2_uc002ljp.1_Splice_Site_p.S31_splice|SERPINB2_uc002ljq.1_Splice_Site_p.S31_splice	p.S226_splice	NM_001143818	NP_002566	WXS	Illumina GAIIx	Phase_I	P05120	PAI2_HUMAN			7	1011	+		Esophageal squamous(42;0.131)	226					Q96E96	Splice_Site	SNP	ENST00000299502.4	37	c.678_splice	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472794	0.43942	2.27E-4	0.0	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72679	-0.4220	4	.	.	.	.	19.0295	0.92950	0.0:0.0:1.0:0.0	.	.	.	.	S	103	.	.	G	+	1	0	SERPINB10	59720096	1.000000	0.71417	0.966000	0.40874	0.814000	0.46013	6.594000	0.74104	2.751000	0.94390	0.650000	0.86243	GGC		0.373	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	Silent	6	95	0	0	0	1	0	6	95					A	61569116	G	A	61569116	5	1	279	1	0	0	0	0	0	0	1	0	14101	1130	39	1	696	1	SERPINB2	18	61569116	Splice_Site	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		61569116	16508132	14	4882											
ZNF468	90333	broad.mit.edu	37	19	53344535	53344535	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr19:53344535A>G	ENST00000595646.1	-	4	1132	c.1012T>C	c.(1012-1014)Tat>Cat	p.Y338H	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.Y285H|ZNF468_ENST00000396409.4_Missense_Mutation_p.Y285H			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	338					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)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TATGAATTATATGCGAAAGCC	0.368																																						uc002qaf.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(1012-1014)Tat>Cat		Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.							125	129	128					19																	53344535		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344535A>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1012T>C	19.37:g.53344535A>G	ENSP00000470381:p.Tyr338His		Somatic				ZNF468_uc002qae.3_Missense_Mutation_p.Y285H|ZNF468_uc021uzb.1_Missense_Mutation_p.Y285H	p.Y338H	NM_001008801	NP_954583	WXS	Illumina GAIIx	Phase_I	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	3	1163	-			338					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1012T>C	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.380680	0.00205	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.17528	2.27;2.27	1.99	-3.98	0.04082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	N	0.11789	0.175	0.09310	N	1	B	0.23377	0.084	B	0.21151	0.033	T	0.23726	-1.0180	9	0.21540	T	0.41	.	0.9882	0.01451	0.3155:0.2748:0.271:0.1387	.	338	Q5VIY5	ZN468_HUMAN	H	338;285;285;88	ENSP00000379690:Y285H;ENSP00000445669:Y285H	ENSP00000243639:Y338H	Y	-	1	0	ZNF468	58036347	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.687000	0.01927	-3.021000	0.00269	-1.713000	0.00713	TAT		0.368	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		3	161	0	0	0	1	0	3	161					G	53344535	A	G	53344535	3	3	279	1	0	0	0	0	1	0	0	0	17925	449	16	3	560	3	ZNF468	19	53344535	Missense_Mutation	SNP	A	TCGA-EM-A3FO-01A-11D-A21A-08		53344535	5784448	15	4883											
MAPRE1	22919	broad.mit.edu	37	20	31427653	31427653	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chr20:31427653G>T	ENST00000375571.5	+	5	727	c.588G>T	c.(586-588)ttG>ttT	p.L196F		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	196	EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAGCTGAGTTGATGCAGCAGG	0.587																																						uc002wyh.3																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(586-588)ttG>ttT		Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.							112	115	114					20																	31427653		2203	4300	6503	SO:0001583	missense	22919				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31427653G>T	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.588G>T	20.37:g.31427653G>T	ENSP00000364721:p.Leu196Phe		Somatic					p.L196F	NM_012325	NP_036457	WXS	Illumina GAIIx	Phase_I	Q15691	MARE1_HUMAN			4	727	+			196			EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.588G>T	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824247	0.50739	.	.	ENSG00000101367	ENST00000375571	T	0.59224	0.28	5.11	4.15	0.48705	EB1, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.62792	0.2457	M	0.91406	3.205	0.58432	D	0.999992	B	0.29531	0.247	B	0.28139	0.086	T	0.67503	-0.5654	10	0.62326	D	0.03	-5.4712	8.6764	0.34181	0.08:0.1523:0.7677:0.0	.	196	Q15691	MARE1_HUMAN	F	196	ENSP00000364721:L196F	ENSP00000364721:L196F	L	+	3	2	MAPRE1	30891314	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.081000	0.41596	1.521000	0.48983	0.655000	0.94253	TTG		0.587	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		4	183	0	0	0	1	0	4	183					T	31427653	G	T	31427653	3	4	279	1	0	0	0	0	1	0	0	0	9294	1281	45	4	602	4	MAPRE1	20	31427653	Missense_Mutation	SNP	G	TCGA-EM-A3FO-01A-11D-A21A-08		31427653	31597867	16	4884											
MBNL3	55796	broad.mit.edu	37	X	131525027	131525027	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FO-01A-11D-A21A-08	TCGA-EM-A3FO-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92	18fa7eb0-d944-41c3-8588-d94561887693	g.chrX:131525027C>T	ENST00000370853.3	-	4	697	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	MBNL3_ENST00000473364.1_5'UTR|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.E207K|MBNL3_ENST00000538204.1_Missense_Mutation_p.E157K|MBNL3_ENST00000370849.3_Missense_Mutation_p.E157K|MBNL3_ENST00000370839.3_Missense_Mutation_p.E207K|MBNL3_ENST00000370844.1_Missense_Mutation_p.E111K|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.E111K	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	207					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|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)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TCACTCGCTTCAATCATGGAA	0.468																																						uc004ewv.4																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(619-621)Gaa>Aaa		Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.							143	114	124					X																	131525027		2203	4300	6503	SO:0001583	missense	55796				RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131525027C>T	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.619G>A	X.37:g.131525027C>T	ENSP00000359890:p.Glu207Lys		Somatic				AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.E111K|MBNL3_uc004ewt.3_Missense_Mutation_p.E157K|MBNL3_uc004ewx.2_Missense_Mutation_p.E157K|MBNL3_uc011muz.2_Missense_Mutation_p.E111K|MBNL3_uc004ewu.4_Missense_Mutation_p.E207K	p.E207K	NM_018388	NP_001164175	WXS	Illumina GAIIx	Phase_I	Q9NUK0	MBNL3_HUMAN			3	1322	-	Acute lymphoblastic leukemia(192;0.000127)		207					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.619G>A	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499714	0.96355	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.85	5.85	0.93711	.	0.134035	0.51477	D	0.000100	T	0.47525	0.1450	L	0.48642	1.525	0.58432	D	0.999998	P;P;P;P;P	0.48911	0.481;0.917;0.855;0.855;0.692	B;B;B;P;B	0.47134	0.268;0.442;0.442;0.539;0.268	T	0.41142	-0.9525	10	0.48119	T	0.1	-8.2931	19.0362	0.92980	0.0:1.0:0.0:0.0	.	157;207;207;157;111	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	K	111;157;207;207;157;207;111;111;111	ENSP00000377848:E111K;ENSP00000439618:E157K;ENSP00000359894:E207K;ENSP00000359890:E207K;ENSP00000359886:E157K;ENSP00000359876:E207K;ENSP00000359881:E111K;ENSP00000406014:E111K;ENSP00000402128:E111K	ENSP00000359876:E207K	E	-	1	0	MBNL3	131352708	1.000000	0.71417	0.985000	0.45067	0.934000	0.57294	7.776000	0.85560	2.445000	0.82738	0.513000	0.50165	GAA		0.468	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		4	88	0	0	0	1	0	4	88					T	131525027	C	T	131525027	3	4	279	1	0	0	0	0	1	0	0	0	9355	835	29	2	526	2	MBNL3	23	131525027	Missense_Mutation	SNP	C	TCGA-EM-A3FO-01A-11D-A21A-08		131525027	23745533	17	4885											
GNG5	2787	broad.mit.edu	37	1	84967626	84967626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr1:84967626G>A	ENST00000370641.3	-	2	582	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Nonsense_Mutation_p.Q37*			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	37					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)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGACAGAACTGTTTCAAGTCT	0.438																																						uc001djw.4																			0		p.K36N(1)		lung(1)|skin(1)	2						c.(109-111)Cag>Tag		Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.							44	49	47					1																	84967626		2203	4300	6503	SO:0001587	stop_gained	2787				G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967626G>A	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.109C>T	1.37:g.84967626G>A	ENSP00000359675:p.Gln37*		Somatic					p.Q37*	NM_005274	NP_005265	WXS	Illumina GAIIx	Phase_I	P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	2	463	-			37					B2R5A0|P30670|Q5VX54|Q61015	Nonsense_Mutation	SNP	ENST00000370641.3	37	c.109C>T	CCDS696.1	.	.	.	.	.	.	.	.	.	.	G	40	7.971623	0.98588	.	.	ENSG00000174021	ENST00000370645;ENST00000370641	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000359675:Q37X	Q	-	1	0	GNG5	84740214	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.174000	0.71943	2.826000	0.97356	0.655000	0.94253	CAG		0.438	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274		14	34	0	0	0	1	0	14	34					A	84967626	G	A	84967626	4	1	280	1	0	0	0	0	0	1	0	0	6530	1386	48	2	101	2	GNG5	1	84967626	Nonsense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		84967626	164282995	1	4886											
PMS1	5378	broad.mit.edu	37	2	190732589	190732589	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:190732589A>G	ENST00000441310.2	+	11	2640	c.2407A>G	c.(2407-2409)Agt>Ggt	p.S803G	PMS1_ENST00000447232.2_Missense_Mutation_p.S641G|PMS1_ENST00000418224.3_Missense_Mutation_p.S627G|PMS1_ENST00000409823.3_Missense_Mutation_p.S764G|PMS1_ENST00000432292.3_Missense_Mutation_p.S627G	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	803					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CCAAAGATACAGTGGATCAAC	0.323			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.4			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"Mis, N"	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"colorectal, endometrial, ovarian"			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2407-2409)Agt>Ggt	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.							118	116	117					2																	190732589		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190732589A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2407A>G	2.37:g.190732589A>G	ENSP00000406490:p.Ser803Gly		Somatic				PMS1_uc002urk.4_Missense_Mutation_p.S764G|PMS1_uc002uri.4_Missense_Mutation_p.S641G|PMS1_uc010zgc.2_Missense_Mutation_p.S627G|PMS1_uc010zgd.2_Missense_Mutation_p.S627G|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Intron|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.S426G|PMS1_uc002urm.3_Non-coding_Transcript	p.S803G	NM_000534	NP_000525	WXS	Illumina GAIIx	Phase_I	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2936	+			803					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2407A>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625025	0.28889	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	T;T;T;D;T;D;T	0.96745	1.76;1.76;1.76;-2.94;1.76;-4.11;1.76	5.41	-1.06	0.10002	.	0.403818	0.30401	N	0.009706	D	0.91912	0.7439	M	0.64997	1.995	0.09310	N	0.999998	B;B;B;B	0.31769	0.092;0.339;0.001;0.224	B;B;B;B	0.27500	0.02;0.08;0.002;0.08	T	0.82499	-0.0427	10	0.21540	T	0.41	-1.3414	6.3741	0.21497	0.4353:0.2318:0.3329:0.0	.	426;764;641;803	Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;PMS1_HUMAN	G	803;627;764;641;627;426;191	ENSP00000406490:S803G;ENSP00000404492:S627G;ENSP00000387125:S764G;ENSP00000401064:S641G;ENSP00000398378:S627G;ENSP00000387169:S426G;ENSP00000396232:S191G	ENSP00000387169:S426G	S	+	1	0	PMS1	190440834	0.036000	0.19791	0.035000	0.18076	0.738000	0.42128	0.533000	0.23082	-0.181000	0.10619	0.477000	0.44152	AGT		0.323	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			16	30	0	0	0	1	0	16	30					G	190732589	A	G	190732589	3	3	280	1	0	0	0	0	1	0	0	0	12142	188	7	3	2445	3	PMS1	2	190732589	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		190732589	52466784	2	4887											
MOBKL3	25843	broad.mit.edu	37	2	198413081	198413081	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr2:198413081A>G	ENST00000323303.4	+	6	631	c.376A>G	c.(376-378)Aga>Gga	p.R126G	MOB4_ENST00000409916.1_Missense_Mutation_p.R27G|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.R162G|MOB4_ENST00000233892.4_Missense_Mutation_p.R94G|MOB4_ENST00000409360.1_Missense_Mutation_p.R94G|MOB4_ENST00000448447.2_Missense_Mutation_p.R105G|MOB4_ENST00000497443.1_Intron	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	126					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										AGACTATACTAGACACACACT	0.323																																						uc021vum.1																			0											c.(484-486)Aga>Gga		Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.							85	84	84					2																	198413081		2203	4300	6503	SO:0001583	missense	100529241							g.chr2:198413081A>G	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"MOB kinase activators"	17261	protein-coding gene	gene with protein product	"phocein", "phocein, Mob-like protein"	609361	"preimplantation protein 3", "MOB1, Mps One Binder kinase activator-like 3 (yeast)"	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.376A>G	2.37:g.198413081A>G	ENSP00000315702:p.Arg126Gly		Somatic				HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.R94G|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.R126G|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.R105G|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.R27G|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.R27G|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.R94G	p.R162G	NM_001202485	NP_001189414	WXS	Illumina GAIIx	Phase_I					6	924	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.484A>G	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195283	0.78902	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.87547	2.89	0.80722	D	1	P;P	0.41673	0.716;0.759	B;P	0.46585	0.386;0.521	T	0.72557	-0.4257	9	0.21540	T	0.41	.	15.3602	0.74469	1.0:0.0:0.0:0.0	.	105;126	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	G	94;27;126;105;94	.	ENSP00000233892:R94G	R	+	1	2	PHOCN	198121326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.916000	0.75776	2.083000	0.62718	0.455000	0.32223	AGA		0.323	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		10	57	0	0	0	1	0	10	57					G	198413081	A	G	198413081	3	3	280	1	0	0	0	0	1	0	0	0	9687	412	15	3	398	3	MOBKL3	2	198413081	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08	7680492	198413081	44786292	3	4888											
HGD	3081	broad.mit.edu	37	3	120389285	120389285	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr3:120389285C>G	ENST00000283871.5	-	4	730	c.271G>C	c.(271-273)Gat>Cat	p.D91H	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	91					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGTTAGGATCAGGATCAACT	0.418																																						uc003edw.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(271-273)Gat>Cat		Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.							142	138	140					3																	120389285		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120389285C>G		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.271G>C	3.37:g.120389285C>G	ENSP00000283871:p.Asp91His		Somatic					p.D91H	NM_000187	NP_000178	WXS	Illumina GAIIx	Phase_I	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	3	731	-			91					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.271G>C	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703103	0.88924	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.98968	-5.28;-5.28	6.06	6.06	0.98353	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	M	0.67953	2.075	0.80722	D	1	P	0.45176	0.852	P	0.55222	0.771	D	0.99331	1.0909	10	0.62326	D	0.03	-10.1386	18.1221	0.89574	0.0:1.0:0.0:0.0	.	91	Q93099	HGD_HUMAN	H	91;50	ENSP00000283871:D91H;ENSP00000419560:D50H	ENSP00000283871:D91H	D	-	1	0	HGD	121871975	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.498000	0.73679	2.871000	0.98454	0.655000	0.94253	GAT		0.418	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			26	72	0	0	0	1	0	26	72					G	120389285	C	G	120389285	3	3	280	1	0	0	0	0	1	0	0	0	7084	826	29	4	1110	4	HGD	3	120389285	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		120389285	77633145	4	4889											
EGFL8	80864	broad.mit.edu	37	6	32135285	32135285	+	Silent	SNP	C	C	T	rs146401113		TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:32135285C>T	ENST00000395512.1	+	8	792	c.687C>T	c.(685-687)gcC>gcT	p.A229A	EGFL8_ENST00000333845.6_Silent_p.A229A|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	229						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCTAGTGGGCCGGTCAGGCTG	0.677													C|||	1	0.000199681	8e-04	0	5008	,	,		16238	0		0	False		,,,				2504	0					uc003oab.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(685-687)gcC>gcT		Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.		C		2,3016		0,2,1507	59	68	65		687	-11.2	0.0	6	dbSNP_134	65	0,5418		0,0,2709	no	coding-synonymous	EGFL8	NM_030652.3		0,2,4216	TT,TC,CC		0.0,0.0663,0.0237		229/294	32135285	2,8434	1509	2709	4218	SO:0001819	synonymous_variant	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135285C>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.687C>T	6.37:g.32135285C>T			Somatic				EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Silent_p.A229A	p.A229A	NM_030652	NP_085155	WXS	Illumina GAIIx	Phase_I	Q99944	EGFL8_HUMAN			7	794	+			229					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	c.687C>T	CCDS4743.1																																																																																				0.677	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		26	48	0	0	0	1	0	26	48					T	32135285	C	T	32135285	2	4	280	1	0	0	0	0	0	0	0	1	4965	639	23	1		1	EGFL8	6	32135285	Silent	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		32135285	138979782	5	4890											
ZBTB22	9278	broad.mit.edu	37	6	33283858	33283858	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr6:33283858G>T	ENST00000431845.2	-	2	987	c.836C>A	c.(835-837)gCt>gAt	p.A279D	TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A279D	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	279					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(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCGGAGCCCAGCCCCAGGAAC	0.617																																						uc003oeb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(835-837)gCt>gAt		Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.							70	60	63					6																	33283858		2203	4299	6502	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283858G>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.836C>A	6.37:g.33283858G>T	ENSP00000407545:p.Ala279Asp		Somatic				TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.A279D|ZBTB22_uc021ywm.1_Missense_Mutation_p.A279D	p.A279D	NM_005453	NP_005444	WXS	Illumina GAIIx	Phase_I	O15209	ZBT22_HUMAN			1	988	-			279					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.836C>A	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607511	0.28623	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06849	3.25;3.25	4.12	3.24	0.37175	.	0.798338	0.10239	N	0.698680	T	0.02267	0.0070	L	0.29908	0.895	0.24621	N	0.993678	B	0.17667	0.023	B	0.15870	0.014	T	0.44283	-0.9338	10	0.34782	T	0.22	.	9.7324	0.40370	0.0:0.2107:0.7893:0.0	.	279	O15209	ZBT22_HUMAN	D	279	ENSP00000404403:A279D;ENSP00000407545:A279D	ENSP00000404403:A279D	A	-	2	0	ZBTB22	33391836	0.892000	0.30473	0.997000	0.53966	0.579000	0.36224	3.792000	0.55476	0.933000	0.37291	0.448000	0.29417	GCT		0.617	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			24	59	0	0	0	1	0	24	59					T	33283858	G	T	33283858	3	4	280	1	0	0	0	0	1	0	0	0	17527	971	34	4	1072	4	ZBTB22	6	33283858	Missense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08	1148573	33283858	137831209	6	4891											
INTS1	26173	broad.mit.edu	37	7	1516466	1516466	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:1516466C>G	ENST00000404767.3	-	36	5112	c.5027G>C	c.(5026-5028)tGc>tCc	p.C1676S	INTS1_ENST00000389470.4_Missense_Mutation_p.C1875S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1676					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GACTCGGATGCACTGGTGCAG	0.652																																						uc003skn.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(5026-5028)tGc>tCc		Homo sapiens integrator complex subunit 1 (INTS1), mRNA.							61	74	70					7																	1516466		2082	4203	6285	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1516466C>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5027G>C	7.37:g.1516466C>G	ENSP00000385722:p.Cys1676Ser		Somatic					p.C1676S	NM_001080453	NP_001073922	WXS	Illumina GAIIx	Phase_I	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	35	5128	-		Ovarian(82;0.0253)	1676					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5027G>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319813	0.60634	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.64803	-0.12;-0.12	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	L	0.60455	1.87	0.47441	D	0.999426	P	0.36183	0.542	B	0.41202	0.35	T	0.67352	-0.5692	10	0.48119	T	0.1	.	18.5081	0.90905	0.0:1.0:0.0:0.0	.	1676	Q8N201	INT1_HUMAN	S	1676;1875	ENSP00000385722:C1676S;ENSP00000374121:C1875S	ENSP00000374121:C1875S	C	-	2	0	INTS1	1482992	1.000000	0.71417	0.798000	0.32154	0.450000	0.32258	4.713000	0.61895	2.392000	0.81423	0.561000	0.74099	TGC		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			13	27	0	0	0	1	0	13	27					G	1516466	C	G	1516466	3	3	280	1	0	0	0	0	1	0	0	0	7775	710	25	4	1597	4	INTS1	7	1516466	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		1516466	157622197	7	4892											
TBL2	26608	broad.mit.edu	37	7	72992835	72992835	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr7:72992835C>A	ENST00000305632.5	-	1	286	c.45G>T	c.(43-45)ttG>ttT	p.L15F	TBL2_ENST00000459913.1_5'Flank|TBL2_ENST00000432538.1_5'Flank|TBL2_ENST00000452475.1_Missense_Mutation_p.L15F	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	15							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)				GCAGCCCAAGCAACACCGACA	0.711																																						uc003tyh.3																			0		p.V14L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(43-45)ttG>ttT		Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.							15	15	15					7																	72992835		2195	4291	6486	SO:0001583	missense	26608							g.chr7:72992835C>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.45G>T	7.37:g.72992835C>A	ENSP00000307260:p.Leu15Phe		Somatic				TBL2_uc011kex.2_5'Flank|TBL2_uc010lbg.3_5'UTR|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_5'UTR	p.L15F	NM_012453	NP_036585	WXS	Illumina GAIIx	Phase_I	Q9Y4P3	TBL2_HUMAN			0	179	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	15					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.45G>T	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345674	0.82022	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000452475	T;T	0.71461	0.07;-0.57	5.5	4.6	0.57074	.	0.000000	0.64402	D	0.000001	T	0.63908	0.2551	L	0.55481	1.735	0.46222	D	0.998937	B	0.14805	0.011	B	0.12837	0.008	T	0.58640	-0.7601	10	0.26408	T	0.33	-7.6921	11.6212	0.51119	0.1779:0.8221:0.0:0.0	.	15	Q9Y4P3	TBL2_HUMAN	F	15	ENSP00000307260:L15F;ENSP00000407371:L15F	ENSP00000307260:L15F	L	-	3	2	TBL2	72630771	0.233000	0.23772	0.997000	0.53966	0.968000	0.65278	0.293000	0.19029	1.306000	0.44926	0.555000	0.69702	TTG		0.711	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		7	14	0	0	0	1	0	7	14					A	72992835	C	A	72992835	3	1	280	1	0	0	0	0	1	0	0	0	15639	709	25	4	1326	4	TBL2	7	72992835	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08	71476369	72992835	86145828	8	4893											
EPPK1	83481	broad.mit.edu	37	8	144941609	144941609	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr8:144941609C>T	ENST00000525985.1	-	2	5884	c.5813G>A	c.(5812-5814)gGg>gAg	p.G1938E				P58107	EPIPL_HUMAN	epiplakin 1	1938						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)			CAGGAGGAACCCGGTGGCGGC	0.652																																						uc003zaa.1																			0		p.G1938W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5812-5814)gGg>gAg		Homo sapiens epiplakin 1 (EPPK1), mRNA.							33	41	38					8																	144941609		2011	4157	6168	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941609C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5813G>A	8.37:g.144941609C>T	ENSP00000436337:p.Gly1938Glu		Somatic					p.G1938E	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	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)		0	5826	-	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)		1938					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5813G>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.616448	0.66672	.	.	ENSG00000227184	ENST00000525985	D	0.87179	-2.22	4.73	4.73	0.59995	.	.	.	.	.	D	0.93739	0.7999	M	0.85041	2.73	0.47341	D	0.999398	D	0.89917	1.0	D	0.97110	1.0	D	0.94590	0.7787	9	0.87932	D	0	.	15.2258	0.73352	0.0:1.0:0.0:0.0	.	1938	E9PPU0	.	E	1938	ENSP00000436337:G1938E	ENSP00000436337:G1938E	G	-	2	0	EPPK1	145013597	1.000000	0.71417	0.812000	0.32479	0.029000	0.11900	7.523000	0.81856	2.459000	0.83118	0.585000	0.79938	GGG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	52	0	0	0	1	0	4	52					T	144941609	C	T	144941609	3	4	280	1	0	0	0	0	1	0	0	0	5190	623	22	2	1453	2	EPPK1	8	144941609	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		144941609	1422413	9	4894											
LMX1B	4010	broad.mit.edu	37	9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr9:129456049_129456051delCAG	ENST00000373474.4	+	6	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del|LMX1B_ENST00000355497.5_In_Frame_Del_p.Q285del|LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	285	Poly-Gln.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc011maa.2																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(844-846)cagdel		Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129456049_129456051delCAG	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.844_846delCAG	9.37:g.129456058_129456060delCAG	ENSP00000362573:p.Gln285del		Somatic				LMX1B_uc004bqi.3_In_Frame_Del_p.Q285del|LMX1B_uc004bqj.3_In_Frame_Del_p.Q285del	p.Q285del	NM_001174146	NP_001167617	WXS	Illumina GAIIx	Phase_I	O60663	LMX1B_HUMAN			5	851_853	+			262					F8W7W6|O75463|Q5JU95|Q6ISC9	In_Frame_Del	DEL	ENST00000373474.4	37	c.844_846delCAG	CCDS55342.1																																																																																				0.754	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			2	4						2	4	---	---	---	---	-	129456051	CAG	-	129456049	7	5	280	1	0	1	0	1	0	0	0	0	8862	595	21	0	866	0	LMX1B	9	129456049	In_Frame_Del	DEL	CAG	TCGA-EM-A3FP-01A-11D-A21A-08		129456049	11757382	10	4895											
SMC3	9126	broad.mit.edu	37	10	112335096	112335096	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr10:112335096A>G	ENST00000361804.4	+	4	259	c.133A>G	c.(133-135)Att>Gtt	p.I45V	SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	45					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTTCCAGCAATTCAGTTTGT	0.338																																						uc001kze.3																			0		p.A44V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(133-135)Att>Gtt		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							136	129	131					10																	112335096		2203	4300	6503	SO:0001583	missense	9126				DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112335096A>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.133A>G	10.37:g.112335096A>G	ENSP00000354720:p.Ile45Val		Somatic					p.I45V	NM_005445	NP_005436	WXS	Illumina GAIIx	Phase_I	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	3	259	+		Breast(234;0.0848)|Lung NSC(174;0.238)	45					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.133A>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456895	0.84317	.	.	ENSG00000108055	ENST00000361804	D	0.93307	-3.2	5.49	5.49	0.81192	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	D	0.93441	0.6794	10	0.25751	T	0.34	.	15.8835	0.79222	1.0:0.0:0.0:0.0	.	45	Q9UQE7	SMC3_HUMAN	V	45	ENSP00000354720:I45V	ENSP00000354720:I45V	I	+	1	0	SMC3	112325086	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.818000	0.91991	2.212000	0.71576	0.460000	0.39030	ATT		0.338	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		17	26	0	0	0	1	0	17	26					G	112335096	A	G	112335096	3	3	280	1	0	0	0	0	1	0	0	0	14784	101	4	3	147	3	SMC3	10	112335096	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		112335096	23199651	11	4896											
OR52R1	119695	broad.mit.edu	37	11	4825377	4825377	+	Silent	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr11:4825377G>A	ENST00000356069.2	-	1	233	c.234C>T	c.(232-234)tcC>tcT	p.S78S	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Silent_p.S157S|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGAGTGGAGGAGGAGAGGA	0.488																																						uc021qcs.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(232-234)tcC>tcT		Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.							123	108	113					11																	4825377		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825377G>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"GPCR / Class A : Olfactory receptors"	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.234C>T	11.37:g.4825377G>A			Somatic					p.S78S	NM_001005177	NP_001005177	WXS	Illumina GAIIx	Phase_I	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	234	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	78					Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.234C>T	CCDS31360.2																																																																																				0.488	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		3	56	0	0	0	1	0	3	56					A	4825377	G	A	4825377	2	1	280	1	0	0	0	0	0	0	0	1	11131	987	35	2		2	OR52R1	11	4825377	Silent	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		4825377	130181139	12	4897											
COL4A2	1284	broad.mit.edu	37	13	111099179	111099179	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr13:111099179C>T	ENST00000360467.5	+	18	1352	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	349	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)			CCTGGACTACCTGCCTACTCC	0.483																																						uc001vqx.3																			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.(1045-1047)cCt>cTt		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							120	127	125					13																	111099179		1869	4100	5969	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111099179C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1046C>T	13.37:g.111099179C>T	ENSP00000353654:p.Pro349Leu		Somatic					p.P349L	NM_001846	NP_001837	WXS	Illumina GAIIx	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		17	1335	+	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)	349			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1046C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	2.456	-0.325323	0.05350	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96885	-4.16	4.95	3.21	0.36854	.	0.268126	0.26514	N	0.023948	D	0.94052	0.8094	M	0.78637	2.42	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	D	0.84626	0.0687	10	0.23302	T	0.38	.	6.5958	0.22672	0.0:0.7888:0.0:0.2112	.	349	P08572	CO4A2_HUMAN	L	349	ENSP00000353654:P349L	ENSP00000257309:P349L	P	+	2	0	COL4A2	109897180	0.008000	0.16893	0.067000	0.19924	0.370000	0.29829	1.309000	0.33539	1.086000	0.41228	0.462000	0.41574	CCT		0.483	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		5	162	0	0	0	1	0	5	162					T	111099179	C	T	111099179	3	4	280	1	0	0	0	0	1	0	0	0	3690	681	24	2	1112	2	COL4A2	13	111099179	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		111099179	4070699	13	4898											
YLPM1	56252	broad.mit.edu	37	14	75230940	75230940	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr14:75230940C>T	ENST00000552421.1	+	1	872	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P250S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P250S			P49750	YLPM1_HUMAN	YLP motif containing 1	250					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCACCACCACCGTCCGCCCC	0.567																																						uc001xqj.4																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(748-750)Ccg>Tcg		Homo sapiens YLP motif containing 1 (YLPM1), mRNA.							73	76	75					14																	75230940		1898	4119	6017	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230940C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.748C>T	14.37:g.75230940C>T	ENSP00000447921:p.Pro250Ser		Somatic					p.P250S	NM_019589	NP_062535	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	0	872	+			90					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	C	0.038	-1.296040	0.01375	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.20881	2.04;2.04;2.04	3.98	1.16	0.20824	.	0.653027	0.13367	N	0.393218	T	0.08044	0.0201	N	0.03608	-0.345	0.09310	N	0.999997	B	0.14012	0.009	B	0.10450	0.005	T	0.35871	-0.9771	10	0.27785	T	0.31	-1.0209	6.0418	0.19738	0.0:0.665:0.0:0.335	.	250	P49750-4	.	S	250	ENSP00000447921:P250S;ENSP00000324463:P250S;ENSP00000238571:P250S	ENSP00000238571:P250S	P	+	1	0	YLPM1	74300693	0.021000	0.18746	0.331000	0.25455	0.002000	0.02628	1.199000	0.32235	0.127000	0.18452	-0.140000	0.14226	CCG		0.567	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		10	39	0	0	0	1	0	10	39					T	75230940	C	T	75230940	3	4	280	1	0	0	0	0	1	0	0	0	17483	507	18	2	750	2	YLPM1	14	75230940	Missense_Mutation	SNP	C	TCGA-EM-A3FP-01A-11D-A21A-08		75230940	32118600	14	4899											
TJP1	7082	broad.mit.edu	37	15	30012630	30012630	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr15:30012630A>C	ENST00000346128.6	-	19	3169	c.2695T>G	c.(2695-2697)Tca>Gca	p.S899A	TJP1_ENST00000356107.6_Missense_Mutation_p.S899A|TJP1_ENST00000400011.2_Missense_Mutation_p.S903A|TJP1_ENST00000545208.2_Missense_Mutation_p.S899A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	899					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCTTGTGGTGAGTAAGGAGGA	0.483																																					Melanoma(77;681 1843 6309 6570)	uc010azl.3																			0		p.S886P(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2659-2661)Tca>Gca		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							201	199	200					15																	30012630		1993	4168	6161	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		g.chr15:30012630A>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2695T>G	15.37:g.30012630A>C	ENSP00000281537:p.Ser899Ala		Somatic				TJP1_uc001zcq.3_Missense_Mutation_p.S903A|TJP1_uc001zcr.3_Missense_Mutation_p.S899A|TJP1_uc001zcs.3_Missense_Mutation_p.S899A	p.S887A	NM_003257	NP_003248	WXS	Illumina GAIIx	Phase_I	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	17	2668	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	899					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2659T>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	A	8.796	0.931772	0.18131	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.05786	3.39;3.49;3.41;3.39	5.93	2.29	0.28610	.	0.270748	0.37577	N	0.002023	T	0.04318	0.0119	L	0.31294	0.92	0.80722	D	1	B;B;B;B	0.12630	0.002;0.006;0.002;0.001	B;B;B;B	0.13407	0.004;0.009;0.002;0.002	T	0.46789	-0.9166	9	.	.	.	.	5.7604	0.18196	0.4541:0.3283:0.2176:0.0	.	892;899;899;903	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	899;903;899;899;899	ENSP00000281537:S899A;ENSP00000382890:S903A;ENSP00000441202:S899A;ENSP00000348416:S899A	.	S	-	1	0	TJP1	27799922	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.957000	0.49137	0.134000	0.18681	0.533000	0.62120	TCA		0.483	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		28	78	0	0	0	1	0	28	78					C	30012630	A	C	30012630	3	2	280	1	0	0	0	0	1	0	0	0	15926	304	11	5	2591	5	TJP1	15	30012630	Missense_Mutation	SNP	A	TCGA-EM-A3FP-01A-11D-A21A-08		30012630	72518762	15	4900											
ITGAM	3684	broad.mit.edu	37	16	31283280	31283280	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr16:31283280G>A	ENST00000287497.8	+	7	746	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	ITGAM_ENST00000544665.3_Missense_Mutation_p.R224Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	224	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGCTTGGGCGGACACACACG	0.512																																						uc002ebr.3																			0		p.G223W(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(670-672)cGg>cAg		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							94	92	92					16																	31283280		1984	4200	6184	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31283280G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.671G>A	16.37:g.31283280G>A	ENSP00000287497:p.Arg224Gln		Somatic				ITGAM_uc002ebq.3_Missense_Mutation_p.R224Q	p.R224Q	NM_001145808	NP_001139280	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			6	769	+			224			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.671G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971422	0.34754	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.83075	-1.68;-1.68	5.5	-8.27	0.01017	von Willebrand factor, type A (3);	.	.	.	.	T	0.65069	0.2656	L	0.37630	1.12	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.49753	-0.8906	9	0.29301	T	0.29	.	1.3602	0.02190	0.2577:0.3505:0.1255:0.2664	.	224;224	Q4VAK1;P11215	.;ITAM_HUMAN	Q	224	ENSP00000441691:R224Q;ENSP00000287497:R224Q	ENSP00000287497:R224Q	R	+	2	0	ITGAM	31190781	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.499000	0.00968	-1.091000	0.03065	0.561000	0.74099	CGG		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		4	142	0	0	0	1	0	4	142					A	31283280	G	A	31283280	3	1	280	1	0	0	0	0	1	0	0	0	7887	1116	39	1	697	1	ITGAM	16	31283280	Missense_Mutation	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		31283280	59071473	16	4901											
ZNF260	339324	broad.mit.edu	37	19	37005674	37005674	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:37005674T>G	ENST00000523638.1	-	3	1588	c.467A>C	c.(466-468)aAa>aCa	p.K156T	ZNF260_ENST00000588993.1_Missense_Mutation_p.K156T|ZNF260_ENST00000592282.1_Missense_Mutation_p.K156T|ZNF260_ENST00000593142.1_Missense_Mutation_p.K156T	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	156					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AGTATGAATTTTCTCATGCTC	0.398																																						uc002oee.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(466-468)aAa>aCa		Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.							176	181	179					19																	37005674		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005674T>G	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.467A>C	19.37:g.37005674T>G	ENSP00000429803:p.Lys156Thr		Somatic				ZNF260_uc010eey.2_Missense_Mutation_p.K156T|ZNF260_uc002oef.2_Missense_Mutation_p.K156T|ZNF260_uc002oed.2_Missense_Mutation_p.K156T|ZNF260_uc021uti.1_Missense_Mutation_p.K156T	p.K156T	NM_001012756	NP_001159510	WXS	Illumina GAIIx	Phase_I	Q3ZCT1	ZN260_HUMAN			3	1389	-	Esophageal squamous(110;0.162)		156					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.467A>C	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185476	0.57909	.	.	ENSG00000254004	ENST00000523638	T	0.24908	1.83	4.69	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.59967	1.855	0.31539	N	0.660202	B	0.24043	0.096	B	0.21917	0.037	T	0.18587	-1.0332	9	0.62326	D	0.03	.	6.923	0.24399	0.0:0.3601:0.0:0.6399	.	156	Q3ZCT1	ZN260_HUMAN	T	156	ENSP00000429803:K156T	ENSP00000429803:K156T	K	-	2	0	ZNF260	41697514	0.000000	0.05858	0.970000	0.41538	0.994000	0.84299	-1.188000	0.03064	0.378000	0.24764	0.459000	0.35465	AAA		0.398	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		38	87	0	0	0	1	0	38	87					G	37005674	T	G	37005674	3	3	280	1	0	0	0	0	1	0	0	0	17799	1841	64	5	775	5	ZNF260	19	37005674	Missense_Mutation	SNP	T	TCGA-EM-A3FP-01A-11D-A21A-08		37005674	22123309	17	4902											
GRIN2D	2906	broad.mit.edu	37	19	48946470	48946471	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chr19:48946470_48946471insC	ENST00000263269.3	+	13	3375_3376	c.3287_3288insC	c.(3286-3291)tgccgcfs	p.R1097fs	GRWD1_ENST00000253237.5_5'Flank	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1097				R -> C (in Ref. 1; AAC15910). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ccgcccccgtgccgcgccgcgc	0.817																																						uc002pjc.4																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(3286-3288)tgcfs		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)																																			SO:0001589	frameshift_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48946470_48946471insC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.3289dupC	19.37:g.48946472_48946472dupC	ENSP00000263269:p.Arg1097fs		Somatic				GRIN2D_uc010elx.3_Frame_Shift_Ins_p.C331fs|GRWD1_uc002pjd.2_5'Flank	p.C1096fs	NM_000836	NP_000827	WXS	Illumina GAIIx	Phase_I	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	3375_3376	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	1096						Frame_Shift_Ins	INS	ENST00000263269.3	37	c.3287_3288insC	CCDS12719.1																																																																																				0.817	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			2	4						2	4	---	---	---	---	C	48946471	-	C	48946470	7	5	280	1	0	1	1	0	0	0	0	0	6782	1319	46	0	3333	0	GRIN2D	19	48946470	Frame_Shift_Ins	INS	-	TCGA-EM-A3FP-01A-11D-A21A-08	11940796	48946470	10182513	18	4903											
G6PD	2539	broad.mit.edu	37	X	153763439	153763439	+	Silent	SNP	G	G	C			TCGA-EM-A3FP-01A-11D-A21A-08	TCGA-EM-A3FP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b72d3a-66eb-4718-ae6d-32d7141293aa	42693a6c-5651-4c5e-a16c-e2c6a1d12ebf	g.chrX:153763439G>C	ENST00000393564.2	-	5	541	c.429C>G	c.(427-429)ccC>ccG	p.P143P	G6PD_ENST00000369620.2_Silent_p.P143P|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393562.2_Silent_p.P173P	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	143					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)			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)					AGACGGTCGGGGGCAAGGCCA	0.627																																						uc004flx.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(517-519)ccC>ccG		Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 1, mRNA.							127	101	110					X																	153763439		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	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity	g.chrX:153763439G>C	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.429C>G	X.37:g.153763439G>C			Somatic				G6PD_uc004fly.1_Silent_p.P143P	p.P173P	NM_000402	NP_001035810	WXS	Illumina GAIIx	Phase_I	P11413	G6PD_HUMAN			4	667	-	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)		143					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.519C>G	CCDS44023.1																																																																																				0.627	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		4	170	0	0	0	1	0	4	170					C	153763439	G	C	153763439	2	2	280	1	0	0	0	0	0	0	0	1	6146	1219	43	4		4	G6PD	23	153763439	Silent	SNP	G	TCGA-EM-A3FP-01A-11D-A21A-08		153763439	1507121	19	4904											
POTEE	445582	broad.mit.edu	37	2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr2:131976198A>G	ENST00000356920.5	+	1	317	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S75G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	75					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGCAGGGGGAGTGGCAAGAG	0.587																																						uc002tsn.2																			0											c.(223-225)Agt>Ggt		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							127	125	126					2																	131976198		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976198A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.223A>G	2.37:g.131976198A>G	ENSP00000439189:p.Ser75Gly		Somatic				PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.S75G	NM_001083538	NP_001077007	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			0	275	+			75					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.223A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.293	0.422244	0.11928	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.79554	-1.28;1.37	.	.	.	.	.	.	.	.	T	0.69584	0.3127	L	0.29908	0.895	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.62006	-0.6945	7	0.87932	D	0	.	.	.	.	.	75	Q6S8J3	POTEE_HUMAN	G	75	ENSP00000439189:S75G;ENSP00000443049:S75G	ENSP00000439189:S75G	S	+	1	0	AC131180.1	131692668	0.046000	0.20272	0.039000	0.18376	0.062000	0.15995	0.170000	0.16663	0.138000	0.18790	0.136000	0.15936	AGT		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		4	223	0	0	0	1	0	4	223					G	131976198	A	G	131976198	3	3	281	1	0	0	0	0	1	0	0	0	12264	304	11	3	225	3	POTEE	2	131976198	Missense_Mutation	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		131976198	111223175	1	4905											
TANC1	85461	broad.mit.edu	37	2	160080795	160080795	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr2:160080795G>A	ENST00000263635.6	+	23	3968	c.3731G>A	c.(3730-3732)gGg>gAg	p.G1244E	TANC1_ENST00000454300.1_Missense_Mutation_p.G1138E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1244					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACCACAGCGGGATGCGGCCC	0.592																																						uc002uag.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(3730-3732)gGg>gAg		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.							67	75	72					2																	160080795		2117	4236	6353	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160080795G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3731G>A	2.37:g.160080795G>A	ENSP00000263635:p.Gly1244Glu		Somatic				TANC1_uc010zcm.2_Missense_Mutation_p.G1236E|TANC1_uc010fom.1_Missense_Mutation_p.G1050E|TANC1_uc010fon.3_Missense_Mutation_p.G88E	p.G1244E	NM_033394	NP_203752	WXS	Illumina GAIIx	Phase_I	Q9C0D5	TANC1_HUMAN			22	4005	+			1244					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3731G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679538	0.88542	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.30714	1.52;1.52	5.17	5.17	0.71159	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.97110	1.0;1.0;0.951	T	0.72431	-0.4296	10	0.87932	D	0	.	18.6798	0.91543	0.0:0.0:1.0:0.0	.	1236;1138;1244	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	E	1138;1244	ENSP00000396339:G1138E;ENSP00000263635:G1244E	ENSP00000263635:G1244E	G	+	2	0	TANC1	159789041	1.000000	0.71417	0.338000	0.25549	0.703000	0.40648	9.861000	0.99562	2.394000	0.81467	0.563000	0.77884	GGG		0.592	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			3	101	0	0	0	1	0	3	101					A	160080795	G	A	160080795	3	1	281	1	0	0	0	0	1	0	0	0	15541	1232	43	2	3813	2	TANC1	2	160080795	Missense_Mutation	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08	28104597	160080795	83118578	2	4906											
ADAMTS2	9509	broad.mit.edu	37	5	178553069	178553069	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr5:178553069A>T	ENST00000251582.7	-	18	2781	c.2680T>A	c.(2680-2682)Ttc>Atc	p.F894I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	894	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGGCACAGAAGCCACGGTGT	0.652																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2680-2682)Ttc>Atc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							86	86	86					5																	178553069		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178553069A>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2680T>A	5.37:g.178553069A>T	ENSP00000251582:p.Phe894Ile		Somatic					p.F894I	NM_014244	NP_055059	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2782	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	894			TSP type-1 2.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2680T>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597378	0.46318	.	.	ENSG00000087116	ENST00000251582	T	0.53423	0.62	4.67	3.42	0.39159	.	0.532999	0.17025	N	0.189969	T	0.51534	0.1680	M	0.85373	2.75	0.80722	D	1	P	0.37061	0.58	B	0.36885	0.235	T	0.61869	-0.6974	10	0.72032	D	0.01	.	10.3438	0.43895	0.8535:0.0:0.0:0.1465	.	894	O95450	ATS2_HUMAN	I	894	ENSP00000251582:F894I	ENSP00000251582:F894I	F	-	1	0	ADAMTS2	178485675	0.948000	0.32251	0.955000	0.39395	0.235000	0.25334	4.678000	0.61641	1.869000	0.54173	0.260000	0.18958	TTC		0.652	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		6	217	0	0	0	1	0	6	217					T	178553069	A	T	178553069	3	4	281	1	0	0	0	0	1	0	0	0	265	72	3	5	975	5	ADAMTS2	5	178553069	Missense_Mutation	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		178553069	2362191	3	4907											
NT5E	4907	broad.mit.edu	37	6	86195042	86195042	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr6:86195042T>C	ENST00000257770.3	+	4	890	c.841T>C	c.(841-843)Tat>Cat	p.Y281H	NT5E_ENST00000369651.3_Missense_Mutation_p.Y281H	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	281					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	AGTCCAGGCCTATGCTTTTGG	0.453																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(841-843)Tat>Cat		Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	Pentoxifylline(DB00806)						146	124	132					6																	86195042		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86195042T>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"CD molecules"	8021	protein-coding gene	gene with protein product		129190	"5' nucleotidase (CD73)"	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.841T>C	6.37:g.86195042T>C	ENSP00000257770:p.Tyr281His		Somatic				NT5E_uc010kbr.3_Missense_Mutation_p.Y281H	p.Y281H	NM_002526	NP_002517	WXS	Illumina GAIIx	Phase_I	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	3	1397	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	281					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.841T>C	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631879	0.87660	.	.	ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651	T;T	0.54479	0.58;0.57	5.63	5.63	0.86233	.	0.110634	0.64402	D	0.000005	T	0.65863	0.2732	M	0.86651	2.83	0.58432	D	0.999999	D;D	0.63880	0.993;0.976	P;P	0.57009	0.811;0.686	T	0.72981	-0.4126	10	0.56958	D	0.05	-8.1741	15.833	0.78773	0.0:0.0:0.0:1.0	.	281;281	B3KQI8;P21589	.;5NTD_HUMAN	H	57;281;281	ENSP00000257770:Y281H;ENSP00000358665:Y281H	ENSP00000257770:Y281H	Y	+	1	0	NT5E	86251761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.564000	0.82326	2.138000	0.66242	0.379000	0.24179	TAT		0.453	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			3	83	0	0	0	1	0	3	83					C	86195042	T	C	86195042	3	2	281	1	0	0	0	0	1	0	0	0	10693	1522	53	3	855	3	NT5E	6	86195042	Missense_Mutation	SNP	T	TCGA-EM-A3FQ-01A-11D-A21A-08		86195042	84920025	4	4908											
NPTX2	4885	broad.mit.edu	37	7	98254301	98254301	+	Nonsense_Mutation	SNP	C	C	G	rs573416055		TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr7:98254301C>G	ENST00000265634.3	+	3	876	c.711C>G	c.(709-711)taC>taG	p.Y237*		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587																																						uc003upl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(709-711)taC>taG		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.							222	177	192					7																	98254301		2203	4300	6503	SO:0001587	stop_gained	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254301C>G		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>G	7.37:g.98254301C>G	ENSP00000265634:p.Tyr237*		Somatic					p.Y237*	NM_002523	NP_002514	WXS	Illumina GAIIx	Phase_I	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	888	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		237			Pentaxin.		A4D267|Q86XV7|Q96G70	Nonsense_Mutation	SNP	ENST00000265634.3	37	c.711C>G	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434473	0.62955	.	.	ENSG00000106236	ENST00000265634	.	.	.	5.57	-9.88	0.00467	.	0.053697	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2805	18.5661	0.91118	0.0:0.2275:0.0:0.7725	.	.	.	.	X	237	.	ENSP00000265634:Y237X	Y	+	3	2	NPTX2	98092237	0.000000	0.05858	0.432000	0.26747	0.367000	0.29736	-1.858000	0.01659	-2.035000	0.00923	-0.459000	0.05422	TAC		0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	286	0	0	0	1	0	4	286					G	98254301	C	G	98254301	4	3	281	1	0	0	0	0	0	1	0	0	10603	547	19	4	721	4	NPTX2	7	98254301	Nonsense_Mutation	SNP	C	TCGA-EM-A3FQ-01A-11D-A21A-08		98254301	60884362	5	4909											
TMEM132B	114795	broad.mit.edu	37	12	126138656	126138656	+	Silent	SNP	G	G	A	rs191297957		TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr12:126138656G>A	ENST00000299308.3	+	9	2645	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	TMEM132B_ENST00000535886.1_Silent_p.P391P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	879						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGAAGTCACCGGACCCCAATA	0.517													G|||	1	0.000199681	0	0	5008	,	,		21313	0		0.001	False		,,,				2504	0					uc001uhe.1																			0		p.P879L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2635-2637)ccG>ccA		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.		G		1,3873		0,1,1936	66	64	65		2637	-5.6	0.0	12		65	1,8273		0,1,4136	no	coding-synonymous	TMEM132B	NM_052907.2		0,2,6072	AA,AG,GG		0.0121,0.0258,0.0165		879/1079	126138656	2,12146	1937	4137	6074	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126138656G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2637G>A	12.37:g.126138656G>A			Somatic				TMEM132B_uc001uhf.1_Silent_p.P391P	p.P879P	NM_052907	NP_443139	WXS	Illumina GAIIx	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	2645	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		879					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.2637G>A	CCDS41859.1																																																																																				0.517	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		17	38	0	0	0	1	0	17	38					A	126138656	G	A	126138656	2	1	281	1	0	0	0	0	0	0	0	1	16043	1103	39	1		1	TMEM132B	12	126138656	Silent	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		126138656	7713239	6	4910											
MCF2L	23263	broad.mit.edu	37	13	113728878	113728878	+	Splice_Site	SNP	G	G	A			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr13:113728878G>A	ENST00000375608.3	+	11	1264		c.e11+1		MCF2L_ENST00000434480.2_Splice_Site|MCF2L_ENST00000397030.1_Splice_Site|MCF2L_ENST00000375604.2_Splice_Site|MCF2L_ENST00000442652.2_Splice_Site|MCF2L_ENST00000535094.2_Splice_Site|MCF2L_ENST00000375597.4_Splice_Site|MCF2L_ENST00000421756.1_Splice_Site|MCF2L_ENST00000375601.3_Splice_Site|MCF2L_ENST00000423482.2_Splice_Site			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAAATCAGGCGTAAGGCGGGG	0.642																																						uc001vsu.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.e10+1		Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.							48	50	50					13																	113728878		2203	4300	6503	SO:0001630	splice_region_variant	23263				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113728878G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1206+1G>A	13.37:g.113728878G>A			Somatic				MCF2L_uc001vsq.3_Splice_Site_p.G429_splice|MCF2L_uc010tjr.2_Splice_Site_p.G372_splice|MCF2L_uc001vsr.3_Splice_Site_p.G376_splice|MCF2L_uc001vss.4_Splice_Site_p.G370_splice|MCF2L_uc010tjs.2_Splice_Site_p.G370_splice|MCF2L_uc001vst.1_Splice_Site_p.G334_splice	p.G429_splice	NM_024979	NP_079255	WXS	Illumina GAIIx	Phase_I	O15068	MCF2L_HUMAN			10	1287	+	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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	402					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Splice_Site	SNP	ENST00000375608.3	37	c.1287_splice		.	.	.	.	.	.	.	.	.	.	G	10.17	1.277762	0.23307	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749;ENST00000397017	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8097	0.88612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCF2L	112776879	1.000000	0.71417	0.051000	0.19133	0.002000	0.02628	8.176000	0.89686	2.186000	0.69663	0.655000	0.94253	.		0.642	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		Intron	4	108	0	0	0	1	0	4	108					A	113728878	G	A	113728878	5	1	281	1	0	0	0	0	0	0	1	0	9379	1159	40	1	1421	1	MCF2L	13	113728878	Splice_Site	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		113728878	1441000	7	4911											
FSCB	84075	broad.mit.edu	37	14	44974999	44974999	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr14:44974999G>A	ENST00000340446.4	-	1	1483	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	398	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCTGGTAAAGGCTGTACTTCA	0.507																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1192-1194)Cct>Tct		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							60	68	65					14																	44974999		2202	4298	6500	SO:0001583	missense	84075					cilium		g.chr14:44974999G>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1192C>T	14.37:g.44974999G>A	ENSP00000344579:p.Pro398Ser		Somatic					p.P398S	NM_032135	NP_115511	WXS	Illumina GAIIx	Phase_I	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1501	-			398			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1192C>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670312	0.29693	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.10763	2.84	5.26	-7.29	0.01451	.	.	.	.	.	T	0.06600	0.0169	L	0.58101	1.795	0.09310	N	1	B	0.33637	0.42	B	0.25506	0.061	T	0.22417	-1.0217	9	0.35671	T	0.21	0.163	0.5553	0.00669	0.3524:0.2032:0.2474:0.1971	.	398	Q5H9T9	FSCB_HUMAN	S	398	ENSP00000344579:P398S	ENSP00000344579:P398S	P	-	1	0	FSCB	44044749	0.927000	0.31430	0.000000	0.03702	0.013000	0.08279	-0.098000	0.11024	-1.272000	0.02427	0.655000	0.94253	CCT		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		9	75	0	0	0	1	0	9	75					A	44974999	G	A	44974999	3	1	281	1	0	0	0	0	1	0	0	0	6066	1203	42	2	1289	2	FSCB	14	44974999	Missense_Mutation	SNP	G	TCGA-EM-A3FQ-01A-11D-A21A-08		44974999	62374541	8	4912											
SALL1	6299	broad.mit.edu	37	16	51173859	51173859	+	Silent	SNP	A	A	G			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr16:51173859A>G	ENST00000251020.4	-	2	2307	c.2274T>C	c.(2272-2274)gcT>gcC	p.A758A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.A661A|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	758					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCGGGGGCATAGCACGATGGA	0.552																																					GBM(103;1352 1446 1855 4775 8890)	uc021tif.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1981-1983)gcT>gcC		Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.							79	81	81					16																	51173859		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173859A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2274T>C	16.37:g.51173859A>G			Somatic				SALL1_uc021tid.1_Silent_p.A661A|SALL1_uc021tie.1_Silent_p.A758A|SALL1_uc010cbv.3_Intron	p.A661A	NM_001127892	NP_001121364	WXS	Illumina GAIIx	Phase_I	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		1	2305	-		all_cancers(37;0.0322)	758					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1983T>C	CCDS10747.1																																																																																				0.552	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		3	93	0	0	0	1	0	3	93					G	51173859	A	G	51173859	2	3	281	1	0	0	0	0	0	0	0	1	13810	407	15	3		3	SALL1	16	51173859	Silent	SNP	A	TCGA-EM-A3FQ-01A-11D-A21A-08		51173859	39180894	9	4913											
PFAS	5198	broad.mit.edu	37	17	8158830	8158830	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FQ-01A-11D-A21A-08	TCGA-EM-A3FQ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79133e29-ba0b-4e2f-a6d9-bf294c5144f0	2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e	g.chr17:8158830C>A	ENST00000314666.6	+	5	528	c.395C>A	c.(394-396)cCc>cAc	p.P132H	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	132					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TTTGCCCACCCCCCGTCAGCT	0.567																																						uc002gkr.3																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(394-396)cCc>cAc		Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						59	54	56					17																	8158830		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158830C>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.395C>A	17.37:g.8158830C>A	ENSP00000313490:p.Pro132His		Somatic				PFAS_uc010vuv.2_Intron	p.P132H	NM_012393	NP_036525	WXS	Illumina GAIIx	Phase_I	O15067	PUR4_HUMAN			4	536	+			132					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.395C>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455809	0.12283	.	.	ENSG00000178921	ENST00000314666	T	0.44881	0.91	5.66	1.05	0.20165	.	0.518878	0.20289	N	0.095298	T	0.24736	0.0600	L	0.35542	1.07	0.20638	N	0.999878	B	0.06786	0.001	B	0.06405	0.002	T	0.12344	-1.0551	10	0.23891	T	0.37	-3.4322	4.2798	0.10827	0.2841:0.505:0.1319:0.0789	.	132	O15067	PUR4_HUMAN	H	132	ENSP00000313490:P132H	ENSP00000313490:P132H	P	+	2	0	PFAS	8099555	0.000000	0.05858	0.098000	0.21074	0.215000	0.24574	-0.389000	0.07342	0.289000	0.22422	0.462000	0.41574	CCC		0.567	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			4	139	0	0	0	1	0	4	139					A	8158830	C	A	8158830	3	1	281	1	0	0	0	0	1	0	0	0	11754	623	22	4	409	4	PFAS	17	8158830	Missense_Mutation	SNP	C	TCGA-EM-A3FQ-01A-11D-A21A-08		8158830	73036380	10	4914											
ARHGEF10L	55160	broad.mit.edu	37	1	17914071	17914071	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:17914071G>A	ENST00000361221.3	+	3	313	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000375420.3_5'Flank	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	52						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)		AGCCCTGGGCGTCCCCAGCCT	0.597																																						uc001ban.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.(154-156)Gtc>Atc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.							147	161	156					1																	17914071		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17914071G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.154G>A	1.37:g.17914071G>A	ENSP00000355060:p.Val52Ile		Somatic				ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V52I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V52I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V52I|ARHGEF10L_uc010ocr.1_5'Flank	p.V52I	NM_018125	NP_060595	WXS	Illumina GAIIx	Phase_I	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)	2	313	+		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)	52					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.154G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	9.654	1.142294	0.21205	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.60040	0.4;0.37;0.22;0.37	4.57	0.572	0.17357	.	1.016860	0.07891	N	0.971123	T	0.37839	0.1018	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.26975	0.165;0.072;0.021;0.012	B;B;B;B	0.19148	0.023;0.016;0.024;0.01	T	0.18335	-1.0340	10	0.16420	T	0.52	-5.8202	6.3153	0.21186	0.4222:0.0:0.5778:0.0	.	52;52;52;52	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	I	52	ENSP00000355060:V52I;ENSP00000399401:V52I;ENSP00000394621:V52I;ENSP00000364564:V52I	ENSP00000355060:V52I	V	+	1	0	ARHGEF10L	17786658	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	0.248000	0.21435	-0.258000	0.10820	GTC		0.597	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		5	304	0	0	0	1	0	5	304					A	17914071	G	A	17914071	3	1	282	1	0	0	0	0	1	0	0	0	895	1145	40	1	160	1	ARHGEF10L	1	17914071	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		17914071	231336550	1	4915											
XPR1	9213	broad.mit.edu	37	1	180849246	180849246	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:180849246G>A	ENST00000367590.4	+	14	2041	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	XPR1_ENST00000367589.3_Missense_Mutation_p.E550K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	615	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGGAGAATGAACATCTGAA	0.458																																						uc001goi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1843-1845)Gaa>Aaa		Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.							113	113	113					1																	180849246		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180849246G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1843G>A	1.37:g.180849246G>A	ENSP00000356562:p.Glu615Lys		Somatic				XPR1_uc009wxn.3_Missense_Mutation_p.E550K	p.E615K	NM_004736	NP_004727	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			13	2035	+			615			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1843G>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831657	0.97003	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.66280	-0.2;-0.2	5.57	5.57	0.84162	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	H	0.96142	3.775	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90527	0.4493	10	0.87932	D	0	-13.3488	19.1489	0.93479	0.0:0.0:1.0:0.0	.	550;615	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	615;550	ENSP00000356562:E615K;ENSP00000356561:E550K	ENSP00000356561:E550K	E	+	1	0	XPR1	179115869	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.726000	0.98782	2.599000	0.87857	0.591000	0.81541	GAA		0.458	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		45	51	0	0	0	1	0	45	51					A	180849246	G	A	180849246	3	1	282	1	0	0	0	0	1	0	0	0	17448	1291	45	2	1897	2	XPR1	1	180849246	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	162935175	180849246	68401375	2	4916											
PLXNA2	5362	broad.mit.edu	37	1	208234068	208234068	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:208234068A>G	ENST00000367033.3	-	13	3458	c.2701T>C	c.(2701-2703)Tgc>Cgc	p.C901R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	901	IPT/TIG 1.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGGCGTGCAGGGCACCCCA	0.637																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2701-2703)Tgc>Cgc		Homo sapiens plexin A2 (PLXNA2), mRNA.							58	55	56					1																	208234068		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208234068A>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2701T>C	1.37:g.208234068A>G	ENSP00000356000:p.Cys901Arg		Somatic					p.C901R	NM_025179	NP_079455	WXS	Illumina GAIIx	Phase_I	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	12	3459	-			901			IPT/TIG 1.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2701T>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643486	0.87859	.	.	ENSG00000076356	ENST00000367033	T	0.63580	-0.05	5.08	5.08	0.68730	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89618	0.3846	10	0.87932	D	0	.	14.8772	0.70504	1.0:0.0:0.0:0.0	.	901	O75051	PLXA2_HUMAN	R	901	ENSP00000356000:C901R	ENSP00000356000:C901R	C	-	1	0	PLXNA2	206300691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.956000	0.93066	1.925000	0.55765	0.533000	0.62120	TGC		0.637	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		3	52	0	0	0	1	0	3	52					G	208234068	A	G	208234068	3	3	282	1	0	0	0	0	1	0	0	0	12120	188	7	3	3063	3	PLXNA2	1	208234068	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	27384822	208234068	41016553	3	4917											
ASAP2	8853	broad.mit.edu	37	2	9463306	9463306	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:9463306C>G	ENST00000281419.3	+	6	867	c.527C>G	c.(526-528)aCt>aGt	p.T176S	ASAP2_ENST00000315273.4_Missense_Mutation_p.T176S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	176					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGATTCGGACTGAAATAAGC	0.498																																						uc002qzh.2																			0		p.R175L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(526-528)aCt>aGt		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.							138	140	139					2																	9463306		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463306C>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.527C>G	2.37:g.9463306C>G	ENSP00000281419:p.Thr176Ser		Somatic				ASAP2_uc002qzi.2_Missense_Mutation_p.T176S	p.T176S	NM_003887	NP_003878	WXS	Illumina GAIIx	Phase_I	O43150	ASAP2_HUMAN			5	867	+			176					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.527C>G	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542974	0.86022	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57436	0.41;0.4	5.11	5.11	0.69529	.	0.050455	0.85682	D	0.000000	T	0.66479	0.2793	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.76071	0.987;0.97	T	0.61628	-0.7024	10	0.31617	T	0.26	.	18.3423	0.90309	0.0:1.0:0.0:0.0	.	176;176	O43150-2;O43150	.;ASAP2_HUMAN	S	176	ENSP00000281419:T176S;ENSP00000316404:T176S	ENSP00000281419:T176S	T	+	2	0	ASAP2	9380757	1.000000	0.71417	0.120000	0.21714	0.950000	0.60333	5.537000	0.67186	2.646000	0.89796	0.655000	0.94253	ACT		0.498	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		88	137	0	0	0	1	0	88	137					G	9463306	C	G	9463306	3	3	282	1	0	0	0	0	1	0	0	0	1011	565	20	4	549	4	ASAP2	2	9463306	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		9463306	233736067	4	4918											
LCT	3938	broad.mit.edu	37	2	136574959	136574959	+	Silent	SNP	G	G	A	rs142388926		TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:136574959G>A	ENST00000264162.2	-	6	1669	c.1659C>T	c.(1657-1659)acC>acT	p.T553T	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	553	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTGCTGGCCGGTGCCATAGC	0.572																																						uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1657-1659)acC>acT		Homo sapiens lactase (LCT), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	76	73	74		1659	-8.4	0.3	2	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		553/1928	136574959	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136574959G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1659C>T	2.37:g.136574959G>A			Somatic					p.T553T	NM_002299	NP_002290	WXS	Illumina GAIIx	Phase_I	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	1670	-			553			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1659C>T	CCDS2178.1																																																																																				0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		3	94	0	0	0	1	0	3	94					A	136574959	G	A	136574959	2	1	282	1	0	0	0	0	0	0	0	1	8693	1103	39	1		1	LCT	2	136574959	Silent	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	127111653	136574959	106624414	5	4919											
INPP5D	3635	broad.mit.edu	37	2	233990613	233990613	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:233990613A>T	ENST00000359570.5	+	4	508	c.508A>T	c.(508-510)Agc>Tgc	p.S170C	INPP5D_ENST00000538935.1_Missense_Mutation_p.S170C|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	170					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACTGCAAAGCATGGACAC	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.2																			0				central_nervous_system(1)|ovary(1)	2						c.(508-510)Agc>Tgc		Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.							29	32	31					2																	233990613		2037	4203	6240	SO:0001583	missense	3635				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	g.chr2:233990613A>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.508A>T	2.37:g.233990613A>T	ENSP00000352575:p.Ser170Cys		Somatic				INPP5D_uc010zmp.2_Missense_Mutation_p.S169C	p.S170C	NM_001017915	NP_001017915	WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	3	661	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	170					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.508A>T		.	.	.	.	.	.	.	.	.	.	A	13.38	2.220376	0.39201	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96459	-3.0;-2.99;-4.02;-3.98	5.23	1.34	0.21922	.	0.784649	0.12877	N	0.431757	D	0.93223	0.7841	.	.	.	0.20403	N	0.999904	P;B	0.34892	0.474;0.343	B;B	0.42214	0.38;0.211	D	0.87332	0.2325	9	0.59425	D	0.04	.	0.454	0.00505	0.4294:0.1846:0.2091:0.1769	.	169;170	Q92835-2;Q92835	.;SHIP1_HUMAN	C	169;170;170;170	ENSP00000409018:S169C;ENSP00000415253:S170C;ENSP00000352575:S170C;ENSP00000441010:S170C	ENSP00000352575:S170C	S	+	1	0	INPP5D	233698857	0.023000	0.18921	0.963000	0.40424	0.717000	0.41224	0.080000	0.14802	0.840000	0.34995	0.529000	0.55759	AGC		0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		7	32	0	0	0	1	0	7	32					T	233990613	A	T	233990613	3	4	282	1	0	0	0	0	1	0	0	0	7756	72	3	5	522	5	INPP5D	2	233990613	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	97415654	233990613	9208760	6	4920											
PCDHA3	56145	broad.mit.edu	37	5	140180926	140180926	+	Silent	SNP	C	C	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:140180926C>A	ENST00000522353.2	+	1	144	c.144C>A	c.(142-144)atC>atA	p.I48I	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.I48I	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	48	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(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.647																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(142-144)atC>atA		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							53	62	59					5																	140180926		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140180926C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.144C>A	5.37:g.140180926C>A			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.I48I	p.I48I	NM_018906	NP_061729	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	144	+			61			Cadherin 1.		O75286	Silent	SNP	ENST00000522353.2	37	c.144C>A	CCDS54915.1																																																																																				0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	142	0	0	0	1	0	4	142					A	140180926	C	A	140180926	2	1	282	1	0	0	0	0	0	0	0	1	11525	874	31	4		4	PCDHA3	5	140180926	Silent	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		140180926	40734334	7	4921											
ZNF300	91975	broad.mit.edu	37	5	150278070	150278070	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:150278070T>C	ENST00000274599.5	-	4	482	c.62A>G	c.(61-63)gAg>gGg	p.E21G	ZNF300_ENST00000427179.1_Missense_Mutation_p.E21G|ZNF300_ENST00000394226.2_Missense_Mutation_p.E21G|ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.E37G	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	21	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)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTGCCACTCCTCCTGGGT	0.463																																						uc021yfx.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(109-111)gAg>gGg		Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.							101	103	102					5																	150278070		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150278070T>C	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.62A>G	5.37:g.150278070T>C	ENSP00000274599:p.Glu21Gly		Somatic				ZNF300_uc021yfy.1_Missense_Mutation_p.E21G|ZNF300_uc021yfz.1_5'UTR	p.E37G	NM_001172831	NP_001166303	WXS	Illumina GAIIx	Phase_I	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	538	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	21			KRAB.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.110A>G	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620428	0.66787	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000427179;ENST00000394226	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	3.26	3.26	0.37387	Krueppel-associated box (4);	.	.	.	.	T	0.51601	0.1684	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.66720	-0.5852	9	0.87932	D	0	.	9.8868	0.41266	0.0:0.0:0.0:1.0	.	21	Q96RE9	ZN300_HUMAN	G	37;21;21;21	ENSP00000397178:E37G;ENSP00000274599:E21G;ENSP00000414195:E21G;ENSP00000377773:E21G	ENSP00000274599:E21G	E	-	2	0	ZNF300	150258263	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.741000	0.62095	1.510000	0.48803	0.383000	0.25322	GAG		0.463	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		42	224	0	0	0	1	0	42	224					C	150278070	T	C	150278070	3	2	282	1	0	0	0	0	1	0	0	0	17828	1551	54	3	1764	3	ZNF300	5	150278070	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08	10097144	150278070	30637190	8	4922											
PNLDC1	154197	broad.mit.edu	37	6	160225058	160225058	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr6:160225058G>C	ENST00000610273.1	+	5	448	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.E104Q	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	93						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTGGACTCAGAATTCTCCTT	0.398																																						uc003qsy.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(310-312)Gaa>Caa		Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.							152	157	155					6																	160225058		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225058G>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.277G>C	6.37:g.160225058G>C	ENSP00000476448:p.Glu93Gln		Somatic				PNLDC1_uc003qsx.1_Missense_Mutation_p.E93Q	p.E104Q	NM_173516	NP_775787	WXS	Illumina GAIIx	Phase_I	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	4	349	+		Breast(66;0.00519)|Ovarian(120;0.123)	93					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.310G>C	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064215	0.36373	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.22539	1.95;1.95	5.61	4.69	0.59074	Ribonuclease H-like (1);	0.090906	0.47455	D	0.000239	T	0.06600	0.0169	N	0.22421	0.69	0.36519	D	0.870023	B;P	0.38420	0.433;0.63	B;B	0.34873	0.068;0.191	T	0.24548	-1.0157	10	0.25751	T	0.34	.	13.4577	0.61208	0.0:0.1566:0.8434:0.0	.	104;93	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	Q	93;104	ENSP00000275275:E93Q;ENSP00000376007:E104Q	ENSP00000275275:E93Q	E	+	1	0	PNLDC1	160145048	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.286000	0.58995	2.640000	0.89533	0.655000	0.94253	GAA		0.398	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		100	184	0	0	0	1	0	100	184					C	160225058	G	C	160225058	3	2	282	1	0	0	0	0	1	0	0	0	12148	943	33	4	291	4	PNLDC1	6	160225058	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		160225058	10890009	9	4923											
CFTR	1080	broad.mit.edu	37	7	117234990	117234990	+	Missense_Mutation	SNP	T	T	C	rs397508390		TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr7:117234990T>C	ENST00000003084.6	+	15	2629	c.2497T>C	c.(2497-2499)Ttt>Ctt	p.F833L	CFTR_ENST00000454343.1_Missense_Mutation_p.F772L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	833				F -> L (in Ref. 1; AAA35680). {ECO:0000305}.	cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCAGGAGTGCTTTTTTGATGA	0.323									Cystic Fibrosis																													uc003vjd.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(2497-2499)Ttt>Ctt		Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	Bumetanide(DB00887)|Glibenclamide(DB01016)						122	119	120					7																	117234990		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	g.chr7:117234990T>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2497T>C	7.37:g.117234990T>C	ENSP00000003084:p.Phe833Leu		Somatic				CFTR_uc011knq.2_Missense_Mutation_p.F239L	p.F833L	NM_000492	NP_000483	WXS	Illumina GAIIx	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2629	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		833	F -> L (in Ref. 1; AAA35680).				Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2497T>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518595	0.44763	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95821	-3.82;-3.82;-3.82	5.34	4.17	0.49024	ABC transporter, transmembrane domain, type 1 (1);	0.092924	0.85682	N	0.000000	D	0.92166	0.7516	L	0.49350	1.555	0.54753	D	0.999981	B	0.12013	0.005	B	0.23574	0.047	D	0.86331	0.1698	10	0.12103	T	0.63	-17.4483	11.4499	0.50147	0.0:0.0715:0.0:0.9285	.	833	P13569	CFTR_HUMAN	L	833;772;803	ENSP00000003084:F833L;ENSP00000403677:F772L;ENSP00000389119:F803L	ENSP00000003084:F833L	F	+	1	0	CFTR	117022226	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.508000	0.67006	0.955000	0.37878	0.482000	0.46254	TTT		0.323	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		3	107	0	0	0	1	0	3	107					C	117234990	T	C	117234990	3	2	282	1	0	0	0	0	1	0	0	0	3294	1609	56	3	2555	3	CFTR	7	117234990	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08		117234990	41903673	10	4924											
SNAI2	6591	broad.mit.edu	37	8	49832563	49832563	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:49832563C>T	ENST00000396822.1	-	3	874	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	SNAI2_ENST00000020945.1_Missense_Mutation_p.A173T			O43623	SNAI2_HUMAN	snail family zinc finger 2	173					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATCTTCAGGGCGCCCAGGCTC	0.483																																						uc003xqp.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(517-519)Gcc>Acc		Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.							91	91	91					8																	49832563		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832563C>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.517G>A	8.37:g.49832563C>T	ENSP00000380034:p.Ala173Thr		Somatic					p.A173T	NM_003068	NP_003059	WXS	Illumina GAIIx	Phase_I	O43623	SNAI2_HUMAN			1	692	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	173					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.517G>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948696	0.92660	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.50548	0.74;0.74	5.52	5.52	0.82312	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	0.49677	0.1571	N	0.04655	-0.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61222	-0.7106	10	0.44086	T	0.13	-19.3139	19.4195	0.94715	0.0:1.0:0.0:0.0	.	173	O43623	SNAI2_HUMAN	T	173	ENSP00000020945:A173T;ENSP00000380034:A173T	ENSP00000020945:A173T	A	-	1	0	SNAI2	49995116	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.487000	0.81328	2.585000	0.87301	0.655000	0.94253	GCC		0.483	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		34	52	0	0	0	1	0	34	52					T	49832563	C	T	49832563	3	4	282	1	0	0	0	0	1	0	0	0	14827	768	27	1	297	1	SNAI2	8	49832563	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		49832563	96531459	11	4925											
TG	7038	broad.mit.edu	37	8	133899146	133899149	+	Frame_Shift_Del	DEL	TGAA	TGAA	-	rs192077055	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:133899146_133899149delTGAA	ENST00000220616.4	+	9	1569_1572	c.1529_1532delTGAA	c.(1528-1533)ttgaatfs	p.LN510fs	TG_ENST00000377869.1_Frame_Shift_Del_p.LN510fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	510					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)		GCAAGCTTCTTGAATGGAGGGAGA	0.451																																						uc003ytw.3																			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.(1528-1533)ttgaatfs		Homo sapiens thyroglobulin (TG), mRNA.																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899146_133899149delTGAA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1529_1532delTGAA	8.37:g.133899146_133899149delTGAA	ENSP00000220616:p.Leu510fs		Somatic					p.L510fs	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	1570_1573	+	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)	510					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.1529_1532delTGAA	CCDS34944.1																																																																																				0.451	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		35	54						35	54	---	---	---	---	-	133899149	TGAA	-	133899146	7	5	282	1	0	1	0	1	0	0	0	0	15810	1821	63	0	1563	0	TG	8	133899146	Frame_Shift_Del	DEL	TGAA	TCGA-EM-A3FR-01A-11D-A21Z-08	84066583	133899146	12464876	12	4926											
PTPRD	5789	broad.mit.edu	37	9	8733812	8733814	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:8733812_8733814delAGC	ENST00000381196.4	-	9	573_575	c.30_32delGCT	c.(28-33)ctgctc>ctc	p.10_11LL>L	PTPRD_ENST00000397606.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000540109.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000356435.5_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000397611.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000463477.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000537002.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000360074.4_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000358503.5_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000486161.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000397617.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000355233.5_In_Frame_Del_p.10_11LL>L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	10					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)		GAAAGTGAGGAGCAGCAGCAGCA	0.591										TSP Lung(15;0.13)																												uc003zkk.3																			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.(28-33)ctgctc>ctc		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.			,,,,,	9,4115		1,7,2054					,,,,,	0.1	0.8			53	11,7977		1,9,3984	no	coding,coding,coding,coding,coding,coding	PTPRD	NM_130393.3,NM_130392.3,NM_130391.3,NM_002839.3,NM_001171025.1,NM_001040712.2	,,,,,	2,16,6038	A1A1,A1R,RR		0.1377,0.2182,0.1651	,,,,,	,,,,,		20,12092				SO:0001651	inframe_deletion	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8733812_8733814delAGC	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.30_32delGCT	9.37:g.8733821_8733823delAGC	ENSP00000370593:p.Leu12del	TSP Lung(15;0.13)	Somatic				PTPRD_uc003zkp.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkq.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkr.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zks.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc022bdj.1_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkt.1_In_Frame_Del_p.10_11LL>L	p.10_11LL>L	NM_002839	NP_002830	WXS	Illumina GAIIx	Phase_I	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)	11	773_775	-		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)	10					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	In_Frame_Del	DEL	ENST00000381196.4	37	c.30_32delGCT	CCDS43786.1																																																																																				0.591	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			2	4						2	4	---	---	---	---	-	8733814	AGC	-	8733812	7	5	282	1	0	1	0	1	0	0	0	0	12799	304	11	0	5914	0	PTPRD	9	8733812	In_Frame_Del	DEL	AGC	TCGA-EM-A3FR-01A-11D-A21Z-08		8733812	132479619	13	4927											
GARNL3	84253	broad.mit.edu	37	9	130106562	130106562	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130106562A>G	ENST00000373387.4	+	15	1652	c.1300A>G	c.(1300-1302)Aag>Gag	p.K434E	GARNL3_ENST00000314904.5_Missense_Mutation_p.K434E|GARNL3_ENST00000435213.2_Missense_Mutation_p.K412E	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	434					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGAGTCACCCAAGTCAGCGCG	0.423																																						uc011mae.2																			0		p.Q434K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(1300-1302)Aag>Gag		Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.							136	152	147					9																	130106562		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130106562A>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1300A>G	9.37:g.130106562A>G	ENSP00000362485:p.Lys434Glu		Somatic				GARNL3_uc011mad.2_Missense_Mutation_p.K412E|GARNL3_uc004bqt.1_Missense_Mutation_p.K215E	p.K434E	NM_032293	NP_115669	WXS	Illumina GAIIx	Phase_I	Q5VVW2	GARL3_HUMAN			14	1701	+			434					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1300A>G	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729582	0.69074	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.87412	-2.24;-2.21;-2.25	5.58	5.58	0.84498	.	0.042704	0.85682	D	0.000000	T	0.81494	0.4834	L	0.44542	1.39	0.58432	D	0.99999	B;B;B	0.31769	0.339;0.224;0.013	B;B;B	0.24701	0.055;0.055;0.006	T	0.78863	-0.2036	9	.	.	.	.	14.5659	0.68176	1.0:0.0:0.0:0.0	.	434;412;375	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	E	412;434;434	ENSP00000396205:K412E;ENSP00000313970:K434E;ENSP00000362485:K434E	.	K	+	1	0	GARNL3	129146383	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.833000	0.92089	2.113000	0.64589	0.460000	0.39030	AAG		0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		17	280	0	0	0	1	0	17	280					G	130106562	A	G	130106562	3	3	282	1	0	0	0	0	1	0	0	0	6241	131	5	3	1358	3	GARNL3	9	130106562	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	121372750	130106562	11106869	14	4928											
LRSAM1	90678	broad.mit.edu	37	9	130253549	130253549	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130253549A>G	ENST00000323301.4	+	19	2082	c.1478A>G	c.(1477-1479)aAg>aGg	p.K493R	LRSAM1_ENST00000373322.1_Missense_Mutation_p.K493R|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000300417.6_Missense_Mutation_p.K493R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	493					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTAAAGAGGAAGTCCCTGGAC	0.507																																						uc004brb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1477-1479)aAg>aGg		Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.							98	100	100					9																	130253549		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130253549A>G	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1478A>G	9.37:g.130253549A>G	ENSP00000322937:p.Lys493Arg		Somatic				LRSAM1_uc010mxk.2_Intron|LRSAM1_uc004brc.2_Missense_Mutation_p.K493R|LRSAM1_uc004brd.2_Missense_Mutation_p.K493R|LRSAM1_uc004bre.2_Missense_Mutation_p.K73R	p.K493R	NM_001005373	NP_612370	WXS	Illumina GAIIx	Phase_I	Q6UWE0	LRSM1_HUMAN			19	1850	+			493					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1478A>G	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603293	0.28534	.	.	ENSG00000148356	ENST00000300417;ENST00000323301;ENST00000373322	T;T;T	0.33865	1.39;1.39;1.39	5.49	5.49	0.81192	.	0.106321	0.64402	D	0.000006	T	0.17066	0.0410	N	0.11064	0.09	0.31790	N	0.629758	P	0.39060	0.657	B	0.35182	0.197	T	0.12502	-1.0545	10	0.02654	T	1	-25.1647	13.838	0.63421	1.0:0.0:0.0:0.0	.	493	Q6UWE0	LRSM1_HUMAN	R	493	ENSP00000300417:K493R;ENSP00000322937:K493R;ENSP00000362419:K493R	ENSP00000300417:K493R	K	+	2	0	LRSAM1	129293370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.062000	0.57492	2.212000	0.71576	0.533000	0.62120	AAG		0.507	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		4	75	0	0	0	1	0	4	75					G	130253549	A	G	130253549	3	3	282	1	0	0	0	0	1	0	0	0	9043	72	3	3	1548	3	LRSAM1	9	130253549	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	146987	130253549	10959882	15	4929											
GAD2	2572	broad.mit.edu	37	10	26508106	26508106	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr10:26508106C>T	ENST00000376261.3	+	4	924	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	GAD2_ENST00000376248.1_Missense_Mutation_p.L27F|GAD2_ENST00000259271.3_Missense_Mutation_p.L141F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	141					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTAATGAGCTTCTCCAAGA	0.343																																						uc001isp.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(421-423)Ctt>Ttt		Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						104	109	107					10																	26508106		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26508106C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.421C>T	10.37:g.26508106C>T	ENSP00000365437:p.Leu141Phe		Somatic				GAD2_uc009xkr.3_Missense_Mutation_p.L141F|GAD2_uc001isq.2_Missense_Mutation_p.L141F	p.L141F	NM_001134366	NP_001127838	WXS	Illumina GAIIx	Phase_I	Q05329	DCE2_HUMAN			3	924	+			141					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.421C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408473	0.83340	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517;ENST00000376248	T;T;T;T	0.60797	0.82;0.82;0.16;0.82	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82843	-0.0257	10	0.87932	D	0	-15.3197	19.6436	0.95767	0.0:1.0:0.0:0.0	.	141;141	Q4G154;Q05329	.;DCE2_HUMAN	F	141;141;141;27	ENSP00000365437:L141F;ENSP00000259271:L141F;ENSP00000390434:L141F;ENSP00000365424:L27F	ENSP00000259271:L141F	L	+	1	0	GAD2	26548112	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.792000	0.55476	2.621000	0.88768	0.650000	0.86243	CTT		0.343	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		20	174	0	0	0	1	0	20	174					T	26508106	C	T	26508106	3	4	282	1	0	0	0	0	1	0	0	0	6180	797	28	2	435	2	GAD2	10	26508106	Missense_Mutation	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		26508106	109026641	16	4930											
TTC36	143941	broad.mit.edu	37	11	118398234	118398234	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr11:118398234G>A	ENST00000302783.4	+	1	48	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000539546.1_5'UTR	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	9										lung(2)	2						TGATCAGGCAGTGCTGCAGGC	0.537																																						uc001ptg.1																			0				lung(2)	2						c.(25-27)Gtg>Atg		Homo sapiens tetratricopeptide repeat domain 36 (TTC36), mRNA.							174	170	171					11																	118398234		2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118398234G>A	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"Tetratricopeptide (TTC) repeat domain containing"	33708	protein-coding gene	gene with protein product	"HSP70 binding protein 21"						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.25G>A	11.37:g.118398234G>A	ENSP00000307640:p.Val9Met		Somatic				TTC36_uc010ryb.1_Non-coding_Transcript|TTC36_uc010ryc.1_5'UTR	p.V9M	NM_001080441	NP_001073910	WXS	Illumina GAIIx	Phase_I	A6NLP5	TTC36_HUMAN			0	25	+			9					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.25G>A	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998718	0.93227	.	.	ENSG00000172425	ENST00000302783	T	0.53206	0.63	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73288	-0.4030	10	0.87932	D	0	-23.6162	19.7782	0.96405	0.0:0.0:1.0:0.0	.	9	A6NLP5	TTC36_HUMAN	M	9	ENSP00000307640:V9M	ENSP00000307640:V9M	V	+	1	0	TTC36	117903444	1.000000	0.71417	0.930000	0.37139	0.858000	0.48976	7.505000	0.81655	2.676000	0.91093	0.563000	0.77884	GTG		0.537	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		4	285	0	0	0	1	0	4	285					A	118398234	G	A	118398234	3	1	282	1	0	0	0	0	1	0	0	0	16701	1029	36	2	27	2	TTC36	11	118398234	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		118398234	16608282	17	4931											
FMNL3	91010	broad.mit.edu	37	12	50050234	50050234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr12:50050234G>A	ENST00000293590.5	-	9	1071	c.838C>T	c.(838-840)Cga>Tga	p.R280*	FMNL3_ENST00000335154.5_Nonsense_Mutation_p.R280*|FMNL3_ENST00000550488.1_Nonsense_Mutation_p.R280*|FMNL3_ENST00000352151.5_Nonsense_Mutation_p.R229*			Q8IVF7	FMNL3_HUMAN	formin-like 3	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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						TGACCTCCTCGCACCAAACAC	0.507																																						uc001ruv.1																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(838-840)Cga>Tga		Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.							76	77	77					12																	50050234		2043	4228	6271	SO:0001587	stop_gained	91010				actin cytoskeleton organization		Rho GTPase binding|actin binding	g.chr12:50050234G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.838C>T	12.37:g.50050234G>A	ENSP00000293590:p.Arg280*		Somatic				FMNL3_uc001ruw.1_Nonsense_Mutation_p.R229*|FMNL3_uc001ruu.1_Nonsense_Mutation_p.R130*	p.R280*	NM_175736	NP_783863	WXS	Illumina GAIIx	Phase_I	Q8IVF7	FMNL3_HUMAN			8	1072	-			280			GBD/FH3.		B0JZA7|Q6ZRJ1	Nonsense_Mutation	SNP	ENST00000293590.5	37	c.838C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.264890	0.95399	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	.	.	.	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3473	0.60582	0.0:0.0:0.7491:0.2509	.	.	.	.	X	280;280;229;280	.	ENSP00000293590:R280X	R	-	1	2	FMNL3	48336501	0.319000	0.24607	1.000000	0.80357	0.998000	0.95712	0.674000	0.25218	2.732000	0.93576	0.655000	0.94253	CGA		0.507	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		3	52	0	0	0	1	0	3	52					A	50050234	G	A	50050234	4	1	282	1	0	0	0	0	0	1	0	0	5953	1095	38	1	2317	1	FMNL3	12	50050234	Nonsense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		50050234	83801661	18	4932											
EIF2AK4	440275	broad.mit.edu	37	15	40268678	40268678	+	Silent	SNP	C	C	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr15:40268678C>A	ENST00000263791.5	+	12	1925	c.1882C>A	c.(1882-1884)Cgg>Agg	p.R628R	EIF2AK4_ENST00000382727.2_Silent_p.R628R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	628	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCCGGCCAGCCGGCAGTTCCG	0.632																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1882-1884)Cgg>Agg		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							30	32	32					15																	40268678		2077	4217	6294	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40268678C>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1882C>A	15.37:g.40268678C>A			Somatic				EIF2AK4_uc010bbj.1_Silent_p.R357R	p.R628R	NM_001013703	NP_001013725	WXS	Illumina GAIIx	Phase_I	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	11	1932	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	628			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.1882C>A	CCDS42016.1																																																																																				0.632	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			3	79	0	0	0	1	0	3	79					A	40268678	C	A	40268678	2	1	282	1	0	0	0	0	0	0	0	1	4999	643	23	4		4	EIF2AK4	15	40268678	Silent	SNP	C	TCGA-EM-A3FR-01A-11D-A21Z-08		40268678	62262714	19	4933											
FMNL1	752	broad.mit.edu	37	17	43311541	43311541	+	Silent	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:43311541G>A	ENST00000331495.3	+	6	924	c.588G>A	c.(586-588)gtG>gtA	p.V196V	FMNL1_ENST00000328118.3_Silent_p.V196V|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	196	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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						CCTCCTCCGTGCCCAAAAGCC	0.572																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.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.(586-588)gtG>gtA		Homo sapiens formin-like 1 (FMNL1), mRNA.							63	67	66					17																	43311541		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		Rho GTPase binding|actin binding	g.chr17:43311541G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.588G>A	17.37:g.43311541G>A			Somatic				FMNL1_uc002iio.3_Silent_p.V141V	p.V196V	NM_005892	NP_005883	WXS	Illumina GAIIx	Phase_I	O95466	FMNL_HUMAN			5	788	+			196			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.588G>A	CCDS11497.1																																																																																				0.572	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		44	66	0	0	0	1	0	44	66					A	43311541	G	A	43311541	2	1	282	1	0	0	0	0	0	0	0	1	5951	1306	46	2		2	FMNL1	17	43311541	Silent	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		43311541	37883669	20	4934											
SPOP	8405	broad.mit.edu	37	17	47696667	47696667	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:47696667G>C	ENST00000393328.2	-	5	646	c.281C>G	c.(280-282)cCa>cGa	p.P94R	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.P94R|SPOP_ENST00000393331.3_Missense_Mutation_p.P94R|SPOP_ENST00000503676.1_Missense_Mutation_p.P94R|SPOP_ENST00000504102.1_Missense_Mutation_p.P94R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	94	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTCACTCTTTGGACAGCTGAC	0.413										Prostate(2;0.17)																												uc010dbk.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(280-282)cCa>cGa		Homo sapiens speckle-type POZ protein (SPOP), transcript variant 2, mRNA.							126	118	121					17																	47696667		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696667G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.281C>G	17.37:g.47696667G>C	ENSP00000377001:p.Pro94Arg	Prostate(2;0.17)	Somatic				SPOP_uc002ipg.3_Missense_Mutation_p.P94R|SPOP_uc002ipb.3_Missense_Mutation_p.P94R|SPOP_uc002ipc.3_Missense_Mutation_p.P94R|SPOP_uc002ipd.3_Missense_Mutation_p.P94R|SPOP_uc002ipe.3_Missense_Mutation_p.P94R|SPOP_uc002ipf.3_Missense_Mutation_p.P94R	p.P94R	NM_003563	NP_003554	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			4	913	-			94			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.281C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187912	0.57909	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.64438	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;-0.1	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	L	0.49571	1.57	0.80722	D	1	P	0.47484	0.896	P	0.46237	0.508	T	0.56547	-0.7961	10	0.18710	T	0.47	-2.4743	19.2223	0.93803	0.0:0.0:1.0:0.0	.	94	O43791	SPOP_HUMAN	R	94;94;94;94;94;47;94;94;94;94;94	ENSP00000377001:P94R;ENSP00000377004:P94R;ENSP00000240327:P94R;ENSP00000425905:P94R;ENSP00000420908:P94R;ENSP00000426986:P94R;ENSP00000420960:P94R;ENSP00000426262:P94R;ENSP00000424119:P94R;ENSP00000426537:P94R	ENSP00000240327:P94R	P	-	2	0	SPOP	45051666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.873000	0.98535	0.563000	0.77884	CCA		0.413	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	89	0	0	0	1	0	45	89					C	47696667	G	C	47696667	3	2	282	1	0	0	0	0	1	0	0	0	15083	1348	47	4	871	4	SPOP	17	47696667	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	4385126	47696667	33498543	21	4935											
FASN	2194	broad.mit.edu	37	17	80043235	80043235	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:80043235A>T	ENST00000306749.2	-	24	4384	c.4166T>A	c.(4165-4167)gTg>gAg	p.V1389E	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1389					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTCAGGCCCACCAGGCGCAG	0.701																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.3																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(4165-4167)gTg>gAg		Homo sapiens fatty acid synthase (FASN), mRNA.	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						18	25	23					17																	80043235		2181	4280	6461	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80043235A>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4166T>A	17.37:g.80043235A>T	ENSP00000304592:p.Val1389Glu		Somatic				FASN_uc002kdw.1_Missense_Mutation_p.V605E	p.V1389E	NM_004104	NP_004095	WXS	Illumina GAIIx	Phase_I	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		23	4283	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1389					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.4166T>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505049	0.85282	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.10573	2.86	4.49	4.49	0.54785	.	0.073236	0.53938	D	0.000042	T	0.33876	0.0878	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.21930	-1.0231	10	0.87932	D	0	-29.7612	14.0429	0.64687	1.0:0.0:0.0:0.0	.	1389	P49327	FAS_HUMAN	E	1389;354	ENSP00000304592:V1389E	ENSP00000304592:V1389E	V	-	2	0	FASN	77636524	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	8.907000	0.92634	1.772000	0.52199	0.379000	0.24179	GTG		0.701	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		6	15	0	0	0	1	0	6	15					T	80043235	A	T	80043235	3	4	282	1	0	0	0	0	1	0	0	0	5683	159	6	5	3449	5	FASN	17	80043235	Missense_Mutation	SNP	A	TCGA-EM-A3FR-01A-11D-A21Z-08	32346568	80043235	1151975	22	4936											
MUC16	94025	broad.mit.edu	37	19	9074980	9074980	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr19:9074980T>C	ENST00000397910.4	-	3	12669	c.12466A>G	c.(12466-12468)Acc>Gcc	p.T4156A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4158	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						GAAGAGCTGGTTTCTTCCACA	0.493																																						uc002mkp.3																			0		p.T4156T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12466-12468)Acc>Gcc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							163	150	154					19																	9074980		1985	4168	6153	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074980T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12466A>G	19.37:g.9074980T>C	ENSP00000381008:p.Thr4156Ala		Somatic					p.T4156A	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	12670	-			4158			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12466A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.676	0.493274	0.12702	.	.	ENSG00000181143	ENST00000397910	T	0.25085	1.82	1.6	-0.615	0.11587	.	.	.	.	.	T	0.21427	0.0516	L	0.55481	1.735	.	.	.	B	0.19817	0.039	B	0.22753	0.041	T	0.26467	-1.0102	8	0.87932	D	0	.	4.216	0.10535	0.0:0.431:0.0:0.569	.	4156	B5ME49	.	A	4156	ENSP00000381008:T4156A	ENSP00000381008:T4156A	T	-	1	0	MUC16	8935980	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	-0.271000	0.08572	-0.262000	0.09392	0.260000	0.18958	ACC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	104	0	0	0	1	0	20	104					C	9074980	T	C	9074980	3	2	282	1	0	0	0	0	1	0	0	0	9973	1725	60	3	31385	3	MUC16	19	9074980	Missense_Mutation	SNP	T	TCGA-EM-A3FR-01A-11D-A21Z-08		9074980	50054003	23	4937											
ITIH5L	347365	broad.mit.edu	37	X	54776381	54776381	+	Missense_Mutation	SNP	G	G	A	rs149644769	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:54776381G>A	ENST00000218436.6	-	13	3918	c.3889C>T	c.(3889-3891)Cgc>Tgc	p.R1297C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1297					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ACATGAGAGCGCTTCACCAGC	0.577													G|||	2	0.000529801	0.0015	0	3775	,	,		12755	0		0	False		,,,				2504	0					uc004dtj.2																			0											c.(3889-3891)Cgc>Tgc		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.		G	CYS/ARG	11,3824		0,10,1,1622,570	50	36	41		3889	1.6	0.9	X	dbSNP_134	41	0,6728		0,0,0,2428,1872	yes	missense	ITIH5L	NM_198510.2	180	0,10,1,4050,2442	AA,AG,A,GG,G		0.0,0.2868,0.1041	benign	1297/1314	54776381	11,10552	2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54776381G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3889C>T	X.37:g.54776381G>A	ENSP00000218436:p.Arg1297Cys		Somatic					p.R1297C	NM_198510	NP_940912	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			12	3919	-			1297					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3889C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786780	0.31593	0.002868	0.0	ENSG00000102313	ENST00000218436	T	0.02446	4.29	3.58	1.58	0.23477	.	0.646937	0.14187	U	0.335654	T	0.03827	0.0108	L	0.49778	1.585	0.27356	N	0.956114	B	0.15473	0.013	B	0.04013	0.001	T	0.28235	-1.0050	10	0.52906	T	0.07	.	10.0142	0.42006	0.1377:0.0:0.8623:0.0	.	1297	Q6UXX5	ITH5L_HUMAN	C	1297	ENSP00000218436:R1297C	ENSP00000218436:R1297C	R	-	1	0	ITIH5L	54793106	0.000000	0.05858	0.915000	0.36163	0.957000	0.61999	-0.204000	0.09425	-0.099000	0.12263	0.284000	0.19432	CGC		0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		4	57	0	0	0	1	0	4	57					A	54776381	G	A	54776381	3	1	282	1	0	0	0	0	1	0	0	0	7908	1087	38	1	56	1	ITIH5L	23	54776381	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08		54776381	100494179	24	4938											
SLC9A6	10479	broad.mit.edu	37	X	135106617	135106617	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:135106617G>C	ENST00000370698.3	+	12	1530	c.1495G>C	c.(1495-1497)Gca>Cca	p.A499P	SLC9A6_ENST00000370695.4_Missense_Mutation_p.A531P|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A479P	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	499					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGCACCACTGCAATGCTGTC	0.393																																						uc004ezk.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1591-1593)Gca>Cca		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.							278	204	229					X																	135106617		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135106617G>C	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1495G>C	X.37:g.135106617G>C	ENSP00000359732:p.Ala499Pro		Somatic				SLC9A6_uc011mvx.2_Missense_Mutation_p.A479P|SLC9A6_uc004ezj.3_Missense_Mutation_p.A499P	p.A531P	NM_001042537	NP_001036002	WXS	Illumina GAIIx	Phase_I	Q92581	SL9A6_HUMAN			11	1667	+	Acute lymphoblastic leukemia(192;0.000127)		499					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1591G>C	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542890	0.27563	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.11604	2.76;2.76;2.76	5.14	5.14	0.70334	Cation/H+ exchanger (1);	0.172283	0.51477	D	0.000084	T	0.02571	0.0078	N	0.00074	-2.255	0.51012	D	0.999903	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.49934	-0.8886	10	0.23302	T	0.38	.	16.1427	0.81536	0.0:0.0:1.0:0.0	.	531;499	Q92581-2;Q92581	.;SL9A6_HUMAN	P	479;499;531	ENSP00000359735:A479P;ENSP00000359732:A499P;ENSP00000359729:A531P	ENSP00000359729:A531P	A	+	1	0	SLC9A6	134934283	0.997000	0.39634	0.998000	0.56505	0.875000	0.50365	4.794000	0.62482	2.111000	0.64477	0.506000	0.49869	GCA		0.393	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		58	151	0	0	0	1	0	58	151					C	135106617	G	C	135106617	3	2	282	1	0	0	0	0	1	0	0	0	14718	1319	46	4	1637	4	SLC9A6	23	135106617	Missense_Mutation	SNP	G	TCGA-EM-A3FR-01A-11D-A21Z-08	80330236	135106617	20163943	25	4939											
OTUD7B	56957	broad.mit.edu	37	1	149943019	149943019	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:149943019G>A	ENST00000369135.4	-	3	540	c.246C>T	c.(244-246)atC>atT	p.I82I	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	82					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCGCTGGAGGATGGGTCGGG	0.532																																						uc001eto.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(142-144)tCc>tTc		Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.							87	86	86					1																	149943019		1898	4119	6017	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding	g.chr1:149943019G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.246C>T	1.37:g.149943019G>A			Somatic				OTUD7B_uc001etn.3_Silent_p.I82I	p.S48F			WXS	Illumina GAIIx	Phase_I	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		0	161	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		0					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.143C>T	CCDS41389.1																																																																																				0.532	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		8	141	0	0	0	1	0	8	141					A	149943019	G	A	149943019	2	1	283	1	0	0	0	0	0	0	0	1	11319	1164	41	2		2	OTUD7B	1	149943019	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		149943019	99307602	1	4940											
C1orf56	54964	broad.mit.edu	37	1	151020356	151020356	+	Silent	SNP	C	C	T	rs371135744		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:151020356C>T	ENST00000368926.5	+	1	141	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	11						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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)			TGCTGTGGGTCCTGCTGCTGA	0.697																																					GBM(146;891 3320 6873)	uc001ewn.3																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(31-33)gtC>gtT		Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.							7	9	8					1																	151020356		2099	4168	6267	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151020356C>T	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.33C>T	1.37:g.151020356C>T			Somatic				C1orf56_uc021oyi.1_Silent_p.V11V	p.V11V	NM_017860	NP_060330	WXS	Illumina GAIIx	Phase_I	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		0	98	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		11					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.33C>T	CCDS980.1																																																																																				0.697	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		9	31	0	0	0	1	0	9	31					T	151020356	C	T	151020356	2	4	283	1	0	0	0	0	0	0	0	1	2048	842	30	2		2	C1orf56	1	151020356	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	1077337	151020356	98230265	2	4941											
SOAT1	6646	broad.mit.edu	37	1	179310209	179310209	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:179310209C>T	ENST00000367619.3	+	7	687	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SOAT1_ENST00000540564.1_Missense_Mutation_p.P124S|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.P117S	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	182					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGGCAAATTTCCTACCGTTGT	0.418																																						uc001gml.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(544-546)Cct>Tct		Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Ezetimibe(DB00973)|Hesperetin(DB01094)						144	134	138					1																	179310209		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding	g.chr1:179310209C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.544C>T	1.37:g.179310209C>T	ENSP00000356591:p.Pro182Ser		Somatic				SOAT1_uc010pni.2_Missense_Mutation_p.P117S|SOAT1_uc001gmm.3_Missense_Mutation_p.P124S|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.P117S	p.P182S	NM_003101	NP_003092	WXS	Illumina GAIIx	Phase_I	P35610	SOAT1_HUMAN			6	775	+			182					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.544C>T	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610549	0.28712	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.96	0.762	0.18454	.	0.191758	0.56097	N	0.000023	T	0.12347	0.0300	L	0.39566	1.225	0.80722	D	1	B;B	0.18013	0.003;0.025	B;B	0.24269	0.021;0.052	T	0.21245	-1.0251	10	0.07813	T	0.8	-14.7085	5.0192	0.14352	0.264:0.528:0.0:0.208	.	124;182	A8K3P4;P35610	.;SOAT1_HUMAN	S	117;124;182;182	ENSP00000441356:P117S;ENSP00000445315:P124S;ENSP00000356591:P182S;ENSP00000411309:P182S	ENSP00000356591:P182S	P	+	1	0	SOAT1	177576832	0.002000	0.14202	0.000000	0.03702	0.975000	0.68041	0.435000	0.21510	-0.102000	0.12197	0.655000	0.94253	CCT		0.418	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		43	48	0	0	0	1	0	43	48					T	179310209	C	T	179310209	3	4	283	1	0	0	0	0	1	0	0	0	14910	855	30	2	566	2	SOAT1	1	179310209	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	28289853	179310209	69940412	3	4942											
SMG7	9887	broad.mit.edu	37	1	183520210	183520210	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:183520210C>T	ENST00000347615.2	+	21	3304	c.3185C>T	c.(3184-3186)tCa>tTa	p.S1062L	SMG7_ENST00000507469.1_Missense_Mutation_p.S1066L|SMG7_ENST00000515829.2_Missense_Mutation_p.S1016L|SMG7_ENST00000456731.2_Missense_Mutation_p.S974L|SMG7_ENST00000367537.3_Missense_Mutation_p.S1095L|SMG7_ENST00000508461.1_Missense_Mutation_p.S1070L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1062					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						GATTATCTCTCAGCAACGTCA	0.517																																						uc001gqf.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.(3196-3198)tCa>tTa		Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 4, mRNA.							81	75	77					1																	183520210		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.chr1:183520210C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3185C>T	1.37:g.183520210C>T	ENSP00000340766:p.Ser1062Leu		Somatic				SMG7_uc001gqh.3_Missense_Mutation_p.S1016L|SMG7_uc001gqg.3_Missense_Mutation_p.S1062L|SMG7_uc010poc.2_Missense_Mutation_p.S1070L	p.S1066L	NM_201569	NP_963863	WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			21	3447	+			1062					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.3197C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890019	0.72524	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.21734	2.0;2.01;1.99;2.0;1.99;2.0	5.34	5.34	0.76211	.	0.381282	0.26397	N	0.024602	T	0.15912	0.0383	N	0.14661	0.345	0.49213	D	0.999761	B;B;B;B;B	0.27559	0.181;0.023;0.039;0.058;0.181	B;B;B;B;B	0.24155	0.031;0.011;0.047;0.031;0.051	T	0.06409	-1.0828	10	0.48119	T	0.1	-11.0075	19.4086	0.94658	0.0:1.0:0.0:0.0	.	1070;974;1016;1062;1066	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	L	974;1095;1070;1062;1066;1016	ENSP00000407629:S974L;ENSP00000356507:S1095L;ENSP00000426915:S1070L;ENSP00000340766:S1062L;ENSP00000425133:S1066L;ENSP00000421358:S1016L	ENSP00000340766:S1062L	S	+	2	0	SMG7	181786833	1.000000	0.71417	0.975000	0.42487	0.885000	0.51271	6.874000	0.75546	2.637000	0.89404	0.650000	0.86243	TCA		0.517	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		16	56	0	0	0	1	0	16	56					T	183520210	C	T	183520210	3	4	283	1	0	0	0	0	1	0	0	0	14798	838	29	2	3421	2	SMG7	1	183520210	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	4210001	183520210	65730411	4	4943											
DSTYK	25778	broad.mit.edu	37	1	205138578	205138578	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:205138578A>T	ENST00000367162.3	-	3	1067	c.1037T>A	c.(1036-1038)tTt>tAt	p.F346Y	DSTYK_ENST00000367160.4_Missense_Mutation_p.F346Y|DSTYK_ENST00000367161.3_Missense_Mutation_p.F346Y	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	346					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTGGTGAGAAAATGTGCTCAA	0.522																																						uc001hbw.3																			0		p.M346T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1036-1038)tTt>tAt		Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.							95	93	94					1																	205138578		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138578A>T	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1037T>A	1.37:g.205138578A>T	ENSP00000356130:p.Phe346Tyr		Somatic				DSTYK_uc001hbx.3_Missense_Mutation_p.F346Y|DSTYK_uc001hby.1_Intron	p.F346Y	NM_015375	NP_056190	WXS	Illumina GAIIx	Phase_I	Q6XUX3	DUSTY_HUMAN			2	1101	-			346					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1037T>A	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795664	0.90453	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	D;D;D	0.83335	-1.71;-1.66;-1.66	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.90601	0.7053	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91753	0.5414	10	0.87932	D	0	-15.9579	15.2544	0.73573	1.0:0.0:0.0:0.0	.	346;346	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	Y	346	ENSP00000356128:F346Y;ENSP00000356129:F346Y;ENSP00000356130:F346Y	ENSP00000356128:F346Y	F	-	2	0	DSTYK	203405201	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	8.959000	0.93110	2.076000	0.62316	0.533000	0.62120	TTT		0.522	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		5	101	0	0	0	1	0	5	101					T	205138578	A	T	205138578	3	4	283	1	0	0	0	0	1	0	0	0	4785	14	1	5	1796	5	DSTYK	1	205138578	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	21618368	205138578	44112043	5	4944											
OBSCN	84033	broad.mit.edu	37	1	228465534	228465534	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:228465534A>G	ENST00000422127.1	+	25	6878	c.6834A>G	c.(6832-6834)gaA>gaG	p.E2278E	RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000570156.2_Silent_p.E2707E|OBSCN_ENST00000359599.6_Silent_p.E1125E|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.E2278E|RP5-1139B12.3_ENST00000602529.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2278					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)				AAAATGCAGAATCGCGAGCCC	0.617																																						uc009xez.1																			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.(6832-6834)gaA>gaG		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							63	64	64					1																	228465534		1905	4122	6027	SO:0001819	synonymous_variant	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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228465534A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6834A>G	1.37:g.228465534A>G			Somatic				OBSCN_uc001hsn.3_Silent_p.E2278E|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	p.E2278E	NM_001098623	NP_001092093	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			24	6878	+		Prostate(94;0.0405)	2278					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.6834A>G	CCDS58065.1																																																																																				0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	195	0	0	0	1	0	26	195					G	228465534	A	G	228465534	2	3	283	1	0	0	0	0	0	0	0	1	10812	98	4	3		3	OBSCN	1	228465534	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	23326956	228465534	20785087	6	4945											
GULP1	51454	broad.mit.edu	37	2	189452645	189452645	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:189452645C>T	ENST00000409580.1	+	12	1526	c.812C>T	c.(811-813)cCa>cTa	p.P271L	GULP1_ENST00000409609.1_Missense_Mutation_p.P271L|GULP1_ENST00000409843.1_Missense_Mutation_p.P271L|GULP1_ENST00000359135.3_Missense_Mutation_p.P271L|GULP1_ENST00000409805.1_Missense_Mutation_p.P168L|GULP1_ENST00000409830.1_Missense_Mutation_p.P271L			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	271					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GATTTCCCTCCAGATATTCAA	0.358																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.3																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(811-813)cCa>cTa		Homo sapiens GULP, engulfment adaptor PTB domain containing 1 (GULP1), transcript variant 1, mRNA.							90	91	91					2																	189452645		2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189452645C>T	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.812C>T	2.37:g.189452645C>T	ENSP00000386289:p.Pro271Leu		Somatic				GULP1_uc002uqd.3_Missense_Mutation_p.P271L|GULP1_uc010zfw.2_Missense_Mutation_p.P168L|GULP1_uc002uqg.3_Missense_Mutation_p.P271L|GULP1_uc002uqf.3_Missense_Mutation_p.P271L|GULP1_uc002uqh.1_Missense_Mutation_p.P91L	p.P271L	NM_016315	NP_057399	WXS	Illumina GAIIx	Phase_I	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		10	1481	+			271					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.812C>T	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716259|4.716259	0.89205|0.89205	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.59364|.	0.27;0.76;0.76;0.76;0.76|.	5.6|5.6	4.72|4.72	0.59763|0.59763	.|.	0.051277|.	0.85682|.	D|.	0.000000|.	T|.	0.73009|.	0.3532|.	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.999;0.889;1.0;0.993|.	D;B;D;P|.	0.85130|.	0.951;0.399;0.997;0.794|.	T|.	0.73610|.	-0.3928|.	10|.	0.87932|.	D|.	0|.	-7.6992|-7.6992	13.7701|13.7701	0.63019|0.63019	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	168;95;271;271|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	L|X	271;271;168;271;271;271|96;156	ENSP00000387144:P271L;ENSP00000386732:P271L;ENSP00000352047:P271L;ENSP00000386289:P271L;ENSP00000386867:P271L|.	ENSP00000352047:P271L|.	P|Q	+|+	2|1	0|0	GULP1|GULP1	189160890|189160890	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	1.371000|1.371000	0.46172|0.46172	0.591000|0.591000	0.81541|0.81541	CCA|CAG		0.358	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		16	33	0	0	0	1	0	16	33					T	189452645	C	T	189452645	3	4	283	1	0	0	0	0	1	0	0	0	6901	594	21	2	846	2	GULP1	2	189452645	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		189452645	53746728	7	4946											
CPS1	1373	broad.mit.edu	37	2	211457603	211457604	+	Splice_Site	DNP	GG	GG	AA			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:211457603_211457604GG>AA	ENST00000233072.5	+	11	1283_1284	c.1087_1088GG>AA	c.(1087-1089)GGg>AAg	p.G363K	CPS1_ENST00000430249.2_Splice_Site_p.G369K|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	363	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATTCCTTTAGGGGATTATGCAT	0.421																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e12-1		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211457603_211457604GG>AA	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	Exception_encountered	2.37:g.211457603_211457604delinsAA			Somatic				CPS1_uc002vee.4_Splice_Site_p.G363_splice|CPS1_uc010fus.3_5'Flank	p.G369_splice	NM_001122633	NP_001116105	WXS	Illumina GAIIx	Phase_I	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	12	1187	+			363			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	DNP	ENST00000233072.5	37	c.1105_splice	CCDS2393.1																																																																																				0.421	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Missense_Mutation	26	58	0	0	0	1	0	26	58					AA	211457604	GG	AA	211457603	5	1	283	1	0	0	0	0	0	0	1	0	3823	1246	43	2	1151	2	CPS1	2	211457603	Splice_Site	DNP	GG	TCGA-EM-A3O3-01A-11D-A21Z-08	22004958	211457603	31741770	8	4947											
CASP6	839	broad.mit.edu	37	4	110617580	110617580	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr4:110617580A>T	ENST00000265164.2	-	4	370	c.293T>A	c.(292-294)cTc>cAc	p.L98H	CASP6_ENST00000505486.1_Intron|CASP6_ENST00000352981.3_Intron|CASP6_ENST00000510324.1_5'Flank	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	98					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		ATGAATTTTGAGCAGTAGTTC	0.328																																						uc003hzn.1																			0		p.L98F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(292-294)cTc>cAc		Homo sapiens caspase 6, apoptosis-related cysteine peptidase (CASP6), transcript variant alpha, mRNA.							94	89	90					4																	110617580		2200	4300	6500	SO:0001583	missense	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110617580A>T	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.293T>A	4.37:g.110617580A>T	ENSP00000265164:p.Leu98His		Somatic				CASP6_uc003hzo.1_Intron	p.L98H	NM_001226	NP_001217	WXS	Illumina GAIIx	Phase_I	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	3	371	-		Hepatocellular(203;0.217)	98					Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	37	c.293T>A	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575344	0.28092	.	.	ENSG00000138794	ENST00000265164;ENST00000503684	T;T	0.20598	2.06;2.06	5.83	-0.0616	0.13784	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	1.132410	0.06319	N	0.704108	T	0.16041	0.0386	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34675	-0.9819	10	0.46703	T	0.11	.	6.125	0.20174	0.3781:0.2184:0.0:0.4036	.	98	P55212	CASP6_HUMAN	H	98;80	ENSP00000265164:L98H;ENSP00000427669:L80H	ENSP00000265164:L98H	L	-	2	0	CASP6	110837029	0.000000	0.05858	0.877000	0.34402	0.968000	0.65278	0.272000	0.18644	0.073000	0.16731	-0.323000	0.08544	CTC		0.328	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		13	15	0	0	0	1	0	13	15					T	110617580	A	T	110617580	3	4	283	1	0	0	0	0	1	0	0	0	2675	304	11	5	604	5	CASP6	4	110617580	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08		110617580	80536696	9	4948											
BDP1	55814	broad.mit.edu	37	5	70800541	70800541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:70800541C>T	ENST00000358731.4	+	16	2598	c.2335C>T	c.(2335-2337)Cag>Tag	p.Q779*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	779					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAAAATGTGCAGCCAGATGA	0.333																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2335-2337)Cag>Tag		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							93	85	87					5																	70800541		1835	4092	5927	SO:0001587	stop_gained	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70800541C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2335C>T	5.37:g.70800541C>T	ENSP00000351575:p.Gln779*		Somatic				BDP1_uc003kbn.1_Nonsense_Mutation_p.Q779*|BDP1_uc003kbo.3_Nonsense_Mutation_p.Q779*	p.Q779*	NM_018429	NP_060899	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	15	2598	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	779					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	ENST00000358731.4	37	c.2335C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	39	7.546535	0.98352	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	.	.	.	4.67	2.69	0.31865	.	0.588395	0.15316	N	0.268792	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	6.7351	0.23405	0.2193:0.5961:0.1846:0.0	.	.	.	.	X	779;779;359;779	.	ENSP00000351575:Q779X	Q	+	1	0	BDP1	70836297	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.499000	0.22546	1.178000	0.42870	0.650000	0.86243	CAG		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		11	27	0	0	0	1	0	11	27					T	70800541	C	T	70800541	4	4	283	1	0	0	0	0	0	1	0	0	1395	711	25	2	2397	2	BDP1	5	70800541	Nonsense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		70800541	110114719	10	4949											
HK3	3101	broad.mit.edu	37	5	176311066	176311066	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:176311066A>G	ENST00000292432.5	-	14	2018	c.1927T>C	c.(1927-1929)Ttg>Ctg	p.L643L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	643	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|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)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCCCGCAACAGACTCACG	0.577																																						uc003mfa.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1927-1929)Ttg>Ctg		Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.							153	150	151					5																	176311066		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176311066A>G		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1927T>C	5.37:g.176311066A>G			Somatic				HK3_uc003mez.3_Silent_p.L199L	p.L643L	NM_002115	NP_002106	WXS	Illumina GAIIx	Phase_I	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	2019	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	643			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.1927T>C	CCDS4407.1																																																																																				0.577	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			47	81	0	0	0	1	0	47	81					G	176311066	A	G	176311066	2	3	283	1	0	0	0	0	0	0	0	1	7192	40	2	3		3	HK3	5	176311066	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	105510525	176311066	4604194	11	4950											
PKHD1	5314	broad.mit.edu	37	6	51921515	51921515	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr6:51921515G>A	ENST00000371117.3	-	18	1949	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	PKHD1_ENST00000340994.4_Silent_p.L558L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	558					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCCAAGCCGGAGAAGGATGT	0.393																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1672-1674)ctC>ctT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							131	137	135					6																	51921515		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51921515G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1674C>T	6.37:g.51921515G>A			Somatic				PKHD1_uc003pai.3_Silent_p.L558L	p.L558L	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			17	1950	-	Lung NSC(77;0.0605)		558					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.1674C>T	CCDS4935.1																																																																																				0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		24	54	0	0	0	1	0	24	54					A	51921515	G	A	51921515	2	1	283	1	0	0	0	0	0	0	0	1	11971	1161	41	2		2	PKHD1	6	51921515	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		51921515	119193552	12	4951											
C7orf27	221927	broad.mit.edu	37	7	2582951	2582951	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:2582951G>A	ENST00000340611.4	-	6	1066	c.810C>T	c.(808-810)ccC>ccT	p.P270P	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	270					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AACTGAACACGGGAGAACTGC	0.627																																						uc003smi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(808-810)ccC>ccT		Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.							33	39	37					7																	2582951		2203	4300	6503	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2582951G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.810C>T	7.37:g.2582951G>A			Somatic				BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_3'UTR|BRAT1_uc003smj.2_3'UTR	p.P270P	NM_152743	NP_689956	WXS	Illumina GAIIx	Phase_I	Q6PJG6	BRAT1_HUMAN			5	1098	-			270					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.810C>T	CCDS5334.1																																																																																				0.627	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		28	51	0	0	0	1	0	28	51					A	2582951	G	A	2582951	2	1	283	1	0	0	0	0	0	0	0	1	2382	1103	39	1		1	C7orf27	7	2582951	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		2582951	156555712	13	4952											
ITGB8	3696	broad.mit.edu	37	7	20403260	20403260	+	Splice_Site	SNP	A	A	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:20403260A>C	ENST00000222573.4	+	2	812	c.128A>C	c.(127-129)gAa>gCa	p.E43A	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	43					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						TTCATTGCAGAAGACAATAGA	0.368																																						uc003suu.3																			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.e2-1		Homo sapiens integrin, beta 8 (ITGB8), mRNA.							60	55	57					7																	20403260		2203	4299	6502	SO:0001630	splice_region_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20403260A>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.128-1A>C	7.37:g.20403260A>C			Somatic				ITGB8_uc011jyh.2_Splice_Site|ITGB8_uc003sut.3_Splice_Site_p.E43_splice	p.E43_splice	NM_002214	NP_002205	WXS	Illumina GAIIx	Phase_I	P26012	ITB8_HUMAN			2	833	+			43					A4D133|B4DHD4	Splice_Site	SNP	ENST00000222573.4	37	c.128_splice	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	5.106	0.205108	0.09704	.	.	ENSG00000105855	ENST00000222573	D	0.89939	-2.59	5.57	5.57	0.84162	.	0.108639	0.39475	N	0.001344	D	0.88020	0.6325	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.956	D	0.86094	0.1552	9	.	.	.	.	7.1114	0.25392	0.6813:0.1935:0.0:0.1252	.	43;43	P26012;Q9BUG9	ITB8_HUMAN;.	A	43	ENSP00000222573:E43A	.	E	+	2	0	ITGB8	20369785	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	1.801000	0.38843	2.119000	0.64992	0.533000	0.62120	GAA		0.368	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Missense_Mutation	8	15	0	0	0	1	0	8	15					C	20403260	A	C	20403260	5	2	283	1	0	0	0	0	0	0	1	0	7901	260	9	5	134	5	ITGB8	7	20403260	Splice_Site	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	17820309	20403260	138735403	14	4953											
C7orf57	136288	broad.mit.edu	37	7	48086188	48086188	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:48086188A>C	ENST00000348904.3	+	5	694	c.482A>C	c.(481-483)gAg>gCg	p.E161A	C7orf57_ENST00000435376.1_Missense_Mutation_p.E39A|C7orf57_ENST00000420324.1_Missense_Mutation_p.E206A|C7orf57_ENST00000430738.1_Missense_Mutation_p.E206A|C7orf57_ENST00000539619.1_Missense_Mutation_p.E161A	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	161										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGAGAGGCTGAGGAACTTGAA	0.463																																						uc003toh.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(481-483)gAg>gCg		Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.							48	45	46					7																	48086188		1938	4142	6080	SO:0001583	missense	136288							g.chr7:48086188A>C	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.482A>C	7.37:g.48086188A>C	ENSP00000335500:p.Glu161Ala		Somatic				C7orf57_uc003toi.4_Missense_Mutation_p.E35A	p.E161A	NM_001100159	NP_001093629	WXS	Illumina GAIIx	Phase_I	Q8NEG2	CG057_HUMAN			4	694	+			161					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.482A>C	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343493	0.82022	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.3	5.3	0.74995	.	0.340826	0.30437	N	0.009628	T	0.67961	0.2949	M	0.63428	1.95	0.42777	D	0.993852	D;D	0.76494	0.992;0.999	D;D	0.73380	0.933;0.98	T	0.68796	-0.5314	10	0.44086	T	0.13	-8.7211	13.4853	0.61361	1.0:0.0:0.0:0.0	.	39;161	C9JBJ8;Q8NEG2	.;CG057_HUMAN	A	206;39;206;161;161	ENSP00000394648:E206A;ENSP00000391652:E39A;ENSP00000410944:E206A;ENSP00000335500:E161A;ENSP00000442474:E161A	ENSP00000335500:E161A	E	+	2	0	C7orf57	48052713	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.746000	0.68681	2.126000	0.65437	0.459000	0.35465	GAG		0.463	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		5	12	0	0	0	1	0	5	12					C	48086188	A	C	48086188	3	2	283	1	0	0	0	0	1	0	0	0	2404	304	11	5	496	5	C7orf57	7	48086188	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	27682928	48086188	111052475	15	4954											
UBN2	254048	broad.mit.edu	37	7	138968642	138968642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:138968642delC	ENST00000473989.3	+	15	2991	c.2991delC	c.(2989-2991)cacfs	p.H997fs	UBN2_ENST00000288561.8_Frame_Shift_Del_p.H914fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	997	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGGGTCCCACCCCCTGGTTT	0.493																																						uc011kqr.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2989-2991)cacfs		Homo sapiens ubinuclein 2 (UBN2), mRNA.							80	79	79					7																	138968642		1915	4144	6059	SO:0001589	frameshift_variant	254048							g.chr7:138968642delC	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2991delC	7.37:g.138968642delC	ENSP00000418648:p.His997fs		Somatic					p.H997fs	NM_173569	NP_775840	WXS	Illumina GAIIx	Phase_I	Q6ZU65	UBN2_HUMAN			14	2991	+			997			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Frame_Shift_Del	DEL	ENST00000473989.3	37	c.2991delC	CCDS43655.2																																																																																				0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		22	45						22	45	---	---	---	---	-	138968642	C	-	138968642	7	5	283	1	0	1	0	1	0	0	0	0	16890	506	18	0	3049	0	UBN2	7	138968642	Frame_Shift_Del	DEL	C	TCGA-EM-A3O3-01A-11D-A21Z-08	90882454	138968642	20170021	16	4955											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		17	32	0	0	0	1	0	17	32					T	140453136	A	T	140453136	3	4	283	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	1484494	140453136	18685527	17	4956											
ZMIZ1	57178	broad.mit.edu	37	10	81060655	81060655	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:81060655C>G	ENST00000334512.5	+	17	2547	c.1975C>G	c.(1975-1977)Ccg>Gcg	p.P659A		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	659					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGTGTGCCAGCCGGGCCGCAA	0.667																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1975-1977)Ccg>Gcg		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							101	100	100					10																	81060655		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81060655C>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1975C>G	10.37:g.81060655C>G	ENSP00000334474:p.Pro659Ala		Somatic				ZMIZ1_uc001kag.2_Missense_Mutation_p.P535A	p.P659A	NM_020338	NP_065071	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		16	2547	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		659					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1975C>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906125	0.92107	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.35605	1.3	5.32	5.32	0.75619	.	0.000000	0.41396	D	0.000892	T	0.46464	0.1394	L	0.47716	1.5	0.80722	D	1	P	0.51147	0.942	P	0.51918	0.684	T	0.33292	-0.9874	10	0.44086	T	0.13	-15.9962	18.9883	0.92780	0.0:1.0:0.0:0.0	.	659	Q9ULJ6	ZMIZ1_HUMAN	A	659;589;564	ENSP00000334474:P659A	ENSP00000334474:P659A	P	+	1	0	ZMIZ1	80730661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.447000	0.80620	2.477000	0.83638	0.591000	0.81541	CCG		0.667	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		36	73	0	0	0	1	0	36	73					G	81060655	C	G	81060655	3	3	283	1	0	0	0	0	1	0	0	0	17693	739	26	4	2025	4	ZMIZ1	10	81060655	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		81060655	54474092	18	4957											
ZFYVE27	118813	broad.mit.edu	37	10	99498333	99498333	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:99498333A>G	ENST00000393677.4	+	2	303	c.99A>G	c.(97-99)ccA>ccG	p.P33P	ZFYVE27_ENST00000357540.4_Silent_p.P33P|ZFYVE27_ENST00000359980.3_Silent_p.P33P|ZFYVE27_ENST00000370613.3_Silent_p.P33P|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000337540.7_Silent_p.P33P|ZFYVE27_ENST00000356257.4_Silent_p.P33P|ZFYVE27_ENST00000453958.2_Silent_p.P33P	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	33					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CCAAGTCCCCAGCGTTTGACC	0.562																																						uc021pwq.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(97-99)ccA>ccG		Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 1, mRNA.							129	128	129					10																	99498333		2203	4300	6503	SO:0001819	synonymous_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99498333A>G	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.99A>G	10.37:g.99498333A>G			Somatic				ZFYVE27_uc001kok.2_Non-coding_Transcript|ZFYVE27_uc010qpc.2_Non-coding_Transcript|ZFYVE27_uc001kol.2_Silent_p.P33P|ZFYVE27_uc001kom.2_Silent_p.P33P|ZFYVE27_uc010qpb.2_Intron|ZFYVE27_uc010qpd.2_Silent_p.P33P|ZFYVE27_uc001koq.3_Silent_p.P33P|ZFYVE27_uc010qpa.2_Silent_p.P33P	p.P33P	NM_001002261	NP_001002261	WXS	Illumina GAIIx	Phase_I	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	0	100	+		Colorectal(252;0.0846)	33					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	ENST00000393677.4	37	c.99A>G	CCDS31263.1																																																																																				0.562	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		28	60	0	0	0	1	0	28	60					G	99498333	A	G	99498333	2	3	283	1	0	0	0	0	0	0	0	1	17666	175	7	3		3	ZFYVE27	10	99498333	Silent	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	18437678	99498333	36036414	19	4958											
PDCD4	27250	broad.mit.edu	37	10	112649373	112649373	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:112649373A>G	ENST00000280154.7	+	7	1134	c.860A>G	c.(859-861)gAt>gGt	p.D287G	PDCD4_ENST00000393104.2_Missense_Mutation_p.D276G|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	287					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGAACTGTAGATTGTGTGCAG	0.338																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.3																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(859-861)gAt>gGt		Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.							162	178	173					10																	112649373		2203	4298	6501	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding	g.chr10:112649373A>G	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.860A>G	10.37:g.112649373A>G	ENSP00000280154:p.Asp287Gly		Somatic				PDCD4_uc001kzg.3_Missense_Mutation_p.D276G|PDCD4_uc010qre.2_Missense_Mutation_p.D273G	p.D287G	NM_014456	NP_055271	WXS	Illumina GAIIx	Phase_I	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	1146	+		Breast(234;0.0848)|Lung NSC(174;0.238)	287					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.860A>G	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374374	0.61735	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.45668	0.89;0.89	5.79	5.79	0.91817	Armadillo-type fold (1);	0.041576	0.85682	D	0.000000	T	0.46833	0.1413	M	0.73598	2.24	0.80722	D	1	B;B;B	0.15141	0.001;0.012;0.004	B;B;B	0.13407	0.009;0.009;0.009	T	0.39187	-0.9626	10	0.40728	T	0.16	-22.1437	16.1276	0.81406	1.0:0.0:0.0:0.0	.	273;287;276	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	G	287;276	ENSP00000280154:D287G;ENSP00000376816:D276G	ENSP00000280154:D287G	D	+	2	0	PDCD4	112639363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.219000	0.72066	0.402000	0.26972	GAT		0.338	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		12	57	0	0	0	1	0	12	57					G	112649373	A	G	112649373	3	3	283	1	0	0	0	0	1	0	0	0	11621	333	12	3	896	3	PDCD4	10	112649373	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	13151040	112649373	22885374	20	4959											
MUC5B	727897	broad.mit.edu	37	11	1269180	1269180	+	Silent	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:1269180C>A	ENST00000529681.1	+	31	11128	c.11070C>A	c.(11068-11070)acC>acA	p.T3690T	MUC5B_ENST00000447027.1_Silent_p.T3693T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3690	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.622																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11068-11070)acC>acA		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							128	159	149					11																	1269180		2082	4177	6259	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269180C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11070C>A	11.37:g.1269180C>A			Somatic					p.T3690T	NM_002458	NP_002449	WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	11129	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3690	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11070C>A	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		123	245	0	0	0	1	0	123	245					A	1269180	C	A	1269180	2	1	283	1	0	0	0	0	0	0	0	1	9979	668	24	4		4	MUC5B	11	1269180	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		1269180	133737336	21	4960											
OR5D13	390142	broad.mit.edu	37	11	55541409	55541409	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:55541409C>A	ENST00000361760.1	+	1	496	c.496C>A	c.(496-498)Ctt>Att	p.L166I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	166						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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATATTTTCTTCTTGACTTATC	0.423																																						uc010ril.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(496-498)Ctt>Att		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.							147	144	145					11																	55541409		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541409C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.496C>A	11.37:g.55541409C>A	ENSP00000354800:p.Leu166Ile		Somatic					p.L166I	NM_001001967	NP_001001967	WXS	Illumina GAIIx	Phase_I	Q8NGL4	OR5DD_HUMAN			0	496	+		all_epithelial(135;0.196)	166					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.496C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	8.538	0.872610	0.17322	.	.	ENSG00000198877	ENST00000361760	T	0.00211	8.54	3.3	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27072	U	0.021064	T	0.00210	0.0006	L	0.57536	1.79	0.09310	N	1	P	0.40144	0.704	P	0.44811	0.461	T	0.41698	-0.9494	10	0.66056	D	0.02	-10.9169	7.6621	0.28409	0.0:0.4498:0.0:0.5502	.	166	Q8NGL4	OR5DD_HUMAN	I	166	ENSP00000354800:L166I	ENSP00000354800:L166I	L	+	1	0	OR5D13	55297985	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.626000	0.00874	-0.324000	0.08589	-0.400000	0.06385	CTT		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		24	65	0	0	0	1	0	24	65					A	55541409	C	A	55541409	3	1	283	1	0	0	0	0	1	0	0	0	11154	913	32	4	498	4	OR5D13	11	55541409	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	54272229	55541409	79465107	22	4961											
OR10G4	390264	broad.mit.edu	37	11	123886643	123886643	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:123886643G>A	ENST00000320891.4	+	1	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	121						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)		TCCTATGATCGCTACTTGGCC	0.572																																						uc010sac.2																			0		p.R121C(1)		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.(361-363)cGc>cAc		Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.							108	101	103					11																	123886643		2202	4296	6498	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886643G>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.362G>A	11.37:g.123886643G>A	ENSP00000325076:p.Arg121His		Somatic					p.R121H	NM_001004462	NP_001004462	WXS	Illumina GAIIx	Phase_I	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	0	362	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	121					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.362G>A	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	g	15.59	2.878134	0.51801	.	.	ENSG00000254737	ENST00000320891	T	0.77489	-1.1	3.48	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.149917	0.28521	N	0.015052	T	0.75722	0.3888	M	0.86268	2.805	0.38271	D	0.942168	B	0.31413	0.322	B	0.27608	0.081	T	0.74677	-0.3585	10	0.72032	D	0.01	.	8.6759	0.34179	0.1926:0.0:0.8074:0.0	.	121	Q8NGN3	O10G4_HUMAN	H	121	ENSP00000325076:R121H	ENSP00000325076:R121H	R	+	2	0	OR10G4	123391853	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.774000	0.62339	0.300000	0.22699	0.580000	0.79431	CGC		0.572	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		33	118	0	0	0	1	0	33	118					A	123886643	G	A	123886643	3	1	283	1	0	0	0	0	1	0	0	0	10901	1087	38	1	364	1	OR10G4	11	123886643	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	68345234	123886643	11119873	23	4962											
STAB2	55576	broad.mit.edu	37	12	104153016	104153016	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr12:104153016C>A	ENST00000388887.2	+	65	7417	c.7213C>A	c.(7213-7215)Ctg>Atg	p.L2405M	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGAAGCAAGCTGCTCATCAC	0.547																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(7213-7215)Ctg>Atg		Homo sapiens stabilin 2 (STAB2), mRNA.							119	96	104					12																	104153016		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104153016C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7213C>A	12.37:g.104153016C>A	ENSP00000373539:p.Leu2405Met		Somatic				STAB2_uc009zug.3_Non-coding_Transcript	p.L2405M	NM_017564	NP_060034	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			64	7399	+			2405			FAS1 7.			Missense_Mutation	SNP	ENST00000388887.2	37	c.7213C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243942	0.39697	.	.	ENSG00000136011	ENST00000388887	D	0.92752	-3.1	4.77	4.77	0.60923	FAS1 domain (4);	0.286853	0.28504	N	0.015108	D	0.94128	0.8117	M	0.88450	2.955	0.35285	D	0.781661	P	0.34934	0.476	P	0.44561	0.453	D	0.97175	0.9847	10	0.72032	D	0.01	.	10.4217	0.44354	0.0:0.909:0.0:0.091	.	2405	Q8WWQ8	STAB2_HUMAN	M	2405	ENSP00000373539:L2405M	ENSP00000373539:L2405M	L	+	1	2	STAB2	102677146	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	3.626000	0.54245	2.340000	0.79590	0.655000	0.94253	CTG		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			23	49	0	0	0	1	0	23	49					A	104153016	C	A	104153016	3	1	283	1	0	0	0	0	1	0	0	0	15237	796	28	4	7471	4	STAB2	12	104153016	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		104153016	29698879	24	4963											
FAM101B	359845	broad.mit.edu	37	17	293075	293075	+	Silent	SNP	C	C	T	rs373345868		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:293075C>T	ENST00000329099.4	-	2	314	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	175					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)			breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		TGTAGACGGCCTTGGGGTACT	0.642																																						uc002frj.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13						c.(313-315)aaG>aaA		Homo sapiens family with sequence similarity 101, member B (FAM101B), mRNA.		C		0,4232		0,0,2116	68	74	72		316	3.5	1.0	17		72	1,8443		0,1,4221	no	coding-synonymous	FAM101B	NM_182705.2		0,1,6337	TT,TC,CC		0.0118,0.0,0.0079		175/215	293075	1,12675	2116	4222	6338	SO:0001819	synonymous_variant	359845							g.chr17:293075C>T			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.315G>A	17.37:g.293075C>T			Somatic					p.K105K	NM_182705	NP_874364	WXS	Illumina GAIIx	Phase_I	Q8N5W9	F101B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)	1	316	-		Myeloproliferative disorder(207;0.204)	175						Silent	SNP	ENST00000329099.4	37	c.315G>A																																																																																					0.642	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1	NM_182705		16	36	0	0	0	1	0	16	36					T	293075	C	T	293075	2	4	283	1	0	0	0	0	0	0	0	1	5381	680	24	2		2	FAM101B	17	293075	Silent	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		293075	80902135	25	4964											
SGSM2	9905	broad.mit.edu	37	17	2279468	2279468	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:2279468G>A	ENST00000426855.2	+	18	2562	c.2387G>A	c.(2386-2388)cGc>cAc	p.R796H	SGSM2_ENST00000574563.1_Missense_Mutation_p.R796H|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.R841H|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	796	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AACCTGCACCGCATAGACAAG	0.597																																						uc002fum.4																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2521-2523)cGc>cAc		Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.							113	95	101					17																	2279468		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2279468G>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2387G>A	17.37:g.2279468G>A	ENSP00000415107:p.Arg796His		Somatic				SGSM2_uc002fun.4_Missense_Mutation_p.R796H|SGSM2_uc010vqw.2_Missense_Mutation_p.R796H|SGSM2_uc002fuq.3_5'Flank	p.R841H	NM_014853	NP_055668	WXS	Illumina GAIIx	Phase_I	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	18	2699	+			796			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.2522G>A	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	g	36	5.675377	0.96764	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.11604	2.76;2.76	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72338	0.977;0.966;0.95	T	0.61505	-0.7049	10	0.72032	D	0.01	-11.7312	17.9521	0.89057	0.0:0.0:1.0:0.0	.	796;796;841	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	H	841;796	ENSP00000268989:R841H;ENSP00000415107:R796H	ENSP00000268989:R841H	R	+	2	0	SGSM2	2226218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.508000	0.84585	0.651000	0.88453	CGC		0.597	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		4	93	0	0	0	1	0	4	93					A	2279468	G	A	2279468	3	1	283	1	0	0	0	0	1	0	0	0	14223	1087	38	1	2596	1	SGSM2	17	2279468	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	1986393	2279468	78915742	26	4965											
TRPV3	162514	broad.mit.edu	37	17	3438882	3438882	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:3438882C>G	ENST00000576742.1	-	7	1090	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	TRPV3_ENST00000572519.1_Missense_Mutation_p.E257Q|TRPV3_ENST00000301365.4_Missense_Mutation_p.E257Q	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	257					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TAGAAGCCTTCGTGTTGGTAC	0.692																																						uc002fvr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(769-771)Gaa>Caa		Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	Menthol(DB00825)						32	32	32					17																	3438882		2202	4300	6502	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3438882C>G	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.769G>C	17.37:g.3438882C>G	ENSP00000461518:p.Glu257Gln		Somatic				TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.E241Q|TRPV3_uc010vri.1_Missense_Mutation_p.E212Q|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E257Q|TRPV3_uc010vrj.1_Missense_Mutation_p.E241Q|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E241Q|TRPV3_uc002fvu.3_Missense_Mutation_p.E257Q	p.E257Q	NM_145068	NP_659505	WXS	Illumina GAIIx	Phase_I	Q8NET8	TRPV3_HUMAN			6	1091	-			257					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.769G>C	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	11.52	1.662158	0.29515	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.87809	-2.3	4.93	3.96	0.45880	Ankyrin repeat-containing domain (3);	0.075449	0.56097	D	0.000037	D	0.82742	0.5103	L	0.41906	1.305	0.28711	N	0.903541	B;B;B;B;P;B;B	0.35272	0.021;0.048;0.195;0.013;0.493;0.36;0.294	B;B;B;B;B;B;B	0.39531	0.041;0.045;0.096;0.03;0.302;0.159;0.197	T	0.73773	-0.3877	10	0.17832	T	0.49	-7.9938	14.7085	0.69208	0.1466:0.8534:0.0:0.0	.	241;241;257;241;257;257;257	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	Q	257;257;241	ENSP00000301365:E257Q	ENSP00000301365:E257Q	E	-	1	0	TRPV3	3385632	0.124000	0.22315	0.999000	0.59377	0.275000	0.26752	2.157000	0.42320	1.423000	0.47198	-0.224000	0.12420	GAA		0.692	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		20	38	0	0	0	1	0	20	38					G	3438882	C	G	3438882	3	3	283	1	0	0	0	0	1	0	0	0	16594	893	31	4	1651	4	TRPV3	17	3438882	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	1159414	3438882	77756328	27	4966											
PCGF2	7703	broad.mit.edu	37	17	36895858	36895858	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:36895858G>A	ENST00000580830.1	-	5	891	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	PCGF2_ENST00000360797.2_Missense_Mutation_p.R64W|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64W|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64W|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10W|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64W			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					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)	p.R64W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCAGCGGCCGGGTTTTATGG	0.617																																						uc002hqp.1																			1	Substitution - Missense(1)	p.R64W(2)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(190-192)Cgg>Tgg		Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.							145	117	127					17																	36895858		2203	4300	6503	SO:0001583	missense	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.chr17:36895858G>A	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.190C>T	17.37:g.36895858G>A	ENSP00000461961:p.Arg64Trp		Somatic					p.R64W	NM_007144	NP_009075	WXS	Illumina GAIIx	Phase_I	P35227	PCGF2_HUMAN			3	436	-	Breast(7;9.07e-22)		64					A6NGD8	Missense_Mutation	SNP	ENST00000580830.1	37	c.190C>T	CCDS32638.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421315	0.25639	.	.	ENSG00000056661	ENST00000360797	T	0.43294	0.95	4.56	2.5	0.30297	Zinc finger, RING/FYVE/PHD-type (1);	0.070142	0.64402	D	0.000017	T	0.42449	0.1203	M	0.68952	2.095	0.40076	D	0.976072	D	0.62365	0.991	P	0.44860	0.462	T	0.42766	-0.9432	10	0.46703	T	0.11	-9.2425	11.0498	0.47880	0.0:0.0:0.6189:0.3811	.	64	P35227	PCGF2_HUMAN	W	64	ENSP00000354033:R64W	ENSP00000354033:R64W	R	-	1	2	PCGF2	34149384	0.009000	0.17119	0.520000	0.27837	0.916000	0.54674	0.548000	0.23314	0.478000	0.27488	0.491000	0.48974	CGG		0.617	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		32	96	0	0	0	1	0	32	96					A	36895858	G	A	36895858	3	1	283	1	0	0	0	0	1	0	0	0	11575	1115	39	1	876	1	PCGF2	17	36895858	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	33456976	36895858	44299352	28	4967											
DDX42	11325	broad.mit.edu	37	17	61885116	61885116	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:61885116G>A	ENST00000578681.1	+	10	1480	c.879G>A	c.(877-879)atG>atA	p.M293I	DDX42_ENST00000583590.1_Missense_Mutation_p.M293I|DDX42_ENST00000359353.5_Missense_Mutation_p.M174I|DDX42_ENST00000389924.2_Missense_Mutation_p.M293I|DDX42_ENST00000457800.2_Missense_Mutation_p.M293I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	293	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTAGAGACATGATTGGTATTG	0.413																																						uc002jbu.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(877-879)atG>atA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.							170	160	163					17																	61885116		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	g.chr17:61885116G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.879G>A	17.37:g.61885116G>A	ENSP00000464050:p.Met293Ile		Somatic				DDX42_uc002jbv.3_Missense_Mutation_p.M293I|DDX42_uc002jbw.1_Missense_Mutation_p.M29I|DDX42_uc002jbx.3_Missense_Mutation_p.M29I	p.M293I	NM_007372	NP_987095	WXS	Illumina GAIIx	Phase_I	Q86XP3	DDX42_HUMAN			9	1136	+			293			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.879G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902578	0.33628	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.13538	2.58;2.58	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.070845	0.85682	D	0.000000	T	0.07098	0.0180	N	0.02334	-0.595	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.44251	-0.9340	10	0.16896	T	0.51	-15.5813	19.3421	0.94347	0.0:0.0:1.0:0.0	.	293	Q86XP3	DDX42_HUMAN	I	293;293;29	ENSP00000374574:M293I;ENSP00000390121:M293I	ENSP00000352308:M29I	M	+	3	0	DDX42	59238848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.826000	0.97356	0.655000	0.94253	ATG		0.413	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		37	76	0	0	0	1	0	37	76					A	61885116	G	A	61885116	3	1	283	1	0	0	0	0	1	0	0	0	4362	1290	45	2	909	2	DDX42	17	61885116	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	24989258	61885116	19310094	29	4968											
AXIN2	8313	broad.mit.edu	37	17	63554510	63554510	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:63554510G>A	ENST00000375702.5	-	1	337	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	AXIN2_ENST00000307078.5_Missense_Mutation_p.R77W|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	77					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGGTCCACCGGGTCAGAGGG	0.572									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.3																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(229-231)Cgg>Tgg		Homo sapiens axin 2 (AXIN2), mRNA.							93	92	93					17																	63554510		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554510G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.229C>T	17.37:g.63554510G>A	ENSP00000364854:p.Arg77Trp		Somatic				AXIN2_uc010den.1_Missense_Mutation_p.R77W|AXIN2_uc002jfh.3_Missense_Mutation_p.R77W|AXIN2_uc002jfj.1_Missense_Mutation_p.R77W	p.R77W	NM_004655	NP_004646	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			1	518	-			77					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.229C>T		.	.	.	.	.	.	.	.	.	.	G	10.35	1.327007	0.24080	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.25579	1.79;1.79;1.79	4.73	0.901	0.19284	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.49762	-0.8905	10	0.87932	D	0	-24.7678	13.1749	0.59621	0.0:0.0:0.6675:0.3325	.	77;77;77	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	W	77	ENSP00000302625:R77W;ENSP00000441151:R77W;ENSP00000364854:R77W	ENSP00000302625:R77W	R	-	1	2	AXIN2	60984972	0.998000	0.40836	0.998000	0.56505	0.964000	0.63967	0.519000	0.22862	0.170000	0.19704	-0.425000	0.05940	CGG		0.572	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		4	90	0	0	0	1	0	4	90					A	63554510	G	A	63554510	3	1	283	1	0	0	0	0	1	0	0	0	1237	1115	39	1	2342	1	AXIN2	17	63554510	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	1669394	63554510	17640700	30	4969											
NFATC1	4772	broad.mit.edu	37	18	77171140	77171140	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr18:77171140G>A	ENST00000427363.2	+	2	865	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	NFATC1_ENST00000318065.5_Missense_Mutation_p.G276S|NFATC1_ENST00000586434.1_Missense_Mutation_p.G276S|NFATC1_ENST00000592223.1_Missense_Mutation_p.G276S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.G289S|NFATC1_ENST00000542384.1_Missense_Mutation_p.G289S|NFATC1_ENST00000591814.1_Missense_Mutation_p.G289S|NFATC1_ENST00000329101.4_Missense_Mutation_p.G276S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.G289S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	289	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GTCCCCGCACGGCTCCCCGCG	0.687																																					GBM(151;1210 2593 28719 45011)	uc010xfg.2																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(865-867)Ggc>Agc		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.							32	30	31					18																	77171140		2185	4269	6454	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171140G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.865G>A	18.37:g.77171140G>A	ENSP00000389377:p.Gly289Ser		Somatic				NFATC1_uc002lnc.1_Missense_Mutation_p.G289S|NFATC1_uc010xff.1_Missense_Mutation_p.G289S|NFATC1_uc002lnd.3_Missense_Mutation_p.G289S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.G289S|NFATC1_uc010xfi.1_Missense_Mutation_p.G276S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.G276S|NFATC1_uc002lng.3_Missense_Mutation_p.G276S|NFATC1_uc010xfk.2_Missense_Mutation_p.G276S	p.G289S	NM_006162	NP_006153	WXS	Illumina GAIIx	Phase_I	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	1	1318	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	289			3 X SP repeats.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061371	0.07317	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.73789	2.7;-0.78;-0.78;-0.78	4.96	2.88	0.33553	.	0.587759	0.18930	N	0.127243	T	0.43433	0.1247	N	0.08118	0	0.18873	N	0.999983	B;B;B;B;B;B;B	0.23442	0.048;0.048;0.012;0.085;0.085;0.04;0.022	B;B;B;B;B;B;B	0.14578	0.007;0.007;0.007;0.011;0.011;0.006;0.007	T	0.37174	-0.9717	10	0.02654	T	1	-34.4255	4.5549	0.12131	0.5569:0.0:0.4431:0.0	.	276;276;289;289;289;276;289	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	S	289;289;289;276;276;253	ENSP00000316553:G289S;ENSP00000253506:G289S;ENSP00000442435:G289S;ENSP00000327850:G276S	ENSP00000253506:G289S	G	+	1	0	NFATC1	75272128	0.006000	0.16342	0.832000	0.32986	0.790000	0.44656	1.594000	0.36697	1.185000	0.42971	0.591000	0.81541	GGC		0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		39	64	0	0	0	1	0	39	64					A	77171140	G	A	77171140	3	1	283	1	0	0	0	0	1	0	0	0	10361	1116	39	1	963	1	NFATC1	18	77171140	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		77171140	906108	31	4970											
HDGFRP2	84717	broad.mit.edu	37	19	4498373	4498373	+	Splice_Site	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:4498373G>A	ENST00000301284.4	+	12	1537	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	HDGFRP2_ENST00000586684.1_Splice_Site_p.P491P	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		491					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TCGACAGCCCGGTAAGACCCT	0.627																																						uc002mao.3																			0											c.e12+1		Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.							36	39	38					19																	4498373		2059	4207	6266	SO:0001630	splice_region_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4498373G>A																												ENST00000301284.4:c.1473+1G>A	19.37:g.4498373G>A			Somatic				HDGFRP2_uc002map.3_Splice_Site_p.P491_splice|HDGFRP2_uc010dtz.1_Splice_Site|HDGFRP2_uc002maq.1_5'Flank|HDGFRP2_uc010dua.3_5'Flank	p.P491_splice	NM_001001520	NP_001001520	WXS	Illumina GAIIx	Phase_I	Q7Z4V5	HDGR2_HUMAN			12	1566	+			491					I3L080|K7EQZ6|Q96GI5|Q9BW08	Splice_Site	SNP	ENST00000301284.4	37	c.1473_splice	CCDS42472.1																																																																																				0.627	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1		Silent	7	16	0	0	0	1	0	7	16					A	4498373	G	A	4498373	5	1	283	1	0	0	0	0	0	0	1	0	7020	1130	39	1	1519	1	HDGFRP2	19	4498373	Splice_Site	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08		4498373	54630610	32	4971											
FLT3LG	2323	broad.mit.edu	37	19	49979779	49979779	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:49979779C>T	ENST00000594009.1	+	4	377	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	FLT3LG_ENST00000597551.1_Missense_Mutation_p.R100C|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000344019.3_Missense_Mutation_p.R100C|FLT3LG_ENST00000600429.1_Missense_Mutation_p.R100C|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R18C|FLT3LG_ENST00000595510.1_Missense_Mutation_p.R18C|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R100C	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	100					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTTGCTGGAGCGCGTGAACAC	0.592											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pnu.3																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(298-300)Cgc>Tgc		Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.							84	74	77					19																	49979779		2203	4300	6503	SO:0001583	missense	2323				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49979779C>T	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"Endogenous ligands"	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.298C>T	19.37:g.49979779C>T	ENSP00000469613:p.Arg100Cys		Somatic	OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	FLT3LG_uc002pnw.3_Missense_Mutation_p.R18C|FLT3LG_uc010yau.2_Missense_Mutation_p.R100C|FLT3LG_uc002pnv.3_Missense_Mutation_p.R18C|FLT3LG_uc002pnx.3_Missense_Mutation_p.R100C|FLT3LG_uc010yav.2_Missense_Mutation_p.R18C	p.R100C	NM_001459	NP_001450	WXS	Illumina GAIIx	Phase_I	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	4	408	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	100					A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	c.298C>T	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939946	0.34283	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.3	-1.54	0.08584	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.158280	0.06395	N	0.717773	T	0.18676	0.0448	N	0.14661	0.345	0.09310	N	0.999998	P	0.49635	0.926	P	0.44561	0.453	T	0.17715	-1.0360	9	0.62326	D	0.03	-3.6523	4.1567	0.10265	0.4224:0.1872:0.3904:0.0	.	100	P49771	FLT3L_HUMAN	C	100	.	ENSP00000204637:R100C	R	+	1	0	FLT3LG	54671591	0.015000	0.18098	0.025000	0.17156	0.420000	0.31355	-0.121000	0.10643	-0.047000	0.13423	-0.333000	0.08304	CGC		0.592	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			13	51	0	0	0	1	0	13	51					T	49979779	C	T	49979779	3	4	283	1	0	0	0	0	1	0	0	0	5943	768	27	1	312	1	FLT3LG	19	49979779	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	45481406	49979779	9149204	33	4972											
SCAF1	58506	broad.mit.edu	37	19	50154329	50154329	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:50154329A>G	ENST00000360565.3	+	7	807	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	228	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTCGATATCTATGACCCCTTC	0.657																																						uc002poq.3																			0		p.I227N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(682-684)tAt>tGt		Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.							32	33	33					19																	50154329		2200	4295	6495	SO:0001583	missense	58506				RNA splicing|mRNA processing	nucleus	RNA binding	g.chr19:50154329A>G	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.683A>G	19.37:g.50154329A>G	ENSP00000353769:p.Tyr228Cys		Somatic					p.Y228C	NM_021228	NP_067051	WXS	Illumina GAIIx	Phase_I	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	6	807	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	228			Pro-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.683A>G	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	a	8.940	0.965514	0.18583	.	.	ENSG00000126461	ENST00000360565	T	0.57752	0.38	4.25	4.25	0.50352	.	0.575691	0.13235	N	0.403293	T	0.57066	0.2028	N	0.19112	0.55	0.42162	D	0.991602	D	0.89917	1.0	D	0.87578	0.998	T	0.52064	-0.8625	9	.	.	.	-0.2675	12.798	0.57569	1.0:0.0:0.0:0.0	.	228	Q9H7N4	SFR19_HUMAN	C	228	ENSP00000353769:Y228C	.	Y	+	2	0	SCAF1	54846141	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	4.481000	0.60250	1.913000	0.55393	0.525000	0.51046	TAT		0.657	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		27	52	0	0	0	1	0	27	52					G	50154329	A	G	50154329	3	3	283	1	0	0	0	0	1	0	0	0	13868	449	16	3	705	3	SCAF1	19	50154329	Missense_Mutation	SNP	A	TCGA-EM-A3O3-01A-11D-A21Z-08	174550	50154329	8974654	34	4973											
ZNF613	79898	broad.mit.edu	37	19	52443516	52443516	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:52443516C>T	ENST00000293471.6	+	4	749	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	24	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(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAGTGGCAGCTCCTCGGCCC	0.512																																						uc002pxz.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(70-72)Ctc>Ttc		Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.							127	121	123					19																	52443516		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52443516C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.70C>T	19.37:g.52443516C>T	ENSP00000293471:p.Leu24Phe		Somatic				ZNF613_uc002pya.2_5'UTR	p.L24F	NM_001031721	NP_079116	WXS	Illumina GAIIx	Phase_I	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	3	534	+		all_neural(266;0.117)	24			KRAB.		Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.70C>T	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898002	0.52227	.	.	ENSG00000176024	ENST00000293471	T	0.02177	4.41	3.32	3.32	0.38043	Krueppel-associated box (4);	0.000000	0.32416	N	0.006122	T	0.04092	0.0114	M	0.68593	2.085	0.80722	D	1	P	0.38617	0.64	B	0.38985	0.287	T	0.48422	-0.9037	10	0.41790	T	0.15	.	12.0854	0.53693	0.0:1.0:0.0:0.0	.	24	Q6PF04	ZN613_HUMAN	F	24	ENSP00000293471:L24F	ENSP00000293471:L24F	L	+	1	0	ZNF613	57135328	0.986000	0.35501	1.000000	0.80357	0.978000	0.69477	0.542000	0.23222	1.879000	0.54435	0.650000	0.86243	CTC		0.512	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		52	78	0	0	0	1	0	52	78					T	52443516	C	T	52443516	3	4	283	1	0	0	0	0	1	0	0	0	18035	797	28	2	76	2	ZNF613	19	52443516	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08	2289187	52443516	6685467	35	4974											
ZNF497	162968	broad.mit.edu	37	19	58868467	58868467	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:58868467G>C	ENST00000311044.3	-	3	723	c.535C>G	c.(535-537)Cac>Gac	p.H179D	A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.H179D|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCTGGTGGTGGATGAGCTGC	0.677																																						uc002qsh.2																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(535-537)Cac>Gac		Homo sapiens zinc finger protein 497 (ZNF497), mRNA.							28	23	25					19																	58868467		2203	4298	6501	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868467G>C	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.535C>G	19.37:g.58868467G>C	ENSP00000311183:p.His179Asp		Somatic				A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.H179D|ZNF497_uc021vcw.1_Missense_Mutation_p.H179D|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	p.H179D	NM_198458	NP_940860	WXS	Illumina GAIIx	Phase_I	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	2	818	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	179					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.535C>G	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594284	0.28445	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.49720	0.77;0.77	0.62	0.62	0.17637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20740	0.0499	N	0.04203	-0.255	0.21290	N	0.999736	B	0.27117	0.168	B	0.30943	0.122	T	0.29882	-0.9997	9	0.13108	T	0.6	.	4.6194	0.12442	0.0:0.0:0.4183:0.5817	.	179	Q6ZNH5	ZN497_HUMAN	D	179;179;24	ENSP00000311183:H179D;ENSP00000402815:H179D	ENSP00000311183:H179D	H	-	1	0	ZNF497	63560279	0.000000	0.05858	0.793000	0.32043	0.769000	0.43574	-0.538000	0.06120	0.576000	0.29452	0.205000	0.17691	CAC		0.677	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		8	22	0	0	0	1	0	8	22					C	58868467	G	C	58868467	3	2	283	1	0	0	0	0	1	0	0	0	17943	1348	47	4	965	4	ZNF497	19	58868467	Missense_Mutation	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	6424951	58868467	260516	36	4975											
BTBD3	22903	broad.mit.edu	37	20	11904148	11904148	+	Missense_Mutation	SNP	C	C	T	rs370789350		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:11904148C>T	ENST00000405977.1	+	5	2028	c.1403C>T	c.(1402-1404)aCa>aTa	p.T468I	BTBD3_ENST00000399006.2_Missense_Mutation_p.T407I|BTBD3_ENST00000378226.2_Missense_Mutation_p.T468I|BTBD3_ENST00000254977.3_Missense_Mutation_p.T407I	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	468					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACCTTCTACACAGCCAGTGTG	0.493																																						uc002wnz.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(1402-1404)aCa>aTa		Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.		C	ILE/THR,ILE/THR	2,4404	4.2+/-10.8	0,2,2201	127	113	118		1403,1220	6.0	1.0	20		118	0,8600		0,0,4300	no	missense,missense	BTBD3	NM_014962.2,NM_181443.1	89,89	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	468/523,407/462	11904148	2,13004	2203	4300	6503	SO:0001583	missense	22903							g.chr20:11904148C>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1403C>T	20.37:g.11904148C>T	ENSP00000384545:p.Thr468Ile		Somatic				BTBD3_uc002wny.3_Missense_Mutation_p.T407I|BTBD3_uc002woa.3_Missense_Mutation_p.T407I|BTBD3_uc010zrf.2_Missense_Mutation_p.T317I|BTBD3_uc010zrg.2_Missense_Mutation_p.T317I|BTBD3_uc010zrh.2_Missense_Mutation_p.T317I	p.T468I	NM_014962	NP_852108	WXS	Illumina GAIIx	Phase_I	Q9Y2F9	BTBD3_HUMAN			3	1762	+			468					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.1403C>T	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872487	0.72180	4.54E-4	0.0	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.79749	-1.27;-1.27;-1.3;-1.3	6.02	6.02	0.97574	PHR (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	D	0.88334	0.2970	10	0.48119	T	0.1	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	468	Q9Y2F9	BTBD3_HUMAN	I	407;407;468;468	ENSP00000254977:T407I;ENSP00000381971:T407I;ENSP00000384545:T468I;ENSP00000367471:T468I	ENSP00000254977:T407I	T	+	2	0	BTBD3	11852148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	ACA		0.493	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			10	33	0	0	0	1	0	10	33					T	11904148	C	T	11904148	3	4	283	1	0	0	0	0	1	0	0	0	1544	478	17	2	1417	2	BTBD3	20	11904148	Missense_Mutation	SNP	C	TCGA-EM-A3O3-01A-11D-A21Z-08		11904148	51121372	37	4976											
NINL	22981	broad.mit.edu	37	20	25507167	25507167	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:25507167G>A	ENST00000278886.6	-	2	130	c.57C>T	c.(55-57)tgC>tgT	p.C19C	NINL_ENST00000422516.1_Silent_p.C19C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGTGGTGTCGCAGCTGCTGT	0.577																																						uc002wux.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(55-57)tgC>tgT		Homo sapiens ninein-like (NINL), mRNA.							131	125	127					20																	25507167		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507167G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.57C>T	20.37:g.25507167G>A			Somatic				NINL_uc010gdn.1_Silent_p.C19C|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.C35C	p.C19C	NM_025176	NP_079452	WXS	Illumina GAIIx	Phase_I	Q9Y2I6	NINL_HUMAN			1	131	-			19			EF-hand 1.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.57C>T	CCDS33452.1																																																																																				0.577	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		48	66	0	0	0	1	0	48	66					A	25507167	G	A	25507167	2	1	283	1	0	0	0	0	0	0	0	1	10420	1079	38	1		1	NINL	20	25507167	Silent	SNP	G	TCGA-EM-A3O3-01A-11D-A21Z-08	13603019	25507167	37518353	38	4977											
KIAA1755	85449	broad.mit.edu	37	20	36869104	36869104	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:36869104T>C	ENST00000279024.4	-	3	1700	c.1429A>G	c.(1429-1431)Aga>Gga	p.R477G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	477										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCTGCCCTCTCAAGAATGAG	0.572																																						uc002xhy.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1429-1431)Aga>Gga		Homo sapiens KIAA1755 (KIAA1755), mRNA.							66	69	68					20																	36869104		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869104T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1429A>G	20.37:g.36869104T>C	ENSP00000279024:p.Arg477Gly		Somatic				KIAA1755_uc002xhz.1_Missense_Mutation_p.R477G	p.R477G	NM_001029864	NP_001025035	WXS	Illumina GAIIx	Phase_I	Q5JYT7	K1755_HUMAN			2	1701	-		Myeloproliferative disorder(115;0.00874)	477					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1429A>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347834	0.24426	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05786	3.39	4.85	3.73	0.42828	.	0.123829	0.36167	N	0.002754	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.37957	-0.9683	10	0.54805	T	0.06	.	6.1261	0.20180	0.0:0.1234:0.0:0.8766	.	477	Q5JYT7	K1755_HUMAN	G	477;24	ENSP00000279024:R477G	ENSP00000279024:R477G	R	-	1	2	KIAA1755	36302518	0.856000	0.29760	0.146000	0.22360	0.329000	0.28539	2.269000	0.43346	0.866000	0.35629	0.533000	0.62120	AGA		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		4	51	0	0	0	1	0	4	51					C	36869104	T	C	36869104	3	2	283	1	0	0	0	0	1	0	0	0	8257	1559	54	3	2221	3	KIAA1755	20	36869104	Missense_Mutation	SNP	T	TCGA-EM-A3O3-01A-11D-A21Z-08	11361937	36869104	26156416	39	4978											
CASZ1	54897	broad.mit.edu	37	1	10713462	10713462	+	Silent	SNP	G	G	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:10713462G>A	ENST00000377022.3	-	11	2969	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	CASZ1_ENST00000344008.5_Silent_p.A884A|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	884					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGCTTGAGGGCAGCTGCAG	0.657																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(2650-2652)gcC>gcT		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.							33	37	36					1																	10713462		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713462G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2652C>T	1.37:g.10713462G>A			Somatic				CASZ1_uc001arp.1_Silent_p.A884A|CASZ1_uc009vmx.2_Silent_p.A908A	p.A884A	NM_001079843	NP_001073312	WXS	Illumina GAIIx	Phase_I	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2972	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	884					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2652C>T	CCDS41246.1																																																																																				0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		27	44	0	0	0	1	0	27	44					A	10713462	G	A	10713462	2	1	284	1	0	0	0	0	0	0	0	1	2685	1219	43	2		2	CASZ1	1	10713462	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		10713462	238537159	1	4979											
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						uc001dwa.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.							183	188	186					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg		Somatic				AKNAD1_uc010ovb.2_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.3_Non-coding_Transcript	p.K620R	NM_152763	NP_689976	WXS	Illumina GAIIx	Phase_I	Q5T1N1	AKND1_HUMAN			10	2128	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		5	251	0	0	0	1	0	5	251					C	109369904	T	C	109369904	3	2	284	1	0	0	0	0	1	0	0	0	464	1609	56	3	675	3	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	98656442	109369904	139880717	2	4980											
ATP1A1	476	broad.mit.edu	37	1	116929945	116929945	+	Silent	SNP	G	G	A	rs147430340		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:116929945G>A	ENST00000295598.5	+	4	471	c.219G>A	c.(217-219)gcG>gcA	p.A73A	ATP1A1_ENST00000537345.1_Silent_p.A73A|ATP1A1_ENST00000369496.4_Silent_p.A42A	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	73					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGATCCTGGCGCGAGATGGTC	0.498																																						uc001ege.3																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(217-219)gcG>gcA		Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	G	,,	0,4406		0,0,2203	90	85	87		219,219,126	2.5	1.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP1A1	NM_000701.7,NM_001160233.1,NM_001160234.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	73/1024,73/1024,42/993	116929945	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116929945G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.219G>A	1.37:g.116929945G>A			Somatic				ATP1A1_uc010owv.1_Silent_p.A42A|ATP1A1_uc010oww.2_Silent_p.A73A|ATP1A1_uc010owx.2_Silent_p.A42A	p.A73A	NM_000701	NP_001153706	WXS	Illumina GAIIx	Phase_I	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	3	558	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	73					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.219G>A	CCDS887.1																																																																																				0.498	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		23	74	0	0	0	1	0	23	74					A	116929945	G	A	116929945	2	1	284	1	0	0	0	0	0	0	0	1	1128	1074	38	1		1	ATP1A1	1	116929945	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08	7560041	116929945	132320676	3	4981											
ZNF669	79862	broad.mit.edu	37	1	247264279	247264279	+	Silent	SNP	T	T	G			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:247264279T>G	ENST00000343381.6	-	4	964	c.792A>C	c.(790-792)tcA>tcC	p.S264S	ZNF669_ENST00000448299.2_Silent_p.S178S|ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	264					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(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTCTTTCAACTGAATTGAGAA	0.363																																						uc001ice.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17						c.(790-792)tcA>tcC		Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.							62	63	63					1																	247264279		2203	4300	6503	SO:0001819	synonymous_variant	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247264279T>G		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"Zinc fingers, C2H2-type", "-"	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.792A>C	1.37:g.247264279T>G			Somatic				ZNF669_uc001icf.2_Silent_p.S178S	p.S264S	NM_024804	NP_079080	WXS	Illumina GAIIx	Phase_I	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		3	965	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		264					B3KP94|Q5VT39|Q9H9Q6	Silent	SNP	ENST00000343381.6	37	c.792A>C	CCDS31088.1																																																																																				0.363	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		5	79	0	0	0	1	0	5	79					G	247264279	T	G	247264279	2	3	284	1	0	0	0	0	0	0	0	1	18073	1567	55	5		5	ZNF669	1	247264279	Silent	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	130334334	247264279	1986342	4	4982											
NEB	4703	broad.mit.edu	37	2	152496938	152496938	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr2:152496938G>C	ENST00000172853.10	-	61	8763	c.8616C>G	c.(8614-8616)caC>caG	p.H2872Q	NEB_ENST00000604864.1_Missense_Mutation_p.H2872Q|NEB_ENST00000397345.3_Missense_Mutation_p.H2872Q|NEB_ENST00000427231.2_Missense_Mutation_p.H2872Q|NEB_ENST00000603639.1_Missense_Mutation_p.H2872Q|NEB_ENST00000409198.1_Missense_Mutation_p.H2872Q			P20929	NEBU_HUMAN	nebulin	2872					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)		ATGTCCACTGGTGCAGGTAGT	0.562																																						uc002txu.3																			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.(8614-8616)caC>caG		Homo sapiens nebulin (NEB), transcript variant 1, mRNA.							215	218	217					2																	152496938		2114	4231	6345	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	g.chr2:152496938G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8616C>G	2.37:g.152496938G>C	ENSP00000172853:p.His2872Gln		Somatic				NEB_uc021vrb.1_Missense_Mutation_p.H2872Q|NEB_uc021vrc.1_Missense_Mutation_p.H2872Q|NEB_uc010fnx.3_Missense_Mutation_p.H2872Q|NEB_uc021vrd.1_Missense_Mutation_p.H2872Q	p.H2872Q	NM_001164507	NP_001157979	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	60	8819	-			2872					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8616C>G		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709396	0.68615	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.07	2.15	0.27550	.	0.122077	0.53938	D	0.000045	T	0.64875	0.2638	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.63207	-0.6689	10	0.35671	T	0.21	.	10.4358	0.44435	0.3461:0.0:0.6539:0.0	.	2872	P20929	NEBU_HUMAN	Q	2872	ENSP00000386259:H2872Q;ENSP00000380505:H2872Q;ENSP00000416578:H2872Q;ENSP00000172853:H2872Q	ENSP00000172853:H2872Q	H	-	3	2	NEB	152205184	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	1.099000	0.31013	0.106000	0.17784	-0.140000	0.14226	CAC		0.562	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		12	299	0	0	0	1	0	12	299					C	152496938	G	C	152496938	3	2	284	1	0	0	0	0	1	0	0	0	10302	1252	44	4	17558	4	NEB	2	152496938	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		152496938	90702435	5	4983											
DHX30	22907	broad.mit.edu	37	3	47859529	47859529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr3:47859529C>T	ENST00000445061.1	+	4	453	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000348968.4_5'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	16						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ccagcacaggcagcgtcagtg	0.607																																						uc003cru.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(46-48)Cag>Tag		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.							162	146	151					3																	47859529		2203	4300	6503	SO:0001587	stop_gained	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	g.chr3:47859529C>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"DEAH-boxes"	16716	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30", "DEAH (Asp-Glu-Ala-His) box polypeptide 30"	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.46C>T	3.37:g.47859529C>T	ENSP00000405620:p.Gln16*		Somatic				DHX30_uc003crs.2_5'UTR|DHX30_uc003crt.3_5'UTR	p.Q16*	NM_138615	NP_619520	WXS	Illumina GAIIx	Phase_I	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	3	472	+			16					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Nonsense_Mutation	SNP	ENST00000445061.1	37	c.46C>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493949	0.96339	.	.	ENSG00000132153	ENST00000445061	.	.	.	5.73	5.73	0.89815	.	1.451470	0.04425	N	0.368273	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.402	0.74849	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000379094:Q16X	Q	+	1	0	DHX30	47834533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	2.706000	0.92434	0.563000	0.77884	CAG		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		56	218	0	0	0	1	0	56	218					T	47859529	C	T	47859529	4	4	284	1	0	0	0	0	0	1	0	0	4504	711	25	2	52	2	DHX30	3	47859529	Nonsense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		47859529	150162901	6	4984											
MARCH6	10299	broad.mit.edu	37	5	10390572	10390572	+	Missense_Mutation	SNP	C	C	T	rs193296973		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:10390572C>T	ENST00000274140.5	+	6	668	c.536C>T	c.(535-537)gCt>gTt	p.A179V	MARCH6_ENST00000449913.2_Missense_Mutation_p.A131V|MARCH6_ENST00000503788.1_Missense_Mutation_p.A74V	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	179					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						TTGGAGCATGCTGCCCCACCG	0.488																																						uc003jet.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(535-537)gCt>gTt		Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.							118	112	114					5																	10390572		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.chr5:10390572C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.536C>T	5.37:g.10390572C>T	ENSP00000274140:p.Ala179Val		Somatic				MARCH6_uc011cmu.1_Missense_Mutation_p.A131V|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.A74V	p.A179V	NM_005885	NP_005876	WXS	Illumina GAIIx	Phase_I	O60337	MARH6_HUMAN			5	719	+			179					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.536C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669157	0.47677	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.44482	1.92;0.92;1.94	5.58	3.62	0.41486	.	0.213810	0.47455	D	0.000239	T	0.20740	0.0499	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.003	T	0.04781	-1.0927	10	0.30078	T	0.28	-12.2215	7.8885	0.29665	0.3942:0.494:0.1118:0.0	.	74;131;179	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	V	131;74;179	ENSP00000414643:A131V;ENSP00000425930:A74V;ENSP00000274140:A179V	ENSP00000274140:A179V	A	+	2	0	MARCH6	10443572	0.997000	0.39634	0.097000	0.21041	0.964000	0.63967	1.765000	0.38481	1.347000	0.45714	0.650000	0.86243	GCT		0.488	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		20	85	0	0	0	1	0	20	85					T	10390572	C	T	10390572	3	4	284	1	0	0	0	0	1	0	0	0	9305	797	28	2	558	2	MARCH6	5	10390572	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		10390572	170524688	7	4985											
PIK3R1	5295	broad.mit.edu	37	5	67592034	67592034	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:67592034C>G	ENST00000521381.1	+	15	2466	c.1850C>G	c.(1849-1851)cCc>cGc	p.P617R	PIK3R1_ENST00000521657.1_Missense_Mutation_p.P617R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P617R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.P317R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P625R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.P347R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.P254R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	617					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAGATTTGCCCCATCATGAT	0.488			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1849-1851)cCc>cGc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						158	144	149					5																	67592034		2203	4300	6503	SO:0001583	missense	5295				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67592034C>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1850C>G	5.37:g.67592034C>G	ENSP00000428056:p.Pro617Arg	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_uc003jvc.3_Missense_Mutation_p.P317R|PIK3R1_uc003jvd.3_Missense_Mutation_p.P347R|PIK3R1_uc003jve.3_Missense_Mutation_p.P296R|PIK3R1_uc021xzn.1_Missense_Mutation_p.P254R	p.P617R	NM_181523	NP_852664	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2430	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	617					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1850C>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794341	0.70452	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;D;D;D	0.83755	-0.57;-0.57;-0.42;-0.57;-1.62;-1.64;-1.76	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.87517	0.6197	M	0.75264	2.295	0.80722	D	1	P;B;D	0.53312	0.578;0.209;0.959	B;B;P	0.49953	0.234;0.127;0.627	D	0.89137	0.3514	10	0.72032	D	0.01	-11.9959	18.8075	0.92043	0.0:1.0:0.0:0.0	.	347;317;617	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	R	617;617;625;617;317;347;254	ENSP00000428056:P617R;ENSP00000429277:P617R;ENSP00000379855:P625R;ENSP00000274335:P617R;ENSP00000323512:P317R;ENSP00000338554:P347R;ENSP00000430098:P254R	ENSP00000274335:P617R	P	+	2	0	PIK3R1	67627790	1.000000	0.71417	0.998000	0.56505	0.343000	0.28985	7.651000	0.83577	2.689000	0.91719	0.650000	0.86243	CCC		0.488	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		34	91	0	0	0	1	0	34	91					G	67592034	C	G	67592034	3	3	284	1	0	0	0	0	1	0	0	0	11918	623	22	4	2034	4	PIK3R1	5	67592034	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	57201462	67592034	113323226	8	4986											
PDGFRB	5159	broad.mit.edu	37	5	149500817	149500817	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:149500817C>T	ENST00000261799.4	-	17	2882	c.2413G>A	c.(2413-2415)Ggc>Agc	p.G805S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|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 chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCTGAAGCCCACGAGGTCC	0.582			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2413-2415)Ggc>Agc		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						119	102	108					5																	149500817		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500817C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2413G>A	5.37:g.149500817C>T	ENSP00000261799:p.Gly805Ser		Somatic				PDGFRB_uc010jhd.3_Missense_Mutation_p.G644S	p.G805S	NM_002609	NP_002600	WXS	Illumina GAIIx	Phase_I	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2882	-		all_hematologic(541;0.224)	805			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2413G>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648965	0.47362	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.81579	-1.51	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000113	T	0.69024	0.3065	N	0.00707	-1.245	0.58432	D	0.999997	B;D	0.89917	0.379;1.0	B;D	0.97110	0.401;1.0	T	0.70107	-0.4963	10	0.02654	T	1	.	18.3011	0.90164	0.0:1.0:0.0:0.0	.	805;805	A8KAM8;P09619	.;PGFRB_HUMAN	S	805;475	ENSP00000261799:G805S	ENSP00000261799:G805S	G	-	1	0	PDGFRB	149481010	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.963000	0.63694	2.319000	0.78375	0.555000	0.69702	GGC		0.582	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		34	75	0	0	0	1	0	34	75					T	149500817	C	T	149500817	3	4	284	1	0	0	0	0	1	0	0	0	11662	623	22	2	935	2	PDGFRB	5	149500817	Missense_Mutation	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	81908783	149500817	31414443	9	4987											
C4A	721	broad.mit.edu	37	6	31996293	31996293	+	Silent	SNP	C	C	A	rs139543260		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:31996293C>A	ENST00000435363.2	+	25	3298	c.3214C>A	c.(3214-3216)Cgg>Agg	p.R1072R	C4B_ENST00000425700.2_Silent_p.R1072R	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1072					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGGTTGTCACGGGGCAGCAG	0.622																																						uc011dpd.2																			0											c.(3214-3216)Cgg>Agg		Homo sapiens complement C4-B-like (LOC100293534), mRNA.							76	62	67					6																	31996293		2166	4200	6366	SO:0001819	synonymous_variant	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31996293C>A	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3214C>A	6.37:g.31996293C>A			Somatic				C4B_uc011dpe.2_Silent_p.R1072R	p.R1072R	NM_001242823	NP_001229752	WXS	Illumina GAIIx	Phase_I	P0C0L5	CO4B_HUMAN			24	3265	+			1072					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000435363.2	37	c.3214C>A	CCDS47405.1																																																																																				0.622	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		3	82	0	0	0	1	0	3	82					A	31996293	C	A	31996293	2	1	284	1	0	0	0	0	0	0	0	1	2247	527	19	4		4	C4A	6	31996293	Silent	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08		31996293	139118774	10	4988											
MYO6	4646	broad.mit.edu	37	6	76551012	76551012	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:76551012T>C	ENST00000369977.3	+	9	872	c.733T>C	c.(733-735)Tat>Cat	p.Y245H	MYO6_ENST00000369981.3_Missense_Mutation_p.Y245H|MYO6_ENST00000369985.4_Missense_Mutation_p.Y245H|MYO6_ENST00000369975.1_Missense_Mutation_p.Y245H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	245	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAAAGAAATTATCATATCTT	0.353																																						uc003pih.1																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(733-735)Tat>Cat		Homo sapiens myosin VI (MYO6), mRNA.							98	100	99					6																	76551012		2203	4300	6503	SO:0001583	missense	4646				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76551012T>C	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.733T>C	6.37:g.76551012T>C	ENSP00000358994:p.Tyr245His		Somatic				MYO6_uc003pig.1_Missense_Mutation_p.Y245H|MYO6_uc003pii.1_Missense_Mutation_p.Y245H	p.Y245H	NM_004999	NP_004990	WXS	Illumina GAIIx	Phase_I	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	8	1012	+		all_hematologic(105;0.189)	245			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.733T>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306778	0.81247	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.99454	4.575	0.80722	D	1	P;D	0.76494	0.856;0.999	P;D	0.83275	0.591;0.996	D	0.96404	0.9299	10	0.72032	D	0.01	.	15.2732	0.73723	0.0:0.0:0.0:1.0	.	245;245	Q9UM54-2;Q9UM54-1	.;.	H	245	ENSP00000358998:Y245H;ENSP00000359002:Y245H;ENSP00000358994:Y245H;ENSP00000358992:Y245H	ENSP00000358992:Y245H	Y	+	1	0	MYO6	76607732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.676000	0.84012	2.009000	0.58944	0.460000	0.39030	TAT		0.353	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		4	92	0	0	0	1	0	4	92					C	76551012	T	C	76551012	3	2	284	1	0	0	0	0	1	0	0	0	10081	1754	61	3	763	3	MYO6	6	76551012	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08	44554719	76551012	94564055	11	4989											
CSMD3	114788	broad.mit.edu	37	8	113259316	113259316	+	Silent	SNP	G	G	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr8:113259316G>A	ENST00000297405.5	-	64	10399	c.10155C>T	c.(10153-10155)ctC>ctT	p.L3385L	CSMD3_ENST00000455883.2_Silent_p.L3216L|CSMD3_ENST00000352409.3_Silent_p.L3315L|CSMD3_ENST00000343508.3_Silent_p.L3345L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3385	Sushi 27. {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						TAGACCCTTGGAGAAGGTGTC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			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.(10153-10155)ctC>ctT		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							134	119	124					8																	113259316		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113259316G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10155C>T	8.37:g.113259316G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Silent_p.L2587L|CSMD3_uc003ynt.3_Silent_p.L3345L|CSMD3_uc011lhx.2_Silent_p.L3216L	p.L3385L	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			63	10314	-			3385			Sushi 27.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10155C>T	CCDS6315.1																																																																																				0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	66	0	0	0	1	0	3	66					A	113259316	G	A	113259316	2	1	284	1	0	0	0	0	0	0	0	1	3946	1161	41	2		2	CSMD3	8	113259316	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		113259316	33104706	12	4990											
PTEN	5728	broad.mit.edu	37	10	89717730	89717730	+	Missense_Mutation	SNP	A	A	T	rs121909239		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr10:89717730A>T	ENST00000371953.3	+	7	2112	c.755A>T	c.(754-756)gAt>gTt	p.D252V	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	252	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		D -> G (in MCEPHAS). {ECO:0000269|PubMed:15805158}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252G(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTGTGGTGATATCAAAGTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.D252Y(4)|p.G251C(4)|p.D252G(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252_K263>AKE(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.D252fs*45(1)|p.G165_K342del(1)|p.G251V(1)|p.G251fs*6(1)|p.D252D(1)	prostate(16)|central_nervous_system(12)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM051216	PTEN	M	rs121909239	c.(754-756)gAt>gTt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							119	105	110					10																	89717730		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717730A>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.755A>T	10.37:g.89717730A>T	ENSP00000361021:p.Asp252Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_uc021pvw.1_Non-coding_Transcript	p.D252V	NM_000314	NP_000305	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1787	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	252		D -> G (in MCEPHAS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.755A>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650844	0.87958	.	.	ENSG00000171862	ENST00000371953	D	0.99214	-5.57	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.092939	0.64402	D	0.000001	D	0.99351	0.9772	M	0.85542	2.76	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	D	0.98880	1.0769	9	.	.	.	-9.9468	14.9657	0.71193	1.0:0.0:0.0:0.0	.	252	P60484	PTEN_HUMAN	V	252	ENSP00000361021:D252V	.	D	+	2	0	PTEN	89707710	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	GAT		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		33	32	0	0	0	1	0	33	32					T	89717730	A	T	89717730	3	4	284	1	0	0	0	0	1	0	0	0	12738	333	12	5	781	5	PTEN	10	89717730	Missense_Mutation	SNP	A	TCGA-EM-A3O6-01A-11D-A21Z-08		89717730	45817017	13	4991											
APAF1	317	broad.mit.edu	37	12	99121092	99121092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr12:99121092delA	ENST00000551964.1	+	26	4334	c.3598delA	c.(3598-3600)aagfs	p.K1200fs	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000357310.1_Frame_Shift_Del_p.K1157fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K1115fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K1146fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K1157fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K1115fs|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K1189fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1200					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGGATATATTAAGGTAAGAGT	0.428																																						uc001tfz.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3598-3600)aagfs		Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	Adenosine triphosphate(DB00171)						60	62	61					12																	99121092		2203	4300	6503	SO:0001589	frameshift_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99121092delA	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3598delA	12.37:g.99121092delA	ENSP00000448165:p.Lys1200fs		Somatic				APAF1_uc001tfy.3_Frame_Shift_Del_p.K1189fs|APAF1_uc001tga.3_Frame_Shift_Del_p.K1146fs|APAF1_uc001tgb.3_Frame_Shift_Del_p.K1157fs|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Frame_Shift_Del_p.K524fs	p.K1200fs	NM_181861	NP_863651	WXS	Illumina GAIIx	Phase_I	O14727	APAF_HUMAN			25	4175	+			1200					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	37	c.3598delA	CCDS9069.1																																																																																				0.428	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		41	69						41	69	---	---	---	---	-	99121092	A	-	99121092	7	5	284	1	0	1	0	1	0	0	0	0	755	363	13	0	3696	0	APAF1	12	99121092	Frame_Shift_Del	DEL	A	TCGA-EM-A3O6-01A-11D-A21Z-08		99121092	34730803	14	4992											
COL4A1	1282	broad.mit.edu	37	13	110857850	110857850	+	Silent	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr13:110857850T>C	ENST00000375820.4	-	16	1015	c.894A>G	c.(892-894)aaA>aaG	p.K298K	COL4A1_ENST00000543140.1_Silent_p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	298	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)			CGGGACTCCCTTTTTCCCCTT	0.463																																						uc001vqw.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.(892-894)aaA>aaG		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							150	175	166					13																	110857850		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857850T>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.894A>G	13.37:g.110857850T>C			Somatic					p.K298K	NM_001845	NP_001836	WXS	Illumina GAIIx	Phase_I	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		15	1016	-	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)	298			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.894A>G	CCDS9511.1																																																																																				0.463	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			5	293	0	0	0	1	0	5	293					C	110857850	T	C	110857850	2	2	284	1	0	0	0	0	0	0	0	1	3689	1606	56	3		3	COL4A1	13	110857850	Silent	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		110857850	4312028	15	4993											
LENG8	114823	broad.mit.edu	37	19	54963317	54963317	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr19:54963317T>C	ENST00000326764.5	+	3	565	c.86T>C	c.(85-87)aTg>aCg	p.M29T	LENG8_ENST00000376514.2_Missense_Mutation_p.M29T	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGAATGGCATGGAGACGCCG	0.617																																						uc002qfv.1																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(85-87)aTg>aCg		Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.							83	82	82					19																	54963317		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54963317T>C	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.86T>C	19.37:g.54963317T>C	ENSP00000318374:p.Met29Thr		Somatic				LENG8_uc002qfw.2_Missense_Mutation_p.M29T	p.M29T			WXS	Illumina GAIIx	Phase_I	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	2	230	+	Ovarian(34;0.19)		29					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.86T>C	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558324	0.45590	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376514;ENST00000376526;ENST00000436479;ENST00000443957;ENST00000431846	T;T;T;T	0.47869	1.41;0.83;1.34;1.35	4.91	4.91	0.64330	.	0.169343	0.49916	D	0.000139	T	0.45558	0.1348	L	0.50333	1.59	0.33178	D	0.549151	B;B	0.32160	0.13;0.358	B;B	0.35971	0.069;0.215	T	0.63024	-0.6729	10	0.72032	D	0.01	-23.1417	12.8068	0.57618	0.0:0.0:0.0:1.0	.	29;29	Q96PV6-2;F8W9Q9	.;.	T	29;29;29;29;29;11;29;29	ENSP00000318374:M29T;ENSP00000399507:M29T;ENSP00000365709:M29T;ENSP00000388053:M29T	ENSP00000301196:M29T	M	+	2	0	LENG8	59655129	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.039000	0.49791	1.988000	0.58038	0.459000	0.35465	ATG		0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		4	125	0	0	0	1	0	4	125					C	54963317	T	C	54963317	3	2	284	1	0	0	0	0	1	0	0	0	8724	1464	51	3	92	3	LENG8	19	54963317	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		54963317	4165666	16	4994											
ACSS1	84532	broad.mit.edu	37	20	24988532	24988532	+	Missense_Mutation	SNP	G	G	A	rs371113008		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr20:24988532G>A	ENST00000323482.4	-	14	2015	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	ACSS1_ENST00000537502.1_Missense_Mutation_p.R563W|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000542618.1_Missense_Mutation_p.R525W|ACSS1_ENST00000432802.2_Intron	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	646					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCAGGAGCCGCCGCATGACC	0.567																																						uc002wub.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1936-1938)Cgg>Tgg		Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	G	TRP/ARG	0,4406		0,0,2203	102	84	90		1936	2.6	1.0	20		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSS1	NM_032501.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	646/690	24988532	1,13005	2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding	g.chr20:24988532G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1936C>T	20.37:g.24988532G>A	ENSP00000316924:p.Arg646Trp		Somatic				ACSS1_uc002wuc.3_Missense_Mutation_p.R644W|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Missense_Mutation_p.R441W|ACSS1_uc002wua.3_Missense_Mutation_p.R563W|ACSS1_uc021wbl.1_Missense_Mutation_p.R525W|ACSS1_uc002wud.1_Non-coding_Transcript	p.R646W	NM_032501	NP_115890	WXS	Illumina GAIIx	Phase_I	Q9NUB1	ACS2L_HUMAN			13	2016	-			646					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1936C>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779899	0.70222	0.0	1.16E-4	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.55234	0.53;0.53;0.53	5.78	2.57	0.30868	.	0.055148	0.64402	D	0.000001	T	0.80053	0.4553	H	0.96333	3.805	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;1.0;1.0;1.0	D	0.84883	0.0832	10	0.87932	D	0	-29.8871	14.1574	0.65426	0.0:0.0:0.3486:0.6513	.	441;644;646;563	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	W	646;441;563;525	ENSP00000316924:R646W;ENSP00000439304:R563W;ENSP00000437657:R525W	ENSP00000316924:R646W	R	-	1	2	ACSS1	24936532	0.988000	0.35896	0.999000	0.59377	0.836000	0.47400	0.806000	0.27126	0.229000	0.21039	-0.181000	0.13052	CGG		0.567	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		3	75	0	0	0	1	0	3	75					A	24988532	G	A	24988532	3	1	284	1	0	0	0	0	1	0	0	0	188	1086	38	1	137	1	ACSS1	20	24988532	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		24988532	38036988	17	4995											
KRTAP27-1	643812	broad.mit.edu	37	21	31709485	31709485	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr21:31709485G>C	ENST00000382835.2	-	1	527	c.502C>G	c.(502-504)Cct>Gct	p.P168A		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	168						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGGATTCAGGGTTCTGAGAC	0.478																																						uc002ynx.1																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(502-504)Cct>Gct		Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.							127	121	123					21																	31709485		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709485G>C	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"Keratin associated proteins"	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.502C>G	21.37:g.31709485G>C	ENSP00000372286:p.Pro168Ala		Somatic					p.P168A	NM_001077711	NP_001071179	WXS	Illumina GAIIx	Phase_I	Q3LI81	KR271_HUMAN			0	528	-			168						Missense_Mutation	SNP	ENST00000382835.2	37	c.502C>G	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	G	9.098	1.003480	0.19121	.	.	ENSG00000206107	ENST00000382835	T	0.03035	4.07	4.44	-4.86	0.03132	.	0.768720	0.11352	N	0.572873	T	0.04272	0.0118	L	0.40543	1.245	0.09310	N	1	P	0.39216	0.664	B	0.42030	0.373	T	0.10965	-1.0607	10	0.30854	T	0.27	0.0248	12.7862	0.57507	0.7507:0.0:0.2493:0.0	.	168	Q3LI81	KR271_HUMAN	A	168	ENSP00000372286:P168A	ENSP00000372286:P168A	P	-	1	0	KRTAP27-1	30631356	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.278000	0.02809	-1.183000	0.02723	-0.237000	0.12165	CCT		0.478	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		5	113	0	0	0	1	0	5	113					C	31709485	G	C	31709485	3	2	284	1	0	0	0	0	1	0	0	0	8544	1232	43	4	125	4	KRTAP27-1	21	31709485	Missense_Mutation	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		31709485	16420410	18	4996											
TCF20	6942	broad.mit.edu	37	22	42610592	42610592	+	Silent	SNP	G	G	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr22:42610592G>A	ENST00000359486.3	-	1	856	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_ENST00000335626.4_Silent_p.S240S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	240	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512																																						uc003bcj.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(718-720)tcC>tcT		Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.							97	82	87					22																	42610592		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610592G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.720C>T	22.37:g.42610592G>A			Somatic				TCF20_uc003bck.1_Silent_p.S240S	p.S240S	NM_005650	NP_005641	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			0	854	-			240			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.720C>T	CCDS14033.1																																																																																				0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		3	70	0	0	0	1	0	3	70					A	42610592	G	A	42610592	2	1	284	1	0	0	0	0	0	0	0	1	15687	987	35	2		2	TCF20	22	42610592	Silent	SNP	G	TCGA-EM-A3O6-01A-11D-A21Z-08		42610592	8693974	19	4997											
BCOR	54880	broad.mit.edu	37	X	39922927	39922927	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chrX:39922927T>C	ENST00000378444.4	-	8	4009	c.3781A>G	c.(3781-3783)Agg>Ggg	p.R1261G	BCOR_ENST00000397354.3_Missense_Mutation_p.R1227G|BCOR_ENST00000378463.1_Missense_Mutation_p.R104G|BCOR_ENST00000378455.4_Missense_Mutation_p.R1209G|BCOR_ENST00000342274.4_Missense_Mutation_p.R1227G	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1261					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						GCCTCTGCCCTTTTCCTGCCA	0.562			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		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.(3781-3783)Agg>Ggg		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							223	173	190					X																	39922927		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:39922927T>C	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3781A>G	X.37:g.39922927T>C	ENSP00000367705:p.Arg1261Gly		Somatic				BCOR_uc004dep.4_Missense_Mutation_p.R1227G|BCOR_uc004deo.4_Missense_Mutation_p.R1209G|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Missense_Mutation_p.R1227G	p.R1261G	NM_001123385	NP_001116857	WXS	Illumina GAIIx	Phase_I	Q6W2J9	BCOR_HUMAN			7	4073	-			1261					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3781A>G	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211227	0.39102	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.71817	-0.6;0.78;0.9;0.88;0.8;0.88	5.67	4.51	0.55191	.	.	.	.	.	T	0.53965	0.1829	N	0.14661	0.345	0.32452	N	0.545286	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57335	-0.7829	9	0.56958	D	0.05	-13.4236	10.7751	0.46346	0.0:0.075:0.0:0.925	.	1209;1261;1227	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	G	131;104;1209;1227;1261;1227;1227	ENSP00000408006:R131G;ENSP00000367724:R104G;ENSP00000367716:R1209G;ENSP00000380512:R1227G;ENSP00000367705:R1261G;ENSP00000345923:R1227G	ENSP00000345923:R1227G	R	-	1	2	BCOR	39807871	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.552000	0.60747	0.784000	0.33661	0.430000	0.28490	AGG		0.562	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	240	0	0	0	1	0	3	240					C	39922927	T	C	39922927	3	2	284	1	0	0	0	0	1	0	0	0	1386	1608	56	3	1518	3	BCOR	23	39922927	Missense_Mutation	SNP	T	TCGA-EM-A3O6-01A-11D-A21Z-08		39922927	115347633	20	4998											
PHF8	23133	broad.mit.edu	37	X	54048691	54048691	+	Splice_Site	SNP	C	C	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chrX:54048691C>A	ENST00000357988.5	-	4	760		c.e4+1		PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000338154.6_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGGTTCCTCACCTGTCAAAAG	0.572																																						uc004dsu.3																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.e4+1		Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.							99	85	90					X																	54048691		2203	4300	6503	SO:0001630	splice_region_variant	23133				G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54048691C>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.401+1G>T	X.37:g.54048691C>A			Somatic				PHF8_uc004dst.3_Splice_Site_p.S98_splice|PHF8_uc004dsw.3_Splice_Site_p.S98_splice|PHF8_uc004dsy.3_Splice_Site_p.S98_splice	p.S134_splice	NM_001184896	NP_055922	WXS	Illumina GAIIx	Phase_I	Q9UPP1	PHF8_HUMAN			4	647	-			134					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	SNP	ENST00000357988.5	37	c.401_splice	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848703	0.71603	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000396282;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8256	0.78703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF8	54065416	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.781000	0.75068	2.335000	0.79485	0.600000	0.82982	.		0.572	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	Intron	32	82	0	0	0	1	0	32	82					A	54048691	C	A	54048691	5	1	284	1	0	0	0	0	0	0	1	0	11840	521	18	4	3026	4	PHF8	23	54048691	Splice_Site	SNP	C	TCGA-EM-A3O6-01A-11D-A21Z-08	14125764	54048691	101221869	21	4999											
PIP5K1A	8394	broad.mit.edu	37	1	151196719	151196719	+	Splice_Site	SNP	A	A	G			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151196719A>G	ENST00000368888.4	+	2	507		c.e2-1		PIP5K1A_ENST00000368890.4_Intron|PIP5K1A_ENST00000409426.1_Splice_Site|PIP5K1A_ENST00000441902.2_Splice_Site	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha						actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			TTTCCCCCCTAGCAGCATCTG	0.383																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.3																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.e2-2		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.							217	206	210					1																	151196719		2203	4300	6503	SO:0001630	splice_region_variant	8394				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151196719A>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.86-1A>G	1.37:g.151196719A>G			Somatic				PIP5K1A_uc021oyo.1_Splice_Site_p.A29_splice|PIP5K1A_uc001exi.3_Intron|PIP5K1A_uc010pcu.2_Splice_Site_p.A29_splice|PIP5K1A_uc001exk.3_Intron	p.A29_splice	NM_001135638	NP_001129110	WXS	Illumina GAIIx	Phase_I	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	538	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		29					A8K4Q0|B4DIN0|Q99754|Q99756	Splice_Site	SNP	ENST00000368888.4	37	c.86_splice	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	A	3.738	-0.054232	0.07362	.	.	ENSG00000143398	ENST00000409426;ENST00000441902;ENST00000368888	.	.	.	4.36	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.36825	D	0.886572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5007	0.22168	0.8927:0.0:0.1073:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIP5K1A	149463343	0.556000	0.26538	0.475000	0.27278	0.083000	0.17756	0.688000	0.25422	1.018000	0.39521	0.409000	0.27619	.		0.383	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557	Intron	3	126	0	0	0	1	0	3	126					G	151196719	A	G	151196719	5	3	285	1	0	0	0	0	0	0	1	0	11939	434	15	3	90	3	PIP5K1A	1	151196719	Splice_Site	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		151196719	98053902	1	5000											
POGZ	23126	broad.mit.edu	37	1	151377730	151377730	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151377730T>A	ENST00000271715.2	-	19	4095	c.3781A>T	c.(3781-3783)Att>Ttt	p.I1261F	POGZ_ENST00000531094.1_Missense_Mutation_p.I1199F|POGZ_ENST00000361398.3_Missense_Mutation_p.I1208F|POGZ_ENST00000392723.1_Missense_Mutation_p.I1208F|POGZ_ENST00000491586.1_Missense_Mutation_p.I1217F|POGZ_ENST00000368863.2_Missense_Mutation_p.I1166F|POGZ_ENST00000409503.1_Missense_Mutation_p.I1252F|POGZ_ENST00000540984.1_Missense_Mutation_p.I623F	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1261	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATGGCTGAATTTTGGAGCTA	0.468																																						uc001eyd.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3781-3783)Att>Ttt		Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.							138	139	139					1																	151377730		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377730T>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3781A>T	1.37:g.151377730T>A	ENSP00000271715:p.Ile1261Phe		Somatic				POGZ_uc021oyq.1_Missense_Mutation_p.I1208F|POGZ_uc010pdb.2_Missense_Mutation_p.I1252F|POGZ_uc010pdc.2_Missense_Mutation_p.I1199F|POGZ_uc009wmv.2_Missense_Mutation_p.I1166F|POGZ_uc001eyf.2_Missense_Mutation_p.I1217F|POGZ_uc010pdd.2_Missense_Mutation_p.I752F	p.I1261F	NM_015100	NP_055915	WXS	Illumina GAIIx	Phase_I	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		18	4096	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1261			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3781A>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335561	0.41398	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.85	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.32941	0.0846	N	0.14661	0.345	0.40975	D	0.98473	D;D;D;D;D;D	0.58970	0.968;0.961;0.984;0.984;0.96;0.961	D;P;D;D;D;P	0.70487	0.969;0.757;0.964;0.964;0.948;0.757	T	0.33137	-0.9880	10	0.54805	T	0.06	-23.1408	10.3222	0.43773	0.0:0.0773:0.0:0.9227	.	1199;1252;1166;1217;1208;1261	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	F	1208;1261;1208;1166;1252;1199;623;1217	ENSP00000376484:I1208F;ENSP00000271715:I1261F;ENSP00000354467:I1208F;ENSP00000357856:I1166F;ENSP00000386836:I1252F;ENSP00000431259:I1199F;ENSP00000443547:I623F;ENSP00000418408:I1217F	ENSP00000271715:I1261F	I	-	1	0	POGZ	149644354	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	3.107000	0.50329	2.235000	0.73313	0.402000	0.26972	ATT		0.468	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		8	192	0	0	0	1	0	8	192					A	151377730	T	A	151377730	3	1	285	1	0	0	0	0	1	0	0	0	12186	1493	52	5	455	5	POGZ	1	151377730	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	181011	151377730	97872891	2	5001											
ARHGEF2	9181	broad.mit.edu	37	1	155932417	155932417	+	Silent	SNP	G	G	A	rs370489054		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:155932417G>A	ENST00000361247.4	-	9	1167	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000462460.2_Silent_p.Y401Y|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.Y328Y|ARHGEF2_ENST00000368315.4_Silent_p.Y357Y	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557																																					Melanoma(178;35 2768 6610 28839)	uc001fmu.2																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1198-1200)taC>taT		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	87	88	88		1068,1065,984	-7.2	0.8	1		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	356/987,355/986,328/959	155932417	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	g.chr1:155932417G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1068C>T	1.37:g.155932417G>A			Somatic				ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y	p.Y400Y	NM_004723	NP_004714	WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			12	1455	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		356			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.1200C>T	CCDS53376.1																																																																																				0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		3	68	0	0	0	1	0	3	68					A	155932417	G	A	155932417	2	1	285	1	0	0	0	0	0	0	0	1	903	1140	40	1		1	ARHGEF2	1	155932417	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	4554687	155932417	93318204	3	5002											
TRIM67	440730	broad.mit.edu	37	1	231299576	231299576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:231299576delG	ENST00000366653.5	+	1	861	c.861delG	c.(859-861)gcgfs	p.A287fs	TRIM67_ENST00000366652.2_Frame_Shift_Del_p.A287fs|TRIM67_ENST00000449018.3_Frame_Shift_Del_p.A225fs|TRIM67_ENST00000444294.3_Frame_Shift_Del_p.A287fs			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	287					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)				CGGGAGGCGCGGGGGCGGGGG	0.756																																						uc009xfn.1																			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.(859-861)gcgfs		Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.																																				SO:0001589	frameshift_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299576delG	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.861delG	1.37:g.231299576delG	ENSP00000355613:p.Ala287fs		Somatic					p.A287fs	NM_001004342	NP_001004342	WXS	Illumina GAIIx	Phase_I	Q6ZTA4	TRI67_HUMAN			0	903	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	287					Q5TER7|Q5TER8|Q7Z4K7	Frame_Shift_Del	DEL	ENST00000366653.5	37	c.861delG	CCDS44333.1																																																																																				0.756	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		2	4						2	4	---	---	---	---	-	231299576	G	-	231299576	7	5	285	1	0	1	0	1	0	0	0	0	16537	1103	39	0	863	0	TRIM67	1	231299576	Frame_Shift_Del	DEL	G	TCGA-EM-A3O7-01A-11D-A21Z-08	75367159	231299576	17951045	4	5003											
FAM123C	205147	broad.mit.edu	37	2	131521451	131521451	+	Silent	SNP	G	G	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:131521451G>A	ENST00000423981.1	+	2	1916	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	AMER3_ENST00000321420.4_Silent_p.E602E	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	602					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCTCTCGAGAGGAAGAGACAC	0.592																																						uc002trw.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1804-1806)gaG>gaA		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							70	75	73					2																	131521451		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131521451G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1806G>A	2.37:g.131521451G>A			Somatic				FAM123C_uc010fmv.2_Silent_p.E602E|FAM123C_uc010fms.1_Silent_p.E602E|FAM123C_uc010fmt.1_Silent_p.E602E|FAM123C_uc010fmu.1_Silent_p.E602E|FAM123C_uc021voy.1_Silent_p.E602E	p.E602E	NM_152698	NP_689911	WXS	Illumina GAIIx	Phase_I	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	1	1996	+	Colorectal(110;0.1)		602					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1806G>A	CCDS2164.1																																																																																				0.592	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		3	86	0	0	0	1	0	3	86					A	131521451	G	A	131521451	2	1	285	1	0	0	0	0	0	0	0	1	5424	991	35	2		2	FAM123C	2	131521451	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08		131521451	111677922	5	5004											
WIPF1	7456	broad.mit.edu	37	2	175437077	175437077	+	Silent	SNP	C	C	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:175437077C>T	ENST00000392547.2	-	5	555	c.456G>A	c.(454-456)gtG>gtA	p.V152V	WIPF1_ENST00000392546.2_Silent_p.V152V|WIPF1_ENST00000272746.5_Silent_p.V152V|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.V152V|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000359761.3_Silent_p.V152V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Silent_p.V152V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	152					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTGGAGAAGGCACAGGAAACC	0.602																																						uc010fqt.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(454-456)gtG>gtA		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							43	50	48					2																	175437077		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175437077C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.456G>A	2.37:g.175437077C>T			Somatic				BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.V152V|WIPF1_uc002ujc.1_Silent_p.V152V|WIPF1_uc002uiz.3_Silent_p.V152V|WIPF1_uc002ujb.2_Silent_p.V152V|WIPF1_uc010zep.1_Silent_p.V152V	p.V152V	NM_003387	NP_003378	WXS	Illumina GAIIx	Phase_I	O43516	WIPF1_HUMAN			4	620	-			152					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.456G>A	CCDS2260.1																																																																																				0.602	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		6	42	0	0	0	1	0	6	42					T	175437077	C	T	175437077	2	4	285	1	0	0	0	0	0	0	0	1	17364	697	25	2		2	WIPF1	2	175437077	Silent	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08	43915626	175437077	67762296	6	5005											
SESTD1	91404	broad.mit.edu	37	2	179997121	179997121	+	Silent	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:179997121T>C	ENST00000428443.3	-	10	1198	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	294							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTTAGTTGTTCTGATCCAG	0.443																																						uc002uni.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(880-882)gaA>gaG		Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.							125	133	130					2																	179997121		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179997121T>C	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.882A>G	2.37:g.179997121T>C			Somatic					p.E294E	NM_178123	NP_835224	WXS	Illumina GAIIx	Phase_I	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1032	-			294					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.882A>G	CCDS33338.1																																																																																				0.443	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		4	142	0	0	0	1	0	4	142					C	179997121	T	C	179997121	2	2	285	1	0	0	0	0	0	0	0	1	14127	1722	60	3		3	SESTD1	2	179997121	Silent	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	4560044	179997121	63202252	7	5006											
TNS1	7145	broad.mit.edu	37	2	218713453	218713453	+	Missense_Mutation	SNP	G	G	A	rs376414331		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:218713453G>A	ENST00000171887.4	-	17	1864	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	TNS1_ENST00000430930.1_Missense_Mutation_p.S471L|TNS1_ENST00000419504.1_Missense_Mutation_p.S471L|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	471					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGCACAGCCGAGCCCCCTGC	0.632																																						uc002vgt.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1411-1413)tCg>tTg		Homo sapiens tensin 1 (TNS1), mRNA.		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	64	67	66		1412	3.1	0.0	2		66	0,8600		0,0,4300	no	missense	TNS1	NM_022648.4	145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	471/1736	218713453	2,13004	2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713453G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1412C>T	2.37:g.218713453G>A	ENSP00000171887:p.Ser471Leu		Somatic				TNS1_uc002vgr.2_Missense_Mutation_p.S471L|TNS1_uc002vgs.2_Missense_Mutation_p.S471L|TNS1_uc010zjv.1_Missense_Mutation_p.S471L|TNS1_uc010fvj.1_Missense_Mutation_p.S539L|TNS1_uc010fvk.1_Missense_Mutation_p.S596L|TNS1_uc010fvi.1_Missense_Mutation_p.S158L	p.S471L	NM_022648	NP_072174	WXS	Illumina GAIIx	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	16	1810	-		Renal(207;0.0483)|Lung NSC(271;0.213)	471					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1412C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.244118	0.01481	4.54E-4	0.0	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93859	-2.79;-2.79;-2.79;-3.3	4.9	3.1	0.35709	.	0.424346	0.21661	N	0.071019	D	0.85561	0.5725	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.69859	-0.5031	10	0.18710	T	0.47	.	5.8788	0.18844	0.0891:0.0:0.5727:0.3382	.	471;525;471;471;471	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	L	471;471;471;596	ENSP00000171887:S471L;ENSP00000408724:S471L;ENSP00000406016:S471L;ENSP00000405460:S596L	ENSP00000171887:S471L	S	-	2	0	TNS1	218421698	0.146000	0.22672	0.005000	0.12908	0.012000	0.07955	1.304000	0.33482	0.671000	0.31185	-1.288000	0.01363	TCG		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	92	0	0	0	1	0	3	92					A	218713453	G	A	218713453	3	1	285	1	0	0	0	0	1	0	0	0	16340	1059	37	1	3863	1	TNS1	2	218713453	Missense_Mutation	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	38716332	218713453	24485920	8	5007											
LARS2	23395	broad.mit.edu	37	3	45533062	45533062	+	Silent	SNP	G	G	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr3:45533062G>A	ENST00000415258.1	+	12	1434	c.1293G>A	c.(1291-1293)cgG>cgA	p.R431R	LARS2_ENST00000414984.1_Silent_p.R388R|LARS2_ENST00000265537.3_Silent_p.R431R|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	431					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAAAGCCCGGGGGAAGAGAG	0.542																																						uc003cop.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1291-1293)cgG>cgA		Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Leucine(DB00149)						107	108	108					3																	45533062		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45533062G>A	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1293G>A	3.37:g.45533062G>A			Somatic				LARS2_uc010hit.1_Silent_p.R388R	p.R431R	NM_015340	NP_056155	WXS	Illumina GAIIx	Phase_I	Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	12	1478	+			431						Silent	SNP	ENST00000415258.1	37	c.1293G>A	CCDS2728.1																																																																																				0.542	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		3	75	0	0	0	1	0	3	75					A	45533062	G	A	45533062	2	1	285	1	0	0	0	0	0	0	0	1	8635	1219	43	2		2	LARS2	3	45533062	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08		45533062	152489368	9	5008											
SLC39A7	7922	broad.mit.edu	37	6	33169616	33169616	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:33169616T>A	ENST00000374677.3	+	2	879	c.506T>A	c.(505-507)cTt>cAt	p.L169H	RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.L169H|RXRB_ENST00000374685.4_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	169					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)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CGCTCTCTACTTCAGATCTTG	0.537																																						uc003odf.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(505-507)cTt>cAt		Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.							133	148	143					6																	33169616		1291	2550	3841	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169616T>A	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.506T>A	6.37:g.33169616T>A	ENSP00000363809:p.Leu169His		Somatic				RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.L169H|SLC39A7_uc011dqv.2_Missense_Mutation_p.L44H|HSD17B8_uc003odi.1_5'Flank	p.L169H	NM_001077516	NP_008910	WXS	Illumina GAIIx	Phase_I	Q92504	S39A7_HUMAN			2	623	+			169					B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.506T>A	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.834830	0.71373	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000374677	T;T;T	0.59772	0.24;0.24;0.24	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85701	0.1313	10	0.87932	D	0	-13.6345	12.4856	0.55871	0.0:0.0:0.0:1.0	.	150;169	B4DVK8;Q92504	.;S39A7_HUMAN	H	79;169;150;169	ENSP00000400978:L79H;ENSP00000363807:L169H;ENSP00000363809:L169H	ENSP00000363807:L169H	L	+	2	0	SLC39A7	33277594	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.821000	0.75272	2.056000	0.61249	0.448000	0.29417	CTT		0.537	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		69	63	0	0	0	1	0	69	63					A	33169616	T	A	33169616	3	1	285	1	0	0	0	0	1	0	0	0	14623	1609	56	5	512	5	SLC39A7	6	33169616	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		33169616	137945451	10	5009											
FAM83B	222584	broad.mit.edu	37	6	54805631	54805631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:54805631C>A	ENST00000306858.7	+	5	1978	c.1862C>A	c.(1861-1863)tCa>tAa	p.S621*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	621										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAACCACTCAGTAGCCTTA	0.398																																						uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1861-1863)tCa>tAa		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							50	48	49					6																	54805631		2197	4284	6481	SO:0001587	stop_gained	222584							g.chr6:54805631C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1862C>A	6.37:g.54805631C>A	ENSP00000304078:p.Ser621*		Somatic					p.S621*	NM_001010872	NP_001010872	WXS	Illumina GAIIx	Phase_I	Q5T0W9	FA83B_HUMAN			4	1978	+	Lung NSC(77;0.0178)|Renal(3;0.122)		621					Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	c.1862C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304362	0.40795	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.55	3.67	0.42095	.	0.682891	0.13723	N	0.367229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5309	5.5151	0.16902	0.1912:0.6231:0.1059:0.0799	.	.	.	.	X	621	.	ENSP00000304078:S621X	S	+	2	0	FAM83B	54913590	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	0.379000	0.20585	1.486000	0.48398	0.655000	0.94253	TCA		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		3	54	0	0	0	1	0	3	54					A	54805631	C	A	54805631	4	1	285	1	0	0	0	0	0	1	0	0	5634	838	29	4	1876	4	FAM83B	6	54805631	Nonsense_Mutation	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08	21636015	54805631	116309436	11	5010											
VNN2	8875	broad.mit.edu	37	6	133065566	133065566	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:133065566A>G	ENST00000326499.6	-	7	1560	c.1436T>C	c.(1435-1437)cTc>cCc	p.L479P	VNN2_ENST00000525289.1_Missense_Mutation_p.L258P|VNN2_ENST00000525270.1_Missense_Mutation_p.L426P	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	479					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCTCCCAAAGAGTGACACTGT	0.403																																						uc003qdt.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1435-1437)cTc>cCc		Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.							144	129	134					6																	133065566		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133065566A>G	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1436T>C	6.37:g.133065566A>G	ENSP00000322276:p.Leu479Pro		Somatic				VNN2_uc003qds.3_Missense_Mutation_p.L188P|VNN2_uc010kgb.3_Missense_Mutation_p.L258P|VNN2_uc003qdv.3_Missense_Mutation_p.L426P	p.L479P	NM_004665	NP_004656	WXS	Illumina GAIIx	Phase_I	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	6	1447	-			479					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1436T>C	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704908	0.30232	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.89875	-2.58;-2.58;-2.58	4.53	4.53	0.55603	.	0.000000	0.53938	D	0.000054	D	0.92113	0.7500	M	0.80508	2.5	0.27303	N	0.957511	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87058	0.2151	10	0.87932	D	0	-7.9479	12.0751	0.53638	1.0:0.0:0.0:0.0	.	258;479	O95498-2;O95498	.;VNN2_HUMAN	P	479;426;258	ENSP00000322276:L479P;ENSP00000436822:L426P;ENSP00000436935:L258P	ENSP00000322276:L479P	L	-	2	0	VNN2	133107259	0.949000	0.32298	0.178000	0.23040	0.010000	0.07245	5.274000	0.65569	1.784000	0.52394	0.533000	0.62120	CTC		0.403	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			50	51	0	0	0	1	0	50	51					G	133065566	A	G	133065566	3	3	285	1	0	0	0	0	1	0	0	0	17180	304	11	3	130	3	VNN2	6	133065566	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08	78259935	133065566	38049501	12	5011											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		54	70	0	0	0	1	0	54	70					T	140453136	A	T	140453136	3	4	285	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		140453136	18685527	13	5012											
NOL6	65083	broad.mit.edu	37	9	33468782	33468782	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr9:33468782T>C	ENST00000379471.2	-	8	1202	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.Y312C			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	372					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGGACCTGGTAGCCACTCAT	0.547																																						uc003zsz.3																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1114-1116)tAc>tGc		Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.							180	185	183					9																	33468782		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468782T>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1115A>G	9.37:g.33468782T>C	ENSP00000368784:p.Tyr372Cys		Somatic				NOL6_uc003zta.3_Missense_Mutation_p.Y372C|NOL6_uc010mjv.3_Missense_Mutation_p.Y372C|NOL6_uc011lob.2_Missense_Mutation_p.Y312C|NOL6_uc003ztb.1_Missense_Mutation_p.Y372C	p.Y372C	NM_022917	NP_075068	WXS	Illumina GAIIx	Phase_I	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	7	1216	-			372					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1115A>G		.	.	.	.	.	.	.	.	.	.	T	15.86	2.957245	0.53400	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.08	5.08	0.68730	.	0.127211	0.53938	D	0.000043	T	0.71600	0.3359	M	0.73430	2.235	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	0.85130	0.997;0.994;0.992;0.991;0.997	T	0.74368	-0.3688	10	0.52906	T	0.07	.	14.5069	0.67758	0.0:0.0:0.0:1.0	.	312;372;372;372;372	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	C	372;372;372;372;312	ENSP00000313978:Y372C;ENSP00000297990:Y372C;ENSP00000368784:Y372C;ENSP00000395915:Y312C	ENSP00000297990:Y372C	Y	-	2	0	NOL6	33458782	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.560000	0.67332	1.925000	0.55765	0.459000	0.35465	TAC		0.547	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		4	314	0	0	0	1	0	4	314					C	33468782	T	C	33468782	3	2	285	1	0	0	0	0	1	0	0	0	10525	1638	57	3	2401	3	NOL6	9	33468782	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		33468782	107744649	14	5013											
TMEM132A	54972	broad.mit.edu	37	11	60695172	60695172	+	Silent	SNP	C	C	G	rs373484312		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr11:60695172C>G	ENST00000453848.2	+	3	533	c.375C>G	c.(373-375)gcC>gcG	p.A125A	TMEM132A_ENST00000005286.4_Silent_p.A125A|RP11-881M11.4_ENST00000543907.1_RNA			Q24JP5	T132A_HUMAN	transmembrane protein 132A	125						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						ACGTGCGGGCCGTTTCAGTGG	0.632																																						uc001nqi.3																			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.(373-375)gcC>gcG		Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.							79	88	85					11																	60695172		2202	4299	6501	SO:0001819	synonymous_variant	54972					Golgi membrane|endoplasmic reticulum membrane|integral to membrane		g.chr11:60695172C>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.375C>G	11.37:g.60695172C>G			Somatic				TMEM132A_uc001nqj.3_Silent_p.A125A|TMEM132A_uc001nqk.3_Silent_p.A138A|TMEM132A_uc001nql.1_Silent_p.A138A	p.A125A	NM_017870	NP_060340	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			2	568	+			125					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.375C>G	CCDS44618.1																																																																																				0.632	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		13	132	0	0	0	1	0	13	132					G	60695172	C	G	60695172	2	3	285	1	0	0	0	0	0	0	0	1	16042	639	23	4		4	TMEM132A	11	60695172	Silent	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08		60695172	74311344	15	5014											
TAS2R20	259295	broad.mit.edu	37	12	11149659	11149659	+	Silent	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:11149659T>C	ENST00000538986.1	-	1	815	c.816A>G	c.(814-816)ccA>ccG	p.P272P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	272					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTGGAATGATGGATATATGA	0.393																																						uc001qzm.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(814-816)ccA>ccG		Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.							113	113	113					12																	11149659		2203	4300	6503	SO:0001819	synonymous_variant	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149659T>C	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.816A>G	12.37:g.11149659T>C			Somatic				PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.P272P	NM_176889	NP_795370	WXS	Illumina GAIIx	Phase_I	P59543	T2R20_HUMAN			0	816	-			272					P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	c.816A>G	CCDS8639.1																																																																																				0.393	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		7	93	0	0	0	1	0	7	93					C	11149659	T	C	11149659	2	2	285	1	0	0	0	0	0	0	0	1	15568	1451	51	3		3	TAS2R20	12	11149659	Silent	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		11149659	122702236	16	5015											
PDZRN4	29951	broad.mit.edu	37	12	41967097	41967097	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:41967097G>T	ENST00000402685.2	+	10	2524	c.2516G>T	c.(2515-2517)aGa>aTa	p.R839I	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R581I|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R579I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	839							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCCTCATATAGATATGCAAAC	0.473																																						uc010skn.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2515-2517)aGa>aTa		Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.							142	149	146					12																	41967097		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967097G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2516G>T	12.37:g.41967097G>T	ENSP00000384197:p.Arg839Ile		Somatic				PDZRN4_uc001rmq.4_Missense_Mutation_p.R581I|PDZRN4_uc009zjz.3_Missense_Mutation_p.R579I|PDZRN4_uc001rmr.3_Missense_Mutation_p.R466I	p.R839I	NM_001164595	NP_001158067	WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			9	2524	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	839					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2516G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644240	0.47258	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.45276	0.9;0.9;0.9	5.07	5.07	0.68467	.	0.065397	0.56097	D	0.000027	T	0.58221	0.2107	M	0.72479	2.2	0.80722	D	1	P;P;P	0.51933	0.86;0.896;0.949	B;P;P	0.58928	0.302;0.802;0.848	T	0.59695	-0.7406	10	0.59425	D	0.04	-30.7472	12.7124	0.57098	0.0768:0.0:0.9232:0.0	.	839;579;581	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	I	839;581;579	ENSP00000384197:R839I;ENSP00000439990:R581I;ENSP00000298919:R579I	ENSP00000298919:R579I	R	+	2	0	PDZRN4	40253364	1.000000	0.71417	0.148000	0.22405	0.356000	0.29392	4.616000	0.61197	2.741000	0.93983	0.650000	0.86243	AGA		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		14	171	0	0	0	1	0	14	171					T	41967097	G	T	41967097	3	4	285	1	0	0	0	0	1	0	0	0	11710	942	33	4	2627	4	PDZRN4	12	41967097	Missense_Mutation	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	30817438	41967097	91884798	17	5016											
EFS	10278	broad.mit.edu	37	14	23828540	23828540	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:23828540A>G	ENST00000216733.3	-	4	1754	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.Y290H|EFS_ENST00000429593.2_Missense_Mutation_p.Y214H	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	383					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGGTGGACATAGTCATACTCC	0.637																																						uc001wjo.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1147-1149)Tat>Cat		Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.							93	92	92					14																	23828540		2203	4300	6503	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828540A>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1147T>C	14.37:g.23828540A>G	ENSP00000216733:p.Tyr383His		Somatic				EFS_uc001wjp.3_Missense_Mutation_p.Y290H|EFS_uc010tnm.2_Missense_Mutation_p.Y214H	p.Y383H	NM_005864	NP_005855	WXS	Illumina GAIIx	Phase_I	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	3	1755	-	all_cancers(95;7.12e-06)		383					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1147T>C	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892330	0.72524	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.37058	1.22;1.22;1.22	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.292378	0.34067	N	0.004290	T	0.63094	0.2482	M	0.84683	2.71	0.45354	D	0.998347	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.69752	-0.5060	10	0.72032	D	0.01	-9.9709	13.2715	0.60164	1.0:0.0:0.0:0.0	.	214;290;383	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	H	383;290;214	ENSP00000216733:Y383H;ENSP00000340607:Y290H;ENSP00000416684:Y214H	ENSP00000216733:Y383H	Y	-	1	0	EFS	22898380	1.000000	0.71417	0.990000	0.47175	0.918000	0.54935	4.557000	0.60782	1.975000	0.57531	0.533000	0.62120	TAT		0.637	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			3	184	0	0	0	1	0	3	184					G	23828540	A	G	23828540	3	3	285	1	0	0	0	0	1	0	0	0	4959	420	15	3	550	3	EFS	14	23828540	Missense_Mutation	SNP	A	TCGA-EM-A3O7-01A-11D-A21Z-08		23828540	83521000	18	5017											
MOAP1	64112	broad.mit.edu	37	14	93650551	93650551	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:93650551T>C	ENST00000556883.1	-	2	521	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	13					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507																																						uc001ybj.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(37-39)Atg>Gtg		Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.							106	118	114					14																	93650551		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650551T>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.37A>G	14.37:g.93650551T>C	ENSP00000451594:p.Met13Val		Somatic				MOAP1_uc021saw.1_Missense_Mutation_p.M13V|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	p.M13V	NM_022151	NP_071434	WXS	Illumina GAIIx	Phase_I	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	407	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	13					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.37A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523326	0.27299	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.14516	2.5;2.5	3.46	2.26	0.28386	.	.	.	.	.	T	0.29256	0.0728	M	0.67397	2.05	0.22226	N	0.999271	D	0.60160	0.987	D	0.66602	0.945	T	0.04693	-1.0933	9	0.66056	D	0.02	-12.5177	6.7674	0.23575	0.0:0.0:0.2411:0.7589	.	13	Q96BY2	MOAP1_HUMAN	V	13	ENSP00000298894:M13V;ENSP00000451594:M13V	ENSP00000298894:M13V	M	-	1	0	MOAP1	92720304	0.956000	0.32656	0.579000	0.28588	0.034000	0.12701	2.478000	0.45189	0.685000	0.31468	0.529000	0.55759	ATG		0.507	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			3	149	0	0	0	1	0	3	149					C	93650551	T	C	93650551	3	2	285	1	0	0	0	0	1	0	0	0	9680	1435	50	3	1022	3	MOAP1	14	93650551	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08	69822011	93650551	13698989	19	5018											
RCOR1	23186	broad.mit.edu	37	14	103148316	103148316	+	Splice_Site	SNP	G	G	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:103148316G>T	ENST00000570597.1	+	3	436		c.e3+1		RCOR1_ENST00000262241.6_Splice_Site			Q9UKL0	RCOR1_HUMAN	REST corepressor 1						blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GAAGCAAAGTGTAAGTCTTGG	0.378																																						uc001ymb.3																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.e3+1		Homo sapiens REST corepressor 1 (RCOR1), mRNA.							105	94	98					14																	103148316		2203	4300	6503	SO:0001630	splice_region_variant	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding	g.chr14:103148316G>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.436+1G>T	14.37:g.103148316G>T			Somatic					p.L146_splice	NM_015156	NP_055971	WXS	Illumina GAIIx	Phase_I	Q9UKL0	RCOR1_HUMAN			3	673	+			146			ELM2.|Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Splice_Site	SNP	ENST00000570597.1	37	c.436_splice		.	.	.	.	.	.	.	.	.	.	G	18.89	3.718560	0.68844	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6278	0.88097	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RCOR1	102218069	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	6.373000	0.73128	2.451000	0.82905	0.655000	0.94253	.		0.378	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	Intron	3	54	0	0	0	1	0	3	54					T	103148316	G	T	103148316	5	4	285	1	0	0	0	0	0	0	1	0	13182	1391	48	4	447	4	RCOR1	14	103148316	Splice_Site	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	9497765	103148316	4201224	20	5019											
COG8	84342	broad.mit.edu	37	16	69366761	69366761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr16:69366761delG	ENST00000306875.4	-	4	1552	c.1438delC	c.(1438-1440)catfs	p.H480fs	COG8_ENST00000562081.1_Frame_Shift_Del_p.H480fs|PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	480					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCAGCGCGATGGAAGGCCAGG	0.502																																						uc002ewy.2																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1438-1440)catfs		Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.							78	76	76					16																	69366761		2198	4300	6498	SO:0001589	frameshift_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69366761delG	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1438delC	16.37:g.69366761delG	ENSP00000305459:p.His480fs		Somatic				PDF_uc002ewx.1_5'Flank	p.H480fs	NM_032382	NP_115758	WXS	Illumina GAIIx	Phase_I	Q96MW5	COG8_HUMAN			3	1509	-			480					Q0VAK2|Q8WVV6|Q9H6F8	Frame_Shift_Del	DEL	ENST00000306875.4	37	c.1438delC	CCDS10876.1																																																																																				0.502	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		25	40						25	40	---	---	---	---	-	69366761	G	-	69366761	7	5	285	1	0	1	0	1	0	0	0	0	3664	1348	47	0	408	0	COG8	16	69366761	Frame_Shift_Del	DEL	G	TCGA-EM-A3O7-01A-11D-A21Z-08		69366761	20987992	21	5020											
MYH1	4619	broad.mit.edu	37	17	10406153	10406153	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:10406153C>T	ENST00000226207.5	-	24	3107	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1005					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTGGGCCTCCTGGAGAGCC	0.498																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3013-3015)Gag>Aag		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							129	127	128					17																	10406153		2203	4297	6500	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:10406153C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3013G>A	17.37:g.10406153C>T	ENSP00000226207:p.Glu1005Lys		Somatic				AK097500_uc002gml.1_Intron	p.E1005K	NM_005963	NP_005954	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			23	3107	-			1005					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3013G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350168	0.95830	.	.	ENSG00000109061	ENST00000226207	D	0.91792	-2.91	5.24	5.24	0.73138	.	0.000000	0.43579	U	0.000542	D	0.97167	0.9074	H	0.95539	3.685	0.58432	D	0.999994	D	0.64830	0.994	P	0.62435	0.902	D	0.98145	1.0438	10	0.87932	D	0	.	19.1915	0.93669	0.0:1.0:0.0:0.0	.	1005	P12882	MYH1_HUMAN	K	1005	ENSP00000226207:E1005K	ENSP00000226207:E1005K	E	-	1	0	MYH1	10346878	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.724000	0.84798	2.620000	0.88729	0.557000	0.71058	GAG		0.498	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		11	127	0	0	0	1	0	11	127					T	10406153	C	T	10406153	3	4	285	1	0	0	0	0	1	0	0	0	10029	864	30	2	2874	2	MYH1	17	10406153	Missense_Mutation	SNP	C	TCGA-EM-A3O7-01A-11D-A21Z-08		10406153	70789057	22	5021											
COL1A1	1277	broad.mit.edu	37	17	48271724	48271724	+	Silent	SNP	G	G	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:48271724G>A	ENST00000225964.5	-	23	1718	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	534	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCACCAGGCAGACCAGCTTCA	0.647			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1600-1602)Ctg>Ttg		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						59	67	64					17																	48271724		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48271724G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1600C>T	17.37:g.48271724G>A			Somatic					p.L534L	NM_000088	NP_000079	WXS	Illumina GAIIx	Phase_I	P02452	CO1A1_HUMAN			22	1726	-			534			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1600C>T	CCDS11561.1																																																																																				0.647	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			41	38	0	0	0	1	0	41	38					A	48271724	G	A	48271724	2	1	285	1	0	0	0	0	0	0	0	1	3677	933	33	2		2	COL1A1	17	48271724	Silent	SNP	G	TCGA-EM-A3O7-01A-11D-A21Z-08	37865571	48271724	32923486	23	5022											
ZNF563	147837	broad.mit.edu	37	19	12430333	12430333	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr19:12430333T>C	ENST00000293725.5	-	4	711	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	ZNF563_ENST00000595977.1_Missense_Mutation_p.Y169C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	169					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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTACACTCATAGCGTTTCTT	0.433																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(505-507)tAt>tGt		Homo sapiens zinc finger protein 563 (ZNF563), mRNA.							249	221	231					19																	12430333		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430333T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"Zinc fingers, C2H2-type", "-"	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.506A>G	19.37:g.12430333T>C	ENSP00000293725:p.Tyr169Cys		Somatic				ZNF563_uc002mtq.2_Missense_Mutation_p.Y169C	p.Y169C	NM_145276	NP_660319	WXS	Illumina GAIIx	Phase_I	Q8TA94	ZN563_HUMAN			3	744	-			169					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.506A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407605	0.25378	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.69306	-0.39	0.814	-0.43	0.12299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76335	0.3973	M	0.80982	2.52	0.09310	N	1	B;D	0.69078	0.264;0.997	B;D	0.65010	0.126;0.931	T	0.63932	-0.6525	9	0.72032	D	0.01	.	5.2485	0.15510	0.6853:0.0:0.0:0.3146	.	169;169	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	C	169	ENSP00000293725:Y169C	ENSP00000293725:Y169C	Y	-	2	0	ZNF563	12291333	0.000000	0.05858	0.004000	0.12327	0.323000	0.28346	-2.276000	0.01161	-0.251000	0.09542	-0.991000	0.02546	TAT		0.433	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		43	82	0	0	0	1	0	43	82					C	12430333	T	C	12430333	3	2	285	1	0	0	0	0	1	0	0	0	17991	1406	49	3	928	3	ZNF563	19	12430333	Missense_Mutation	SNP	T	TCGA-EM-A3O7-01A-11D-A21Z-08		12430333	46698650	24	5023											
ZMYM1	79830	broad.mit.edu	37	1	35580761	35580761	+	Silent	SNP	C	C	A			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:35580761C>A	ENST00000373330.1	+	11	3504	c.3330C>A	c.(3328-3330)gcC>gcA	p.A1110A	ZMYM1_ENST00000359858.4_Silent_p.A1110A|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1110						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGGCCCAGCCCTAATGGCTG	0.383																																						uc001bym.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(3328-3330)gcC>gcA		Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.							69	63	65					1																	35580761		1834	4098	5932	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580761C>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3330C>A	1.37:g.35580761C>A			Somatic				ZMYM1_uc001byn.3_Silent_p.A1110A|ZMYM1_uc010ohu.2_Silent_p.A1091A|ZMYM1_uc001byo.3_Silent_p.A750A|ZMYM1_uc009vut.3_Silent_p.A1035A	p.A1110A	NM_024772	NP_079048	WXS	Illumina GAIIx	Phase_I	Q5SVZ6	ZMYM1_HUMAN			9	3476	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1110					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.3330C>A	CCDS41302.1																																																																																				0.383	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		3	74	0	0	0	1	0	3	74					A	35580761	C	A	35580761	2	1	286	1	0	0	0	0	0	0	0	1	17696	610	22	4		4	ZMYM1	1	35580761	Silent	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08		35580761	213669860	1	5024											
GFI1	2672	broad.mit.edu	37	1	92941764	92941764	+	Splice_Site	SNP	C	C	T			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:92941764C>T	ENST00000370332.1	-	7	1409	c.1091G>A	c.(1090-1092)gGt>gAt	p.G364D	GFI1_ENST00000427103.1_Splice_Site_p.G364D|GFI1_ENST00000294702.5_Splice_Site_p.G364D	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	364					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		AGGCTTCTCACCTGTGGGGAT	0.582																																						uc001dou.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.e7-1		Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.							45	41	43					1																	92941764		2203	4300	6503	SO:0001630	splice_region_variant	2672				negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941764C>T	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1091-1G>A	1.37:g.92941764C>T			Somatic				GFI1_uc001dov.4_Splice_Site_p.G364_splice|GFI1_uc001dow.4_Splice_Site_p.G364_splice	p.G364_splice	NM_001127215	NP_005254	WXS	Illumina GAIIx	Phase_I	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1255	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	364					Q8N564	Splice_Site	SNP	ENST00000370332.1	37	c.1091_splice	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226795	0.79576	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.26660	1.72;1.72;1.72	5.33	5.33	0.75918	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34378	-0.9831	10	0.87932	D	0	.	19.0241	0.92926	0.0:1.0:0.0:0.0	.	364	Q99684	GFI1_HUMAN	D	364	ENSP00000359357:G364D;ENSP00000399719:G364D;ENSP00000294702:G364D	ENSP00000294702:G364D	G	-	2	0	GFI1	92714352	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.773000	0.85462	2.485000	0.83878	0.655000	0.94253	GGT		0.582	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263	Missense_Mutation	4	21	0	0	0	1	0	4	21					T	92941764	C	T	92941764	5	4	286	1	0	0	0	0	0	0	1	0	6339	521	18	2	181	2	GFI1	1	92941764	Splice_Site	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08	57361003	92941764	156308857	2	5025											
MOV10	4343	broad.mit.edu	37	1	113234306	113234306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr1:113234306G>T	ENST00000413052.2	+	6	1246	c.856G>T	c.(856-858)Gag>Tag	p.E286*	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Nonsense_Mutation_p.E230*|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Nonsense_Mutation_p.E286*|MOV10_ENST00000357443.2_Nonsense_Mutation_p.E286*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	286					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTATGACCTGGAGTTAAGTAT	0.557																																						uc001eck.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(856-858)Gag>Tag		Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.							133	137	135					1																	113234306		2203	4300	6503	SO:0001587	stop_gained	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding	g.chr1:113234306G>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.856G>T	1.37:g.113234306G>T	ENSP00000399797:p.Glu286*		Somatic				MOV10_uc001ecl.2_Nonsense_Mutation_p.E286*|MOV10_uc001ecn.3_Nonsense_Mutation_p.E286*|MOV10_uc001ecm.3_Nonsense_Mutation_p.E226*|MOV10_uc009wgj.1_Nonsense_Mutation_p.E226*	p.E286*	NM_001130079	NP_066014	WXS	Illumina GAIIx	Phase_I	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	5	1126	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	286					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	ENST00000413052.2	37	c.856G>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	46	12.447184	0.99668	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.01	4.1	0.47936	.	0.296733	0.41001	D	0.000969	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-23.5734	9.4576	0.38764	0.096:0.0:0.904:0.0	.	.	.	.	X	286;286;286;230;286;224	.	ENSP00000285733:E286X	E	+	1	0	MOV10	113035829	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.898000	0.48672	1.495000	0.48549	0.561000	0.74099	GAG		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		66	79	0	0	0	1	0	66	79					T	113234306	G	T	113234306	4	4	286	1	0	0	0	0	0	1	0	0	9718	1175	41	4	874	4	MOV10	1	113234306	Nonsense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08	20292542	113234306	136016315	3	5026											
LRP2BP	55805	broad.mit.edu	37	4	186295505	186295505	+	Silent	SNP	T	T	C			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr4:186295505T>C	ENST00000328559.7	-	4	1252	c.441A>G	c.(439-441)aaA>aaG	p.K147K	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Silent_p.K147K|LRP2BP_ENST00000362004.3_Silent_p.K149K|LRP2BP_ENST00000510776.1_Silent_p.K121K	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	147						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)		GTTTAACACCTTTTCCTTCAT	0.383																																						uc003ixj.2																			0		p.G146E(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(439-441)aaA>aaG		Homo sapiens LRP2 binding protein (LRP2BP), mRNA.							173	165	168					4																	186295505		2203	4300	6503	SO:0001819	synonymous_variant	55805					cytoplasm	protein binding	g.chr4:186295505T>C	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.441A>G	4.37:g.186295505T>C			Somatic				LRP2BP_uc003ixk.2_Silent_p.K121K	p.K147K	NM_018409	NP_060879	WXS	Illumina GAIIx	Phase_I	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)	3	1253	-		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)	147					A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	ENST00000328559.7	37	c.441A>G	CCDS3840.1																																																																																				0.383	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		3	132	0	0	0	1	0	3	132					C	186295505	T	C	186295505	2	2	286	1	0	0	0	0	0	0	0	1	8957	1606	56	3		3	LRP2BP	4	186295505	Silent	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08		186295505	4858771	4	5027											
FOXP4	116113	broad.mit.edu	37	6	41557797	41557797	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr6:41557797G>A	ENST00000307972.4	+	10	1258	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	FOXP4_ENST00000409208.1_Missense_Mutation_p.A404T|FOXP4_ENST00000373063.3_Missense_Mutation_p.A403T|FOXP4_ENST00000373057.3_Missense_Mutation_p.A414T|FOXP4_ENST00000373060.1_Missense_Mutation_p.A416T			Q8IVH2	FOXP4_HUMAN	forkhead box P4	416					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	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)	p.A403T(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACCTCGGCCGCAGCCCCTGT	0.672																																						uc003oql.3																			2	Substitution - Missense(2)	p.A403T(2)	upper_aerodigestive_tract(1)|large_intestine(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1246-1248)Gca>Aca		Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.							32	35	34					6																	41557797		2202	4300	6502	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|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.chr6:41557797G>A	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1246G>A	6.37:g.41557797G>A	ENSP00000309823:p.Ala416Thr		Somatic				FOXP4_uc003oqm.3_Missense_Mutation_p.A414T|FOXP4_uc003oqn.3_Missense_Mutation_p.A403T	p.A416T	NM_001012426	NP_001012426	WXS	Illumina GAIIx	Phase_I	Q8IVH2	FOXP4_HUMAN			10	1704	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		416					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.1246G>A	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	G	2.788	-0.252010	0.05829	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	D;D;D;D;D	0.90197	-2.63;-2.6;-2.6;-2.63;-2.63	4.12	4.12	0.48240	.	0.135387	0.49916	D	0.000133	T	0.70945	0.3282	N	0.01576	-0.805	0.49798	D	0.999825	D;B;B	0.67145	0.996;0.011;0.008	P;B;B	0.53401	0.725;0.005;0.003	T	0.75720	-0.3219	10	0.32370	T	0.25	.	5.7433	0.18106	0.2678:0.0:0.7322:0.0	.	403;414;416	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	T	416;403;404;414;416	ENSP00000362151:A416T;ENSP00000362154:A403T;ENSP00000386958:A404T;ENSP00000362148:A414T;ENSP00000309823:A416T	ENSP00000309823:A416T	A	+	1	0	FOXP4	41665775	1.000000	0.71417	0.701000	0.30321	0.692000	0.40212	4.127000	0.57944	2.033000	0.60031	0.455000	0.32223	GCA		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		3	49	0	0	0	1	0	3	49					A	41557797	G	A	41557797	3	1	286	1	0	0	0	0	1	0	0	0	6029	1087	38	1	1284	1	FOXP4	6	41557797	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		41557797	129557270	5	5028											
LRRC1	55227	broad.mit.edu	37	6	53769225	53769225	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr6:53769225G>T	ENST00000370888.1	+	10	1232	c.955G>T	c.(955-957)Gca>Tca	p.A319S		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	319						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAACTTGAATGCAGACAGAAA	0.289																																						uc003pcd.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(955-957)Gca>Tca		Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.							93	89	90					6																	53769225		1821	4074	5895	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53769225G>T	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.955G>T	6.37:g.53769225G>T	ENSP00000359925:p.Ala319Ser		Somatic					p.A319S	NM_018214	NP_060684	WXS	Illumina GAIIx	Phase_I	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	9	1476	+	Lung NSC(77;0.0147)		319					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.955G>T	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278821	0.59758	.	.	ENSG00000137269	ENST00000370888	T	0.58210	0.35	5.5	5.5	0.81552	.	0.238434	0.43579	D	0.000554	T	0.35595	0.0937	L	0.55743	1.74	0.80722	D	1	B	0.31459	0.324	B	0.30943	0.122	T	0.45804	-0.9236	10	0.87932	D	0	.	11.8097	0.52175	0.0796:0.0:0.9204:0.0	.	319	Q9BTT6	LRRC1_HUMAN	S	319	ENSP00000359925:A319S	ENSP00000359925:A319S	A	+	1	0	LRRC1	53877184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.181000	0.71988	2.552000	0.86080	0.650000	0.86243	GCA		0.289	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		3	82	0	0	0	1	0	3	82					T	53769225	G	T	53769225	3	4	286	1	0	0	0	0	1	0	0	0	8966	1319	46	4	993	4	LRRC1	6	53769225	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08	12211428	53769225	117345842	6	5029											
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	rs397516897|rs121913364|rs121913226|rs121913377		TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr7:140453134T>C	ENST00000288602.6	-	15	1861	c.1801A>G	c.(1801-1803)Aaa>Gaa	p.K601E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CATCGAGATTTCACTGTAGCT	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	58	Substitution - Missense(40)|Complex - deletion inframe(17)|Deletion - In frame(1)	p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1)	thyroid(30)|skin(15)|large_intestine(5)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|lung(1)|NS(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1801-1803)Aaa>Gaa		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						111	103	106					7																	140453134		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453134T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1801A>G	7.37:g.140453134T>C	ENSP00000288602:p.Lys601Glu		Somatic					p.K601E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1862	-	Melanoma(164;0.00956)		601		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1801A>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.454487|4.454487	0.84209|0.84209	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.82711|.	-1.64|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.54464|.	0.1860|.	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P|.	0.42584|.	0.784|.	P|.	0.49922|.	0.626|.	T|.	0.51108|.	-0.8747|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	601|.	P15056|.	BRAF_HUMAN|.	E|W	601|208	ENSP00000288602:K601E|.	ENSP00000288602:K601E|.	K|X	-|-	1|3	0|0	BRAF|BRAF	140099603|140099603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	AAA|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	66	0	0	0	1	0	43	66					C	140453134	T	C	140453134	3	2	286	1	0	0	0	0	1	0	0	0	1496	1792	62	3	515	3	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08		140453134	18685529	7	5030											
IDO1	3620	broad.mit.edu	37	8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	rs200244502		TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GGAGATGTCCGTAAGGTTTGG	0.393																																						uc003xnm.3																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(298-300)cGt>cAt		Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	L-Tryptophan(DB00150)	G	HIS/ARG	0,3838		0,0,1919	117	110	112		299	1.4	0.0	8		112	1,8277		0,1,4138	yes	missense	IDO1	NM_002164.5	29	0,1,6057	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	100/404	39775722	1,12115	1919	4139	6058	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775722G>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.299G>A	8.37:g.39775722G>A	ENSP00000430950:p.Arg100His		Somatic					p.R100H	NM_002164	NP_002155	WXS	Illumina GAIIx	Phase_I	P14902	I23O1_HUMAN			2	413	+			100					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.299G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420693	0.42918	0.0	1.21E-4	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.45276	0.9;0.9;0.9	5.65	1.44	0.22558	.	0.907386	0.09317	N	0.818769	T	0.43255	0.1239	M	0.79475	2.455	0.09310	N	1	D	0.54047	0.964	P	0.45377	0.478	T	0.44360	-0.9333	9	.	.	.	-1.485	1.7288	0.02928	0.1757:0.2276:0.4465:0.1502	.	100	P14902	I23O1_HUMAN	H	100	ENSP00000428716:R100H;ENSP00000430505:R100H;ENSP00000430950:R100H	.	R	+	2	0	IDO1	39894879	0.000000	0.05858	0.003000	0.11579	0.237000	0.25408	0.234000	0.17930	0.751000	0.32900	0.585000	0.79938	CGT		0.393	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		4	111	0	0	0	1	0	4	111					A	39775722	G	A	39775722	3	1	286	1	0	0	0	0	1	0	0	0	7501	1145	40	1	309	1	IDO1	8	39775722	Missense_Mutation	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		39775722	106588300	8	5031											
ATAD2	29028	broad.mit.edu	37	8	124361593	124361593	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr8:124361593T>C	ENST00000287394.5	-	14	1845	c.1738A>G	c.(1738-1740)Ata>Gta	p.I580V	ATAD2_ENST00000521903.1_5'UTR|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	580					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGGATCTATAGAATCTAGC	0.408																																						uc003yqh.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1738-1740)Ata>Gta		Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.							143	130	134					8																	124361593		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124361593T>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1738A>G	8.37:g.124361593T>C	ENSP00000287394:p.Ile580Val		Somatic				ATAD2_uc011lii.2_Missense_Mutation_p.I371V|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.I580V|Mir_548_uc022ban.1_5'Flank	p.I580V	NM_014109	NP_054828	WXS	Illumina GAIIx	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1846	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		580					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1738A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830327	0.91036	.	.	ENSG00000156802	ENST00000287394	D	0.94184	-3.37	5.7	5.7	0.88788	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.095181	0.64402	D	0.000001	D	0.94679	0.8284	L	0.43757	1.38	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.93505	0.6848	10	0.28530	T	0.3	-23.2294	15.9666	0.79979	0.0:0.0:0.0:1.0	.	580	Q6PL18	ATAD2_HUMAN	V	580	ENSP00000287394:I580V	ENSP00000287394:I580V	I	-	1	0	ATAD2	124430774	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.174000	0.68829	0.482000	0.46254	ATA		0.408	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		4	156	0	0	0	1	0	4	156					C	124361593	T	C	124361593	3	2	286	1	0	0	0	0	1	0	0	0	1071	1406	49	3	2494	3	ATAD2	8	124361593	Missense_Mutation	SNP	T	TCGA-EM-A3O8-01A-11D-A21Z-08	84585871	124361593	22002429	9	5032											
ZNF169	169841	broad.mit.edu	37	9	97063304	97063304	+	Silent	SNP	C	C	T			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr9:97063304C>T	ENST00000395395.2	+	5	1554	c.1464C>T	c.(1462-1464)tgC>tgT	p.C488C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	488					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(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTTATCTGTGCCCCAAGTGTG	0.562																																						uc004aum.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1462-1464)tgC>tgT		Homo sapiens zinc finger protein 169 (ZNF169), mRNA.							86	73	77					9																	97063304		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063304C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1464C>T	9.37:g.97063304C>T			Somatic				ZNF169_uc022bki.1_Silent_p.C489C	p.C488C	NM_194320	NP_919301	WXS	Illumina GAIIx	Phase_I	Q14929	ZN169_HUMAN			4	1569	+		Acute lymphoblastic leukemia(62;0.136)	488					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1464C>T	CCDS6709.2																																																																																				0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		34	45	0	0	0	1	0	34	45					T	97063304	C	T	97063304	2	4	286	1	0	0	0	0	0	0	0	1	17739	747	26	2		2	ZNF169	9	97063304	Silent	SNP	C	TCGA-EM-A3O8-01A-11D-A21Z-08		97063304	44150127	10	5033											
GBF1	8729	broad.mit.edu	37	10	104139192	104139192	+	Splice_Site	SNP	G	G	A			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr10:104139192G>A	ENST00000369983.3	+	34	4902		c.e34+1			NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1						COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTACTGCAGGGTAAACCAGGA	0.582																																						uc001kux.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.e34+1		Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.							53	50	51					10																	104139192		2203	4300	6503	SO:0001630	splice_region_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104139192G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4642+1G>A	10.37:g.104139192G>A			Somatic				GBF1_uc001kuy.2_Splice_Site_p.G1544_splice|GBF1_uc001kuz.2_Splice_Site_p.G1545_splice	p.G1548_splice	NM_004193	NP_004184	WXS	Illumina GAIIx	Phase_I	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	34	4936	+		Colorectal(252;0.0236)	1548					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	ENST00000369983.3	37	c.4642_splice	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220155	0.79464	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5757	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBF1	104129182	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.456000	0.97628	2.614000	0.88457	0.561000	0.74099	.		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		Intron	3	55	0	0	0	1	0	3	55					A	104139192	G	A	104139192	5	1	286	1	0	0	0	0	0	0	1	0	6271	1275	44	2	4773	2	GBF1	10	104139192	Splice_Site	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		104139192	31395555	11	5034											
XRCC6	2547	broad.mit.edu	37	22	42052945	42052945	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chr22:42052945A>G	ENST00000359308.4	+	9	1985	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	XRCC6_ENST00000402580.3_Missense_Mutation_p.R403G|XRCC6_ENST00000405506.1_Missense_Mutation_p.R394G|XRCC6_ENST00000360079.3_Missense_Mutation_p.R444G|XRCC6_ENST00000405878.1_Missense_Mutation_p.R444G|XRCC6_ENST00000428575.2_Missense_Mutation_p.R311G			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	444	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGATGATAAAAGGAAGATGCC	0.418								Non-homologous end-joining																														uc003bao.1																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1330-1332)Agg>Ggg	Non-homologous end-joining	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.							81	77	79					22																	42052945		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42052945A>G	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1330A>G	22.37:g.42052945A>G	ENSP00000352257:p.Arg444Gly		Somatic				XRCC6_uc003bap.1_Missense_Mutation_p.R403G|XRCC6_uc011apc.1_Missense_Mutation_p.R394G|XRCC6_uc003bar.2_Missense_Mutation_p.R444G	p.R444G	NM_001469	NP_001460	WXS	Illumina GAIIx	Phase_I	P12956	XRCC6_HUMAN			9	1400	+			444			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1330A>G	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950063	0.73787	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.46	3.29	0.37713	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (2);Ku70/Ku80 C-terminal arm (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.989;0.997	D	0.88326	0.2965	9	0.87932	D	0	-11.2454	14.1857	0.65605	0.2822:0.7178:0.0:0.0	.	394;444;403;444	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	G	444;403;311;444;444;444;394	.	ENSP00000352257:R444G	R	+	1	2	XRCC6	40382891	0.962000	0.33011	1.000000	0.80357	0.941000	0.58515	2.246000	0.43142	1.286000	0.44565	-0.213000	0.12676	AGG		0.418	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		3	69	0	0	0	1	0	3	69					G	42052945	A	G	42052945	3	3	286	1	0	0	0	0	1	0	0	0	17454	63	3	3	1364	3	XRCC6	22	42052945	Missense_Mutation	SNP	A	TCGA-EM-A3O8-01A-11D-A21Z-08		42052945	9251621	12	5035											
MAGEE1	57692	broad.mit.edu	37	X	75648746	75648746	+	Silent	SNP	G	G	A			TCGA-EM-A3O8-01A-11D-A21Z-08	TCGA-EM-A3O8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	273fa499-61f1-44ac-b537-3f6d7fbba63a	dfb338fd-ead0-4819-9fb3-5e701e5cf53d	g.chrX:75648746G>A	ENST00000361470.2	+	1	701	c.423G>A	c.(421-423)ccG>ccA	p.P141P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	141	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCAGGCCGCCCACTTCCT	0.677																																						uc004ecm.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(421-423)ccG>ccA		Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.							28	30	29					X																	75648746		2203	4300	6503	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648746G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.423G>A	X.37:g.75648746G>A			Somatic					p.P141P	NM_020932	NP_065983	WXS	Illumina GAIIx	Phase_I	Q9HCI5	MAGE1_HUMAN			0	701	+			141			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.423G>A	CCDS14433.1																																																																																				0.677	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		3	50	0	0	0	1	0	3	50					A	75648746	G	A	75648746	2	1	286	1	0	0	0	0	0	0	0	1	9185	1074	38	1		1	MAGEE1	23	75648746	Silent	SNP	G	TCGA-EM-A3O8-01A-11D-A21Z-08		75648746	79621814	13	5036											
ECE1	1889	broad.mit.edu	37	1	21573852	21573852	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:21573852A>G	ENST00000374893.6	-	9	1099	c.1025T>C	c.(1024-1026)tTg>tCg	p.L342S	ECE1_ENST00000357071.4_Missense_Mutation_p.L330S|ECE1_ENST00000264205.6_Missense_Mutation_p.L339S|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000415912.2_Missense_Mutation_p.L326S|ECE1_ENST00000436918.2_Missense_Mutation_p.L342S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	342					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCGGGTGCCAAGGTCTGCAA	0.532																																						uc001bek.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1024-1026)tTg>tCg		Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.							131	123	126					1																	21573852		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21573852A>G	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1025T>C	1.37:g.21573852A>G	ENSP00000364028:p.Leu342Ser		Somatic				ECE1_uc001bem.2_Missense_Mutation_p.L326S|ECE1_uc001bej.2_Missense_Mutation_p.L330S|ECE1_uc001bei.2_Missense_Mutation_p.L339S|ECE1_uc010odl.1_Missense_Mutation_p.L342S|ECE1_uc009vqa.1_Missense_Mutation_p.L342S	p.L342S	NM_001397	NP_001388	WXS	Illumina GAIIx	Phase_I	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	8	1100	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	342					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1025T>C	CCDS215.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377796	0.82682	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.48	5.48	0.80851	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	M	0.62723	1.935	0.80722	D	1	P;D;P;D;D	0.89917	0.771;1.0;0.932;1.0;1.0	P;D;P;D;D	0.85130	0.574;0.997;0.777;0.992;0.995	D	0.90304	0.4332	10	0.66056	D	0.02	-16.7764	14.4117	0.67119	1.0:0.0:0.0:0.0	.	342;326;342;330;339	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	326;330;342;342;339	ENSP00000405088:L326S;ENSP00000349581:L330S;ENSP00000364028:L342S;ENSP00000388439:L342S;ENSP00000264205:L339S	ENSP00000264205:L339S	L	-	2	0	ECE1	21446439	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	8.890000	0.92477	2.071000	0.62044	0.454000	0.30748	TTG		0.532	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		3	96	0	0	0	1	0	3	96					G	21573852	A	G	21573852	3	3	287	1	0	0	0	0	1	0	0	0	4889	131	5	3	1331	3	ECE1	1	21573852	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08		21573852	227676769	1	5037											
OR10K1	391109	broad.mit.edu	37	1	158436162	158436162	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:158436162G>A	ENST00000289451.2	+	1	891	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCAAGCCAAGACACCCTAAT	0.418																																						uc010pij.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(811-813)Gac>Aac		Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.							180	164	170					1																	158436162		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436162G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.811G>A	1.37:g.158436162G>A	ENSP00000289451:p.Asp271Asn		Somatic					p.D271N	NM_001004473	NP_001004473	WXS	Illumina GAIIx	Phase_I	Q8NGX5	O10K1_HUMAN			0	811	+	all_hematologic(112;0.0378)		271					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.811G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	13.75	2.331053	0.41297	.	.	ENSG00000173285	ENST00000289451	T	0.00216	8.53	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.00210	0.0006	L	0.40543	1.245	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59311	-0.7478	10	0.56958	D	0.05	.	15.5475	0.76118	0.0:0.0:1.0:0.0	.	271	Q8NGX5	O10K1_HUMAN	N	271	ENSP00000289451:D271N	ENSP00000289451:D271N	D	+	1	0	OR10K1	156702786	0.930000	0.31532	0.135000	0.22099	0.575000	0.36095	2.434000	0.44802	2.160000	0.67779	0.557000	0.71058	GAC		0.418	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			4	137	0	0	0	1	0	4	137					A	158436162	G	A	158436162	3	1	287	1	0	0	0	0	1	0	0	0	10913	942	33	2	813	2	OR10K1	1	158436162	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08	136862310	158436162	90814459	2	5038											
SPR	6697	broad.mit.edu	37	2	73115548	73115548	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:73115548G>A	ENST00000234454.5	+	2	483	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPR_ENST00000498749.1_Splice_Site	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	137					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						CTGACTTCCAGCGTCCTGAAG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002sik.2																			0				lung(4)|ovary(2)	6						c.(409-411)aGc>aAc		Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.							171	148	156					2																	73115548		2203	4300	6503	SO:0001583	missense	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity	g.chr2:73115548G>A		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.410G>A	2.37:g.73115548G>A	ENSP00000234454:p.Ser137Asn		Somatic	OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142		p.S137N	NM_003124	NP_003115	WXS	Illumina GAIIx	Phase_I	P35270	SPRE_HUMAN			1	460	+			137					A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	ENST00000234454.5	37	c.410G>A	CCDS1920.1	.	.	.	.	.	.	.	.	.	.	G	4.989	0.183680	0.09495	.	.	ENSG00000116096	ENST00000234454	D	0.87571	-2.27	5.62	3.81	0.43845	NAD(P)-binding domain (1);	0.744085	0.13560	N	0.378839	T	0.81749	0.4888	L	0.47716	1.5	0.09310	N	1	B	0.24317	0.101	B	0.26693	0.072	T	0.66304	-0.5957	10	0.22109	T	0.4	-17.0835	8.7602	0.34669	0.0767:0.2875:0.6358:0.0	.	137	P35270	SPRE_HUMAN	N	137	ENSP00000234454:S137N	ENSP00000234454:S137N	S	+	2	0	SPR	72969056	0.003000	0.15002	0.006000	0.13384	0.053000	0.15095	1.466000	0.35310	0.726000	0.32339	0.561000	0.74099	AGC		0.562	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			25	102	0	0	0	1	0	25	102					A	73115548	G	A	73115548	3	1	287	1	0	0	0	0	1	0	0	0	15090	971	34	2	416	2	SPR	2	73115548	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		73115548	170083825	3	5039											
DNAH6	1768	broad.mit.edu	37	2	84811124	84811124	+	Splice_Site	SNP	T	T	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:84811124T>A	ENST00000237449.6	+	14	2239	c.2231T>A	c.(2230-2232)aTt>aAt	p.I744N	DNAH6_ENST00000398278.2_Splice_Site_p.I744N|DNAH6_ENST00000389394.3_Splice_Site_p.I744N			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	744	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(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCCATTTAGATTGAAAGCCTT	0.373																																						uc010fgb.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.e15-1		Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.							107	106	106					2																	84811124		2203	4300	6503	SO:0001630	splice_region_variant	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84811124T>A	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2230-1T>A	2.37:g.84811124T>A			Somatic				DNAH6_uc002soo.3_Splice_Site_p.I323_splice|DNAH6_uc002sop.3_Splice_Site_p.I323_splice	p.I744_splice	NM_001370	NP_001361	WXS	Illumina GAIIx	Phase_I	Q9C0G6	DYH6_HUMAN			15	2367	+			744			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Splice_Site	SNP	ENST00000237449.6	37	c.2230_splice	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345108	0.61073	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26518	1.73;1.84;1.73	5.73	5.73	0.89815	.	0.000000	0.44483	D	0.000456	T	0.46908	0.1417	M	0.63843	1.955	0.46654	D	0.999145	P;D	0.76494	0.459;0.999	B;D	0.65874	0.179;0.939	T	0.39542	-0.9609	10	0.49607	T	0.09	.	14.9947	0.71421	0.0:0.0:0.0:1.0	.	744;323	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	N	744	ENSP00000374045:I744N;ENSP00000381326:I744N;ENSP00000237449:I744N	ENSP00000237449:I744N	I	+	2	0	DNAH6	84664635	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	6.167000	0.71902	2.180000	0.69256	0.482000	0.46254	ATT		0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	Missense_Mutation	18	71	0	0	0	1	0	18	71					A	84811124	T	A	84811124	5	1	287	1	0	0	0	0	0	0	1	0	4605	1507	52	5	2285	5	DNAH6	2	84811124	Splice_Site	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	11695576	84811124	158388249	4	5040											
BAP1	51533	broad.mit.edu	37	3	52443600	52443600	+	5'Flank	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:52443600T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.E31G|BAP1_ENST00000296288.5_Missense_Mutation_p.E31G	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.E31A(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)		GTCGTAGATCTCCTCCACTTG	0.617																																						uc003ddx.3										"N, Mis, F, S, O"						"mesothelioma, uveal melanoma"	"uveal melanoma, breast, NSCLC, RCC"		1	Substitution - Missense(1)	p.E31A(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.(91-93)gAg>gGg		Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.							218	227	224					3																	52443600		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	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443600T>C	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443600T>C	Exception_encountered		Somatic				PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	p.E31G	NM_004656	NP_004647	WXS	Illumina GAIIx	Phase_I	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)	2	207	-			31					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.92A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	33	5.244578	0.95272	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61274	0.12;0.12	4.97	4.97	0.65823	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87513	0.2441	10	0.87932	D	0	-3.7767	14.6644	0.68896	0.0:0.0:0.0:1.0	.	31	Q92560	BAP1_HUMAN	G	31	ENSP00000417132:E31G;ENSP00000296288:E31G	ENSP00000296288:E31G	E	-	2	0	BAP1	52418640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	1.875000	0.54330	0.533000	0.62120	GAG		0.617	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		9	493	0	0	0	1	0	9	493					C	52443600	T	C	52443600	1	2	287	0	1	0	0	0	0	0	0	0	1311	1551	54	3		3	BAP1	3	52443600	5'Flank	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		52443600	145578830	5	5041											
CCDC52	152185	broad.mit.edu	37	3	113207801	113207801	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:113207801T>C	ENST00000295872.4	-	7	861	c.602A>G	c.(601-603)aAt>aGt	p.N201S		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	201					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCTGTCTGTATTCGTGTTAGA	0.358																																						uc003eag.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(601-603)aAt>aGt		Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.							134	123	127					3																	113207801		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113207801T>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"spindle and centriole protein"	613447	"coiled-coil domain containing 52"	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.602A>G	3.37:g.113207801T>C	ENSP00000295872:p.Asn201Ser		Somatic				SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.N97S	p.N201S	NM_144718	NP_653319	WXS	Illumina GAIIx	Phase_I	Q8N0Z3	SPICE_HUMAN			6	893	-			201					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.602A>G	CCDS2973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.185|1.185	-0.637050|-0.637050	0.03557|0.03557	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000467618|ENST00000295872	.|T	.|0.30182	.|1.54	4.74|4.74	0.722|0.722	0.18225|0.18225	.|.	.|0.490245	.|0.22298	.|N	.|0.061918	T|T	0.15782|0.15782	0.0380|0.0380	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19331	.|0.007;0.035	.|B;B	.|0.16289	.|0.011;0.015	T|T	0.16217|0.16217	-1.0410|-1.0410	5|10	.|0.20046	.|T	.|0.44	-7.4335|-7.4335	3.4848|3.4848	0.07615|0.07615	0.0:0.2782:0.2844:0.4374|0.0:0.2782:0.2844:0.4374	.|.	.|97;201	.|B3KX77;Q8N0Z3	.|.;SPICE_HUMAN	V|S	13|201	.|ENSP00000295872:N201S	.|ENSP00000295872:N201S	I|N	-|-	1|2	0|0	SPICE1|SPICE1	114690491|114690491	0.006000|0.006000	0.16342|0.16342	0.130000|0.130000	0.21974|0.21974	0.247000|0.247000	0.25773|0.25773	1.095000|1.095000	0.30964|0.30964	0.232000|0.232000	0.21100|0.21100	0.379000|0.379000	0.24179|0.24179	ATA|AAT		0.358	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		3	153	0	0	0	1	0	3	153					C	113207801	T	C	113207801	3	2	287	1	0	0	0	0	1	0	0	0	2822	1493	52	3	2013	3	CCDC52	3	113207801	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	60764201	113207801	84814629	6	5042											
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						uc011bzo.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(823-825)cTt>cCt		Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.							121	119	119					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro		Somatic				DCUN1D4_uc003gze.3_Missense_Mutation_p.L231P|DCUN1D4_uc003gzf.3_Intron|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L171P|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron	p.L275P	NM_001040402	NP_001035492	WXS	Illumina GAIIx	Phase_I	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		8	831	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.824T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	156	0	0	0	1	0	3	156					C	52777312	T	C	52777312	3	2	287	1	0	0	0	0	1	0	0	0	4316	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		52777312	138376964	7	5043											
PRDM9	56979	broad.mit.edu	37	5	23524563	23524563	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:23524563T>A	ENST00000296682.3	+	10	1253	c.1071T>A	c.(1069-1071)taT>taA	p.Y357*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	357	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTCTGGTATGGGGATGAAT	0.507										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1069-1071)taT>taA		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							118	117	117					5																	23524563		1938	4130	6068	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524563T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1071T>A	5.37:g.23524563T>A	ENSP00000296682:p.Tyr357*	HNSCC(3;0.000094)	Somatic					p.Y357*	NM_020227	NP_064612	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			9	1253	+			357			SET.		B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.1071T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278511	0.95459	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	4.23	-1.19	0.09585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4407	7.3303	0.26577	0.0:0.4227:0.0:0.5773	.	.	.	.	X	357;151	.	ENSP00000253473:Y151X	Y	+	3	2	PRDM9	23560320	0.031000	0.19500	0.993000	0.49108	0.543000	0.35085	-1.738000	0.01842	-0.130000	0.11599	-0.381000	0.06696	TAT		0.507	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		10	128	0	0	0	1	0	10	128					A	23524563	T	A	23524563	4	1	287	1	0	0	0	0	0	1	0	0	12463	1471	51	5	1105	5	PRDM9	5	23524563	Nonsense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		23524563	157390697	8	5044											
HEATR7B2	133558	broad.mit.edu	37	5	41065518	41065518	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:41065518C>A	ENST00000399564.4	-	4	726	c.276G>T	c.(274-276)atG>atT	p.M92I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	92																	GTACTTCATACATCACAGAGT	0.418																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(274-276)atG>atT		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							91	85	87					5																	41065518		1928	4143	6071	SO:0001583	missense	133558						binding	g.chr5:41065518C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.276G>T	5.37:g.41065518C>A	ENSP00000382476:p.Met92Ile		Somatic				HEATR7B2_uc021xxt.1_Missense_Mutation_p.M92I	p.M92I	NM_173489	NP_775760	WXS	Illumina GAIIx	Phase_I	Q7Z745	HTRB2_HUMAN			3	766	-			92					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.276G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561323	0.86335	.	.	ENSG00000171495	ENST00000399564	T	0.07567	3.18	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.29817	0.0745	M	0.73962	2.25	0.40635	D	0.981894	D	0.58268	0.982	D	0.68943	0.961	T	0.00248	-1.1880	10	0.87932	D	0	.	16.3599	0.83257	0.0:1.0:0.0:0.0	.	92	Q7Z745	HTRB2_HUMAN	I	92	ENSP00000382476:M92I	ENSP00000382476:M92I	M	-	3	0	HEATR7B2	41101275	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.770000	0.55310	2.937000	0.99478	0.650000	0.86243	ATG		0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	79	0	0	0	1	0	3	79					A	41065518	C	A	41065518	3	1	287	1	0	0	0	0	1	0	0	0	7035	478	17	4	4637	4	HEATR7B2	5	41065518	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	17540955	41065518	139849742	9	5045											
COL9A1	1297	broad.mit.edu	37	6	70964879	70964879	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:70964879C>T	ENST00000357250.6	-	23	1743	c.1585G>A	c.(1585-1587)Ggt>Agt	p.G529S	COL9A1_ENST00000320755.7_Missense_Mutation_p.G286S|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G286S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	529	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						CCAGGGAGACCAGGAATTCCT	0.423																																						uc003pfg.4																			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.(1585-1587)Ggt>Agt		Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.							154	157	156					6																	70964879		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964879C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1585G>A	6.37:g.70964879C>T	ENSP00000349790:p.Gly529Ser		Somatic				COL9A1_uc003pfe.4_Missense_Mutation_p.G102S|COL9A1_uc003pff.4_Missense_Mutation_p.G286S	p.G529S	NM_001851	NP_001842	WXS	Illumina GAIIx	Phase_I	P20849	CO9A1_HUMAN			22	1744	-			529			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1585G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403513	0.62288	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99607	-4.59;-6.27;-4.59	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96424	0.9314	10	0.87932	D	0	.	18.0869	0.89461	0.0:1.0:0.0:0.0	.	529;286;102	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	S	529;286;286	ENSP00000349790:G529S;ENSP00000315252:G286S;ENSP00000359530:G286S	ENSP00000315252:G286S	G	-	1	0	COL9A1	71021600	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	6.190000	0.72057	2.693000	0.91896	0.655000	0.94253	GGT		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			33	218	0	0	0	1	0	33	218					T	70964879	C	T	70964879	3	4	287	1	0	0	0	0	1	0	0	0	3707	594	21	2	1244	2	COL9A1	6	70964879	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		70964879	100150188	10	5046											
ZBTB24	9841	broad.mit.edu	37	6	109787521	109787521	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109787521G>C	ENST00000230122.3	-	7	1794	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	543					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GTAGAGAGTTGATATGGCTGT	0.448																																						uc003ptl.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1627-1629)Caa>Gaa		Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.							152	142	145					6																	109787521		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787521G>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1627C>G	6.37:g.109787521G>C	ENSP00000230122:p.Gln543Glu		Somatic				MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.Q487E|ZBTB24_uc010kdt.1_Non-coding_Transcript	p.Q543E	NM_014797	NP_055612	WXS	Illumina GAIIx	Phase_I	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	6	1795	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	543					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1627C>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794910	0.90453	.	.	ENSG00000112365	ENST00000230122	T	0.11604	2.76	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	L	0.29908	0.895	0.53688	D	0.999971	D	0.69078	0.997	D	0.75020	0.985	T	0.11372	-1.0590	10	0.10111	T	0.7	-26.4249	20.6208	0.99490	0.0:0.0:1.0:0.0	.	543	O43167	ZBT24_HUMAN	E	543	ENSP00000230122:Q543E	ENSP00000230122:Q543E	Q	-	1	0	ZBTB24	109894214	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	2.882000	0.98803	0.655000	0.94253	CAA		0.448	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		5	177	0	0	0	1	0	5	177					C	109787521	G	C	109787521	3	2	287	1	0	0	0	0	1	0	0	0	17528	1299	45	4	470	4	ZBTB24	6	109787521	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08	38822642	109787521	61327546	11	5047											
ZBTB24	9841	broad.mit.edu	37	6	109802299	109802299	+	Missense_Mutation	SNP	T	T	C	rs141429160		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109802299T>C	ENST00000230122.3	-	2	1098	c.931A>G	c.(931-933)Atc>Gtc	p.I311V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	311					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTCTGGTGGATTGCTAAAAAG	0.458																																						uc003ptl.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(931-933)Atc>Gtc		Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.		T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	125	124	124		931,931	1.7	1.0	6	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZBTB24	NM_001164313.1,NM_014797.2	29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	311/334,311/698	109802299	1,13005	2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802299T>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.931A>G	6.37:g.109802299T>C	ENSP00000230122:p.Ile311Val		Somatic				ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.I311V|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.3_Missense_Mutation_p.I311V	p.I311V	NM_014797	NP_055612	WXS	Illumina GAIIx	Phase_I	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	1	1099	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	311					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.931A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674498	0.47781	0.0	1.16E-4	ENSG00000112365	ENST00000230122	T	0.07327	3.2	5.37	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206052	0.49916	N	0.000131	T	0.04092	0.0114	N	0.11845	0.185	0.31520	N	0.662519	D;D	0.69078	0.997;0.958	D;D	0.79784	0.993;0.97	T	0.39901	-0.9591	10	0.20046	T	0.44	-18.5083	9.1708	0.37081	0.0:0.2076:0.0:0.7924	.	311;311	O43167-2;O43167	.;ZBT24_HUMAN	V	311	ENSP00000230122:I311V	ENSP00000230122:I311V	I	-	1	0	ZBTB24	109908992	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	3.544000	0.53640	0.141000	0.18875	-0.441000	0.05720	ATC		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	268	0	0	0	1	0	7	268					C	109802299	T	C	109802299	3	2	287	1	0	0	0	0	1	0	0	0	17528	1493	52	3	1236	3	ZBTB24	6	109802299	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	14778	109802299	61312768	12	5048											
RMND1	55005	broad.mit.edu	37	6	151726916	151726916	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:151726916T>G	ENST00000367303.4	-	11	1378	c.1256A>C	c.(1255-1257)cAc>cCc	p.H419P	RMND1_ENST00000336451.3_Missense_Mutation_p.H208P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	419					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCATTCAGGTGATTCCGCAT	0.373																																						uc003qoi.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1255-1257)cAc>cCc		Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.							129	109	116					6																	151726916		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151726916T>G	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.1256A>C	6.37:g.151726916T>G	ENSP00000356272:p.His419Pro		Somatic				RMND1_uc011eeq.1_Missense_Mutation_p.H208P	p.H419P	NM_017909	NP_060379	WXS	Illumina GAIIx	Phase_I	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	10	1436	-		Ovarian(120;0.125)	419					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.1256A>C	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251487	0.80135	.	.	ENSG00000155906	ENST00000336451;ENST00000367303;ENST00000367299	T;T	0.77098	-1.07;0.84	5.55	5.55	0.83447	.	0.097855	0.64402	D	0.000001	D	0.84624	0.5513	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.86784	0.1981	10	0.62326	D	0.03	-10.0954	13.9071	0.63843	0.0:0.0:0.0:1.0	.	419	Q9NWS8	RMND1_HUMAN	P	208;419;110	ENSP00000336683:H208P;ENSP00000356272:H419P	ENSP00000336683:H208P	H	-	2	0	RMND1	151768609	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.359000	0.79477	2.105000	0.64084	0.528000	0.53228	CAC		0.373	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		10	43	0	0	0	1	0	10	43					G	151726916	T	G	151726916	3	3	287	1	0	0	0	0	1	0	0	0	13396	1696	59	5	101	5	RMND1	6	151726916	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08	41924617	151726916	19388151	13	5049											
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						uc003uuw.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.							99	109	105					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His		Somatic				ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	p.Q271H	NM_019606	NP_062552	WXS	Illumina GAIIx	Phase_I	Q7L2J0	MEPCE_HUMAN			0	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			5	289	0	0	0	1	0	5	289					C	100028454	G	C	100028454	3	2	287	1	0	0	0	0	1	0	0	0	9477	962	34	4	815	4	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		100028454	59110209	14	5050											
SFMBT2	57713	broad.mit.edu	37	10	7412244	7412244	+	Splice_Site	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:7412244T>C	ENST00000361972.4	-	3	284	c.194A>G	c.(193-195)cAc>cGc	p.H65R	SFMBT2_ENST00000397160.3_Splice_Site_p.H65R|SFMBT2_ENST00000379711.2_Splice_Site_p.H65R|SFMBT2_ENST00000397167.1_Splice_Site_p.H65R|SFMBT2_ENST00000379713.3_Splice_Site_p.H65R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	65					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTACATACGTGTTTGAATGA	0.473																																						uc009xio.2																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.e3+1		Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.							118	108	111					10																	7412244		2203	4300	6503	SO:0001630	splice_region_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7412244T>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.195+1A>G	10.37:g.7412244T>C			Somatic				SFMBT2_uc001ijn.2_Splice_Site_p.H65_splice|SFMBT2_uc010qay.2_Splice_Site_p.H65_splice|SFMBT2_uc001ijo.2_Splice_Site_p.H65_splice	p.H65_splice	NM_001018039	NP_001018049	WXS	Illumina GAIIx	Phase_I	Q5VUG0	SMBT2_HUMAN			3	286	-			65					A7MD09|Q9HCF5	Splice_Site	SNP	ENST00000361972.4	37	c.195_splice	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392812	0.62066	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.42131	0.98;0.98;0.98;1.39;1.39	5.24	5.24	0.73138	.	0.096586	0.64402	D	0.000001	T	0.66848	0.2831	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.989	T	0.72411	-0.4302	10	0.87932	D	0	.	15.4442	0.75216	0.0:0.0:0.0:1.0	.	65;65	Q5T981;Q5VUG0	.;SMBT2_HUMAN	R	65	ENSP00000355109:H65R;ENSP00000380353:H65R;ENSP00000369035:H65R;ENSP00000369033:H65R;ENSP00000380346:H65R	ENSP00000355109:H65R	H	-	2	0	SFMBT2	7452250	1.000000	0.71417	0.984000	0.44739	0.299000	0.27559	7.266000	0.78452	2.102000	0.63906	0.533000	0.62120	CAC		0.473	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	Missense_Mutation	3	108	0	0	0	1	0	3	108					C	7412244	T	C	7412244	5	2	287	1	0	0	0	0	0	0	1	0	14158	1710	59	3	2566	3	SFMBT2	10	7412244	Splice_Site	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		7412244	128122503	15	5051											
OR51M1	390059	broad.mit.edu	37	11	5410737	5410737	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:5410737C>T	ENST00000328611.3	+	1	131	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	37					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(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCAAACACTGGATTTT	0.423																																						uc010qzc.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(109-111)Cac>Tac		Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.							184	171	175					11																	5410737		1904	4118	6022	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410737C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.109C>T	11.37:g.5410737C>T	ENSP00000333196:p.His37Tyr		Somatic				HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.H37Y	NM_001004756	NP_001004756	WXS	Illumina GAIIx	Phase_I	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	131	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	37					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.109C>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	2.478	-0.320315	0.05386	.	.	ENSG00000184698	ENST00000328611	T	0.02944	4.1	4.74	3.8	0.43715	.	0.000000	0.35970	U	0.002870	T	0.01870	0.0059	N	0.25144	0.715	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.49153	-0.8969	10	0.02654	T	1	.	9.0783	0.36536	0.0:0.8964:0.0:0.1036	.	26	Q9H341	O51M1_HUMAN	Y	37	ENSP00000333196:H37Y	ENSP00000333196:H37Y	H	+	1	0	OR51M1	5367313	0.000000	0.05858	0.701000	0.30321	0.897000	0.52465	-0.673000	0.05239	2.442000	0.82660	0.557000	0.71058	CAC		0.423	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		10	144	0	0	0	1	0	10	144					T	5410737	C	T	5410737	3	4	287	1	0	0	0	0	1	0	0	0	11103	478	17	2	111	2	OR51M1	11	5410737	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		5410737	129595779	16	5052											
GRIA4	2893	broad.mit.edu	37	11	105795388	105795388	+	Silent	SNP	C	C	T	rs542853979	byFrequency	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:105795388C>T	ENST00000530497.1	+	11	1740	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	GRIA4_ENST00000282499.5_Silent_p.D580D|GRIA4_ENST00000393127.2_Silent_p.D580D|GRIA4_ENST00000525187.1_Silent_p.D580D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	580					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGCCAGAGGACGGAAAGGAAG	0.473													c|||	2	0.000399361	0	0	5008	,	,		17185	0		0.001	False		,,,				2504	0.001					uc001pix.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1738-1740)gaC>gaT		Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						142	118	126					11																	105795388		2202	4299	6501	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795388C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1740C>T	11.37:g.105795388C>T			Somatic				GRIA4_uc001piw.2_Silent_p.D580D	p.D580D	NM_000829	NP_000820	WXS	Illumina GAIIx	Phase_I	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	2186	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	580					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1740C>T	CCDS8333.1																																																																																				0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			9	53	0	0	0	1	0	9	53					T	105795388	C	T	105795388	2	4	287	1	0	0	0	0	0	0	0	1	6770	535	19	1		1	GRIA4	11	105795388	Silent	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	100384651	105795388	29211128	17	5053											
HSP90B1	7184	broad.mit.edu	37	12	104336889	104336889	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr12:104336889A>G	ENST00000299767.5	+	13	1864	c.1682A>G	c.(1681-1683)aAg>aGg	p.K561R		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	561					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAAAAAGGGCTATGAA	0.418																																						uc001tkb.1																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1681-1683)aAg>aGg		Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	Rifabutin(DB00615)						112	121	118					12																	104336889		2203	4300	6503	SO:0001583	missense	7184				ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding	g.chr12:104336889A>G	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1682A>G	12.37:g.104336889A>G	ENSP00000299767:p.Lys561Arg		Somatic				HSP90B1_uc010swg.1_Missense_Mutation_p.K226R|HSP90B1_uc009zui.1_Intron	p.K561R	NM_003299	NP_003290	WXS	Illumina GAIIx	Phase_I	P14625	ENPL_HUMAN			12	1787	+			561					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1682A>G	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.397139	0.62177	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.11169	2.8	5.85	5.85	0.93711	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.35723	1.085	0.80722	D	1	B	0.26081	0.141	B	0.25614	0.062	T	0.07578	-1.0765	10	0.06625	T	0.88	.	16.5427	0.84406	1.0:0.0:0.0:0.0	.	561	P14625	ENPL_HUMAN	R	561;311	ENSP00000299767:K561R	ENSP00000299767:K561R	K	+	2	0	HSP90B1	102861019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.567000	0.82357	2.363000	0.80096	0.523000	0.50628	AAG		0.418	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		4	223	0	0	0	1	0	4	223					G	104336889	A	G	104336889	3	3	287	1	0	0	0	0	1	0	0	0	7403	72	3	3	1732	3	HSP90B1	12	104336889	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08		104336889	29515006	18	5054											
BTBD7	55727	broad.mit.edu	37	14	93717850	93717850	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr14:93717850T>C	ENST00000334746.5	-	8	2208	c.1901A>G	c.(1900-1902)aAc>aGc	p.N634S	BTBD7_ENST00000554565.1_Missense_Mutation_p.N283S|BTBD7_ENST00000393170.2_Missense_Mutation_p.N208S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	634					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)		GCTTGACTGGTTGCTGCTGAT	0.418																																						uc001ybo.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1900-1902)aAc>aGc		Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.							219	179	192					14																	93717850		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93717850T>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1901A>G	14.37:g.93717850T>C	ENSP00000335615:p.Asn634Ser		Somatic				BTBD7_uc010aur.3_Missense_Mutation_p.N159S|BTBD7_uc010two.2_Missense_Mutation_p.N454S|BTBD7_uc001ybp.3_Missense_Mutation_p.N283S	p.N634S	NM_001002860	NP_001002860	WXS	Illumina GAIIx	Phase_I	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	7	2227	-		all_cancers(154;0.08)	634					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1901A>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656170	0.47467	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.43688	1.28;0.94	5.6	2.0	0.26442	.	0.251004	0.52532	N	0.000071	T	0.16769	0.0403	N	0.02802	-0.49	0.34290	D	0.683127	B;B;B	0.14438	0.002;0.01;0.001	B;B;B	0.14578	0.004;0.011;0.002	T	0.16188	-1.0411	10	0.19590	T	0.45	.	8.8744	0.35337	0.0:0.3665:0.0:0.6335	.	208;283;634	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	S	634;283;249;208	ENSP00000335615:N634S;ENSP00000451010:N283S	ENSP00000335615:N634S	N	-	2	0	BTBD7	92787603	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.674000	0.25218	0.105000	0.17753	0.482000	0.46254	AAC		0.418	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		40	239	0	0	0	1	0	40	239					C	93717850	T	C	93717850	3	2	287	1	0	0	0	0	1	0	0	0	1546	1725	60	3	1513	3	BTBD7	14	93717850	Missense_Mutation	SNP	T	TCGA-EM-A3O9-01A-11D-A21Z-08		93717850	13631690	19	5055											
SRRM2	23524	broad.mit.edu	37	16	2807800	2807800	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:2807800G>T	ENST00000301740.8	+	4	918	c.369G>T	c.(367-369)caG>caT	p.Q123H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	123					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)			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						AGACTCACCAgttggcagaat	0.443																																						uc002crk.3																			0				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.(367-369)caG>caT		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							98	106	103					16																	2807800		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	g.chr16:2807800G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.369G>T	16.37:g.2807800G>T	ENSP00000301740:p.Gln123His		Somatic				SRRM2_uc002crj.1_Missense_Mutation_p.Q27H|SRRM2_uc002crl.1_Missense_Mutation_p.Q123H|SRRM2_uc010bsu.1_Missense_Mutation_p.Q27H	p.Q123H	NM_016333	NP_057417	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			3	918	+			123					A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.369G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283638	0.40394	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.25749	1.78	4.96	4.96	0.65561	.	0.000000	0.49305	D	0.000152	T	0.41627	0.1167	L	0.50333	1.59	0.36345	D	0.859719	D	0.65815	0.995	D	0.74674	0.984	T	0.51140	-0.8743	10	0.87932	D	0	-9.0437	9.3547	0.38159	0.0983:0.0:0.9017:0.0	.	123	Q9UQ35	SRRM2_HUMAN	H	123;123;27;88	ENSP00000301740:Q123H	ENSP00000301740:Q123H	Q	+	3	2	SRRM2	2747801	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.863000	0.56016	2.284000	0.76573	0.462000	0.41574	CAG		0.443	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			42	97	0	0	0	1	0	42	97					T	2807800	G	T	2807800	3	4	287	1	0	0	0	0	1	0	0	0	15168	1020	36	4	379	4	SRRM2	16	2807800	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		2807800	87546953	20	5056											
ZNF267	10308	broad.mit.edu	37	16	31925925	31925925	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:31925925A>G	ENST00000300870.10	+	4	564	c.355A>G	c.(355-357)Agg>Ggg	p.R119G	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	119					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGGTGGAAAAGGGAGGAGTG	0.378																																						uc002ecs.4																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(355-357)Agg>Ggg		Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.							116	115	115					16																	31925925		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925925A>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.355A>G	16.37:g.31925925A>G	ENSP00000300870:p.Arg119Gly		Somatic					p.R119G	NM_003414	NP_003405	WXS	Illumina GAIIx	Phase_I	Q14586	ZN267_HUMAN			3	564	+			119					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.355A>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	4.844	0.156881	0.09236	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06068	3.35	0.593	0.593	0.17478	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.48043	-0.9069	9	0.18710	T	0.47	.	5.3909	0.16244	0.9999:0.0:1.0E-4:0.0	.	119	Q14586	ZN267_HUMAN	G	119;86	ENSP00000300870:R119G	ENSP00000300870:R119G	R	+	1	2	ZNF267	31833426	0.988000	0.35896	0.008000	0.14137	0.242000	0.25591	0.728000	0.26013	0.466000	0.27193	0.254000	0.18369	AGG		0.378	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		3	142	0	0	0	1	0	3	142					G	31925925	A	G	31925925	3	3	287	1	0	0	0	0	1	0	0	0	17803	63	3	3	369	3	ZNF267	16	31925925	Missense_Mutation	SNP	A	TCGA-EM-A3O9-01A-11D-A21Z-08	29118125	31925925	58428828	21	5057											
CDK12	51755	broad.mit.edu	37	17	37682293	37682293	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr17:37682293G>A	ENST00000447079.4	+	13	3517	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	CDK12_ENST00000430627.2_Missense_Mutation_p.E1162K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1162					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGCCCTGACGGAAGCTACTTC	0.567			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.3				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3484-3486)Gaa>Aaa		Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.							77	68	71					17																	37682293		2203	4300	6503	SO:0001583	missense	51755				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	g.chr17:37682293G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3484G>A	17.37:g.37682293G>A	ENSP00000398880:p.Glu1162Lys	TCGA Ovarian(9;0.13)	Somatic				CDK12_uc010wef.1_Missense_Mutation_p.E1161K|CDK12_uc002hrw.4_Missense_Mutation_p.E1162K	p.E1162K	NM_016507	NP_057591	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			12	4070	+			1162					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3484G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739316	0.69304	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69926	-0.44;-0.43	5.28	5.28	0.74379	.	0.153579	0.31167	N	0.008127	T	0.57770	0.2076	L	0.43152	1.355	0.38191	D	0.939902	B;B;P	0.36990	0.441;0.441;0.577	B;B;B	0.31686	0.037;0.063;0.134	T	0.59490	-0.7445	10	0.21540	T	0.41	-6.846	18.8847	0.92372	0.0:0.0:1.0:0.0	.	1161;1162;1162	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	1162	ENSP00000407720:E1162K;ENSP00000398880:E1162K	ENSP00000407720:E1162K	E	+	1	0	CDK12	34935819	1.000000	0.71417	0.925000	0.36789	0.988000	0.76386	8.656000	0.91102	2.636000	0.89361	0.650000	0.86243	GAA		0.567	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	38	0	0	0	1	0	12	38					A	37682293	G	A	37682293	3	1	287	1	0	0	0	0	1	0	0	0	3128	1175	41	2	3534	2	CDK12	17	37682293	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		37682293	43512917	22	5058											
OR10H2	26538	broad.mit.edu	37	19	15839268	15839268	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:15839268C>T	ENST00000305899.3	+	1	435	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAGCCCACGGGGCTGCGC	0.637																																						uc002nbm.2																			1	Substitution - Missense(1)	p.R139W(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(415-417)Cgg>Tgg		Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.							90	73	79					19																	15839268		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839268C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.415C>T	19.37:g.15839268C>T	ENSP00000306095:p.Arg139Trp		Somatic					p.R139W	NM_013939	NP_039227	WXS	Illumina GAIIx	Phase_I	O60403	O10H2_HUMAN			0	435	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		139					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.415C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	13.86	2.363639	0.41902	.	.	ENSG00000171942	ENST00000305899	T	0.42900	0.96	3.4	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.152141	0.30969	N	0.008513	T	0.43389	0.1245	L	0.54908	1.71	0.09310	N	1	D	0.63046	0.992	P	0.56088	0.791	T	0.32851	-0.9891	10	0.59425	D	0.04	.	2.1438	0.03782	0.1997:0.487:0.195:0.1183	.	139	O60403	O10H2_HUMAN	W	139	ENSP00000306095:R139W	ENSP00000306095:R139W	R	+	1	2	OR10H2	15700268	0.000000	0.05858	0.010000	0.14722	0.691000	0.40173	-0.896000	0.04114	0.009000	0.14813	-0.336000	0.08194	CGG		0.637	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			4	89	0	0	0	1	0	4	89					T	15839268	C	T	15839268	3	4	287	1	0	0	0	0	1	0	0	0	10906	527	19	1	417	1	OR10H2	19	15839268	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		15839268	43289715	23	5059											
MYBPC2	4606	broad.mit.edu	37	19	50940753	50940753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:50940753C>T	ENST00000357701.5	+	6	538	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	163					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)		TGCCTCTGGGCAGAGTCTAGA	0.587																																						uc002psf.2																			0				breast(1)	1						c.(487-489)Cag>Tag		Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.							63	58	60					19																	50940753		1915	4120	6035	SO:0001587	stop_gained	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50940753C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.487C>T	19.37:g.50940753C>T	ENSP00000350332:p.Gln163*		Somatic					p.Q163*	NM_004533	NP_004524	WXS	Illumina GAIIx	Phase_I	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	5	538	+		all_neural(266;0.057)	163					A1L4G9	Nonsense_Mutation	SNP	ENST00000357701.5	37	c.487C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.309916	0.81247	.	.	ENSG00000086967	ENST00000357701	.	.	.	3.53	-0.696	0.11287	.	0.236106	0.19280	U	0.118193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	5.8845	0.18874	0.2084:0.3825:0.4091:0.0	.	.	.	.	X	163	.	ENSP00000350332:Q163X	Q	+	1	0	MYBPC2	55632565	0.000000	0.05858	0.001000	0.08648	0.863000	0.49368	0.160000	0.16462	0.203000	0.20529	0.401000	0.26515	CAG		0.587	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	11	0	0	0	1	0	5	11					T	50940753	C	T	50940753	4	4	287	1	0	0	0	0	0	1	0	0	10012	711	25	2	509	2	MYBPC2	19	50940753	Nonsense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08	35101485	50940753	8188230	24	5060											
RALGAPA2	57186	broad.mit.edu	37	20	20621386	20621386	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr20:20621386G>T	ENST00000202677.7	-	6	516	c.509C>A	c.(508-510)aCa>aAa	p.T170K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	170					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTCTCCAGTGTGCAAGGGCC	0.468																																						uc002wrz.3																			0		p.T170T(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(508-510)aCa>aAa		Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.							100	100	100					20																	20621386		1929	4137	6066	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	g.chr20:20621386G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.509C>A	20.37:g.20621386G>T	ENSP00000202677:p.Thr170Lys		Somatic				RALGAPA2_uc010zsg.2_5'UTR	p.T170K	NM_020343	NP_065076	WXS	Illumina GAIIx	Phase_I	Q2PPJ7	RGPA2_HUMAN			5	652	-			170					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.509C>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.852875|4.852875	0.91355|0.91355	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	.|T;T;T	.|0.77877	.|-1.13;-1.13;-1.13	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.85691|0.85691	0.5755|0.5755	M|M	0.80982|0.80982	2.52|2.52	0.53688|0.53688	D|D	0.999979|0.999979	.|D	.|0.54772	.|0.968	.|P	.|0.53360	.|0.724	D|D	0.85133|0.85133	0.0976|0.0976	5|10	.|0.39692	.|T	.|0.17	.|.	19.6603|19.6603	0.95864|0.95864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|170	.|Q2PPJ7	.|RGPA2_HUMAN	Q|K	21|170;22;22;170	.|ENSP00000202677:T170K;ENSP00000400901:T22K;ENSP00000412795:T170K	.|ENSP00000202677:T170K	H|T	-|-	3|2	2|0	RALGAPA2|RALGAPA2	20569386|20569386	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.623000|0.623000	0.37688|0.37688	9.249000|9.249000	0.95470|0.95470	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	116	0	0	0	1	0	3	116					T	20621386	G	T	20621386	3	4	287	1	0	0	0	0	1	0	0	0	13014	1377	48	4	5248	4	RALGAPA2	20	20621386	Missense_Mutation	SNP	G	TCGA-EM-A3O9-01A-11D-A21Z-08		20621386	42404134	25	5061											
MAGEB18	286514	broad.mit.edu	37	X	26157885	26157885	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrX:26157885C>A	ENST00000325250.1	+	2	970	c.783C>A	c.(781-783)aaC>aaA	p.N261K		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	261	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTGCCCAACAGTGATCCTC	0.488																																						uc004dbq.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(781-783)aaC>aaA		Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.							87	73	78					X																	26157885		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157885C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.783C>A	X.37:g.26157885C>A	ENSP00000314543:p.Asn261Lys		Somatic				MAGEB18_uc022bub.1_Missense_Mutation_p.N261K	p.N261K	NM_173699	NP_775970	WXS	Illumina GAIIx	Phase_I	Q96M61	MAGBI_HUMAN			1	970	+			261			MAGE.			Missense_Mutation	SNP	ENST00000325250.1	37	c.783C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936625	0.18206	.	.	ENSG00000176774	ENST00000325250	T	0.04551	3.6	4.56	0.614	0.17603	.	0.202866	0.50627	D	0.000106	T	0.16385	0.0394	M	0.86028	2.79	0.09310	N	1	D	0.60575	0.988	D	0.62955	0.909	T	0.03025	-1.1081	10	0.66056	D	0.02	.	6.6478	0.22945	0.0:0.5349:0.0:0.4651	.	261	Q96M61	MAGBI_HUMAN	K	261	ENSP00000314543:N261K	ENSP00000314543:N261K	N	+	3	2	MAGEB18	26067806	0.178000	0.23122	0.021000	0.16686	0.064000	0.16182	-0.064000	0.11636	-0.020000	0.14032	-0.380000	0.06706	AAC		0.488	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		3	44	0	0	0	1	0	3	44					A	26157885	C	A	26157885	3	1	287	1	0	0	0	0	1	0	0	0	9175	477	17	4	785	4	MAGEB18	23	26157885	Missense_Mutation	SNP	C	TCGA-EM-A3O9-01A-11D-A21Z-08		26157885	129112675	26	5062											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		99	116	0	0	0	1	0	99	116					T	115256530	G	T	115256530	3	4	288	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		115256530	133994091	1	5063											
S100A7	6278	broad.mit.edu	37	1	153430375	153430375	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr1:153430375A>C	ENST00000368723.3	-	3	323	c.213T>G	c.(211-213)gaT>gaG	p.D71E	S100A7_ENST00000368722.1_Missense_Mutation_p.D71E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	71	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCAGAAAAATCAATCTTCT	0.473																																						uc001fbv.1																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(211-213)gaT>gaG		Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.							106	95	99					1																	153430375		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	g.chr1:153430375A>C	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"S100 calcium binding proteins", "EF-hand domain containing"	10497	protein-coding gene	gene with protein product		600353	"S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)"	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.213T>G	1.37:g.153430375A>C	ENSP00000357712:p.Asp71Glu		Somatic					p.D71E	NM_002963	NP_002954	WXS	Illumina GAIIx	Phase_I	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	284	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		71			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.213T>G	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	4.721	0.134140	0.09032	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.09817	2.94;2.94	2.03	-4.07	0.03975	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.01627	0.0052	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44375	-0.9332	9	0.27082	T	0.32	.	7.6646	0.28423	0.1667:0.2217:0.6116:0.0	.	71	P31151	S10A7_HUMAN	E	71	ENSP00000357712:D71E;ENSP00000357711:D71E	ENSP00000357711:D71E	D	-	3	2	S100A7	151696999	0.000000	0.05858	0.047000	0.18901	0.267000	0.26476	-3.394000	0.00486	-1.549000	0.01710	0.163000	0.16589	GAT		0.473	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		4	118	0	0	0	1	0	4	118					C	153430375	A	C	153430375	3	2	288	1	0	0	0	0	1	0	0	0	13783	98	4	5	96	5	S100A7	1	153430375	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	38173845	153430375	95820246	2	5064											
C2orf39	92749	broad.mit.edu	37	2	26654829	26654829	+	Silent	SNP	C	C	T	rs371207623		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr2:26654829C>T	ENST00000288710.2	+	7	917	c.843C>T	c.(841-843)tgC>tgT	p.C281C	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	281					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TCTGGGATTGCGAAGAATACA	0.512																																						uc002rhg.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						c.(841-843)tgC>tgT		Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.		C		0,4406		0,0,2203	132	115	121		843	-11.3	0.0	2		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC164	NM_145038.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		281/741	26654829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26654829C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.843C>T	2.37:g.26654829C>T			Somatic				CCDC164_uc010eym.1_Non-coding_Transcript	p.C281C	NM_145038	NP_659475	WXS	Illumina GAIIx	Phase_I	Q96MC2	CC164_HUMAN			6	917	+			281					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.843C>T	CCDS1723.1																																																																																				0.512	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		6	51	0	0	0	1	0	6	51					T	26654829	C	T	26654829	2	4	288	1	0	0	0	0	0	0	0	1	2164	776	27	1		1	C2orf39	2	26654829	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		26654829	216544544	3	5065											
DNAH1	25981	broad.mit.edu	37	3	52391973	52391973	+	Missense_Mutation	SNP	C	C	T	rs534895761		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:52391973C>T	ENST00000420323.2	+	24	4301	c.4040C>T	c.(4039-4041)aCg>aTg	p.T1347M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1347	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)		AAGGACCCCACGGCCGTGCAG	0.622																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4039-4041)aCg>aTg		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							33	38	36					3																	52391973		1988	4155	6143	SO:0001583	missense	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.chr3:52391973C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4040C>T	3.37:g.52391973C>T	ENSP00000401514:p.Thr1347Met		Somatic					p.T1347M	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	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)	23	4301	+			1347			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.4040C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623261	0.28889	.	.	ENSG00000114841	ENST00000420323	T	0.62105	0.05	4.98	3.2	0.36748	.	0.122511	0.36628	N	0.002499	T	0.74989	0.3789	M	0.82630	2.6	0.42239	D	0.991928	D	0.62365	0.991	P	0.61070	0.883	T	0.74705	-0.3575	10	0.45353	T	0.12	.	10.1136	0.42576	0.1366:0.792:0.0:0.0714	.	1347	C9JXH6	.	M	1347	ENSP00000401514:T1347M	ENSP00000401514:T1347M	T	+	2	0	DNAH1	52367013	0.293000	0.24371	0.945000	0.38365	0.021000	0.10359	0.949000	0.29109	0.540000	0.28808	-1.331000	0.01271	ACG		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		3	54	0	0	0	1	0	3	54					T	52391973	C	T	52391973	3	4	288	1	0	0	0	0	1	0	0	0	4597	536	19	1	4130	1	DNAH1	3	52391973	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		52391973	145630457	4	5066											
PDZRN3	23024	broad.mit.edu	37	3	73453315	73453315	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr3:73453315A>G	ENST00000263666.4	-	4	1264	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	PDZRN3_ENST00000466780.1_Missense_Mutation_p.Y41H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.Y106H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Y101H|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Y41H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	384					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAAGAGATAGGGATCCAGC	0.458																																						uc003dpl.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1150-1152)Tat>Cat		Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.							118	105	109					3																	73453315		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73453315A>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1150T>C	3.37:g.73453315A>G	ENSP00000263666:p.Tyr384His		Somatic				PDZRN3_uc011bgh.1_Missense_Mutation_p.Y41H|PDZRN3_uc010hoe.1_Missense_Mutation_p.Y82H|PDZRN3_uc011bgf.1_Missense_Mutation_p.Y101H|PDZRN3_uc011bgg.1_Missense_Mutation_p.Y104H	p.Y384H	NM_015009	NP_055824	WXS	Illumina GAIIx	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	3	1246	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	384					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1150T>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843157	0.51057	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.11169	2.8;3.5;3.38;3.38;3.49;3.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.72894	2.215	0.53688	D	0.999979	B;D;D;D	0.89917	0.165;1.0;0.988;0.999	B;D;P;D	0.83275	0.121;0.996;0.862;0.996	T	0.01725	-1.1287	10	0.27082	T	0.32	.	16.2903	0.82747	1.0:0.0:0.0:0.0	.	106;101;101;384	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	384;106;41;41;101;384;82	ENSP00000263666:Y384H;ENSP00000442026:Y106H;ENSP00000418168:Y41H;ENSP00000418484:Y41H;ENSP00000418624:Y101H;ENSP00000419250:Y82H	ENSP00000263666:Y384H	Y	-	1	0	PDZRN3	73536005	1.000000	0.71417	0.973000	0.42090	0.699000	0.40488	5.199000	0.65152	2.326000	0.78906	0.533000	0.62120	TAT		0.458	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		3	96	0	0	0	1	0	3	96					G	73453315	A	G	73453315	3	3	288	1	0	0	0	0	1	0	0	0	11709	420	15	3	2078	3	PDZRN3	3	73453315	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	21061342	73453315	124569115	5	5067											
ANK2	287	broad.mit.edu	37	4	114264269	114264269	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr4:114264269A>G	ENST00000357077.4	+	34	4272	c.4219A>G	c.(4219-4221)Aaa>Gaa	p.K1407E	ANK2_ENST00000509550.1_Missense_Mutation_p.K583E|ANK2_ENST00000506722.1_Missense_Mutation_p.K1398E|ANK2_ENST00000264366.6_Missense_Mutation_p.K1374E|ANK2_ENST00000394537.3_Missense_Mutation_p.K1407E|ANK2_ENST00000510275.2_Missense_Mutation_p.K59E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1407	UPA domain.				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)		TTTTGCCTTCAAAGAAAATAG	0.338																																						uc003ibe.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.(4219-4221)Aaa>Gaa		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							136	133	134					4																	114264269		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114264269A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4219A>G	4.37:g.114264269A>G	ENSP00000349588:p.Lys1407Glu		Somatic				ANK2_uc003ibd.4_Missense_Mutation_p.K1398E|ANK2_uc003ibf.4_Missense_Mutation_p.K1407E|ANK2_uc011cgc.2_Missense_Mutation_p.K583E|ANK2_uc003ibg.4_Missense_Mutation_p.K402E|ANK2_uc003ibh.4_Missense_Mutation_p.K81E|ANK2_uc011cgb.1_Missense_Mutation_p.K1422E	p.K1407E	NM_001148	NP_001139	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	33	4319	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1374					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4219A>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.2|28.2	4.898025|4.898025	0.91962|0.91962	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275|ENST00000514960	T;T;T;T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.71533|0.71533	0.3351|0.3351	M|M	0.63428|0.63428	1.95|1.95	0.49389|0.49389	D|D	0.999782|0.999782	D;D;P;D;D;D;D|.	0.89917|.	0.997;0.998;0.725;0.999;0.993;1.0;0.997|.	D;D;P;D;D;D;D|.	0.91635|.	0.914;0.993;0.544;0.993;0.987;0.999;0.978|.	T|T	0.70781|0.70781	-0.4779|-0.4779	10|5	0.87932|.	D|.	0|.	.|.	15.6089|15.6089	0.76699|0.76699	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	583;1374;453;419;1407;1407;1398|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	E|R	1320;1398;453;1422;1407;1407;1374;1398;583;59|419	ENSP00000421011:K1320E;ENSP00000421067:K1398E;ENSP00000424722:K1422E;ENSP00000378044:K1407E;ENSP00000349588:K1407E;ENSP00000264366:K1374E;ENSP00000426944:K583E;ENSP00000421023:K59E|.	ENSP00000264366:K1374E|.	K|Q	+|+	1|2	0|0	ANK2|ANK2	114483718|114483718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.306000|7.306000	0.78905|0.78905	2.082000|2.082000	0.62665|0.62665	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	46	0	0	0	1	0	30	46					G	114264269	A	G	114264269	3	3	288	1	0	0	0	0	1	0	0	0	621	131	5	3	4418	3	ANK2	4	114264269	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		114264269	76890007	6	5068											
LRRTM2	26045	broad.mit.edu	37	5	138209408	138209408	+	Missense_Mutation	SNP	A	A	G	rs371505658		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr5:138209408A>G	ENST00000274711.6	-	2	1220	c.842T>C	c.(841-843)aTa>aCa	p.I281T	LRRTM2_ENST00000523537.1_5'Flank|LRRTM2_ENST00000521094.2_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000518825.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	281					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGAGGAGTATTTTAAGATT	0.438																																						uc011cyz.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16						c.(841-843)aTa>aCa		Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.		A	,THR/ILE	0,3840		0,0,1920	205	203	204		,842	5.3	1.0	5		204	1,8269		0,1,4134	no	intron,missense	CTNNA1,LRRTM2	NM_001903.2,NM_015564.2	,89	0,1,6054	GG,GA,AA		0.0121,0.0,0.0083	,benign	,281/517	138209408	1,12109	1920	4135	6055	SO:0001583	missense	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209408A>G	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.842T>C	5.37:g.138209408A>G	ENSP00000274711:p.Ile281Thr		Somatic				CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.I147T|CTNNA1_uc003ldl.3_5'Flank	p.I281T	NM_015564	NP_056379	WXS	Illumina GAIIx	Phase_I	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		1	1299	-			281					A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	c.842T>C	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.435902	0.01108	0.0	1.21E-4	ENSG00000146006	ENST00000274711	T	0.56103	0.48	5.3	5.3	0.74995	.	0.182257	0.46145	D	0.000308	T	0.20170	0.0485	N	0.01209	-0.955	0.39136	D	0.961949	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22977	-1.0201	10	0.11485	T	0.65	.	7.815	0.29254	0.8473:0.0:0.1527:0.0	.	147;281	B7Z4G4;O43300	.;LRRT2_HUMAN	T	281	ENSP00000274711:I281T	ENSP00000274711:I281T	I	-	2	0	LRRTM2	138237307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.426000	0.59882	2.227000	0.72691	0.528000	0.53228	ATA		0.438	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2			8	271	0	0	0	1	0	8	271					G	138209408	A	G	138209408	3	3	288	1	0	0	0	0	1	0	0	0	9040	449	16	3	712	3	LRRTM2	5	138209408	Missense_Mutation	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		138209408	42705852	7	5069											
VNN2	8875	broad.mit.edu	37	6	133073823	133073823	+	Silent	SNP	G	G	A	rs141716354		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:133073823G>A	ENST00000326499.6	-	4	727	c.603C>T	c.(601-603)acC>acT	p.T201T	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.T148T|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	201	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTCCAAATGCGGTGTTGAAAG	0.428																																						uc003qdt.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(601-603)acC>acT		Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.		A	,,	1,4405	2.1+/-5.4	0,1,2202	139	130	133		,603,444	-0.9	0.6	6	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	,201/521,148/468	133073823	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073823G>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.603C>T	6.37:g.133073823G>A			Somatic				VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Silent_p.T148T	p.T201T	NM_004665	NP_004656	WXS	Illumina GAIIx	Phase_I	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	3	614	-			201			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.603C>T	CCDS5161.1																																																																																				0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			27	209	0	0	0	1	0	27	209					A	133073823	G	A	133073823	2	1	288	1	0	0	0	0	0	0	0	1	17180	1103	39	1		1	VNN2	6	133073823	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		133073823	38041244	8	5070											
PLEKHG1	57480	broad.mit.edu	37	6	151161206	151161206	+	Missense_Mutation	SNP	C	C	T	rs139978019		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr6:151161206C>T	ENST00000358517.2	+	16	3543	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.T1111M			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1111							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGATATCCCACGTTTGAGATC	0.483													C|||	1	0.000199681	0	0	5008	,	,		21802	0.001		0	False		,,,				2504	0					uc011eem.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(3508-3510)aCg>aTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.							80	81	80					6																	151161206		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161206C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3332C>T	6.37:g.151161206C>T	ENSP00000351318:p.Thr1111Met		Somatic				PLEKHG1_uc003qny.1_Missense_Mutation_p.T1111M	p.T1170M	NM_001029884	NP_001025055	WXS	Illumina GAIIx	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	15	3597	+			1111					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3509C>T	CCDS34552.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.774	0.327242	0.10900	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.59772	0.24;0.24	5.81	3.97	0.46021	.	0.732725	0.13537	N	0.380536	T	0.26085	0.0636	L	0.51422	1.61	0.09310	N	1	B;P	0.44309	0.005;0.832	B;B	0.36504	0.002;0.226	T	0.05616	-1.0874	10	0.33141	T	0.24	.	5.1128	0.14819	0.2546:0.5467:0.0:0.1987	.	918;1111	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	M	1111	ENSP00000356297:T1111M;ENSP00000351318:T1111M	ENSP00000351318:T1111M	T	+	2	0	PLEKHG1	151202899	0.000000	0.05858	0.407000	0.26434	0.596000	0.36781	0.788000	0.26872	1.462000	0.47948	0.655000	0.94253	ACG		0.483	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			35	47	0	0	0	1	0	35	47					T	151161206	C	T	151161206	3	4	288	1	0	0	0	0	1	0	0	0	12068	536	19	1	3390	1	PLEKHG1	6	151161206	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	18087383	151161206	19953861	9	5071											
ADCYAP1R1	117	broad.mit.edu	37	7	31126076	31126076	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:31126076T>C	ENST00000304166.4	+	10	1037	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y229H|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y250H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y250H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	250					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CGAGGGCCTGTACCTCTTCAC	0.532																																					Ovarian(44;225 1186 2158 11092)	uc003tcg.3																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(748-750)Tac>Cac		Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 1, mRNA.							228	173	192					7																	31126076		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126076T>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.748T>C	7.37:g.31126076T>C	ENSP00000306620:p.Tyr250His		Somatic				ADCYAP1R1_uc003tce.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tca.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.Y229H|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.Y250H|ADCYAP1R1_uc003tcf.1_5'Flank	p.Y250H	NM_001199635	NP_001186564	WXS	Illumina GAIIx	Phase_I	P41586	PACR_HUMAN			9	1037	+			250					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.748T>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423216	0.83559	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.50548	1.19;1.22;0.74;0.74	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.83774	2.66	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;0.999;0.998;0.999;0.999	T	0.75733	-0.3214	10	0.87932	D	0	.	13.8941	0.63761	0.0:0.0:0.0:1.0	.	250;250;250;229;250	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	H	250;21;229;250;250	ENSP00000306620:Y250H;ENSP00000387335:Y229H;ENSP00000379514:Y250H;ENSP00000386395:Y250H	ENSP00000306620:Y250H	Y	+	1	0	ADCYAP1R1	31092601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.162000	0.67917	0.533000	0.62120	TAC		0.532	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		3	44	0	0	0	1	0	3	44					C	31126076	T	C	31126076	3	2	288	1	0	0	0	0	1	0	0	0	303	1638	57	3	782	3	ADCYAP1R1	7	31126076	Missense_Mutation	SNP	T	TCGA-EM-A3OA-01A-11D-A21Z-08		31126076	128012587	10	5072											
RELN	5649	broad.mit.edu	37	7	103197509	103197509	+	Silent	SNP	C	C	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr7:103197509C>A	ENST00000428762.1	-	38	5871	c.5712G>T	c.(5710-5712)acG>acT	p.T1904T	RELN_ENST00000424685.2_Silent_p.T1904T|RELN_ENST00000343529.5_Silent_p.T1904T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1904					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAGTATATTCGTTGTTTGAG	0.403																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				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.(5710-5712)acG>acT		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							208	199	202					7																	103197509		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:103197509C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5712G>T	7.37:g.103197509C>A			Somatic				RELN_uc022ajq.1_Silent_p.T1904T|RELN_uc010liz.3_Silent_p.T1904T	p.T1904T	NM_005045	NP_005036	WXS	Illumina GAIIx	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	37	5872	-			1904					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5712G>T	CCDS47680.1																																																																																				0.403	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	181	0	0	0	1	0	4	181					A	103197509	C	A	103197509	2	1	288	1	0	0	0	0	0	0	0	1	13220	871	31	4		4	RELN	7	103197509	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	72071433	103197509	55941154	11	5073											
RB1CC1	9821	broad.mit.edu	37	8	53580652	53580652	+	Silent	SNP	G	G	T			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:53580652G>T	ENST00000025008.5	-	8	1625	c.1102C>A	c.(1102-1104)Cgg>Agg	p.R368R	RB1CC1_ENST00000539297.1_Silent_p.R368R|RB1CC1_ENST00000435644.2_Silent_p.R368R|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	368					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.R368R(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCGTAGAGCCGATCTTCAAGT	0.423																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.4																			1	Substitution - coding silent(1)	p.R368R(2)	endometrium(1)	NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1102-1104)Cgg>Agg		Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.							138	120	126					8																	53580652		2203	4300	6503	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	g.chr8:53580652G>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1102C>A	8.37:g.53580652G>T			Somatic				RB1CC1_uc003xrf.4_Silent_p.R368R	p.R368R	NM_014781	NP_055596	WXS	Illumina GAIIx	Phase_I	Q8TDY2	RBCC1_HUMAN			7	1660	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	368					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.1102C>A	CCDS34892.1																																																																																				0.423	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		3	76	0	0	0	1	0	3	76					T	53580652	G	T	53580652	2	4	288	1	0	0	0	0	0	0	0	1	13099	1057	37	4		4	RB1CC1	8	53580652	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		53580652	92783370	12	5074											
COLEC10	10584	broad.mit.edu	37	8	120114630	120114630	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr8:120114630A>G	ENST00000332843.2	+	4	377	c.336A>G	c.(334-336)aaA>aaG	p.K112K	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	112	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.K112K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTGGAGAAAAAGGCAAAGCAG	0.294																																						uc003yoo.3																			1	Substitution - coding silent(1)	p.K112K(2)	kidney(1)	endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(334-336)aaA>aaG		Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.							109	114	112					8																	120114630		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120114630A>G	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.336A>G	8.37:g.120114630A>G			Somatic					p.K112K	NM_006438	NP_006429	WXS	Illumina GAIIx	Phase_I	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		3	433	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		112			Collagen-like.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.336A>G	CCDS6327.1																																																																																				0.294	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			3	88	0	0	0	1	0	3	88					G	120114630	A	G	120114630	2	3	288	1	0	0	0	0	0	0	0	1	3710	69	3	3		3	COLEC10	8	120114630	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08	66533978	120114630	26249392	13	5075											
HSPA5	3309	broad.mit.edu	37	9	128001313	128001313	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:128001313A>G	ENST00000324460.6	-	5	1106	c.903T>C	c.(901-903)tcT>tcC	p.S301S	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	301					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CTTGATGCTGAGAAGACAGGG	0.458										Prostate(1;0.17)																												uc004bpn.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(901-903)tcT>tcC		Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	Antihemophilic Factor(DB00025)						69	69	69					9																	128001313		2203	4300	6503	SO:0001819	synonymous_variant	3309				ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001313A>G		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.903T>C	9.37:g.128001313A>G		Prostate(1;0.17)	Somatic					p.S301S	NM_005347	NP_005338	WXS	Illumina GAIIx	Phase_I	P11021	GRP78_HUMAN			4	1164	-			301					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.903T>C	CCDS6863.1																																																																																				0.458	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			34	28	0	0	0	1	0	34	28					G	128001313	A	G	128001313	2	3	288	1	0	0	0	0	0	0	0	1	7414	291	11	3		3	HSPA5	9	128001313	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		128001313	13212118	14	5076											
COL5A1	1289	broad.mit.edu	37	9	137630645	137630645	+	Silent	SNP	T	T	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr9:137630645T>A	ENST00000371817.3	+	11	1899	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	495	Interrupted collagenous 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)		TCGGGGACCCTGGAGAAAGGG	0.577																																						uc004cfe.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.(1483-1485)ccT>ccA		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							75	77	76					9																	137630645		2203	4300	6503	SO:0001819	synonymous_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.chr9:137630645T>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1485T>A	9.37:g.137630645T>A			Somatic					p.P495P	NM_000093	NP_000084	WXS	Illumina GAIIx	Phase_I	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)	10	1867	+		Myeloproliferative disorder(178;0.0341)	495			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1485T>A	CCDS6982.1																																																																																				0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	139	0	0	0	1	0	4	139					A	137630645	T	A	137630645	2	1	288	1	0	0	0	0	0	0	0	1	3696	1567	55	5		5	COL5A1	9	137630645	Silent	SNP	T	TCGA-EM-A3OA-01A-11D-A21Z-08	9629332	137630645	3582786	15	5077											
JMJD1C	221037	broad.mit.edu	37	10	64973724	64973724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr10:64973724G>A	ENST00000399262.2	-	8	2421	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q553*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q516*|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	735					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAAGGATGCTGGCTTAGGAAA	0.418																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2203-2205)Cag>Tag		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							122	108	113					10																	64973724		1920	4151	6071	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973724G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2203C>T	10.37:g.64973724G>A	ENSP00000382204:p.Gln735*		Somatic				JMJD1C_uc001jml.3_Nonsense_Mutation_p.Q516*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.Q447*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.Q553*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.Q553*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Nonsense_Mutation_p.Q447*	p.Q735*	NM_032776	NP_116165	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			7	2503	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		735					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.2203C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	46	12.339076	0.99658	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	6.17	5.26	0.73747	.	0.392398	0.28933	N	0.013671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.7796	15.9972	0.80260	0.065:0.0:0.935:0.0	.	.	.	.	X	735;516;516;553	.	ENSP00000382195:Q516X	Q	-	1	0	JMJD1C	64643730	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.975000	0.70475	2.941000	0.99782	0.655000	0.94253	CAG		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		18	93	0	0	0	1	0	18	93					A	64973724	G	A	64973724	4	1	288	1	0	0	0	0	0	1	0	0	7950	1357	47	2	5495	2	JMJD1C	10	64973724	Nonsense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		64973724	70561023	16	5078											
OR4X1	390113	broad.mit.edu	37	11	48286142	48286142	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr11:48286142G>A	ENST00000320048.1	+	1	730	c.730G>A	c.(730-732)Gtt>Att	p.V244I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	244						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCATGTCACAGTTGTCGACCT	0.517																																						uc010rht.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(730-732)Gtt>Att		Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.							162	147	152					11																	48286142		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286142G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.730G>A	11.37:g.48286142G>A	ENSP00000321506:p.Val244Ile		Somatic					p.V244I	NM_001004726	NP_001004726	WXS	Illumina GAIIx	Phase_I	Q8NH49	OR4X1_HUMAN			0	730	+			244					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.730G>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691719	0.30052	.	.	ENSG00000176567	ENST00000320048	T	0.00253	8.43	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00666	0.0022	M	0.85542	2.76	0.09310	N	0.999995	D	0.76494	0.999	D	0.87578	0.998	T	0.48175	-0.9058	9	0.72032	D	0.01	.	14.3574	0.66748	0.0:0.0:1.0:0.0	.	244	Q8NH49	OR4X1_HUMAN	I	244	ENSP00000321506:V244I	ENSP00000321506:V244I	V	+	1	0	OR4X1	48242718	0.661000	0.27430	0.106000	0.21319	0.022000	0.10575	2.949000	0.49074	2.308000	0.77769	0.563000	0.77884	GTT		0.517	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		12	150	0	0	0	1	0	12	150					A	48286142	G	A	48286142	3	1	288	1	0	0	0	0	1	0	0	0	11084	1029	36	2	732	2	OR4X1	11	48286142	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		48286142	86720374	17	5079											
TUBA3C	7278	broad.mit.edu	37	13	19751149	19751149	+	Missense_Mutation	SNP	G	G	A	rs572405672		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr13:19751149G>A	ENST00000400113.3	-	4	1078	c.974C>T	c.(973-975)cCg>cTg	p.P325L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	325					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACATCTTTCGGGACCACATC	0.542													G|||	1	0.000199681	0	0.0014	5008	,	,		18321	0		0	False		,,,				2504	0					uc009zzj.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(973-975)cCg>cTg		Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.							159	131	141					13																	19751149		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751149G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.974C>T	13.37:g.19751149G>A	ENSP00000382982:p.Pro325Leu		Somatic					p.P325L	NM_006001	NP_525125	WXS	Illumina GAIIx	Phase_I	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	1079	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	325					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.974C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	11.41	1.631060	0.28978	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84370	-1.84	1.21	0.295	0.15752	.	0.000000	0.47852	U	0.000215	D	0.85173	0.5636	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	T	0.81389	-0.0955	7	0.87932	D	0	.	5.6914	0.17831	0.2073:0.0:0.7927:0.0	.	.	.	.	L	325	ENSP00000382982:P325L	ENSP00000354037:P325L	P	-	2	0	TUBA3C	18649149	1.000000	0.71417	0.967000	0.41034	0.666000	0.39218	4.955000	0.63638	0.076000	0.16826	0.184000	0.17185	CCG		0.542	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		4	164	0	0	0	1	0	4	164					A	19751149	G	A	19751149	3	1	288	1	0	0	0	0	1	0	0	0	16743	1116	39	1	386	1	TUBA3C	13	19751149	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		19751149	95418729	18	5080											
MPV17L	255027	broad.mit.edu	37	16	15490060	15490060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:15490060delT	ENST00000396385.3	+	1	425	c.306delT	c.(304-306)tatfs	p.Y102fs	RP11-1021N1.1_ENST00000568222.1_Frame_Shift_Del_p.M85fs|MPV17L_ENST00000287594.7_Frame_Shift_Del_p.Y102fs	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	102					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						CGGCCTTCTATGTCGGTGAGG	0.721																																						uc002ddn.2																			0				kidney(2)|large_intestine(1)|skin(1)	4						c.(304-306)tatfs		Homo sapiens MPV17 mitochondrial membrane protein-like (MPV17L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							6	6	6					16																	15490060		2054	3962	6016	SO:0001589	frameshift_variant	255027					integral to membrane|peroxisomal membrane		g.chr16:15490060delT	DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.306delT	16.37:g.15490060delT	ENSP00000379669:p.Tyr102fs		Somatic				MPV17L_uc002ddm.2_Frame_Shift_Del_p.Y102fs	p.Y102fs	NM_001128423	NP_001121895	WXS	Illumina GAIIx	Phase_I	Q2QL34	MP17L_HUMAN			0	450	+			102					B4DDY1|Q6P7T6|Q8N8E9	Frame_Shift_Del	DEL	ENST00000396385.3	37	c.306delT	CCDS45421.1																																																																																				0.721	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		2	4						2	4	---	---	---	---	-	15490060	T	-	15490060	7	5	288	1	0	1	0	1	0	0	0	0	9746	1471	51	0	308	0	MPV17L	16	15490060	Frame_Shift_Del	DEL	T	TCGA-EM-A3OA-01A-11D-A21Z-08		15490060	74864693	19	5081											
ZNF785	146540	broad.mit.edu	37	16	30594124	30594124	+	Silent	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr16:30594124G>A	ENST00000395216.2	-	3	1134	c.975C>T	c.(973-975)tcC>tcT	p.S325S	ZNF785_ENST00000470110.1_Silent_p.S310S|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	325					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)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGAGGAGGAGGGAAGAATAGG	0.642																																						uc002dyw.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(973-975)tcC>tcT		Homo sapiens zinc finger protein 785 (ZNF785), mRNA.							54	61	58					16																	30594124		2197	4300	6497	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594124G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.975C>T	16.37:g.30594124G>A			Somatic				ZNF785_uc002dyu.3_Non-coding_Transcript|ZNF785_uc002dyv.2_Silent_p.S310S|ZNF785_uc010vez.2_Silent_p.S290S	p.S325S	NM_152458	NP_689671	WXS	Illumina GAIIx	Phase_I	A8K8V0	ZN785_HUMAN			2	1135	-			325					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.975C>T	CCDS10685.1																																																																																				0.642	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		8	76	0	0	0	1	0	8	76					A	30594124	G	A	30594124	2	1	288	1	0	0	0	0	0	0	0	1	18154	1219	43	2		2	ZNF785	16	30594124	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	15104064	30594124	59760629	20	5082											
MFSD6L	162387	broad.mit.edu	37	17	8701591	8701591	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:8701591C>G	ENST00000329805.4	-	1	1076	c.848G>C	c.(847-849)cGa>cCa	p.R283P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	283						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCTTCTGTATCGGTCAGTGGC	0.592																																						uc002glp.2																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(847-849)cGa>cCa		Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.							62	60	61					17																	8701591		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8701591C>G	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.848G>C	17.37:g.8701591C>G	ENSP00000330051:p.Arg283Pro		Somatic					p.R283P	NM_152599	NP_689812	WXS	Illumina GAIIx	Phase_I	Q8IWD5	MFS6L_HUMAN			0	1077	-			283					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.848G>C	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281563	0.40394	.	.	ENSG00000185156	ENST00000329805	D	0.87491	-2.26	4.93	2.96	0.34315	.	0.162291	0.37715	N	0.001974	D	0.90366	0.6985	M	0.69823	2.125	0.33536	D	0.594239	D	0.71674	0.998	D	0.68943	0.961	D	0.89694	0.3900	10	0.30854	T	0.27	-13.082	8.183	0.31322	0.0:0.7405:0.0:0.2595	.	283	Q8IWD5	MFS6L_HUMAN	P	283	ENSP00000330051:R283P	ENSP00000330051:R283P	R	-	2	0	MFSD6L	8642316	0.995000	0.38212	0.154000	0.22540	0.479000	0.33129	3.315000	0.51951	0.673000	0.31224	0.655000	0.94253	CGA		0.592	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		10	99	0	0	0	1	0	10	99					G	8701591	C	G	8701591	3	3	288	1	0	0	0	0	1	0	0	0	9536	884	31	4	916	4	MFSD6L	17	8701591	Missense_Mutation	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08		8701591	72493619	21	5083											
ASPSCR1	79058	broad.mit.edu	37	17	79952715	79952715	+	Silent	SNP	C	C	T	rs370178683	byFrequency	TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr17:79952715C>T	ENST00000306739.4	+	5	490	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ASPSCR1_ENST00000306729.7_Silent_p.P131P|ASPSCR1_ENST00000581647.1_Silent_p.P131P|ASPSCR1_ENST00000580534.1_Silent_p.P54P	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	131					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	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)			TGCAGCACCCCGGCGGGGCCA	0.647			T	TFE3	alveolar soft part sarcoma								C|||	2	0.000399361	0	0	5008	,	,		15239	0		0	False		,,,				2504	0.002					uc002kcy.3				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(391-393)ccC>ccT		Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.		C		0,4406		0,0,2203	71	78	76		393	-3.5	0.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASPSCR1	NM_024083.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		131/554	79952715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79952715C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.393C>T	17.37:g.79952715C>T			Somatic				ASPSCR1_uc002kcx.3_Silent_p.P131P|ASPSCR1_uc021ufj.1_Silent_p.P54P|ASPSCR1_uc002kda.3_Silent_p.P54P|ASPSCR1_uc002kdb.1_Silent_p.P54P	p.P131P	NM_001251888	NP_001238817	WXS	Illumina GAIIx	Phase_I	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	490	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		131					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.393C>T	CCDS11796.1																																																																																				0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		30	64	0	0	0	1	0	30	64					T	79952715	C	T	79952715	2	4	288	1	0	0	0	0	0	0	0	1	1059	639	23	1		1	ASPSCR1	17	79952715	Silent	SNP	C	TCGA-EM-A3OA-01A-11D-A21Z-08	71251124	79952715	1242495	22	5084											
KIAA1632	57724	broad.mit.edu	37	18	43532379	43532379	+	Silent	SNP	G	G	A			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr18:43532379G>A	ENST00000282041.5	-	3	1273	c.1239C>T	c.(1237-1239)caC>caT	p.H413H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	413					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						GGCCTTGCTGGTGAATTGCTG	0.393																																						uc002lbm.3																			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.(1237-1239)caC>caT		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							113	104	107					18																	43532379		1899	4133	6032	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43532379G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1239C>T	18.37:g.43532379G>A			Somatic				EPG5_uc002lbo.1_Silent_p.H413H	p.H413H	NM_020964	NP_066015	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			2	1339	-			413					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.1239C>T	CCDS11926.2																																																																																				0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		62	92	0	0	0	1	0	62	92					A	43532379	G	A	43532379	2	1	288	1	0	0	0	0	0	0	0	1	8249	1252	44	2		2	KIAA1632	18	43532379	Silent	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08		43532379	34544869	23	5085											
DYRK1B	9149	broad.mit.edu	37	19	40318195	40318195	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:40318195A>G	ENST00000593685.1	-	7	1377	c.909T>C	c.(907-909)ctT>ctC	p.L303L	DYRK1B_ENST00000323039.5_Silent_p.L303L|DYRK1B_ENST00000348817.3_Silent_p.L303L|DYRK1B_ENST00000597639.1_Silent_p.L303L|DYRK1B_ENST00000430012.2_Silent_p.L303L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	303	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCATCTCCACAAGGATGCAGC	0.627																																						uc002omj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(907-909)ctT>ctC		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.							61	55	57					19																	40318195		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318195A>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.909T>C	19.37:g.40318195A>G			Somatic				DYRK1B_uc002omi.3_Silent_p.L303L|DYRK1B_uc002omk.3_Silent_p.L303L	p.L303L	NM_004714	NP_004705	WXS	Illumina GAIIx	Phase_I	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1189	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		303			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.909T>C	CCDS12543.1																																																																																				0.627	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	64	0	0	0	1	0	3	64					G	40318195	A	G	40318195	2	3	288	1	0	0	0	0	0	0	0	1	4855	117	5	3		3	DYRK1B	19	40318195	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		40318195	18810788	24	5086											
CABP5	56344	broad.mit.edu	37	19	48537535	48537535	+	Missense_Mutation	SNP	G	G	A	rs367863199		TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr19:48537535G>A	ENST00000293255.2	-	5	563	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	145	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GAGATCTCCCGGGGGGTGAGC	0.592																																						uc002phu.2																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.(433-435)Cgg>Tgg		Homo sapiens calcium binding protein 5 (CABP5), mRNA.		G	TRP/ARG	0,4406		0,0,2203	44	41	42		433	2.8	0.2	19		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	CABP5	NM_019855.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	145/174	48537535	1,13005	2203	4300	6503	SO:0001583	missense	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48537535G>A	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"EF-hand domain containing"	13714	protein-coding gene	gene with protein product		607315	"calcium binding protein 3"	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.433C>T	19.37:g.48537535G>A	ENSP00000293255:p.Arg145Trp		Somatic					p.R145W	NM_019855	NP_062829	WXS	Illumina GAIIx	Phase_I	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	4	565	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	145			EF-hand 4.		A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	c.433C>T	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494564	0.44352	0.0	1.16E-4	ENSG00000105507	ENST00000293255	T	0.71934	-0.61	5.01	2.84	0.33178	EF-hand-like domain (1);	0.270585	0.33309	N	0.005055	T	0.67915	0.2944	L	0.45352	1.415	0.09310	N	0.999998	D	0.65815	0.995	P	0.53266	0.722	T	0.59947	-0.7358	10	0.87932	D	0	-3.7414	6.2504	0.20842	0.0872:0.0:0.5861:0.3267	.	145	Q9NP86	CABP5_HUMAN	W	145	ENSP00000293255:R145W	ENSP00000293255:R145W	R	-	1	2	CABP5	53229347	0.005000	0.15991	0.187000	0.23214	0.776000	0.43924	1.559000	0.36320	0.627000	0.30340	-0.314000	0.08810	CGG		0.592	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		4	54	0	0	0	1	0	4	54					A	48537535	G	A	48537535	3	1	288	1	0	0	0	0	1	0	0	0	2534	1115	39	1	96	1	CABP5	19	48537535	Missense_Mutation	SNP	G	TCGA-EM-A3OA-01A-11D-A21Z-08	8219340	48537535	10591448	25	5087											
SNTA1	6640	broad.mit.edu	37	20	32026782	32026782	+	Silent	SNP	A	A	G			TCGA-EM-A3OA-01A-11D-A21Z-08	TCGA-EM-A3OA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bae43697-a5d2-4d7f-a5e4-83f011897f7e	1c8fb071-d66d-4f56-8886-a5720badd2ff	g.chr20:32026782A>G	ENST00000217381.2	-	2	632	c.361T>C	c.(361-363)Ttg>Ctg	p.L121L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	121	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCAGCTGCCAATCCCTTGAAG	0.527																																						uc002wzd.1																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(361-363)Ttg>Ctg		Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.							126	123	124					20																	32026782		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32026782A>G	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.361T>C	20.37:g.32026782A>G			Somatic				SNTA1_uc010zuf.1_Silent_p.L121L	p.L121L	NM_003098	NP_003089	WXS	Illumina GAIIx	Phase_I	Q13424	SNTA1_HUMAN			1	633	-			121			PDZ.|PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.361T>C	CCDS13220.1																																																																																				0.527	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		32	127	0	0	0	1	0	32	127					G	32026782	A	G	32026782	2	3	288	1	0	0	0	0	0	0	0	1	14871	98	4	3		3	SNTA1	20	32026782	Silent	SNP	A	TCGA-EM-A3OA-01A-11D-A21Z-08		32026782	30998738	26	5088											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		95	118	0	0	0	1	0	95	118					C	115256529	T	C	115256529	3	2	289	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		115256529	133994092	1	5089											
UTP3	57050	broad.mit.edu	37	4	71555625	71555625	+	Missense_Mutation	SNP	A	A	G	rs376767606		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:71555625A>G	ENST00000254803.2	+	1	1430	c.1231A>G	c.(1231-1233)Att>Gtt	p.I411V		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	411					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAAGAGAGCTATTACCTATCA	0.373																																						uc003hfo.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(1231-1233)Att>Gtt		Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.							75	81	79					4																	71555625		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555625A>G	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1231A>G	4.37:g.71555625A>G	ENSP00000254803:p.Ile411Val		Somatic					p.I411V	NM_020368	NP_065101	WXS	Illumina GAIIx	Phase_I	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		0	1430	+			411					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1231A>G	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975609	0.53720	.	.	ENSG00000132467	ENST00000254803	T	0.45276	0.9	5.46	5.46	0.80206	Something about silencing protein 10 (Sas10), C-terminal (1);	0.052709	0.85682	D	0.000000	T	0.53594	0.1806	M	0.67953	2.075	0.48762	D	0.9997	D	0.55605	0.972	P	0.58577	0.841	T	0.53732	-0.8397	10	0.37606	T	0.19	-8.2243	8.511	0.33217	0.8848:0.0:0.1152:0.0	.	411	Q9NQZ2	SAS10_HUMAN	V	411	ENSP00000254803:I411V	ENSP00000254803:I411V	I	+	1	0	UTP3	71774489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.232000	0.43018	2.191000	0.70037	0.533000	0.62120	ATT		0.373	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		49	55	0	0	0	1	0	49	55					G	71555625	A	G	71555625	3	3	289	1	0	0	0	0	1	0	0	0	17098	449	16	3	1233	3	UTP3	4	71555625	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		71555625	119598651	2	5090											
ADAMTS3	9508	broad.mit.edu	37	4	73178108	73178108	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:73178108T>A	ENST00000286657.4	-	13	1857	c.1821A>T	c.(1819-1821)aaA>aaT	p.K607N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	607					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTCAAAGTGTTTTTGGCATT	0.423																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1819-1821)aaA>aaT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.							183	157	166					4																	73178108		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73178108T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1821A>T	4.37:g.73178108T>A	ENSP00000286657:p.Lys607Asn		Somatic				ADAMTS3_uc003hgl.3_5'Flank	p.K607N	NM_014243	NP_055058	WXS	Illumina GAIIx	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1858	-			607					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1821A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661415	0.29515	.	.	ENSG00000156140	ENST00000286657	T	0.68331	-0.32	5.98	-4.05	0.03998	.	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.16478	0.41	0.45718	D	0.998629	P	0.45428	0.858	P	0.46452	0.517	T	0.50800	-0.8785	10	0.25106	T	0.35	.	15.8621	0.79032	0.0:0.69:0.0:0.31	.	607	O15072	ATS3_HUMAN	N	607	ENSP00000286657:K607N	ENSP00000286657:K607N	K	-	3	2	ADAMTS3	73396972	0.987000	0.35691	0.924000	0.36721	0.991000	0.79684	0.367000	0.20382	-0.562000	0.06086	-0.326000	0.08463	AAA		0.423	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			4	96	0	0	0	1	0	4	96					A	73178108	T	A	73178108	3	1	289	1	0	0	0	0	1	0	0	0	267	1722	60	5	1836	5	ADAMTS3	4	73178108	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08	1622483	73178108	117976168	3	5091											
PDE5A	8654	broad.mit.edu	37	4	120442128	120442128	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr4:120442128G>T	ENST00000354960.3	-	13	2186	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	PDE5A_ENST00000512739.1_5'Flank|PDE5A_ENST00000394439.1_Missense_Mutation_p.Q571K|PDE5A_ENST00000264805.5_Missense_Mutation_p.Q581K|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	623	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACATGCACTGAGCTGTATTA	0.333																																						uc003idh.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1867-1869)Cag>Aag		Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						134	136	136					4																	120442128		2202	4300	6502	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120442128G>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1867C>A	4.37:g.120442128G>T	ENSP00000347046:p.Gln623Lys		Somatic				PDE5A_uc003idf.3_Missense_Mutation_p.Q581K|PDE5A_uc003idg.3_Missense_Mutation_p.Q571K|AF085995_uc003idi.4_Intron	p.Q623K	NM_001083	NP_246273	WXS	Illumina GAIIx	Phase_I	O76074	PDE5A_HUMAN			12	2022	-			623			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1867C>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458570	0.96240	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.83506	-1.73;-1.73;-1.73	5.93	5.93	0.95920	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.052762	0.85682	D	0.000000	D	0.94981	0.8376	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	D	0.95979	0.8976	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	623;581	O76074;O76074-2	PDE5A_HUMAN;.	K	623;571;581	ENSP00000347046:Q623K;ENSP00000377957:Q571K;ENSP00000264805:Q581K	ENSP00000264805:Q581K	Q	-	1	0	PDE5A	120661576	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CAG		0.333	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		5	227	0	0	0	1	0	5	227					T	120442128	G	T	120442128	3	4	289	1	0	0	0	0	1	0	0	0	11644	1299	45	4	796	4	PDE5A	4	120442128	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	47264020	120442128	70712148	4	5092											
DNAH5	1767	broad.mit.edu	37	5	13788939	13788939	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:13788939T>C	ENST00000265104.4	-	51	8637	c.8533A>G	c.(8533-8535)Aag>Gag	p.K2845E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2845					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTAAAGCCTTATCAAACCAG	0.398									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8533-8535)Aag>Gag		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							125	118	120					5																	13788939		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13788939T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8533A>G	5.37:g.13788939T>C	ENSP00000265104:p.Lys2845Glu		Somatic					p.K2845E	NM_001369	NP_001360	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			50	8575	-	Lung NSC(4;0.00476)		2845					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8533A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	8.902	0.956523	0.18507	.	.	ENSG00000039139	ENST00000265104	T	0.38240	1.15	6.06	3.59	0.41128	.	0.443861	0.25994	N	0.026994	T	0.22704	0.0548	L	0.39020	1.185	0.18873	N	0.999987	B	0.02656	0.0	B	0.06405	0.002	T	0.19095	-1.0316	10	0.12766	T	0.61	.	6.385	0.21556	0.1444:0.143:0.0:0.7125	.	2845	Q8TE73	DYH5_HUMAN	E	2845	ENSP00000265104:K2845E	ENSP00000265104:K2845E	K	-	1	0	DNAH5	13841939	0.003000	0.15002	1.000000	0.80357	0.998000	0.95712	-0.033000	0.12246	1.126000	0.42016	0.533000	0.62120	AAG		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		3	141	0	0	0	1	0	3	141					C	13788939	T	C	13788939	3	2	289	1	0	0	0	0	1	0	0	0	4604	1763	61	3	5457	3	DNAH5	5	13788939	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		13788939	167126321	5	5093											
PCDHA6	56142	broad.mit.edu	37	5	140209347	140209347	+	Silent	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr5:140209347C>T	ENST00000529310.1	+	1	1785	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_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	557	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)			TCGTGCTGGACGAGAACGACA	0.687																																						uc003lho.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1669-1671)gaC>gaT		Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.							69	76	73					5																	140209347		2202	4299	6501	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140209347C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1671C>T	5.37:g.140209347C>T			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.D557D	p.D557D	NM_018909	NP_061732	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1698	+			571			Cadherin 5.		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1671C>T	CCDS47281.1																																																																																				0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		4	133	0	0	0	1	0	4	133					T	140209347	C	T	140209347	2	4	289	1	0	0	0	0	0	0	0	1	11528	535	19	1		1	PCDHA6	5	140209347	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	126420408	140209347	40705913	6	5094											
LANCL2	55915	broad.mit.edu	37	7	55479606	55479606	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr7:55479606G>A	ENST00000254770.2	+	6	1410	c.832G>A	c.(832-834)Gca>Aca	p.A278T		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	278					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			AAAGCCGGCAGCAAAAGTGGA	0.348																																						uc003tqp.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(832-834)Gca>Aca		Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.							56	61	59					7																	55479606		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55479606G>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"testis-specific adriamycin sensitivity protein", "G protein-coupled receptor 69B"	612919	"LanC (bacterial lantibiotic synthetase component C)-like 2"	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.832G>A	7.37:g.55479606G>A	ENSP00000254770:p.Ala278Thr		Somatic					p.A278T	NM_018697	NP_061167	WXS	Illumina GAIIx	Phase_I	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		5	1410	+	Breast(14;0.0379)		278					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.832G>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330127	0.41297	.	.	ENSG00000132434	ENST00000254770	T	0.42513	0.97	5.81	4.86	0.63082	Six-hairpin glycosidase-like (1);	0.162599	0.56097	D	0.000040	T	0.33265	0.0857	L	0.39397	1.21	0.54753	D	0.999989	B	0.16802	0.019	B	0.26614	0.071	T	0.07083	-1.0791	10	0.09843	T	0.71	.	13.18	0.59649	0.0:0.0:0.7554:0.2446	.	278	Q9NS86	LANC2_HUMAN	T	278	ENSP00000254770:A278T	ENSP00000254770:A278T	A	+	1	0	LANCL2	55447100	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.644000	0.54381	2.734000	0.93682	0.650000	0.86243	GCA		0.348	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		3	93	0	0	0	1	0	3	93					A	55479606	G	A	55479606	3	1	289	1	0	0	0	0	1	0	0	0	8621	971	34	2	854	2	LANCL2	7	55479606	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		55479606	103659057	7	5095											
HAUS6	54801	broad.mit.edu	37	9	19058159	19058159	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:19058159G>A	ENST00000380502.3	-	16	3073	c.2606C>T	c.(2605-2607)aCt>aTt	p.T869I	HAUS6_ENST00000380496.1_Missense_Mutation_p.T733I	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	869					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTTGGGGAGTAGGGCTCAA	0.423																																						uc003znk.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2605-2607)aCt>aTt		Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.							198	193	195					9																	19058159		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle		g.chr9:19058159G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2606C>T	9.37:g.19058159G>A	ENSP00000369871:p.Thr869Ile		Somatic				HAUS6_uc011lmz.2_Missense_Mutation_p.T589I|HAUS6_uc022bdv.1_Missense_Mutation_p.T733I|HAUS6_uc003znl.1_Missense_Mutation_p.T733I	p.T869I	NM_017645	NP_060115	WXS	Illumina GAIIx	Phase_I	Q7Z4H7	HAUS6_HUMAN			15	2859	-			869					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.2606C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	4.332	0.060946	0.08339	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.27890	1.64;1.65	5.8	3.54	0.40534	.	0.762218	0.12580	N	0.456489	T	0.21509	0.0518	L	0.31664	0.95	0.09310	N	1	P;P;P	0.49358	0.923;0.923;0.923	B;B;B	0.42087	0.375;0.375;0.375	T	0.06534	-1.0821	10	0.32370	T	0.25	0.0217	6.4407	0.21849	0.189:0.0:0.6736:0.1374	.	834;733;869	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	I	869;733	ENSP00000369871:T869I;ENSP00000369865:T733I	ENSP00000369865:T733I	T	-	2	0	HAUS6	19048159	0.000000	0.05858	0.003000	0.11579	0.196000	0.23810	0.389000	0.20751	0.518000	0.28383	0.467000	0.42956	ACT		0.423	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	228	0	0	0	1	0	4	228					A	19058159	G	A	19058159	3	1	289	1	0	0	0	0	1	0	0	0	6970	1029	36	2	269	2	HAUS6	9	19058159	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		19058159	122155272	8	5096											
C5	727	broad.mit.edu	37	9	123725972	123725972	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr9:123725972G>A	ENST00000223642.1	-	34	4294	c.4265C>T	c.(4264-4266)gCg>gTg	p.A1422V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1422					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTCCATCACCGCATGAGAGGA	0.358																																						uc004bkv.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4264-4266)gCg>gTg		Homo sapiens complement component 5 (C5), mRNA.	Eculizumab(DB01257)						79	75	76					9																	123725972		2203	4300	6503	SO:0001583	missense	727				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725972G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4265C>T	9.37:g.123725972G>A	ENSP00000223642:p.Ala1422Val		Somatic					p.A1422V	NM_001735	NP_001726	WXS	Illumina GAIIx	Phase_I	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	33	4295	-			1422					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4265C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844586	0.51164	.	.	ENSG00000106804	ENST00000223642	T	0.29142	1.58	5.33	4.43	0.53597	Alpha-macroglobulin, receptor-binding (3);	0.408843	0.29253	N	0.012695	T	0.24236	0.0587	L	0.42632	1.34	0.36848	D	0.887737	P	0.46784	0.884	B	0.38156	0.266	T	0.21484	-1.0244	10	0.54805	T	0.06	.	9.8198	0.40876	0.0945:0.0:0.9055:0.0	.	1422	P01031	CO5_HUMAN	V	1422	ENSP00000223642:A1422V	ENSP00000223642:A1422V	A	-	2	0	C5	122765793	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	3.301000	0.51842	1.254000	0.44035	0.655000	0.94253	GCG		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		3	79	0	0	0	1	0	3	79					A	123725972	G	A	123725972	3	1	289	1	0	0	0	0	1	0	0	0	2280	1087	38	1	797	1	C5	9	123725972	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	104667813	123725972	17487459	9	5097											
ANXA7	310	broad.mit.edu	37	10	75156277	75156277	+	Splice_Site	SNP	C	C	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr10:75156277C>A	ENST00000372921.5	-	5	491	c.435G>T	c.(433-435)caG>caT	p.Q145H	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Splice_Site_p.Q15H	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	145					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AACAAAATACCTGACTAGGGT	0.418																																						uc001jtz.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.e5+1		Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.							69	66	67					10																	75156277		2203	4300	6503	SO:0001630	splice_region_variant	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75156277C>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.435+1G>T	10.37:g.75156277C>A			Somatic				ANXA7_uc001jua.2_Splice_Site_p.Q145_splice|ANXA7_uc010qki.1_Splice_Site_p.Q55_splice|ANXA7_uc009xre.3_Splice_Site_p.Q74_splice|ANXA7_uc009xrf.1_Splice_Site_p.Q87_splice	p.Q145_splice	NM_004034	NP_004025	WXS	Illumina GAIIx	Phase_I	P20073	ANXA7_HUMAN			5	508	-	Prostate(51;0.0119)		145					Q5F2H3|Q5T0M6|Q5T0M7	Splice_Site	SNP	ENST00000372921.5	37	c.435_splice	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903893	0.52333	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.04862	3.54;4.42;3.54	5.48	4.57	0.56435	.	2.499150	0.01058	N	0.004597	T	0.12263	0.0298	N	0.08118	0	0.25069	N	0.991005	D;D;D;D;D	0.76494	0.997;0.997;0.98;0.996;0.999	P;P;P;D;D	0.69142	0.878;0.825;0.73;0.937;0.962	T	0.48636	-0.9018	9	.	.	.	.	10.4031	0.44241	0.0:0.9094:0.0:0.0906	.	145;145;72;145;145	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	H	145;145;15	ENSP00000362012:Q145H;ENSP00000362010:Q145H;ENSP00000442864:Q15H	.	Q	-	3	2	ANXA7	74826283	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.505000	0.53356	1.439000	0.47511	0.650000	0.86243	CAG		0.418	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	Missense_Mutation	3	62	0	0	0	1	0	3	62					A	75156277	C	A	75156277	5	1	289	1	0	0	0	0	0	0	1	0	723	695	24	4	1071	4	ANXA7	10	75156277	Splice_Site	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		75156277	60378470	10	5098											
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr11:18505466T>C	ENST00000251968.3	-	8	1209	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000536719.1_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438																																					GBM(99;1348 1396 8611 26475 50572)	uc001mor.3																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(793-795)aAg>aGg		Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.							262	254	257					11																	18505466		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505466T>C	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.794A>G	11.37:g.18505466T>C	ENSP00000251968:p.Lys265Arg		Somatic					p.K265R	NM_006292	NP_006283	WXS	Illumina GAIIx	Phase_I	Q99816	TS101_HUMAN			7	934	-			265					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.794A>G	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030954	0.54790	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.52983	0.64;0.64;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.41710	1.295	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.19147	T	0.46	-23.3487	14.3285	0.66537	0.0:0.0:0.0:1.0	.	265	Q99816	TS101_HUMAN	R	265;265;160	ENSP00000438471:K265R;ENSP00000251968:K265R;ENSP00000349721:K160R	ENSP00000251968:K265R	K	-	2	0	TSG101	18462042	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.375000	0.79646	2.125000	0.65367	0.459000	0.35465	AAG		0.438	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		4	428	0	0	0	1	0	4	428					C	18505466	T	C	18505466	3	2	289	1	0	0	0	0	1	0	0	0	16613	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-EM-A3OB-01A-11D-A21Z-08		18505466	116501050	11	5099											
AMDHD1	144193	broad.mit.edu	37	12	96354366	96354366	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr12:96354366C>T	ENST00000266736.2	+	5	884	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	260					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GATTAACTTCCATGGGGATGA	0.423																																						uc001tel.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(778-780)Cat>Tat		Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.							104	101	102					12																	96354366		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354366C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.778C>T	12.37:g.96354366C>T	ENSP00000266736:p.His260Tyr		Somatic				AMDHD1_uc009zth.2_Missense_Mutation_p.H151Y	p.H260Y	NM_152435	NP_689648	WXS	Illumina GAIIx	Phase_I	Q96NU7	HUTI_HUMAN			4	884	+			260					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.778C>T	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644972	0.87859	.	.	ENSG00000139344	ENST00000266736	D	0.83591	-1.74	5.55	5.55	0.83447	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96698	0.9516	10	0.87932	D	0	-2.0925	19.8741	0.96863	0.0:1.0:0.0:0.0	.	260	Q96NU7	HUTI_HUMAN	Y	260	ENSP00000266736:H260Y	ENSP00000266736:H260Y	H	+	1	0	AMDHD1	94878497	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.166000	0.77553	2.761000	0.94854	0.655000	0.94253	CAT		0.423	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		11	125	0	0	0	1	0	11	125					T	96354366	C	T	96354366	3	4	289	1	0	0	0	0	1	0	0	0	567	594	21	2	796	2	AMDHD1	12	96354366	Missense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		96354366	37497529	12	5100											
WRAP53	55135	broad.mit.edu	37	17	7604998	7604998	+	Silent	SNP	G	G	A	rs34740153		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:7604998G>A	ENST00000316024.5	+	6	3194	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WRAP53_ENST00000534050.1_Silent_p.S249S|WRAP53_ENST00000431639.2_Silent_p.S282S|WRAP53_ENST00000457584.2_Silent_p.S282S|WRAP53_ENST00000396463.2_Silent_p.S282S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	282					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGCCCATTCGCTCTGCTTCT	0.622																																						uc010vuh.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(844-846)tcG>tcA		Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.		G	,,,	1,4405	4.2+/-10.8	0,1,2202	92	83	86		846,846,846,846	-8.8	1.0	17	dbSNP_126	86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WRAP53	NM_001143990.1,NM_001143991.1,NM_001143992.1,NM_018081.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	282/549,282/549,282/549,282/549	7604998	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding	g.chr17:7604998G>A	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.846G>A	17.37:g.7604998G>A			Somatic				WRAP53_uc010vui.2_Silent_p.S282S|WRAP53_uc002gip.3_Silent_p.S282S|WRAP53_uc002gir.3_Silent_p.S282S|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.S249S|WRAP53_uc010vuj.2_Silent_p.S63S	p.S282S	NM_001143990	NP_060551	WXS	Illumina GAIIx	Phase_I	Q9BUR4	WAP53_HUMAN			6	1001	+			282					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.846G>A	CCDS11119.1																																																																																				0.622	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		24	28	0	0	0	1	0	24	28					A	7604998	G	A	7604998	2	1	289	1	0	0	0	0	0	0	0	1	17397	1074	38	1		1	WRAP53	17	7604998	Silent	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		7604998	73590212	13	5101											
MYO15A	51168	broad.mit.edu	37	17	18023164	18023164	+	Silent	SNP	C	C	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:18023164C>T	ENST00000205890.5	+	2	1388	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	350					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)					CGCCGTACGACGCGCCATACC	0.607																																						uc021trm.1																			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.(1048-1050)gaC>gaT		Homo sapiens myosin XVA (MYO15A), mRNA.							82	93	89					17																	18023164		2034	4177	6211	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18023164C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1050C>T	17.37:g.18023164C>T			Somatic				MYO15A_uc021trl.1_Silent_p.D350D	p.D350D	NM_016239	NP_057323	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			0	1269	+	all_neural(463;0.228)		350			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.1050C>T	CCDS42271.1																																																																																				0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		10	180	0	0	0	1	0	10	180					T	18023164	C	T	18023164	2	4	289	1	0	0	0	0	0	0	0	1	10063	535	19	1		1	MYO15A	17	18023164	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	10418166	18023164	63172046	14	5102											
OTOP3	347741	broad.mit.edu	37	17	72945406	72945406	+	Nonsense_Mutation	SNP	C	C	A	rs562755377		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr17:72945406C>A	ENST00000328801.4	+	7	1686	c.1686C>A	c.(1684-1686)taC>taA	p.Y562*		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	562						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGATTTCTACGGCTACCAGA	0.567																																						uc010wrr.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1684-1686)taC>taA		Homo sapiens otopetrin 3 (OTOP3), mRNA.							84	80	81					17																	72945406		2203	4300	6503	SO:0001587	stop_gained	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72945406C>A	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1686C>A	17.37:g.72945406C>A	ENSP00000328090:p.Tyr562*		Somatic				OTOP3_uc010wrq.2_Nonsense_Mutation_p.Y544*	p.Y562*	NM_178233	NP_839947	WXS	Illumina GAIIx	Phase_I	Q7RTS5	OTOP3_HUMAN			6	1686	+	all_lung(278;0.151)|Lung NSC(278;0.185)		562						Nonsense_Mutation	SNP	ENST00000328801.4	37	c.1686C>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774400	0.90108	.	.	ENSG00000182938	ENST00000328801	.	.	.	4.28	-2.74	0.05932	.	0.086498	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9095	12.3382	0.55079	0.0:0.5365:0.0:0.4635	.	.	.	.	X	562	.	ENSP00000328090:Y562X	Y	+	3	2	OTOP3	70457001	0.020000	0.18652	0.991000	0.47740	0.900000	0.52787	-0.763000	0.04740	-0.576000	0.05974	0.313000	0.20887	TAC		0.567	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		3	125	0	0	0	1	0	3	125					A	72945406	C	A	72945406	4	1	289	1	0	0	0	0	0	1	0	0	11307	547	19	4	1712	4	OTOP3	17	72945406	Nonsense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	54922242	72945406	8249804	15	5103											
MYOM1	8736	broad.mit.edu	37	18	3187546	3187546	+	Silent	SNP	C	C	A			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr18:3187546C>A	ENST00000356443.4	-	5	1194	c.861G>T	c.(859-861)acG>acT	p.T287T	MYOM1_ENST00000400569.3_Silent_p.T287T|MYOM1_ENST00000261606.7_Silent_p.T287T|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	287	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTCCCAAACCGTGTGGGAGC	0.428																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(859-861)acG>acT		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							138	132	134					18																	3187546		1972	4149	6121	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3187546C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.861G>T	18.37:g.3187546C>A			Somatic				MYOM1_uc002klq.3_Silent_p.T287T	p.T287T	NM_003803	NP_003794	WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			4	1195	-			287			Ig-like C2-type 1.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.861G>T	CCDS45824.1																																																																																				0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	127	0	0	0	1	0	5	127					A	3187546	C	A	3187546	2	1	289	1	0	0	0	0	0	0	0	1	10091	639	23	4		4	MYOM1	18	3187546	Silent	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		3187546	74889702	16	5104											
COL5A3	50509	broad.mit.edu	37	19	10114264	10114264	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr19:10114264G>T	ENST00000264828.3	-	6	911	c.826C>A	c.(826-828)Cct>Act	p.P276T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	276	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGTCAGGAGGTGGACTTGAG	0.557											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(826-828)Cct>Act		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							247	187	207					19																	10114264		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114264G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.826C>A	19.37:g.10114264G>T	ENSP00000264828:p.Pro276Thr		Somatic	OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662		p.P276T	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		5	912	-			276			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.826C>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	6.728	0.503062	0.12822	.	.	ENSG00000080573	ENST00000264828	D	0.88818	-2.43	3.86	-1.9	0.07665	.	3.506420	0.00827	N	0.001625	T	0.75140	0.3809	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65792	-0.6082	10	0.12430	T	0.62	.	5.7308	0.18038	0.1046:0.0:0.3522:0.5432	.	276	P25940	CO5A3_HUMAN	T	276	ENSP00000264828:P276T	ENSP00000264828:P276T	P	-	1	0	COL5A3	9975264	0.002000	0.14202	0.002000	0.10522	0.366000	0.29705	-0.344000	0.07780	-0.332000	0.08489	0.456000	0.33151	CCT		0.557	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	107	0	0	0	1	0	8	107					T	10114264	G	T	10114264	3	4	289	1	0	0	0	0	1	0	0	0	3698	1261	44	4	4659	4	COL5A3	19	10114264	Missense_Mutation	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08		10114264	49014719	17	5105											
DEFB119	245932	broad.mit.edu	37	20	29976952	29976952	+	Intron	SNP	C	C	T	rs372464953		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:29976952C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.R48Q|DEFB119_ENST00000492344.1_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AACACAGCACCGTTTACGATT	0.458																																						uc002wvu.1																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(142-144)cGg>cAg		Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.		C	,GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	203	174	184		,143,	2.5	0.4	20		184	0,8600		0,0,4300	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,43,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,48/89,	29976952	1,13005	2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976952C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1273G>A	20.37:g.29976952C>T			Somatic				DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	p.R48Q	NM_153323	NP_697018	WXS	Illumina GAIIx	Phase_I	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	263	-	all_hematologic(12;0.158)		54					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.143G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709823	0.89018	2.27E-4	0.0	ENSG00000180483	ENST00000376315	T	0.11495	2.77	3.49	2.53	0.30540	.	1.825100	0.03092	N	0.159957	T	0.19725	0.0474	.	.	.	0.09310	N	0.999999	D	0.69078	0.997	P	0.52309	0.695	T	0.11421	-1.0588	9	0.87932	D	0	-4.3313	6.1	0.20041	0.0:0.8559:0.0:0.1441	.	48	Q8N690-2	.	Q	48	ENSP00000365492:R48Q	ENSP00000365492:R48Q	R	-	2	0	DEFB119	29440613	0.624000	0.27102	0.436000	0.26797	0.980000	0.70556	1.484000	0.35508	1.024000	0.39682	0.563000	0.77884	CGG		0.458	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		3	151	0	0	0	1	0	3	151					T	29976952	C	T	29976952	1	4	289	0	1	0	0	0	0	0	0	0	4407	652	23	1		1	DEFB119	20	29976952	Intron	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08		29976952	33048568	18	5106											
ZNFX1	57169	broad.mit.edu	37	20	47865945	47865945	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chr20:47865945C>G	ENST00000396105.1	-	14	3862	c.3616G>C	c.(3616-3618)Ggc>Cgc	p.G1206R	ZNFX1_ENST00000371752.1_Missense_Mutation_p.G1206R|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1206							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACCTTGCCTTCTTGGTTG	0.522																																						uc002xui.3																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3616-3618)Ggc>Cgc		Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.							172	153	159					20																	47865945		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865945C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3616G>C	20.37:g.47865945C>G	ENSP00000379412:p.Gly1206Arg		Somatic					p.G1206R	NM_021035	NP_066363	WXS	Illumina GAIIx	Phase_I	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		13	3863	-			1206					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3616G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495035	0.44352	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.82433	-1.61;-1.61	6.03	6.03	0.97812	.	0.117723	0.64402	D	0.000020	T	0.79907	0.4527	L	0.42529	1.33	0.58432	D	0.999998	B	0.29508	0.246	B	0.33254	0.16	T	0.73836	-0.3857	10	0.18276	T	0.48	-23.7063	19.1207	0.93362	0.0:1.0:0.0:0.0	.	1206	Q9P2E3	ZNFX1_HUMAN	R	1206	ENSP00000360817:G1206R;ENSP00000379412:G1206R	ENSP00000360817:G1206R	G	-	1	0	ZNFX1	47299352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.864000	0.62990	2.861000	0.98227	0.655000	0.94253	GGC		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	205	0	0	0	1	0	4	205					G	47865945	C	G	47865945	3	3	289	1	0	0	0	0	1	0	0	0	18202	681	24	4	2144	4	ZNFX1	20	47865945	Missense_Mutation	SNP	C	TCGA-EM-A3OB-01A-11D-A21Z-08	17888993	47865945	15159575	19	5107											
IQSEC2	23096	broad.mit.edu	37	X	53268422	53268422	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:53268422A>T	ENST00000375368.5	-	10	3240	c.3040T>A	c.(3040-3042)Tct>Act	p.S1014T	IQSEC2_ENST00000375365.2_Missense_Mutation_p.S819T|IQSEC2_ENST00000396435.3_Missense_Mutation_p.S1024T			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1014	PH.				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)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGGGGGAAAGACTGACGGAAA	0.512											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dsd.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(3070-3072)Tct>Act		Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.							113	103	106					X																	53268422		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53268422A>T	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3040T>A	X.37:g.53268422A>T	ENSP00000364517:p.Ser1014Thr		Somatic	OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	IQSEC2_uc004dsc.3_Missense_Mutation_p.S819T	p.S1024T	NM_001111125	NP_001104595	WXS	Illumina GAIIx	Phase_I	Q5JU85	IQEC2_HUMAN			10	3271	-			1014			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3070T>A		.	.	.	.	.	.	.	.	.	.	A	23.8	4.457935	0.84317	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.54866	0.55;0.55;0.55	5.61	5.61	0.85477	.	0.113988	0.64402	D	0.000009	T	0.64972	0.2647	M	0.62088	1.915	0.53688	D	0.999979	B;P	0.49447	0.184;0.924	B;P	0.61533	0.107;0.89	T	0.66646	-0.5871	10	0.52906	T	0.07	.	9.568	0.39411	0.8408:0.0:0.0:0.1592	.	1024;819	Q5JU85-2;Q5JU85-3	.;.	T	1024;1014;819	ENSP00000379712:S1024T;ENSP00000364517:S1014T;ENSP00000364514:S819T	ENSP00000364514:S819T	S	-	1	0	IQSEC2	53285147	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.614000	0.54160	1.888000	0.54679	0.416000	0.27883	TCT		0.512	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		23	41	0	0	0	1	0	23	41					T	53268422	A	T	53268422	3	4	289	1	0	0	0	0	1	0	0	0	7818	275	10	5	1416	5	IQSEC2	23	53268422	Missense_Mutation	SNP	A	TCGA-EM-A3OB-01A-11D-A21Z-08		53268422	102002138	20	5108											
RAB39B	116442	broad.mit.edu	37	X	154490295	154490295	+	Silent	SNP	G	G	A	rs376181426		TCGA-EM-A3OB-01A-11D-A21Z-08	TCGA-EM-A3OB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32f66154-4799-4012-a4cf-9f492022e339	7267fa1d-9982-4712-8551-66d2fdb3778c	g.chrX:154490295G>A	ENST00000369454.3	-	2	735	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTCATGCCGTATGCAGCAG	0.498																																						uc004fne.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(433-435)taC>taT		Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.		G		1,3834		0,1,1631,571	113	94	100		435	0.3	1.0	X		100	0,6728		0,0,2428,1872	no	coding-synonymous	RAB39B	NM_171998.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		145/214	154490295	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490295G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.435C>T	X.37:g.154490295G>A			Somatic					p.Y145Y	NM_171998	NP_741995	WXS	Illumina GAIIx	Phase_I	Q96DA2	RB39B_HUMAN			1	714	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		145					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.435C>T	CCDS14766.1																																																																																				0.498	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		4	96	0	0	0	1	0	4	96					A	154490295	G	A	154490295	2	1	289	1	0	0	0	0	0	0	0	1	12930	1140	40	1		1	RAB39B	23	154490295	Silent	SNP	G	TCGA-EM-A3OB-01A-11D-A21Z-08	101221873	154490295	780265	21	5109											
PKN2	5586	broad.mit.edu	37	1	89273120	89273120	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:89273120A>G	ENST00000370521.3	+	13	2287	c.1928A>G	c.(1927-1929)gAc>gGc	p.D643G	PKN2_ENST00000370513.5_Missense_Mutation_p.D595G|PKN2_ENST00000370505.3_Missense_Mutation_p.D486G|PKN2_ENST00000544045.1_Missense_Mutation_p.D317G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	643					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAACTTGAGGACAGAAGGTAA	0.333																																						uc001dmn.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1927-1929)gAc>gGc		Homo sapiens protein kinase N2 (PKN2), mRNA.							101	96	97					1																	89273120		1828	4079	5907	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89273120A>G	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1928A>G	1.37:g.89273120A>G	ENSP00000359552:p.Asp643Gly		Somatic				PKN2_uc010osp.2_Missense_Mutation_p.D627G|PKN2_uc010osq.2_Missense_Mutation_p.D486G|PKN2_uc009wcv.3_Missense_Mutation_p.D595G|PKN2_uc010osr.2_Missense_Mutation_p.D308G	p.D643G	NM_006256	NP_006247	WXS	Illumina GAIIx	Phase_I	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	12	2270	+		Lung NSC(277;0.123)	643					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1928A>G	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	4.173	0.030685	0.08101	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.69435	-0.39;-0.39;-0.4;-0.39	5.97	5.97	0.96955	Protein kinase-like domain (1);	0.141093	0.31323	U	0.007847	T	0.44829	0.1312	L	0.44542	1.39	0.46725	D	0.99917	B;B;B	0.24258	0.0;0.1;0.1	B;B;B	0.18561	0.002;0.022;0.022	T	0.43163	-0.9408	10	0.22706	T	0.39	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	627;595;643	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	G	643;486;595;317	ENSP00000359552:D643G;ENSP00000359536:D486G;ENSP00000359544:D595G;ENSP00000439643:D317G	ENSP00000359536:D486G	D	+	2	0	PKN2	89045708	0.999000	0.42202	0.990000	0.47175	0.228000	0.25075	3.579000	0.53900	2.285000	0.76669	0.477000	0.44152	GAC		0.333	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		5	89	0	0	0	1	0	5	89					G	89273120	A	G	89273120	3	3	290	1	0	0	0	0	1	0	0	0	11980	275	10	3	1978	3	PKN2	1	89273120	Missense_Mutation	SNP	A	TCGA-EM-A4FK-01A-11D-A257-08		89273120	159977501	1	5110											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		66	107	0	0	0	1	0	66	107					C	115256529	T	C	115256529	3	2	290	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08	25983409	115256529	133994092	2	5111											
HMCN1	83872	broad.mit.edu	37	1	185834992	185834992	+	Silent	SNP	T	T	C			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr1:185834992T>C	ENST00000271588.4	+	4	847	c.618T>C	c.(616-618)aaT>aaC	p.N206N	HMCN1_ENST00000367492.2_Silent_p.N206N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	206	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACAAGTTAATGAGGTCAGTT	0.353																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(616-618)aaT>aaC		Homo sapiens hemicentin 1 (HMCN1), mRNA.							74	76	75					1																	185834992		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185834992T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.618T>C	1.37:g.185834992T>C			Somatic					p.N206N	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			3	847	+			206			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.618T>C	CCDS30956.1																																																																																				0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	19	0	0	0	1	0	10	19					C	185834992	T	C	185834992	2	2	290	1	0	0	0	0	0	0	0	1	7220	1461	51	3		3	HMCN1	1	185834992	Silent	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08	70578463	185834992	63415629	3	5112											
TNXB	7148	broad.mit.edu	37	6	32015643	32015643	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr6:32015643C>T	ENST00000375244.3	-	30	10393	c.10192G>A	c.(10192-10194)Gtg>Atg	p.V3398M	TNXB_ENST00000375247.2_Missense_Mutation_p.V3396M|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3443	Fibronectin type-III 25. {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						ACCGGCACCACCTGGAGCCGA	0.612																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10186-10188)Gtg>Atg		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							31	38	36					6																	32015643		1428	2650	4078	SO:0001583	missense	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.chr6:32015643C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10192G>A	6.37:g.32015643C>T	ENSP00000364393:p.Val3398Met		Somatic				TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.V3396M	NM_019105	NP_061978	WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			29	10388	-			3443					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10186G>A		.	.	.	.	.	.	.	.	.	.	C	7.008	0.556275	0.13436	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57907	0.37;0.37	4.76	1.99	0.26369	.	0.921592	0.08990	N	0.864568	T	0.27063	0.0663	L	0.50333	1.59	0.09310	N	1	B	0.21520	0.057	B	0.27380	0.079	T	0.40079	-0.9582	10	0.46703	T	0.11	.	7.8756	0.29592	0.0:0.7316:0.0:0.2684	.	3396	P22105-3	.	M	3398;3396	ENSP00000364393:V3398M;ENSP00000364396:V3396M	ENSP00000364393:V3398M	V	-	1	0	TNXB	32123621	0.053000	0.20554	0.005000	0.12908	0.005000	0.04900	0.587000	0.23909	0.219000	0.20840	0.591000	0.81541	GTG		0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	14	0	0	0	1	0	10	14					T	32015643	C	T	32015643	3	4	290	1	0	0	0	0	1	0	0	0	16343	507	18	2	4587	2	TNXB	6	32015643	Missense_Mutation	SNP	C	TCGA-EM-A4FK-01A-11D-A257-08		32015643	139099424	4	5113											
DCHS1	8642	broad.mit.edu	37	11	6653563	6653563	+	Silent	SNP	T	T	G			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr11:6653563T>G	ENST00000299441.3	-	6	3591	c.3180A>C	c.(3178-3180)ctA>ctC	p.L1060L	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1060	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCACGGTCTAGTGCTGCCC	0.592																																						uc001mem.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3178-3180)ctA>ctC		Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.							98	83	88					11																	6653563		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653563T>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3180A>C	11.37:g.6653563T>G			Somatic					p.L1060L	NM_003737	NP_003728	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	3581	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1060			Cadherin 10.		O15098	Silent	SNP	ENST00000299441.3	37	c.3180A>C	CCDS7771.1																																																																																				0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	29	0	0	0	1	0	18	29					G	6653563	T	G	6653563	2	3	290	1	0	0	0	0	0	0	0	1	4287	1509	53	5		5	DCHS1	11	6653563	Silent	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08		6653563	128352953	5	5114											
KIAA1409	57578	broad.mit.edu	37	14	94067104	94067104	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr14:94067104C>T	ENST00000393151.2	+	25	3562	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S	UNC79_ENST00000553484.1_Missense_Mutation_p.P1188S|UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1188					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)				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						CAAGGAATTTCCTTTTCCTAC	0.403																																						uc001ybv.1																			0				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.(3031-3033)Cct>Tct		Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.							84	81	82					14																	94067104		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94067104C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3562C>T	14.37:g.94067104C>T	ENSP00000376858:p.Pro1188Ser		Somatic				UNC79_uc001ybs.1_Missense_Mutation_p.P1011S	p.P1011S	NM_020818	NP_065869	WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			21	3114	+			1188					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3031C>T		.	.	.	.	.	.	.	.	.	.	C	15.39	2.820897	0.50633	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	N	0.05078	-0.115	0.58432	D	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.28681	-1.0036	10	0.12766	T	0.61	-14.614	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1188	C9JQL1	.	S	1011;1188;1188;1188;1188	ENSP00000256339:P1011S;ENSP00000450868:P1188S;ENSP00000451360:P1188S;ENSP00000376858:P1188S	ENSP00000256339:P1011S	P	+	1	0	KIAA1409	93136857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCT		0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	15	0	0	0	1	0	7	15					T	94067104	C	T	94067104	3	4	290	1	0	0	0	0	1	0	0	0	8230	855	30	2	3117	2	KIAA1409	14	94067104	Missense_Mutation	SNP	C	TCGA-EM-A4FK-01A-11D-A257-08		94067104	13282436	6	5115											
ANKRD11	29123	broad.mit.edu	37	16	89345698	89345698	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr16:89345698T>C	ENST00000301030.4	-	9	7712	c.7252A>G	c.(7252-7254)Atc>Gtc	p.I2418V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.I2418V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2418					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCCACGATGGCGGCCAGC	0.617																																						uc002fmx.1																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7252-7254)Atc>Gtc		Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.							25	23	24					16																	89345698		2198	4299	6497	SO:0001583	missense	29123					nucleus		g.chr16:89345698T>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7252A>G	16.37:g.89345698T>C	ENSP00000301030:p.Ile2418Val		Somatic				ANKRD11_uc002fmy.1_Missense_Mutation_p.I2418V|ANKRD11_uc002fnc.1_Missense_Mutation_p.I2418V|ANKRD11_uc002fna.1_Missense_Mutation_p.I83V|ANKRD11_uc002fnb.1_Missense_Mutation_p.I2375V	p.I2418V	NM_013275	NP_037407	WXS	Illumina GAIIx	Phase_I	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	7713	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2418					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7252A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	t	10.16	1.274966	0.23307	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42513	0.97;0.97	4.96	4.96	0.65561	.	0.259771	0.30492	N	0.009519	T	0.38241	0.1033	L	0.50333	1.59	0.80722	D	1	B	0.29188	0.236	B	0.26416	0.069	T	0.21008	-1.0258	10	0.37606	T	0.19	.	14.6349	0.68682	0.0:0.0:0.0:1.0	.	2418	Q6UB99	ANR11_HUMAN	V	2418	ENSP00000301030:I2418V;ENSP00000367581:I2418V	ENSP00000301030:I2418V	I	-	1	0	ANKRD11	87873199	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	3.767000	0.55288	1.865000	0.54081	0.157000	0.16456	ATC		0.617	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	17	0	0	0	1	0	7	17					C	89345698	T	C	89345698	3	2	290	1	0	0	0	0	1	0	0	0	639	1464	51	3	759	3	ANKRD11	16	89345698	Missense_Mutation	SNP	T	TCGA-EM-A4FK-01A-11D-A257-08		89345698	1009055	7	5116											
RBM12	10137	broad.mit.edu	37	20	34241438	34241438	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FK-01A-11D-A257-08	TCGA-EM-A4FK-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04e58e29-933d-4488-91a8-06a5ee8f408d	db575be4-4c41-4cf6-8883-b31b1377db2c	g.chr20:34241438G>A	ENST00000374114.3	-	3	2070	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R603C|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R603C	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	603						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)			CGGTGTAAGCGTTCAGACTTA	0.398																																						uc002xdq.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.(1807-1809)Cgc>Tgc		Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.							183	175	178					20																	34241438		2203	4300	6503	SO:0001583	missense	10137					nucleus	RNA binding|nucleotide binding|protein binding	g.chr20:34241438G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1807C>T	20.37:g.34241438G>A	ENSP00000363228:p.Arg603Cys		Somatic				CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xds.3_Missense_Mutation_p.R603C|RBM12_uc002xdr.3_Missense_Mutation_p.R603C|RBM12_uc021wcq.1_Missense_Mutation_p.R603C|RBM12_uc021wcr.1_Missense_Mutation_p.R603C	p.R603C	NM_152838	NP_690051	WXS	Illumina GAIIx	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		2	2079	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		603					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1807C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271231	0.40194	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.17528	2.27;2.27;2.27	5.1	3.18	0.36537	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.071171	0.56097	D	0.000034	T	0.18718	0.0449	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.04347	-1.0958	10	0.87932	D	0	1.8231	11.2924	0.49258	0.1452:0.0:0.8548:0.0	.	603	Q9NTZ6	RBM12_HUMAN	C	603;603;603;402	ENSP00000363228:R603C;ENSP00000352668:R603C;ENSP00000363217:R603C	ENSP00000339879:R402C	R	-	1	0	RBM12	33704852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.735000	0.62051	0.747000	0.32809	-0.251000	0.11542	CGC		0.398	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		54	95	0	0	0	1	0	54	95					A	34241438	G	A	34241438	3	1	290	1	0	0	0	0	1	0	0	0	13113	1145	40	1	995	1	RBM12	20	34241438	Missense_Mutation	SNP	G	TCGA-EM-A4FK-01A-11D-A257-08		34241438	28784082	8	5117											
SENP2	59343	broad.mit.edu	37	3	185337150	185337150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr3:185337150delC	ENST00000296257.5	+	13	1546	c.1306delC	c.(1306-1308)catfs	p.H436fs	SENP2_ENST00000427465.2_Frame_Shift_Del_p.H260fs|SENP2_ENST00000545472.1_Frame_Shift_Del_p.H426fs	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	436	Protease.				cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCAGCACTTCATGTATTCAG	0.373																																						uc003fpn.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(1306-1308)catfs		Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.							71	76	74					3																	185337150		2203	4300	6503	SO:0001589	frameshift_variant	59343				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding	g.chr3:185337150delC	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1306delC	3.37:g.185337150delC	ENSP00000296257:p.His436fs		Somatic				SENP2_uc011brv.2_Frame_Shift_Del_p.H426fs|SENP2_uc011brw.2_Frame_Shift_Del_p.H249fs	p.H436fs	NM_021627	NP_067640	WXS	Illumina GAIIx	Phase_I	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		12	1477	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		436			Protease.		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Frame_Shift_Del	DEL	ENST00000296257.5	37	c.1306delC	CCDS33902.1																																																																																				0.373	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		26	34						26	34	---	---	---	---	-	185337150	C	-	185337150	7	5	291	1	0	1	0	1	0	0	0	0	14047	826	29	0	1356	0	SENP2	3	185337150	Frame_Shift_Del	DEL	C	TCGA-EM-A4FM-01A-11D-A257-08		185337150	12685280	1	5118											
PLEKHG4B	153478	broad.mit.edu	37	5	156214	156214	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:156214A>T	ENST00000283426.6	+	8	1219	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	390							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCAGCATGAGACGATGATG	0.582																																						uc003jak.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1168-1170)gAg>gTg		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.							129	120	123					5																	156214		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:156214A>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1169A>T	5.37:g.156214A>T	ENSP00000283426:p.Glu390Val		Somatic					p.E390V	NM_052909	NP_443141	WXS	Illumina GAIIx	Phase_I	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	7	1219	+			390						Missense_Mutation	SNP	ENST00000283426.6	37	c.1169A>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432414	0.43224	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.29917	1.55;2.97	3.65	-1.63	0.08345	.	.	.	.	.	T	0.21801	0.0525	L	0.40543	1.245	0.09310	N	1	P	0.48230	0.907	B	0.41036	0.346	T	0.13791	-1.0496	9	0.44086	T	0.13	.	7.0739	0.25193	0.641:0.0:0.359:0.0	.	390	Q96PX9	PKH4B_HUMAN	V	390;304	ENSP00000283426:E390V;ENSP00000422493:E304V	ENSP00000283426:E390V	E	+	2	0	PLEKHG4B	209214	0.932000	0.31603	0.000000	0.03702	0.007000	0.05969	1.530000	0.36007	-0.527000	0.06374	0.383000	0.25322	GAG		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		26	46	0	0	0	1	0	26	46					T	156214	A	T	156214	3	4	291	1	0	0	0	0	1	0	0	0	12072	304	11	5	1199	5	PLEKHG4B	5	156214	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		156214	180759046	2	5119											
PCDHA10	56139	broad.mit.edu	37	5	140237165	140237165	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:140237165C>T	ENST00000307360.5	+	1	1532	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A511V|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	511	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(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGCACGCGGAGAGCGGC	0.701																																						uc003lhx.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1531-1533)gCg>gTg		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							66	73	71					5																	140237165		2196	4274	6470	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140237165C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1532C>T	5.37:g.140237165C>T	ENSP00000304234:p.Ala511Val		Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A511V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A511V	p.A511V	NM_018901	NP_061724	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1532	+			526			Cadherin 5.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1532C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941737	0.53079	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61627	0.09;0.64	3.63	2.72	0.32119	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67878	0.2940	L	0.45698	1.435	0.21579	N	0.999634	D;D;D	0.69078	0.997;0.992;0.988	D;P;P	0.67725	0.953;0.819;0.815	T	0.59643	-0.7416	9	0.87932	D	0	.	13.082	0.59119	0.0:0.8373:0.1627:0.0	.	511;511;511	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	V	511	ENSP00000421030:A511V;ENSP00000304234:A511V	ENSP00000304234:A511V	A	+	2	0	PCDHA10	140217349	0.119000	0.22226	0.999000	0.59377	0.459000	0.32528	4.092000	0.57707	0.807000	0.34208	0.561000	0.74099	GCG		0.701	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		40	91	0	0	0	1	0	40	91					T	140237165	C	T	140237165	3	4	291	1	0	0	0	0	1	0	0	0	11520	768	27	1	1534	1	PCDHA10	5	140237165	Missense_Mutation	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08	140080951	140237165	40678095	3	5120											
TULP1	7287	broad.mit.edu	37	6	35473554	35473554	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:35473554A>G	ENST00000229771.6	-	11	1155	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	TULP1_ENST00000322263.4_Missense_Mutation_p.L306P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	359					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCGGGACAGATTGGTAGG	0.577																																					GBM(55;1027 1091 11115 23439)	uc003okv.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1075-1077)cTg>cCg		Homo sapiens tubby like protein 1 (TULP1), mRNA.							91	82	85					6																	35473554		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35473554A>G	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1076T>C	6.37:g.35473554A>G	ENSP00000229771:p.Leu359Pro		Somatic				TULP1_uc003okw.4_Missense_Mutation_p.L306P|TULP1_uc021yyx.1_Missense_Mutation_p.L359P|TULP1_uc021yyy.1_Missense_Mutation_p.L358P	p.L359P	NM_003322	NP_003313	WXS	Illumina GAIIx	Phase_I	O00294	TULP1_HUMAN			10	1088	-			359					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.1076T>C	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757216	0.69648	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.97529	-4.42;-4.42	4.4	4.4	0.53042	Tubby, C-terminal (4);	0.082541	0.50627	D	0.000114	D	0.98988	0.9655	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99278	1.0895	10	0.87932	D	0	-3.0983	13.8182	0.63306	1.0:0.0:0.0:0.0	.	306;359	O00294-2;O00294	.;TULP1_HUMAN	P	359;306	ENSP00000229771:L359P;ENSP00000319414:L306P	ENSP00000229771:L359P	L	-	2	0	TULP1	35581532	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	9.079000	0.94032	1.861000	0.53984	0.402000	0.26972	CTG		0.577	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			24	26	0	0	0	1	0	24	26					G	35473554	A	G	35473554	3	3	291	1	0	0	0	0	1	0	0	0	16770	188	7	3	572	3	TULP1	6	35473554	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		35473554	135641513	4	5121											
PKHD1	5314	broad.mit.edu	37	6	51892687	51892687	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:51892687G>A	ENST00000371117.3	-	31	3843	c.3568C>T	c.(3568-3570)Ctc>Ttc	p.L1190F	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1190F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1190	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGATGTGGAGATCAACCCTA	0.443																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3568-3570)Ctc>Ttc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							72	71	71					6																	51892687		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51892687G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3568C>T	6.37:g.51892687G>A	ENSP00000360158:p.Leu1190Phe		Somatic				PKHD1_uc003pai.3_Missense_Mutation_p.L1190F	p.L1190F	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			30	3844	-	Lung NSC(77;0.0605)		1190			IPT/TIG 6; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3568C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710968	0.68730	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87650	-2.07;-2.28	5.71	4.84	0.62591	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.089544	0.48767	D	0.000172	D	0.89241	0.6659	M	0.69823	2.125	0.31280	N	0.690749	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.915	D	0.86203	0.1620	10	0.32370	T	0.25	.	13.8898	0.63731	0.0731:0.0:0.9269:0.0	.	1190;1190	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1190	ENSP00000360158:L1190F;ENSP00000341097:L1190F	ENSP00000341097:L1190F	L	-	1	0	PKHD1	52000646	0.998000	0.40836	0.981000	0.43875	0.932000	0.56968	2.960000	0.49161	1.408000	0.46895	0.655000	0.94253	CTC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	13	0	0	0	1	0	17	13					A	51892687	G	A	51892687	3	1	291	1	0	0	0	0	1	0	0	0	11971	942	33	2	8843	2	PKHD1	6	51892687	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	16419133	51892687	119222380	5	5122											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	53	0	0	0	1	0	23	53					T	140453136	A	T	140453136	3	4	291	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		140453136	18685527	6	5123											
KIAA0649	9858	broad.mit.edu	37	9	138379139	138379139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr9:138379139C>T	ENST00000356818.2	+	4	3332	c.2783C>T	c.(2782-2784)cCt>cTt	p.P928L	PPP1R26_ENST00000605660.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P928L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	928					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AAGGGGCTCCCTGCTGCTCCT	0.672																																						uc004cfr.1																			0											c.(2782-2784)cCt>cTt		Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.							29	36	34					9																	138379139		2010	3940	5950	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379139C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2783C>T	9.37:g.138379139C>T	ENSP00000349274:p.Pro928Leu		Somatic				PPP1R26_uc022bpi.1_Missense_Mutation_p.P928L	p.P928L	NM_014811	NP_055626	WXS	Illumina GAIIx	Phase_I	Q5T8A7	K0649_HUMAN			3	3332	+			928					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2783C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	9.863	1.196912	0.22037	.	.	ENSG00000196422	ENST00000356818	T	0.12039	2.72	5.01	2.93	0.34026	.	0.978768	0.08376	N	0.955239	T	0.14917	0.0360	L	0.29908	0.895	0.09310	N	1	P	0.46512	0.879	P	0.45377	0.478	T	0.27262	-1.0079	10	0.52906	T	0.07	-4.9793	11.3355	0.49500	0.3798:0.6202:0.0:0.0	.	928	Q5T8A7	PPR26_HUMAN	L	928	ENSP00000349274:P928L	ENSP00000349274:P928L	P	+	2	0	KIAA0649	137518960	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.409000	0.21082	1.078000	0.41014	0.462000	0.41574	CCT		0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		10	64	0	0	0	1	0	10	64					T	138379139	C	T	138379139	3	4	291	1	0	0	0	0	1	0	0	0	8187	681	24	2	2785	2	KIAA0649	9	138379139	Missense_Mutation	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08		138379139	2834292	7	5124											
RGR	5995	broad.mit.edu	37	10	86014089	86014089	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr10:86014089A>T	ENST00000359452.4	+	5	570	c.532A>T	c.(532-534)Acc>Tcc	p.T178S	RGR_ENST00000358110.5_Missense_Mutation_p.T174S	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	174					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TAGAAACTTCACCAGCTTCCT	0.552																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdd.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(532-534)Acc>Tcc		Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.							207	177	187					10																	86014089		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86014089A>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"GPCR / Class A : Opsin receptors"	9990	protein-coding gene	gene with protein product	"RGR-opsin"	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.532A>T	10.37:g.86014089A>T	ENSP00000352427:p.Thr178Ser		Somatic				RGR_uc001kdc.1_Missense_Mutation_p.T174S|RGR_uc001kde.1_Missense_Mutation_p.T174S	p.T178S	NM_002921	NP_002912	WXS	Illumina GAIIx	Phase_I	P47804	RGR_HUMAN			4	570	+			174					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000359452.4	37	c.532A>T	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810036	0.50421	.	.	ENSG00000148604	ENST00000359452;ENST00000358110	T;T	0.36878	1.23;1.23	4.87	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.354367	0.32357	N	0.006204	T	0.31979	0.0814	L	0.43152	1.355	0.23997	N	0.996224	B;P;B	0.43633	0.001;0.813;0.004	B;P;B	0.44447	0.026;0.45;0.02	T	0.08911	-1.0699	10	0.23891	T	0.37	.	9.8976	0.41329	0.916:0.0:0.084:0.0	.	174;178;174	P47804-3;P47804-2;P47804	.;.;RGR_HUMAN	S	178;174	ENSP00000352427:T178S;ENSP00000350823:T174S	ENSP00000350823:T174S	T	+	1	0	RGR	86004069	1.000000	0.71417	0.997000	0.53966	0.647000	0.38526	2.599000	0.46231	0.973000	0.38340	0.459000	0.35465	ACC		0.552	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		32	45	0	0	0	1	0	32	45					T	86014089	A	T	86014089	3	4	291	1	0	0	0	0	1	0	0	0	13291	159	6	5	550	5	RGR	10	86014089	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		86014089	49520658	8	5125											
LRFN4	78999	broad.mit.edu	37	11	66626537	66626537	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:66626537G>A	ENST00000309602.4	+	1	1565	c.1322G>A	c.(1321-1323)aGc>aAc	p.S441N	PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	441	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CAGTACAACAGCAGCGAAGAT	0.662																																						uc001ojr.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(1321-1323)aGc>aAc		Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.							65	66	66					11																	66626537		2196	4283	6479	SO:0001583	missense	78999					integral to membrane		g.chr11:66626537G>A	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1322G>A	11.37:g.66626537G>A	ENSP00000312535:p.Ser441Asn		Somatic				PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	p.S441N	NM_024036	NP_076941	WXS	Illumina GAIIx	Phase_I	Q6PJG9	LRFN4_HUMAN			0	1662	+			441			Fibronectin type-III.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1322G>A	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047842	0.75846	.	.	ENSG00000173621	ENST00000309602	T	0.57436	0.4	4.26	4.26	0.50523	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.61912	0.2385	L	0.55213	1.73	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	T	0.57183	-0.7855	10	0.07990	T	0.79	.	14.2032	0.65719	0.0:0.0:1.0:0.0	.	441	Q6PJG9	LRFN4_HUMAN	N	441	ENSP00000312535:S441N	ENSP00000312535:S441N	S	+	2	0	LRFN4	66383113	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.330000	0.96422	2.214000	0.71695	0.462000	0.41574	AGC		0.662	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		30	60	0	0	0	1	0	30	60					A	66626537	G	A	66626537	3	1	291	1	0	0	0	0	1	0	0	0	8940	971	34	2	1324	2	LRFN4	11	66626537	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		66626537	68379979	9	5126											
PCSK7	9159	broad.mit.edu	37	11	117094847	117094847	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:117094847T>C	ENST00000320934.3	-	8	1631	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	334	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)		GCAGTTGTCGTTGTGTTGGCC	0.547			T	IGH@	MLCLS																																	uc001pqr.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1000-1002)aAc>aGc		Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.							316	235	263					11																	117094847		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117094847T>C	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1001A>G	11.37:g.117094847T>C	ENSP00000325917:p.Asn334Ser		Somatic					p.N334S	NM_004716	NP_004707	WXS	Illumina GAIIx	Phase_I	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	7	1202	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	334			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1001A>G	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633579	0.47049	.	.	ENSG00000160613	ENST00000320934;ENST00000543900	D	0.87179	-2.22	5.6	4.48	0.54585	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.136637	0.64402	D	0.000003	T	0.76652	0.4017	N	0.20766	0.605	0.80722	D	1	B	0.23128	0.08	B	0.27887	0.084	T	0.72171	-0.4371	10	0.40728	T	0.16	-35.6846	7.2091	0.25923	0.0:0.2198:0.0:0.7802	.	334	Q16549	PCSK7_HUMAN	S	334	ENSP00000325917:N334S	ENSP00000325917:N334S	N	-	2	0	PCSK7	116600057	0.907000	0.30839	1.000000	0.80357	0.912000	0.54170	1.387000	0.34430	2.120000	0.65058	0.533000	0.62120	AAC		0.547	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		4	56	0	0	0	1	0	4	56					C	117094847	T	C	117094847	3	2	291	1	0	0	0	0	1	0	0	0	11605	1725	60	3	1396	3	PCSK7	11	117094847	Missense_Mutation	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	50468310	117094847	17911669	10	5127											
CEP152	22995	broad.mit.edu	37	15	49081163	49081163	+	Silent	SNP	C	C	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr15:49081163C>A	ENST00000380950.2	-	9	1195	c.1008G>T	c.(1006-1008)ctG>ctT	p.L336L	CEP152_ENST00000325747.5_Silent_p.L243L|CEP152_ENST00000399334.3_Silent_p.L336L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	336					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)		TCAAGCTTTCCAGAGCCATTT	0.413																																						uc001zwz.3																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1006-1008)ctG>ctT		Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.							140	127	131					15																	49081163		1907	4126	6033	SO:0001819	synonymous_variant	22995				G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding	g.chr15:49081163C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1008G>T	15.37:g.49081163C>A			Somatic				CEP152_uc001zwy.3_Silent_p.L336L|CEP152_uc001zxa.2_Silent_p.L243L	p.L336L	NM_001194998	NP_001181927	WXS	Illumina GAIIx	Phase_I	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	8	1201	-		all_lung(180;0.0428)	336					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.1008G>T	CCDS58361.1																																																																																				0.413	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		33	62	0	0	0	1	0	33	62					A	49081163	C	A	49081163	2	1	291	1	0	0	0	0	0	0	0	1	3248	581	21	4		4	CEP152	15	49081163	Silent	SNP	C	TCGA-EM-A4FM-01A-11D-A257-08		49081163	53450229	11	5128											
SETD1A	9739	broad.mit.edu	37	16	30991489	30991489	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:30991489A>G	ENST00000262519.8	+	14	5068	c.4382A>G	c.(4381-4383)aAc>aGc	p.N1461S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1461	Interaction with ASH2L, RBBP5 and WDR5.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GACTGGCTCAACGACACTCAC	0.612																																						uc002ead.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(4381-4383)aAc>aGc		Homo sapiens SET domain containing 1A (SETD1A), mRNA.							39	43	41					16																	30991489		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	g.chr16:30991489A>G	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4382A>G	16.37:g.30991489A>G	ENSP00000262519:p.Asn1461Ser		Somatic					p.N1461S	NM_014712	NP_055527	WXS	Illumina GAIIx	Phase_I	O15047	SET1A_HUMAN			13	5068	+			1461			Interaction with ASH2L, RBBP5 and WDR5.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4382A>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009901	0.35415	.	.	ENSG00000099381	ENST00000262519	D	0.95447	-3.71	4.08	4.08	0.47627	COMPASS complex Set1 subunit, N-SET domain (1);	0.116424	0.53938	D	0.000041	D	0.94235	0.8149	M	0.66939	2.045	0.58432	D	0.999997	P	0.35328	0.495	B	0.38616	0.277	D	0.93907	0.7193	10	0.52906	T	0.07	.	12.1659	0.54129	1.0:0.0:0.0:0.0	.	1461	O15047	SET1A_HUMAN	S	1461	ENSP00000262519:N1461S	ENSP00000262519:N1461S	N	+	2	0	SETD1A	30898990	1.000000	0.71417	0.078000	0.20375	0.905000	0.53344	9.017000	0.93651	1.713000	0.51359	0.379000	0.24179	AAC		0.612	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		9	18	0	0	0	1	0	9	18					G	30991489	A	G	30991489	3	3	291	1	0	0	0	0	1	0	0	0	14130	43	2	3	4432	3	SETD1A	16	30991489	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		30991489	59363264	12	5129											
CDYL2	124359	broad.mit.edu	37	16	80638351	80638351	+	Silent	SNP	G	G	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:80638351G>C	ENST00000570137.2	-	7	1610	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	CDYL2_ENST00000562812.1_Silent_p.L486L|CDYL2_ENST00000566173.1_Silent_p.L486L|CDYL2_ENST00000563890.1_Silent_p.L486L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	485						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGAGCTCCAGAGCTGCTTGA	0.547																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(1453-1455)ctC>ctG		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.							133	126	128					16																	80638351		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80638351G>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1455C>G	16.37:g.80638351G>C			Somatic					p.L485L	NM_152342	NP_689555	WXS	Illumina GAIIx	Phase_I	Q8N8U2	CDYL2_HUMAN			6	1560	-			485					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.1455C>G	CCDS32493.1																																																																																				0.547	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		38	85	0	0	0	1	0	38	85					C	80638351	G	C	80638351	2	2	291	1	0	0	0	0	0	0	0	1	3186	929	33	4		4	CDYL2	16	80638351	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	49646862	80638351	9716402	13	5130											
MYH2	4620	broad.mit.edu	37	17	10443979	10443979	+	Missense_Mutation	SNP	G	G	C	rs138162020		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:10443979G>C	ENST00000245503.5	-	11	1324	c.940C>G	c.(940-942)Cca>Gca	p.P314A	MYH2_ENST00000397183.2_Missense_Mutation_p.P314A|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.P314A|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	314	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P314S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGACAAATGGGTAATCATAT	0.363																																						uc010coi.3																			1	Substitution - Missense(1)	p.P314S(2)	skin(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(940-942)Cca>Gca		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							103	94	97					17																	10443979		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443979G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.940C>G	17.37:g.10443979G>C	ENSP00000245503:p.Pro314Ala		Somatic				AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P314A|MYH2_uc010coj.3_Missense_Mutation_p.P314A	p.P314A	NM_001100112	NP_060004	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			10	1068	-			314			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.940C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347697	0.11126	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.85702	-2.02;-2.02;-2.02	5.25	4.27	0.50696	Myosin head, motor domain (2);	0.524332	0.14333	U	0.326202	T	0.73337	0.3574	N	0.16166	0.38	0.35393	D	0.790949	B;B	0.02656	0.0;0.0	B;B	0.13407	0.001;0.009	T	0.68591	-0.5368	10	0.11794	T	0.64	.	14.8469	0.70267	0.0:0.16:0.84:0.0	.	314;314	Q567P6;Q9UKX2	.;MYH2_HUMAN	A	314	ENSP00000433944:P314A;ENSP00000245503:P314A;ENSP00000380367:P314A	ENSP00000245503:P314A	P	-	1	0	MYH2	10384704	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	1.358000	0.34102	1.418000	0.47098	0.650000	0.86243	CCA		0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		8	44	0	0	0	1	0	8	44					C	10443979	G	C	10443979	3	2	291	1	0	0	0	0	1	0	0	0	10035	1232	43	4	5005	4	MYH2	17	10443979	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		10443979	70751231	14	5131											
TEX2	55852	broad.mit.edu	37	17	62265588	62265588	+	Silent	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:62265588G>A	ENST00000583097.1	-	5	2536	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	TEX2_ENST00000584379.1_Silent_p.S788S|TEX2_ENST00000258991.3_Silent_p.S795S			Q8IWB9	TEX2_HUMAN	testis expressed 2	788					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGGCTTCGGCTTTCCTGGG	0.602																																						uc002jed.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2383-2385)agC>agT		Homo sapiens testis expressed 2 (TEX2), mRNA.							59	59	59					17																	62265588		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62265588G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2364C>T	17.37:g.62265588G>A			Somatic				TEX2_uc002jec.3_Silent_p.S788S|TEX2_uc002jee.3_Silent_p.S788S	p.S795S	NM_018469	NP_060939	WXS	Illumina GAIIx	Phase_I	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	4	2536	-			788					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2385C>T																																																																																					0.602	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		32	51	0	0	0	1	0	32	51					A	62265588	G	A	62265588	2	1	291	1	0	0	0	0	0	0	0	1	15778	1194	42	2		2	TEX2	17	62265588	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	51821609	62265588	18929622	15	5132											
RNF213	57674	broad.mit.edu	37	17	78343413	78343413	+	Silent	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:78343413T>C	ENST00000582970.1	+	45	12410	c.12267T>C	c.(12265-12267)atT>atC	p.I4089I	RNF213_ENST00000508628.2_Silent_p.I4138I|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2162I|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4089					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)			AGGAAGTGATTGAGAGCCTGC	0.517																																						uc002jyh.2																			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.(12412-12414)atT>atC		SubName: Full=Uncharacterized protein;							98	91	93					17																	78343413		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78343413T>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12267T>C	17.37:g.78343413T>C			Somatic				RNF213_uc021uen.1_Silent_p.I4089I|LOC100294362_uc002jyi.2_Intron	p.I4138I	NM_020914	NP_065965	WXS	Illumina GAIIx	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		45	12557	+	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.12414T>C	CCDS58606.1																																																																																				0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		31	57	0	0	0	1	0	31	57					C	78343413	T	C	78343413	2	2	291	1	0	0	0	0	0	0	0	1	13477	1800	63	3		3	RNF213	17	78343413	Silent	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	16077825	78343413	2851797	16	5133											
SHANK1	50944	broad.mit.edu	37	19	51189611	51189611	+	Splice_Site	SNP	G	G	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr19:51189611G>T	ENST00000293441.1	-	20	2478	c.2460C>A	c.(2458-2460)aaC>aaA	p.N820K	SHANK1_ENST00000359082.3_Splice_Site_p.N811K|SHANK1_ENST00000391813.1_Splice_Site_p.N207K|SHANK1_ENST00000391814.1_Splice_Site_p.N828K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	820					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)		CGTCCAGTTTGTCTAGGGGTA	0.572																																						uc002psx.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.e20-1		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							109	95	100					19																	51189611		2203	4300	6503	SO:0001630	splice_region_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51189611G>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2459-1C>A	19.37:g.51189611G>T			Somatic				SHANK1_uc002psw.1_Splice_Site_p.N204_splice	p.N820_splice	NM_016148	NP_057232	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	20	2478	-		all_neural(266;0.057)	820					A8MXP5|B7WNY6|Q9NYW9	Splice_Site	SNP	ENST00000293441.1	37	c.2459_splice	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782614	0.31502	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	3.91	3.91	0.45181	.	0.427573	0.19891	U	0.103735	T	0.42359	0.1199	L	0.38531	1.155	0.45076	D	0.998092	D;P	0.59357	0.985;0.955	P;P	0.53518	0.728;0.636	T	0.22521	-1.0214	10	0.46703	T	0.11	.	9.1034	0.36683	0.1047:0.0:0.8953:0.0	.	820;207	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	K	820;207;811;828	ENSP00000293441:N820K;ENSP00000375689:N207K;ENSP00000351984:N811K;ENSP00000375690:N828K	ENSP00000293441:N820K	N	-	3	2	SHANK1	55881423	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.044000	0.57361	2.211000	0.71520	0.478000	0.44815	AAC		0.572	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	Missense_Mutation	21	47	0	0	0	1	0	21	47					T	51189611	G	T	51189611	5	4	291	1	0	0	0	0	0	0	1	0	14264	1391	48	4	4041	4	SHANK1	19	51189611	Splice_Site	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		51189611	7939372	17	5134											
TRPM2	7226	broad.mit.edu	37	21	45837906	45837906	+	Silent	SNP	G	G	A	rs376722041		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:45837906G>A	ENST00000397928.1	+	21	3688	c.3243G>A	c.(3241-3243)ccG>ccA	p.P1081P	TRPM2_ENST00000300482.5_Silent_p.P1081P|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300481.9_Silent_p.P1061P|TRPM2_ENST00000397932.2_Silent_p.P1081P|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1081					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						ccgccgcgccgccccccTTCA	0.627																																						uc010gpt.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.(3241-3243)ccG>ccA		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.		A		1,4405	2.1+/-5.4	0,1,2202	51	52	52		3243	-8.7	0.1	21		52	0,8600		0,0,4300	no	coding-synonymous	TRPM2	NM_003307.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1081/1504	45837906	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837906G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3243G>A	21.37:g.45837906G>A			Somatic				TRPM2_uc002zet.1_Silent_p.P1081P|TRPM2_uc002zeu.1_Silent_p.P1081P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P1081P|TRPM2_uc002zex.1_Silent_p.P867P|TRPM2_uc002zey.1_Silent_p.P594P|TRPM2_uc011afe.2_Intron	p.P1081P	NM_003307	NP_003298	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			20	3343	+			1081					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.3243G>A	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		23	45	0	0	0	1	0	23	45					A	45837906	G	A	45837906	2	1	291	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRPM2	21	45837906	Silent	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08		45837906	2291989	18	5135											
DCAF8L1	139425	broad.mit.edu	37	X	27998790	27998790	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:27998790A>G	ENST00000441525.1	-	1	776	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	221										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCACACTATCACCCTTAA	0.502																																						uc004dbx.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(661-663)aTa>aCa		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							48	39	42					X																	27998790		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998790A>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"WD repeat domain containing"	31810	protein-coding gene	gene with protein product			"WD repeat domain 42B"	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.662T>C	X.37:g.27998790A>G	ENSP00000405222:p.Ile221Thr		Somatic					p.I221T	NM_001017930	NP_001017930	WXS	Illumina GAIIx	Phase_I	A6NGE4	DC8L1_HUMAN			0	777	-			221					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.662T>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298201	0.23650	.	.	ENSG00000226372	ENST00000441525	T	0.60040	0.22	0.842	-0.79	0.10932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.372367	0.24085	N	0.041692	T	0.46073	0.1374	M	0.72894	2.215	0.28712	N	0.903508	B	0.16166	0.016	B	0.21360	0.034	T	0.35475	-0.9787	10	0.13853	T	0.58	-2.4346	4.7526	0.13068	0.6829:0.3171:0.0:0.0	.	221	A6NGE4	DC8L1_HUMAN	T	221	ENSP00000405222:I221T	ENSP00000405222:I221T	I	-	2	0	DCAF8L1	27908711	1.000000	0.71417	0.544000	0.28141	0.457000	0.32468	2.720000	0.47252	-0.292000	0.08999	-1.042000	0.02369	ATA		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		10	39	0	0	0	1	0	10	39					G	27998790	A	G	27998790	3	3	291	1	0	0	0	0	1	0	0	0	4277	449	16	3	1144	3	DCAF8L1	23	27998790	Missense_Mutation	SNP	A	TCGA-EM-A4FM-01A-11D-A257-08		27998790	127271770	19	5136											
USP9X	8239	broad.mit.edu	37	X	41058005	41058005	+	Splice_Site	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:41058005T>C	ENST00000324545.8	+	30	5236		c.e30+2		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAATAACTAGTAAGTATTTTT	0.294																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e30+2		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							30	29	29					X																	41058005		2117	4241	6358	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41058005T>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4603+2T>C	X.37:g.41058005T>C			Somatic				USP9X_uc004dfc.3_Splice_Site_p.T1535_splice	p.T1535_splice	NM_001039590	NP_001034679	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			30	5236	+			1535					O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37	c.4603_splice	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193640	0.58017	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8864	0.63710	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40942949	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.077000	0.57598	1.724000	0.51502	0.441000	0.28932	.		0.294	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	10	16	0	0	0	1	0	10	16					C	41058005	T	C	41058005	5	2	291	1	0	0	0	0	0	0	1	0	17087	1652	57	3	4719	3	USP9X	23	41058005	Splice_Site	SNP	T	TCGA-EM-A4FM-01A-11D-A257-08	13059215	41058005	114212555	20	5137											
IL2RG	3561	broad.mit.edu	37	X	70327615	70327615	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:70327615G>A	ENST00000374202.2	-	8	1172	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Missense_Mutation_p.P90S|IL2RG_ENST00000456850.2_Missense_Mutation_p.P171S	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTGTAACATGGGGGGGCCCAG	0.577									Severe Combined Immunodeficiency, X-linked																													uc004dyw.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)Cca>Tca		Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						33	33	33					X																	70327615		2203	4293	6496	SO:0001583	missense	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327615G>A	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6010	protein-coding gene	gene with protein product		308380	"severe combined immunodeficiency", "combined immunodeficiency, X-linked"	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1081C>T	X.37:g.70327615G>A	ENSP00000363318:p.Pro361Ser		Somatic				CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Missense_Mutation_p.P90S|IL2RG_uc004dyx.2_Missense_Mutation_p.P171S	p.P361S	NM_000206	NP_000197	WXS	Illumina GAIIx	Phase_I	P31785	IL2RG_HUMAN			7	1173	-	Renal(35;0.156)		361					Q5FC12	Missense_Mutation	SNP	ENST00000374202.2	37	c.1081C>T	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445107	0.43429	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.98937	-4.63;-5.25;-2.24	4.24	4.24	0.50183	.	1.453280	0.04433	N	0.369596	D	0.98912	0.9631	L	0.57536	1.79	0.27396	N	0.954998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.996	D	0.93950	0.7231	10	0.87932	D	0	-8.7593	10.933	0.47228	0.0:0.0:1.0:0.0	.	171;361;90	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	S	361;171;90	ENSP00000363318:P361S;ENSP00000388967:P171S;ENSP00000363303:P90S	ENSP00000363303:P90S	P	-	1	0	IL2RG	70244340	0.998000	0.40836	0.612000	0.29024	0.115000	0.19883	4.322000	0.59215	1.948000	0.56530	0.417000	0.27973	CCA		0.577	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			9	19	0	0	0	1	0	9	19					A	70327615	G	A	70327615	3	1	291	1	0	0	0	0	1	0	0	0	7688	1232	43	2	32	2	IL2RG	23	70327615	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	29269610	70327615	84942945	21	5138											
MAGEA11	4110	broad.mit.edu	37	X	148798323	148798323	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:148798323G>A	ENST00000355220.5	+	5	1279	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E364K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	393	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCCCACGCTGAGACCAGCAA	0.532																																						uc004fdq.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1177-1179)Gag>Aag		Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.							156	132	140					X																	148798323		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798323G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1177G>A	X.37:g.148798323G>A	ENSP00000347358:p.Glu393Lys		Somatic				MAGEA11_uc004fdr.3_Missense_Mutation_p.E364K	p.E393K	NM_005366	NP_005357	WXS	Illumina GAIIx	Phase_I	P43364	MAGAB_HUMAN			4	1332	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		393			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1177G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	16.87	3.242963	0.58995	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.25912	1.77;1.77	0.976	0.976	0.19727	.	.	.	.	.	T	0.56499	0.1989	H	0.95437	3.67	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40117	-0.9580	8	.	.	.	.	4.9662	0.14091	0.0:0.0:1.0:0.0	.	364;393	G5E962;P43364	.;MAGAB_HUMAN	K	364;393	ENSP00000328177:E364K;ENSP00000347358:E393K	.	E	+	1	0	MAGEA11	148576082	0.197000	0.23362	0.075000	0.20258	0.633000	0.38033	2.153000	0.42282	0.761000	0.33130	0.429000	0.28392	GAG		0.532	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		81	146	0	0	0	1	0	81	146					A	148798323	G	A	148798323	3	1	291	1	0	0	0	0	1	0	0	0	9165	1291	45	2	1204	2	MAGEA11	23	148798323	Missense_Mutation	SNP	G	TCGA-EM-A4FM-01A-11D-A257-08	78470708	148798323	6472237	22	5139											
ATP1A2	477	broad.mit.edu	37	1	160109744	160109744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160109744C>T	ENST00000361216.3	+	22	3093	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R991*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1002					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1002R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGATGAGGTCCGAAAGCTCAT	0.582																																						uc001fvc.3																			1	Substitution - coding silent(1)	p.R1002R(3)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(3004-3006)Cga>Tga		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							141	126	131					1																	160109744		2203	4300	6503	SO:0001587	stop_gained	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109744C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3004C>T	1.37:g.160109744C>T	ENSP00000354490:p.Arg1002*		Somatic				ATP1A2_uc001fvd.3_Nonsense_Mutation_p.R721*	p.R1002*	NM_000702	NP_000693	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		21	3136	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1002					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Nonsense_Mutation	SNP	ENST00000361216.3	37	c.3004C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	42	9.427856	0.99167	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.942	0.41587	0.2027:0.7973:0.0:0.0	.	.	.	.	X	1002;991;705	.	ENSP00000354490:R1002X	R	+	1	2	ATP1A2	158376368	0.965000	0.33210	0.995000	0.50966	0.982000	0.71751	0.734000	0.26101	2.420000	0.82092	0.655000	0.94253	CGA		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	69	0	0	0	1	0	10	69					T	160109744	C	T	160109744	4	4	292	1	0	0	0	0	0	1	0	0	1129	644	23	1	3090	1	ATP1A2	1	160109744	Nonsense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		160109744	89140877	1	5140											
CD84	8832	broad.mit.edu	37	1	160523156	160523156	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160523156G>A	ENST00000311224.4	-	4	838	c.772C>T	c.(772-774)Cca>Tca	p.P258S	CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368048.3_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Intron|CD84_ENST00000368051.3_Intron	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	258					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCTTCTGGGAAAATCCTA	0.458																																						uc001fwh.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(772-774)Cca>Tca		Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.							69	70	70					1																	160523156		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523156G>A	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.772C>T	1.37:g.160523156G>A	ENSP00000312367:p.Pro258Ser		Somatic				CD84_uc001fwf.4_Intron|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Intron|CD84_uc001fwj.3_Missense_Mutation_p.P258S	p.P258S	NM_001184879	NP_001171808	WXS	Illumina GAIIx	Phase_I	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	851	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		258					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.772C>T	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835603	0.16820	.	.	ENSG00000066294	ENST00000311224;ENST00000360056	T;T	0.62364	0.4;0.03	4.93	-0.841	0.10752	.	10.138400	0.00166	N	0.000000	T	0.13713	0.0332	N	0.11201	0.11	0.18873	N	0.999982	B;B	0.19331	0.035;0.02	B;B	0.16289	0.015;0.007	T	0.06006	-1.0851	10	0.07644	T	0.81	1.6819	3.8887	0.09110	0.4095:0.0:0.4302:0.1603	.	258;258	Q9UIB8-4;Q9UIB8	.;SLAF5_HUMAN	S	258	ENSP00000312367:P258S;ENSP00000353163:P258S	ENSP00000312367:P258S	P	-	1	0	CD84	158789780	0.003000	0.15002	0.064000	0.19789	0.819000	0.46315	0.164000	0.16542	-0.226000	0.09899	-0.142000	0.14014	CCA		0.458	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		7	37	0	0	0	1	0	7	37					A	160523156	G	A	160523156	3	1	292	1	0	0	0	0	1	0	0	0	3042	1232	43	2	285	2	CD84	1	160523156	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08	413412	160523156	88727465	2	5141											
ACOXL	55289	broad.mit.edu	37	2	111556600	111556600	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr2:111556600G>C	ENST00000389811.4	+	7	694	c.470G>C	c.(469-471)tGt>tCt	p.C157S	ACOXL_ENST00000340561.4_Missense_Mutation_p.C157S|ACOXL_ENST00000439055.1_Missense_Mutation_p.C157S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	157					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGCCCCACTGTTTCATCGTT	0.463																																						uc010yxk.1																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(469-471)tGt>tCt		Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.							142	123	129					2																	111556600		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111556600G>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.470G>C	2.37:g.111556600G>C	ENSP00000374461:p.Cys157Ser		Somatic				ACOXL_uc021vmm.1_5'UTR|ACOXL_uc021vmn.1_5'UTR	p.C157S	NM_001142807	NP_001136279	WXS	Illumina GAIIx	Phase_I	Q9NUZ1	ACOXL_HUMAN			6	694	+			157					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.470G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376765|3.376765	0.61735|0.61735	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561|ENST00000422487	D;D;D|.	0.98849|.	-5.18;-5.18;-5.18|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.33093|0.33093	0.98|0.98	0.49213|0.49213	D|D	0.999761|0.999761	P;P;B|.	0.51933|.	0.915;0.949;0.431|.	B;P;B|.	0.45610|.	0.292;0.487;0.269|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|6	0.52906|0.06625	T|T	0.07|0.88	-11.6428|-11.6428	16.9167|16.9167	0.86153|0.86153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	157;157;157|.	E9PB20;Q9NUZ1-2;Q9NUZ1|.	.;.;ACOXL_HUMAN|.	S|L	157|9	ENSP00000374461:C157S;ENSP00000407761:C157S;ENSP00000343717:C157S|.	ENSP00000343717:C157S|ENSP00000404255:V9L	C|V	+|+	2|1	0|0	ACOXL|ACOXL	111273071|111273071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.987000|5.987000	0.70571|0.70571	2.665000|2.665000	0.90641|0.90641	0.650000|0.650000	0.86243|0.86243	TGT|GTT		0.463	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		13	107	0	0	0	1	0	13	107					C	111556600	G	C	111556600	3	2	292	1	0	0	0	0	1	0	0	0	161	1377	48	4	492	4	ACOXL	2	111556600	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		111556600	131642773	3	5142											
ZFYVE28	57732	broad.mit.edu	37	4	2306946	2306946	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr4:2306946C>G	ENST00000290974.2	-	8	1460	c.1121G>C	c.(1120-1122)gGa>gCa	p.G374A	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G304A|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G344A|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	374					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCCTCCGCTCCTGGCCTGTG	0.667																																						uc003gex.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1120-1122)gGa>gCa		Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.							36	37	37					4																	2306946		2203	4297	6500	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306946C>G	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1121G>C	4.37:g.2306946C>G	ENSP00000290974:p.Gly374Ala		Somatic				ZFYVE28_uc011bvk.2_Missense_Mutation_p.G304A|ZFYVE28_uc011bvl.2_Missense_Mutation_p.G344A|ZFYVE28_uc003gew.2_Missense_Mutation_p.G260A	p.G374A	NM_020972	NP_001166130	WXS	Illumina GAIIx	Phase_I	Q9HCC9	LST2_HUMAN			7	1441	-			374					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1121G>C	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697428	0.30142	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58652	0.33;0.32;0.33	4.82	3.95	0.45737	.	0.222920	0.47093	N	0.000250	T	0.52008	0.1708	M	0.64997	1.995	0.25658	N	0.986038	B;P	0.48294	0.264;0.908	B;B	0.41860	0.066;0.368	T	0.52859	-0.8519	10	0.56958	D	0.05	.	7.8758	0.29592	0.0:0.7503:0.1644:0.0853	.	344;374	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	A	374;344;304	ENSP00000290974:G374A;ENSP00000425706:G344A;ENSP00000426299:G304A	ENSP00000290974:G374A	G	-	2	0	ZFYVE28	2276744	0.000000	0.05858	0.024000	0.17045	0.020000	0.10135	0.270000	0.18607	1.230000	0.43646	0.537000	0.68136	GGA		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		9	40	0	0	0	1	0	9	40					G	2306946	C	G	2306946	3	3	292	1	0	0	0	0	1	0	0	0	17667	855	30	4	1566	4	ZFYVE28	4	2306946	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		2306946	188847330	4	5143											
BCLAF1	9774	broad.mit.edu	37	6	136599357	136599357	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr6:136599357T>A	ENST00000531224.1	-	4	914	c.662A>T	c.(661-663)aAt>aTt	p.N221I	BCLAF1_ENST00000527759.1_Missense_Mutation_p.N219I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.N219I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.N219I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	221					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGGACTATTATCATAAGC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(661-663)aAt>aTt		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.							259	245	250					6																	136599357		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599357T>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.662A>T	6.37:g.136599357T>A	ENSP00000435210:p.Asn221Ile		Somatic				BCLAF1_uc003qgy.1_Missense_Mutation_p.N219I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.N219I|BCLAF1_uc003qgw.1_Missense_Mutation_p.N221I	p.N221I	NM_014739	NP_055554	WXS	Illumina GAIIx	Phase_I	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	915	-	Colorectal(23;0.24)		221					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.662A>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456451	0.63401	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	T	0.01697	-1.1293	10	0.56958	D	0.05	-21.6556	16.4461	0.83932	0.0:0.0:0.0:1.0	.	219;219;221;221	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	I	221;219;221;221;219;219;221	ENSP00000435210:N221I;ENSP00000229446:N219I;ENSP00000435441:N221I;ENSP00000436501:N221I;ENSP00000434826:N219I;ENSP00000376159:N219I;ENSP00000431734:N221I	ENSP00000229446:N219I	N	-	2	0	BCLAF1	136641050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.767000	0.68850	2.285000	0.76669	0.528000	0.53228	AAT		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	175	0	0	0	1	0	10	175					A	136599357	T	A	136599357	3	1	292	1	0	0	0	0	1	0	0	0	1383	1493	52	5	2140	5	BCLAF1	6	136599357	Missense_Mutation	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		136599357	34515710	5	5144											
STAG3L4	64940	broad.mit.edu	37	7	66774113	66774113	+	RNA	SNP	T	T	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:66774113T>C	ENST00000416602.2	+	0	554					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCTGTCACACTAGCACCCTGG	0.498																																						uc003tvt.4																			0				endometrium(2)|lung(5)	7						c.(277-279)acT>acC		Homo sapiens stromal antigen 3-like 4 (STAG3L4), transcript variant 2, non-coding RNA.							100	101	101					7																	66774113		2203	4300	6503			64940							g.chr7:66774113T>C			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"stromal antigen 3-like 4"				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774113T>C			Somatic				STAG3L4_uc010laj.3_Non-coding_Transcript	p.T93T			WXS	Illumina GAIIx	Phase_I	Q8TBR4	STG34_HUMAN			2	537	+		Lung NSC(55;0.0839)|all_lung(88;0.181)	93					Q9H8W0	Silent	SNP	ENST00000416602.2	37	c.279T>C																																																																																					0.498	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		13	69	0	0	0	1	0	13	69					C	66774113	T	C	66774113	1	2	292	0	1	0	0	0	0	0	0	0	15246	1509	53	3		3	STAG3L4	7	66774113	RNA	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		66774113	92364550	6	5145											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	63	0	0	0	1	0	16	63					T	140453136	A	T	140453136	3	4	292	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08	73679023	140453136	18685527	7	5146											
PTPRD	5789	broad.mit.edu	37	9	8375990	8375990	+	Missense_Mutation	SNP	C	C	T	rs142960593		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:8375990C>T	ENST00000381196.4	-	36	5150	c.4607G>A	c.(4606-4608)cGt>cAt	p.R1536H	PTPRD_ENST00000537002.1_Missense_Mutation_p.R1126H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1523H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1514H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1130H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1129H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1536H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1536H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1126H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1536	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)	p.R1536L(1)		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)		TTTGACTCTACGTAAGAAAGC	0.468										TSP Lung(15;0.13)																												uc003zkk.3																			1	Substitution - Missense(1)	p.R1536L(2)	lung(1)	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.(4606-4608)cGt>cAt		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	108	114		3377,3386,4607,3386,3389,3359	5.7	1.0	9	dbSNP_134	114	6,8592	5.0+/-18.6	0,6,4293	yes	missense,missense,missense,missense,missense,missense	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	29,29,29,29,29,29	0,7,6495	TT,TC,CC		0.0698,0.0227,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1126/1503,1129/1506,1536/1913,1129/1506,1130/1507,1120/1497	8375990	7,12997	2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8375990C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4607G>A	9.37:g.8375990C>T	ENSP00000370593:p.Arg1536His	TSP Lung(15;0.13)	Somatic				PTPRD_uc003zkp.3_Missense_Mutation_p.R1130H|PTPRD_uc003zkq.3_Missense_Mutation_p.R1129H|PTPRD_uc003zkr.3_Missense_Mutation_p.R1120H|PTPRD_uc003zks.3_Missense_Mutation_p.R1129H|PTPRD_uc022bdj.1_Missense_Mutation_p.R1126H	p.R1536H	NM_002839	NP_002830	WXS	Illumina GAIIx	Phase_I	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)	38	5350	-		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)	1536			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4607G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978672	0.92982	2.27E-4	6.98E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.996;0.999;0.999;0.999;0.994;0.998;0.999;1.0;0.999	P;D;D;D;P;P;P;D;P	0.74023	0.705;0.982;0.982;0.982;0.763;0.884;0.868;0.941;0.902	D	0.91826	0.5471	9	.	.	.	.	19.8352	0.96655	0.0:1.0:0.0:0.0	.	1129;1120;1129;1130;1126;1126;1523;1536;1536	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1536;1536;1523;1514;1130;1129;1126;1126;1007;1536;1129;1129	ENSP00000370593:R1536H;ENSP00000348812:R1536H;ENSP00000353187:R1523H;ENSP00000351293:R1514H;ENSP00000347373:R1130H;ENSP00000380741:R1129H;ENSP00000380735:R1126H;ENSP00000440515:R1126H;ENSP00000438164:R1536H;ENSP00000417093:R1129H;ENSP00000380731:R1129H	.	R	-	2	0	PTPRD	8365990	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.698000	0.92095	0.585000	0.79938	CGT		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			13	56	0	0	0	1	0	13	56					T	8375990	C	T	8375990	3	4	292	1	0	0	0	0	1	0	0	0	12799	536	19	1	1163	1	PTPRD	9	8375990	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		8375990	132837441	8	5147											
UBAP1	51271	broad.mit.edu	37	9	34241443	34241443	+	Silent	SNP	G	G	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:34241443G>A	ENST00000297661.4	+	4	655	c.420G>A	c.(418-420)acG>acA	p.T140T	UBAP1_ENST00000545103.1_Silent_p.T204T|UBAP1_ENST00000540348.1_Silent_p.T140T|UBAP1_ENST00000359544.2_Silent_p.T140T|UBAP1_ENST00000543944.1_Silent_p.T176T|UBAP1_ENST00000536252.1_Silent_p.T140T|UBAP1_ENST00000379186.4_Silent_p.T140T	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	140					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTAGTGCCACGAAACAGAAAG	0.478																																					NSCLC(109;1074 1634 14978 20375 39620)	uc011loj.2																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(610-612)acG>acA		Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 4, mRNA.							127	118	121					9																	34241443		2203	4300	6503	SO:0001819	synonymous_variant	51271					cytoplasm		g.chr9:34241443G>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.420G>A	9.37:g.34241443G>A			Somatic				UBAP1_uc010mka.2_Silent_p.T176T|UBAP1_uc022bfy.1_Silent_p.T140T|UBAP1_uc003zty.3_Silent_p.T140T|UBAP1_uc022bfz.1_Silent_p.T140T|UBAP1_uc003ztx.3_Silent_p.T140T|UBAP1_uc011loi.2_Silent_p.T176T|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Silent_p.T140T	p.T204T	NM_001171201	NP_001164672	WXS	Illumina GAIIx	Phase_I	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		2	622	+			140					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	ENST00000297661.4	37	c.612G>A	CCDS6550.1																																																																																				0.478	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			9	58	0	0	0	1	0	9	58					A	34241443	G	A	34241443	2	1	292	1	0	0	0	0	0	0	0	1	16833	1045	37	1		1	UBAP1	9	34241443	Silent	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08	25865453	34241443	106971988	9	5148											
RNF10	9921	broad.mit.edu	37	12	121001322	121001322	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr12:121001322A>G	ENST00000325954.4	+	9	1888	c.1427A>G	c.(1426-1428)aAt>aGt	p.N476S	RNF10_ENST00000413266.2_Missense_Mutation_p.N481S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	476					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGATGACAATCTTAAAGAG	0.527																																						uc001typ.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1426-1428)aAt>aGt		Homo sapiens ring finger protein 10 (RNF10), mRNA.							78	73	74					12																	121001322		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001322A>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1427A>G	12.37:g.121001322A>G	ENSP00000322242:p.Asn476Ser		Somatic				RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.N387S	p.N476S	NM_014868	NP_055683	WXS	Illumina GAIIx	Phase_I	Q8N5U6	RNF10_HUMAN			8	1910	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		476					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1427A>G	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	A	7.324	0.617544	0.14129	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T	0.39406	1.08;1.08	5.98	-4.23	0.03789	.	0.610401	0.18829	N	0.130004	T	0.16685	0.0401	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34850	-0.9812	10	0.06236	T	0.91	.	10.2854	0.43564	0.3484:0.12:0.5315:0.0	.	481;476	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	S	476;476;481;22	ENSP00000322242:N476S;ENSP00000415682:N481S	ENSP00000322242:N476S	N	+	2	0	RNF10	119485705	0.012000	0.17670	0.926000	0.36857	0.646000	0.38490	-0.256000	0.08757	-0.772000	0.04602	-0.263000	0.10527	AAT		0.527	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			11	41	0	0	0	1	0	11	41					G	121001322	A	G	121001322	3	3	292	1	0	0	0	0	1	0	0	0	13422	101	4	3	1461	3	RNF10	12	121001322	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08		121001322	12850573	10	5149											
DEGS2	123099	broad.mit.edu	37	14	100615601	100615601	+	Missense_Mutation	SNP	C	C	T	rs184833633	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr14:100615601C>T	ENST00000305631.5	-	2	1104	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				TTGGGGTGGACGCAGAGCGGC	0.667													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		16456	0		0	False		,,,				2504	0					uc001ygx.2																			0				breast(1)|lung(6)|skin(1)	8						c.(529-531)Gtc>Atc		Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.							37	41	39					14																	100615601		2203	4296	6499	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615601C>T		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.529G>A	14.37:g.100615601C>T	ENSP00000307126:p.Val177Ile		Somatic					p.V177I	NM_206918	NP_996801	WXS	Illumina GAIIx	Phase_I	Q6QHC5	DEGS2_HUMAN			1	617	-		Melanoma(154;0.212)	177						Missense_Mutation	SNP	ENST00000305631.5	37	c.529G>A	CCDS9956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.922	0.354217	0.11182	.	.	ENSG00000168350	ENST00000305631	T	0.16897	2.31	4.62	3.66	0.41972	Fatty acid desaturase, type 1 (1);	0.116848	0.56097	D	0.000022	T	0.09905	0.0243	N	0.13327	0.33	0.80722	D	1	P	0.51653	0.947	B	0.42851	0.4	T	0.14117	-1.0484	10	0.07990	T	0.79	-13.3503	14.5123	0.67797	0.1468:0.8532:0.0:0.0	.	177	Q6QHC5	DEGS2_HUMAN	I	177	ENSP00000307126:V177I	ENSP00000307126:V177I	V	-	1	0	DEGS2	99685354	1.000000	0.71417	0.959000	0.39883	0.043000	0.13939	4.845000	0.62853	2.273000	0.75805	0.561000	0.74099	GTC		0.667	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		10	32	0	0	0	1	0	10	32					T	100615601	C	T	100615601	3	4	292	1	0	0	0	0	1	0	0	0	4423	536	19	1	450	1	DEGS2	14	100615601	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		100615601	6733939	11	5150											
NETO1	81832	broad.mit.edu	37	18	70417314	70417314	+	Silent	SNP	G	G	A	rs144601570	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr18:70417314G>A	ENST00000327305.6	-	9	2181	c.1524C>T	c.(1522-1524)caC>caT	p.H508H	RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Silent_p.H507H|NETO1_ENST00000583169.1_Silent_p.H508H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	508					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CGGCTTTATCGTGTCTGGACA	0.438																																						uc002lkw.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1522-1524)caC>caT		Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.		G	,	0,4406		0,0,2203	93	81	85		1524,1524	2.6	1.0	18	dbSNP_134	85	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous,coding-synonymous	NETO1	NM_001201465.1,NM_138966.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	508/534,508/534	70417314	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417314G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1524C>T	18.37:g.70417314G>A			Somatic				NETO1_uc002lky.2_Silent_p.H508H	p.H508H	NM_001201465	NP_001188394	WXS	Illumina GAIIx	Phase_I	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	8	1808	-		Esophageal squamous(42;0.129)	508					Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1524C>T	CCDS12000.1																																																																																				0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		7	37	0	0	0	1	0	7	37					A	70417314	G	A	70417314	2	1	292	1	0	0	0	0	0	0	0	1	10339	1136	40	1		1	NETO1	18	70417314	Silent	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		70417314	7659934	12	5151											
BSG	682	broad.mit.edu	37	19	577919	577919	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr19:577919G>C	ENST00000333511.3	+	2	283	c.213G>C	c.(211-213)tgG>tgC	p.W71C	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	71					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCCAGCTCTGGGACGGCGCCC	0.687																																						uc002loz.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(211-213)tgG>tgC		Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.							29	27	28					19																	577919		2197	4295	6492	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:577919G>C	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.213G>C	19.37:g.577919G>C	ENSP00000333769:p.Trp71Cys		Somatic				BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002lpa.3_Intron|BSG_uc002lpc.3_5'Flank	p.W71C	NM_001728	NP_001719	WXS	Illumina GAIIx	Phase_I	P35613	BASI_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)	1	311	+		all_epithelial(18;2.78e-22)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	71					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.213G>C	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078425	0.55753	.	.	ENSG00000172270	ENST00000333511	T	0.02579	4.24	3.54	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.156815	0.44688	U	0.000433	T	0.13713	0.0332	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.02553	-1.1142	10	0.39692	T	0.17	-12.971	14.0078	0.64475	0.0:0.0:1.0:0.0	.	71	P35613	BASI_HUMAN	C	71	ENSP00000333769:W71C	ENSP00000333769:W71C	W	+	3	0	BSG	528919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	1.652000	0.50683	0.462000	0.41574	TGG		0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		4	13	0	0	0	1	0	4	13					C	577919	G	C	577919	3	2	292	1	0	0	0	0	1	0	0	0	1529	1241	43	4	255	4	BSG	19	577919	Missense_Mutation	SNP	G	TCGA-EM-A4FO-01A-11D-A257-08		577919	58551064	13	5152											
PLCB1	23236	broad.mit.edu	37	20	8639291	8639291	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:8639291C>A	ENST00000338037.6	+	9	829	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q268K|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q268K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	268					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCTCTAAAACAAGAGCAAGT	0.398																																						uc002wnb.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(802-804)Caa>Aaa		Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.							126	114	118					20																	8639291		2203	4300	6503	SO:0001583	missense	23236				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8639291C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.802C>A	20.37:g.8639291C>A	ENSP00000338185:p.Gln268Lys		Somatic				PLCB1_uc010zrb.1_Missense_Mutation_p.Q167K|PLCB1_uc002wna.3_Missense_Mutation_p.Q268K|PLCB1_uc002wnc.1_Missense_Mutation_p.Q167K	p.Q268K	NM_015192	NP_056007	WXS	Illumina GAIIx	Phase_I	Q9NQ66	PLCB1_HUMAN			8	805	+			268					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.802C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755109	0.49362	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.15952	2.38;2.38;2.38	5.95	5.95	0.96441	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.160135	0.56097	D	0.000029	T	0.11707	0.0285	N	0.12746	0.255	0.36542	D	0.871375	B;B	0.29988	0.005;0.264	B;B	0.26416	0.022;0.069	T	0.24333	-1.0163	10	0.17369	T	0.5	.	20.3921	0.98947	0.0:1.0:0.0:0.0	.	268;268	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	268;268;268;188;188	ENSP00000367908:Q268K;ENSP00000338185:Q268K;ENSP00000367904:Q268K	ENSP00000338185:Q268K	Q	+	1	0	PLCB1	8587291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.453000	0.44970	2.822000	0.97130	0.650000	0.86243	CAA		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			17	92	0	0	0	1	0	17	92					A	8639291	C	A	8639291	3	1	292	1	0	0	0	0	1	0	0	0	12027	479	17	4	836	4	PLCB1	20	8639291	Missense_Mutation	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08		8639291	54386229	14	5153											
ENTPD6	955	broad.mit.edu	37	20	25198164	25198164	+	Silent	SNP	C	C	T			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:25198164C>T	ENST00000376652.4	+	9	988	c.825C>T	c.(823-825)ggC>ggT	p.G275G	ENTPD6_ENST00000360031.2_Silent_p.G274G|ENTPD6_ENST00000433259.2_Silent_p.G275G|Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000354989.5_Silent_p.G258G			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	275					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCCACCCGGCTACCTGACGG	0.552																																						uc002wuj.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(823-825)ggC>ggT		Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.							98	95	96					20																	25198164		2203	4300	6503	SO:0001819	synonymous_variant	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25198164C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.825C>T	20.37:g.25198164C>T			Somatic				ENTPD6_uc010zsy.1_Silent_p.G275G|ENTPD6_uc010gdj.1_Silent_p.G247G|ENTPD6_uc002wum.2_Silent_p.G258G|ENTPD6_uc010zta.1_Silent_p.G275G|ENTPD6_uc002wuk.2_Silent_p.G274G|ENTPD6_uc002wul.2_Silent_p.G274G|ENTPD6_uc010ztb.1_Silent_p.G247G|ENTPD6_uc010ztc.1_Silent_p.G247G|ENTPD6_uc002wuo.2_Silent_p.G27G|ENTPD6_uc010zsz.1_Silent_p.G57G|ENTPD6_uc010ztd.1_Silent_p.G57G	p.G275G	NM_001247	NP_001238	WXS	Illumina GAIIx	Phase_I	O75354	ENTP6_HUMAN			8	1005	+			275					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.825C>T	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	c	0.310	-0.968236	0.02232	.	.	ENSG00000197586	ENST00000433417;ENST00000427553;ENST00000447877	.	.	.	5.71	-0.05	0.13832	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.35762	D	0.820267	.	.	.	.	.	.	T	0.44159	-0.9346	4	.	.	.	-18.1316	4.0851	0.09943	0.1021:0.5412:0.1449:0.2118	.	.	.	.	V	196;133;168	.	.	A	+	2	0	ENTPD6	25146164	0.946000	0.32159	0.180000	0.23079	0.004000	0.04260	0.017000	0.13399	0.373000	0.24621	-1.402000	0.01139	GCT		0.552	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			14	83	0	0	0	1	0	14	83					T	25198164	C	T	25198164	2	4	292	1	0	0	0	0	0	0	0	1	5143	784	28	2		2	ENTPD6	20	25198164	Silent	SNP	C	TCGA-EM-A4FO-01A-11D-A257-08	16558873	25198164	37827356	15	5154											
OTUD5	55593	broad.mit.edu	37	X	48781191	48781191	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:48781191T>C	ENST00000156084.4	-	7	1477	c.1417A>G	c.(1417-1419)Atg>Gtg	p.M473V	OTUD5_ENST00000396743.3_Missense_Mutation_p.M468V|OTUD5_ENST00000376488.3_Missense_Mutation_p.M468V|OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000428668.2_Missense_Mutation_p.M251V	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	473					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GGGGGCTTCATGCCCAATTCA	0.617																																						uc004dlu.3																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(1417-1419)Atg>Gtg		Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.							62	60	61					X																	48781191		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48781191T>C		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1417A>G	X.37:g.48781191T>C	ENSP00000156084:p.Met473Val		Somatic				OTUD5_uc004dlt.4_Missense_Mutation_p.M468V|OTUD5_uc004dlv.3_Missense_Mutation_p.M468V|OTUD5_uc011mmp.2_Missense_Mutation_p.M251V	p.M473V	NM_017602	NP_060072	WXS	Illumina GAIIx	Phase_I	Q96G74	OTUD5_HUMAN			6	1478	-			473					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1417A>G	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	T	3.462	-0.109766	0.06924	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.38	4.38	0.52667	.	0.382773	0.26196	N	0.025762	T	0.17280	0.0415	N	0.04508	-0.205	0.19300	N	0.999971	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13575	-1.0504	10	0.17832	T	0.49	-1.6895	5.7061	0.17909	0.0:0.1169:0.0:0.8831	.	251;473;468	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	V	468;444;346;473;468;251	ENSP00000379969:M468V;ENSP00000390767:M346V;ENSP00000156084:M473V;ENSP00000365671:M468V;ENSP00000401629:M251V	ENSP00000156084:M473V	M	-	1	0	OTUD5	48666135	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.469000	0.35343	1.944000	0.56390	0.425000	0.28330	ATG		0.617	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		5	17	0	0	0	1	0	5	17					C	48781191	T	C	48781191	3	2	292	1	0	0	0	0	1	0	0	0	11315	1464	51	3	310	3	OTUD5	23	48781191	Missense_Mutation	SNP	T	TCGA-EM-A4FO-01A-11D-A257-08		48781191	106489369	16	5155											
TMSB15A	11013	broad.mit.edu	37	X	101770063	101770063	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:101770063A>T	ENST00000289373.4	-	2	164	c.29T>A	c.(28-30)gTg>gAg	p.V10E		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	10					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						AAACTTCTCCACTTCCGACAA	0.383																																						uc004eje.3																			0				large_intestine(1)|lung(1)	2						c.(28-30)gTg>gAg		Homo sapiens thymosin beta 15a (TMSB15A), mRNA.							114	107	110					X																	101770063		2203	4300	6503	SO:0001583	missense	11013				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:101770063A>T	D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"thymosin-like 8"	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.29T>A	X.37:g.101770063A>T	ENSP00000289373:p.Val10Glu		Somatic					p.V10E	NM_021992	NP_919305	WXS	Illumina GAIIx	Phase_I	P0CG34	TB15A_HUMAN			1	152	-			10					A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	c.29T>A	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115521	0.37339	.	.	ENSG00000158164	ENST00000289373	T	0.60920	0.15	3.65	3.65	0.41850	.	0.000000	0.45606	D	0.000354	T	0.71525	0.3350	.	.	.	0.31450	N	0.670858	D	0.67145	0.996	D	0.69824	0.966	T	0.75144	-0.3421	9	0.87932	D	0	-9.6759	9.4926	0.38969	1.0:0.0:0.0:0.0	.	10	P0CG34	TB15A_HUMAN	E	10	ENSP00000289373:V10E	ENSP00000289373:V10E	V	-	2	0	TMSB15A	101656719	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.923000	0.63412	1.346000	0.45694	0.430000	0.28490	GTG		0.383	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992		15	34	0	0	0	1	0	15	34					T	101770063	A	T	101770063	3	4	292	1	0	0	0	0	1	0	0	0	16252	159	6	5	116	5	TMSB15A	23	101770063	Missense_Mutation	SNP	A	TCGA-EM-A4FO-01A-11D-A257-08	52988872	101770063	53500497	17	5156											
COL8A2	1296	broad.mit.edu	37	1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662																																						uc001bzv.2																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(799-801)gGa>gAa		Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.							15	18	17					1																	36564482		2195	4291	6486	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564482C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"Collagens"	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.800G>A	1.37:g.36564482C>T	ENSP00000380901:p.Gly267Glu		Somatic				COL8A2_uc001bzw.2_Missense_Mutation_p.G202E	p.G267E	NM_005202	NP_005193	WXS	Illumina GAIIx	Phase_I	P25067	CO8A2_HUMAN			1	807	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.800G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184875	0.38609	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.97924	-4.61;-4.61;-4.61	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.99312	0.9759	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.72032	D	0.01	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	267	P25067	CO8A2_HUMAN	E	267;267;202	ENSP00000305913:G267E;ENSP00000380901:G267E;ENSP00000436433:G202E	ENSP00000305913:G267E	G	-	2	0	COL8A2	36337069	0.999000	0.42202	0.977000	0.42913	0.470000	0.32858	5.903000	0.69877	1.948000	0.56530	0.205000	0.17691	GGA		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		11	9	0	0	0	1	0	11	9					T	36564482	C	T	36564482	3	4	293	1	0	0	0	0	1	0	0	0	3706	855	30	2	1315	2	COL8A2	1	36564482	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08		36564482	212686139	1	5157											
CTBS	1486	broad.mit.edu	37	1	85028950	85028950	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:85028950T>C	ENST00000370630.5	-	6	995	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	316					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTTATAGTTATAATAAGGAGC	0.323																																						uc001dka.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(946-948)tAt>tGt		Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.							41	47	45					1																	85028950		2203	4299	6502	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85028950T>C	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.947A>G	1.37:g.85028950T>C	ENSP00000359664:p.Tyr316Cys		Somatic				CTBS_uc001dkc.3_Missense_Mutation_p.Y225C|CTBS_uc001dkb.2_Missense_Mutation_p.Y110C	p.Y316C	NM_004388	NP_004379	WXS	Illumina GAIIx	Phase_I	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	5	1012	-			316					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.947A>G	CCDS698.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017626	0.35606	.	.	ENSG00000117151	ENST00000370630	T	0.04970	3.52	5.5	3.11	0.35812	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.178570	0.50627	D	0.000102	T	0.04679	0.0127	M	0.80028	2.48	0.49915	D	0.999835	P	0.38223	0.623	B	0.37833	0.259	T	0.18366	-1.0339	10	0.38643	T	0.18	-10.1914	10.336	0.43850	0.3772:0.0:0.0:0.6228	.	316	Q01459	DIAC_HUMAN	C	316	ENSP00000359664:Y316C	ENSP00000359659:Y225C	Y	-	2	0	CTBS	84801538	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	0.958000	0.29227	0.348000	0.23949	-0.344000	0.07964	TAT		0.323	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		10	19	0	0	0	1	0	10	19					C	85028950	T	C	85028950	3	2	293	1	0	0	0	0	1	0	0	0	3999	1406	49	3	218	3	CTBS	1	85028950	Missense_Mutation	SNP	T	TCGA-EM-A4FQ-01A-11D-A257-08	48464468	85028950	164221671	2	5158											
FMO1	2326	broad.mit.edu	37	1	171249978	171249978	+	Silent	SNP	G	G	A			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr1:171249978G>A	ENST00000354841.4	+	5	812	c.681G>A	c.(679-681)tcG>tcA	p.S227S	FMO1_ENST00000402921.2_Silent_p.S164S|FMO1_ENST00000367750.3_Silent_p.S227S|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	227			S -> T. {ECO:0000269|Ref.2}.		NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TCTTTGACTCGGGCTACCCAT	0.502																																						uc009wvz.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(679-681)tcG>tcA		Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.							109	93	98					1																	171249978		2203	4300	6503	SO:0001819	synonymous_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171249978G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.681G>A	1.37:g.171249978G>A			Somatic				FMO1_uc010pme.2_Silent_p.S164S|FMO1_uc001ghl.3_Silent_p.S227S|FMO1_uc001ghm.3_Silent_p.S227S	p.S227S	NM_002021	NP_002012	WXS	Illumina GAIIx	Phase_I	Q01740	FMO1_HUMAN			5	817	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		227		S -> T.			A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	c.681G>A	CCDS1294.1																																																																																				0.502	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		4	53	0	0	0	1	0	4	53					A	171249978	G	A	171249978	2	1	293	1	0	0	0	0	0	0	0	1	5954	1103	39	1		1	FMO1	1	171249978	Silent	SNP	G	TCGA-EM-A4FQ-01A-11D-A257-08	86221028	171249978	78000643	3	5159											
TGFBR2	7048	broad.mit.edu	37	3	30713340	30713340	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr3:30713340A>G	ENST00000295754.5	+	4	1047	c.665A>G	c.(664-666)gAt>gGt	p.D222G	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D247G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	222					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|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 II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCCTGGAAGATGACCGCTCT	0.562																																						uc003cen.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(739-741)gAt>gGt		Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 1, mRNA.							86	66	73					3																	30713340		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713340A>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.665A>G	3.37:g.30713340A>G	ENSP00000295754:p.Asp222Gly		Somatic				TGFBR2_uc021wut.1_Missense_Mutation_p.D100G|TGFBR2_uc003ceo.3_Missense_Mutation_p.D222G	p.D247G	NM_001024847	NP_001020018	WXS	Illumina GAIIx	Phase_I	P37173	TGFR2_HUMAN			4	1122	+			222			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.740A>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.076764	0.55753	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.85629	-2.0;-2.01	5.43	5.43	0.79202	.	0.086607	0.85682	D	0.000000	D	0.85287	0.5662	M	0.70275	2.135	0.80722	D	1	B;B	0.25390	0.125;0.028	B;B	0.28553	0.091;0.037	D	0.83477	0.0062	10	0.51188	T	0.08	.	15.47	0.75434	1.0:0.0:0.0:0.0	.	222;247	P37173;D2JYI1	TGFR2_HUMAN;.	G	222;247;88	ENSP00000295754:D222G;ENSP00000351905:D247G	ENSP00000295754:D222G	D	+	2	0	TGFBR2	30688344	1.000000	0.71417	0.935000	0.37517	0.846000	0.48090	9.326000	0.96389	2.043000	0.60533	0.533000	0.62120	GAT		0.562	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			17	24	0	0	0	1	0	17	24					G	30713340	A	G	30713340	3	3	293	1	0	0	0	0	1	0	0	0	15819	333	12	3	758	3	TGFBR2	3	30713340	Missense_Mutation	SNP	A	TCGA-EM-A4FQ-01A-11D-A257-08		30713340	167309090	4	5160											
TRPC7	57113	broad.mit.edu	37	5	135651397	135651397	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr5:135651397G>C	ENST00000513104.1	-	3	1133	c.851C>G	c.(850-852)aCa>aGa	p.T284R	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	284					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCTCTTCTGTGTCTCGGCA	0.463																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(850-852)aCa>aGa		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							90	94	93					5																	135651397		2071	4232	6303	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135651397G>C	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.851C>G	5.37:g.135651397G>C	ENSP00000426070:p.Thr284Arg		Somatic				TRPC7_uc010jef.2_Missense_Mutation_p.T275R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Intron|TRPC7_uc010jei.2_Intron	p.T284R	NM_020389	NP_065122	WXS	Illumina GAIIx	Phase_I	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	1073	-			284					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.851C>G	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.311550|5.311550	0.95655|0.95655	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000502753|ENST00000513104;ENST00000265193	.|T	.|0.63096	.|-0.02	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.049913	.|0.85682	.|D	.|0.000000	T|T	0.77772|0.77772	0.4180|0.4180	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P;P	.|0.48503	.|0.911;0.837	.|P;P	.|0.57620	.|0.824;0.707	T|T	0.78679|0.78679	-0.2110|-0.2110	5|10	.|0.87932	.|D	.|0	-12.7127|-12.7127	19.8946|19.8946	0.96949|0.96949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|284;284	.|Q70T25;Q9HCX4	.|.;TRPC7_HUMAN	Q|R	283|284	.|ENSP00000426070:T284R	.|ENSP00000265193:T284R	H|T	-|-	3|2	2|0	TRPC7|TRPC7	135679296|135679296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAC|ACA		0.463	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		13	28	0	0	0	1	0	13	28					C	135651397	G	C	135651397	3	2	293	1	0	0	0	0	1	0	0	0	16581	1377	48	4	1777	4	TRPC7	5	135651397	Missense_Mutation	SNP	G	TCGA-EM-A4FQ-01A-11D-A257-08		135651397	45263863	5	5161											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	35	0	0	0	1	0	26	35					T	140453136	A	T	140453136	3	4	293	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FQ-01A-11D-A257-08		140453136	18685527	6	5162											
NUP93	9688	broad.mit.edu	37	16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					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)|nuclear pore complex assembly (GO:0051292)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	uc002eka.3																			1	Substitution - Nonsense(1)	p.E14K(3)|p.Q15*(2)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.							67	65	66					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*		Somatic					p.Q15*	NM_014669	NP_001229725	WXS	Illumina GAIIx	Phase_I	Q8N1F7	NUP93_HUMAN			1	164	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		19	41	0	0	0	1	0	19	41					T	56782202	C	T	56782202	4	4	293	1	0	0	0	0	0	1	0	0	10772	479	17	2	45	2	NUP93	16	56782202	Nonsense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08		56782202	33572551	7	5163											
C16orf46	123775	broad.mit.edu	37	16	81095125	81095125	+	Missense_Mutation	SNP	C	C	T	rs370784988		TCGA-EM-A4FQ-01A-11D-A257-08	TCGA-EM-A4FQ-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	396f1d6b-5434-4c77-908c-24cdb5af5671	9172fce9-fc68-4679-b6b2-019262cb0f09	g.chr16:81095125C>T	ENST00000299578.5	-	4	1064	c.829G>A	c.(829-831)Gac>Aac	p.D277N	C16orf46_ENST00000444657.3_5'Flank|C16orf46_ENST00000378611.4_Missense_Mutation_p.D277N|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	277						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATGGCGTGTCGTTGACCATA	0.557													C|||	1	0.000199681	0	0	5008	,	,		17064	0		0	False		,,,				2504	0.001					uc002fgc.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(829-831)Gac>Aac		Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.		C	ASN/ASP,ASN/ASP	0,4404		0,0,2202	147	132	137		829,829	-0.9	0.0	16		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C16orf46	NM_001100873.1,NM_152337.2	23,23	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	277/389,277/396	81095125	1,13003	2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095125C>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.829G>A	16.37:g.81095125C>T	ENSP00000299578:p.Asp277Asn		Somatic				C16orf46_uc010chf.3_Missense_Mutation_p.D277N|C16orf46_uc010vno.2_Missense_Mutation_p.D4N	p.D277N	NM_152337	NP_689550	WXS	Illumina GAIIx	Phase_I	Q6P387	CP046_HUMAN			3	1088	-			277					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.829G>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426097	0.25726	0.0	1.16E-4	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.15372	2.43;2.43	5.57	-0.923	0.10465	.	0.904379	0.09486	N	0.795639	T	0.09555	0.0235	L	0.34521	1.04	0.09310	N	1	B;B	0.24132	0.098;0.098	B;B	0.16722	0.016;0.016	T	0.38001	-0.9681	10	0.24483	T	0.36	.	1.3906	0.02250	0.1518:0.4365:0.1284:0.2833	.	277;277	Q6P387-2;Q6P387	.;CP046_HUMAN	N	277;4;277	ENSP00000367874:D277N;ENSP00000299578:D277N	ENSP00000299578:D277N	D	-	1	0	C16orf46	79652626	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.121000	0.15667	-0.423000	0.07394	-0.993000	0.02533	GAC		0.557	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		48	93	0	0	0	1	0	48	93					T	81095125	C	T	81095125	3	4	293	1	0	0	0	0	1	0	0	0	1815	884	31	1	390	1	C16orf46	16	81095125	Missense_Mutation	SNP	C	TCGA-EM-A4FQ-01A-11D-A257-08	24312923	81095125	9259628	8	5164											
CLSTN2	64084	broad.mit.edu	37	3	140140038	140140038	+	Missense_Mutation	SNP	G	G	A	rs375249688		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr3:140140038G>A	ENST00000458420.3	+	5	899	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACCGCCTACGACTGTGGACA	0.517										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(709-711)Gac>Aac		Homo sapiens calsyntenin 2 (CLSTN2), mRNA.		G	ASN/ASP	0,4406		0,0,2203	177	165	169		709	5.7	1.0	3		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLSTN2	NM_022131.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	237/956	140140038	1,13005	2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140140038G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.709G>A	3.37:g.140140038G>A	ENSP00000402460:p.Asp237Asn	HNSCC(16;0.037)	Somatic				CLSTN2_uc003etm.2_Missense_Mutation_p.D237N	p.D237N	NM_022131	NP_071414	WXS	Illumina GAIIx	Phase_I	Q9H4D0	CSTN2_HUMAN			4	899	+			237			Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.709G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364454	0.95877	0.0	1.16E-4	ENSG00000158258	ENST00000458420	T	0.79940	-1.32	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	H	0.94886	3.595	0.80722	D	1	D	0.65815	0.995	P	0.57468	0.821	D	0.93408	0.6766	10	0.87932	D	0	-7.9719	17.3368	0.87283	0.0:0.0:1.0:0.0	.	237	Q9H4D0	CSTN2_HUMAN	N	237	ENSP00000402460:D237N	ENSP00000402460:D237N	D	+	1	0	CLSTN2	141622728	1.000000	0.71417	0.978000	0.43139	0.954000	0.61252	9.075000	0.94004	2.679000	0.91253	0.655000	0.94253	GAC		0.517	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		11	157	0	0	0	1	0	11	157					A	140140038	G	A	140140038	3	1	294	1	0	0	0	0	1	0	0	0	3562	1058	37	1	727	1	CLSTN2	3	140140038	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08		140140038	57882392	1	5165											
SNRNP48	154007	broad.mit.edu	37	6	7601664	7601664	+	Missense_Mutation	SNP	G	G	C	rs141422613		TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:7601664G>C	ENST00000342415.5	+	5	561	c.502G>C	c.(502-504)Gta>Cta	p.V168L		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	168					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTATGATTTCGTAGTTGAGGA	0.378																																						uc003mxr.3																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(502-504)Gta>Cta		Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.							103	100	101					6																	7601664		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding	g.chr6:7601664G>C	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.502G>C	6.37:g.7601664G>C	ENSP00000339834:p.Val168Leu		Somatic				SNRNP48_uc003mxs.3_Non-coding_Transcript	p.V168L	NM_152551	NP_689764	WXS	Illumina GAIIx	Phase_I	Q6IEG0	SNR48_HUMAN			4	561	+			168					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.502G>C	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083486	0.94050	.	.	ENSG00000168566	ENST00000342415	T	0.39787	1.06	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	L	0.50333	1.59	0.53688	D	0.999979	D	0.69078	0.997	D	0.76575	0.988	T	0.53194	-0.8473	10	0.72032	D	0.01	-15.1815	17.8657	0.88794	0.0:0.0:1.0:0.0	.	168	Q6IEG0	SNR48_HUMAN	L	168	ENSP00000339834:V168L	ENSP00000339834:V168L	V	+	1	0	SNRNP48	7546663	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.457000	0.73505	2.826000	0.97356	0.491000	0.48974	GTA		0.378	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		34	60	0	0	0	1	0	34	60					C	7601664	G	C	7601664	3	2	294	1	0	0	0	0	1	0	0	0	14857	1145	40	4	520	4	SNRNP48	6	7601664	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08		7601664	163513403	2	5166											
KIF25	3834	broad.mit.edu	37	6	168443303	168443303	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr6:168443303G>T	ENST00000443060.2	+	9	1283	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	KIF25_ENST00000354419.2_Missense_Mutation_p.A298S|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	298	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCTTGCGGCCCTGGCAGG	0.662																																						uc003qwk.1																			0		p.A297A(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(892-894)Gcc>Tcc		Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.							104	100	102					6																	168443303		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443303G>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.892G>T	6.37:g.168443303G>T	ENSP00000388878:p.Ala298Ser		Somatic				KIF25_uc003qwl.1_Intron	p.A298S	NM_030615	NP_085118	WXS	Illumina GAIIx	Phase_I	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1154	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	298					O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.892G>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174722	0.57692	.	.	ENSG00000125337	ENST00000443060;ENST00000354419	T;T	0.77358	-1.09;-1.09	4.13	4.13	0.48395	Kinesin, motor domain (3);	0.067083	0.64402	D	0.000013	T	0.75191	0.3816	L	0.59967	1.855	0.80722	D	1	D	0.52996	0.957	P	0.52881	0.712	T	0.77236	-0.2662	10	0.48119	T	0.1	-20.7057	13.6293	0.62186	0.0:0.0:1.0:0.0	.	298	Q9UIL4	KIF25_HUMAN	S	298	ENSP00000388878:A298S;ENSP00000346401:A298S	ENSP00000346401:A298S	A	+	1	0	KIF25	168186152	1.000000	0.71417	0.034000	0.17996	0.057000	0.15508	5.351000	0.66022	2.011000	0.59026	0.543000	0.68304	GCC		0.662	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			41	60	0	0	0	1	0	41	60					T	168443303	G	T	168443303	3	4	294	1	0	0	0	0	1	0	0	0	8293	1203	42	4	918	4	KIF25	6	168443303	Missense_Mutation	SNP	G	TCGA-EM-A4FR-01A-11D-A257-08	160841639	168443303	2671764	3	5167											
CACNA1B	774	broad.mit.edu	37	9	141016186	141016186	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FR-01A-11D-A257-08	TCGA-EM-A4FR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cea715a5-b042-482e-9a2a-aa2781a086e2	b6b2661b-4529-47d8-84aa-cf750080d78b	g.chr9:141016186C>T	ENST00000371372.1	+	47	6900	c.6755C>T	c.(6754-6756)tCt>tTt	p.S2252F	CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2250F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2253F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2190F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2251F|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S1446F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2252					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)	GCCCCTGGCTCTCGAATTGGC	0.662																																						uc004cog.3																			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.(6748-6750)tCt>tTt		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						33	39	37					9																	141016186		1985	4160	6145	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.chr9:141016186C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6755C>T	9.37:g.141016186C>T	ENSP00000360423:p.Ser2252Phe		Somatic				CACNA1B_uc022bqn.1_Missense_Mutation_p.L2188F|CACNA1B_uc004coi.3_Missense_Mutation_p.S1464F	p.S2250F	NM_000718	NP_000709	WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6894	+	all_cancers(76;0.166)		2252					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.6749C>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.437351|3.437351	0.62955|0.62955	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000277551|ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D|D;D;D;D;D	0.96587|0.97016	-4.06|-3.99;-4.21;-3.99;-3.97;-3.97	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.906908	.|0.09427	.|N	.|0.803553	D|D	0.97062|0.97062	0.9040|0.9040	L|L	0.40543|0.40543	1.245|1.245	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D	.|0.71674	.|0.995;0.998	.|P;P	.|0.62089	.|0.798;0.898	D|D	0.95097|0.95097	0.8227|0.8227	6|10	.|0.54805	.|T	.|0.06	.|.	18.5267|18.5267	0.90975|0.90975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2251;2250	.|B1AQK7;B1AQK6	.|.;.	F|F	2190|2252;1446;2250;2251;2253	ENSP00000277551:L2190F|ENSP00000360423:S2252F;ENSP00000277549:S1446F;ENSP00000360414:S2250F;ENSP00000360408:S2251F;ENSP00000360406:S2253F	.|ENSP00000277549:S1446F	L|S	+|+	1|2	0|0	CACNA1B|CACNA1B	140136007|140136007	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.068000|0.068000	0.16541|0.16541	5.387000|5.387000	0.66243|0.66243	2.381000|2.381000	0.81170|0.81170	0.555000|0.555000	0.69702|0.69702	CTC|TCT		0.662	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		17	25	0	0	0	1	0	17	25					T	141016186	C	T	141016186	3	4	294	1	0	0	0	0	1	0	0	0	2539	913	32	2	6937	2	CACNA1B	9	141016186	Missense_Mutation	SNP	C	TCGA-EM-A4FR-01A-11D-A257-08		141016186	197245	4	5168											
ZNF362	149076	broad.mit.edu	37	1	33745738	33745738	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:33745738C>T	ENST00000539719.1	+	5	533	c.363C>T	c.(361-363)tcC>tcT	p.S121S	ZNF362_ENST00000373428.5_Silent_p.S121S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGGCTGTCCACCCGGACCC	0.687																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(361-363)tcC>tcT		Homo sapiens zinc finger protein 362 (ZNF362), mRNA.							22	28	26					1																	33745738		2198	4291	6489	SO:0001819	synonymous_variant	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745738C>T		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.363C>T	1.37:g.33745738C>T			Somatic					p.S121S	NM_152493	NP_689706	WXS	Illumina GAIIx	Phase_I	Q5T0B9	ZN362_HUMAN			4	533	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	121					Q8WYU4	Silent	SNP	ENST00000539719.1	37	c.363C>T	CCDS377.1																																																																																				0.687	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		11	33	0	0	0	1	0	11	33					T	33745738	C	T	33745738	2	4	295	1	0	0	0	0	0	0	0	1	17865	581	21	2		2	ZNF362	1	33745738	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		33745738	215504883	1	5169											
DHCR24	1718	broad.mit.edu	37	1	55349397	55349397	+	Missense_Mutation	SNP	C	C	T	rs387906939		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:55349397C>T	ENST00000371269.3	-	2	379	c.281G>A	c.(280-282)cGc>cAc	p.R94H	DHCR24_ENST00000535035.1_Missense_Mutation_p.R53H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	94	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|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)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CCAGCCAGGGCGCCCCGTGCA	0.562																																					Pancreas(39;516 1021 24601 30715 32780)	uc001cyc.1																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(280-282)cGc>cAc		Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.							194	166	176					1																	55349397		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55349397C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.281G>A	1.37:g.55349397C>T	ENSP00000360316:p.Arg94His		Somatic				DHCR24_uc010ook.1_Missense_Mutation_p.R53H	p.R94H	NM_014762	NP_055577	WXS	Illumina GAIIx	Phase_I	Q15392	DHC24_HUMAN			1	410	-			94			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.281G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448084	0.96205	.	.	ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000535035	D;D	0.94537	-2.05;-3.45	5.25	5.25	0.73442	FAD-binding, type 2 (2);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98633	1.0672	10	0.66056	D	0.02	-6.311	18.8672	0.92298	0.0:1.0:0.0:0.0	.	53;94	B7Z817;Q15392	.;DHC24_HUMAN	H	94;94;53	ENSP00000360316:R94H;ENSP00000440191:R53H	ENSP00000360316:R94H	R	-	2	0	DHCR24	55121985	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.818000	0.86416	2.467000	0.83353	0.655000	0.94253	CGC		0.562	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		22	75	0	0	0	1	0	22	75					T	55349397	C	T	55349397	3	4	295	1	0	0	0	0	1	0	0	0	4476	768	27	1	1301	1	DHCR24	1	55349397	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	21603659	55349397	193901224	2	5170											
ELTD1	64123	broad.mit.edu	37	1	79383543	79383543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:79383543C>A	ENST00000370742.3	-	11	1717	c.1654G>T	c.(1654-1656)Gga>Tga	p.G552*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	552					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)		TATCTGTATCCTAGTGCTGCC	0.358																																						uc001diq.4																			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.(1654-1656)Gga>Tga		Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.							135	134	135					1																	79383543		1853	4094	5947	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr1:79383543C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1654G>T	1.37:g.79383543C>A	ENSP00000359778:p.Gly552*		Somatic					p.G552*	NM_022159	NP_071442	WXS	Illumina GAIIx	Phase_I	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	10	1810	-			552					B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1654G>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	40	8.433112	0.98808	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	.	.	.	5.79	4.87	0.63330	.	0.051139	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1351	0.72558	0.0:0.9313:0.0:0.0687	.	.	.	.	X	552;10	.	.	G	-	1	0	ELTD1	79156131	1.000000	0.71417	0.981000	0.43875	0.846000	0.48090	6.082000	0.71318	2.749000	0.94314	0.491000	0.48974	GGA		0.358	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		4	82	0	0	0	1	0	4	82					A	79383543	C	A	79383543	4	1	295	1	0	0	0	0	0	1	0	0	5084	690	24	4	438	4	ELTD1	1	79383543	Nonsense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	24034146	79383543	169867078	3	5171											
CRTC2	200186	broad.mit.edu	37	1	153924016	153924016	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:153924016G>A	ENST00000368633.1	-	11	1251	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	CRTC2_ENST00000368630.3_Missense_Mutation_p.S55F|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	375	Ser-rich.				gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.S375F(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCAAGGAGGAGGCAGGCAG	0.642																																						uc021pab.1																			1	Substitution - Missense(1)	p.S375F(2)	skin(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1123-1125)tCc>tTc		Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.							54	59	58					1																	153924016		2202	4300	6502	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924016G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1124C>T	1.37:g.153924016G>A	ENSP00000357622:p.Ser375Phe		Somatic				CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	p.S375F	NM_181715	NP_859066	WXS	Illumina GAIIx	Phase_I	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1283	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		375			Ser-rich.		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1124C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544338	0.65198	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.48201	0.82;2.65	4.63	4.63	0.57726	.	0.538685	0.19321	N	0.117131	T	0.54481	0.1861	L	0.57536	1.79	0.42541	D	0.993078	D	0.69078	0.997	D	0.63597	0.916	T	0.55952	-0.8059	10	0.52906	T	0.07	-14.715	15.0183	0.71605	0.0:0.0:1.0:0.0	.	375	Q53ET0	CRTC2_HUMAN	F	55;375	ENSP00000357619:S55F;ENSP00000357622:S375F	ENSP00000357619:S55F	S	-	2	0	CRTC2	152190640	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	5.617000	0.67716	2.396000	0.81511	0.557000	0.71058	TCC		0.642	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		6	38	0	0	0	1	0	6	38					A	153924016	G	A	153924016	3	1	295	1	0	0	0	0	1	0	0	0	3900	1174	41	2	973	2	CRTC2	1	153924016	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	74540473	153924016	95326605	4	5172											
FBXL2	25827	broad.mit.edu	37	3	33420177	33420177	+	Splice_Site	SNP	A	A	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:33420177A>G	ENST00000484457.1	+	13	986	c.895A>G	c.(895-897)Ata>Gta	p.I299V	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Splice_Site_p.I9V|FBXL2_ENST00000538892.1_Splice_Site_p.I231V|FBXL2_ENST00000538181.1_Splice_Site_p.I215V|FBXL2_ENST00000507198.1_Splice_Site_p.I231V|FBXL2_ENST00000542085.1_Splice_Site_p.I9V	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTCTCTCCAGATAACCGACAG	0.428																																						uc003cfp.3																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.e13-1		Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.							186	159	168					3																	33420177		2203	4300	6503	SO:0001630	splice_region_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33420177A>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.895-1A>G	3.37:g.33420177A>G			Somatic				FBXL2_uc011axm.1_Splice_Site|FBXL2_uc011axn.1_Splice_Site|FBXL2_uc011axp.2_Splice_Site_p.I215_splice|FBXL2_uc021wuy.1_Splice_Site_p.I231_splice|FBXL2_uc011axo.2_Splice_Site_p.I194_splice|FBXL2_uc011axr.1_Splice_Site|FBXL2_uc011axq.1_Splice_Site|FBXL2_uc011axs.1_Splice_Site	p.I299_splice	NM_012157	NP_036289	WXS	Illumina GAIIx	Phase_I	Q9UKC9	FBXL2_HUMAN			13	966	+			299						Splice_Site	SNP	ENST00000484457.1	37	c.895_splice	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850473	0.32699	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000446237;ENST00000507198;ENST00000542085	T;T;T;T;T;T	0.17691	4.2;4.2;4.2;2.26;4.2;3.42	4.56	4.56	0.56223	.	0.114031	0.64402	D	0.000012	T	0.13756	0.0333	L	0.31294	0.92	0.48087	D	0.999583	B;B;B	0.13594	0.007;0.007;0.008	B;B;B	0.20384	0.029;0.029;0.009	T	0.08086	-1.0739	9	.	.	.	.	14.6801	0.69012	1.0:0.0:0.0:0.0	.	215;194;299	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	V	299;231;215;9;231;9	ENSP00000417601:I299V;ENSP00000441228:I231V;ENSP00000440794:I215V;ENSP00000389251:I9V;ENSP00000426163:I231V;ENSP00000445039:I9V	.	I	+	1	0	FBXL2	33395181	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.446000	0.52928	1.995000	0.58328	0.529000	0.55759	ATA		0.428	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	Missense_Mutation	13	29	0	0	0	1	0	13	29					G	33420177	A	G	33420177	5	3	295	1	0	0	0	0	0	0	1	0	5716	347	12	3	945	3	FBXL2	3	33420177	Splice_Site	SNP	A	TCGA-EM-A4FV-01A-11D-A257-08		33420177	164602253	5	5173											
PROS1	5627	broad.mit.edu	37	3	93595969	93595969	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:93595969G>T	ENST00000394236.3	-	14	2027	c.1711C>A	c.(1711-1713)Caa>Aaa	p.Q571K	PROS1_ENST00000407433.1_Missense_Mutation_p.Q440K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	571	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGAGATTGTTGATCGGAACAT	0.373																																						uc003drb.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1711-1713)Caa>Aaa		Homo sapiens protein S (alpha) (PROS1), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						106	99	101					3																	93595969		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93595969G>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1711C>A	3.37:g.93595969G>T	ENSP00000377783:p.Gln571Lys		Somatic				PROS1_uc010hoo.3_Missense_Mutation_p.Q440K|PROS1_uc003dqz.4_Missense_Mutation_p.Q440K	p.Q571K	NM_000313	NP_000304	WXS	Illumina GAIIx	Phase_I	P07225	PROS_HUMAN			13	2052	-			571			Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1711C>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726621	0.15439	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78126	-1.15;-1.15	4.86	1.82	0.25136	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.402484	0.27375	N	0.019644	T	0.70979	0.3286	M	0.62723	1.935	0.09310	N	1	B	0.28128	0.201	B	0.31245	0.126	T	0.57458	-0.7808	10	0.25106	T	0.35	.	8.5651	0.33534	0.0:0.27:0.4799:0.2501	.	571	P07225	PROS_HUMAN	K	571;440	ENSP00000377783:Q571K;ENSP00000385794:Q440K	ENSP00000377783:Q571K	Q	-	1	0	PROS1	95078659	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	1.235000	0.32671	0.600000	0.29862	0.555000	0.69702	CAA		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		9	34	0	0	0	1	0	9	34					T	93595969	G	T	93595969	3	4	295	1	0	0	0	0	1	0	0	0	12558	1299	45	4	327	4	PROS1	3	93595969	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	60175792	93595969	104426461	6	5174											
MRS2	57380	broad.mit.edu	37	6	24416723	24416723	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:24416723G>C	ENST00000378386.3	+	7	911	c.818G>C	c.(817-819)tGg>tCg	p.W273S	MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.W273S|MRS2_ENST00000443868.2_Missense_Mutation_p.W276S|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.W223S	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	273						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTATCAAAATGGAGTGACCCA	0.318																																						uc011djl.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(826-828)tGg>tCg		Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.							80	91	87					6																	24416723		2203	4292	6495	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24416723G>C	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.818G>C	6.37:g.24416723G>C	ENSP00000367637:p.Trp273Ser		Somatic				MRS2_uc003nea.3_Missense_Mutation_p.W273S|MRS2_uc003neb.3_Missense_Mutation_p.W273S|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.W223S	p.W276S	NM_020662	NP_065713	WXS	Illumina GAIIx	Phase_I	Q9HD23	MRS2_HUMAN			7	949	+			273					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.827G>C	CCDS4552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.556537|2.556537	0.45487|0.45487	.|.	.|.	ENSG00000124532|ENSG00000124532	ENST00000446191|ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	.|T;T;T;T	.|0.42131	.|1.56;1.54;0.98;1.51	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.137763	.|0.56097	.|D	.|0.000025	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.69078	.|0.997;0.951;0.989;0.921	.|P;P;P;B	.|0.62298	.|0.9;0.675;0.843;0.36	T|T	0.20538|0.20538	-1.0272|-1.0272	5|10	.|0.46703	.|T	.|0.11	-17.5816|-17.5816	12.8395|12.8395	0.57793|0.57793	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	.|223;276;273;273	.|F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.|.;.;MRS2_HUMAN;.	R|S	92|223;273;273;276	.|ENSP00000441839:W223S;ENSP00000367637:W273S;ENSP00000367604:W273S;ENSP00000399585:W276S	.|ENSP00000367604:W273S	G|W	+|+	1|2	0|0	MRS2|MRS2	24524702|24524702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.620000|0.620000	0.37586|0.37586	7.592000|7.592000	0.82676|0.82676	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.318	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			17	61	0	0	0	1	0	17	61					C	24416723	G	C	24416723	3	2	295	1	0	0	0	0	1	0	0	0	9851	1357	47	4	844	4	MRS2	6	24416723	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08		24416723	146698344	7	5175											
GABBR1	2550	broad.mit.edu	37	6	29591190	29591190	+	Silent	SNP	T	T	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:29591190T>G	ENST00000377034.4	-	8	1190	c.855A>C	c.(853-855)cgA>cgC	p.R285R	GABBR1_ENST00000376977.3_Silent_p.R285R|GABBR1_ENST00000377012.4_Silent_p.R168R|GABBR1_ENST00000355973.3_Silent_p.R168R|GABBR1_ENST00000377016.4_Silent_p.R223R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	285					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATGGGTGCGTTCGGAAGAAAG	0.562																																						uc003nmt.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(853-855)cgA>cgC		Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	Baclofen(DB00181)|Progabide(DB00837)						149	114	126					6																	29591190		2203	4300	6503	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29591190T>G	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.855A>C	6.37:g.29591190T>G			Somatic				GABBR1_uc003nmp.4_Silent_p.R168R|GABBR1_uc003nms.4_Silent_p.R168R|GABBR1_uc003nmu.4_Silent_p.R223R|GABBR1_uc011dlr.2_Silent_p.R108R|GABBR1_uc011dls.1_Silent_p.R285R	p.R285R	NM_001470	NP_001461	WXS	Illumina GAIIx	Phase_I	Q9UBS5	GABR1_HUMAN			7	1191	-			285					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.855A>C	CCDS4663.1																																																																																				0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			6	20	0	0	0	1	0	6	20					G	29591190	T	G	29591190	2	3	295	1	0	0	0	0	0	0	0	1	6155	1770	62	5		5	GABBR1	6	29591190	Silent	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08	5174467	29591190	141523877	8	5176											
SFRS13B	135295	broad.mit.edu	37	6	89808601	89808601	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:89808601G>C	ENST00000452027.2	-	5	675	c.482C>G	c.(481-483)tCt>tGt	p.S161C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	161	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TGCTGAGGTAGACCGCCTTGG	0.428																																						uc021zcq.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(481-483)tCt>tGt		Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA.							237	223	228					6																	89808601		1874	4104	5978	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	RNA binding|RS domain binding|nucleotide binding|unfolded protein binding	g.chr6:89808601G>C	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	21220	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 19", "SR splicing factor 12"		"splicing factor, arginine/serine-rich 13B"	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.482C>G	6.37:g.89808601G>C	ENSP00000414302:p.Ser161Cys		Somatic					p.S161C	NM_080743	NP_542781	WXS	Illumina GAIIx	Phase_I	Q8WXF0	SRS12_HUMAN			4	676	-			161			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.482C>G	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837994	0.71373	.	.	ENSG00000154548	ENST00000452027	T	0.09255	3.0	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000004	T	0.22205	0.0535	L	0.57536	1.79	0.37339	D	0.910296	D	0.76494	0.999	D	0.74674	0.984	T	0.00583	-1.1659	10	0.66056	D	0.02	.	17.4794	0.87669	0.0:0.0:1.0:0.0	.	161	Q8WXF0	SRS12_HUMAN	C	161	ENSP00000414302:S161C	ENSP00000414302:S161C	S	-	2	0	SRSF12	89865320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.541000	0.53618	2.663000	0.90544	0.585000	0.79938	TCT		0.428	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		44	123	0	0	0	1	0	44	123					C	89808601	G	C	89808601	3	2	295	1	0	0	0	0	1	0	0	0	14169	942	33	4	307	4	SFRS13B	6	89808601	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	60217411	89808601	81306466	9	5177											
RRAGD	58528	broad.mit.edu	37	6	90082246	90082246	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:90082246G>T	ENST00000369415.4	-	6	1237	c.961C>A	c.(961-963)Ctt>Att	p.L321I	RRAGD_ENST00000359203.3_Missense_Mutation_p.L170I	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GTATTATTAAGCTTTATGATG	0.398											OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pnd.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(961-963)Ctt>Att		Homo sapiens Ras-related GTP binding D (RRAGD), mRNA.							109	113	112					6																	90082246		2203	4300	6503	SO:0001583	missense	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90082246G>T	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.961C>A	6.37:g.90082246G>T	ENSP00000358423:p.Leu321Ile		Somatic	OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1272	RRAGD_uc010kcc.3_Missense_Mutation_p.L170I	p.L321I	NM_021244	NP_067067	WXS	Illumina GAIIx	Phase_I	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	5	1244	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	321						Missense_Mutation	SNP	ENST00000369415.4	37	c.961C>A	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402279	0.62288	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	4.86	2.07	0.26955	.	0.000000	0.64402	D	0.000001	T	0.61825	0.2378	M	0.82323	2.585	0.58432	D	0.999998	D	0.60575	0.988	P	0.59487	0.858	T	0.66268	-0.5966	9	0.72032	D	0.01	-16.459	9.0447	0.36338	0.3036:0.0:0.6964:0.0	.	321	Q9NQL2	RRAGD_HUMAN	I	321;170	.	ENSP00000352131:L170I	L	-	1	0	RRAGD	90138965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.854000	0.48325	0.468000	0.27243	0.563000	0.77884	CTT		0.398	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		13	30	0	0	0	1	0	13	30					T	90082246	G	T	90082246	3	4	295	1	0	0	0	0	1	0	0	0	13675	971	34	4	249	4	RRAGD	6	90082246	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	273645	90082246	81032821	10	5178											
HOXA1	3198	broad.mit.edu	37	7	27134894	27134894	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:27134894T>C	ENST00000343060.4	-	1	699	c.638A>G	c.(637-639)aAc>aGc	p.N213S	HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	213					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGGAGGGTTTCTTTTGAC	0.488																																						uc003sye.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(637-639)aAc>aGc		Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.							46	53	50					7																	27134894		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134894T>C		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.638A>G	7.37:g.27134894T>C	ENSP00000343246:p.Asn213Ser		Somatic				HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_Missense_Mutation_p.N213S|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	p.N213S	NM_005522	NP_005513	WXS	Illumina GAIIx	Phase_I	P49639	HXA1_HUMAN			0	732	-			213					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.638A>G	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657009	0.67586	.	.	ENSG00000105991	ENST00000343060	D	0.90563	-2.69	5.01	5.01	0.66863	.	0.192452	0.53938	D	0.000054	D	0.95564	0.8558	M	0.86805	2.84	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.96277	0.9203	10	0.87932	D	0	.	14.551	0.68068	0.0:0.0:0.0:1.0	.	213	P49639	HXA1_HUMAN	S	213	ENSP00000343246:N213S	ENSP00000343246:N213S	N	-	2	0	HOXA1	27101419	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.265000	0.78442	2.110000	0.64415	0.459000	0.35465	AAC		0.488	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			5	31	0	0	0	1	0	5	31					C	27134894	T	C	27134894	3	2	295	1	0	0	0	0	1	0	0	0	7288	1725	60	3	377	3	HOXA1	7	27134894	Missense_Mutation	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08		27134894	132003769	11	5179											
IFRD1	3475	broad.mit.edu	37	7	112112868	112112868	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:112112868G>A	ENST00000403825.3	+	11	1479	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	IFRD1_ENST00000535603.1_Missense_Mutation_p.M356I|IFRD1_ENST00000005558.4_Missense_Mutation_p.M406I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	406				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). {ECO:0000305}.	adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCCCAGTGATGCTTGATGCTG	0.353																																						uc003vgh.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1216-1218)atG>atA		Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.							136	138	137					7																	112112868		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112868G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1218G>A	7.37:g.112112868G>A	ENSP00000384477:p.Met406Ile		Somatic				IFRD1_uc011kmn.2_Missense_Mutation_p.M356I|IFRD1_uc003vgj.3_Missense_Mutation_p.M406I|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.M356I|IFRD1_uc003vgk.3_Missense_Mutation_p.M123I	p.M406I	NM_001007245	NP_001184009	WXS	Illumina GAIIx	Phase_I	O00458	IFRD1_HUMAN			11	1688	+			406	LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).				B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.1218G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733902	0.48939	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.81	5.81	0.92471	Interferon-related developmental regulator, C-terminal (1);	0.152313	0.64402	D	0.000006	T	0.19685	0.0473	N	0.00926	-1.1	0.53688	D	0.999975	B;B	0.15719	0.014;0.014	B;B	0.20577	0.03;0.03	T	0.21449	-1.0245	10	0.17369	T	0.5	-21.0785	19.6448	0.95771	0.0:0.0:1.0:0.0	.	406;406	A4D0U1;O00458	.;IFRD1_HUMAN	I	406;406;141;356;69	ENSP00000005558:M406I;ENSP00000384477:M406I;ENSP00000439188:M356I;ENSP00000435635:M69I	ENSP00000005558:M406I	M	+	3	0	IFRD1	111900104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.833000	0.69349	2.753000	0.94483	0.637000	0.83480	ATG		0.353	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		7	41	0	0	0	1	0	7	41					A	112112868	G	A	112112868	3	1	295	1	0	0	0	0	1	0	0	0	7553	1319	46	2	1260	2	IFRD1	7	112112868	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	84977974	112112868	47025795	12	5180											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	35	0	0	0	1	0	5	35					T	140453136	A	T	140453136	3	4	295	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-EM-A4FV-01A-11D-A257-08	28340268	140453136	18685527	13	5181											
ZNF467	168544	broad.mit.edu	37	7	149462027	149462027	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:149462027G>A	ENST00000302017.3	-	5	1977	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAAGCTGCGGGCGCAGACG	0.701																																						uc003wgd.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(1564-1566)Cgc>Tgc		Homo sapiens zinc finger protein 467 (ZNF467), mRNA.							32	38	36					7																	149462027		2195	4293	6488	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462027G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1564C>T	7.37:g.149462027G>A	ENSP00000304769:p.Arg522Cys		Somatic				ZNF467_uc003wgc.3_Intron	p.R522C	NM_207336	NP_997219	WXS	Illumina GAIIx	Phase_I	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		4	1705	-	Melanoma(164;0.165)|Ovarian(565;0.177)		522						Missense_Mutation	SNP	ENST00000302017.3	37	c.1564C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542809	0.65198	.	.	ENSG00000181444	ENST00000302017	T	0.16196	2.36	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.276112	0.19252	U	0.118891	T	0.38081	0.1027	M	0.72894	2.215	0.45648	D	0.998579	D	0.89917	1.0	D	0.75484	0.986	T	0.18650	-1.0330	10	0.87932	D	0	-11.9164	10.3651	0.44019	0.0:0.0:0.6817:0.3183	.	522	Q7Z7K2	ZN467_HUMAN	C	522	ENSP00000304769:R522C	ENSP00000304769:R522C	R	-	1	0	ZNF467	149092960	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	2.044000	0.41241	1.989000	0.58080	0.462000	0.41574	CGC		0.701	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		5	18	0	0	0	1	0	5	18					A	149462027	G	A	149462027	3	1	295	1	0	0	0	0	1	0	0	0	17924	1116	39	1	227	1	ZNF467	7	149462027	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	9008891	149462027	9676636	14	5182											
GTPBP4	23560	broad.mit.edu	37	10	1046799	1046799	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:1046799C>T	ENST00000360803.4	+	7	919	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.F232F|GTPBP4_ENST00000538293.1_Silent_p.F163F	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	279	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GACCTCTCTTCATCAACAAGG	0.463																																						uc001ift.3																			0		p.L278L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(835-837)ttC>ttT		Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.							222	215	218					10																	1046799		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046799C>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.837C>T	10.37:g.1046799C>T			Somatic				GTPBP4_uc010qac.1_Silent_p.F70F|GTPBP4_uc010qad.2_Silent_p.F163F|GTPBP4_uc010qae.2_Silent_p.F232F	p.F279F	NM_012341	NP_036473	WXS	Illumina GAIIx	Phase_I	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	6	908	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	279					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.837C>T	CCDS31132.1																																																																																				0.463	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		6	75	0	0	0	1	0	6	75					T	1046799	C	T	1046799	2	4	295	1	0	0	0	0	0	0	0	1	6882	825	29	2		2	GTPBP4	10	1046799	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		1046799	134487948	15	5183											
KIAA0913	23053	broad.mit.edu	37	10	75554317	75554317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:75554317delC	ENST00000605216.1	+	14	3030	c.2813delC	c.(2812-2814)tccfs	p.S938fs	ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S943fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S905fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S938fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.S943fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	938							zinc ion binding (GO:0008270)										CCCACAGGTTCCCGGCCCCCA	0.498																																						uc001jvj.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19						c.(2812-2814)tccfs		Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.							34	34	34					10																	75554317		1906	4104	6010	SO:0001589	frameshift_variant	23053						zinc ion binding	g.chr10:75554317delC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2813delC	10.37:g.75554317delC	ENSP00000474748:p.Ser938fs		Somatic				KIAA0913_uc001jve.3_Frame_Shift_Del_p.S943fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.S366fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.S361fs	p.S938fs	NM_001242488	NP_001229417	WXS	Illumina GAIIx	Phase_I	A7E2V4	K0913_HUMAN			13	3068	+	Prostate(51;0.0112)		938					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37	c.2813delC																																																																																					0.498	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		2	4						2	4	---	---	---	---	-	75554317	C	-	75554317	7	5	295	1	0	1	0	1	0	0	0	0	8200	855	30	0	2882	0	KIAA0913	10	75554317	Frame_Shift_Del	DEL	C	TCGA-EM-A4FV-01A-11D-A257-08	74507518	75554317	59980430	16	5184											
OR8D1	283159	broad.mit.edu	37	11	124180036	124180036	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr11:124180036C>T	ENST00000357821.2	-	1	697	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTAGGGTGGGCACCAAGGTGT	0.498																																						uc010sag.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(625-627)gtG>gtA		Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.							57	45	49					11																	124180036		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180036C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.627G>A	11.37:g.124180036C>T			Somatic					p.V209V	NM_001002917	NP_001002917	WXS	Illumina GAIIx	Phase_I	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	627	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	209					B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.627G>A	CCDS31706.1																																																																																				0.498	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		5	32	0	0	0	1	0	5	32					T	124180036	C	T	124180036	2	4	295	1	0	0	0	0	0	0	0	1	11231	697	25	2		2	OR8D1	11	124180036	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		124180036	10826480	17	5185											
KRAS	3845	broad.mit.edu	37	12	25380277	25380278	+	Missense_Mutation	DNP	GA	GA	TT	rs121913238|rs397517037		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380277_25380278GA>TT	ENST00000256078.4	-	3	243_244	c.180_181TC>AA	c.(178-183)ggTCaa>ggAAaa	p.Q61K	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(32)|p.Q61E(10)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTGT	0.411	Q61K(CALU6_LUNG)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	Q61K(CALU6_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	43	Substitution - Missense(42)|Substitution - coding silent(1)	p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(3)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(178-183)ggtcaa>ggAAaa		Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.																																				SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380277_25380278GA>TT	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.180_181delinsTT	12.37:g.25380277_25380278delinsTT	ENSP00000256078:p.Gln61Lys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_uc001rgq.1_Missense_Mutation_p.Q61K	p.Q61K	NM_033360	NP_203524	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	361_362	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	DNP	ENST00000256078.4	37	c.180_181TC>AA	CCDS8703.1																																																																																				0.411	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		10	24	0	0	0	1	0	10	24					TT	25380278	GA	TT	25380277	3	4	295	1	0	0	0	0	1	0	0	0	8438	1299	45	4	521	4	KRAS	12	25380277	Missense_Mutation	DNP	GA	TCGA-EM-A4FV-01A-11D-A257-08		25380277	108471618	18	5186											
ANAPC7	51434	broad.mit.edu	37	12	110812081	110812081	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:110812081C>T	ENST00000455511.3	-	11	1668	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCGTGGGACTCTCCTCCTTCT	0.577																																						uc001tqo.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1666-1668)gaG>gaA		Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.							134	104	114					12																	110812081		2203	4300	6503	SO:0001819	synonymous_variant	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110812081C>T	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1668G>A	12.37:g.110812081C>T			Somatic					p.E556E	NM_016238	NP_057322	WXS	Illumina GAIIx	Phase_I	Q9UJX3	APC7_HUMAN			10	1669	-			556					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	ENST00000455511.3	37	c.1668G>A	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079000	0.20227	.	.	ENSG00000196510	ENST00000552087	.	.	.	5.88	5.88	0.94601	.	0.089296	0.85682	N	0.000000	T	0.36110	0.0955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20075	-1.0286	6	0.06365	T	0.9	-29.7449	11.1882	0.48669	0.0:0.8901:0.0:0.1099	.	.	.	.	K	106	.	ENSP00000450293:E106K	E	-	1	0	ANAPC7	109296464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.476000	0.45171	2.797000	0.96272	0.561000	0.74099	GAG		0.577	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		3	28	0	0	0	1	0	3	28					T	110812081	C	T	110812081	2	4	295	1	0	0	0	0	0	0	0	1	606	912	32	2		2	ANAPC7	12	110812081	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	85431804	110812081	23039814	19	5187											
TMEM132D	121256	broad.mit.edu	37	12	130184920	130184920	+	Missense_Mutation	SNP	G	G	A	rs138159153		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:130184920G>A	ENST00000422113.2	-	2	729	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	135					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R135R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGTCCCGCAGGATGTGG	0.537													G|||	1	0.000199681	8e-04	0	5008	,	,		16904	0		0	False		,,,				2504	0					uc009zyl.1																			1	Substitution - coding silent(1)	p.R135R(2)	lung(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(403-405)Cgg>Tgg		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							43	43	43					12																	130184920		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184920G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.403C>T	12.37:g.130184920G>A	ENSP00000408581:p.Arg135Trp		Somatic					p.R135W	NM_133448	NP_597705	WXS	Illumina GAIIx	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	1	731	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	135					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.403C>T	CCDS9266.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.19	1.862136	0.32884	.	.	ENSG00000151952	ENST00000422113	T	0.43688	0.94	5.33	3.29	0.37713	.	0.724775	0.12196	N	0.490699	T	0.35740	0.0942	L	0.55481	1.735	0.27218	N	0.959742	D	0.60160	0.987	P	0.46825	0.528	T	0.20907	-1.0261	9	.	.	.	-20.9295	11.7955	0.52098	0.0:0.0:0.4054:0.5946	.	135	Q14C87	T132D_HUMAN	W	135	ENSP00000408581:R135W	.	R	-	1	2	TMEM132D	128750873	0.988000	0.35896	0.978000	0.43139	0.536000	0.34869	3.137000	0.50562	1.197000	0.43143	0.555000	0.69702	CGG		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	23	0	0	0	1	0	7	23					A	130184920	G	A	130184920	3	1	295	1	0	0	0	0	1	0	0	0	16044	1086	38	1	2928	1	TMEM132D	12	130184920	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	19372839	130184920	3666975	20	5188											
SLITRK6	84189	broad.mit.edu	37	13	86370229	86370229	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:86370229C>T	ENST00000400286.2	-	2	1013	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	139					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363																																						uc001vll.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(415-417)Gaa>Aaa		Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.							111	104	106					13																	86370229		1837	4083	5920	SO:0001583	missense	84189					integral to membrane		g.chr13:86370229C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.415G>A	13.37:g.86370229C>T	ENSP00000383143:p.Glu139Lys		Somatic				SLITRK6_uc021rla.1_Missense_Mutation_p.E139K	p.E139K	NM_032229	NP_115605	WXS	Illumina GAIIx	Phase_I	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	1	874	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		139					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.415G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472755	0.84640	.	.	ENSG00000184564	ENST00000400286	T	0.55052	0.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	N	0.21448	0.665	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.61845	-0.6979	10	0.49607	T	0.09	-20.2109	19.4432	0.94831	0.0:1.0:0.0:0.0	.	139	Q9H5Y7	SLIK6_HUMAN	K	139	ENSP00000383143:E139K	ENSP00000383143:E139K	E	-	1	0	SLITRK6	85268230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.363	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		11	94	0	0	0	1	0	11	94					T	86370229	C	T	86370229	3	4	295	1	0	0	0	0	1	0	0	0	14747	864	30	2	2114	2	SLITRK6	13	86370229	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		86370229	28799649	21	5189											
CYTH1	9267	broad.mit.edu	37	17	76697789	76697789	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:76697789T>A	ENST00000446868.3	-	6	471	c.401A>T	c.(400-402)cAt>cTt	p.H134L	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.H75L|CYTH1_ENST00000591455.1_Missense_Mutation_p.H134L|CYTH1_ENST00000361101.4_Missense_Mutation_p.H134L|CYTH1_ENST00000589297.1_Missense_Mutation_p.H75L			Q15438	CYH1_HUMAN	cytohesin 1	134	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGTGAACTCATGCAGCTCCAC	0.463																																						uc021ueg.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(400-402)cAt>cTt		Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.							153	153	153					17																	76697789		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76697789T>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.401A>T	17.37:g.76697789T>A	ENSP00000389095:p.His134Leu		Somatic				CYTH1_uc002jvw.3_Missense_Mutation_p.H134L|CYTH1_uc010wtw.1_Missense_Mutation_p.H75L|CYTH1_uc010wtx.1_Missense_Mutation_p.H75L	p.H134L	NM_004762	NP_004753	WXS	Illumina GAIIx	Phase_I	Q15438	CYH1_HUMAN			5	472	-			134			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.401A>T		.	.	.	.	.	.	.	.	.	.	T	15.48	2.847394	0.51164	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000434577;ENST00000416418	T;T	0.52754	0.65;0.65	4.95	4.95	0.65309	SEC7-like (4);	0.092214	0.85682	D	0.000000	T	0.47248	0.1435	L	0.49126	1.545	0.80722	D	1	B;P	0.39520	0.115;0.676	B;P	0.45712	0.208;0.491	T	0.34800	-0.9814	10	0.09338	T	0.73	.	14.6307	0.68653	0.0:0.0:0.0:1.0	.	134;134	Q15438;Q15438-2	CYH1_HUMAN;.	L	134;134;75;75;134;145;136	ENSP00000389095:H134L;ENSP00000354398:H134L	ENSP00000262763:H134L	H	-	2	0	CYTH1	74209384	1.000000	0.71417	0.370000	0.25965	0.518000	0.34316	7.928000	0.87587	1.842000	0.53543	0.460000	0.39030	CAT		0.463	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		6	83	0	0	0	1	0	6	83					A	76697789	T	A	76697789	3	1	295	1	0	0	0	0	1	0	0	0	4203	1464	51	5	827	5	CYTH1	17	76697789	Missense_Mutation	SNP	T	TCGA-EM-A4FV-01A-11D-A257-08		76697789	4497421	22	5190											
MCOLN1	57192	broad.mit.edu	37	19	7595248	7595248	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:7595248C>T	ENST00000264079.6	+	12	1561	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	479					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGTTCGCCGCCATGCAGGCG	0.602																																						uc002mgo.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1435-1437)gCc>gTc		Homo sapiens mucolipin 1 (MCOLN1), mRNA.							227	214	219					19																	7595248		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595248C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1436C>T	19.37:g.7595248C>T	ENSP00000264079:p.Ala479Val		Somatic				MCOLN1_uc002mgp.3_Missense_Mutation_p.A444V	p.A479V	NM_020533	NP_065394	WXS	Illumina GAIIx	Phase_I	Q9GZU1	MCLN1_HUMAN			11	1577	+			479					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1436C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170020	0.38315	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.84370	-1.84	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.173686	0.51477	D	0.000093	T	0.77644	0.4161	N	0.24115	0.695	0.30429	N	0.777311	B;P	0.35383	0.126;0.498	B;B	0.40329	0.113;0.326	T	0.74785	-0.3547	10	0.27082	T	0.32	.	11.508	0.50479	0.1792:0.8208:0.0:0.0	.	444;479	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	V	479;444	ENSP00000264079:A479V	ENSP00000264079:A479V	A	+	2	0	MCOLN1	7501248	0.201000	0.23410	0.164000	0.22755	0.892000	0.51952	0.927000	0.28818	2.478000	0.83669	0.563000	0.77884	GCC		0.602	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		14	157	0	0	0	1	0	14	157					T	7595248	C	T	7595248	3	4	295	1	0	0	0	0	1	0	0	0	9395	739	26	2	1482	2	MCOLN1	19	7595248	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		7595248	51533735	23	5191											
COL5A3	50509	broad.mit.edu	37	19	10079134	10079134	+	Missense_Mutation	SNP	G	G	A	rs199706331		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:10079134G>A	ENST00000264828.3	-	59	4326	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCTTCTCCCGGGGGGCCAAT	0.592																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4240-4242)cCg>cTg		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							88	99	96					19																	10079134		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079134G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4241C>T	19.37:g.10079134G>A	ENSP00000264828:p.Pro1414Leu		Somatic					p.P1414L	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		58	4327	-			1414			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4241C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345327	0.41498	.	.	ENSG00000080573	ENST00000264828	D	0.97731	-4.51	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	D	0.96522	0.8865	M	0.86953	2.85	0.80722	D	1	P	0.51653	0.947	B	0.34931	0.192	D	0.96778	0.9573	10	0.62326	D	0.03	.	13.9481	0.64099	0.0:0.0:1.0:0.0	.	1414	P25940	CO5A3_HUMAN	L	1414	ENSP00000264828:P1414L	ENSP00000264828:P1414L	P	-	2	0	COL5A3	9940134	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	7.142000	0.77339	2.132000	0.65825	0.591000	0.81541	CCG		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		15	82	0	0	0	1	0	15	82					A	10079134	G	A	10079134	3	1	295	1	0	0	0	0	1	0	0	0	3698	1116	39	1	1032	1	COL5A3	19	10079134	Missense_Mutation	SNP	G	TCGA-EM-A4FV-01A-11D-A257-08	2483886	10079134	49049849	24	5192											
ZNF565	147929	broad.mit.edu	37	19	36686017	36686017	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:36686017C>T	ENST00000355114.5	-	3	897	c.171G>A	c.(169-171)ctG>ctA	p.L57L	ZNF565_ENST00000392173.2_Silent_p.L17L|ZNF565_ENST00000304116.5_Silent_p.L17L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	57	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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCATTCTTCCAGAGAGAACT	0.443																																						uc002odn.3																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(49-51)ctG>ctA		Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.							138	120	126					19																	36686017		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36686017C>T	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.171G>A	19.37:g.36686017C>T			Somatic				ZNF565_uc010ees.3_5'UTR|ZNF565_uc002odo.3_Silent_p.L17L|ZNF565_uc002odp.1_Silent_p.L17L	p.L17L	NM_152477	NP_689690	WXS	Illumina GAIIx	Phase_I	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		2	159	-	Esophageal squamous(110;0.162)		17					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.51G>A																																																																																					0.443	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		3	49	0	0	0	1	0	3	49					T	36686017	C	T	36686017	2	4	295	1	0	0	0	0	0	0	0	1	17993	581	21	2		2	ZNF565	19	36686017	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	26606883	36686017	22442966	25	5193											
VN1R2	317701	broad.mit.edu	37	19	53762045	53762045	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:53762045C>T	ENST00000341702.3	+	1	501	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	139					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCTTGGTTATCCTATCTAAAA	0.383																																						uc002qbi.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(415-417)atC>atT		Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.							77	80	79					19																	53762045		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762045C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.417C>T	19.37:g.53762045C>T			Somatic					p.I139I	NM_173856	NP_776255	WXS	Illumina GAIIx	Phase_I	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	0	501	+			139					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.417C>T	CCDS12862.1																																																																																				0.383	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		11	36	0	0	0	1	0	11	36					T	53762045	C	T	53762045	2	4	295	1	0	0	0	0	0	0	0	1	17176	845	30	2		2	VN1R2	19	53762045	Silent	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	17076028	53762045	5366938	26	5194											
EIF1AX	1964	broad.mit.edu	37	X	20148726	20148726	+	Splice_Site	SNP	C	C	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:20148726C>G	ENST00000379607.5	-	6	541		c.e6-1		EIF1AX_ENST00000379593.1_Splice_Site	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked						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						TTGATTTTAGCTAAGGACACA	0.313																																						uc004czt.3																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6-1		Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.							143	117	126					X																	20148726		2203	4297	6500	SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148726C>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.338-1G>C	X.37:g.20148726C>G			Somatic					p.A113_splice	NM_001412	NP_001403	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			6	546	-			113					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37	c.338_splice	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742404	0.69418	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1934	0.73063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF1AX	20058647	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.770000	0.74990	2.025000	0.59659	0.594000	0.82650	.		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Intron	7	32	0	0	0	1	0	7	32					G	20148726	C	G	20148726	5	3	295	1	0	0	0	0	0	0	1	0	4992	811	28	4	105	4	EIF1AX	23	20148726	Splice_Site	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08		20148726	135121834	27	5195											
FMR1	2332	broad.mit.edu	37	X	147026458	147026458	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:147026458C>T	ENST00000370475.4	+	15	1669	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000440235.2_Missense_Mutation_p.S161L|FMR1_ENST00000439526.2_Missense_Mutation_p.S491L|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.S493L|FMR1_ENST00000370477.1_Missense_Mutation_p.S481L	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTGGTCATTAGCTCCA	0.493									Fragile X syndrome																													uc010nst.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1540-1542)tCa>tTa		Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.							63	56	58					X																	147026458		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026458C>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1541C>T	X.37:g.147026458C>T	ENSP00000359506:p.Ser514Leu		Somatic				FMR1_uc004fcj.3_Missense_Mutation_p.S491L|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Missense_Mutation_p.S493L|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.S354L|FMR1_uc011mxa.2_Missense_Mutation_p.S161L	p.S514L	NM_002024	NP_002015	WXS	Illumina GAIIx	Phase_I	Q06787	FMR1_HUMAN			14	1770	+	Acute lymphoblastic leukemia(192;6.56e-05)		514			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1541C>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332865	0.81801	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000440235	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.999;0.996	D;D;D;D	0.91635	0.985;0.999;0.997;0.99	T	0.55717	-0.8097	10	0.48119	T	0.1	-18.9429	18.1587	0.89702	0.0:1.0:0.0:0.0	.	161;514;409;491	F8W871;Q06787;Q59GC1;G3V0J0	.;FMR1_HUMAN;.;.	L	493;481;514;491;161	ENSP00000218200:S493L;ENSP00000359508:S481L;ENSP00000359506:S514L;ENSP00000395923:S491L;ENSP00000413764:S161L	ENSP00000218200:S493L	S	+	2	0	FMR1	146834150	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.218000	0.77991	2.512000	0.84698	0.594000	0.82650	TCA		0.493	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		8	21	0	0	0	1	0	8	21					T	147026458	C	T	147026458	3	4	295	1	0	0	0	0	1	0	0	0	5960	838	29	2	1599	2	FMR1	23	147026458	Missense_Mutation	SNP	C	TCGA-EM-A4FV-01A-11D-A257-08	126877732	147026458	8244102	28	5196											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		36	57	0	0	0	1	0	36	57					C	115256529	T	C	115256529	3	2	296	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-EM-A4G1-01A-11D-A257-08		115256529	133994092	1	5197											
ZC3H15	55854	broad.mit.edu	37	2	187351145	187351145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr2:187351145delC	ENST00000337859.6	+	1	263	c.36delC	c.(34-36)agcfs	p.S12fs	ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	12					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CCGGGGGCAGCAAAAAGGCGG	0.612																																						uc002upo.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(34-36)agcfs		Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.							46	62	57					2																	187351145		1894	4096	5990	SO:0001589	frameshift_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187351145delC		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.36delC	2.37:g.187351145delC	ENSP00000338788:p.Ser12fs		Somatic					p.S12fs	NM_018471	NP_060941	WXS	Illumina GAIIx	Phase_I	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		0	261	+			12					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Frame_Shift_Del	DEL	ENST00000337859.6	37	c.36delC	CCDS42791.1																																																																																				0.612	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		2	4						2	4	---	---	---	---	-	187351145	C	-	187351145	7	5	296	1	0	1	0	1	0	0	0	0	17564	709	25	0	38	0	ZC3H15	2	187351145	Frame_Shift_Del	DEL	C	TCGA-EM-A4G1-01A-11D-A257-08		187351145	55848228	2	5198											
RREB1	6239	broad.mit.edu	37	6	7231938	7231938	+	Silent	SNP	C	C	T			TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr6:7231938C>T	ENST00000349384.6	+	10	3920	c.3606C>T	c.(3604-3606)gaC>gaT	p.D1202D	RREB1_ENST00000334984.6_Silent_p.D1202D|RREB1_ENST00000379938.2_Silent_p.D1202D|RREB1_ENST00000379933.3_Silent_p.D1202D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1202					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCGGAGGACAACACTCAGG	0.617																																						uc003mxb.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3604-3606)gaC>gaT		Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.							40	40	40					6																	7231938		2203	4300	6503	SO:0001819	synonymous_variant	6239				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231938C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3606C>T	6.37:g.7231938C>T			Somatic				RREB1_uc021yky.1_Silent_p.D1202D|RREB1_uc003mxc.3_Silent_p.D1202D|RREB1_uc010jnx.3_Silent_p.D1202D|RREB1_uc021ykz.1_Silent_p.D1202D|RREB1_uc021yla.1_Intron	p.D1202D	NM_001003699	NP_001003699	WXS	Illumina GAIIx	Phase_I	Q92766	RREB1_HUMAN			9	4098	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1202					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3606C>T	CCDS34336.1																																																																																				0.617	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			3	30	0	0	0	1	0	3	30					T	7231938	C	T	7231938	2	4	296	1	0	0	0	0	0	0	0	1	13679	477	17	2		2	RREB1	6	7231938	Silent	SNP	C	TCGA-EM-A4G1-01A-11D-A257-08		7231938	163883129	3	5199											
EFCAB1	79645	broad.mit.edu	37	8	49643125	49643125	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4G1-01A-11D-A257-08	TCGA-EM-A4G1-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e39124e5-14b3-4367-8a88-186295c2e0d1	6a761d3f-ebdd-484e-b1c5-b57e4f64bd90	g.chr8:49643125C>T	ENST00000262103.3	-	3	373	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46Q|EFCAB1_ENST00000433756.1_Missense_Mutation_p.R46Q|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343																																						uc003xqo.2																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(292-294)cGa>cAa		Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.							115	103	107					8																	49643125		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49643125C>T		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.293G>A	8.37:g.49643125C>T	ENSP00000262103:p.Arg98Gln		Somatic				EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.R46Q|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	p.R98Q	NM_024593	NP_078869	WXS	Illumina GAIIx	Phase_I	Q9HAE3	EFCB1_HUMAN			2	453	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	98			EF-hand 1.		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.293G>A	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033726	0.93575	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.68331	-0.29;-0.32;-0.29	4.44	4.44	0.53790	EF-hand-like domain (1);	0.060216	0.64402	D	0.000002	T	0.79240	0.4412	M	0.83953	2.67	0.80722	D	1	D;D	0.71674	0.998;0.965	P;P	0.56823	0.807;0.56	T	0.83271	-0.0043	10	0.72032	D	0.01	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	46;98	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	Q	46;98;98;46	ENSP00000400873:R46Q;ENSP00000262103:R98Q;ENSP00000430765:R46Q	ENSP00000262103:R98Q	R	-	2	0	EFCAB1	49805678	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.789000	0.75110	2.441000	0.82636	0.563000	0.77884	CGA		0.343	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		4	17	0	0	0	1	0	4	17					T	49643125	C	T	49643125	3	4	296	1	0	0	0	0	1	0	0	0	4933	884	31	1	358	1	EFCAB1	8	49643125	Missense_Mutation	SNP	C	TCGA-EM-A4G1-01A-11D-A257-08		49643125	96720897	4	5200											
ZSCAN20	7579	broad.mit.edu	37	1	33944900	33944900	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:33944900C>T	ENST00000361328.3	+	2	164	c.11C>T	c.(10-12)gCc>gTc	p.A4V	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A4V|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	4					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)				ATGGCTATGGCCCTGGAATTG	0.512																																						uc001bxj.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(10-12)gCc>gTc		Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.							70	67	68					1																	33944900		1951	4166	6117	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33944900C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.11C>T	1.37:g.33944900C>T	ENSP00000355053:p.Ala4Val		Somatic				ZSCAN20_uc001bxk.2_Missense_Mutation_p.A4V|ZSCAN20_uc009vui.3_Missense_Mutation_p.A4V	p.A4V	NM_145238	NP_660281	WXS	Illumina GAIIx	Phase_I	P17040	ZSC20_HUMAN			1	178	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	4					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.11C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172853	0.38413	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T;T	0.06933	4.36;3.24	5.36	4.41	0.53225	.	0.132612	0.34507	N	0.003920	T	0.15132	0.0365	M	0.88979	2.995	0.09310	N	1	B;B;B	0.19073	0.033;0.011;0.02	B;B;B	0.19946	0.027;0.011;0.008	T	0.13335	-1.0513	10	0.41790	T	0.15	-7.7603	8.5078	0.33197	0.0:0.8895:0.0:0.1105	.	4;4;4	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	V	4	ENSP00000362512:A4V;ENSP00000355053:A4V	ENSP00000324450:A4V	A	+	2	0	ZSCAN20	33717487	0.002000	0.14202	0.054000	0.19295	0.006000	0.05464	0.470000	0.22084	1.407000	0.46875	0.655000	0.94253	GCC		0.512	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		38	56	0	0	0	1	0	38	56					T	33944900	C	T	33944900	3	4	297	1	0	0	0	0	1	0	0	0	18229	739	26	2	13	2	ZSCAN20	1	33944900	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		33944900	215305721	1	5201											
CLCA1	1179	broad.mit.edu	37	1	86959123	86959123	+	Silent	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:86959123C>T	ENST00000234701.3	+	11	1872	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	CLCA1_ENST00000394711.1_Silent_p.I507I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	507					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)		GCACAGTGATCGTGGACAGCA	0.493																																						uc001dlt.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.(1519-1521)atC>atT		Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.							169	135	147					1																	86959123		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959123C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1521C>T	1.37:g.86959123C>T			Somatic				CLCA1_uc001dls.1_Silent_p.I446I	p.I507I	NM_001285	NP_001276	WXS	Illumina GAIIx	Phase_I	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	9	1781	+		Lung NSC(277;0.239)	507					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1521C>T	CCDS709.1																																																																																				0.493	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		8	86	0	0	0	1	0	8	86					T	86959123	C	T	86959123	2	4	297	1	0	0	0	0	0	0	0	1	3457	874	31	1		1	CLCA1	1	86959123	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08	53014223	86959123	162291498	2	5202											
HIGD1A	25994	broad.mit.edu	37	3	42845665	42845665	+	Intron	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr3:42845665C>T	ENST00000321331.7	-	1	96				RP11-70C1.3_ENST00000449063.1_RNA|HIGD1A_ENST00000418900.2_Intron|HIGD1A_ENST00000452906.2_Splice_Site_p.E7K|HIGD1A_ENST00000430190.1_Intron|HIGD1A_ENST00000470543.1_Intron	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A						cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCAACTCACTCCACAAGCTTC	0.672																																						uc010hid.3																			0				lung(1)	1						c.e1+1		Homo sapiens HIG1 hypoxia inducible domain family, member 1A (HIGD1A), transcript variant 1, mRNA.							156	178	171					3																	42845665		2167	4266	6433	SO:0001627	intron_variant	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42845665C>T	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"hypoxia inducible gene 1"		"HIG1 domain family, member 1A"			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.21+262G>A	3.37:g.42845665C>T			Somatic				CCBP2_uc003cmc.1_5'Flank|HIGD1A_uc003cma.4_Intron|HIGD1A_uc003cmb.4_Intron	p.E7_splice	NM_001099668	NP_054775	WXS	Illumina GAIIx	Phase_I	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	1	271	-			0			HIG1.		Q9UFZ2	Splice_Site	SNP	ENST00000321331.7	37	c.20_splice	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678472	0.14841	.	.	ENSG00000181061	ENST00000452906	T	0.37058	1.22	4.16	1.3	0.21679	.	.	.	.	.	T	0.13798	0.0334	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32745	-0.9895	8	0.06236	T	0.91	.	4.7409	0.13012	0.0:0.6124:0.1794:0.2082	.	7	Q9Y241-2	.	K	7	ENSP00000398064:E7K	ENSP00000398064:E7K	E	-	1	0	HIGD1A	42820669	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.070000	0.14573	0.123000	0.18342	0.563000	0.77884	GAG		0.672	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		46	109	0	0	0	1	0	46	109					T	42845665	C	T	42845665	1	4	297	0	1	0	0	0	0	0	0	0	7106	869	30	2		2	HIGD1A	3	42845665	Intron	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		42845665	155176765	3	5203											
ARHGAP18	93663	broad.mit.edu	37	6	129920497	129920497	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr6:129920497G>A	ENST00000368149.2	-	12	1665	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	ARHGAP18_ENST00000463225.1_5'Flank	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AATAAACTTGGGAATCTATAG	0.294																																						uc003qbr.3																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1576-1578)cCc>cTc		Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.							65	63	64					6																	129920497		2201	4298	6499	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129920497G>A	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1577C>T	6.37:g.129920497G>A	ENSP00000357131:p.Pro526Leu		Somatic				ARHGAP18_uc011ebw.2_Missense_Mutation_p.P526L	p.P526L	NM_033515	NP_277050	WXS	Illumina GAIIx	Phase_I	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	11	1666	-			526						Missense_Mutation	SNP	ENST00000368149.2	37	c.1577C>T	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669376	0.88348	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.69307	0.894;0.963	T	0.81690	-0.0818	8	.	.	.	.	18.8962	0.92424	0.0:0.0:1.0:0.0	.	526;526	A9UK01;Q8N392	.;RHG18_HUMAN	L	481;526	.	.	P	-	2	0	ARHGAP18	129962190	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.980000	0.93460	2.439000	0.82584	0.650000	0.86243	CCC		0.294	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		12	36	0	0	0	1	0	12	36					A	129920497	G	A	129920497	3	1	297	1	0	0	0	0	1	0	0	0	868	1232	43	2	430	2	ARHGAP18	6	129920497	Missense_Mutation	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		129920497	41194570	4	5204											
ZMIZ2	83637	broad.mit.edu	37	7	44805072	44805072	+	Silent	SNP	C	C	G			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:44805072C>G	ENST00000309315.4	+	16	2259	c.2136C>G	c.(2134-2136)ctC>ctG	p.L712L	ZMIZ2_ENST00000441627.1_Silent_p.L712L|ZMIZ2_ENST00000265346.7_Silent_p.L686L|ZMIZ2_ENST00000433667.1_Silent_p.L680L|ZMIZ2_ENST00000413916.1_Silent_p.L654L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	712					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCACGTGCTCATGCCCAGCG	0.701																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2134-2136)ctC>ctG		Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.							21	24	23					7																	44805072		2062	4210	6272	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805072C>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2136C>G	7.37:g.44805072C>G			Somatic				ZMIZ2_uc003tlq.3_Silent_p.L654L|ZMIZ2_uc003tls.3_Silent_p.L686L|ZMIZ2_uc003tlt.3_Silent_p.L335L|ZMIZ2_uc010kyj.3_Silent_p.L234L|ZMIZ2_uc003tlu.3_5'Flank	p.L712L	NM_031449	NP_113637	WXS	Illumina GAIIx	Phase_I	Q8NF64	ZMIZ2_HUMAN			15	2259	+			712					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2136C>G	CCDS43576.1																																																																																				0.701	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		13	23	0	0	0	1	0	13	23					G	44805072	C	G	44805072	2	3	297	1	0	0	0	0	0	0	0	1	17694	813	29	4		4	ZMIZ2	7	44805072	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		44805072	114333591	5	5205											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	53	0	0	0	1	0	34	53					T	140453136	A	T	140453136	3	4	297	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25G-01A-11D-A16O-08	95648064	140453136	18685527	6	5206											
PKHD1L1	93035	broad.mit.edu	37	8	110396357	110396357	+	Splice_Site	SNP	G	G	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr8:110396357G>A	ENST00000378402.5	+	5	579		c.e5+1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						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)			GGAACTCCAGGTCTGTTATAT	0.279										HNSCC(38;0.096)																												uc003yne.3																			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.e5+1		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							134	132	132					8																	110396357		1814	4070	5884	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110396357G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.475+1G>A	8.37:g.110396357G>A		HNSCC(38;0.096)	Somatic					p.G159_splice	NM_177531	NP_803875	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		5	579	+			159			IPT/TIG 2.		Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.475_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554352	0.86231	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110465533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.368000	0.66133	2.821000	0.97095	0.650000	0.86243	.		0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	171	0	0	0	1	0	8	171					A	110396357	G	A	110396357	5	1	297	1	0	0	0	0	0	0	1	0	11972	1275	44	2	494	2	PKHD1L1	8	110396357	Splice_Site	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		110396357	35967665	7	5207											
MPDZ	8777	broad.mit.edu	37	9	13217196	13217196	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr9:13217196A>G	ENST00000319217.7	-	9	1431	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	MPDZ_ENST00000381022.2_Missense_Mutation_p.I395T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I395T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I395T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I395T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I395T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	395	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTATCTCCAATGTAGCCAGC	0.303																																						uc010mhy.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(1183-1185)aTt>aCt		Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.							63	59	60					9																	13217196		1800	4053	5853	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13217196A>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1184T>C	9.37:g.13217196A>G	ENSP00000320006:p.Ile395Thr		Somatic				MPDZ_uc010mhz.3_Missense_Mutation_p.I395T|MPDZ_uc011lmn.2_Missense_Mutation_p.I395T|MPDZ_uc003zlb.4_Missense_Mutation_p.I395T|MPDZ_uc010mia.1_Missense_Mutation_p.I395T	p.I395T	NM_003829	NP_003820	WXS	Illumina GAIIx	Phase_I	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	7	1241	-			395			PDZ 3.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1184T>C		.	.	.	.	.	.	.	.	.	.	A	15.02	2.709749	0.48517	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	6.17	6.17	0.99709	.	0.000000	0.45361	D	0.000375	T	0.24005	0.0581	N	0.12182	0.205	0.80722	D	1	P;P;D	0.53745	0.916;0.897;0.962	P;P;P	0.49799	0.622;0.488;0.488	T	0.03969	-1.0988	10	0.42905	T	0.14	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	395;395;395	B7ZMI4;O75970-3;O75970-2	.;.;.	T	395	ENSP00000320006:I395T;ENSP00000439807:I395T;ENSP00000370410:I395T;ENSP00000444151:I395T;ENSP00000415208:I395T;ENSP00000370403:I395T;ENSP00000446358:I395T	ENSP00000320006:I395T	I	-	2	0	MPDZ	13207196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.554000	0.90689	2.371000	0.80710	0.533000	0.62120	ATT		0.303	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		15	17	0	0	0	1	0	15	17					G	13217196	A	G	13217196	3	3	297	1	0	0	0	0	1	0	0	0	9722	101	4	3	5093	3	MPDZ	9	13217196	Missense_Mutation	SNP	A	TCGA-ET-A25G-01A-11D-A16O-08		13217196	127996235	8	5208											
GPR120	338557	broad.mit.edu	37	10	95347003	95347003	+	Silent	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr10:95347003C>T	ENST00000371483.4	+	4	827	c.771C>T	c.(769-771)ctC>ctT	p.L257L	FFAR4_ENST00000371481.4_Silent_p.L241L|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	257					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										GGAAGAGGCTCACGGTAAGCC	0.567																																						uc010qnt.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						c.(769-771)ctC>ctT		Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.							74	71	72					10																	95347003		2203	4300	6503	SO:0001819	synonymous_variant	338557				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	g.chr10:95347003C>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.771C>T	10.37:g.95347003C>T			Somatic				O3FAR1_uc010qnu.2_Silent_p.L241L	p.L257L	NM_181745	NP_859529	WXS	Illumina GAIIx	Phase_I	Q5NUL3	O3FA1_HUMAN			3	827	+			257					Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.771C>T	CCDS31248.1																																																																																				0.567	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		4	68	0	0	0	1	0	4	68					T	95347003	C	T	95347003	2	4	297	1	0	0	0	0	0	0	0	1	6636	813	29	2		2	GPR120	10	95347003	Silent	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		95347003	40187744	9	5209											
C11orf63	79864	broad.mit.edu	37	11	122805462	122805462	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr11:122805462C>T	ENST00000531316.1	+	4	1405	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I	C11orf63_ENST00000227349.2_Missense_Mutation_p.T438I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	438					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTCAAAGAAACCTCCAATACA	0.398																																						uc001pym.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1312-1314)aCc>aTc		Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.							82	82	82					11																	122805462		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122805462C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1313C>T	11.37:g.122805462C>T	ENSP00000431669:p.Thr438Ile		Somatic					p.T438I	NM_024806	NP_079082	WXS	Illumina GAIIx	Phase_I	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	4	1610	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	438					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1313C>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550936	0.27739	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.24723	1.84;1.84	5.81	1.53	0.23141	.	0.816764	0.11065	N	0.603586	T	0.26629	0.0651	M	0.70595	2.14	0.09310	N	1	B	0.29432	0.244	B	0.27715	0.082	T	0.28744	-1.0034	10	0.87932	D	0	-2.0069	6.5769	0.22571	0.4654:0.4516:0.0:0.083	.	438	Q6NUN7	CK063_HUMAN	I	438	ENSP00000227349:T438I;ENSP00000431669:T438I	ENSP00000227349:T438I	T	+	2	0	C11orf63	122310672	0.000000	0.05858	0.049000	0.19019	0.291000	0.27294	-0.169000	0.09911	0.745000	0.32763	0.650000	0.86243	ACC		0.398	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		30	40	0	0	0	1	0	30	40					T	122805462	C	T	122805462	3	4	297	1	0	0	0	0	1	0	0	0	1654	507	18	2	1391	2	C11orf63	11	122805462	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		122805462	12201054	10	5210											
PABPC3	5042	broad.mit.edu	37	13	25670442	25670442	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr13:25670442C>T	ENST00000281589.3	+	1	143	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCCGGCAGGGCCCATCCTCTC	0.627																																						uc001upy.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(106-108)Ccc>Tcc		Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.							79	77	78					13																	25670442		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670442C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.106C>T	13.37:g.25670442C>T	ENSP00000281589:p.Pro36Ser		Somatic					p.P36S	NM_030979	NP_112241	WXS	Illumina GAIIx	Phase_I	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	0	167	+		Lung SC(185;0.0225)|Breast(139;0.0602)	36			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.106C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152239	0.38021	.	.	ENSG00000151846	ENST00000281589	T	0.16897	2.31	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.38164	U	0.001785	T	0.19765	0.0475	L	0.52011	1.625	0.37799	D	0.927644	P	0.42735	0.788	P	0.49085	0.6	T	0.05971	-1.0853	10	0.46703	T	0.11	.	6.848	0.23998	0.0:0.9999:0.0:1.0E-4	.	36	Q9H361	PABP3_HUMAN	S	36	ENSP00000281589:P36S	ENSP00000281589:P36S	P	+	1	0	PABPC3	24568442	1.000000	0.71417	0.049000	0.19019	0.022000	0.10575	2.562000	0.45914	0.558000	0.29135	0.305000	0.20034	CCC		0.627	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		30	45	0	0	0	1	0	30	45					T	25670442	C	T	25670442	3	4	297	1	0	0	0	0	1	0	0	0	11365	739	26	2	108	2	PABPC3	13	25670442	Missense_Mutation	SNP	C	TCGA-ET-A25G-01A-11D-A16O-08		25670442	89499436	11	5211											
COL6A2	1292	broad.mit.edu	37	21	47538972	47538972	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr21:47538972G>A	ENST00000300527.4	+	14	1312	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	COL6A2_ENST00000409416.1_Missense_Mutation_p.G403E|COL6A2_ENST00000357838.4_Missense_Mutation_p.G403E|COL6A2_ENST00000310645.5_Missense_Mutation_p.G403E|COL6A2_ENST00000397763.1_Missense_Mutation_p.G403E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	403	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	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)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGCCCCAGGAAGTCCTGGT	0.677																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1207-1209)gGa>gAa		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.							46	41	43					21																	47538972		2200	4298	6498	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47538972G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1208G>A	21.37:g.47538972G>A	ENSP00000300527:p.Gly403Glu		Somatic				COL6A2_uc002zhz.1_Missense_Mutation_p.G403E|COL6A2_uc002zhy.1_Missense_Mutation_p.G403E	p.G403E	NM_001849	NP_001840	WXS	Illumina GAIIx	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	13	1290	+	Breast(49;0.245)		403			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1208G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021834	0.35701	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.98133	4.155	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	0.97258	0.9902	10	0.87932	D	0	-7.8436	16.3441	0.83117	0.0:0.0:1.0:0.0	.	403;403;403	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	E	403	ENSP00000300527:G403E;ENSP00000350497:G403E;ENSP00000312529:G403E;ENSP00000387115:G403E;ENSP00000380870:G403E	ENSP00000300527:G403E	G	+	2	0	COL6A2	46363400	1.000000	0.71417	0.160000	0.22671	0.151000	0.21798	7.186000	0.77722	2.083000	0.62718	0.591000	0.81541	GGA		0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			10	17	0	0	0	1	0	10	17					A	47538972	G	A	47538972	3	1	297	1	0	0	0	0	1	0	0	0	3700	1174	41	2	1258	2	COL6A2	21	47538972	Missense_Mutation	SNP	G	TCGA-ET-A25G-01A-11D-A16O-08		47538972	590923	12	5212											
SCMH1	22955	broad.mit.edu	37	1	41582675	41582675	+	Silent	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:41582675C>T	ENST00000326197.7	-	6	689	c.390G>A	c.(388-390)cgG>cgA	p.R130R	SCMH1_ENST00000397174.2_Silent_p.R110R|SCMH1_ENST00000337495.5_Silent_p.R140R|SCMH1_ENST00000402904.2_Silent_p.R130R|SCMH1_ENST00000397171.2_Silent_p.R69R|SCMH1_ENST00000372597.1_Silent_p.R83R|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Silent_p.R69R|SCMH1_ENST00000361705.3_Silent_p.R83R|SCMH1_ENST00000372596.1_Silent_p.R69R|SCMH1_ENST00000361191.5_Silent_p.R69R					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACGCATTCAGCCGAAATCCTG	0.478																																						uc001cgo.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(388-390)cgG>cgA		Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.							80	69	73					1																	41582675		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41582675C>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"Sterile alpha motif (SAM) domain containing"	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.390G>A	1.37:g.41582675C>T			Somatic				SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Silent_p.R69R|SCMH1_uc001cgr.3_Silent_p.R69R|SCMH1_uc001cgq.3_Silent_p.R83R|SCMH1_uc001cgs.3_Silent_p.R140R|SCMH1_uc001cgt.3_Silent_p.R69R|SCMH1_uc010ojs.1_Non-coding_Transcript	p.R130R	NM_001031694	NP_001165692	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			6	759	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	130						Silent	SNP	ENST00000326197.7	37	c.390G>A	CCDS30688.1																																																																																				0.478	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			3	45	0	0	0	1	0	3	45					T	41582675	C	T	41582675	2	4	298	1	0	0	0	0	0	0	0	1	13908	726	26	2		2	SCMH1	1	41582675	Silent	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		41582675	207667946	1	5213											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		56	138	0	0	0	1	0	56	138					T	115256530	G	T	115256530	3	4	298	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08	73673855	115256530	133994091	2	5214											
LAMC1	3915	broad.mit.edu	37	1	183072526	183072526	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:183072526C>G	ENST00000258341.4	+	2	739	c.482C>G	c.(481-483)gCc>gGc	p.A161G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	161	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	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)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAGAGCTTTGCCATTTACAAG	0.512																																						uc001gpy.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(481-483)gCc>gGc		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						98	104	102					1																	183072526		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183072526C>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.482C>G	1.37:g.183072526C>G	ENSP00000258341:p.Ala161Gly		Somatic				LAMC1_uc001gpx.3_Missense_Mutation_p.A161G	p.A161G	NM_002293	NP_002284	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			1	739	+			161			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.482C>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128598	0.77549	.	.	ENSG00000135862	ENST00000258341	T	0.76316	-1.01	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.050215	0.85682	D	0.000000	D	0.83013	0.5162	M	0.83012	2.62	0.80722	D	1	P;P	0.44380	0.834;0.506	P;B	0.45610	0.487;0.398	T	0.82384	-0.0484	10	0.28530	T	0.3	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	161;161	P11047;Q6NVY8	LAMC1_HUMAN;.	G	161	ENSP00000258341:A161G	ENSP00000258341:A161G	A	+	2	0	LAMC1	181339149	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.556000	0.82233	2.501000	0.84356	0.655000	0.94253	GCC		0.512	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		61	104	0	0	0	1	0	61	104					G	183072526	C	G	183072526	3	3	298	1	0	0	0	0	1	0	0	0	8614	739	26	4	488	4	LAMC1	1	183072526	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08	67815996	183072526	66178095	3	5215											
TET3	200424	broad.mit.edu	37	2	74274199	74274199	+	Silent	SNP	T	T	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr2:74274199T>C	ENST00000409262.3	+	1	750	c.750T>C	c.(748-750)ccT>ccC	p.P250P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	250					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						GCCCCCTTCCTGAGGCCTTGT	0.602																																						uc002skb.4																			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.(748-750)ccT>ccC		Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.							54	56	55					2																	74274199		2002	4164	6166	SO:0001819	synonymous_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.chr2:74274199T>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.750T>C	2.37:g.74274199T>C			Somatic				TET3_uc010fez.2_Silent_p.P250P	p.P250P	NM_144993	NP_659430	WXS	Illumina GAIIx	Phase_I	O43151	TET3_HUMAN			0	750	+			250					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.750T>C	CCDS46339.1																																																																																				0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	64	0	0	0	1	0	3	64					C	74274199	T	C	74274199	2	2	298	1	0	0	0	0	0	0	0	1	15768	1567	55	3		3	TET3	2	74274199	Silent	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		74274199	168925174	4	5216											
PCDHA6	56142	broad.mit.edu	37	5	140209539	140209539	+	Silent	SNP	G	G	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr5:140209539G>A	ENST00000529310.1	+	1	1977	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_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	621	Cadherin 6. {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)			CTCGCTTCCCGTTTCGCGTGG	0.657																																						uc003lho.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1861-1863)ccG>ccA		Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.							72	76	75					5																	140209539		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140209539G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1863G>A	5.37:g.140209539G>A			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P	p.P621P	NM_018909	NP_061732	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1890	+			632			Cadherin 6.		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1863G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		32	55	0	0	0	1	0	32	55					A	140209539	G	A	140209539	2	1	298	1	0	0	0	0	0	0	0	1	11528	1132	40	1		1	PCDHA6	5	140209539	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		140209539	40705721	5	5217											
CCDC129	223075	broad.mit.edu	37	7	31683024	31683024	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:31683024G>T	ENST00000407970.3	+	11	2078	c.2040G>T	c.(2038-2040)agG>agT	p.R680S	CCDC129_ENST00000319386.3_Missense_Mutation_p.R532S|CCDC129_ENST00000409210.1_Missense_Mutation_p.R588S|CCDC129_ENST00000451887.2_Missense_Mutation_p.R706S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	680										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAAGTCAAGGTCTGGTACTT	0.483																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2116-2118)agG>agT		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							76	73	74					7																	31683024		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683024G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2040G>T	7.37:g.31683024G>T	ENSP00000384416:p.Arg680Ser		Somatic				CCDC129_uc011kad.1_Missense_Mutation_p.R690S|CCDC129_uc003tcj.1_Missense_Mutation_p.R680S|CCDC129_uc003tci.1_Missense_Mutation_p.R531S|CCDC129_uc003tck.1_Missense_Mutation_p.R588S	p.R706S	NM_194300	NP_919276	WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			10	2130	+			680					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2118G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334059	0.24253	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20738	2.05;2.33;2.31;2.06	4.89	-2.54	0.06307	.	1.488580	0.04272	N	0.342264	T	0.15089	0.0364	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.17268	0.021;0.021;0.021;0.021	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.26121	-1.0112	10	0.13853	T	0.58	-10.7831	4.6073	0.12383	0.4233:0.3041:0.2726:0.0	.	706;690;680;532	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	S	532;680;706;690;588	ENSP00000313062:R532S;ENSP00000384416:R680S;ENSP00000395835:R706S;ENSP00000387214:R588S	ENSP00000313062:R532S	R	+	3	2	CCDC129	31649549	0.000000	0.05858	0.000000	0.03702	0.503000	0.33858	-0.296000	0.08287	-0.086000	0.12550	0.655000	0.94253	AGG		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		25	29	0	0	0	1	0	25	29					T	31683024	G	T	31683024	3	4	298	1	0	0	0	0	1	0	0	0	2764	1252	44	4	2078	4	CCDC129	7	31683024	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		31683024	127455639	6	5218											
ZFHX4	79776	broad.mit.edu	37	8	77768323	77768323	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:77768323C>T	ENST00000521891.2	+	10	9614	c.9166C>T	c.(9166-9168)Cgg>Tgg	p.R3056W	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3011W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3011W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3030W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3011	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCACGGTTCGGCAGCTGAT	0.507										HNSCC(33;0.089)																												uc003yau.2																			0		p.D3056E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9166-9168)Cgg>Tgg		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							104	104	104					8																	77768323		2012	4177	6189	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768323C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9166C>T	8.37:g.77768323C>T	ENSP00000430497:p.Arg3056Trp	HNSCC(33;0.089)	Somatic				ZFHX4_uc003yaw.1_Missense_Mutation_p.R3011W	p.R3056W	NM_024721	NP_078997	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	9553	+			3011			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9166C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750699	0.31046	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57436	0.4;0.46;0.42;0.4	5.33	3.51	0.40186	.	0.000000	0.37483	U	0.002078	T	0.70133	0.3189	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.73304	-0.4025	10	0.72032	D	0.01	.	13.8512	0.63499	0.464:0.536:0.0:0.0	.	3011;3011;3056	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	W	3056;3040;3011;3011;3030	ENSP00000430497:R3056W;ENSP00000399605:R3011W;ENSP00000050961:R3011W;ENSP00000430848:R3030W	ENSP00000050961:R3011W	R	+	1	2	ZFHX4	77930878	1.000000	0.71417	0.162000	0.22713	0.613000	0.37349	4.022000	0.57203	0.796000	0.33947	0.655000	0.94253	CGG		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	117	0	0	0	1	0	6	117					T	77768323	C	T	77768323	3	4	298	1	0	0	0	0	1	0	0	0	17632	875	31	1	9200	1	ZFHX4	8	77768323	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		77768323	68595699	7	5219											
TG	7038	broad.mit.edu	37	8	133900513	133900517	+	Frame_Shift_Del	DEL	ATTCA	ATTCA	-	rs555902505		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:133900513_133900517delATTCA	ENST00000220616.4	+	10	2501_2505	c.2461_2465delATTCA	c.(2461-2466)attcaafs	p.IQ821fs	TG_ENST00000377869.1_Frame_Shift_Del_p.IQ821fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	821	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		CAGTCTCTTTATTCAAAGTCTGTAT	0.527																																						uc003ytw.3																			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.(2461-2466)attcaafs		Homo sapiens thyroglobulin (TG), mRNA.																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900513_133900517delATTCA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2461_2465delATTCA	8.37:g.133900513_133900517delATTCA	ENSP00000220616:p.Ile821fs		Somatic					p.I821fs	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	2502_2506	+	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)	821			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.2461_2465delATTCA	CCDS34944.1																																																																																				0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	41						20	41	---	---	---	---	-	133900517	ATTCA	-	133900513	7	5	298	1	0	1	0	1	0	0	0	0	15810	449	16	0	2499	0	TG	8	133900513	Frame_Shift_Del	DEL	ATTCA	TCGA-ET-A25I-01A-11D-A16O-08	56132190	133900513	12463509	8	5220											
TTF1	7270	broad.mit.edu	37	9	135275452	135275452	+	Silent	SNP	A	A	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr9:135275452A>G	ENST00000334270.2	-	3	1600	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	521					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)		AACCGTTCCAAGTCGTCCCGG	0.473																																						uc004cbl.3																			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.(1561-1563)Ttg>Ctg		Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.							180	166	171					9																	135275452		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275452A>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1561T>C	9.37:g.135275452A>G			Somatic				TTF1_uc004cbm.3_Silent_p.L6L|TTF1_uc011mcp.2_Non-coding_Transcript	p.L521L	NM_007344	NP_031370	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1630	-		Myeloproliferative disorder(178;0.204)	521					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1561T>C	CCDS6948.1																																																																																				0.473	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		54	101	0	0	0	1	0	54	101					G	135275452	A	G	135275452	2	3	298	1	0	0	0	0	0	0	0	1	16715	69	3	3		3	TTF1	9	135275452	Silent	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08		135275452	5937979	9	5221											
AGAP2	116986	broad.mit.edu	37	12	58131103	58131103	+	Silent	SNP	G	G	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr12:58131103G>A	ENST00000547588.1	-	1	926	c.927C>T	c.(925-927)tcC>tcT	p.S309S	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	309	Interaction with PLCG1. {ECO:0000250}.				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						GGGGCTGCGCGGAAGCAGCGG	0.687																																						uc001spq.3																			0		p.R309C(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(925-927)tcC>tcT		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.							41	55	50					12																	58131103		1568	3582	5150	SO:0001819	synonymous_variant	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.chr12:58131103G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.927C>T	12.37:g.58131103G>A			Somatic				AGAP2_uc001spp.3_Silent_p.S309S|AGAP2_uc001spr.3_Intron	p.S309S	NM_001122772	NP_001116244	WXS	Illumina GAIIx	Phase_I	Q99490	AGAP2_HUMAN			0	927	-			309			Interaction with PLCG1 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.927C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238281	0.01493	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.83	2.89	0.33648	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50676	-0.8800	4	.	.	.	.	7.0637	0.25139	0.1004:0.1791:0.7205:0.0	.	.	.	.	C	173	.	.	R	-	1	0	AGAP2	56417370	0.992000	0.36948	0.992000	0.48379	0.023000	0.10783	1.804000	0.38873	1.120000	0.41904	0.555000	0.69702	CGC		0.687	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		3	58	0	0	0	1	0	3	58					A	58131103	G	A	58131103	2	1	298	1	0	0	0	0	0	0	0	1	368	1103	39	1		1	AGAP2	12	58131103	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		58131103	75720792	10	5222											
TBC1D4	9882	broad.mit.edu	37	13	75936554	75936554	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr13:75936554T>C	ENST00000377636.3	-	2	1034	c.688A>G	c.(688-690)Agc>Ggc	p.S230G	TBC1D4_ENST00000431480.2_Missense_Mutation_p.S230G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S230G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	230					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGTGCAGGCTGAACTTCTCC	0.597																																						uc001vjl.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(688-690)Agc>Ggc		Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.							108	110	109					13																	75936554		2061	4205	6266	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75936554T>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.688A>G	13.37:g.75936554T>C	ENSP00000366863:p.Ser230Gly		Somatic				TBC1D4_uc010aer.2_Missense_Mutation_p.S230G|TBC1D4_uc010aes.2_Missense_Mutation_p.S230G	p.S230G	NM_014832	NP_055647	WXS	Illumina GAIIx	Phase_I	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	1	1035	-		Prostate(6;0.014)|Breast(118;0.0982)	230					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.688A>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457698	0.43634	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03330	3.98;3.97;3.97	5.28	5.28	0.74379	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.45581	1.43	0.80722	D	1	B;P;P	0.52692	0.009;0.955;0.925	B;P;B	0.48552	0.03;0.581;0.377	T	0.11275	-1.0594	10	0.54805	T	0.06	-21.1899	15.1927	0.73060	0.0:0.0:0.0:1.0	.	230;230;230	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	G	230	ENSP00000366863:S230G;ENSP00000395986:S230G;ENSP00000366852:S230G	ENSP00000366852:S230G	S	-	1	0	TBC1D4	74834555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.977000	0.63792	1.994000	0.58287	0.460000	0.39030	AGC		0.597	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	160	0	0	0	1	0	4	160					C	75936554	T	C	75936554	3	2	298	1	0	0	0	0	1	0	0	0	15619	1580	55	3	3288	3	TBC1D4	13	75936554	Missense_Mutation	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		75936554	39233324	11	5223											
C14orf49	161176	broad.mit.edu	37	14	95906371	95906371	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr14:95906371G>C	ENST00000334258.5	-	11	1967	c.1953C>G	c.(1951-1953)tgC>tgG	p.C651W	SYNE3_ENST00000557275.1_Missense_Mutation_p.C651W|SYNE3_ENST00000554873.1_Missense_Mutation_p.C408W	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	651					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGCTGAAGGTGCAGTGCTCCT	0.682																																						uc001yei.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1951-1953)tgC>tgG		Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.							79	81	80					14																	95906371		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding	g.chr14:95906371G>C	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1953C>G	14.37:g.95906371G>C	ENSP00000334308:p.Cys651Trp		Somatic				C14orf49_uc010avi.3_Missense_Mutation_p.C651W	p.C651W	NM_152592	NP_689805	WXS	Illumina GAIIx	Phase_I	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	10	1968	-		all_cancers(154;0.0937)	651					A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1953C>G	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985241	0.35036	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.34275	1.37;1.37;1.37	4.7	-0.92	0.10475	.	0.489617	0.17424	N	0.174735	T	0.25158	0.0611	L	0.43923	1.385	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.16289	0.009;0.015	T	0.06698	-1.0812	10	0.62326	D	0.03	-2.612	5.415	0.16368	0.3954:0.3047:0.2998:0.0	.	651;651	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	W	651;408;651	ENSP00000334308:C651W;ENSP00000452154:C408W;ENSP00000450562:C651W	ENSP00000334308:C651W	C	-	3	2	C14orf49	94976124	0.001000	0.12720	0.812000	0.32479	0.957000	0.61999	0.270000	0.18607	0.022000	0.15160	0.561000	0.74099	TGC		0.682	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		40	85	0	0	0	1	0	40	85					C	95906371	G	C	95906371	3	2	298	1	0	0	0	0	1	0	0	0	1776	1311	46	4	1002	4	C14orf49	14	95906371	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		95906371	11443169	12	5224											
SMG1	23049	broad.mit.edu	37	16	18823096	18823096	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr16:18823096G>A	ENST00000446231.2	-	62	11307	c.10895C>T	c.(10894-10896)tCa>tTa	p.S3632L	SMG1_ENST00000389467.3_Missense_Mutation_p.S3633L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3632	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCAGCAACTGACATCCTCCT	0.443																																						uc002dfm.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10894-10896)tCa>tTa		Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.							303	284	290					16																	18823096		1914	4128	6042	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823096G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10895C>T	16.37:g.18823096G>A	ENSP00000402515:p.Ser3632Leu		Somatic				SMG1_uc010bwb.3_Missense_Mutation_p.S3492L|SMG1_uc010bwa.3_Missense_Mutation_p.S2363L|SMG1_uc021tec.1_5'Flank	p.S3632L	NM_015092	NP_055907	WXS	Illumina GAIIx	Phase_I	Q96Q15	SMG1_HUMAN			61	11258	-			3632			FATC.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10895C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130406	0.77549	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	D;D	0.83506	-1.73;-1.73	5.83	5.83	0.93111	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.56097	D	0.000034	D	0.92280	0.7551	M	0.93420	3.415	0.40662	D	0.982139	P	0.52170	0.951	P	0.54372	0.75	D	0.93900	0.7187	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	3632	Q96Q15	SMG1_HUMAN	L	3632;3633	ENSP00000402515:S3632L;ENSP00000374118:S3633L	ENSP00000374118:S3633L	S	-	2	0	SMG1	18730597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.988000	0.76212	2.756000	0.94617	0.655000	0.94253	TCA		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		13	345	0	0	0	1	0	13	345					A	18823096	G	A	18823096	3	1	298	1	0	0	0	0	1	0	0	0	14795	1294	45	2	98	2	SMG1	16	18823096	Missense_Mutation	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08		18823096	71531657	13	5225											
UNC45B	146862	broad.mit.edu	37	17	33507620	33507620	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:33507620C>A	ENST00000268876.5	+	18	2401	c.2304C>A	c.(2302-2304)aaC>aaA	p.N768K	UNC45B_ENST00000378449.1_Missense_Mutation_p.N687K|UNC45B_ENST00000591048.1_Missense_Mutation_p.N687K|UNC45B_ENST00000394570.2_Missense_Mutation_p.N766K|UNC45B_ENST00000433649.1_Missense_Mutation_p.N766K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	768					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACATCGAGAACTACATGTTTG	0.557																																						uc002hja.3																			0		p.E767K(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2302-2304)aaC>aaA		Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.							83	78	80					17																	33507620		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33507620C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2304C>A	17.37:g.33507620C>A	ENSP00000268876:p.Asn768Lys		Somatic				UNC45B_uc002hjb.3_Missense_Mutation_p.N766K|UNC45B_uc002hjc.3_Missense_Mutation_p.N766K|UNC45B_uc010cto.3_Missense_Mutation_p.N687K	p.N768K	NM_173167	NP_775259	WXS	Illumina GAIIx	Phase_I	Q8IWX7	UN45B_HUMAN			17	2401	+		Ovarian(249;0.17)	768					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2304C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614815	0.46631	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.46819	0.86;1.62;0.86	5.2	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.092791	0.64402	D	0.000001	T	0.48840	0.1522	M	0.69823	2.125	0.39631	D	0.970176	D;P;P	0.56035	0.974;0.692;0.745	P;B;B	0.46758	0.526;0.311;0.164	T	0.51957	-0.8639	10	0.20519	T	0.43	-38.2733	11.9691	0.53053	0.0:0.8307:0.0:0.1693	.	687;766;768	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	K	768;768;766;687	ENSP00000268876:N768K;ENSP00000412840:N766K;ENSP00000367710:N687K	ENSP00000268876:N768K	N	+	3	2	UNC45B	30531733	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.676000	0.46883	1.190000	0.43042	0.462000	0.41574	AAC		0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		30	63	0	0	0	1	0	30	63					A	33507620	C	A	33507620	3	1	298	1	0	0	0	0	1	0	0	0	16986	564	20	4	2370	4	UNC45B	17	33507620	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		33507620	47687590	14	5226											
KRT35	3886	broad.mit.edu	37	17	39633418	39633418	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:39633418A>G	ENST00000393989.1	-	7	1300	c.1258T>C	c.(1258-1260)Tcc>Ccc	p.S420P	KRT35_ENST00000246639.2_Missense_Mutation_p.S390P	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	420	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CATGACTTGGAGGGTGAGTAG	0.542																																						uc002hws.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1258-1260)Tcc>Ccc		Homo sapiens keratin 35 (KRT35), mRNA.							55	62	60					17																	39633418		1971	4153	6124	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633418A>G	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1258T>C	17.37:g.39633418A>G	ENSP00000377558:p.Ser420Pro		Somatic					p.S420P	NM_002280	NP_002271	WXS	Illumina GAIIx	Phase_I	Q92764	KRT35_HUMAN			6	1301	-		Breast(137;0.000286)	420			Tail.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.1258T>C	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	A	9.160	1.018432	0.19355	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.81996	-1.56;-1.5	5.41	4.33	0.51752	.	0.606715	0.15597	N	0.254113	T	0.78792	0.4339	L	0.58101	1.795	0.33228	D	0.555556	B	0.02656	0.0	B	0.06405	0.002	T	0.77635	-0.2514	10	0.39692	T	0.17	.	9.4108	0.38491	0.8208:0.1792:0.0:0.0	.	420	Q92764	KRT35_HUMAN	P	390;420	ENSP00000246639:S390P;ENSP00000377558:S420P	ENSP00000246639:S390P	S	-	1	0	KRT35	36886944	0.967000	0.33354	0.989000	0.46669	0.115000	0.19883	0.403000	0.20982	1.049000	0.40321	0.460000	0.39030	TCC		0.542	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		3	65	0	0	0	1	0	3	65					G	39633418	A	G	39633418	3	3	298	1	0	0	0	0	1	0	0	0	8472	304	11	3	113	3	KRT35	17	39633418	Missense_Mutation	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08	6125798	39633418	41561792	15	5227											
CPNE1	8904	broad.mit.edu	37	20	34218857	34218857	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr20:34218857A>G	ENST00000317619.3	-	13	1355	c.961T>C	c.(961-963)Tgg>Cgg	p.W321R	CPNE1_ENST00000397446.1_Missense_Mutation_p.W321R|CPNE1_ENST00000352393.4_Missense_Mutation_p.W321R|CPNE1_ENST00000317677.5_Missense_Mutation_p.W326R|CPNE1_ENST00000397442.1_Missense_Mutation_p.W321R|CPNE1_ENST00000397443.1_Missense_Mutation_p.W321R|CPNE1_ENST00000397445.1_Missense_Mutation_p.W321R			Q99829	CPNE1_HUMAN	copine I	321	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCACACTCCACAGTGCCATC	0.572																																						uc010zvj.2																			0				breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(976-978)Tgg>Cgg		Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.							150	122	131					20																	34218857		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34218857A>G	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.961T>C	20.37:g.34218857A>G	ENSP00000326126:p.Trp321Arg		Somatic				CPNE1_uc002xde.3_Missense_Mutation_p.W297R|CPNE1_uc002xdf.3_Missense_Mutation_p.W321R|CPNE1_uc002xdi.3_Missense_Mutation_p.W321R|CPNE1_uc002xdj.3_Missense_Mutation_p.W321R|CPNE1_uc002xdl.3_Missense_Mutation_p.W321R|CPNE1_uc002xdm.3_Missense_Mutation_p.W321R|CPNE1_uc010gfk.2_3'UTR	p.W326R	NM_003915	NP_690905	WXS	Illumina GAIIx	Phase_I	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		10	1343	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		321			VWFA.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.976T>C	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.622606	0.28889	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056	T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.91	5.54	4.45	0.53987	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	U	0.000000	T	0.30696	0.0773	L	0.38531	1.155	0.53688	D	0.999972	D;D;B;D	0.89917	1.0;1.0;0.002;1.0	D;D;B;D	0.91635	0.995;0.998;0.03;0.999	T	0.05716	-1.0868	10	0.11182	T	0.66	-10.5341	11.0657	0.47974	0.9276:0.0:0.0724:0.0	.	326;321;321;301	B0QZ18;A6PVH9;Q99829;Q59EI4	.;.;CPNE1_HUMAN;.	R	321;326;321;321;321;321;321;321;297;297	ENSP00000336945:W321R;ENSP00000317257:W326R;ENSP00000326126:W321R;ENSP00000380588:W321R;ENSP00000380587:W321R;ENSP00000380585:W321R;ENSP00000380584:W321R;ENSP00000415597:W321R;ENSP00000390626:W297R;ENSP00000416962:W297R	ENSP00000326126:W321R	W	-	1	0	CPNE1	33682271	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.949000	0.63596	1.128000	0.42052	0.533000	0.62120	TGG		0.572	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		4	88	0	0	0	1	0	4	88					G	34218857	A	G	34218857	3	3	298	1	0	0	0	0	1	0	0	0	3811	159	6	3	676	3	CPNE1	20	34218857	Missense_Mutation	SNP	A	TCGA-ET-A25I-01A-11D-A16O-08		34218857	28806663	16	5228											
PWP2	5822	broad.mit.edu	37	21	45542148	45542148	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr21:45542148T>A	ENST00000291576.7	+	14	1854	c.1727T>A	c.(1726-1728)gTg>gAg	p.V576E		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	576					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGAACGCGGTGCAGACGGGC	0.582																																						uc002zeb.3																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1726-1728)gTg>gAg		Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.							145	112	123					21																	45542148		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45542148T>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1727T>A	21.37:g.45542148T>A	ENSP00000291576:p.Val576Glu		Somatic					p.V576E	NM_005049	NP_005040	WXS	Illumina GAIIx	Phase_I	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	13	1817	+			576					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1727T>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	1.156	-0.645323	0.03531	.	.	ENSG00000241945	ENST00000291576	T	0.03801	3.8	4.96	3.78	0.43462	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.352416	0.31392	N	0.007726	T	0.03011	0.0089	L	0.28274	0.84	0.32353	N	0.5582	B	0.28552	0.215	B	0.26517	0.07	T	0.24870	-1.0148	10	0.02654	T	1	-3.2886	8.7528	0.34629	0.0:0.1514:0.0:0.8486	.	576	Q15269	PWP2_HUMAN	E	576	ENSP00000291576:V576E	ENSP00000291576:V576E	V	+	2	0	PWP2	44366576	0.998000	0.40836	0.743000	0.31040	0.472000	0.32918	2.189000	0.42621	0.954000	0.37851	0.533000	0.62120	GTG		0.582	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		18	100	0	0	0	1	0	18	100					A	45542148	T	A	45542148	3	1	298	1	0	0	0	0	1	0	0	0	12844	1696	59	5	1781	5	PWP2	21	45542148	Missense_Mutation	SNP	T	TCGA-ET-A25I-01A-11D-A16O-08		45542148	2587747	17	5229											
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502																																						uc002zlw.3																			1	Substitution - Missense(1)	p.R92P(2)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(274-276)cGc>cAc		Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.							211	222	218					22																	17472966		2195	4300	6495	SO:0001583	missense	128954							g.chr22:17472966C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.275G>A	22.37:g.17472966C>T	ENSP00000383431:p.Arg92His		Somatic				GAB4_uc010gqs.1_Missense_Mutation_p.R92H	p.R92H	NM_001037814	NP_001032903	WXS	Illumina GAIIx	Phase_I	Q2WGN9	GAB4_HUMAN			1	383	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	92			PH.			Missense_Mutation	SNP	ENST00000400588.1	37	c.275G>A	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC		0.502	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		18	244	0	0	0	1	0	18	244					T	17472966	C	T	17472966	3	4	298	1	0	0	0	0	1	0	0	0	6151	768	27	1	1485	1	GAB4	22	17472966	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		17472966	33831600	18	5230											
NHS	4810	broad.mit.edu	37	X	17743871	17743871	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:17743871C>T	ENST00000380060.3	+	6	1920	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	NHS_ENST00000398097.3_Missense_Mutation_p.P372S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	549					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)					CAGTGAGGCTCCAAGCAGCCC	0.542																																						uc011mix.2																			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.(1645-1647)Cca>Tca		Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.							59	54	56					X																	17743871		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743871C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1582C>T	X.37:g.17743871C>T	ENSP00000369400:p.Pro528Ser		Somatic				NHS_uc004cxx.3_Missense_Mutation_p.P528S|NHS_uc004cxy.3_Missense_Mutation_p.P372S|NHS_uc004cxz.3_Missense_Mutation_p.P351S|NHS_uc004cya.3_Missense_Mutation_p.P251S	p.P549S	NM_001136024	NP_001129496	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			6	1983	+	Hepatocellular(33;0.183)		528					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1645C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317261	0.10845	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44083	0.93;0.94	5.86	2.72	0.32119	.	0.563272	0.19833	N	0.105048	T	0.23886	0.0578	L	0.29908	0.895	0.23862	N	0.996634	B;B;B;P	0.41265	0.137;0.034;0.034;0.744	B;B;B;B	0.39027	0.058;0.036;0.036;0.288	T	0.10291	-1.0636	10	0.09843	T	0.71	-2.2613	5.3366	0.15961	0.3306:0.4888:0.105:0.0756	.	549;370;372;528	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	528;372;370	ENSP00000369400:P528S;ENSP00000381170:P372S	ENSP00000369397:P370S	P	+	1	0	NHS	17653792	0.903000	0.30736	0.993000	0.49108	0.973000	0.67179	0.049000	0.14099	0.568000	0.29311	0.600000	0.82982	CCA		0.542	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		26	60	0	0	0	1	0	26	60					T	17743871	C	T	17743871	3	4	298	1	0	0	0	0	1	0	0	0	10411	855	30	2	1709	2	NHS	23	17743871	Missense_Mutation	SNP	C	TCGA-ET-A25I-01A-11D-A16O-08		17743871	137526689	19	5231											
PLXNB3	5365	broad.mit.edu	37	X	153033718	153033718	+	Silent	SNP	G	G	A	rs558515318		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:153033718G>A	ENST00000361971.5	+	4	1215	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538776.1_Silent_p.S20S|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Silent_p.S390S|PLXNB3_ENST00000538282.1_Silent_p.S20S	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	367	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCGAGTCGTACCCCTGTG	0.687																																						uc010nuk.2																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1168-1170)tcG>tcA		Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.							39	45	43					X																	153033718		2203	4297	6500	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033718G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1101G>A	X.37:g.153033718G>A			Somatic				PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.S49S|PLXNB3_uc004fii.2_Silent_p.S367S|PLXNB3_uc011mzd.1_Silent_p.S6S	p.S390S	NM_001163257	NP_001156729	WXS	Illumina GAIIx	Phase_I	Q9ULL4	PLXB3_HUMAN			4	1441	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		367			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1170G>A	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			37	51	0	0	0	1	0	37	51					A	153033718	G	A	153033718	2	1	298	1	0	0	0	0	0	0	0	1	12125	1132	40	1		1	PLXNB3	23	153033718	Silent	SNP	G	TCGA-ET-A25I-01A-11D-A16O-08	135289847	153033718	2236842	20	5232											
CEP350	9857	broad.mit.edu	37	1	180062807	180062807	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr1:180062807A>G	ENST00000367607.3	+	34	7985	c.7567A>G	c.(7567-7569)Aaa>Gaa	p.K2523E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2523	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGTTTTGCTAAAGGATTTTG	0.383																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(7567-7569)Aaa>Gaa		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							79	86	84					1																	180062807		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180062807A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7567A>G	1.37:g.180062807A>G	ENSP00000356579:p.Lys2523Glu		Somatic				CEP350_uc009wxl.2_Missense_Mutation_p.K2522E|CEP350_uc001gnv.3_Missense_Mutation_p.K658E|CEP350_uc001gnw.1_Missense_Mutation_p.K280E|CEP350_uc001gnx.1_Missense_Mutation_p.K280E	p.K2523E	NM_014810	NP_055625	WXS	Illumina GAIIx	Phase_I	Q5VT06	CE350_HUMAN			33	7950	+			2523			CAP-Gly.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.7567A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848223	0.32699	.	.	ENSG00000135837	ENST00000367607	T	0.74737	-0.87	5.72	3.12	0.35913	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.267050	0.25991	N	0.027006	T	0.46405	0.1391	N	0.03194	-0.395	0.32657	N	0.518596	B;B	0.14805	0.001;0.011	B;B	0.25614	0.006;0.062	T	0.39354	-0.9618	9	.	.	.	.	5.2332	0.15434	0.6068:0.1399:0.2533:0.0	.	2523;2523	E7EU22;Q5VT06	.;CE350_HUMAN	E	2523	ENSP00000356579:K2523E	.	K	+	1	0	CEP350	178329430	0.994000	0.37717	0.989000	0.46669	0.997000	0.91878	2.953000	0.49105	0.311000	0.23014	0.533000	0.62120	AAA		0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		37	44	0	0	0	1	0	37	44					G	180062807	A	G	180062807	3	3	299	1	0	0	0	0	1	0	0	0	3254	363	13	3	7697	3	CEP350	1	180062807	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08		180062807	69187814	1	5233											
YSK4	80122	broad.mit.edu	37	2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr2:135745373G>A	ENST00000375845.3	-	7	1099	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	357							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCAGGTTTTCGCGTTTTACTA	0.378																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1069-1071)Cga>Tga		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							59	56	57					2																	135745373		2203	4300	6503	SO:0001587	stop_gained	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745373G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	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		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1069C>T	2.37:g.135745373G>A	ENSP00000365005:p.Arg357*		Somatic				YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Nonsense_Mutation_p.R244*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Nonsense_Mutation_p.R85*|YSK4_uc002tui.4_Nonsense_Mutation_p.R374*	p.R357*	NM_025052	NP_079328	WXS	Illumina GAIIx	Phase_I	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1100	-			357					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.1069C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494529	0.44352	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.58	2.09	0.27110	.	0.526148	0.15899	N	0.239179	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5785	0.22581	0.0:0.0894:0.4993:0.4113	.	.	.	.	X	357;244;374	.	ENSP00000351140:R244X	R	-	1	2	YSK4	135461843	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	0.149000	0.16243	0.243000	0.21327	-0.291000	0.09656	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		20	31	0	0	0	1	0	20	31					A	135745373	G	A	135745373	4	1	299	1	0	0	0	0	0	1	0	0	17492	1095	38	1	2933	1	YSK4	2	135745373	Nonsense_Mutation	SNP	G	TCGA-ET-A25J-01A-11D-A16O-08		135745373	107454000	2	5234											
GTDC1	79712	broad.mit.edu	37	2	144704667	144704667	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr2:144704667A>T	ENST00000392869.2	-	11	1481	c.1329T>A	c.(1327-1329)caT>caA	p.H443Q	GTDC1_ENST00000409298.1_Missense_Mutation_p.H325Q|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000344850.4_Missense_Mutation_p.H443Q|GTDC1_ENST00000542155.1_Missense_Mutation_p.H443Q|GTDC1_ENST00000241391.5_Missense_Mutation_p.H358Q|GTDC1_ENST00000409214.1_Missense_Mutation_p.H443Q|GTDC1_ENST00000463875.2_Missense_Mutation_p.H314Q|GTDC1_ENST00000392867.3_Missense_Mutation_p.H358Q	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	443					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)		TGAATTTACCATGTAGGGCTG	0.448																																						uc002tvp.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(1327-1329)caT>caA		Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.							78	78	78					2																	144704667		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144704667A>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	20887	protein-coding gene	gene with protein product	"mannosyltransferase-like"	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1329T>A	2.37:g.144704667A>T	ENSP00000376608:p.His443Gln		Somatic				GTDC1_uc002tvo.3_3'UTR|GTDC1_uc021vqf.1_Missense_Mutation_p.H358Q|GTDC1_uc010fnn.3_Missense_Mutation_p.H443Q|GTDC1_uc002tvs.3_Missense_Mutation_p.H411Q|GTDC1_uc021vqg.1_Missense_Mutation_p.H325Q|GTDC1_uc002tvr.3_Missense_Mutation_p.H358Q|GTDC1_uc010fno.3_Missense_Mutation_p.H314Q	p.H443Q	NM_001006636	NP_001158101	WXS	Illumina GAIIx	Phase_I	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	11	1608	-			443					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1329T>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	A	7.499	0.652251	0.14580	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T;T	0.78924	1.02;1.02;1.03;-1.22;1.02;1.03;1.02;1.01	5.96	4.8	0.61643	.	0.278385	0.40728	N	0.001027	T	0.60025	0.2237	N	0.22421	0.69	0.25383	N	0.988598	P;P;B;P	0.45474	0.859;0.773;0.022;0.664	B;B;B;B	0.37304	0.246;0.246;0.038;0.125	T	0.51124	-0.8745	10	0.16420	T	0.52	-7.3367	10.7671	0.46299	0.8684:0.0:0.1316:0.0	.	443;358;325;443	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62	.;.;.;GTDC1_HUMAN	Q	443;443;358;325;443;358;443;314	ENSP00000376608:H443Q;ENSP00000386581:H443Q;ENSP00000376606:H358Q;ENSP00000386691:H325Q;ENSP00000438323:H443Q;ENSP00000241391:H358Q;ENSP00000339750:H443Q;ENSP00000437964:H314Q	ENSP00000241391:H358Q	H	-	3	2	GTDC1	144421137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.574000	0.36482	1.070000	0.40811	0.533000	0.62120	CAT		0.448	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		29	55	0	0	0	1	0	29	55					T	144704667	A	T	144704667	3	4	299	1	0	0	0	0	1	0	0	0	6851	214	8	5	51	5	GTDC1	2	144704667	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08	8959294	144704667	98494706	3	5235											
SHQ1	55164	broad.mit.edu	37	3	72890283	72890283	+	Silent	SNP	G	G	C	rs376103451		TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr3:72890283G>C	ENST00000325599.8	-	4	538	c.399C>G	c.(397-399)ccC>ccG	p.P133P	SHQ1_ENST00000463369.1_Silent_p.P105P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	133					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P133P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCTCTTCACAGGGTGTCTGCT	0.393																																						uc003dpf.3																			1	Substitution - coding silent(1)	p.P133P(2)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(397-399)ccC>ccG		Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.							140	129	133					3																	72890283		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72890283G>C	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.399C>G	3.37:g.72890283G>C			Somatic				SHQ1_uc010hod.3_Silent_p.P44P	p.P133P	NM_018130	NP_060600	WXS	Illumina GAIIx	Phase_I	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	3	506	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	133					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.399C>G	CCDS33788.1																																																																																				0.393	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		31	44	0	0	0	1	0	31	44					C	72890283	G	C	72890283	2	2	299	1	0	0	0	0	0	0	0	1	14292	987	35	4		4	SHQ1	3	72890283	Silent	SNP	G	TCGA-ET-A25J-01A-11D-A16O-08		72890283	125132147	4	5236											
SLC6A3	6531	broad.mit.edu	37	5	1403135	1403135	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr5:1403135C>T	ENST00000270349.9	-	13	1796	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A557T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	557					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGCGTTGGCCCAGTCGGGG	0.612																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1669-1671)Gcc>Acc		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						74	60	65					5																	1403135		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403135C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1669G>A	5.37:g.1403135C>T	ENSP00000270349:p.Ala557Thr		Somatic					p.A557T	NM_001044	NP_001035	WXS	Illumina GAIIx	Phase_I	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1795	-			557					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1669G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.437895	0.83885	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.77358	-1.09;-1.09	4.04	4.04	0.47022	.	0.122383	0.53938	D	0.000047	D	0.87442	0.6178	M	0.83603	2.65	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.88960	0.3393	10	0.56958	D	0.05	.	13.7155	0.62693	0.0:1.0:0.0:0.0	.	557	Q01959	SC6A3_HUMAN	T	557	ENSP00000270349:A557T;ENSP00000399806:A557T	ENSP00000270349:A557T	A	-	1	0	SLC6A3	1456135	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.908000	0.75730	1.815000	0.52974	0.298000	0.19748	GCC		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		3	23	0	0	0	1	0	3	23					T	1403135	C	T	1403135	3	4	299	1	0	0	0	0	1	0	0	0	14685	739	26	2	205	2	SLC6A3	5	1403135	Missense_Mutation	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08		1403135	179512125	5	5237											
TREML2	79865	broad.mit.edu	37	6	41162468	41162468	+	Silent	SNP	A	A	G			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr6:41162468A>G	ENST00000483722.1	-	3	665	c.480T>C	c.(478-480)ccT>ccC	p.P160P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	160					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGTGGTAAAAGGGGCATCAG	0.542																																						uc010jxm.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(478-480)ccT>ccC		Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.							140	116	124					6																	41162468		2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162468A>G	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.480T>C	6.37:g.41162468A>G			Somatic					p.P160P	NM_024807	NP_079083	WXS	Illumina GAIIx	Phase_I	Q5T2D2	TRML2_HUMAN			2	659	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		160					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.480T>C	CCDS4853.2																																																																																				0.542	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		3	46	0	0	0	1	0	3	46					G	41162468	A	G	41162468	2	3	299	1	0	0	0	0	0	0	0	1	16470	59	3	3		3	TREML2	6	41162468	Silent	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08		41162468	129952599	6	5238											
KIAA0240	23506	broad.mit.edu	37	6	42796798	42796798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr6:42796798C>T	ENST00000314073.5	+	6	903	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q243*			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	243																	GGGCAGCGGGCAGCAAGCCCC	0.438																																						uc003osn.1																			0		p.G242V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44						c.(727-729)Cag>Tag		Homo sapiens KIAA0240 (KIAA0240), mRNA.							65	67	66					6																	42796798		2203	4300	6503	SO:0001587	stop_gained	23506							g.chr6:42796798C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.727C>T	6.37:g.42796798C>T	ENSP00000313933:p.Gln243*		Somatic				KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q243*	p.Q243*	NM_015349	NP_056164	WXS	Illumina GAIIx	Phase_I	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		5	878	+	Colorectal(47;0.196)		243					A1L3W2|Q5TFZ3|Q92514	Nonsense_Mutation	SNP	ENST00000314073.5	37	c.727C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	37	6.061394	0.97246	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-9.6085	19.1617	0.93535	0.0:1.0:0.0:0.0	.	.	.	.	X	243	.	ENSP00000313933:Q243X	Q	+	1	0	KIAA0240	42904776	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.318000	0.51975	2.581000	0.87130	0.655000	0.94253	CAG		0.438	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		32	47	0	0	0	1	0	32	47					T	42796798	C	T	42796798	4	4	299	1	0	0	0	0	0	1	0	0	8164	711	25	2	741	2	KIAA0240	6	42796798	Nonsense_Mutation	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08	1634330	42796798	128318269	7	5239											
SDK1	221935	broad.mit.edu	37	7	4008968	4008968	+	Silent	SNP	C	C	A			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr7:4008968C>A	ENST00000404826.2	+	11	1765	c.1626C>A	c.(1624-1626)ccC>ccA	p.P542P	SDK1_ENST00000389531.3_Silent_p.P542P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	542	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P542P(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGATCGCGCCCGTCTTCATCC	0.552																																						uc003smx.3																			1	Substitution - coding silent(1)	p.P542P(2)	lung(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1624-1626)ccC>ccA		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							172	181	178					7																	4008968		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4008968C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1626C>A	7.37:g.4008968C>A			Somatic					p.P542P	NM_152744	NP_689957	WXS	Illumina GAIIx	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	10	1765	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	542			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.1626C>A	CCDS34590.1																																																																																				0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	278	0	0	0	1	0	7	278					A	4008968	C	A	4008968	2	1	299	1	0	0	0	0	0	0	0	1	13968	639	23	4		4	SDK1	7	4008968	Silent	SNP	C	TCGA-ET-A25J-01A-11D-A16O-08		4008968	155129695	8	5240											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	36	0	0	0	1	0	29	36					T	140453136	A	T	140453136	3	4	299	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25J-01A-11D-A16O-08	136444168	140453136	18685527	9	5241											
IPMK	253430	broad.mit.edu	37	10	59956151	59956151	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A25J-01A-11D-A16O-08	TCGA-ET-A25J-11A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	190847d8-d1d7-49ed-b1b3-7f44d7bc5757	cdf78c2d-64c7-4ffe-a837-7b24d298b01c	g.chr10:59956151T>C	ENST00000373935.3	-	6	1259	c.937A>G	c.(937-939)Agc>Ggc	p.S313G		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	313					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TTGGACAAGCTTTTGCCCACT	0.383																																						uc001jkb.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(937-939)Agc>Ggc		Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA.							125	128	127					10																	59956151		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956151T>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.937A>G	10.37:g.59956151T>C	ENSP00000363046:p.Ser313Gly		Somatic					p.S313G	NM_152230	NP_689416	WXS	Illumina GAIIx	Phase_I	Q8NFU5	IPMK_HUMAN			5	1260	-			313						Missense_Mutation	SNP	ENST00000373935.3	37	c.937A>G	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	9.756	1.168861	0.21621	.	.	ENSG00000151151	ENST00000373935	T	0.19105	2.17	6.07	4.75	0.60458	.	0.254258	0.51477	D	0.000081	T	0.11153	0.0272	N	0.16478	0.41	0.24205	N	0.995494	B	0.09022	0.002	B	0.08055	0.003	T	0.20174	-1.0283	9	.	.	.	-0.6127	7.3734	0.26815	0.0:0.1636:0.0:0.8364	.	313	Q8NFU5	IPMK_HUMAN	G	313	ENSP00000363046:S313G	.	S	-	1	0	IPMK	59626157	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.580000	0.36547	2.330000	0.79161	0.477000	0.44152	AGC		0.383	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		3	153	0	0	0	1	0	3	153					C	59956151	T	C	59956151	3	2	299	1	0	0	0	0	1	0	0	0	7792	1609	56	3	317	3	IPMK	10	59956151	Missense_Mutation	SNP	T	TCGA-ET-A25J-01A-11D-A16O-08		59956151	75578596	10	5242											
KIF1B	23095	broad.mit.edu	37	1	10397153	10397153	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr1:10397153A>G	ENST00000377086.1	+	30	3353	c.3151A>G	c.(3151-3153)Atg>Gtg	p.M1051V	KIF1B_ENST00000263934.6_Missense_Mutation_p.M1005V|KIF1B_ENST00000377081.1_Missense_Mutation_p.M1051V			O60333	KIF1B_HUMAN	kinesin family member 1B	1051					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTCTGTTGCAATGACTCGTTC	0.428																																						uc001aqz.3																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3151-3153)Atg>Gtg		Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.							191	189	190					1																	10397153		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10397153A>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3151A>G	1.37:g.10397153A>G	ENSP00000366290:p.Met1051Val		Somatic				KIF1B_uc001aqw.4_Missense_Mutation_p.M1005V|KIF1B_uc001aqx.4_Missense_Mutation_p.M1051V|KIF1B_uc001aqy.3_Missense_Mutation_p.M1025V|KIF1B_uc001ara.3_Missense_Mutation_p.M1011V|KIF1B_uc001arb.3_Missense_Mutation_p.M1037V	p.M1051V	NM_015074	NP_055889	WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	28	3230	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1051					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3151A>G		.	.	.	.	.	.	.	.	.	.	A	13.33	2.204399	0.38905	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72394	-0.65;-0.65;-0.65	5.95	4.82	0.62117	.	0.038173	0.85682	D	0.000000	T	0.56016	0.1957	L	0.34521	1.04	0.43408	D	0.995543	B;B;B;B;B;B	0.22746	0.007;0.01;0.074;0.003;0.0;0.002	B;B;B;B;B;B	0.20767	0.008;0.005;0.031;0.027;0.001;0.002	T	0.47169	-0.9138	10	0.14252	T	0.57	.	10.2618	0.43431	0.7358:0.0:0.0:0.2642	.	1037;1011;1051;1025;1051;1005	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	V	1051;1005;1051;1051	ENSP00000263934:M1005V;ENSP00000366290:M1051V;ENSP00000366284:M1051V	ENSP00000263934:M1005V	M	+	1	0	KIF1B	10319740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	1.056000	0.40484	0.533000	0.62120	ATG		0.428	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			53	120	0	0	0	1	0	53	120					G	10397153	A	G	10397153	3	3	300	1	0	0	0	0	1	0	0	0	8284	101	4	3	4608	3	KIF1B	1	10397153	Missense_Mutation	SNP	A	TCGA-ET-A25K-01A-11D-A16O-08		10397153	238853468	1	5243											
CSMD2	114784	broad.mit.edu	37	1	34190211	34190211	+	Silent	SNP	G	G	A			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr1:34190211G>A	ENST00000373381.4	-	18	2966	c.2790C>T	c.(2788-2790)acC>acT	p.T930T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	890	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)				CACAGCTGAAGGTCACCAGCG	0.562																																						uc001bxm.1																			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.(2788-2790)acC>acT		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							82	77	79					1																	34190211		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190211G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2790C>T	1.37:g.34190211G>A			Somatic				CSMD2_uc001bxn.1_Silent_p.T890T	p.T930T	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			17	2967	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	890			CUB 6.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2790C>T																																																																																					0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		5	66	0	0	0	1	0	5	66					A	34190211	G	A	34190211	2	1	300	1	0	0	0	0	0	0	0	1	3945	987	35	2		2	CSMD2	1	34190211	Silent	SNP	G	TCGA-ET-A25K-01A-11D-A16O-08	23793058	34190211	215060410	2	5244											
VWA3B	200403	broad.mit.edu	37	2	98853095	98853095	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:98853095C>A	ENST00000477737.1	+	19	2779	c.2575C>A	c.(2575-2577)Ctc>Atc	p.L859I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	859										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCCAAGAAACTCACCCTCAT	0.478																																						uc002syo.3																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2575-2577)Ctc>Atc		Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.							105	111	109					2																	98853095		2008	4176	6184	SO:0001583	missense	200403							g.chr2:98853095C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2575C>A	2.37:g.98853095C>A	ENSP00000417955:p.Leu859Ile		Somatic				VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.L378I|VWA3B_uc002sym.3_Missense_Mutation_p.L859I|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.L516I|VWA3B_uc002syp.1_Missense_Mutation_p.L251I|VWA3B_uc002syq.1_Missense_Mutation_p.L135I|VWA3B_uc002syr.1_Missense_Mutation_p.L176I|VWA3B_uc010fih.1_Non-coding_Transcript	p.L859I	NM_144992	NP_659429	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			18	2839	+			859					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2575C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.583693|4.583693	0.86748|0.86748	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.29655|.	1.56|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.56097|.	D|.	0.000035|.	T|T	0.69993|0.69993	0.3173|0.3173	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.994;0.997;1.0;0.996|.	T|T	0.68006|0.68006	-0.5523|-0.5523	10|5	0.87932|.	D|.	0|.	.|.	17.2494|17.2494	0.87038|0.87038	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	251;859;859;859|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	I|N	859|269	ENSP00000417955:L859I|.	ENSP00000417955:L859I|.	L|T	+|+	1|2	0|0	VWA3B|VWA3B	98219527|98219527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.962000|4.962000	0.63687|0.63687	2.429000|2.429000	0.82318|0.82318	0.591000|0.591000	0.81541|0.81541	CTC|ACT		0.478	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		8	93	0	0	0	1	0	8	93					A	98853095	C	A	98853095	3	1	300	1	0	0	0	0	1	0	0	0	17238	565	20	4	2645	4	VWA3B	2	98853095	Missense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		98853095	144346278	3	5245											
RANBP2	5903	broad.mit.edu	37	2	109382494	109382494	+	Silent	SNP	T	T	G			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:109382494T>G	ENST00000283195.6	+	20	5625	c.5499T>G	c.(5497-5499)tcT>tcG	p.S1833S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1833					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGACTCTTCTGGAAGTCAGG	0.413																																						uc002tem.4																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5497-5499)tcT>tcG		Homo sapiens RAN binding protein 2 (RANBP2), mRNA.							78	83	81					2																	109382494		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding	g.chr2:109382494T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5499T>G	2.37:g.109382494T>G			Somatic					p.S1833S	NM_006267	NP_006258	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			19	5625	+			1833					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.5499T>G	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		29	65	0	0	0	1	0	29	65					G	109382494	T	G	109382494	2	3	300	1	0	0	0	0	0	0	0	1	13028	1567	55	5		5	RANBP2	2	109382494	Silent	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08	10529399	109382494	133816879	4	5246											
TTN	7273	broad.mit.edu	37	2	179455272	179455272	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr2:179455272T>G	ENST00000591111.1	-	254	56481	c.56257A>C	c.(56257-56259)Aag>Cag	p.K18753Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K20394Q|TTN_ENST00000342992.6_Missense_Mutation_p.K17826Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K11454Q|TTN_ENST00000460472.2_Missense_Mutation_p.K11329Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K11521Q|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18753	Fibronectin type-III 36. {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)			CTGAGAGGCTTTGTCCACACC	0.443																																						uc021vsy.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.(53476-53478)Aag>Cag		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							107	108	108					2																	179455272		1951	4142	6093	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455272T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56257A>C	2.37:g.179455272T>G	ENSP00000465570:p.Lys18753Gln		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K11521Q|TTN_uc021vta.1_Missense_Mutation_p.K11454Q|TTN_uc021vtb.1_Missense_Mutation_p.K11329Q	p.K17826Q	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	53701	-			18753			Ig-like 104.		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.53476A>C		.	.	.	.	.	.	.	.	.	.	T	12.33	1.905949	0.33628	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69531	0.3121	L	0.55213	1.73	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.71593	-0.4546	9	0.87932	D	0	.	16.7021	0.85357	0.0:0.0:0.0:1.0	.	11329;11454;11521;18753	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17826;11329;11521;11454;11327	ENSP00000343764:K17826Q;ENSP00000434586:K11329Q;ENSP00000340554:K11521Q;ENSP00000352154:K11454Q	ENSP00000340554:K11521Q	K	-	1	0	TTN	179163518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.343000	0.79666	0.533000	0.62120	AAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	94	0	0	0	1	0	54	94					G	179455272	T	G	179455272	3	3	300	1	0	0	0	0	1	0	0	0	16732	1850	64	5	47035	5	TTN	2	179455272	Missense_Mutation	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08	70072778	179455272	63744101	5	5247											
FILIP1L	11259	broad.mit.edu	37	3	99569769	99569769	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr3:99569769C>T	ENST00000354552.3	-	5	1221	c.751G>A	c.(751-753)Gca>Aca	p.A251T	FILIP1L_ENST00000331335.5_Missense_Mutation_p.A251T|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A11T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A11T|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	251						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTGAGCTGTGCCGTCAGCCTT	0.488																																						uc003dtm.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(751-753)Gca>Aca		Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.							138	131	133					3																	99569769		1958	4160	6118	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569769C>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.751G>A	3.37:g.99569769C>T	ENSP00000346560:p.Ala251Thr		Somatic				MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.A251T|FILIP1L_uc010hpf.3_Intron|FILIP1L_uc010hpg.3_Missense_Mutation_p.A11T|FILIP1L_uc003dtn.3_Missense_Mutation_p.A11T|FILIP1L_uc021xbr.1_Missense_Mutation_p.A11T|FILIP1L_uc003dtp.1_Missense_Mutation_p.A11T	p.A251T	NM_182909	NP_878913	WXS	Illumina GAIIx	Phase_I	Q4L180	FIL1L_HUMAN			4	1214	-			251					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.751G>A	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540623	0.65085	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.22945	2.25;1.94;2.25;1.94;1.93	6.17	5.3	0.74995	.	0.124330	0.35677	N	0.003051	T	0.17704	0.0425	N	0.22421	0.69	0.40667	D	0.982181	P;P	0.43094	0.763;0.799	B;B	0.35971	0.215;0.202	T	0.03259	-1.1055	10	0.25751	T	0.34	-13.8695	17.0431	0.86495	0.1282:0.8718:0.0:0.0	.	251;251	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	251;11;251;11;11;11	ENSP00000346560:A251T;ENSP00000419642:A11T;ENSP00000327880:A251T;ENSP00000373192:A11T;ENSP00000419874:A11T	ENSP00000327880:A251T	A	-	1	0	FILIP1L	101052459	0.995000	0.38212	0.999000	0.59377	0.991000	0.79684	3.266000	0.51569	1.610000	0.50200	0.655000	0.94253	GCA		0.488	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		4	144	0	0	0	1	0	4	144					T	99569769	C	T	99569769	3	4	300	1	0	0	0	0	1	0	0	0	5895	739	26	2	2685	2	FILIP1L	3	99569769	Missense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		99569769	98452661	6	5248											
MANBA	4126	broad.mit.edu	37	4	103557044	103557044	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr4:103557044G>A	ENST00000226578.4	-	15	2234	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	MANBA_ENST00000505239.1_Missense_Mutation_p.S655L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	712					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CGAATAATCCGAGTGAAGATC	0.363																																						uc003hwg.3																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2134-2136)tCg>tTg		Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.							93	89	90					4																	103557044		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103557044G>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2135C>T	4.37:g.103557044G>A	ENSP00000226578:p.Ser712Leu		Somatic				MANBA_uc011ces.2_Missense_Mutation_p.S655L	p.S712L	NM_005908	NP_005899	WXS	Illumina GAIIx	Phase_I	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	14	2235	-		Hepatocellular(203;0.217)	712					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.2135C>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743432	0.30865	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.44083	0.93;0.93	5.42	-2.69	0.06022	.	1.532230	0.03442	N	0.209428	T	0.37073	0.0990	M	0.66939	2.045	0.09310	N	1	B;B	0.20459	0.045;0.002	B;B	0.08055	0.003;0.001	T	0.20605	-1.0270	10	0.33940	T	0.23	-2.4738	3.7975	0.08746	0.132:0.0904:0.3288:0.4488	.	655;712	E9PFW2;O00462	.;MANBA_HUMAN	L	712;655	ENSP00000226578:S712L;ENSP00000427322:S655L	ENSP00000226578:S712L	S	-	2	0	MANBA	103776092	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	-0.578000	0.05841	-0.047000	0.13423	-0.137000	0.14449	TCG		0.363	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			4	69	0	0	0	1	0	4	69					A	103557044	G	A	103557044	3	1	300	1	0	0	0	0	1	0	0	0	9219	1059	37	1	516	1	MANBA	4	103557044	Missense_Mutation	SNP	G	TCGA-ET-A25K-01A-11D-A16O-08		103557044	87597232	7	5249											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	41	0	0	0	1	0	23	41					T	140453136	A	T	140453136	3	4	300	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25K-01A-11D-A16O-08		140453136	18685527	8	5250											
RABEP1	9135	broad.mit.edu	37	17	5253769	5253769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr17:5253769C>T	ENST00000546142.2	+	7	995	c.808C>T	c.(808-810)Cga>Tga	p.R270*	RABEP1_ENST00000262477.6_Nonsense_Mutation_p.R270*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.R270*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.R227*|RABEP1_ENST00000341923.6_Nonsense_Mutation_p.R270*			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	270					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGAGCAAGAGCGACAACAACA	0.418																																						uc002gbm.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(808-810)Cga>Tga		Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.							79	78	79					17																	5253769		1909	4135	6044	SO:0001587	stop_gained	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity	g.chr17:5253769C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.808C>T	17.37:g.5253769C>T	ENSP00000437701:p.Arg270*		Somatic				RABEP1_uc010clc.1_Nonsense_Mutation_p.R263*|RABEP1_uc010cld.1_Nonsense_Mutation_p.R227*|RABEP1_uc010vsw.1_Nonsense_Mutation_p.R227*|RABEP1_uc002gbl.4_Nonsense_Mutation_p.R270*	p.R270*	NM_004703	NP_004694	WXS	Illumina GAIIx	Phase_I	Q15276	RABE1_HUMAN			6	1032	+			270					B2RAG7|O95369|Q8IVX3	Nonsense_Mutation	SNP	ENST00000546142.2	37	c.808C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	38	7.060520	0.98036	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-10.9027	13.54	0.61668	0.263:0.737:0.0:0.0	.	.	.	.	X	270;270;263;270;270;227	.	ENSP00000262477:R270X	R	+	1	2	RABEP1	5194493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.940000	0.49003	2.850000	0.98022	0.650000	0.86243	CGA		0.418	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		8	85	0	0	0	1	0	8	85					T	5253769	C	T	5253769	4	4	300	1	0	0	0	0	0	1	0	0	12961	760	27	1	834	1	RABEP1	17	5253769	Nonsense_Mutation	SNP	C	TCGA-ET-A25K-01A-11D-A16O-08		5253769	75941441	9	5251											
ZNF512B	57473	broad.mit.edu	37	20	62592689	62592689	+	Silent	SNP	T	T	C			TCGA-ET-A25K-01A-11D-A16O-08	TCGA-ET-A25K-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3aafad5c-a33b-4e15-bc2a-2cb2f0fe4207	030113e6-9473-4c38-8aaa-a0e3bd28c248	g.chr20:62592689T>C	ENST00000450537.1	-	16	2460	c.2400A>G	c.(2398-2400)aaA>aaG	p.K800K	ZNF512B_ENST00000217130.3_Silent_p.K800K|ZNF512B_ENST00000369888.1_Silent_p.K800K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	800					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGATGTGGTATTTGACGCCAC	0.647																																						uc002yhl.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2398-2400)aaA>aaG		Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.							104	90	95					20																	62592689		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62592689T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2400A>G	20.37:g.62592689T>C			Somatic					p.K800K	NM_020713	NP_065764	WXS	Illumina GAIIx	Phase_I	Q96KM6	Z512B_HUMAN			15	2454	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		800					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.2400A>G	CCDS13548.1																																																																																				0.647	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	56	0	0	0	1	0	3	56					C	62592689	T	C	62592689	2	2	300	1	0	0	0	0	0	0	0	1	17954	1490	52	3		3	ZNF512B	20	62592689	Silent	SNP	T	TCGA-ET-A25K-01A-11D-A16O-08		62592689	432831	10	5252											
SPAG17	200162	broad.mit.edu	37	1	118644485	118644485	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr1:118644485T>C	ENST00000336338.5	-	5	577	c.512A>G	c.(511-513)aAg>aGg	p.K171R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	171	Lys-rich.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTGGAGCCTTTTTCTCCTT	0.438																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(511-513)aAg>aGg		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							207	191	196					1																	118644485		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118644485T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.512A>G	1.37:g.118644485T>C	ENSP00000337804:p.Lys171Arg		Somatic					p.K171R	NM_206996	NP_996879	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	4	580	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	171			Lys-rich.		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.512A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403108	0.25291	.	.	ENSG00000155761	ENST00000336338	T	0.23754	1.89	5.39	4.18	0.49190	.	0.546163	0.18560	N	0.137643	T	0.25344	0.0616	L	0.42581	1.335	0.22500	N	0.999045	D	0.71674	0.998	D	0.66196	0.942	T	0.02698	-1.1122	10	0.56958	D	0.05	.	10.0216	0.42046	0.0:0.0:0.1691:0.8309	.	171	Q6Q759	SPG17_HUMAN	R	171	ENSP00000337804:K171R	ENSP00000337804:K171R	K	-	2	0	SPAG17	118446008	0.987000	0.35691	0.943000	0.38184	0.017000	0.09413	1.338000	0.33873	2.168000	0.68352	0.533000	0.62120	AAG		0.438	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		3	114	0	0	0	1	0	3	114					C	118644485	T	C	118644485	3	2	301	1	0	0	0	0	1	0	0	0	14979	1609	56	3	6335	3	SPAG17	1	118644485	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		118644485	130606136	1	5253											
NBEAL2	23218	broad.mit.edu	37	3	47030166	47030166	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr3:47030166T>C	ENST00000450053.3	+	2	238	c.59T>C	c.(58-60)cTg>cCg	p.L20P	NBEAL2_ENST00000292309.5_Missense_Mutation_p.L20P|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	20					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)		CAGAAGGACCTGGGTTACCTG	0.562																																						uc003cqp.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.(58-60)cTg>cCg		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							101	102	101					3																	47030166		2043	4177	6220	SO:0001583	missense	23218						binding	g.chr3:47030166T>C	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.59T>C	3.37:g.47030166T>C	ENSP00000415034:p.Leu20Pro		Somatic				NBEAL2_uc003cqq.1_Missense_Mutation_p.L13P	p.L20P	NM_015175	NP_055990	WXS	Illumina GAIIx	Phase_I	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	1	238	+		Acute lymphoblastic leukemia(5;0.0534)	20					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.59T>C	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491347	0.44249	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.56275	0.47;0.48	4.17	3.01	0.34805	.	.	.	.	.	T	0.50956	0.1646	N	0.20685	0.6	0.80722	D	1	D;P	0.89917	1.0;0.895	D;P	0.74674	0.984;0.467	T	0.47774	-0.9091	9	0.44086	T	0.13	.	5.6593	0.17660	0.0:0.2162:0.0:0.7838	.	13;20	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	P	20;20;13	ENSP00000292309:L20P;ENSP00000415034:L20P	ENSP00000292309:L20P	L	+	2	0	NBEAL2	47005170	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	3.894000	0.56250	0.661000	0.30985	0.459000	0.35465	CTG		0.562	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	110	0	0	0	1	0	3	110					C	47030166	T	C	47030166	3	2	301	1	0	0	0	0	1	0	0	0	10189	1580	55	3	65	3	NBEAL2	3	47030166	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		47030166	150992264	2	5254											
SEC24D	9871	broad.mit.edu	37	4	119754779	119754779	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr4:119754779G>A	ENST00000280551.6	-	2	311	c.73C>T	c.(73-75)Cat>Tat	p.H25Y	SEC24D_ENST00000379735.5_Missense_Mutation_p.H25Y|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	25	Pro-rich.				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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGCCCATAATGAGGTGGAGAA	0.443																																						uc003icj.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(73-75)Cat>Tat		Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.							165	151	156					4																	119754779		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119754779G>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.73C>T	4.37:g.119754779G>A	ENSP00000280551:p.His25Tyr		Somatic				SEC24D_uc003ici.4_Missense_Mutation_p.H25Y|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	p.H25Y	NM_014822	NP_055637	WXS	Illumina GAIIx	Phase_I	O94855	SC24D_HUMAN			1	345	-			25			Pro-rich.		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.73C>T	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096897	0.37048	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000503683	T;T;T	0.75938	-0.97;-0.98;0.82	6.02	4.29	0.51040	.	0.284754	0.40302	N	0.001122	T	0.58409	0.2120	L	0.27053	0.805	0.80722	D	1	B;B	0.22909	0.077;0.046	B;B	0.28011	0.085;0.039	T	0.50136	-0.8863	10	0.02654	T	1	-20.0949	12.0758	0.53643	0.0:0.0:0.6862:0.3138	.	25;25	O94855-2;O94855	.;SC24D_HUMAN	Y	25	ENSP00000280551:H25Y;ENSP00000369059:H25Y;ENSP00000426309:H25Y	ENSP00000280551:H25Y	H	-	1	0	SEC24D	119974227	0.999000	0.42202	0.607000	0.28956	0.914000	0.54420	2.845000	0.48254	0.856000	0.35383	0.650000	0.86243	CAT		0.443	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			41	64	0	0	0	1	0	41	64					A	119754779	G	A	119754779	3	1	301	1	0	0	0	0	1	0	0	0	13997	1290	45	2	3113	2	SEC24D	4	119754779	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08		119754779	71399497	3	5255											
OCLN	100506658	broad.mit.edu	37	5	68805542	68805542	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr5:68805542G>A	ENST00000355237.2	+	3	1061	c.625G>A	c.(625-627)Ggt>Agt	p.G209S	OCLN_ENST00000396442.2_Missense_Mutation_p.G209S|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.G209S	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	209	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)		ATCTCTATATGGTTCACAAAT	0.423																																						uc003jwu.3																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(625-627)Ggt>Agt		Homo sapiens occludin (OCLN), transcript variant 1, mRNA.							198	196	197					5																	68805542		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.chr5:68805542G>A	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.625G>A	5.37:g.68805542G>A	ENSP00000347379:p.Gly209Ser		Somatic				OCLN_uc003jwv.4_Missense_Mutation_p.G209S|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	p.G209S	NM_002538	NP_001192184	WXS	Illumina GAIIx	Phase_I	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)	2	1061	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	209			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.625G>A	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	6.806	0.517859	0.13005	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;D	0.83591	0.38;0.38;-1.74	5.81	-5.24	0.02789	Marvel (1);MARVEL-like domain (1);	0.662498	0.17321	N	0.178506	T	0.57036	0.2026	N	0.05574	-0.02	0.42351	D	0.992377	B	0.09022	0.002	B	0.11329	0.006	T	0.32561	-0.9902	10	0.11182	T	0.66	-40.9608	8.5879	0.33668	0.2281:0.0:0.5977:0.1742	.	209	Q16625	OCLN_HUMAN	S	209	ENSP00000347379:G209S;ENSP00000379719:G209S;ENSP00000370143:G209S	ENSP00000347379:G209S	G	+	1	0	OCLN	68841298	0.001000	0.12720	0.131000	0.22000	0.759000	0.43091	0.073000	0.14640	-0.630000	0.05567	0.650000	0.86243	GGT		0.423	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		76	97	0	0	0	1	0	76	97					A	68805542	G	A	68805542	3	1	301	1	0	0	0	0	1	0	0	0	10820	1348	47	2	631	2	OCLN	5	68805542	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08		68805542	112109718	4	5256											
MAS1L	116511	broad.mit.edu	37	6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	324					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.2																			1	Substitution - Missense(1)	p.R324G(2)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(970-972)Agg>Ggg		Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.							94	100	98					6																	29454710		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454710T>C	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.970A>G	6.37:g.29454710T>C	ENSP00000366331:p.Arg324Gly		Somatic					p.R324G	NM_052967	NP_443199	WXS	Illumina GAIIx	Phase_I	P35410	MAS1L_HUMAN			0	970	-			324					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.970A>G	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	T	7.400	0.632554	0.14322	.	.	ENSG00000204687	ENST00000377127	T	0.37584	1.19	2.36	-0.36	0.12568	.	.	.	.	.	T	0.14527	0.0351	L	0.39633	1.23	0.09310	N	1	B	0.29378	0.243	B	0.36845	0.234	T	0.38134	-0.9675	9	0.56958	D	0.05	.	8.1955	0.31394	0.0:0.0:0.4246:0.5754	.	324	P35410	MAS1L_HUMAN	G	324	ENSP00000366331:R324G	ENSP00000366331:R324G	R	-	1	2	MAS1L	29562689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.995000	0.03712	-0.236000	0.09753	-0.612000	0.04053	AGG		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		3	126	0	0	0	1	0	3	126					C	29454710	T	C	29454710	3	2	301	1	0	0	0	0	1	0	0	0	9321	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-ET-A25O-01A-11D-A17V-08		29454710	141660357	5	5257											
PKHD1	5314	broad.mit.edu	37	6	51900420	51900420	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr6:51900420G>A	ENST00000371117.3	-	28	3472	c.3197C>T	c.(3196-3198)tCa>tTa	p.S1066L	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1066L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1066	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATTCTGCTTGAATTGCTTGT	0.453																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3196-3198)tCa>tTa		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							147	133	138					6																	51900420		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900420G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3197C>T	6.37:g.51900420G>A	ENSP00000360158:p.Ser1066Leu		Somatic				PKHD1_uc003pai.3_Missense_Mutation_p.S1066L	p.S1066L	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			27	3473	-	Lung NSC(77;0.0605)		1066			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3197C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.636	1.137580	0.21123	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80653	-1.4;-1.4	5.69	4.63	0.57726	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.372474	0.23165	N	0.051193	T	0.64918	0.2642	M	0.62723	1.935	0.09310	N	1	P;P	0.44429	0.802;0.835	B;B	0.40864	0.231;0.342	T	0.62798	-0.6778	10	0.11182	T	0.66	.	14.6306	0.68653	0.0821:0.0:0.9179:0.0	.	1066;1066	P08F94-2;P08F94	.;PKHD1_HUMAN	L	1066	ENSP00000360158:S1066L;ENSP00000341097:S1066L	ENSP00000341097:S1066L	S	-	2	0	PKHD1	52008379	1.000000	0.71417	0.545000	0.28153	0.283000	0.27025	4.821000	0.62679	2.690000	0.91761	0.650000	0.86243	TCA		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		43	47	0	0	0	1	0	43	47					A	51900420	G	A	51900420	3	1	301	1	0	0	0	0	1	0	0	0	11971	1294	45	2	9226	2	PKHD1	6	51900420	Missense_Mutation	SNP	G	TCGA-ET-A25O-01A-11D-A17V-08	22445710	51900420	119214647	6	5258											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	20	0	0	0	1	0	15	20					T	140453136	A	T	140453136	3	4	301	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		140453136	18685527	7	5259											
LRIT1	26103	broad.mit.edu	37	10	85997395	85997395	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr10:85997395A>G	ENST00000372105.3	-	2	191	c.170T>C	c.(169-171)aTc>aCc	p.I57T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	57	LRRNT.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCGGGGGGATGGACGCCGG	0.667																																						uc001kcz.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(169-171)aTc>aCc		Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.							35	40	38					10																	85997395		2152	4185	6337	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85997395A>G	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.170T>C	10.37:g.85997395A>G	ENSP00000361177:p.Ile57Thr		Somatic					p.I57T	NM_015613	NP_056428	WXS	Illumina GAIIx	Phase_I	Q9P2V4	LRIT1_HUMAN			1	192	-			57			LRRNT.		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.170T>C	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.660654	0.47572	.	.	ENSG00000148602	ENST00000372105	T	0.40756	1.02	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (1);	0.434743	0.24443	N	0.038481	T	0.43897	0.1268	M	0.63843	1.955	0.44956	D	0.99797	B	0.33549	0.417	B	0.35182	0.197	T	0.47995	-0.9073	10	0.87932	D	0	.	13.0556	0.58977	1.0:0.0:0.0:0.0	.	57	Q9P2V4	LRIT1_HUMAN	T	57	ENSP00000361177:I57T	ENSP00000361177:I57T	I	-	2	0	LRIT1	85987375	1.000000	0.71417	0.147000	0.22382	0.487000	0.33371	8.888000	0.92464	2.079000	0.62486	0.533000	0.62120	ATC		0.667	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		3	72	0	0	0	1	0	3	72					G	85997395	A	G	85997395	3	3	301	1	0	0	0	0	1	0	0	0	8947	333	12	3	1713	3	LRIT1	10	85997395	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		85997395	49537352	8	5260											
NOLC1	9221	broad.mit.edu	37	10	103921613	103921613	+	Silent	SNP	A	A	T			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr10:103921613A>T	ENST00000605788.1	+	12	2107	c.1872A>T	c.(1870-1872)ccA>ccT	p.P624P	NOLC1_ENST00000488254.2_Silent_p.P625P|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000405356.1_Silent_p.P634P|NOLC1_ENST00000603742.1_Silent_p.P343P	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	624					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CATCATCCCCATTCCGAAGGG	0.473																																						uc001kup.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(1900-1902)ccA>ccT		Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.							71	68	69					10																	103921613		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921613A>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1872A>T	10.37:g.103921613A>T			Somatic				NOLC1_uc001kuo.2_Silent_p.P624P|NOLC1_uc001kuq.2_Silent_p.P625P|NOLC1_uc009xxb.1_Silent_p.P343P|NOLC1_uc001kur.2_Silent_p.P343P	p.P634P	NM_004741	NP_004732	WXS	Illumina GAIIx	Phase_I	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	11	2137	+		Colorectal(252;0.122)	624					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.1902A>T	CCDS7530.1																																																																																				0.473	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		24	40	0	0	0	1	0	24	40					T	103921613	A	T	103921613	2	4	301	1	0	0	0	0	0	0	0	1	10529	204	8	5		5	NOLC1	10	103921613	Silent	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08	17924218	103921613	31613134	9	5261											
MAN2C1	4123	broad.mit.edu	37	15	75660529	75660529	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr15:75660529C>T	ENST00000267978.5	-	2	158	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	MAN2C1_ENST00000565683.1_Missense_Mutation_p.A38T|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A38T|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000563622.1_Missense_Mutation_p.A38T|MAN2C1_ENST00000563539.1_5'UTR	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	38					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGCAGCTGGCCCCAAAAAGC	0.711																																						uc002bah.3																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(112-114)Gcc>Acc		Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.							8	10	10					15																	75660529		2105	4152	6257	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75660529C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.112G>A	15.37:g.75660529C>T	ENSP00000267978:p.Ala38Thr		Somatic				MAN2C1_uc010bkk.3_Missense_Mutation_p.A38T|MAN2C1_uc002baf.3_Missense_Mutation_p.A38T|MAN2C1_uc002bag.3_Missense_Mutation_p.A38T|MAN2C1_uc010umi.1_5'UTR|MAN2C1_uc010umj.1_Non-coding_Transcript|MAN2C1_uc010umk.1_Non-coding_Transcript	p.A38T			WXS	Illumina GAIIx	Phase_I	Q9NTJ4	MA2C1_HUMAN			1	129	-			38					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.112G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035264	0.19590	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.18174	2.23	5.1	3.14	0.36123	.	0.410909	0.24988	N	0.034014	T	0.11281	0.0275	L	0.31578	0.945	0.24941	N	0.991855	B;B;B	0.21753	0.06;0.06;0.06	B;B;B	0.22601	0.04;0.018;0.018	T	0.34079	-0.9843	10	0.14252	T	0.57	-5.3625	9.7064	0.40218	0.1596:0.6865:0.1539:0.0	.	38;38;38	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	T	38	ENSP00000267978:A38T	ENSP00000267978:A38T	A	-	1	0	MAN2C1	73447582	1.000000	0.71417	0.967000	0.41034	0.106000	0.19336	4.863000	0.62983	0.492000	0.27815	0.484000	0.47621	GCC		0.711	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			5	8	0	0	0	1	0	5	8					T	75660529	C	T	75660529	3	4	301	1	0	0	0	0	1	0	0	0	9218	739	26	2	3110	2	MAN2C1	15	75660529	Missense_Mutation	SNP	C	TCGA-ET-A25O-01A-11D-A17V-08		75660529	26870863	10	5262											
LRRC37A2	474170	broad.mit.edu	37	17	44626432	44626432	+	Missense_Mutation	SNP	A	A	C			TCGA-ET-A25O-01A-11D-A17V-08	TCGA-ET-A25O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a02689-c17c-4178-bdc1-20962476fefe	931159d9-99d5-4c5b-9200-8b6aac91918f	g.chr17:44626432A>C	ENST00000576629.1	+	10	4422	c.3927A>C	c.(3925-3927)aaA>aaC	p.K1309N	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.K1309N|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1309						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCTTTCACAAAACTCGCTCCC	0.428																																						uc002ikn.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(3925-3927)aaA>aaC		Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.							143	243	209					17																	44626432		2184	4296	6480	SO:0001583	missense	474170					integral to membrane		g.chr17:44626432A>C	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3927A>C	17.37:g.44626432A>C	ENSP00000459551:p.Lys1309Asn		Somatic				ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.K270N|LRRC37A2_uc010dax.2_Missense_Mutation_p.K239N	p.K1309N	NM_001006607	NP_001006608	WXS	Illumina GAIIx	Phase_I	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	8	3930	+		Melanoma(429;0.211)	1309					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.3927A>C	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	a	11.77	1.736711	0.30774	.	.	ENSG00000238083	ENST00000333412	T	0.60920	0.15	2.35	1.25	0.21368	.	.	.	.	.	T	0.60314	0.2259	L	0.40543	1.245	0.09310	N	1	D;P;P	0.57899	0.981;0.865;0.779	D;P;B	0.67231	0.95;0.615;0.311	T	0.46721	-0.9171	9	0.72032	D	0.01	.	3.6001	0.08021	0.7951:0.0:0.2049:0.0	.	1309;270;1309	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	N	1309	ENSP00000333071:K1309N	ENSP00000333071:K1309N	K	+	3	2	LRRC37A2	41981748	0.000000	0.05858	0.015000	0.15790	0.017000	0.09413	0.488000	0.22371	1.090000	0.41315	0.147000	0.16070	AAA		0.428	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		68	243	0	0	0	1	0	68	243					C	44626432	A	C	44626432	3	2	301	1	0	0	0	0	1	0	0	0	8992	11	1	5	3961	5	LRRC37A2	17	44626432	Missense_Mutation	SNP	A	TCGA-ET-A25O-01A-11D-A17V-08		44626432	36568778	11	5263											
CCDC30	728621	broad.mit.edu	37	1	43047065	43047065	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:43047065A>G	ENST00000340612.4	+	7	1100	c.1100A>G	c.(1099-1101)cAt>cGt	p.H367R	CCDC30_ENST00000507855.1_Missense_Mutation_p.H156R|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367R|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156R|CCDC30_ENST00000428554.2_Missense_Mutation_p.H367R			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	367						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAACATGCTCATAAAGTCTGT	0.348																																						uc009vwk.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1099-1101)cAt>cGt		Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.							93	95	94					1																	43047065		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43047065A>G	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1100A>G	1.37:g.43047065A>G	ENSP00000340378:p.His367Arg		Somatic				CCDC30_uc001chm.2_Missense_Mutation_p.H65R|CCDC30_uc001chn.2_Missense_Mutation_p.H156R|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Missense_Mutation_p.H181R	p.H367R	NM_001080850	NP_001074319	WXS	Illumina GAIIx	Phase_I	Q5VVM6	CCD30_HUMAN			7	1210	+			367					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1100A>G	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	A	9.623	1.134253	0.21123	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.48522	0.81;0.83;0.81;0.81;0.83	5.65	0.976	0.19727	.	0.550040	0.19977	N	0.101853	T	0.22859	0.0552	N	0.16656	0.425	0.09310	N	1	B;B;B	0.12013	0.002;0.0;0.005	B;B;B	0.06405	0.001;0.001;0.002	T	0.13548	-1.0505	10	0.13853	T	0.58	.	4.0457	0.09771	0.6202:0.0:0.2323:0.1475	.	367;151;156	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	R	367;156;367;367;156	ENSP00000397035:H367R;ENSP00000426711:H156R;ENSP00000340378:H367R;ENSP00000339280:H367R;ENSP00000375051:H156R	ENSP00000340378:H367R	H	+	2	0	CCDC30	42819652	0.333000	0.24731	0.029000	0.17559	0.956000	0.61745	1.096000	0.30976	0.289000	0.22422	0.528000	0.53228	CAT		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		6	88	0	0	0	1	0	6	88					G	43047065	A	G	43047065	3	3	302	1	0	0	0	0	1	0	0	0	2805	217	8	3	1126	3	CCDC30	1	43047065	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		43047065	206203556	1	5264											
ANKRD35	148741	broad.mit.edu	37	1	145561416	145561416	+	Silent	SNP	C	C	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr1:145561416C>T	ENST00000355594.4	+	10	1191	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	368										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGGGATGGCATGGAGCAGG	0.567																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1102-1104)ggC>ggT		Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.							37	38	38					1																	145561416		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561416C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1104C>T	1.37:g.145561416C>T			Somatic				ANKRD35_uc010oyx.1_Silent_p.G211G	p.G368G	NM_144698	NP_653299	WXS	Illumina GAIIx	Phase_I	Q8N283	ANR35_HUMAN			9	1212	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		368					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.1104C>T	CCDS919.1																																																																																				0.567	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		17	19	0	0	0	1	0	17	19					T	145561416	C	T	145561416	2	4	302	1	0	0	0	0	0	0	0	1	664	697	25	2		2	ANKRD35	1	145561416	Silent	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08	102514351	145561416	103689205	2	5265											
TMCC1	23023	broad.mit.edu	37	3	129389296	129389296	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr3:129389296A>T	ENST00000393238.3	-	4	1728	c.1388T>A	c.(1387-1389)cTa>cAa	p.L463Q	TMCC1_ENST00000432054.2_Missense_Mutation_p.L139Q|TMCC1_ENST00000426664.2_Missense_Mutation_p.L349Q|TMCC1_ENST00000329333.5_Missense_Mutation_p.L284Q	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	463						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GATCTCATGTAGTAGTGCATC	0.502																																						uc021xdy.1																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1387-1389)cTa>cAa		Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.							115	111	112					3																	129389296		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389296A>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1388T>A	3.37:g.129389296A>T	ENSP00000376930:p.Leu463Gln		Somatic				TMCC1_uc003emy.4_Missense_Mutation_p.L139Q|TMCC1_uc011blc.2_Missense_Mutation_p.L284Q|TMCC1_uc010htg.3_Missense_Mutation_p.L349Q	p.L463Q	NM_001017395	NP_001121696	WXS	Illumina GAIIx	Phase_I	O94876	TMCC1_HUMAN			3	1822	-			463					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1388T>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087192	0.76642	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.992;0.999	T	0.63296	-0.6669	10	0.13108	T	0.6	-16.0413	15.6252	0.76851	1.0:0.0:0.0:0.0	.	284;463	B4DE04;O94876	.;TMCC1_HUMAN	Q	139;463;349;284	ENSP00000404711:L139Q;ENSP00000376930:L463Q;ENSP00000389892:L349Q;ENSP00000327349:L284Q	ENSP00000327349:L284Q	L	-	2	0	TMCC1	130871986	1.000000	0.71417	0.961000	0.40146	0.998000	0.95712	9.227000	0.95236	2.155000	0.67459	0.482000	0.46254	CTA		0.502	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	122	0	0	0	1	0	9	122					T	129389296	A	T	129389296	3	4	302	1	0	0	0	0	1	0	0	0	15989	420	15	5	585	5	TMCC1	3	129389296	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		129389296	68633134	3	5266											
ADH7	131	broad.mit.edu	37	4	100341811	100341811	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:100341811A>T	ENST00000209665.4	-	6	980	c.740T>A	c.(739-741)gTa>gAa	p.V247E	ADH7_ENST00000482593.1_Missense_Mutation_p.V178E|ADH7_ENST00000476959.1_Missense_Mutation_p.V255E|ADH7_ENST00000437033.2_Missense_Mutation_p.V235E	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	247					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		AGTGGCACCTACAGCCATGGC	0.488																																						uc021xqj.1																			0		p.P255P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(763-765)gTa>gAa		Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 1, mRNA.	NADH(DB00157)						179	148	159					4																	100341811		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341811A>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.740T>A	4.37:g.100341811A>T	ENSP00000209665:p.Val247Glu		Somatic				ADH7_uc003huv.2_Missense_Mutation_p.V247E	p.V255E	NM_001166504	NP_001159976	WXS	Illumina GAIIx	Phase_I	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	5	794	-			247					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.764T>A	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.698898	0.48307	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	3.8	3.8	0.43715	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.421442	0.23894	N	0.043502	T	0.18509	0.0444	M	0.72118	2.19	0.09310	N	0.999994	D	0.55800	0.973	D	0.70016	0.967	T	0.01015	-1.1480	10	0.87932	D	0	-37.7323	12.722	0.57147	1.0:0.0:0.0:0.0	.	247	P40394	ADH7_HUMAN	E	235;247;178;255	ENSP00000414254:V235E;ENSP00000209665:V247E;ENSP00000420613:V178E;ENSP00000420269:V255E	ENSP00000209665:V247E	V	-	2	0	ADH7	100560834	0.479000	0.25925	0.002000	0.10522	0.348000	0.29142	5.261000	0.65496	1.576000	0.49790	0.460000	0.39030	GTA		0.488	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		19	27	0	0	0	1	0	19	27					T	100341811	A	T	100341811	3	4	302	1	0	0	0	0	1	0	0	0	313	391	14	5	436	5	ADH7	4	100341811	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		100341811	90812465	4	5267											
WDR17	116966	broad.mit.edu	37	4	177095771	177095771	+	Silent	SNP	T	T	C			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:177095771T>C	ENST00000280190.4	+	28	3624	c.3468T>C	c.(3466-3468)gcT>gcC	p.A1156A	WDR17_ENST00000393643.2_Silent_p.A1132A|WDR17_ENST00000508596.1_Silent_p.A1117A|WDR17_ENST00000507824.2_Silent_p.A1131A			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1156										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTTAGAGCTCGAAATGAGT	0.333																																						uc003iuj.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3466-3468)gcT>gcC		Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.							103	99	101					4																	177095771		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177095771T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3468T>C	4.37:g.177095771T>C			Somatic				WDR17_uc003ium.4_Silent_p.A1117A|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Silent_p.A367A	p.A1156A	NM_170710	NP_733828	WXS	Illumina GAIIx	Phase_I	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	27	3771	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1156					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.3468T>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	9.024	0.985723	0.18889	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.14	-6.11	0.02131	.	.	.	.	.	T	0.39600	0.1084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46062	-0.9218	4	.	.	.	-21.7067	4.4273	0.11509	0.0921:0.1302:0.4328:0.3449	.	.	.	.	P	391	.	.	S	+	1	0	WDR17	177332765	0.004000	0.15560	0.982000	0.44146	0.819000	0.46315	-1.276000	0.02815	-0.533000	0.06323	-0.342000	0.07992	TCG		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			10	41	0	0	0	1	0	10	41					C	177095771	T	C	177095771	2	2	302	1	0	0	0	0	0	0	0	1	17274	1538	54	3		3	WDR17	4	177095771	Silent	SNP	T	TCGA-ET-A25R-01A-11D-A17V-08	76753960	177095771	14058505	5	5268											
FAT1	2195	broad.mit.edu	37	4	187628248	187628248	+	Missense_Mutation	SNP	C	C	T	rs200097846		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr4:187628248C>T	ENST00000441802.2	-	2	2943	c.2734G>A	c.(2734-2736)Gtt>Att	p.V912I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	912	Cadherin 7. {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						ACTTTCACAACGACAGTGGAG	0.488										HNSCC(5;0.00058)			C|||	1	0.000199681	0	0	5008	,	,		21992	0		0.001	False		,,,				2504	0				Colon(197;1040 2055 4143 4984 49344)	uc003izf.3																			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.(2734-2736)Gtt>Att		Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.		C	ILE/VAL	0,3946		0,0,1973	179	175	176		2734	2.0	0.0	4		176	4,8338		0,4,4167	yes	missense	FAT1	NM_005245.3	29	0,4,6140	TT,TC,CC		0.048,0.0,0.0326	benign	912/4589	187628248	4,12284	1973	4171	6144	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.chr4:187628248C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2734G>A	4.37:g.187628248C>T	ENSP00000406229:p.Val912Ile	HNSCC(5;0.00058)	Somatic				FAT1_uc010iso.1_Missense_Mutation_p.V912I	p.V912I	NM_005245	NP_005236	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			1	2922	-			912			Cadherin 7.			Missense_Mutation	SNP	ENST00000441802.2	37	c.2734G>A	CCDS47177.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.005	-2.219767	0.00286	0.0	4.8E-4	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52526	0.66	4.67	1.97	0.26223	Cadherin (5);Cadherin-like (1);	0.363695	0.27896	N	0.017416	T	0.26702	0.0653	N	0.21324	0.655	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11867	-1.0570	10	0.24483	T	0.36	.	4.5886	0.12295	0.0738:0.1238:0.411:0.3914	.	912	Q14517	FAT1_HUMAN	I	912	ENSP00000406229:V912I	ENSP00000260147:V912I	V	-	1	0	FAT1	187865242	0.179000	0.23135	0.002000	0.10522	0.011000	0.07611	0.714000	0.25808	0.285000	0.22329	-1.472000	0.01007	GTT		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	222	0	0	0	1	0	16	222					T	187628248	C	T	187628248	3	4	302	1	0	0	0	0	1	0	0	0	5689	536	19	1	11136	1	FAT1	4	187628248	Missense_Mutation	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08	10532477	187628248	3526028	6	5269											
GPR98	84059	broad.mit.edu	37	5	89979771	89979771	+	Silent	SNP	C	C	T			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr5:89979771C>T	ENST00000405460.2	+	28	6129	c.6033C>T	c.(6031-6033)gtC>gtT	p.V2011V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2011	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGAAAAGTCCTTGTCTCAT	0.378																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6031-6033)gtC>gtT		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							65	61	62					5																	89979771		1865	4096	5961	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:89979771C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6033C>T	5.37:g.89979771C>T			Somatic				GPR98_uc003kjt.3_5'UTR	p.V2011V	NM_032119	NP_115495	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	27	6129	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2011					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6033C>T	CCDS47246.1																																																																																				0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	30	0	0	0	1	0	3	30					T	89979771	C	T	89979771	2	4	302	1	0	0	0	0	0	0	0	1	6721	842	30	2		2	GPR98	5	89979771	Silent	SNP	C	TCGA-ET-A25R-01A-11D-A17V-08		89979771	90935489	7	5270											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	32	0	0	0	1	0	18	32					T	140453136	A	T	140453136	3	4	302	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		140453136	18685527	8	5271											
PRSS55	203074	broad.mit.edu	37	8	10387076	10387076	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr8:10387076A>G	ENST00000328655.3	+	2	254	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	PRSS55_ENST00000522210.1_Missense_Mutation_p.M72V|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	72	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CACAGGGGGGATGGAGGCGGA	0.507																																						uc003wta.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(214-216)Atg>Gtg		Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.							211	209	209					8																	10387076		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387076A>G	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.214A>G	8.37:g.10387076A>G	ENSP00000333003:p.Met72Val		Somatic				AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.M72V|PRSS55_uc003wtb.3_Non-coding_Transcript	p.M72V	NM_198464	NP_940866	WXS	Illumina GAIIx	Phase_I	Q6UWB4	PRS55_HUMAN			1	254	+			72			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.214A>G	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.894741	0.00522	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88124	-2.34;-2.34	3.96	-3.68	0.04463	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.60366	0.2263	N	0.01122	-1.005	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52675	-0.8544	9	0.27082	T	0.32	.	5.6072	0.17387	0.2951:0.477:0.2278:0.0	.	72	Q6UWB4	PRS55_HUMAN	V	72	ENSP00000333003:M72V;ENSP00000430459:M72V	ENSP00000333003:M72V	M	+	1	0	PRSS55	10424486	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.150000	0.10189	-0.654000	0.05394	-1.556000	0.00890	ATG		0.507	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		4	306	0	0	0	1	0	4	306					G	10387076	A	G	10387076	3	3	302	1	0	0	0	0	1	0	0	0	12634	333	12	3	220	3	PRSS55	8	10387076	Missense_Mutation	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		10387076	135976946	9	5272											
ITGA8	8516	broad.mit.edu	37	10	15646258	15646258	+	Silent	SNP	A	A	G			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr10:15646258A>G	ENST00000378076.3	-	20	2420	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	689					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						GTATCATTACAAAGAGTTCAG	0.368																																						uc001ioc.1																			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.(2065-2067)ttT>ttC		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							228	184	199					10																	15646258		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15646258A>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2067T>C	10.37:g.15646258A>G			Somatic				ITGA8_uc010qcb.1_Silent_p.F674F	p.F689F	NM_003638	NP_003629	WXS	Illumina GAIIx	Phase_I	P53708	ITA8_HUMAN			19	2067	-			689					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2067T>C	CCDS31155.1																																																																																				0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		27	31	0	0	0	1	0	27	31					G	15646258	A	G	15646258	2	3	302	1	0	0	0	0	0	0	0	1	7882	127	5	3		3	ITGA8	10	15646258	Silent	SNP	A	TCGA-ET-A25R-01A-11D-A17V-08		15646258	119888489	10	5273											
UBQLN3	50613	broad.mit.edu	37	11	5530349	5530349	+	Missense_Mutation	SNP	T	T	C	rs202005672		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr11:5530349T>C	ENST00000311659.4	-	2	587	c.440A>G	c.(439-441)tAt>tGt	p.Y147C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	147										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCCACGATAGGCCAAGCC	0.587																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(439-441)tAt>tGt		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							45	42	43					11																	5530349		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530349T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.440A>G	11.37:g.5530349T>C	ENSP00000347997:p.Tyr147Cys		Somatic				HBG1_uc001mak.1_Intron|UBQLN3_uc021qcw.1_Missense_Mutation_p.Y147C	p.Y147C	NM_017481	NP_059509	WXS	Illumina GAIIx	Phase_I	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	526	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	147					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.440A>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	T	3.227	-0.158354	0.06544	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.52754	1.22;0.65	5.59	3.71	0.42584	.	0.501099	0.16862	N	0.196492	T	0.24353	0.0590	N	0.03608	-0.345	0.21697	N	0.999583	B	0.02656	0.0	B	0.04013	0.001	T	0.17623	-1.0363	10	0.54805	T	0.06	-2.1492	9.1298	0.36839	0.0777:0.0:0.7739:0.1484	.	147	Q9H347	UBQL3_HUMAN	C	147	ENSP00000347997:Y147C;ENSP00000412561:Y147C	ENSP00000347997:Y147C	Y	-	2	0	UBQLN3	5486925	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	6.594000	0.74104	0.832000	0.34804	-0.261000	0.10672	TAT		0.587	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		3	63	0	0	0	1	0	3	63					C	5530349	T	C	5530349	3	2	302	1	0	0	0	0	1	0	0	0	16895	1406	49	3	1531	3	UBQLN3	11	5530349	Missense_Mutation	SNP	T	TCGA-ET-A25R-01A-11D-A17V-08		5530349	129476167	11	5274											
MESP1	55897	broad.mit.edu	37	15	90293428	90293429	+	Missense_Mutation	DNP	CC	CC	TT	rs373208803		TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr15:90293428_90293429CC>TT	ENST00000300057.4	-	2	831_832	c.753_754GG>AA	c.(751-756)ttGGag>ttAAag	p.E252K	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	252					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ATCCAGGTCTCCAACAGAGCCA	0.649																																						uc002bol.3																			0				NS(1)|kidney(1)	2						c.(751-756)ttggag>ttAAag		Homo sapiens mesoderm posterior 1 homolog (mouse) (MESP1), mRNA.																																				SO:0001583	missense	55897				Notch signaling pathway|cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|positive regulation of Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293428_90293429CC>TT		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"Basic helix-loop-helix proteins"	29658	protein-coding gene	gene with protein product		608689	"mesoderm posterior 1 homolog (mouse)"			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.753_754delinsTT	15.37:g.90293428_90293429delinsTT	ENSP00000300057:p.Glu252Lys		Somatic					p.E252K	NM_018670	NP_061140	WXS	Illumina GAIIx	Phase_I	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	831_832	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		252					Q9NSF1|Q9NSF2	Missense_Mutation	DNP	ENST00000300057.4	37	c.753_754GG>AA	CCDS10355.1																																																																																				0.649	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		6	113	0	0	0	1	0	6	113					TT	90293429	CC	TT	90293428	3	4	302	1	0	0	0	0	1	0	0	0	9482	864	30	2	56	2	MESP1	15	90293428	Missense_Mutation	DNP	CC	TCGA-ET-A25R-01A-11D-A17V-08		90293428	12237964	12	5275											
TNRC6B	23112	broad.mit.edu	37	22	40708536	40708536	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25R-01A-11D-A17V-08	TCGA-ET-A25R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba105f67-2809-45d2-ac53-fd960b8b96af	8cf170a9-ea18-44a0-8a75-086603edd88e	g.chr22:40708536G>A	ENST00000454349.2	+	18	4674	c.4463G>A	c.(4462-4464)gGt>gAt	p.G1488D	TNRC6B_ENST00000402203.1_Missense_Mutation_p.G684D|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G1378D|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G684D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1488	PABPC1-interacting motif-2 (PAM2).|Silencing domain; interaction with CNOT1 and PAN3.				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)|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)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCATGGAAAGGTATCCAAAAC	0.423																																						uc011aor.2																			0				breast(1)	1						c.(4462-4464)gGt>gAt		Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.							82	81	82					22																	40708536		2013	4194	6207	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding	g.chr22:40708536G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4463G>A	22.37:g.40708536G>A	ENSP00000401946:p.Gly1488Asp		Somatic				TNRC6B_uc003aym.3_Missense_Mutation_p.G684D|TNRC6B_uc003ayn.4_Missense_Mutation_p.G1378D|TNRC6B_uc003ayo.3_Missense_Mutation_p.G1235D	p.G1488D	NM_001162501	NP_001155973	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			17	4674	+			1488					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4463G>A	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.185277|5.185277	0.94885|0.94885	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.69806|.	-0.43;-0.43;0.92;0.87|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82669|0.82669	0.5087|0.5087	M|M	0.85373|0.85373	2.75|2.75	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|.	0.91635|.	0.998;0.998;0.999;0.998|.	D|D	0.84642|0.84642	0.0696|0.0696	10|5	0.87932|.	D|.	0|.	-6.0511|-6.0511	18.6553|18.6553	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1488;1378;1378;684|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	D|I	684;684;1488;1378;1378|1174	ENSP00000306759:G684D;ENSP00000384795:G684D;ENSP00000401946:G1488D;ENSP00000338371:G1378D|.	ENSP00000306759:G684D|.	G|V	+|+	2|1	0|0	TNRC6B|TNRC6B	39038482|39038482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.801000|9.801000	0.99128|0.99128	2.405000|2.405000	0.81733|0.81733	0.655000|0.655000	0.94253|0.94253	GGT|GTA		0.423	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				26	56	0	0	0	1	0	26	56					A	40708536	G	A	40708536	3	1	302	1	0	0	0	0	1	0	0	0	16338	1261	44	2	4654	2	TNRC6B	22	40708536	Missense_Mutation	SNP	G	TCGA-ET-A25R-01A-11D-A17V-08		40708536	10596030	13	5276											
CNR2	1269	broad.mit.edu	37	1	24201958	24201958	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:24201958C>G	ENST00000374472.4	-	2	311	c.150G>C	c.(148-150)gaG>gaC	p.E50D	CNR2_ENST00000536471.1_Missense_Mutation_p.E50D	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	50					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.E50E(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557																																						uc001bif.3																			2	Substitution - coding silent(2)	p.E50E(3)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(148-150)gaG>gaC		Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	Nabilone(DB00486)						82	84	84					1																	24201958		2203	4300	6503	SO:0001583	missense	1269				G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201958C>G	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.150G>C	1.37:g.24201958C>G	ENSP00000363596:p.Glu50Asp		Somatic				CNR2_uc021oij.1_Missense_Mutation_p.E50D	p.E50D	NM_001841	NP_001832	WXS	Illumina GAIIx	Phase_I	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	1	277	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	50					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.150G>C	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475427	0.63737	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.37584	1.19;1.19	6.04	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.146462	0.64402	D	0.000011	T	0.61160	0.2325	M	0.82517	2.595	0.45690	D	0.9986	D	0.59357	0.985	D	0.70935	0.971	T	0.65990	-0.6034	10	0.87932	D	0	.	12.5506	0.56223	0.0:0.8666:0.0:0.1334	.	50	P34972	CNR2_HUMAN	D	50	ENSP00000363596:E50D;ENSP00000442830:E50D	ENSP00000363596:E50D	E	-	3	2	CNR2	24074545	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	2.181000	0.42547	0.893000	0.36288	0.561000	0.74099	GAG		0.557	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		6	67	0	0	0	1	0	6	67					G	24201958	C	G	24201958	3	3	303	1	0	0	0	0	1	0	0	0	3632	912	32	4	936	4	CNR2	1	24201958	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		24201958	225048663	1	5277											
JUN	3725	broad.mit.edu	37	1	59248693	59248693	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:59248693G>A	ENST00000371222.2	-	1	1092	c.50C>T	c.(49-51)tCg>tTg	p.S17L	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	17					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|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 transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CGGGAGGAACGAGGCGTTGAG	0.552			A		sarcoma																																	uc001cze.3				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(49-51)tCg>tTg		Homo sapiens jun proto-oncogene (JUN), mRNA.	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						100	109	106					1																	59248693		2203	4300	6503	SO:0001583	missense	3725				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein import into nucleus|SMAD protein signal transduction|Toll signaling pathway|innate immune response|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248693G>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.50C>T	1.37:g.59248693G>A	ENSP00000360266:p.Ser17Leu		Somatic				LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	p.S17L	NM_002228	NP_002219	WXS	Illumina GAIIx	Phase_I	P05412	JUN_HUMAN			0	1093	-	all_cancers(7;8.55e-07)		17					Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	c.50C>T	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.107947	0.37242	.	.	ENSG00000177606	ENST00000371222	T	0.25749	1.78	3.96	3.96	0.45880	Jun-like transcription factor (1);	0.384233	0.21115	U	0.079915	T	0.21145	0.0509	L	0.43152	1.355	0.27523	N	0.951342	P	0.35944	0.529	B	0.29440	0.102	T	0.20974	-1.0259	10	0.66056	D	0.02	-3.7817	13.5506	0.61730	0.0:0.1693:0.8307:0.0	.	17	P05412	JUN_HUMAN	L	17	ENSP00000360266:S17L	ENSP00000360266:S17L	S	-	2	0	JUN	59021281	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.874000	0.56101	2.185000	0.69588	0.462000	0.41574	TCG		0.552	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		15	128	0	0	0	1	0	15	128					A	59248693	G	A	59248693	3	1	303	1	0	0	0	0	1	0	0	0	7969	1059	37	1	949	1	JUN	1	59248693	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	35046735	59248693	190001928	2	5278											
FLG2	388698	broad.mit.edu	37	1	152325779	152325779	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:152325779C>T	ENST00000388718.5	-	3	4555	c.4483G>A	c.(4483-4485)Gga>Aga	p.G1495R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1495					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTTCTTCCAGTTGTACTG	0.522																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4483-4485)Gga>Aga		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							339	328	332					1																	152325779		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325779C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4483G>A	1.37:g.152325779C>T	ENSP00000373370:p.Gly1495Arg		Somatic				AK056431_uc001ezv.3_Intron	p.G1495R	NM_001014342	NP_001014364	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4556	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1495					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4483G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	4.901	0.167426	0.09339	.	.	ENSG00000143520	ENST00000388718	T	0.01767	4.65	2.93	-3.95	0.04118	.	.	.	.	.	T	0.00552	0.0018	M	0.72118	2.19	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48175	-0.9058	9	0.17369	T	0.5	0.0188	0.7405	0.00973	0.1529:0.2764:0.2083:0.3624	.	1495	Q5D862	FILA2_HUMAN	R	1495	ENSP00000373370:G1495R	ENSP00000373370:G1495R	G	-	1	0	FLG2	150592403	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.559000	0.00922	-0.759000	0.04684	0.297000	0.19635	GGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	414	0	0	0	1	0	10	414					T	152325779	C	T	152325779	3	4	303	1	0	0	0	0	1	0	0	0	5923	603	21	2	2696	2	FLG2	1	152325779	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	93077086	152325779	96924842	3	5279											
ABL2	27	broad.mit.edu	37	1	179077163	179077163	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077163G>C	ENST00000502732.1	-	12	3442	c.3239C>G	c.(3238-3240)tCa>tGa	p.S1080*	ABL2_ENST00000408940.3_Nonsense_Mutation_p.S1044*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.S1059*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.S956*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.S977*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.S941*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.S962*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.S1065*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1080	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGTCTGCTGAGATTTTCTC	0.532			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3238-3240)tCa>tGa		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						54	51	52					1																	179077163		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077163G>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3239C>G	1.37:g.179077163G>C	ENSP00000427562:p.Ser1080*		Somatic				ABL2_uc010pnf.2_Nonsense_Mutation_p.S977*|ABL2_uc010png.2_Nonsense_Mutation_p.S956*|ABL2_uc010pnh.2_Nonsense_Mutation_p.S1059*|ABL2_uc001gmg.4_Nonsense_Mutation_p.S962*|ABL2_uc001gmi.4_Nonsense_Mutation_p.S1065*|ABL2_uc010pne.2_Nonsense_Mutation_p.S941*	p.S1080*	NM_007314	NP_009298	WXS	Illumina GAIIx	Phase_I	P42684	ABL2_HUMAN			11	3526	-			1080			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.3239C>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	37	6.210778	0.97380	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	.	.	.	5.35	5.35	0.76521	.	0.201841	0.26029	N	0.026771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	.	.	.	X	1080;1044;962;1065;941;1059;956;977	.	ENSP00000339209:S962X	S	-	2	0	ABL2	177343786	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.428000	0.97476	2.655000	0.90218	0.655000	0.94253	TCA		0.532	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		8	37	0	0	0	1	0	8	37					C	179077163	G	C	179077163	4	2	303	1	0	0	0	0	0	1	0	0	93	1294	45	4	313	4	ABL2	1	179077163	Nonsense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	26751384	179077163	70173458	4	5280											
ABL2	27	broad.mit.edu	37	1	179077269	179077269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077269G>A	ENST00000502732.1	-	12	3336	c.3133C>T	c.(3133-3135)Caa>Taa	p.Q1045*	ABL2_ENST00000408940.3_Nonsense_Mutation_p.Q1009*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.Q1024*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.Q921*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.Q942*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.Q906*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.Q927*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.Q1030*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1045	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAGGCACTTGAGGTGGAGGC	0.552			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3133-3135)Caa>Taa		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						85	81	82					1																	179077269		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077269G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3133C>T	1.37:g.179077269G>A	ENSP00000427562:p.Gln1045*		Somatic				ABL2_uc010pnf.2_Nonsense_Mutation_p.Q942*|ABL2_uc010png.2_Nonsense_Mutation_p.Q921*|ABL2_uc010pnh.2_Nonsense_Mutation_p.Q1024*|ABL2_uc001gmg.4_Nonsense_Mutation_p.Q927*|ABL2_uc001gmi.4_Nonsense_Mutation_p.Q1030*|ABL2_uc010pne.2_Nonsense_Mutation_p.Q906*	p.Q1045*	NM_007314	NP_009298	WXS	Illumina GAIIx	Phase_I	P42684	ABL2_HUMAN			11	3420	-			1045			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.3133C>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	37	6.018564	0.97205	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	.	.	.	5.35	5.35	0.76521	.	0.000000	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	.	.	.	X	1045;1009;927;1030;906;1024;921;942	.	ENSP00000339209:Q927X	Q	-	1	0	ABL2	177343892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.655000	0.90218	0.655000	0.94253	CAA		0.552	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		10	91	0	0	0	1	0	10	91					A	179077269	G	A	179077269	4	1	303	1	0	0	0	0	0	1	0	0	93	1299	45	2	419	2	ABL2	1	179077269	Nonsense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	106	179077269	70173352	5	5281											
RNF2	6045	broad.mit.edu	37	1	185060797	185060797	+	Missense_Mutation	SNP	G	G	C	rs144442502		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:185060797G>C	ENST00000367510.3	+	3	462	c.174G>C	c.(172-174)ttG>ttC	p.L58F	RNF2_ENST00000367509.4_Missense_Mutation_p.L58F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	58	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)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TGGATATGTTGAAGAACACCA	0.388																																						uc001grc.1																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(172-174)ttG>ttC		Homo sapiens ring finger protein 2 (RNF2), mRNA.							201	182	188					1																	185060797		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185060797G>C	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.174G>C	1.37:g.185060797G>C	ENSP00000356480:p.Leu58Phe		Somatic				RNF2_uc001grd.1_Missense_Mutation_p.L58F	p.L58F	NM_007212	NP_009143	WXS	Illumina GAIIx	Phase_I	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	2	407	+		Breast(1374;0.000496)	58			Interaction with HIP2.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.174G>C	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747391	0.69533	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T;T	0.67523	-0.27;-0.27;-0.27	4.66	2.73	0.32206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	N	0.21448	0.665	0.80722	D	1	P;D	0.89917	0.935;1.0	P;D	0.85130	0.78;0.997	T	0.57636	-0.7777	10	0.18710	T	0.47	-21.6729	7.0145	0.24881	0.219:0.1269:0.654:0.0	.	58;58	B3KRH1;Q99496	.;RING2_HUMAN	F	58	ENSP00000356480:L58F;ENSP00000356479:L58F;ENSP00000400722:L58F	ENSP00000356479:L58F	L	+	3	2	RNF2	183327420	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.009000	0.49552	0.482000	0.27582	0.650000	0.86243	TTG		0.388	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		7	141	0	0	0	1	0	7	141					C	185060797	G	C	185060797	3	2	303	1	0	0	0	0	1	0	0	0	13472	1281	45	4	180	4	RNF2	1	185060797	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	5983528	185060797	64189824	6	5282											
CACNA1S	779	broad.mit.edu	37	1	201009764	201009764	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:201009764G>A	ENST00000362061.3	-	42	5438	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1719S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1738					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGGGGCAGGAGGTGCCTGG	0.607																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5212-5214)Cct>Tct		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						51	47	48					1																	201009764		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009764G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5212C>T	1.37:g.201009764G>A	ENSP00000355192:p.Pro1738Ser		Somatic					p.P1738S	NM_000069	NP_000060	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			41	5439	-			1738					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5212C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	9.671	1.146603	0.21288	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95724	-3.79;-3.73	4.47	-2.5	0.06384	.	7739.210000	0.00166	N	0.000000	D	0.88555	0.6468	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78532	-0.2168	10	0.18276	T	0.48	.	1.3938	0.02256	0.1291:0.3207:0.2247:0.3255	.	1738	Q13698	CAC1S_HUMAN	S	1738;1719	ENSP00000355192:P1738S;ENSP00000356307:P1719S	ENSP00000355192:P1738S	P	-	1	0	CACNA1S	199276387	0.078000	0.21339	0.002000	0.10522	0.119000	0.20118	0.608000	0.24223	-0.011000	0.14247	0.585000	0.79938	CCT		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	57	0	0	0	1	0	4	57					A	201009764	G	A	201009764	3	1	303	1	0	0	0	0	1	0	0	0	2547	1174	41	2	421	2	CACNA1S	1	201009764	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	15948967	201009764	48240857	7	5283											
DTNB	1838	broad.mit.edu	37	2	25754346	25754346	+	Missense_Mutation	SNP	T	T	C	rs369472992		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:25754346T>C	ENST00000406818.3	-	9	1246	c.997A>G	c.(997-999)Ata>Gta	p.I333V	DTNB_ENST00000496972.2_Missense_Mutation_p.I276V|DTNB_ENST00000404103.3_Missense_Mutation_p.I333V|DTNB_ENST00000405222.1_Missense_Mutation_p.I333V|DTNB_ENST00000407661.3_Missense_Mutation_p.I333V|DTNB_ENST00000407038.3_Missense_Mutation_p.I333V|DTNB_ENST00000545439.1_Missense_Mutation_p.I129V|DTNB_ENST00000407186.1_Missense_Mutation_p.I333V|DTNB_ENST00000288642.8_Missense_Mutation_p.I333V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	333						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTACACTATATGTGCAAGG	0.468																																						uc002rgh.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(997-999)Ata>Gta		Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.		T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	0,3768		0,0,1884	152	148	149		997,997,997,997,997	4.0	1.0	2		149	1,8211		0,1,4105	no	missense,missense,missense,missense,missense	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	29,29,29,29,29	0,1,5989	CC,CT,TT		0.0122,0.0,0.0083	benign,benign,benign,benign,benign	333/628,333/598,333/568,333/610,333/561	25754346	1,11979	1884	4106	5990	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25754346T>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.997A>G	2.37:g.25754346T>C	ENSP00000384084:p.Ile333Val		Somatic				DTNB_uc010yko.2_Missense_Mutation_p.I276V|DTNB_uc002rgi.3_Missense_Mutation_p.I333V|DTNB_uc002rgj.3_Missense_Mutation_p.I333V|DTNB_uc002rgk.3_Missense_Mutation_p.I333V|DTNB_uc002rgl.3_Missense_Mutation_p.I333V|DTNB_uc002rgq.3_Missense_Mutation_p.I333V|DTNB_uc002rgn.3_Missense_Mutation_p.I129V|DTNB_uc010ykp.2_Missense_Mutation_p.I129V|DTNB_uc002rgr.1_Missense_Mutation_p.I322V|DTNB_uc010ykq.1_Missense_Mutation_p.I186V	p.I333V	NM_021907	NP_068707	WXS	Illumina GAIIx	Phase_I	O60941	DTNB_HUMAN			8	1247	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.997A>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301170	0.40694	0.0	1.22E-4	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.48201	2.18;2.2;2.18;2.21;2.18;2.18;2.18;2.17;0.82	5.15	3.97	0.46021	.	0.188712	0.53938	D	0.000041	T	0.42040	0.1185	L	0.55481	1.735	0.34188	D	0.671722	B;B;B;B;B;B;B;B;B;B;B;B	0.19583	0.0;0.002;0.001;0.037;0.003;0.001;0.003;0.002;0.004;0.0;0.005;0.001	B;B;B;B;B;B;B;B;B;B;B;B	0.22880	0.019;0.005;0.012;0.042;0.011;0.005;0.014;0.011;0.018;0.019;0.015;0.005	T	0.49244	-0.8960	10	0.33141	T	0.24	.	10.5591	0.45135	0.0:0.0:0.1617:0.8383	.	333;129;276;333;333;276;333;333;333;333;333;333	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	V	276;333;333;333;333;333;333;333;129;186	ENSP00000444463:I276V;ENSP00000384084:I333V;ENSP00000385482:I333V;ENSP00000385193:I333V;ENSP00000384767:I333V;ENSP00000384787:I333V;ENSP00000385784:I333V;ENSP00000288642:I333V;ENSP00000444961:I129V	ENSP00000288642:I333V	I	-	1	0	DTNB	25607850	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.936000	0.63506	0.755000	0.32990	0.383000	0.25322	ATA		0.468	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		69	57	0	0	0	1	0	69	57					C	25754346	T	C	25754346	3	2	303	1	0	0	0	0	1	0	0	0	4789	1406	49	3	934	3	DTNB	2	25754346	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		25754346	217445027	8	5284											
ZNF512	84450	broad.mit.edu	37	2	27822493	27822493	+	Silent	SNP	G	G	A	rs370685691		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:27822493G>A	ENST00000355467.4	+	4	404	c.321G>A	c.(319-321)caG>caA	p.Q107Q	ZNF512_ENST00000413371.2_Silent_p.Q30Q|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Silent_p.Q106Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.R18K|ZNF512_ENST00000379717.1_Silent_p.Q106Q	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	107					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(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AACCCAGGCAGGAAGAAGATG	0.408																																						uc002rla.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(319-321)caG>caA		Homo sapiens zinc finger protein 512 (ZNF512), mRNA.							128	127	128					2																	27822493		2203	4300	6503	SO:0001819	synonymous_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27822493G>A	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"Zinc fingers, C2H2-type"	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.321G>A	2.37:g.27822493G>A			Somatic				ZNF512_uc010ylw.2_Silent_p.Q106Q|ZNF512_uc002rlb.3_Silent_p.Q28Q|ZNF512_uc010ylx.2_Silent_p.Q28Q|ZNF512_uc002rlc.3_Silent_p.Q28Q|ZNF512_uc010ylv.2_Silent_p.Q28Q|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Silent_p.Q28Q	p.Q107Q	NM_032434	NP_115810	WXS	Illumina GAIIx	Phase_I	Q96ME7	ZN512_HUMAN			3	408	+	Acute lymphoblastic leukemia(172;0.155)		107					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	c.321G>A	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411903	0.62511	.	.	ENSG00000243943	ENST00000556601	.	.	.	5.33	3.51	0.40186	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.19945	N	0.999946	.	.	.	.	.	.	T	0.19712	-1.0297	4	.	.	.	-10.1483	6.1544	0.20330	0.1536:0.1571:0.6894:0.0	.	.	.	.	K	18	.	.	R	+	2	0	ZNF512	27675997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.491000	0.22419	0.801000	0.34066	0.655000	0.94253	AGG		0.408	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		4	49	0	0	0	1	0	4	49					A	27822493	G	A	27822493	2	1	303	1	0	0	0	0	0	0	0	1	17953	991	35	2		2	ZNF512	2	27822493	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	2068147	27822493	215376880	9	5285											
ERLEC1	27248	broad.mit.edu	37	2	54014378	54014378	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014378C>G	ENST00000185150.4	+	1	162	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	GPR75-ASB3_ENST00000263634.3_5'Flank|ERLEC1_ENST00000494373.1_3'UTR|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L11V|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L11V|GPR75-ASB3_ENST00000394717.2_5'Flank|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	11					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CGTACGGAGTCTGGTCCCGGG	0.692																																						uc002rxl.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(31-33)Ctg>Gtg		Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.							35	43	40					2																	54014378		2202	4299	6501	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014378C>G	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.31C>G	2.37:g.54014378C>G	ENSP00000185150:p.Leu11Val		Somatic				GPR75-ASB3_uc021vhl.1_5'Flank|GPR75-ASB3_uc002rxg.2_5'Flank|GPR75-ASB3_uc002rxh.2_5'Flank|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_5'Flank|ERLEC1_uc002rxm.3_Missense_Mutation_p.L11V|ERLEC1_uc002rxn.3_Missense_Mutation_p.L11V	p.L11V	NM_015701	NP_056516	WXS	Illumina GAIIx	Phase_I	Q96DZ1	ERLEC_HUMAN			0	311	+			11					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.31C>G	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014463	0.35511	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.44482	0.92;0.92	4.5	4.5	0.54988	.	0.736301	0.11836	N	0.524782	T	0.37625	0.1010	.	.	.	0.26563	N	0.973701	B;B;B	0.25486	0.079;0.127;0.127	B;B;B	0.29353	0.101;0.047;0.047	T	0.30621	-0.9972	9	0.52906	T	0.07	-0.0492	13.1953	0.59734	0.0:0.791:0.209:0.0	.	11;11;11	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	V	11	ENSP00000385629:L11V;ENSP00000185150:L11V	ENSP00000185150:L11V	L	+	1	2	ERLEC1	53867882	.	.	0.924000	0.36721	0.050000	0.14768	.	.	2.312000	0.78011	0.555000	0.69702	CTG		0.692	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		11	43	0	0	0	1	0	11	43					G	54014378	C	G	54014378	3	3	303	1	0	0	0	0	1	0	0	0	5231	912	32	4	33	4	ERLEC1	2	54014378	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	26191885	54014378	189184995	10	5286			1	11		2	2	33	C		7.442368e-05
ERLEC1	27248	broad.mit.edu	37	2	54014410	54014410	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014410C>T	ENST00000185150.4	+	1	194	c.63C>T	c.(61-63)ctC>ctT	p.L21L	GPR75-ASB3_ENST00000263634.3_5'Flank|ERLEC1_ENST00000494373.1_3'UTR|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|ERLEC1_ENST00000405123.3_Silent_p.L21L|ERLEC1_ENST00000378239.5_Silent_p.L21L|GPR75-ASB3_ENST00000394717.2_5'Flank|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	21					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TACTGGTCCTCTGCGGCCTCC	0.687																																						uc002rxl.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(61-63)ctC>ctT		Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.							42	50	47					2																	54014410		2203	4299	6502	SO:0001819	synonymous_variant	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014410C>T	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.63C>T	2.37:g.54014410C>T			Somatic				GPR75-ASB3_uc021vhl.1_5'Flank|GPR75-ASB3_uc002rxg.2_5'Flank|GPR75-ASB3_uc002rxh.2_5'Flank|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_5'Flank|ERLEC1_uc002rxm.3_Silent_p.L21L|ERLEC1_uc002rxn.3_Silent_p.L21L	p.L21L	NM_015701	NP_056516	WXS	Illumina GAIIx	Phase_I	Q96DZ1	ERLEC_HUMAN			0	343	+			21					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	c.63C>T	CCDS1848.1																																																																																				0.687	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		14	64	0	0	0	1	0	14	64					T	54014410	C	T	54014410	2	4	303	1	0	0	0	0	0	0	0	1	5231	900	32	2		2	ERLEC1	2	54014410	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	32	54014410	189184963	11	5287			1	11		2	2	33	C		7.442368e-05
RIF1	55183	broad.mit.edu	37	2	152320159	152320159	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:152320159G>A	ENST00000243326.5	+	29	4608	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E	RIF1_ENST00000428287.2_Silent_p.E1375E|RIF1_ENST00000430328.2_Silent_p.E1375E|RIF1_ENST00000444746.2_Silent_p.E1375E|RIF1_ENST00000453091.2_Silent_p.E1375E			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTGTAGAGGAGAAAAATGTAG	0.353																																						uc002txm.3																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4123-4125)gaG>gaA		Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.							71	77	75					2																	152320159		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320159G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4125G>A	2.37:g.152320159G>A			Somatic				RIF1_uc002txn.3_Silent_p.E1375E|RIF1_uc002txl.3_Silent_p.E1375E|RIF1_uc002txo.3_Silent_p.E1375E|RIF1_uc002txp.3_Non-coding_Transcript	p.E1375E	NM_018151	NP_060621	WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4286	+			1375					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.4125G>A	CCDS2194.1																																																																																				0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			18	54	0	0	0	1	0	18	54					A	152320159	G	A	152320159	2	1	303	1	0	0	0	0	0	0	0	1	13359	933	33	2		2	RIF1	2	152320159	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	98305749	152320159	90879214	12	5288											
FAP	2191	broad.mit.edu	37	2	163039925	163039925	+	Splice_Site	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:163039925C>G	ENST00000188790.4	-	21	2075	c.1868G>C	c.(1867-1869)tGg>tCg	p.W623S	FAP_ENST00000443424.1_Splice_Site_p.W598S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACAACTCACCCAGCCCCATAT	0.303																																						uc002ucd.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e21+1		Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.							87	95	93					2																	163039925		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163039925C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1869+1G>C	2.37:g.163039925C>G			Somatic				FAP_uc010fpc.3_Splice_Site_p.W172_splice|FAP_uc010zct.2_Splice_Site_p.W598_splice	p.W623_splice	NM_004460	NP_004451	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			21	2077	-			623						Splice_Site	SNP	ENST00000188790.4	37	c.1869_splice	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823754	0.71143	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.42131	0.98;0.98	5.59	5.59	0.84812	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.84190	0.0444	10	0.72032	D	0.01	-23.6485	19.9507	0.97198	0.0:1.0:0.0:0.0	.	598;102;623	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	S	623;598	ENSP00000188790:W623S;ENSP00000411391:W598S	ENSP00000188790:W623S	W	-	2	0	FAP	162748171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.309000	0.78937	2.763000	0.94921	0.655000	0.94253	TGG		0.303	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Missense_Mutation	3	108	0	0	0	1	0	3	108					G	163039925	C	G	163039925	5	3	303	1	0	0	0	0	0	0	1	0	5673	608	21	4	438	4	FAP	2	163039925	Splice_Site	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	10719766	163039925	80159448	13	5289											
PPIG	9360	broad.mit.edu	37	2	170493789	170493789	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:170493789C>T	ENST00000260970.3	+	14	2241	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	PPIG_ENST00000448752.2_Missense_Mutation_p.S674L|PPIG_ENST00000409714.3_Missense_Mutation_p.S659L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	674					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CATAATAGCTCAAATAACAGC	0.348																																						uc002uez.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2020-2022)tCa>tTa		Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	L-Proline(DB00172)						69	73	72					2																	170493789		2203	4300	6503	SO:0001583	missense	9360				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493789C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2021C>T	2.37:g.170493789C>T	ENSP00000260970:p.Ser674Leu		Somatic				PPIG_uc010fpx.3_Missense_Mutation_p.S659L|PPIG_uc010fpy.3_Missense_Mutation_p.S667L|PPIG_uc002ufb.3_Missense_Mutation_p.S674L|PPIG_uc002ufd.3_Missense_Mutation_p.S671L	p.S674L	NM_004792	NP_004783	WXS	Illumina GAIIx	Phase_I	Q13427	PPIG_HUMAN			13	2241	+			674					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2021C>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917384	0.52546	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16597	2.33;2.33;2.33	5.76	4.84	0.62591	.	0.648698	0.15601	N	0.253911	T	0.12178	0.0296	N	0.08118	0	0.33066	D	0.534732	B;B;B	0.19817	0.039;0.039;0.039	B;B;B	0.17433	0.018;0.018;0.018	T	0.13415	-1.0510	10	0.72032	D	0.01	-0.1778	18.4394	0.90660	0.0:0.8724:0.1276:0.0	.	659;659;674	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	L	674;659;674	ENSP00000260970:S674L;ENSP00000386245:S659L;ENSP00000407083:S674L	ENSP00000260970:S674L	S	+	2	0	PPIG	170202035	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	3.781000	0.55394	2.724000	0.93272	0.491000	0.48974	TCA		0.348	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			16	51	0	0	0	1	0	16	51					T	170493789	C	T	170493789	3	4	303	1	0	0	0	0	1	0	0	0	12324	838	29	2	2067	2	PPIG	2	170493789	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	7453864	170493789	72705584	14	5290											
ATG9A	79065	broad.mit.edu	37	2	220089873	220089873	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:220089873G>A	ENST00000409618.1	-	7	875	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ATG9A_ENST00000409422.1_Missense_Mutation_p.R85W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R146W|ATG9A_ENST00000396761.2_Missense_Mutation_p.R146W|ATG9A_ENST00000488833.1_5'Flank|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	146					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)		TTGATAAGCCGGTGGATCCAG	0.522																																						uc002vke.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(436-438)Cgg>Tgg		Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.							120	122	121					2																	220089873		1925	4155	6080	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane		g.chr2:220089873G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.436C>T	2.37:g.220089873G>A	ENSP00000386710:p.Arg146Trp		Somatic				ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.R146W	p.R146W	NM_001077198	NP_076990	WXS	Illumina GAIIx	Phase_I	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	622	-		Renal(207;0.0474)	146					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.436C>T	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932657	0.73442	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715;ENST00000436856;ENST00000457841;ENST00000428226	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.54589	-0.8271	10	0.87932	D	0	.	15.0243	0.71656	0.0:0.0:0.8576:0.1424	.	146	Q7Z3C6	ATG9A_HUMAN	W	146;146;146;85;50;146;146;146	ENSP00000379983:R146W;ENSP00000386710:R146W;ENSP00000355173:R146W;ENSP00000386535:R85W;ENSP00000401530:R146W;ENSP00000404750:R146W;ENSP00000409164:R146W	ENSP00000355173:R146W	R	-	1	2	ATG9A	219798117	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.781000	0.85668	2.608000	0.88229	0.655000	0.94253	CGG		0.522	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		4	93	0	0	0	1	0	4	93					A	220089873	G	A	220089873	3	1	303	1	0	0	0	0	1	0	0	0	1102	1115	39	1	2123	1	ATG9A	2	220089873	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	49596084	220089873	23109500	15	5291											
NGEF	25791	broad.mit.edu	37	2	233757743	233757743	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:233757743T>C	ENST00000264051.3	-	7	1285	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	NGEF_ENST00000373552.4_Missense_Mutation_p.E244G|NGEF_ENST00000539537.1_Missense_Mutation_p.E59G	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCCGGTGCTCCAGCTCCAG	0.592																																						uc002vts.2																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1006-1008)gAg>gGg		Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.							119	96	104					2																	233757743		2203	4299	6502	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233757743T>C	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1007A>G	2.37:g.233757743T>C	ENSP00000264051:p.Glu336Gly		Somatic				NGEF_uc010zmm.1_Missense_Mutation_p.E59G|NGEF_uc010fyg.1_Missense_Mutation_p.E244G	p.E336G	NM_019850	NP_062824	WXS	Illumina GAIIx	Phase_I	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	6	1255	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	336			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1007A>G	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816169	0.90790	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.14	5.14	0.70334	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.83275	0.996;0.757	D	0.87613	0.2505	10	0.87932	D	0	-32.7023	14.9605	0.71153	0.0:0.0:0.0:1.0	.	244;336	E9PC42;Q8N5V2	.;NGEF_HUMAN	G	336;244;226;59;59;59	ENSP00000264051:E336G;ENSP00000362653:E244G;ENSP00000439035:E59G;ENSP00000401063:E59G;ENSP00000412614:E59G	ENSP00000264051:E336G	E	-	2	0	NGEF	233465987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.625000	0.83145	1.941000	0.56285	0.533000	0.62120	GAG		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		3	63	0	0	0	1	0	3	63					C	233757743	T	C	233757743	3	2	303	1	0	0	0	0	1	0	0	0	10394	1551	54	3	1161	3	NGEF	2	233757743	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	13667870	233757743	9441630	16	5292											
NCKIPSD	51517	broad.mit.edu	37	3	48716069	48716069	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:48716069G>C	ENST00000294129.2	-	12	2012	c.1893C>G	c.(1891-1893)ttC>ttG	p.F631L	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F631L|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F624L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	631					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTGTGGTAGAAGATGGCAG	0.582																																						uc003cun.3																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1891-1893)ttC>ttG		Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.							130	121	124					3																	48716069		2203	4300	6503	SO:0001583	missense	51517				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding	g.chr3:48716069G>C	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1893C>G	3.37:g.48716069G>C	ENSP00000294129:p.Phe631Leu		Somatic				NCKIPSD_uc003cum.3_Missense_Mutation_p.F624L	p.F631L	NM_016453	NP_057537	WXS	Illumina GAIIx	Phase_I	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	11	1987	-			631					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1893C>G	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182445	0.78677	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.37	4.3	0.51218	Domain of unknown function DUF2013 (1);	0.000000	0.85682	U	0.000000	T	0.72882	0.3516	M	0.86097	2.795	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	T	0.76769	-0.2837	10	0.72032	D	0.01	.	11.4808	0.50324	0.1557:0.0:0.8443:0.0	.	631;624	Q9NZQ3;Q9NZQ3-3	SPN90_HUMAN;.	L	631;624;631;87	ENSP00000342621:F631L;ENSP00000389059:F624L;ENSP00000294129:F631L;ENSP00000396683:F87L	ENSP00000294129:F631L	F	-	3	2	NCKIPSD	48691073	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.401000	0.73256	2.499000	0.84300	0.563000	0.77884	TTC		0.582	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		12	58	0	0	0	1	0	12	58					C	48716069	G	C	48716069	3	2	303	1	0	0	0	0	1	0	0	0	10225	933	33	4	283	4	NCKIPSD	3	48716069	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		48716069	149306361	17	5293											
NISCH	11188	broad.mit.edu	37	3	52526232	52526232	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526232G>A	ENST00000479054.1	+	22	4321	c.4249G>A	c.(4249-4251)Gac>Aac	p.D1417N	NISCH_ENST00000345716.4_Missense_Mutation_p.D1417N			Q9Y2I1	NISCH_HUMAN	nischarin	1417					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCGGGACCTGGACCGAGTGCT	0.637																																						uc003ded.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4249-4251)Gac>Aac		Homo sapiens nischarin (NISCH), mRNA.							88	88	88					3																	52526232		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526232G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4249G>A	3.37:g.52526232G>A	ENSP00000418232:p.Asp1417Asn		Somatic				NISCH_uc003dee.4_Missense_Mutation_p.D906N|NISCH_uc003deg.1_Intron	p.D1417N	NM_007184	NP_009115	WXS	Illumina GAIIx	Phase_I	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	20	4383	+			1417					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4249G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982343	0.93044	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.12255	2.7;2.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.32530	0.975	0.48087	D	0.999583	D	0.67145	0.996	P	0.60609	0.877	T	0.00958	-1.1500	10	0.66056	D	0.02	-41.8002	19.116	0.93340	0.0:0.0:1.0:0.0	.	1417	Q9Y2I1	NISCH_HUMAN	N	1417;1417;341;761	ENSP00000418232:D1417N;ENSP00000339958:D1417N	ENSP00000339958:D1417N	D	+	1	0	NISCH	52501272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.090000	0.94144	2.535000	0.85469	0.561000	0.74099	GAC		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		27	112	0	0	0	1	0	27	112					A	52526232	G	A	52526232	3	1	303	1	0	0	0	0	1	0	0	0	10432	1174	41	2	4331	2	NISCH	3	52526232	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3810163	52526232	145496198	18	5294											
NISCH	11188	broad.mit.edu	37	3	52526412	52526412	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526412G>A	ENST00000479054.1	+	22	4501	c.4429G>A	c.(4429-4431)Gag>Aag	p.E1477K	STAB1_ENST00000321725.6_5'Flank|NISCH_ENST00000345716.4_Missense_Mutation_p.E1477K			Q9Y2I1	NISCH_HUMAN	nischarin	1477					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCCAGTGCTGAGAGCAGAGA	0.662																																						uc003ded.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4429-4431)Gag>Aag		Homo sapiens nischarin (NISCH), mRNA.							70	79	76					3																	52526412		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526412G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4429G>A	3.37:g.52526412G>A	ENSP00000418232:p.Glu1477Lys		Somatic				NISCH_uc003dee.4_Missense_Mutation_p.E966K|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	p.E1477K	NM_007184	NP_009115	WXS	Illumina GAIIx	Phase_I	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	20	4563	+			1477					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4429G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715027	0.89112	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.10005	2.92;2.92	5.37	5.37	0.77165	.	0.193305	0.44285	D	0.000471	T	0.13372	0.0324	N	0.24115	0.695	0.37148	D	0.902043	D	0.57257	0.979	P	0.47528	0.549	T	0.04017	-1.0984	10	0.72032	D	0.01	-26.6194	19.116	0.93340	0.0:0.0:1.0:0.0	.	1477	Q9Y2I1	NISCH_HUMAN	K	1477;1477;401;791	ENSP00000418232:E1477K;ENSP00000339958:E1477K	ENSP00000339958:E1477K	E	+	1	0	NISCH	52501452	1.000000	0.71417	0.966000	0.40874	0.947000	0.59692	7.073000	0.76784	2.535000	0.85469	0.561000	0.74099	GAG		0.662	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		39	105	0	0	0	1	0	39	105					A	52526412	G	A	52526412	3	1	303	1	0	0	0	0	1	0	0	0	10432	1291	45	2	4511	2	NISCH	3	52526412	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	180	52526412	145496018	19	5295	4	2									
NISCH	11188	broad.mit.edu	37	3	52526419	52526419	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526419G>A	ENST00000479054.1	+	22	4508	c.4436G>A	c.(4435-4437)aGa>aAa	p.R1479K	STAB1_ENST00000321725.6_5'Flank|NISCH_ENST00000345716.4_Missense_Mutation_p.R1479K			Q9Y2I1	NISCH_HUMAN	nischarin	1479					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTGAGAGCAGAGAGAAGCTC	0.657																																						uc003ded.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4435-4437)aGa>aAa		Homo sapiens nischarin (NISCH), mRNA.							63	71	69					3																	52526419		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526419G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4436G>A	3.37:g.52526419G>A	ENSP00000418232:p.Arg1479Lys		Somatic				NISCH_uc003dee.4_Missense_Mutation_p.R968K|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	p.R1479K	NM_007184	NP_009115	WXS	Illumina GAIIx	Phase_I	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	20	4570	+			1479					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4436G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078507	0.94000	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.12147	2.71;2.71	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.23133	0.0559	L	0.32530	0.975	0.42502	D	0.992938	D	0.62365	0.991	P	0.54499	0.754	T	0.00804	-1.1559	10	0.87932	D	0	-8.9895	19.116	0.93340	0.0:0.0:1.0:0.0	.	1479	Q9Y2I1	NISCH_HUMAN	K	1479;1479;403;793	ENSP00000418232:R1479K;ENSP00000339958:R1479K	ENSP00000339958:R1479K	R	+	2	0	NISCH	52501459	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.883000	0.92426	2.535000	0.85469	0.561000	0.74099	AGA		0.657	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		32	92	0	0	0	1	0	32	92					A	52526419	G	A	52526419	3	1	303	1	0	0	0	0	1	0	0	0	10432	942	33	2	4518	2	NISCH	3	52526419	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	7	52526419	145496011	20	5296	4	2									
SLC33A1	9197	broad.mit.edu	37	3	155571317	155571317	+	Missense_Mutation	SNP	T	T	C	rs375098848		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:155571317T>C	ENST00000392845.3	-	1	850	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y157C|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	157					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTGGATAAATAGATCATGAA	0.488																																						uc003fan.4																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(469-471)tAt>tGt		Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.		T	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	60	63	62		470,470	4.2	0.0	3		62	0,8600		0,0,4300	no	missense,missense	SLC33A1	NM_001190992.1,NM_004733.3	194,194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	157/550,157/550	155571317	1,13005	2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571317T>C	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.470A>G	3.37:g.155571317T>C	ENSP00000376587:p.Tyr157Cys		Somatic				SLC33A1_uc003fao.2_Missense_Mutation_p.Y157C	p.Y157C	NM_001190992	NP_004724	WXS	Illumina GAIIx	Phase_I	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		0	932	-			157					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.470A>G	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726533	0.30593	2.27E-4	0.0	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80566	-1.39;-1.39	5.42	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);	0.112487	0.64402	D	0.000006	T	0.72003	0.3407	L	0.37800	1.135	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.66356	-0.5944	10	0.45353	T	0.12	-6.4082	11.8536	0.52425	0.1312:0.0:0.0:0.8688	.	157	O00400	ACATN_HUMAN	C	157	ENSP00000376587:Y157C;ENSP00000352456:Y157C	ENSP00000352456:Y157C	Y	-	2	0	SLC33A1	157054011	0.289000	0.24334	0.011000	0.14972	0.671000	0.39405	1.251000	0.32862	0.967000	0.38186	0.529000	0.55759	TAT		0.488	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		3	59	0	0	0	1	0	3	59					C	155571317	T	C	155571317	3	2	303	1	0	0	0	0	1	0	0	0	14566	1406	49	3	1203	3	SLC33A1	3	155571317	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	103044898	155571317	42451113	21	5297											
RBPJ	3516	broad.mit.edu	37	4	26432321	26432321	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr4:26432321G>A	ENST00000361572.6	+	11	1389	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	RBPJ_ENST00000342320.4_Missense_Mutation_p.E385K|RBPJ_ENST00000507561.1_Missense_Mutation_p.E364K|RBPJ_ENST00000342295.1_Missense_Mutation_p.E399K|RBPJ_ENST00000345843.3_Missense_Mutation_p.E384K|RBPJ_ENST00000504907.1_Missense_Mutation_p.R350K|RBPJ_ENST00000348160.4_Missense_Mutation_p.E386K|RBPJ_ENST00000355476.3_Missense_Mutation_p.E385K			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	399	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAGGTGTGGAGAGAGTATGCT	0.408																																						uc003grx.2																			0		p.R398G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(1195-1197)Gag>Aag		Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.							69	69	69					4																	26432321		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432321G>A	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1195G>A	4.37:g.26432321G>A	ENSP00000354528:p.Glu399Lys		Somatic				RBPJ_uc003gry.2_Missense_Mutation_p.E384K|RBPJ_uc003grz.2_Missense_Mutation_p.E399K|RBPJ_uc003gsa.2_Missense_Mutation_p.E385K|RBPJ_uc003gsb.2_Missense_Mutation_p.E386K	p.E399K	NM_005349	NP_005340	WXS	Illumina GAIIx	Phase_I	Q06330	SUH_HUMAN			11	1431	+		Breast(46;0.0503)	399			IPT/TIG.		B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1195G>A	CCDS3437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.022329|5.022329	0.93462|0.93462	.|.	.|.	ENSG00000168214|ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423|ENST00000504907	T;T;T;T;T;T;T;T|T	0.76316|0.58797	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01|0.31	5.51|5.51	5.51|5.51	0.81932|0.81932	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.83692|0.83692	2.655|2.655	0.80722|0.80722	D|D	1|1	D;D;D;D|B	0.71674|0.14438	0.998;0.997;0.997;0.998|0.01	D;D;D;D|B	0.73380|0.13407	0.98;0.966;0.966;0.98|0.009	T|T	0.61217|0.61217	-0.7107|-0.7107	10|8	0.62326|.	D|.	0.03|.	-19.5648|-19.5648	19.3944|19.3944	0.94601|0.94601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	386;385;384;399|350	B4DY22;Q06330-6;Q06330-4;Q06330|D6R927	.;.;.;SUH_HUMAN|.	K|K	384;399;399;386;385;364;385;85|350	ENSP00000305815:E384K;ENSP00000345206:E399K;ENSP00000354528:E399K;ENSP00000339699:E386K;ENSP00000347659:E385K;ENSP00000423907:E364K;ENSP00000340124:E385K;ENSP00000421804:E85K|ENSP00000423703:R350K	ENSP00000345206:E399K|.	E|R	+|+	1|2	0|0	RBPJ|RBPJ	26041419|26041419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	9.132000|9.132000	0.94455|0.94455	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.408	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		5	56	0	0	0	1	0	5	56					A	26432321	G	A	26432321	3	1	303	1	0	0	0	0	1	0	0	0	13161	943	33	2	1300	2	RBPJ	4	26432321	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		26432321	164721955	22	5298											
GIN1	54826	broad.mit.edu	37	5	102444350	102444350	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr5:102444350G>C	ENST00000399004.2	-	2	156	c.62C>G	c.(61-63)aCt>aGt	p.T21S	GIN1_ENST00000508629.1_Missense_Mutation_p.T21S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	21					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ATATTCACCAGTTCGTTTGTA	0.328																																						uc003koa.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(61-63)aCt>aGt		Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.							143	133	136					5																	102444350		1847	4094	5941	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102444350G>C	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.62C>G	5.37:g.102444350G>C	ENSP00000381970:p.Thr21Ser		Somatic				GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Missense_Mutation_p.T21S	p.T21S	NM_017676	NP_060146	WXS	Illumina GAIIx	Phase_I	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	1	144	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	21					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.62C>G	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066931	0.36470	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.22743	2.15;1.94	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000012	T	0.14270	0.0345	N	0.08118	0	0.31698	N	0.640996	P;P	0.46220	0.874;0.825	B;B	0.44163	0.443;0.393	T	0.05419	-1.0886	10	0.39692	T	0.17	-10.4056	14.1605	0.65443	0.0689:0.0:0.9311:0.0	.	21;21	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	S	21	ENSP00000381970:T21S;ENSP00000427162:T21S	ENSP00000381970:T21S	T	-	2	0	GIN1	102472249	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.414000	0.59802	1.627000	0.50400	0.650000	0.86243	ACT		0.328	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		3	46	0	0	0	1	0	3	46					C	102444350	G	C	102444350	3	2	303	1	0	0	0	0	1	0	0	0	6386	1029	36	4	1534	4	GIN1	5	102444350	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		102444350	78470910	23	5299											
PKHD1	5314	broad.mit.edu	37	6	51613023	51613023	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:51613023G>A	ENST00000371117.3	-	58	9666	c.9391C>T	c.(9391-9393)Cat>Tat	p.H3131Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.H3131Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3131					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTATAGAGATGAAGGCCATGA	0.458																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9391-9393)Cat>Tat		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							217	221	220					6																	51613023		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613023G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9391C>T	6.37:g.51613023G>A	ENSP00000360158:p.His3131Tyr		Somatic				PKHD1_uc010jzn.1_Missense_Mutation_p.H1114Y|PKHD1_uc003pai.3_Missense_Mutation_p.H3131Y	p.H3131Y	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			57	9667	-	Lung NSC(77;0.0605)		3131					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9391C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239641	0.39598	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77877	-1.13;-1.13	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	L	0.40543	1.245	0.40646	D	0.981992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.70360	-0.4893	10	0.02654	T	1	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	3131;3131;3131	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Y	3131	ENSP00000360158:H3131Y;ENSP00000341097:H3131Y	ENSP00000341097:H3131Y	H	-	1	0	PKHD1	51720982	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	6.432000	0.73400	2.776000	0.95493	0.655000	0.94253	CAT		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		5	292	0	0	0	1	0	5	292					A	51613023	G	A	51613023	3	1	303	1	0	0	0	0	1	0	0	0	11971	1290	45	2	2912	2	PKHD1	6	51613023	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		51613023	119502044	24	5300											
USP45	85015	broad.mit.edu	37	6	99924037	99924037	+	Silent	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:99924037C>G	ENST00000327681.6	-	9	1447	c.915G>C	c.(913-915)gtG>gtC	p.V305V	USP45_ENST00000500704.2_Silent_p.V305V|USP45_ENST00000392738.2_Silent_p.V43V|USP45_ENST00000369233.2_Silent_p.V305V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	305	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTCTGTCCTCACTGCATCCA	0.408																																						uc003ppx.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(913-915)gtG>gtC		Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.							80	79	80					6																	99924037		2203	4300	6503	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99924037C>G	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"Ubiquitin-specific peptidases"	20080	protein-coding gene	gene with protein product			"ubiquitin specific protease 45"			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.915G>C	6.37:g.99924037C>G			Somatic				USP45_uc003ppw.2_Silent_p.V43V|USP45_uc010kcq.2_Silent_p.V305V	p.V305V	NM_001080481	NP_001073950	WXS	Illumina GAIIx	Phase_I	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	8	1448	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	305					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.915G>C	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.799108	0.16397	.	.	ENSG00000123552	ENST00000496090	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7281	0.85428	0.0:0.871:0.129:0.0	.	.	.	.	S	16	.	.	X	-	2	2	USP45	100030758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.846000	0.27682	2.663000	0.90544	0.585000	0.79938	TGA		0.408	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		8	45	0	0	0	1	0	8	45					G	99924037	C	G	99924037	2	3	303	1	0	0	0	0	0	0	0	1	17073	813	29	4		4	USP45	6	99924037	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	48311014	99924037	71191030	25	5301											
SESN1	27244	broad.mit.edu	37	6	109322623	109322623	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:109322623G>A	ENST00000356644.7	-	3	331	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Silent_p.G138G|SESN1_ENST00000302071.2_Silent_p.G13G	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	79					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TATCCAAACGGCCCAAAGCAG	0.403																																						uc003psu.3																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(412-414)ggC>ggT		Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.							93	85	88					6																	109322623		2203	4300	6503	SO:0001819	synonymous_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109322623G>A	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.237C>T	6.37:g.109322623G>A			Somatic				SESN1_uc021zdp.1_Silent_p.G13G|SESN1_uc003pst.4_Silent_p.G79G	p.G138G	NM_014454	NP_001186863	WXS	Illumina GAIIx	Phase_I	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	2	846	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	79					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Silent	SNP	ENST00000356644.7	37	c.414C>T	CCDS56445.1																																																																																				0.403	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		3	33	0	0	0	1	0	3	33					A	109322623	G	A	109322623	2	1	303	1	0	0	0	0	0	0	0	1	14124	1190	42	2		2	SESN1	6	109322623	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	9398586	109322623	61792444	26	5302											
IFNGR1	3459	broad.mit.edu	37	6	137519644	137519644	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:137519644G>T	ENST00000367739.4	-	7	1115	c.994C>A	c.(994-996)Cca>Aca	p.P332T	IFNGR1_ENST00000543628.1_Missense_Mutation_p.P304T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	332					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCATGCCTGGAACTGTTGCT	0.413																																						uc003qho.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(994-996)Cca>Aca		Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	Interferon gamma-1b(DB00033)						96	89	91					6																	137519644		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519644G>T		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.994C>A	6.37:g.137519644G>T	ENSP00000356713:p.Pro332Thr		Somatic				IFNGR1_uc011edm.1_Missense_Mutation_p.P304T	p.P332T	NM_000416	NP_000407	WXS	Illumina GAIIx	Phase_I	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	6	1097	-	Colorectal(23;0.24)		332					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.994C>A	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775555	0.31411	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72835	-0.69;-0.52	5.06	-4.15	0.03881	.	6.509710	0.00447	N	0.000089	T	0.33990	0.0882	L	0.34521	1.04	0.09310	N	1	P;P	0.45176	0.822;0.852	B;B	0.39217	0.194;0.294	T	0.33574	-0.9863	10	0.29301	T	0.29	0.5931	5.8866	0.18884	0.4116:0.3941:0.1944:0.0	.	304;332	F5H5M7;P15260	.;INGR1_HUMAN	T	332;304	ENSP00000356713:P332T;ENSP00000443282:P304T	ENSP00000356713:P332T	P	-	1	0	IFNGR1	137561337	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.920000	0.04013	-0.536000	0.06298	-0.140000	0.14226	CCA		0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			22	32	0	0	0	1	0	22	32					T	137519644	G	T	137519644	3	4	303	1	0	0	0	0	1	0	0	0	7549	1174	41	4	479	4	IFNGR1	6	137519644	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	28197021	137519644	33595423	27	5303											
ABCB5	340273	broad.mit.edu	37	7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:20782555G>A	ENST00000404938.2	+	25	3732	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1027	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATCCATGTCGCCCAGATGTT	0.468																																						uc010kuh.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3079-3081)cGc>cAc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.							142	134	137					7																	20782555		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782555G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3080G>A	7.37:g.20782555G>A	ENSP00000384881:p.Arg1027His		Somatic				ABCB5_uc003suw.4_Missense_Mutation_p.R582H	p.R1027H	NM_001163941	NP_848654	WXS	Illumina GAIIx	Phase_I	Q2M3G0	ABCB5_HUMAN			24	3317	+			582					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.3080G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627434	0.87560	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90788	-2.73;-2.73	4.96	4.06	0.47325	ABC transporter-like (1);	0.000000	0.52532	D	0.000069	D	0.91382	0.7281	L	0.28694	0.88	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91792	0.5444	10	0.87932	D	0	.	12.7195	0.57134	0.0833:0.0:0.9167:0.0	.	1027;582	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	1027;582	ENSP00000384881:R1027H;ENSP00000258738:R582H	ENSP00000258738:R582H	R	+	2	0	ABCB5	20749080	0.997000	0.39634	0.998000	0.56505	0.940000	0.58332	6.253000	0.72453	2.575000	0.86900	0.650000	0.86243	CGC		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		7	49	0	0	0	1	0	7	49					A	20782555	G	A	20782555	3	1	303	1	0	0	0	0	1	0	0	0	44	1087	38	1	3215	1	ABCB5	7	20782555	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		20782555	138356108	28	5304											
SEMA3A	10371	broad.mit.edu	37	7	83764225	83764225	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:83764225G>C	ENST00000265362.4	-	2	469	c.155C>G	c.(154-156)gCc>gGc	p.A52G	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A52G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGAGCTGTTGGCCAAGCCATT	0.393																																						uc003uhz.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(154-156)gCc>gGc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.							114	104	108					7																	83764225		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764225G>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.155C>G	7.37:g.83764225G>C	ENSP00000265362:p.Ala52Gly		Somatic					p.A52G	NM_006080	NP_006071	WXS	Illumina GAIIx	Phase_I	Q14563	SEM3A_HUMAN			1	470	-			52			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.155C>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	g	12.64	1.997405	0.35226	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.22134	1.97;1.97;1.97	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.279904	0.40064	N	0.001200	T	0.11196	0.0273	N	0.11064	0.09	0.52501	D	0.999951	B	0.02656	0.0	B	0.01281	0.0	T	0.17319	-1.0373	10	0.16420	T	0.52	.	12.9115	0.58182	0.0789:0.0:0.9211:0.0	.	52	Q14563	SEM3A_HUMAN	G	52	ENSP00000265362:A52G;ENSP00000415260:A52G;ENSP00000391900:A52G	ENSP00000265362:A52G	A	-	2	0	SEMA3A	83602161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.533000	0.81994	2.434000	0.82447	0.467000	0.42956	GCC		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		22	34	0	0	0	1	0	22	34					C	83764225	G	C	83764225	3	2	303	1	0	0	0	0	1	0	0	0	14024	1203	42	4	2224	4	SEMA3A	7	83764225	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	62981670	83764225	75374438	29	5305											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	28	0	0	0	1	0	25	28					T	140453136	A	T	140453136	3	4	303	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	56688911	140453136	18685527	30	5306											
ZNF786	136051	broad.mit.edu	37	7	148767890	148767890	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:148767890C>T	ENST00000491431.1	-	4	2038	c.1974G>A	c.(1972-1974)gtG>gtA	p.V658V	ZNF786_ENST00000451334.3_Silent_p.V621V|ZNF786_ENST00000316286.9_Silent_p.V572V	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGAGTGTTTCACAAAGCCCT	0.572																																						uc003wfh.2																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1972-1974)gtG>gtA		Homo sapiens zinc finger protein 786 (ZNF786), mRNA.							65	69	68					7																	148767890		2161	4273	6434	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767890C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1974G>A	7.37:g.148767890C>T			Somatic				ZNF786_uc011kuk.1_Silent_p.V621V|ZNF786_uc003wfi.2_Silent_p.V572V	p.V658V	NM_152411	NP_689624	WXS	Illumina GAIIx	Phase_I	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	2111	-	Melanoma(164;0.15)		658					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1974G>A	CCDS47738.1																																																																																				0.572	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		12	88	0	0	0	1	0	12	88					T	148767890	C	T	148767890	2	4	303	1	0	0	0	0	0	0	0	1	18155	813	29	2		2	ZNF786	7	148767890	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	8314754	148767890	10370773	31	5307											
GIMAP5	55340	broad.mit.edu	37	7	150439358	150439358	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:150439358G>T	ENST00000358647.3	+	3	498	c.131G>T	c.(130-132)gGg>gTg	p.G44V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	44	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCACAGGGAACAGCATC	0.527																																						uc022apw.1																			0											c.(742-744)gGg>gTg		Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.							85	73	77					7																	150439358		2203	4300	6503	SO:0001583	missense	100527949							g.chr7:150439358G>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.131G>T	7.37:g.150439358G>T	ENSP00000351473:p.Gly44Val		Somatic				GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G44V	p.G248V	NM_001199577	NP_001186506	WXS	Illumina GAIIx	Phase_I					5	883	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.743G>T	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646474	0.67358	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.30448	1.53	4.35	4.35	0.52113	AIG1 (1);	0.118294	0.56097	D	0.000023	T	0.56819	0.2011	M	0.82630	2.6	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.63211	-0.6688	10	0.87932	D	0	.	12.225	0.54455	0.0:0.0:1.0:0.0	.	44	Q96F15	GIMA5_HUMAN	V	44;80	ENSP00000351473:G44V	ENSP00000351473:G44V	G	+	2	0	GIMAP5	150070291	0.989000	0.36119	0.989000	0.46669	0.985000	0.73830	3.065000	0.49994	2.251000	0.74343	0.655000	0.94253	GGG		0.527	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		9	52	0	0	0	1	0	9	52					T	150439358	G	T	150439358	3	4	303	1	0	0	0	0	1	0	0	0	6382	1232	43	4	137	4	GIMAP5	7	150439358	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	1671468	150439358	8699305	32	5308											
LONRF1	91694	broad.mit.edu	37	8	12594452	12594452	+	Silent	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:12594452C>G	ENST00000398246.3	-	5	1380	c.1311G>C	c.(1309-1311)gtG>gtC	p.V437V	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Silent_p.V80V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	437							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CATTTACAATCACATCCTGTT	0.318																																						uc003wwd.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1309-1311)gtG>gtC		Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.							73	63	66					8																	12594452		1811	4076	5887	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594452C>G	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1311G>C	8.37:g.12594452C>G			Somatic				LONRF1_uc011kxv.1_Silent_p.V37V|LONRF1_uc010lsp.1_Silent_p.V37V	p.V437V	NM_152271	NP_689484	WXS	Illumina GAIIx	Phase_I	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	4	1374	-			437					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.1311G>C	CCDS5987.2																																																																																				0.318	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		12	26	0	0	0	1	0	12	26					G	12594452	C	G	12594452	2	3	303	1	0	0	0	0	0	0	0	1	8894	813	29	4		4	LONRF1	8	12594452	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		12594452	133769570	33	5309											
PNOC	5368	broad.mit.edu	37	8	28196729	28196729	+	Missense_Mutation	SNP	G	G	A	rs533728896	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28196729G>A	ENST00000301908.3	+	3	507	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	PNOC_ENST00000522209.1_Missense_Mutation_p.R36Q|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	100					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R100E(1)|p.R100Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGAATGCCCCGAGTCCGGAGC	0.632													G|||	2	0.000399361	0	0	5008	,	,		15856	0		0	False		,,,				2504	0.002					uc010lva.2																			2	Substitution - Missense(2)	p.R100E(2)|p.R100Q(2)|p.R100G(1)	lung(2)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(298-300)cGa>cAa		Homo sapiens prepronociceptin (PNOC), mRNA.							33	38	36					8																	28196729		2203	4300	6503	SO:0001583	missense	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196729G>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"Endogenous ligands"	9163	protein-coding gene	gene with protein product	"nocistatin"	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.299G>A	8.37:g.28196729G>A	ENSP00000301908:p.Arg100Gln		Somatic				PNOC_uc003xgp.3_Missense_Mutation_p.R100Q|PNOC_uc011lau.1_Missense_Mutation_p.R36Q	p.R100Q	NM_006228	NP_006219	WXS	Illumina GAIIx	Phase_I	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	2	507	+		Ovarian(32;0.000953)	100					B7Z749|Q6FH16	Missense_Mutation	SNP	ENST00000301908.3	37	c.299G>A	CCDS6066.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873429	0.51695	.	.	ENSG00000168081	ENST00000518479;ENST00000301908;ENST00000522209	T;T	0.81415	0.62;-1.49	4.78	4.78	0.61160	.	0.226701	0.41605	D	0.000860	D	0.82972	0.5153	M	0.86097	2.795	0.29323	N	0.867204	P	0.51057	0.941	B	0.43889	0.435	T	0.83332	-0.0012	10	0.66056	D	0.02	-15.8932	13.1952	0.59734	0.0:0.0:1.0:0.0	.	100	Q13519	PNOC_HUMAN	Q	100;100;36	ENSP00000428059:R100Q;ENSP00000301908:R100Q	ENSP00000301908:R100Q	R	+	2	0	PNOC	28252648	0.976000	0.34144	0.945000	0.38365	0.211000	0.24417	2.446000	0.44908	2.474000	0.83562	0.655000	0.94253	CGA		0.632	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		5	40	0	0	0	1	0	5	40					A	28196729	G	A	28196729	3	1	303	1	0	0	0	0	1	0	0	0	12162	1058	37	1	305	1	PNOC	8	28196729	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	15602277	28196729	118167293	34	5310											
INTS9	55756	broad.mit.edu	37	8	28635438	28635438	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28635438G>C	ENST00000521022.1	-	13	1384	c.1303C>G	c.(1303-1305)Cct>Gct	p.P435A	INTS9_ENST00000521777.1_Missense_Mutation_p.P411A|INTS9_ENST00000416984.2_Missense_Mutation_p.P414A|INTS9_ENST00000397363.4_Missense_Mutation_p.P329A|INTS9_ENST00000521070.1_5'UTR	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	435					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGCTGGTAAGGAGCCAGGGCT	0.502																																						uc003xha.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1303-1305)Cct>Gct		Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.							71	68	69					8																	28635438		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28635438G>C	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1303C>G	8.37:g.28635438G>C	ENSP00000429065:p.Pro435Ala		Somatic				INTS9_uc011lav.2_Missense_Mutation_p.P411A|INTS9_uc011law.2_Missense_Mutation_p.P414A|INTS9_uc011lax.2_Missense_Mutation_p.P328A|INTS9_uc010lvc.3_Non-coding_Transcript	p.P435A	NM_018250	NP_001166033	WXS	Illumina GAIIx	Phase_I	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	12	1602	-		Ovarian(32;0.0439)	435					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1303C>G	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736397	0.89482	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.55760	0.53;0.55;0.55;0.5	5.28	5.28	0.74379	.	0.055332	0.85682	D	0.000000	T	0.73118	0.3546	M	0.75615	2.305	0.80722	D	1	D;D	0.67145	0.996;0.996	P;D	0.70716	0.871;0.97	T	0.75605	-0.3260	10	0.59425	D	0.04	-21.4812	18.9064	0.92464	0.0:0.0:1.0:0.0	.	414;435	B7Z6M5;Q9NV88	.;INT9_HUMAN	A	435;414;279;411;329	ENSP00000429065:P435A;ENSP00000398208:P414A;ENSP00000430943:P411A;ENSP00000380520:P329A	ENSP00000380520:P329A	P	-	1	0	INTS9	28691357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.459000	0.83118	0.655000	0.94253	CCT		0.502	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		8	43	0	0	0	1	0	8	43					C	28635438	G	C	28635438	3	2	303	1	0	0	0	0	1	0	0	0	7785	1174	41	4	693	4	INTS9	8	28635438	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	438709	28635438	117728584	35	5311											
CHD7	55636	broad.mit.edu	37	8	61707670	61707670	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:61707670A>G	ENST00000423902.2	+	4	2701	c.2222A>G	c.(2221-2223)gAg>gGg	p.E741G	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E741G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	741					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAAGATGAGGACCCAGGT	0.433																																						uc003xue.3																			1	Insertion - In frame(1)	p.556_871dup(2)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2221-2223)gAg>gGg		Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.							97	98	98					8																	61707670		1837	4082	5919	SO:0001583	missense	55636				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	g.chr8:61707670A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2222A>G	8.37:g.61707670A>G	ENSP00000392028:p.Glu741Gly		Somatic				CHD7_uc022aux.1_Intron	p.E741G	NM_017780	NP_060250	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2714	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	741					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2222A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567685	0.65651	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.82711	-1.64;-1.22	5.73	5.73	0.89815	.	0.154150	0.30419	N	0.009666	T	0.70868	0.3273	N	0.08118	0	0.49483	D	0.999796	B	0.20780	0.048	B	0.20767	0.031	T	0.68957	-0.5272	10	0.72032	D	0.01	-17.5982	16.3123	0.82883	1.0:0.0:0.0:0.0	.	741	Q9P2D1	CHD7_HUMAN	G	741	ENSP00000392028:E741G;ENSP00000436027:E741G	ENSP00000307304:E741G	E	+	2	0	CHD7	61870224	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.486000	0.81215	2.308000	0.77769	0.533000	0.62120	GAG		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	136	0	0	0	1	0	3	136					G	61707670	A	G	61707670	3	3	303	1	0	0	0	0	1	0	0	0	3330	304	11	3	2232	3	CHD7	8	61707670	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	33072232	61707670	84656352	36	5312											
GRINA	2907	broad.mit.edu	37	8	145066705	145066705	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:145066705C>T	ENST00000313269.5	+	6	1173	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	GRINA_ENST00000395068.4_Missense_Mutation_p.L299F	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	299						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCGCCATTCTCTGCATCTT	0.617																																						uc003zan.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(895-897)Ctc>Ttc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.							125	96	106					8																	145066705		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145066705C>T	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.895C>T	8.37:g.145066705C>T	ENSP00000314380:p.Leu299Phe		Somatic				GRINA_uc003zao.1_Missense_Mutation_p.L299F|GRINA_uc003zap.1_Missense_Mutation_p.L299F	p.L299F	NM_001009184	NP_001009184	WXS	Illumina GAIIx	Phase_I	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1061	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		299					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.895C>T	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.641580|2.641580	0.47153|0.47153	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000395068;ENST00000537637|ENST00000533044;ENST00000527194	T;T|.	0.47177|.	0.85;0.85|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.069378|.	0.64402|.	D|.	0.000015|.	T|T	0.54415|0.54415	0.1857|0.1857	L|L	0.28556|0.28556	0.865|0.865	0.53688|0.53688	D|D	0.999976|0.999976	P|.	0.48407|.	0.91|.	P|.	0.49953|.	0.627|.	T|T	0.50242|0.50242	-0.8851|-0.8851	10|5	0.38643|.	T|.	0.18|.	-35.2538|-35.2538	14.429|14.429	0.67236|0.67236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	299|.	Q7Z429|.	GRINA_HUMAN|.	F|F	299;299;280|121;111	ENSP00000314380:L299F;ENSP00000378507:L299F|.	ENSP00000314380:L299F|.	L|S	+|+	1|2	0|0	GRINA|GRINA	145138693|145138693	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.958000|0.958000	0.62258|0.62258	5.568000|5.568000	0.67385|0.67385	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.617	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		13	24	0	0	0	1	0	13	24					T	145066705	C	T	145066705	3	4	303	1	0	0	0	0	1	0	0	0	6785	913	32	2	913	2	GRINA	8	145066705	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	83359035	145066705	1297317	37	5313											
ZNF250	58500	broad.mit.edu	37	8	146107607	146107607	+	Missense_Mutation	SNP	G	G	T	rs2953878		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:146107607G>T	ENST00000292579.7	-	6	1092	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L321M	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	326					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)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGCTCCGCAGAACAGTGCTA	0.542																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.4																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(976-978)Ctg>Atg		Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.							67	53	58					8																	146107607		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107607G>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"Zinc fingers, C2H2-type", "-"	13044	protein-coding gene	gene with protein product			"zinc finger protein 647"	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.976C>A	8.37:g.146107607G>T	ENSP00000292579:p.Leu326Met		Somatic				COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.L321M|ZNF250_uc010mgg.3_Missense_Mutation_p.L321M	p.L326M	NM_021061	NP_066405	WXS	Illumina GAIIx	Phase_I	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	5	1093	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		326					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.976C>A	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881202	0.51801	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.53640	0.61;0.61	3.94	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38005	N	0.001852	T	0.62368	0.2422	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62369	-0.6869	10	0.87932	D	0	-24.5351	8.0005	0.30293	0.2087:0.0:0.7913:0.0	.	321;326	D3DWP1;P15622	.;ZN250_HUMAN	M	326;321;321	ENSP00000292579:L326M;ENSP00000393442:L321M	ENSP00000292579:L326M	L	-	1	2	ZNF250	146078411	0.507000	0.26146	0.686000	0.30086	0.945000	0.59286	0.809000	0.27168	0.632000	0.30432	0.313000	0.20887	CTG		0.542	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		10	14	0	0	0	1	0	10	14					T	146107607	G	T	146107607	3	4	303	1	0	0	0	0	1	0	0	0	17792	933	33	4	710	4	ZNF250	8	146107607	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	1040902	146107607	256415	38	5314											
EXOSC3	51010	broad.mit.edu	37	9	37783998	37783998	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:37783998G>C	ENST00000327304.5	-	2	399	c.387C>G	c.(385-387)ttC>ttG	p.F129L	EXOSC3_ENST00000396521.3_Missense_Mutation_p.F129L|EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	129					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CATCAACTTTGAATATATCTC	0.383																																						uc004aal.2																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(385-387)ttC>ttG		Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.							121	114	116					9																	37783998		2203	4300	6503	SO:0001583	missense	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding	g.chr9:37783998G>C	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"exosome component Rrp40", "CGI-102 protein"	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.387C>G	9.37:g.37783998G>C	ENSP00000323046:p.Phe129Leu		Somatic				EXOSC3_uc010mly.1_Missense_Mutation_p.F129L|EXOSC3_uc004aam.2_Missense_Mutation_p.F129L	p.F129L	NM_016042	NP_057126	WXS	Illumina GAIIx	Phase_I	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	1	413	-			129					A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	37	c.387C>G	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764108	0.69878	.	.	ENSG00000107371	ENST00000327304;ENST00000396521	D;D	0.81996	-1.56;-1.56	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.85111	0.5622	M	0.83603	2.65	0.80722	D	1	P;P	0.47191	0.717;0.891	B;P	0.45610	0.352;0.487	D	0.86656	0.1901	10	0.62326	D	0.03	-6.7177	10.3613	0.43996	0.0895:0.0:0.9105:0.0	.	129;129	A8K0K6;Q9NQT5	.;EXOS3_HUMAN	L	129	ENSP00000323046:F129L;ENSP00000379775:F129L	ENSP00000323046:F129L	F	-	3	2	EXOSC3	37773998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.983000	0.40648	2.637000	0.89404	0.563000	0.77884	TTC		0.383	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		15	76	0	0	0	1	0	15	76					C	37783998	G	C	37783998	3	2	303	1	0	0	0	0	1	0	0	0	5316	1281	45	4	452	4	EXOSC3	9	37783998	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		37783998	103429433	39	5315											
WDR34	89891	broad.mit.edu	37	9	131397416	131397416	+	Silent	SNP	G	G	A	rs570806137		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:131397416G>A	ENST00000372715.2	-	6	996	c.936C>T	c.(934-936)ttC>ttT	p.F312F	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	312						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TGACCAGGGCGAAGCCCTCTG	0.672											OREG0019522	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	,	,		17459	0		0	False		,,,				2504	0.001					uc004bvq.1																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(934-936)ttC>ttT		Homo sapiens WD repeat domain 34 (WDR34), mRNA.							44	43	44					9																	131397416		2203	4300	6503	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131397416G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.936C>T	9.37:g.131397416G>A			Somatic	OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587		p.F312F	NM_052844	NP_443076	WXS	Illumina GAIIx	Phase_I	Q96EX3	WDR34_HUMAN			5	1060	-			312					Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.936C>T	CCDS6906.2																																																																																				0.672	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		13	47	0	0	0	1	0	13	47					A	131397416	G	A	131397416	2	1	303	1	0	0	0	0	0	0	0	1	17285	1049	37	1		1	WDR34	9	131397416	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	93613418	131397416	9816015	40	5316											
ACBD5	91452	broad.mit.edu	37	10	27520723	27520723	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:27520723A>G	ENST00000375888.1	-	3	387	c.323T>C	c.(322-324)aTg>aCg	p.M108T	RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000375901.1_Start_Codon_SNP_p.M1T|ACBD5_ENST00000375905.4_Missense_Mutation_p.M75T|ACBD5_ENST00000396271.3_Missense_Mutation_p.M110T|ACBD5_ENST00000375897.3_Start_Codon_SNP_p.M1T|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	108	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTCTTTGGTCATATCACCCAG	0.328																																						uc010qdp.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(328-330)aTg>aCg		Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 1, mRNA.							159	146	150					10																	27520723		2203	4299	6502	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27520723A>G	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.323T>C	10.37:g.27520723A>G	ENSP00000365049:p.Met108Thr		Somatic				ACBD5_uc010qdm.2_Missense_Mutation_p.M108T|ACBD5_uc010qdn.2_Missense_Mutation_p.M1T|ACBD5_uc010qdo.2_Missense_Mutation_p.M1T|ACBD5_uc001ito.3_Missense_Mutation_p.M75T|ACBD5_uc001itp.3_Missense_Mutation_p.M1T|ACBD5_uc001itq.3_Missense_Mutation_p.M1T|ACBD5_uc001itr.1_5'UTR	p.M110T	NM_145698	NP_001035938	WXS	Illumina GAIIx	Phase_I	Q5T8D3	ACBD5_HUMAN			3	520	-			108			ACB.		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.329T>C		.	.	.	.	.	.	.	.	.	.	A	16.93	3.258127	0.59321	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T;T;T	0.58797	1.87;1.87;0.31;0.45;1.87;1.87;1.87	5.66	5.66	0.87406	.	0.077304	0.85682	D	0.000000	T	0.72906	0.3519	L	0.58354	1.805	0.36832	D	0.88694	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.991;0.99;0.989	T	0.79035	-0.1968	10	0.66056	D	0.02	-15.1415	15.898	0.79350	1.0:0.0:0.0:0.0	.	110;1;108	Q5T8D3-3;B7Z2A7;B7Z2R7	.;.;.	T	105;110;75;1;1;108;117;75	ENSP00000379568:M110T;ENSP00000365070:M75T;ENSP00000365066:M1T;ENSP00000365062:M1T;ENSP00000365049:M108T;ENSP00000401591:M117T;ENSP00000393398:M75T	ENSP00000365049:M108T	M	-	2	0	ACBD5	27560729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.984000	0.93482	2.150000	0.67090	0.528000	0.53228	ATG		0.328	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		5	69	0	0	0	1	0	5	69					G	27520723	A	G	27520723	3	3	303	1	0	0	0	0	1	0	0	0	125	217	8	3	1288	3	ACBD5	10	27520723	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08		27520723	108014024	41	5317											
TMEM26	219623	broad.mit.edu	37	10	63188763	63188763	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:63188763G>C	ENST00000399298.3	-	4	894	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E	TMEM26_ENST00000399293.1_Missense_Mutation_p.Q176E	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	176						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGAAGAAGTTGAGAGAGTTGA	0.448																																						uc001jlo.2																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(526-528)Caa>Gaa		Homo sapiens transmembrane protein 26 (TMEM26), mRNA.							114	115	114					10																	63188763		1939	4141	6080	SO:0001583	missense	219623					integral to membrane		g.chr10:63188763G>C	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.526C>G	10.37:g.63188763G>C	ENSP00000382237:p.Gln176Glu		Somatic				TMEM26_uc001jlq.3_Non-coding_Transcript	p.Q176E	NM_178505	NP_848600	WXS	Illumina GAIIx	Phase_I	Q6ZUK4	TMM26_HUMAN			3	895	-	Prostate(12;0.0112)		176					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.526C>G	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655870	0.47467	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.16	3.28	0.37604	.	0.357546	0.32785	N	0.005652	T	0.57784	0.2077	L	0.50919	1.6	0.53688	D	0.999978	B	0.12630	0.006	B	0.20184	0.028	T	0.55823	-0.8080	9	0.51188	T	0.08	-10.4701	15.2267	0.73357	0.0:0.3595:0.6405:0.0	.	176	Q6ZUK4	TMM26_HUMAN	E	176;86;176	.	ENSP00000277749:Q86E	Q	-	1	0	TMEM26	62858769	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	6.130000	0.71663	0.664000	0.31047	0.591000	0.81541	CAA		0.448	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		12	33	0	0	0	1	0	12	33					C	63188763	G	C	63188763	3	2	303	1	0	0	0	0	1	0	0	0	16148	1299	45	4	592	4	TMEM26	10	63188763	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	35668040	63188763	72345984	42	5318											
EHBP1L1	254102	broad.mit.edu	37	11	65349703	65349703	+	Silent	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:65349703G>C	ENST00000309295.4	+	9	1825	c.1560G>C	c.(1558-1560)ggG>ggC	p.G520G		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	520						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTATTGAGGGGACAGGCCTGG	0.637																																						uc001oeo.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1558-1560)ggG>ggC		Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.							17	19	18					11																	65349703		1944	4129	6073	SO:0001819	synonymous_variant	254102							g.chr11:65349703G>C	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1560G>C	11.37:g.65349703G>C			Somatic					p.G520G	NM_001099409	NP_001092879	WXS	Illumina GAIIx	Phase_I	Q8N3D4	EH1L1_HUMAN			8	1825	+			520					Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.1560G>C	CCDS44649.1																																																																																				0.637	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		4	14	0	0	0	1	0	4	14					C	65349703	G	C	65349703	2	2	303	1	0	0	0	0	0	0	0	1	4976	1161	41	4		4	EHBP1L1	11	65349703	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		65349703	69656813	43	5319											
ANO1	55107	broad.mit.edu	37	11	70007786	70007786	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:70007786G>A	ENST00000355303.5	+	18	2144	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ANO1_ENST00000538023.1_Silent_p.L613L|ANO1_ENST00000531349.1_Silent_p.L322L|ANO1_ENST00000530676.1_Silent_p.L467L|ANO1_ENST00000398543.2_Silent_p.L467L|ANO1_ENST00000316296.5_Silent_p.L555L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	613					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CTTTCCTGCTGAAGTTTGTGA	0.527																																						uc001opj.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1837-1839)ctG>ctA		Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.							198	204	202					11																	70007786		1945	4136	6081	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007786G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1839G>A	11.37:g.70007786G>A			Somatic				ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.L555L|ANO1_uc010rqk.2_Silent_p.L322L	p.L613L	NM_018043	NP_060513	WXS	Illumina GAIIx	Phase_I	Q5XXA6	ANO1_HUMAN			17	2144	+			613					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1839G>A	CCDS44663.1																																																																																				0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		20	103	0	0	0	1	0	20	103					A	70007786	G	A	70007786	2	1	303	1	0	0	0	0	0	0	0	1	695	1277	45	2		2	ANO1	11	70007786	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	4658083	70007786	64998730	44	5320											
GRIN2B	2904	broad.mit.edu	37	12	13769559	13769559	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:13769559C>T	ENST00000609686.1	-	5	1367	c.1158G>A	c.(1156-1158)atG>atA	p.M386I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	386					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)	CATAGTACTTCATCTGCAGGG	0.502																																						uc001rbt.2																			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.(1156-1158)atG>atA		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						164	152	156					12																	13769559		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	g.chr12:13769559C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1158G>A	12.37:g.13769559C>T	ENSP00000477455:p.Met386Ile		Somatic					p.M386I	NM_000834	NP_000825	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			4	1337	-			386					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1158G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558937	0.65538	.	.	ENSG00000150086	ENST00000279593	T	0.05199	3.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	L	0.39898	1.24	0.80722	D	1	B	0.33807	0.426	B	0.38225	0.268	T	0.08472	-1.0720	10	0.52906	T	0.07	.	19.4461	0.94847	0.0:1.0:0.0:0.0	.	386	Q13224	NMDE2_HUMAN	I	386	ENSP00000279593:M386I	ENSP00000279593:M386I	M	-	3	0	GRIN2B	13660826	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.994000	0.70623	2.575000	0.86900	0.557000	0.71058	ATG		0.502	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			11	67	0	0	0	1	0	11	67					T	13769559	C	T	13769559	3	4	303	1	0	0	0	0	1	0	0	0	6780	826	29	2	3332	2	GRIN2B	12	13769559	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		13769559	120082336	45	5321											
FAIM2	23017	broad.mit.edu	37	12	50264321	50264321	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:50264321A>G	ENST00000320634.3	-	12	1011	c.917T>C	c.(916-918)tTc>tCc	p.F306S	FAIM2_ENST00000550890.1_Missense_Mutation_p.F260S	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	306					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGCAGGAAGAAGGTGAAGAT	0.552																																						uc001rvj.2																			0				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						c.(916-918)tTc>tCc		Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.							102	89	94					12																	50264321		2203	4300	6503	SO:0001583	missense	23017				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		g.chr12:50264321A>G	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.917T>C	12.37:g.50264321A>G	ENSP00000321951:p.Phe306Ser		Somatic				FAIM2_uc001rvi.2_Missense_Mutation_p.F260S	p.F306S	NM_012306	NP_036438	WXS	Illumina GAIIx	Phase_I	Q9BWQ8	FAIM2_HUMAN			11	1102	-			306					A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	c.917T>C	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637146	0.87760	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669	T;T;T	0.40225	1.04;1.04;1.04	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51529	-0.8694	10	0.29301	T	0.29	-17.5054	12.4394	0.55617	1.0:0.0:0.0:0.0	.	306	Q9BWQ8	FAIM2_HUMAN	S	306;260;306;264	ENSP00000321951:F306S;ENSP00000450132:F260S;ENSP00000446771:F264S	ENSP00000321951:F306S	F	-	2	0	FAIM2	48550588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.471000	0.80985	1.838000	0.53458	0.460000	0.39030	TTC		0.552	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		30	49	0	0	0	1	0	30	49					G	50264321	A	G	50264321	3	3	303	1	0	0	0	0	1	0	0	0	5376	246	9	3	37	3	FAIM2	12	50264321	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	36494762	50264321	83587574	46	5322											
PIP4K2C	79837	broad.mit.edu	37	12	57985101	57985101	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:57985101C>T	ENST00000354947.5	+	1	45	c.29C>T	c.(28-30)aCg>aTg	p.T10M	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.T10M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.T10M|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.T10M			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	10						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCACCAGCCACGGTATCGGCG	0.672																																						uc001sou.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(28-30)aCg>aTg		Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.							43	52	49					12																	57985101		2202	4297	6499	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57985101C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.29C>T	12.37:g.57985101C>T	ENSP00000347032:p.Thr10Met		Somatic				PIP4K2C_uc001sot.3_Missense_Mutation_p.T10M|PIP4K2C_uc010srs.2_Missense_Mutation_p.T10M|PIP4K2C_uc010srt.2_Missense_Mutation_p.T10M	p.T10M	NM_001146258	NP_079055	WXS	Illumina GAIIx	Phase_I	Q8TBX8	PI42C_HUMAN			0	160	+	Melanoma(17;0.122)		10					B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.29C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	6.823	0.520903	0.13005	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.42	0.338	0.15974	.	0.590596	0.17290	N	0.179693	T	0.25717	0.0626	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17667	0.001;0.023;0.023	B;B;B	0.04013	0.001;0.001;0.001	T	0.13229	-1.0517	10	0.44086	T	0.13	-5.145	6.755	0.23507	0.0:0.5544:0.3406:0.105	.	10;10;10	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	M	10	ENSP00000412035:T10M;ENSP00000439878:T10M;ENSP00000450197:T10M;ENSP00000447390:T10M;ENSP00000347032:T10M	ENSP00000347032:T10M	T	+	2	0	PIP4K2C	56271368	0.952000	0.32445	0.004000	0.12327	0.045000	0.14185	1.037000	0.30241	0.064000	0.16427	0.313000	0.20887	ACG		0.672	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		21	67	0	0	0	1	0	21	67					T	57985101	C	T	57985101	3	4	303	1	0	0	0	0	1	0	0	0	11938	536	19	1	31	1	PIP4K2C	12	57985101	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	7720780	57985101	75866794	47	5323											
CAND1	55832	broad.mit.edu	37	12	67699222	67699222	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:67699222T>A	ENST00000545606.1	+	10	2211	c.1774T>A	c.(1774-1776)Tgt>Agt	p.C592S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	592					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)		GGCTATTTCCTGTATGGGACA	0.368																																						uc001stn.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1774-1776)Tgt>Agt		Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.							119	120	120					12																	67699222		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.chr12:67699222T>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1774T>A	12.37:g.67699222T>A	ENSP00000442318:p.Cys592Ser		Somatic				CAND1_uc001sto.2_Intron	p.C592S	NM_018448	NP_060918	WXS	Illumina GAIIx	Phase_I	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)	9	2211	+			592					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1774T>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892261	0.52014	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.59906	0.23	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.77675	-0.2499	9	.	.	.	-8.9156	16.013	0.80417	0.0:0.0:0.0:1.0	.	592	Q86VP6	CAND1_HUMAN	S	592	ENSP00000442318:C592S	.	C	+	1	0	CAND1	65985489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.981000	0.88123	2.183000	0.69458	0.528000	0.53228	TGT		0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	116	0	0	0	1	0	7	116					A	67699222	T	A	67699222	3	1	303	1	0	0	0	0	1	0	0	0	2615	1580	55	5	1812	5	CAND1	12	67699222	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	9714121	67699222	66152673	48	5324											
VEZT	55591	broad.mit.edu	37	12	95660246	95660246	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:95660246G>C	ENST00000436874.1	+	5	653	c.548G>C	c.(547-549)aGa>aCa	p.R183T	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R135T	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	183					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTGGTCATAAGAGCTTTGAGA	0.428																																						uc001tdz.2																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(547-549)aGa>aCa		Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.							244	233	237					12																	95660246		1903	4128	6031	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660246G>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.548G>C	12.37:g.95660246G>C	ENSP00000410083:p.Arg183Thr		Somatic				VEZT_uc001tds.3_Missense_Mutation_p.R135T|VEZT_uc001tdv.3_Missense_Mutation_p.R152T|VEZT_uc009zsy.1_Missense_Mutation_p.R25T|VEZT_uc001tdr.2_Missense_Mutation_p.R25T|VEZT_uc001tdt.2_Missense_Mutation_p.R135T|VEZT_uc009zsz.1_Missense_Mutation_p.R183T|VEZT_uc001tdw.1_Missense_Mutation_p.R135T|VEZT_uc009zta.1_Missense_Mutation_p.R135T	p.R183T	NM_017599	NP_060069	WXS	Illumina GAIIx	Phase_I	Q9HBM0	VEZA_HUMAN			4	653	+			183					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.548G>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174339	0.38413	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T;T	0.61627	1.0;0.09;1.0;1.0	5.09	4.21	0.49690	.	0.046432	0.85682	D	0.000000	T	0.60340	0.2261	M	0.64997	1.995	0.45194	D	0.998208	P;B;B;B	0.36683	0.565;0.031;0.025;0.031	P;B;B;B	0.46543	0.52;0.048;0.017;0.026	T	0.56306	-0.8001	10	0.27082	T	0.32	-31.0163	9.5674	0.39407	0.0755:0.1418:0.7828:0.0	.	183;183;135;135	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	T	183;153;135;135;183	ENSP00000410083:R183T;ENSP00000449591:R153T;ENSP00000261219:R135T;ENSP00000380894:R135T	ENSP00000261219:R135T	R	+	2	0	VEZT	94184377	1.000000	0.71417	0.904000	0.35570	0.460000	0.32559	4.695000	0.61767	1.261000	0.44149	0.650000	0.86243	AGA		0.428	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		38	224	0	0	0	1	0	38	224					C	95660246	G	C	95660246	3	2	303	1	0	0	0	0	1	0	0	0	17153	942	33	4	566	4	VEZT	12	95660246	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	27961024	95660246	38191649	49	5325											
SACS	26278	broad.mit.edu	37	13	23909544	23909544	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:23909544G>A	ENST00000382292.3	-	9	8744	c.8471C>T	c.(8470-8472)tCa>tTa	p.S2824L	SACS_ENST00000382298.3_Missense_Mutation_p.S2824L|SACS_ENST00000402364.1_Missense_Mutation_p.S2074L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2824					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)		TGAAAAGCCTGATCTATTACA	0.393																																						uc001uon.2																			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.(8470-8472)tCa>tTa		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							93	88	90					13																	23909544		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	g.chr13:23909544G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8471C>T	13.37:g.23909544G>A	ENSP00000371729:p.Ser2824Leu		Somatic				SACS_uc001uoo.2_Missense_Mutation_p.S2677L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S2824L	NM_014363	NP_055178	WXS	Illumina GAIIx	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	9060	-		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)	2824					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8471C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950861	0.53186	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86562	-1.99;-2.14;-1.99	5.65	5.65	0.86999	.	0.066663	0.64402	D	0.000007	T	0.78451	0.4285	N	0.19112	0.55	0.49389	D	0.999787	B	0.30824	0.296	B	0.26094	0.066	T	0.74957	-0.3487	10	0.10902	T	0.67	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	2824	Q9NZJ4	SACS_HUMAN	L	2824;2074;2824	ENSP00000371729:S2824L;ENSP00000385844:S2074L;ENSP00000371735:S2824L	ENSP00000371729:S2824L	S	-	2	0	SACS	22807544	1.000000	0.71417	0.622000	0.29159	0.972000	0.66771	9.476000	0.97823	2.684000	0.91462	0.555000	0.69702	TCA		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		12	53	0	0	0	1	0	12	53					A	23909544	G	A	23909544	3	1	303	1	0	0	0	0	1	0	0	0	13804	1294	45	2	5272	2	SACS	13	23909544	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		23909544	91260334	50	5326											
UGGT2	55757	broad.mit.edu	37	13	96555252	96555252	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:96555252C>G	ENST00000376747.3	-	21	2428	c.2358G>C	c.(2356-2358)gaG>gaC	p.E786D		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	786					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGCTGTGTTCTCTTCATTTA	0.333																																						uc001vmt.3																			0		p.E786*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2356-2358)gaG>gaC		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.							76	78	78					13																	96555252		2202	4298	6500	SO:0001583	missense	55757				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555252C>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2358G>C	13.37:g.96555252C>G	ENSP00000365938:p.Glu786Asp		Somatic					p.E786D	NM_020121	NP_064506	WXS	Illumina GAIIx	Phase_I	Q9NYU1	UGGG2_HUMAN			20	2528	-			786					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2358G>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540223	0.27563	.	.	ENSG00000102595	ENST00000376747	T	0.08458	3.09	5.66	-3.31	0.04988	.	0.225320	0.44902	D	0.000404	T	0.06554	0.0168	L	0.51853	1.615	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34079	-0.9843	10	0.21014	T	0.42	-19.0103	9.1435	0.36919	0.1089:0.3653:0.0:0.5258	.	786	Q9NYU1	UGGG2_HUMAN	D	786	ENSP00000365938:E786D	ENSP00000365938:E786D	E	-	3	2	UGGT2	95353253	0.126000	0.22350	0.946000	0.38457	0.992000	0.81027	-0.784000	0.04633	-0.671000	0.05274	-0.142000	0.14014	GAG		0.333	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		7	40	0	0	0	1	0	7	40					G	96555252	C	G	96555252	3	3	303	1	0	0	0	0	1	0	0	0	16939	912	32	4	2268	4	UGGT2	13	96555252	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	72645708	96555252	18614626	51	5327											
FAM179B	23116	broad.mit.edu	37	14	45433228	45433228	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:45433228C>T	ENST00000361577.3	+	1	1818	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.A535V|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A535V|KLHL28_ENST00000553817.1_5'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	535										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGCTTTTGCCGTATTGGCA	0.453																																						uc001wvw.3																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1603-1605)gCc>gTc		Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.							118	113	115					14																	45433228		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433228C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1604C>T	14.37:g.45433228C>T	ENSP00000355045:p.Ala535Val		Somatic				FAM179B_uc001wvv.3_Missense_Mutation_p.A535V|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A535V|FAM179B_uc001wvu.3_Missense_Mutation_p.A535V	p.A535V	NM_015091	NP_055906	WXS	Illumina GAIIx	Phase_I	Q9Y4F4	F179B_HUMAN			0	1813	+			535					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1604C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232669	0.79688	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.65549	-0.16;-0.16;-0.16	4.69	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.72819	0.3508	L	0.45051	1.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.996	T	0.71731	-0.4504	10	0.38643	T	0.18	-12.067	17.4048	0.87470	0.0:1.0:0.0:0.0	.	535;535;535;535	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	535	ENSP00000355045:A535V;ENSP00000354917:A535V;ENSP00000371668:A535V	ENSP00000354917:A535V	A	+	2	0	FAM179B	44502978	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.364000	0.79526	2.427000	0.82271	0.561000	0.74099	GCC		0.453	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	145	0	0	0	1	0	4	145					T	45433228	C	T	45433228	3	4	303	1	0	0	0	0	1	0	0	0	5506	739	26	2	1606	2	FAM179B	14	45433228	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		45433228	61916312	52	5328											
FCF1	51077	broad.mit.edu	37	14	75190043	75190043	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:75190043C>G	ENST00000341162.4	+	5	415	c.361C>G	c.(361-363)Cta>Gta	p.L121V	FCF1_ENST00000534938.2_Missense_Mutation_p.L109V|FCF1_ENST00000553615.1_Missense_Mutation_p.L106V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	121	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TCGAGTGGCTCTAAGGTAGGA	0.378																																						uc001xqh.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(361-363)Cta>Gta		Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA.							107	102	104					14																	75190043		2203	4300	6503	SO:0001583	missense	51077				rRNA processing	nucleolus		g.chr14:75190043C>G	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 111", "FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.361C>G	14.37:g.75190043C>G	ENSP00000344393:p.Leu121Val		Somatic				FCF1_uc001xqf.1_Missense_Mutation_p.L106V|FCF1_uc001xqi.3_Non-coding_Transcript	p.L121V	NM_015962	NP_057046	WXS	Illumina GAIIx	Phase_I	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	4	412	+			121			PINc.		Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	c.361C>G	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427017	0.62733	.	.	ENSG00000119616	ENST00000554590;ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.39	2.6	0.31112	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.90252	3.1	0.80722	D	1	D;D	0.67145	0.996;0.957	D;D	0.68039	0.954;0.955	T	0.74300	-0.3710	9	0.62326	D	0.03	.	4.6824	0.12741	0.1459:0.5516:0.0:0.3025	.	121;106	Q9Y324;G3V5S9	FCF1_HUMAN;.	V	32;121;109;106	.	ENSP00000344393:L121V	L	+	1	2	FCF1	74259796	0.913000	0.31002	0.995000	0.50966	0.917000	0.54804	1.800000	0.38833	0.403000	0.25479	-0.136000	0.14681	CTA		0.378	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		9	32	0	0	0	1	0	9	32					G	75190043	C	G	75190043	3	3	303	1	0	0	0	0	1	0	0	0	5777	912	32	4	379	4	FCF1	14	75190043	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	29756815	75190043	32159497	53	5329											
SERPINA5	5104	broad.mit.edu	37	14	95058528	95058528	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:95058528C>T	ENST00000554866.1	+	5	1287	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SERPINA5_ENST00000329597.7_Silent_p.F391F|RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.F391F|SERPINA5_ENST00000553780.1_Silent_p.F391F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	391					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTGATGTTCATTGTGGATA	0.562																																						uc001ydm.2																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1171-1173)ttC>ttT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						214	232	226					14																	95058528		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058528C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1173C>T	14.37:g.95058528C>T			Somatic				SERPINA3_uc001ydo.4_Intron	p.F391F	NM_000624	NP_000615	WXS	Illumina GAIIx	Phase_I	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	5	1383	+			391					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.1173C>T	CCDS9928.1																																																																																				0.562	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		57	360	0	0	0	1	0	57	360					T	95058528	C	T	95058528	2	4	303	1	0	0	0	0	0	0	0	1	14092	825	29	2		2	SERPINA5	14	95058528	Silent	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	19868485	95058528	12291012	54	5330											
CASC4	113201	broad.mit.edu	37	15	44630079	44630079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:44630079C>G	ENST00000345795.2	+	5	965	c.695C>G	c.(694-696)tCa>tGa	p.S232*	CASC4_ENST00000299957.6_Nonsense_Mutation_p.S232*|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	232						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GAAGAACCCTCAAGCAATCAT	0.299																																						uc001ztp.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(694-696)tCa>tGa		Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.							85	84	84					15																	44630079		2198	4295	6493	SO:0001587	stop_gained	113201					integral to membrane		g.chr15:44630079C>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.695C>G	15.37:g.44630079C>G	ENSP00000335063:p.Ser232*		Somatic				CASC4_uc001ztq.3_Nonsense_Mutation_p.S232*|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Nonsense_Mutation_p.S232*	p.S232*	NM_138423	NP_612432	WXS	Illumina GAIIx	Phase_I	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	4	1014	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	232					B4DPZ6|G5E934|Q6UY45|Q96EM1	Nonsense_Mutation	SNP	ENST00000345795.2	37	c.695C>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435891	0.96168	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.89	4.89	0.63831	.	0.562584	0.17612	N	0.168033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.0683	0.72014	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;211	.	ENSP00000299957:S232X	S	+	2	0	CASC4	42417371	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.129000	0.57957	2.536000	0.85505	0.561000	0.74099	TCA		0.299	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		3	58	0	0	0	1	0	3	58					G	44630079	C	G	44630079	4	3	303	1	0	0	0	0	0	1	0	0	2662	838	29	4	713	4	CASC4	15	44630079	Nonsense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		44630079	57901313	55	5331											
DMXL2	23312	broad.mit.edu	37	15	51791873	51791873	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:51791873A>G	ENST00000251076.5	-	18	3835	c.3548T>C	c.(3547-3549)cTt>cCt	p.L1183P	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1183P|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1183						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)		TCCCACTGTAAGAATGTGGGA	0.408																																						uc010ufy.2																			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.(3547-3549)cTt>cCt		Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.							67	63	64					15																	51791873		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791873A>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3548T>C	15.37:g.51791873A>G	ENSP00000251076:p.Leu1183Pro		Somatic				DMXL2_uc002abf.3_Missense_Mutation_p.L1183P|DMXL2_uc010bfa.3_Intron	p.L1183P	NM_001174116	NP_001167587	WXS	Illumina GAIIx	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	17	3773	-			1183					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3548T>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.322367	0.60634	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.61392	0.12;0.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.81035	-0.1115	10	0.87932	D	0	.	15.1326	0.72536	1.0:0.0:0.0:0.0	.	1183;1183	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	P	1183	ENSP00000251076:L1183P;ENSP00000441858:L1183P	ENSP00000251076:L1183P	L	-	2	0	DMXL2	49579165	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.930000	0.92872	1.973000	0.57446	0.482000	0.46254	CTT		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		3	40	0	0	0	1	0	3	40					G	51791873	A	G	51791873	3	3	303	1	0	0	0	0	1	0	0	0	4595	72	3	3	5669	3	DMXL2	15	51791873	Missense_Mutation	SNP	A	TCGA-ET-A2MY-01A-11D-A18F-08	7161794	51791873	50739519	56	5332											
DYX1C1	161582	broad.mit.edu	37	15	55727220	55727220	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:55727220G>C	ENST00000321149.3	-	8	1297	c.930C>G	c.(928-930)atC>atG	p.I310M	DYX1C1_ENST00000457155.2_Missense_Mutation_p.I310M|DYX1C1_ENST00000348518.3_Missense_Mutation_p.I310M|DYX1C1_ENST00000448430.2_Missense_Mutation_p.I310M|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Missense_Mutation_p.I310M	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	310					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TATATGCATTGATAGCTGCCA	0.318																																						uc002adc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(928-930)atC>atG		Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.							79	81	80					15																	55727220		2191	4290	6481	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55727220G>C		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.930C>G	15.37:g.55727220G>C	ENSP00000323275:p.Ile310Met		Somatic				CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Missense_Mutation_p.I310M|DYX1C1_uc002add.3_Missense_Mutation_p.I310M	p.I310M	NM_130810	NP_570722	WXS	Illumina GAIIx	Phase_I	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	7	1298	-			310					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.930C>G	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772341	0.49680	.	.	ENSG00000256061	ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.23	0.054	0.14308	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.324515	0.26715	U	0.022866	T	0.73345	0.3575	M	0.80183	2.485	0.23271	N	0.998004	P;P;D	0.57257	0.913;0.754;0.979	P;D;P	0.63033	0.805;0.91;0.79	T	0.63589	-0.6603	10	0.87932	D	0	-12.6876	1.7361	0.02942	0.3841:0.2161:0.2868:0.113	.	310;310;310	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	M	310	ENSP00000403412:I310M;ENSP00000370054:I310M;ENSP00000402640:I310M;ENSP00000323275:I310M;ENSP00000299561:I310M	ENSP00000323275:I310M	I	-	3	3	DYX1C1	53514512	0.991000	0.36638	0.881000	0.34555	0.895000	0.52256	0.329000	0.19698	-0.149000	0.11215	-1.012000	0.02466	ATC		0.318	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		13	75	0	0	0	1	0	13	75					C	55727220	G	C	55727220	3	2	303	1	0	0	0	0	1	0	0	0	4862	1280	45	4	447	4	DYX1C1	15	55727220	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	3935347	55727220	46804172	57	5333											
PRC1	9055	broad.mit.edu	37	15	91523559	91523559	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:91523559C>T	ENST00000361188.5	-	7	2094	c.883G>A	c.(883-885)Gag>Aag	p.E295K	PRC1_ENST00000394249.3_Missense_Mutation_p.E295K|PRC1_ENST00000442656.2_Missense_Mutation_p.E254K|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E295K					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAATTGCCTCAATCACTTTC	0.443																																						uc002bqm.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(883-885)Gag>Aag		Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.							200	164	176					15																	91523559		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91523559C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.883G>A	15.37:g.91523559C>T	ENSP00000354679:p.Glu295Lys		Somatic				PRC1_uc002bqn.3_Missense_Mutation_p.E295K|PRC1_uc002bqo.3_Missense_Mutation_p.E295K|PRC1_uc010uqs.2_Missense_Mutation_p.E254K	p.E295K	NM_003981	NP_003972	WXS	Illumina GAIIx	Phase_I	O43663	PRC1_HUMAN			6	1040	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		295			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.883G>A	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575662	0.86645	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656;ENST00000556982	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	6.17	6.17	0.99709	.	0.151419	0.56097	D	0.000021	T	0.53546	0.1803	M	0.81802	2.56	0.50313	D	0.999866	P;P;P;P	0.47106	0.866;0.866;0.866;0.89	P;P;P;P	0.54664	0.644;0.644;0.644;0.758	T	0.48980	-0.8986	10	0.07990	T	0.79	.	16.9727	0.86304	0.0:0.8726:0.1274:0.0	.	254;295;295;295	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	K	295;295;295;254;69	ENSP00000377793:E295K;ENSP00000354618:E295K;ENSP00000354679:E295K;ENSP00000409549:E254K	ENSP00000354679:E295K	E	-	1	0	PRC1	89324563	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.861000	0.56002	2.941000	0.99782	0.655000	0.94253	GAG		0.443	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		18	90	0	0	0	1	0	18	90					T	91523559	C	T	91523559	3	4	303	1	0	0	0	0	1	0	0	0	12446	835	29	2	1015	2	PRC1	15	91523559	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	35796339	91523559	11007833	58	5334											
GPR114	221188	broad.mit.edu	37	16	57601840	57601840	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:57601840C>G	ENST00000340339.4	+	9	1417	c.894C>G	c.(892-894)ttC>ttG	p.F298L	GPR114_ENST00000349457.3_Missense_Mutation_p.F298L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	298					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(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACATCGCCTTCCTGCTGAGCC	0.612																																						uc002elx.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(892-894)ttC>ttG		Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.							101	78	86					16																	57601840		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57601840C>G	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.894C>G	16.37:g.57601840C>G	ENSP00000342981:p.Phe298Leu		Somatic				GPR114_uc010vhr.2_Missense_Mutation_p.F298L|GPR114_uc002ely.3_Missense_Mutation_p.F298L	p.F298L	NM_153837	NP_722579	WXS	Illumina GAIIx	Phase_I	Q8IZF4	GP114_HUMAN			8	979	+			298					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.894C>G	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568347	0.65651	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.44482	0.92;0.92	4.05	4.05	0.47172	GPCR, family 2-like (1);	0.000000	0.46758	U	0.000274	T	0.63686	0.2532	M	0.82132	2.575	0.54753	D	0.99998	D;P	0.55605	0.972;0.698	D;B	0.66602	0.945;0.207	T	0.70085	-0.4969	10	0.87932	D	0	.	13.4036	0.60898	0.0:1.0:0.0:0.0	.	298;298	B4E148;Q8IZF4	.;GP114_HUMAN	L	298	ENSP00000342981:F298L;ENSP00000290823:F298L	ENSP00000342981:F298L	F	+	3	2	GPR114	56159341	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.512000	0.45485	1.977000	0.57605	0.574000	0.79327	TTC		0.612	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		6	25	0	0	0	1	0	6	25					G	57601840	C	G	57601840	3	3	303	1	0	0	0	0	1	0	0	0	6631	854	30	4	924	4	GPR114	16	57601840	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		57601840	32752913	59	5335											
ZFPM1	161882	broad.mit.edu	37	16	88600417	88600417	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:88600417T>A	ENST00000319555.3	+	10	2373	c.2051T>A	c.(2050-2052)cTg>cAg	p.L684Q	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	684					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGCCGCACGCTGTGCGAGGCC	0.756																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2050-2052)cTg>cAg		Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.							5	5	5					16																	88600417		1631	3428	5059	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88600417T>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2051T>A	16.37:g.88600417T>A	ENSP00000326630:p.Leu684Gln		Somatic					p.L684Q	NM_153813	NP_722520	WXS	Illumina GAIIx	Phase_I	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	9	2084	+			684						Missense_Mutation	SNP	ENST00000319555.3	37	c.2051T>A	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	t	10.86	1.468902	0.26335	.	.	ENSG00000179588	ENST00000319555	T	0.29655	1.56	3.01	3.01	0.34805	Zinc finger, C2H2-like (1);	0.279397	0.29884	U	0.010949	T	0.35219	0.0924	L	0.36672	1.1	0.30520	N	0.768526	D	0.61697	0.99	P	0.56343	0.796	T	0.23297	-1.0192	10	0.45353	T	0.12	.	10.3204	0.43762	0.0:0.0:0.0:1.0	.	684	Q8IX07	FOG1_HUMAN	Q	684	ENSP00000326630:L684Q	ENSP00000326630:L684Q	L	+	2	0	ZFPM1	87127918	0.009000	0.17119	1.000000	0.80357	0.767000	0.43475	0.468000	0.22051	1.159000	0.42565	0.130000	0.15844	CTG		0.756	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			3	11	0	0	0	1	0	3	11					A	88600417	T	A	88600417	3	1	303	1	0	0	0	0	1	0	0	0	17654	1580	55	5	2089	5	ZFPM1	16	88600417	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08	30998577	88600417	1754336	60	5336											
DNAH9	1770	broad.mit.edu	37	17	11515089	11515089	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:11515089T>C	ENST00000262442.4	+	4	964	c.896T>C	c.(895-897)gTt>gCt	p.V299A	DNAH9_ENST00000454412.2_Missense_Mutation_p.V299A|DNAH9_ENST00000579828.1_Missense_Mutation_p.V299A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	299	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACAGAGATGTTGTTGCAGGT	0.453																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(895-897)gTt>gCt		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							133	121	125					17																	11515089		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11515089T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.896T>C	17.37:g.11515089T>C	ENSP00000262442:p.Val299Ala		Somatic				DNAH9_uc002gnd.1_Missense_Mutation_p.V299A	p.V299A	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	3	964	+		Breast(5;0.0122)|all_epithelial(5;0.131)	299			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.896T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139180	0.56936	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.60299	0.2;0.2	5.69	5.69	0.88448	Dynein heavy chain, domain-1 (1);	0.312166	0.29602	N	0.011698	T	0.78960	0.4366	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.71414	0.936;0.973	T	0.83031	-0.0162	10	0.87932	D	0	.	15.6096	0.76704	0.0:0.0:0.0:1.0	.	299;299	Q9NYC9;E7EP17	DYH9_HUMAN;.	A	299	ENSP00000262442:V299A;ENSP00000414874:V299A	ENSP00000262442:V299A	V	+	2	0	DNAH9	11455814	1.000000	0.71417	0.024000	0.17045	0.173000	0.22820	7.098000	0.76974	2.167000	0.68274	0.496000	0.49642	GTT		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	83	0	0	0	1	0	4	83					C	11515089	T	C	11515089	3	2	303	1	0	0	0	0	1	0	0	0	4608	1725	60	3	910	3	DNAH9	17	11515089	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		11515089	69680121	61	5337											
KAT2A	2648	broad.mit.edu	37	17	40271403	40271403	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:40271403G>A	ENST00000225916.5	-	6	986	c.933C>T	c.(931-933)taC>taT	p.Y311Y		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	311					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						GAGTGGTTTCGTAGCGGGGGA	0.582																																						uc002hyx.2																			0		p.R310R(1)		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.(931-933)taC>taT		Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.							102	98	99					17																	40271403		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:40271403G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.933C>T	17.37:g.40271403G>A			Somatic					p.Y311Y	NM_021078	NP_066564	WXS	Illumina GAIIx	Phase_I	Q92830	KAT2A_HUMAN			5	993	-			311					Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	c.933C>T	CCDS11417.1																																																																																				0.582	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		44	69	0	0	0	1	0	44	69					A	40271403	G	A	40271403	2	1	303	1	0	0	0	0	0	0	0	1	7981	1140	40	1		1	KAT2A	17	40271403	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	28756314	40271403	40923807	62	5338											
EVPL	2125	broad.mit.edu	37	17	74005905	74005905	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:74005905G>C	ENST00000301607.3	-	22	3634	c.3381C>G	c.(3379-3381)atC>atG	p.I1127M	EVPL_ENST00000586740.1_Missense_Mutation_p.I1149M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1127	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCGAGCTGATAGCCCGCT	0.642																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3445-3447)atC>atG		Homo sapiens envoplakin (EVPL), mRNA.							43	44	44					17																	74005905		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005905G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3381C>G	17.37:g.74005905G>C	ENSP00000301607:p.Ile1127Met		Somatic				EVPL_uc002jqi.2_Missense_Mutation_p.I1127M|EVPL_uc010wst.1_Missense_Mutation_p.I597M	p.I1149M	NM_001988	NP_001979	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			21	3675	-			1127			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3447C>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474426	0.26423	.	.	ENSG00000167880	ENST00000301607	T	0.41400	1.0	5.17	5.17	0.71159	.	0.050671	0.85682	D	0.000000	T	0.59622	0.2207	M	0.76002	2.32	0.42281	D	0.99209	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.63180	-0.6695	10	0.56958	D	0.05	-29.1466	6.7456	0.23460	0.2212:0.0:0.7788:0.0	.	1149;1127	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1127	ENSP00000301607:I1127M	ENSP00000301607:I1127M	I	-	3	3	EVPL	71517500	1.000000	0.71417	0.204000	0.23530	0.036000	0.12997	2.331000	0.43894	2.419000	0.82065	0.491000	0.48974	ATC		0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		18	39	0	0	0	1	0	18	39					C	74005905	G	C	74005905	3	2	303	1	0	0	0	0	1	0	0	0	5292	1280	45	4	2724	4	EVPL	17	74005905	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	33734502	74005905	7189305	63	5339											
ANAPC11	51529	broad.mit.edu	37	17	79857212	79857212	+	Intron	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:79857212C>T	ENST00000575195.2	+	2	289				ANAPC11_ENST00000357385.3_Silent_p.I68I|ANAPC11_ENST00000571024.2_Intron|NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000579133.1_Intron|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000577747.1_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGTGCCCATCAACACAGCTT	0.607																																						uc002kby.1																			0				kidney(1)|lung(1)	2						c.(202-204)atC>atT		Homo sapiens anaphase promoting complex subunit 11 (ANAPC11), transcript variant 1, mRNA.							70	62	65					17																	79857212		2203	4299	6502	SO:0001627	intron_variant	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857212C>T	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"Anaphase promoting complex subunits"	14452	protein-coding gene	gene with protein product		614534	"anaphase promoting complex subunit 11 (yeast APC11 homolog)"			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-584C>T	17.37:g.79857212C>T			Somatic				ANAPC11_uc002kbv.1_Intron|ANAPC11_uc002kbw.1_Intron|ANAPC11_uc002kbx.1_Intron|ANAPC11_uc002kbz.1_Intron|ANAPC11_uc002kca.1_Intron|ANAPC11_uc002kcb.1_Intron|ANAPC11_uc002kcc.1_Intron|ANAPC11_uc010dih.1_Intron|NPB_uc002kcd.3_5'Flank	p.I68I	NM_001002244	NP_001002244	WXS	Illumina GAIIx	Phase_I	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		2	356	+	all_neural(118;0.0878)|Ovarian(332;0.12)		0					A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Silent	SNP	ENST00000575195.2	37	c.204C>T	CCDS11789.1																																																																																				0.607	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		9	30	0	0	0	1	0	9	30					T	79857212	C	T	79857212	1	4	303	0	1	0	0	0	0	0	0	0	600	816	29	2		2	ANAPC11	17	79857212	Intron	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	5851307	79857212	1337998	64	5340											
PPAN	56342	broad.mit.edu	37	19	10221422	10221422	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:10221422G>A	ENST00000253107.7	+	11	1187	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E361K|SNORD105B_ENST00000458770.1_RNA|P2RY11_ENST00000321826.4_5'Flank|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.E361K|PPAN_ENST00000393793.1_Missense_Mutation_p.E308K|PPAN_ENST00000556468.1_Missense_Mutation_p.E361K	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	361					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGGTAGTGATGAAGAGGCCTC	0.602																																						uc002mna.3																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1081-1083)Gaa>Aaa		Homo sapiens PPAN-P2RY11 readthrough (PPAN-P2RY11), transcript variant 1, mRNA.							72	79	77					19																	10221422		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10221422G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1081G>A	19.37:g.10221422G>A	ENSP00000253107:p.Glu361Lys		Somatic				PPAN-P2RY11_uc010xla.2_Missense_Mutation_p.E361K|PPAN-P2RY11_uc002mnc.3_5'Flank|PPAN-P2RY11_uc002mmz.2_Missense_Mutation_p.E361K	p.E361K	NM_001040664	NP_001035754	WXS	Illumina GAIIx	Phase_I	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		10	1253	+			361					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.1081G>A	CCDS12225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.68|13.68	2.308677|2.308677	0.40895|0.40895	.|.	.|.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810|ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793|ENST00000444703	T;T;T;T;T|.	0.62941|.	1.45;-0.01;1.47;-0.01;1.48|.	4.78|4.78	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.42449|0.42449	0.1203|0.1203	L|L	0.29908|0.29908	0.895|0.895	0.30566|0.30566	N|N	0.764024|0.764024	B;B;B|.	0.29716|.	0.255;0.255;0.255|.	B;B;B|.	0.26614|.	0.071;0.037;0.053|.	T|T	0.41945|0.41945	-0.9480|-0.9480	9|5	0.10636|.	T|.	0.68|.	-7.0665|-7.0665	13.6734|13.6734	0.62438|0.62438	0.0:0.1567:0.8433:0.0|0.0:0.1567:0.8433:0.0	.|.	361;361;361|.	C9J3F9;C9JW41;Q9NQ55|.	.;.;SSF1_HUMAN|.	K|I	361;361;361;361;361;308|120	ENSP00000411918:E361K;ENSP00000377385:E361K;ENSP00000253107:E361K;ENSP00000450710:E361K;ENSP00000377382:E308K|.	ENSP00000253107:E361K|.	E|M	+|+	1|3	0|0	PPAN;PPAN-P2RY11|PPAN	10082422|10082422	0.998000|0.998000	0.40836|0.40836	0.008000|0.008000	0.14137|0.14137	0.001000|0.001000	0.01503|0.01503	5.560000|5.560000	0.67332|0.67332	0.966000|0.966000	0.38159|0.38159	0.561000|0.561000	0.74099|0.74099	GAA|ATG		0.602	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		7	91	0	0	0	1	0	7	91					A	10221422	G	A	10221422	3	1	303	1	0	0	0	0	1	0	0	0	12288	1291	45	2	1123	2	PPAN	19	10221422	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		10221422	48907561	65	5341											
ZNF528	84436	broad.mit.edu	37	19	52919958	52919958	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:52919958C>G	ENST00000360465.3	+	7	2279	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	618					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGTCACAATTCTGACCTTGCA	0.418																																						uc002pzh.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1852-1854)tCt>tGt		Homo sapiens zinc finger protein 528 (ZNF528), mRNA.							62	60	60					19																	52919958		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919958C>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1853C>G	19.37:g.52919958C>G	ENSP00000353652:p.Ser618Cys		Somatic				ZNF528_uc002pzi.3_Missense_Mutation_p.S385C	p.S618C	NM_032423	NP_115799	WXS	Illumina GAIIx	Phase_I	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	6	2279	+			618					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1853C>G	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459332	0.26248	.	.	ENSG00000167555	ENST00000360465	T	0.33654	1.4	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59459	0.2195	M	0.83852	2.665	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.46624	-0.9178	9	0.72032	D	0.01	.	10.0797	0.42381	0.0:1.0:0.0:0.0	.	618	Q3MIS6	ZN528_HUMAN	C	618	ENSP00000353652:S618C	ENSP00000353652:S618C	S	+	2	0	ZNF528	57611770	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.188000	0.09642	0.842000	0.35045	0.491000	0.48974	TCT		0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		8	47	0	0	0	1	0	8	47					G	52919958	C	G	52919958	3	3	303	1	0	0	0	0	1	0	0	0	17966	913	32	4	1867	4	ZNF528	19	52919958	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	42698536	52919958	6209025	66	5342											
NFATC2	4773	broad.mit.edu	37	20	50071158	50071158	+	Silent	SNP	G	G	A	rs146686251	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:50071158G>A	ENST00000396009.3	-	6	1995	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	NFATC2_ENST00000609507.1_Silent_p.G373G|NFATC2_ENST00000414705.1_Silent_p.G572G|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000371564.3_Silent_p.G592G|NFATC2_ENST00000610033.1_Silent_p.G373G|NFATC2_ENST00000609943.1_Silent_p.G572G	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	592					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.G592G(1)	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)					TTTGCTGGCCGCCATAGACCA	0.502													G|||	3	0.000599042	8e-04	0.0014	5008	,	,		19640	0		0.001	False		,,,				2504	0					uc002xwd.3																		EWSR1/NFATC2(9)	1	Substitution - coding silent(1)	p.G592G(2)	prostate(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.(1774-1776)ggC>ggT		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.							168	169	169					20																	50071158		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.chr20:50071158G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1776C>T	20.37:g.50071158G>A			Somatic				NFATC2_uc002xwc.3_Silent_p.G592G|NFATC2_uc010zyv.2_Silent_p.G373G|NFATC2_uc010zyw.2_Silent_p.G373G|NFATC2_uc002xwe.3_Silent_p.G572G|NFATC2_uc010zyx.2_Silent_p.G572G|NFATC2_uc010zyy.2_Silent_p.G373G|NFATC2_uc010zyz.2_Silent_p.G373G|MIR3194_uc021weu.1_5'Flank	p.G592G	NM_173091	NP_775114	WXS	Illumina GAIIx	Phase_I	Q13469	NFAC2_HUMAN			5	1996	-	Hepatocellular(150;0.248)		592					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.1776C>T	CCDS13437.1																																																																																				0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	171	0	0	0	1	0	5	171					A	50071158	G	A	50071158	2	1	303	1	0	0	0	0	0	0	0	1	10362	1074	38	1		1	NFATC2	20	50071158	Silent	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08		50071158	12954362	67	5343											
C20orf197	284756	broad.mit.edu	37	20	58645884	58645884	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:58645884G>T	ENST00000313426.1	+	4	608	c.302G>T	c.(301-303)aGt>aTt	p.S101I		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	101										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			gctctgcaaagttctgcacca	0.478																																						uc002ybj.1																			0				large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(301-303)aGt>aTt		Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA.							63	62	62					20																	58645884		2203	4300	6503	SO:0001583	missense	284756							g.chr20:58645884G>T	AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.302G>T	20.37:g.58645884G>T	ENSP00000316457:p.Ser101Ile		Somatic					p.S101I	NM_173644	NP_775915	WXS	Illumina GAIIx	Phase_I	Q8N268	CT197_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.33e-09)		3	608	+			101					Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	c.302G>T	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895800	0.17686	.	.	ENSG00000176659	ENST00000313426	.	.	.	2.12	-0.0676	0.13759	.	.	.	.	.	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	P	0.51537	0.946	P	0.50934	0.654	T	0.10543	-1.0625	8	0.87932	D	0	.	3.1357	0.06438	0.1895:0.3089:0.5015:0.0	.	101	Q8N268	CT197_HUMAN	I	101	.	ENSP00000316457:S101I	S	+	2	0	C20orf197	58079279	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.153000	0.10144	0.014000	0.14944	0.491000	0.48974	AGT		0.478	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644		3	11	0	0	0	1	0	3	11					T	58645884	G	T	58645884	3	4	303	1	0	0	0	0	1	0	0	0	2102	1029	36	4	308	4	C20orf197	20	58645884	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	8574726	58645884	4379636	68	5344											
GRIK1	2897	broad.mit.edu	37	21	30961208	30961208	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:30961208T>G	ENST00000399907.1	-	11	1931	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	GRIK1_ENST00000535441.1_Missense_Mutation_p.Q509P|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q507P|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q492P|GRIK1_ENST00000399914.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q509P|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q507P	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	507					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTTGTCATTCTGGGCCCCATA	0.368																																						uc011acs.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1519-1521)cAg>cCg		Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						161	155	157					21																	30961208		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30961208T>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1520A>C	21.37:g.30961208T>G	ENSP00000382791:p.Gln507Pro		Somatic				GRIK1_uc002ynn.3_Missense_Mutation_p.Q492P|GRIK1_uc011act.2_Intron|GRIK1_uc002yno.1_Missense_Mutation_p.Q507P|GRIK1_uc010glq.1_Missense_Mutation_p.Q350P	p.Q507P	NM_000830	NP_000821	WXS	Illumina GAIIx	Phase_I	P39086	GRIK1_HUMAN			10	1984	-			507					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1520A>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191530	0.38707	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.049306	0.85682	D	0.000000	T	0.67107	0.2858	N	0.26162	0.8	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.17098	0.017;0.003;0.017;0.01	T	0.62469	-0.6848	10	0.32370	T	0.25	.	14.7296	0.69372	0.0:0.0:0.0:1.0	.	507;492;507;492	E9PD61;E7EPZ0;P39086;P39086-2	.;.;GRIK1_HUMAN;.	P	507;492;507;492;509;507;507;492;509	ENSP00000327687:Q507P;ENSP00000373777:Q492P;ENSP00000382797:Q507P;ENSP00000382798:Q492P;ENSP00000446326:Q509P;ENSP00000373776:Q507P;ENSP00000382791:Q507P;ENSP00000382793:Q492P;ENSP00000311646:Q509P	ENSP00000311646:Q509P	Q	-	2	0	GRIK1	29883079	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.080000	0.71299	2.191000	0.70037	0.528000	0.53228	CAG		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			15	78	0	0	0	1	0	15	78					G	30961208	T	G	30961208	3	3	303	1	0	0	0	0	1	0	0	0	6773	1580	55	5	1424	5	GRIK1	21	30961208	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		30961208	17168687	69	5345											
KRTAP10-5	386680	broad.mit.edu	37	21	45999968	45999968	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:45999968C>G	ENST00000400372.1	-	1	513	c.488G>C	c.(487-489)tGc>tCc	p.C163S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	163	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAGGAGGTGCAGCAAGTCGG	0.602																																						uc002zfl.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(487-489)tGc>tCc		Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.							153	157	156					21																	45999968		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999968C>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.488G>C	21.37:g.45999968C>G	ENSP00000383223:p.Cys163Ser		Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.C163S	NM_198694	NP_941967	WXS	Illumina GAIIx	Phase_I	P60370	KR105_HUMAN			0	514	-			163			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.488G>C	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	8.169	0.791356	0.16258	.	.	ENSG00000241123	ENST00000400372	T	0.05025	3.51	3.17	3.17	0.36434	.	.	.	.	.	T	0.23451	0.0567	M	0.87269	2.87	0.27865	N	0.940241	D	0.63046	0.992	D	0.63957	0.92	T	0.02698	-1.1122	9	0.49607	T	0.09	.	8.4337	0.32773	0.0:0.7577:0.2423:0.0	.	163	P60370	KR105_HUMAN	S	163	ENSP00000383223:C163S	ENSP00000383223:C163S	C	-	2	0	KRTAP10-5	44824396	0.954000	0.32549	0.655000	0.29622	0.417000	0.31264	2.058000	0.41374	1.761000	0.52028	0.455000	0.32223	TGC		0.602	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			26	163	0	0	0	1	0	26	163					G	45999968	C	G	45999968	3	3	303	1	0	0	0	0	1	0	0	0	8512	710	25	4	331	4	KRTAP10-5	21	45999968	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08	15038760	45999968	2129927	70	5346											
LZTR1	8216	broad.mit.edu	37	22	21340177	21340177	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:21340177C>G	ENST00000215739.8	+	3	670	c.311C>G	c.(310-312)tCc>tGc	p.S104C	LZTR1_ENST00000389355.3_Intron|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(310-312)tCc>tGc		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							91	70	77					22																	21340177		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21340177C>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.311C>G	22.37:g.21340177C>G	ENSP00000215739:p.Ser104Cys		Somatic				LZTR1_uc002ztn.3_Missense_Mutation_p.S63C|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	p.S104C	NM_006767	NP_006758	WXS	Illumina GAIIx	Phase_I	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	414	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	104					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.311C>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739729	0.89573	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.47528	0.84	4.52	4.52	0.55395	.	0.061156	0.64402	D	0.000002	T	0.65154	0.2664	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.65809	-0.6078	10	0.49607	T	0.09	-43.1161	15.1436	0.72630	0.0:1.0:0.0:0.0	.	104;63	Q8N653;F5GXU8	LZTR1_HUMAN;.	C	63;104	ENSP00000215739:S104C	ENSP00000215739:S104C	S	+	2	0	LZTR1	19670177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	2.516000	0.84829	0.643000	0.83706	TCC		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		6	32	0	0	0	1	0	6	32					G	21340177	C	G	21340177	3	3	303	1	0	0	0	0	1	0	0	0	9137	855	30	4	321	4	LZTR1	22	21340177	Missense_Mutation	SNP	C	TCGA-ET-A2MY-01A-11D-A18F-08		21340177	29964389	71	5347											
PLCXD1	55344	broad.mit.edu	37	X	209756	209756	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:209756T>C	ENST00000381657.2	+	6	1118	c.604T>C	c.(604-606)Tat>Cat	p.Y202H	PLCXD1_ENST00000381663.3_Missense_Mutation_p.Y202H|PLCXD1_ENST00000399012.1_Missense_Mutation_p.Y202H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	202	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	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)				CATCGTCTCCTATGAAGACGA	0.632																																						uc004cpc.3																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(604-606)Tat>Cat		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.							75	72	73					X																	209756		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:209756T>C	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.604T>C	X.37:g.209756T>C	ENSP00000371073:p.Tyr202His		Somatic				PLCXD1_uc011mgx.2_Non-coding_Transcript	p.Y202H	NM_018390	NP_060860	WXS	Illumina GAIIx	Phase_I	Q9NUJ7	PLCX1_HUMAN			5	916	+		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)	202			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.604T>C	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.398934	0.25291	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.28895	1.59;1.59;1.59	1.26	1.26	0.21427	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12319	-1.0552	9	0.42905	T	0.14	-31.0036	6.2892	0.21051	0.0:0.0:0.0:1.0	.	202	Q9NUJ7	PLCX1_HUMAN	H	202	ENSP00000381976:Y202H;ENSP00000371073:Y202H;ENSP00000371079:Y202H	ENSP00000371073:Y202H	Y	+	1	0	PLCXD1	149756	1.000000	0.71417	0.053000	0.19242	0.082000	0.17680	4.741000	0.62095	0.552000	0.29026	0.320000	0.21374	TAT		0.632	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		3	49	0	0	0	1	0	3	49					C	209756	T	C	209756	3	2	303	1	0	0	0	0	1	0	0	0	12041	1522	53	3	622	3	PLCXD1	23	209756	Missense_Mutation	SNP	T	TCGA-ET-A2MY-01A-11D-A18F-08		209756	155060804	72	5348											
DOCK11	139818	broad.mit.edu	37	X	117819739	117819739	+	Missense_Mutation	SNP	G	G	A	rs376064945		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:117819739G>A	ENST00000276202.7	+	53	6254	c.6191G>A	c.(6190-6192)gGt>gAt	p.G2064D	DOCK11_ENST00000276204.6_Missense_Mutation_p.G2068D	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2064					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGTGACCGAGGTTATGGTTCC	0.403																																						uc004eqp.2																			0		p.R2063Q(1)|p.R2063R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(6190-6192)gGt>gAt		Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.		G	ASP/GLY	1,3834		0,0,1,1632,570	210	176	187		6191	6.2	1.0	X		187	0,6728		0,0,0,2428,1872	no	missense	DOCK11	NM_144658.3	94	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	2064/2074	117819739	1,10562	2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117819739G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6191G>A	X.37:g.117819739G>A	ENSP00000276202:p.Gly2064Asp		Somatic				DOCK11_uc004eqq.2_Missense_Mutation_p.G1843D	p.G2064D	NM_144658	NP_653259	WXS	Illumina GAIIx	Phase_I	Q5JSL3	DOC11_HUMAN			52	6254	+			2064					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.6191G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617684	0.46736	2.61E-4	0.0	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17370	2.28;2.28	6.17	6.17	0.99709	.	0.319538	0.31495	N	0.007553	T	0.12860	0.0312	L	0.36672	1.1	0.32589	N	0.527445	B;B	0.31125	0.309;0.309	B;B	0.22386	0.026;0.039	T	0.14896	-1.0456	10	0.15499	T	0.54	-21.7584	13.5363	0.61648	0.0:0.0:0.8448:0.1552	.	2068;2064	A6NIW2;Q5JSL3	.;DOC11_HUMAN	D	2068;2064	ENSP00000276204:G2068D;ENSP00000276202:G2064D	ENSP00000276202:G2064D	G	+	2	0	DOCK11	117703767	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.726000	0.61986	2.618000	0.88619	0.600000	0.82982	GGT		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		71	89	0	0	0	1	0	71	89					A	117819739	G	A	117819739	3	1	303	1	0	0	0	0	1	0	0	0	4686	1261	44	2	6401	2	DOCK11	23	117819739	Missense_Mutation	SNP	G	TCGA-ET-A2MY-01A-11D-A18F-08	117609983	117819739	37450821	73	5349											
HAAO	23498	broad.mit.edu	37	2	43010952	43010952	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr2:43010952T>A	ENST00000294973.6	-	3	270	c.215A>T	c.(214-216)cAc>cTc	p.H72L		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase											breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CACATCCCGGTGTTTCCCTTG	0.602																																						uc002rst.4																			0				breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						c.(214-216)cAc>cTc		Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA.							71	56	61					2																	43010952		2203	4300	6503	SO:0001583	missense	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:43010952T>A	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.215A>T	2.37:g.43010952T>A	ENSP00000294973:p.His72Leu		Somatic				HAAO_uc010ynw.1_Missense_Mutation_p.H72L	p.H72L	NM_012205	NP_036337	WXS	Illumina GAIIx	Phase_I	P46952	3HAO_HUMAN			2	290	-			72			Domain A (catalytic) (By similarity).			Missense_Mutation	SNP	ENST00000294973.6	37	c.215A>T	CCDS33187.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.638966	0.29157	.	.	ENSG00000162882	ENST00000294973;ENST00000431905	T;T	0.27402	1.67;1.67	4.68	3.5	0.40072	Cupin, RmlC-type (1);	0.061957	0.64402	D	0.000005	T	0.23370	0.0565	M	0.66939	2.045	0.54753	D	0.999986	P	0.39443	0.674	B	0.33568	0.166	T	0.03335	-1.1047	10	0.11485	T	0.65	.	7.0642	0.25143	0.0:0.1044:0.0:0.8956	.	72	P46952	3HAO_HUMAN	L	72;38	ENSP00000294973:H72L;ENSP00000412601:H38L	ENSP00000294973:H72L	H	-	2	0	HAAO	42864456	1.000000	0.71417	0.992000	0.48379	0.883000	0.51084	3.431000	0.52814	1.985000	0.57927	0.374000	0.22700	CAC		0.602	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2			7	12	0	0	0	1	0	7	12					A	43010952	T	A	43010952	3	1	304	1	0	0	0	0	1	0	0	0	6937	1696	59	5	677	5	HAAO	2	43010952	Missense_Mutation	SNP	T	TCGA-ET-A2MZ-01A-12D-A19J-08		43010952	200188421	1	5350											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	60	0	0	0	1	0	38	60					T	140453136	A	T	140453136	3	4	304	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2MZ-01A-12D-A19J-08		140453136	18685527	2	5351											
GPR124	25960	broad.mit.edu	37	8	37693173	37693173	+	Silent	SNP	G	G	A			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr8:37693173G>A	ENST00000412232.2	+	13	1948	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	645					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)			CCCTGCAACTGCTCGTCTTCC	0.682																																						uc003xkj.3																			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.(1933-1935)ctG>ctA		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.							77	85	82					8																	37693173		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:37693173G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1935G>A	8.37:g.37693173G>A			Somatic				GPR124_uc010lvy.3_Intron	p.L645L	NM_032777	NP_116166	WXS	Illumina GAIIx	Phase_I	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	2321	+			645					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1935G>A	CCDS6097.2																																																																																				0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			30	81	0	0	0	1	0	30	81					A	37693173	G	A	37693173	2	1	304	1	0	0	0	0	0	0	0	1	6638	1306	46	2		2	GPR124	8	37693173	Silent	SNP	G	TCGA-ET-A2MZ-01A-12D-A19J-08		37693173	108670849	3	5352											
BTBD12	84464	broad.mit.edu	37	16	3642722	3642722	+	Missense_Mutation	SNP	C	C	G	rs150712805	byFrequency	TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr16:3642722C>G	ENST00000294008.3	-	11	2945	c.2305G>C	c.(2305-2307)Gag>Cag	p.E769Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	769	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GAGCTCAGCTCAGAGCTAAGG	0.597								Direct reversal of damage					C|||	2	0.000399361	0	0	5008	,	,		17939	0		0.002	False		,,,				2504	0					uc002cvp.2																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2305-2307)Gag>Cag	Direct reversal of damage	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.		C	GLN/GLU	2,4392	4.2+/-10.8	0,2,2195	52	48	49		2305	4.6	0.1	16	dbSNP_134	49	17,8583	12.6+/-44.7	0,17,4283	yes	missense	SLX4	NM_032444.2	29	0,19,6478	GG,GC,CC		0.1977,0.0455,0.1462	possibly-damaging	769/1835	3642722	19,12975	2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3642722C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2305G>C	16.37:g.3642722C>G	ENSP00000294008:p.Glu769Gln		Somatic					p.E769Q	NM_032444	NP_115820	WXS	Illumina GAIIx	Phase_I	Q8IY92	SLX4_HUMAN			10	2932	-			769			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2305G>C	CCDS10506.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.33	1.606733	0.28623	4.55E-4	0.001977	ENSG00000188827	ENST00000294008	T	0.24350	1.86	5.61	4.64	0.57946	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.660452	0.14884	N	0.292772	T	0.16854	0.0405	N	0.24115	0.695	0.09310	N	1	B	0.22146	0.065	B	0.25405	0.06	T	0.22103	-1.0226	10	0.26408	T	0.33	.	7.7704	0.29004	0.0:0.6444:0.2657:0.0899	.	769	Q8IY92	SLX4_HUMAN	Q	769	ENSP00000294008:E769Q	ENSP00000294008:E769Q	E	-	1	0	SLX4	3582723	0.001000	0.12720	0.056000	0.19401	0.416000	0.31233	0.965000	0.29319	1.324000	0.45282	0.655000	0.94253	GAG		0.597	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		3	23	0	0	0	1	0	3	23					G	3642722	C	G	3642722	3	3	304	1	0	0	0	0	1	0	0	0	1540	835	29	4	3219	4	BTBD12	16	3642722	Missense_Mutation	SNP	C	TCGA-ET-A2MZ-01A-12D-A19J-08		3642722	86712031	4	5353											
ZNF254	9534	broad.mit.edu	37	19	24288767	24288767	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MZ-01A-12D-A19J-08	TCGA-ET-A2MZ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654b03aa-d212-4e95-ac1b-a0208691cb0e	85072b72-45e1-451a-9caf-7fb88b4f3cd7	g.chr19:24288767C>T	ENST00000357002.4	+	2	171	c.56C>T	c.(55-57)gCc>gTc	p.A19V	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.A19V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGGGATGTGGCCATAGAATTC	0.408																																						uc002nru.3																			0											c.(55-57)gCc>gTc		Homo sapiens zinc finger protein 254 (ZNF254), mRNA.							106	117	113					19																	24288767		2203	4300	6503	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24288767C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.56C>T	19.37:g.24288767C>T	ENSP00000349494:p.Ala19Val		Somatic				ZNF254_uc010xrk.2_Intron|ZNF254_uc002nrt.1_Non-coding_Transcript	p.A19V	NM_203282	NP_975011	WXS	Illumina GAIIx	Phase_I	O75437	ZN254_HUMAN			1	190	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	19			KRAB.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.56C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202850	0.38905	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.03301	3.98;3.98	0.225	0.225	0.15325	Krueppel-associated box (4);	.	.	.	.	T	0.10981	0.0268	M	0.78049	2.395	0.45250	D	0.998256	P	0.41214	0.742	P	0.51453	0.67	T	0.04840	-1.0923	8	0.59425	D	0.04	.	.	.	.	.	19	O75437	ZN254_HUMAN	V	19	ENSP00000349494:A19V;ENSP00000341573:A19V	ENSP00000341573:A19V	A	+	2	0	ZNF254	24080607	0.916000	0.31088	0.723000	0.30687	0.729000	0.41735	1.678000	0.37586	0.300000	0.22699	0.305000	0.20034	GCC		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		64	121	0	0	0	1	0	64	121					T	24288767	C	T	24288767	3	4	304	1	0	0	0	0	1	0	0	0	17795	739	26	2	62	2	ZNF254	19	24288767	Missense_Mutation	SNP	C	TCGA-ET-A2MZ-01A-12D-A19J-08		24288767	34840216	5	5354											
CACHD1	57685	broad.mit.edu	37	1	65119491	65119491	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:65119491C>G	ENST00000371073.2	+	11	1591	c.1591C>G	c.(1591-1593)Ccc>Gcc	p.P531A	CACHD1_ENST00000290039.5_Missense_Mutation_p.P480A|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	531	Cache 1.				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						ATTGTCAGAGCCCCCACTTCA	0.353																																						uc001dbo.1																			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.(1438-1440)Ccc>Gcc		Homo sapiens cache domain containing 1 (CACHD1), mRNA.							185	179	181					1																	65119491		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65119491C>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1591C>G	1.37:g.65119491C>G	ENSP00000360113:p.Pro531Ala		Somatic				CACHD1_uc001dbp.1_Missense_Mutation_p.P235A|CACHD1_uc001dbq.1_Missense_Mutation_p.P235A	p.P480A	NM_020925	NP_065976	WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			10	1543	+			531			Cache 1.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1438C>G		.	.	.	.	.	.	.	.	.	.	C	9.711	1.157144	0.21454	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21734	1.99;2.0	5.45	4.54	0.55810	.	0.048889	0.85682	D	0.000000	T	0.04363	0.0120	N	0.08118	0	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.22382	-1.0218	10	0.12103	T	0.63	-25.0719	16.5409	0.84384	0.0:0.8695:0.1305:0.0	.	531	Q5VU97	CAHD1_HUMAN	A	531;480	ENSP00000360113:P531A;ENSP00000290039:P480A	ENSP00000290039:P480A	P	+	1	0	CACHD1	64892079	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	4.365000	0.59486	1.534000	0.49203	-0.156000	0.13503	CCC		0.353	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		40	101	0	0	0	1	0	40	101					G	65119491	C	G	65119491	3	3	305	1	0	0	0	0	1	0	0	0	2537	739	26	4	1480	4	CACHD1	1	65119491	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08		65119491	184131130	1	5355											
SLAMF8	56833	broad.mit.edu	37	1	159799720	159799720	+	Silent	SNP	G	G	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr1:159799720G>T	ENST00000289707.5	+	2	254	c.105G>T	c.(103-105)ctG>ctT	p.L35L	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	35					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CGGTGCTGCTGGTGGCAGCGC	0.612																																						uc001fue.4																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(103-105)ctG>ctT		Homo sapiens SLAM family member 8 (SLAMF8), mRNA.							102	114	110					1																	159799720		2203	4300	6503	SO:0001819	synonymous_variant	56833					integral to membrane		g.chr1:159799720G>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.105G>T	1.37:g.159799720G>T			Somatic					p.L35L	NM_020125	NP_064510	WXS	Illumina GAIIx	Phase_I	Q9P0V8	SLAF8_HUMAN			1	315	+	all_hematologic(112;0.0597)		35					Q32MC6|Q5VU15	Silent	SNP	ENST00000289707.5	37	c.105G>T	CCDS1188.1																																																																																				0.612	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		42	95	0	0	0	1	0	42	95					T	159799720	G	T	159799720	2	4	305	1	0	0	0	0	0	0	0	1	14370	1335	47	4		4	SLAMF8	1	159799720	Silent	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08	94680229	159799720	89450901	2	5356											
FAM194A	131831	broad.mit.edu	37	3	150398571	150398571	+	Silent	SNP	T	T	C			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr3:150398571T>C	ENST00000295910.6	-	8	1081	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	FAM194A_ENST00000491361.1_Silent_p.K197K	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTGCAGGGCTTTTTCTTTTG	0.413																																						uc003eyg.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1027-1029)aaA>aaG		Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.							149	146	147					3																	150398571		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150398571T>C																												ENST00000295910.6:c.1029A>G	3.37:g.150398571T>C			Somatic				FAM194A_uc003eyh.3_Silent_p.K197K	p.K343K	NM_152394	NP_689607	WXS	Illumina GAIIx	Phase_I	Q7L0X2	F194A_HUMAN			7	1086	-			343						Silent	SNP	ENST00000295910.6	37	c.1029A>G	CCDS3151.2																																																																																				0.413	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			3	87	0	0	0	1	0	3	87					C	150398571	T	C	150398571	2	2	305	1	0	0	0	0	0	0	0	1	5526	1606	56	3		3	FAM194A	3	150398571	Silent	SNP	T	TCGA-ET-A2N0-01A-11D-A18F-08		150398571	47623859	3	5357											
BOD1L	259282	broad.mit.edu	37	4	13601157	13601157	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr4:13601157A>G	ENST00000040738.5	-	10	7502	c.7367T>C	c.(7366-7368)cTc>cCc	p.L2456P		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2456						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCATTTATGAGGTGTAAAGT	0.468											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003gmz.1																			0											c.(7366-7368)cTc>cCc		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							164	147	153					4																	13601157		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601157A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7367T>C	4.37:g.13601157A>G	ENSP00000040738:p.Leu2456Pro		Somatic	OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	BOD1L1_uc010idr.1_Missense_Mutation_p.L1793P	p.L2456P	NM_148894	NP_683692	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			9	7484	-			2456					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7367T>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120234	0.37436	.	.	ENSG00000038219	ENST00000040738	T	0.09350	2.99	4.17	-0.642	0.11486	.	0.433636	0.16546	N	0.209707	T	0.06781	0.0173	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.30937	-0.9961	10	0.40728	T	0.16	.	8.0002	0.30293	0.597:0.0:0.403:0.0	.	2456	Q8NFC6	BOD1L_HUMAN	P	2456	ENSP00000040738:L2456P	ENSP00000040738:L2456P	L	-	2	0	BOD1L	13210255	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.222000	0.17699	-0.013000	0.14199	0.454000	0.30748	CTC		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	78	0	0	0	1	0	3	78					G	13601157	A	G	13601157	3	3	305	1	0	0	0	0	1	0	0	0	1483	304	11	3	1856	3	BOD1L	4	13601157	Missense_Mutation	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		13601157	177553119	4	5358											
TACR3	6870	broad.mit.edu	37	4	104640780	104640780	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr4:104640780C>A	ENST00000304883.2	-	1	193	c.53G>T	c.(52-54)gGt>gTt	p.G18V		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	18					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCGTCTGCACCCACGCCTCC	0.687																																						uc003hxe.1																			0		p.G18S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(52-54)gGt>gTt		Homo sapiens tachykinin receptor 3 (TACR3), mRNA.							37	43	41					4																	104640780		2202	4297	6499	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640780C>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.53G>T	4.37:g.104640780C>A	ENSP00000303325:p.Gly18Val		Somatic					p.G18V	NM_001059	NP_001050	WXS	Illumina GAIIx	Phase_I	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	0	194	-		Hepatocellular(203;0.217)	18					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.53G>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034992	0.35893	.	.	ENSG00000169836	ENST00000304883	T	0.64803	-0.12	3.79	0.907	0.19321	.	2.348000	0.02229	N	0.064766	T	0.48732	0.1516	L	0.29908	0.895	0.09310	N	0.999993	B	0.24186	0.099	B	0.14023	0.01	T	0.41466	-0.9507	10	0.54805	T	0.06	.	3.8531	0.08963	0.1615:0.5794:0.1583:0.1008	.	18	P29371	NK3R_HUMAN	V	18	ENSP00000303325:G18V	ENSP00000303325:G18V	G	-	2	0	TACR3	104860229	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	0.418000	0.21230	0.790000	0.33803	0.313000	0.20887	GGT		0.687	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		13	21	0	0	0	1	0	13	21					A	104640780	C	A	104640780	3	1	305	1	0	0	0	0	1	0	0	0	15504	507	18	4	1364	4	TACR3	4	104640780	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08	91039623	104640780	86513496	5	5359											
TIFAB	140947	broad.mit.edu	37	5	134785451	134785451	+	5'Flank	SNP	A	A	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr5:134785451A>G	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.L60P|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAGGGCTCCAGGGACAGGTG	0.667																																						uc003law.4																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(178-180)cTg>cCg		Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.							41	47	45					5																	134785451		2101	4230	6331	SO:0001631	upstream_gene_variant	497189							g.chr5:134785451A>G																													5.37:g.134785451A>G	Exception_encountered		Somatic				C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.L60P	p.L60P	NM_001099221	NP_001092691	WXS	Illumina GAIIx	Phase_I	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	380	-			60			FHA.			Missense_Mutation	SNP	ENST00000503143.2	37	c.179T>C	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736423	0.69189	.	.	ENSG00000255833	ENST00000537858	D	0.90385	-2.66	4.91	4.91	0.64330	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.237373	0.27080	U	0.021036	D	0.93923	0.8055	M	0.68952	2.095	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.94189	0.7439	10	0.87932	D	0	.	11.2171	0.48833	1.0:0.0:0.0:0.0	.	60	Q6ZNK6	TIFAB_HUMAN	P	60	ENSP00000440509:L60P	ENSP00000440509:L60P	L	-	2	0	TIFAB	134813350	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.126000	0.42026	1.964000	0.57103	0.460000	0.39030	CTG		0.667	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			3	70	0	0	0	1	0	3	70					G	134785451	A	G	134785451	1	3	305	0	1	0	0	0	0	0	0	0	15892	188	7	3		3	TIFAB	5	134785451	5'Flank	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		134785451	46129809	6	5360											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	36	0	0	0	1	0	22	36					T	140453136	A	T	140453136	3	4	305	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		140453136	18685527	7	5361											
OR51G1	79324	broad.mit.edu	37	11	4945145	4945145	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:4945145C>T	ENST00000321961.2	-	1	492	c.425G>A	c.(424-426)tGt>tAt	p.C142Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	142						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(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGACAATACATGCAGGTGT	0.522																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(424-426)tGt>tAt		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.							102	87	92					11																	4945145		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945145C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.425G>A	11.37:g.4945145C>T	ENSP00000322546:p.Cys142Tyr		Somatic					p.C142Y	NM_001005237	NP_001005237	WXS	Illumina GAIIx	Phase_I	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	425	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	142					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.425G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.627472	0.00115	.	.	ENSG00000176879	ENST00000321961	T	0.35789	1.29	4.2	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.209781	0.21819	U	0.068649	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.29440	0.102	T	0.23868	-1.0176	10	0.32370	T	0.25	.	10.0396	0.42151	0.1376:0.779:0.0:0.0834	.	142	Q8NGK1	O51G1_HUMAN	Y	142	ENSP00000322546:C142Y	ENSP00000322546:C142Y	C	-	2	0	OR51G1	4901721	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.340000	0.07821	0.065000	0.16485	-1.151000	0.01829	TGT		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		15	30	0	0	0	1	0	15	30					T	4945145	C	T	4945145	3	4	305	1	0	0	0	0	1	0	0	0	11098	478	17	2	542	2	OR51G1	11	4945145	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08		4945145	130061371	8	5362											
IGSF9B	22997	broad.mit.edu	37	11	133790942	133790942	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr11:133790942T>C	ENST00000321016.8	-	18	2908	c.2678A>G	c.(2677-2679)gAc>gGc	p.D893G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D893G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	893					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)		GTTCTCCTCGTCCGACTGGCG	0.647																																						uc001qgx.4																			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.(2677-2679)gAc>gGc		Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.							74	89	84					11																	133790942		2119	4207	6326	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790942T>C	AK097578	CCDS61010.1	11q25	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"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2678A>G	11.37:g.133790942T>C	ENSP00000317980:p.Asp893Gly		Somatic					p.D893G	NM_014987	NP_055802	WXS	Illumina GAIIx	Phase_I	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)	17	2909	-	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)	893					G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2678A>G		.	.	.	.	.	.	.	.	.	.	T	20.7	4.030454	0.75504	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71934	-0.29;-0.61	4.62	4.62	0.57501	.	0.000000	0.46145	D	0.000303	T	0.79263	0.4416	L	0.51422	1.61	0.53688	D	0.999971	D	0.63880	0.993	D	0.72338	0.977	T	0.80269	-0.1453	10	0.52906	T	0.07	.	13.8645	0.63581	0.0:0.0:0.0:1.0	.	893	Q9UPX0	TUTLB_HUMAN	G	893;735	ENSP00000317980:D893G;ENSP00000436552:D735G	ENSP00000317980:D893G	D	-	2	0	IGSF9B	133296152	1.000000	0.71417	0.795000	0.32087	0.994000	0.84299	7.468000	0.80943	1.943000	0.56356	0.459000	0.35465	GAC		0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		25	50	0	0	0	1	0	25	50					C	133790942	T	C	133790942	3	2	305	1	0	0	0	0	1	0	0	0	7606	1667	58	3	1379	3	IGSF9B	11	133790942	Missense_Mutation	SNP	T	TCGA-ET-A2N0-01A-11D-A18F-08	128845797	133790942	1215574	9	5363											
PIK3R5	23533	broad.mit.edu	37	17	8792478	8792479	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:8792478_8792479insT	ENST00000447110.1	-	9	996_997	c.872_873insA	c.(871-873)tacfs	p.Y291fs	PIK3R5_ENST00000581552.1_Frame_Shift_Ins_p.Y291fs|PIK3R5_ENST00000584803.1_Frame_Shift_Ins_p.Y291fs	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	291				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	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						GGCTCCAGCTGTAGGTGTAGCA	0.594																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.3																			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.(871-873)tacfs		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792478_8792479insT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.873dupA	17.37:g.8792479_8792479dupT	ENSP00000392812:p.Tyr291fs		Somatic				PIK3R5_uc010vuz.2_Frame_Shift_Ins_p.Y291fs|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	p.Y291fs	NM_014308	NP_001238784	WXS	Illumina GAIIx	Phase_I	Q8WYR1	PI3R5_HUMAN			8	939_940	-			291	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Frame_Shift_Ins	INS	ENST00000447110.1	37	c.872_873insA	CCDS11147.1																																																																																				0.594	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		11	17						11	17	---	---	---	---	T	8792479	-	T	8792478	7	5	305	1	0	1	1	0	0	0	0	0	11922	1372	48	0	1813	0	PIK3R5	17	8792478	Frame_Shift_Ins	INS	-	TCGA-ET-A2N0-01A-11D-A18F-08		8792478	72402732	10	5364											
GOSR2	9570	broad.mit.edu	37	17	45016025	45016025	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr17:45016025C>T	ENST00000393456.2	+	6	595	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W|GOSR2_ENST00000576910.2_Missense_Mutation_p.R133W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	180					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CACAGTGATGCGGCTCATCGA	0.493																																						uc010wkh.1																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(538-540)Cgg>Tgg		Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant A, mRNA.							277	241	253					17																	45016025		2203	4300	6503	SO:0001583	missense	9570				ER to Golgi vesicle-mediated transport|cellular membrane fusion|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45016025C>T	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.538C>T	17.37:g.45016025C>T	ENSP00000377101:p.Arg180Trp		Somatic				GOSR2_uc002ikz.3_Missense_Mutation_p.R180W|GOSR2_uc002ila.3_Missense_Mutation_p.R180W	p.R180W	NM_004287	NP_004278	WXS	Illumina GAIIx	Phase_I	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	611	+			180					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.538C>T	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898222	0.72639	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000439730	T;T;T	0.79352	-1.26;-1.26;-1.26	4.84	1.52	0.23074	.	0.000000	0.85682	D	0.000000	D	0.89588	0.6758	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.90816	0.4705	10	0.87932	D	0	-8.7805	13.6926	0.62556	0.4145:0.5855:0.0:0.0	.	180;180;180	E7EQ34;O14653;O14653-2	.;GOSR2_HUMAN;.	W	180	ENSP00000225567:R180W;ENSP00000377101:R180W;ENSP00000390577:R180W	ENSP00000225567:R180W	R	+	1	2	GOSR2	42371024	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.349000	0.33998	0.262000	0.21774	0.655000	0.94253	CGG		0.493	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			6	203	0	0	0	1	0	6	203					T	45016025	C	T	45016025	3	4	305	1	0	0	0	0	1	0	0	0	6578	759	27	1	671	1	GOSR2	17	45016025	Missense_Mutation	SNP	C	TCGA-ET-A2N0-01A-11D-A18F-08	36223547	45016025	36179185	11	5365											
NDUFV2	4729	broad.mit.edu	37	18	9126840	9126840	+	Silent	SNP	A	A	G			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr18:9126840A>G	ENST00000318388.6	+	7	705	c.591A>G	c.(589-591)acA>acG	p.T197T	RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Silent_p.T200T	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	197					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						AGGATTTGACAGCTAAGGATA	0.333																																						uc002knu.3																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(589-591)acA>acG		Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						98	116	110					18																	9126840		2203	4299	6502	SO:0001819	synonymous_variant	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding	g.chr18:9126840A>G	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.591A>G	18.37:g.9126840A>G			Somatic					p.T197T	NM_021074	NP_066552	WXS	Illumina GAIIx	Phase_I	P19404	NDUV2_HUMAN			6	705	+			197					Q9BV41	Silent	SNP	ENST00000318388.6	37	c.591A>G	CCDS11842.1																																																																																				0.333	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		7	145	0	0	0	1	0	7	145					G	9126840	A	G	9126840	2	3	305	1	0	0	0	0	0	0	0	1	10300	175	7	3		3	NDUFV2	18	9126840	Silent	SNP	A	TCGA-ET-A2N0-01A-11D-A18F-08		9126840	68950408	12	5366											
CHGB	1114	broad.mit.edu	37	20	5904106	5904106	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chr20:5904106G>T	ENST00000378961.4	+	4	1520	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	439						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGAGAAAAGGTTCTTGGGT	0.547																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1315-1317)aGg>aTg		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							94	94	94					20																	5904106		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904106G>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1316G>T	20.37:g.5904106G>T	ENSP00000368244:p.Arg439Met		Somatic				CHGB_uc010zqz.2_Missense_Mutation_p.R122M	p.R439M	NM_001819	NP_001810	WXS	Illumina GAIIx	Phase_I	P05060	SCG1_HUMAN			3	1622	+			439					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1316G>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160415	0.57368	.	.	ENSG00000089199	ENST00000378961	T	0.01933	4.55	5.78	3.85	0.44370	.	0.267267	0.31847	N	0.006976	T	0.07593	0.0191	M	0.64997	1.995	0.22610	N	0.998936	D	0.76494	0.999	P	0.62649	0.905	T	0.05869	-1.0859	10	0.87932	D	0	-8.1577	7.8708	0.29565	0.2994:0.0:0.7006:0.0	.	439	P05060	SCG1_HUMAN	M	439	ENSP00000368244:R439M	ENSP00000368244:R439M	R	+	2	0	CHGB	5852106	0.082000	0.21442	0.975000	0.42487	0.484000	0.33280	0.762000	0.26503	1.442000	0.47568	0.655000	0.94253	AGG		0.547	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		31	47	0	0	0	1	0	31	47					T	5904106	G	T	5904106	3	4	305	1	0	0	0	0	1	0	0	0	3339	1000	35	4	1330	4	CHGB	20	5904106	Missense_Mutation	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08		5904106	57121414	13	5367											
F8	2157	broad.mit.edu	37	X	154250785	154250785	+	Nonsense_Mutation	SNP	G	G	A	rs387906432		TCGA-ET-A2N0-01A-11D-A18F-08	TCGA-ET-A2N0-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a387cf69-7d0a-4a67-a17b-ea3f5260c8a3	c1e30374-fab3-4fd7-82cf-f02698811b91	g.chrX:154250785G>A	ENST00000360256.4	-	1	243	c.43C>T	c.(43-45)Cga>Tga	p.R15*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	15					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCAGAATCGCAAAAGGCAC	0.443																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM900085	F8	M		c.(43-45)Cga>Tga		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						178	150	160					X																	154250785		2203	4300	6503	SO:0001587	stop_gained	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154250785G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.43C>T	X.37:g.154250785G>A	ENSP00000353393:p.Arg15*		Somatic				F8_uc011mzx.1_Intron	p.R15*	NM_000132	NP_000123	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			0	214	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)		15					Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	c.43C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768332	0.90020	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.18	-1.39	0.08997	.	3.009880	0.00702	N	0.000789	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	2.6923	13.2078	0.59807	0.0:0.0:0.2232:0.7768	.	.	.	.	X	15	.	ENSP00000353393:R15X	R	-	1	2	F8	153903979	0.001000	0.12720	0.000000	0.03702	0.359000	0.29487	0.445000	0.21677	-0.140000	0.11394	0.529000	0.55759	CGA		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	112	0	0	0	1	0	4	112					A	154250785	G	A	154250785	4	1	305	1	0	0	0	0	0	1	0	0	5350	1095	38	1	7144	1	F8	23	154250785	Nonsense_Mutation	SNP	G	TCGA-ET-A2N0-01A-11D-A18F-08		154250785	1019775	14	5368											
SLCO6A1	133482	broad.mit.edu	37	5	101726729	101726729	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr5:101726729C>T	ENST00000506729.1	-	11	2006	c.1835G>A	c.(1834-1836)cGt>cAt	p.R612H	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R550H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R359H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R359H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R612H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	612						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCCAGAGAACGCAGTTTGTC	0.328																																						uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1834-1836)cGt>cAt		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							120	117	118					5																	101726729		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101726729C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1835G>A	5.37:g.101726729C>T	ENSP00000421339:p.Arg612His		Somatic				SLCO6A1_uc003kno.3_Missense_Mutation_p.R359H|SLCO6A1_uc003knp.3_Missense_Mutation_p.R612H|SLCO6A1_uc003knq.3_Missense_Mutation_p.R550H	p.R612H	NM_173488	NP_775759	WXS	Illumina GAIIx	Phase_I	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	2007	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	612					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1835G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	6.306	0.424574	0.11928	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.9	-0.118	0.13547	Major facilitator superfamily domain, general substrate transporter (1);	0.394210	0.22648	N	0.057364	T	0.36138	0.0956	L	0.52364	1.645	0.09310	N	1	B;P;B	0.39116	0.208;0.66;0.295	B;B;B	0.40602	0.024;0.334;0.061	T	0.17048	-1.0382	10	0.42905	T	0.14	.	3.777	0.08665	0.0:0.3445:0.1917:0.4638	.	550;359;612	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	H	612;612;550;359;359	ENSP00000421339:R612H;ENSP00000369135:R612H;ENSP00000373671:R550H;ENSP00000421990:R359H;ENSP00000369138:R359H	ENSP00000369135:R612H	R	-	2	0	SLCO6A1	101754628	0.043000	0.20138	0.001000	0.08648	0.478000	0.33099	0.236000	0.17967	0.069000	0.16605	0.655000	0.94253	CGT		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		36	66	0	0	0	1	0	36	66					T	101726729	C	T	101726729	3	4	306	1	0	0	0	0	1	0	0	0	14732	536	19	1	336	1	SLCO6A1	5	101726729	Missense_Mutation	SNP	C	TCGA-ET-A2N1-01A-11D-A18F-08		101726729	79188531	1	5369											
ZNF33B	7582	broad.mit.edu	37	10	43088158	43088158	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:43088158T>C	ENST00000359467.3	-	5	2354	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	747					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(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCATAGGGCTTTTCCCCTGT	0.373																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2239-2241)aAg>aGg		Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.							153	148	149					10																	43088158		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088158T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2240A>G	10.37:g.43088158T>C	ENSP00000352444:p.Lys747Arg		Somatic				ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.K635R|ZNF33B_uc001jad.3_Intron	p.K747R	NM_006955	NP_008886	WXS	Illumina GAIIx	Phase_I	Q06732	ZN33B_HUMAN			4	2355	-			747					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2240A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.319978	0.41096	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.64	2.64	0.31445	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003076	T	0.23611	0.0571	N	0.20574	0.59	0.25257	N	0.989621	B	0.28605	0.217	B	0.43950	0.437	T	0.29305	-1.0016	10	0.56958	D	0.05	.	9.1471	0.36939	0.0:0.0:0.0:1.0	.	747	Q06732	ZN33B_HUMAN	R	747;713	ENSP00000352444:K747R	ENSP00000352444:K747R	K	-	2	0	ZNF33B	42408164	0.102000	0.21896	1.000000	0.80357	0.855000	0.48748	0.185000	0.16958	1.470000	0.48102	0.336000	0.21669	AAG		0.373	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		3	100	0	0	0	1	0	3	100					C	43088158	T	C	43088158	3	2	306	1	0	0	0	0	1	0	0	0	17852	1609	56	3	100	3	ZNF33B	10	43088158	Missense_Mutation	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		43088158	92446589	2	5370											
TBC1D12	23232	broad.mit.edu	37	10	96163149	96163149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr10:96163149delC	ENST00000225235.4	+	1	889	c.779delC	c.(778-780)gcgfs	p.A260fs		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	260							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AATGGGGGTGCGGAGCCGCGC	0.701																																						uc001kjr.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(778-780)gcgfs		Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.							6	9	8					10																	96163149		1731	3835	5566	SO:0001589	frameshift_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96163149delC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.779delC	10.37:g.96163149delC	ENSP00000225235:p.Ala260fs		Somatic					p.A260fs	NM_015188	NP_056003	WXS	Illumina GAIIx	Phase_I	O60347	TBC12_HUMAN			0	964	+		Colorectal(252;0.0429)	260					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Frame_Shift_Del	DEL	ENST00000225235.4	37	c.779delC	CCDS41553.1																																																																																				0.701	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			2	4						2	4	---	---	---	---	-	96163149	C	-	96163149	7	5	306	1	0	1	0	1	0	0	0	0	15598	768	27	0	781	0	TBC1D12	10	96163149	Frame_Shift_Del	DEL	C	TCGA-ET-A2N1-01A-11D-A18F-08	53074991	96163149	39371598	3	5371											
DDX23	9416	broad.mit.edu	37	12	49230719	49230719	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:49230719A>G	ENST00000308025.3	-	9	1047	c.968T>C	c.(967-969)cTa>cCa	p.L323P	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	323					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|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)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTCCATTAGGTCTCCATA	0.532																																						uc001rsm.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(967-969)cTa>cCa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.							302	312	309					12																	49230719		2203	4300	6503	SO:0001583	missense	9416					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230719A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.968T>C	12.37:g.49230719A>G	ENSP00000310723:p.Leu323Pro		Somatic					p.L323P	NM_004818	NP_004809	WXS	Illumina GAIIx	Phase_I	Q9BUQ8	DDX23_HUMAN			8	1059	-			323					B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.968T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051342	0.75960	.	.	ENSG00000174243	ENST00000308025	T	0.24908	1.83	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.46425	0.1392	M	0.64170	1.965	0.80722	D	1	D	0.69078	0.997	D	0.64506	0.926	T	0.36866	-0.9730	10	0.46703	T	0.11	-6.8977	14.9188	0.70818	1.0:0.0:0.0:0.0	.	323	Q9BUQ8	DDX23_HUMAN	P	323	ENSP00000310723:L323P	ENSP00000310723:L323P	L	-	2	0	DDX23	47516986	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.097000	0.94193	2.170000	0.68504	0.379000	0.24179	CTA		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		4	404	0	0	0	1	0	4	404					G	49230719	A	G	49230719	3	3	306	1	0	0	0	0	1	0	0	0	4350	420	15	3	1530	3	DDX23	12	49230719	Missense_Mutation	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		49230719	84621176	4	5372											
YEATS4	8089	broad.mit.edu	37	12	69756619	69756619	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr12:69756619G>A	ENST00000247843.2	+	2	373	c.103G>A	c.(103-105)Gga>Aga	p.G35R	YEATS4_ENST00000548020.1_Missense_Mutation_p.G35R	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	35	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TCGGTATTTTGGAAAGAAAAG	0.323																																						uc001sux.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5						c.(103-105)Gga>Aga		Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.							132	132	132					12																	69756619		2203	4300	6503	SO:0001583	missense	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69756619G>A	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.103G>A	12.37:g.69756619G>A	ENSP00000247843:p.Gly35Arg		Somatic					p.G35R	NM_006530	NP_006521	WXS	Illumina GAIIx	Phase_I	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		1	324	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		35			YEATS.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.103G>A	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287581	0.95517	.	.	ENSG00000127337	ENST00000247843;ENST00000548020;ENST00000552955	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.84551	0.0644	8	.	.	.	-21.7269	20.3736	0.98901	0.0:0.0:1.0:0.0	.	35	O95619	YETS4_HUMAN	R	35	.	.	G	+	1	0	YEATS4	68042886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.866000	0.99616	2.820000	0.97059	0.650000	0.86243	GGA		0.323	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		8	59	0	0	0	1	0	8	59					A	69756619	G	A	69756619	3	1	306	1	0	0	0	0	1	0	0	0	17470	1349	47	2	109	2	YEATS4	12	69756619	Missense_Mutation	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08	20525900	69756619	64095276	5	5373											
MRPS31	10240	broad.mit.edu	37	13	41331142	41331142	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr13:41331142T>A	ENST00000323563.6	-	4	643	c.607A>T	c.(607-609)Aac>Tac	p.N203Y		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	203						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GATATTATGTTACTGAAACTG	0.343																																						uc001uxm.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(607-609)Aac>Tac		Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							65	62	63					13																	41331142		2202	4300	6502	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41331142T>A	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"Mitochondrial ribosomal proteins / small subunits"	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.607A>T	13.37:g.41331142T>A	ENSP00000315397:p.Asn203Tyr		Somatic					p.N203Y	NM_005830	NP_005821	WXS	Illumina GAIIx	Phase_I	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	3	682	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	203					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.607A>T	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892286	0.33442	.	.	ENSG00000102738	ENST00000323563	T	0.32515	1.45	4.64	2.1	0.27182	.	0.295570	0.37483	N	0.002077	T	0.46983	0.1421	M	0.77616	2.38	0.26572	N	0.973541	D	0.64830	0.994	D	0.63597	0.916	T	0.36578	-0.9742	10	0.72032	D	0.01	.	4.9565	0.14044	0.0:0.1018:0.1945:0.7036	.	203	Q92665	RT31_HUMAN	Y	203	ENSP00000315397:N203Y	ENSP00000315397:N203Y	N	-	1	0	MRPS31	40229142	0.998000	0.40836	0.984000	0.44739	0.328000	0.28507	0.425000	0.21346	0.215000	0.20761	0.455000	0.32223	AAC		0.343	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			18	19	0	0	0	1	0	18	19					A	41331142	T	A	41331142	3	1	306	1	0	0	0	0	1	0	0	0	9841	1754	61	5	596	5	MRPS31	13	41331142	Missense_Mutation	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		41331142	73838736	6	5374											
DHRS4L2	317749	broad.mit.edu	37	14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr14:24459498A>G	ENST00000335125.6	+	2	362	c.236A>G	c.(235-237)gAg>gGg	p.E79G	DHRS4L2_ENST00000545240.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.E77G|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.E79G|DHRS4L2_ENST00000534993.1_5'UTR	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	77						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGCAGGGGGAGGGGCTGAGC	0.687																																						uc001wli.4																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(235-237)gAg>gGg		Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 1, mRNA.	Vitamin A(DB00162)						37	40	39					14																	24459498		2201	4298	6499	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24459498A>G		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.236A>G	14.37:g.24459498A>G	ENSP00000334801:p.Glu79Gly		Somatic				DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Missense_Mutation_p.E77G|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Intron|DHRS4L2_uc021rra.1_3'UTR|DHRS4_uc021rrb.1_5'UTR|DHRS4_uc021rrc.1_5'UTR|DHRS4_uc021rre.1_Missense_Mutation_p.E51G|DHRS4_uc010tnt.2_Missense_Mutation_p.E77G	p.E79G	NM_198083	NP_001180565	WXS	Illumina GAIIx	Phase_I	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	1	366	+			79					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.236A>G	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660349	0.29515	.	.	ENSG00000187630	ENST00000348916;ENST00000397071;ENST00000335125;ENST00000537912;ENST00000545240;ENST00000382755	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	3.5	3.5	0.40072	NAD(P)-binding domain (1);	0.313351	0.34386	N	0.004018	D	0.86793	0.6018	N	0.21508	0.67	0.80722	D	1	B;D	0.76494	0.198;0.999	B;D	0.70935	0.17;0.971	D	0.86244	0.1645	10	0.49607	T	0.09	.	10.2563	0.43399	1.0:0.0:0.0:0.0	.	79;77	F6TD35;Q6PKH6	.;DR4L2_HUMAN	G	51;79;79;79;79;77	ENSP00000380261:E79G;ENSP00000334801:E79G;ENSP00000439942:E79G;ENSP00000437883:E79G;ENSP00000372203:E77G	ENSP00000334801:E79G	E	+	2	0	DHRS4L2	23529338	1.000000	0.71417	0.794000	0.32065	0.040000	0.13550	6.397000	0.73239	1.364000	0.46038	0.338000	0.21704	GAG		0.687	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			3	50	0	0	0	1	0	3	50					G	24459498	A	G	24459498	3	3	306	1	0	0	0	0	1	0	0	0	4494	304	11	3	242	3	DHRS4L2	14	24459498	Missense_Mutation	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		24459498	82890042	7	5375											
C15orf2	23742	broad.mit.edu	37	15	24923276	24923276	+	Silent	SNP	G	G	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr15:24923276G>A	ENST00000329468.2	+	1	2736	c.2262G>A	c.(2260-2262)agG>agA	p.R754R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	754					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTCAGTCAGGGCACCAGCTA	0.572																																						uc001ywo.3																			0		p.V753F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(2260-2262)agG>agA		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							117	124	122					15																	24923276		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923276G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2262G>A	15.37:g.24923276G>A			Somatic					p.R754R	NM_018958	NP_061831	WXS	Illumina GAIIx	Phase_I	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	2736	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	754						Silent	SNP	ENST00000329468.2	37	c.2262G>A	CCDS10015.1																																																																																				0.572	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		7	191	0	0	0	1	0	7	191					A	24923276	G	A	24923276	2	1	306	1	0	0	0	0	0	0	0	1	1784	1223	43	2		2	C15orf2	15	24923276	Silent	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08		24923276	77608116	8	5376											
CORO7	79585	broad.mit.edu	37	16	4411173	4411173	+	Silent	SNP	A	A	C			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr16:4411173A>C	ENST00000251166.4	-	18	1909	c.1764T>G	c.(1762-1764)acT>acG	p.T588T	CORO7_ENST00000423908.2_3'UTR|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Silent_p.T570T|CORO7_ENST00000539968.1_Silent_p.T368T|CORO7-PAM16_ENST00000572467.1_Silent_p.T588T|CORO7_ENST00000574025.1_Silent_p.T503T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	588					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CTGTGAGCACAGTCTCTGGCG	0.652																																						uc002cwf.3																			0											c.(1762-1764)acT>acG		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							79	82	81					16																	4411173		2195	4298	6493	SO:0001819	synonymous_variant	100529144							g.chr16:4411173A>C	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1764T>G	16.37:g.4411173A>C			Somatic				CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.T368T|CORO7-PAM16_uc002cwh.4_Silent_p.T588T|CORO7-PAM16_uc010uxh.2_Silent_p.T570T|CORO7-PAM16_uc010uxi.2_Silent_p.T503T|CORO7-PAM16_uc002cwi.1_Silent_p.T368T|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript	p.T588T	NM_001201479	NP_001188408	WXS	Illumina GAIIx	Phase_I					17	2207	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1764T>G	CCDS10513.1																																																																																				0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		13	25	0	0	0	1	0	13	25					C	4411173	A	C	4411173	2	2	306	1	0	0	0	0	0	0	0	1	3759	175	7	5		5	CORO7	16	4411173	Silent	SNP	A	TCGA-ET-A2N1-01A-11D-A18F-08		4411173	85943580	9	5377											
RABEP2	79874	broad.mit.edu	37	16	28920058	28920058	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr16:28920058G>T	ENST00000358201.4	-	8	1705	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	RABEP2_ENST00000544477.1_Missense_Mutation_p.L302M|RABEP2_ENST00000357573.6_Missense_Mutation_p.L341M	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	373					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATGGTGCAGGCACTTGTGG	0.602																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1117-1119)Ctg>Atg		Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.							129	133	132					16																	28920058		2072	4199	6271	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity	g.chr16:28920058G>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1117C>A	16.37:g.28920058G>T	ENSP00000350934:p.Leu373Met		Somatic				NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.L302M|RABEP2_uc010byn.3_Missense_Mutation_p.L341M	p.L373M	NM_024816	NP_079092	WXS	Illumina GAIIx	Phase_I	Q9H5N1	RABE2_HUMAN			7	1165	-			373						Missense_Mutation	SNP	ENST00000358201.4	37	c.1117C>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966815	0.53507	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.38240	1.15;1.15;1.15	4.78	3.74	0.42951	Rabaptin, GTPase-Rab5 binding (1);	0.333064	0.24039	N	0.042112	T	0.44664	0.1304	L	0.41236	1.265	0.29872	N	0.826743	D;D;B	0.58970	0.984;0.98;0.383	P;P;P	0.59889	0.865;0.788;0.549	T	0.40136	-0.9579	10	0.72032	D	0.01	-16.2791	11.7519	0.51853	0.0:0.1958:0.8042:0.0	.	302;341;373	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	M	373;341;302	ENSP00000350934:L373M;ENSP00000350186:L341M;ENSP00000442798:L302M	ENSP00000350186:L341M	L	-	1	2	RABEP2	28827559	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.120000	0.50430	2.210000	0.71456	0.462000	0.41574	CTG		0.602	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		41	71	0	0	0	1	0	41	71					T	28920058	G	T	28920058	3	4	306	1	0	0	0	0	1	0	0	0	12962	991	35	4	616	4	RABEP2	16	28920058	Missense_Mutation	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08	24508885	28920058	61434695	10	5378											
NGFR	4804	broad.mit.edu	37	17	47583935	47583935	+	Silent	SNP	G	G	A			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr17:47583935G>A	ENST00000172229.3	+	3	608	c.483G>A	c.(481-483)gtG>gtA	p.V161V	NGFR_ENST00000504201.1_Silent_p.V67V|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	161					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)			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)					CCAACCACGTGGACCCGTGCC	0.701																																						uc002ioz.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(481-483)gtG>gtA		Homo sapiens nerve growth factor receptor (NGFR), mRNA.							31	23	26					17																	47583935		2193	4287	6480	SO:0001819	synonymous_variant	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.chr17:47583935G>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.483G>A	17.37:g.47583935G>A			Somatic					p.V161V	NM_002507	NP_002498	WXS	Illumina GAIIx	Phase_I	P08138	TNR16_HUMAN			2	608	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		161					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.483G>A	CCDS11549.1																																																																																				0.701	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			9	9	0	0	0	1	0	9	9					A	47583935	G	A	47583935	2	1	306	1	0	0	0	0	0	0	0	1	10396	1335	47	2		2	NGFR	17	47583935	Silent	SNP	G	TCGA-ET-A2N1-01A-11D-A18F-08		47583935	33611275	11	5379											
FAM83E	54854	broad.mit.edu	37	19	49116552	49116552	+	Silent	SNP	T	T	C			TCGA-ET-A2N1-01A-11D-A18F-08	TCGA-ET-A2N1-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed3e66e-f784-483f-ac37-1300736584a4	7e8e39e1-ce53-49ec-9f65-b0e9afcddeb5	g.chr19:49116552T>C	ENST00000263266.3	-	1	267	c.78A>G	c.(76-78)ctA>ctG	p.L26L	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	26										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTCGGAATATAGAAAGCCGG	0.701																																						uc002pjn.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(76-78)ctA>ctG		Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.							9	10	10					19																	49116552		1675	3817	5492	SO:0001819	synonymous_variant	54854							g.chr19:49116552T>C	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.78A>G	19.37:g.49116552T>C			Somatic					p.L26L	NM_017708	NP_060178	WXS	Illumina GAIIx	Phase_I	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	0	143	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	26					Q9NXK1	Silent	SNP	ENST00000263266.3	37	c.78A>G	CCDS42587.1																																																																																				0.701	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		6	6	0	0	0	1	0	6	6					C	49116552	T	C	49116552	2	2	306	1	0	0	0	0	0	0	0	1	5637	1393	49	3		3	FAM83E	19	49116552	Silent	SNP	T	TCGA-ET-A2N1-01A-11D-A18F-08		49116552	10012431	12	5380											
PIK3CD	5293	broad.mit.edu	37	1	9783218	9783218	+	Missense_Mutation	SNP	G	G	A	rs573872848		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:9783218G>A	ENST00000377346.4	+	20	2657	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	PIK3CD_ENST00000536656.1_Missense_Mutation_p.R845H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	821	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.R821H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	ACCGGGGACCGCACAGGCCTC	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		18134	0		0	False		,,,				2504	0					uc001aqe.4																			1	Substitution - Missense(1)	p.R821H(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2533-2535)cGc>cAc		Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.							142	141	141					1																	9783218		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783218G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2462G>A	1.37:g.9783218G>A	ENSP00000366563:p.Arg821His		Somatic				PIK3CD_uc001aqb.4_Missense_Mutation_p.R821H|PIK3CD_uc010oaf.2_Missense_Mutation_p.R820H|PIK3CD_uc021ogb.1_Missense_Mutation_p.R605H	p.R845H	NM_005026	NP_005017	WXS	Illumina GAIIx	Phase_I	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	18	2742	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	821			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2534G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207994	0.39003	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.80653	-1.4;-1.4;-1.4	4.75	0.731	0.18277	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.070648	0.56097	D	0.000021	T	0.68860	0.3047	L	0.35414	1.06	0.80722	D	1	B;B;B	0.19935	0.04;0.04;0.004	B;B;B	0.25884	0.064;0.014;0.008	T	0.57481	-0.7804	10	0.46703	T	0.11	-14.8148	9.0597	0.36427	0.4652:0.0:0.5348:0.0	.	820;845;821	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	H	845;821;845;845	ENSP00000446444:R845H;ENSP00000366563:R821H;ENSP00000354410:R845H	ENSP00000353766:R845H	R	+	2	0	PIK3CD	9705805	1.000000	0.71417	0.023000	0.16930	0.932000	0.56968	1.800000	0.38833	-0.131000	0.11578	0.563000	0.77884	CGC		0.602	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		5	398	0	0	0	1	0	5	398					A	9783218	G	A	9783218	3	1	307	1	0	0	0	0	1	0	0	0	11915	1087	38	1	2532	1	PIK3CD	1	9783218	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		9783218	239467403	1	5381											
PRDX1	5052	broad.mit.edu	37	1	45984618	45984618	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:45984618T>C	ENST00000262746.1	-	2	437	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000319248.8_Missense_Mutation_p.D33G|PRDX1_ENST00000372079.1_Intron	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	33	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACCTTTGTAGTCAGACAGGCT	0.413																																						uc001coc.3																			0		p.S32fs*41(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12						c.(97-99)gAc>gGc		Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.							82	81	81					1																	45984618		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45984618T>C	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.98A>G	1.37:g.45984618T>C	ENSP00000262746:p.Asp33Gly		Somatic				PRDX1_uc001cob.3_Missense_Mutation_p.D33G|PRDX1_uc001coa.3_Missense_Mutation_p.D33G|PRDX1_uc021omw.1_Missense_Mutation_p.D33G	p.D33G	NM_181696	NP_859048	WXS	Illumina GAIIx	Phase_I	Q06830	PRDX1_HUMAN			1	413	-	Acute lymphoblastic leukemia(166;0.155)		33			Thioredoxin.		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.98A>G	CCDS522.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183679	0.57800	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.67	5.67	0.87782	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.217265	0.53938	D	0.000053	T	0.67887	0.2941	H	0.95328	3.655	0.58432	D	0.999999	P	0.39862	0.692	P	0.48141	0.568	T	0.77225	-0.2666	10	0.87932	D	0	-10.2806	16.2002	0.82067	0.0:0.0:0.0:1.0	rs11544939	33	Q06830	PRDX1_HUMAN	G	33	ENSP00000262746:D33G;ENSP00000361152:D33G;ENSP00000407034:D33G;ENSP00000389047:D33G	ENSP00000262746:D33G	D	-	2	0	PRDX1	45757205	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	4.678000	0.61641	2.285000	0.76669	0.528000	0.53228	GAC		0.413	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697		6	89	0	0	0	1	0	6	89					C	45984618	T	C	45984618	3	2	307	1	0	0	0	0	1	0	0	0	12464	1667	58	3	521	3	PRDX1	1	45984618	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	36201400	45984618	203266003	2	5382											
CGN	57530	broad.mit.edu	37	1	151491695	151491695	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:151491695C>T	ENST00000271636.7	+	2	833	c.700C>T	c.(700-702)Cac>Tac	p.H234Y		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	228	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCACCAACCACTGGACCTC	0.587																																						uc009wmw.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(700-702)Cac>Tac		Homo sapiens cingulin (CGN), mRNA.							89	93	92					1																	151491695		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491695C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.700C>T	1.37:g.151491695C>T	ENSP00000271636:p.His234Tyr		Somatic					p.H234Y	NM_020770	NP_065821	WXS	Illumina GAIIx	Phase_I	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	844	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		228			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.700C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890447	0.33348	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.63744	0.92;-0.06	4.96	3.04	0.35103	.	0.561259	0.20537	N	0.090392	T	0.29716	0.0742	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09079	-1.0691	9	.	.	.	-4.1539	5.1662	0.15086	0.1432:0.6148:0.1588:0.0832	.	228	Q9P2M7	CING_HUMAN	Y	234	ENSP00000410836:H234Y;ENSP00000271636:H234Y	.	H	+	1	0	CGN	149758319	0.082000	0.21442	0.010000	0.14722	0.012000	0.07955	0.846000	0.27682	1.416000	0.47057	0.561000	0.74099	CAC		0.587	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		89	176	0	0	0	1	0	89	176					T	151491695	C	T	151491695	3	4	307	1	0	0	0	0	1	0	0	0	3303	594	21	2	702	2	CGN	1	151491695	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	105507077	151491695	97758926	3	5383											
GON4L	54856	broad.mit.edu	37	1	155734928	155734928	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:155734928C>G	ENST00000368331.1	-	21	4384	c.4336G>C	c.(4336-4338)Gtt>Ctt	p.V1446L	GON4L_ENST00000437809.1_Missense_Mutation_p.V1446L|GON4L_ENST00000271883.5_Missense_Mutation_p.V1446L|GON4L_ENST00000361040.5_Missense_Mutation_p.V1446L|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1446					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTGGCCCAACTGGAGTCCCC	0.502																																						uc001flz.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4336-4338)Gtt>Ctt		Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.							118	124	122					1																	155734928		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734928C>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4336G>C	1.37:g.155734928C>G	ENSP00000357315:p.Val1446Leu		Somatic				GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.V1446L|GON4L_uc009wrh.1_Missense_Mutation_p.V1446L|GON4L_uc001fma.1_Missense_Mutation_p.V1446L|GON4L_uc001fmb.4_Missense_Mutation_p.V642L|GON4L_uc001fmc.3_Missense_Mutation_p.V1446L|GON4L_uc001fmd.4_Missense_Mutation_p.V1446L|GON4L_uc009wri.3_Missense_Mutation_p.V1032L	p.V1446L	NM_001037533	NP_001032622	WXS	Illumina GAIIx	Phase_I	Q3T8J9	GON4L_HUMAN			20	4433	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1446					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4336G>C		.	.	.	.	.	.	.	.	.	.	C	7.683	0.689485	0.14973	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.12361	2.9;2.9;2.9;2.69	5.24	3.34	0.38264	.	0.158827	0.43747	D	0.000539	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.41413	-0.9510	10	0.54805	T	0.06	.	8.3315	0.32189	0.1543:0.7669:0.0:0.0789	.	1446;642;1446;1446	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	L	1446	ENSP00000396117:V1446L;ENSP00000357315:V1446L;ENSP00000271883:V1446L;ENSP00000354322:V1446L	ENSP00000271883:V1446L	V	-	1	0	GON4L	154001552	0.950000	0.32346	0.005000	0.12908	0.005000	0.04900	5.418000	0.66429	0.780000	0.33566	-0.141000	0.14075	GTT		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		22	232	0	0	0	1	0	22	232					G	155734928	C	G	155734928	3	3	307	1	0	0	0	0	1	0	0	0	6572	565	20	4	2551	4	GON4L	1	155734928	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	4243233	155734928	93515693	4	5384											
ATP1A2	477	broad.mit.edu	37	1	160094203	160094203	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:160094203T>A	ENST00000361216.3	+	6	702	c.613T>A	c.(613-615)Tct>Act	p.S205T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.S205T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	205					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)			CCGGATCATCTCTTCTCATGG	0.562																																						uc001fvc.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.(613-615)Tct>Act		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							96	75	82					1																	160094203		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160094203T>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.613T>A	1.37:g.160094203T>A	ENSP00000354490:p.Ser205Thr		Somatic				ATP1A2_uc001fvb.2_Missense_Mutation_p.S205T|ATP1A2_uc010piz.1_Missense_Mutation_p.S50T	p.S205T	NM_000702	NP_000693	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	745	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		205					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.613T>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091287	0.55968	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91237	-2.81;-2.81	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.172944	0.52532	D	0.000067	T	0.77025	0.4070	N	0.21194	0.64	0.41343	D	0.987315	B;B	0.22414	0.069;0.021	B;B	0.29524	0.103;0.086	T	0.76429	-0.2962	10	0.46703	T	0.11	.	9.5694	0.39418	0.1568:0.0:0.0:0.8432	.	50;205	B4DHD7;P50993	.;AT1A2_HUMAN	T	50;205;205	ENSP00000354490:S205T;ENSP00000376066:S205T	ENSP00000354490:S205T	S	+	1	0	ATP1A2	158360827	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.023000	0.64084	1.997000	0.58415	0.533000	0.62120	TCT		0.562	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		13	20	0	0	0	1	0	13	20					A	160094203	T	A	160094203	3	1	307	1	0	0	0	0	1	0	0	0	1129	1551	54	5	635	5	ATP1A2	1	160094203	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	4359275	160094203	89156418	5	5385											
LY9	4063	broad.mit.edu	37	1	160784239	160784239	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:160784239G>A	ENST00000263285.6	+	4	790	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.G254R|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.G254R|LY9_ENST00000368041.2_Missense_Mutation_p.G214R|LY9_ENST00000368037.5_Missense_Mutation_p.G254R			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	254	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAACAACGGGGGAGACTGT	0.582																																						uc001fwu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(760-762)Ggg>Agg		Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.							61	64	63					1																	160784239		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784239G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.760G>A	1.37:g.160784239G>A	ENSP00000263285:p.Gly254Arg		Somatic				LY9_uc010pjs.1_Missense_Mutation_p.G254R|LY9_uc001fwv.3_Missense_Mutation_p.G254R|LY9_uc001fww.3_Missense_Mutation_p.G254R|LY9_uc001fwy.1_Missense_Mutation_p.G156R|LY9_uc001fwz.3_5'UTR	p.G254R	NM_002348	NP_002339	WXS	Illumina GAIIx	Phase_I	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	810	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		254			Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.760G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323300	0.24080	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.36699	1.24;1.31	3.76	1.84	0.25277	Immunoglobulin subtype (1);	2.127130	0.02585	N	0.099349	T	0.44350	0.1289	M	0.75447	2.3	0.19300	N	0.999977	D;D;P;D;D;D	0.89917	1.0;1.0;0.94;1.0;1.0;1.0	D;D;B;D;D;D	0.97110	0.999;0.999;0.437;0.999;1.0;0.999	T	0.03483	-1.1032	10	0.59425	D	0.04	-8.5653	6.4283	0.21782	0.2429:0.0:0.7571:0.0	.	254;214;214;254;254;254	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	R	254;254;254;254;214;214;156	ENSP00000342921:G254R;ENSP00000263285:G254R	ENSP00000263285:G254R	G	+	1	0	LY9	159050863	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	0.718000	0.25866	0.327000	0.23409	0.563000	0.77884	GGG		0.582	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		50	92	0	0	0	1	0	50	92					A	160784239	G	A	160784239	3	1	307	1	0	0	0	0	1	0	0	0	9101	1232	43	2	906	2	LY9	1	160784239	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	690036	160784239	88466382	6	5386											
CACNA1E	777	broad.mit.edu	37	1	181767534	181767534	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr1:181767534T>C	ENST00000367573.2	+	48	6506	c.6506T>C	c.(6505-6507)cTc>cCc	p.L2169P	CACNA1E_ENST00000358338.5_Missense_Mutation_p.L2058P|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L2120P|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L2107P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L2126P|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1733P|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L2150P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2169					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCCGGCCCCTCCTTTCCTAC	0.637																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6505-6507)cTc>cCc		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							71	83	79					1																	181767534		1985	4162	6147	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767534T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6506T>C	1.37:g.181767534T>C	ENSP00000356545:p.Leu2169Pro		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.L2126P|CACNA1E_uc009wxs.3_Missense_Mutation_p.L2107P	p.L2169P	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			47	6701	+			2169					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6506T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.236000	0.39498	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.9;-3.9;-3.9;-3.97;-3.9;-3.9	5.55	5.55	0.83447	.	0.542919	0.20103	N	0.099188	D	0.95749	0.8617	L	0.29908	0.895	0.80722	D	1	B;D	0.60160	0.045;0.987	B;P	0.58391	0.023;0.838	D	0.95078	0.8210	10	0.35671	T	0.21	.	15.432	0.75108	0.0:0.0:0.0:1.0	.	2107;2126	Q15878-2;Q15878-3	.;.	P	2126;2107;2120;2058;1733;2150;2169	ENSP00000356542:L2126P;ENSP00000434814:L2107P;ENSP00000350183:L2120P;ENSP00000351101:L2058P;ENSP00000356539:L1733P;ENSP00000353222:L2150P;ENSP00000356545:L2169P	ENSP00000350183:L2120P	L	+	2	0	CACNA1E	180034157	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.432000	0.59922	2.117000	0.64856	0.456000	0.33151	CTC		0.637	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	202	0	0	0	1	0	4	202					C	181767534	T	C	181767534	3	2	307	1	0	0	0	0	1	0	0	0	2542	1551	54	3	6563	3	CACNA1E	1	181767534	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	20983295	181767534	67483087	7	5387											
HK2	3099	broad.mit.edu	37	2	75081444	75081444	+	Missense_Mutation	SNP	C	C	T	rs567201785		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr2:75081444C>T	ENST00000290573.2	+	2	688	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	HK2_ENST00000409174.1_Missense_Mutation_p.R2C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	30	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R30C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCACATGCGCCTCTCTGA	0.488																																						uc002snd.3																			1	Substitution - Missense(1)	p.R30C(2)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(88-90)Cgc>Tgc		Homo sapiens hexokinase 2 (HK2), mRNA.							242	252	248					2																	75081444		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75081444C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.88C>T	2.37:g.75081444C>T	ENSP00000290573:p.Arg30Cys		Somatic					p.R30C	NM_000189	NP_000180	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			1	2014	+			30			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.88C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772471	0.90108	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98550	-4.99;-4.99	5.13	5.13	0.70059	Hexokinase, N-terminal (1);	0.191170	0.47852	D	0.000216	D	0.98579	0.9525	M	0.80616	2.505	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	D	0.98640	1.0675	10	0.48119	T	0.1	-13.6651	16.123	0.81375	0.0:1.0:0.0:0.0	.	30	P52789	HXK2_HUMAN	C	30;30;2	ENSP00000290573:R30C;ENSP00000387140:R2C	ENSP00000290573:R30C	R	+	1	0	HK2	74934952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.665000	0.90641	0.561000	0.74099	CGC		0.488	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		5	570	0	0	0	1	0	5	570					T	75081444	C	T	75081444	3	4	307	1	0	0	0	0	1	0	0	0	7191	768	27	1	94	1	HK2	2	75081444	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		75081444	168117929	8	5388											
ALPI	248	broad.mit.edu	37	2	233321115	233321115	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr2:233321115G>T	ENST00000295463.3	+	2	201	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	42					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)		CCTGGATGCTGCCAAGAAGCT	0.632																																						uc002vst.4																			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.(124-126)Gcc>Tcc		Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.							69	69	69					2																	233321115		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321115G>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.124G>T	2.37:g.233321115G>T	ENSP00000295463:p.Ala42Ser		Somatic				ALPI_uc002vsu.4_5'UTR	p.A42S	NM_001631	NP_001622	WXS	Illumina GAIIx	Phase_I	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)	1	201	+		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)	42					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.124G>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	g	10.35	1.325840	0.24080	.	.	ENSG00000163295	ENST00000295463	D	0.96200	-3.94	5.49	4.61	0.57282	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96119	0.8735	M	0.83953	2.67	0.29821	N	0.830818	B	0.30824	0.296	B	0.44108	0.441	D	0.94236	0.7481	10	0.51188	T	0.08	.	9.3877	0.38354	0.0766:0.0:0.7805:0.1429	.	42	P09923	PPBI_HUMAN	S	42	ENSP00000295463:A42S	ENSP00000295463:A42S	A	+	1	0	ALPI	233029359	0.625000	0.27111	0.688000	0.30117	0.017000	0.09413	1.440000	0.35024	1.464000	0.47987	0.655000	0.94253	GCC		0.632	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		4	154	0	0	0	1	0	4	154					T	233321115	G	T	233321115	3	4	307	1	0	0	0	0	1	0	0	0	543	1319	46	4	130	4	ALPI	2	233321115	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	158239671	233321115	9878258	9	5389											
HACL1	26061	broad.mit.edu	37	3	15616558	15616558	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr3:15616558A>G	ENST00000321169.5	-	10	1202	c.835T>C	c.(835-837)Ttt>Ctt	p.F279L	HACL1_ENST00000456194.2_Missense_Mutation_p.F252L|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.F253L|HACL1_ENST00000451445.2_Missense_Mutation_p.F197L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	279					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTGGCACCAAATAACACAATT	0.318																																						uc003caf.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.(835-837)Ttt>Ctt		Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.							75	74	74					3																	15616558		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15616558A>G	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"2-hydroxyphytanoyl-CoA lyase"	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.835T>C	3.37:g.15616558A>G	ENSP00000323811:p.Phe279Leu		Somatic				HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Intron|HACL1_uc011avs.2_Missense_Mutation_p.F252L|HACL1_uc011avt.2_Missense_Mutation_p.F253L|HACL1_uc003cag.3_Intron|HACL1_uc011avu.2_Missense_Mutation_p.F197L	p.F279L	NM_012260	NP_036392	WXS	Illumina GAIIx	Phase_I	Q9UJ83	HACL1_HUMAN			9	995	-			279					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.835T>C	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	A	6.887	0.533062	0.13188	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.5	-3.26	0.05064	Thiamine pyrophosphate enzyme, central domain (1);	0.411949	0.29280	N	0.012604	T	0.05364	0.0142	N	0.00131	-2.04	0.30146	N	0.803535	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.39231	-0.9624	10	0.07175	T	0.84	.	15.0661	0.71996	0.2097:0.0:0.7903:0.0	.	197;253;252;279	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	L	279;197;252;253	ENSP00000323811:F279L;ENSP00000403656:F197L;ENSP00000390699:F252L;ENSP00000404883:F253L	ENSP00000323811:F279L	F	-	1	0	HACL1	15591562	0.999000	0.42202	0.969000	0.41365	0.988000	0.76386	0.756000	0.26419	-0.501000	0.06605	-0.385000	0.06624	TTT		0.318	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		12	78	0	0	0	1	0	12	78					G	15616558	A	G	15616558	3	3	307	1	0	0	0	0	1	0	0	0	6941	101	4	3	933	3	HACL1	3	15616558	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		15616558	182405872	10	5390											
PHLDB2	90102	broad.mit.edu	37	3	111693318	111693318	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr3:111693318T>A	ENST00000431670.2	+	18	4081	c.3670T>A	c.(3670-3672)Tat>Aat	p.Y1224N	PHLDB2_ENST00000393923.3_Missense_Mutation_p.Y1208N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Y1181N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Y1181N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Y715N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Y1224N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGACAGAATCTATTATATGGT	0.388																																						uc010hqa.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3670-3672)Tat>Aat		Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.							103	105	105					3																	111693318		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111693318T>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3670T>A	3.37:g.111693318T>A	ENSP00000405405:p.Tyr1224Asn		Somatic				PHLDB2_uc003dyc.3_Missense_Mutation_p.Y1208N|PHLDB2_uc003dyd.3_Missense_Mutation_p.Y1181N|PHLDB2_uc003dyg.3_Missense_Mutation_p.Y1224N|PHLDB2_uc003dyh.3_Missense_Mutation_p.Y1181N|PHLDB2_uc003dyi.3_Missense_Mutation_p.Y715N|PHLDB2_uc003dyj.3_Missense_Mutation_p.Y279N	p.Y1224N	NM_001134438	NP_001127911	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			17	4081	+			1224			PH.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3670T>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478339	0.44044	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	6.17	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.183165	0.49916	D	0.000129	D	0.90463	0.7013	M	0.93939	3.475	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	0.999;0.999;1.0;1.0;1.0	D	0.92053	0.5650	10	0.87932	D	0	.	12.8294	0.57738	0.0:0.0:0.1366:0.8634	.	336;715;1224;1181;1208	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	N	1208;1224;1181;1224;1181;715	ENSP00000377500:Y1208N;ENSP00000405405:Y1224N;ENSP00000405292:Y1181N;ENSP00000377502:Y1224N;ENSP00000418319:Y1181N;ENSP00000420303:Y715N	ENSP00000377500:Y1208N	Y	+	1	0	PHLDB2	113176008	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	8.040000	0.89188	1.132000	0.42129	-0.316000	0.08728	TAT		0.388	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		47	112	0	0	0	1	0	47	112					A	111693318	T	A	111693318	3	1	307	1	0	0	0	0	1	0	0	0	11852	1522	53	5	3821	5	PHLDB2	3	111693318	Missense_Mutation	SNP	T	TCGA-ET-A2N4-01A-12D-A19J-08	96076760	111693318	86329112	11	5391											
PDLIM3	27295	broad.mit.edu	37	4	186429465	186429465	+	Missense_Mutation	SNP	G	G	A	rs1141102		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr4:186429465G>A	ENST00000284770.5	-	5	723	c.650C>T	c.(649-651)aCa>aTa	p.T217I	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Intron	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	217				T -> I (in Ref. 1; AAC16670). {ECO:0000305}.	actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CATCAAAGGTGTTTCCCCTAG	0.393																																						uc003ixw.4																			0		p.E216K(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(649-651)aCa>aTa		Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.							135	125	128					4																	186429465		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186429465G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.650C>T	4.37:g.186429465G>A	ENSP00000284770:p.Thr217Ile		Somatic				PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron	p.T217I	NM_014476	NP_055291	WXS	Illumina GAIIx	Phase_I	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	4	774	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	217	T -> I (in Ref. 1; AAC16670).				B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.650C>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	9.943	1.218131	0.22373	.	.	ENSG00000154553	ENST00000284770	T	0.35605	1.3	5.95	5.1	0.69264	.	0.607305	0.19354	N	0.116338	T	0.31389	0.0795	L	0.44542	1.39	0.58432	D	0.999999	B	0.15473	0.013	B	0.19391	0.025	T	0.07028	-1.0794	10	0.37606	T	0.19	-0.0933	10.581	0.45255	0.0:0.129:0.6038:0.2672	rs1141102;rs3205111;rs17400979	217	Q53GG5	PDLI3_HUMAN	I	217	ENSP00000284770:T217I	ENSP00000284770:T217I	T	-	2	0	PDLIM3	186666459	0.690000	0.27699	0.369000	0.25952	0.647000	0.38526	1.529000	0.35996	1.495000	0.48549	0.563000	0.77884	ACA		0.393	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		7	220	0	0	0	1	0	7	220					A	186429465	G	A	186429465	3	1	307	1	0	0	0	0	1	0	0	0	11681	1377	48	2	460	2	PDLIM3	4	186429465	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		186429465	4724811	12	5392											
POM121	9883	broad.mit.edu	37	7	72413486	72413486	+	Missense_Mutation	SNP	C	C	T	rs372474703		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:72413486C>T	ENST00000434423.2	+	11	2954	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L	POM121_ENST00000395270.1_Missense_Mutation_p.P720L|POM121_ENST00000358357.3_Missense_Mutation_p.P720L|POM121_ENST00000257622.4_Missense_Mutation_p.P720L|POM121_ENST00000446813.1_Missense_Mutation_p.P720L			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	985	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)				GCCGCCAAGCCGGCCCTTGCC	0.657																																						uc003twk.2																			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.(2953-2955)cCg>cTg		Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.		C	LEU/PRO	2,4404		0,2,2201	41	54	50		2159	1.4	0.0	7		50	0,8598		0,0,4299	no	missense	POM121	NM_172020.2	98	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	720/985	72413486	2,13002	2203	4299	6502	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.chr7:72413486C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2954C>T	7.37:g.72413486C>T	ENSP00000405562:p.Pro985Leu		Somatic				POM121_uc003twj.3_Missense_Mutation_p.P720L|POM121_uc010lam.1_Missense_Mutation_p.P720L	p.P985L	NM_172020	NP_742017	WXS	Illumina GAIIx	Phase_I	Q96HA1	P121A_HUMAN			10	2954	+		Lung NSC(55;0.163)	985			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2954C>T		.	.	.	.	.	.	.	.	.	.	C	4.198	0.035470	0.08148	4.54E-4	0.0	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.09538	2.97;3.04;2.97;3.04;3.22	2.33	1.41	0.22369	.	0.421011	0.17633	N	0.167314	T	0.13200	0.0320	M	0.64676	1.99	0.09310	N	0.999998	D;P	0.55605	0.972;0.95	B;P	0.46885	0.425;0.53	T	0.11060	-1.0603	10	0.36615	T	0.2	.	6.8353	0.23933	0.0:0.8457:0.0:0.1543	.	720;985	A8MXF9;Q96HA1	.;P121A_HUMAN	L	720;720;720;720;985	ENSP00000393020:P720L;ENSP00000257622:P720L;ENSP00000378687:P720L;ENSP00000351124:P720L;ENSP00000405562:P985L	ENSP00000257622:P720L	P	+	2	0	POM121	72051422	0.736000	0.28164	0.017000	0.16124	0.027000	0.11550	2.797000	0.47877	1.309000	0.44985	0.173000	0.16961	CCG		0.657	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			8	171	0	0	0	1	0	8	171					T	72413486	C	T	72413486	3	4	307	1	0	0	0	0	1	0	0	0	12239	652	23	1	2197	1	POM121	7	72413486	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		72413486	86725177	13	5393											
COL1A2	1278	broad.mit.edu	37	7	94058709	94058709	+	Silent	SNP	G	G	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:94058709G>A	ENST00000297268.6	+	51	4392	c.3921G>A	c.(3919-3921)agG>agA	p.R1307R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1307	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAACAGCAGGTTCACTTACA	0.453										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(3919-3921)agG>agA		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)						116	99	104					7																	94058709		2203	4300	6503	SO:0001819	synonymous_variant	1278				Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94058709G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3921G>A	7.37:g.94058709G>A		HNSCC(75;0.22)	Somatic				COL1A2_uc011kib.1_Silent_p.R159R	p.R1307R	NM_000089	NP_000080	WXS	Illumina GAIIx	Phase_I	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		50	4392	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1307			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.3921G>A	CCDS34682.1																																																																																				0.453	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		28	51	0	0	0	1	0	28	51					A	94058709	G	A	94058709	2	1	307	1	0	0	0	0	0	0	0	1	3678	1252	44	2		2	COL1A2	7	94058709	Silent	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	21645223	94058709	65079954	14	5394											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		63	76	0	0	0	1	0	63	76					T	140453136	A	T	140453136	3	4	307	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08	46394427	140453136	18685527	15	5395											
CHMP7	91782	broad.mit.edu	37	8	23115930	23115930	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:23115930G>A	ENST00000397677.1	+	7	1576	c.928G>A	c.(928-930)Gac>Aac	p.D310N	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.D310N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	310					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)		AGGCATCCTGGACCGGATCTA	0.572																																						uc003xdc.2																			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.(928-930)Gac>Aac		Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.							245	209	221					8																	23115930		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity	g.chr8:23115930G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.928G>A	8.37:g.23115930G>A	ENSP00000380794:p.Asp310Asn		Somatic				CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.D200N|CHMP7_uc003xde.2_Missense_Mutation_p.D168N	p.D310N	NM_152272	NP_689485	WXS	Illumina GAIIx	Phase_I	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	6	1576	+		Prostate(55;0.0513)	310					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.928G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539401	0.85917	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.71341	-0.56;-0.56	5.91	5.91	0.95273	.	0.080649	0.85682	D	0.000000	T	0.76521	0.3999	M	0.62723	1.935	0.58432	D	0.999991	D;B	0.56968	0.978;0.008	P;B	0.54590	0.756;0.038	T	0.70680	-0.4805	10	0.13470	T	0.59	-13.2932	16.9982	0.86373	0.0:0.0:1.0:0.0	.	200;310	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	N	310	ENSP00000380794:D310N;ENSP00000324491:D310N	ENSP00000324491:D310N	D	+	1	0	CHMP7	23171875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.860000	0.92272	2.801000	0.96364	0.655000	0.94253	GAC		0.572	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		11	531	0	0	0	1	0	11	531					A	23115930	G	A	23115930	3	1	307	1	0	0	0	0	1	0	0	0	3361	1174	41	2	950	2	CHMP7	8	23115930	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		23115930	123248092	16	5396											
RP1	6101	broad.mit.edu	37	8	55541490	55541490	+	Missense_Mutation	SNP	C	C	A	rs375430744		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:55541490C>A	ENST00000220676.1	+	4	5196	c.5048C>A	c.(5047-5049)tCt>tAt	p.S1683Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1683					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTGGCTCTTCTGAACAGGTA	0.413																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5047-5049)tCt>tAt		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							157	160	159					8																	55541490		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541490C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5048C>A	8.37:g.55541490C>A	ENSP00000220676:p.Ser1683Tyr		Somatic				RP1_uc011ldy.1_Intron	p.S1683Y	NM_006269	NP_006260	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	5196	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1683						Missense_Mutation	SNP	ENST00000220676.1	37	c.5048C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037834	0.35989	.	.	ENSG00000104237	ENST00000220676	T	0.24538	1.85	5.67	2.73	0.32206	.	0.000000	0.48767	D	0.000177	T	0.23094	0.0558	M	0.61703	1.905	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.29640	-1.0005	10	0.87932	D	0	.	4.5313	0.12006	0.3034:0.5257:0.0:0.1709	.	1683	P56715	RP1_HUMAN	Y	1683	ENSP00000220676:S1683Y	ENSP00000220676:S1683Y	S	+	2	0	RP1	55704043	0.000000	0.05858	0.229000	0.23960	0.981000	0.71138	-0.181000	0.09740	0.254000	0.21573	0.655000	0.94253	TCT		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		20	219	0	0	0	1	0	20	219					A	55541490	C	A	55541490	3	1	307	1	0	0	0	0	1	0	0	0	13532	913	32	4	5058	4	RP1	8	55541490	Missense_Mutation	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	32425560	55541490	90822532	17	5397											
DCAF13	81034	broad.mit.edu	37	8	104427255	104427255	+	5'UTR	SNP	G	G	C			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr8:104427255G>C	ENST00000297578.4	-	0	77				DCAF13_ENST00000521971.1_5'Flank|SLC25A32_ENST00000543107.1_5'UTR|DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000297579.5_Missense_Mutation_p.V13L|DCAF13_ENST00000521716.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTCGCCCCTTGTGAGCGCAAC	0.697																																						uc003yln.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(37-39)Gtg>Ctg		Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.							19	16	17					8																	104427255		2194	4292	6486	SO:0001623	5_prime_UTR_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427255G>C	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.-90C>G	8.37:g.104427255G>C			Somatic				SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR	p.V13L	NM_015420	NP_056235	WXS	Illumina GAIIx	Phase_I	Q9NV06	DCA13_HUMAN			0	314	+			0					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.37G>C	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904625	0.33628	.	.	ENSG00000164934	ENST00000297579	T	0.75589	-0.95	3.86	-7.73	0.01245	.	3.277830	0.01342	U	0.011608	T	0.62380	0.2423	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.55903	-0.8067	7	0.87932	D	0	5.6314	1.7396	0.02949	0.2588:0.0855:0.3414:0.3144	.	.	.	.	L	13	ENSP00000297579:V13L	ENSP00000297579:V13L	V	+	1	0	DCAF13	104496431	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.713000	0.00816	-2.935000	0.00299	-2.520000	0.00184	GTG		0.697	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		16	19	0	0	0	1	0	16	19					C	104427255	G	C	104427255	1	2	307	0	1	0	0	0	0	0	0	0	4266	1377	48	4		4	DCAF13	8	104427255	5'UTR	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	48885765	104427255	41936767	18	5398											
OR4C46	119749	broad.mit.edu	37	11	51515327	51515327	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr11:51515327A>G	ENST00000328188.1	+	1	46	c.46A>G	c.(46-48)Aca>Gca	p.T16A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCTGGGGCTTACAGAGAATCC	0.343																																						uc010ric.2																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(46-48)Aca>Gca		Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.							148	142	144					11																	51515327		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515327A>G		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.46A>G	11.37:g.51515327A>G	ENSP00000329056:p.Thr16Ala		Somatic					p.T16A	NM_001004703	NP_001004703	WXS	Illumina GAIIx	Phase_I	A6NHA9	O4C46_HUMAN			0	46	+			16						Missense_Mutation	SNP	ENST00000328188.1	37	c.46A>G	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.014663	0.35511	.	.	ENSG00000185926	ENST00000328188	T	0.00421	7.46	2.63	-0.182	0.13287	.	0.000000	0.35495	U	0.003161	T	0.00524	0.0017	M	0.76170	2.325	0.09310	N	1	P	0.46706	0.883	P	0.52267	0.694	T	0.49978	-0.8881	10	0.66056	D	0.02	.	1.9323	0.03330	0.5666:0.0:0.1656:0.2678	.	16	A6NHA9	O4C46_HUMAN	A	16	ENSP00000329056:T16A	ENSP00000329056:T16A	T	+	1	0	OR4C46	51371903	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	0.083000	0.14871	0.270000	0.21984	0.113000	0.15668	ACA		0.343	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		5	188	0	0	0	1	0	5	188					G	51515327	A	G	51515327	3	3	307	1	0	0	0	0	1	0	0	0	11051	391	14	3	48	3	OR4C46	11	51515327	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		51515327	83491189	19	5399											
NCAPD3	23310	broad.mit.edu	37	11	134080347	134080347	+	Splice_Site	SNP	G	G	A	rs142896286	byFrequency	TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr11:134080347G>A	ENST00000534548.2	-	4	448	c.384C>T	c.(382-384)ggC>ggT	p.G128G		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	128					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGGCTACACTGCCTATTCATG	0.358													G|||	2	0.000399361	0	0	5008	,	,		19361	0		0.002	False		,,,				2504	0					uc001qhd.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e4-1		Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.		G		0,4402		0,0,2201	99	96	97		384	-2.8	1.0	11	dbSNP_134	97	6,8588	5.0+/-18.6	0,6,4291	yes	coding-synonymous-near-splice	NCAPD3	NM_015261.2		0,6,6492	AA,AG,GG		0.0698,0.0,0.0462		128/1499	134080347	6,12990	2201	4297	6498	SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134080347G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.383-1C>T	11.37:g.134080347G>A			Somatic				NCAPD3_uc010scm.1_Splice_Site|NCAPD3_uc009zda.1_Splice_Site	p.G128_splice	NM_015261	NP_056076	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	4	989	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	128					A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37	c.383_splice	CCDS31723.1																																																																																				0.358	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Silent	50	63	0	0	0	1	0	50	63					A	134080347	G	A	134080347	5	1	307	1	0	0	0	0	0	0	1	0	10206	1333	46	2	4240	2	NCAPD3	11	134080347	Splice_Site	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08	82565020	134080347	926169	20	5400											
ACACB	32	broad.mit.edu	37	12	109614053	109614053	+	Silent	SNP	G	G	T			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr12:109614053G>T	ENST00000338432.7	+	9	1541	c.1422G>T	c.(1420-1422)ccG>ccT	p.P474P	ACACB_ENST00000377854.5_Silent_p.P474P|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	474	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1420-1422)ccG>ccT		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						183	188	186					12																	109614053		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109614053G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1422G>T	12.37:g.109614053G>T			Somatic				ACACB_uc001toc.3_Silent_p.P474P	p.P474P	NM_001093	NP_001084	WXS	Illumina GAIIx	Phase_I	O00763	ACACB_HUMAN			8	1541	+			474			ATP-grasp.|Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.1422G>T	CCDS31898.1																																																																																				0.478	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		169	227	0	0	0	1	0	169	227					T	109614053	G	T	109614053	2	4	307	1	0	0	0	0	0	0	0	1	107	1045	37	4		4	ACACB	12	109614053	Silent	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		109614053	24237842	21	5401											
CYSLTR2	57105	broad.mit.edu	37	13	49281729	49281729	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr13:49281729G>A	ENST00000282018.3	+	1	779	c.776G>A	c.(775-777)tGt>tAt	p.C259Y		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	259					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)	TTCTTCTTGTGTTTCCTGCCC	0.498																																						uc010acw.1																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(775-777)tGt>tAt		Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	Nedocromil(DB00716)						140	125	130					13																	49281729		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281729G>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.776G>A	13.37:g.49281729G>A	ENSP00000282018:p.Cys259Tyr		Somatic				CYSLTR2_uc010acx.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010acy.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010acz.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010ada.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010adb.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010adc.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010add.1_Missense_Mutation_p.C259Y|CYSLTR2_uc001vck.2_Missense_Mutation_p.C259Y|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C259Y	p.C259Y	NM_020377	NP_065110	WXS	Illumina GAIIx	Phase_I	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	1066	+		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)	259					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.776G>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438036	0.83885	.	.	ENSG00000152207	ENST00000282018	T	0.54279	0.58	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.82958	0.5150	H	0.97540	4.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.88082	0.2807	10	0.56958	D	0.05	.	18.7244	0.91708	0.0:0.0:1.0:0.0	.	259	Q9NS75	CLTR2_HUMAN	Y	259	ENSP00000282018:C259Y	ENSP00000282018:C259Y	C	+	2	0	CYSLTR2	48179730	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	9.823000	0.99369	2.678000	0.91216	0.655000	0.94253	TGT		0.498	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			50	63	0	0	0	1	0	50	63					A	49281729	G	A	49281729	3	1	307	1	0	0	0	0	1	0	0	0	4202	1377	48	2	778	2	CYSLTR2	13	49281729	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		49281729	65888149	22	5402											
GPR97	222487	broad.mit.edu	37	16	57718006	57718006	+	Silent	SNP	C	C	T	rs368898879		TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr16:57718006C>T	ENST00000333493.4	+	9	1205	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F|GPR97_ENST00000327655.6_Silent_p.F138F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	348					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587																																						uc002emh.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1042-1044)ttC>ttT		Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.		C		0,4396		0,0,2198	105	101	102		1044	1.0	1.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR97	NM_170776.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		348/550	57718006	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57718006C>T	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1044C>T	16.37:g.57718006C>T			Somatic				GPR97_uc010vhv.2_Silent_p.F228F|GPR97_uc010cdd.3_Intron|GPR97_uc010cde.3_Intron	p.F348F	NM_170776	NP_740746	WXS	Illumina GAIIx	Phase_I	Q86Y34	GPR97_HUMAN			8	1147	+			348					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1044C>T	CCDS10786.1																																																																																				0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		49	118	0	0	0	1	0	49	118					T	57718006	C	T	57718006	2	4	307	1	0	0	0	0	0	0	0	1	6720	854	30	2		2	GPR97	16	57718006	Silent	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08		57718006	32636747	23	5403											
GLG1	2734	broad.mit.edu	37	16	74530417	74530417	+	Silent	SNP	C	C	T			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr16:74530417C>T	ENST00000422840.2	-	5	899	c.900G>A	c.(898-900)gaG>gaA	p.E300E	GLG1_ENST00000205061.5_Silent_p.E300E|GLG1_ENST00000447066.2_Silent_p.E289E	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	300					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCGATGACAGCTCAGCCACCC	0.448																																						uc002fcx.3																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(898-900)gaG>gaA		Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.							91	95	94					16																	74530417		2198	4300	6498	SO:0001819	synonymous_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74530417C>T		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.900G>A	16.37:g.74530417C>T			Somatic				GLG1_uc002fcw.4_Silent_p.E289E|GLG1_uc002fcy.4_Silent_p.E300E|GLG1_uc002fcz.4_Intron	p.E300E	NM_012201	NP_036333	WXS	Illumina GAIIx	Phase_I	Q92896	GSLG1_HUMAN			4	950	-			300					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	c.900G>A	CCDS45527.1																																																																																				0.448	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		6	123	0	0	0	1	0	6	123					T	74530417	C	T	74530417	2	4	307	1	0	0	0	0	0	0	0	1	6436	796	28	2		2	GLG1	16	74530417	Silent	SNP	C	TCGA-ET-A2N4-01A-12D-A19J-08	16812411	74530417	15824336	24	5404											
VPS53	55275	broad.mit.edu	37	17	617889	617889	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr17:617889G>A	ENST00000571805.1	-	1	197	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.P21S|VPS53_ENST00000291074.5_Missense_Mutation_p.P21S|VPS53_ENST00000401468.3_Missense_Mutation_p.P21S|VPS53_ENST00000437048.2_Missense_Mutation_p.P21S			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	21					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGCACCTCGGGCGTGAGCTGC	0.711																																						uc010cjo.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(61-63)Ccc>Tcc		Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.							61	63	62					17																	617889		2203	4300	6503	SO:0001583	missense	55275				protein transport	Golgi apparatus|endosome membrane		g.chr17:617889G>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.61C>T	17.37:g.617889G>A	ENSP00000459312:p.Pro21Ser		Somatic				VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.P21S|VPS53_uc002frn.2_Missense_Mutation_p.P21S|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.P21S	p.P21S	NM_001128159	NP_001121631	WXS	Illumina GAIIx	Phase_I	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	0	208	-			21					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.61C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.381303	0.95945	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T	0.47528	1.56;1.44;0.84;1.53	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.76494	0.993;0.997;0.998;0.999	D;D;D;D	0.72338	0.968;0.963;0.962;0.977	T	0.67692	-0.5605	10	0.59425	D	0.04	-15.7492	16.5629	0.84570	0.0:0.0:1.0:0.0	.	21;21;21;21	E7EVT8;Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	S	21	ENSP00000401435:P21S;ENSP00000291074:P21S;ENSP00000384294:P21S;ENSP00000373692:P21S	ENSP00000291074:P21S	P	-	1	0	VPS53	564639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.002000	0.88514	2.506000	0.84524	0.591000	0.81541	CCC		0.711	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		16	212	0	0	0	1	0	16	212					A	617889	G	A	617889	3	1	307	1	0	0	0	0	1	0	0	0	17212	1203	42	2	2540	2	VPS53	17	617889	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		617889	80577321	25	5405											
CYP24A1	1591	broad.mit.edu	37	20	52775530	52775530	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr20:52775530G>A	ENST00000216862.3	-	8	1516	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S	CYP24A1_ENST00000395955.3_Missense_Mutation_p.P375S|CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395954.3_Missense_Mutation_p.P233S	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	375					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|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 D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTTAAATACGGCATATTCCTC	0.388																																						uc002xwv.2																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1123-1125)Ccg>Tcg		Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						128	134	132					20																	52775530		2203	4300	6503	SO:0001583	missense	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52775530G>A	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1123C>T	20.37:g.52775530G>A	ENSP00000216862:p.Pro375Ser		Somatic				CYP24A1_uc002xwu.1_Missense_Mutation_p.P233S|CYP24A1_uc002xww.2_Missense_Mutation_p.P375S	p.P375S	NM_000782	NP_000773	WXS	Illumina GAIIx	Phase_I	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1521	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		375					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.1123C>T	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665841	0.67700	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.74842	-0.88;-0.88;-0.88	5.43	4.48	0.54585	.	0.051522	0.85682	N	0.000000	D	0.84844	0.5562	M	0.74389	2.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.977;0.999;0.999	D	0.86075	0.1540	10	0.62326	D	0.03	-14.531	13.1815	0.59657	0.077:0.0:0.923:0.0	.	375;375;233	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	S	375;375;233	ENSP00000216862:P375S;ENSP00000379285:P375S;ENSP00000379284:P233S	ENSP00000216862:P375S	P	-	1	0	CYP24A1	52208937	1.000000	0.71417	0.995000	0.50966	0.606000	0.37113	7.519000	0.81809	1.274000	0.44362	0.650000	0.86243	CCG		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			4	206	0	0	0	1	0	4	206					A	52775530	G	A	52775530	3	1	307	1	0	0	0	0	1	0	0	0	4154	1203	42	2	437	2	CYP24A1	20	52775530	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		52775530	10249990	26	5406											
SFI1	9814	broad.mit.edu	37	22	31927093	31927093	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chr22:31927093A>G	ENST00000400288.2	+	4	421	c.316A>G	c.(316-318)Aga>Gga	p.R106G	SFI1_ENST00000432498.1_Missense_Mutation_p.R106G|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000540643.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	106					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GACTTTTGGAAGAGTATTTCC	0.318																																						uc003ale.3																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(316-318)Aga>Gga		Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.							112	106	108					22																	31927093		1829	4081	5910	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31927093A>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.316A>G	22.37:g.31927093A>G	ENSP00000383145:p.Arg106Gly		Somatic				SFI1_uc003ald.1_Intron|SFI1_uc003alf.3_Missense_Mutation_p.R106G|SFI1_uc003alg.3_Intron|SFI1_uc011alp.2_Intron|SFI1_uc011alq.2_Intron|SFI1_uc003alh.3_Intron	p.R106G	NM_001007467	NP_001007468	WXS	Illumina GAIIx	Phase_I	A8K8P3	SFI1_HUMAN			3	709	+			106					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.316A>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988624	0.74589	.	.	ENSG00000198089	ENST00000432498;ENST00000400288;ENST00000450787	T;T;T	0.30981	2.71;2.73;1.51	4.26	4.26	0.50523	.	0.074424	0.51477	D	0.000092	T	0.32315	0.0825	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.87578	0.998;0.985	T	0.31641	-0.9936	10	0.72032	D	0.01	.	9.9562	0.41668	1.0:0.0:0.0:0.0	.	106;106	A8K8P3-2;A8K8P3	.;SFI1_HUMAN	G	106;106;57	ENSP00000402679:R106G;ENSP00000383145:R106G;ENSP00000389364:R57G	ENSP00000383145:R106G	R	+	1	2	SFI1	30257093	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.310000	0.43708	1.926000	0.55796	0.363000	0.22086	AGA		0.318	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		6	87	0	0	0	1	0	6	87					G	31927093	A	G	31927093	3	3	307	1	0	0	0	0	1	0	0	0	14156	64	3	3	326	3	SFI1	22	31927093	Missense_Mutation	SNP	A	TCGA-ET-A2N4-01A-12D-A19J-08		31927093	19377473	27	5407											
FOXP3	50943	broad.mit.edu	37	X	49114015	49114015	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N4-01A-12D-A19J-08	TCGA-ET-A2N4-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e2107cb-8c52-4f2a-8c41-1a305c14044c	c9f32c4e-5746-4269-9e5b-e8816cf87b93	g.chrX:49114015G>A	ENST00000376207.4	-	4	510	c.323C>T	c.(322-324)aCg>aTg	p.T108M	FOXP3_ENST00000376199.2_Missense_Mutation_p.T73M|FOXP3_ENST00000557224.1_Missense_Mutation_p.T73M|FOXP3_ENST00000376197.1_Missense_Mutation_p.T58M|FOXP3_ENST00000518685.1_Missense_Mutation_p.T73M|FOXP3_ENST00000455775.2_Missense_Mutation_p.T108M	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	108					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GGCATCCACCGTTGAGAGCTG	0.677													G|||	2	0.000529801	0	0.0014	3775	,	,		12462	0		0	False		,,,				2504	0.001				GBM(182;1432 2112 16160 23073 31774)	uc011mnb.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	GRCh37	CM066087	FOXP3	M		c.(322-324)aCg>aTg		Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.							34	31	32					X																	49114015		2199	4298	6497	SO:0001583	missense	50943				B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase 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 corepressor activity|zinc ion binding	g.chrX:49114015G>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.323C>T	X.37:g.49114015G>A	ENSP00000365380:p.Thr108Met		Somatic				FOXP3_uc011mnc.2_Missense_Mutation_p.T108M|FOXP3_uc004dnf.4_Missense_Mutation_p.T108M|FOXP3_uc004dne.4_Missense_Mutation_p.T73M|FOXP3_uc022bwa.1_Missense_Mutation_p.T58M	p.T108M	NM_014009	NP_054728	WXS	Illumina GAIIx	Phase_I	Q9BZS1	FOXP3_HUMAN			2	345	-	Ovarian(276;0.236)		108					A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.323C>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	G	8.651	0.898233	0.17686	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98550	-3.72;-4.01;-4.98;-4.01;-4.99;-4.18	5.33	3.4	0.38934	.	0.500579	0.18737	N	0.132552	D	0.92348	0.7572	N	0.19112	0.55	0.09310	N	1	B;B;P;B;B	0.38167	0.037;0.111;0.621;0.037;0.063	B;B;B;B;B	0.21360	0.009;0.023;0.034;0.009;0.032	D	0.88156	0.2854	10	0.87932	D	0	.	4.7924	0.13256	0.1097:0.0:0.6143:0.2759	.	108;108;73;108;73	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	M	108;73;73;73;58;108	ENSP00000365380:T108M;ENSP00000365372:T73M;ENSP00000451208:T73M;ENSP00000428952:T73M;ENSP00000365369:T58M;ENSP00000396415:T108M	ENSP00000365369:T58M	T	-	2	0	FOXP3	49000959	0.018000	0.18449	0.128000	0.21923	0.724000	0.41520	2.123000	0.41996	0.971000	0.38288	0.506000	0.49869	ACG		0.677	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009		3	29	0	0	0	1	0	3	29					A	49114015	G	A	49114015	3	1	307	1	0	0	0	0	1	0	0	0	6028	1145	40	1	1008	1	FOXP3	23	49114015	Missense_Mutation	SNP	G	TCGA-ET-A2N4-01A-12D-A19J-08		49114015	106156545	28	5408											
BEST4	266675	broad.mit.edu	37	1	45250578	45250578	+	Splice_Site	SNP	T	T	C	rs201994250		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:45250578T>C	ENST00000372207.3	-	7	991	c.992A>G	c.(991-993)cAg>cGg	p.Q331R		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	331			Q -> E (in dbSNP:rs16832241).			chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTTGCTCACCTGCAAGTTGCG	0.577																																						uc001cmm.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.e7+1		Homo sapiens bestrophin 4 (BEST4), mRNA.							74	80	78					1																	45250578		2203	4300	6503	SO:0001630	splice_region_variant	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45250578T>C	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17106	protein-coding gene	gene with protein product		607336	"vitelliform macular dystrophy 2-like 2"	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.993+1A>G	1.37:g.45250578T>C			Somatic					p.Q331_splice	NM_153274	NP_695006	WXS	Illumina GAIIx	Phase_I	Q8NFU0	BEST4_HUMAN			7	1042	-	Acute lymphoblastic leukemia(166;0.155)		331		Q -> E (in dbSNP:rs16832241).			Q5JR93	Splice_Site	SNP	ENST00000372207.3	37	c.993_splice	CCDS514.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048928	0.93740	.	.	ENSG00000142959	ENST00000372207	D	0.98455	-4.94	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.87682	2.9	0.80722	D	1	D	0.64830	0.994	D	0.71656	0.974	D	0.99486	1.0949	10	0.56958	D	0.05	-32.1374	14.0104	0.64493	0.0:0.0:0.0:1.0	.	331	Q8NFU0	BEST4_HUMAN	R	331	ENSP00000361281:Q331R	ENSP00000361281:Q331R	Q	-	2	0	BEST4	45023165	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.976000	0.63785	2.168000	0.68352	0.533000	0.62120	CAG		0.577	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274	Missense_Mutation	3	73	0	0	0	1	0	3	73					C	45250578	T	C	45250578	5	2	308	1	0	0	0	0	0	0	1	0	1407	1594	55	3	441	3	BEST4	1	45250578	Splice_Site	SNP	T	TCGA-ET-A2N5-01A-11D-A18F-08		45250578	204000043	1	5409											
AMPD1	270	broad.mit.edu	37	1	115222322	115222322	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:115222322A>G	ENST00000520113.2	-	7	889	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	AMPD1_ENST00000369538.3_Missense_Mutation_p.Y288H|AMPD1_ENST00000353928.6_Missense_Mutation_p.Y259H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	292					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CGGTGGGTATAGGTCTTACTG	0.413																																						uc001efe.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(874-876)Tat>Cat		Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						86	93	91					1																	115222322		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222322A>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.874T>C	1.37:g.115222322A>G	ENSP00000430075:p.Tyr292His		Somatic				AMPD1_uc001eff.2_Missense_Mutation_p.Y288H	p.Y292H	NM_000036	NP_000027	WXS	Illumina GAIIx	Phase_I	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	922	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	259					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.874T>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939604	0.92526	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91180	-2.8;-2.8;-2.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.99	D	0.95674	0.8726	10	0.87932	D	0	-19.1683	16.1485	0.81594	1.0:0.0:0.0:0.0	.	288;259	Q5TF02;P23109	.;AMPD1_HUMAN	H	292;288;259	ENSP00000430075:Y292H;ENSP00000358551:Y288H;ENSP00000316520:Y259H	ENSP00000316520:Y259H	Y	-	1	0	AMPD1	115023845	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	9.287000	0.95975	2.281000	0.76405	0.533000	0.62120	TAT		0.413	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			3	114	0	0	0	1	0	3	114					G	115222322	A	G	115222322	3	3	308	1	0	0	0	0	1	0	0	0	585	420	15	3	1508	3	AMPD1	1	115222322	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08	69971744	115222322	134028299	2	5410											
EPHA6	285220	broad.mit.edu	37	3	97467477	97467477	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:97467477A>G	ENST00000389672.5	+	18	3363	c.3325A>G	c.(3325-3327)Ata>Gta	p.I1109V		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1015						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGAGACGAATAGTCAGCAG	0.428																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(3325-3327)Ata>Gta		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							114	105	108					3																	97467477		1961	4158	6119	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97467477A>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3325A>G	3.37:g.97467477A>G	ENSP00000374323:p.Ile1109Val		Somatic					p.I1109V	NM_001080448	NP_001073917	WXS	Illumina GAIIx	Phase_I	Q9UF33	EPHA6_HUMAN			17	3368	+			1014					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.3325A>G	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056769	0.76074	.	.	ENSG00000080224	ENST00000389672	T	0.67865	-0.29	5.44	5.44	0.79542	.	.	.	.	.	T	0.81847	0.4909	M	0.86097	2.795	0.80722	D	1	.	.	.	.	.	.	D	0.85161	0.0992	7	0.72032	D	0.01	.	15.4974	0.75666	1.0:0.0:0.0:0.0	.	.	.	.	V	1109	ENSP00000374323:I1109V	ENSP00000374323:I1109V	I	+	1	0	EPHA6	98950167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.062000	0.61559	0.528000	0.53228	ATA		0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		3	31	0	0	0	1	0	3	31					G	97467477	A	G	97467477	3	3	308	1	0	0	0	0	1	0	0	0	5171	101	4	3	3512	3	EPHA6	3	97467477	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		97467477	100554953	3	5411											
SOX2	6657	broad.mit.edu	37	3	181430265	181430265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:181430265delC	ENST00000325404.1	+	1	544	c.117delC	c.(115-117)gacfs	p.D39fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.D39fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	39					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACAGCCCGGACCGCGTCAAGC	0.687			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															uc003fkx.3				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"NSCLC, oesophageal squamous carcinoma"		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(115-117)gacfs		Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.							20	23	22					3																	181430265		2203	4299	6502	SO:0001589	frameshift_variant	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430265delC	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.117delC	3.37:g.181430265delC	ENSP00000323588:p.Asp39fs		Somatic				SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	p.D39fs	NM_003106	NP_003097	WXS	Illumina GAIIx	Phase_I	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		0	554	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		39					Q14537	Frame_Shift_Del	DEL	ENST00000325404.1	37	c.117delC	CCDS3239.1																																																																																				0.687	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		19	12						19	12	---	---	---	---	-	181430265	C	-	181430265	7	5	308	1	0	1	0	1	0	0	0	0	14949	506	18	0	119	0	SOX2	3	181430265	Frame_Shift_Del	DEL	C	TCGA-ET-A2N5-01A-11D-A18F-08	83962788	181430265	16592165	4	5412											
CLCN2	1181	broad.mit.edu	37	3	184071569	184071569	+	Missense_Mutation	SNP	C	C	T	rs201130753		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:184071569C>T	ENST00000265593.4	-	16	1907	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.R535H|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R579H|CLCN2_ENST00000344937.7_Missense_Mutation_p.R562H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	579					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTCCTCCACACGCACCCGGTA	0.642													C|||	0	0	0	0	5008	,	,		19015	0		0	False		,,,				2504	0					uc003foi.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1735-1737)cGt>cAt		Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	Lubiprostone(DB01046)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	39	38	38		1685,1604,1736,1736	5.0	1.0	3		38	0,8596		0,0,4298	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	29,29,29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	562/882,535/855,579/870,579/899	184071569	1,13001	2203	4298	6501	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071569C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1736G>A	3.37:g.184071569C>T	ENSP00000265593:p.Arg579His		Somatic				CLCN2_uc003foh.3_Missense_Mutation_p.R103H|CLCN2_uc010hya.2_Missense_Mutation_p.R562H|CLCN2_uc011brl.2_Missense_Mutation_p.R579H|CLCN2_uc011brm.2_Missense_Mutation_p.R535H	p.R579H	NM_004366	NP_004357	WXS	Illumina GAIIx	Phase_I	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1860	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		579					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1736G>A	CCDS3263.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	19.00	3.741843	0.69304	2.27E-4	0.0	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	L	0.58810	1.83	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.978;1.0;0.935	D;D;P;D;B	0.91635	0.999;0.994;0.566;0.994;0.233	D	0.91969	0.5585	10	0.33940	T	0.23	-6.0491	17.9227	0.88972	0.0:1.0:0.0:0.0	.	535;579;562;579;535	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	H	579;562;535;579	ENSP00000265593:R579H;ENSP00000345056:R562H;ENSP00000400425:R535H;ENSP00000391928:R579H	ENSP00000265593:R579H	R	-	2	0	CLCN2	185554263	0.919000	0.31177	1.000000	0.80357	0.978000	0.69477	3.116000	0.50399	2.320000	0.78422	0.563000	0.77884	CGT		0.642	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			3	11	0	0	0	1	0	3	11					T	184071569	C	T	184071569	3	4	308	1	0	0	0	0	1	0	0	0	3463	536	19	1	996	1	CLCN2	3	184071569	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	2641304	184071569	13950861	5	5413											
WHSC2	7469	broad.mit.edu	37	4	1985181	1985181	+	Silent	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:1985181C>T	ENST00000411638.2	-	11	1467	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	NELFA_ENST00000542778.1_Silent_p.E349E|NELFA_ENST00000382882.3_Silent_p.E495E|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	484					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|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)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCTCCGTGTGCTCGCTCAGCT	0.642																																						uc003gem.3																			0				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18						c.(1483-1485)gaG>gaA		Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.							183	164	170					4																	1985181		2203	4300	6503	SO:0001819	synonymous_variant	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985181C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1452G>A	4.37:g.1985181C>T			Somatic				WHSC2_uc003gek.3_Silent_p.E221E|WHSC2_uc003gel.3_Silent_p.E409E|WHSC2_uc003gen.3_Silent_p.E349E	p.E495E	NM_005663	NP_005654	WXS	Illumina GAIIx	Phase_I	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		10	1728	-			484					A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1485G>A																																																																																					0.642	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		4	150	0	0	0	1	0	4	150					T	1985181	C	T	1985181	2	4	308	1	0	0	0	0	0	0	0	1	17361	796	28	2		2	WHSC2	4	1985181	Silent	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08		1985181	189169095	6	5414											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		38	58	0	0	0	1	0	38	58					C	533874	T	C	533874	3	2	308	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-ET-A2N5-01A-11D-A18F-08		533874	134472642	7	5415											
PTPRB	5787	broad.mit.edu	37	12	70948968	70948968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr12:70948968G>T	ENST00000261266.5	-	18	4490	c.4461C>A	c.(4459-4461)taC>taA	p.Y1487*	PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Y1617*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.Y1705*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Y1397*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1487	Fibronectin type-III 17. {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)			CCACTGTGAAGTATTTCACAG	0.443																																						uc001swc.4																			0		p.S1704F(1)		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.(5113-5115)taC>taA		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.							101	96	98					12																	70948968		1954	4169	6123	SO:0001587	stop_gained	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70948968G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4461C>A	12.37:g.70948968G>T	ENSP00000261266:p.Tyr1487*		Somatic				PTPRB_uc001swb.4_Nonsense_Mutation_p.Y1487*|PTPRB_uc010sto.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc010stp.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc001swa.4_Nonsense_Mutation_p.Y1617*	p.Y1705*	NM_001109754	NP_001103224	WXS	Illumina GAIIx	Phase_I	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)		19	5160	-	Renal(347;0.236)		1487			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.5115C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	43	10.191832	0.99355	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.8	2.93	0.34026	.	0.056861	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9624	0.35856	0.2825:0.0:0.7175:0.0	.	.	.	.	X	1705;1397;1617;1397;1397;1487	.	ENSP00000261266:Y1487X	Y	-	3	2	PTPRB	69235235	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.229000	0.51278	0.333000	0.23563	-0.670000	0.03821	TAC		0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			28	46	0	0	0	1	0	28	46					T	70948968	G	T	70948968	4	4	308	1	0	0	0	0	0	1	0	0	12796	1024	36	4	1592	4	PTPRB	12	70948968	Nonsense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		70948968	62902927	8	5416											
ZFP90	146198	broad.mit.edu	37	16	68598529	68598529	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr16:68598529A>T	ENST00000570495.1	+	5	2131	c.1839A>T	c.(1837-1839)gaA>gaT	p.E613D	ZFP90_ENST00000563169.2_Missense_Mutation_p.E613D|ZFP90_ENST00000398253.2_Missense_Mutation_p.E613D			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	613					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTGTAAGGAATGTGGGAAAA	0.383																																						uc010cff.3																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1837-1839)gaA>gaT		Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.							80	89	86					16																	68598529		2113	4270	6383	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598529A>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1839A>T	16.37:g.68598529A>T	ENSP00000460547:p.Glu613Asp		Somatic				ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E613D|ZFP90_uc002ewe.3_Missense_Mutation_p.E613D	p.E613D	NM_133458	NP_597715	WXS	Illumina GAIIx	Phase_I	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	4	2131	+		Ovarian(137;0.192)	613					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1839A>T	CCDS42183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.00|12.00	1.806532|1.806532	0.31961|0.31961	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000398253|ENST00000327567	T|.	0.07444|.	3.19|.	5.64|5.64	3.34|3.34	0.38264|0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.37489|0.37489	0.1005|0.1005	L|L	0.35723|0.35723	1.085|1.085	0.25075|0.25075	N|N	0.990967|0.990967	P|.	0.39216|.	0.664|.	B|.	0.42343|.	0.384|.	T|T	0.21930|0.21930	-1.0231|-1.0231	9|6	0.36615|0.42905	T|T	0.2|0.14	-15.8748|-15.8748	8.8401|8.8401	0.35137|0.35137	0.8424:0.0:0.1576:0.0|0.8424:0.0:0.1576:0.0	.|.	613|.	Q8TF47|.	ZFP90_HUMAN|.	D|I	613|86	ENSP00000381304:E613D|.	ENSP00000381304:E613D|ENSP00000329859:N86I	E|N	+|+	3|2	2|0	ZFP90|ZFP90	67156030|67156030	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-0.782000|-0.782000	0.04643|0.04643	0.480000|0.480000	0.27534|0.27534	0.454000|0.454000	0.30748|0.30748	GAA|AAT		0.383	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		52	69	0	0	0	1	0	52	69					T	68598529	A	T	68598529	3	4	308	1	0	0	0	0	1	0	0	0	17651	98	4	5	1853	5	ZFP90	16	68598529	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		68598529	21756224	9	5417											
GPR179	440435	broad.mit.edu	37	17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr17:36484690C>T	ENST00000342292.4	-	11	4782	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1588					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTTTTGGCAGGTGTTGCT	0.502																																						uc002hpz.3																			0		p.P1587P(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4762-4764)Gcc>Acc		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							152	151	151					17																	36484690		2004	4187	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484690C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4762G>A	17.37:g.36484690C>T	ENSP00000345060:p.Ala1588Thr		Somatic					p.A1588T	NM_001004334	NP_001004334	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			10	4783	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1588						Missense_Mutation	SNP	ENST00000342292.4	37	c.4762G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487981	0.44249	.	.	ENSG00000188888	ENST00000342292	T	0.54279	0.58	4.62	2.5	0.30297	.	0.549164	0.15311	N	0.269065	T	0.39384	0.1076	L	0.46614	1.455	0.09310	N	1	P	0.36222	0.544	B	0.30251	0.113	T	0.32903	-0.9889	10	0.59425	D	0.04	-2.0323	6.8916	0.24232	0.1781:0.7267:0.0:0.0952	.	1588	Q6PRD1	GP179_HUMAN	T	1588	ENSP00000345060:A1588T	ENSP00000345060:A1588T	A	-	1	0	GPR179	33738216	0.000000	0.05858	0.008000	0.14137	0.259000	0.26198	0.618000	0.24373	1.089000	0.41292	0.313000	0.20887	GCC		0.502	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	159	0	0	0	1	0	5	159					T	36484690	C	T	36484690	3	4	308	1	0	0	0	0	1	0	0	0	6674	710	25	2	2345	2	GPR179	17	36484690	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08		36484690	44710520	10	5418											
ZNF491	126069	broad.mit.edu	37	19	11917928	11917928	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:11917928A>G	ENST00000323169.5	+	3	1491	c.1160A>G	c.(1159-1161)cAt>cGt	p.H387R	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAATGTAAGCATTGTGGGAAA	0.393																																						uc002mso.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(1159-1161)cAt>cGt		Homo sapiens zinc finger protein 491 (ZNF491), mRNA.							51	56	55					19																	11917928		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917928A>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1160A>G	19.37:g.11917928A>G	ENSP00000313443:p.His387Arg		Somatic				ZNF491_uc021upj.1_Missense_Mutation_p.H387R	p.H387R	NM_152356	NP_689569	WXS	Illumina GAIIx	Phase_I	Q8N8L2	ZN491_HUMAN			2	1445	+			387					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.1160A>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	3.287	-0.145792	0.06627	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.18810	2.19	0.981	0.981	0.19756	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19366	0.0465	L	0.49778	1.585	0.09310	N	1	B	0.12630	0.006	B	0.19666	0.026	T	0.27434	-1.0074	9	0.66056	D	0.02	.	7.5236	0.27643	1.0:0.0:0.0:0.0	.	387	Q8N8L2	ZN491_HUMAN	R	387;359	ENSP00000313443:H387R	ENSP00000313443:H387R	H	+	2	0	ZNF491	11778928	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.036000	0.12185	0.710000	0.31997	0.414000	0.27820	CAT		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		27	36	0	0	0	1	0	27	36					G	11917928	A	G	11917928	3	3	308	1	0	0	0	0	1	0	0	0	17939	217	8	3	1162	3	ZNF491	19	11917928	Missense_Mutation	SNP	A	TCGA-ET-A2N5-01A-11D-A18F-08		11917928	47211055	11	5419											
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1299					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557			"F, N, Mis"		"MDS, CMML"																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0		p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3895-3897)gGc>gAc		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.							67	66	66					20																	31024411		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024411G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3896G>A	20.37:g.31024411G>A	ENSP00000364839:p.Gly1299Asp		Somatic				ASXL1_uc002wxs.3_Missense_Mutation_p.G1298D|ASXL1_uc010geb.3_Missense_Mutation_p.G1190D	p.G1299D	NM_015338	NP_056153	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			12	4328	+			1299					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3896G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	ASXL1	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC		0.557	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		27	48	0	0	0	1	0	27	48					A	31024411	G	A	31024411	3	1	308	1	0	0	0	0	1	0	0	0	1066	1203	42	2	3952	2	ASXL1	20	31024411	Missense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		31024411	32001109	12	5420											
CEP250	11190	broad.mit.edu	37	20	34087927	34087927	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:34087927C>T	ENST00000397527.1	+	28	4547	c.3827C>T	c.(3826-3828)aCt>aTt	p.T1276I	CEP250_ENST00000342580.4_Missense_Mutation_p.T1220I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1276	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTAACTGATACTGAGGCTGAG	0.512																																						uc021wco.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3826-3828)aCt>aTt		Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.							133	120	125					20																	34087927		2203	4300	6503	SO:0001583	missense	11190				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34087927C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3827C>T	20.37:g.34087927C>T	ENSP00000380661:p.Thr1276Ile		Somatic				CEP250_uc010zve.2_Missense_Mutation_p.T644I	p.T1276I	NM_007186	NP_009117	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		27	4474	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1276			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.3827C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747258	0.15710	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10099	2.91;2.91	5.18	0.744	0.18353	.	1.144410	0.06348	N	0.709438	T	0.11537	0.0281	M	0.63428	1.95	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42413	-0.9453	10	0.20519	T	0.43	.	4.8403	0.13487	0.0:0.4944:0.1466:0.359	.	1276	Q9BV73	CP250_HUMAN	I	1276;1220	ENSP00000380661:T1276I;ENSP00000341541:T1220I	ENSP00000341541:T1220I	T	+	2	0	CEP250	33551341	0.001000	0.12720	0.001000	0.08648	0.965000	0.64279	0.649000	0.24843	0.015000	0.14971	0.655000	0.94253	ACT		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		45	65	0	0	0	1	0	45	65					T	34087927	C	T	34087927	3	4	308	1	0	0	0	0	1	0	0	0	3252	565	20	2	3925	2	CEP250	20	34087927	Missense_Mutation	SNP	C	TCGA-ET-A2N5-01A-11D-A18F-08	3063516	34087927	28937593	13	5421											
BCAP31	10134	broad.mit.edu	37	X	152986357	152986357	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chrX:152986357G>A	ENST00000345046.6	-	3	570	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	BCAP31_ENST00000458587.2_Missense_Mutation_p.L122F|BCAP31_ENST00000441714.1_Missense_Mutation_p.L55F|BCAP31_ENST00000468947.1_5'UTR	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	55					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGACAATGAGAACCACAAAG	0.502																																						uc004fid.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(364-366)Ctc>Ttc		Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA.							201	140	161					X																	152986357		2203	4300	6503	SO:0001583	missense	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane	receptor binding	g.chrX:152986357G>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.163C>T	X.37:g.152986357G>A	ENSP00000343458:p.Leu55Phe		Somatic				BCAP31_uc011myz.1_Missense_Mutation_p.L55F|BCAP31_uc011mza.1_Missense_Mutation_p.L55F|BCAP31_uc004fie.2_Missense_Mutation_p.L55F	p.L122F	NM_001139457	NP_005736	WXS	Illumina GAIIx	Phase_I	P51572	BAP31_HUMAN			2	794	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		55					B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	c.364C>T	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138458	0.77775	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.77	5.77	0.91146	.	0.195270	0.46758	D	0.000280	T	0.64560	0.2609	L	0.39692	1.235	0.44214	D	0.997048	D;P	0.56287	0.975;0.743	P;B	0.60609	0.877;0.248	T	0.57283	-0.7838	9	0.14656	T	0.56	-15.7073	17.5629	0.87912	0.0:0.0:1.0:0.0	.	55;122	P51572;B3KQ79	BAP31_HUMAN;.	F	55;55;122;122;55;55;55;55;55	.	ENSP00000343458:L55F	L	-	1	0	BCAP31	152639551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.634000	0.61325	2.418000	0.82041	0.600000	0.82982	CTC		0.502	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		7	70	0	0	0	1	0	7	70					A	152986357	G	A	152986357	3	1	308	1	0	0	0	0	1	0	0	0	1347	942	33	2	601	2	BCAP31	23	152986357	Missense_Mutation	SNP	G	TCGA-ET-A2N5-01A-11D-A18F-08		152986357	2284203	14	5422											
TCF7L1	83439	broad.mit.edu	37	2	85536172	85536172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr2:85536172A>T	ENST00000282111.3	+	12	1629	c.1354A>T	c.(1354-1356)Aag>Tag	p.K452*		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	452					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CTCCAAGAGCAAGAAGCCATG	0.602																																						uc002soy.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1354-1356)Aag>Tag		Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.							162	178	173					2																	85536172		2203	4300	6503	SO:0001587	stop_gained	83439				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536172A>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1354A>T	2.37:g.85536172A>T	ENSP00000282111:p.Lys452*		Somatic					p.K452*	NM_031283	NP_112573	WXS	Illumina GAIIx	Phase_I	Q9HCS4	TF7L1_HUMAN			11	1579	+			452					Q53R97|Q6PD70|Q9NP00	Nonsense_Mutation	SNP	ENST00000282111.3	37	c.1354A>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	A	38	7.182231	0.98118	.	.	ENSG00000152284	ENST00000282111	.	.	.	4.81	4.81	0.61882	.	0.218540	0.48286	D	0.000193	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3514	0.55151	1.0:0.0:0.0:0.0	.	.	.	.	X	452	.	ENSP00000282111:K452X	K	+	1	0	TCF7L1	85389683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.652000	0.74377	2.018000	0.59344	0.448000	0.29417	AAG		0.602	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		112	160	0	0	0	1	0	112	160					T	85536172	A	T	85536172	4	4	309	1	0	0	0	0	0	1	0	0	15694	131	5	5	1400	5	TCF7L1	2	85536172	Nonsense_Mutation	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08		85536172	157663201	1	5423											
KBTBD10	10324	broad.mit.edu	37	2	170367329	170367329	+	Silent	SNP	A	A	T			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr2:170367329A>T	ENST00000284669.1	+	1	1118	c.1041A>T	c.(1039-1041)atA>atT	p.I347I	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	347					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)											AAAATCAGATATATGTGGTAG	0.413																																						uc002ueu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						c.(1039-1041)atA>atT		Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.							88	91	90					2																	170367329		2203	4300	6503	SO:0001819	synonymous_variant	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170367329A>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1041A>T	2.37:g.170367329A>T			Somatic				KBTBD10_uc010zdh.1_Intron	p.I347I	NM_006063	NP_006054	WXS	Illumina GAIIx	Phase_I	O60662	KBTBA_HUMAN			0	1118	+			347					Q53R42	Silent	SNP	ENST00000284669.1	37	c.1041A>T	CCDS2234.1																																																																																				0.413	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		16	85	0	0	0	1	0	16	85					T	170367329	A	T	170367329	2	4	309	1	0	0	0	0	0	0	0	1	7990	439	16	5		5	KBTBD10	2	170367329	Silent	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08	84831157	170367329	72832044	2	5424											
ZNF148	7707	broad.mit.edu	37	3	124951687	124951687	+	Missense_Mutation	SNP	A	A	C			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr3:124951687A>C	ENST00000360647.4	-	9	2368	c.1883T>G	c.(1882-1884)cTt>cGt	p.L628R	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.L628R|ZNF148_ENST00000492394.1_Missense_Mutation_p.L628R|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.L628R	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	628					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CACAAAGTTAAGGCTCGGGCT	0.453																																						uc003ehx.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1882-1884)cTt>cGt		Homo sapiens zinc finger protein 148 (ZNF148), mRNA.							160	173	169					3																	124951687		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951687A>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1883T>G	3.37:g.124951687A>C	ENSP00000353863:p.Leu628Arg		Somatic				SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.L628R|ZNF148_uc010hsa.3_Missense_Mutation_p.L628R|ZNF148_uc003eia.4_Missense_Mutation_p.L628R|ZNF148_uc003ehy.3_Intron	p.L628R	NM_021964	NP_068799	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			8	2369	-			628					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1883T>G	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652694	0.47362	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.7	4.7	0.59300	.	0.124909	0.56097	D	0.000034	T	0.54919	0.1888	L	0.47716	1.5	0.80722	D	1	D	0.54601	0.967	P	0.49799	0.622	T	0.59716	-0.7402	10	0.59425	D	0.04	-9.609	14.3312	0.66559	1.0:0.0:0.0:0.0	.	628	Q9UQR1	ZN148_HUMAN	R	628	ENSP00000353863:L628R;ENSP00000420335:L628R;ENSP00000419322:L628R;ENSP00000420448:L628R	ENSP00000353863:L628R	L	-	2	0	ZNF148	126434377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	1.955000	0.56771	0.482000	0.46254	CTT		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		28	162	0	0	0	1	0	28	162					C	124951687	A	C	124951687	3	2	309	1	0	0	0	0	1	0	0	0	17731	72	3	5	505	5	ZNF148	3	124951687	Missense_Mutation	SNP	A	TCGA-ET-A39I-01A-11D-A19J-08		124951687	73070743	3	5425											
MEPCE	56257	broad.mit.edu	37	7	100028059	100028059	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr7:100028059C>T	ENST00000310512.2	+	1	806	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_Intron|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	140	Gly-rich.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGCCCCACCGGCCACCTGG	0.706																																						uc003uuw.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(418-420)Cgg>Tgg		Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.							9	12	11					7																	100028059		1367	2907	4274	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028059C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.418C>T	7.37:g.100028059C>T	ENSP00000308546:p.Arg140Trp		Somatic				ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_Intron	p.R140W	NM_019606	NP_062552	WXS	Illumina GAIIx	Phase_I	Q7L2J0	MEPCE_HUMAN			0	806	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		140			Gly-rich.		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.418C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303377	0.60195	.	.	ENSG00000146834	ENST00000310512	.	.	.	5.26	3.06	0.35304	.	0.241298	0.33691	N	0.004649	T	0.18087	0.0434	N	0.22421	0.69	0.30935	N	0.726504	P	0.35011	0.48	B	0.23852	0.049	T	0.17258	-1.0375	9	0.72032	D	0.01	-0.0517	4.8212	0.13392	0.3346:0.5524:0.0:0.113	.	140	Q7L2J0	MEPCE_HUMAN	W	140	.	ENSP00000308546:R140W	R	+	1	2	MEPCE	99865995	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.811000	0.27198	1.161000	0.42604	0.561000	0.74099	CGG		0.706	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	9	0	0	0	1	0	4	9					T	100028059	C	T	100028059	3	4	309	1	0	0	0	0	1	0	0	0	9477	643	23	1	420	1	MEPCE	7	100028059	Missense_Mutation	SNP	C	TCGA-ET-A39I-01A-11D-A19J-08		100028059	59110604	4	5426											
ZNF777	27153	broad.mit.edu	37	7	149129526	149129526	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr7:149129526G>A	ENST00000247930.4	-	6	2160	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	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)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCGTGCTTGGGGTTGAACGTG	0.672																																						uc003wfv.3																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1837-1839)Ccc>Tcc		Homo sapiens zinc finger protein 777 (ZNF777), mRNA.							63	74	70					7																	149129526		2165	4265	6430	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129526G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1837C>T	7.37:g.149129526G>A	ENSP00000247930:p.Pro613Ser		Somatic					p.P613S	NM_015694	NP_056509	WXS	Illumina GAIIx	Phase_I	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	2000	-	Melanoma(164;0.165)		613					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1837C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752617	0.15778	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05786	3.39	5.02	4.13	0.48395	.	0.268702	0.26808	N	0.022385	T	0.02012	0.0063	N	0.00554	-1.385	0.33424	D	0.580264	B	0.02656	0.0	B	0.06405	0.002	T	0.26224	-1.0109	10	0.26408	T	0.33	-18.0322	11.2172	0.48833	0.0902:0.0:0.9098:0.0	.	613	Q9ULD5-2	.	S	613;356	ENSP00000247930:P613S	ENSP00000247930:P613S	P	-	1	0	ZNF777	148760459	0.932000	0.31603	0.996000	0.52242	0.590000	0.36582	1.146000	0.31589	1.109000	0.41680	0.460000	0.39030	CCC		0.672	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		42	66	0	0	0	1	0	42	66					A	149129526	G	A	149129526	3	1	309	1	0	0	0	0	1	0	0	0	18147	1232	43	2	662	2	ZNF777	7	149129526	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08	49101467	149129526	10009137	5	5427											
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-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)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		39	52	0	0	0	1	0	39	52					C	533874	T	C	533874	3	2	309	1	0	0	0	0	1	0	0	0	7348	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		533874	134472642	6	5428											
SLC24A6	80024	broad.mit.edu	37	12	113745553	113745553	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr12:113745553G>A	ENST00000552014.1	-	14	1869	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	SLC8B1_ENST00000546737.1_Missense_Mutation_p.R396W|SLC8B1_ENST00000553238.1_5'Flank|SLC8B1_ENST00000549069.1_5'Flank|SLC8B1_ENST00000550047.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.R452W			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	452					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TTGCTCAGCCGGAAGACCACA	0.642																																						uc001tvc.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1354-1356)Cgg>Tgg		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.							72	61	65					12																	113745553		2203	4300	6503	SO:0001583	missense	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113745553G>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"Solute carriers"	26175	protein-coding gene	gene with protein product		609841	"solute carrier family 24 (sodium/potassium/calcium exchanger), member 6", "solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1354C>T	12.37:g.113745553G>A	ENSP00000447091:p.Arg452Trp		Somatic				SLC24A6_uc001tuz.3_Missense_Mutation_p.R157W|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.R190W	p.R452W	NM_024959	NP_079235	WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			12	1564	-			452					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.1354C>T	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067826	0.55539	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63913	-0.07;-0.07;-0.07	4.35	3.45	0.39498	Sodium/calcium exchanger membrane region (1);	0.482508	0.22708	N	0.056613	T	0.55401	0.1918	L	0.49778	1.585	0.44282	D	0.997146	B;B	0.22983	0.078;0.009	B;B	0.21546	0.035;0.002	T	0.57063	-0.7875	10	0.62326	D	0.03	.	11.4676	0.50248	0.0:0.1354:0.7243:0.1403	.	452;157	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	W	452;452;396;396	ENSP00000447091:R452W;ENSP00000202831:R452W;ENSP00000450081:R396W	ENSP00000202831:R452W	R	-	1	2	SLC24A6	112229936	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.302000	0.43637	1.119000	0.41883	0.644000	0.83932	CGG		0.642	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		3	45	0	0	0	1	0	3	45					A	113745553	G	A	113745553	3	1	309	1	0	0	0	0	1	0	0	0	14470	1115	39	1	416	1	SLC24A6	12	113745553	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		113745553	20106342	7	5429											
ATG2B	55102	broad.mit.edu	37	14	96794755	96794755	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr14:96794755G>A	ENST00000359933.4	-	14	2985	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	698					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)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGTTTCTGTGGTTGAAGCAAG	0.358																																						uc001yfi.3																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2092-2094)Cca>Tca		Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.							151	141	144					14																	96794755		1884	4123	6007	SO:0001583	missense	55102							g.chr14:96794755G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2092C>T	14.37:g.96794755G>A	ENSP00000353010:p.Pro698Ser		Somatic					p.P698S	NM_018036	NP_060506	WXS	Illumina GAIIx	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	13	2457	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	698					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2092C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459517	0.63401	.	.	ENSG00000066739	ENST00000359933	T	0.11169	2.8	5.7	5.7	0.88788	.	0.084010	0.48767	U	0.000170	T	0.13372	0.0324	L	0.60455	1.87	0.54753	D	0.999989	P	0.42456	0.78	B	0.38106	0.265	T	0.03534	-1.1027	10	0.29301	T	0.29	.	15.3299	0.74200	0.0:0.1391:0.8609:0.0	.	698	Q96BY7	ATG2B_HUMAN	S	698	ENSP00000353010:P698S	ENSP00000353010:P698S	P	-	1	0	ATG2B	95864508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.620000	0.83070	2.692000	0.91855	0.591000	0.81541	CCA		0.358	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		10	51	0	0	0	1	0	10	51					A	96794755	G	A	96794755	3	1	309	1	0	0	0	0	1	0	0	0	1094	1261	44	2	4260	2	ATG2B	14	96794755	Missense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		96794755	10554785	8	5430											
BPTF	2186	broad.mit.edu	37	17	65941716	65941716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr17:65941716G>T	ENST00000321892.4	+	23	7331	c.7270G>T	c.(7270-7272)Gaa>Taa	p.E2424*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.E2424*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.E2285*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.E2298*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2424					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTCAGCCTGAAGTTCAGAC	0.582																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(6892-6894)Gaa>Taa		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							100	92	95					17																	65941716		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65941716G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7270G>T	17.37:g.65941716G>T	ENSP00000315454:p.Glu2424*		Somatic				BPTF_uc002jge.3_Nonsense_Mutation_p.E2424*|BPTF_uc021uca.1_Nonsense_Mutation_p.E98*|BPTF_uc002jgg.3_Nonsense_Mutation_p.E98*|BPTF_uc002jgh.3_5'Flank	p.E2298*	NM_182641	NP_872579	WXS	Illumina GAIIx	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		20	6953	+	all_cancers(12;6e-11)		2424					Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.6892G>T		.	.	.	.	.	.	.	.	.	.	G	46	12.354525	0.99660	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.5438	19.1013	0.93275	0.0:0.0:1.0:0.0	.	.	.	.	X	2298;2424;2424	.	ENSP00000307208:E2298X	E	+	1	0	BPTF	63372178	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.290000	0.51755	2.514000	0.84764	0.650000	0.86243	GAA		0.582	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		3	19	0	0	0	1	0	3	19					T	65941716	G	T	65941716	4	4	309	1	0	0	0	0	0	1	0	0	1495	1291	45	4	7360	4	BPTF	17	65941716	Nonsense_Mutation	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08		65941716	15253494	9	5431											
KIAA1632	57724	broad.mit.edu	37	18	43469775	43469775	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr18:43469775T>C	ENST00000282041.5	-	28	4974	c.4940A>G	c.(4939-4941)gAa>gGa	p.E1647G	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1647					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						GATCAAGTTTTCTGCATGTAC	0.398																																						uc002lbm.3																			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.(4939-4941)gAa>gGa		Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.							147	136	139					18																	43469775		1914	4139	6053	SO:0001583	missense	57724				autophagy			g.chr18:43469775T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4940A>G	18.37:g.43469775T>C	ENSP00000282041:p.Glu1647Gly		Somatic				EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.E201G|EPG5_uc002lbn.2_Missense_Mutation_p.E522G	p.E1647G	NM_020964	NP_066015	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			27	5040	-			1647					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4940A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.922120	0.92319	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.13901	2.55	6.02	6.02	0.97574	.	.	.	.	.	T	0.36826	0.0981	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05582	-1.0876	9	0.87932	D	0	-13.1792	16.5446	0.84426	0.0:0.0:0.0:1.0	.	1647	Q9HCE0	EPG5_HUMAN	G	1647;522	ENSP00000282041:E1647G	ENSP00000282041:E1647G	E	-	2	0	EPG5	41723773	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.703000	0.84585	2.311000	0.77944	0.533000	0.62120	GAA		0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		50	69	0	0	0	1	0	50	69					C	43469775	T	C	43469775	3	2	309	1	0	0	0	0	1	0	0	0	8249	1783	62	3	2867	3	KIAA1632	18	43469775	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		43469775	34607473	10	5432											
MLLT1	4298	broad.mit.edu	37	19	6230657	6230657	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr19:6230657T>C	ENST00000252674.7	-	4	507	c.344A>G	c.(343-345)aAc>aGc	p.N115S		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	115					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GCGCAGGTGGTTCACGGGCGG	0.617			T	MLL	AL																																	uc002mek.3				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0		p.V114M(1)|p.N115K(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(343-345)aAc>aGc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.							168	168	168					19																	6230657		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230657T>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.344A>G	19.37:g.6230657T>C	ENSP00000252674:p.Asn115Ser		Somatic					p.N115S	NM_005934	NP_005925	WXS	Illumina GAIIx	Phase_I	Q03111	ENL_HUMAN			3	508	-			115					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.344A>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329092	0.81690	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.69248	2.105	0.58432	D	0.999999	B	0.28783	0.222	B	0.37091	0.241	T	0.67233	-0.5722	9	0.54805	T	0.06	-55.4765	13.1576	0.59527	0.0:0.0:0.0:1.0	.	115	Q03111	ENL_HUMAN	S	115	.	ENSP00000252674:N115S	N	-	2	0	MLLT1	6181657	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	7.727000	0.84838	1.966000	0.57179	0.533000	0.62120	AAC		0.617	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		61	93	0	0	0	1	0	61	93					C	6230657	T	C	6230657	3	2	309	1	0	0	0	0	1	0	0	0	9625	1725	60	3	1371	3	MLLT1	19	6230657	Missense_Mutation	SNP	T	TCGA-ET-A39I-01A-11D-A19J-08		6230657	52898326	11	5433											
SLC6A16	28968	broad.mit.edu	37	19	49812977	49812977	+	Silent	SNP	G	G	A			TCGA-ET-A39I-01A-11D-A19J-08	TCGA-ET-A39I-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d	18c8e8c6-9edf-4421-869c-bb7d800c659e	g.chr19:49812977G>A	ENST00000335875.4	-	5	1048	c.807C>T	c.(805-807)gtC>gtT	p.V269V	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Silent_p.V269V	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	269					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGAAGGGCAGGACCAGACTGT	0.502																																						uc002pmz.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(805-807)gtC>gtT		Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.							84	85	85					19																	49812977		1964	4156	6120	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812977G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.807C>T	19.37:g.49812977G>A			Somatic				SLC6A16_uc002pna.3_Silent_p.V269V|MIR4324_uc021uxj.1_5'Flank	p.V269V	NM_014037	NP_054756	WXS	Illumina GAIIx	Phase_I	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	4	1041	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	269					Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.807C>T	CCDS42590.1																																																																																				0.502	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		23	43	0	0	0	1	0	23	43					A	49812977	G	A	49812977	2	1	309	1	0	0	0	0	0	0	0	1	14679	1161	41	2		2	SLC6A16	19	49812977	Silent	SNP	G	TCGA-ET-A39I-01A-11D-A19J-08	43582320	49812977	9316006	12	5434											
SPTA1	6708	broad.mit.edu	37	1	158583510	158583510	+	Splice_Site	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr1:158583510C>T	ENST00000368147.4	-	50	7170		c.e50+1		SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						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)					CTTGTTCCTACCTCCCTGGAT	0.493																																						uc001fst.1																			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.e50+1		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							67	66	66					1																	158583510		1942	4135	6077	SO:0001630	splice_region_variant	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.chr1:158583510C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6989+1G>A	1.37:g.158583510C>T			Somatic					p.R2330_splice	NM_003126	NP_003117	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			50	7188	-	all_hematologic(112;0.0378)		2330			EF-hand 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.6989_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965407	0.53507	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2641	0.87081	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156850134	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	6.900000	0.75687	2.661000	0.90470	0.650000	0.86243	.		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	27	43	0	0	0	1	0	27	43					T	158583510	C	T	158583510	5	4	310	1	0	0	0	0	0	0	1	0	15115	521	18	2	281	2	SPTA1	1	158583510	Splice_Site	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		158583510	90667111	1	5435											
IL1R1	3554	broad.mit.edu	37	2	102792036	102792036	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr2:102792036C>T	ENST00000410023.1	+	11	1552	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	IL1R1_ENST00000409288.1_Missense_Mutation_p.P412S|IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.P412S|IL1R1_ENST00000409929.1_Missense_Mutation_p.P381S|IL1R1_ENST00000409329.1_Missense_Mutation_p.P412S|IL1R1_ENST00000424272.1_Missense_Mutation_p.P412S			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	412	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)	TAAAGTCTTGCCTGAGGTCTT	0.413																																						uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1234-1236)Cct>Tct		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)						364	331	342					2																	102792036		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.chr2:102792036C>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1234C>T	2.37:g.102792036C>T	ENSP00000386380:p.Pro412Ser		Somatic				IL1R1_uc010fix.3_Missense_Mutation_p.P381S|IL1R1_uc002tbr.3_Missense_Mutation_p.P412S	p.P412S	NM_000877	NP_000868	WXS	Illumina GAIIx	Phase_I	P14778	IL1R1_HUMAN			10	1552	+			412			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1234C>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501176	0.85176	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.24	5.24	0.73138	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.051428	0.85682	D	0.000000	T	0.37865	0.1019	M	0.89287	3.02	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.41251	-0.9519	10	0.87932	D	0	.	19.1943	0.93681	0.0:1.0:0.0:0.0	.	381;412;412	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	S	381;412;412;268;412;412;412	ENSP00000386776:P381S;ENSP00000415366:P412S;ENSP00000387131:P412S;ENSP00000410461:P268S;ENSP00000386478:P412S;ENSP00000386380:P412S;ENSP00000233946:P412S	ENSP00000233946:P412S	P	+	1	0	IL1R1	102158468	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.608000	0.67654	2.607000	0.88179	0.563000	0.77884	CCT		0.413	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			116	193	0	0	0	1	0	116	193					T	102792036	C	T	102792036	3	4	310	1	0	0	0	0	1	0	0	0	7658	739	26	2	1268	2	IL1R1	2	102792036	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		102792036	140407337	2	5436											
SLC26A6	65010	broad.mit.edu	37	3	48668079	48668079	+	Silent	SNP	A	A	G			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr3:48668079A>G	ENST00000395550.2	-	10	1256	c.1209T>C	c.(1207-1209)tcT>tcC	p.S403S	SLC26A6_ENST00000337000.8_Silent_p.S296S|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000420764.2_Silent_p.S403S|SLC26A6_ENST00000383733.3_Silent_p.S403S|SLC26A6_ENST00000455886.2_Silent_p.S367S|SLC26A6_ENST00000358747.6_Silent_p.S382S			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	403					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CCAGGCTCCGAGACATAGAGC	0.617																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(11422-11424)tcT>tcC		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.							38	43	42					3																	48668079		1997	4166	6163	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	g.chr3:48668079A>G	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1209T>C	3.37:g.48668079A>G			Somatic				CELSR3_uc003cug.3_Silent_p.S382S|CELSR3_uc011bbp.2_Silent_p.S367S|CELSR3_uc010hke.3_Silent_p.S254S|CELSR3_uc003cuk.3_Silent_p.S296S|CELSR3_uc003cuh.3_Silent_p.S403S|CELSR3_uc003cui.3_Silent_p.S403S|CELSR3_uc003cuj.3_Silent_p.S403S	p.S3808S	NM_001407	NP_001398	WXS	Illumina GAIIx	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	45	11424	-			0					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	c.11424T>C	CCDS43087.1																																																																																				0.617	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		2	2	0	0	0	1	0	2	2					G	48668079	A	G	48668079	2	3	310	1	0	0	0	0	0	0	0	1	14521	291	11	3		3	SLC26A6	3	48668079	Silent	SNP	A	TCGA-ET-A39J-01A-11D-A19J-08		48668079	149354351	3	5437											
HAUS3	79441	broad.mit.edu	37	4	2241959	2241959	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr4:2241959G>C	ENST00000243706.4	-	2	944	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q239E|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.Q239E	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	239					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTAAAAGTTGAAAATTGTCT	0.373																																						uc003ges.1																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(715-717)Caa>Gaa		Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.							61	61	61					4																	2241959		2203	4298	6501	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle		g.chr4:2241959G>C	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.715C>G	4.37:g.2241959G>C	ENSP00000243706:p.Gln239Glu		Somatic				POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.Q239E|HAUS3_uc003get.1_Missense_Mutation_p.Q239E	p.Q239E	NM_024511	NP_078787	WXS	Illumina GAIIx	Phase_I	Q68CZ6	HAUS3_HUMAN			1	945	-			239					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.715C>G	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630464	0.46944	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.42900	0.96;0.96	5.29	5.29	0.74685	.	0.073993	0.56097	U	0.000033	T	0.43344	0.1243	L	0.56396	1.775	0.48395	D	0.99964	P;P	0.42078	0.77;0.77	B;B	0.41691	0.364;0.237	T	0.30679	-0.9970	10	0.33940	T	0.23	-21.1387	15.4864	0.75571	0.0:0.1386:0.8614:0.0	.	239;239	B4DF64;Q68CZ6	.;HAUS3_HUMAN	E	239	ENSP00000243706:Q239E;ENSP00000392903:Q239E	ENSP00000243706:Q239E	Q	-	1	0	HAUS3	2211757	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	6.260000	0.72502	2.612000	0.88384	0.655000	0.94253	CAA		0.373	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		12	25	0	0	0	1	0	12	25					C	2241959	G	C	2241959	3	2	310	1	0	0	0	0	1	0	0	0	6967	1299	45	4	1112	4	HAUS3	4	2241959	Missense_Mutation	SNP	G	TCGA-ET-A39J-01A-11D-A19J-08		2241959	188912317	4	5438											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	43	0	0	0	1	0	39	43					T	140453136	A	T	140453136	3	4	310	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39J-01A-11D-A19J-08		140453136	18685527	5	5439											
CALHM2	51063	broad.mit.edu	37	10	105209325	105209325	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr10:105209325C>G	ENST00000260743.5	-	3	897	c.374G>C	c.(373-375)gGt>gCt	p.G125A	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.G125A|CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000393235.1_Missense_Mutation_p.G125A	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	125					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATAAGCCTCACCACGCAGCAG	0.612																																						uc001kxa.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(373-375)gGt>gCt		Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.							92	77	82					10																	105209325		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209325C>G	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.374G>C	10.37:g.105209325C>G	ENSP00000260743:p.Gly125Ala		Somatic				CALHM2_uc001kxc.3_Missense_Mutation_p.G125A|CALHM2_uc001kxb.3_Missense_Mutation_p.G125A|CALHM2_uc001kxd.1_Missense_Mutation_p.G125A	p.G125A	NM_015916	NP_057000	WXS	Illumina GAIIx	Phase_I	Q9HA72	CAHM2_HUMAN			2	985	-			125					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.374G>C	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835497	0.91117	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.34072	1.38;1.38;1.38	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.986	T	0.63404	-0.6645	10	0.42905	T	0.14	-34.8506	18.9703	0.92712	0.0:1.0:0.0:0.0	.	125;125;125	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	A	125	ENSP00000358803:G125A;ENSP00000260743:G125A;ENSP00000376927:G125A	ENSP00000260743:G125A	G	-	2	0	CALHM2	105199315	1.000000	0.71417	0.462000	0.27118	0.996000	0.88848	6.994000	0.76251	2.474000	0.83562	0.561000	0.74099	GGT		0.612	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		23	43	0	0	0	1	0	23	43					G	105209325	C	G	105209325	3	3	310	1	0	0	0	0	1	0	0	0	2583	507	18	4	605	4	CALHM2	10	105209325	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		105209325	30325422	6	5440											
DYNLL1	8655	broad.mit.edu	37	12	120934286	120934286	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr12:120934286C>T	ENST00000392509.2	+	2	323	c.62C>T	c.(61-63)tCg>tTg	p.S21L	DYNLL1_ENST00000548214.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000550178.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000552870.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000550845.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000392508.2_Missense_Mutation_p.S21L|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000549989.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000548342.1_Missense_Mutation_p.S21L|DYNLL1_ENST00000242577.6_Missense_Mutation_p.S21L	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	21					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACAGGACTCGGTGGAGTGC	0.557																																						uc001tyj.3																			0											c.(61-63)tCg>tTg		Homo sapiens dynein, light chain, LC8-type 1 (DYNLL1), transcript variant 1, mRNA.							112	109	110					12																	120934286		2203	4300	6503	SO:0001583	missense	8655				G2/M transition of mitotic cell cycle|actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding	g.chr12:120934286C>T	U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"Cytoplasmic dyneins"	15476	protein-coding gene	gene with protein product		601562	"dynein, cytoplasmic, light polypeptide 1"	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.62C>T	12.37:g.120934286C>T	ENSP00000376297:p.Ser21Leu		Somatic				LOC100506668_uc001tyk.2_5'Flank|DYNLL1_uc001tyl.3_Missense_Mutation_p.S21L|DYNLL1_uc001tym.3_Missense_Mutation_p.S21L	p.S21L	NM_001037494	NP_003737	WXS	Illumina GAIIx	Phase_I	P63167	DYL1_HUMAN			1	316	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		21					Q15701	Missense_Mutation	SNP	ENST00000392509.2	37	c.62C>T	CCDS9200.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562635	0.86335	.	.	ENSG00000088986	ENST00000392509;ENST00000549649;ENST00000548342;ENST00000242577;ENST00000548214;ENST00000392508;ENST00000550178;ENST00000550845;ENST00000549989;ENST00000552870	.	.	.	5.4	5.4	0.78164	.	0.054542	0.64402	D	0.000001	T	0.59046	0.2165	.	.	.	0.47094	D	0.999317	B	0.02656	0.0	B	0.10450	0.005	T	0.55231	-0.8173	8	0.56958	D	0.05	.	19.6014	0.95563	0.0:1.0:0.0:0.0	.	21	P63167	DYL1_HUMAN	L	21	.	ENSP00000242577:S21L	S	+	2	0	DYNLL1	119418669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.362000	0.79507	2.713000	0.92767	0.549000	0.68633	TCG		0.557	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403709.1	NM_003746		33	67	0	0	0	1	0	33	67					T	120934286	C	T	120934286	3	4	310	1	0	0	0	0	1	0	0	0	4848	893	31	1	64	1	DYNLL1	12	120934286	Missense_Mutation	SNP	C	TCGA-ET-A39J-01A-11D-A19J-08		120934286	12917609	7	5441											
SPTB	6710	broad.mit.edu	37	14	65266617	65266617	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ET-A39J-01A-11D-A19J-08	TCGA-ET-A39J-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d62899a1-d79f-4e88-b8d9-87a175bf7e67	32d1eddb-59f0-4a17-affb-eec3b4f2a652	g.chr14:65266617delA	ENST00000389721.5	-	8	944	c.912delT	c.(910-912)attfs	p.I304fs	SPTB_ENST00000389720.3_Frame_Shift_Del_p.I304fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.I304fs|SPTB_ENST00000556626.1_Frame_Shift_Del_p.I304fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.I304fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	304					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTACTTTTCAATCATCTTCT	0.498											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xhr.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(910-912)attfs		Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA.							157	140	146					14																	65266617		2203	4300	6503	SO:0001589	frameshift_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65266617delA		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.912delT	14.37:g.65266617delA	ENSP00000374371:p.Ile304fs		Somatic	OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	SPTB_uc001xhs.3_Frame_Shift_Del_p.I304fs|SPTB_uc001xht.3_Frame_Shift_Del_p.I304fs|SPTB_uc001xhu.3_Frame_Shift_Del_p.I304fs	p.I304fs	NM_001024858	NP_001020029	WXS	Illumina GAIIx	Phase_I	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	7	963	-		all_lung(585;4.15e-09)	304					Q15510|Q15519	Frame_Shift_Del	DEL	ENST00000389721.5	37	c.912delT	CCDS32100.1																																																																																				0.498	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			39	89						39	89	---	---	---	---	-	65266617	A	-	65266617	7	5	310	1	0	1	0	1	0	0	0	0	15117	126	5	0	6255	0	SPTB	14	65266617	Frame_Shift_Del	DEL	A	TCGA-ET-A39J-01A-11D-A19J-08		65266617	42082923	8	5442											
EFCAB7	84455	broad.mit.edu	37	1	63991290	63991290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr1:63991290C>A	ENST00000371088.4	+	2	293	c.47C>A	c.(46-48)tCa>tAa	p.S16*	ITGB3BP_ENST00000371092.3_5'Flank|ITGB3BP_ENST00000271002.10_5'Flank|ITGB3BP_ENST00000283568.8_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	16							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGTCAGAAATCAACACCTTCA	0.363																																						uc001dbf.3																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(46-48)tCa>tAa		Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.							75	81	79					1																	63991290		2203	4300	6503	SO:0001587	stop_gained	84455						calcium ion binding	g.chr1:63991290C>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"EF-hand domain containing"	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.47C>A	1.37:g.63991290C>A	ENSP00000360129:p.Ser16*		Somatic				ITGB3BP_uc001dbc.2_5'Flank|ITGB3BP_uc001dbb.2_5'Flank|ITGB3BP_uc001dba.2_5'Flank|ITGB3BP_uc009wak.1_5'Flank	p.S16*	NM_032437	NP_115813	WXS	Illumina GAIIx	Phase_I	A8K855	EFCB7_HUMAN			1	341	+			16					Q658P0|Q96B95|Q96JM6	Nonsense_Mutation	SNP	ENST00000371088.4	37	c.47C>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401080	0.62288	.	.	ENSG00000203965	ENST00000371088	.	.	.	4.89	4.89	0.63831	.	0.923115	0.09262	N	0.826340	.	.	.	.	.	.	0.22112	N	0.999355	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8019	13.6868	0.62522	0.0:0.846:0.154:0.0	.	.	.	.	X	16	.	ENSP00000360129:S16X	S	+	2	0	EFCAB7	63763878	0.236000	0.23804	0.012000	0.15200	0.151000	0.21798	1.601000	0.36773	2.238000	0.73509	0.556000	0.70494	TCA		0.363	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		10	89	0	0	0	1	0	10	89					A	63991290	C	A	63991290	4	1	311	1	0	0	0	0	0	1	0	0	4940	838	29	4	49	4	EFCAB7	1	63991290	Nonsense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		63991290	185259331	1	5443											
OSTC	58505	broad.mit.edu	37	4	109578625	109578625	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr4:109578625A>G	ENST00000361564.4	+	3	325	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	OSTC_ENST00000512478.2_Missense_Mutation_p.M85V	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	85					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACAATATATTATGGAAGGACT	0.338																																						uc003hzb.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(253-255)Atg>Gtg		Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.							49	47	48					4																	109578625		2203	4300	6503	SO:0001583	missense	58505					integral to membrane|oligosaccharyltransferase complex		g.chr4:109578625A>G	AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"DC2 protein"		"oligosaccharyltransferase complex subunit"			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.253A>G	4.37:g.109578625A>G	ENSP00000354676:p.Met85Val		Somatic					p.M85V	NM_021227	NP_067050	WXS	Illumina GAIIx	Phase_I	Q9NRP0	OSTC_HUMAN			2	324	+			85					A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	c.253A>G	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.029247	0.54790	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	T;T	0.75367	-0.93;-0.93	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	T	0.75072	0.3800	M	0.72118	2.19	0.80722	D	1	B	0.26935	0.164	B	0.33690	0.168	T	0.72469	-0.4284	9	.	.	.	.	14.7601	0.69600	1.0:0.0:0.0:0.0	.	85	Q9NRP0	OSTC_HUMAN	V	85	ENSP00000354676:M85V;ENSP00000426167:M85V	.	M	+	1	0	OSTC	109798074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.841000	0.92131	1.944000	0.56390	0.445000	0.29226	ATG		0.338	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227		6	57	0	0	0	1	0	6	57					G	109578625	A	G	109578625	3	3	311	1	0	0	0	0	1	0	0	0	11296	449	16	3	263	3	OSTC	4	109578625	Missense_Mutation	SNP	A	TCGA-ET-A39K-01A-11D-A19J-08		109578625	81575651	2	5444											
AHR	196	broad.mit.edu	37	7	17370506	17370506	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr7:17370506T>A	ENST00000242057.4	+	6	1344	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	234					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TCATCTGGTTTTCTGGTAAGG	0.353																																						uc011jxz.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(700-702)tTt>tAt		Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.							90	90	90					7																	17370506		2203	4299	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17370506T>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.701T>A	7.37:g.17370506T>A	ENSP00000242057:p.Phe234Tyr		Somatic					p.F234Y	NM_001621	NP_001612	WXS	Illumina GAIIx	Phase_I	P35869	AHR_HUMAN			5	1314	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		234					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.701T>A	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	T	35	5.427174	0.96131	.	.	ENSG00000106546	ENST00000242057	T	0.06608	3.28	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	M	0.90369	3.11	0.80722	D	1	P	0.36282	0.546	P	0.49085	0.6	T	0.01472	-1.1346	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	234	P35869	AHR_HUMAN	Y	234	ENSP00000242057:F234Y	ENSP00000242057:F234Y	F	+	2	0	AHR	17337031	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.942000	0.87708	2.279000	0.76181	0.533000	0.62120	TTT		0.353	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		13	17	0	0	0	1	0	13	17					A	17370506	T	A	17370506	3	1	311	1	0	0	0	0	1	0	0	0	416	1841	64	5	723	5	AHR	7	17370506	Missense_Mutation	SNP	T	TCGA-ET-A39K-01A-11D-A19J-08		17370506	141768157	3	5445											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	32	0	0	0	1	0	23	32					T	140453136	A	T	140453136	3	4	311	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39K-01A-11D-A19J-08	123082630	140453136	18685527	4	5446											
IFFO1	25900	broad.mit.edu	37	12	6664490	6664490	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr12:6664490G>T	ENST00000396840.2	-	1	747	c.706C>A	c.(706-708)Ccc>Acc	p.P236T	IFFO1_ENST00000336604.4_Missense_Mutation_p.P236T|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Missense_Mutation_p.P236T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	236						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGATCTCGGGCGTGATGGTG	0.662																																						uc010sfe.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(706-708)Ccc>Acc		Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.							104	105	105					12																	6664490		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6664490G>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.706C>A	12.37:g.6664490G>T	ENSP00000380052:p.Pro236Thr		Somatic				IFFO1_uc001qpc.2_Missense_Mutation_p.P236T|IFFO1_uc001qpf.2_Missense_Mutation_p.P236T|IFFO1_uc001qpe.2_Non-coding_Transcript	p.P236T	NM_001193457	NP_001180386	WXS	Illumina GAIIx	Phase_I	Q0D2I5	IFFO1_HUMAN			0	760	-			236					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.706C>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.277057	0.80580	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.70045	-0.45;-0.45;-0.45	4.03	3.13	0.36017	.	0.086406	0.45606	D	0.000348	T	0.67078	0.2855	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.46277	0.875;0.875;0.875;0.875	P;P;P;P	0.48654	0.585;0.585;0.585;0.585	T	0.66606	-0.5881	10	0.41790	T	0.15	-17.6435	11.3142	0.49381	0.0905:0.0:0.9095:0.0	.	236;236;236;236	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	T	236	ENSP00000337593:P236T;ENSP00000380052:P236T;ENSP00000349364:P236T	ENSP00000337593:P236T	P	-	1	0	IFFO1	6534751	1.000000	0.71417	0.940000	0.37924	0.961000	0.63080	8.958000	0.93099	1.031000	0.39867	0.561000	0.74099	CCC		0.662	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		6	116	0	0	0	1	0	6	116					T	6664490	G	T	6664490	3	4	311	1	0	0	0	0	1	0	0	0	7510	1203	42	4	1025	4	IFFO1	12	6664490	Missense_Mutation	SNP	G	TCGA-ET-A39K-01A-11D-A19J-08		6664490	127187405	5	5447											
FLOT2	2319	broad.mit.edu	37	17	27208390	27208390	+	Silent	SNP	C	C	T			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr17:27208390C>T	ENST00000394908.4	-	9	1022	c.918G>A	c.(916-918)gtG>gtA	p.V306V	FLOT2_ENST00000394906.2_Silent_p.V361V|FLOT2_ENST00000585169.1_Silent_p.V306V|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	306					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GGACCTGCTTCACCCTGGGGG	0.627																																						uc002hdc.3																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(916-918)gtG>gtA		Homo sapiens flotillin 2 (FLOT2), mRNA.							62	62	62					17																	27208390		2003	4159	6162	SO:0001819	synonymous_variant	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208390C>T	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.918G>A	17.37:g.27208390C>T			Somatic					p.V306V	NM_004475	NP_004466	WXS	Illumina GAIIx	Phase_I	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		8	1041	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		306						Silent	SNP	ENST00000394908.4	37	c.918G>A	CCDS11245.2																																																																																				0.627	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		8	79	0	0	0	1	0	8	79					T	27208390	C	T	27208390	2	4	311	1	0	0	0	0	0	0	0	1	5937	813	29	2		2	FLOT2	17	27208390	Silent	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		27208390	53986820	6	5448											
ARFGEF2	10564	broad.mit.edu	37	20	47626931	47626931	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chr20:47626931C>G	ENST00000371917.4	+	27	3747	c.3747C>G	c.(3745-3747)tgC>tgG	p.C1249W		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1249					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGACCACTTGCCACATTGTCA	0.507																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3745-3747)tgC>tgG		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							122	88	100					20																	47626931		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	g.chr20:47626931C>G	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3747C>G	20.37:g.47626931C>G	ENSP00000360985:p.Cys1249Trp		Somatic				ARFGEF2_uc010zyf.2_Missense_Mutation_p.C542W	p.C1249W	NM_006420	NP_006411	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		26	3899	+			1249					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3747C>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829168	0.32329	.	.	ENSG00000124198	ENST00000371917	T	0.65549	-0.16	5.18	4.24	0.50183	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.097898	0.64402	D	0.000001	T	0.46737	0.1408	L	0.29908	0.895	0.46849	D	0.999221	B	0.32128	0.357	B	0.34536	0.185	T	0.49652	-0.8917	10	0.72032	D	0.01	.	4.6855	0.12755	0.1448:0.5397:0.2362:0.0793	.	1249	Q9Y6D5	BIG2_HUMAN	W	1249	ENSP00000360985:C1249W	ENSP00000360985:C1249W	C	+	3	2	ARFGEF2	47060338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.011000	0.29911	1.327000	0.45338	0.655000	0.94253	TGC		0.507	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		26	45	0	0	0	1	0	26	45					G	47626931	C	G	47626931	3	3	311	1	0	0	0	0	1	0	0	0	853	747	26	4	3853	4	ARFGEF2	20	47626931	Missense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		47626931	15398589	7	5449											
FAM47A	158724	broad.mit.edu	37	X	34148211	34148211	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39K-01A-11D-A19J-08	TCGA-ET-A39K-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ea309c8-f103-4eec-a8bb-329c17387599	2b6cc855-e787-426f-9121-ddbcad17e997	g.chrX:34148211C>T	ENST00000346193.3	-	1	2236	c.2185G>A	c.(2185-2187)Gtt>Att	p.V729I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	729										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						TCGTCAAGAACGTCAGGTTCA	0.438																																						uc004ddg.3																			0		p.D728N(1)		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.(2185-2187)Gtt>Att		Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.							132	127	129					X																	34148211		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148211C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2185G>A	X.37:g.34148211C>T	ENSP00000345029:p.Val729Ile		Somatic					p.V729I	NM_203408	NP_981953	WXS	Illumina GAIIx	Phase_I	Q5JRC9	FA47A_HUMAN			0	2237	-			729					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2185G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.563197	0.00134	.	.	ENSG00000185448	ENST00000346193	T	0.13089	2.62	1.17	-2.34	0.06704	.	.	.	.	.	T	0.01940	0.0061	N	0.00251	-1.775	0.09310	N	1	B	0.27594	0.182	B	0.18263	0.021	T	0.36792	-0.9733	9	0.02654	T	1	.	4.8336	0.13453	0.0:0.2308:0.0:0.7692	.	729	Q5JRC9	FA47A_HUMAN	I	729	ENSP00000345029:V729I	ENSP00000345029:V729I	V	-	1	0	FAM47A	34058132	0.011000	0.17503	0.003000	0.11579	0.006000	0.05464	-0.488000	0.06497	-0.626000	0.05596	-1.470000	0.01010	GTT		0.438	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		10	171	0	0	0	1	0	10	171					T	34148211	C	T	34148211	3	4	311	1	0	0	0	0	1	0	0	0	5569	536	19	1	194	1	FAM47A	23	34148211	Missense_Mutation	SNP	C	TCGA-ET-A39K-01A-11D-A19J-08		34148211	121122349	8	5450											
ZC3H11A	9877	broad.mit.edu	37	1	203816376	203816376	+	Silent	SNP	C	C	T			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr1:203816376C>T	ENST00000545588.1	+	12	4934	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	ZC3H11A_ENST00000367214.1_Silent_p.A369A|ZC3H11A_ENST00000332127.4_Silent_p.A369A|ZC3H11A_ENST00000367212.3_Silent_p.A369A|ZC3H11A_ENST00000367210.1_Silent_p.A369A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	369					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGAAAGAGCCAGTCAGAAAC	0.373																																						uc001hac.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1105-1107)gcC>gcT		Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.							55	57	56					1																	203816376		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816376C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1107C>T	1.37:g.203816376C>T			Somatic				ZC3H11A_uc001had.3_Silent_p.A369A|ZC3H11A_uc001hae.3_Silent_p.A369A|ZC3H11A_uc001haf.3_Silent_p.A369A|ZC3H11A_uc010pqm.2_Silent_p.A315A|ZC3H11A_uc001hag.1_Silent_p.A369A	p.A369A	NM_014827	NP_055642	WXS	Illumina GAIIx	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	1723	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		369					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.1107C>T	CCDS30978.1																																																																																				0.373	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		6	55	0	0	0	1	0	6	55					T	203816376	C	T	203816376	2	4	312	1	0	0	0	0	0	0	0	1	17557	581	21	2		2	ZC3H11A	1	203816376	Silent	SNP	C	TCGA-ET-A39L-01A-12D-A19J-08		203816376	45434245	1	5451											
ARID1B	57492	broad.mit.edu	37	6	157100302	157100302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr6:157100302delG	ENST00000350026.5	+	1	1240	c.1239delG	c.(1237-1239)tcgfs	p.S413fs	RP11-230C9.3_ENST00000604792.1_RNA|MIR4466_ENST00000606121.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.S413fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.S355fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	413	Ala-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)		AGCACCCGTCGGGGGCCACCC	0.771																																						uc003qqn.3																			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.(1237-1239)tcgfs		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							5	5	5					6																	157100302		1734	3499	5233	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100302delG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1239delG	6.37:g.157100302delG	ENSP00000055163:p.Ser413fs		Somatic				ARID1B_uc003qqo.3_Frame_Shift_Del_p.S413fs|ARID1B_uc003qqp.3_Frame_Shift_Del_p.S413fs	p.S413fs	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	0	1239	+		Breast(66;0.000162)|Ovarian(120;0.0265)	413			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.1239delG	CCDS5251.2																																																																																				0.771	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		2	4						2	4	---	---	---	---	-	157100302	G	-	157100302	7	5	312	1	0	1	0	1	0	0	0	0	914	1103	39	0	1241	0	ARID1B	6	157100302	Frame_Shift_Del	DEL	G	TCGA-ET-A39L-01A-12D-A19J-08		157100302	14014765	2	5452											
NPAT	4863	broad.mit.edu	37	11	108032299	108032299	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr11:108032299A>G	ENST00000278612.8	-	17	3619	c.3514T>C	c.(3514-3516)Tgc>Cgc	p.C1172R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1172					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACATCGCTGCATAATTCATTC	0.363																																						uc001pjz.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3514-3516)Tgc>Cgc		Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.							165	158	160					11																	108032299		1825	4075	5900	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032299A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3514T>C	11.37:g.108032299A>G	ENSP00000278612:p.Cys1172Arg		Somatic				NPAT_uc010rvv.2_Missense_Mutation_p.C228R	p.C1172R	NM_002519	NP_002510	WXS	Illumina GAIIx	Phase_I	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	16	3616	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1172					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3514T>C	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	A	1.722	-0.496455	0.04291	.	.	ENSG00000149308	ENST00000278612	T	0.03607	3.87	6.07	2.51	0.30379	.	0.600734	0.18447	N	0.140959	T	0.02727	0.0082	L	0.39898	1.24	0.22050	N	0.999398	B	0.09022	0.002	B	0.06405	0.002	T	0.48068	-0.9067	10	0.07644	T	0.81	0.5969	4.2593	0.10733	0.3624:0.2091:0.4286:0.0	.	1172	Q14207	NPAT_HUMAN	R	1172	ENSP00000278612:C1172R	ENSP00000278612:C1172R	C	-	1	0	NPAT	107537509	0.004000	0.15560	0.946000	0.38457	0.983000	0.72400	0.694000	0.25512	0.559000	0.29153	0.528000	0.53228	TGC		0.363	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		18	160	0	0	0	1	0	18	160					G	108032299	A	G	108032299	3	3	312	1	0	0	0	0	1	0	0	0	10566	217	8	3	777	3	NPAT	11	108032299	Missense_Mutation	SNP	A	TCGA-ET-A39L-01A-12D-A19J-08		108032299	26974217	3	5453											
BAGE	85319	broad.mit.edu	37	21	11098733	11098733	+	RNA	SNP	G	G	A			TCGA-ET-A39L-01A-12D-A19J-08	TCGA-ET-A39L-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ca36d05-5efa-4fbe-8d3c-c57e8f77b6d4	09a340d3-3d5f-4a47-892c-5139c0bb78d3	g.chr21:11098733G>A	ENST00000470054.1	-	0	192							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tgctccggccgccatcttact	0.632																																						uc002yiu.1																			0											c.(4-6)gCg>gTg		Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							104	151	135					21																	11098733		2124	4261	6385			574					extracellular region		g.chr21:11098733G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098733G>A			Somatic				BAGE_uc002yit.1_5'UTR|BAGE_uc002yiv.1_Missense_Mutation_p.A2V|BAGE_uc002yix.2_Non-coding_Transcript	p.A2V	NM_182484	NP_872290	WXS	Illumina GAIIx	Phase_I	Q13072	BAGE1_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	205	-			2					A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.5C>T																																																																																					0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	82	0	0	0	1	0	8	82					A	11098733	G	A	11098733	1	1	312	0	1	0	0	0	0	0	0	0	1291	1087	38	1		1	BAGE	21	11098733	RNA	SNP	G	TCGA-ET-A39L-01A-12D-A19J-08		11098733	37031162	4	5454											
MEGF6	1953	broad.mit.edu	37	1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687																																					Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1177-1179)tAc>tGc		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							44	55	51					1																	3427403		2154	4245	6399	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427403T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1178A>G	1.37:g.3427403T>C	ENSP00000348982:p.Tyr393Cys		Somatic				MEGF6_uc001akk.3_Missense_Mutation_p.Y288C	p.Y393C	NM_001409	NP_001400	WXS	Illumina GAIIx	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	9	1405	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	393			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1178A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920882	0.73213	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88664	-2.41;-2.41	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.96547	3.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.59425	D	0.04	-45.6001	13.478	0.61320	0.0:0.0:0.0:1.0	.	393;288	O75095;O75095-2	MEGF6_HUMAN;.	C	288;393	ENSP00000294599:Y288C;ENSP00000348982:Y393C	ENSP00000294599:Y288C	Y	-	2	0	MEGF6	3417263	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.080000	0.57620	1.655000	0.50712	0.379000	0.24179	TAC		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	100	0	0	0	1	0	4	100					C	3427403	T	C	3427403	3	2	313	1	0	0	0	0	1	0	0	0	9462	1638	57	3	3559	3	MEGF6	1	3427403	Missense_Mutation	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		3427403	245823218	1	5455											
TMCO4	255104	broad.mit.edu	37	1	20009578	20009578	+	Silent	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:20009578G>A	ENST00000294543.6	-	16	2101	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	620						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGGCACAATCGGGGCAGCCCA	0.652																																						uc001bcn.3																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1858-1860)ccC>ccT		Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.							48	59	55					1																	20009578		2202	4299	6501	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20009578G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1860C>T	1.37:g.20009578G>A			Somatic				TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	p.P620P	NM_181719	NP_859070	WXS	Illumina GAIIx	Phase_I	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	15	2102	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	620					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.1860C>T	CCDS198.1																																																																																				0.652	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		52	167	0	0	0	1	0	52	167					A	20009578	G	A	20009578	2	1	313	1	0	0	0	0	0	0	0	1	15995	1103	39	1		1	TMCO4	1	20009578	Silent	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	16582175	20009578	229241043	2	5456											
MYBPHL	343263	broad.mit.edu	37	1	109839501	109839501	+	Missense_Mutation	SNP	C	C	T	rs140827712		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:109839501C>T	ENST00000357155.1	-	5	683	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	212	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TAGGAGTTGCCGATGATGAGG	0.567													C|||	1	0.000199681	0	0	5008	,	,		21301	0		0	False		,,,				2504	0.001					uc001dxk.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(634-636)Ggc>Agc		Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.		C	SER/GLY	0,4406		0,0,2203	131	103	113		634	4.0	0.9	1	dbSNP_134	113	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MYBPHL	NM_001010985.2	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	212/355	109839501	3,13003	2203	4300	6503	SO:0001583	missense	343263							g.chr1:109839501C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.634G>A	1.37:g.109839501C>T	ENSP00000349678:p.Gly212Ser		Somatic				MYBPHL_uc010ovh.1_Missense_Mutation_p.G189S|MYBPHL_uc001dxl.3_Intron	p.G212S	NM_001010985	NP_001010985	WXS	Illumina GAIIx	Phase_I	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	4	684	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	212			Fibronectin type-III.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.634G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554354	0.86231	0.0	3.49E-4	ENSG00000221986	ENST00000357155	T	0.61742	0.08	4.91	4.0	0.46444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74329	0.3702	M	0.91717	3.235	0.49687	D	0.999819	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80489	-0.1360	9	0.62326	D	0.03	.	12.4958	0.55927	0.168:0.832:0.0:0.0	.	189;212	B7ZME5;A2RUH7	.;MBPHL_HUMAN	S	212	ENSP00000349678:G212S	ENSP00000349678:G212S	G	-	1	0	MYBPHL	109641024	1.000000	0.71417	0.876000	0.34364	0.805000	0.45488	5.550000	0.67268	1.299000	0.44798	0.561000	0.74099	GGC		0.567	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		6	134	0	0	0	1	0	6	134					T	109839501	C	T	109839501	3	4	313	1	0	0	0	0	1	0	0	0	10015	652	23	1	446	1	MYBPHL	1	109839501	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	89829923	109839501	139411120	3	5457											
OBSCN	84033	broad.mit.edu	37	1	228437749	228437749	+	Missense_Mutation	SNP	G	G	A	rs201854668		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr1:228437749G>A	ENST00000422127.1	+	14	4161	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.E1465K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1373K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1373	Ig-like 14.				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)				GCTGAGCTGCGAGGTGGCCCA	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		14774	0		0	False		,,,				2504	0					uc009xez.1																			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.(4117-4119)Gag>Aag		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.		G	LYS/GLU,LYS/GLU	1,4113		0,1,2056	64	67	66		4117,4117	4.3	0.9	1		66	16,8346		1,14,4166	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	1,15,6222	AA,AG,GG		0.1913,0.0243,0.1363	probably-damaging,probably-damaging	1373/7969,1373/6621	228437749	17,12459	2057	4181	6238	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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	g.chr1:228437749G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4117G>A	1.37:g.228437749G>A	ENSP00000409493:p.Glu1373Lys		Somatic				OBSCN_uc001hsn.3_Missense_Mutation_p.E1373K	p.E1373K	NM_001098623	NP_001092093	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			13	4161	+		Prostate(94;0.0405)	1373			Ig-like 14.		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.4117G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.678065	0.47886	2.43E-4	0.001913	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66280	-0.2;-0.2	5.31	4.34	0.51931	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.776;1.0	B;D	0.91635	0.274;0.999	T	0.72443	-0.4292	10	0.26408	T	0.33	.	15.4	0.74830	0.0:0.1395:0.8605:0.0	.	1373;1373	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1373	ENSP00000284548:E1373K;ENSP00000409493:E1373K	ENSP00000284548:E1373K	E	+	1	0	OBSCN	226504372	1.000000	0.71417	0.949000	0.38748	0.012000	0.07955	4.378000	0.59568	2.468000	0.83385	0.655000	0.94253	GAG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	193	0	0	0	1	0	6	193					A	228437749	G	A	228437749	3	1	313	1	0	0	0	0	1	0	0	0	10812	1059	37	1	4167	1	OBSCN	1	228437749	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	118598248	228437749	20812872	4	5458											
COLEC11	78989	broad.mit.edu	37	2	3691640	3691640	+	Missense_Mutation	SNP	G	G	A	rs372572907		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr2:3691640G>A	ENST00000349077.4	+	7	851	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	COLEC11_ENST00000236693.7_Missense_Mutation_p.G247S|COLEC11_ENST00000382062.2_Missense_Mutation_p.G226S|COLEC11_ENST00000404205.1_Missense_Mutation_p.G176S|COLEC11_ENST00000402922.1_Missense_Mutation_p.G200S|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.G264S|COLEC11_ENST00000403096.3_Missense_Mutation_p.G224S|COLEC11_ENST00000402794.1_Missense_Mutation_p.G200S	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	250	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GGCCTCGGGCGGCTGGAACGA	0.622																																						uc002qya.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(748-750)Ggc>Agc		Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.		G	SER/GLY,SER/GLY	0,4406		0,0,2203	57	60	59		748,739	5.1	1.0	2		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COLEC11	NM_024027.3,NM_199235.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	250/272,247/269	3691640	1,13005	2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691640G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"Collectins"	17213	protein-coding gene	gene with protein product	"Collectin K1"	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.748G>A	2.37:g.3691640G>A	ENSP00000339168:p.Gly250Ser		Somatic				COLEC11_uc002qxz.3_Missense_Mutation_p.G247S|COLEC11_uc002qyb.3_Missense_Mutation_p.G226S|COLEC11_uc002qyc.3_Missense_Mutation_p.G226S|COLEC11_uc010ewo.3_Missense_Mutation_p.G202S|COLEC11_uc010ewp.3_Missense_Mutation_p.G224S|COLEC11_uc010ewq.3_Missense_Mutation_p.G200S|COLEC11_uc010ewr.3_Missense_Mutation_p.G200S|COLEC11_uc010ews.3_Missense_Mutation_p.G176S	p.G250S	NM_024027	NP_076932	WXS	Illumina GAIIx	Phase_I	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	896	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		250			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.748G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844069	0.91197	0.0	1.16E-4	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.09	5.09	0.68999	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.147080	0.64402	D	0.000009	T	0.43500	0.1250	L	0.33710	1.025	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;0.998;0.998;0.999;0.996;0.994	D;P;P;D;P;P;D;P;P	0.97110	1.0;0.858;0.858;0.997;0.858;0.815;0.932;0.823;0.666	T	0.12941	-1.0528	10	0.15499	T	0.54	-26.5964	17.4748	0.87657	0.0:0.0:1.0:0.0	.	176;200;200;224;202;226;226;250;247	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	S	226;247;250;264;224;200;176;200	ENSP00000371494:G226S;ENSP00000236693:G247S;ENSP00000339168:G250S;ENSP00000411770:G264S;ENSP00000385130:G224S;ENSP00000384882:G200S;ENSP00000385827:G176S;ENSP00000385653:G200S	ENSP00000236693:G247S	G	+	1	0	COLEC11	3669515	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	9.751000	0.98889	2.356000	0.79943	0.467000	0.42956	GGC		0.622	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		5	111	0	0	0	1	0	5	111					A	3691640	G	A	3691640	3	1	313	1	0	0	0	0	1	0	0	0	3711	1116	39	1	853	1	COLEC11	2	3691640	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08		3691640	239507733	5	5459											
FGD5	152273	broad.mit.edu	37	3	14861538	14861538	+	Silent	SNP	C	C	T	rs200107291	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:14861538C>T	ENST00000285046.5	+	1	1070	c.960C>T	c.(958-960)tcC>tcT	p.S320S	FGD5_ENST00000543601.1_Silent_p.S79S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	320	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.S79S(1)|p.S320S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGATGAGTCCGCCGAGGAGA	0.552													C|||	2	0.000399361	0	0.0029	5008	,	,		18129	0		0	False		,,,				2504	0					uc003bzc.3																			2	Substitution - coding silent(2)	p.S79S(1)|p.S320S(1)	endometrium(2)	NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(958-960)tcC>tcT		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.		C		2,4032		0,2,2015	64	71	68		960	-4.7	0.0	3		68	7,8363		0,7,4178	no	coding-synonymous	FGD5	NM_152536.3		0,9,6193	TT,TC,CC		0.0836,0.0496,0.0726		320/1463	14861538	9,12395	2017	4185	6202	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr3:14861538C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.960C>T	3.37:g.14861538C>T			Somatic				FGD5_uc011avk.2_Silent_p.S320S	p.S320S	NM_152536	NP_689749	WXS	Illumina GAIIx	Phase_I	Q6ZNL6	FGD5_HUMAN			0	1070	+			320			Glu-rich.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.960C>T	CCDS46767.1																																																																																				0.552	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		15	166	0	0	0	1	0	15	166					T	14861538	C	T	14861538	2	4	313	1	0	0	0	0	0	0	0	1	5836	639	23	1		1	FGD5	3	14861538	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		14861538	183160892	6	5460											
BBX	56987	broad.mit.edu	37	3	107492013	107492013	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr3:107492013A>G	ENST00000325805.8	+	11	1732	c.1445A>G	c.(1444-1446)gAc>gGc	p.D482G	BBX_ENST00000402543.1_Missense_Mutation_p.D482G|BBX_ENST00000406780.1_Missense_Mutation_p.D482G|BBX_ENST00000415149.2_Missense_Mutation_p.D482G|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	482	Lys-rich.				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)			TCGGAATCTGACATTGAGAGC	0.433																																						uc010hpr.3																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1444-1446)gAc>gGc		Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.							72	76	75					3																	107492013		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492013A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1445A>G	3.37:g.107492013A>G	ENSP00000319974:p.Asp482Gly		Somatic				BBX_uc003dwk.4_Missense_Mutation_p.D482G|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.D503G|BBX_uc003dwm.4_Missense_Mutation_p.D482G|BBX_uc003dwo.4_5'Flank	p.D482G	NM_001142568	NP_001136040	WXS	Illumina GAIIx	Phase_I	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		10	1772	+			482			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1445A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947829	0.73787	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	6.07	6.07	0.98685	.	0.092296	0.85682	D	0.000000	T	0.67739	0.2925	L	0.34521	1.04	0.47862	D	0.999535	D;D;D	0.76494	0.999;0.999;0.988	D;D;P	0.72982	0.979;0.979;0.852	T	0.70722	-0.4794	10	0.87932	D	0	-13.6968	16.635	0.85050	1.0:0.0:0.0:0.0	.	482;482;482	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	G	482	ENSP00000408358:D482G;ENSP00000385317:D482G;ENSP00000319974:D482G;ENSP00000385530:D482G	ENSP00000319974:D482G	D	+	2	0	BBX	108974703	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.618000	0.67722	2.330000	0.79161	0.477000	0.44152	GAC		0.433	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		6	234	0	0	0	1	0	6	234					G	107492013	A	G	107492013	3	3	313	1	0	0	0	0	1	0	0	0	1343	275	10	3	1475	3	BBX	3	107492013	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08	92630475	107492013	90530417	7	5461											
PDS5A	23244	broad.mit.edu	37	4	39918684	39918684	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr4:39918684A>G	ENST00000303538.8	-	8	1399	c.860T>C	c.(859-861)cTt>cCt	p.L287P	PDS5A_ENST00000503396.1_Missense_Mutation_p.L287P	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTTGAATTCAAGCTGTGGCAT	0.313																																						uc003guv.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(859-861)cTt>cCt		Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.							52	45	47					4																	39918684		1818	4076	5894	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39918684A>G	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.860T>C	4.37:g.39918684A>G	ENSP00000303427:p.Leu287Pro		Somatic				PDS5A_uc003guw.4_Missense_Mutation_p.L287P	p.L287P	NM_001100399	NP_001093869	WXS	Illumina GAIIx	Phase_I	Q29RF7	PDS5A_HUMAN			7	1400	-			287						Missense_Mutation	SNP	ENST00000303538.8	37	c.860T>C	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251541	0.80135	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.77489	-1.01;-1.1	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89003	0.3423	9	.	.	.	-12.2549	15.8027	0.78468	1.0:0.0:0.0:0.0	.	287;287	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	P	287	ENSP00000303427:L287P;ENSP00000426749:L287P	.	L	-	2	0	PDS5A	39595079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.127000	0.65507	0.477000	0.44152	CTT		0.313	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	24	0	0	0	1	0	3	24					G	39918684	A	G	39918684	3	3	313	1	0	0	0	0	1	0	0	0	11691	72	3	3	3290	3	PDS5A	4	39918684	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08		39918684	151235592	8	5462											
PCDHB9	57717	broad.mit.edu	37	5	140568475	140568475	+	IGR	SNP	C	C	G	rs17844529	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr5:140568475C>G	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						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)			AGGCTTTCGACTTCCGCGTGG	0.672													G|||	11	0.00219649	0.0045	0.0014	5008	,	,		17200	0		0.001	False		,,,				2504	0.0031					uc003liw.1																			0											c.(1579-1581)gaC>gaG		Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.		G	GLU/ASP	18,4388	822.1+/-416.4	1,16,2186	73	85	80		1583	2.2	0.2	5	dbSNP_123	80	5,8595	818.1+/-406.9	0,5,4295	no	missense	PCDHB9	NM_019119.3	45	1,21,6481	GG,GC,CC		0.0581,0.4085,0.1768	benign	528/798	140568475	23,12983	2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568475C>G	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568475C>G			Somatic					p.D527E	NM_019119	NP_061992	WXS	Illumina GAIIx	Phase_I	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1581	+			528			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1581C>G	CCDS4251.1																																																																																				0.672	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		11	292	0	0	0	1	0	11	292					G	140568475	C	G	140568475	1	3	313	0	1	0	0	0	0	0	0	0	11549	565	20	4		4	PCDHB9	5	140568475	IGR	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		140568475	40346785	9	5463											
TCTE1	202500	broad.mit.edu	37	6	44250215	44250215	+	Missense_Mutation	SNP	C	C	T	rs146833594	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr6:44250215C>T	ENST00000371505.4	-	4	1050	c.928G>A	c.(928-930)Gag>Aag	p.E310K	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	310										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTCCTCGAGGACTGGG	0.572													C|||	7	0.00139776	0	0.0014	5008	,	,		21393	0		0.001	False		,,,				2504	0.0051					uc003oxi.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(928-930)Gag>Aag		Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.		C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	107	96	100		928	2.5	0.9	6	dbSNP_134	100	33,8567	22.8+/-68.1	0,33,4267	yes	missense	TCTE1	NM_182539.3	56	0,36,6467	TT,TC,CC		0.3837,0.0681,0.2768	benign	310/502	44250215	36,12970	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250215C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.928G>A	6.37:g.44250215C>T	ENSP00000360560:p.Glu310Lys		Somatic				TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	p.E310K	NM_182539	NP_872345	WXS	Illumina GAIIx	Phase_I	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	1084	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		310					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.928G>A	CCDS4910.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	1.570	-0.534484	0.04082	6.81E-4	0.003837	ENSG00000146221	ENST00000371505	T	0.52057	0.68	5.37	2.46	0.29980	.	0.569355	0.20252	N	0.096041	T	0.06050	0.0157	N	0.12663	0.25	0.09310	N	1	P	0.39520	0.676	B	0.32289	0.143	T	0.24584	-1.0156	10	0.06236	T	0.91	-28.2293	3.8673	0.09021	0.1246:0.5587:0.1215:0.1952	.	310	Q5JU00	TCTE1_HUMAN	K	310	ENSP00000360560:E310K	ENSP00000360560:E310K	E	-	1	0	TCTE1	44358193	0.016000	0.18221	0.859000	0.33776	0.397000	0.30659	0.446000	0.21694	1.424000	0.47217	0.455000	0.32223	GAG		0.572	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		7	168	0	0	0	1	0	7	168					T	44250215	C	T	44250215	3	4	313	1	0	0	0	0	1	0	0	0	15714	893	31	1	585	1	TCTE1	6	44250215	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		44250215	126864852	10	5464											
C6orf174	387104	broad.mit.edu	37	6	127837687	127837687	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr6:127837687C>T	ENST00000525778.1	-	2	818	c.73G>A	c.(73-75)Gct>Act	p.A25T	SOGA3_ENST00000368268.2_Missense_Mutation_p.A25T|SOGA3_ENST00000556132.1_Missense_Mutation_p.A25T|SOGA3_ENST00000465909.2_Missense_Mutation_p.A25T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A25T			Q5TF21	SOGA3_HUMAN	SOGA family member 3	25					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGCAGACGAGCCTCAGTGGCT	0.647																																						uc003qbd.3																			0											c.(73-75)Gct>Act		Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.							13	16	15					6																	127837687		2048	4185	6233	SO:0001583	missense	387104					integral to membrane		g.chr6:127837687C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.73G>A	6.37:g.127837687C>T	ENSP00000434570:p.Ala25Thr		Somatic					p.A25T	NM_001012279	NP_001012279	WXS	Illumina GAIIx	Phase_I	Q5TF21	CF174_HUMAN			1	938	-			25						Missense_Mutation	SNP	ENST00000525778.1	37	c.73G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064870	0.36470	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.79	4.88	0.63580	.	0.181905	0.37715	N	0.001966	T	0.15132	0.0365	N	0.14661	0.345	0.36775	D	0.883995	B	0.31318	0.319	B	0.34138	0.176	T	0.06935	-1.0799	10	0.35671	T	0.21	-6.048	17.5015	0.87733	0.0:0.8653:0.1347:0.0	.	25	Q5TF21	CF174_HUMAN	T	25	ENSP00000451768:A25T;ENSP00000357251:A25T;ENSP00000434570:A25T;ENSP00000435559:A25T	ENSP00000435559:A25T	A	-	1	0	C6orf174	127879380	1.000000	0.71417	0.997000	0.53966	0.226000	0.24999	0.799000	0.27028	2.735000	0.93741	0.561000	0.74099	GCT		0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		4	27	0	0	0	1	0	4	27					T	127837687	C	T	127837687	3	4	313	1	0	0	0	0	1	0	0	0	2345	739	26	2	2794	2	C6orf174	6	127837687	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	83587472	127837687	43277380	11	5465											
TRIM56	81844	broad.mit.edu	37	7	100732226	100732226	+	Missense_Mutation	SNP	C	C	T	rs111572673		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:100732226C>T	ENST00000306085.6	+	3	1930	c.1633C>T	c.(1633-1635)Ccg>Tcg	p.P545S		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	545					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)					GGGCACCGTGCCGGTCCCTGA	0.672																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.3																			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.(1633-1635)Ccg>Tcg		Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.		C	SER/PRO	0,4248		0,0,2124	47	54	52		1633	3.8	1.0	7	dbSNP_132	52	1,8455		0,1,4227	yes	missense	TRIM56	NM_030961.1	74	0,1,6351	TT,TC,CC		0.0118,0.0,0.0079	benign	545/756	100732226	1,12703	2124	4228	6352	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.chr7:100732226C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1633C>T	7.37:g.100732226C>T	ENSP00000305161:p.Pro545Ser		Somatic				TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.P545S	p.P545S	NM_030961	NP_112223	WXS	Illumina GAIIx	Phase_I	Q9BRZ2	TRI56_HUMAN			2	1864	+	Lung NSC(181;0.136)|all_lung(186;0.182)		545					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1633C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387372	0.25031	0.0	1.18E-4	ENSG00000169871	ENST00000306085	T	0.28454	1.61	3.76	3.76	0.43208	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.18882	0.0453	N	0.14661	0.345	0.25144	N	0.990472	B	0.24186	0.099	B	0.19391	0.025	T	0.07966	-1.0745	9	0.36615	T	0.2	.	11.3763	0.49730	0.0:1.0:0.0:0.0	.	545	Q9BRZ2	TRI56_HUMAN	S	545	ENSP00000305161:P545S	ENSP00000305161:P545S	P	+	1	0	TRIM56	100518946	0.992000	0.36948	0.972000	0.41901	0.779000	0.44077	1.762000	0.38451	2.380000	0.81148	0.591000	0.81541	CCG		0.672	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		6	174	0	0	0	1	0	6	174					T	100732226	C	T	100732226	3	4	313	1	0	0	0	0	1	0	0	0	16527	739	26	2	1635	2	TRIM56	7	100732226	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		100732226	58406437	12	5466											
LRWD1	222229	broad.mit.edu	37	7	102110079	102110079	+	Silent	SNP	C	C	T	rs142392925	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:102110079C>T	ENST00000292616.5	+	10	1439	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	429					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						ACCAGGACTACGAATTCCAGG	0.632													C|||	2	0.000399361	0	0	5008	,	,		17702	0		0.002	False		,,,				2504	0					uc003uzn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						c.(1285-1287)taC>taT		Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	125	111	116		1287	-4.7	0.0	7	dbSNP_134	116	14,8586	11.2+/-40.8	0,14,4286	no	coding-synonymous	LRWD1	NM_152892.1		0,15,6488	TT,TC,CC		0.1628,0.0227,0.1153		429/648	102110079	15,12991	2203	4300	6503	SO:0001819	synonymous_variant	222229				DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102110079C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1287C>T	7.37:g.102110079C>T			Somatic				MIR4467_uc022ajg.1_5'Flank	p.Y429Y	NM_152892	NP_690852	WXS	Illumina GAIIx	Phase_I	Q9UFC0	LRWD1_HUMAN			9	1425	+			429					A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	ENST00000292616.5	37	c.1287C>T	CCDS34715.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.553	0.470270	0.12461	2.27E-4	0.001628	ENSG00000161036	ENST00000488689;ENST00000468175	.	.	.	4.61	-4.65	0.03339	.	.	.	.	.	T	0.49029	0.1533	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.44620	-0.9316	4	.	.	.	-8.9171	6.8738	0.24135	0.1087:0.4283:0.0:0.463	.	.	.	.	M	58;15	.	.	T	+	2	0	LRWD1	101897084	0.010000	0.17322	0.008000	0.14137	0.928000	0.56348	-1.134000	0.03228	-1.466000	0.01897	-0.424000	0.05967	ACG		0.632	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		7	144	0	0	0	1	0	7	144					T	102110079	C	T	102110079	2	4	313	1	0	0	0	0	0	0	0	1	9047	547	19	1		1	LRWD1	7	102110079	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	1377853	102110079	57028584	13	5467											
LAMB4	22798	broad.mit.edu	37	7	107752270	107752270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:107752270C>T	ENST00000388781.3	-	4	397	c.314G>A	c.(313-315)tGg>tAg	p.W105*	LAMB4_ENST00000388780.3_Nonsense_Mutation_p.W105*|LAMB4_ENST00000418464.1_Nonsense_Mutation_p.W105*|LAMB4_ENST00000414450.2_Nonsense_Mutation_p.W105*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.W105*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	105	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCAGATTGCCACCATTTCTT	0.348																																						uc010ljo.1																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(313-315)tGg>tAg		Homo sapiens laminin, beta 4 (LAMB4), mRNA.							174	165	168					7																	107752270		2203	4300	6503	SO:0001587	stop_gained	22798				cell adhesion	basement membrane		g.chr7:107752270C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.314G>A	7.37:g.107752270C>T	ENSP00000373433:p.Trp105*		Somatic				LAMB4_uc003vey.2_Nonsense_Mutation_p.W105*	p.W105*	NM_007356	NP_031382	WXS	Illumina GAIIx	Phase_I	A4D0S4	LAMB4_HUMAN			3	398	-			105			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	ENST00000388781.3	37	c.314G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457108	0.96223	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	.	.	.	5.35	5.35	0.76521	.	0.127189	0.36778	N	0.002401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000205386:W105X	W	-	2	0	LAMB4	107539506	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	4.617000	0.61204	2.941000	0.99782	0.655000	0.94253	TGG		0.348	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		12	219	0	0	0	1	0	12	219					T	107752270	C	T	107752270	4	4	313	1	0	0	0	0	0	1	0	0	8613	595	21	2	5095	2	LAMB4	7	107752270	Nonsense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	5642191	107752270	51386393	14	5468											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		51	174	0	0	0	1	0	51	174					T	140453136	A	T	140453136	3	4	313	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08	32700866	140453136	18685527	15	5469											
ZNF212	7988	broad.mit.edu	37	7	148947484	148947484	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr7:148947484G>A	ENST00000335870.2	+	2	387	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CGTGGAGTTCGGGAACCAGCT	0.652																																						uc003wfp.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(259-261)Ggg>Agg		Homo sapiens zinc finger protein 212 (ZNF212), mRNA.							72	76	75					7																	148947484		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947484G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.259G>A	7.37:g.148947484G>A	ENSP00000338572:p.Gly87Arg		Somatic					p.G87R	NM_012256	NP_036388	WXS	Illumina GAIIx	Phase_I	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		1	387	+	Melanoma(164;0.15)		87					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.259G>A	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252700	0.59212	.	.	ENSG00000170260	ENST00000335870	T	0.23147	1.92	5.95	3.12	0.35913	.	0.374680	0.23360	N	0.049035	T	0.42245	0.1194	M	0.65498	2.005	0.27563	N	0.950113	D	0.89917	1.0	D	0.76071	0.987	T	0.25641	-1.0126	10	0.56958	D	0.05	-14.6209	5.0676	0.14591	0.1746:0.0:0.6592:0.1662	.	87	Q9UDV6	ZN212_HUMAN	R	87	ENSP00000338572:G87R	ENSP00000338572:G87R	G	+	1	0	ZNF212	148578417	0.996000	0.38824	0.234000	0.24042	0.697000	0.40408	2.511000	0.45476	0.387000	0.25024	0.563000	0.77884	GGG		0.652	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		8	236	0	0	0	1	0	8	236					A	148947484	G	A	148947484	3	1	313	1	0	0	0	0	1	0	0	0	17765	1116	39	1	265	1	ZNF212	7	148947484	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	8494348	148947484	10191179	16	5470											
EEF1D	1936	broad.mit.edu	37	8	144671277	144671277	+	Intron	SNP	G	G	A	rs373708948		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr8:144671277G>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000442189.2_Silent_p.A325A|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000532741.1_Silent_p.A375A|EEF1D_ENST00000423316.2_Silent_p.A325A|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCGGCACTCGGCGCTGTCGT	0.692																																						uc003yyq.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1123-1125)gcC>gcT		Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.		G	,,,,,,	0,4392		0,0,2196	19	20	20		975,,,,,,975	-9.8	0.3	8		20	1,8589		0,1,4294	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	,,,,,,	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	325/648,,,,,,325/648	144671277	1,12981	2196	4295	6491	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671277G>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2258C>T	8.37:g.144671277G>A			Somatic				EEF1D_uc003yyp.2_Silent_p.A325A|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.A325A|EEF1D_uc003yyr.3_Silent_p.A325A|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	p.A375A	NM_032378	NP_115754	WXS	Illumina GAIIx	Phase_I	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		0	1354	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		0					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.1125C>T	CCDS6405.1																																																																																				0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		3	28	0	0	0	1	0	3	28					A	144671277	G	A	144671277	1	1	313	0	1	0	0	0	0	0	0	0	4926	1103	39	1		1	EEF1D	8	144671277	Intron	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08		144671277	1692745	17	5471											
C9orf50	375759	broad.mit.edu	37	9	132375757	132375757	+	Missense_Mutation	SNP	C	C	T	rs368047969		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr9:132375757C>T	ENST00000372478.4	-	5	1201	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	334										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AGGGTCTCCTCCTTGGCCCCA	0.662																																						uc004byc.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1000-1002)Gag>Aag		Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.		C	LYS/GLU	0,4406		0,0,2203	49	48	48		1000	1.4	0.0	9		48	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf50	NM_199350.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	334/432	132375757	1,13005	2203	4300	6503	SO:0001583	missense	375759							g.chr9:132375757C>T	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1000G>A	9.37:g.132375757C>T	ENSP00000361556:p.Glu334Lys		Somatic				C9orf50_uc022boo.1_Missense_Mutation_p.E333K	p.E334K	NM_199350	NP_955382	WXS	Illumina GAIIx	Phase_I	Q5SZB4	CI050_HUMAN			4	1202	-		Ovarian(14;0.00556)	334					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1000G>A	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889865	0.72524	0.0	1.16E-4	ENSG00000179058	ENST00000372478	T	0.22336	1.96	3.27	1.39	0.22231	.	1.192960	0.06388	N	0.716614	T	0.12987	0.0315	N	0.24115	0.695	0.09310	N	1	P	0.37101	0.582	B	0.32583	0.148	T	0.26467	-1.0102	10	0.62326	D	0.03	-6.7488	4.521	0.11959	0.0:0.5837:0.2771:0.1391	.	334	Q5SZB4	CI050_HUMAN	K	334	ENSP00000361556:E334K	ENSP00000361556:E334K	E	-	1	0	C9orf50	131415578	0.041000	0.20044	0.013000	0.15412	0.512000	0.34134	1.033000	0.30191	0.401000	0.25424	0.456000	0.33151	GAG		0.662	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		8	100	0	0	0	1	0	8	100					T	132375757	C	T	132375757	3	4	313	1	0	0	0	0	1	0	0	0	2487	864	30	2	307	2	C9orf50	9	132375757	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		132375757	8837674	18	5472											
DAGLA	747	broad.mit.edu	37	11	61511242	61511242	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:61511242C>T	ENST00000257215.5	+	20	2526	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	804					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCGCAGCATCCGGGGCTCCCC	0.662																																						uc001nsa.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2410-2412)Cgg>Tgg		Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.							63	72	69					11																	61511242		1987	4008	5995	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511242C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2410C>T	11.37:g.61511242C>T	ENSP00000257215:p.Arg804Trp		Somatic					p.R804W	NM_006133	NP_006124	WXS	Illumina GAIIx	Phase_I	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	19	2526	+			804					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2410C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091277	0.55968	.	.	ENSG00000134780	ENST00000257215	T	0.35789	1.29	3.11	2.15	0.27550	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.40346	-0.9568	10	0.87932	D	0	-23.3504	11.8068	0.52161	0.184:0.816:0.0:0.0	.	804	Q9Y4D2	DGLA_HUMAN	W	804	ENSP00000257215:R804W	ENSP00000257215:R804W	R	+	1	2	DAGLA	61267818	1.000000	0.71417	0.978000	0.43139	0.665000	0.39181	2.712000	0.47186	0.829000	0.34733	0.491000	0.48974	CGG		0.662	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		14	286	0	0	0	1	0	14	286					T	61511242	C	T	61511242	3	4	313	1	0	0	0	0	1	0	0	0	4226	643	23	1	2484	1	DAGLA	11	61511242	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		61511242	73495274	19	5473											
P2RY2	5029	broad.mit.edu	37	11	72945651	72945651	+	Silent	SNP	C	C	T	rs147817701	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393596.2_Silent_p.Y149Y|P2RY2_ENST00000393597.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					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)	GGGCCCGCTACGCTCGCCGGG	0.697													C|||	29	0.00579073	8e-04	0	5008	,	,		14981	0		0.002	False		,,,				2504	0.0266					uc001otk.3																			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.(445-447)taC>taT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	Suramin(DB04786)	C	,,	3,4397	6.2+/-15.9	0,3,2197	37	38	38		447,447,447	-9.3	0.8	11	dbSNP_134	38	12,8572	9.1+/-34.3	0,12,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	,,	0,15,6477	TT,TC,CC		0.1398,0.0682,0.1155	,,	149/378,149/378,149/378	72945651	15,12969	2200	4292	6492	SO:0001819	synonymous_variant	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.chr11:72945651C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.447C>T	11.37:g.72945651C>T			Somatic				P2RY2_uc001otj.3_Silent_p.Y149Y|P2RY2_uc001otl.3_Silent_p.Y149Y|P2RY2_uc021qna.1_Silent_p.Y149Y	p.Y149Y	NM_176072	NP_788086	WXS	Illumina GAIIx	Phase_I	P41231	P2RY2_HUMAN			2	914	+			149					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.447C>T	CCDS8219.1																																																																																				0.697	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		9	168	0	0	0	1	0	9	168					T	72945651	C	T	72945651	2	4	313	1	0	0	0	0	0	0	0	1	11352	547	19	1		1	P2RY2	11	72945651	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	11434409	72945651	62060865	20	5474											
PCK2	5106	broad.mit.edu	37	14	24568395	24568395	+	Missense_Mutation	SNP	A	A	G	rs146890792	byFrequency	TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr14:24568395A>G	ENST00000216780.4	+	5	1070	c.802A>G	c.(802-804)Atc>Gtc	p.I268V	PCK2_ENST00000545054.2_Missense_Mutation_p.I134V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.I280V|PCK2_ENST00000558096.1_Missense_Mutation_p.I134V|PCK2_ENST00000561286.1_Missense_Mutation_p.I134V|PCK2_ENST00000396973.4_Missense_Mutation_p.I268V	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	268					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)		TGCCCTACGCATCGCCTCTCG	0.662																																						uc001wlt.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(802-804)Atc>Gtc		Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		A	VAL/ILE,VAL/ILE	0,4406		0,0,2203	49	44	46		802,802	5.8	1.0	14	dbSNP_134	46	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense	PCK2	NM_001018073.1,NM_004563.2	29,29	0,7,6496	GG,GA,AA		0.0814,0.0,0.0538	probably-damaging,probably-damaging	268/442,268/641	24568395	7,12999	2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24568395A>G	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.802A>G	14.37:g.24568395A>G	ENSP00000216780:p.Ile268Val		Somatic				NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.I268V|PCK2_uc010tnw.2_Missense_Mutation_p.I134V|PCK2_uc010ald.2_Missense_Mutation_p.I120V|PCK2_uc010ale.2_Intron|PCK2_uc010tnx.2_Missense_Mutation_p.I134V|PCK2_uc001wlu.4_Missense_Mutation_p.I134V	p.I268V	NM_004563	NP_004554	WXS	Illumina GAIIx	Phase_I	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	4	934	+			268					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.802A>G	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124183	0.77436	0.0	8.14E-4	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.05649	3.41;3.41;3.41	5.79	5.79	0.91817	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.93808	3.46	0.80722	D	1	P;P;P;P	0.51449	0.591;0.897;0.945;0.897	P;P;P;P	0.57911	0.664;0.829;0.649;0.829	T	0.30238	-0.9985	10	0.87932	D	0	-9.3117	14.0845	0.64947	1.0:0.0:0.0:0.0	.	134;268;268;268	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	V	268;268;134	ENSP00000216780:I268V;ENSP00000380171:I268V;ENSP00000441826:I134V	ENSP00000216780:I268V	I	+	1	0	PCK2	23638235	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	2.219000	0.72066	0.460000	0.39030	ATC		0.662	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		5	91	0	0	0	1	0	5	91					G	24568395	A	G	24568395	3	3	313	1	0	0	0	0	1	0	0	0	11582	217	8	3	820	3	PCK2	14	24568395	Missense_Mutation	SNP	A	TCGA-ET-A39M-01A-11D-A19J-08		24568395	82781145	21	5475											
KREMEN2	79412	broad.mit.edu	37	16	3016732	3016732	+	Silent	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr16:3016732C>T	ENST00000303746.5	+	5	1153	c.576C>T	c.(574-576)gaC>gaT	p.D192D	PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000572687.1_5'Flank|KREMEN2_ENST00000575885.1_Intron|PAQR4_ENST00000293978.8_5'Flank|KREMEN2_ENST00000575769.1_Silent_p.D192D|PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000572045.1_Silent_p.D192D|PAQR4_ENST00000576565.1_5'Flank|KREMEN2_ENST00000319500.6_Silent_p.D192D			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	192	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.			Missing (in Ref. 2; BAC11365). {ECO:0000305}.	Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCGACTGTGACCAGATCTGTT	0.706																																						uc002csg.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(574-576)gaC>gaT		Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA.							19	25	23					16																	3016732		2191	4294	6485	SO:0001819	synonymous_variant	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3016732C>T	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.576C>T	16.37:g.3016732C>T			Somatic				KREMEN2_uc010bsw.2_Silent_p.D192D|KREMEN2_uc002csi.3_Silent_p.D192D|KREMEN2_uc010uwl.2_Intron|KREMEN2_uc002csh.3_Silent_p.D192D|KREMEN2_uc010bsx.3_Intron|PAQR4_uc002csj.4_5'Flank|PAQR4_uc002csk.4_5'Flank|PAQR4_uc002csl.4_5'Flank	p.D192D	NM_172229	NP_757384	WXS	Illumina GAIIx	Phase_I	Q8NCW0	KREM2_HUMAN			4	881	+			192	Missing (in Ref. 2; BAC11365).		WSC.		B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Silent	SNP	ENST00000303746.5	37	c.576C>T	CCDS10483.1																																																																																				0.706	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		5	60	0	0	0	1	0	5	60					T	3016732	C	T	3016732	2	4	313	1	0	0	0	0	0	0	0	1	8443	506	18	2		2	KREMEN2	16	3016732	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		3016732	87338021	22	5476											
MYBBP1A	10514	broad.mit.edu	37	17	4453510	4453510	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:4453510T>G	ENST00000254718.4	-	9	1468	c.1162A>C	c.(1162-1164)Acg>Ccg	p.T388P	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.T388P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	388	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AAAGTAGGCGTGACAGGGAGG	0.642																																						uc002fxz.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1162-1164)Acg>Ccg		Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.							100	107	105					17																	4453510		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4453510T>G	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1162A>C	17.37:g.4453510T>G	ENSP00000254718:p.Thr388Pro		Somatic				MYBBP1A_uc002fyb.4_Missense_Mutation_p.T388P	p.T388P	NM_001105538	NP_001099008	WXS	Illumina GAIIx	Phase_I	Q9BQG0	MBB1A_HUMAN			8	1224	-			388			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1162A>C	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	T	8.693	0.907787	0.17833	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.43294	0.95;0.95	5.06	-5.32	0.02722	Armadillo-type fold (1);	0.924771	0.09232	N	0.830468	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	1	B;B	0.23540	0.087;0.071	B;B	0.31495	0.131;0.081	T	0.29058	-1.0024	10	0.44086	T	0.13	-3.9144	2.7199	0.05198	0.1221:0.2221:0.131:0.5248	.	388;388	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	P	388	ENSP00000370968:T388P;ENSP00000254718:T388P	ENSP00000254718:T388P	T	-	1	0	MYBBP1A	4400259	0.130000	0.22417	0.004000	0.12327	0.002000	0.02628	-0.281000	0.08456	-1.257000	0.02475	-0.132000	0.14878	ACG		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		10	271	0	0	0	1	0	10	271					G	4453510	T	G	4453510	3	3	313	1	0	0	0	0	1	0	0	0	10008	1696	59	5	2936	5	MYBBP1A	17	4453510	Missense_Mutation	SNP	T	TCGA-ET-A39M-01A-11D-A19J-08		4453510	76741700	23	5477											
EVPL	2125	broad.mit.edu	37	17	74005040	74005040	+	Missense_Mutation	SNP	C	C	T	rs140832012		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr17:74005040C>T	ENST00000301607.3	-	22	4499	c.4246G>A	c.(4246-4248)Gtg>Atg	p.V1416M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1438M|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1416	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCTCCTCCACGCCGGCCCGC	0.692																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4312-4314)Gtg>Atg		Homo sapiens envoplakin (EVPL), mRNA.		C	MET/VAL	0,4406		0,0,2203	39	43	42		4246	4.1	0.8	17	dbSNP_134	42	1,8595	1.2+/-3.3	0,1,4297	no	missense	EVPL	NM_001988.2	21	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1416/2034	74005040	1,13001	2203	4298	6501	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005040C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4246G>A	17.37:g.74005040C>T	ENSP00000301607:p.Val1416Met		Somatic				EVPL_uc002jqi.2_Missense_Mutation_p.V1416M|EVPL_uc010wst.1_Missense_Mutation_p.V886M	p.V1438M	NM_001988	NP_001979	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			21	4540	-			1416			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4312G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059058	0.36373	0.0	1.16E-4	ENSG00000167880	ENST00000301607	T	0.54071	0.59	5.1	4.11	0.48088	.	0.150365	0.44688	D	0.000425	T	0.60945	0.2308	M	0.65975	2.015	0.35366	D	0.788611	D;D	0.67145	0.996;0.995	P;P	0.51193	0.65;0.662	T	0.74444	-0.3663	10	0.56958	D	0.05	-29.2332	15.0137	0.71567	0.1436:0.8564:0.0:0.0	.	1438;1416	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1416	ENSP00000301607:V1416M	ENSP00000301607:V1416M	V	-	1	0	EVPL	71516635	0.781000	0.28676	0.798000	0.32154	0.326000	0.28443	1.519000	0.35888	1.242000	0.43836	0.655000	0.94253	GTG		0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		6	166	0	0	0	1	0	6	166					T	74005040	C	T	74005040	3	4	313	1	0	0	0	0	1	0	0	0	5292	536	19	1	1859	1	EVPL	17	74005040	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08	69551530	74005040	7190170	24	5478											
IL17RA	23765	broad.mit.edu	37	22	17583105	17583105	+	Silent	SNP	C	C	T	rs371674761		TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:17583105C>T	ENST00000319363.6	+	7	808	c.675C>T	c.(673-675)aaC>aaT	p.N225N		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	225					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCTGTGGAACGAATCTACCC	0.572																																						uc002zly.3																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(673-675)aaC>aaT		Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	183	160	168		675	-2.0	0.8	22		168	0,8600		0,0,4300	no	coding-synonymous	IL17RA	NM_014339.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		225/867	17583105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17583105C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.675C>T	22.37:g.17583105C>T			Somatic					p.N225N	NM_014339	NP_055154	WXS	Illumina GAIIx	Phase_I	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	6	806	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	225					O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.675C>T	CCDS13739.1																																																																																				0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		7	159	0	0	0	1	0	7	159					T	17583105	C	T	17583105	2	4	313	1	0	0	0	0	0	0	0	1	7639	535	19	1		1	IL17RA	22	17583105	Silent	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		17583105	33721461	25	5479											
MMP11	4320	broad.mit.edu	37	22	24123183	24123183	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:24123183G>A	ENST00000215743.3	+	5	806	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	252					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TGACTGCAGGGGCGTTCAACA	0.622																																						uc002zxx.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(754-756)Ggc>Agc		Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.							91	76	81					22																	24123183		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24123183G>A		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.754G>A	22.37:g.24123183G>A	ENSP00000215743:p.Gly252Ser		Somatic				MMP11_uc002zxy.3_Non-coding_Transcript	p.G252S	NM_005940	NP_005931	WXS	Illumina GAIIx	Phase_I	P24347	MMP11_HUMAN			4	776	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	252					Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.754G>A	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887655	0.91814	.	.	ENSG00000099953	ENST00000215743	T	0.31510	1.49	5.18	4.16	0.48862	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74003	-0.3804	10	0.87932	D	0	.	13.5053	0.61481	0.0751:0.0:0.9249:0.0	.	252	P24347	MMP11_HUMAN	S	252	ENSP00000215743:G252S	ENSP00000215743:G252S	G	+	1	0	MMP11	22453183	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.605000	0.98321	1.574000	0.49760	0.650000	0.86243	GGC		0.622	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		5	98	0	0	0	1	0	5	98					A	24123183	G	A	24123183	3	1	313	1	0	0	0	0	1	0	0	0	9650	1232	43	2	772	2	MMP11	22	24123183	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	6540078	24123183	27181383	26	5480											
PANX2	56666	broad.mit.edu	37	22	50617591	50617591	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chr22:50617591G>A	ENST00000395842.2	+	3	1919	c.1919G>A	c.(1918-1920)gGg>gAg	p.G640E	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	640					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGGAGGACGGGGGCCCCCGC	0.682																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1918-1920)gGg>gAg		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							32	30	31					22																	50617591		2200	4297	6497	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50617591G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1919G>A	22.37:g.50617591G>A	ENSP00000379183:p.Gly640Glu		Somatic				PANX2_uc003bjp.4_Intron|PANX2_uc003bjo.4_Intron	p.G640E	NM_052839	NP_443071	WXS	Illumina GAIIx	Phase_I	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1919	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	640					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1919G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532532	0.27387	.	.	ENSG00000073150	ENST00000395842;ENST00000401643	T	0.21361	2.01	3.72	2.69	0.31865	.	0.779066	0.10383	U	0.681308	T	0.09686	0.0238	N	0.12182	0.205	0.25809	N	0.984413	B	0.06786	0.001	B	0.06405	0.002	T	0.27571	-1.0070	9	.	.	.	-8.7779	3.6114	0.08062	0.3925:0.0:0.6075:0.0	.	640	Q96RD6	PANX2_HUMAN	E	640;317	ENSP00000379183:G640E	.	G	+	2	0	PANX2	48959718	1.000000	0.71417	0.803000	0.32268	0.307000	0.27823	1.673000	0.37534	2.081000	0.62600	0.313000	0.20887	GGG		0.682	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		3	35	0	0	0	1	0	3	35					A	50617591	G	A	50617591	3	1	313	1	0	0	0	0	1	0	0	0	11421	1232	43	2	1929	2	PANX2	22	50617591	Missense_Mutation	SNP	G	TCGA-ET-A39M-01A-11D-A19J-08	26494408	50617591	686975	27	5481											
PNMA5	114824	broad.mit.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39M-01A-11D-A19J-08	TCGA-ET-A39M-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39c627f7-225b-4a78-a589-e3228fed1d6e	cfdd0348-3531-4c23-bc2f-963173dfd77e	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562																																						uc010ntx.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(862-864)cGt>cAt		Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.							43	44	43					X																	152159280		2203	4298	6501	SO:0001583	missense	114824				apoptosis			g.chrX:152159280C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.863G>A	X.37:g.152159280C>T	ENSP00000388850:p.Arg288His		Somatic				PNMA5_uc010ntw.3_Missense_Mutation_p.R288H|PNMA5_uc004fgy.4_Missense_Mutation_p.R288H|PNMA5_uc022chm.1_Missense_Mutation_p.R288H|PNMA5_uc022chn.1_Missense_Mutation_p.R288H	p.R288H	NM_052926	NP_443158	WXS	Illumina GAIIx	Phase_I	Q96PV4	PNMA5_HUMAN			1	1288	-	Acute lymphoblastic leukemia(192;6.56e-05)		288					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.863G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		44	50	0	0	0	1	0	44	50					T	152159280	C	T	152159280	3	4	313	1	0	0	0	0	1	0	0	0	12156	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-ET-A39M-01A-11D-A19J-08		152159280	3111280	28	5482											
INO80D	54891	broad.mit.edu	37	2	206869669	206869669	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr2:206869669G>T	ENST00000403263.1	-	11	2911	c.2507C>A	c.(2506-2508)cCg>cAg	p.P836Q	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	836					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGGGAGACGGCACATGCTC	0.507																																						uc002vaz.4																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(2506-2508)cCg>cAg		Homo sapiens INO80 complex subunit D (INO80D), mRNA.							254	241	245					2																	206869669		2150	4259	6409	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869669G>T		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2507C>A	2.37:g.206869669G>T	ENSP00000384198:p.Pro836Gln		Somatic					p.P836Q	NM_017759	NP_060229	WXS	Illumina GAIIx	Phase_I	Q53TQ3	IN80D_HUMAN			10	2912	-			836					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2507C>A	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376665	0.61735	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.38560	1.13	5.91	5.02	0.67125	.	0.166320	0.53938	D	0.000043	T	0.43211	0.1237	L	0.27053	0.805	0.58432	D	0.99999	D	0.60575	0.988	P	0.51101	0.659	T	0.43393	-0.9394	10	0.56958	D	0.05	.	17.0934	0.86627	0.0:0.1268:0.8732:0.0	.	836	Q53TQ3-2	.	Q	836	ENSP00000384198:P836Q	ENSP00000233270:P836Q	P	-	2	0	INO80D	206577914	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.230000	0.95299	1.482000	0.48325	-0.175000	0.13238	CCG		0.507	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		4	127	0	0	0	1	0	4	127					T	206869669	G	T	206869669	3	4	314	1	0	0	0	0	1	0	0	0	7749	1116	39	4	580	4	INO80D	2	206869669	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		206869669	36329704	1	5483											
ULK4	54986	broad.mit.edu	37	3	41723024	41723024	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr3:41723024G>A	ENST00000301831.4	-	29	3415	c.2953C>T	c.(2953-2955)Ctc>Ttc	p.L985F		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	985					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCTCGAATGAGAGCCAGAAGA	0.473																																						uc003ckv.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2953-2955)Ctc>Ttc		Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.							125	121	123					3																	41723024		1969	4147	6116	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41723024G>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"unc-51-like kinase 4 (C. elegans)"			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2953C>T	3.37:g.41723024G>A	ENSP00000301831:p.Leu985Phe		Somatic					p.L985F	NM_017886	NP_060356	WXS	Illumina GAIIx	Phase_I	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	28	3154	-			985					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2953C>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	g	19.41	3.822539	0.71028	.	.	ENSG00000168038	ENST00000301831	T	0.65916	-0.18	5.75	5.75	0.90469	Armadillo-type fold (1);	0.103984	0.39341	U	0.001390	T	0.70928	0.3280	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.61533	0.89	T	0.71354	-0.4618	10	0.54805	T	0.06	.	13.1821	0.59660	0.0727:0.0:0.9273:0.0	.	985	Q96C45	ULK4_HUMAN	F	985	ENSP00000301831:L985F	ENSP00000301831:L985F	L	-	1	0	ULK4	41698028	1.000000	0.71417	0.946000	0.38457	0.857000	0.48899	5.133000	0.64764	2.716000	0.92895	0.655000	0.94253	CTC		0.473	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		3	45	0	0	0	1	0	3	45					A	41723024	G	A	41723024	3	1	314	1	0	0	0	0	1	0	0	0	16975	942	33	2	910	2	ULK4	3	41723024	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		41723024	156299406	2	5484											
ARAP2	116984	broad.mit.edu	37	4	36069767	36069767	+	Missense_Mutation	SNP	C	C	T	rs149183264		TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr4:36069767C>T	ENST00000303965.4	-	33	5366	c.4877G>A	c.(4876-4878)cGa>cAa	p.R1626Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1626					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCGGGGTCGATTTCGAAG	0.502													C|||	1	0.000199681	0	0	5008	,	,		18475	0.001		0	False		,,,				2504	0					uc003gsq.2																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(4876-4878)cGa>cAa		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.		C	GLN/ARG	0,4406		0,0,2203	125	121	123		4877	6.0	0.7	4	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ARAP2	NM_015230.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1626/1705	36069767	1,13005	2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069767C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4877G>A	4.37:g.36069767C>T	ENSP00000302895:p.Arg1626Gln		Somatic				ARAP2_uc003gso.3_Intron	p.R1626Q	NM_015230	NP_056045	WXS	Illumina GAIIx	Phase_I	Q8WZ64	ARAP2_HUMAN			32	5215	-			1626					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.4877G>A	CCDS3441.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.7	4.182936	0.78677	0.0	1.16E-4	ENSG00000047365	ENST00000303965	T	0.10192	2.9	5.98	5.98	0.97165	.	0.075779	0.51477	D	0.000092	T	0.12987	0.0315	L	0.32530	0.975	0.34803	D	0.736885	D	0.63046	0.992	P	0.45794	0.493	T	0.03249	-1.1056	10	0.62326	D	0.03	.	15.9435	0.79776	0.0:1.0:0.0:0.0	.	1626	Q8WZ64	ARAP2_HUMAN	Q	1626	ENSP00000302895:R1626Q	ENSP00000302895:R1626Q	R	-	2	0	ARAP2	35746162	0.986000	0.35501	0.674000	0.29902	0.456000	0.32438	2.834000	0.48167	2.838000	0.97847	0.655000	0.94253	CGA		0.502	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		5	100	0	0	0	1	0	5	100					T	36069767	C	T	36069767	3	4	314	1	0	0	0	0	1	0	0	0	839	884	31	1	241	1	ARAP2	4	36069767	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		36069767	155084509	3	5485											
SYNPO2	171024	broad.mit.edu	37	4	119944588	119944588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr4:119944588C>T	ENST00000429713.2	+	2	291	c.109C>T	c.(109-111)Cga>Tga	p.R37*	SYNPO2_ENST00000448416.2_Nonsense_Mutation_p.R37*|SYNPO2_ENST00000307142.4_Nonsense_Mutation_p.R37*|SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.R37*	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	37	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CACTCAGATTCGAAATCAGAG	0.428																																						uc010inb.3																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(109-111)Cga>Tga		Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.							66	57	60					4																	119944588		2203	4300	6503	SO:0001587	stop_gained	171024					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119944588C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.109C>T	4.37:g.119944588C>T	ENSP00000395143:p.Arg37*		Somatic				SYNPO2_uc010ina.3_Nonsense_Mutation_p.R37*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.R37*|SYNPO2_uc011cgh.2_Nonsense_Mutation_p.R37*|SYNPO2_uc010inc.3_5'UTR	p.R37*	NM_133477	NP_597734	WXS	Illumina GAIIx	Phase_I	Q9UMS6	SYNP2_HUMAN			1	305	+			37			PDZ.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Nonsense_Mutation	SNP	ENST00000429713.2	37	c.109C>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	37	6.399451	0.97537	.	.	ENSG00000172403	ENST00000307142;ENST00000448416;ENST00000429713;ENST00000434046	.	.	.	5.66	4.81	0.61882	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6151	14.345	0.66654	0.1484:0.8516:0.0:0.0	.	.	.	.	X	37	.	ENSP00000306015:R37X	R	+	1	2	SYNPO2	120164036	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.696000	0.47052	1.365000	0.46057	0.650000	0.86243	CGA		0.428	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			10	15	0	0	0	1	0	10	15					T	119944588	C	T	119944588	4	4	314	1	0	0	0	0	0	1	0	0	15454	876	31	1	115	1	SYNPO2	4	119944588	Nonsense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08	83874821	119944588	71209688	4	5486											
MAP3K1	4214	broad.mit.edu	37	5	56180602	56180602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr5:56180602G>T	ENST00000399503.3	+	16	3931	c.3931G>T	c.(3931-3933)Gga>Tga	p.G1311*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TAGGATGTTGGGAGCCACGTG	0.363																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3931-3933)Gga>Tga		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							108	100	103					5																	56180602		1913	4136	6049	SO:0001587	stop_gained	4214				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56180602G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3931G>T	5.37:g.56180602G>T	ENSP00000382423:p.Gly1311*		Somatic					p.G1311*	NM_005921	NP_005912	WXS	Illumina GAIIx	Phase_I	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	15	4432	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1311			Protein kinase.			Nonsense_Mutation	SNP	ENST00000399503.3	37	c.3931G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	42	9.532869	0.99198	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7403	0.96228	0.0:0.0:1.0:0.0	.	.	.	.	X	1311	.	ENSP00000382423:G1311X	G	+	1	0	MAP3K1	56216359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.549000	0.90672	2.652000	0.90054	0.655000	0.94253	GGA		0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		3	49	0	0	0	1	0	3	49					T	56180602	G	T	56180602	4	4	314	1	0	0	0	0	0	1	0	0	9243	1233	43	4	3993	4	MAP3K1	5	56180602	Nonsense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08		56180602	124734658	5	5487											
PSAT1	29968	broad.mit.edu	37	9	80919787	80919787	+	Missense_Mutation	SNP	A	A	C			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr9:80919787A>C	ENST00000376588.3	+	4	396	c.328A>C	c.(328-330)Aag>Cag	p.K110Q	PSAT1_ENST00000347159.2_Missense_Mutation_p.K110Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	110					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TTGGTCAGCTAAGGCCGCAGA	0.507																																					Colon(34;187 791 10662 18313 37609)	uc004ala.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(328-330)Aag>Cag		Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						112	103	106					9																	80919787		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80919787A>C	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.328A>C	9.37:g.80919787A>C	ENSP00000365773:p.Lys110Gln		Somatic				PSAT1_uc004alb.3_Missense_Mutation_p.K110Q	p.K110Q	NM_058179	NP_478059	WXS	Illumina GAIIx	Phase_I	Q9Y617	SERC_HUMAN			3	396	+			110					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.328A>C	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019948	0.75275	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.66280	-0.2;-0.2	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.046935	0.85682	D	0.000000	T	0.80691	0.4671	M	0.85945	2.785	0.58432	D	0.999999	D;P	0.69078	0.997;0.86	D;B	0.67382	0.951;0.266	D	0.84230	0.0466	10	0.87932	D	0	-25.9967	15.8828	0.79216	1.0:0.0:0.0:0.0	.	110;110	Q9Y617-2;Q9Y617	.;SERC_HUMAN	Q	110	ENSP00000317606:K110Q;ENSP00000365773:K110Q	ENSP00000317606:K110Q	K	+	1	0	PSAT1	80109607	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	8.923000	0.92808	2.152000	0.67230	0.533000	0.62120	AAG		0.507	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		4	50	0	0	0	1	0	4	50					C	80919787	A	C	80919787	3	2	314	1	0	0	0	0	1	0	0	0	12644	363	13	5	342	5	PSAT1	9	80919787	Missense_Mutation	SNP	A	TCGA-ET-A39N-01A-11D-A19J-08		80919787	60293644	6	5488											
UBQLN3	50613	broad.mit.edu	37	11	5530553	5530553	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr11:5530553C>T	ENST00000311659.4	-	2	383	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	79	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGCACTCCACACTGTGCCAG	0.562																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(235-237)tGt>tAt		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							118	113	114					11																	5530553		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530553C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.236G>A	11.37:g.5530553C>T	ENSP00000347997:p.Cys79Tyr		Somatic				HBG1_uc001mak.1_Intron|UBQLN3_uc021qcw.1_Missense_Mutation_p.C79Y	p.C79Y	NM_017481	NP_059509	WXS	Illumina GAIIx	Phase_I	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	322	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	79			Ubiquitin-like.		Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.236G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947576	0.53186	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.64618	-0.11;-0.11	5.24	5.24	0.73138	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.49916	D	0.000139	T	0.47303	0.1438	N	0.01431	-0.87	0.43039	D	0.994627	B	0.29085	0.232	P	0.48795	0.59	T	0.53989	-0.8360	10	0.25106	T	0.35	-24.9506	10.1835	0.42984	0.0:0.9088:0.0:0.0912	.	79	Q9H347	UBQL3_HUMAN	Y	79	ENSP00000347997:C79Y;ENSP00000412561:C79Y	ENSP00000347997:C79Y	C	-	2	0	UBQLN3	5487129	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.843000	0.55865	2.629000	0.89072	0.484000	0.47621	TGT		0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		50	25	0	0	0	1	0	50	25					T	5530553	C	T	5530553	3	4	314	1	0	0	0	0	1	0	0	0	16895	478	17	2	1735	2	UBQLN3	11	5530553	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		5530553	129475963	7	5489											
OR5D18	219438	broad.mit.edu	37	11	55587399	55587399	+	Missense_Mutation	SNP	C	C	G	rs147156620		TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr11:55587399C>G	ENST00000333976.4	+	1	314	c.294C>G	c.(292-294)tgC>tgG	p.C98W		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433																																						uc010rin.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(292-294)tgC>tgG		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							203	203	203					11																	55587399		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587399C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.294C>G	11.37:g.55587399C>G	ENSP00000335025:p.Cys98Trp		Somatic					p.C98W	NM_001001952	NP_001001952	WXS	Illumina GAIIx	Phase_I	Q8NGL1	OR5DI_HUMAN			0	294	+		all_epithelial(135;0.208)	98					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.294C>G	CCDS31510.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	8.592	0.884887	0.17540	.	.	ENSG00000186119	ENST00000333976	T	0.00551	6.65	4.94	-5.17	0.02849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000680	T	0.03263	0.0095	H	0.98701	4.305	0.37293	D	0.908355	D	0.89917	1.0	D	0.97110	1.0	T	0.10706	-1.0618	10	0.87932	D	0	-31.9624	9.597	0.39580	0.0:0.5212:0.1199:0.3589	.	98	Q8NGL1	OR5DI_HUMAN	W	98	ENSP00000335025:C98W	ENSP00000335025:C98W	C	+	3	2	OR5D18	55343975	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.983000	0.03759	-0.871000	0.04042	-1.111000	0.02071	TGC		0.433	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		39	156	0	0	0	1	0	39	156					G	55587399	C	G	55587399	3	3	314	1	0	0	0	0	1	0	0	0	11157	776	27	4	296	4	OR5D18	11	55587399	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08	50056846	55587399	79419117	8	5490											
LETMD1	25875	broad.mit.edu	37	12	51442144	51442144	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr12:51442144C>T	ENST00000262055.4	+	1	44	c.5C>T	c.(4-6)gCg>gTg	p.A2V	LETMD1_ENST00000380123.2_Missense_Mutation_p.A2V|LETMD1_ENST00000552739.1_Missense_Mutation_p.A2V|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000418425.2_Missense_Mutation_p.A2V|LETMD1_ENST00000550929.1_5'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.A2V	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	2	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTGAAGATGGCGCTCTCCAGG	0.592											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009zlw.3																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(4-6)gCg>gTg		Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							90	99	96					12																	51442144		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442144C>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.5C>T	12.37:g.51442144C>T	ENSP00000262055:p.Ala2Val		Somatic	OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	977	LETMD1_uc010smz.2_Missense_Mutation_p.A2V|LETMD1_uc010sna.2_Missense_Mutation_p.A2V|LETMD1_uc001rxm.3_Missense_Mutation_p.A2V|LETMD1_uc001rxn.3_5'UTR|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_5'UTR|LETMD1_uc001rxt.3_5'Flank	p.A2V	NM_001243689	NP_001230618	WXS	Illumina GAIIx	Phase_I	Q6P1Q0	LTMD1_HUMAN			0	63	+			2			Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.5C>T	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045931	0.75846	.	.	ENSG00000050426	ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739	T;T;T;T;T;T;T;T;T	0.60672	0.58;0.48;0.17;0.35;0.29;0.39;0.48;0.56;0.35	4.69	4.69	0.59074	.	0.340919	0.29246	N	0.012712	T	0.65565	0.2703	L	0.34521	1.04	0.36848	D	0.887753	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;0.999;1.0;0.998	D;D;P;D;D;D;P	0.87578	0.998;0.996;0.695;0.996;0.991;0.996;0.771	T	0.71144	-0.4678	10	0.87932	D	0	-6.7628	13.4282	0.61039	0.0:1.0:0.0:0.0	.	2;2;2;2;2;2;2	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;F8VP71;Q6P1Q0	.;.;.;.;.;.;LTMD1_HUMAN	V	2	ENSP00000262055:A2V;ENSP00000448110:A2V;ENSP00000449896:A2V;ENSP00000450275:A2V;ENSP00000447166:A2V;ENSP00000369466:A2V;ENSP00000450082:A2V;ENSP00000389903:A2V;ENSP00000447419:A2V	ENSP00000262055:A2V	A	+	2	0	LETMD1	49728411	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.133000	0.50531	2.885000	0.99019	0.655000	0.94253	GCG		0.592	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		87	59	0	0	0	1	0	87	59					T	51442144	C	T	51442144	3	4	314	1	0	0	0	0	1	0	0	0	8736	768	27	1	7	1	LETMD1	12	51442144	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		51442144	82409751	9	5491											
CSPG4	1464	broad.mit.edu	37	15	75969141	75969141	+	Missense_Mutation	SNP	C	C	T	rs368180303		TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr15:75969141C>T	ENST00000308508.5	-	10	5811	c.5719G>A	c.(5719-5721)Gtg>Atg	p.V1907M	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1907	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				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						CCGTTGGCCACGAAGGCCAGC	0.672																																						uc002baw.3																			0		p.F1906F(1)		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.(5719-5721)Gtg>Atg		Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.		C	MET/VAL	0,4394		0,0,2197	29	30	30		5719	0.3	0.9	15		30	1,8583		0,1,4291	no	missense	CSPG4	NM_001897.4	21	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	benign	1907/2323	75969141	1,12977	2197	4292	6489	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.chr15:75969141C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5719G>A	15.37:g.75969141C>T	ENSP00000312506:p.Val1907Met		Somatic					p.V1907M	NM_001897	NP_001888	WXS	Illumina GAIIx	Phase_I	Q6UVK1	CSPG4_HUMAN			9	5812	-			1907			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5719G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495977	0.26774	0.0	1.16E-4	ENSG00000173546	ENST00000308508	T	0.24538	1.85	5.04	0.347	0.16022	.	0.969624	0.08452	N	0.943773	T	0.23210	0.0561	L	0.56769	1.78	0.09310	N	0.999999	B	0.27656	0.184	B	0.18871	0.023	T	0.27191	-1.0081	10	0.59425	D	0.04	.	6.5275	0.22309	0.0:0.5446:0.1265:0.3288	.	1907	Q6UVK1	CSPG4_HUMAN	M	1907	ENSP00000312506:V1907M	ENSP00000312506:V1907M	V	-	1	0	CSPG4	73756196	0.002000	0.14202	0.943000	0.38184	0.961000	0.63080	-0.078000	0.11375	0.161000	0.19458	0.555000	0.69702	GTG		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	11	0	0	0	1	0	4	11					T	75969141	C	T	75969141	3	4	314	1	0	0	0	0	1	0	0	0	3960	536	19	1	1253	1	CSPG4	15	75969141	Missense_Mutation	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		75969141	26562251	10	5492											
AXIN1	8312	broad.mit.edu	37	16	341240	341240	+	Silent	SNP	C	C	T			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr16:341240C>T	ENST00000262320.3	-	9	2615	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	AXIN1_ENST00000354866.3_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	748	Interaction with HIPK2. {ECO:0000250}.|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGTGCAGCACCGGCGCGCACG	0.692																																						uc002cgp.2																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(2242-2244)ccG>ccA		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							50	35	40					16																	341240		2166	4271	6437	SO:0001819	synonymous_variant	8312				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:341240C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2244G>A	16.37:g.341240C>T			Somatic				LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Intron	p.P748P	NM_003502	NP_003493	WXS	Illumina GAIIx	Phase_I	O15169	AXIN1_HUMAN			8	2633	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	748			Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.2244G>A	CCDS10405.1																																																																																				0.692	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			3	7	0	0	0	1	0	3	7					T	341240	C	T	341240	2	4	314	1	0	0	0	0	0	0	0	1	1236	639	23	1		1	AXIN1	16	341240	Silent	SNP	C	TCGA-ET-A39N-01A-11D-A19J-08		341240	90013513	11	5493											
KARS	3735	broad.mit.edu	37	16	75662486	75662486	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39N-01A-11D-A19J-08	TCGA-ET-A39N-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5904b857-04c7-404e-83b5-0d000ae43a35	5ab942e6-6a35-4b33-a4fa-8061207d8ec4	g.chr16:75662486G>A	ENST00000302445.3	-	13	1715	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	KARS_ENST00000319410.5_Missense_Mutation_p.T587M|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	559					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GTTGGAGTCCGTGAGAAACAT	0.552																																						uc002fer.3																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1759-1761)aCg>aTg		Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 1, mRNA.	L-Lysine(DB00123)						109	104	106					16																	75662486		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75662486G>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"Aminoacyl tRNA synthetases / Class II"	6215	protein-coding gene	gene with protein product	"lysine tRNA ligase"	601421	"deafness, autosomal recessive 89"	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1676C>T	16.37:g.75662486G>A	ENSP00000303043:p.Thr559Met		Somatic				KARS_uc002feq.3_Missense_Mutation_p.T559M	p.T587M	NM_001130089	NP_001123561	WXS	Illumina GAIIx	Phase_I	Q15046	SYK_HUMAN			13	1904	-			559					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1760C>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746502	0.89663	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.81330	-1.48;-1.48	6.16	6.16	0.99307	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96283	0.9208	10	0.87932	D	0	-5.1885	19.4379	0.94804	0.0:0.0:1.0:0.0	.	587;559	Q15046-2;Q15046	.;SYK_HUMAN	M	587;559	ENSP00000325448:T587M;ENSP00000303043:T559M	ENSP00000303043:T559M	T	-	2	0	KARS	74219987	1.000000	0.71417	0.992000	0.48379	0.878000	0.50629	9.747000	0.98863	2.937000	0.99478	0.650000	0.86243	ACG		0.552	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		3	53	0	0	0	1	0	3	53					A	75662486	G	A	75662486	3	1	314	1	0	0	0	0	1	0	0	0	7980	1145	40	1	125	1	KARS	16	75662486	Missense_Mutation	SNP	G	TCGA-ET-A39N-01A-11D-A19J-08	75321246	75662486	14692267	12	5494											
CDK11A	728642	broad.mit.edu	37	1	1636450	1636450	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:1636450G>C	ENST00000378633.1	-	13	1439	c.1360C>G	c.(1360-1362)Cta>Gta	p.L454V	CDK11A_ENST00000378638.2_Missense_Mutation_p.L417V|CDK11A_ENST00000356200.3_Missense_Mutation_p.L417V|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000358779.5_Missense_Mutation_p.L441V|CDK11A_ENST00000404249.3_Missense_Mutation_p.L451V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Missense_Mutation_p.L450V			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AGCCGCTTTAGAGCCACAATT	0.527																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1351-1353)Cta>Gta		Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.							72	106	95					1																	1636450		1862	4083	5945	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1636450G>C	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1360C>G	1.37:g.1636450G>C	ENSP00000367900:p.Leu454Val		Somatic				CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Missense_Mutation_p.L68V|CDK11B_uc009vkq.3_Non-coding_Transcript|CDK11B_uc009vkr.3_Missense_Mutation_p.L441V|CDK11B_uc010nys.2_Missense_Mutation_p.L441V|CDK11B_uc010nyt.1_Missense_Mutation_p.L451V	p.L451V	NM_024011	NP_076916	WXS	Illumina GAIIx	Phase_I	P21127	CD11B_HUMAN			12	1459	-			466			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1351C>G		.	.	.	.	.	.	.	.	.	.	-	7.607	0.674066	0.14841	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	2.6	1.66	0.24008	.	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	N	0.25426	0.745	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.974;0.974;0.994	D;D;D;D;D	0.76071	0.987;0.987;0.953;0.953;0.919	T	0.59069	-0.7523	10	0.87932	D	0	.	8.5687	0.33556	0.1224:0.0:0.8776:0.0	.	451;441;451;441;68	B4E0M9;B4E0N4;Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.;.;.	V	417;451;450;441;454;417;417	ENSP00000348529:L417V;ENSP00000384442:L451V;ENSP00000350403:L450V;ENSP00000351629:L441V;ENSP00000367900:L454V;ENSP00000367905:L417V	ENSP00000348529:L417V	L	-	1	2	CDK11A	1626310	0.750000	0.28316	1.000000	0.80357	0.098000	0.18820	0.712000	0.25779	0.435000	0.26365	0.531000	0.56144	CTA		0.527	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		34	61	0	0	0	1	0	34	61					C	1636450	G	C	1636450	3	2	315	1	0	0	0	0	1	0	0	0	3126	933	33	4	1023	4	CDK11A	1	1636450	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		1636450	247614171	1	5495											
TOR1AIP1	26092	broad.mit.edu	37	1	179887369	179887369	+	Silent	SNP	T	T	C			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr1:179887369T>C	ENST00000606911.2	+	10	1938	c.1747T>C	c.(1747-1749)Tta>Cta	p.L583L	TOR1AIP1_ENST00000528443.2_Silent_p.L584L|TOR1AIP1_ENST00000435319.4_Silent_p.L462L|TOR1AIP1_ENST00000271583.3_Silent_p.L599L			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	583	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGGCATCTGCTTATAAGAAGT	0.418																																						uc001gnq.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1747-1749)Tta>Cta		Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.							32	35	34					1																	179887369		2196	4284	6480	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179887369T>C		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1747T>C	1.37:g.179887369T>C			Somatic					p.L583L	NM_015602	NP_056417	WXS	Illumina GAIIx	Phase_I	Q5JTV8	TOIP1_HUMAN			9	1965	+			583					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.1747T>C	CCDS1335.1																																																																																				0.418	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		3	41	0	0	0	1	0	3	41					C	179887369	T	C	179887369	2	2	315	1	0	0	0	0	0	0	0	1	16369	1606	56	3		3	TOR1AIP1	1	179887369	Silent	SNP	T	TCGA-ET-A39O-01A-11D-A19J-08	178250919	179887369	69363252	2	5496											
MST1	63891	broad.mit.edu	37	3	49724384	49724384	+	5'Flank	SNP	C	C	G			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:49724384C>G	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.G167R|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.G242R|MST1_ENST00000545762.1_3'UTR|AC099668.5_ENST00000563780.1_RNA|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGTACTTGCCCGGCTCGAAG	0.697																																						uc003cxg.3																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(724-726)Ggc>Cgc		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.							11	13	13					3																	49724384		2083	4143	6226	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724384C>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724384C>G	Exception_encountered		Somatic				MST1_uc011bcs.1_Splice_Site_p.G242_splice|MST1_uc010hkx.2_Missense_Mutation_p.G163R|MST1_uc011bct.1_Missense_Mutation_p.G242R|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	p.G242R	NM_020998	NP_066278	WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	796	-			228			Kringle 2.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.724G>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403364	0.25291	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.65178	-0.14;-0.14	5.66	-2.85	0.05734	Kringle (4);Kringle-like fold (1);	0.998820	0.08099	N	0.998119	T	0.43567	0.1253	N	0.16656	0.425	0.30802	N	0.739733	B;B;B	0.28512	0.008;0.166;0.214	B;B;B	0.32583	0.041;0.148;0.091	T	0.44390	-0.9331	10	0.30854	T	0.27	.	8.8331	0.35096	0.0:0.3603:0.1022:0.5375	.	228;228;242	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	R	242;167	ENSP00000414287:G242R;ENSP00000373234:G167R	ENSP00000373234:G167R	G	-	1	0	MST1	49699388	0.000000	0.05858	0.077000	0.20336	0.429000	0.31625	-0.445000	0.06845	-0.417000	0.07461	-0.218000	0.12543	GGC		0.697	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		11	20	0	0	0	1	0	11	20					G	49724384	C	G	49724384	1	3	315	0	1	0	0	0	0	0	0	0	9890	623	22	4		4	MST1	3	49724384	5'Flank	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08		49724384	148298046	3	5497											
LAMP3	27074	broad.mit.edu	37	3	182871615	182871615	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr3:182871615G>A	ENST00000265598.3	-	2	869	c.614C>T	c.(613-615)gCt>gTt	p.A205V	LAMP3_ENST00000466939.1_Missense_Mutation_p.A181V	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	205	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GGCAGGTGCAGCTGTGCGGGT	0.547																																						uc003flh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(613-615)gCt>gTt		Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.							114	112	113					3																	182871615		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871615G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"CD molecules"	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.614C>T	3.37:g.182871615G>A	ENSP00000265598:p.Ala205Val		Somatic					p.A205V	NM_014398	NP_055213	WXS	Illumina GAIIx	Phase_I	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		1	838	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		205			Thr-rich.		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.614C>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	g	18.08	3.544307	0.65198	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.33865	1.39;1.39	5.81	3.08	0.35506	.	0.747577	0.12286	N	0.482415	T	0.35278	0.0926	M	0.64997	1.995	0.09310	N	1	P	0.34462	0.454	B	0.34138	0.176	T	0.23190	-1.0195	10	0.59425	D	0.04	-1.5306	8.0317	0.30470	0.2508:0.0:0.7492:0.0	.	205	Q9UQV4	LAMP3_HUMAN	V	205;181	ENSP00000265598:A205V;ENSP00000418912:A181V	ENSP00000265598:A205V	A	-	2	0	LAMP3	184354309	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	1.496000	0.35638	0.377000	0.24735	0.655000	0.94253	GCT		0.547	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			4	105	0	0	0	1	0	4	105					A	182871615	G	A	182871615	3	1	315	1	0	0	0	0	1	0	0	0	8619	971	34	2	656	2	LAMP3	3	182871615	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08	133147231	182871615	15150815	4	5498											
GALNT7	51809	broad.mit.edu	37	4	174169178	174169178	+	Silent	SNP	A	A	G			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr4:174169178A>G	ENST00000265000.4	+	2	257	c.174A>G	c.(172-174)ggA>ggG	p.G58G	GALNT7_ENST00000512285.1_Silent_p.G58G	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	58					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GCGGCAATGGACTAGCTCCTG	0.478																																						uc003isz.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(172-174)ggA>ggG		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.							73	69	70					4																	174169178		2203	4300	6503	SO:0001819	synonymous_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174169178A>G	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.174A>G	4.37:g.174169178A>G			Somatic					p.G58G	NM_017423	NP_059119	WXS	Illumina GAIIx	Phase_I	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	1	257	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	58					B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	ENST00000265000.4	37	c.174A>G	CCDS3815.1																																																																																				0.478	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		5	73	0	0	0	1	0	5	73					G	174169178	A	G	174169178	2	3	315	1	0	0	0	0	0	0	0	1	6218	262	10	3		3	GALNT7	4	174169178	Silent	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08		174169178	16985098	5	5499											
PLK2	10769	broad.mit.edu	37	5	57751948	57751948	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr5:57751948G>A	ENST00000274289.3	-	10	1589	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	430					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GGGTGTTCCAGACCTGGCAAC	0.473																																						uc003jrn.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1288-1290)tCt>tTt		Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.							100	95	97					5																	57751948		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751948G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1289C>T	5.37:g.57751948G>A	ENSP00000274289:p.Ser430Phe		Somatic				PLK2_uc021xyx.1_Missense_Mutation_p.S416F	p.S430F	NM_006622	NP_006613	WXS	Illumina GAIIx	Phase_I	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	9	1469	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	430					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.1289C>T	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100871	0.76983	.	.	ENSG00000145632	ENST00000274289	T	0.68479	-0.33	5.88	5.88	0.94601	.	0.364927	0.34338	N	0.004043	T	0.59824	0.2222	L	0.42245	1.32	0.48696	D	0.999698	P	0.34780	0.468	B	0.28139	0.086	T	0.60647	-0.7222	10	0.48119	T	0.1	-12.6282	18.4227	0.90597	0.0:0.0:1.0:0.0	.	430	Q9NYY3	PLK2_HUMAN	F	430	ENSP00000274289:S430F	ENSP00000274289:S430F	S	-	2	0	PLK2	57787705	1.000000	0.71417	0.819000	0.32651	0.967000	0.64934	7.031000	0.76491	2.788000	0.95919	0.650000	0.86243	TCT		0.473	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		5	79	0	0	0	1	0	5	79					A	57751948	G	A	57751948	3	1	315	1	0	0	0	0	1	0	0	0	12096	942	33	2	788	2	PLK2	5	57751948	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		57751948	123163312	6	5500											
DSE	29940	broad.mit.edu	37	6	116758279	116758279	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr6:116758279C>T	ENST00000331677.3	+	7	3092	c.2648C>T	c.(2647-2649)gCa>gTa	p.A883V	DSE_ENST00000452085.3_Missense_Mutation_p.A883V|DSE_ENST00000359564.2_Missense_Mutation_p.A883V|DSE_ENST00000537543.1_Missense_Mutation_p.A902V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	883					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTGGACAGGCACGGATGGTG	0.418																																						uc011ebg.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2704-2706)gCa>gTa		Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.							134	115	121					6																	116758279		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758279C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2648C>T	6.37:g.116758279C>T	ENSP00000332151:p.Ala883Val		Somatic				DSE_uc003pws.3_Missense_Mutation_p.A883V|DSE_uc003pwt.3_Missense_Mutation_p.A883V|DSE_uc003pwu.3_Missense_Mutation_p.A550V	p.A902V	NM_013352	NP_037484	WXS	Illumina GAIIx	Phase_I	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	5	2804	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	883					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2705C>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405581	0.01155	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.16897	2.32;2.31;2.32;2.32	5.94	-0.22	0.13130	.	0.438786	0.26153	N	0.026035	T	0.01835	0.0058	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44498	-0.9324	10	0.28530	T	0.3	0.2808	2.5329	0.04707	0.1196:0.5118:0.1159:0.2527	.	902;883	B7Z765;Q9UL01	.;DSE_HUMAN	V	883;902;883;883	ENSP00000404049:A883V;ENSP00000441152:A902V;ENSP00000332151:A883V;ENSP00000352567:A883V	ENSP00000332151:A883V	A	+	2	0	DSE	116864972	0.653000	0.27358	0.007000	0.13788	0.029000	0.11900	1.182000	0.32029	-0.357000	0.08175	-0.142000	0.14014	GCA		0.418	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		37	56	0	0	0	1	0	37	56					T	116758279	C	T	116758279	3	4	315	1	0	0	0	0	1	0	0	0	4774	710	25	2	2666	2	DSE	6	116758279	Missense_Mutation	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08		116758279	54356788	7	5501											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	62	0	0	0	1	0	23	62					T	140453136	A	T	140453136	3	4	315	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08		140453136	18685527	8	5502											
SSPO	23145	broad.mit.edu	37	7	149494406	149494406	+	RNA	SNP	G	G	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr7:149494406G>T	ENST00000378016.2	+	0	6877							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)			TGCCCAGCCGGGGCAGCTGCT	0.662																																						uc010lpk.3																			0											c.(6868-6870)Ggg>Tgg		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							46	53	50					7																	149494406		1992	4150	6142			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149494406G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149494406G>T			Somatic					p.G2290W	NM_198455	NP_940857	WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		45	6868	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2293					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6868G>T																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	46	0	0	0	1	0	3	46					T	149494406	G	T	149494406	1	4	315	0	1	0	0	0	0	0	0	0	15188	1232	43	4		4	SSPO	7	149494406	RNA	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08	9041270	149494406	9644257	9	5503											
TBC1D2	55357	broad.mit.edu	37	9	100961815	100961815	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr9:100961815G>A	ENST00000375066.5	-	13	2693	c.2602C>T	c.(2602-2604)Cgg>Tgg	p.R868W	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R419W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R661W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	879					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.R868W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCAGCTGCCGCAGCTGTTTC	0.637																																						uc011lvb.2																			1	Substitution - Missense(1)	p.R868W(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2635-2637)Cgg>Tgg		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							134	139	137					9																	100961815		2203	4299	6502	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961815G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2602C>T	9.37:g.100961815G>A	ENSP00000364207:p.Arg868Trp		Somatic				TBC1D2_uc004ayp.3_Missense_Mutation_p.R419W|TBC1D2_uc004ayq.3_Missense_Mutation_p.R868W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R661W	p.R879W	NM_018421	NP_060891	WXS	Illumina GAIIx	Phase_I	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	12	2815	-		Myeloproliferative disorder(762;0.0255)	879					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2635C>T	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300297	0.60195	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.09911	2.93;3.38;3.01	5.51	3.51	0.40186	.	0.272292	0.34603	N	0.003838	T	0.13372	0.0324	M	0.76328	2.33	0.30554	N	0.765152	B;P	0.35982	0.396;0.531	B;B	0.31495	0.062;0.131	T	0.09335	-1.0679	10	0.87932	D	0	.	10.2646	0.43447	0.0824:0.0:0.757:0.1607	.	879;868	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	868;661;419	ENSP00000364207:R868W;ENSP00000341567:R661W;ENSP00000364203:R419W	ENSP00000341567:R661W	R	-	1	2	TBC1D2	100001636	0.025000	0.19082	0.986000	0.45419	0.658000	0.38924	0.841000	0.27613	1.330000	0.45394	0.511000	0.50034	CGG		0.637	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		7	151	0	0	0	1	0	7	151					A	100961815	G	A	100961815	3	1	315	1	0	0	0	0	1	0	0	0	15605	1086	38	1	155	1	TBC1D2	9	100961815	Missense_Mutation	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		100961815	40251616	10	5504											
DCAF5	8816	broad.mit.edu	37	14	69522320	69522320	+	Silent	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:69522320G>A	ENST00000341516.5	-	9	1230	c.1083C>T	c.(1081-1083)agC>agT	p.S361S	DCAF5_ENST00000557386.1_Silent_p.S360S|DCAF5_ENST00000554215.1_Silent_p.S279S|DCAF5_ENST00000556847.1_Silent_p.S279S|DCAF5_ENST00000553293.1_5'UTR	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	361					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTTGTATGGGCTCCAGATCT	0.473																																						uc001xkp.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(1081-1083)agC>agT		Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.							113	114	114					14																	69522320		2203	4300	6503	SO:0001819	synonymous_variant	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69522320G>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1083C>T	14.37:g.69522320G>A			Somatic				DCAF5_uc001xkq.3_Silent_p.S360S	p.S361S	NM_003861	NP_003852	WXS	Illumina GAIIx	Phase_I	Q96JK2	DCAF5_HUMAN			8	1302	-			361					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	c.1083C>T	CCDS32106.1																																																																																				0.473	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		47	74	0	0	0	1	0	47	74					A	69522320	G	A	69522320	2	1	315	1	0	0	0	0	0	0	0	1	4273	1194	42	2		2	DCAF5	14	69522320	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		69522320	37827220	11	5505											
PPP2R5C	5527	broad.mit.edu	37	14	102276323	102276323	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr14:102276323C>T	ENST00000334743.5	+	1	92	c.44C>T	c.(43-45)gCg>gTg	p.A15V	PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000556946.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000554442.1_Intron|PPP2R5C_ENST00000557714.1_Missense_Mutation_p.A15V|CTD-2017C7.2_ENST00000554859.1_RNA|PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000556068.1_Intron	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	15					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTGGTGGATGCGGCCAACTCC	0.498																																						uc001yko.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(43-45)gCg>gTg		Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.							146	126	133					14																	102276323		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102276323C>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.44C>T	14.37:g.102276323C>T	ENSP00000333905:p.Ala15Val		Somatic				PPP2R5C_uc001ykj.4_Intron|PPP2R5C_uc010txr.2_Intron|PPP2R5C_uc001ykk.3_Intron|PPP2R5C_uc010txt.2_Missense_Mutation_p.A5V|PPP2R5C_uc001ykn.3_Missense_Mutation_p.A15V|PPP2R5C_uc001ykp.3_Missense_Mutation_p.A15V|PPP2R5C_uc010txs.1_Missense_Mutation_p.A5V	p.A15V	NM_002719	NP_002710	WXS	Illumina GAIIx	Phase_I	Q13362	2A5G_HUMAN			0	184	+			15					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.44C>T	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032136	0.75504	.	.	ENSG00000078304	ENST00000350249;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T	0.46819	0.87;0.86	5.63	5.63	0.86233	.	.	.	.	.	T	0.51058	0.1652	N	0.10972	0.075	0.80722	D	1	D;D;B;D	0.76494	0.986;0.999;0.0;0.992	P;D;B;D	0.71184	0.835;0.972;0.0;0.921	T	0.53535	-0.8425	9	0.30078	T	0.28	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	15;15;15;15	B4DI74;Q13362-3;Q13362;Q13362-2	.;.;2A5G_HUMAN;.	V	15	ENSP00000262239:A15V;ENSP00000333905:A15V	ENSP00000333905:A15V	A	+	2	0	PPP2R5C	101346076	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.375000	0.66173	2.652000	0.90054	0.655000	0.94253	GCG		0.498	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		3	50	0	0	0	1	0	3	50					T	102276323	C	T	102276323	3	4	315	1	0	0	0	0	1	0	0	0	12394	768	27	1	317	1	PPP2R5C	14	102276323	Missense_Mutation	SNP	C	TCGA-ET-A39O-01A-11D-A19J-08	32754003	102276323	5073217	12	5506											
MYBBP1A	10514	broad.mit.edu	37	17	4443214	4443214	+	Silent	SNP	G	G	A			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chr17:4443214G>A	ENST00000254718.4	-	26	3789	c.3483C>T	c.(3481-3483)acC>acT	p.T1161T	MYBBP1A_ENST00000381556.2_Silent_p.T1161T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1161	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGGGGCTCTGGGTGGCACTGG	0.572																																						uc002fxz.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3481-3483)acC>acT		Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.							81	88	86					17																	4443214		2203	4298	6501	SO:0001819	synonymous_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443214G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3483C>T	17.37:g.4443214G>A			Somatic				MYBBP1A_uc002fyb.4_Silent_p.T1161T|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.4_Silent_p.T106T|MYBBP1A_uc010vsa.2_Silent_p.T203T	p.T1161T	NM_001105538	NP_001099008	WXS	Illumina GAIIx	Phase_I	Q9BQG0	MBB1A_HUMAN			25	3545	-			1161			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Silent	SNP	ENST00000254718.4	37	c.3483C>T	CCDS11046.1																																																																																				0.572	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		13	133	0	0	0	1	0	13	133					A	4443214	G	A	4443214	2	1	315	1	0	0	0	0	0	0	0	1	10008	1219	43	2		2	MYBBP1A	17	4443214	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		4443214	76751996	13	5507											
SYTL4	94121	broad.mit.edu	37	X	99933584	99933584	+	Silent	SNP	G	G	A	rs144944700	byFrequency	TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:99933584G>A	ENST00000372989.1	-	18	2002	c.1671C>T	c.(1669-1671)ccC>ccT	p.P557P	SYTL4_ENST00000276141.6_Silent_p.P557P|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000263033.5_Silent_p.P557P|SYTL4_ENST00000454200.2_Silent_p.P559P|SYTL4_ENST00000455616.1_Silent_p.P557P	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	557	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TGTTCCTCATGGGAAGGAGGT	0.493													G|||	5	0.0013245	0	0	3775	,	,		14941	0		0.001	False		,,,				2504	0.0041					uc004egd.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1669-1671)ccC>ccT		Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	,,	3,3832		0,3,0,1629,571	115	97	103		1671,1671,1671	-2.1	1.0	X	dbSNP_134	103	14,6714		0,8,6,2420,1866	no	coding-synonymous,coding-synonymous,coding-synonymous	SYTL4	NM_001129896.2,NM_001174068.1,NM_080737.2	,,	0,11,6,4049,2437	AA,AG,A,GG,G		0.2081,0.0782,0.1609	,,	557/672,557/672,557/672	99933584	17,10546	2203	4300	6503	SO:0001819	synonymous_variant	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding	g.chrX:99933584G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1671C>T	X.37:g.99933584G>A			Somatic				SYTL4_uc004egc.3_5'UTR|SYTL4_uc010nnb.3_Silent_p.P229P|SYTL4_uc010nnc.3_Silent_p.P557P|SYTL4_uc004ege.4_Silent_p.P557P|SYTL4_uc004egf.4_Silent_p.P557P	p.P557P	NM_080737	NP_542775	WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			17	2027	-			557			C2 2.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	c.1671C>T	CCDS14472.1																																																																																				0.493	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		3	56	0	0	0	1	0	3	56					A	99933584	G	A	99933584	2	1	315	1	0	0	0	0	0	0	0	1	15482	1335	47	2		2	SYTL4	23	99933584	Silent	SNP	G	TCGA-ET-A39O-01A-11D-A19J-08		99933584	55336976	14	5508											
DCAF12L2	340578	broad.mit.edu	37	X	125299510	125299510	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A39O-01A-11D-A19J-08	TCGA-ET-A39O-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11507a1-daee-4179-b87d-4f05601ef99f	6d9a552a-0047-4d57-bb65-6ebfd311a994	g.chrX:125299510A>T	ENST00000360028.2	-	1	424	c.398T>A	c.(397-399)aTc>aAc	p.I133N	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.I133N			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	133										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CATGAGGGGGATGCGCGTGAT	0.642																																						uc004euk.2																			0		p.R132L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(397-399)aTc>aAc		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							88	82	84					X																	125299510		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299510A>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.398T>A	X.37:g.125299510A>T	ENSP00000353128:p.Ile133Asn		Somatic					p.I133N	NM_001013628	NP_001013650	WXS	Illumina GAIIx	Phase_I	Q5VW00	DC122_HUMAN			0	571	-			133					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.398T>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	a	11.58	1.682049	0.29872	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.38240	1.15;1.15	3.89	2.69	0.31865	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.48607	0.1509	M	0.82716	2.605	0.32600	N	0.526046	D	0.61080	0.989	P	0.52189	0.692	T	0.61098	-0.7131	9	0.72032	D	0.01	.	6.4507	0.21902	0.752:0.248:0.0:0.0	.	133	Q5VW00	DC122_HUMAN	N	133	ENSP00000441489:I133N;ENSP00000353128:I133N	ENSP00000353128:I133N	I	-	2	0	DCAF12L2	125127191	1.000000	0.71417	0.019000	0.16419	0.004000	0.04260	7.273000	0.78527	0.633000	0.30452	0.438000	0.28831	ATC		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		4	55	0	0	0	1	0	4	55					T	125299510	A	T	125299510	3	4	315	1	0	0	0	0	1	0	0	0	4265	333	12	5	997	5	DCAF12L2	23	125299510	Missense_Mutation	SNP	A	TCGA-ET-A39O-01A-11D-A19J-08	25365926	125299510	29971050	15	5509											
DMRTB1	63948	broad.mit.edu	37	1	53927304	53927304	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:53927304C>A	ENST00000371445.3	+	2	791	c.736C>A	c.(736-738)Caa>Aaa	p.Q246K	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	246	Pro-rich.				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)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAGCCAGTACCAAGGCGGAGG	0.662																																						uc001cvq.1																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(736-738)Caa>Aaa		Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.							41	42	42					1																	53927304		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53927304C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.736C>A	1.37:g.53927304C>A	ENSP00000360500:p.Gln246Lys		Somatic					p.Q246K	NM_033067	NP_149056	WXS	Illumina GAIIx	Phase_I	Q96MA1	DMRTB_HUMAN			1	791	+			246			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.736C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936642	0.18206	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.28666	1.6	5.01	4.1	0.47936	.	0.920532	0.09200	N	0.834795	T	0.22399	0.0540	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.28038	-1.0056	10	0.02654	T	1	-1.1052	11.0587	0.47933	0.1848:0.8152:0.0:0.0	.	246	Q96MA1	DMRTB_HUMAN	K	246;93	ENSP00000360500:Q246K	ENSP00000360500:Q246K	Q	+	1	0	DMRTB1	53699892	0.000000	0.05858	0.087000	0.20705	0.929000	0.56500	0.382000	0.20635	1.484000	0.48361	0.655000	0.94253	CAA		0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			19	20	0	0	0	1	0	19	20					A	53927304	C	A	53927304	3	1	316	1	0	0	0	0	1	0	0	0	4590	595	21	4	742	4	DMRTB1	1	53927304	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08		53927304	195323317	1	5510											
C1orf146	388649	broad.mit.edu	37	1	92711147	92711147	+	Silent	SNP	T	T	G			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:92711147T>G	ENST00000370375.3	+	6	607	c.459T>G	c.(457-459)gcT>gcG	p.A153A	C1orf146_ENST00000370373.2_Silent_p.A94A	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	153										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TGATAACAGCTAAAGCTTACA	0.328																																						uc001doq.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(457-459)gcT>gcG		Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA.							81	82	82					1																	92711147		2203	4296	6499	SO:0001819	synonymous_variant	388649							g.chr1:92711147T>G		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.459T>G	1.37:g.92711147T>G			Somatic				C1orf146_uc010ote.2_Silent_p.A94A	p.A153A	NM_001012425	NP_001012425	WXS	Illumina GAIIx	Phase_I	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	5	531	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	153					Q5VVC4	Silent	SNP	ENST00000370375.3	37	c.459T>G	CCDS30772.1																																																																																				0.328	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		23	38	0	0	0	1	0	23	38					G	92711147	T	G	92711147	2	3	316	1	0	0	0	0	0	0	0	1	2003	1509	53	5		5	C1orf146	1	92711147	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	38783843	92711147	156539474	2	5511											
ADAR	103	broad.mit.edu	37	1	154574423	154574423	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:154574423C>T	ENST00000368474.4	-	2	894	c.695G>A	c.(694-696)aGa>aAa	p.R232K	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.R275K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	232					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGTGGAGTTTCTGTCTTCCGG	0.527																																						uc001ffh.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(694-696)aGa>aAa		Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.							85	89	88					1																	154574423		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574423C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.695G>A	1.37:g.154574423C>T	ENSP00000357459:p.Arg232Lys		Somatic				ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.R232K|ADAR_uc001ffi.3_Missense_Mutation_p.R232K|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	p.R232K	NM_001111	NP_001180424	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	1	937	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		232					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.695G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	2.655	-0.280973	0.05642	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11277	2.79;2.8;2.82	1.96	1.96	0.26148	.	0.412136	0.17037	U	0.189462	T	0.02494	0.0076	L	0.38175	1.15	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.015	B;B;B	0.15052	0.012;0.012;0.005	T	0.43442	-0.9391	10	0.17369	T	0.5	.	9.4394	0.38659	0.0:1.0:0.0:0.0	.	232;232;232	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	K	275;232;227	ENSP00000292205:R275K;ENSP00000357459:R232K;ENSP00000431794:R227K	ENSP00000292205:R275K	R	-	2	0	ADAR	152841047	0.007000	0.16637	0.037000	0.18230	0.348000	0.29142	0.216000	0.17585	1.385000	0.46445	0.313000	0.20887	AGA		0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		32	86	0	0	0	1	0	32	86					T	154574423	C	T	154574423	3	4	316	1	0	0	0	0	1	0	0	0	281	913	32	2	3041	2	ADAR	1	154574423	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08	61863276	154574423	94676198	3	5512											
EDEM3	80267	broad.mit.edu	37	1	184671950	184671950	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr1:184671950T>C	ENST00000318130.8	-	19	2650	c.2384A>G	c.(2383-2385)gAt>gGt	p.D795G	EDEM3_ENST00000367512.3_Missense_Mutation_p.D752G|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	795					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTACCTCGATCTTTTGCTTT	0.373																																						uc010pom.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2383-2385)gAt>gGt		Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.							105	95	98					1																	184671950		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184671950T>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2384A>G	1.37:g.184671950T>C	ENSP00000318147:p.Asp795Gly		Somatic				EDEM3_uc010pok.2_Missense_Mutation_p.D795G|EDEM3_uc010pol.2_Non-coding_Transcript	p.D795G	NM_025191	NP_079467	WXS	Illumina GAIIx	Phase_I	Q9BZQ6	EDEM3_HUMAN			18	2645	-			795					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.2384A>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234185	0.58886	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.73897	-0.78;-0.79	4.89	4.89	0.63831	.	0.052949	0.64402	D	0.000001	T	0.64360	0.2591	L	0.34521	1.04	0.80722	D	1	P	0.36282	0.546	B	0.32980	0.156	T	0.68884	-0.5291	10	0.59425	D	0.04	.	14.8348	0.70175	0.0:0.0:0.0:1.0	.	795	Q9BZQ6	EDEM3_HUMAN	G	795;752	ENSP00000318147:D795G;ENSP00000356482:D752G	ENSP00000318147:D795G	D	-	2	0	EDEM3	182938573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.178000	0.77657	1.969000	0.57287	0.533000	0.62120	GAT		0.373	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		16	34	0	0	0	1	0	16	34					C	184671950	T	C	184671950	3	2	316	1	0	0	0	0	1	0	0	0	4913	1435	50	3	422	3	EDEM3	1	184671950	Missense_Mutation	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	30097527	184671950	64578671	4	5513											
KRTCAP3	200634	broad.mit.edu	37	2	27666263	27666263	+	Splice_Site	SNP	A	A	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr2:27666263A>C	ENST00000543753.1	+	5	527		c.e5-1		KRTCAP3_ENST00000407293.1_Splice_Site|KRTCAP3_ENST00000288873.3_Splice_Site	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CTTGCTTTTCAGGATACAGCC	0.517																																						uc002rks.3																			0				large_intestine(1)|lung(2)	3						c.e5-2		Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.							126	111	116					2																	27666263		2203	4300	6503	SO:0001630	splice_region_variant	200634					integral to membrane		g.chr2:27666263A>C	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.481-1A>C	2.37:g.27666263A>C			Somatic				KRTCAP3_uc010ylr.2_Splice_Site_p.D161_splice|KRTCAP3_uc021vfd.1_Splice_Site_p.D161_splice|KRTCAP3_uc002rkt.3_Splice_Site_p.D143_splice	p.D161_splice	NM_173853	NP_776252	WXS	Illumina GAIIx	Phase_I	Q53RY4	KCP3_HUMAN			5	528	+	Acute lymphoblastic leukemia(172;0.155)		161					B7ZL49|Q6UW42|Q8IWS5	Splice_Site	SNP	ENST00000543753.1	37	c.481_splice	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731792	0.69189	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0081	0.71527	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KRTCAP3	27519767	1.000000	0.71417	0.927000	0.36925	0.833000	0.47200	7.905000	0.87416	2.228000	0.72767	0.459000	0.35465	.		0.517	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853	Intron	48	74	0	0	0	1	0	48	74					C	27666263	A	C	27666263	5	2	316	1	0	0	0	0	0	0	1	0	8579	202	7	5	497	5	KRTCAP3	2	27666263	Splice_Site	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		27666263	215533110	5	5514											
TTLL3	26140	broad.mit.edu	37	3	9876847	9876847	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:9876847G>C	ENST00000547186.1	+	13	2209	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.E808Q|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	665					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TTTGAAGTCGGAACAATTCCT	0.587																																						uc003btg.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1993-1995)Gaa>Caa		Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.							96	101	99					3																	9876847		2048	4199	6247	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9876847G>C		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1993G>C	3.37:g.9876847G>C	ENSP00000446659:p.Glu665Gln		Somatic				TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR	p.E665Q	NM_001025930	NP_001021100	WXS	Illumina GAIIx	Phase_I	Q9Y4R7	TTLL3_HUMAN			12	2469	+	Medulloblastoma(99;0.227)		665					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.1993G>C		.	.	.	.	.	.	.	.	.	.	G	6.485	0.457616	0.12342	.	.	ENSG00000214021	ENST00000426895;ENST00000547186	T;T	0.05996	3.36;3.49	3.96	3.06	0.35304	.	27.729100	0.00682	U	0.000699	T	0.06645	0.0170	N	0.22421	0.69	0.20764	N	0.999857	B	0.14438	0.01	B	0.12837	0.008	T	0.34054	-0.9844	10	0.25106	T	0.35	.	9.6199	0.39714	0.0:0.2126:0.7874:0.0	.	665	Q9Y4R7	TTLL3_HUMAN	Q	808;665	ENSP00000392549:E808Q;ENSP00000446659:E665Q	ENSP00000392549:E808Q	E	+	1	0	TTLL3	9851847	0.041000	0.20044	0.020000	0.16555	0.181000	0.23173	0.902000	0.28459	1.216000	0.43427	0.561000	0.74099	GAA		0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		16	55	0	0	0	1	0	16	55					C	9876847	G	C	9876847	3	2	316	1	0	0	0	0	1	0	0	0	16725	1175	41	4	2039	4	TTLL3	3	9876847	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		9876847	188145583	6	5515											
ATP2B2	491	broad.mit.edu	37	3	10413502	10413502	+	Silent	SNP	G	G	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr3:10413502G>C	ENST00000352432.4	-	11	1719	c.1650C>G	c.(1648-1650)acC>acG	p.T550T	ATP2B2_ENST00000360273.2_Silent_p.T550T|ATP2B2_ENST00000383800.4_Silent_p.T505T|ATP2B2_ENST00000343816.4_Silent_p.T536T|ATP2B2_ENST00000397077.1_Silent_p.T505T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	550					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGAATCTTGGTGGTGTAGG	0.532																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1648-1650)acC>acG		Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.							131	112	118					3																	10413502		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	g.chr3:10413502G>C	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1650C>G	3.37:g.10413502G>C			Somatic				ATP2B2_uc003bvv.3_Silent_p.T505T|ATP2B2_uc003bvw.3_Silent_p.T505T|ATP2B2_uc010hdo.3_Silent_p.T255T	p.T550T	NM_001001331	NP_001001331	WXS	Illumina GAIIx	Phase_I	Q01814	AT2B2_HUMAN			11	2089	-			550					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1650C>G	CCDS33701.1																																																																																				0.532	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		12	31	0	0	0	1	0	12	31					C	10413502	G	C	10413502	2	2	316	1	0	0	0	0	0	0	0	1	1140	1335	47	4		4	ATP2B2	3	10413502	Silent	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08	536655	10413502	187608928	7	5516											
IL7R	3575	broad.mit.edu	37	5	35874644	35874644	+	Splice_Site	SNP	G	G	T			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr5:35874644G>T	ENST00000303115.3	+	6	929	c.800G>T	c.(799-801)aGg>aTg	p.R267M	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	267					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGGAAAAAAAGGTGACCTTCT	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															uc003jjs.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.e6+1		Homo sapiens interleukin 7 receptor (IL7R), mRNA.							161	143	149					5																	35874644		2203	4300	6503	SO:0001630	splice_region_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35874644G>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.800+1G>T	5.37:g.35874644G>T			Somatic				IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	p.R267_splice	NM_002185	NP_002176	WXS	Illumina GAIIx	Phase_I	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		6	889	+	all_lung(31;0.00015)		267					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Splice_Site	SNP	ENST00000303115.3	37	c.800_splice	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387243	0.82902	.	.	ENSG00000168685	ENST00000303115	T	0.26373	1.74	5.97	5.97	0.96955	.	0.067296	0.56097	D	0.000025	T	0.48822	0.1521	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.41627	-0.9498	10	0.87932	D	0	-11.8377	15.9389	0.79739	0.0:0.0:1.0:0.0	.	267	P16871	IL7RA_HUMAN	M	267	ENSP00000306157:R267M	ENSP00000306157:R267M	R	+	2	0	IL7R	35910401	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.942000	0.63547	2.836000	0.97738	0.655000	0.94253	AGG		0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		Missense_Mutation	33	51	0	0	0	1	0	33	51					T	35874644	G	T	35874644	5	4	316	1	0	0	0	0	0	0	1	0	7705	1014	35	4	822	4	IL7R	5	35874644	Splice_Site	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		35874644	145040616	8	5517											
SLC35F1	222553	broad.mit.edu	37	6	118228990	118228992	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr6:118228990_118228992delGCG	ENST00000360388.4	+	1	302_304	c.101_103delGCG	c.(100-105)agcggc>agc	p.G38del		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	38					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCCGAGGGCAGCGGCGGCGGCGG	0.744																																						uc003pxx.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(100-105)agcggc>agc		Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.																																				SO:0001651	inframe_deletion	222553				transport	integral to membrane		g.chr6:118228990_118228992delGCG	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.101_103delGCG	6.37:g.118228999_118229001delGCG	ENSP00000353557:p.Gly38del		Somatic					p.G38del	NM_001029858	NP_001025029	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	0	302_304	+			38					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	In_Frame_Del	DEL	ENST00000360388.4	37	c.101_103delGCG	CCDS34524.1																																																																																				0.744	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		3	4						3	4	---	---	---	---	-	118228992	GCG	-	118228990	7	5	316	1	0	1	0	1	0	0	0	0	14588	971	34	0	103	0	SLC35F1	6	118228990	In_Frame_Del	DEL	GCG	TCGA-ET-A39P-01A-21D-A19J-08		118228990	52886077	9	5518											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	36	0	0	0	1	0	23	36					T	140453136	A	T	140453136	3	4	316	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		140453136	18685527	10	5519											
CSMD3	114788	broad.mit.edu	37	8	113358377	113358377	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr8:113358377A>G	ENST00000297405.5	-	41	6635	c.6391T>C	c.(6391-6393)Tat>Cat	p.Y2131H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2091H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2061H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2027H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2131	CUB 12. {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						CTGCTGGGATAGTTTCCAGGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			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.(6391-6393)Tat>Cat		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							115	116	116					8																	113358377		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358377A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6391T>C	8.37:g.113358377A>G	ENSP00000297405:p.Tyr2131His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Missense_Mutation_p.Y1333H|CSMD3_uc003ynt.3_Missense_Mutation_p.Y2091H|CSMD3_uc011lhx.2_Missense_Mutation_p.Y2027H	p.Y2131H	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			40	6550	-			2131			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6391T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714452	0.89112	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000002	T	0.74749	0.3757	H	0.99642	4.675	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.85822	0.1386	10	0.51188	T	0.08	.	15.8422	0.78857	1.0:0.0:0.0:0.0	.	2027;2131;2091	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2091;2131;1401;2027;2061	ENSP00000345799:Y2091H;ENSP00000297405:Y2131H;ENSP00000341558:Y1401H;ENSP00000412263:Y2027H;ENSP00000343124:Y2061H	ENSP00000297405:Y2131H	Y	-	1	0	CSMD3	113427553	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.097000	0.94193	2.323000	0.78572	0.528000	0.53228	TAT		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		41	62	0	0	0	1	0	41	62					G	113358377	A	G	113358377	3	3	316	1	0	0	0	0	1	0	0	0	3946	420	15	3	4856	3	CSMD3	8	113358377	Missense_Mutation	SNP	A	TCGA-ET-A39P-01A-21D-A19J-08		113358377	33005645	11	5520											
ITGA8	8516	broad.mit.edu	37	10	15688984	15688984	+	Silent	SNP	T	T	C			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr10:15688984T>C	ENST00000378076.3	-	12	1421	c.1068A>G	c.(1066-1068)gaA>gaG	p.E356E		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	356					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						TTTGCCCTACTTCTCTGGGGT	0.502																																						uc001ioc.1																			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.(1066-1068)gaA>gaG		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							124	111	116					10																	15688984		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688984T>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1068A>G	10.37:g.15688984T>C			Somatic				ITGA8_uc010qcb.1_Silent_p.E341E	p.E356E	NM_003638	NP_003629	WXS	Illumina GAIIx	Phase_I	P53708	ITA8_HUMAN			11	1068	-			356					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1068A>G	CCDS31155.1																																																																																				0.502	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		8	60	0	0	0	1	0	8	60					C	15688984	T	C	15688984	2	2	316	1	0	0	0	0	0	0	0	1	7882	1606	56	3		3	ITGA8	10	15688984	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08		15688984	119845763	12	5521											
OR10A7	121364	broad.mit.edu	37	12	55615054	55615054	+	Silent	SNP	T	T	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:55615054T>A	ENST00000326258.1	+	1	246	c.246T>A	c.(244-246)ctT>ctA	p.L82L		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	82						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)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAAAAATGCTTGTAGATCTAG	0.413																																						uc010spf.2																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(244-246)ctT>ctA		Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.							216	210	212					12																	55615054		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615054T>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.246T>A	12.37:g.55615054T>A			Somatic					p.L82L	NM_001005280	NP_001005280	WXS	Illumina GAIIx	Phase_I	Q8NGE5	O10A7_HUMAN			0	246	+			82					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.246T>A	CCDS31815.1																																																																																				0.413	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			90	123	0	0	0	1	0	90	123					A	55615054	T	A	55615054	2	1	316	1	0	0	0	0	0	0	0	1	10895	1799	63	5		5	OR10A7	12	55615054	Silent	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08		55615054	78236841	13	5522											
SLC35E3	55508	broad.mit.edu	37	12	69140181	69140182	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr12:69140181_69140182GC>TT	ENST00000398004.2	+	1	296_297	c.24_25GC>TT	c.(22-27)gtGCgg>gtTTgg	p.R9W		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	9						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGACCGAGTGCGGGGCCACTG	0.634																																						uc001suh.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(22-27)gtgcgg>gtTTgg		Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.																																				SO:0001583	missense	55508					integral to membrane		g.chr12:69140181_69140182GC>TT	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	Exception_encountered	12.37:g.69140181_69140182delinsTT	ENSP00000381089:p.Arg9Trp		Somatic					p.R9W	NM_018656	NP_061126	WXS	Illumina GAIIx	Phase_I	Q7Z769	S35E3_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)		0	246_247	+	Breast(13;2.31e-06)|Renal(347;0.0684)		9					A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	DNP	ENST00000398004.2	37	c.24_25GC>TT	CCDS41808.1																																																																																				0.634	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		13	12	0	0	0	1	0	13	12					TT	69140182	GC	TT	69140181	3	4	316	1	0	0	0	0	1	0	0	0	14586	1306	46	4	26	4	SLC35E3	12	69140181	Missense_Mutation	DNP	GC	TCGA-ET-A39P-01A-21D-A19J-08	13525127	69140181	64711714	14	5523											
DYNC1H1	1778	broad.mit.edu	37	14	102471238	102471238	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr14:102471238C>A	ENST00000360184.4	+	25	5353	c.5189C>A	c.(5188-5190)gCa>gAa	p.A1730E		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1730	Stem. {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						TTTGGTAAAGCAACTTCAATT	0.418																																						uc001yks.2																			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.(5188-5190)gCa>gAa		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							96	90	92					14																	102471238		2203	4300	6503	SO:0001583	missense	1778				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102471238C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5189C>A	14.37:g.102471238C>A	ENSP00000348965:p.Ala1730Glu		Somatic					p.A1730E	NM_001376	NP_001367	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			24	5353	+			1730			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5189C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881999	0.33255	.	.	ENSG00000197102	ENST00000360184	T	0.29655	1.56	5.85	5.85	0.93711	.	0.048570	0.85682	D	0.000000	T	0.18087	0.0434	N	0.08118	0	0.48185	D	0.999605	B	0.02656	0.0	B	0.04013	0.001	T	0.13308	-1.0514	10	0.07990	T	0.79	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	1730	Q14204	DYHC1_HUMAN	E	1730	ENSP00000348965:A1730E	ENSP00000348965:A1730E	A	+	2	0	DYNC1H1	101540991	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.106000	0.57804	2.761000	0.94854	0.655000	0.94253	GCA		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		27	35	0	0	0	1	0	27	35					A	102471238	C	A	102471238	3	1	316	1	0	0	0	0	1	0	0	0	4841	710	25	4	5287	4	DYNC1H1	14	102471238	Missense_Mutation	SNP	C	TCGA-ET-A39P-01A-21D-A19J-08		102471238	4878302	15	5524											
ZNF668	79759	broad.mit.edu	37	16	31072858	31072858	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chr16:31072858G>A	ENST00000538906.1	-	3	2175	c.1391C>T	c.(1390-1392)cCg>cTg	p.P464L	ZNF668_ENST00000539836.3_Missense_Mutation_p.P487L|ZNF668_ENST00000394983.2_Missense_Mutation_p.P464L|ZNF668_ENST00000417110.2_Missense_Mutation_p.G16R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P487L|ZNF668_ENST00000300849.4_Missense_Mutation_p.P464L|ZNF668_ENST00000535577.1_Missense_Mutation_p.P464L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	464					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACCTGACTCCGGGGGCAGCCC	0.697																																					Colon(181;1111 1980 5060 10512 25785)	uc021tgt.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1459-1461)cCg>cTg		Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.							59	64	62					16																	31072858		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072858G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1391C>T	16.37:g.31072858G>A	ENSP00000440149:p.Pro464Leu		Somatic				ZNF668_uc010cag.2_Missense_Mutation_p.P464L|ZNF668_uc010caf.3_Missense_Mutation_p.P464L|ZNF668_uc002eao.3_Missense_Mutation_p.P464L	p.P487L	NM_001172669	NP_078982	WXS	Illumina GAIIx	Phase_I	Q96K58	ZN668_HUMAN			3	1816	-			464					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1460C>T	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.057|9.057	0.993635|0.993635	0.19043|0.19043	.|.	.|.	ENSG00000232748|ENSG00000167394	ENST00000417110|ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	.|T;T;T;T;T	.|0.07688	.|3.17;3.18;3.18;3.18;3.18	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.352102	.|0.26963	.|N	.|0.021608	T|T	0.04452|0.04452	0.0122|0.0122	N|N	0.08118|0.08118	0|0	0.25494|0.25494	N|N	0.987613|0.987613	.|B	.|0.18610	.|0.029	.|B	.|0.06405	.|0.002	T|T	0.29243|0.29243	-1.0018|-1.0018	6|10	0.87932|0.46703	D|T	0|0.11	-9.9906|-9.9906	8.9193|8.9193	0.35601|0.35601	0.0986:0.0:0.9014:0.0|0.0986:0.0:0.9014:0.0	.|.	.|464	.|Q96K58	.|ZN668_HUMAN	R|L	16|487;464;464;464;464	.|ENSP00000442573:P487L;ENSP00000441349:P464L;ENSP00000440149:P464L;ENSP00000378434:P464L;ENSP00000300849:P464L	ENSP00000391989:G16R|ENSP00000300849:P464L	G|P	+|-	1|2	0|0	AC135050.1|ZNF668	30980359|30980359	0.702000|0.702000	0.27816|0.27816	0.497000|0.497000	0.27552|0.27552	0.971000|0.971000	0.66376|0.66376	3.598000|3.598000	0.54038|0.54038	2.523000|2.523000	0.85059|0.85059	0.561000|0.561000	0.74099|0.74099	GGG|CCG		0.697	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		31	65	0	0	0	1	0	31	65					A	31072858	G	A	31072858	3	1	316	1	0	0	0	0	1	0	0	0	18072	1116	39	1	472	1	ZNF668	16	31072858	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		31072858	59281895	16	5525											
TRO	7216	broad.mit.edu	37	X	54955736	54955736	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:54955736G>T	ENST00000173898.7	+	12	2691	c.2579G>T	c.(2578-2580)aGt>aTt	p.S860I	TRO_ENST00000375022.4_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S463I|TRO_ENST00000420798.2_Missense_Mutation_p.S391I|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	860	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTGGCTTTAGTGGTGTACTC	0.562																																						uc004dtq.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2578-2580)aGt>aTt		Homo sapiens trophinin (TRO), transcript variant 6, mRNA.							43	39	41					X																	54955736		2157	4236	6393	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955736G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2579G>T	X.37:g.54955736G>T	ENSP00000173898:p.Ser860Ile		Somatic				TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.S391I|TRO_uc004dtw.3_Missense_Mutation_p.S463I|TRO_uc004dtx.3_Missense_Mutation_p.S243I	p.S860I	NM_001039705	NP_001034794	WXS	Illumina GAIIx	Phase_I	Q12816	TROP_HUMAN			11	2686	+			860			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2579G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432499	0.25813	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.33216	1.73;1.42;1.73	2.84	1.97	0.26223	.	.	.	.	.	T	0.24624	0.0597	L	0.39898	1.24	0.21105	N	0.999785	P;P	0.45348	0.61;0.856	B;B	0.41271	0.159;0.352	T	0.10382	-1.0632	9	0.72032	D	0.01	.	7.4063	0.26993	0.144:0.0:0.856:0.0	.	463;860	B1AKE9;Q12816	.;TROP_HUMAN	I	860;391;463	ENSP00000173898:S860I;ENSP00000405126:S391I;ENSP00000364181:S463I	ENSP00000173898:S860I	S	+	2	0	TRO	54972461	0.047000	0.20315	0.024000	0.17045	0.231000	0.25187	1.662000	0.37418	0.596000	0.29794	0.556000	0.70494	AGT		0.562	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		15	24	0	0	0	1	0	15	24					T	54955736	G	T	54955736	3	4	316	1	0	0	0	0	1	0	0	0	16571	1029	36	4	2621	4	TRO	23	54955736	Missense_Mutation	SNP	G	TCGA-ET-A39P-01A-21D-A19J-08		54955736	100314824	17	5526											
FOXR2	139628	broad.mit.edu	37	X	55650232	55650232	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A39P-01A-21D-A19J-08	TCGA-ET-A39P-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34172376-3070-445a-af3c-29481e93ac41	0ebea3ce-cb3b-4026-98a1-486b6d1e2e06	g.chrX:55650232T>A	ENST00000339140.3	+	1	400	c.88T>A	c.(88-90)Tta>Ata	p.L30I		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	30					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGAATGAGTTATTTCTGCC	0.468																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(88-90)Tta>Ata		Homo sapiens forkhead box R2 (FOXR2), mRNA.							100	90	93					X																	55650232		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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.chrX:55650232T>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.88T>A	X.37:g.55650232T>A	ENSP00000427329:p.Leu30Ile		Somatic					p.L30I	NM_198451	NP_940853	WXS	Illumina GAIIx	Phase_I	Q6PJQ5	FOXR2_HUMAN			0	400	+			30						Missense_Mutation	SNP	ENST00000339140.3	37	c.88T>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	T	8.141	0.785188	0.16189	.	.	ENSG00000189299	ENST00000339140	D	0.94897	-3.55	4.2	0.314	0.15847	.	2.136140	0.02246	U	0.066213	D	0.86760	0.6010	N	0.17474	0.49	0.23585	N	0.997355	B	0.22276	0.067	B	0.17098	0.017	T	0.75542	-0.3281	10	0.23302	T	0.38	.	0.6309	0.00794	0.2123:0.1218:0.2155:0.4504	.	30	Q6PJQ5	FOXR2_HUMAN	I	30	ENSP00000427329:L30I	ENSP00000427329:L30I	L	+	1	2	FOXR2	55666957	0.998000	0.40836	0.003000	0.11579	0.171000	0.22731	0.560000	0.23500	0.113000	0.18004	0.486000	0.48141	TTA		0.468	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		27	56	0	0	0	1	0	27	56					A	55650232	T	A	55650232	3	1	316	1	0	0	0	0	1	0	0	0	6032	1722	60	5	90	5	FOXR2	23	55650232	Missense_Mutation	SNP	T	TCGA-ET-A39P-01A-21D-A19J-08	694496	55650232	99620328	18	5527											
AHDC1	27245	broad.mit.edu	37	1	27877329	27877331	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr1:27877329_27877331delGGT	ENST00000247087.5	-	5	1892_1894	c.1296_1298delACC	c.(1294-1299)ccaccg>ccg	p.432_433PP>P	AHDC1_ENST00000374011.2_In_Frame_Del_p.432_433PP>P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	432	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGAGGAGGCGGTGGTGGTGGGG	0.714																																						uc009vsy.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1294-1299)ccaccg>ccg		Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.																																				SO:0001651	inframe_deletion	27245						DNA binding	g.chr1:27877329_27877331delGGT	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1296_1298delACC	1.37:g.27877335_27877337delGGT	ENSP00000247087:p.Pro438del		Somatic				AHDC1_uc009vsz.1_In_Frame_Del_p.432_433PP>P|AHDC1_uc021ojw.1_In_Frame_Del_p.432_433PP>P	p.432_433PP>P	NM_001029882	NP_001025053	WXS	Illumina GAIIx	Phase_I	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	5	2265_2267	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	432			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	ENST00000247087.5	37	c.1296_1298delACC	CCDS30652.1																																																																																				0.714	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			2	4						2	4	---	---	---	---	-	27877331	GGT	-	27877329	7	5	317	1	0	1	0	1	0	0	0	0	412	1116	39	0	3517	0	AHDC1	1	27877329	In_Frame_Del	DEL	GGT	TCGA-ET-A39R-01A-11D-A19J-08		27877329	221373292	1	5528											
IRS1	3667	broad.mit.edu	37	2	227663266	227663266	+	Silent	SNP	C	C	A			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr2:227663266C>A	ENST00000305123.5	-	1	1209	c.189G>T	c.(187-189)tcG>tcT	p.S63S	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	63	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAAGGGGGATCGAGCGTTTGG	0.637																																						uc002voh.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(187-189)tcG>tcT		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							85	104	97					2																	227663266		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663266C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.189G>T	2.37:g.227663266C>A			Somatic				IRS1_uc021vxn.1_Silent_p.S63S	p.S63S	NM_005544	NP_005535	WXS	Illumina GAIIx	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	241	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	63			Mediates interaction with PHIP (By similarity).|PH.			Silent	SNP	ENST00000305123.5	37	c.189G>T	CCDS2463.1																																																																																				0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		21	148	0	0	0	1	0	21	148					A	227663266	C	A	227663266	2	1	317	1	0	0	0	0	0	0	0	1	7840	871	31	4		4	IRS1	2	227663266	Silent	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		227663266	15536107	2	5529											
ZNF777	27153	broad.mit.edu	37	7	149129472	149129472	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr7:149129472C>G	ENST00000247930.4	-	6	2214	c.1891G>C	c.(1891-1893)Ggt>Cgt	p.G631R		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	631	Poly-Gly.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTAGGGCCACCGCCGCCGCTA	0.667																																						uc003wfv.3																			0		p.G630C(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1891-1893)Ggt>Cgt		Homo sapiens zinc finger protein 777 (ZNF777), mRNA.							73	90	84					7																	149129472		2149	4252	6401	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129472C>G	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1891G>C	7.37:g.149129472C>G	ENSP00000247930:p.Gly631Arg		Somatic					p.G631R	NM_015694	NP_056509	WXS	Illumina GAIIx	Phase_I	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	2054	-	Melanoma(164;0.165)		631			Poly-Gly.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1891G>C	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	8.571	0.880102	0.17467	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05447	3.44	4.7	2.87	0.33458	.	0.452476	0.18702	N	0.133544	T	0.07143	0.0181	N	0.04880	-0.145	0.23381	N	0.997792	D	0.63046	0.992	P	0.57620	0.824	T	0.31110	-0.9955	10	0.59425	D	0.04	-15.6726	10.1886	0.43013	0.0:0.8164:0.0:0.1836	.	631	Q9ULD5-2	.	R	631;374	ENSP00000247930:G631R	ENSP00000247930:G631R	G	-	1	0	ZNF777	148760405	0.061000	0.20836	0.855000	0.33649	0.025000	0.11179	1.199000	0.32235	0.090000	0.17273	-1.842000	0.00583	GGT		0.667	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		32	106	0	0	0	1	0	32	106					G	149129472	C	G	149129472	3	3	317	1	0	0	0	0	1	0	0	0	18147	652	23	4	608	4	ZNF777	7	149129472	Missense_Mutation	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		149129472	10009191	3	5530											
OC90	729330	broad.mit.edu	37	8	133053841	133053841	+	Missense_Mutation	SNP	C	C	T	rs372434452		TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr8:133053841C>T	ENST00000443356.2	-	5	361	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	OC90_ENST00000603859.1_Missense_Mutation_p.R92Q|OC90_ENST00000262283.5_Missense_Mutation_p.R288Q|OC90_ENST00000254627.3_Missense_Mutation_p.R92Q			Q02509	OC90_HUMAN	otoconin 90	92	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527																																						uc003ytg.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(226-228)cGa>cAa		Homo sapiens otoconin 90 (OC90), mRNA.		C	GLN/ARG	1,3995		0,1,1997	46	47	47		275	4.9	1.0	8		47	0,8330		0,0,4165	no	missense	OC90	NM_001080399.2	43	0,1,6162	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	92/478	133053841	1,12325	1998	4165	6163	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053841C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.275G>A	8.37:g.133053841C>T	ENSP00000390050:p.Arg92Gln		Somatic				OC90_uc011lix.1_Missense_Mutation_p.R92Q	p.R76Q	NM_001080399	NP_001073868	WXS	Illumina GAIIx	Phase_I	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		2	227	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		92			Phospholipase A2-like 1.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.227G>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.367936	0.82463	2.5E-4	0.0	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26373	1.74;1.74;1.74	5.88	4.9	0.64082	Phospholipase A2 (3);	0.204155	0.39909	N	0.001230	T	0.44644	0.1303	M	0.68952	2.095	0.30403	N	0.779799	D;D	0.89917	1.0;1.0	D;D	0.72982	0.965;0.979	T	0.40098	-0.9581	10	0.38643	T	0.18	-24.1919	10.1278	0.42661	0.0:0.8788:0.0:0.1212	.	92;92	Q02509-2;Q02509	.;OC90_HUMAN	Q	92;92;288	ENSP00000254627:R92Q;ENSP00000390050:R92Q;ENSP00000262283:R288Q	ENSP00000254627:R92Q	R	-	2	0	RP11-240B13.2;OC90	133123023	0.991000	0.36638	0.998000	0.56505	0.991000	0.79684	2.905000	0.48727	2.790000	0.95986	0.591000	0.81541	CGA		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		7	13	0	0	0	1	0	7	13					T	133053841	C	T	133053841	3	4	317	1	0	0	0	0	1	0	0	0	10814	884	31	1	1198	1	OC90	8	133053841	Missense_Mutation	SNP	C	TCGA-ET-A39R-01A-11D-A19J-08		133053841	13310181	4	5531											
COL5A3	50509	broad.mit.edu	37	19	10116500	10116500	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chr19:10116500G>A	ENST00000264828.3	-	3	494	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	137	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCTGCTGGGGGAGGGGGCGG	0.657																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(409-411)Ccc>Tcc		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							18	20	20					19																	10116500		2182	4278	6460	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116500G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.409C>T	19.37:g.10116500G>A	ENSP00000264828:p.Pro137Ser		Somatic					p.P137S	NM_015719	NP_056534	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		2	495	-			137			TSP N-terminal.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.409C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146488	0.37923	.	.	ENSG00000080573	ENST00000264828	T	0.02050	4.48	4.02	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.151679	0.45867	D	0.000332	T	0.03136	0.0092	N	0.15975	0.35	0.30321	N	0.787564	D	0.65815	0.995	P	0.57911	0.829	T	0.47058	-0.9146	10	0.13470	T	0.59	.	11.5368	0.50641	0.0:0.0:1.0:0.0	.	137	P25940	CO5A3_HUMAN	S	137	ENSP00000264828:P137S	ENSP00000264828:P137S	P	-	1	0	COL5A3	9977500	0.999000	0.42202	0.951000	0.38953	0.929000	0.56500	3.466000	0.53071	2.096000	0.63516	0.462000	0.41574	CCC		0.657	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		7	9	0	0	0	1	0	7	9					A	10116500	G	A	10116500	3	1	317	1	0	0	0	0	1	0	0	0	3698	1232	43	2	5088	2	COL5A3	19	10116500	Missense_Mutation	SNP	G	TCGA-ET-A39R-01A-11D-A19J-08		10116500	49012483	5	5532											
HAUS7	55559	broad.mit.edu	37	X	152734614	152734614	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A39R-01A-11D-A19J-08	TCGA-ET-A39R-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc29bed0-8ced-477b-8b69-3db24426a0b9	ec696761-1a5e-4925-b59b-e3e9d42edc7d	g.chrX:152734614T>C	ENST00000370211.4	-	2	287	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	HAUS7_ENST00000370210.1_Missense_Mutation_p.M72V|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.M82V|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000334497.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	82					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CGGGTACACATCCACTCTAGG	0.552																																						uc004fhn.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						c.(244-246)Atg>Gtg		Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.							210	178	189					X																	152734614		2203	4300	6503	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152734614T>C	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"HAUS augmin-like complex subunits"	32979	protein-coding gene	gene with protein product	"UCH37 interacting protein 1", "26S proteasome-associated UCH interacting protein 1"	300540	"UCHL5 interacting protein"	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.244A>G	X.37:g.152734614T>C	ENSP00000359230:p.Met82Val		Somatic				HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.M82V|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	p.M82V	NM_017518	NP_059988	WXS	Illumina GAIIx	Phase_I	Q99871	HAUS7_HUMAN			1	802	-			82					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.244A>G	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846738	0.32606	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212;ENST00000453918;ENST00000370210	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.76	0.461	0.16689	.	0.279979	0.37178	N	0.002205	T	0.18509	0.0444	L	0.54323	1.7	0.80722	D	1	B;B	0.30146	0.102;0.27	B;B	0.24701	0.049;0.055	T	0.05037	-1.0910	10	0.62326	D	0.03	-9.8769	3.9402	0.09323	0.4121:0.0:0.1829:0.405	.	82;82	Q99871;Q99871-2	HAUS7_HUMAN;.	V	72;82;82;141;72	ENSP00000359230:M72V;ENSP00000359239:M82V;ENSP00000359231:M82V;ENSP00000359229:M72V	ENSP00000359229:M72V	M	-	1	0	HAUS7	152387808	0.989000	0.36119	0.934000	0.37439	0.926000	0.56050	0.025000	0.13577	0.151000	0.19162	0.486000	0.48141	ATG		0.552	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		41	77	0	0	0	1	0	41	77					C	152734614	T	C	152734614	3	2	317	1	0	0	0	0	1	0	0	0	6971	1435	50	3	898	3	HAUS7	23	152734614	Missense_Mutation	SNP	T	TCGA-ET-A39R-01A-11D-A19J-08		152734614	2535946	6	5533											
MARS2	92935	broad.mit.edu	37	2	198571775	198571775	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr2:198571775G>T	ENST00000282276.6	+	1	1689	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	549					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGGAGTCTTGGAGAGCTCTAT	0.532																																						uc002uuq.3																			0		p.G549*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1645-1647)gGa>gTa		Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Methionine(DB00134)						115	116	115					2																	198571775		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571775G>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1646G>T	2.37:g.198571775G>T	ENSP00000282276:p.Gly549Val		Somatic				BC021693_uc002uup.3_Intron	p.G549V	NM_138395	NP_612404	WXS	Illumina GAIIx	Phase_I	Q96GW9	SYMM_HUMAN			0	1748	+			549					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.1646G>T	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	4.412	0.076243	0.08485	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.43294	0.95	4.83	0.711	0.18162	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	1.046820	0.07466	N	0.901396	T	0.25568	0.0622	N	0.17082	0.46	0.19575	N	0.999969	B	0.06786	0.001	B	0.06405	0.002	T	0.23440	-1.0188	10	0.34782	T	0.22	0.0597	6.4666	0.21985	0.1699:0.4433:0.3869:0.0	.	549	Q96GW9	SYMM_HUMAN	V	549;476	ENSP00000282276:G549V	ENSP00000282276:G549V	G	+	2	0	MARS2	198280020	0.000000	0.05858	0.986000	0.45419	0.581000	0.36288	-0.139000	0.10358	0.235000	0.21160	-0.172000	0.13284	GGA		0.532	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		48	148	0	0	0	1	0	48	148					T	198571775	G	T	198571775	3	4	318	1	0	0	0	0	1	0	0	0	9317	1174	41	4	1648	4	MARS2	2	198571775	Missense_Mutation	SNP	G	TCGA-ET-A39S-01A-11D-A19J-08		198571775	44627598	1	5534											
DNAH1	25981	broad.mit.edu	37	3	52356519	52356519	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr3:52356519A>G	ENST00000420323.2	+	2	322	c.61A>G	c.(61-63)Agc>Ggc	p.S21G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	21	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)		CCCAGAGTGCAGCAGTGCTCC	0.582																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(61-63)Agc>Ggc		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							39	43	42					3																	52356519		1905	4119	6024	SO:0001583	missense	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.chr3:52356519A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.61A>G	3.37:g.52356519A>G	ENSP00000401514:p.Ser21Gly		Somatic				DNAH1_uc003ddt.1_Missense_Mutation_p.S21G	p.S21G	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	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)	1	322	+			21			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.61A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351844	0.24512	.	.	ENSG00000114841	ENST00000420323	T	0.28069	1.63	3.06	3.06	0.35304	.	4.836440	0.00357	N	0.000021	T	0.28001	0.0690	L	0.36672	1.1	0.09310	N	0.999998	B;B	0.25272	0.018;0.122	B;B	0.27608	0.011;0.081	T	0.18745	-1.0327	10	0.21540	T	0.41	.	7.9425	0.29967	1.0:0.0:0.0:0.0	.	21;21	C9JXH6;Q9P2D7-3	.;.	G	21	ENSP00000401514:S21G	ENSP00000401514:S21G	S	+	1	0	DNAH1	52331559	0.001000	0.12720	0.309000	0.25155	0.406000	0.30931	0.006000	0.13152	1.659000	0.50751	0.459000	0.35465	AGC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		10	46	0	0	0	1	0	10	46					G	52356519	A	G	52356519	3	3	318	1	0	0	0	0	1	0	0	0	4597	188	7	3	63	3	DNAH1	3	52356519	Missense_Mutation	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		52356519	145665911	2	5535											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	56	0	0	0	1	0	27	56					T	140453136	A	T	140453136	3	4	318	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39S-01A-11D-A19J-08		140453136	18685527	3	5536											
GPR124	25960	broad.mit.edu	37	8	37690634	37690634	+	Missense_Mutation	SNP	C	C	T	rs200841231		TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr8:37690634C>T	ENST00000412232.2	+	9	1217	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	GPR124_ENST00000315215.7_Missense_Mutation_p.R402W	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	402					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)			AGCCTCCCGCCGGTGTGACCG	0.667																																						uc003xkj.3																			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.(1204-1206)Cgg>Tgg		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.		C	TRP/ARG	2,4402	4.2+/-10.8	0,2,2200	40	45	43		1204	3.2	1.0	8		43	6,8594	5.0+/-18.6	0,6,4294	yes	missense	GPR124	NM_032777.9	101	0,8,6494	TT,TC,CC		0.0698,0.0454,0.0615	probably-damaging	402/1339	37690634	8,12996	2202	4300	6502	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.chr8:37690634C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1204C>T	8.37:g.37690634C>T	ENSP00000406367:p.Arg402Trp		Somatic				GPR124_uc010lvy.3_Missense_Mutation_p.R402W	p.R402W	NM_032777	NP_116166	WXS	Illumina GAIIx	Phase_I	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		8	1590	+			402					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1204C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555181	0.65425	4.54E-4	6.98E-4	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.51574	0.7;0.7	5.11	3.23	0.37069	GPCR, family 2, extracellular hormone receptor domain (2);	0.322853	0.28847	N	0.013957	T	0.57917	0.2086	L	0.48642	1.525	0.23401	N	0.997757	D;D	0.89917	1.0;0.997	D;P	0.65987	0.94;0.87	T	0.52041	-0.8628	10	0.48119	T	0.1	-28.3897	12.7427	0.57261	0.4465:0.5535:0.0:0.0	.	402;402	Q96PE1-2;Q96PE1	.;GP124_HUMAN	W	395;402;402	ENSP00000323508:R402W;ENSP00000406367:R402W	ENSP00000323508:R402W	R	+	1	2	GPR124	37809792	0.274000	0.24191	0.978000	0.43139	0.973000	0.67179	0.629000	0.24538	0.488000	0.27723	-0.181000	0.13052	CGG		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			4	57	0	0	0	1	0	4	57					T	37690634	C	T	37690634	3	4	318	1	0	0	0	0	1	0	0	0	6638	643	23	1	1217	1	GPR124	8	37690634	Missense_Mutation	SNP	C	TCGA-ET-A39S-01A-11D-A19J-08		37690634	108673388	4	5537											
SHPK	23729	broad.mit.edu	37	17	3518731	3518731	+	Silent	SNP	T	T	C			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr17:3518731T>C	ENST00000225519.3	-	6	1026	c.924A>G	c.(922-924)ccA>ccG	p.P308P		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	308					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)		TGTTGAAGTATGGGAAGTAGG	0.592																																						uc002fvz.1																			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.(922-924)ccA>ccG		Homo sapiens sedoheptulokinase (SHPK), mRNA.							105	85	92					17																	3518731		2203	4300	6503	SO:0001819	synonymous_variant	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3518731T>C	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.924A>G	17.37:g.3518731T>C			Somatic					p.P308P	NM_013276	NP_037408	WXS	Illumina GAIIx	Phase_I	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	5	1027	-			308					B2R640|Q8WUH3	Silent	SNP	ENST00000225519.3	37	c.924A>G	CCDS11030.1																																																																																				0.592	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			20	47	0	0	0	1	0	20	47					C	3518731	T	C	3518731	2	2	318	1	0	0	0	0	0	0	0	1	14290	1451	51	3		3	SHPK	17	3518731	Silent	SNP	T	TCGA-ET-A39S-01A-11D-A19J-08		3518731	77676479	5	5538											
SALL3	27164	broad.mit.edu	37	18	76753025	76753025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A39S-01A-11D-A19J-08	TCGA-ET-A39S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4715aaf8-bfde-4f8c-9099-6b87ed6f3fba	1330fdd2-5fa2-4f99-b8ed-a9b278650139	g.chr18:76753025delC	ENST00000537592.2	+	2	1034	c.1034delC	c.(1033-1035)gccfs	p.A345fs	SALL3_ENST00000575389.2_Frame_Shift_Del_p.A345fs|SALL3_ENST00000536229.3_Frame_Shift_Del_p.A212fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	345					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)		ACGCCGCCTGCCCTGGCCCCG	0.781																																						uc002lmt.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.(1033-1035)gccfs		Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.							6	8	7					18																	76753025		2080	4053	6133	SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753025delC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1034delC	18.37:g.76753025delC	ENSP00000441823:p.Ala345fs		Somatic				SALL3_uc010dra.3_5'Flank	p.A345fs	NM_171999	NP_741996	WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1034	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	345					Q9UGH1	Frame_Shift_Del	DEL	ENST00000537592.2	37	c.1034delC	CCDS12013.1																																																																																				0.781	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		2	4						2	4	---	---	---	---	-	76753025	C	-	76753025	7	5	318	1	0	1	0	1	0	0	0	0	13812	739	26	0	1040	0	SALL3	18	76753025	Frame_Shift_Del	DEL	C	TCGA-ET-A39S-01A-11D-A19J-08		76753025	1324223	6	5539											
CD5L	922	broad.mit.edu	37	1	157804272	157804272	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr1:157804272G>T	ENST00000368174.4	-	4	739	c.643C>A	c.(643-645)Ctt>Att	p.L215I	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	215	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAATCCTGAAGGGTTGCTTCT	0.532																																						uc001frk.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(643-645)Ctt>Att		Homo sapiens CD5 molecule-like (CD5L), mRNA.							62	53	56					1																	157804272		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804272G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.643C>A	1.37:g.157804272G>T	ENSP00000357156:p.Leu215Ile		Somatic					p.L215I	NM_005894	NP_005885	WXS	Illumina GAIIx	Phase_I	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	786	-	all_hematologic(112;0.0378)		215			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.643C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627757	0.46944	.	.	ENSG00000073754	ENST00000368174	T	0.58060	0.36	4.97	1.95	0.26073	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.179488	0.27080	N	0.021039	T	0.40247	0.1109	L	0.58925	1.835	0.09310	N	1	D	0.59357	0.985	P	0.52823	0.71	T	0.27088	-1.0084	10	0.51188	T	0.08	.	9.0118	0.36146	0.0:0.1432:0.5607:0.2961	.	215	O43866	CD5L_HUMAN	I	215	ENSP00000357156:L215I	ENSP00000357156:L215I	L	-	1	0	CD5L	156070896	0.987000	0.35691	0.002000	0.10522	0.245000	0.25701	1.852000	0.39348	0.236000	0.21180	0.655000	0.94253	CTT		0.532	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		3	42	0	0	0	1	0	3	42					T	157804272	G	T	157804272	3	4	319	1	0	0	0	0	1	0	0	0	3027	1000	35	4	412	4	CD5L	1	157804272	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		157804272	91446349	1	5540											
ALK	238	broad.mit.edu	37	2	29474117	29474117	+	Silent	SNP	G	G	A			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr2:29474117G>A	ENST00000389048.3	-	12	2964	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	686					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCCCACATGTGGTGAACAGCC	0.652			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2056-2058)acC>acT		Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	Adenosine triphosphate(DB00171)						30	33	32					2																	29474117		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474117G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2058C>T	2.37:g.29474117G>A			Somatic					p.T686T	NM_004304	NP_004295	WXS	Illumina GAIIx	Phase_I	Q9UM73	ALK_HUMAN			11	3010	-	Acute lymphoblastic leukemia(172;0.155)		686					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.2058C>T	CCDS33172.1																																																																																				0.652	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	22	0	0	0	1	0	3	22					A	29474117	G	A	29474117	2	1	319	1	0	0	0	0	0	0	0	1	525	1335	47	2		2	ALK	2	29474117	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		29474117	213725256	2	5541											
TBCCD1	55171	broad.mit.edu	37	3	186268971	186268971	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr3:186268971G>C	ENST00000424280.1	-	7	2121	c.1642C>G	c.(1642-1644)Cct>Gct	p.P548A	TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000338733.5_Missense_Mutation_p.P548A|TBCCD1_ENST00000446782.1_Missense_Mutation_p.P452A	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	548					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CCTGCTGCAGGGGGTACAAGG	0.443																																						uc003fqg.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(1642-1644)Cct>Gct		Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.							121	115	117					3																	186268971		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186268971G>C	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1642C>G	3.37:g.186268971G>C	ENSP00000411253:p.Pro548Ala		Somatic				TBCCD1_uc011bry.2_Missense_Mutation_p.P548A|TBCCD1_uc003fqh.3_Missense_Mutation_p.P452A	p.P548A	NM_018138	NP_060608	WXS	Illumina GAIIx	Phase_I	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	6	1771	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		548					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.1642C>G	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193680	0.38707	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.83914	-1.78;-1.78;-1.78	5.39	4.51	0.55191	.	0.063541	0.64402	D	0.000005	T	0.78597	0.4308	L	0.50333	1.59	0.37858	D	0.929633	B;B	0.21905	0.026;0.062	B;B	0.22601	0.04;0.019	T	0.77319	-0.2632	10	0.54805	T	0.06	-13.087	11.7007	0.51569	0.0:0.0:0.824:0.1759	.	452;548	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	A	548;548;452	ENSP00000411253:P548A;ENSP00000341652:P548A;ENSP00000397091:P452A	ENSP00000341652:P548A	P	-	1	0	TBCCD1	187751665	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	3.839000	0.55835	1.246000	0.43901	0.650000	0.86243	CCT		0.443	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		33	44	0	0	0	1	0	33	44					C	186268971	G	C	186268971	3	2	319	1	0	0	0	0	1	0	0	0	15629	1232	43	4	35	4	TBCCD1	3	186268971	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		186268971	11753459	3	5542											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	35	0	0	0	1	0	34	35					T	140453136	A	T	140453136	3	4	319	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A39T-01A-11D-A19J-08		140453136	18685527	4	5543											
RP1	6101	broad.mit.edu	37	8	55538950	55538950	+	Silent	SNP	G	G	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr8:55538950G>T	ENST00000220676.1	+	4	2656	c.2508G>T	c.(2506-2508)ccG>ccT	p.P836P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	836					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTATGCACCGCAATCTCAAG	0.328																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2506-2508)ccG>ccT		Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.							42	46	45					8																	55538950		2200	4297	6497	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538950G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2508G>T	8.37:g.55538950G>T			Somatic				RP1_uc011ldy.1_Intron	p.P836P	NM_006269	NP_006260	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	2656	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	836						Silent	SNP	ENST00000220676.1	37	c.2508G>T	CCDS6160.1																																																																																				0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		20	35	0	0	0	1	0	20	35					T	55538950	G	T	55538950	2	4	319	1	0	0	0	0	0	0	0	1	13532	1074	38	4		4	RP1	8	55538950	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		55538950	90825072	5	5544											
ANO9	338440	broad.mit.edu	37	11	428731	428731	+	Silent	SNP	G	G	A			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:428731G>A	ENST00000332826.6	-	12	1095	c.1011C>T	c.(1009-1011)acC>acT	p.T337T		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	337					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGAGCAGGGTCAGGACGA	0.657																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1009-1011)acC>acT		Homo sapiens anoctamin 9 (ANO9), mRNA.							207	154	172					11																	428731		2198	4296	6494	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:428731G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1011C>T	11.37:g.428731G>A			Somatic				ANO9_uc001lph.2_Silent_p.T30T|ANO9_uc010qvv.1_Silent_p.T193T	p.T337T	NM_001012302	NP_001012302	WXS	Illumina GAIIx	Phase_I	A1A5B4	ANO9_HUMAN			11	1096	-			337					B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.1011C>T	CCDS31326.1																																																																																				0.657	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		3	34	0	0	0	1	0	3	34					A	428731	G	A	428731	2	1	319	1	0	0	0	0	0	0	0	1	704	1219	43	2		2	ANO9	11	428731	Silent	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		428731	134577785	6	5545											
MRGPRX4	117196	broad.mit.edu	37	11	18195430	18195430	+	Missense_Mutation	SNP	G	G	A	rs200217617		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr11:18195430G>A	ENST00000314254.3	+	1	1047	c.627G>A	c.(625-627)atG>atA	p.M209I	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCGGAAGATGCCGCTGACCA	0.562																																						uc001mnv.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(625-627)atG>atA		Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.							106	99	101					11																	18195430		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195430G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.627G>A	11.37:g.18195430G>A	ENSP00000314042:p.Met209Ile		Somatic					p.M209I	NM_054032	NP_473373	WXS	Illumina GAIIx	Phase_I	Q96LA9	MRGX4_HUMAN			0	1047	+			209					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.627G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	1.037	-0.680012	0.03353	.	.	ENSG00000179817	ENST00000314254	T	0.36878	1.23	2.85	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	1.908680	0.02837	N	0.127499	T	0.21062	0.0507	N	0.10645	0.015	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.11324	-1.0592	10	0.06757	T	0.87	.	11.4502	0.50147	0.0:0.0:1.0:0.0	.	209	Q96LA9	MRGX4_HUMAN	I	209	ENSP00000314042:M209I	ENSP00000314042:M209I	M	+	3	0	MRGPRX4	18152006	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.828000	0.04419	1.616000	0.50265	0.430000	0.28490	ATG		0.562	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		7	67	0	0	0	1	0	7	67					A	18195430	G	A	18195430	3	1	319	1	0	0	0	0	1	0	0	0	9769	1319	46	2	629	2	MRGPRX4	11	18195430	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	17766699	18195430	116811086	7	5546											
CAND1	55832	broad.mit.edu	37	12	67696298	67696298	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr12:67696298T>G	ENST00000545606.1	+	8	1633	c.1196T>G	c.(1195-1197)cTt>cGt	p.L399R		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	399					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)		CACGCATACCTTTCTCTTTTG	0.428																																						uc001stn.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1195-1197)cTt>cGt		Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.							183	154	164					12																	67696298		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.chr12:67696298T>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1196T>G	12.37:g.67696298T>G	ENSP00000442318:p.Leu399Arg		Somatic				CAND1_uc001sto.2_Missense_Mutation_p.L77R	p.L399R	NM_018448	NP_060918	WXS	Illumina GAIIx	Phase_I	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)	7	1633	+			399					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1196T>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675221	0.67928	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	D;D	0.89050	-2.46;-2.46	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	L	0.42245	1.32	0.80722	D	1	D;P	0.69078	0.997;0.902	D;B	0.78314	0.991;0.367	D	0.91156	0.4957	9	.	.	.	-13.0718	16.1864	0.81955	0.0:0.0:0.0:1.0	.	399;399	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	R	399;399;241;107	ENSP00000442318:L399R;ENSP00000444089:L107R	.	L	+	2	0	CAND1	65982565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.224000	0.72265	2.281000	0.76405	0.528000	0.53228	CTT		0.428	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		6	137	0	0	0	1	0	6	137					G	67696298	T	G	67696298	3	3	319	1	0	0	0	0	1	0	0	0	2615	1609	56	5	1226	5	CAND1	12	67696298	Missense_Mutation	SNP	T	TCGA-ET-A39T-01A-11D-A19J-08		67696298	66155597	8	5547											
C15orf55	256646	broad.mit.edu	37	15	34649616	34649616	+	Missense_Mutation	SNP	G	G	A	rs138691157	byFrequency	TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr15:34649616G>A	ENST00000333756.4	+	7	3478	c.3323G>A	c.(3322-3324)cGa>cAa	p.R1108Q	NUTM1_ENST00000438749.3_Missense_Mutation_p.R1126Q|NUTM1_ENST00000537011.1_Missense_Mutation_p.R1136Q	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1108						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGAGTAGTTCGACCCTCACAG	0.587																																						uc010ucc.2										T					"BRD3, BRD4"		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				large_intestine(2)|ovary(3)|skin(2)	7						c.(3406-3408)cGa>cAa		Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	60	63	62		3323	-3.2	0.0	15	dbSNP_134	62	12,8584	9.1+/-34.3	0,12,4286	yes	missense	C15orf55	NM_175741.1	43	0,13,6486	AA,AG,GG		0.1396,0.0227,0.1	benign	1108/1133	34649616	13,12985	2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34649616G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3323G>A	15.37:g.34649616G>A	ENSP00000329448:p.Arg1108Gln		Somatic				C15orf55_uc010ucd.2_Missense_Mutation_p.R1126Q|C15orf55_uc001zif.3_Missense_Mutation_p.R1108Q	p.R1136Q	NM_175741	NP_786883	WXS	Illumina GAIIx	Phase_I	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3789	+		all_lung(180;2.78e-08)	1108					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.3407G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233259	0.22626	2.27E-4	0.001396	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.58358	0.34;0.34;0.34	5.93	-3.15	0.05233	.	1.269900	0.05643	N	0.583876	T	0.34308	0.0893	L	0.28192	0.835	0.09310	N	1	B;B;B	0.22480	0.007;0.028;0.07	B;B;B	0.13407	0.004;0.009;0.003	T	0.21621	-1.0240	10	0.34782	T	0.22	.	5.5732	0.17208	0.4475:0.2524:0.3001:0.0	.	1126;1136;1108	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	Q	1136;1126;1108	ENSP00000444896:R1136Q;ENSP00000407031:R1126Q;ENSP00000329448:R1108Q	ENSP00000329448:R1108Q	R	+	2	0	C15orf55	32436908	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.015000	0.12634	-0.215000	0.10063	-0.137000	0.14449	CGA		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		5	93	0	0	0	1	0	5	93					A	34649616	G	A	34649616	3	1	319	1	0	0	0	0	1	0	0	0	1803	1058	37	1	3349	1	C15orf55	15	34649616	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08		34649616	67881776	9	5548											
RAB27A	5873	broad.mit.edu	37	15	55497812	55497812	+	Missense_Mutation	SNP	G	G	A	rs144946000		TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr15:55497812G>A	ENST00000396307.2	-	6	810	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RAB27A_ENST00000569493.1_Missense_Mutation_p.R187W|RAB27A_ENST00000336787.1_Missense_Mutation_p.R187W|RAB27A_ENST00000564609.1_Missense_Mutation_p.R187W	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	187					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCACACACCGTTCCATTCGC	0.473													G|||	1	0.000199681	0	0.0014	5008	,	,		19073	0		0	False		,,,				2504	0					uc002acr.3																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(559-561)Cgg>Tgg		Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 3, mRNA.		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4385	2.1+/-5.4	0,1,2192	357	286	310		559,559,559,559	2.4	1.0	15	dbSNP_134	310	2,8582	2.2+/-6.3	0,2,4290	yes	missense,missense,missense,missense	RAB27A	NM_004580.4,NM_183234.2,NM_183235.2,NM_183236.2	101,101,101,101	0,3,6482	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	187/222,187/222,187/222,187/222	55497812	3,12967	2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497812G>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.559C>T	15.37:g.55497812G>A	ENSP00000379601:p.Arg187Trp		Somatic				RAB27A_uc002aco.3_Missense_Mutation_p.R187W|RAB27A_uc002acp.3_Missense_Mutation_p.R187W|RAB27A_uc002acq.3_Missense_Mutation_p.R187W	p.R187W	NM_183235	NP_899059	WXS	Illumina GAIIx	Phase_I	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	801	-			187					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.559C>T	CCDS10153.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.4	4.138707	0.77775	2.28E-4	2.33E-4	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.69685	-0.42;-0.42	5.49	2.36	0.29203	.	0.055502	0.64402	D	0.000001	T	0.47875	0.1469	N	0.08118	0	0.58432	D	0.999999	D	0.67145	0.996	B	0.43728	0.429	T	0.57568	-0.7789	10	0.87932	D	0	-2.787	13.729	0.62776	0.0:0.0:0.5984:0.4016	.	187	P51159	RB27A_HUMAN	W	187;179;187	ENSP00000379601:R187W;ENSP00000337761:R187W	ENSP00000337761:R187W	R	-	1	2	RAB27A	53285104	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	3.696000	0.54757	0.632000	0.30432	0.655000	0.94253	CGG		0.473	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		12	118	0	0	0	1	0	12	118					A	55497812	G	A	55497812	3	1	319	1	0	0	0	0	1	0	0	0	12914	1144	40	1	110	1	RAB27A	15	55497812	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	20848196	55497812	47033580	10	5549											
SPNS1	83985	broad.mit.edu	37	16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr16:28990543C>T	ENST00000311008.11	+	4	889	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SPNS1_ENST00000561868.1_3'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V|SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V|RP11-264B17.4_ENST00000567209.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	171					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657																																						uc010vdi.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(511-513)gCg>gTg		Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.							60	62	62					16																	28990543		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28990543C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.512C>T	16.37:g.28990543C>T	ENSP00000309945:p.Ala171Val		Somatic				NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.A171V|SPNS1_uc002drx.2_Missense_Mutation_p.A98V|SPNS1_uc002dsa.2_Missense_Mutation_p.A171V|SPNS1_uc002drz.2_Missense_Mutation_p.A171V|SPNS1_uc010byp.2_Missense_Mutation_p.A149V	p.A171V	NM_001142448	NP_001135922	WXS	Illumina GAIIx	Phase_I	Q9H2V7	SPNS1_HUMAN			4	652	+			171					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.512C>T	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680748	0.68042	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.78801	2.425	0.80722	D	1	P;D;P;D;D	0.76494	0.942;0.989;0.867;0.999;0.998	P;P;P;D;D	0.66979	0.711;0.784;0.821;0.939;0.948	T	0.78848	-0.2042	10	0.87932	D	0	.	14.3725	0.66849	0.0:1.0:0.0:0.0	.	98;149;171;171;171	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2;Q9H2V7-5	.;.;SPNS1_HUMAN;.;.	V	171;171;149;98	ENSP00000309945:A171V;ENSP00000335494:A171V;ENSP00000306050:A149V;ENSP00000318228:A98V	ENSP00000309945:A171V	A	+	2	0	SPNS1	28898044	1.000000	0.71417	0.970000	0.41538	0.024000	0.10985	7.271000	0.78506	2.261000	0.74972	0.561000	0.74099	GCG		0.657	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		33	63	0	0	0	1	0	33	63					T	28990543	C	T	28990543	3	4	319	1	0	0	0	0	1	0	0	0	15073	768	27	1	526	1	SPNS1	16	28990543	Missense_Mutation	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		28990543	61364210	11	5550											
SNRNP70	6625	broad.mit.edu	37	19	49611420	49611420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr19:49611420delA	ENST00000598441.1	+	10	1258	c.1034delA	c.(1033-1035)gaafs	p.E345fs	SNRNP70_ENST00000221448.5_Frame_Shift_Del_p.E336fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	345	Arg/Asp/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGTCCAGAGGAAAAgggccgg	0.746																																						uc002pmk.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(1033-1035)gaafs		Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.							3	5	4					19																	49611420		1836	3674	5510	SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding	g.chr19:49611420delA		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.1034delA	19.37:g.49611420delA	ENSP00000472998:p.Glu345fs		Somatic				SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_Frame_Shift_Del_p.K132fs	p.E345fs	NM_003089	NP_003080	WXS	Illumina GAIIx	Phase_I	P08621	RU17_HUMAN			9	1473	+			345			Arg/Asp/Glu-rich (mixed charge).		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Del	DEL	ENST00000598441.1	37	c.1034delA	CCDS12756.1																																																																																				0.746	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		2	4						2	4	---	---	---	---	-	49611420	A	-	49611420	7	5	319	1	0	1	0	1	0	0	0	0	14858	246	9	0	1068	0	SNRNP70	19	49611420	Frame_Shift_Del	DEL	A	TCGA-ET-A39T-01A-11D-A19J-08		49611420	9517563	12	5551											
SNX21	90203	broad.mit.edu	37	20	44463079	44463079	+	Silent	SNP	C	C	A			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chr20:44463079C>A	ENST00000491381.1	+	2	329	c.261C>A	c.(259-261)ctC>ctA	p.L87L	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_Silent_p.L78L|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000462307.1_Silent_p.L87L|SNX21_ENST00000372542.1_Silent_p.L78L|SNX21_ENST00000342644.5_Silent_p.L87L			Q969T3	SNX21_HUMAN	sorting nexin family member 21	87					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AGCTGCCCCTCGGGGATGGGA	0.692																																						uc002xpv.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(259-261)ctC>ctA		Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.							23	30	27					20																	44463079		2201	4297	6498	SO:0001819	synonymous_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463079C>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.261C>A	20.37:g.44463079C>A			Somatic				SNX21_uc002xpt.1_Silent_p.L87L|SNX21_uc002xps.1_Silent_p.L87L|SNX21_uc002xpu.1_Silent_p.L87L|SNX21_uc002xpw.1_5'UTR|SNX21_uc010zxd.1_Silent_p.L78L|SNX21_uc002xpy.1_5'Flank	p.L87L	NM_033421	NP_219489	WXS	Illumina GAIIx	Phase_I	Q969T3	SNX21_HUMAN			1	350	+		Myeloproliferative disorder(115;0.0122)	87					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Silent	SNP	ENST00000491381.1	37	c.261C>A	CCDS13377.1																																																																																				0.692	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		3	22	0	0	0	1	0	3	22					A	44463079	C	A	44463079	2	1	319	1	0	0	0	0	0	0	0	1	14893	871	31	4		4	SNX21	20	44463079	Silent	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		44463079	18562441	13	5552											
ASMTL	8623	broad.mit.edu	37	X	1540713	1540713	+	Silent	SNP	C	C	T			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:1540713C>T	ENST00000381317.3	-	9	1115	c.1083G>A	c.(1081-1083)gcG>gcA	p.A361A	ASMTL_ENST00000534940.1_Silent_p.A303A|ASMTL_ENST00000416733.2_Silent_p.A285A|ASMTL_ENST00000381333.4_Silent_p.A345A	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	361	ASMT-like.					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)				GGTAGACGTTCGCTGTCTCTG	0.488													c|||	2	0.000399361	0.0015	0	5008	,	,		22567	0		0	False		,,,				2504	0					uc004cpx.2																			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.(1081-1083)gcG>gcA		Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.			,,	7,4051		0,7,2022	341	344	343		909,1035,1083	-3.2	0.0	X		343	0,8386		0,0,4193	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	0,7,6215	TT,TC,CC		0.0,0.1725,0.0563	,,	303/564,345/606,361/622	1540713	7,12437	2029	4193	6222	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1540713C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1083G>A	X.37:g.1540713C>T			Somatic				CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.A345A|ASMTL_uc011mhe.2_Silent_p.A285A|ASMTL_uc011mhf.2_Silent_p.A303A	p.A361A	NM_004192	NP_001166944	WXS	Illumina GAIIx	Phase_I	O95671	ASML_HUMAN			8	1220	-		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)	361			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.1083G>A	CCDS43917.1																																																																																				0.488	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		17	192	0	0	0	1	0	17	192					T	1540713	C	T	1540713	2	4	319	1	0	0	0	0	0	0	0	1	1046	871	31	1		1	ASMTL	23	1540713	Silent	SNP	C	TCGA-ET-A39T-01A-11D-A19J-08		1540713	153729847	14	5553											
THOC2	57187	broad.mit.edu	37	X	122830671	122830671	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A39T-01A-11D-A19J-08	TCGA-ET-A39T-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbd1f35-6cf8-4768-a951-02b2ceeef3ab	a1ac32fc-556d-4096-b3db-fa8a584925f3	g.chrX:122830671G>C	ENST00000245838.8	-	6	398	c.367C>G	c.(367-369)Cta>Gta	p.L123V	THOC2_ENST00000355725.4_Missense_Mutation_p.L123V|THOC2_ENST00000491737.1_Missense_Mutation_p.L8V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	123					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						CGTTCCTTTAGAACTGTGTCT	0.318																																						uc004etu.3																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(367-369)Cta>Gta		Homo sapiens THO complex 2 (THOC2), mRNA.							149	127	134					X																	122830671		1813	4066	5879	SO:0001583	missense	57187				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding	g.chrX:122830671G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.367C>G	X.37:g.122830671G>C	ENSP00000245838:p.Leu123Val		Somatic				THOC2_uc011muh.1_Missense_Mutation_p.L44V|THOC2_uc011mui.1_Missense_Mutation_p.L8V	p.L123V	NM_001081550	NP_001075019	WXS	Illumina GAIIx	Phase_I	Q8NI27	THOC2_HUMAN			5	399	-			123					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.367C>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383752	0.42308	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.77	1.94	0.25998	.	0.000000	0.47455	D	0.000221	T	0.79076	0.4385	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	D;D	0.78314	0.991;0.931	T	0.79184	-0.1908	9	0.54805	T	0.06	-5.7295	13.3716	0.60717	0.252:0.0:0.748:0.0	.	44;123	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	123;123;8;44	.	ENSP00000245838:L123V	L	-	1	2	THOC2	122658352	1.000000	0.71417	0.993000	0.49108	0.785000	0.44390	2.345000	0.44018	-0.019000	0.14055	-1.195000	0.01675	CTA		0.318	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			38	48	0	0	0	1	0	38	48					C	122830671	G	C	122830671	3	2	319	1	0	0	0	0	1	0	0	0	15862	933	33	4	4546	4	THOC2	23	122830671	Missense_Mutation	SNP	G	TCGA-ET-A39T-01A-11D-A19J-08	121289958	122830671	32439889	15	5554											
SF3A3	10946	broad.mit.edu	37	1	38444416	38444416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr1:38444416delT	ENST00000373019.4	-	11	1866	c.911delA	c.(910-912)aatfs	p.N304fs	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Frame_Shift_Del_p.N251fs	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	304					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)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGACTTGGGATTTTTGGCAAA	0.488																																						uc001cci.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(910-912)aatfs		Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.							56	52	54					1																	38444416		2203	4295	6498	SO:0001589	frameshift_variant	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38444416delT	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.911delA	1.37:g.38444416delT	ENSP00000362110:p.Asn304fs		Somatic				SF3A3_uc010oik.2_Frame_Shift_Del_p.N251fs	p.N304fs	NM_006802	NP_006793	WXS	Illumina GAIIx	Phase_I	Q12874	SF3A3_HUMAN			10	1035	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	304					D3DPT5|Q15460|Q5VT87	Frame_Shift_Del	DEL	ENST00000373019.4	37	c.911delA	CCDS428.1																																																																																				0.488	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		2	4						2	4	---	---	---	---	-	38444416	T	-	38444416	7	5	320	1	0	1	0	1	0	0	0	0	14148	1493	52	0	622	0	SF3A3	1	38444416	Frame_Shift_Del	DEL	T	TCGA-ET-A3BN-01A-11D-A19J-08		38444416	210806205	1	5555											
GALNT14	79623	broad.mit.edu	37	2	31147110	31147110	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr2:31147110T>A	ENST00000349752.5	-	13	1894	c.1255A>T	c.(1255-1257)Atc>Ttc	p.I419F	GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000324589.5_Missense_Mutation_p.I424F|GALNT14_ENST00000356174.3_Missense_Mutation_p.I386F|GALNT14_ENST00000420311.2_Missense_Mutation_p.I384F|GALNT14_ENST00000406653.1_Missense_Mutation_p.I399F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	419	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCCTTCTGGATGGAGGACTCC	0.537																																						uc002rns.3																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1270-1272)Atc>Ttc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.							190	177	181					2																	31147110		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31147110T>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1255A>T	2.37:g.31147110T>A	ENSP00000288988:p.Ile419Phe		Somatic				GALNT14_uc002rnq.3_Missense_Mutation_p.I399F|GALNT14_uc010ymr.2_Missense_Mutation_p.I384F|GALNT14_uc002rnr.3_Missense_Mutation_p.I419F|GALNT14_uc010ezo.2_Missense_Mutation_p.I386F	p.I424F	NM_001253826	NP_001240755	WXS	Illumina GAIIx	Phase_I	Q96FL9	GLT14_HUMAN			13	1910	-	Acute lymphoblastic leukemia(172;0.155)		419			Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1270A>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	T	8.444	0.851458	0.17034	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;0.03	4.84	2.28	0.28536	Ricin B-related lectin (1);Ricin B lectin (1);	3.021500	0.02703	N	0.111964	T	0.55832	0.1945	L	0.43152	1.355	0.34724	D	0.728994	B;B;B;B;B	0.09022	0.001;0.002;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.004;0.0;0.0;0.0	T	0.55667	-0.8105	10	0.15952	T	0.53	.	4.0759	0.09904	0.3845:0.1076:0.0:0.5079	.	384;386;424;419;399	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	F	419;424;399;386;384;386	ENSP00000288988:I419F;ENSP00000314500:I424F;ENSP00000385435:I399F;ENSP00000348497:I386F;ENSP00000415514:I384F;ENSP00000406399:I386F	ENSP00000314500:I424F	I	-	1	0	GALNT14	31000614	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.684000	0.46951	1.813000	0.52934	0.460000	0.39030	ATC		0.537	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		28	79	0	0	0	1	0	28	79					A	31147110	T	A	31147110	3	1	320	1	0	0	0	0	1	0	0	0	6212	1464	51	5	415	5	GALNT14	2	31147110	Missense_Mutation	SNP	T	TCGA-ET-A3BN-01A-11D-A19J-08		31147110	212052263	2	5556											
USP49	25862	broad.mit.edu	37	6	41773536	41773536	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr6:41773536C>T	ENST00000394253.3	-	3	1515	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	USP49_ENST00000373009.3_Missense_Mutation_p.D396N|USP49_ENST00000297229.2_Missense_Mutation_p.D396N|USP49_ENST00000373006.1_Missense_Mutation_p.D396N|USP49_ENST00000373010.1_Missense_Mutation_p.D396N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	396	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)			TCCTGTTGGTCGTAGCCGCGG	0.622																																						uc003ori.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.(1186-1188)Gac>Aac		Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.							53	51	52					6																	41773536		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773536C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1186G>A	6.37:g.41773536C>T	ENSP00000377797:p.Asp396Asn		Somatic					p.D396N	NM_018561	NP_061031	WXS	Illumina GAIIx	Phase_I	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1408	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		396					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	C	13.86	2.363947	0.41902	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	N	0.13168	0.305	0.80722	D	1	D	0.56968	0.978	P	0.54372	0.75	T	0.03394	-1.1041	10	0.18276	T	0.48	-23.7779	19.2213	0.93797	0.0:1.0:0.0:0.0	.	396	Q70CQ1-2	.	N	396	ENSP00000377797:D396N;ENSP00000362101:D396N;ENSP00000362100:D396N;ENSP00000362097:D396N;ENSP00000297229:D396N	ENSP00000297229:D396N	D	-	1	0	USP49	41881514	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.818000	0.86416	2.631000	0.89168	0.655000	0.94253	GAC		0.622	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		6	36	0	0	0	1	0	6	36					T	41773536	C	T	41773536	3	4	320	1	0	0	0	0	1	0	0	0	17077	884	31	1	752	1	USP49	6	41773536	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		41773536	129341531	3	5557											
OR56A1	120796	broad.mit.edu	37	11	6048549	6048549	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:6048549C>T	ENST00000316650.5	-	1	422	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.507																																						uc010qzw.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(385-387)cGt>cAt		Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.							127	105	112					11																	6048549		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048549C>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.386G>A	11.37:g.6048549C>T	ENSP00000321246:p.Arg129His		Somatic					p.R129H	NM_001001917	NP_001001917	WXS	Illumina GAIIx	Phase_I	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	423	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	129					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.386G>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043431	0.19748	.	.	ENSG00000180934	ENST00000316650	T	0.77489	-1.1	4.16	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.161506	0.29218	N	0.012783	T	0.80444	0.4624	M	0.92219	3.285	0.22446	N	0.999096	B	0.21520	0.057	B	0.20955	0.032	T	0.74106	-0.3772	10	0.66056	D	0.02	.	9.2606	0.37610	0.0:0.8182:0.0:0.1818	.	129	Q8NGH5	O56A1_HUMAN	H	129	ENSP00000321246:R129H	ENSP00000321246:R129H	R	-	2	0	OR56A1	6005125	0.999000	0.42202	0.978000	0.43139	0.002000	0.02628	3.913000	0.56394	0.511000	0.28236	-0.136000	0.14681	CGT		0.507	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		28	40	0	0	0	1	0	28	40					T	6048549	C	T	6048549	3	4	320	1	0	0	0	0	1	0	0	0	11133	536	19	1	574	1	OR56A1	11	6048549	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		6048549	128957967	4	5558											
SYTL2	54843	broad.mit.edu	37	11	85436918	85436918	+	Intron	SNP	A	A	G			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr11:85436918A>G	ENST00000528231.1	-	7	1737				SYTL2_ENST00000359152.5_Silent_p.L718L|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L194L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Silent_p.L194L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CACTTGGTTCAAGCACTTGTT	0.403																																						uc001pbb.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(580-582)ctT>ctC		Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant c, mRNA.							126	117	120					11																	85436918		2203	4299	6502	SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr11:85436918A>G	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2020T>C	11.37:g.85436918A>G			Somatic				SYTL2_uc010rtg.2_Intron|SYTL2_uc010rth.2_Intron|SYTL2_uc010rti.2_Intron|SYTL2_uc010rtj.2_Intron|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Silent_p.L194L|SYTL2_uc001pbc.3_Silent_p.L194L|SYTL2_uc010rtf.2_Intron	p.L194L	NM_206927	NP_996810	WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	0	594	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	231					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.582T>C	CCDS53688.1																																																																																				0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		9	84	0	0	0	1	0	9	84					G	85436918	A	G	85436918	1	3	320	0	1	0	0	0	0	0	0	0	15480	117	5	3		3	SYTL2	11	85436918	Intron	SNP	A	TCGA-ET-A3BN-01A-11D-A19J-08	79388369	85436918	49569598	5	5559											
PITPNM2	57605	broad.mit.edu	37	12	123472877	123472877	+	Silent	SNP	G	G	A			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr12:123472877G>A	ENST00000542749.1	-	18	2964	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	PITPNM2_ENST00000320201.4_Silent_p.S967S|PITPNM2_ENST00000392428.1_Silent_p.S688S|PITPNM2_ENST00000280562.5_Silent_p.S961S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	967					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)		CCAAGATGCTGGAGTTGTCAT	0.632																																						uc001uej.1																			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.(2899-2901)tcC>tcT		Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.							133	130	131					12																	123472877		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472877G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2901C>T	12.37:g.123472877G>A			Somatic				PITPNM2_uc001uek.1_Silent_p.S961S	p.S967S	NM_020845	NP_065896	WXS	Illumina GAIIx	Phase_I	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	18	3100	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		967					Q9P271	Silent	SNP	ENST00000542749.1	37	c.2901C>T	CCDS9242.1																																																																																				0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		10	146	0	0	0	1	0	10	146					A	123472877	G	A	123472877	2	1	320	1	0	0	0	0	0	0	0	1	11951	1335	47	2		2	PITPNM2	12	123472877	Silent	SNP	G	TCGA-ET-A3BN-01A-11D-A19J-08		123472877	10379018	6	5560											
NFATC4	4776	broad.mit.edu	37	14	24839190	24839190	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr14:24839190G>A	ENST00000250373.4	+	2	727	c.586G>A	c.(586-588)Gac>Aac	p.D196N	NFATC4_ENST00000553879.1_Missense_Mutation_p.D126N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D209N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D228N|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.D228N|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000555453.1_Missense_Mutation_p.D184N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D184N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D196N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D184N|NFATC4_ENST00000413692.2_Missense_Mutation_p.D259N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D196N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D228N|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000554661.1_Missense_Mutation_p.D126N|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000557451.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D126N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D209N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D209N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D259N	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	196	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGCAGCCTGCGACGAGGTGGA	0.682																																						uc010tol.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(775-777)Gac>Aac		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.							24	26	25					14																	24839190		2187	4282	6469	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24839190G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.586G>A	14.37:g.24839190G>A	ENSP00000250373:p.Asp196Asn		Somatic				NFATC4_uc010alr.3_Missense_Mutation_p.D259N|NFATC4_uc010tok.2_Missense_Mutation_p.D259N|NFATC4_uc010als.2_Missense_Mutation_p.D209N|NFATC4_uc010too.2_Missense_Mutation_p.D209N|NFATC4_uc010tom.2_Missense_Mutation_p.D209N|NFATC4_uc010ton.2_Missense_Mutation_p.D209N|NFATC4_uc010toq.2_Missense_Mutation_p.D228N|NFATC4_uc010alt.3_Missense_Mutation_p.D228N|NFATC4_uc010top.2_Missense_Mutation_p.D228N|NFATC4_uc010alu.3_Intron|NFATC4_uc001wpc.3_Missense_Mutation_p.D196N|NFATC4_uc010tor.2_Missense_Mutation_p.D196N|NFATC4_uc010tos.2_Missense_Mutation_p.D126N|NFATC4_uc010tot.2_Missense_Mutation_p.D184N|NFATC4_uc010tou.2_Missense_Mutation_p.D126N|NFATC4_uc010tov.2_Missense_Mutation_p.D184N|NFATC4_uc010tow.2_Missense_Mutation_p.D126N|NFATC4_uc010alv.3_Missense_Mutation_p.D184N|NFATC4_uc010tox.2_Missense_Mutation_p.D126N|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	p.D259N	NM_001198966	NP_001185895	WXS	Illumina GAIIx	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	891	+			196			2 approximate SP repeats.|Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.775G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614368	0.87359	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	3.78	3.78	0.43462	.	0.101946	0.40818	N	0.001020	T	0.35451	0.0932	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.994;1.0;0.994;1.0;1.0;0.994;0.994;0.994;0.994;1.0;0.99;1.0;1.0	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.71656	0.649;0.649;0.974;0.736;0.974;0.974;0.649;0.736;0.736;0.649;0.974;0.548;0.974;0.942	T	0.09773	-1.0659	10	0.54805	T	0.06	-8.7055	13.4819	0.61340	0.0:0.0:1.0:0.0	.	184;184;228;228;209;209;209;259;259;184;228;173;259;196	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	N	259;259;209;209;209;228;228;228;196;196;196;173;126;126;126;184;126;184;184	ENSP00000388910:D259N;ENSP00000452039:D259N;ENSP00000451224:D209N;ENSP00000450644:D209N;ENSP00000388668:D209N;ENSP00000439350:D228N;ENSP00000452270:D228N;ENSP00000451502:D228N;ENSP00000451151:D196N;ENSP00000250373:D196N;ENSP00000450590:D196N;ENSP00000452352:D173N;ENSP00000452349:D126N;ENSP00000450469:D126N;ENSP00000450733:D126N;ENSP00000451454:D184N;ENSP00000451284:D126N;ENSP00000396788:D184N;ENSP00000450686:D184N	ENSP00000250373:D196N	D	+	1	0	NFATC4	23909030	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	8.754000	0.91642	2.093000	0.63338	0.467000	0.42956	GAC		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		3	32	0	0	0	1	0	3	32					A	24839190	G	A	24839190	3	1	320	1	0	0	0	0	1	0	0	0	10365	1058	37	1	785	1	NFATC4	14	24839190	Missense_Mutation	SNP	G	TCGA-ET-A3BN-01A-11D-A19J-08		24839190	82510350	7	5561											
BRCA1	672	broad.mit.edu	37	17	41246314	41246314	+	Missense_Mutation	SNP	C	C	T	rs397508848		TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chr17:41246314C>T	ENST00000357654.3	-	10	1352	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.V116I|BRCA1_ENST00000471181.2_Missense_Mutation_p.V412I|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365I|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412I|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412I|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	412					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V412L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTCCAATACATCAGCTACT	0.383			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002ict.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		1	Substitution - Missense(1)	p.V412L(2)	lung(1)	NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(1234-1236)Gta>Ata	Homologous recombination	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 2, mRNA.							93	89	90					17																	41246314		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		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|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|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 DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|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	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246314C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1234G>A	17.37:g.41246314C>T	ENSP00000350283:p.Val412Ile	TCGA Ovarian(2;0.000030)	Somatic				BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.V341I|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.V365I|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc002icq.3_Missense_Mutation_p.V412I|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.V412I|BRCA1_uc002ide.1_Missense_Mutation_p.V243I|BRCA1_uc010cyy.1_Missense_Mutation_p.V412I|BRCA1_uc010whs.1_Missense_Mutation_p.V412I|BRCA1_uc010cyz.2_Missense_Mutation_p.V365I|BRCA1_uc010cza.2_Missense_Mutation_p.V386I|BRCA1_uc010wht.1_Missense_Mutation_p.V116I	p.V412I	NM_007300	NP_009231	WXS	Illumina GAIIx	Phase_I	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1466	-		Breast(137;0.000717)	412					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1234G>A	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.420|4.420	0.077637|0.077637	0.08485|0.08485	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000473961|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	.|D;D;D;D;D;D;D;D;D;D	.|0.90844	.|-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	4.69|4.69	1.12|1.12	0.20585|0.20585	.|.	.|0.820011	.|0.10800	.|N	.|0.632832	D|D	0.84401|0.84401	0.5464|0.5464	L|L	0.37850|0.37850	1.14|1.14	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.22541	.|0.007;0.007;0.019;0.016;0.071;0.001	.|B;B;B;B;B;B	.|0.26310	.|0.008;0.008;0.016;0.016;0.068;0.009	T|T	0.73717|0.73717	-0.3895|-0.3895	5|10	.|0.59425	.|D	.|0.04	.|.	5.3564|5.3564	0.16063|0.16063	0.0:0.6344:0.1574:0.2083|0.0:0.6344:0.1574:0.2083	.|.	.|412;371;412;412;412;412	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	I|I	277|412;412;412;412;116;412;365;412;386;116;412	.|ENSP00000350283:V412I;ENSP00000326002:V412I;ENSP00000246907:V412I;ENSP00000310938:V116I;ENSP00000418960:V412I;ENSP00000418775:V365I;ENSP00000419274:V412I;ENSP00000419988:V386I;ENSP00000418986:V116I;ENSP00000419103:V412I	.|ENSP00000310938:V116I	M|V	-|-	3|1	0|0	BRCA1|BRCA1	38499840|38499840	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.239000|0.239000	0.18023|0.18023	0.144000|0.144000	0.18951|0.18951	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.383	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		9	114	0	0	0	1	0	9	114					T	41246314	C	T	41246314	3	4	320	1	0	0	0	0	1	0	0	0	1498	478	17	2	4483	2	BRCA1	17	41246314	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		41246314	39948896	8	5562											
PIR	8544	broad.mit.edu	37	X	15509287	15509287	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BN-01A-11D-A19J-08	TCGA-ET-A3BN-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67c66136-9911-40da-a760-b6bc24de8e5e	d652b345-76f2-4f08-bc75-ced94e1c9491	g.chrX:15509287C>T	ENST00000380421.3	-	2	554	c.94G>A	c.(94-96)Gag>Aag	p.E32K	PIR_ENST00000380420.5_Missense_Mutation_p.E32K|PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	32					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TAGCATACCTCGGGTCTGCCA	0.552																																					Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.3																			0		p.P31P(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(94-96)Gag>Aag		Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.							153	137	142					X																	15509287		2203	4300	6503	SO:0001583	missense	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15509287C>T	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.94G>A	X.37:g.15509287C>T	ENSP00000369786:p.Glu32Lys		Somatic				FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Missense_Mutation_p.E32K|BMX_uc004cww.3_Intron	p.E32K	NM_003662	NP_003653	WXS	Illumina GAIIx	Phase_I	O00625	PIR_HUMAN			1	579	-	Hepatocellular(33;0.183)		32					Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	c.94G>A	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972468	0.18736	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.41758	0.99;0.99	5.53	4.66	0.58398	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Pirin, N-terminal (1);	0.049909	0.85682	D	0.000000	T	0.29684	0.0741	N	0.25957	0.775	0.80722	D	1	P	0.46706	0.883	B	0.42827	0.399	T	0.02925	-1.1093	10	0.14252	T	0.57	-2.5747	11.3191	0.49410	0.0:0.8212:0.1788:0.0	.	32	O00625	PIR_HUMAN	K	32	ENSP00000369785:E32K;ENSP00000369786:E32K	ENSP00000369785:E32K	E	-	1	0	PIR	15419208	0.991000	0.36638	0.249000	0.24280	0.259000	0.26198	3.830000	0.55768	1.081000	0.41110	0.600000	0.82982	GAG		0.552	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		11	136	0	0	0	1	0	11	136					T	15509287	C	T	15509287	3	4	320	1	0	0	0	0	1	0	0	0	11944	893	31	1	814	1	PIR	23	15509287	Missense_Mutation	SNP	C	TCGA-ET-A3BN-01A-11D-A19J-08		15509287	139761273	9	5563											
C1orf173	127254	broad.mit.edu	37	1	75102110	75102110	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr1:75102110G>A	ENST00000326665.5	-	6	675	c.457C>T	c.(457-459)Cca>Tca	p.P153S	C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		153										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCAGTATATGGTCGAGGGGCT	0.403																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(457-459)Cca>Tca		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							191	200	197					1																	75102110		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75102110G>A																												ENST00000326665.5:c.457C>T	1.37:g.75102110G>A	ENSP00000322609:p.Pro153Ser		Somatic				C1orf173_uc001dgi.4_5'Flank	p.P153S	NM_001002912	NP_001002912	WXS	Illumina GAIIx	Phase_I	Q5RHP9	CA173_HUMAN			5	676	-			153					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.457C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207134	0.79127	.	.	ENSG00000178965	ENST00000326665	T	0.57907	0.37	5.35	5.35	0.76521	.	.	.	.	.	T	0.65984	0.2744	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66889	-0.5809	9	0.59425	D	0.04	-12.8188	18.2066	0.89857	0.0:0.0:1.0:0.0	.	153	Q5RHP9	CA173_HUMAN	S	153	ENSP00000322609:P153S	ENSP00000322609:P153S	P	-	1	0	C1orf173	74874698	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.569000	0.73992	2.661000	0.90470	0.557000	0.71058	CCA		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			15	264	0	0	0	1	0	15	264					A	75102110	G	A	75102110	3	1	321	1	0	0	0	0	1	0	0	0	2014	1261	44	2	4171	2	C1orf173	1	75102110	Missense_Mutation	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08		75102110	174148511	1	5564											
LTBP1	4052	broad.mit.edu	37	2	33335734	33335734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr2:33335734C>T	ENST00000404816.2	+	4	1302	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q317*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	317					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTTCCAGCCCAGAAGGGGAT	0.483																																						uc021vft.1																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(949-951)Cag>Tag		Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.							123	123	123					2																	33335734		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33335734C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.949C>T	2.37:g.33335734C>T	ENSP00000386043:p.Gln317*		Somatic					p.Q317*	NM_206943	NP_996826	WXS	Illumina GAIIx	Phase_I	Q14766	LTBP1_HUMAN			3	972	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	317					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.949C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	37	6.058320	0.97246	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.7096	0.62661	0.3371:0.6629:0.0:0.0	.	.	.	.	X	317	.	ENSP00000346467:Q317X	Q	+	1	0	LTBP1	33189238	0.999000	0.42202	0.748000	0.31131	0.045000	0.14185	2.854000	0.48325	1.300000	0.44818	-0.188000	0.12872	CAG		0.483	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		12	134	0	0	0	1	0	12	134					T	33335734	C	T	33335734	4	4	321	1	0	0	0	0	0	1	0	0	9073	595	21	2	963	2	LTBP1	2	33335734	Nonsense_Mutation	SNP	C	TCGA-ET-A3BO-01A-11D-A19J-08		33335734	209863639	2	5565											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	68	0	0	0	1	0	35	68					T	140453136	A	T	140453136	3	4	321	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BO-01A-11D-A19J-08		140453136	18685527	3	5566											
TG	7038	broad.mit.edu	37	8	133981764	133981765	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr8:133981764_133981765insAT	ENST00000220616.4	+	32	5965_5966	c.5925_5926insAT	c.(5926-5928)atafs	p.I1976fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.I1919fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.I130fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.I346fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1976					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)		AACTGATGGGGATATCCATTAG	0.347																																						uc003ytw.3																			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.(5923-5928)gggatafs		Homo sapiens thyroglobulin (TG), mRNA.																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133981764_133981765insAT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5928_5929dupAT	8.37:g.133981767_133981768dupAT	ENSP00000220616:p.Ile1976fs		Somatic				TG_uc010mdw.3_Frame_Shift_Ins_p.G734fs|TG_uc011ljb.2_Frame_Shift_Ins_p.G344fs|TG_uc011ljc.2_Frame_Shift_Ins_p.G129fs	p.G1975fs	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	31	5966_5967	+	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)	1975					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.5925_5926insAT	CCDS34944.1																																																																																				0.347	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		38	85						38	85	---	---	---	---	AT	133981765	-	AT	133981764	7	5	321	1	0	1	1	0	0	0	0	0	15810	1161	41	0	6051	0	TG	8	133981764	Frame_Shift_Ins	INS	-	TCGA-ET-A3BO-01A-11D-A19J-08		133981764	12382258	4	5567											
H2AFX	3014	broad.mit.edu	37	11	118966071	118966071	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr11:118966071G>T	ENST00000530167.1	-	1	106	c.34C>A	c.(34-36)Cgc>Agc	p.R12S		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	12					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GCCTTGGCGCGGGCCTTGCCG	0.687								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvg.3																			0				lung(3)	3						c.(34-36)Cgc>Agc	Chromatin Structure	Homo sapiens H2A histone family, member X (H2AFX), mRNA.							5	7	6					11																	118966071		1925	3910	5835	SO:0001583	missense	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118966071G>T	X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.34C>A	11.37:g.118966071G>T	ENSP00000434024:p.Arg12Ser		Somatic	OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.R12S	NM_002105	NP_002096	WXS	Illumina GAIIx	Phase_I	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	0	107	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	12					Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	ENST00000530167.1	37	c.34C>A	CCDS8410.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006843	0.93287	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	D;D	0.84873	-1.91;-1.91	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.64402	D	0.000012	D	0.86669	0.5988	L	0.28740	0.885	0.80722	D	1	D	0.56035	0.974	P	0.57057	0.812	D	0.86525	0.1818	10	0.48119	T	0.1	.	19.0593	0.93080	0.0:0.0:1.0:0.0	.	12	P16104	H2AX_HUMAN	S	12	ENSP00000434024:R12S;ENSP00000364310:R12S	ENSP00000364310:R12S	R	-	1	0	H2AFX	118471281	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.267000	0.65530	2.751000	0.94390	0.655000	0.94253	CGC		0.687	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		4	15	0	0	0	1	0	4	15					T	118966071	G	T	118966071	3	4	321	1	0	0	0	0	1	0	0	0	6928	1116	39	4	401	4	H2AFX	11	118966071	Missense_Mutation	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08		118966071	16040445	5	5568											
EMR2	30817	broad.mit.edu	37	19	14865797	14865797	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr19:14865797A>G	ENST00000315576.3	-	14	2010	c.1559T>C	c.(1558-1560)tTt>tCt	p.F520S	EMR2_ENST00000392964.3_Silent_p.L184L|EMR2_ENST00000392967.2_Missense_Mutation_p.F509S|EMR2_ENST00000346057.1_Missense_Mutation_p.F471S|EMR2_ENST00000595839.1_Missense_Mutation_p.F378S|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.F509S|EMR2_ENST00000353876.1_Missense_Mutation_p.F427S|EMR2_ENST00000601345.1_Missense_Mutation_p.F509S|EMR2_ENST00000594294.1_Missense_Mutation_p.F471S|EMR2_ENST00000353005.1_Missense_Mutation_p.F378S|EMR2_ENST00000594076.1_Missense_Mutation_p.F427S	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	520	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GAGGACGGCAAAGCTGCTCAG	0.572																																						uc002mzp.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1558-1560)tTt>tCt		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.							162	122	136					19																	14865797		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr19:14865797A>G	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1559T>C	19.37:g.14865797A>G	ENSP00000319883:p.Phe520Ser		Somatic				EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Missense_Mutation_p.F509S|EMR2_uc002mzq.1_Missense_Mutation_p.F460S|EMR2_uc002mzr.1_Missense_Mutation_p.F471S|EMR2_uc002mzs.1_Missense_Mutation_p.F378S|EMR2_uc002mzt.1_Missense_Mutation_p.F416S|EMR2_uc002mzu.1_Missense_Mutation_p.F427S|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	p.F520S	NM_013447	NP_038475	WXS	Illumina GAIIx	Phase_I	Q9UHX3	EMR2_HUMAN			13	2015	-			520			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1559T>C	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.552670	0.45487	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.05	4.05	0.47172	GPS domain (3);	.	.	.	.	D	0.95059	0.8400	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.995;0.988;0.997;0.995;0.997;0.997;0.995	D	0.95376	0.8469	9	0.87932	D	0	.	9.9468	0.41613	1.0:0.0:0.0:0.0	.	427;520;378;471;520;520;509	Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	S	520;509;471;427;378	ENSP00000319883:F520S;ENSP00000376694:F509S;ENSP00000263380:F471S;ENSP00000319454:F427S;ENSP00000319838:F378S	ENSP00000319883:F520S	F	-	2	0	EMR2	14726797	1.000000	0.71417	0.989000	0.46669	0.008000	0.06430	6.198000	0.72106	1.763000	0.52060	0.416000	0.27883	TTT		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			4	68	0	0	0	1	0	4	68					G	14865797	A	G	14865797	3	3	321	1	0	0	0	0	1	0	0	0	5105	14	1	3	944	3	EMR2	19	14865797	Missense_Mutation	SNP	A	TCGA-ET-A3BO-01A-11D-A19J-08		14865797	44263186	6	5569											
OR7A17	26333	broad.mit.edu	37	19	14992048	14992048	+	Silent	SNP	G	G	A			TCGA-ET-A3BO-01A-11D-A19J-08	TCGA-ET-A3BO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e8ce68-6e9b-44c5-8cd3-4c39429460fa	cd5ab7a6-9a19-42a0-bdbd-5b2cb36218ff	g.chr19:14992048G>A	ENST00000327462.2	-	1	216	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GCAGATTCCCGAGCACAGTGA	0.502																																						uc010xob.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(118-120)ctC>ctT		Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.							57	48	51					19																	14992048		2203	4299	6502	SO:0001819	synonymous_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14992048G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.120C>T	19.37:g.14992048G>A			Somatic					p.L40L	NM_030901	NP_112163	WXS	Illumina GAIIx	Phase_I	O14581	OR7AH_HUMAN			0	120	-	Ovarian(108;0.203)		40					Q6IFQ6|Q96R98	Silent	SNP	ENST00000327462.2	37	c.120C>T	CCDS12319.1																																																																																				0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		6	62	0	0	0	1	0	6	62					A	14992048	G	A	14992048	2	1	321	1	0	0	0	0	0	0	0	1	11215	1045	37	1		1	OR7A17	19	14992048	Silent	SNP	G	TCGA-ET-A3BO-01A-11D-A19J-08	126251	14992048	44136935	7	5570											
KHDRBS2	202559	broad.mit.edu	37	6	62688015	62688015	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr6:62688015G>A	ENST00000281156.4	-	4	717	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGACTCATACGTGAATAAGCT	0.368																																						uc003peg.2																			0		p.S146L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(439-441)Cgt>Tgt		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.							117	109	112					6																	62688015		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62688015G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.439C>T	6.37:g.62688015G>A	ENSP00000281156:p.Arg147Cys		Somatic					p.R147C	NM_152688	NP_689901	WXS	Illumina GAIIx	Phase_I	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	3	686	-			147					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.439C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894826	0.91962	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.19938	2.11	5.46	5.46	0.80206	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45848	-0.9233	10	0.87932	D	0	-2.563	19.3174	0.94220	0.0:0.0:1.0:0.0	.	147	Q5VWX1	KHDR2_HUMAN	C	147	ENSP00000281156:R147C	ENSP00000281156:R147C	R	-	1	0	KHDRBS2	62745974	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.837000	0.99465	2.569000	0.86673	0.650000	0.86243	CGT		0.368	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		27	40	0	0	0	1	0	27	40					A	62688015	G	A	62688015	3	1	322	1	0	0	0	0	1	0	0	0	8147	1145	40	1	634	1	KHDRBS2	6	62688015	Missense_Mutation	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08		62688015	108427052	1	5571											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	46	0	0	0	1	0	37	46					T	140453136	A	T	140453136	3	4	322	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BP-01A-21D-A19J-08		140453136	18685527	2	5572											
ATF7IP2	80063	broad.mit.edu	37	16	10524630	10524630	+	Silent	SNP	G	G	A			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr16:10524630G>A	ENST00000396560.2	+	3	380	c.153G>A	c.(151-153)caG>caA	p.Q51Q	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.Q51Q|ATF7IP2_ENST00000356427.2_Silent_p.Q51Q|ATF7IP2_ENST00000396559.1_Silent_p.Q51Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GCGGTAATCAGAGTTTCAGTC	0.408																																						uc002czu.3																			0				large_intestine(3)	3						c.(151-153)caG>caA		Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.							67	64	65					16																	10524630		2197	4300	6497	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524630G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.153G>A	16.37:g.10524630G>A			Somatic				ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czv.3_Silent_p.Q51Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc002czw.3_Silent_p.Q51Q|ATF7IP2_uc010uyq.2_Non-coding_Transcript	p.Q51Q	NM_024997	NP_079273	WXS	Illumina GAIIx	Phase_I	Q5U623	MCAF2_HUMAN			2	380	+			51					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.153G>A	CCDS10540.1																																																																																				0.408	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		21	26	0	0	0	1	0	21	26					A	10524630	G	A	10524630	2	1	322	1	0	0	0	0	0	0	0	1	1088	933	33	2		2	ATF7IP2	16	10524630	Silent	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08		10524630	79830123	3	5573											
ADCY7	113	broad.mit.edu	37	16	50339756	50339756	+	Missense_Mutation	SNP	G	G	A	rs77603243	byFrequency	TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chr16:50339756G>A	ENST00000394697.2	+	14	2088	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.R583H|ADCY7_ENST00000538642.1_Missense_Mutation_p.R583H|ADCY7_ENST00000254235.3_Missense_Mutation_p.R583H			P51828	ADCY7_HUMAN	adenylate cyclase 7	583					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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GGCTTTGAGCGCGAGGTGAGG	0.672													G|||	2	0.000399361	0	0.0014	5008	,	,		14413	0		0.001	False		,,,				2504	0					uc002egd.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1747-1749)cGc>cAc		Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	Bromocriptine(DB01200)	G	HIS/ARG	0,4396		0,0,2198	44	42	43		1748	3.0	1.0	16	dbSNP_131	43	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ADCY7	NM_001114.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	583/1081	50339756	1,12995	2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	g.chr16:50339756G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1748G>A	16.37:g.50339756G>A	ENSP00000378187:p.Arg583His		Somatic				ADCY7_uc002egc.2_Missense_Mutation_p.R583H	p.R583H	NM_001114	NP_001105	WXS	Illumina GAIIx	Phase_I	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	12	2016	+		all_cancers(37;0.0127)	583					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1748G>A	CCDS10741.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	16.14	3.037475	0.54896	0.0	1.16E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.76578	-1.03;-1.03;-1.03	5.34	3.02	0.34903	.	0.581491	0.12396	U	0.472558	T	0.68595	0.3018	L	0.51422	1.61	0.80722	D	1	B;B	0.15473	0.01;0.013	B;B	0.18263	0.013;0.021	T	0.60193	-0.7311	10	0.23302	T	0.38	.	6.6909	0.23171	0.3471:0.0:0.6529:0.0	.	583;583	P51828;F5H4D1	ADCY7_HUMAN;.	H	583	ENSP00000445046:R583H;ENSP00000378187:R583H;ENSP00000254235:R583H	ENSP00000254235:R583H	R	+	2	0	ADCY7	48897257	0.968000	0.33430	0.984000	0.44739	0.888000	0.51559	1.118000	0.31246	1.231000	0.43661	0.591000	0.81541	CGC		0.672	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			12	26	0	0	0	1	0	12	26					A	50339756	G	A	50339756	3	1	322	1	0	0	0	0	1	0	0	0	299	1087	38	1	1798	1	ADCY7	16	50339756	Missense_Mutation	SNP	G	TCGA-ET-A3BP-01A-21D-A19J-08	39815126	50339756	40014997	4	5574											
MXRA5	25878	broad.mit.edu	37	X	3242413	3242413	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A3BP-01A-21D-A19J-08	TCGA-ET-A3BP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38e76335-cbaa-4fa3-a6dc-699dff962ddb	87416984-7a05-45a1-89c1-b48a30cc6f22	g.chrX:3242413T>G	ENST00000217939.6	-	5	1467	c.1313A>C	c.(1312-1314)gAt>gCt	p.D438A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	438						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGCTGGATATCTATGGATGG	0.483																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1312-1314)gAt>gCt		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							117	113	115					X																	3242413		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242413T>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1313A>C	X.37:g.3242413T>G	ENSP00000217939:p.Asp438Ala		Somatic					p.D438A	NM_015419	NP_056234	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			4	1470	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	438					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1313A>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	4.547	0.101597	0.08731	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62639	0.01	3.63	3.63	0.41609	.	0.347256	0.20108	U	0.099087	T	0.49184	0.1542	M	0.65975	2.015	0.09310	N	1	B	0.33694	0.421	B	0.25140	0.058	T	0.37934	-0.9684	10	0.07325	T	0.83	.	7.756	0.28925	0.1893:0.0:0.0:0.8107	.	438	Q9NR99	MXRA5_HUMAN	A	438	ENSP00000217939:D438A	ENSP00000217939:D438A	D	-	2	0	MXRA5	3252413	0.944000	0.32072	0.001000	0.08648	0.308000	0.27856	3.052000	0.49893	1.167000	0.42706	0.352000	0.21897	GAT		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		31	97	0	0	0	1	0	31	97					G	3242413	T	G	3242413	3	3	322	1	0	0	0	0	1	0	0	0	10003	1435	50	5	7185	5	MXRA5	23	3242413	Missense_Mutation	SNP	T	TCGA-ET-A3BP-01A-21D-A19J-08		3242413	152028147	5	5575											
VAV3	10451	broad.mit.edu	37	1	108292102	108292102	+	Silent	SNP	G	G	A	rs143070546		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr1:108292102G>A	ENST00000370056.4	-	14	1648	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	VAV3_ENST00000527011.1_Silent_p.T458T|VAV3_ENST00000371846.4_Silent_p.T393T|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	458	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		TTTCTTTATCGGTTGTAGGAT	0.294													G|||	1	0.000199681	8e-04	0	5008	,	,		18953	0		0	False		,,,				2504	0					uc010ouw.1																			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.(1372-1374)acC>acT		Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.							144	132	137					1																	108292102		2202	4299	6501	SO:0001819	synonymous_variant	10451				B cell receptor signaling pathway|angiogenesis|apoptosis|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|SH3/SH2 adaptor activity|metal ion binding	g.chr1:108292102G>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1374C>T	1.37:g.108292102G>A			Somatic				VAV3_uc001dvk.1_Silent_p.T458T|VAV3_uc001dvl.1_Silent_p.T282T|VAV3_uc010oux.1_Silent_p.T458T	p.T458T	NM_006113	NP_006104	WXS	Illumina GAIIx	Phase_I	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	13	1428	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	458			PH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1374C>T	CCDS785.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.209	0.595054	0.13875	.	.	ENSG00000134215	ENST00000529809;ENST00000490388	.	.	.	5.83	-3.51	0.04696	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33727	-0.9857	4	.	.	.	.	2.4834	0.04593	0.2864:0.3991:0.1195:0.1949	.	.	.	.	L	10;453	.	.	P	-	2	0	VAV3	108093625	0.004000	0.15560	0.968000	0.41197	0.924000	0.55760	-0.998000	0.03701	-0.845000	0.04179	-1.295000	0.01343	CCG		0.294	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		9	42	0	0	0	1	0	9	42					A	108292102	G	A	108292102	2	1	323	1	0	0	0	0	0	0	0	1	17130	1103	39	1		1	VAV3	1	108292102	Silent	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		108292102	140958519	1	5576											
SLC8A1	6546	broad.mit.edu	37	2	40342407	40342407	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:40342407T>C	ENST00000403092.1	-	11	2941	c.2908A>G	c.(2908-2910)Ata>Gta	p.I970V	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I970V|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I962V|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I965V|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I934V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.I934V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I965V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	970					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGCCTTTTATGTGGCAGTAG	0.408																																						uc002rrx.3																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2908-2910)Ata>Gta		Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						32	37	36					2																	40342407		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342407T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2908A>G	2.37:g.40342407T>C	ENSP00000384763:p.Ile970Val		Somatic				LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.I965V|SLC8A1_uc002rsb.2_Missense_Mutation_p.I962V|SLC8A1_uc002rrz.3_Missense_Mutation_p.I957V|SLC8A1_uc002rsa.3_Missense_Mutation_p.I934V|SLC8A1_uc002rsd.4_Missense_Mutation_p.I934V	p.I970V	NM_021097	NP_066920	WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			9	2932	-			970					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2908A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554508	0.27739	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.37411	1.23;1.24;1.25;1.24;1.23;1.23;1.25;1.2;1.23;1.22	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.77712	2.385	0.53688	D	0.999979	B;D;B;B	0.76494	0.001;0.999;0.282;0.088	B;D;B;B	0.81914	0.002;0.995;0.31;0.06	T	0.64622	-0.6364	10	0.59425	D	0.04	.	14.3518	0.66708	0.0:0.0:0.0:1.0	.	934;957;965;970	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	V	934;970;965;970;965;934;934;970;962;957;934;934	ENSP00000383886:I934V;ENSP00000440727:I965V;ENSP00000384763:I970V;ENSP00000385678:I965V;ENSP00000385188:I934V;ENSP00000385535:I934V;ENSP00000332931:I970V;ENSP00000384908:I962V;ENSP00000385811:I934V;ENSP00000443515:I934V	ENSP00000332931:I970V	I	-	1	0	SLC8A1	40195911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.722000	0.47269	2.275000	0.75901	0.528000	0.53228	ATA		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		3	57	0	0	0	1	0	3	57					C	40342407	T	C	40342407	3	2	323	1	0	0	0	0	1	0	0	0	14706	1464	51	3	17	3	SLC8A1	2	40342407	Missense_Mutation	SNP	T	TCGA-ET-A3BQ-01B-11D-A202-08		40342407	202856966	2	5577											
WIPF1	7456	broad.mit.edu	37	2	175436655	175436655	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:175436655G>A	ENST00000392547.2	-	5	977	c.878C>T	c.(877-879)cCa>cTa	p.P293L	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P293L|WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.P293L|WIPF1_ENST00000409415.3_Missense_Mutation_p.P293L|WIPF1_ENST00000272746.5_Missense_Mutation_p.P293L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P293L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	293	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAAGGCACTGGAGGCTTGTT	0.672																																						uc010fqt.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(877-879)cCa>cTa		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							29	33	32					2																	175436655		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436655G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.878C>T	2.37:g.175436655G>A	ENSP00000376330:p.Pro293Leu		Somatic				BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.P293L|WIPF1_uc002ujc.1_Missense_Mutation_p.P293L|WIPF1_uc002uiz.3_Missense_Mutation_p.P293L|WIPF1_uc002ujb.2_Missense_Mutation_p.P293L|WIPF1_uc010zep.1_Missense_Mutation_p.P293L	p.P293L	NM_003387	NP_003378	WXS	Illumina GAIIx	Phase_I	O43516	WIPF1_HUMAN			4	1042	-			293			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.878C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312460	0.60414	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.58652	0.99;1.0;0.99;0.99;0.32;0.84	4.38	4.38	0.52667	.	0.061457	0.64402	D	0.000003	T	0.74596	0.3737	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.996	T	0.76666	-0.2875	10	0.46703	T	0.11	.	16.5334	0.84366	0.0:0.0:1.0:0.0	.	293;293;293;293	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	L	293	ENSP00000376330:P293L;ENSP00000272746:P293L;ENSP00000352802:P293L;ENSP00000376329:P293L;ENSP00000386431:P293L;ENSP00000387150:P293L	ENSP00000272746:P293L	P	-	2	0	WIPF1	175144901	1.000000	0.71417	0.993000	0.49108	0.203000	0.24098	7.748000	0.85085	1.986000	0.57962	0.430000	0.28490	CCA		0.672	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		3	22	0	0	0	1	0	3	22					A	175436655	G	A	175436655	3	1	323	1	0	0	0	0	1	0	0	0	17364	1348	47	2	649	2	WIPF1	2	175436655	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	135094248	175436655	67762718	3	5578											
UBE2F	140739	broad.mit.edu	37	2	238939226	238939226	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr2:238939226C>T	ENST00000272930.4	+	7	577	c.383C>T	c.(382-384)aCt>aTt	p.T128I	UBE2F_ENST00000409332.1_Missense_Mutation_p.T106I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409633.1_Missense_Mutation_p.T128I|UBE2F_ENST00000409953.1_Missense_Mutation_p.T104I|UBE2F_ENST00000414443.1_Missense_Mutation_p.T96I|RNU6-1333P_ENST00000516162.1_RNA	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	128					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		ATTGATGGCACTGGCTGGGCT	0.502																																						uc002vxk.3																			0				endometrium(1)|large_intestine(1)	2						c.(382-384)aCt>aTt		Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.							130	112	118					2																	238939226		2203	4300	6503	SO:0001583	missense	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238939226C>T	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"Ubiquitin-conjugating enzymes E2"	12480	protein-coding gene	gene with protein product	"NEDD8 conjugating enzyme"					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.383C>T	2.37:g.238939226C>T	ENSP00000272930:p.Thr128Ile		Somatic				UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.T96I|UBE2F_uc010znp.2_Intron|SCLY_uc002vxm.4_5'UTR	p.T128I	NM_080678	NP_542409	WXS	Illumina GAIIx	Phase_I	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	6	587	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	128					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	ENST00000272930.4	37	c.383C>T	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315734	0.40996	.	.	ENSG00000184182	ENST00000272930;ENST00000448502;ENST00000416292;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332;ENST00000434655;ENST00000434137	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.049212	0.85682	D	0.000000	T	0.73560	0.3602	L	0.34521	1.04	0.44643	D	0.997623	B;B	0.30068	0.061;0.267	B;P	0.47864	0.068;0.559	T	0.73113	-0.4085	10	0.45353	T	0.12	-1.184	16.1839	0.81934	0.0:1.0:0.0:0.0	.	96;128	Q969M7-3;Q969M7	.;UBE2F_HUMAN	I	128;139;96;128;96;104;106;128;118	ENSP00000272930:T128I;ENSP00000390813:T96I;ENSP00000387299:T128I;ENSP00000399183:T96I;ENSP00000386680:T104I;ENSP00000387060:T106I;ENSP00000406113:T128I;ENSP00000414619:T118I	ENSP00000272930:T128I	T	+	2	0	UBE2F	238603965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.171000	0.71926	2.419000	0.82065	0.655000	0.94253	ACT		0.502	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		8	18	0	0	0	1	0	8	18					T	238939226	C	T	238939226	3	4	323	1	0	0	0	0	1	0	0	0	16852	565	20	2	405	2	UBE2F	2	238939226	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	63502571	238939226	4260147	4	5579											
CCDC39	339829	broad.mit.edu	37	3	180381735	180381735	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr3:180381735C>T	ENST00000442201.2	-	2	249	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E128K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	44					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCACGTAACTCATCTTGCAAG	0.333																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(130-132)Gag>Aag		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							155	144	147					3																	180381735		1846	4108	5954	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381735C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.130G>A	3.37:g.180381735C>T	ENSP00000405708:p.Glu44Lys		Somatic				CCDC39_uc003fkn.3_Non-coding_Transcript	p.E44K	NM_181426	NP_852091	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		1	245	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		44					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.130G>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414176	0.25465	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.79940	-1.32	6.07	4.25	0.50352	.	0.261298	0.44097	D	0.000491	T	0.66799	0.2826	N	0.13098	0.295	0.26601	N	0.973013	B	0.14438	0.01	B	0.17098	0.017	T	0.53229	-0.8468	10	0.27785	T	0.31	-11.5444	14.3314	0.66559	0.0:0.2868:0.7132:0.0	.	44	Q9UFE4	CCD39_HUMAN	K	128;44;26	ENSP00000418702:E26K	ENSP00000273654:E128K	E	-	1	0	CCDC39	181864429	0.999000	0.42202	0.792000	0.32020	0.226000	0.24999	1.157000	0.31724	0.872000	0.35775	-0.234000	0.12200	GAG		0.333	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		9	65	0	0	0	1	0	9	65					T	180381735	C	T	180381735	3	4	323	1	0	0	0	0	1	0	0	0	2811	835	29	2	2771	2	CCDC39	3	180381735	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		180381735	17640695	5	5580											
MRFAP1L1	114932	broad.mit.edu	37	4	6711139	6711139	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:6711139G>A	ENST00000320848.6	-	1	468	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	73																	CTCCTCCGAGGCCTCCACCTG	0.602																																						uc003gjo.3																			0											c.(217-219)gCc>gTc		Homo sapiens Morf4 family associated protein 1-like 1 (MRFAP1L1), mRNA.							136	120	125					4																	6711139		2203	4300	6503	SO:0001583	missense	114932							g.chr4:6711139G>A	AF258591	CCDS3392.1	4p16.1	2008-02-05			ENSG00000178988	ENSG00000178988			28796	protein-coding gene	gene with protein product						12477932	Standard	NM_203462		Approved	MGC9651	uc003gjo.3	Q96HT8	OTTHUMG00000125507	ENST00000320848.6:c.218C>T	4.37:g.6711139G>A	ENSP00000318154:p.Ala73Val		Somatic				MRFAP1L1_uc021xlc.1_Missense_Mutation_p.A73V	p.A73V	NM_203462	NP_982287	WXS	Illumina GAIIx	Phase_I	Q96HT8	MR1L1_HUMAN			0	468	-			73					B2R6R0|Q6NXT8|Q9P0J5	Missense_Mutation	SNP	ENST00000320848.6	37	c.218C>T	CCDS3392.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317269	0.40996	.	.	ENSG00000178988	ENST00000320848	.	.	.	2.57	1.71	0.24356	.	0.464806	0.13479	U	0.384841	T	0.31327	0.0793	L	0.29908	0.895	0.23271	N	0.998003	B	0.31209	0.313	B	0.35278	0.199	T	0.30001	-0.9993	9	0.87932	D	0	.	7.3635	0.26760	0.0:0.2724:0.7276:0.0	.	73	Q96HT8	MR1L1_HUMAN	V	73	.	ENSP00000318154:A73V	A	-	2	0	MRFAP1L1	6762040	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	2.662000	0.46766	0.626000	0.30322	-0.165000	0.13383	GCC		0.602	MRFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246834.1	NM_152301		6	162	0	0	0	1	0	6	162					A	6711139	G	A	6711139	3	1	323	1	0	0	0	0	1	0	0	0	9762	1203	42	2	169	2	MRFAP1L1	4	6711139	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		6711139	184443137	6	5581											
MAPK10	5602	broad.mit.edu	37	4	87028402	87028402	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr4:87028402G>C	ENST00000359221.3	-	5	866	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.L76V|MAPK10_ENST00000361569.2_Missense_Mutation_p.L114V|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.L114V|MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.L76V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CACTTCATGAGGACCAGCTCC	0.433																																						uc003hps.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(340-342)Ctc>Gtc		Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.							127	121	123					4																	87028402		2203	4300	6503	SO:0001583	missense	5602				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87028402G>C	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.340C>G	4.37:g.87028402G>C	ENSP00000352157:p.Leu114Val		Somatic				MAPK10_uc010ikg.3_Missense_Mutation_p.L76V|MAPK10_uc003hpr.3_Missense_Mutation_p.L76V|MAPK10_uc003hpt.3_Missense_Mutation_p.L114V|MAPK10_uc003hpu.3_Missense_Mutation_p.L114V|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	p.L114V	NM_138982	NP_620446	WXS	Illumina GAIIx	Phase_I	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	4	1026	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	114			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.340C>G	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.927042|4.927042	0.92389|0.92389	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000361569;ENST00000395166;ENST00000395161;ENST00000512017;ENST00000512564;ENST00000511167;ENST00000511328|ENST00000515400	T;T;T;T;T;T;T;T;T|.	0.64803|.	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12|.	5.9|5.9	5.9|5.9	0.94986|0.94986	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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|T	0.58566|0.58566	0.2131|0.2131	L|L	0.27975|0.27975	0.815|0.815	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.972|.	D;D;D|.	0.91635|.	0.999;0.999;0.91|.	T|T	0.50311|0.50311	-0.8843|-0.8843	10|5	0.87932|.	D|.	0|.	-13.8171|-13.8171	20.2787|20.2787	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	76;114;114|.	P53779-3;P53779-2;P53779|.	.;.;MK10_HUMAN|.	V|R	76;114;114;76;114;114;76;114;114|26	ENSP00000378598:L76V;ENSP00000352157:L114V;ENSP00000355297:L114V;ENSP00000378595:L76V;ENSP00000378590:L114V;ENSP00000424755:L114V;ENSP00000422985:L76V;ENSP00000422277:L114V;ENSP00000421762:L114V|.	ENSP00000309857:L114V|.	L|P	-|-	1|2	0|0	MAPK10|MAPK10	87247426|87247426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.433	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			3	75	0	0	0	1	0	3	75					C	87028402	G	C	87028402	3	2	323	1	0	0	0	0	1	0	0	0	9272	1000	35	4	1099	4	MAPK10	4	87028402	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	80317263	87028402	104125874	7	5582											
FAM153B	202134	broad.mit.edu	37	5	175530270	175530270	+	Missense_Mutation	SNP	C	C	A	rs367572504		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr5:175530270C>A	ENST00000253490.4	+	13	762	c.705C>A	c.(703-705)aaC>aaA	p.N235K	FAM153B_ENST00000515817.1_Missense_Mutation_p.N158K|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Missense_Mutation_p.N158K			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	235										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCAGTTACAACGGCGAGGAGG	0.448																																						uc003mdk.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16						c.(703-705)aaC>aaA		Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.							293	301	298					5																	175530270		2203	4300	6503	SO:0001583	missense	202134							g.chr5:175530270C>A	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.705C>A	5.37:g.175530270C>A	ENSP00000253490:p.Asn235Lys		Somatic				FAM153B_uc021yic.1_Intron	p.N235K	NM_001079529	NP_001072997	WXS	Illumina GAIIx	Phase_I	P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	12	762	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	235					A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37	c.705C>A		.	.	.	.	.	.	.	.	.	.	C	9.538	1.112649	0.20795	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.26	-1.25	0.09405	.	.	.	.	.	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.20384	0.029	T	0.20438	-1.0275	8	0.54805	T	0.06	.	3.5061	0.07691	0.0:0.396:0.3535:0.2505	.	235	P0C7A2	F153B_HUMAN	K	158;235	.	ENSP00000253490:N235K	N	+	3	2	FAM153B	175462876	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.805000	0.00758	-0.438000	0.07232	-1.250000	0.01514	AAC		0.448	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		58	271	0	0	0	1	0	58	271					A	175530270	C	A	175530270	3	1	323	1	0	0	0	0	1	0	0	0	5461	535	19	4	755	4	FAM153B	5	175530270	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		175530270	5384990	8	5583											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		39	56	0	0	0	1	0	39	56					T	140453136	A	T	140453136	3	4	323	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BQ-01B-11D-A202-08		140453136	18685527	9	5584											
ASB10	136371	broad.mit.edu	37	7	150878358	150878358	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr7:150878358C>T	ENST00000420175.2	-	3	796	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	ASB10_ENST00000434669.1_Missense_Mutation_p.V303I|ASB10_ENST00000422024.1_Missense_Mutation_p.V303I|ASB10_ENST00000377867.3_Missense_Mutation_p.V243I|ASB10_ENST00000275838.1_Missense_Mutation_p.V258I			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	258					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)		TGGCAGCGGACGTCACAGGCA	0.647																																						uc003wjm.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(772-774)Gtc>Atc		Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.							34	35	35					7																	150878358		2203	4296	6499	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878358C>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.772G>A	7.37:g.150878358C>T	ENSP00000391137:p.Val258Ile		Somatic				ASB10_uc003wjl.1_Missense_Mutation_p.V258I|ASB10_uc003wjn.1_Missense_Mutation_p.V243I	p.V258I	NM_001142459	NP_001135931	WXS	Illumina GAIIx	Phase_I	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1033	-			258					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.772G>A	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412622	0.04799	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.66460	-0.21;-0.16;-0.15;-0.18;-0.18	5.24	-7.91	0.01165	Ankyrin repeat-containing domain (3);	1.167680	0.06017	N	0.650686	T	0.44244	0.1284	N	0.05554	-0.025	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.10450	0.001;0.005;0.001	T	0.37596	-0.9699	10	0.37606	T	0.19	1.0133	14.6419	0.68732	0.0758:0.7497:0.0818:0.0927	.	243;258;303	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	I	258;243;303;303;258	ENSP00000275838:V258I;ENSP00000367098:V243I;ENSP00000401369:V303I;ENSP00000398247:V303I;ENSP00000391137:V258I	ENSP00000275838:V258I	V	-	1	0	ASB10	150509291	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.267000	0.08619	-1.837000	0.01189	-1.851000	0.00568	GTC		0.647	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		7	19	0	0	0	1	0	7	19					T	150878358	C	T	150878358	3	4	323	1	0	0	0	0	1	0	0	0	1014	536	19	1	643	1	ASB10	7	150878358	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	10425222	150878358	8260305	10	5585											
IL2RA	3559	broad.mit.edu	37	10	6061871	6061871	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:6061871C>T	ENST00000379959.3	-	5	790	c.617G>A	c.(616-618)cGt>cAt	p.R206H	IL2RA_ENST00000256876.6_Missense_Mutation_p.R197H|IL2RA_ENST00000379954.1_Missense_Mutation_p.R134H|SNORA14_ENST00000516113.1_RNA	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	206					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACTCTCAGGACGGCCTTCGGG	0.597																																						uc001iiz.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(616-618)cGt>cAt		Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						125	110	115					10																	6061871		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6061871C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.617G>A	10.37:g.6061871C>T	ENSP00000369293:p.Arg206His		Somatic				IL2RA_uc009xih.2_Missense_Mutation_p.R134H|IL2RA_uc001ija.1_Intron	p.R206H	NM_000417	NP_000408	WXS	Illumina GAIIx	Phase_I	P01589	IL2RA_HUMAN			4	836	-			206					Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.617G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072145	0.20147	.	.	ENSG00000134460	ENST00000379959;ENST00000379954;ENST00000256876	T;T;T	0.44482	1.51;0.92;1.51	3.59	-4.44	0.03557	.	2.559910	0.01159	N	0.006616	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.0	B;B	0.12156	0.007;0.0	T	0.09574	-1.0668	10	0.40728	T	0.16	-6.0987	3.5462	0.07829	0.1727:0.1546:0.521:0.1518	.	134;206	Q5W005;P01589	.;IL2RA_HUMAN	H	206;134;197	ENSP00000369293:R206H;ENSP00000369287:R134H;ENSP00000256876:R197H	ENSP00000256876:R197H	R	-	2	0	IL2RA	6101877	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.274000	0.08537	-0.962000	0.03604	-1.717000	0.00709	CGT		0.597	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		4	85	0	0	0	1	0	4	85					T	6061871	C	T	6061871	3	4	323	1	0	0	0	0	1	0	0	0	7686	536	19	1	217	1	IL2RA	10	6061871	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08		6061871	129472876	11	5586											
SVIL	6840	broad.mit.edu	37	10	29769508	29769508	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:29769508C>A	ENST00000355867.4	-	29	6087	c.5335G>T	c.(5335-5337)Gat>Tat	p.D1779Y	SVIL_ENST00000375398.2_Missense_Mutation_p.D1779Y|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375400.3_Missense_Mutation_p.D1353Y|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.D571Y|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D693Y	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1779					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACATAGGCATCCCCCTCATGG	0.557																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5335-5337)Gat>Tat		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							105	95	99					10																	29769508		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769508C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5335G>T	10.37:g.29769508C>A	ENSP00000348128:p.Asp1779Tyr		Somatic				LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.D693Y|SVIL_uc001iuu.1_Missense_Mutation_p.D1353Y|SVIL_uc009xlc.2_Missense_Mutation_p.D571Y	p.D1779Y	NM_021738	NP_068506	WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			28	6088	-		Breast(68;0.103)	1779					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5335G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581121	0.86748	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.91	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	H	0.95780	3.72	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;0.99;0.991;0.98	T	0.80214	-0.1475	10	0.87932	D	0	-28.0546	17.4706	0.87645	0.0:1.0:0.0:0.0	.	693;571;1353;1779	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	Y	1353;1779;1779;693;733;571	ENSP00000364549:D1353Y;ENSP00000364547:D1779Y;ENSP00000348128:D1779Y;ENSP00000445472:D693Y;ENSP00000440343:D571Y	ENSP00000348128:D1779Y	D	-	1	0	SVIL	29809514	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	7.559000	0.82265	2.337000	0.79520	0.561000	0.74099	GAT		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			29	46	0	0	0	1	0	29	46					A	29769508	C	A	29769508	3	1	323	1	0	0	0	0	1	0	0	0	15418	855	30	4	1349	4	SVIL	10	29769508	Missense_Mutation	SNP	C	TCGA-ET-A3BQ-01B-11D-A202-08	23707637	29769508	105765239	12	5587											
COMTD1	118881	broad.mit.edu	37	10	76994748	76994748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr10:76994748delG	ENST00000372538.3	-	5	532	c.450delC	c.(448-450)gccfs	p.A150fs	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	150						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCTCCGCCTCGGCCTGCGGAG	0.697																																					Colon(106;1192 2596 47278)	uc001jxb.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(448-450)gccfs		Homo sapiens catechol-O-methyltransferase domain containing 1 (COMTD1), mRNA.							10	8	9					10																	76994748		1912	3682	5594	SO:0001589	frameshift_variant	118881					integral to membrane	O-methyltransferase activity	g.chr10:76994748delG		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.450delC	10.37:g.76994748delG	ENSP00000361616:p.Ala150fs		Somatic					p.A150fs	NM_144589	NP_653190	WXS	Illumina GAIIx	Phase_I	Q86VU5	CMTD1_HUMAN			4	534	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		150					Q8TE79	Frame_Shift_Del	DEL	ENST00000372538.3	37	c.450delC	CCDS7349.1																																																																																				0.697	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1	NM_144589		2	4						2	4	---	---	---	---	-	76994748	G	-	76994748	7	5	323	1	0	1	0	1	0	0	0	0	3726	1103	39	0	350	0	COMTD1	10	76994748	Frame_Shift_Del	DEL	G	TCGA-ET-A3BQ-01B-11D-A202-08	47225240	76994748	58539999	13	5588											
FLJ10357	55701	broad.mit.edu	37	14	21542856	21542856	+	Missense_Mutation	SNP	G	G	A	rs371889536		TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr14:21542856G>A	ENST00000298694.4	+	3	1094	c.967G>A	c.(967-969)Gag>Aag	p.E323K	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E323K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	323	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCCAGGAGCTGAGGCTGTCCC	0.692																																						uc001vzp.3																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(967-969)Gag>Aag		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.							13	15	14					14																	21542856		2190	4285	6475	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542856G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.967G>A	14.37:g.21542856G>A	ENSP00000298694:p.Glu323Lys		Somatic				ARHGEF40_uc001vzn.1_Missense_Mutation_p.E323K|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	p.E323K	NM_018071	NP_060541	WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			2	996	+			323			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.967G>A	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475813	0.44044	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	T;T	0.02369	4.38;4.32	5.12	4.23	0.50019	.	0.000000	0.48767	D	0.000168	T	0.04907	0.0132	L	0.27053	0.805	0.09310	N	0.999992	P;D	0.54964	0.634;0.969	B;P	0.56278	0.168;0.795	T	0.35699	-0.9778	10	0.45353	T	0.12	.	8.5756	0.33597	0.1023:0.0:0.8977:0.0	.	323;323	Q8TER5;G3V3N2	ARH40_HUMAN;.	K	323	ENSP00000298694:E323K;ENSP00000298693:E323K	ENSP00000298693:E323K	E	+	1	0	ARHGEF40	20612696	0.116000	0.22171	0.987000	0.45799	0.420000	0.31355	3.116000	0.50399	2.395000	0.81488	0.561000	0.74099	GAG		0.692	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			4	10	0	0	0	1	0	4	10					A	21542856	G	A	21542856	3	1	323	1	0	0	0	0	1	0	0	0	5926	1291	45	2	977	2	FLJ10357	14	21542856	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		21542856	85806684	14	5589											
B3GNTL1	146712	broad.mit.edu	37	17	80923589	80923589	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chr17:80923589G>C	ENST00000320865.3	-	7	551	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_Missense_Mutation_p.P69A	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	180							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACCAGGTGGGCATGATCACC	0.552																																						uc002kgg.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(538-540)Ccc>Gcc		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.							66	58	60					17																	80923589		2203	4300	6503	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:80923589G>C	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.538C>G	17.37:g.80923589G>C	ENSP00000319979:p.Pro180Ala		Somatic				B3GNTL1_uc002kgf.1_Missense_Mutation_p.P69A|B3GNTL1_uc002kge.1_Non-coding_Transcript	p.P180A	NM_001009905	NP_001009905	WXS	Illumina GAIIx	Phase_I	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		6	552	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	180					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.538C>G	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128925	0.77549	.	.	ENSG00000175711	ENST00000320865	T	0.61040	0.14	4.83	4.83	0.62350	Glycosyl transferase, family 2 (1);	0.060319	0.64402	D	0.000002	T	0.77432	0.4129	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79811	-0.1646	9	.	.	.	-23.0224	15.7877	0.78319	0.0:0.0:1.0:0.0	.	180	Q67FW5	B3GNL_HUMAN	A	180	ENSP00000319979:P180A	.	P	-	1	0	B3GNTL1	78516878	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.646000	0.83445	2.428000	0.82296	0.462000	0.41574	CCC		0.552	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		10	12	0	0	0	1	0	10	12					C	80923589	G	C	80923589	3	2	323	1	0	0	0	0	1	0	0	0	1265	1203	42	4	571	4	B3GNTL1	17	80923589	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		80923589	271621	15	5590											
ARMCX1	51309	broad.mit.edu	37	X	100808364	100808364	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:100808364G>A	ENST00000372829.3	+	4	822	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	151						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						CAGGGGTGGAGGCTGCCACCC	0.617																																						uc004ehv.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.(451-453)Ggc>Agc		Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.							53	53	53					X																	100808364		2202	4299	6501	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100808364G>A	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.451G>A	X.37:g.100808364G>A	ENSP00000361917:p.Gly151Ser		Somatic				ARMCX1_uc004ehw.3_Missense_Mutation_p.G151S|ARMCX1_uc022cak.1_Missense_Mutation_p.G151S	p.G151S	NM_016608	NP_057692	WXS	Illumina GAIIx	Phase_I	Q9P291	ARMX1_HUMAN			3	822	+			151					Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.451G>A	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	16.00	2.998410	0.54147	.	.	ENSG00000126947	ENST00000372829	T	0.38240	1.15	3.86	2.08	0.27032	.	0.654108	0.13245	N	0.402557	T	0.19967	0.0480	N	0.24115	0.695	0.29020	N	0.886337	B	0.24882	0.113	B	0.20577	0.03	T	0.21449	-1.0245	10	0.21540	T	0.41	-1.4967	5.1178	0.14845	0.2772:0.0:0.7228:0.0	.	151	Q9P291	ARMX1_HUMAN	S	151	ENSP00000361917:G151S	ENSP00000361917:G151S	G	+	1	0	ARMCX1	100695020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.493000	0.35605	0.419000	0.25927	0.556000	0.70494	GGC		0.617	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		4	141	0	0	0	1	0	4	141					A	100808364	G	A	100808364	3	1	323	1	0	0	0	0	1	0	0	0	959	1000	35	2	453	2	ARMCX1	23	100808364	Missense_Mutation	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08		100808364	54462196	16	5591											
FLNA	2316	broad.mit.edu	37	X	153585851	153585851	+	Silent	SNP	G	G	A			TCGA-ET-A3BQ-01B-11D-A202-08	TCGA-ET-A3BQ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7a5a3f-8a69-4a00-b546-54b01a0a6cb4	ed9c6a96-923e-4d15-a6a8-5579a37b2a75	g.chrX:153585851G>A	ENST00000369850.3	-	29	5132	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	FLNA_ENST00000360319.4_Silent_p.Y1632Y|FLNA_ENST00000422373.1_Silent_p.Y1632Y|FLNA_ENST00000344736.4_Silent_p.Y1632Y|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1632					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CACGCACGCGGTACGGGGAGA	0.657																																						uc004fkk.2																			0				breast(6)	6						c.(4894-4896)taC>taT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							109	103	105					X																	153585851		2159	4231	6390	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding	g.chrX:153585851G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4896C>T	X.37:g.153585851G>A			Somatic				FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Silent_p.Y1632Y	p.Y1632Y	NM_001110556	NP_001104026	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			28	5145	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		1632					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4896C>T	CCDS48194.1																																																																																				0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	43	0	0	0	1	0	3	43					A	153585851	G	A	153585851	2	1	323	1	0	0	0	0	0	0	0	1	5933	1256	44	2		2	FLNA	23	153585851	Silent	SNP	G	TCGA-ET-A3BQ-01B-11D-A202-08	52777487	153585851	1684709	17	5592											
MAST2	23139	broad.mit.edu	37	1	46501483	46501483	+	Silent	SNP	C	C	T			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr1:46501483C>T	ENST00000361297.2	+	29	5425	c.5142C>T	c.(5140-5142)gcC>gcT	p.A1714A	MAST2_ENST00000372009.2_Silent_p.A1524A	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGACTGGCCCATCCATCTT	0.577																																						uc001cov.3																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(5140-5142)gcC>gcT		Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.							57	65	63					1																	46501483		1966	4150	6116	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46501483C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.5142C>T	1.37:g.46501483C>T			Somatic				MAST2_uc001cow.3_Silent_p.A1713A|MAST2_uc001cpa.3_Non-coding_Transcript	p.A1714A	NM_015112	NP_055927	WXS	Illumina GAIIx	Phase_I	Q6P0Q8	MAST2_HUMAN			28	5425	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1714						Silent	SNP	ENST00000361297.2	37	c.5142C>T	CCDS41326.1																																																																																				0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	85	0	0	0	1	0	4	85					T	46501483	C	T	46501483	2	4	324	1	0	0	0	0	0	0	0	1	9325	610	22	2		2	MAST2	1	46501483	Silent	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		46501483	202749138	1	5593											
RGS21	431704	broad.mit.edu	37	1	192321267	192321267	+	Missense_Mutation	SNP	C	C	T	rs369430749		TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr1:192321267C>T	ENST00000417209.2	+	4	353	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	60	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTAAGAAAACGAAAAATGCA	0.348													C|||	1	0.000199681	8e-04	0	5008	,	,		16349	0		0	False		,,,				2504	0					uc001gsh.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						c.(178-180)aCg>aTg		Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.		C	MET/THR	0,3690		0,0,1845	67	64	65		179	5.8	1.0	1		65	1,8223		0,1,4111	no	missense	RGS21	NM_001039152.3	81	0,1,5956	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	60/153	192321267	1,11913	1845	4112	5957	SO:0001583	missense	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192321267C>T	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"Regulators of G-protein signaling"	26839	protein-coding gene	gene with protein product		612407	"regulator of G-protein signalling 21"			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.179C>T	1.37:g.192321267C>T	ENSP00000428343:p.Thr60Met		Somatic					p.T60M	NM_001039152	NP_001034241	WXS	Illumina GAIIx	Phase_I	Q2M5E4	RGS21_HUMAN			3	353	+			60			RGS.			Missense_Mutation	SNP	ENST00000417209.2	37	c.179C>T	CCDS41448.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288527	0.59976	0.0	1.22E-4	ENSG00000253148	ENST00000417209	T	0.29655	1.56	5.77	5.77	0.91146	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.34828	U	0.003657	T	0.49064	0.1535	L	0.46885	1.475	0.34163	D	0.668843	D	0.69078	0.997	D	0.63793	0.918	T	0.57734	-0.7760	10	0.62326	D	0.03	.	18.5418	0.91031	0.0:1.0:0.0:0.0	.	60	Q2M5E4	RGS21_HUMAN	M	60	ENSP00000428343:T60M	ENSP00000428343:T60M	T	+	2	0	RGS21	190587890	1.000000	0.71417	0.994000	0.49952	0.670000	0.39368	2.937000	0.48979	2.733000	0.93635	0.557000	0.71058	ACG		0.348	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			3	16	0	0	0	1	0	3	16					T	192321267	C	T	192321267	3	4	324	1	0	0	0	0	1	0	0	0	13304	536	19	1	189	1	RGS21	1	192321267	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08	145819784	192321267	56929354	2	5594											
NPAS2	4862	broad.mit.edu	37	2	101598737	101598737	+	Silent	SNP	A	A	G			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr2:101598737A>G	ENST00000335681.5	+	16	1812	c.1527A>G	c.(1525-1527)ctA>ctG	p.L509L	NPAS2_ENST00000542504.1_Silent_p.L574L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	509					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						AAGACCAGCTAGAGCAGCGGA	0.527																																						uc010yvt.1																			0		p.A573A(1)		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.(1720-1722)ctA>ctG		Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.							83	76	78					2																	101598737		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:101598737A>G	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1527A>G	2.37:g.101598737A>G			Somatic				NPAS2_uc002tap.1_Silent_p.L509L|NPAS2_uc010fit.1_Silent_p.L87L	p.L574L	NM_002518	NP_002509	WXS	Illumina GAIIx	Phase_I	Q99743	NPAS2_HUMAN			15	1724	+			509					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1722A>G	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.476941	0.26511	.	.	ENSG00000170485	ENST00000433408	.	.	.	5.56	2.65	0.31530	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32428	-0.9907	4	.	.	.	.	2.6869	0.05110	0.27:0.1127:0.5018:0.1154	.	.	.	.	G	8	.	.	R	+	1	2	NPAS2	100965169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.938000	0.28965	0.703000	0.31848	-0.177000	0.13119	AGA		0.527	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			4	55	0	0	0	1	0	4	55					G	101598737	A	G	101598737	2	3	324	1	0	0	0	0	0	0	0	1	10563	407	15	3		3	NPAS2	2	101598737	Silent	SNP	A	TCGA-ET-A3BS-01A-11D-A202-08		101598737	141600636	3	5595											
CDH12	1010	broad.mit.edu	37	5	22078769	22078769	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr5:22078769C>G	ENST00000382254.1	-	5	1103	c.17G>C	c.(16-18)tGt>tCt	p.C6S	CDH12_ENST00000504376.2_Missense_Mutation_p.C6S|CDH12_ENST00000522262.1_Missense_Mutation_p.C6S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	6					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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGGGATAAACAGTTCCTTGT	0.448										HNSCC(59;0.17)																												uc010iuc.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(16-18)tGt>tCt		Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.							125	130	128					5																	22078769		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078769C>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.17G>C	5.37:g.22078769C>G	ENSP00000371689:p.Cys6Ser	HNSCC(59;0.17)	Somatic				CDH12_uc011cno.1_Missense_Mutation_p.C6S|CDH12_uc003jgk.2_Missense_Mutation_p.C6S	p.C6S	NM_004061	NP_004052	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			1	475	-			6					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.17G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595277	0.46318	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.56611	0.58;0.58;0.45	5.53	3.72	0.42706	.	0.488476	0.25135	N	0.032866	T	0.31827	0.0809	N	0.08118	0	0.36079	D	0.842668	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21381	-1.0247	10	0.51188	T	0.08	.	10.9808	0.47492	0.1339:0.5929:0.2733:0.0	.	6;6	B7Z2U6;P55289	.;CAD12_HUMAN	S	6	ENSP00000423577:C6S;ENSP00000371689:C6S;ENSP00000428786:C6S	ENSP00000371689:C6S	C	-	2	0	CDH12	22114526	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	3.648000	0.54410	0.689000	0.31550	-0.233000	0.12211	TGT		0.448	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		29	55	0	0	0	1	0	29	55					G	22078769	C	G	22078769	3	3	324	1	0	0	0	0	1	0	0	0	3098	478	17	4	2411	4	CDH12	5	22078769	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		22078769	158836491	4	5596											
LIFR	3977	broad.mit.edu	37	5	38511959	38511959	+	Silent	SNP	G	G	A			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr5:38511959G>A	ENST00000263409.4	-	6	831	c.669C>T	c.(667-669)taC>taT	p.Y223Y	LIFR_ENST00000453190.2_Silent_p.Y223Y|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	223					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)			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)					GATTGTCAATGTAGCATCTAA	0.393			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				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.(667-669)taC>taT		Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.							93	79	84					5																	38511959		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.chr5:38511959G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.669C>T	5.37:g.38511959G>A			Somatic				LIFR_uc003jli.2_Silent_p.Y223Y	p.Y223Y	NM_001127671	NP_002301	WXS	Illumina GAIIx	Phase_I	P42702	LIFR_HUMAN			5	1001	-	all_lung(31;0.00021)		223					Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.669C>T	CCDS3927.1																																																																																				0.393	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		12	29	0	0	0	1	0	12	29					A	38511959	G	A	38511959	2	1	324	1	0	0	0	0	0	0	0	1	8780	1372	48	2		2	LIFR	5	38511959	Silent	SNP	G	TCGA-ET-A3BS-01A-11D-A202-08	16433190	38511959	142403301	5	5597											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	40	0	0	0	1	0	14	40					T	140453136	A	T	140453136	3	4	324	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BS-01A-11D-A202-08		140453136	18685527	6	5598											
LPL	4023	broad.mit.edu	37	8	19811648	19811648	+	Missense_Mutation	SNP	C	C	T	rs200669137		TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr8:19811648C>T	ENST00000311322.8	+	5	1029	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	187					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TCCAGCTGGACCTAACTTTGA	0.453																																						uc003wzk.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(559-561)Cct>Tct		Homo sapiens lipoprotein lipase (LPL), mRNA.	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						111	105	107					8																	19811648		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811648C>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.559C>T	8.37:g.19811648C>T	ENSP00000309757:p.Pro187Ser		Somatic					p.P187S	NM_000237	NP_000228	WXS	Illumina GAIIx	Phase_I	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	929	+			187					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.559C>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704181	0.88924	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.92149	-2.98;-2.98	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.089217	0.85682	D	0.000000	D	0.97275	0.9109	M	0.94021	3.485	0.40553	D	0.981137	D	0.89917	1.0	D	0.97110	1.0	D	0.97596	1.0120	8	.	.	.	-22.4702	18.3732	0.90420	0.0:1.0:0.0:0.0	.	187	P06858	LIPL_HUMAN	S	111;187;111;173	ENSP00000428496:P111S;ENSP00000309757:P187S	.	P	+	1	0	LPL	19855928	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.699000	0.68310	2.941000	0.99782	0.655000	0.94253	CCT		0.453	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			27	50	0	0	0	1	0	27	50					T	19811648	C	T	19811648	3	4	324	1	0	0	0	0	1	0	0	0	8921	507	18	2	577	2	LPL	8	19811648	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		19811648	126552374	7	5599											
EXPH5	23086	broad.mit.edu	37	11	108384325	108384325	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr11:108384325C>T	ENST00000265843.4	-	6	2019	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.D561N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D630N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D449N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	637					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCTTCTGTCATCAGAAATC	0.408																																						uc001pkk.3																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(1909-1911)Gac>Aac		Homo sapiens exophilin 5 (EXPH5), mRNA.							98	101	100					11																	108384325		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384325C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1909G>A	11.37:g.108384325C>T	ENSP00000265843:p.Asp637Asn		Somatic				EXPH5_uc010rvz.2_Missense_Mutation_p.D481N|EXPH5_uc010rvy.2_Missense_Mutation_p.D449N	p.D637N	NM_015065	NP_055880	WXS	Illumina GAIIx	Phase_I	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	5	2020	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	637					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1909G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461079	0.43736	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04970	4.22;4.15;4.0;4.22;4.06;3.52	6.03	2.63	0.31362	.	0.874697	0.10070	N	0.719837	T	0.15176	0.0366	M	0.67953	2.075	0.09310	N	1	D	0.63880	0.993	P	0.54140	0.743	T	0.13019	-1.0525	10	0.54805	T	0.06	-0.3658	8.3452	0.32268	0.0:0.7118:0.0:0.2882	.	637	Q8NEV8	EXPH5_HUMAN	N	637;561;449;630;481;561;449	ENSP00000265843:D637N;ENSP00000391966:D561N;ENSP00000411390:D449N;ENSP00000432546:D630N;ENSP00000432683:D561N;ENSP00000446434:D449N	ENSP00000265843:D637N	D	-	1	0	EXPH5	107889535	0.024000	0.19004	0.215000	0.23724	0.022000	0.10575	0.549000	0.23329	0.832000	0.34804	0.557000	0.71058	GAC		0.408	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		10	91	0	0	0	1	0	10	91					T	108384325	C	T	108384325	3	4	324	1	0	0	0	0	1	0	0	0	5322	826	29	2	4064	2	EXPH5	11	108384325	Missense_Mutation	SNP	C	TCGA-ET-A3BS-01A-11D-A202-08		108384325	26622191	8	5600											
SLC25A3	5250	broad.mit.edu	37	12	98991696	98991696	+	Silent	SNP	T	T	G			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr12:98991696T>G	ENST00000228318.3	+	4	465	c.345T>G	c.(343-345)ggT>ggG	p.G115G	SLC25A3_ENST00000548847.1_Silent_p.G114G|SLC25A3_ENST00000547534.1_Silent_p.G114G|SLC25A3_ENST00000552981.1_Silent_p.G114G|SLC25A3_ENST00000401722.3_Silent_p.G114G|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Silent_p.G114G|SLC25A3_ENST00000549338.1_Silent_p.G114G|SLC25A3_ENST00000551917.1_Silent_p.G115G	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	115					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AAGAGGATGGTGTTCGTGGTT	0.393																																						uc001tfo.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(343-345)ggT>ggG		Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							162	148	153					12																	98991696		2203	4300	6503	SO:0001819	synonymous_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98991696T>G		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"Solute carriers"	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.345T>G	12.37:g.98991696T>G			Somatic				SLC25A3_uc001tfm.3_Silent_p.G114G|SLC25A3_uc001tfn.3_Silent_p.G114G|SLC25A3_uc001tfp.3_Silent_p.G114G|SLC25A3_uc001tfq.3_5'UTR|SLC25A3_uc001tfr.3_Silent_p.G115G|SLC25A3_uc001tfs.3_Silent_p.G71G|SNORA53_uc001tfu.1_5'Flank	p.G115G	NM_005888	NP_005879	WXS	Illumina GAIIx	Phase_I	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	3	465	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	115					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.345T>G	CCDS9066.1																																																																																				0.393	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		27	51	0	0	0	1	0	27	51					G	98991696	T	G	98991696	2	3	324	1	0	0	0	0	0	0	0	1	14493	1683	59	5		5	SLC25A3	12	98991696	Silent	SNP	T	TCGA-ET-A3BS-01A-11D-A202-08		98991696	34860199	9	5601											
MUC16	94025	broad.mit.edu	37	19	8962361	8962361	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr19:8962361delC	ENST00000397910.4	-	82	43541	c.43338delG	c.(43336-43338)gggfs	p.G14446fs	MUC16_ENST00000380951.5_Frame_Shift_Del_p.G1087fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22091	SEA 16. {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						TACCAGAATTCCCAGTTAAGG	0.478																																						uc002mkp.3																			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.(43336-43338)gggfs		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							26	27	27					19																	8962361		1793	3965	5758	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8962361delC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43338delG	19.37:g.8962361delC	ENSP00000381008:p.Gly14446fs		Somatic				MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Frame_Shift_Del_p.G1246fs|MUC16_uc021uog.1_Non-coding_Transcript	p.G14446fs	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			81	43542	-			13920	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.43338delG	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		2	4						2	4	---	---	---	---	-	8962361	C	-	8962361	7	5	324	1	0	1	0	1	0	0	0	0	9973	842	30	0	197	0	MUC16	19	8962361	Frame_Shift_Del	DEL	C	TCGA-ET-A3BS-01A-11D-A202-08		8962361	50166622	10	5602											
CEACAM5	1048	broad.mit.edu	37	19	42213808	42213808	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3BS-01A-11D-A202-08	TCGA-ET-A3BS-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f353a576-14db-4817-9ac8-64d6328adab8	6d88ce09-4e88-4449-a114-ad99a7f5f873	g.chr19:42213808G>C	ENST00000221992.6	+	2	388	c.274G>C	c.(274-276)Ggg>Cgg	p.G92R	CEACAM5_ENST00000398599.4_Missense_Mutation_p.G92R|CEA_ENST00000598976.1_Missense_Mutation_p.G92R|CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G92R	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	92	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGCTACCCCAGGGCCCGCATA	0.473																																						uc002orl.3																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(274-276)Ggg>Cgg		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.							193	199	197					19																	42213808		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213808G>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.274G>C	19.37:g.42213808G>C	ENSP00000221992:p.Gly92Arg		Somatic				CEACAM5_uc010ehz.1_Missense_Mutation_p.G92R|CEACAM5_uc002orj.1_Missense_Mutation_p.G92R	p.G92R	NM_004363	NP_004354	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	1	395	+			92			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.274G>C	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.63|12.63	1.994462|1.994462	0.35226|0.35226	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.67698|.	-0.28;-0.28|.	2.56|2.56	1.49|1.49	0.22878|0.22878	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.73063|0.73063	0.3539|0.3539	H|H	0.95917|0.95917	3.74|3.74	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.63409|0.63409	-0.6644|-0.6644	9|5	0.87932|.	D|.	0|.	.|.	6.5806|6.5806	0.22591|0.22591	0.0:0.0:0.7141:0.2859|0.0:0.0:0.7141:0.2859	.|.	92;92;92|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	R|T	92|88	ENSP00000221992:G92R;ENSP00000385072:G92R|.	ENSP00000221992:G92R|.	G|R	+|+	1|2	0|0	CEACAM5|CEACAM5	46905648|46905648	0.089000|0.089000	0.21612|0.21612	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	1.563000|1.563000	0.36364|0.36364	0.628000|0.628000	0.30357|0.30357	0.305000|0.305000	0.20034|0.20034	GGG|AGG		0.473	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		6	223	0	0	0	1	0	6	223					C	42213808	G	C	42213808	3	2	324	1	0	0	0	0	1	0	0	0	3195	1000	35	4	280	4	CEACAM5	19	42213808	Missense_Mutation	SNP	G	TCGA-ET-A3BS-01A-11D-A202-08	33251447	42213808	16915175	11	5603											
TMEM53	79639	broad.mit.edu	37	1	45120353	45120353	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:45120353G>A	ENST00000372237.3	-	3	875	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R208C|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	238						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGGACCCGGCGTGCCAGGCGT	0.602																																						uc001cmc.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(712-714)Cgc>Tgc		Homo sapiens transmembrane protein 53 (TMEM53), mRNA.							95	106	102					1																	45120353		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120353G>A		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.712C>T	1.37:g.45120353G>A	ENSP00000361311:p.Arg238Cys		Somatic				TMEM53_uc001cmd.3_Missense_Mutation_p.R165C|TMEM53_uc009vxh.1_Missense_Mutation_p.R121C|TMEM53_uc010ola.1_Missense_Mutation_p.R121C	p.R238C	NM_024587	NP_078863	WXS	Illumina GAIIx	Phase_I	Q6P2H8	TMM53_HUMAN			2	748	-	Acute lymphoblastic leukemia(166;0.155)		238					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.712C>T	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171698	0.38315	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.54	5.54	0.83059	.	0.486297	0.24793	N	0.035551	T	0.56920	0.2018	L	0.38838	1.175	0.50632	D	0.999881	B	0.17852	0.024	B	0.12156	0.007	T	0.52305	-0.8593	9	0.52906	T	0.07	.	19.4772	0.94994	0.0:0.0:1.0:0.0	.	238	Q6P2H8	TMM53_HUMAN	C	238;208	.	ENSP00000361309:R208C	R	-	1	0	TMEM53	44892940	1.000000	0.71417	0.870000	0.34147	0.473000	0.32948	6.039000	0.70972	2.602000	0.87976	0.563000	0.77884	CGC		0.602	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		31	48	0	0	0	1	0	31	48					A	45120353	G	A	45120353	3	1	325	1	0	0	0	0	1	0	0	0	16176	1145	40	1	125	1	TMEM53	1	45120353	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		45120353	204130268	1	5604											
OR2T4	127074	broad.mit.edu	37	1	248525828	248525828	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr1:248525828G>T	ENST00000366475.1	+	1	946	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	316						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(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCACTCCAGTGGTGAACCC	0.463																																						uc001ieh.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(946-948)Gtg>Ttg		Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.							149	146	147					1																	248525828		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525828G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.946G>T	1.37:g.248525828G>T	ENSP00000355431:p.Val316Leu		Somatic					p.V316L	NM_001004696	NP_001004696	WXS	Illumina GAIIx	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	946	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		316					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.946G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094662	0.01858	.	.	ENSG00000196944	ENST00000366475	T	0.36699	1.24	3.0	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.173086	0.27442	N	0.019346	T	0.12178	0.0296	N	0.03324	-0.35	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.11941	-1.0567	10	0.23302	T	0.38	.	2.6383	0.04964	0.2801:0.0:0.4854:0.2345	.	316	Q8NH00	OR2T4_HUMAN	L	316	ENSP00000355431:V316L	ENSP00000355431:V316L	V	+	1	0	OR2T4	246592451	0.000000	0.05858	0.988000	0.46212	0.052000	0.14988	-1.318000	0.02705	1.498000	0.48600	0.585000	0.79938	GTG		0.463	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		73	100	0	0	0	1	0	73	100					T	248525828	G	T	248525828	3	4	325	1	0	0	0	0	1	0	0	0	11027	1029	36	4	948	4	OR2T4	1	248525828	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	203405475	248525828	724793	2	5605											
RNF7	9616	broad.mit.edu	37	3	141462360	141462360	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:141462360T>G	ENST00000273480.3	+	2	323	c.185T>G	c.(184-186)cTt>cGt	p.L62R	RNF7_ENST00000480908.1_Intron|RNF7_ENST00000393000.3_Missense_Mutation_p.L60V	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	62					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						GATGCCTGTCTTAGATGTCAA	0.358																																						uc003eud.3																			0		p.L62V(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(184-186)cTt>cGt		Homo sapiens ring finger protein 7 (RNF7), transcript variant 1, mRNA.							254	243	247					3																	141462360		2203	4300	6503	SO:0001583	missense	9616				anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	NEDD8 ligase activity|copper ion binding|protein binding|zinc ion binding	g.chr3:141462360T>G	AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"RING-type (C3HC4) zinc fingers"	10070	protein-coding gene	gene with protein product	"sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.185T>G	3.37:g.141462360T>G	ENSP00000273480:p.Leu62Arg		Somatic				RNF7_uc021xet.1_Non-coding_Transcript|RNF7_uc003eue.3_Non-coding_Transcript|RNF7_uc003euc.3_Missense_Mutation_p.L60V|RNF7_uc021xeu.1_Intron	p.L62R	NM_014245	NP_055060	WXS	Illumina GAIIx	Phase_I	Q9UBF6	RBX2_HUMAN			1	318	+			62					A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Missense_Mutation	SNP	ENST00000273480.3	37	c.185T>G	CCDS3118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.09|17.09	3.299787|3.299787	0.60195|0.60195	.|.	.|.	ENSG00000114125|ENSG00000114125	ENST00000273480|ENST00000393000	T|.	0.46063|.	0.88|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.42200|0.42200	0.1192|0.1192	.|.	.|.	.|.	0.22947|0.22947	N|N	0.998528|0.998528	D|B	0.89917|0.22683	1.0|0.073	D|B	0.78314|0.24394	0.991|0.053	T|T	0.35847|0.35847	-0.9772|-0.9772	9|8	0.87932|0.45353	D|T	0|0.12	.|.	16.3782|16.3782	0.83418|0.83418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	62|60	Q9UBF6|Q9UBF6-3	RBX2_HUMAN|.	R|V	62|60	ENSP00000273480:L62R|.	ENSP00000273480:L62R|ENSP00000376725:L60V	L|L	+|+	2|1	0|2	RNF7|RNF7	142945050|142945050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.804000|6.804000	0.75186|0.75186	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	CTT|TTA		0.358	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280602.1	NM_014245		23	54	0	0	0	1	0	23	54					G	141462360	T	G	141462360	3	3	325	1	0	0	0	0	1	0	0	0	13499	1609	56	5	191	5	RNF7	3	141462360	Missense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08		141462360	56560070	3	5606											
XRN1	54464	broad.mit.edu	37	3	142031581	142031581	+	Silent	SNP	C	C	T	rs534878384		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr3:142031581C>T	ENST00000264951.4	-	41	4794	c.4677G>A	c.(4675-4677)tcG>tcA	p.S1559S	XRN1_ENST00000392981.2_Silent_p.S1547S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1559					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)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGAGATGAGACGACGAAGGCA	0.443													C|||	1	0.000199681	0	0.0014	5008	,	,		15030	0		0	False		,,,				2504	0					uc003eus.3																			0		p.S1558L(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(4675-4677)tcG>tcA		Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.							118	122	121					3																	142031581		2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding	g.chr3:142031581C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4677G>A	3.37:g.142031581C>T			Somatic				XRN1_uc010huu.3_Silent_p.S1013S|XRN1_uc003eut.3_Silent_p.S1546S|XRN1_uc003euu.3_Silent_p.S1547S	p.S1559S	NM_019001	NP_061874	WXS	Illumina GAIIx	Phase_I	Q8IZH2	XRN1_HUMAN			40	4744	-			1559					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.4677G>A	CCDS3123.1																																																																																				0.443	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	120	0	0	0	1	0	5	120					T	142031581	C	T	142031581	2	4	325	1	0	0	0	0	0	0	0	1	17456	523	19	1		1	XRN1	3	142031581	Silent	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	569221	142031581	55990849	4	5607											
TTK	7272	broad.mit.edu	37	6	80715612	80715612	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr6:80715612A>G	ENST00000369798.2	+	2	163	c.52A>G	c.(52-54)Aac>Gac	p.N18D	TTK_ENST00000230510.3_Missense_Mutation_p.N18D|TTK_ENST00000509894.1_Missense_Mutation_p.N18D	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	18					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTCCATAATGAACAAAGTGAG	0.313																																						uc003pjc.3																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(52-54)Aac>Gac		Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.							81	86	85					6																	80715612		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80715612A>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.52A>G	6.37:g.80715612A>G	ENSP00000358813:p.Asn18Asp		Somatic				TTK_uc003pjb.4_Missense_Mutation_p.N18D	p.N18D	NM_003318	NP_003309	WXS	Illumina GAIIx	Phase_I	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	1	163	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	18					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.52A>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801807	0.31869	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.84	4.84	0.62591	.	0.272821	0.42053	D	0.000780	T	0.68577	0.3016	L	0.34521	1.04	0.23325	N	0.997908	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.55617	-0.8113	10	0.24483	T	0.36	.	8.357	0.32335	0.9121:0.0:0.0879:0.0	.	18;18	P33981;A8K8U5	TTK_HUMAN;.	D	18	ENSP00000422936:N18D;ENSP00000230510:N18D;ENSP00000358813:N18D;ENSP00000424851:N18D;ENSP00000421636:N18D;ENSP00000427483:N18D	ENSP00000230510:N18D	N	+	1	0	TTK	80772331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.701000	0.54793	1.817000	0.53016	0.379000	0.24179	AAC		0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			7	56	0	0	0	1	0	7	56					G	80715612	A	G	80715612	3	3	325	1	0	0	0	0	1	0	0	0	16717	246	9	3	54	3	TTK	6	80715612	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		80715612	90399455	5	5608											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	27	0	0	0	1	0	24	27					T	140453136	A	T	140453136	3	4	325	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		140453136	18685527	6	5609											
PTPRD	5789	broad.mit.edu	37	9	8454579	8454579	+	Intron	SNP	C	C	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr9:8454579C>A	ENST00000381196.4	-	31	4419				PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						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)		CTATTCCTCACCTGTCGGGTT	0.408										TSP Lung(15;0.13)																												uc003zkp.3																			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.e18+1		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 3, mRNA.							89	82	84					9																	8454579		1822	4081	5903	SO:0001627	intron_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8454579C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3876-4742G>T	9.37:g.8454579C>A		TSP Lung(15;0.13)	Somatic				PTPRD_uc003zkq.3_Splice_Site_p.R885_splice|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Splice_Site_p.R882_splice|PTPRD_uc003zkk.3_Intron	p.R886_splice	NM_130392	NP_569076	WXS	Illumina GAIIx	Phase_I	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)	18	2760	-		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)	1292			Fibronectin type-III 6.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37	c.2657_splice	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514225	0.85389	.	.	ENSG00000153707	ENST00000355233;ENST00000397611;ENST00000486161	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0886	0.93217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8444579	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.435000	0.80391	2.517000	0.84864	0.591000	0.81541	.		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	18	0	0	0	1	0	5	18					A	8454579	C	A	8454579	1	1	325	0	1	0	0	0	0	0	0	0	12799	521	18	4		4	PTPRD	9	8454579	Intron	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08		8454579	132758852	7	5610											
OR4C3	256144	broad.mit.edu	37	11	48347139	48347139	+	Missense_Mutation	SNP	A	A	G	rs386753296		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:48347139A>G	ENST00000319856.4	+	1	668	c.647A>G	c.(646-648)aAt>aGt	p.N216S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	189						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)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCTGCACCAATACGTATGTC	0.507																																						uc010rhv.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(646-648)aAt>aGt		Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.							224	164	184					11																	48347139		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347139A>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.647A>G	11.37:g.48347139A>G	ENSP00000321419:p.Asn216Ser		Somatic					p.N216S	NM_001004702	NP_001004702	WXS	Illumina GAIIx	Phase_I	Q8NH37	OR4C3_HUMAN			0	647	+			189					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.647A>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560907	0.27827	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00091	8.74	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.901795	0.09503	N	0.793384	T	0.00178	0.0005	L	0.28192	0.835	0.26075	N	0.981161	B	0.23058	0.079	B	0.32928	0.155	T	0.57112	-0.7867	10	0.87932	D	0	.	14.2031	0.65716	1.0:0.0:0.0:0.0	.	189	Q8NH37	OR4C3_HUMAN	S	216;79	ENSP00000321419:N216S	ENSP00000321419:N216S	N	+	2	0	OR4C3	48303715	0.405000	0.25336	0.742000	0.31022	0.051000	0.14879	5.005000	0.63972	2.245000	0.73994	0.391000	0.25812	AAT		0.507	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		10	37	0	0	0	1	0	10	37					G	48347139	A	G	48347139	3	3	325	1	0	0	0	0	1	0	0	0	11050	101	4	3	649	3	OR4C3	11	48347139	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08		48347139	86659377	8	5611											
OR4A5	81318	broad.mit.edu	37	11	51411842	51411842	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr11:51411842G>A	ENST00000319760.6	-	1	606	c.554C>T	c.(553-555)gCa>gTa	p.A185V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	185						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(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTCAGTGCATGCCAGTTCCAG	0.423																																						uc001nhi.2																			0		p.L184R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(553-555)gCa>gTa		Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.							64	56	59					11																	51411842		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411842G>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.554C>T	11.37:g.51411842G>A	ENSP00000367664:p.Ala185Val		Somatic					p.A185V	NM_001005272	NP_001005272	WXS	Illumina GAIIx	Phase_I	Q8NH83	OR4A5_HUMAN			0	607	-		all_lung(304;0.236)	185					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.554C>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	1.278	-0.611133	0.03690	.	.	ENSG00000221840	ENST00000319760	T	0.00183	8.6	1.93	-0.111	0.13576	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.00210	0.0006	L	0.61036	1.89	0.09310	N	1	B	0.18013	0.025	B	0.30782	0.12	T	0.36237	-0.9756	10	0.40728	T	0.16	.	5.9532	0.19259	0.3154:0.0:0.6846:0.0	.	185	Q8NH83	OR4A5_HUMAN	V	185	ENSP00000367664:A185V	ENSP00000367664:A185V	A	-	2	0	OR4A5	51268418	0.003000	0.15002	0.325000	0.25375	0.035000	0.12851	1.327000	0.33746	-0.017000	0.14103	0.162000	0.16502	GCA		0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		14	12	0	0	0	1	0	14	12					A	51411842	G	A	51411842	3	1	325	1	0	0	0	0	1	0	0	0	11043	1319	46	2	397	2	OR4A5	11	51411842	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	3064703	51411842	83594674	9	5612											
ZNF384	171017	broad.mit.edu	37	12	6781601	6781601	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:6781601G>A	ENST00000396801.3	-	8	1216	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.R337C|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000355772.4_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	337					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GAGTGGATACGGAGGTGCTGG	0.617			T	"EWSR1, TAF15 "	ALL																																	uc010sfh.2				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"EWSR1, TAF15 "		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1009-1011)Cgt>Tgt		Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.							82	81	81					12																	6781601		1568	3582	5150	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6781601G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1009C>T	12.37:g.6781601G>A	ENSP00000380019:p.Arg337Cys		Somatic				ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron	p.R337C	NM_001135734	NP_001129206	WXS	Illumina GAIIx	Phase_I	Q8TF68	ZN384_HUMAN			7	1279	-			337					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1009C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155156	0.78114	.	.	ENSG00000126746	ENST00000396801;ENST00000361959	T;T	0.02472	4.28;4.28	5.69	5.69	0.88448	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	0.20455	0.0492	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00619	-1.1641	10	0.87932	D	0	-8.9831	19.4149	0.94690	0.0:0.0:1.0:0.0	.	337	Q8TF68	ZN384_HUMAN	C	337	ENSP00000380019:R337C;ENSP00000354592:R337C	ENSP00000354592:R337C	R	-	1	0	ZNF384	6651862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.676000	0.91093	0.655000	0.94253	CGT		0.617	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			27	36	0	0	0	1	0	27	36					A	6781601	G	A	6781601	3	1	325	1	0	0	0	0	1	0	0	0	17872	1116	39	1	740	1	ZNF384	12	6781601	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		6781601	127070294	10	5613											
CCNT1	904	broad.mit.edu	37	12	49087741	49087741	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:49087741G>T	ENST00000261900.3	-	9	1478	c.1256C>A	c.(1255-1257)gCa>gAa	p.A419E		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	419					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGCAGCATATGCATATTGTGA	0.463																																						uc001rsd.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1255-1257)gCa>gAa		Homo sapiens cyclin T1 (CCNT1), mRNA.							150	156	154					12																	49087741		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087741G>T	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1256C>A	12.37:g.49087741G>T	ENSP00000261900:p.Ala419Glu		Somatic				CCNT1_uc009zkz.2_Missense_Mutation_p.A134E|CCNT1_uc021qxk.1_5'Flank	p.A419E	NM_001240	NP_001231	WXS	Illumina GAIIx	Phase_I	O60563	CCNT1_HUMAN			8	1579	-			419					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1256C>A	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105726	0.77096	.	.	ENSG00000129315	ENST00000261900	T	0.19669	2.13	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.01894	-1.1252	10	0.22706	T	0.39	-10.7242	18.0305	0.89282	0.0:0.0:1.0:0.0	.	419	O60563	CCNT1_HUMAN	E	419	ENSP00000261900:A419E	ENSP00000261900:A419E	A	-	2	0	CCNT1	47374008	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	9.594000	0.98254	2.634000	0.89283	0.561000	0.74099	GCA		0.463	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		81	102	0	0	0	1	0	81	102					T	49087741	G	T	49087741	3	4	325	1	0	0	0	0	1	0	0	0	2934	1319	46	4	928	4	CCNT1	12	49087741	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	42306140	49087741	84764154	11	5614											
RSRC2	65117	broad.mit.edu	37	12	123001975	123001975	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr12:123001975C>T	ENST00000331738.7	-	5	546	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RSRC2_ENST00000354654.2_Missense_Mutation_p.R86H	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	134	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ACTACGATGGCGTCTGAAATT	0.398																																						uc001ucr.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(400-402)cGc>cAc		Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA.							74	69	71					12																	123001975		2203	4300	6503	SO:0001583	missense	65117							g.chr12:123001975C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.401G>A	12.37:g.123001975C>T	ENSP00000330188:p.Arg134His		Somatic				RSRC2_uc001uco.3_5'UTR|RSRC2_uc001ucp.3_Missense_Mutation_p.R75H|RSRC2_uc001ucs.3_5'UTR|RSRC2_uc001uct.3_Missense_Mutation_p.R86H|RSRC2_uc021rfm.1_Missense_Mutation_p.R134H	p.R134H	NM_023012	NP_075388	WXS	Illumina GAIIx	Phase_I	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	4	561	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		134			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.401G>A	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961886|3.961886	0.74016|0.74016	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.55588|0.27256	0.51|1.68;1.68;1.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.366154	.|0.31989	.|N	.|0.006759	T|T	0.36138|0.36138	0.0956|0.0956	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.69078	.|0.997;0.997;0.997;0.997	.|D;D;D;D	.|0.74674	.|0.984;0.923;0.984;0.923	T|T	0.41502|0.41502	-0.9505|-0.9505	7|10	0.87932|0.72032	D|D	0|0.01	.|.	18.8274|18.8274	0.92124|0.92124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;86;134;75	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	T|H	28|134;86;134;75	ENSP00000446470:A28T|ENSP00000330188:R134H;ENSP00000346678:R86H;ENSP00000343315:R75H	ENSP00000446470:A28T|ENSP00000330188:R134H	A|R	-|-	1|2	0|0	RSRC2|RSRC2	121567928|121567928	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.927000|0.927000	0.56198|0.56198	6.411000|6.411000	0.73298|0.73298	2.528000|2.528000	0.85240|0.85240	0.558000|0.558000	0.71614|0.71614	GCC|CGC		0.398	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		3	28	0	0	0	1	0	3	28					T	123001975	C	T	123001975	3	4	325	1	0	0	0	0	1	0	0	0	13715	768	27	1	927	1	RSRC2	12	123001975	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	73914234	123001975	10849920	12	5615											
SMG6	23293	broad.mit.edu	37	17	2203563	2203563	+	Silent	SNP	G	G	T	rs200691961		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:2203563G>T	ENST00000263073.6	-	2	534	c.484C>A	c.(484-486)Cgg>Agg	p.R162R	SMG6_ENST00000544865.1_Silent_p.R131R	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	162	Interaction with telomeric DNA.				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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTCCACCCGACTGGCGGAT	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1																			0		p.R162L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(484-486)Cgg>Agg		Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.							156	170	165					17																	2203563		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203563G>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.484C>A	17.37:g.2203563G>T			Somatic				SMG6_uc002fud.2_Silent_p.R131R	p.R162R	NM_017575	NP_060045	WXS	Illumina GAIIx	Phase_I	Q86US8	EST1A_HUMAN			1	539	-			162			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.484C>A	CCDS11016.1																																																																																				0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			9	211	0	0	0	1	0	9	211					T	2203563	G	T	2203563	2	4	325	1	0	0	0	0	0	0	0	1	14797	1057	37	4		4	SMG6	17	2203563	Silent	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		2203563	78991647	13	5616											
KRT35	3886	broad.mit.edu	37	17	39635994	39635994	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr17:39635994C>T	ENST00000393989.1	-	2	553	c.511G>A	c.(511-513)Gag>Aag	p.E171K	KRT35_ENST00000246639.2_Missense_Mutation_p.E141K	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	171	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TTGTCAATCTCCACCACCAGC	0.488																																						uc002hws.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(511-513)Gag>Aag		Homo sapiens keratin 35 (KRT35), mRNA.							186	187	187					17																	39635994		2203	4300	6503	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635994C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.511G>A	17.37:g.39635994C>T	ENSP00000377558:p.Glu171Lys		Somatic					p.E171K	NM_002280	NP_002271	WXS	Illumina GAIIx	Phase_I	Q92764	KRT35_HUMAN			1	554	-		Breast(137;0.000286)	171			Coil 1B.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.511G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836446	0.50951	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.90324	-2.65;-2.65	5.1	4.13	0.48395	Filament (1);	0.124173	0.36893	N	0.002359	D	0.88097	0.6345	M	0.64170	1.965	0.24401	N	0.994703	B	0.11235	0.004	B	0.12837	0.008	T	0.81765	-0.0783	10	0.87932	D	0	.	10.2721	0.43489	0.0:0.2832:0.5815:0.1353	.	171	Q92764	KRT35_HUMAN	K	141;171	ENSP00000246639:E141K;ENSP00000377558:E171K	ENSP00000246639:E141K	E	-	1	0	KRT35	36889520	0.005000	0.15991	1.000000	0.80357	0.982000	0.71751	-0.024000	0.12435	1.366000	0.46076	-0.165000	0.13383	GAG		0.488	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		20	146	0	0	0	1	0	20	146					T	39635994	C	T	39635994	3	4	325	1	0	0	0	0	1	0	0	0	8472	864	30	2	880	2	KRT35	17	39635994	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	37432431	39635994	41559216	14	5617											
PPP4R1	9989	broad.mit.edu	37	18	9588150	9588150	+	Silent	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:9588150G>A	ENST00000400556.3	-	6	595	c.522C>T	c.(520-522)tgC>tgT	p.C174C	PPP4R1_ENST00000580583.1_5'UTR|RP11-881L2.1_ENST00000584109.1_RNA|PPP4R1_ENST00000400555.3_Silent_p.C157C	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	174					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						TGAGGACAGGGCACACTTTGG	0.448																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			0				large_intestine(1)|skin(2)	3						c.(520-522)tgC>tgT		Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.							70	66	67					18																	9588150		1968	4170	6138	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9588150G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.522C>T	18.37:g.9588150G>A			Somatic				PPP4R1_uc010wzo.1_Silent_p.C131C|PPP4R1_uc002kod.1_Silent_p.C157C|PPP4R1_uc010wzp.1_Non-coding_Transcript	p.C174C	NM_001042388	NP_001035847	WXS	Illumina GAIIx	Phase_I	Q8TF05	PP4R1_HUMAN			5	640	-			174					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.522C>T	CCDS42412.1																																																																																				0.448	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		3	32	0	0	0	1	0	3	32					A	9588150	G	A	9588150	2	1	325	1	0	0	0	0	0	0	0	1	12403	1195	42	2		2	PPP4R1	18	9588150	Silent	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08		9588150	68489098	15	5618											
TTC39C	125488	broad.mit.edu	37	18	21660663	21660663	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:21660663T>A	ENST00000317571.3	+	5	811	c.575T>A	c.(574-576)tTg>tAg	p.L192*	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.L131*|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	192										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAAGAGTCCTTGACTTCTGAT	0.448																																						uc002kuw.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(574-576)tTg>tAg		Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.							136	130	132					18																	21660663		2203	4300	6503	SO:0001587	stop_gained	125488						binding	g.chr18:21660663T>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.575T>A	18.37:g.21660663T>A	ENSP00000323645:p.Leu192*		Somatic				TTC39C_uc002kuu.3_Nonsense_Mutation_p.L131*	p.L192*	NM_001135993	NP_694943	WXS	Illumina GAIIx	Phase_I	Q8N584	TT39C_HUMAN			4	1027	+			192					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Nonsense_Mutation	SNP	ENST00000317571.3	37	c.575T>A	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	t	34	5.359971	0.95877	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	.	.	.	5.2	4.03	0.46877	.	0.595344	0.16935	N	0.193507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9486	10.1785	0.42952	0.0:0.0772:0.0:0.9228	.	.	.	.	X	131;192	.	ENSP00000306598:L131X	L	+	2	0	TTC39C	19914661	1.000000	0.71417	0.977000	0.42913	0.924000	0.55760	3.312000	0.51927	1.069000	0.40788	0.451000	0.29950	TTG		0.448	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		24	44	0	0	0	1	0	24	44					A	21660663	T	A	21660663	4	1	325	1	0	0	0	0	0	1	0	0	16706	1821	63	5	593	5	TTC39C	18	21660663	Nonsense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08	12072513	21660663	56416585	16	5619											
DSC3	1825	broad.mit.edu	37	18	28602425	28602425	+	Silent	SNP	C	C	T	rs374250811		TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr18:28602425C>T	ENST00000360428.4	-	7	899	c.819G>A	c.(817-819)ccG>ccA	p.P273P	DSC3_ENST00000434452.1_Silent_p.P273P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	273	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTGTGTCCGGTTCATCTC	0.438																																						uc002kwj.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(817-819)ccG>ccA		Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	149	128	135		819,819	-9.8	0.0	18		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSC3	NM_001941.3,NM_024423.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	273/897,273/840	28602425	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602425C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.819G>A	18.37:g.28602425C>T			Somatic				DSC3_uc002kwi.4_Silent_p.P273P	p.P273P	NM_001941	NP_001932	WXS	Illumina GAIIx	Phase_I	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		6	974	-			273			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.819G>A	CCDS32810.1																																																																																				0.438	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		22	34	0	0	0	1	0	22	34					T	28602425	C	T	28602425	2	4	325	1	0	0	0	0	0	0	0	1	4767	639	23	1		1	DSC3	18	28602425	Silent	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	6941762	28602425	49474823	17	5620											
C19orf35	374872	broad.mit.edu	37	19	2278644	2278644	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:2278644T>C	ENST00000342063.3	-	3	644	c.551A>G	c.(550-552)gAc>gGc	p.D184G		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	184										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		ATACAGGGCGTCCCCGCTCTC	0.726																																						uc002lvn.2																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(550-552)gAc>gGc		Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.							22	22	22					19																	2278644		2192	4289	6481	SO:0001583	missense	374872							g.chr19:2278644T>C	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.551A>G	19.37:g.2278644T>C	ENSP00000345102:p.Asp184Gly		Somatic				SPPL2B_uc010dsw.1_Intron	p.D184G	NM_198532	NP_940934	WXS	Illumina GAIIx	Phase_I	Q6ZS72	CS035_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	651	-			184						Missense_Mutation	SNP	ENST00000342063.3	37	c.551A>G	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827991	0.32329	.	.	ENSG00000188305	ENST00000342063	T	0.29655	1.56	4.37	4.37	0.52481	.	.	.	.	.	T	0.46964	0.1420	M	0.72894	2.215	0.30669	N	0.753621	D	0.57257	0.979	P	0.55824	0.785	T	0.54159	-0.8335	9	0.72032	D	0.01	.	10.9441	0.47292	0.0:0.0:0.0:1.0	.	184	Q6ZS72	CS035_HUMAN	G	184	ENSP00000345102:D184G	ENSP00000345102:D184G	D	-	2	0	C19orf35	2229644	0.306000	0.24490	0.356000	0.25785	0.080000	0.17528	2.592000	0.46171	1.597000	0.50072	0.368000	0.22195	GAC		0.726	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		6	9	0	0	0	1	0	6	9					C	2278644	T	C	2278644	3	2	325	1	0	0	0	0	1	0	0	0	1920	1667	58	3	878	3	C19orf35	19	2278644	Missense_Mutation	SNP	T	TCGA-ET-A3BT-01A-11D-A19J-08		2278644	56850339	18	5621											
FAM187B	148109	broad.mit.edu	37	19	35719205	35719205	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chr19:35719205G>A	ENST00000324675.3	-	1	427	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	127						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCTGCAGGGGCCTCTGACCC	0.562																																						uc002nyk.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(379-381)Ccc>Tcc		Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.							113	107	109					19																	35719205		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719205G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.379C>T	19.37:g.35719205G>A	ENSP00000323355:p.Pro127Ser		Somatic					p.P127S	NM_152481	NP_689694	WXS	Illumina GAIIx	Phase_I	Q17R55	F187B_HUMAN			0	424	-			127					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.379C>T	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528018	0.64860	.	.	ENSG00000177558	ENST00000324675	T	0.28666	1.6	5.26	2.91	0.33838	.	0.000000	0.49916	D	0.000121	T	0.49150	0.1540	M	0.66939	2.045	0.36347	D	0.859828	D	0.76494	0.999	D	0.68765	0.96	T	0.60870	-0.7177	10	0.59425	D	0.04	-42.912	11.4746	0.50291	0.0:0.3513:0.6487:0.0	.	127	Q17R55	F187B_HUMAN	S	127	ENSP00000323355:P127S	ENSP00000323355:P127S	P	-	1	0	FAM187B	40411045	0.979000	0.34478	0.863000	0.33907	0.021000	0.10359	1.948000	0.40303	1.308000	0.44962	0.655000	0.94253	CCC		0.562	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		48	72	0	0	0	1	0	48	72					A	35719205	G	A	35719205	3	1	325	1	0	0	0	0	1	0	0	0	5513	1203	42	2	738	2	FAM187B	19	35719205	Missense_Mutation	SNP	G	TCGA-ET-A3BT-01A-11D-A19J-08	33440561	35719205	23409778	19	5622											
RNF128	79589	broad.mit.edu	37	X	106016280	106016281	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:106016280_106016281insT	ENST00000255499.2	+	2	872_873	c.622_623insT	c.(622-624)attfs	p.I208fs	RNF128_ENST00000324342.3_Frame_Shift_Ins_p.I182fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	208					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCACTATTCAATTTTTTTCGTT	0.391																																						uc004eml.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(622-624)attfs		Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016280_106016281insT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.629dupT	X.37:g.106016287_106016287dupT	ENSP00000255499:p.Ile208fs		Somatic				RNF128_uc004emk.3_Frame_Shift_Ins_p.I182fs	p.I208fs	NM_194463	NP_919445	WXS	Illumina GAIIx	Phase_I	Q8TEB7	RN128_HUMAN			1	872_873	+			208					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Ins	INS	ENST00000255499.2	37	c.622_623insT	CCDS14521.1																																																																																				0.391	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		49	90						49	90	---	---	---	---	T	106016281	-	T	106016280	7	5	325	1	0	1	1	0	0	0	0	0	13436	101	4	0	1038	0	RNF128	23	106016280	Frame_Shift_Ins	INS	-	TCGA-ET-A3BT-01A-11D-A19J-08		106016280	49254280	20	5623											
CT45A5	441521	broad.mit.edu	37	X	134947924	134947924	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947924A>T	ENST00000463085.2	-	3	490	c.401T>A	c.(400-402)aTc>aAc	p.I134N	CT45A5_ENST00000370724.3_Missense_Mutation_p.I134N|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.I134N			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	134										endometrium(1)|large_intestine(2)|lung(6)	9						AAGGCATCGGATTTCCTTCAC	0.378																																						uc004eze.3																			0		p.I134L(1)|p.E133*(1)		endometrium(1)|large_intestine(2)|lung(6)	9						c.(400-402)aTc>aAc		Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.							204	170	182					X																	134947924		2187	4265	6452	SO:0001583	missense	441521							g.chrX:134947924A>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.401T>A	X.37:g.134947924A>T	ENSP00000424778:p.Ile134Asn		Somatic				CT45A5_uc022ces.1_Missense_Mutation_p.I134N|CT45A5_uc011mvu.2_Missense_Mutation_p.I134N	p.I134N	NM_001007551	NP_001165759	WXS	Illumina GAIIx	Phase_I	Q6NSH3	CT455_HUMAN			2	646	-			134					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.401T>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865520	0.32977	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.54675	0.56;0.56	2.4	2.4	0.29515	.	0.235442	0.35555	U	0.003128	T	0.52386	0.1731	M	0.73962	2.25	0.09310	N	1	P	0.39022	0.655	B	0.42851	0.4	T	0.51505	-0.8697	10	0.87932	D	0	0.1753	6.0505	0.19783	1.0:0.0:0.0:0.0	.	134	Q6NSH3	CT455_HUMAN	N	134	ENSP00000359759:I134N;ENSP00000425997:I134N	ENSP00000359759:I134N	I	-	2	0	CT45A5	134775590	0.345000	0.24835	0.003000	0.11579	0.003000	0.03518	4.091000	0.57700	0.974000	0.38366	0.299000	0.19835	ATC		0.378	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		35	55	0	0	0	1	0	35	55					T	134947924	A	T	134947924	3	4	325	1	0	0	0	0	1	0	0	0	3988	333	12	5	180	5	CT45A5	23	134947924	Missense_Mutation	SNP	A	TCGA-ET-A3BT-01A-11D-A19J-08	28931644	134947924	20322636	21	5624	5	2									
CT45A5	441521	broad.mit.edu	37	X	134947928	134947928	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BT-01A-11D-A19J-08	TCGA-ET-A3BT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd99f617-2855-4379-ab0f-87b67b471767	0f39fc31-07ab-4d8d-9bd2-510277dd467a	g.chrX:134947928C>G	ENST00000463085.2	-	3	486	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	CT45A5_ENST00000370724.3_Missense_Mutation_p.E133Q|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.E133Q			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	133								p.E133*(1)		endometrium(1)|large_intestine(2)|lung(6)	9						CATCGGATTTCCTTCACTACT	0.388																																						uc004eze.3																			1	Substitution - Nonsense(1)	p.E133*(2)	lung(1)	endometrium(1)|large_intestine(2)|lung(6)	9						c.(397-399)Gaa>Caa		Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.							209	174	186					X																	134947928		2188	4266	6454	SO:0001583	missense	441521							g.chrX:134947928C>G	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"cancer/testis antigen CT45-5"	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.397G>C	X.37:g.134947928C>G	ENSP00000424778:p.Glu133Gln		Somatic				CT45A5_uc022ces.1_Missense_Mutation_p.E133Q|CT45A5_uc011mvu.2_Missense_Mutation_p.E133Q	p.E133Q	NM_001007551	NP_001165759	WXS	Illumina GAIIx	Phase_I	Q6NSH3	CT455_HUMAN			2	642	-			133					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.397G>C	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788780	0.31685	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.62105	0.05;0.05	2.4	1.46	0.22682	.	0.000000	0.85682	U	0.000000	T	0.74152	0.3679	M	0.80332	2.49	0.09310	N	1	D	0.67145	0.996	D	0.75484	0.986	T	0.63042	-0.6725	10	0.87932	D	0	-3.4548	5.7026	0.17891	0.3195:0.6805:0.0:0.0	.	133	Q6NSH3	CT455_HUMAN	Q	133	ENSP00000359759:E133Q;ENSP00000425997:E133Q	ENSP00000359759:E133Q	E	-	1	0	CT45A5	134775594	0.998000	0.40836	0.013000	0.15412	0.005000	0.04900	2.054000	0.41335	0.206000	0.20587	0.365000	0.22127	GAA		0.388	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		35	57	0	0	0	1	0	35	57					G	134947928	C	G	134947928	3	3	325	1	0	0	0	0	1	0	0	0	3988	864	30	4	184	4	CT45A5	23	134947928	Missense_Mutation	SNP	C	TCGA-ET-A3BT-01A-11D-A19J-08	4	134947928	20322632	22	5625	5	2									
IPO11	51194	broad.mit.edu	37	5	61832571	61832571	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr5:61832571A>G	ENST00000325324.6	+	23	2301	c.2132A>G	c.(2131-2133)aAt>aGt	p.N711S	IPO11_ENST00000409296.3_Missense_Mutation_p.N751S|KIF2A_ENST00000509663.2_3'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	711					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAGATCATCAATGGTTATATC	0.239																																						uc011cqr.2																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(2251-2253)aAt>aGt		Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.							63	68	66					5																	61832571		2199	4287	6486	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61832571A>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2132A>G	5.37:g.61832571A>G	ENSP00000316651:p.Asn711Ser		Somatic				IPO11_uc003jtc.3_Missense_Mutation_p.N711S|IPO11_uc003jtd.1_Non-coding_Transcript	p.N751S	NM_001134779	NP_057422	WXS	Illumina GAIIx	Phase_I	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	22	2382	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	711					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.2252A>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.918225	0.52546	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.64991	-0.13;-0.13	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50939	0.1645	L	0.40543	1.245	0.80722	D	1	B;B	0.27559	0.181;0.06	B;B	0.24541	0.054;0.013	T	0.46925	-0.9156	10	0.13853	T	0.58	.	14.1139	0.65139	1.0:0.0:0.0:0.0	.	751;711	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	S	711;751;281	ENSP00000316651:N711S;ENSP00000386992:N751S	ENSP00000316651:N711S	N	+	2	0	IPO11	61868328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.824000	0.75288	2.161000	0.67846	0.528000	0.53228	AAT		0.239	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		10	25	0	0	0	1	0	10	25					G	61832571	A	G	61832571	3	3	326	1	0	0	0	0	1	0	0	0	7793	101	4	3	2342	3	IPO11	5	61832571	Missense_Mutation	SNP	A	TCGA-ET-A3BU-01A-11D-A19J-08		61832571	119082689	1	5626											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	47	0	0	0	1	0	27	47					T	140453136	A	T	140453136	3	4	326	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BU-01A-11D-A19J-08		140453136	18685527	2	5627											
EPPK1	83481	broad.mit.edu	37	8	144940596	144940596	+	Missense_Mutation	SNP	C	C	T	rs373172474	byFrequency	TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr8:144940596C>T	ENST00000525985.1	-	2	6897	c.6826G>A	c.(6826-6828)Gtg>Atg	p.V2276M				P58107	EPIPL_HUMAN	epiplakin 1	2276						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)			AGGTTGCGCACGGGGTCGATG	0.726													C|||	3	0.000599042	0.0023	0	5008	,	,		67247	0		0	False		,,,				2504	0					uc003zaa.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.(6826-6828)Gtg>Atg		Homo sapiens epiplakin 1 (EPPK1), mRNA.		C	MET/VAL	3,4315		0,3,2156	50	47	48		6826	3.7	1.0	8		48	0,8474		0,0,4237	no	missense	EPPK1	NM_031308.1	21	0,3,6393	TT,TC,CC		0.0,0.0695,0.0235	benign	2276/2420	144940596	3,12789	2159	4237	6396	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940596C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6826G>A	8.37:g.144940596C>T	ENSP00000436337:p.Val2276Met		Somatic					p.V2276M	NM_031308	NP_112598	WXS	Illumina GAIIx	Phase_I	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)		0	6839	-	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)		2276					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6826G>A		.	.	.	.	.	.	.	.	.	.	C	19.57	3.851552	0.71719	6.95E-4	0.0	ENSG00000227184	ENST00000525985	T	0.74315	-0.83	4.63	3.71	0.42584	.	.	.	.	.	T	0.81307	0.4795	M	0.73962	2.25	0.27201	N	0.960165	D	0.63880	0.993	P	0.62813	0.907	T	0.70824	-0.4767	9	0.46703	T	0.11	.	5.869	0.18793	0.0:0.6813:0.2121:0.1066	.	2276	E9PPU0	.	M	2276	ENSP00000436337:V2276M	ENSP00000436337:V2276M	V	-	1	0	EPPK1	145012584	0.000000	0.05858	0.996000	0.52242	0.994000	0.84299	-0.654000	0.05354	2.416000	0.81992	0.586000	0.80456	GTG		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	41	0	0	0	1	0	5	41					T	144940596	C	T	144940596	3	4	326	1	0	0	0	0	1	0	0	0	5190	536	19	1	440	1	EPPK1	8	144940596	Missense_Mutation	SNP	C	TCGA-ET-A3BU-01A-11D-A19J-08		144940596	1423426	3	5628											
C9orf106	414318	broad.mit.edu	37	9	132084622	132084622	+	RNA	SNP	G	G	T			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr9:132084622G>T	ENST00000316786.1	+	0	583							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				ATGCCCGGGGGACACTGCCCT	0.597																																						uc004bxs.2																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(529-531)gGa>gTa		Homo sapiens chromosome 9 open reading frame 106 (C9orf106), mRNA.							42	45	44					9																	132084622		1978	4162	6140			414318							g.chr9:132084622G>T	AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084622G>T			Somatic					p.G177V	NM_001012715	NP_001012733	WXS	Illumina GAIIx	Phase_I	Q8NAJ2	CI106_HUMAN			1	583	+		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)	177						Missense_Mutation	SNP	ENST00000316786.1	37	c.530G>T																																																																																					0.597	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			9	22	0	0	0	1	0	9	22					T	132084622	G	T	132084622	1	4	326	0	1	0	0	0	0	0	0	0	2447	1174	41	4		4	C9orf106	9	132084622	RNA	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08		132084622	9128809	4	5629											
PPRC1	23082	broad.mit.edu	37	10	103899202	103899202	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr10:103899202C>T	ENST00000278070.2	+	5	976	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.H313Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCGGGCCATGCACCCATACTG	0.582																																						uc001kum.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(937-939)Cac>Tac		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.							81	65	70					10																	103899202		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding	g.chr10:103899202C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.937C>T	10.37:g.103899202C>T	ENSP00000278070:p.His313Tyr		Somatic				PPRC1_uc001kun.3_Missense_Mutation_p.H193Y|PPRC1_uc010qqj.2_Missense_Mutation_p.H313Y|PPRC1_uc009xxa.3_Non-coding_Transcript	p.H313Y	NM_015062	NP_055877	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	976	+		Colorectal(252;0.122)	313					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.937C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512011	0.64522	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.53640	0.61;0.61	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.61825	0.2378	L	0.32530	0.975	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.62992	-0.6736	10	0.87932	D	0	.	19.8248	0.96612	0.0:1.0:0.0:0.0	.	313;193;313	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Y	313	ENSP00000278070:H313Y;ENSP00000399743:H313Y	ENSP00000278070:H313Y	H	+	1	0	PPRC1	103889192	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.630000	0.74272	2.791000	0.96007	0.511000	0.50034	CAC		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		16	39	0	0	0	1	0	16	39					T	103899202	C	T	103899202	3	4	326	1	0	0	0	0	1	0	0	0	12410	710	25	2	955	2	PPRC1	10	103899202	Missense_Mutation	SNP	C	TCGA-ET-A3BU-01A-11D-A19J-08		103899202	31635545	5	5630											
GIT1	28964	broad.mit.edu	37	17	27910005	27910005	+	Silent	SNP	G	G	A			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr17:27910005G>A	ENST00000225394.3	-	3	485	c.237C>T	c.(235-237)tcC>tcT	p.S79S	GIT1_ENST00000581348.1_Silent_p.S79S|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.S79S|GIT1_ENST00000579937.1_Silent_p.S79S	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	79	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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)		GGTCCAGCAGGGAGTGCTCCC	0.627																																					Colon(81;41 1719 20078 35068)	uc002heg.2																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(235-237)tcC>tcT		Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.							57	58	58					17																	27910005		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.chr17:27910005G>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.237C>T	17.37:g.27910005G>A			Somatic				GIT1_uc002hef.2_Silent_p.S79S|GIT1_uc010wbg.1_Silent_p.S79S	p.S79S	NM_001085454	NP_001078923	WXS	Illumina GAIIx	Phase_I	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	2	451	-			79			Arf-GAP.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.237C>T	CCDS11250.1																																																																																				0.627	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		17	44	0	0	0	1	0	17	44					A	27910005	G	A	27910005	2	1	326	1	0	0	0	0	0	0	0	1	6396	1219	43	2		2	GIT1	17	27910005	Silent	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08		27910005	53285205	6	5631											
CDC42EP4	23580	broad.mit.edu	37	17	71282217	71282217	+	Silent	SNP	G	G	A			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr17:71282217G>A	ENST00000335793.3	-	2	817	c.423C>T	c.(421-423)tcC>tcT	p.S141S	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.S71S			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	141					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TCACGGGGCTGGATGACAGGC	0.652																																						uc002jjn.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(421-423)tcC>tcT		Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.							51	51	51					17																	71282217		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282217G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.423C>T	17.37:g.71282217G>A			Somatic				CDC42EP4_uc002jjo.3_Silent_p.S141S|CDC42EP4_uc002jjp.1_Silent_p.S71S|CDC42EP4_uc021ucn.1_Silent_p.S141S	p.S141S	NM_012121	NP_036253	WXS	Illumina GAIIx	Phase_I	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		1	570	-			141					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.423C>T	CCDS11695.1																																																																																				0.652	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		3	47	0	0	0	1	0	3	47					A	71282217	G	A	71282217	2	1	326	1	0	0	0	0	0	0	0	1	3078	1335	47	2		2	CDC42EP4	17	71282217	Silent	SNP	G	TCGA-ET-A3BU-01A-11D-A19J-08	43372212	71282217	9912993	7	5632											
ISYNA1	51477	broad.mit.edu	37	19	18547917	18547918	+	Splice_Site	INS	-	-	G			TCGA-ET-A3BU-01A-11D-A19J-08	TCGA-ET-A3BU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47f6cd1-82ec-438e-b236-2ac5e9355d65	305bd469-d052-44cf-9a97-986cfbc9d686	g.chr19:18547917_18547918insG	ENST00000338128.8	-	4	500		c.e4-2		ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000317018.6_Splice_Site|ISYNA1_ENST00000578963.1_5'UTR|ISYNA1_ENST00000457269.4_Splice_Site	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GTTGGCCTCCTGGGGGTCAGCA	0.698																																						uc002njd.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.e4-1		Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18547917_18547918insG		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.283-2->C	19.37:g.18547922_18547922dupG			Somatic				ISYNA1_uc002nja.2_5'UTR|ISYNA1_uc002njb.2_Splice_Site|ISYNA1_uc002njc.2_Intron|ISYNA1_uc010xqh.2_Splice_Site|ISYNA1_uc002nje.2_Splice_Site_p.E41_splice	p.E95_splice	NM_016368	NP_001164410	WXS	Illumina GAIIx	Phase_I	Q9NPH2	INO1_HUMAN			4	501	-			95					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Splice_Site	INS	ENST00000338128.8	37	c.283_splice	CCDS12379.1																																																																																				0.698	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368	Intron	2	4						2	4	---	---	---	---	G	18547918	-	G	18547917	8	5	326	1	0	1	1	0	0	0	1	0	7867	1594	55	0	1427	0	ISYNA1	19	18547917	Splice_Site	INS	-	TCGA-ET-A3BU-01A-11D-A19J-08		18547917	40581066	8	5633											
CDC42	998	broad.mit.edu	37	1	22412941	22412941	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:22412941A>T	ENST00000344548.3	+	5	439	c.188A>T	c.(187-189)gAt>gTt	p.D63V	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.D63V|CDC42_ENST00000421089.2_Missense_Mutation_p.D105V|CDC42_ENST00000400259.1_Missense_Mutation_p.D63V	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	63					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GGGCAAGAGGATTATGACAGA	0.373																																						uc010odr.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(322-324)gAt>gTt		Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.							117	118	117					1																	22412941		2203	4300	6503	SO:0001583	missense	998				T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22412941A>T	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.188A>T	1.37:g.22412941A>T	ENSP00000341072:p.Asp63Val		Somatic				CDC42_uc009vqg.1_Missense_Mutation_p.D63V|CDC42_uc001bfp.3_Missense_Mutation_p.D63V|CDC42_uc009vqh.3_Missense_Mutation_p.D22V|CDC42_uc001bfq.3_Missense_Mutation_p.D63V|CDC42_uc001bfr.3_Missense_Mutation_p.D63V|CDC42_uc010ods.2_Missense_Mutation_p.D105V	p.D108V	NM_001039802	NP_001782	WXS	Illumina GAIIx	Phase_I	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	4	489	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	63					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.323A>T	CCDS221.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.031071	0.75504	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.4	4.27	0.50696	Small GTP-binding protein domain (1);	0.042947	0.85682	D	0.000000	D	0.90469	0.7015	H	0.95780	3.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.993	D;D;D;D;D	0.91635	0.999;0.993;0.999;0.993;0.984	D	0.91349	0.5103	10	0.87932	D	0	.	10.4847	0.44715	0.9223:0.0:0.0777:0.0	.	105;108;105;63;63	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	V	63;63;63;105;63	ENSP00000383118:D63V;ENSP00000341072:D63V;ENSP00000314458:D63V;ENSP00000398592:D105V;ENSP00000398327:D63V	ENSP00000314458:D63V	D	+	2	0	CDC42	22285528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.062000	0.93920	0.979000	0.38497	0.528000	0.53228	GAT		0.373	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		14	69	0	0	0	1	0	14	69					T	22412941	A	T	22412941	3	4	327	1	0	0	0	0	1	0	0	0	3071	333	12	5	198	5	CDC42	1	22412941	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		22412941	226837680	1	5634											
IGFN1	91156	broad.mit.edu	37	1	201183351	201183351	+	Silent	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:201183351G>A	ENST00000335211.4	+	13	8905	c.8775G>A	c.(8773-8775)caG>caA	p.Q2925Q	IGFN1_ENST00000451870.2_Silent_p.Q468Q|IGFN1_ENST00000295591.8_Silent_p.Q85Q	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	468						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGAAGTGCAGCCGGGGGAGG	0.657																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8773-8775)caG>caA		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							40	33	35					1																	201183351		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201183351G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8775G>A	1.37:g.201183351G>A			Somatic				IGFN1_uc001gwb.3_Non-coding_Transcript	p.Q2925Q	NM_001164586	NP_001158058	WXS	Illumina GAIIx	Phase_I					12	8905	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.8775G>A	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009686	0.07912	.	.	ENSG00000163395	ENST00000412892	.	.	.	3.39	2.45	0.29901	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.21211	-1.0252	4	.	.	.	.	8.0536	0.30591	0.1197:0.0:0.8803:0.0	.	.	.	.	T	343	.	.	A	+	1	0	IGFN1	199449974	0.001000	0.12720	0.004000	0.12327	0.098000	0.18820	0.179000	0.16840	0.597000	0.29811	0.313000	0.20887	GCC		0.657	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		10	28	0	0	0	1	0	10	28					A	201183351	G	A	201183351	2	1	327	1	0	0	0	0	0	0	0	1	7590	962	34	2		2	IGFN1	1	201183351	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	178770410	201183351	48067270	2	5635											
CHI3L1	1116	broad.mit.edu	37	1	203148632	203148632	+	Missense_Mutation	SNP	C	C	G	rs370915482		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:203148632C>G	ENST00000255409.3	-	10	1218	c.1093G>C	c.(1093-1095)Ggc>Cgc	p.G365R		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	365					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AGATCCTGGCCACAGAAGGAG	0.637																																						uc001gzi.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						c.(1093-1095)Ggc>Cgc		Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.							54	56	55					1																	203148632		2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203148632C>G	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.1093G>C	1.37:g.203148632C>G	ENSP00000255409:p.Gly365Arg		Somatic				CHI3L1_uc001gzk.1_3'UTR|CHI3L1_uc001gzj.2_Missense_Mutation_p.G304R|CHI3L1_uc001gzl.3_5'Flank	p.G365R	NM_001276	NP_001267	WXS	Illumina GAIIx	Phase_I	P36222	CH3L1_HUMAN			9	1264	-			365					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.1093G>C	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.027|9.027	0.986337|0.986337	0.18889|0.18889	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.30182|.	1.54|.	4.69|4.69	2.36|2.36	0.29203|0.29203	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.997159|.	0.08117|.	N|.	0.995361|.	T|T	0.60792|0.60792	0.2296|0.2296	M|M	0.88640|0.88640	2.97|2.97	0.09310|0.09310	N|N	1|1	P|.	0.35575|.	0.51|.	B|.	0.25759|.	0.063|.	T|T	0.54820|0.54820	-0.8236|-0.8236	10|5	0.59425|.	D|.	0.04|.	-7.9099|-7.9099	5.3157|5.3157	0.15854|0.15854	0.0:0.6187:0.1901:0.1912|0.0:0.6187:0.1901:0.1912	.|.	365|.	P36222|.	CH3L1_HUMAN|.	R|S	365|133	ENSP00000255409:G365R|.	ENSP00000255409:G365R|.	G|W	-|-	1|2	0|0	CHI3L1|CHI3L1	201415255|201415255	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.442000|0.442000	0.32017|0.32017	0.136000|0.136000	0.15974|0.15974	0.937000|0.937000	0.37394|0.37394	0.491000|0.491000	0.48974|0.48974	GGC|TGG		0.637	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		4	65	0	0	0	1	0	4	65					G	203148632	C	G	203148632	3	3	327	1	0	0	0	0	1	0	0	0	3340	594	21	4	62	4	CHI3L1	1	203148632	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	1965281	203148632	46101989	3	5636											
TGOLN2	10618	broad.mit.edu	37	2	85552043	85552043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:85552043delG	ENST00000409232.3	-	3	1364	c.1303delC	c.(1303-1305)cagfs	p.Q435fs	TGOLN2_ENST00000377386.3_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000409015.1_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000398263.2_Frame_Shift_Del_p.Q377fs|TGOLN2_ENST00000444342.2_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000282120.2_Frame_Shift_Del_p.Q279fs			O43493	TGON2_HUMAN	trans-golgi network protein 2	435						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTTACCTTCTGGTCCAAACGT	0.502																																						uc021vjw.1																			0											c.(1303-1305)cagfs		Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.							79	83	81					2																	85552043		1944	4102	6046	SO:0001589	frameshift_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85552043delG	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1303delC	2.37:g.85552043delG	ENSP00000386443:p.Gln435fs		Somatic				TGOLN2_uc002spb.3_Frame_Shift_Del_p.Q377fs|TGOLN2_uc002soz.3_Frame_Shift_Del_p.Q435fs|TGOLN2_uc021vjx.1_Frame_Shift_Del_p.Q435fs|TGOLN2_uc002spa.3_Non-coding_Transcript|TGOLN2_uc002spc.2_Frame_Shift_Del_p.Q435fs	p.Q435fs	NM_001206840	NP_001193769	WXS	Illumina GAIIx	Phase_I	O43493	TGON2_HUMAN			2	1637	-			435					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Frame_Shift_Del	DEL	ENST00000409232.3	37	c.1303delC	CCDS56126.1																																																																																				0.502	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		2	4						2	4	---	---	---	---	-	85552043	G	-	85552043	7	5	327	1	0	1	0	1	0	0	0	0	15833	1357	47	0	18	0	TGOLN2	2	85552043	Frame_Shift_Del	DEL	G	TCGA-ET-A3BV-01A-11D-A19J-08		85552043	157647330	4	5637											
TFPI	7035	broad.mit.edu	37	2	188332580	188332580	+	Silent	SNP	A	A	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:188332580A>G	ENST00000233156.3	-	7	1002	c.708T>C	c.(706-708)aaT>aaC	p.N236N	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.N236N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	236	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CAATGACTGAATTGTAGTAGA	0.413																																						uc002upy.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(706-708)aaT>aaC		Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	Coagulation factor VIIa(DB00036)						142	133	136					2																	188332580		2203	4300	6503	SO:0001819	synonymous_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188332580A>G		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.708T>C	2.37:g.188332580A>G			Somatic					p.N236N	NM_006287	NP_006278	WXS	Illumina GAIIx	Phase_I	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		6	1003	-			236			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Silent	SNP	ENST00000233156.3	37	c.708T>C	CCDS2294.1																																																																																				0.413	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		17	69	0	0	0	1	0	17	69					G	188332580	A	G	188332580	2	3	327	1	0	0	0	0	0	0	0	1	15805	98	4	3		3	TFPI	2	188332580	Silent	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08	102780537	188332580	54866793	5	5638											
ACSL3	2181	broad.mit.edu	37	2	223789308	223789308	+	Silent	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:223789308C>T	ENST00000357430.3	+	11	1818	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	ACSL3_ENST00000392066.3_Silent_p.C429C	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	429					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CTCCACTGTGCGACAGGTAAG	0.323			T	ETV1	prostate																																	uc002vni.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(1285-1287)tgC>tgT		Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	Icosapent(DB00159)						84	83	83					2																	223789308		2203	4300	6503	SO:0001819	synonymous_variant	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223789308C>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1287C>T	2.37:g.223789308C>T			Somatic				ACSL3_uc002vnj.3_Silent_p.C429C	p.C429C	NM_004457	NP_976251	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	10	1738	+		Renal(207;0.0183)	429					Q60I92|Q8IUM9	Silent	SNP	ENST00000357430.3	37	c.1287C>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959629	0.34565	.	.	ENSG00000123983	ENST00000407441	.	.	.	5.77	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.0096	8.9034	0.35507	0.0:0.2363:0.0:0.7637	.	.	.	.	X	13	.	.	R	+	1	2	ACSL3	223497552	1.000000	0.71417	0.945000	0.38365	0.390000	0.30446	1.065000	0.30592	0.458000	0.26988	-0.482000	0.04802	CGA		0.323	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		3	54	0	0	0	1	0	3	54					T	223789308	C	T	223789308	2	4	327	1	0	0	0	0	0	0	0	1	178	776	27	1		1	ACSL3	2	223789308	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	35456728	223789308	19410065	6	5639											
IMPDH2	3615	broad.mit.edu	37	3	49064023	49064023	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:49064023G>C	ENST00000326739.4	-	8	878	c.839C>G	c.(838-840)tCc>tGc	p.S280C	RP13-131K19.6_ENST00000607245.1_RNA	NM_000884.2	NP_000875.2			IMP (inosine 5'-monophosphate) dehydrogenase 2											breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGGAAGATGGAATTTCCCTG	0.468																																						uc003cvt.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(838-840)tCc>tGc		Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						123	109	114					3																	49064023		2203	4300	6503	SO:0001583	missense	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49064023G>C		CCDS2786.1	3p21.2	2014-05-15	2010-04-29		ENSG00000178035	ENSG00000178035	1.1.1.205		6053	protein-coding gene	gene with protein product		146691				9858805, 1969416	Standard	XM_006713128		Approved		uc003cvt.3	P12268	OTTHUMG00000156771	ENST00000326739.4:c.839C>G	3.37:g.49064023G>C	ENSP00000321584:p.Ser280Cys		Somatic					p.S280C	NM_000884	NP_000875	WXS	Illumina GAIIx	Phase_I	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	931	-			280						Missense_Mutation	SNP	ENST00000326739.4	37	c.839C>G	CCDS2786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.234856|4.234856	0.79800|0.79800	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.82344	.|-1.6;-1.6	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94775|0.94775	0.8313|0.8313	H|H	0.97491|0.97491	4.015|4.015	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	D|D	0.96332|0.96332	0.9244|0.9244	5|10	.|0.87932	.|D	.|0	-19.0911|-19.0911	19.4574|19.4574	0.94900|0.94900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|280	.|P12268	.|IMDH2_HUMAN	L|C	211|280;280;255	.|ENSP00000321584:S280C;ENSP00000403502:S255C	.|ENSP00000321584:S280C	F|S	-|-	3|2	2|0	IMPDH2|IMPDH2	49039027|49039027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.706000|9.706000	0.98722|0.98722	2.604000|2.604000	0.88044|0.88044	0.591000|0.591000	0.81541|0.81541	TTC|TCC		0.468	IMPDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345657.1			5	78	0	0	0	1	0	5	78					C	49064023	G	C	49064023	3	2	327	1	0	0	0	0	1	0	0	0	7727	1174	41	4	733	4	IMPDH2	3	49064023	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		49064023	148958407	7	5640											
C3orf67	200844	broad.mit.edu	37	3	58849302	58849302	+	Silent	SNP	G	G	T	rs148755922		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:58849302G>T	ENST00000482387.1	-	8	1296	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G	RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Silent_p.G307G|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Silent_p.G400G			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	400										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGCTGTCGCCGCCGTAAAAAT	0.423																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1198-1200)ggC>ggA		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							69	62	64					3																	58849302		2203	4300	6503	SO:0001819	synonymous_variant	200844							g.chr3:58849302G>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1200C>A	3.37:g.58849302G>T			Somatic				C3orf67_uc003dks.1_Silent_p.G215G|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.G215G|C3orf67_uc003dkw.3_Silent_p.G295G	p.G400G	NM_198463	NP_940865	WXS	Illumina GAIIx	Phase_I	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	11	1609	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	400					B9EKV6|Q6ZV69	Silent	SNP	ENST00000482387.1	37	c.1200C>A																																																																																					0.423	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		6	35	0	0	0	1	0	6	35					T	58849302	G	T	58849302	2	4	327	1	0	0	0	0	0	0	0	1	2241	1074	38	4		4	C3orf67	3	58849302	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	9785279	58849302	139173128	8	5641											
ARHGAP26	23092	broad.mit.edu	37	5	142393652	142393652	+	Missense_Mutation	SNP	A	A	C			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr5:142393652A>C	ENST00000274498.4	+	12	1493	c.1115A>C	c.(1114-1116)aAc>aCc	p.N372T	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.N372T	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	372					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGTCTACAACTCGAACAAA	0.423																																						uc011dbj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1114-1116)aAc>aCc		Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.							128	118	122					5																	142393652		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	g.chr5:142393652A>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1115A>C	5.37:g.142393652A>C	ENSP00000274498:p.Asn372Thr		Somatic				ARHGAP26_uc003lmt.3_Missense_Mutation_p.N372T|ARHGAP26_uc003lmw.3_Missense_Mutation_p.N372T	p.N372T	NM_015071	NP_055886	WXS	Illumina GAIIx	Phase_I	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1150	+		all_hematologic(541;0.0416)	372					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1115A>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	8.774	0.926734	0.18056	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000451259	T;T;T	0.42131	3.17;3.2;0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.28556	0.865	0.48762	D	0.999702	B;B	0.22480	0.07;0.012	B;B	0.19148	0.024;0.013	T	0.09335	-1.0679	10	0.19147	T	0.46	.	11.6523	0.51297	1.0:0.0:0.0:0.0	.	372;372	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	T	372;372;73	ENSP00000274498:N372T;ENSP00000367243:N372T;ENSP00000411571:N73T	ENSP00000274498:N372T	N	+	2	0	ARHGAP26	142373845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.562000	0.67346	2.008000	0.58898	0.533000	0.62120	AAC		0.423	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		15	53	0	0	0	1	0	15	53					C	142393652	A	C	142393652	3	2	327	1	0	0	0	0	1	0	0	0	875	43	2	5	1161	5	ARHGAP26	5	142393652	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		142393652	38521608	9	5642											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	56	0	0	0	1	0	16	56					T	140453136	A	T	140453136	3	4	327	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		140453136	18685527	10	5643											
SGK223	157285	broad.mit.edu	37	8	8176174	8176174	+	Silent	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:8176174G>A	ENST00000520004.1	-	6	3975	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P	SGK223_ENST00000330777.4_Silent_p.P1237P			Q86YV5	SG223_HUMAN		1241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACACGATCTCGGGGGCCAGCC	0.612																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(3709-3711)ccC>ccT		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							31	35	33					8																	8176174		1916	4126	6042	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176174G>A																												ENST00000520004.1:c.3711C>T	8.37:g.8176174G>A			Somatic					p.P1237P	NM_001080826	NP_001074295	WXS	Illumina GAIIx	Phase_I	Q86YV5	SG223_HUMAN			4	3711	-			1237			Protein kinase.		Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.3711C>T	CCDS43706.1																																																																																				0.612	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			3	30	0	0	0	1	0	3	30					A	8176174	G	A	8176174	2	1	327	1	0	0	0	0	0	0	0	1	14210	1103	39	1		1	SGK223	8	8176174	Silent	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		8176174	138187848	11	5644											
MTBP	27085	broad.mit.edu	37	8	121457748	121457748	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:121457748G>A	ENST00000305949.1	+	1	83	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MRPL13_ENST00000306185.3_5'Flank	NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	13					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGGGGAAGGAAAATTCCCG	0.582																																						uc003ypc.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(37-39)gGa>gAa		Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.							79	80	80					8																	121457748		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121457748G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.38G>A	8.37:g.121457748G>A	ENSP00000303398:p.Gly13Glu		Somatic				MRPL13_uc003ypa.3_5'Flank|MRPL13_uc010mdf.3_5'Flank|MTBP_uc003ypb.1_Missense_Mutation_p.G13E|MTBP_uc011lie.1_Non-coding_Transcript	p.G13E	NM_022045	NP_071328	WXS	Illumina GAIIx	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		0	83	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		13					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.38G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888754	0.52014	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.15	0.202	0.15190	.	0.145914	0.44483	D	0.000442	T	0.22589	0.0545	N	0.17082	0.46	0.09310	N	1	B;B	0.20052	0.006;0.041	B;B	0.23150	0.018;0.044	T	0.13361	-1.0512	9	0.41790	T	0.15	-11.3452	6.6322	0.22863	0.2591:0.1238:0.6171:0.0	.	13;13	Q96DY7;B4DUR5	MTBP_HUMAN;.	E	13	.	ENSP00000303398:G13E	G	+	2	0	MTBP	121526929	0.100000	0.21855	0.182000	0.23118	0.782000	0.44232	0.192000	0.17096	0.075000	0.16796	0.448000	0.29417	GGA		0.582	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		11	89	0	0	0	1	0	11	89					A	121457748	G	A	121457748	3	1	327	1	0	0	0	0	1	0	0	0	9912	1174	41	2	40	2	MTBP	8	121457748	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	113281574	121457748	24906274	12	5645											
DLG5	9231	broad.mit.edu	37	10	79581669	79581669	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr10:79581669G>T	ENST00000372391.2	-	15	2578	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	858					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGGGGGCCTGGCTCCTTCCT	0.592																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2572-2574)cCa>cAa		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							86	88	87					10																	79581669		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581669G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2573C>A	10.37:g.79581669G>T	ENSP00000361467:p.Pro858Gln		Somatic				DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.P462Q	p.P858Q	NM_004747	NP_004738	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		14	2643	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		858					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2573C>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.137099	0.01742	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.03831	3.79	5.66	-5.35	0.02697	.	1.663530	0.04183	N	0.326935	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.45702	-0.9243	10	0.13108	T	0.6	.	6.953	0.24556	0.5538:0.0:0.211:0.2352	.	748;858	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	Q	858;407	ENSP00000361467:P858Q	ENSP00000361467:P858Q	P	-	2	0	DLG5	79251675	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.488000	0.06497	-1.589000	0.01625	-0.908000	0.02827	CCA		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	94	0	0	0	1	0	10	94					T	79581669	G	T	79581669	3	4	327	1	0	0	0	0	1	0	0	0	4558	1348	47	4	3258	4	DLG5	10	79581669	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		79581669	55953078	13	5646											
OR5AR1	219493	broad.mit.edu	37	11	56431736	56431736	+	Missense_Mutation	SNP	C	C	A	rs182417012	byFrequency	TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:56431736C>A	ENST00000302969.2	+	1	599	c.575C>A	c.(574-576)aCc>aAc	p.T192N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	192						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGCTCAGACACCTACATCAGT	0.453													C|||	5	0.000998403	0	0	5008	,	,		23361	0.004		0	False		,,,				2504	0.001					uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(574-576)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							201	174	183					11																	56431736		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431736C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.575C>A	11.37:g.56431736C>A	ENSP00000302639:p.Thr192Asn		Somatic				OR8U8_uc001nit.2_Intron	p.T192N	NM_001004730	NP_001004730	WXS	Illumina GAIIx	Phase_I	Q8NGP9	O5AR1_HUMAN			0	575	+			192					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.575C>A	CCDS31535.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	13.18	2.158828	0.38119	.	.	ENSG00000172459	ENST00000302969	T	0.00256	8.42	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000153	T	0.00440	0.0014	M	0.89715	3.055	0.28290	N	0.923576	D	0.76494	0.999	D	0.69824	0.966	T	0.22452	-1.0216	10	0.56958	D	0.05	.	8.8868	0.35409	0.0:0.9:0.0:0.1	.	192	Q8NGP9	O5AR1_HUMAN	N	192	ENSP00000302639:T192N	ENSP00000302639:T192N	T	+	2	0	OR5AR1	56188312	0.176000	0.23096	1.000000	0.80357	0.974000	0.67602	1.857000	0.39399	2.494000	0.84150	0.573000	0.79308	ACC		0.453	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		22	150	0	0	0	1	0	22	150					A	56431736	C	A	56431736	3	1	327	1	0	0	0	0	1	0	0	0	11145	507	18	4	577	4	OR5AR1	11	56431736	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		56431736	78574780	14	5647											
SPTBN2	6712	broad.mit.edu	37	11	66472833	66472833	+	Silent	SNP	C	C	T	rs367863277		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:66472833C>T	ENST00000533211.1	-	15	2245	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	SPTBN2_ENST00000529997.1_Silent_p.E638E|SPTBN2_ENST00000309996.2_Silent_p.E638E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	638					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGTGATTCCTCCAGCCGGG	0.697																																						uc001ojd.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1912-1914)gaG>gaA		Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.		C		0,4322		0,0,2161	19	22	21		1914	2.5	1.0	11		21	2,8504		0,2,4251	no	coding-synonymous	SPTBN2	NM_006946.2		0,2,6412	TT,TC,CC		0.0235,0.0,0.0156		638/2391	66472833	2,12826	2161	4253	6414	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472833C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1914G>A	11.37:g.66472833C>T			Somatic					p.E638E	NM_006946	NP_008877	WXS	Illumina GAIIx	Phase_I	O15020	SPTN2_HUMAN			13	1986	-			638					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1914G>A	CCDS8150.1																																																																																				0.697	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	33	0	0	0	1	0	5	33					T	66472833	C	T	66472833	2	4	327	1	0	0	0	0	0	0	0	1	15119	680	24	2		2	SPTBN2	11	66472833	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	10041097	66472833	68533683	15	5648											
CHEK1	1111	broad.mit.edu	37	11	125513996	125513996	+	Missense_Mutation	SNP	G	G	A	rs34097480		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:125513996G>A	ENST00000534070.1	+	10	1189	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	CHEK1_ENST00000428830.2_Missense_Mutation_p.V312M|CHEK1_ENST00000427383.2_Missense_Mutation_p.V328M|CHEK1_ENST00000544373.1_Missense_Mutation_p.V312M|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Missense_Mutation_p.V312M|CHEK1_ENST00000438015.1_Missense_Mutation_p.V312M|CHEK1_ENST00000278916.3_Missense_Mutation_p.V312M	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	312			V -> M (in dbSNP:rs34097480). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGAAGAAAATGTGAAGTACTC	0.388								Other conserved DNA damage response genes																														uc010sbh.2																			0		p.W328L(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(982-984)Gtg>Atg	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 5, non-coding RNA.							89	87	88					11																	125513996		2201	4299	6500	SO:0001583	missense	1111				DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125513996G>A	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.934G>A	11.37:g.125513996G>A	ENSP00000435371:p.Val312Met		Somatic				CHEK1_uc009zbo.3_Missense_Mutation_p.V312M|CHEK1_uc010sbi.2_Missense_Mutation_p.V312M|CHEK1_uc001qcf.4_Missense_Mutation_p.V312M|CHEK1_uc009zbp.3_Missense_Mutation_p.V312M|CHEK1_uc001qcg.4_Missense_Mutation_p.V312M	p.V328M			WXS	Illumina GAIIx	Phase_I	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	8	1607	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	312					A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.982G>A	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533973	0.27387	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	5.49	4.57	0.56435	Protein kinase-like domain (1);	0.278876	0.38326	N	0.001739	T	0.12433	0.0302	N	0.08118	0	0.34781	D	0.734733	B;B;B;B	0.13594	0.007;0.008;0.002;0.002	B;B;B;B	0.17098	0.012;0.017;0.005;0.005	T	0.11616	-1.0580	10	0.33940	T	0.23	-6.7621	8.2594	0.31775	0.228:0.0:0.772:0.0	rs34097480	312;328;312;312	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	M	312;328;312;312;312;312;312	ENSP00000388648:V312M;ENSP00000391090:V328M;ENSP00000412504:V312M;ENSP00000442317:V312M;ENSP00000435371:V312M;ENSP00000432890:V312M;ENSP00000278916:V312M	ENSP00000278916:V312M	V	+	1	0	CHEK1	125019206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.757000	0.55212	2.593000	0.87608	0.655000	0.94253	GTG		0.388	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		8	96	0	0	0	1	0	8	96					A	125513996	G	A	125513996	3	1	327	1	0	0	0	0	1	0	0	0	3334	1377	48	2	968	2	CHEK1	11	125513996	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	59041163	125513996	9492520	16	5649											
POSTN	10631	broad.mit.edu	37	13	38166263	38166263	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr13:38166263A>G	ENST00000379747.4	-	3	374	c.257T>C	c.(256-258)aTg>aCg	p.M86T	POSTN_ENST00000379743.4_Missense_Mutation_p.M86T|POSTN_ENST00000541179.1_Missense_Mutation_p.M86T|POSTN_ENST00000379742.4_Missense_Mutation_p.M86T|POSTN_ENST00000379749.4_Missense_Mutation_p.M86T|POSTN_ENST00000541481.1_Missense_Mutation_p.M86T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	86	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATTCCTTCCATTCTCATATA	0.333																																						uc001uwo.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(256-258)aTg>aCg		Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.							70	69	69					13																	38166263		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38166263A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.257T>C	13.37:g.38166263A>G	ENSP00000369071:p.Met86Thr		Somatic				POSTN_uc001uwp.4_Missense_Mutation_p.M86T|POSTN_uc001uwr.3_Missense_Mutation_p.M86T|POSTN_uc001uwq.3_Missense_Mutation_p.M86T|POSTN_uc010teu.1_Missense_Mutation_p.M86T|POSTN_uc010tev.1_Missense_Mutation_p.M86T|POSTN_uc010tew.1_Missense_Mutation_p.M86T|POSTN_uc010tex.1_Missense_Mutation_p.M1T	p.M86T	NM_006475	NP_006466	WXS	Illumina GAIIx	Phase_I	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	2	375	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	86			EMI.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.257T>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147665	0.57151	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.18	5.18	0.71444	EMI domain (1);FAS1 domain (1);	0.090555	0.85682	D	0.000000	D	0.86422	0.5929	L	0.36672	1.1	0.50039	D	0.999844	B;P;P;P;P;P;P	0.43662	0.304;0.622;0.761;0.481;0.814;0.762;0.761	B;B;B;B;B;B;B	0.41271	0.105;0.275;0.179;0.275;0.32;0.352;0.277	D	0.85225	0.1029	10	0.27082	T	0.32	.	15.3257	0.74160	1.0:0.0:0.0:0.0	.	86;86;86;86;86;86;86	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	86;86;86;86;86;86;3	ENSP00000437959:M86T;ENSP00000369073:M86T;ENSP00000369071:M86T;ENSP00000369067:M86T;ENSP00000369066:M86T;ENSP00000437953:M86T	ENSP00000369066:M86T	M	-	2	0	POSTN	37064263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.880000	0.92407	2.072000	0.62099	0.460000	0.39030	ATG		0.333	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		4	45	0	0	0	1	0	4	45					G	38166263	A	G	38166263	3	3	327	1	0	0	0	0	1	0	0	0	12259	217	8	3	2337	3	POSTN	13	38166263	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		38166263	77003615	17	5650											
PTPN21	11099	broad.mit.edu	37	14	88945377	88945377	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:88945377C>G	ENST00000556564.1	-	13	2682	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H	PTPN21_ENST00000328736.3_Missense_Mutation_p.D800H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	800					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						GTGGTGAGGTCGGACTCCGAC	0.647																																						uc001xwv.4																			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.(2398-2400)Gac>Cac		Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.							42	45	44					14																	88945377		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945377C>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2398G>C	14.37:g.88945377C>G	ENSP00000452414:p.Asp800His		Somatic				PTPN21_uc010twc.2_Missense_Mutation_p.D596H	p.D800H	NM_007039	NP_008970	WXS	Illumina GAIIx	Phase_I	Q16825	PTN21_HUMAN			12	2729	-			800						Missense_Mutation	SNP	ENST00000556564.1	37	c.2398G>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881837	0.72294	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.77620	-1.11;-1.11	5.55	5.55	0.83447	.	0.162484	0.53938	D	0.000053	D	0.88160	0.6362	M	0.72894	2.215	0.49915	D	0.999835	D	0.89917	1.0	D	0.91635	0.999	D	0.88831	0.3305	10	0.87932	D	0	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	800	Q16825	PTN21_HUMAN	H	800	ENSP00000330276:D800H;ENSP00000452414:D800H	ENSP00000330276:D800H	D	-	1	0	PTPN21	88015130	1.000000	0.71417	0.954000	0.39281	0.354000	0.29330	5.880000	0.69698	2.612000	0.88384	0.655000	0.94253	GAC		0.647	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	62	0	0	0	1	0	8	62					G	88945377	C	G	88945377	3	3	327	1	0	0	0	0	1	0	0	0	12786	884	31	4	1154	4	PTPN21	14	88945377	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		88945377	18404163	18	5651											
TRIP11	9321	broad.mit.edu	37	14	92471796	92471796	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:92471796C>T	ENST00000267622.4	-	11	2897	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	842					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAAAATTTCATTTTTTCTT	0.333			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.3				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2524-2526)Gaa>Aaa		Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.							67	68	68					14																	92471796		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471796C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2524G>A	14.37:g.92471796C>T	ENSP00000267622:p.Glu842Lys		Somatic				TRIP11_uc010auf.2_Missense_Mutation_p.E578K	p.E842K	NM_004239	NP_004230	WXS	Illumina GAIIx	Phase_I	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	10	2898	-			842					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2524G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392923	0.42410	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06142	3.34	5.92	5.92	0.95590	.	0.423150	0.27245	N	0.020254	T	0.11836	0.0288	L	0.47716	1.5	0.41722	D	0.989517	P;B	0.52316	0.952;0.122	P;B	0.51055	0.657;0.045	T	0.02444	-1.1158	10	0.33940	T	0.23	.	13.1659	0.59571	0.0:0.9267:0.0:0.0733	.	578;842	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	842;578	ENSP00000267622:E842K	ENSP00000267622:E842K	E	-	1	0	TRIP11	91541549	0.819000	0.29175	0.398000	0.26321	0.814000	0.46013	1.929000	0.40114	2.809000	0.96659	0.467000	0.42956	GAA		0.333	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	74	0	0	0	1	0	5	74					T	92471796	C	T	92471796	3	4	327	1	0	0	0	0	1	0	0	0	16552	835	29	2	3459	2	TRIP11	14	92471796	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	3526419	92471796	14877744	19	5652											
UBN1	29855	broad.mit.edu	37	16	4924499	4924499	+	Silent	SNP	T	T	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:4924499T>G	ENST00000396658.4	+	14	2791	c.2088T>G	c.(2086-2088)ccT>ccG	p.P696P	UBN1_ENST00000262376.6_Silent_p.P696P|UBN1_ENST00000545171.1_Silent_p.P696P|UBN1_ENST00000590769.1_Silent_p.P696P	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	696					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCACACTGCCTGCACCCTCAA	0.498																																						uc002cyb.3																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2086-2088)ccT>ccG		Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.							122	132	128					16																	4924499		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924499T>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2088T>G	16.37:g.4924499T>G			Somatic				UBN1_uc010uxw.2_Silent_p.P696P|UBN1_uc002cyc.3_Silent_p.P696P	p.P696P	NM_001079514	NP_058632	WXS	Illumina GAIIx	Phase_I	Q9NPG3	UBN1_HUMAN			14	2427	+			696					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.2088T>G	CCDS10525.1																																																																																				0.498	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		26	266	0	0	0	1	0	26	266					G	4924499	T	G	4924499	2	3	327	1	0	0	0	0	0	0	0	1	16889	1567	55	5		5	UBN1	16	4924499	Silent	SNP	T	TCGA-ET-A3BV-01A-11D-A19J-08		4924499	85430254	20	5653											
SRCAP	10847	broad.mit.edu	37	16	30744989	30744989	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:30744989G>A	ENST00000262518.4	+	29	6749	c.6364G>A	c.(6364-6366)Ggt>Agt	p.G2122S	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1964S|SRCAP_ENST00000395059.2_Missense_Mutation_p.G2060S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2122	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGGAGTGGGGGTGTGGGCGT	0.502																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6364-6366)Ggt>Agt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							106	104	105					16																	30744989		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30744989G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6364G>A	16.37:g.30744989G>A	ENSP00000262518:p.Gly2122Ser		Somatic				SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.G1917S	p.G2122S	NM_006662	NP_006653	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		28	6749	+			2122			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6364G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354773	0.61293	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93547	-3.24;-3.24;-3.24	5.25	5.25	0.73442	Helicase, C-terminal (3);	0.000000	0.50627	D	0.000111	D	0.95595	0.8568	L	0.49256	1.55	0.48975	D	0.999738	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95621	0.8681	10	0.62326	D	0.03	-11.0033	17.7742	0.88502	0.0:0.0:1.0:0.0	.	2060;2122	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2122;2060;1964	ENSP00000262518:G2122S;ENSP00000378499:G2060S;ENSP00000343042:G1964S	ENSP00000262518:G2122S	G	+	1	0	SRCAP	30652490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.548000	0.60718	2.724000	0.93272	0.655000	0.94253	GGT		0.502	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	114	0	0	0	1	0	10	114					A	30744989	G	A	30744989	3	1	327	1	0	0	0	0	1	0	0	0	15134	1232	43	2	6470	2	SRCAP	16	30744989	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	25820490	30744989	59609764	21	5654											
VMO1	284013	broad.mit.edu	37	17	4689488	4689488	+	Missense_Mutation	SNP	G	G	A	rs147226483		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:4689488G>A	ENST00000328739.5	-	1	239	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	VMO1_ENST00000354194.4_Missense_Mutation_p.P54S|VMO1_ENST00000416307.2_Missense_Mutation_p.P54S|VMO1_ENST00000441199.2_Missense_Mutation_p.P54S|GLTPD2_ENST00000331264.7_5'Flank	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	54						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						AATCCATCGGGACACATCTCA	0.622																																						uc002fyx.3																			0				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						c.(160-162)Ccc>Tcc		Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA.		G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	74	79	77		160,160,160,160	5.6	1.0	17	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense,missense,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	74,74,74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/115,54/103,54/71,54/203	4689488	1,13005	2203	4300	6503	SO:0001583	missense	284013				vitelline membrane formation	extracellular region		g.chr17:4689488G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.160C>T	17.37:g.4689488G>A	ENSP00000328397:p.Pro54Ser		Somatic				VMO1_uc010vsh.2_Missense_Mutation_p.P54S|VMO1_uc010vsi.2_Missense_Mutation_p.P54S|VMO1_uc002fyy.3_Missense_Mutation_p.P54S|GLTPD2_uc002fza.2_5'Flank	p.P54S	NM_182566	NP_872372	WXS	Illumina GAIIx	Phase_I	Q7Z5L0	VMO1_HUMAN			0	242	-			54					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	c.160C>T	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006207	0.74932	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000354194;ENST00000441199	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.57	5.57	0.84162	.	0.055158	0.64402	D	0.000001	D	0.84826	0.5558	M	0.83012	2.62	0.45415	D	0.998392	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	D;D;D;D	0.97110	0.914;1.0;1.0;1.0	D	0.86162	0.1594	10	0.59425	D	0.04	-11.6177	15.0483	0.71844	0.0:0.0:1.0:0.0	.	54;54;54;54	C9JQ15;E9PAU9;E9PGP4;Q7Z5L0	.;.;.;VMO1_HUMAN	S	54	ENSP00000328397:P54S;ENSP00000390450:P54S;ENSP00000346133:P54S;ENSP00000408166:P54S	ENSP00000328397:P54S	P	-	1	0	VMO1	4636228	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	6.559000	0.73946	2.627000	0.88993	0.563000	0.77884	CCC		0.622	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		8	32	0	0	0	1	0	8	32					A	4689488	G	A	4689488	3	1	327	1	0	0	0	0	1	0	0	0	17174	1174	41	2	494	2	VMO1	17	4689488	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08		4689488	76505722	22	5655											
RAPGEFL1	51195	broad.mit.edu	37	17	38345558	38345558	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:38345558C>G	ENST00000456989.2	+	6	638	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.L143V|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.L143V|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.L192V|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	349					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GACGGAGAAACTTCAATATTC	0.552																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(427-429)Ctt>Gtt		Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.							155	158	157					17																	38345558		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38345558C>G	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.592C>G	17.37:g.38345558C>G	ENSP00000394530:p.Leu198Val		Somatic				RAPGEFL1_uc010wfd.1_Missense_Mutation_p.L79V	p.L143V	NM_016339	NP_057423	WXS	Illumina GAIIx	Phase_I	Q9UHV5	RPGFL_HUMAN			5	917	+			349						Missense_Mutation	SNP	ENST00000456989.2	37	c.427C>G		.	.	.	.	.	.	.	.	.	.	C	16.76	3.212120	0.58452	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.27	3.07	0.35406	Ras guanine nucleotide exchange factor, domain (1);	0.184756	0.35805	N	0.002965	T	0.41858	0.1177	L	0.57536	1.79	0.54753	D	0.999985	B;B	0.16396	0.017;0.014	B;B	0.27380	0.079;0.03	T	0.35919	-0.9769	10	0.54805	T	0.06	.	12.7317	0.57201	0.0:0.9077:0.0:0.0923	.	79;349	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	V	198;143;192;143;348;143	ENSP00000394530:L198V;ENSP00000440226:L143V;ENSP00000438631:L192V;ENSP00000408322:L143V	ENSP00000264644:L348V	L	+	1	0	RAPGEFL1	35599084	0.978000	0.34361	0.980000	0.43619	0.942000	0.58702	0.990000	0.29642	0.596000	0.29794	0.655000	0.94253	CTT		0.552	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		54	185	0	0	0	1	0	54	185					G	38345558	C	G	38345558	3	3	327	1	0	0	0	0	1	0	0	0	13049	565	20	4	441	4	RAPGEFL1	17	38345558	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	33656070	38345558	42849652	23	5656											
SPAG9	9043	broad.mit.edu	37	17	49052246	49052246	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:49052246C>G	ENST00000262013.7	-	28	3794	c.3586G>C	c.(3586-3588)Gaa>Caa	p.E1196Q	SPAG9_ENST00000510283.1_Missense_Mutation_p.E1052Q|SPAG9_ENST00000505279.1_Missense_Mutation_p.E1186Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E1182Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1196					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCACTGTTTTCATCACCATAT	0.418																																						uc002itc.3																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3586-3588)Gaa>Caa		Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.							138	122	127					17																	49052246		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49052246C>G	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3586G>C	17.37:g.49052246C>G	ENSP00000262013:p.Glu1196Gln		Somatic				SPAG9_uc002itd.3_Missense_Mutation_p.E1186Q|SPAG9_uc002itb.3_Missense_Mutation_p.E1182Q|SPAG9_uc002ita.3_Missense_Mutation_p.E1052Q	p.E1196Q	NM_001130528	NP_001124000	WXS	Illumina GAIIx	Phase_I	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		27	3795	-			1196					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3586G>C	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583818	0.46006	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.24151	1.88;1.87;1.88;1.89	5.87	5.87	0.94306	.	0.096682	0.64402	D	0.000001	T	0.37348	0.1000	L	0.53249	1.67	0.58432	D	0.999999	B;P;P;P	0.52692	0.165;0.955;0.911;0.93	B;P;P;P	0.49999	0.234;0.616;0.628;0.533	T	0.00936	-1.1508	10	0.22109	T	0.4	-24.6956	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1186;1196;1182;1052	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	Q	1196;953;943;1052;1186;1182;794	ENSP00000262013:E1196Q;ENSP00000423165:E1052Q;ENSP00000426900:E1186Q;ENSP00000349636:E1182Q	ENSP00000262013:E1196Q	E	-	1	0	SPAG9	46407245	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	GAA		0.418	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		5	61	0	0	0	1	0	5	61					G	49052246	C	G	49052246	3	3	327	1	0	0	0	0	1	0	0	0	14985	835	29	4	391	4	SPAG9	17	49052246	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	10706688	49052246	32142964	24	5657											
OTOP3	347741	broad.mit.edu	37	17	72938090	72938090	+	Silent	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:72938090C>T	ENST00000328801.4	+	3	585	c.585C>T	c.(583-585)gaC>gaT	p.D195D		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	195						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CACAGCTGGACCTTGTCTTCT	0.567																																						uc010wrr.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(583-585)gaC>gaT		Homo sapiens otopetrin 3 (OTOP3), mRNA.							150	111	124					17																	72938090		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72938090C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.585C>T	17.37:g.72938090C>T			Somatic				OTOP3_uc010wrq.2_Silent_p.D177D	p.D195D	NM_178233	NP_839947	WXS	Illumina GAIIx	Phase_I	Q7RTS5	OTOP3_HUMAN			2	585	+	all_lung(278;0.151)|Lung NSC(278;0.185)		195						Silent	SNP	ENST00000328801.4	37	c.585C>T	CCDS11709.1																																																																																				0.567	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		4	41	0	0	0	1	0	4	41					T	72938090	C	T	72938090	2	4	327	1	0	0	0	0	0	0	0	1	11307	506	18	2		2	OTOP3	17	72938090	Silent	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	23885844	72938090	8257120	25	5658											
MGAT5B	146664	broad.mit.edu	37	17	74869018	74869018	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:74869018G>A	ENST00000569840.2	+	2	728	c.154G>A	c.(154-156)Gac>Aac	p.D52N	MGAT5B_ENST00000428789.2_Missense_Mutation_p.D63N|MGAT5B_ENST00000565675.1_Missense_Mutation_p.D52N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D52N|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	52					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCCTGGGGGACTCGCCATT	0.602																																						uc002jti.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(187-189)Gac>Aac		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.							55	57	56					17																	74869018		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74869018G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.154G>A	17.37:g.74869018G>A	ENSP00000456037:p.Asp52Asn		Somatic				MGAT5B_uc002jtg.4_Missense_Mutation_p.D52N|MGAT5B_uc002jth.3_Missense_Mutation_p.D52N	p.D63N	NM_198955	NP_945193	WXS	Illumina GAIIx	Phase_I	Q3V5L5	MGT5B_HUMAN			0	290	+			52					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.187G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480201	0.96307	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.57436	0.42;0.4	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.51422	1.61	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70714	-0.4796	10	0.87932	D	0	-32.4805	15.2078	0.73192	0.0:0.0:1.0:0.0	.	63;52	Q3V5L5-2;Q3V5L5-5	.;.	N	52;52;63	ENSP00000301618:D52N;ENSP00000391227:D63N	ENSP00000301618:D52N	D	+	1	0	MGAT5B	72380613	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.990000	0.93510	2.193000	0.70182	0.655000	0.94253	GAC		0.602	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		16	78	0	0	0	1	0	16	78					A	74869018	G	A	74869018	3	1	327	1	0	0	0	0	1	0	0	0	9549	1174	41	2	261	2	MGAT5B	17	74869018	Missense_Mutation	SNP	G	TCGA-ET-A3BV-01A-11D-A19J-08	1930928	74869018	6326192	26	5659											
CTDP1	9150	broad.mit.edu	37	18	77474796	77474796	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr18:77474796A>G	ENST00000299543.7	+	8	1483	c.1336A>G	c.(1336-1338)Acg>Gcg	p.T446A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T446A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	446					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCAGGGTGCCACGGGCACTGA	0.677																																						uc002lnh.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(1336-1338)Acg>Gcg		Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.							10	12	11					18																	77474796		2176	4267	6443	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77474796A>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1336A>G	18.37:g.77474796A>G	ENSP00000299543:p.Thr446Ala		Somatic				CTDP1_uc002lni.2_Missense_Mutation_p.T446A|CTDP1_uc010drd.2_Missense_Mutation_p.T446A|CTDP1_uc021ult.1_Missense_Mutation_p.T327A	p.T446A	NM_004715	NP_001189433	WXS	Illumina GAIIx	Phase_I	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	7	1483	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	446					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.1336A>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	0.624	-0.820016	0.02755	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.08546	3.13;3.08	4.42	-3.98	0.04082	.	0.782790	0.12310	N	0.480294	T	0.01800	0.0057	N	0.01729	-0.75	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	0.39502	-0.9611	10	0.02654	T	1	-4.5525	3.4594	0.07527	0.2154:0.1608:0.5107:0.1131	.	327;446;446	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	A	446	ENSP00000299543:T446A;ENSP00000075430:T446A	ENSP00000075430:T446A	T	+	1	0	CTDP1	75575784	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.347000	0.07750	-0.862000	0.04089	-0.445000	0.05633	ACG		0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		4	8	0	0	0	1	0	4	8					G	77474796	A	G	77474796	3	3	327	1	0	0	0	0	1	0	0	0	4002	159	6	3	1366	3	CTDP1	18	77474796	Missense_Mutation	SNP	A	TCGA-ET-A3BV-01A-11D-A19J-08		77474796	602452	27	5660											
THEG	51298	broad.mit.edu	37	19	371211	371211	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:371211C>T	ENST00000342640.4	-	6	789	c.747G>A	c.(745-747)atG>atA	p.M249I	THEG_ENST00000346878.2_Missense_Mutation_p.M225I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	249					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCACCTCAGACATGGGCATGC	0.642																																						uc002lol.3																			0		p.P248L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(745-747)atG>atA		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							86	85	85					19																	371211		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371211C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.747G>A	19.37:g.371211C>T	ENSP00000340088:p.Met249Ile		Somatic				THEG_uc002lom.3_Missense_Mutation_p.M225I	p.M249I	NM_016585	NP_057669	WXS	Illumina GAIIx	Phase_I	Q9P2T0	THEG_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	790	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	249					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.747G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119208	0.20877	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.28895	1.59;1.59	4.11	2.98	0.34508	.	1.346520	0.04701	N	0.415893	T	0.37945	0.1022	L	0.57536	1.79	0.27025	N	0.964376	B;P	0.38440	0.4;0.631	B;B	0.42851	0.233;0.4	T	0.34153	-0.9840	10	0.49607	T	0.09	-17.3161	8.542	0.33399	0.2305:0.7695:0.0:0.0	.	225;249	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	I	249;225	ENSP00000340088:M249I;ENSP00000264820:M225I	ENSP00000340088:M249I	M	-	3	0	THEG	322211	0.988000	0.35896	0.985000	0.45067	0.349000	0.29174	1.502000	0.35704	2.283000	0.76528	0.655000	0.94253	ATG		0.642	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			26	147	0	0	0	1	0	26	147					T	371211	C	T	371211	3	4	327	1	0	0	0	0	1	0	0	0	15854	478	17	2	404	2	THEG	19	371211	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08		371211	58757772	28	5661											
ZNF461	92283	broad.mit.edu	37	19	37129608	37129608	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37129608C>T	ENST00000588268.1	-	6	1866	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	ZNF461_ENST00000360357.4_Missense_Mutation_p.E524K|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	547					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)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACTGGCTTCTCGCCAGTATGA	0.383																																						uc002oem.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(1639-1641)Gag>Aag		Homo sapiens zinc finger protein 461 (ZNF461), mRNA.							50	52	52					19																	37129608		1968	4174	6142	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129608C>T	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1639G>A	19.37:g.37129608C>T	ENSP00000467931:p.Glu547Lys		Somatic				ZNF461_uc002oen.3_Missense_Mutation_p.E516K|ZNF461_uc010xtj.2_Missense_Mutation_p.E524K	p.E547K	NM_153257	NP_694989	WXS	Illumina GAIIx	Phase_I	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1867	-	Esophageal squamous(110;0.198)		547					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1639G>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853518	0.51270	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.19806	2.12	3.17	0.906	0.19314	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	L	0.50919	1.6	0.26645	N	0.972209	B;B;B	0.22746	0.043;0.007;0.074	B;B;B	0.11329	0.006;0.003;0.006	T	0.20840	-1.0263	9	0.66056	D	0.02	.	6.6439	0.22925	0.0:0.7539:0.0:0.2461	.	524;469;547	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	K	547;524;420;241	ENSP00000353515:E524K	ENSP00000353515:E524K	E	-	1	0	ZNF461	41821448	0.995000	0.38212	0.004000	0.12327	0.193000	0.23685	1.659000	0.37387	0.175000	0.19841	0.491000	0.48974	GAG		0.383	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		3	27	0	0	0	1	0	3	27					T	37129608	C	T	37129608	3	4	327	1	0	0	0	0	1	0	0	0	17922	893	31	1	56	1	ZNF461	19	37129608	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	36758397	37129608	21999375	29	5662											
ZNF585B	92285	broad.mit.edu	37	19	37676134	37676134	+	Missense_Mutation	SNP	C	C	G	rs200913496		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37676134C>G	ENST00000532828.2	-	5	2556	c.2305G>C	c.(2305-2307)Gct>Cct	p.A769P	ZNF585B_ENST00000312908.5_Missense_Mutation_p.A357P|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.A714P	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	769					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCTCAAGCGTGGCTGCTC	0.448																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(2305-2307)Gct>Cct		Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.							116	105	109					19																	37676134		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676134C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2305G>C	19.37:g.37676134C>G	ENSP00000433773:p.Ala769Pro		Somatic				ZNF585B_uc002ofr.1_Missense_Mutation_p.A583P	p.A769P	NM_152279	NP_689492	WXS	Illumina GAIIx	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	2557	-			769					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2305G>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	9.943	1.217929	0.22373	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.09445	2.98;3.07;3.03	2.72	0.437	0.16555	Zinc finger, C2H2 (1);	0.407217	0.18093	N	0.151935	T	0.09024	0.0223	L	0.49699	1.58	0.22081	N	0.999374	B;B	0.31100	0.003;0.308	B;B	0.21546	0.001;0.035	T	0.15665	-1.0429	10	0.87932	D	0	.	7.2666	0.26234	0.0:0.25:0.0:0.75	.	714;769	E9PQH3;Q52M93	.;Z585B_HUMAN	P	714;769;357	ENSP00000436774:A714P;ENSP00000433773:A769P;ENSP00000442139:A357P	ENSP00000442139:A357P	A	-	1	0	ZNF585B	42367974	0.964000	0.33143	0.003000	0.11579	0.019000	0.09904	0.690000	0.25451	-0.529000	0.06358	-3.289000	0.00047	GCT		0.448	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		8	91	0	0	0	1	0	8	91					G	37676134	C	G	37676134	3	3	327	1	0	0	0	0	1	0	0	0	18015	768	27	4	8	4	ZNF585B	19	37676134	Missense_Mutation	SNP	C	TCGA-ET-A3BV-01A-11D-A19J-08	546526	37676134	21452849	30	5663											
TTN	7273	broad.mit.edu	37	2	179610555	179610555	+	Intron	SNP	A	A	G			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr2:179610555A>G	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000360870.5_Silent_p.Y5524Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATTGGTGCATAACAGTCAG	0.418																																						uc002unb.2																			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.(16570-16572)taT>taC		Homo sapiens titin (TTN), transcript variant novex-3, mRNA.							126	125	125					2																	179610555		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610555A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3907T>C	2.37:g.179610555A>G			Somatic				TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript	p.Y5524Y	NM_133379	NP_596870	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		45	16797	-			8994			Ig-like 36.		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.16572T>C																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	76	0	0	0	1	0	46	76					G	179610555	A	G	179610555	1	3	328	0	1	0	0	0	0	0	0	0	16732	224	8	3		3	TTN	2	179610555	Intron	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08		179610555	63588818	1	5664											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		41	39	0	0	0	1	0	41	39					T	140453136	A	T	140453136	3	4	328	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08		140453136	18685527	2	5665											
FGFR1	2260	broad.mit.edu	37	8	38287336	38287336	+	Silent	SNP	C	C	T			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr8:38287336C>T	ENST00000447712.2	-	3	1163	c.222G>A	c.(220-222)gcG>gcA	p.A74A	FGFR1_ENST00000335922.5_Silent_p.A66A|FGFR1_ENST00000397091.5_Silent_p.A74A|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397113.2_Silent_p.A74A|FGFR1_ENST00000532791.1_Silent_p.A74A|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397108.4_Silent_p.A74A|FGFR1_ENST00000425967.3_Silent_p.A107A|FGFR1_ENST00000341462.5_Silent_p.A74A|FGFR1_ENST00000326324.6_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	74	Ig-like C2-type 1.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGTTGCTTTCCGCCAGCTGCA	0.667		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	uc011lbu.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(319-321)gcG>gcA		Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 14, mRNA.	Palifermin(DB00039)						51	44	46					8																	38287336		2203	4300	6503	SO:0001819	synonymous_variant	2260				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38287336C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.222G>A	8.37:g.38287336C>T			Somatic				FGFR1_uc011lbv.2_Silent_p.A74A|FGFR1_uc011lbw.2_Intron|FGFR1_uc003xlp.3_Silent_p.A74A|FGFR1_uc022aub.1_Silent_p.A74A|FGFR1_uc022auc.1_Intron|FGFR1_uc022aud.1_Intron|FGFR1_uc010lwk.3_Silent_p.A66A|FGFR1_uc022aua.1_Silent_p.A74A|FGFR1_uc011lbr.2_5'Flank|FGFR1_uc011lbs.2_Intron|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbx.1_Intron|FGFR1_uc003xlv.3_Intron|FGFR1_uc003xlu.3_Intron|FGFR1_uc003xlw.1_Non-coding_Transcript	p.A107A	NM_001174067	NP_056934	WXS	Illumina GAIIx	Phase_I	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		3	644	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	74			Ig-like C2-type 1.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.321G>A	CCDS6107.2																																																																																				0.667	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	14	0	0	0	1	0	5	14					T	38287336	C	T	38287336	2	4	328	1	0	0	0	0	0	0	0	1	5863	639	23	1		1	FGFR1	8	38287336	Silent	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		38287336	108076686	3	5666											
HSPA5	3309	broad.mit.edu	37	9	127999360	127999360	+	Silent	SNP	A	A	C			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr9:127999360A>C	ENST00000324460.6	-	8	1679	c.1476T>G	c.(1474-1476)cgT>cgG	p.R492R		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	492					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GTGGGACCCCACGAGGAGCAG	0.423										Prostate(1;0.17)																												uc004bpn.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1474-1476)cgT>cgG		Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	Antihemophilic Factor(DB00025)						70	71	71					9																	127999360		2203	4296	6499	SO:0001819	synonymous_variant	3309				ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127999360A>C		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1476T>G	9.37:g.127999360A>C		Prostate(1;0.17)	Somatic					p.R492R	NM_005347	NP_005338	WXS	Illumina GAIIx	Phase_I	P11021	GRP78_HUMAN			7	1737	-			492					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.1476T>G	CCDS6863.1																																																																																				0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			15	96	0	0	0	1	0	15	96					C	127999360	A	C	127999360	2	2	328	1	0	0	0	0	0	0	0	1	7414	146	6	5		5	HSPA5	9	127999360	Silent	SNP	A	TCGA-ET-A3BW-01A-11D-A19J-08		127999360	13214071	4	5667											
PPM1D	8493	broad.mit.edu	37	17	58734159	58734159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr17:58734159delC	ENST00000305921.3	+	5	1449	c.1217delC	c.(1216-1218)accfs	p.T406fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	406					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGTCAAGAAACCTGTGTGATG	0.398																																						uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1216-1218)accfs		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.							128	117	121					17																	58734159		2203	4300	6503	SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58734159delC	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1217delC	17.37:g.58734159delC	ENSP00000306682:p.Thr406fs		Somatic				PPM1D_uc010ddm.2_Non-coding_Transcript	p.T406fs	NM_003620	NP_003611	WXS	Illumina GAIIx	Phase_I	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		4	1449	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		406					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1217delC	CCDS11625.1																																																																																				0.398	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		34	56						34	56	---	---	---	---	-	58734159	C	-	58734159	7	5	328	1	0	1	0	1	0	0	0	0	12337	507	18	0	1235	0	PPM1D	17	58734159	Frame_Shift_Del	DEL	C	TCGA-ET-A3BW-01A-11D-A19J-08		58734159	22461051	5	5668											
TPM4	7171	broad.mit.edu	37	19	16199868	16199868	+	Silent	SNP	C	C	T			TCGA-ET-A3BW-01A-11D-A19J-08	TCGA-ET-A3BW-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eb56ed7-8cea-4642-975b-97ec5ed2c779	799011ae-fecf-4a42-859b-e4b3ab935ffb	g.chr19:16199868C>T	ENST00000300933.4	+	5	729	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	TPM4_ENST00000344824.6_Silent_p.L193L|TPM4_ENST00000538887.1_Silent_p.L193L	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	157					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						ATGTGGTGACCTGGAAGAAGA	0.438			T	ALK	ALCL						OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndi.2				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(577-579)Ctg>Ttg		Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.							129	115	120					19																	16199868		2203	4300	6503	SO:0001819	synonymous_variant	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16199868C>T		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.469C>T	19.37:g.16199868C>T			Somatic	OREG0025329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708	TPM4_uc002ndj.2_Silent_p.L157L|TPM4_uc002ndk.1_Silent_p.L67L	p.L193L	NM_001145160	NP_001138632	WXS	Illumina GAIIx	Phase_I	P67936	TPM4_HUMAN			5	695	+			157					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Silent	SNP	ENST00000300933.4	37	c.577C>T	CCDS12338.1																																																																																				0.438	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		11	36	0	0	0	1	0	11	36					T	16199868	C	T	16199868	2	4	328	1	0	0	0	0	0	0	0	1	16405	680	24	2		2	TPM4	19	16199868	Silent	SNP	C	TCGA-ET-A3BW-01A-11D-A19J-08		16199868	42929115	6	5669											
VPS13D	55187	broad.mit.edu	37	1	12382678	12382678	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:12382678C>G	ENST00000358136.3	+	34	7920	c.7790C>G	c.(7789-7791)gCt>gGt	p.A2597G	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2597G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.A2597D(1)		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)		CCAGAGCAAGCTAATGCTGCA	0.473																																						uc001atv.3																			1	Substitution - Missense(1)	p.A2597D(2)	haematopoietic_and_lymphoid_tissue(1)	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.(7789-7791)gCt>gGt		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							135	125	129					1																	12382678		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12382678C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7790C>G	1.37:g.12382678C>G	ENSP00000350854:p.Ala2597Gly		Somatic				VPS13D_uc001atw.3_Missense_Mutation_p.A2597G|VPS13D_uc001atx.3_Missense_Mutation_p.A1785G|VPS13D_uc001aty.1_Missense_Mutation_p.A335G	p.A2597G	NM_015378	NP_056193	WXS	Illumina GAIIx	Phase_I	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)	33	7931	+	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)	2597						Missense_Mutation	SNP	ENST00000358136.3	37	c.7790C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.61|13.61	2.288692|2.288692	0.40494|0.40494	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.55930|.	0.49;0.49|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.352908|.	0.31370|.	N|.	0.007780|.	T|T	0.71384|0.71384	0.3333|0.3333	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;B;B|.	0.42871|.	0.792;0.002;0.001|.	B;B;B|.	0.37731|.	0.257;0.004;0.002|.	T|T	0.65849|0.65849	-0.6068|-0.6068	10|5	0.25751|.	T|.	0.34|.	.|.	20.1802|20.1802	0.98196|0.98196	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	504;2597;2597|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	G|V	2597|1420	ENSP00000348666:A2597G;ENSP00000350854:A2597G|.	ENSP00000348666:A2597G|.	A|L	+|+	2|1	0|2	VPS13D|VPS13D	12305265|12305265	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.243000|0.243000	0.25628|0.25628	4.726000|4.726000	0.61986|0.61986	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	GCT|CTA		0.473	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		29	49	0	0	0	1	0	29	49					G	12382678	C	G	12382678	3	3	329	1	0	0	0	0	1	0	0	0	17189	797	28	4	7920	4	VPS13D	1	12382678	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08		12382678	236867943	1	5670											
FLG2	388698	broad.mit.edu	37	1	152329145	152329145	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr1:152329145C>T	ENST00000388718.5	-	3	1189	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	373	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTTGAGCCTGTTCTCCAT	0.468																																						uc001ezw.4																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1117-1119)Ggc>Agc		Homo sapiens filaggrin family member 2 (FLG2), mRNA.							140	128	132					1																	152329145		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329145C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1117G>A	1.37:g.152329145C>T	ENSP00000373370:p.Gly373Ser		Somatic				AK056431_uc001ezv.3_Intron	p.G373S	NM_001014342	NP_001014364	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1190	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		373			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1117G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.773	0.926345	0.18056	.	.	ENSG00000143520	ENST00000388718	T	0.17213	2.29	5.24	-2.29	0.06805	.	.	.	.	.	T	0.07234	0.0183	M	0.61703	1.905	0.09310	N	1	D	0.53312	0.959	B	0.43623	0.425	T	0.30650	-0.9971	9	0.27785	T	0.31	-1.3361	10.0467	0.42190	0.0:0.4283:0.0:0.5717	.	373	Q5D862	FILA2_HUMAN	S	373	ENSP00000373370:G373S	ENSP00000373370:G373S	G	-	1	0	FLG2	150595769	0.972000	0.33761	0.000000	0.03702	0.132000	0.20833	0.004000	0.13106	-0.324000	0.08589	0.655000	0.94253	GGC		0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		34	52	0	0	0	1	0	34	52					T	152329145	C	T	152329145	3	4	329	1	0	0	0	0	1	0	0	0	5923	681	24	2	6062	2	FLG2	1	152329145	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08	139946467	152329145	96921476	2	5671											
MOBKL1B	55233	broad.mit.edu	37	2	74392437	74392437	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr2:74392437G>A	ENST00000396049.4	-	4	510	c.317C>T	c.(316-318)cCa>cTa	p.P106L	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.P106L	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	106					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										ACATTTGATTGGCTTTTTAAT	0.303																																						uc002skh.4																			0											c.(316-318)cCa>cTa		Homo sapiens MOB kinase activator 1A (MOB1A), mRNA.							74	70	71					2																	74392437		1824	4077	5901	SO:0001583	missense	55233				hippo signaling cascade		metal ion binding|protein binding	g.chr2:74392437G>A		CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"MOB kinase activators"	16015	protein-coding gene	gene with protein product		609281	"chromosome 2 open reading frame 6", "MOB1, Mps One Binder kinase activator-like 1B (yeast)", "MOB1 Mps One Binder homolog A (yeast)"	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.317C>T	2.37:g.74392437G>A	ENSP00000379364:p.Pro106Leu		Somatic				MOB1A_uc002ski.2_Missense_Mutation_p.P106L	p.P106L	NM_018221	NP_060691	WXS	Illumina GAIIx	Phase_I	Q9H8S9	MOL1B_HUMAN			3	511	-			106					Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	c.317C>T	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202248	0.94997	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.92077	3.27	0.80722	D	1	D;D	0.63880	0.993;0.972	D;P	0.64042	0.921;0.858	D	0.88319	0.2961	9	0.87932	D	0	.	16.2862	0.82722	0.0:0.0:1.0:0.0	.	106;106	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	L	106	.	ENSP00000379364:P106L	P	-	2	0	MOBKL1B	74245945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.482000	0.97935	2.697000	0.92050	0.563000	0.77884	CCA		0.303	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2	NM_018221		5	9	0	0	0	1	0	5	9					A	74392437	G	A	74392437	3	1	329	1	0	0	0	0	1	0	0	0	9683	1348	47	2	345	2	MOBKL1B	2	74392437	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08		74392437	168806936	3	5672											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	37	0	0	0	1	0	26	37					T	140453136	A	T	140453136	3	4	329	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3BX-01A-11D-A19J-08		140453136	18685527	4	5673											
CTAGE5	4253	broad.mit.edu	37	14	39763206	39763206	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr14:39763206G>A	ENST00000280083.3	+	7	812	c.498G>A	c.(496-498)atG>atA	p.M166I	CTAGE5_ENST00000341502.5_Missense_Mutation_p.M166I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.M166I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.M171I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.M86I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.M137I|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.M701I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.M137I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.M137I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.M91I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.M154I			O15320	CTGE5_HUMAN	CTAGE family, member 5	166					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GTTTCTAGATGGCGGATATTT	0.343																																						uc001wvi.4																		CTAGE5/SIP1(2)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(511-513)atG>atA		Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.							113	121	118					14																	39763206		2203	4297	6500	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39763206G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.498G>A	14.37:g.39763206G>A	ENSP00000280083:p.Met166Ile		Somatic				CTAGE5_uc010tqe.1_Missense_Mutation_p.M128I|CTAGE5_uc001wuy.4_Missense_Mutation_p.M86I|CTAGE5_uc001wuz.4_Missense_Mutation_p.M154I|CTAGE5_uc001wva.4_Missense_Mutation_p.M137I|CTAGE5_uc001wvb.4_Missense_Mutation_p.M137I|CTAGE5_uc001wvc.4_Missense_Mutation_p.M111I|CTAGE5_uc001wve.1_Missense_Mutation_p.M142I|CTAGE5_uc001wvf.4_Missense_Mutation_p.M91I|CTAGE5_uc001wvg.4_Missense_Mutation_p.M166I|CTAGE5_uc001wvh.4_Missense_Mutation_p.M166I|CTAGE5_uc010amz.3_5'UTR|CTAGE5_uc001wvj.4_Missense_Mutation_p.M137I	p.M171I	NM_001247989	NP_001234918	WXS	Illumina GAIIx	Phase_I	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	6	849	+	Hepatocellular(127;0.213)		166					B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.513G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612936	0.14066	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000555716;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.15	2.22	0.28083	.	0.175198	0.27581	N	0.018733	T	0.24509	0.0594	L	0.53249	1.67	0.24630	N	0.993626	P;P;B;P;B;P	0.41345	0.746;0.58;0.346;0.58;0.346;0.58	B;B;B;B;B;B	0.43658	0.426;0.26;0.166;0.26;0.166;0.26	T	0.06534	-1.0821	9	.	.	.	.	5.967	0.19330	0.175:0.1591:0.6659:0.0	.	128;171;166;166;137;154	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	I	701;128;154;86;128;137;166;171;166;91;166;137	ENSP00000452252:M701I;ENSP00000452395:M128I;ENSP00000343897:M154I;ENSP00000450869:M86I;ENSP00000379468:M137I;ENSP00000339286:M166I;ENSP00000379462:M171I;ENSP00000280083:M166I;ENSP00000452562:M91I;ENSP00000343912:M166I;ENSP00000450449:M137I	.	M	+	3	0	CTAGE5;RP11-407N17.3	38832957	0.678000	0.27586	0.628000	0.29241	0.327000	0.28475	0.655000	0.24933	0.639000	0.30564	0.455000	0.32223	ATG		0.343	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		44	59	0	0	0	1	0	44	59					A	39763206	G	A	39763206	3	1	329	1	0	0	0	0	1	0	0	0	3994	1348	47	2	555	2	CTAGE5	14	39763206	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08		39763206	67586334	5	5674											
CACNA1G	8913	broad.mit.edu	37	17	48653257	48653257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr17:48653257delC	ENST00000359106.5	+	8	1494	c.1494delC	c.(1492-1494)cacfs	p.H504fs	CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.H504fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.H504fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGcaccaccaccaccaccatc	0.706																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1492-1494)cacfs		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						10	17	15					17																	48653257		2059	4192	6251	SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653257delC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1494delC	17.37:g.48653257delC	ENSP00000352011:p.His504fs		Somatic				CACNA1G_uc002iri.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irj.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irl.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irm.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irn.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002iro.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irp.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irq.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irr.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irs.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irt.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002iru.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irv.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irw.1_Frame_Shift_Del_p.H498fs|CACNA1G_uc002irx.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002iry.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isg.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002ish.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isi.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002irz.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isa.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isd.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isb.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isc.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002ise.1_Frame_Shift_Del_p.H411fs|CACNA1G_uc002isf.1_Frame_Shift_Del_p.H411fs	p.H498fs	NM_018896	NP_061496	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		7	1866	+	Breast(11;6.7e-17)		498			Poly-His.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	ENST00000359106.5	37	c.1494delC	CCDS45730.1																																																																																				0.706	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		2	4						2	4	---	---	---	---	-	48653257	C	-	48653257	7	5	329	1	0	1	0	1	0	0	0	0	2544	506	18	0	1524	0	CACNA1G	17	48653257	Frame_Shift_Del	DEL	C	TCGA-ET-A3BX-01A-11D-A19J-08		48653257	32541953	6	5675											
TRAPPC5	126003	broad.mit.edu	37	19	7747624	7747624	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:7747624C>G	ENST00000317378.5	+	2	672	c.485C>G	c.(484-486)gCg>gGg	p.A162G	TRAPPC5_ENST00000426877.2_Missense_Mutation_p.A162G|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.A95G|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.A162G|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	162					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						AAGGTCACGGCGCACTGGCAC	0.652																																						uc002mhi.1																			0				NS(1)|lung(2)	3						c.(484-486)gCg>gGg		Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA.							24	29	28					19																	7747624		2178	4265	6443	SO:0001583	missense	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747624C>G	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"Trafficking protein particle complex"	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.485C>G	19.37:g.7747624C>G	ENSP00000316990:p.Ala162Gly		Somatic				TRAPPC5_uc002mhj.1_Missense_Mutation_p.A162G|TRAPPC5_uc002mhk.1_Missense_Mutation_p.A162G|TRAPPC5_uc021unw.1_Missense_Mutation_p.A162G	p.A162G	NM_001042462	NP_777554	WXS	Illumina GAIIx	Phase_I	Q8IUR0	TPPC5_HUMAN			1	555	+			162					A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	37	c.485C>G	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890770	0.52014	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.55052	0.54;0.54	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.149693	0.43416	U	0.000578	T	0.62429	0.2427	M	0.89030	3	0.47621	D	0.999477	B	0.31054	0.306	B	0.36378	0.223	T	0.70371	-0.4890	10	0.72032	D	0.01	-1.7404	13.4726	0.61290	0.0:1.0:0.0:0.0	.	162	Q8IUR0	TPPC5_HUMAN	G	162	ENSP00000316990:A162G;ENSP00000399025:A162G	ENSP00000316990:A162G	A	+	2	0	TRAPPC5	7653624	0.954000	0.32549	0.999000	0.59377	0.963000	0.63663	2.074000	0.41529	1.767000	0.52121	0.306000	0.20318	GCG		0.652	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		6	6	0	0	0	1	0	6	6					G	7747624	C	G	7747624	3	3	329	1	0	0	0	0	1	0	0	0	16459	768	27	4	487	4	TRAPPC5	19	7747624	Missense_Mutation	SNP	C	TCGA-ET-A3BX-01A-11D-A19J-08		7747624	51381359	7	5676											
SPTBN4	57731	broad.mit.edu	37	19	41021270	41021270	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr19:41021270G>A	ENST00000352632.3	+	15	2904	c.2818G>A	c.(2818-2820)Gtg>Atg	p.V940M	SPTBN4_ENST00000344104.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V940M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V940M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V940M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	940					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)			CGTTCTGGACGTGAACCACAC	0.612																																						uc002ony.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.(2818-2820)Gtg>Atg		Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.							53	39	44					19																	41021270		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41021270G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2818G>A	19.37:g.41021270G>A	ENSP00000263373:p.Val940Met		Somatic				SPTBN4_uc002onx.3_Missense_Mutation_p.V940M|SPTBN4_uc002onz.3_Missense_Mutation_p.V940M|SPTBN4_uc010egx.3_5'UTR	p.V940M	NM_020971	NP_066022	WXS	Illumina GAIIx	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	2904	+			940					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.2818G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358446	0.82243	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.54866	0.55;0.55;0.55	4.34	4.34	0.51931	.	0.240484	0.26723	N	0.022825	T	0.74306	0.3699	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.979;0.999	T	0.79401	-0.1819	10	0.72032	D	0.01	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	940;940	Q9H254;Q71S06	SPTN4_HUMAN;.	M	940	ENSP00000263373:V940M;ENSP00000340345:V940M;ENSP00000340741:V940M	ENSP00000340345:V940M	V	+	1	0	SPTBN4	45713110	1.000000	0.71417	0.996000	0.52242	0.841000	0.47740	6.526000	0.73799	2.256000	0.74724	0.491000	0.48974	GTG		0.612	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	14	0	0	0	1	0	3	14					A	41021270	G	A	41021270	3	1	329	1	0	0	0	0	1	0	0	0	15120	1145	40	1	2872	1	SPTBN4	19	41021270	Missense_Mutation	SNP	G	TCGA-ET-A3BX-01A-11D-A19J-08	33273646	41021270	18107713	8	5677											
UPK3A	7380	broad.mit.edu	37	22	45691583	45691583	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BX-01A-11D-A19J-08	TCGA-ET-A3BX-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81ac96ae-fa67-46a4-a969-cd269e0a45ea	b5eda881-51a0-4255-bd6a-bbb070d97793	g.chr22:45691583A>G	ENST00000216211.4	+	6	879	c.847A>G	c.(847-849)Agc>Ggc	p.S283G	UPK3A_ENST00000396082.2_Missense_Mutation_p.S162G	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	283					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGTGTATTCCAGCAAGCTCCA	0.637																																						uc003bfy.3																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(847-849)Agc>Ggc		Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.							37	36	37					22																	45691583		2203	4300	6503	SO:0001583	missense	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45691583A>G	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"uroplakin 3"	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.847A>G	22.37:g.45691583A>G	ENSP00000216211:p.Ser283Gly		Somatic				UPK3A_uc010gzy.3_Missense_Mutation_p.S162G	p.S283G	NM_006953	NP_008884	WXS	Illumina GAIIx	Phase_I	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	874	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	283					B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	c.847A>G	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345060	0.24426	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.84873	-0.34;-1.91	5.65	2.34	0.29019	.	0.459126	0.23742	N	0.045001	T	0.78572	0.4304	L	0.59912	1.85	0.28189	N	0.927829	B;B	0.12013	0.005;0.002	B;B	0.12156	0.007;0.005	T	0.64706	-0.6344	10	0.27785	T	0.31	-18.4111	6.2728	0.20963	0.6872:0.0:0.3128:0.0	.	162;283	O75631-2;O75631	.;UPK3A_HUMAN	G	283;162	ENSP00000216211:S283G;ENSP00000379391:S162G	ENSP00000216211:S283G	S	+	1	0	UPK3A	44070247	0.848000	0.29623	0.962000	0.40283	0.346000	0.29079	0.642000	0.24735	0.426000	0.26116	0.460000	0.39030	AGC		0.637	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		3	37	0	0	0	1	0	3	37					G	45691583	A	G	45691583	3	3	329	1	0	0	0	0	1	0	0	0	17007	188	7	3	869	3	UPK3A	22	45691583	Missense_Mutation	SNP	A	TCGA-ET-A3BX-01A-11D-A19J-08		45691583	5612983	9	5678											
TAS1R3	83756	broad.mit.edu	37	1	1269087	1269087	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:1269087C>T	ENST00000339381.5	+	6	1834	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	601					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CTGGTTCAGGCCTCGGGGGGG	0.692																																						uc010nyk.2																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1801-1803)gCc>gTc		Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	Aspartame(DB00168)						25	34	31					1																	1269087		2192	4292	6484	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269087C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1802C>T	1.37:g.1269087C>T	ENSP00000344411:p.Ala601Val		Somatic					p.A601V	NM_152228	NP_689414	WXS	Illumina GAIIx	Phase_I	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	5	1802	+	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)	601					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1802C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673671	0.47781	.	.	ENSG00000169962	ENST00000339381	D	0.89810	-2.57	4.2	4.2	0.49525	GPCR, family 3, C-terminal (2);	0.063428	0.64402	D	0.000005	D	0.94125	0.8116	M	0.86420	2.815	0.32213	N	0.576243	D	0.89917	1.0	D	0.79108	0.992	D	0.94208	0.7456	10	0.62326	D	0.03	.	10.6728	0.45768	0.0:0.9072:0.0:0.0928	.	601	Q7RTX0	TS1R3_HUMAN	V	601	ENSP00000344411:A601V	ENSP00000344411:A601V	A	+	2	0	TAS1R3	1258950	0.994000	0.37717	0.463000	0.27130	0.069000	0.16628	2.894000	0.48640	2.201000	0.70794	0.400000	0.26472	GCC		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			3	13	0	0	0	1	0	3	13					T	1269087	C	T	1269087	3	4	330	1	0	0	0	0	1	0	0	0	15561	739	26	2	1824	2	TAS1R3	1	1269087	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		1269087	247981534	1	5679											
C1orf213	80818	broad.mit.edu	37	1	23696056	23696056	+	5'Flank	SNP	T	T	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:23696056T>A	ENST00000314011.4	-	0	0				C1orf213_ENST00000335648.3_Missense_Mutation_p.L89Q|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron|Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000437367.2_Intron|C1orf213_ENST00000454117.1_Intron|ZNF436_ENST00000374608.3_5'Flank	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TATCGTAGGCTGATCCTAAAG	0.567																																						uc001bgw.3																			0				kidney(1)	1						c.(265-267)cTg>cAg		Homo sapiens chromosome 1 open reading frame 213 (C1orf213), transcript variant 1, non-coding RNA.							64	65	65					1																	23696056		2203	4300	6503	SO:0001631	upstream_gene_variant	148898							g.chr1:23696056T>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232		1.37:g.23696056T>A	Exception_encountered		Somatic				ZNF436_uc001bgt.3_5'Flank|ZNF436_uc001bgu.3_5'UTR|C1orf213_uc021oif.1_Intron	p.L89Q			WXS	Illumina GAIIx	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|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)	0	593	+		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)						Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.266T>A	CCDS233.1	.	.	.	.	.	.	.	.	.	.	T	6.528	0.465686	0.12402	.	.	ENSG00000249087	ENST00000335648	.	.	.	3.17	-3.2	0.05156	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.28235	-1.0050	7	0.87932	D	0	.	1.0469	0.01571	0.278:0.1176:0.3749:0.2295	.	89	Q8NC38	CA213_HUMAN	Q	89	.	ENSP00000441287:L89Q	L	+	2	0	C1orf213	23568643	0.008000	0.16893	0.000000	0.03702	0.028000	0.11728	-0.210000	0.09345	-0.745000	0.04772	-0.757000	0.03467	CTG		0.567	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		13	35	0	0	0	1	0	13	35					A	23696056	T	A	23696056	1	1	330	0	1	0	0	0	0	0	0	0	2030	1580	55	5		5	C1orf213	1	23696056	5'Flank	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08	22426969	23696056	225554565	2	5680											
SLFNL1	200172	broad.mit.edu	37	1	41486324	41486324	+	Silent	SNP	G	G	C	rs537062084		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:41486324G>C	ENST00000359345.1	-	1	2585	c.9C>G	c.(7-9)ccC>ccG	p.P3P	SLFNL1_ENST00000372611.1_Silent_p.P3P|SLFNL1_ENST00000397197.2_Silent_p.P3P|SLFNL1_ENST00000372613.2_Silent_p.P3P|SLFNL1_ENST00000302946.8_Silent_p.P3P|SLFNL1_ENST00000439569.2_Silent_p.P3P	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	3							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ATCTCTTCATGGGGGTCATGG	0.602																																						uc009vwg.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(7-9)ccC>ccG		Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.							29	30	30					1																	41486324		2201	4299	6500	SO:0001819	synonymous_variant	200172						ATP binding	g.chr1:41486324G>C	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.9C>G	1.37:g.41486324G>C			Somatic				LOC100507178_uc021omd.1_Intron|SLFNL1_uc009vwf.1_Silent_p.P3P|SLFNL1_uc001cgn.2_Silent_p.P3P|SLFNL1_uc001cgm.2_Silent_p.P3P	p.P3P	NM_001168247	NP_659427	WXS	Illumina GAIIx	Phase_I	Q499Z3	SLNL1_HUMAN			2	393	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	3					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	c.9C>G	CCDS460.1																																																																																				0.602	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		4	30	0	0	0	1	0	4	30					C	41486324	G	C	41486324	2	2	330	1	0	0	0	0	0	0	0	1	14738	1335	47	4		4	SLFNL1	1	41486324	Silent	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08	17790268	41486324	207764297	3	5681											
NFIA	4774	broad.mit.edu	37	1	61743213	61743213	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:61743213C>G	ENST00000403491.3	+	3	1065	c.581C>G	c.(580-582)cCc>cGc	p.P194R	NFIA_ENST00000371185.2_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.P194R|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000407417.3_Missense_Mutation_p.P186R|NFIA_ENST00000371191.1_Missense_Mutation_p.P217R|NFIA_ENST00000371189.4_Missense_Mutation_p.P239R|NFIA_ENST00000371187.3_Missense_Mutation_p.P194R	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	194					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	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)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCTGAAAGTCCCAGCCAGCCA	0.458																																						uc010oos.2																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.(715-717)cCc>cGc		Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.							88	84	85					1																	61743213		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61743213C>G	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.581C>G	1.37:g.61743213C>G	ENSP00000384523:p.Pro194Arg		Somatic				NFIA_uc001czy.3_Missense_Mutation_p.P186R|NFIA_uc001czw.3_Missense_Mutation_p.P194R|NFIA_uc001czv.3_Missense_Mutation_p.P194R	p.P239R	NM_001145512	NP_001138984	WXS	Illumina GAIIx	Phase_I	Q12857	NFIA_HUMAN			3	798	+			194					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.716C>G	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711883	0.68730	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371187	T;T;T;T;T;T	0.44881	0.91;0.93;0.91;0.91;0.94;0.92	6.02	6.02	0.97574	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.054084	0.64402	D	0.000001	T	0.62502	0.2433	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.76494	0.999;0.972;0.972;0.984	D;P;D;P	0.83275	0.996;0.804;0.954;0.904	T	0.58836	-0.7566	10	0.54805	T	0.06	-16.3017	20.5373	0.99239	0.0:1.0:0.0:0.0	.	239;217;194;194	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	R	217;186;239;194;194;194	ENSP00000360233:P217R;ENSP00000384680:P186R;ENSP00000360231:P239R;ENSP00000384523:P194R;ENSP00000419785:P194R;ENSP00000360229:P194R	ENSP00000360229:P194R	P	+	2	0	NFIA	61515801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.212000	0.72188	2.857000	0.98124	0.650000	0.86243	CCC		0.458	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595		22	46	0	0	0	1	0	22	46					G	61743213	C	G	61743213	3	3	330	1	0	0	0	0	1	0	0	0	10370	623	22	4	737	4	NFIA	1	61743213	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	20256889	61743213	187507408	4	5682											
TTN	7273	broad.mit.edu	37	2	179474597	179474597	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr2:179474597C>G	ENST00000591111.1	-	222	46854	c.46630G>C	c.(46630-46632)Gag>Cag	p.E15544Q	TTN_ENST00000342175.6_Missense_Mutation_p.E8312Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8245Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8120Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17185Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14617Q			Q8WZ42	TITIN_HUMAN	titin	15544	Fibronectin type-III 13. {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)			GCAATCTTCTCTATGATGTAG	0.438																																						uc021vsy.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.(43849-43851)Gag>Cag		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							375	356	362					2																	179474597		1919	4138	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474597C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46630G>C	2.37:g.179474597C>G	ENSP00000465570:p.Glu15544Gln		Somatic				MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8312Q|TTN_uc021vta.1_Missense_Mutation_p.E8245Q|TTN_uc021vtb.1_Missense_Mutation_p.E8120Q	p.E14617Q	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		220	44074	-			15544			Ig-like 96.		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.43849G>C		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919400	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73853	0.3640	M	0.69523	2.12	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	T	0.75525	-0.3287	9	0.87932	D	0	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	8120;8245;8312;15544	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	14617;8120;8312;8245;8120	ENSP00000343764:E14617Q;ENSP00000434586:E8120Q;ENSP00000340554:E8312Q;ENSP00000352154:E8245Q	ENSP00000340554:E8312Q	E	-	1	0	TTN	179182842	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	GAG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	296	0	0	0	1	0	9	296					G	179474597	C	G	179474597	3	3	330	1	0	0	0	0	1	0	0	0	16732	922	32	4	56504	4	TTN	2	179474597	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		179474597	63724776	5	5683											
GPR98	84059	broad.mit.edu	37	5	90074772	90074772	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr5:90074772G>A	ENST00000405460.2	+	64	13036	c.12940G>A	c.(12940-12942)Gat>Aat	p.D4314N	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4314	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCAGGCTTGGATTTTGTTCC	0.493																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(12940-12942)Gat>Aat		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							139	146	143					5																	90074772		2107	4232	6339	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:90074772G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12940G>A	5.37:g.90074772G>A	ENSP00000384582:p.Asp4314Asn		Somatic				GPR98_uc003kjt.3_Missense_Mutation_p.D2020N|GPR98_uc003kjw.3_5'Flank	p.D4314N	NM_032119	NP_115495	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	63	13036	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4314			Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12940G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018523	0.93404	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.62498	0.02	5.61	5.61	0.85477	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85667	0.1292	10	0.54805	T	0.06	.	19.6397	0.95753	0.0:0.0:1.0:0.0	.	4314	Q8WXG9	GPR98_HUMAN	N	4314	ENSP00000384582:D4314N	ENSP00000296619:D4314N	D	+	1	0	GPR98	90110528	1.000000	0.71417	0.107000	0.21349	0.089000	0.18198	8.849000	0.92178	2.632000	0.89209	0.655000	0.94253	GAT		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	114	0	0	0	1	0	8	114					A	90074772	G	A	90074772	3	1	330	1	0	0	0	0	1	0	0	0	6721	1174	41	2	13194	2	GPR98	5	90074772	Missense_Mutation	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08		90074772	90840488	6	5684											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	45	0	0	0	1	0	16	45					T	140453136	A	T	140453136	3	4	330	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DO-01A-11D-A19J-08		140453136	18685527	7	5685											
HTRA4	203100	broad.mit.edu	37	8	38831929	38831929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:38831929delC	ENST00000302495.4	+	1	247	c.147delC	c.(145-147)tgcfs	p.C49fs	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	49	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCACGCGCTGCCCCGCGCTGC	0.746																																						uc003xmj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(145-147)tgcfs		Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.							5	5	5					8																	38831929		2076	4003	6079	SO:0001589	frameshift_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38831929delC	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.147delC	8.37:g.38831929delC	ENSP00000305919:p.Cys49fs		Somatic					p.C49fs	NM_153692	NP_710159	WXS	Illumina GAIIx	Phase_I	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		0	262	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	49			IGFBP N-terminal.		Q542Z4|Q6PF13	Frame_Shift_Del	DEL	ENST00000302495.4	37	c.147delC	CCDS6110.1																																																																																				0.746	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		2	4						2	4	---	---	---	---	-	38831929	C	-	38831929	7	5	330	1	0	1	0	1	0	0	0	0	7456	747	26	0	149	0	HTRA4	8	38831929	Frame_Shift_Del	DEL	C	TCGA-ET-A3DO-01A-11D-A19J-08		38831929	107532093	8	5686											
PLEC	5339	broad.mit.edu	37	8	145009393	145009393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:145009393C>A	ENST00000322810.4	-	7	1271	c.1102G>T	c.(1102-1104)Gga>Tga	p.G368*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.G209*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.G258*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.G235*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.G217*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.G258*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.G231*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.G199*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	368	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			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						CGCGTCACTCCCAGGTCCCGC	0.657																																						uc003zaf.1																			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.(1102-1104)Gga>Tga		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							69	83	78					8																	145009393		2159	4258	6417	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145009393C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1102G>T	8.37:g.145009393C>A	ENSP00000323856:p.Gly368*		Somatic				PLEC_uc003zab.1_Nonsense_Mutation_p.G231*|PLEC_uc003zac.1_Nonsense_Mutation_p.G235*|PLEC_uc003zad.2_Nonsense_Mutation_p.G231*|PLEC_uc003zae.1_Nonsense_Mutation_p.G199*|PLEC_uc003zag.1_Nonsense_Mutation_p.G209*|PLEC_uc003zah.2_Nonsense_Mutation_p.G217*|PLEC_uc003zaj.2_Nonsense_Mutation_p.G258*	p.G368*	NM_201380	NP_958782	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			6	1272	-			368			Actin-binding.|CH 2.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.1102G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	36	5.970952	0.97156	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	.	.	.	4.4	3.5	0.40072	.	0.182943	0.33309	U	0.005044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4977	0.55937	0.1685:0.8315:0.0:0.0	.	.	.	.	X	231;235;231;199;368;209;217;258;258;275	.	ENSP00000323856:G368X	G	-	1	0	PLEC	145081381	1.000000	0.71417	0.996000	0.52242	0.635000	0.38103	7.394000	0.79862	1.037000	0.40024	0.651000	0.88453	GGA		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	24	0	0	0	1	0	4	24					A	145009393	C	A	145009393	4	1	330	1	0	0	0	0	0	1	0	0	12052	632	22	4	13056	4	PLEC	8	145009393	Nonsense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	106177464	145009393	1354629	9	5687											
GALT	2592	broad.mit.edu	37	9	34649475	34649475	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr9:34649475C>T	ENST00000378842.3	+	10	1015	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S	GALT_ENST00000450095.2_Missense_Mutation_p.P216S|IL11RA_ENST00000441545.2_5'Flank|GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000488412.2_3'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	325			P -> L (in GALCT). {ECO:0000269|PubMed:9222760}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTACTACCCTCCGCTCCTGCG	0.577									Galactosemia																													uc003zve.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16						c.(973-975)Ccg>Tcg		Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.							114	108	110					9																	34649475		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34649475C>T	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.973C>T	9.37:g.34649475C>T	ENSP00000368119:p.Pro325Ser		Somatic				GALT_uc003zvf.3_Missense_Mutation_p.P216S|IL11RA_uc003zvi.3_5'Flank|IL11RA_uc011loq.2_5'Flank	p.P325S	NM_000155	NP_000146	WXS	Illumina GAIIx	Phase_I	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	9	1040	+	all_epithelial(49;0.102)		325		P -> L (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.973C>T	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788187	0.90367	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99239	-5.61;-5.61	5.3	4.39	0.52855	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.000000	0.85682	U	0.000000	D	0.99527	0.9831	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97999	1.0359	10	0.87932	D	0	-8.5874	13.118	0.59311	0.0:0.9199:0.0:0.0801	.	216;325	E7ET32;P07902	.;GALT_HUMAN	S	216;325	ENSP00000401956:P216S;ENSP00000368119:P325S	ENSP00000368119:P325S	P	+	1	0	GALT	34639475	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.646000	0.67916	2.487000	0.83934	0.555000	0.69702	CCG		0.577	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		5	108	0	0	0	1	0	5	108					T	34649475	C	T	34649475	3	4	330	1	0	0	0	0	1	0	0	0	6230	855	30	2	1011	2	GALT	9	34649475	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		34649475	106563956	10	5688											
LIG4	3981	broad.mit.edu	37	13	108861705	108861705	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr13:108861705T>C	ENST00000356922.4	-	2	2184	c.1912A>G	c.(1912-1914)Att>Gtt	p.I638V	LIG4_ENST00000405925.1_Missense_Mutation_p.I638V|LIG4_ENST00000442234.1_Missense_Mutation_p.I638V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	638					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATAATTCCAATAACTTTCTTC	0.358								Non-homologous end-joining																														uc001vqn.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1912-1914)Att>Gtt	Non-homologous end-joining	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.							72	72	72					13																	108861705		2203	4299	6502	SO:0001583	missense	3981				DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861705T>C	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1912A>G	13.37:g.108861705T>C	ENSP00000349393:p.Ile638Val		Somatic				LIG4_uc001vqo.3_Missense_Mutation_p.I638V|LIG4_uc010agf.3_Missense_Mutation_p.I638V|LIG4_uc001vqp.3_Missense_Mutation_p.I638V|LIG4_uc010agg.1_Missense_Mutation_p.I571V|LIG4_uc021rmk.1_Missense_Mutation_p.I638V	p.I638V	NM_002312	NP_996820	WXS	Illumina GAIIx	Phase_I	P49917	DNLI4_HUMAN			1	2185	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		638					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1912A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	0.369	-0.934801	0.02340	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.08370	3.1;3.1;3.1	5.7	-2.01	0.07410	BRCT (1);	0.219101	0.46758	N	0.000274	T	0.05135	0.0137	L	0.37561	1.115	0.30585	N	0.762138	B	0.02656	0.0	B	0.01281	0.0	T	0.31420	-0.9944	10	0.21540	T	0.41	.	6.4149	0.21712	0.0:0.3181:0.1212:0.5607	.	638	P49917	DNLI4_HUMAN	V	638	ENSP00000385955:I638V;ENSP00000402030:I638V;ENSP00000349393:I638V	ENSP00000349393:I638V	I	-	1	0	LIG4	107659706	0.182000	0.23173	0.060000	0.19600	0.645000	0.38454	0.513000	0.22770	0.034000	0.15491	0.445000	0.29226	ATT		0.358	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		26	51	0	0	0	1	0	26	51					C	108861705	T	C	108861705	3	2	330	1	0	0	0	0	1	0	0	0	8783	1406	49	3	827	3	LIG4	13	108861705	Missense_Mutation	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08		108861705	6308173	11	5689											
CGNL1	84952	broad.mit.edu	37	15	57730273	57730273	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr15:57730273A>G	ENST00000281282.5	+	2	154	c.76A>G	c.(76-78)Acc>Gcc	p.T26A		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	26	Head.					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)		AAGTGATGATACCCAAAAATC	0.483																																						uc010bfw.3																			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.(76-78)Acc>Gcc		Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.							152	161	158					15																	57730273		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730273A>G	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.76A>G	15.37:g.57730273A>G	ENSP00000281282:p.Thr26Ala		Somatic				CGNL1_uc002aeg.3_Missense_Mutation_p.T26A	p.T26A	NM_001252335	NP_001239264	WXS	Illumina GAIIx	Phase_I	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	269	+			26			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.76A>G	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	3.678	-0.066045	0.07273	.	.	ENSG00000128849	ENST00000281282	T	0.07800	3.16	4.71	1.16	0.20824	.	0.534633	0.15746	N	0.246662	T	0.07728	0.0194	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.49607	T	0.09	-5.6964	5.2109	0.15316	0.5494:0.1463:0.3043:0.0	.	26	Q0VF96	CGNL1_HUMAN	A	26	ENSP00000281282:T26A	ENSP00000281282:T26A	T	+	1	0	CGNL1	55517565	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	0.162000	0.16501	0.035000	0.15519	0.459000	0.35465	ACC		0.483	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		12	169	0	0	0	1	0	12	169					G	57730273	A	G	57730273	3	3	330	1	0	0	0	0	1	0	0	0	3304	391	14	3	78	3	CGNL1	15	57730273	Missense_Mutation	SNP	A	TCGA-ET-A3DO-01A-11D-A19J-08		57730273	44801119	12	5690											
TMEM204	79652	broad.mit.edu	37	16	1591953	1591953	+	Silent	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr16:1591953G>A	ENST00000566264.1	+	2	1015	c.312G>A	c.(310-312)ctG>ctA	p.L104L	TMEM204_ENST00000253934.5_Silent_p.L104L|IFT140_ENST00000426508.2_Intron	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	104					lymph vessel development (GO:0001945)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to stress (GO:0006950)|smooth muscle cell differentiation (GO:0051145)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CCTGCAACCTGGTGGCCACGG	0.701																																						uc002cmc.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(310-312)ctG>ctA		Homo sapiens transmembrane protein 204 (TMEM204), mRNA.							33	40	37					16																	1591953		2163	4244	6407	SO:0001819	synonymous_variant	79652				response to stress	adherens junction|integral to membrane		g.chr16:1591953G>A		CCDS42098.1	16p13.3	2008-02-05	2008-01-08	2008-01-08		ENSG00000131634			14158	protein-coding gene	gene with protein product		611002	"chromosome 16 open reading frame 30"	C16orf30			Standard	NM_024600		Approved	FLJ20898	uc002cmc.3	Q9BSN7		ENST00000566264.1:c.312G>A	16.37:g.1591953G>A			Somatic				IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Silent_p.L104L|TMEM204_uc010brr.1_Silent_p.L104L	p.L104L	NM_024600	NP_078876	WXS	Illumina GAIIx	Phase_I	Q9BSN7	TM204_HUMAN			2	710	+		Hepatocellular(780;0.219)	104					D3DU76|Q3KRC1|Q9H7G5	Silent	SNP	ENST00000566264.1	37	c.312G>A	CCDS42098.1																																																																																				0.701	TMEM204-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432610.1	NM_024600		3	35	0	0	0	1	0	3	35					A	1591953	G	A	1591953	2	1	330	1	0	0	0	0	0	0	0	1	16126	1335	47	2		2	TMEM204	16	1591953	Silent	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08		1591953	88762800	13	5691											
GPR179	440435	broad.mit.edu	37	17	36487270	36487270	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr17:36487270C>T	ENST00000342292.4	-	11	2202	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	728					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCCAGGGCCTCGGGGAATTCC	0.687																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2182-2184)Gag>Aag		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							24	28	27					17																	36487270		1937	4150	6087	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36487270C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2182G>A	17.37:g.36487270C>T	ENSP00000345060:p.Glu728Lys		Somatic					p.E728K	NM_001004334	NP_001004334	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			10	2203	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	728						Missense_Mutation	SNP	ENST00000342292.4	37	c.2182G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072841	0.93950	.	.	ENSG00000188888	ENST00000342292	T	0.63096	-0.02	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000004	T	0.78298	0.4261	M	0.71036	2.16	0.49213	D	0.999764	D	0.89917	1.0	D	0.70016	0.967	T	0.79593	-0.1739	10	0.62326	D	0.03	-27.6064	17.7583	0.88456	0.0:1.0:0.0:0.0	.	728	Q6PRD1	GP179_HUMAN	K	728	ENSP00000345060:E728K	ENSP00000345060:E728K	E	-	1	0	GPR179	33740796	1.000000	0.71417	0.970000	0.41538	0.719000	0.41307	6.869000	0.75521	2.722000	0.93159	0.655000	0.94253	GAG		0.687	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			3	25	0	0	0	1	0	3	25					T	36487270	C	T	36487270	3	4	330	1	0	0	0	0	1	0	0	0	6674	893	31	1	4925	1	GPR179	17	36487270	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		36487270	44707940	14	5692											
NLRP4	147945	broad.mit.edu	37	19	56363698	56363698	+	Silent	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr19:56363698C>T	ENST00000301295.6	+	2	674	c.252C>T	c.(250-252)ctC>ctT	p.L84L	NLRP4_ENST00000346986.5_Silent_p.L84L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	84	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		GAAAGGATCTCTGCATGAAGG	0.443																																						uc002qmd.4																			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.(250-252)ctC>ctT		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							73	76	75					19																	56363698		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56363698C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.252C>T	19.37:g.56363698C>T			Somatic					p.L84L	NM_134444	NP_604393	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	1	674	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	84			DAPIN.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.252C>T	CCDS12936.1																																																																																				0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	60	0	0	0	1	0	4	60					T	56363698	C	T	56363698	2	4	330	1	0	0	0	0	0	0	0	1	10479	900	32	2		2	NLRP4	19	56363698	Silent	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		56363698	2765285	15	5693											
KRTAP10-11	386678	broad.mit.edu	37	21	46067139	46067139	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr21:46067139C>T	ENST00000334670.8	+	1	809	c.764C>T	c.(763-765)tCc>tTc	p.S255F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	255	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCGTCTCCTCCTGCTGTGCC	0.701																																						uc002zfr.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(763-765)tCc>tTc		Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.							62	73	69					21																	46067139		2203	4299	6502	SO:0001583	missense	386678					keratin filament		g.chr21:46067139C>T	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.764C>T	21.37:g.46067139C>T	ENSP00000334197:p.Ser255Phe		Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.S255F	NM_198692	NP_941965	WXS	Illumina GAIIx	Phase_I	P60411	KR109_HUMAN			0	809	+			249					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.764C>T	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.771791	0.31320	.	.	ENSG00000243489	ENST00000334670	T	0.00784	5.7	3.36	2.4	0.29515	.	.	.	.	.	T	0.03095	0.0091	M	0.69358	2.11	0.33004	D	0.526623	D	0.89917	1.0	D	0.76575	0.988	T	0.30297	-0.9983	9	0.66056	D	0.02	.	10.1369	0.42712	0.0:0.7953:0.2047:0.0	.	255	P60412	KR10B_HUMAN	F	255	ENSP00000334197:S255F	ENSP00000334197:S255F	S	+	2	0	KRTAP10-11	44891567	0.735000	0.28153	0.976000	0.42696	0.111000	0.19643	0.575000	0.23729	1.428000	0.47296	0.462000	0.41574	TCC		0.701	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		8	78	0	0	0	1	0	8	78					T	46067139	C	T	46067139	3	4	330	1	0	0	0	0	1	0	0	0	8507	855	30	2	766	2	KRTAP10-11	21	46067139	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08		46067139	2062756	16	5694											
DCX	1641	broad.mit.edu	37	X	110653418	110653418	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:110653418T>C	ENST00000338081.3	-	2	623	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	DCX_ENST00000371993.2_Missense_Mutation_p.Y70C|DCX_ENST00000356915.2_Missense_Mutation_p.Y70C|DCX_ENST00000488120.1_Missense_Mutation_p.Y70C|DCX_ENST00000356220.3_Missense_Mutation_p.Y70C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	151	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGACACAGCGTACACAATCCC	0.527																																						uc011msv.2																			0		p.V150M(1)|p.Y151Y(1)|p.Y151*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(451-453)tAc>tGc		Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.							299	214	243					X																	110653418		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653418T>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.452A>G	X.37:g.110653418T>C	ENSP00000337697:p.Tyr151Cys		Somatic				DCX_uc004epd.3_Missense_Mutation_p.Y151C|DCX_uc004epe.3_Missense_Mutation_p.Y70C|DCX_uc004epf.3_Missense_Mutation_p.Y70C|DCX_uc004epg.3_Missense_Mutation_p.Y70C	p.Y151C	NM_178152	NP_835365	WXS	Illumina GAIIx	Phase_I	O43602	DCX_HUMAN			1	624	-			151			Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.452A>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.048199|4.048199	0.75846|0.75846	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|D;D;D;D;D;D	.|0.92149	.|-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Doublecortin domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96466|0.96466	0.8847|0.8847	M|M	0.88704|0.88704	2.975|2.975	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.892	.|D;P	.|0.83275	.|0.996;0.852	D|D	0.97051|0.97051	0.9764|0.9764	5|10	.|0.66056	.|D	.|0.02	.|.	14.44|14.44	0.67309|0.67309	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|139;151	.|B4DM53;O43602	.|.;DCX_HUMAN	A|C	143|70;70;151;70;70;70	.|ENSP00000349385:Y70C;ENSP00000361061:Y70C;ENSP00000337697:Y151C;ENSP00000348553:Y70C;ENSP00000419861:Y70C;ENSP00000418811:Y70C	.|ENSP00000337697:Y151C	T|Y	-|-	1|2	0|0	DCX|DCX	110540074|110540074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	1.986000|1.986000	0.57962|0.57962	0.417000|0.417000	0.27973|0.27973	ACG|TAC		0.527	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		6	108	0	0	0	1	0	6	108					C	110653418	T	C	110653418	3	2	330	1	0	0	0	0	1	0	0	0	4318	1638	57	3	912	3	DCX	23	110653418	Missense_Mutation	SNP	T	TCGA-ET-A3DO-01A-11D-A19J-08		110653418	44617142	17	5695											
SLC25A43	203427	broad.mit.edu	37	X	118585975	118585975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:118585975C>T	ENST00000217909.7	+	4	1038	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	SLC25A43_ENST00000336249.7_Missense_Mutation_p.S174L|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	232					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTGTCAGGCTCAGAGCCCCTA	0.532																																						uc004erd.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(694-696)Cag>Tag		Homo sapiens solute carrier family 25, member 43 (SLC25A43), nuclear gene encoding mitochondrial protein, mRNA.							60	61	61					X																	118585975		2203	4300	6503	SO:0001587	stop_gained	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118585975C>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.694C>T	X.37:g.118585975C>T	ENSP00000217909:p.Gln232*		Somatic				SLC25A43_uc004erc.2_Non-coding_Transcript|SLC25A43_uc011mtt.2_Missense_Mutation_p.S174L	p.Q232*	NM_145305	NP_660348	WXS	Illumina GAIIx	Phase_I	Q8WUT9	S2543_HUMAN			3	803	+			232					O75854|Q8N9L5	Nonsense_Mutation	SNP	ENST00000217909.7	37	c.694C>T	CCDS14577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.272790|5.272790	0.95429|0.95429	.|.	.|.	ENSG00000077713|ENSG00000077713	ENST00000217909;ENST00000326714|ENST00000336249	.|T	.|0.77620	.|-1.11	5.37|5.37	4.48|4.48	0.54585|0.54585	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69106	.|0.3074	.|.	.|.	.|.	0.26018|0.26018	N|N	0.981903|0.981903	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	.|T	.|0.57213	.|-0.7850	.|8	0.27082|0.35671	T|T	0.32|0.21	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.852:0.148:0.0|0.0:0.852:0.148:0.0	.|.	.|174	.|B4E1P8	.|.	X|L	232;180|174	.|ENSP00000338628:S174L	ENSP00000217909:Q232X|ENSP00000338628:S174L	Q|S	+|+	1|2	0|0	SLC25A43|SLC25A43	118470003|118470003	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.246000|0.246000	0.25737|0.25737	5.335000|5.335000	0.65929|0.65929	0.994000|0.994000	0.38892|0.38892	0.600000|0.600000	0.82982|0.82982	CAG|TCA		0.532	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		8	69	0	0	0	1	0	8	69					T	118585975	C	T	118585975	4	4	330	1	0	0	0	0	0	1	0	0	14508	827	29	2	708	2	SLC25A43	23	118585975	Nonsense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	7932557	118585975	36684585	18	5696											
ODZ1	10178	broad.mit.edu	37	X	123637463	123637463	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:123637463G>A	ENST00000371130.3	-	19	3455	c.3392C>T	c.(3391-3393)tCt>tTt	p.S1131F	TENM1_ENST00000422452.2_Missense_Mutation_p.S1131F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1131					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTAGGTTAGAAGCATCCAT	0.378																																						uc010nqy.3																			0		p.D1131H(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						c.(3391-3393)tCt>tTt		Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.							181	176	178					X																	123637463		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123637463G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3392C>T	X.37:g.123637463G>A	ENSP00000360171:p.Ser1131Phe		Somatic				ODZ1_uc011muj.2_Missense_Mutation_p.S1130F|ODZ1_uc004euj.3_Missense_Mutation_p.S1131F	p.S1131F	NM_001163278	NP_001156750	WXS	Illumina GAIIx	Phase_I	Q9UKZ4	TEN1_HUMAN			18	3456	-			1131					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3392C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705248	0.89018	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87966	-2.32;-2.29	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.998;0.996;1.0	D;P;D	0.78314	0.991;0.903;0.986	D	0.93300	0.6676	10	0.59425	D	0.04	.	18.865	0.92289	0.0:0.0:1.0:0.0	.	1130;1131;1131	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	1131	ENSP00000360171:S1131F;ENSP00000403954:S1131F	ENSP00000360171:S1131F	S	-	2	0	ODZ1	123465144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.402000	0.81655	0.600000	0.82982	TCT		0.378	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		14	250	0	0	0	1	0	14	250					A	123637463	G	A	123637463	3	1	330	1	0	0	0	0	1	0	0	0	10834	942	33	2	4862	2	ODZ1	23	123637463	Missense_Mutation	SNP	G	TCGA-ET-A3DO-01A-11D-A19J-08	5051488	123637463	31633097	19	5697											
MAGEA1	4100	broad.mit.edu	37	X	152482113	152482113	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:152482113C>T	ENST00000356661.5	-	3	1116	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	300	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAAGCTGCTTCACGCAGG	0.577																																						uc004fhf.2																			0				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(898-900)Gca>Aca		Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.							104	102	103					X																	152482113		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482113C>T		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.898G>A	X.37:g.152482113C>T	ENSP00000349085:p.Ala300Thr		Somatic				MAGEA1_uc022chs.1_Missense_Mutation_p.A300T	p.A300T	NM_004988	NP_004979	WXS	Illumina GAIIx	Phase_I	P43355	MAGA1_HUMAN			2	1118	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		300			MAGE.		B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.898G>A	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	C	9.878	1.200838	0.22121	.	.	ENSG00000198681	ENST00000356661	T	0.01767	4.65	1.28	0.353	0.16058	.	0.526287	0.20315	N	0.094757	T	0.01222	0.0040	L	0.47716	1.5	0.09310	N	1	P	0.42483	0.781	B	0.17722	0.019	T	0.51973	-0.8637	10	0.87932	D	0	.	3.1752	0.06566	0.0:0.6834:0.0:0.3166	.	300	P43355	MAGA1_HUMAN	T	300	ENSP00000349085:A300T	ENSP00000349085:A300T	A	-	1	0	MAGEA1	152135307	0.128000	0.22383	0.001000	0.08648	0.082000	0.17680	0.902000	0.28459	0.049000	0.15920	0.190000	0.17370	GCA		0.577	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		47	99	0	0	0	1	0	47	99					T	152482113	C	T	152482113	3	4	330	1	0	0	0	0	1	0	0	0	9163	797	28	2	35	2	MAGEA1	23	152482113	Missense_Mutation	SNP	C	TCGA-ET-A3DO-01A-11D-A19J-08	28844650	152482113	2788447	20	5698											
PLEKHN1	84069	broad.mit.edu	37	1	907717	907717	+	Silent	SNP	C	C	T	rs371553226		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr1:907717C>T	ENST00000379409.2	+	9	1101	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	PLEKHN1_ENST00000379407.3_Silent_p.Y317Y|PLEKHN1_ENST00000379410.3_Silent_p.Y305Y			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	357	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGAGGACTACGGTCACTGGC	0.687																																						uc001ace.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1069-1071)taC>taT		Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.		C	,	1,4403	2.1+/-5.4	0,1,2201	30	29	30		951,915	0.2	0.4	1		30	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	PLEKHN1	NM_001160184.1,NM_032129.2	,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,	317/577,305/612	907717	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	84069							g.chr1:907717C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1071C>T	1.37:g.907717C>T			Somatic				PLEKHN1_uc001acd.3_Silent_p.Y305Y|PLEKHN1_uc001acf.3_Silent_p.Y317Y	p.Y357Y	NM_032129	NP_115505	WXS	Illumina GAIIx	Phase_I	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	8	1106	+	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)	357			PH 2.		Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.1071C>T																																																																																					0.687	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		3	47	0	0	0	1	0	3	47					T	907717	C	T	907717	2	4	331	1	0	0	0	0	0	0	0	1	12083	547	19	1		1	PLEKHN1	1	907717	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		907717	248342904	1	5699											
LIMD1	8994	broad.mit.edu	37	3	45636405	45636405	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:45636405A>T	ENST00000273317.4	+	1	55	c.34A>T	c.(34-36)Agt>Tgt	p.S12C	LIMD1_ENST00000465039.1_Intron|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_Missense_Mutation_p.S12C	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	12					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGAGGCCAGTAAATTCAT	0.557																																						uc003coq.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(34-36)Agt>Tgt		Homo sapiens LIM domains containing 1 (LIMD1), mRNA.							75	78	77					3																	45636405		2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding	g.chr3:45636405A>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.34A>T	3.37:g.45636405A>T	ENSP00000273317:p.Ser12Cys		Somatic					p.S12C	NM_014240	NP_055055	WXS	Illumina GAIIx	Phase_I	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	0	83	+			12					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.34A>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498507	0.85069	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.73575	-0.76;-0.52	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	N	0.24115	0.695	0.49582	D	0.999808	D	0.89917	1.0	D	0.85130	0.997	T	0.80348	-0.1420	10	0.87932	D	0	.	13.2074	0.59805	1.0:0.0:0.0:0.0	.	12	Q9UGP4	LIMD1_HUMAN	C	12	ENSP00000394537:S12C;ENSP00000273317:S12C	ENSP00000273317:S12C	S	+	1	0	LIMD1	45611409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.875000	0.92372	1.520000	0.48965	0.379000	0.24179	AGT		0.557	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		11	30	0	0	0	1	0	11	30					T	45636405	A	T	45636405	3	4	331	1	0	0	0	0	1	0	0	0	8798	188	7	5	36	5	LIMD1	3	45636405	Missense_Mutation	SNP	A	TCGA-ET-A3DP-01A-11D-A21A-08		45636405	152386025	2	5700											
TRAIP	10293	broad.mit.edu	37	3	49866894	49866894	+	Silent	SNP	C	C	T	rs146306196	byFrequency	TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr3:49866894C>T	ENST00000331456.2	-	14	1397	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAIP_ENST00000469027.1_Silent_p.Q273Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	428	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATACAGGCTGGATGAATT	0.577																																						uc003cxs.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1282-1284)caG>caA		Homo sapiens TRAF interacting protein (TRAIP), mRNA.							61	63	63					3																	49866894		2203	4300	6503	SO:0001819	synonymous_variant	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49866894C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1284G>A	3.37:g.49866894C>T			Somatic				TRAIP_uc010hla.1_Silent_p.Q329Q	p.Q428Q	NM_005879	NP_005870	WXS	Illumina GAIIx	Phase_I	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	1390	-			428			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Silent	SNP	ENST00000331456.2	37	c.1284G>A	CCDS2806.1																																																																																				0.577	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		22	35	0	0	0	1	0	22	35					T	49866894	C	T	49866894	2	4	331	1	0	0	0	0	0	0	0	1	16445	796	28	2		2	TRAIP	3	49866894	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08	4230489	49866894	148155536	3	5701											
KIAA1211	57482	broad.mit.edu	37	4	57180750	57180752	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr4:57180750_57180752delAGG	ENST00000504228.1	+	6	1187_1189	c.1082_1084delAGG	c.(1081-1086)caggag>cag	p.E365del	KIAA1211_ENST00000541073.1_In_Frame_Del_p.E358del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.E365del			Q6ZU35	K1211_HUMAN	KIAA1211	365	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ctcaaaaggcaggaggaggagga	0.704																																						uc003hbk.2																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1081-1086)caggag>cag		Homo sapiens KIAA1211 (KIAA1211), mRNA.				29,3525		9,11,1757						3.3	0.0			8	44,7146		13,18,3564	no	coding	KIAA1211	NM_020722.1		22,29,5321	A1A1,A1R,RR		0.612,0.816,0.6794				73,10671				SO:0001651	inframe_deletion	57482							g.chr4:57180750_57180752delAGG	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1082_1084delAGG	4.37:g.57180759_57180761delAGG	ENSP00000423366:p.Glu365del		Somatic				KIAA1211_uc010iha.2_In_Frame_Del_p.E358del|KIAA1211_uc011bzz.1_In_Frame_Del_p.E275del|KIAA1211_uc003hbm.1_In_Frame_Del_p.E251del	p.E365del	NM_020722	NP_065773	WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			7	1473_1475	+	Glioma(25;0.08)|all_neural(26;0.101)		365			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Del	DEL	ENST00000504228.1	37	c.1082_1084delAGG	CCDS43230.1																																																																																				0.704	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		2	4						2	4	---	---	---	---	-	57180752	AGG	-	57180750	7	5	331	1	0	1	0	1	0	0	0	0	8215	188	7	0	1100	0	KIAA1211	4	57180750	In_Frame_Del	DEL	AGG	TCGA-ET-A3DP-01A-11D-A21A-08		57180750	133973526	4	5702											
COL11A2	1302	broad.mit.edu	37	6	33139342	33139342	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:33139342C>T	ENST00000374708.4	-	41	3160	c.2902G>A	c.(2902-2904)Ggc>Agc	p.G968S	COL11A2_ENST00000341947.2_Missense_Mutation_p.G1054S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1007S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1028S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G994S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G947S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G973S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1033S	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1054	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAATGGGGCCCTTCTCACCC	0.617																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3160-3162)Ggc>Agc		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							28	30	30					6																	33139342		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139342C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2902G>A	6.37:g.33139342C>T	ENSP00000363840:p.Gly968Ser		Somatic				COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G968S|COL11A2_uc003ocz.1_Missense_Mutation_p.G947S	p.G1054S	NM_080680	NP_542411	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			42	3388	-			1054			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3160G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403879	0.42613	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99607	-6.27;-4.82;-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96868	0.9637	10	0.87932	D	0	.	13.1962	0.59740	0.0:1.0:0.0:0.0	.	947;968;1054	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	S	968;1054;1033;1028;1007;994;973;947	ENSP00000363840:G968S;ENSP00000339915:G1054S;ENSP00000350079:G1033S;ENSP00000363846:G1028S;ENSP00000363845:G1007S;ENSP00000378623:G994S;ENSP00000363844:G973S;ENSP00000355123:G947S	ENSP00000339915:G1054S	G	-	1	0	COL11A2	33247320	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	7.597000	0.82733	1.945000	0.56424	0.297000	0.19635	GGC		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			7	14	0	0	0	1	0	7	14					T	33139342	C	T	33139342	3	4	331	1	0	0	0	0	1	0	0	0	3668	623	22	2	2146	2	COL11A2	6	33139342	Missense_Mutation	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		33139342	137975725	5	5703											
TULP4	56995	broad.mit.edu	37	6	158923511	158923511	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr6:158923511G>A	ENST00000367097.3	+	13	4173	c.2816G>A	c.(2815-2817)aGc>aAc	p.S939N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	939					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGCAGCAGTGCCACC	0.672																																						uc003qrf.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2815-2817)aGc>aAc		Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.							62	64	63					6																	158923511		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923511G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2816G>A	6.37:g.158923511G>A	ENSP00000356064:p.Ser939Asn		Somatic				TULP4_uc003qrg.3_Intron	p.S939N	NM_020245	NP_064630	WXS	Illumina GAIIx	Phase_I	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	12	4173	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	939					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2816G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180238	0.38511	.	.	ENSG00000130338	ENST00000367097	T	0.61742	0.08	4.49	3.61	0.41365	.	0.367408	0.31092	N	0.008266	T	0.34193	0.0889	L	0.38175	1.15	0.80722	D	1	B	0.19200	0.034	B	0.20577	0.03	T	0.37407	-0.9707	10	0.87932	D	0	-18.6353	14.7456	0.69488	0.0:0.8515:0.1484:0.0	.	939	Q9NRJ4	TULP4_HUMAN	N	939	ENSP00000356064:S939N	ENSP00000356064:S939N	S	+	2	0	TULP4	158843499	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.598000	0.46223	0.997000	0.38969	-0.270000	0.10280	AGC		0.672	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		4	128	0	0	0	1	0	4	128					A	158923511	G	A	158923511	3	1	331	1	0	0	0	0	1	0	0	0	16773	971	34	2	2866	2	TULP4	6	158923511	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08	125784169	158923511	12191556	6	5704											
PCLO	27445	broad.mit.edu	37	7	82584499	82584499	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:82584499T>C	ENST00000333891.9	-	5	6107	c.5770A>G	c.(5770-5772)Aaa>Gaa	p.K1924E	PCLO_ENST00000423517.2_Missense_Mutation_p.K1924E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGTGTTTTATGCATCATT	0.358																																						uc003uhx.2																			0				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.(5770-5772)Aaa>Gaa		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							57	54	55					7																	82584499		1870	4096	5966	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584499T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5770A>G	7.37:g.82584499T>C	ENSP00000334319:p.Lys1924Glu		Somatic				PCLO_uc003uhv.2_Missense_Mutation_p.K1924E	p.K1924E	NM_033026	NP_149015	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			4	6059	-			1855						Missense_Mutation	SNP	ENST00000333891.9	37	c.5770A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.854446	0.32791	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.34275	1.37;1.39	5.38	5.38	0.77491	.	.	.	.	.	T	0.50154	0.1599	L	0.54323	1.7	0.80722	D	1	D;D	0.59767	0.972;0.986	P;P	0.56398	0.797;0.797	T	0.53585	-0.8418	9	0.87932	D	0	.	15.3967	0.74801	0.0:0.0:0.0:1.0	.	1924;1924	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1855;1924;1924	ENSP00000334319:K1924E;ENSP00000388393:K1924E	ENSP00000334319:K1924E	K	-	1	0	PCLO	82422435	1.000000	0.71417	0.959000	0.39883	0.991000	0.79684	5.986000	0.70563	2.036000	0.60181	0.533000	0.62120	AAA		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	4	0	0	0	1	0	4	4					C	82584499	T	C	82584499	3	2	331	1	0	0	0	0	1	0	0	0	11583	1763	61	3	9759	3	PCLO	7	82584499	Missense_Mutation	SNP	T	TCGA-ET-A3DP-01A-11D-A21A-08		82584499	76554164	7	5705											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	20	0	0	0	1	0	16	20					T	140453136	A	T	140453136	3	4	331	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DP-01A-11D-A21A-08	57868637	140453136	18685527	8	5706											
TCF7L2	6934	broad.mit.edu	37	10	114911638	114911638	+	Silent	SNP	C	C	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr10:114911638C>A	ENST00000355995.4	+	10	1663	c.1156C>A	c.(1156-1158)Cgg>Agg	p.R386R	TCF7L2_ENST00000542695.1_Silent_p.R102R|TCF7L2_ENST00000369386.1_Silent_p.R29R|TCF7L2_ENST00000543371.1_Silent_p.R386R|TCF7L2_ENST00000536810.1_Silent_p.R386R|TCF7L2_ENST00000352065.5_Silent_p.R363R|TCF7L2_ENST00000545257.1_Silent_p.R386R|TCF7L2_ENST00000369397.4_Silent_p.R363R|TCF7L2_ENST00000534894.1_Silent_p.R386R|TCF7L2_ENST00000538897.1_Silent_p.R386R|TCF7L2_ENST00000355717.4_Silent_p.R410R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369389.1_Silent_p.R97R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	386	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GATCCTTGGGCGGAGGGTAGG	0.547			T	VTI1A	colorectal																																	uc021pyi.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0		p.L386L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1156-1158)Cgg>Agg		Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.							57	55	56					10																	114911638		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114911638C>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1156C>A	10.37:g.114911638C>A			Somatic				TCF7L2_uc001lah.3_Silent_p.R368R|TCF7L2_uc010qro.2_Silent_p.R363R|TCF7L2_uc001lae.4_Silent_p.R386R|TCF7L2_uc010qrm.2_Silent_p.R386R|TCF7L2_uc010qrn.2_Silent_p.R329R|TCF7L2_uc021pyg.1_Silent_p.R102R|TCF7L2_uc021pyh.1_Silent_p.R368R|TCF7L2_uc021pyj.1_Silent_p.R386R|TCF7L2_uc021pyk.1_Silent_p.R368R|TCF7L2_uc021pyl.1_Silent_p.R368R|TCF7L2_uc010qrp.2_Silent_p.R363R|TCF7L2_uc021pym.1_Silent_p.R359R|TCF7L2_uc021pyn.1_Silent_p.R391R|TCF7L2_uc021pyo.1_Silent_p.R391R|TCF7L2_uc021pyp.1_Silent_p.R382R|TCF7L2_uc010qrq.2_Silent_p.R359R|TCF7L2_uc001lac.4_Silent_p.R363R|TCF7L2_uc010qrk.2_Silent_p.R363R|TCF7L2_uc001lad.4_Silent_p.R359R|TCF7L2_uc001lag.4_Silent_p.R410R|TCF7L2_uc001laf.4_Silent_p.R363R|TCF7L2_uc010qrl.2_Silent_p.R363R|TCF7L2_uc010qrr.2_Silent_p.R301R|TCF7L2_uc010qrs.2_Silent_p.R257R|TCF7L2_uc010qrt.2_Silent_p.R257R|TCF7L2_uc010qru.2_Silent_p.R285R|TCF7L2_uc010qrv.2_Silent_p.R203R|TCF7L2_uc010qrw.2_Silent_p.R90R|TCF7L2_uc010qrx.2_Silent_p.R243R|Mir_652_uc021pyq.1_5'Flank	p.R386R	NM_030756	NP_110383	WXS	Illumina GAIIx	Phase_I	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	9	1663	+		Breast(234;0.058)|Colorectal(252;0.0615)	386			Mediates interaction with MAD2L2.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.1156C>A																																																																																					0.547	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		3	58	0	0	0	1	0	3	58					A	114911638	C	A	114911638	2	1	331	1	0	0	0	0	0	0	0	1	15695	759	27	4		4	TCF7L2	10	114911638	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		114911638	20623109	9	5707											
TSSK4	283629	broad.mit.edu	37	14	24676436	24676436	+	Silent	SNP	T	T	C			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr14:24676436T>C	ENST00000287913.6	+	3	693	c.525T>C	c.(523-525)tcT>tcC	p.S175S	CHMP4A_ENST00000542700.2_5'Flank|TSSK4_ENST00000556621.1_Silent_p.S99S|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000339917.5_Silent_p.S185S|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000556387.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TGGTGCCTTCTAACCAGCCTG	0.502																																						uc001wnh.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(553-555)tcT>tcC		Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.							208	176	187					14																	24676436		2203	4300	6503	SO:0001819	synonymous_variant	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24676436T>C	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.525T>C	14.37:g.24676436T>C			Somatic				TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Silent_p.S99S|TSSK4_uc001wnf.3_Silent_p.S105S|TSSK4_uc001wng.3_Silent_p.S175S	p.S185S	NM_001184739	NP_001171668	WXS	Illumina GAIIx	Phase_I	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	759	+			175			Protein kinase.		Q2TA60|Q6ZNM2	Silent	SNP	ENST00000287913.6	37	c.555T>C	CCDS9618.1																																																																																				0.502	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		8	134	0	0	0	1	0	8	134					C	24676436	T	C	24676436	2	2	331	1	0	0	0	0	0	0	0	1	16668	1509	53	3		3	TSSK4	14	24676436	Silent	SNP	T	TCGA-ET-A3DP-01A-11D-A21A-08		24676436	82673104	10	5708											
DNAH2	146754	broad.mit.edu	37	17	7722542	7722542	+	Missense_Mutation	SNP	G	G	A	rs373672740		TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:7722542G>A	ENST00000572933.1	+	72	12291	c.10831G>A	c.(10831-10833)Gcc>Acc	p.A3611T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3611T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3611					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.A3611T(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)				CCGCCCATGCGCCCAGCGGGC	0.607																																						uc002giu.1																			1	Substitution - Missense(1)	p.A3611T(2)	large_intestine(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.(10831-10833)Gcc>Acc		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.		G	THR/ALA	0,4406		0,0,2203	71	58	63		10831	4.0	0.9	17		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3611/4428	7722542	1,13005	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.chr17:7722542G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10831G>A	17.37:g.7722542G>A	ENSP00000458355:p.Ala3611Thr		Somatic				DNAH2_uc010cnm.1_Missense_Mutation_p.A549T	p.A3611T	NM_020877	NP_065928	WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			70	10845	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3611					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10831G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591222	0.66219	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62232	0.04	4.02	4.02	0.46733	.	0.000000	0.64402	D	0.000001	D	0.87414	0.6171	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.948	D	0.92179	0.5750	10	0.87932	D	0	.	13.5202	0.61563	0.0:0.0:1.0:0.0	.	3572;3611	Q9P225-2;Q9P225	.;DYH2_HUMAN	T	3572;3611	ENSP00000373825:A3611T	ENSP00000353818:A3572T	A	+	1	0	DNAH2	7663267	1.000000	0.71417	0.919000	0.36401	0.159000	0.22180	9.017000	0.93651	2.228000	0.72767	0.561000	0.74099	GCC		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	102	0	0	0	1	0	5	102					A	7722542	G	A	7722542	3	1	331	1	0	0	0	0	1	0	0	0	4602	1087	38	1	11113	1	DNAH2	17	7722542	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08		7722542	73472668	11	5709											
FBXL20	84961	broad.mit.edu	37	17	37431233	37431233	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:37431233G>A	ENST00000264658.6	-	10	1077	c.817C>T	c.(817-819)Cca>Tca	p.P273S	FBXL20_ENST00000577399.1_Missense_Mutation_p.P275S|FBXL20_ENST00000394294.3_Missense_Mutation_p.P241S|FBXL20_ENST00000583610.1_Missense_Mutation_p.P273S	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	273					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CTAAGCCGTGGGCAGTTCTGA	0.408																																						uc002hrt.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(817-819)Cca>Tca		Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.							122	113	116					17																	37431233		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37431233G>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.817C>T	17.37:g.37431233G>A	ENSP00000264658:p.Pro273Ser		Somatic				FBXL20_uc010cvu.3_Missense_Mutation_p.P241S	p.P273S	NM_032875	NP_116264	WXS	Illumina GAIIx	Phase_I	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		9	1071	-			273					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.817C>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413695	0.62511	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.51817	0.69;0.69	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.52759	1.655	0.80722	D	1	B;B	0.26935	0.164;0.049	B;B	0.29077	0.098;0.04	T	0.30880	-0.9963	10	0.33141	T	0.24	.	19.9446	0.97177	0.0:0.0:1.0:0.0	.	241;273	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	S	273;241	ENSP00000264658:P273S;ENSP00000377832:P241S	ENSP00000264658:P273S	P	-	1	0	FBXL20	34684759	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.431000	0.80335	2.814000	0.96858	0.591000	0.81541	CCA		0.408	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		20	49	0	0	0	1	0	20	49					A	37431233	G	A	37431233	3	1	331	1	0	0	0	0	1	0	0	0	5717	1232	43	2	517	2	FBXL20	17	37431233	Missense_Mutation	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08	29708691	37431233	43763977	12	5710											
SPAG9	9043	broad.mit.edu	37	17	49067105	49067105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:49067105C>A	ENST00000262013.7	-	21	2954	c.2746G>T	c.(2746-2748)Gag>Tag	p.E916*	SPAG9_ENST00000357122.4_Nonsense_Mutation_p.E902*|SPAG9_ENST00000510283.1_Nonsense_Mutation_p.E759*|SPAG9_ENST00000505279.1_Nonsense_Mutation_p.E906*	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	916					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGACATGCTCTGTGTAGACG	0.478																																						uc002itc.3																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2746-2748)Gag>Tag		Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.							158	128	138					17																	49067105		2203	4300	6503	SO:0001587	stop_gained	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49067105C>A	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2746G>T	17.37:g.49067105C>A	ENSP00000262013:p.Glu916*		Somatic				SPAG9_uc002itd.3_Nonsense_Mutation_p.E906*|SPAG9_uc002itb.3_Nonsense_Mutation_p.E902*|SPAG9_uc002itf.3_Nonsense_Mutation_p.E737*|SPAG9_uc002ita.3_Nonsense_Mutation_p.E759*|SPAG9_uc002ite.3_Nonsense_Mutation_p.E746*	p.E916*	NM_001130528	NP_001124000	WXS	Illumina GAIIx	Phase_I	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		20	2955	-			916					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Nonsense_Mutation	SNP	ENST00000262013.7	37	c.2746G>T	CCDS45740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.114315|9.114315	0.99069|0.99069	.|.	.|.	ENSG00000008294|ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445|ENST00000513906	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.047130|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80053	.|0.4553	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77760	.|-0.2467	.|3	0.39692|.	T|.	0.17|.	-19.4506|-19.4506	19.9831|19.9831	0.97336|0.97336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	916;673;663;453;759;906;902;514|159	.|.	ENSP00000262013:E916X|.	E|Q	-|-	1|3	0|2	SPAG9|SPAG9	46422104|46422104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.131000|7.131000	0.77243|0.77243	2.728000|2.728000	0.93425|0.93425	0.650000|0.650000	0.86243|0.86243	GAG|CAG		0.478	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		4	36	0	0	0	1	0	4	36					A	49067105	C	A	49067105	4	1	331	1	0	0	0	0	0	1	0	0	14985	922	32	4	1259	4	SPAG9	17	49067105	Nonsense_Mutation	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08	11635872	49067105	32128105	13	5711											
ABCA5	23461	broad.mit.edu	37	17	67257831	67257831	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:67257831delA	ENST00000392676.3	-	25	3438	c.3374delT	c.(3373-3375)ttcfs	p.F1125fs	ABCA5_ENST00000588877.1_Frame_Shift_Del_p.F1125fs|ABCA5_ENST00000392677.2_Frame_Shift_Del_p.F1126fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1125					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTTAAAGGTGAAAGAAGCAAT	0.264																																						uc002jif.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(3373-3375)ttcfs		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.							19	19	19					17																	67257831		2192	4238	6430	SO:0001589	frameshift_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67257831delA	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3374delT	17.37:g.67257831delA	ENSP00000376443:p.Phe1125fs		Somatic				ABCA5_uc002jib.2_Frame_Shift_Del_p.F91fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.F348fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.F42fs|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.F1125fs	p.F1125fs	NM_018672	NP_758424	WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			23	4592	-	Breast(10;3.72e-11)		1125					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Del	DEL	ENST00000392676.3	37	c.3374delT	CCDS11685.1																																																																																				0.264	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		2	4						2	4	---	---	---	---	-	67257831	A	-	67257831	7	5	331	1	0	1	0	1	0	0	0	0	35	246	9	0	1614	0	ABCA5	17	67257831	Frame_Shift_Del	DEL	A	TCGA-ET-A3DP-01A-11D-A21A-08	18190726	67257831	13937379	14	5712											
BAHCC1	57597	broad.mit.edu	37	17	79409285	79409285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr17:79409285delG	ENST00000307745.7	+	9	910	c.910delG	c.(910-912)gggfs	p.G305fs																								CAGCTGTGCAGGGGGCATGCT	0.726																																						uc002kaf.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26						c.(724-726)gggfs		Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.							3	4	3					17																	79409285		1715	3686	5401	SO:0001589	frameshift_variant	57597						DNA binding	g.chr17:79409285delG																												ENST00000307745.7:c.910delG	17.37:g.79409285delG	ENSP00000303486:p.Gly305fs		Somatic				BAHCC1_uc002kae.2_5'Flank	p.G242fs	NM_001080519	NP_001073988	WXS	Illumina GAIIx	Phase_I	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		3	724	+	all_neural(118;0.0804)|Melanoma(429;0.242)		304						Frame_Shift_Del	DEL	ENST00000307745.7	37	c.724delG																																																																																					0.726	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	79409285	G	-	79409285	7	5	331	1	0	1	0	1	0	0	0	0	1296	1000	35	0	759	0	BAHCC1	17	79409285	Frame_Shift_Del	DEL	G	TCGA-ET-A3DP-01A-11D-A21A-08	12151454	79409285	1785925	15	5713											
ZMYND8	23613	broad.mit.edu	37	20	45891129	45891129	+	Silent	SNP	G	G	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chr20:45891129G>A	ENST00000311275.7	-	12	1717	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	ZMYND8_ENST00000471951.2_Silent_p.S508S|ZMYND8_ENST00000372023.3_Silent_p.S483S|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Silent_p.S515S|ZMYND8_ENST00000458360.2_Silent_p.S483S|ZMYND8_ENST00000262975.4_Silent_p.S488S|ZMYND8_ENST00000461685.1_Silent_p.S508S|ZMYND8_ENST00000396281.4_Silent_p.S488S|ZMYND8_ENST00000446994.2_Silent_p.S425S|ZMYND8_ENST00000360911.3_Silent_p.S483S|ZMYND8_ENST00000352431.2_Silent_p.S508S|ZMYND8_ENST00000355972.4_Silent_p.S488S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	488					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGGGCTGCCGGATAAACTCC	0.488																																						uc010zxy.1																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1543-1545)tcC>tcT		Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.							151	138	142					20																	45891129		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45891129G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1464C>T	20.37:g.45891129G>A			Somatic				ZMYND8_uc010ghq.1_Silent_p.S165S|ZMYND8_uc010ghr.1_Silent_p.S463S|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Silent_p.S488S|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Silent_p.S240S|ZMYND8_uc002xsx.1_Silent_p.S240S|ZMYND8_uc002xsy.1_Silent_p.S463S|ZMYND8_uc002xsz.1_Silent_p.S425S|ZMYND8_uc002xta.1_Silent_p.S488S|ZMYND8_uc002xtb.1_Silent_p.S508S|ZMYND8_uc002xss.2_Silent_p.S488S|ZMYND8_uc010zxz.1_Silent_p.S483S|ZMYND8_uc002xtc.1_Silent_p.S508S|ZMYND8_uc002xtd.1_Silent_p.S483S|ZMYND8_uc002xte.1_Silent_p.S488S|ZMYND8_uc010zya.1_Silent_p.S488S|ZMYND8_uc002xtf.1_Silent_p.S508S|ZMYND8_uc002xtg.3_Silent_p.S482S|ZMYND8_uc010ghs.2_Silent_p.S482S	p.S515S	NM_183047	NP_898868	WXS	Illumina GAIIx	Phase_I	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1627	-			488					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.1545C>T		.	.	.	.	.	.	.	.	.	.	G	4.955	0.177490	0.09443	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.34	-10.7	0.00240	.	.	.	.	.	T	0.57519	0.2059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69146	-0.5222	4	.	.	.	-19.7031	13.7368	0.62821	0.7224:0.0:0.1564:0.1212	.	.	.	.	W	415	.	.	R	-	1	2	ZMYND8	45324536	0.000000	0.05858	0.272000	0.24630	0.564000	0.35744	-3.168000	0.00574	-2.275000	0.00679	-0.977000	0.02584	CGG		0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	51	0	0	0	1	0	4	51					A	45891129	G	A	45891129	2	1	331	1	0	0	0	0	0	0	0	1	17708	1103	39	1		1	ZMYND8	20	45891129	Silent	SNP	G	TCGA-ET-A3DP-01A-11D-A21A-08		45891129	17134391	16	5714											
RPL36A	6173	broad.mit.edu	37	X	100650727	100650727	+	Silent	SNP	C	C	A			TCGA-ET-A3DP-01A-11D-A21A-08	TCGA-ET-A3DP-11A-22D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d8a9ef-371b-4aff-a116-6e38a084f140	43940b7d-7b62-4832-9622-16fd0730a98e	g.chrX:100650727C>A	ENST00000553110.3	+	5	396	c.312C>A	c.(310-312)atC>atA	p.I104I	RPL36A-HNRNPH2_ENST00000409170.3_Intron|RPL36A_ENST00000427805.2_Silent_p.I140I|RPL36A_ENST00000471855.1_Silent_p.I23I			P83881	RL36A_HUMAN	ribosomal protein L36a	104					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)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						GCCAAGTGATCCAGTTCTAAG	0.343																																						uc004ehk.3																			0											c.(310-312)atC>atA		Homo sapiens ribosomal protein L36a (RPL36A), transcript variant 1, mRNA.							157	138	144					X																	100650727		2203	4300	6503	SO:0001819	synonymous_variant	100529097							g.chrX:100650727C>A	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"L ribosomal proteins"	10359	protein-coding gene	gene with protein product		300902	"ribosomal protein L44"	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.312C>A	X.37:g.100650727C>A			Somatic				RPL36A-HNRNPH2_uc022cag.1_Intron|RPL36A-HNRNPH2_uc022cah.1_Intron	p.I104I	NM_021029	NP_066357	WXS	Illumina GAIIx	Phase_I					4	466	+								P09896|P10661|Q08ES5|Q5J9I6	Silent	SNP	ENST00000553110.3	37	c.312C>A																																																																																					0.343	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029		8	22	0	0	0	1	0	8	22					A	100650727	C	A	100650727	2	1	331	1	0	0	0	0	0	0	0	1	13587	845	30	4		4	RPL36A	23	100650727	Silent	SNP	C	TCGA-ET-A3DP-01A-11D-A21A-08		100650727	54619833	17	5715											
CITED2	10370	broad.mit.edu	37	6	139694455	139694455	+	Silent	SNP	G	G	T			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr6:139694455G>T	ENST00000367651.2	-	2	842	c.627C>A	c.(625-627)ccC>ccA	p.P209P	CITED2_ENST00000536159.1_Silent_p.P209P|CITED2_ENST00000537332.1_Silent_p.P209P	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	209					adrenal cortex formation (GO:0035802)|bone morphogenesis (GO:0060349)|cardiac neural crest cell development involved in heart development (GO:0061308)|cell aging (GO:0007569)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|cranial nerve morphogenesis (GO:0021602)|decidualization (GO:0046697)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endocardial cushion development (GO:0003197)|erythrocyte development (GO:0048821)|granulocyte differentiation (GO:0030851)|heart development (GO:0007507)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|left/right axis specification (GO:0070986)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|peripheral nervous system development (GO:0007422)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of gene expression (GO:0010628)|positive regulation of male gonad development (GO:2000020)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|pulmonary artery morphogenesis (GO:0061156)|regulation of organ formation (GO:0003156)|regulation of RNA biosynthetic process (GO:2001141)|response to estrogen (GO:0043627)|response to fluid shear stress (GO:0034405)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sex determination (GO:0007530)|skeletal muscle cell differentiation (GO:0035914)|spleen development (GO:0048536)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|LBD domain binding (GO:0050693)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GCATTGCAGCGGGGACGTGGG	0.647																																					NSCLC(98;1219 1550 33720 43229 49330)	uc021zfz.1																			0				large_intestine(1)|lung(4)	5						c.(625-627)ccC>ccA		Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.							43	46	45					6																	139694455		2203	4300	6503	SO:0001819	synonymous_variant	10370				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr6:139694455G>T	U65093	CCDS5195.1, CCDS75530.1	6q23.3	2008-08-29			ENSG00000164442	ENSG00000164442			1987	protein-coding gene	gene with protein product		602937				8901575, 10552932	Standard	NM_006079		Approved	MRG1	uc021zfz.2	Q99967	OTTHUMG00000015691	ENST00000367651.2:c.627C>A	6.37:g.139694455G>T			Somatic				CITED2_uc021zga.1_Silent_p.P209P|CITED2_uc003qip.1_Silent_p.P209P|CITED2_uc021zgb.1_Silent_p.P209P	p.P209P	NM_001168389	NP_006070	WXS	Illumina GAIIx	Phase_I	Q99967	CITE2_HUMAN		GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)	1	717	-	Breast(32;0.226)		209					O95426|Q5VTF4	Silent	SNP	ENST00000367651.2	37	c.627C>A	CCDS5195.1																																																																																				0.647	CITED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042463.1			12	84	0	0	0	1	0	12	84					T	139694455	G	T	139694455	2	4	332	1	0	0	0	0	0	0	0	1	3440	1103	39	4		4	CITED2	6	139694455	Silent	SNP	G	TCGA-ET-A3DQ-01A-11D-A19J-08		139694455	31420612	1	5716											
CASP7	840	broad.mit.edu	37	10	115481474	115481474	+	Silent	SNP	G	G	T			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr10:115481474G>T	ENST00000345633.4	+	5	696	c.312G>T	c.(310-312)ctG>ctT	p.L104L	CASP7_ENST00000369315.1_Silent_p.L104L|CASP7_ENST00000369321.2_Silent_p.L137L|CASP7_ENST00000452490.2_Silent_p.L79L|CASP7_ENST00000369331.4_Silent_p.L104L|RP11-211N11.5_ENST00000448834.1_RNA|CASP7_ENST00000369318.3_Silent_p.L104L	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	104					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TCCGAAGCCTGGGTTTTGACG	0.498																																						uc010qsa.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(565-567)ctG>ctT		Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant alpha, mRNA.							227	198	207					10																	115481474		2203	4300	6503	SO:0001819	synonymous_variant	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115481474G>T	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.312G>T	10.37:g.115481474G>T			Somatic				CASP7_uc001lam.3_Silent_p.L104L|CASP7_uc001lan.3_Silent_p.L104L|CASP7_uc001lao.3_Silent_p.L137L|CASP7_uc001lap.3_Silent_p.L104L|CASP7_uc001laq.3_Silent_p.L104L|CASP7_uc010qsb.2_Silent_p.L79L	p.L189L			WXS	Illumina GAIIx	Phase_I	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	3	655	+		Colorectal(252;0.0946)|Breast(234;0.188)	104					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Silent	SNP	ENST00000345633.4	37	c.567G>T	CCDS7581.1																																																																																				0.498	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		21	115	0	0	0	1	0	21	115					T	115481474	G	T	115481474	2	4	332	1	0	0	0	0	0	0	0	1	2676	1335	47	4		4	CASP7	10	115481474	Silent	SNP	G	TCGA-ET-A3DQ-01A-11D-A19J-08		115481474	20053273	2	5717											
ZMYND15	84225	broad.mit.edu	37	17	4643964	4643964	+	Silent	SNP	C	C	A	rs372994654		TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr17:4643964C>A	ENST00000433935.1	+	2	178	c.121C>A	c.(121-123)Cgg>Agg	p.R41R	CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Silent_p.R41R|ZMYND15_ENST00000592813.1_Silent_p.R41R|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Silent_p.R41R	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	41					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGCCGCTGCCGGCAGCTGGA	0.612																																						uc002fyu.2																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(121-123)Cgg>Agg		Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.							58	57	57					17																	4643964		2203	4300	6503	SO:0001819	synonymous_variant	84225						zinc ion binding	g.chr17:4643964C>A	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.121C>A	17.37:g.4643964C>A			Somatic				CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Silent_p.R41R|ZMYND15_uc002fyt.2_Silent_p.R41R	p.R41R	NM_001136046	NP_001129518	WXS	Illumina GAIIx	Phase_I	Q9H091	ZMY15_HUMAN			0	151	+			41					B4DXY5|I3L296	Silent	SNP	ENST00000433935.1	37	c.121C>A	CCDS45584.1																																																																																				0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		3	39	0	0	0	1	0	3	39					A	4643964	C	A	4643964	2	1	332	1	0	0	0	0	0	0	0	1	17705	643	23	4		4	ZMYND15	17	4643964	Silent	SNP	C	TCGA-ET-A3DQ-01A-11D-A19J-08		4643964	76551246	3	5718											
KLHL14	57565	broad.mit.edu	37	18	30350455	30350455	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A3DQ-01A-11D-A19J-08	TCGA-ET-A3DQ-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d911ad12-c0cf-485b-acb4-13ce9e0385ea	c77ff260-24f6-413f-9bed-4f2975f54f41	g.chr18:30350455C>A	ENST00000359358.4	-	2	538	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	KLHL14_ENST00000358095.4_Missense_Mutation_p.D34Y|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	34	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGGGTCACGTCGCAAAACAGC	0.642																																						uc002kxm.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(100-102)Gac>Tac		Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.							73	52	59					18																	30350455		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350455C>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.100G>T	18.37:g.30350455C>A	ENSP00000352314:p.Asp34Tyr		Somatic					p.D34Y	NM_020805	NP_065856	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			1	488	-			34			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.100G>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	9.199	1.028088	0.19512	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.70399	-0.48;-0.48	4.29	3.41	0.39046	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.051225	0.85682	D	0.000000	D	0.83626	0.5295	M	0.92077	3.27	0.58432	D	0.999997	P	0.45428	0.858	P	0.55749	0.783	D	0.85964	0.1472	10	0.87932	D	0	.	10.7975	0.46470	0.0:0.9051:0.0:0.0949	.	34	Q9P2G3	KLH14_HUMAN	Y	34	ENSP00000352314:D34Y;ENSP00000350808:D34Y	ENSP00000350808:D34Y	D	-	1	0	KLHL14	28604453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.804000	0.69135	1.010000	0.39314	0.460000	0.39030	GAC		0.642	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			13	47	0	0	0	1	0	13	47					A	30350455	C	A	30350455	3	1	332	1	0	0	0	0	1	0	0	0	8370	884	31	4	1818	4	KLHL14	18	30350455	Missense_Mutation	SNP	C	TCGA-ET-A3DQ-01A-11D-A19J-08		30350455	47726793	4	5719											
NUP210L	91181	broad.mit.edu	37	1	154101784	154101784	+	Silent	SNP	G	G	A			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr1:154101784G>A	ENST00000368559.3	-	8	1118	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	NUP210L_ENST00000271854.3_Silent_p.C349C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	349					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATATATGGTGCAATTTGGGA	0.368																																						uc001fdw.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1045-1047)tgC>tgT		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							144	135	138					1																	154101784		1858	4103	5961	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154101784G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1047C>T	1.37:g.154101784G>A			Somatic				NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.C349C	p.C349C	NM_207308	NP_997191	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		7	1119	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		349					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1047C>T	CCDS41399.1																																																																																				0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		11	135	0	0	0	1	0	11	135					A	154101784	G	A	154101784	2	1	333	1	0	0	0	0	0	0	0	1	10761	1311	46	2		2	NUP210L	1	154101784	Silent	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		154101784	95148837	1	5720											
GPR113	165082	broad.mit.edu	37	2	26536378	26536378	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr2:26536378T>G	ENST00000311519.1	-	9	1339	c.1340A>C	c.(1339-1341)cAc>cCc	p.H447P	GPR113_ENST00000421160.2_Missense_Mutation_p.H378P|GPR113_ENST00000333478.6_Missense_Mutation_p.H248P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.H50P	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	447					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(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCCACGTGGCCAGCCTT	0.612																																						uc002rhe.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1339-1341)cAc>cCc		Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.							44	40	41					2																	26536378		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26536378T>G	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1340A>C	2.37:g.26536378T>G	ENSP00000307831:p.His447Pro		Somatic				GPR113_uc010yky.1_Missense_Mutation_p.H378P|GPR113_uc002rhb.1_Missense_Mutation_p.H50P|GPR113_uc010eyk.1_Missense_Mutation_p.H248P|GPR113_uc002rhc.1_Missense_Mutation_p.H50P|GPR113_uc002rhd.1_Non-coding_Transcript	p.H447P	NM_001145168	NP_001138640	WXS	Illumina GAIIx	Phase_I	Q8IZF5	GP113_HUMAN			8	1340	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		447					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1340A>C	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738121	0.30774	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.84	3.35	0.38373	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	T	0.60560	0.2278	M	0.67953	2.075	0.19775	N	0.999955	B;P;B;P	0.48911	0.014;0.917;0.157;0.816	B;B;B;B	0.43508	0.017;0.388;0.105;0.422	T	0.50541	-0.8816	9	0.44086	T	0.13	-3.6669	9.4221	0.38557	0.2929:0.0:0.0:0.7071	.	378;248;447;50	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	P	50;248;378;447	ENSP00000445729:H50P;ENSP00000327396:H248P;ENSP00000388537:H378P;ENSP00000307831:H447P	ENSP00000307831:H447P	H	-	2	0	GPR113	26389882	0.054000	0.20591	0.379000	0.26080	0.948000	0.59901	0.160000	0.16462	0.410000	0.25675	0.459000	0.35465	CAC		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		9	23	0	0	0	1	0	9	23					G	26536378	T	G	26536378	3	3	333	1	0	0	0	0	1	0	0	0	6630	1696	59	5	2008	5	GPR113	2	26536378	Missense_Mutation	SNP	T	TCGA-ET-A3DR-01A-11D-A19J-08		26536378	216662995	2	5721											
MED12L	116931	broad.mit.edu	37	3	151129080	151129080	+	Silent	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr3:151129080C>T	ENST00000474524.1	+	39	5858	c.5820C>T	c.(5818-5820)ggC>ggT	p.G1940G	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1940	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCACAGGGCTATACAATGT	0.502																																						uc003eyp.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5818-5820)ggC>ggT		Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.							77	69	72					3																	151129080		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129080C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5820C>T	3.37:g.151129080C>T			Somatic				MED12L_uc011bnz.2_Intron	p.G1940G	NM_053002	NP_443728	WXS	Illumina GAIIx	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		38	5949	+			1940			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5820C>T	CCDS33876.1																																																																																				0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		39	77	0	0	0	1	0	39	77					T	151129080	C	T	151129080	2	4	333	1	0	0	0	0	0	0	0	1	9429	784	28	2		2	MED12L	3	151129080	Silent	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		151129080	46893350	3	5722											
FBN2	2201	broad.mit.edu	37	5	127674746	127674746	+	Silent	SNP	G	G	A	rs78484531	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:127674746G>A	ENST00000508053.1	-	32	4325	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D	FBN2_ENST00000507835.1_De_novo_Start_OutOfFrame|FBN2_ENST00000262464.4_Silent_p.D1117D|FBN2_ENST00000508989.1_Silent_p.D1084D			P35556	FBN2_HUMAN	fibrillin 2	1117	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCTGCACTCGTCGATGTCTA	0.458													G|||	2	0.000399361	0.0015	0	5008	,	,		20198	0		0	False		,,,				2504	0					uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3349-3351)gaC>gaT		Homo sapiens fibrillin 2 (FBN2), mRNA.		G		20,4386	27.2+/-55.0	0,20,2183	76	69	71		3351	-0.4	1.0	5	dbSNP_132	71	0,8600		0,0,4300	no	coding-synonymous	FBN2	NM_001999.3		0,20,6483	AA,AG,GG		0.0,0.4539,0.1538		1117/2913	127674746	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674746G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3351C>T	5.37:g.127674746G>A			Somatic				FBN2_uc003kuv.2_Silent_p.D1084D	p.D1117D	NM_001999	NP_001990	WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	25	3790	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1117			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3351C>T	CCDS34222.1																																																																																				0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		45	88	0	0	0	1	0	45	88					A	127674746	G	A	127674746	2	1	333	1	0	0	0	0	0	0	0	1	5703	1136	40	1		1	FBN2	5	127674746	Silent	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		127674746	53240514	4	5723											
HSPA4	3308	broad.mit.edu	37	5	132400700	132400700	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr5:132400700C>T	ENST00000304858.2	+	2	425	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	46					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTAAGAATCGTTCAATTGG	0.343																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(136-138)Cgt>Tgt		Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.							182	185	184					5																	132400700		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132400700C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.136C>T	5.37:g.132400700C>T	ENSP00000302961:p.Arg46Cys		Somatic					p.R46C	NM_002154	NP_002145	WXS	Illumina GAIIx	Phase_I	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	417	+			46					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.136C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296215	0.95574	.	.	ENSG00000170606	ENST00000304858;ENST00000321956;ENST00000537974	T	0.01252	5.1	5.69	5.69	0.88448	.	0.059112	0.64402	D	0.000003	T	0.13243	0.0321	H	0.95850	3.73	0.80722	D	1	D	0.65815	0.995	P	0.56823	0.807	T	0.04115	-1.0976	10	0.87932	D	0	-1.4824	19.8209	0.96592	0.0:1.0:0.0:0.0	.	46	P34932	HSP74_HUMAN	C	46	ENSP00000302961:R46C	ENSP00000302961:R46C	R	+	1	0	HSPA4	132428599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.473000	0.81007	2.688000	0.91661	0.650000	0.86243	CGT		0.343	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		6	157	0	0	0	1	0	6	157					T	132400700	C	T	132400700	3	4	333	1	0	0	0	0	1	0	0	0	7412	884	31	1	142	1	HSPA4	5	132400700	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	4725954	132400700	48514560	5	5724											
SASH1	23328	broad.mit.edu	37	6	148840738	148840738	+	Silent	SNP	C	C	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr6:148840738C>G	ENST00000367467.3	+	10	1393	c.918C>G	c.(916-918)ctC>ctG	p.L306L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	306					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGTCCGCCCTCTACTCTGGCG	0.542																																						uc003qme.1																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(916-918)ctC>ctG		Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.							80	82	81					6																	148840738		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148840738C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.918C>G	6.37:g.148840738C>G			Somatic				SASH1_uc011eeb.1_Silent_p.L67L	p.L306L	NM_015278	NP_056093	WXS	Illumina GAIIx	Phase_I	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	9	1393	+		Ovarian(120;0.0169)	306					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.918C>G	CCDS5212.1																																																																																				0.542	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		39	43	0	0	0	1	0	39	43					G	148840738	C	G	148840738	2	3	333	1	0	0	0	0	0	0	0	1	13848	900	32	4		4	SASH1	6	148840738	Silent	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		148840738	22274329	6	5725											
MLL5	55904	broad.mit.edu	37	7	104715089	104715089	+	Splice_Site	SNP	G	G	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr7:104715089G>T	ENST00000311117.3	+	8	1101		c.e8-1		KMT2E_ENST00000334877.4_Splice_Site|KMT2E_ENST00000334914.7_Splice_Site|KMT2E_ENST00000476671.1_Splice_Site|KMT2E_ENST00000257745.4_Splice_Site	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTTGTCTGAAGATGGTGATAC	0.333																																						uc003vcm.3																			0				NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						c.e8-1		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.							128	121	124					7																	104715089		2203	4300	6503	SO:0001630	splice_region_variant	55904				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104715089G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.557-1G>T	7.37:g.104715089G>T			Somatic				MLL5_uc010lja.1_Splice_Site_p.D40_splice|MLL5_uc010ljb.1_Splice_Site_p.D186_splice|MLL5_uc003vcl.3_Splice_Site_p.D186_splice|MLL5_uc010ljc.3_Splice_Site_p.D186_splice|MLL5_uc003vco.1_5'Flank|MLL5_uc010ljd.1_5'Flank	p.D186_splice	NM_182931	NP_891847	WXS	Illumina GAIIx	Phase_I	Q8IZD2	MLL5_HUMAN			8	1091	+			186					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Splice_Site	SNP	ENST00000311117.3	37	c.557_splice	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127440	0.77549	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000495267;ENST00000476671;ENST00000537308	.	.	.	5.44	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0214	0.64558	0.0727:0.0:0.9273:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL5	104502325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.428000	0.97476	1.301000	0.44836	0.591000	0.81541	.		0.333	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		Intron	66	130	0	0	0	1	0	66	130					T	104715089	G	T	104715089	5	4	333	1	0	0	0	0	0	0	1	0	9624	956	33	4	578	4	MLL5	7	104715089	Splice_Site	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		104715089	54423574	7	5726											
APBA1	320	broad.mit.edu	37	9	72082746	72082746	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr9:72082746C>T	ENST00000265381.4	-	5	1697	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CACCTTGATCCTGCTTACGGC	0.527																																						uc004ahh.2																			0		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1474-1476)aGg>aAg		Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.							163	137	146					9																	72082746		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72082746C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1475G>A	9.37:g.72082746C>T	ENSP00000265381:p.Arg492Lys		Somatic					p.R492K	NM_001163	NP_001154	WXS	Illumina GAIIx	Phase_I	Q02410	APBA1_HUMAN			4	1751	-			492			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1475G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261089	0.80246	.	.	ENSG00000107282	ENST00000265381	T	0.56103	0.48	5.87	5.87	0.94306	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.094572	0.64402	D	0.000002	T	0.58177	0.2104	L	0.39633	1.23	0.80722	D	1	P	0.47762	0.9	P	0.49799	0.622	T	0.58808	-0.7571	10	0.66056	D	0.02	-17.4655	20.2707	0.98476	0.0:1.0:0.0:0.0	.	492	Q02410	APBA1_HUMAN	K	492	ENSP00000265381:R492K	ENSP00000265381:R492K	R	-	2	0	APBA1	71272566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.882000	0.63121	2.792000	0.96026	0.650000	0.86243	AGG		0.527	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		8	235	0	0	0	1	0	8	235					T	72082746	C	T	72082746	3	4	333	1	0	0	0	0	1	0	0	0	756	681	24	2	1074	2	APBA1	9	72082746	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		72082746	69130685	8	5727											
PRKG1	5592	broad.mit.edu	37	10	54011361	54011361	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr10:54011361C>G	ENST00000401604.2	+	10	1257	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	PRKG1_ENST00000373985.1_Missense_Mutation_p.L343V|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L73V|PRKG1_ENST00000373980.4_Missense_Mutation_p.L370V			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	355					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)		CTTCGCCAACCTGAAGCTGTC	0.413																																						uc001jjo.3																			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.(1108-1110)Ctg>Gtg		Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 2, mRNA.							156	143	147					10																	54011361		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54011361C>G		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1063C>G	10.37:g.54011361C>G	ENSP00000384200:p.Leu355Val		Somatic				PRKG1_uc001jjm.3_Missense_Mutation_p.L355V|PRKG1_uc009xow.2_Missense_Mutation_p.L73V	p.L370V	NM_006258	NP_006249	WXS	Illumina GAIIx	Phase_I	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	9	1225	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	355			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1108C>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	6.621	0.482996	0.12581	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193	T;T;T	0.08102	3.13;3.13;3.13	6.14	4.09	0.47781	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.03739	0.0106	N	0.08118	0	0.58432	D	0.999996	B;B;B	0.25441	0.009;0.005;0.126	B;B;B	0.21917	0.008;0.033;0.037	T	0.30179	-0.9987	10	0.05721	T	0.95	-9.4954	11.0403	0.47827	0.0:0.8293:0.0:0.1707	.	73;370;355	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	V	355;343;370;73	ENSP00000384200:L355V;ENSP00000363097:L343V;ENSP00000363092:L370V	ENSP00000327642:L73V	L	+	1	2	PRKG1	53681367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.638000	0.54332	0.741000	0.32674	0.637000	0.83480	CTG		0.413	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				27	90	0	0	0	1	0	27	90					G	54011361	C	G	54011361	3	3	333	1	0	0	0	0	1	0	0	0	12522	680	24	4	1416	4	PRKG1	10	54011361	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		54011361	81523386	9	5728											
SLC25A45	283130	broad.mit.edu	37	11	65147382	65147382	+	Missense_Mutation	SNP	G	G	A	rs377005228		TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr11:65147382G>A	ENST00000527174.1	-	3	164	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SLC25A45_ENST00000398802.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000526432.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000417511.2_5'UTR			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	37					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACGATGCCCCGGTAGGTGGTC	0.627																																						uc001odr.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(109-111)Cgg>Tgg		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.		G	,TRP/ARG	0,4102		0,0,2051	61	68	66		,109	4.4	1.0	11		66	3,8393		0,3,4195	no	utr-5,missense	SLC25A45	NM_001077241.1,NM_182556.2	,101	0,3,6246	AA,AG,GG		0.0357,0.0,0.024	,probably-damaging	,37/289	65147382	3,12495	2051	4198	6249	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65147382G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"Solute carriers"	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.109C>T	11.37:g.65147382G>A	ENSP00000435489:p.Arg37Trp		Somatic				SLC25A45_uc009yqi.1_Missense_Mutation_p.R37W|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001ods.1_5'UTR|SLC25A45_uc001odt.1_5'UTR	p.R37W	NM_182556	NP_001070709	WXS	Illumina GAIIx	Phase_I	Q8N413	S2545_HUMAN			3	313	-			37					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.109C>T	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896045	0.72639	0.0	3.57E-4	ENSG00000162241	ENST00000527174;ENST00000398802;ENST00000526432;ENST00000530936	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.38	4.38	0.52667	Mitochondrial carrier domain (2);	.	.	.	.	D	0.88687	0.6504	M	0.89904	3.07	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.55303	0.761;0.773	D	0.91161	0.4961	9	0.66056	D	0.02	.	14.4776	0.67557	0.0:0.0:1.0:0.0	.	37;37	E9PJQ3;Q8N413	.;S2545_HUMAN	W	37	ENSP00000435489:R37W;ENSP00000381782:R37W;ENSP00000435547:R37W;ENSP00000431642:R37W	ENSP00000381782:R37W	R	-	1	2	SLC25A45	64903958	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.116000	0.64661	2.251000	0.74343	0.561000	0.74099	CGG		0.627	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		24	58	0	0	0	1	0	24	58					A	65147382	G	A	65147382	3	1	333	1	0	0	0	0	1	0	0	0	14510	1115	39	1	773	1	SLC25A45	11	65147382	Missense_Mutation	SNP	G	TCGA-ET-A3DR-01A-11D-A19J-08		65147382	69859134	10	5729											
XPO4	64328	broad.mit.edu	37	13	21374986	21374986	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:21374986T>C	ENST00000255305.6	-	14	2032	c.1961A>G	c.(1960-1962)gAa>gGa	p.E654G	XPO4_ENST00000400602.2_Missense_Mutation_p.E654G			Q9C0E2	XPO4_HUMAN	exportin 4	654					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATACAGTTTTTCATCCACCAG	0.368																																						uc001unq.4																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1960-1962)gAa>gGa		Homo sapiens exportin 4 (XPO4), mRNA.							162	153	156					13																	21374986		1823	4083	5906	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21374986T>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1961A>G	13.37:g.21374986T>C	ENSP00000255305:p.Glu654Gly		Somatic					p.E654G	NM_022459	NP_071904	WXS	Illumina GAIIx	Phase_I	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	13	1997	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	654					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1961A>G	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198152	0.79015	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.51817	0.69;0.69	5.65	4.48	0.54585	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.66351	0.943	T	0.60611	-0.7229	10	0.31617	T	0.26	-13.8781	11.405	0.49892	0.0:0.0706:0.0:0.9294	.	654	Q9C0E2	XPO4_HUMAN	G	654;524;654	ENSP00000383444:E654G;ENSP00000255305:E654G	ENSP00000255305:E654G	E	-	2	0	XPO4	20272986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	0.981000	0.38548	0.533000	0.62120	GAA		0.368	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		21	293	0	0	0	1	0	21	293					C	21374986	T	C	21374986	3	2	333	1	0	0	0	0	1	0	0	0	17443	1783	62	3	1534	3	XPO4	13	21374986	Missense_Mutation	SNP	T	TCGA-ET-A3DR-01A-11D-A19J-08		21374986	93794892	11	5730											
B3GALTL	145173	broad.mit.edu	37	13	31848757	31848757	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr13:31848757C>A	ENST00000343307.4	+	9	921	c.772C>A	c.(772-774)Ccg>Acg	p.P258T	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	258					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTCTTTTCTACCGCTTTGTGT	0.413																																						uc010aaz.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(772-774)Ccg>Acg		Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.							139	126	130					13																	31848757		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31848757C>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.772C>A	13.37:g.31848757C>A	ENSP00000343002:p.Pro258Thr		Somatic				B3GALTL_uc001utn.4_Non-coding_Transcript	p.P258T	NM_194318	NP_919299	WXS	Illumina GAIIx	Phase_I	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	8	882	+		Lung SC(185;0.0257)	258					A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.772C>A	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677723	0.47886	.	.	ENSG00000187676	ENST00000343307	T	0.73047	-0.71	5.62	5.62	0.85841	.	0.111142	0.64402	D	0.000008	T	0.79787	0.4506	M	0.73598	2.24	0.80722	D	1	D	0.65815	0.995	P	0.54664	0.758	T	0.79198	-0.1902	10	0.38643	T	0.18	-14.6557	16.5692	0.84607	0.0:1.0:0.0:0.0	.	258	Q6Y288	B3GLT_HUMAN	T	258	ENSP00000343002:P258T	ENSP00000343002:P258T	P	+	1	0	B3GALTL	30746757	0.952000	0.32445	0.160000	0.22671	0.323000	0.28346	4.362000	0.59467	2.635000	0.89317	0.655000	0.94253	CCG		0.413	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		5	131	0	0	0	1	0	5	131					A	31848757	C	A	31848757	3	1	333	1	0	0	0	0	1	0	0	0	1252	507	18	4	806	4	B3GALTL	13	31848757	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	10473771	31848757	83321121	12	5731											
DCAKD	79877	broad.mit.edu	37	17	43101857	43101857	+	Missense_Mutation	SNP	C	C	T	rs146466512	byFrequency	TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:43101857C>T	ENST00000452796.2	-	4	895	c.640G>A	c.(640-642)Gct>Act	p.A214T	DCAKD_ENST00000588499.1_Missense_Mutation_p.A214T|DCAKD_ENST00000342350.5_Missense_Mutation_p.A214T			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	214					coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GCAATGGCAGCGAGCCCTGTG	0.617																																						uc010daa.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(640-642)Gct>Act		Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 2, mRNA.		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	67	60	63		640,640	3.8	0.5	17	dbSNP_134	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	DCAKD	NM_001128631.1,NM_024819.4	58,58	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign,benign	214/232,214/232	43101857	5,13001	2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43101857C>T	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.640G>A	17.37:g.43101857C>T	ENSP00000413483:p.Ala214Thr		Somatic				DCAKD_uc010dab.1_Missense_Mutation_p.A214T|DCAKD_uc002ihx.2_Missense_Mutation_p.A214T	p.A214T	NM_001128631	NP_079095	WXS	Illumina GAIIx	Phase_I	Q8WVC6	DCAKD_HUMAN			4	812	-		Prostate(33;0.155)	214					A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.640G>A	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881456	0.33255	2.27E-4	4.65E-4	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.45668	0.89;0.89	4.76	3.77	0.43336	.	0.320112	0.38272	N	0.001753	T	0.30759	0.0775	L	0.38838	1.175	0.58432	D	0.999996	B	0.24721	0.11	B	0.13407	0.009	T	0.07731	-1.0757	10	0.21540	T	0.41	-6.0918	13.5037	0.61471	0.0:0.9227:0.0:0.0773	.	214	Q8WVC6	DCAKD_HUMAN	T	214	ENSP00000341504:A214T;ENSP00000413483:A214T	ENSP00000341504:A214T	A	-	1	0	DCAKD	40457383	0.012000	0.17670	0.529000	0.27951	0.836000	0.47400	2.154000	0.42291	2.472000	0.83506	0.542000	0.68232	GCT		0.617	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		23	77	0	0	0	1	0	23	77					T	43101857	C	T	43101857	3	4	333	1	0	0	0	0	1	0	0	0	4279	768	27	1	59	1	DCAKD	17	43101857	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08		43101857	38093353	13	5732											
B4GALNT2	124872	broad.mit.edu	37	17	47247083	47247083	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:47247083C>T	ENST00000300404.2	+	11	1753	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A505V|RP11-708H21.4_ENST00000575159.1_lincRNA|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A479V	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	565					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)			CTCCAATGTGCCGCATAAAGG	0.512																																					GBM(124;244 1635 8663 18097 33175)	uc002ion.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1693-1695)gCc>gTc		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.							64	52	56					17																	47247083		2203	4300	6503	SO:0001583	missense	124872				UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47247083C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1694C>T	17.37:g.47247083C>T	ENSP00000300404:p.Ala565Val		Somatic				B4GALNT2_uc010wlt.1_Missense_Mutation_p.A479V|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A505V	p.A565V	NM_153446	NP_001152860	WXS	Illumina GAIIx	Phase_I	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		10	1753	+			565					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1694C>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166068	0.38217	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.21191	2.02;2.02;2.32	5.79	-0.177	0.13307	.	1.098330	0.06882	N	0.802683	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.082;0.085	B;B	0.21917	0.037;0.016	T	0.37407	-0.9707	10	0.17832	T	0.49	-1.9854	0.7377	0.00968	0.1723:0.3494:0.1469:0.3313	.	505;565	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	V	479;505;565	ENSP00000425510:A479V;ENSP00000377022:A505V;ENSP00000300404:A565V	ENSP00000300404:A565V	A	+	2	0	B4GALNT2	44602082	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.708000	0.25719	0.351000	0.24027	0.561000	0.74099	GCC		0.512	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		4	56	0	0	0	1	0	4	56					T	47247083	C	T	47247083	3	4	333	1	0	0	0	0	1	0	0	0	1267	739	26	2	1754	2	B4GALNT2	17	47247083	Missense_Mutation	SNP	C	TCGA-ET-A3DR-01A-11D-A19J-08	4145226	47247083	33948127	14	5733											
KIAA0195	9772	broad.mit.edu	37	17	73489653	73489653	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chr17:73489653A>G	ENST00000314256.7	+	17	2562	c.2168A>G	c.(2167-2169)tAc>tGc	p.Y723C	KIAA0195_ENST00000579208.1_Missense_Mutation_p.Y374C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.Y733C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	723						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGACATCTACCCTCTCTCG	0.602																																						uc010wsa.2																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(2197-2199)tAc>tGc		Homo sapiens KIAA0195 (KIAA0195), mRNA.							107	100	102					17																	73489653		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489653A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2168A>G	17.37:g.73489653A>G	ENSP00000313885:p.Tyr723Cys		Somatic				KIAA0195_uc002jnz.4_Missense_Mutation_p.Y723C|KIAA0195_uc010wsb.2_Missense_Mutation_p.Y363C|KIAA0195_uc002job.4_5'Flank	p.Y733C	NM_014738	NP_055553	WXS	Illumina GAIIx	Phase_I	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	2390	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		723					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.2198A>G	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672762	0.47781	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.82526	-1.62;-1.62	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.995	D	0.85475	0.1175	10	0.38643	T	0.18	-36.7903	15.576	0.76387	1.0:0.0:0.0:0.0	.	733;733;723	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	C	723;733	ENSP00000313885:Y723C;ENSP00000364397:Y733C	ENSP00000313885:Y723C	Y	+	2	0	KIAA0195	71001248	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.236000	0.95360	2.085000	0.62840	0.459000	0.35465	TAC		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		44	72	0	0	0	1	0	44	72					G	73489653	A	G	73489653	3	3	333	1	0	0	0	0	1	0	0	0	8160	391	14	3	2230	3	KIAA0195	17	73489653	Missense_Mutation	SNP	A	TCGA-ET-A3DR-01A-11D-A19J-08	26242570	73489653	7705557	15	5734											
KLHL4	56062	broad.mit.edu	37	X	86919891	86919891	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DR-01A-11D-A19J-08	TCGA-ET-A3DR-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72145918-7810-499b-bbef-00874eb19c49	4edfa5f1-438e-4afb-8fa2-a02941c1bc59	g.chrX:86919891A>G	ENST00000373119.4	+	10	2198	c.2053A>G	c.(2053-2055)Aac>Gac	p.N685D	KLHL4_ENST00000373114.4_Missense_Mutation_p.N685D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	685						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACTTATTTGAACACAGTTGA	0.378																																						uc004efa.2																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(2053-2055)Aac>Gac		Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.							157	109	125					X																	86919891		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86919891A>G	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2053A>G	X.37:g.86919891A>G	ENSP00000362211:p.Asn685Asp		Somatic				KLHL4_uc004efb.2_Missense_Mutation_p.N685D	p.N685D	NM_057162	NP_476503	WXS	Illumina GAIIx	Phase_I	Q9C0H6	KLHL4_HUMAN			9	2235	+			685					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2053A>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428629	0.43122	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79554	-1.28;-1.28	3.95	3.95	0.45737	Galactose oxidase, beta-propeller (1);	0.344414	0.35525	N	0.003143	T	0.66127	0.2758	N	0.25094	0.71	0.35606	D	0.808276	B;B	0.20164	0.012;0.042	B;B	0.26770	0.073;0.03	T	0.64850	-0.6310	10	0.29301	T	0.29	.	6.8404	0.23959	0.884:0.0:0.116:0.0	.	685;685	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	D	685	ENSP00000362211:N685D;ENSP00000362206:N685D	ENSP00000362206:N685D	N	+	1	0	KLHL4	86806547	1.000000	0.71417	0.809000	0.32408	0.858000	0.48976	4.881000	0.63114	1.559000	0.49555	0.339000	0.21740	AAC		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			36	42	0	0	0	1	0	36	42					G	86919891	A	G	86919891	3	3	333	1	0	0	0	0	1	0	0	0	8391	246	9	3	2091	3	KLHL4	23	86919891	Missense_Mutation	SNP	A	TCGA-ET-A3DR-01A-11D-A19J-08		86919891	68350669	16	5735											
GOLGB1	2804	broad.mit.edu	37	3	121415620	121415620	+	Silent	SNP	G	G	A			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr3:121415620G>A	ENST00000340645.5	-	13	3860	c.3735C>T	c.(3733-3735)gaC>gaT	p.D1245D	GOLGB1_ENST00000393667.3_Silent_p.D1250D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1245					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)	p.D1245D(1)		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)		GGAGTTTTCCGTCTATGGATT	0.438																																						uc010hrc.3																			1	Substitution - coding silent(1)	p.D1245D(1)	central_nervous_system(1)	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.(3748-3750)gaC>gaT		Homo sapiens golgin B1 (GOLGB1), mRNA.							204	184	191					3																	121415620		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121415620G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3735C>T	3.37:g.121415620G>A			Somatic				GOLGB1_uc003eei.4_Silent_p.D1245D|GOLGB1_uc003eej.4_Silent_p.D1211D|GOLGB1_uc021xcy.1_Silent_p.D1170D|GOLGB1_uc011bjm.1_Silent_p.D1131D|GOLGB1_uc010hrd.1_Silent_p.D1209D	p.D1250D	NM_004487	NP_004478	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	12	3876	-			1245					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.3750C>T	CCDS3004.1																																																																																				0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		21	72	0	0	0	1	0	21	72					A	121415620	G	A	121415620	2	1	334	1	0	0	0	0	0	0	0	1	6565	1136	40	1		1	GOLGB1	3	121415620	Silent	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		121415620	76606810	1	5736											
C5orf42	65250	broad.mit.edu	37	5	37176053	37176053	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr5:37176053G>A	ENST00000508244.1	-	30	6029	c.5936C>T	c.(5935-5937)aCt>aTt	p.T1979I	C5orf42_ENST00000425232.2_Missense_Mutation_p.T1979I|C5orf42_ENST00000274258.7_Missense_Mutation_p.T859I			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1979						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGATTGAGGAGTGGTATGCCC	0.333																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(5935-5937)aCt>aTt		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							207	220	216					5																	37176053		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37176053G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5936C>T	5.37:g.37176053G>A	ENSP00000421690:p.Thr1979Ile		Somatic				C5orf42_uc011coy.1_Missense_Mutation_p.T479I|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.T1054I|C5orf42_uc003jkr.1_Missense_Mutation_p.T12I	p.T1979I	NM_023073	NP_075561	WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		30	6167	-	all_lung(31;0.000616)		1979					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.5936C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	0.764	-0.768349	0.02974	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20463	2.07;2.07;2.08;2.07	5.25	-1.26	0.09376	.	1.673320	0.03314	N	0.190925	T	0.13030	0.0316	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.28396	-1.0045	10	0.09338	T	0.73	.	9.2095	0.37309	0.6025:0.0:0.3975:0.0	.	1979;859	E9PH94;Q9H799	.;CE042_HUMAN	I	1979;1979;859;1027;859	ENSP00000421690:T1979I;ENSP00000389014:T1979I;ENSP00000274258:T859I;ENSP00000424223:T1027I	ENSP00000274258:T859I	T	-	2	0	C5orf42	37211810	0.065000	0.20965	0.000000	0.03702	0.144000	0.21451	0.471000	0.22100	-0.362000	0.08113	-0.150000	0.13652	ACT		0.333	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		8	159	0	0	0	1	0	8	159					A	37176053	G	A	37176053	3	1	334	1	0	0	0	0	1	0	0	0	2301	1029	36	2	3745	2	C5orf42	5	37176053	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		37176053	143739207	2	5737											
ZNF251	90987	broad.mit.edu	37	8	145947459	145947459	+	Missense_Mutation	SNP	G	G	C	rs201009122		TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr8:145947459G>C	ENST00000292562.7	-	5	1861	c.1586C>G	c.(1585-1587)tCc>tGc	p.S529C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	529					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)		TGTGAGGCTGGAGCCATGAAC	0.522																																						uc003zdv.4																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1585-1587)tCc>tGc		Homo sapiens zinc finger protein 251 (ZNF251), mRNA.		G	CYS/SER	1,4279		0,1,2139	93	99	97		1586	2.2	0.1	8		97	2,8572		0,2,4285	yes	missense	ZNF251	NM_138367.1	112	0,3,6424	CC,CG,GG		0.0233,0.0234,0.0233	probably-damaging	529/672	145947459	3,12851	2140	4287	6427	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947459G>C	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1586C>G	8.37:g.145947459G>C	ENSP00000292562:p.Ser529Cys		Somatic					p.S529C	NM_138367	NP_612376	WXS	Illumina GAIIx	Phase_I	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)	4	1842	-	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)		529					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1586C>G	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244261	0.39697	2.34E-4	2.33E-4	ENSG00000198169	ENST00000292562	T	0.18960	2.18	2.15	2.15	0.27550	.	.	.	.	.	T	0.37598	0.1009	M	0.83953	2.67	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.15065	-1.0450	9	0.72032	D	0.01	.	8.2269	0.31575	0.0:0.0:0.7623:0.2377	.	529	Q9BRH9	ZN251_HUMAN	C	529	ENSP00000292562:S529C	ENSP00000292562:S529C	S	-	2	0	ZNF251	145918268	0.026000	0.19158	0.100000	0.21137	0.133000	0.20885	1.131000	0.31406	1.521000	0.48983	0.563000	0.77884	TCC		0.522	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		3	59	0	0	0	1	0	3	59					C	145947459	G	C	145947459	3	2	334	1	0	0	0	0	1	0	0	0	17793	1174	41	4	433	4	ZNF251	8	145947459	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		145947459	416563	3	5738											
LRSAM1	90678	broad.mit.edu	37	9	130224635	130224635	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr9:130224635C>T	ENST00000323301.4	+	8	1115	c.511C>T	c.(511-513)Cac>Tac	p.H171Y	LRSAM1_ENST00000373322.1_Missense_Mutation_p.H171Y|LRSAM1_ENST00000373324.4_Missense_Mutation_p.H171Y|LRSAM1_ENST00000300417.6_Missense_Mutation_p.H171Y	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	171					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GATGCTGGCTCACGTTCGAAC	0.577																																						uc004brb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(511-513)Cac>Tac		Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.							159	127	138					9																	130224635		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130224635C>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.511C>T	9.37:g.130224635C>T	ENSP00000322937:p.His171Tyr		Somatic				LRSAM1_uc010mxk.2_Missense_Mutation_p.H171Y|LRSAM1_uc004brc.2_Missense_Mutation_p.H171Y|LRSAM1_uc004brd.2_Missense_Mutation_p.H171Y	p.H171Y	NM_001005373	NP_612370	WXS	Illumina GAIIx	Phase_I	Q6UWE0	LRSM1_HUMAN			8	883	+			171					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.511C>T	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665309	0.47677	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.75	5.75	0.90469	.	0.221750	0.46758	D	0.000264	T	0.49558	0.1564	N	0.13043	0.29	0.41182	D	0.986245	D;D	0.69078	0.992;0.997	P;D	0.79108	0.811;0.992	T	0.40021	-0.9585	10	0.15499	T	0.54	-21.0994	15.4523	0.75282	0.0:1.0:0.0:0.0	.	171;171	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	Y	171	ENSP00000300417:H171Y;ENSP00000362421:H171Y;ENSP00000322937:H171Y;ENSP00000362419:H171Y	ENSP00000300417:H171Y	H	+	1	0	LRSAM1	129264456	0.956000	0.32656	0.702000	0.30337	0.997000	0.91878	2.438000	0.44837	2.725000	0.93324	0.655000	0.94253	CAC		0.577	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		14	52	0	0	0	1	0	14	52					T	130224635	C	T	130224635	3	4	334	1	0	0	0	0	1	0	0	0	9043	826	29	2	537	2	LRSAM1	9	130224635	Missense_Mutation	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08		130224635	10988796	4	5739											
BTAF1	9044	broad.mit.edu	37	10	93748982	93748982	+	Silent	SNP	T	T	C			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr10:93748982T>C	ENST00000265990.6	+	20	2807	c.2499T>C	c.(2497-2499)agT>agC	p.S833S	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	833					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTTAGATAGTAAACGACAGC	0.378																																						uc001khr.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(2497-2499)agT>agC		Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.							77	75	76					10																	93748982		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93748982T>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2499T>C	10.37:g.93748982T>C			Somatic				BTAF1_uc001khs.1_Silent_p.S503S|BTAF1_uc001kht.1_Silent_p.S271S	p.S833S	NM_003972	NP_003963	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			19	2597	+		Colorectal(252;0.0846)	833					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.2499T>C	CCDS7419.1																																																																																				0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		23	44	0	0	0	1	0	23	44					C	93748982	T	C	93748982	2	2	334	1	0	0	0	0	0	0	0	1	1536	1635	57	3		3	BTAF1	10	93748982	Silent	SNP	T	TCGA-ET-A3DS-01A-11D-A19J-08		93748982	41785765	5	5740											
QSER1	79832	broad.mit.edu	37	11	32953853	32953853	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr11:32953853T>G	ENST00000399302.2	+	4	997	c.662T>G	c.(661-663)gTa>gGa	p.V221G	QSER1_ENST00000527788.1_Missense_Mutation_p.V221G	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	221	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTCAAGTGTAGTTAATTTT	0.438																																						uc001mty.3																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(661-663)gTa>gGa		Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.							61	57	58					11																	32953853		1882	4100	5982	SO:0001583	missense	79832							g.chr11:32953853T>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.662T>G	11.37:g.32953853T>G	ENSP00000382241:p.Val221Gly		Somatic				QSER1_uc001mtz.1_Missense_Mutation_p.V221G|QSER1_uc001mua.3_5'Flank	p.V221G	NM_001076786	NP_001070254	WXS	Illumina GAIIx	Phase_I	Q2KHR3	QSER1_HUMAN			3	929	+	Breast(20;0.158)		221			Ser-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.662T>G	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798916	0.31777	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.23552	2.28;1.9	4.98	3.83	0.44106	.	0.499077	0.17421	N	0.174833	T	0.12732	0.0309	N	0.04880	-0.145	0.27417	N	0.954405	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19943	-1.0290	10	0.23302	T	0.38	.	11.87	0.52515	0.0:0.0:0.468:0.532	.	221;221	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	G	221	ENSP00000382241:V221G;ENSP00000432766:V221G	ENSP00000078652:V221G	V	+	2	0	QSER1	32910429	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	2.934000	0.48956	0.830000	0.34757	0.533000	0.62120	GTA		0.438	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		9	37	0	0	0	1	0	9	37					G	32953853	T	G	32953853	3	3	334	1	0	0	0	0	1	0	0	0	12882	1638	57	5	668	5	QSER1	11	32953853	Missense_Mutation	SNP	T	TCGA-ET-A3DS-01A-11D-A19J-08		32953853	102052663	6	5741											
CCDC62	84660	broad.mit.edu	37	12	123276650	123276650	+	Missense_Mutation	SNP	G	G	T	rs375333901		TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr12:123276650G>T	ENST00000253079.6	+	6	1098	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.D252Y|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	252					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.D252N(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCCTGCACGATGAATTGCT	0.393																																						uc001udc.3																			2	Substitution - Missense(2)	p.D252N(3)	lung(2)	breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(754-756)Gat>Tat		Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.							103	99	100					12																	123276650		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123276650G>T		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.754G>T	12.37:g.123276650G>T	ENSP00000253079:p.Asp252Tyr		Somatic				CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_Missense_Mutation_p.D67Y	p.D252Y	NM_201435	NP_958843	WXS	Illumina GAIIx	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	5	916	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		252					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.754G>T	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608830	0.66558	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.34472	1.37;1.36	5.11	5.11	0.69529	.	0.220251	0.33792	N	0.004556	T	0.57066	0.2028	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.59225	-0.7494	10	0.72032	D	0.01	-23.1263	14.4063	0.67083	0.0:0.0:1.0:0.0	.	252;252	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	Y	252	ENSP00000253079:D252Y;ENSP00000376236:D252Y	ENSP00000253079:D252Y	D	+	1	0	CCDC62	121842603	0.998000	0.40836	0.850000	0.33497	0.971000	0.66376	3.653000	0.54446	2.529000	0.85273	0.585000	0.79938	GAT		0.393	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		17	85	0	0	0	1	0	17	85					T	123276650	G	T	123276650	3	4	334	1	0	0	0	0	1	0	0	0	2833	1058	37	4	776	4	CCDC62	12	123276650	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		123276650	10575245	7	5742											
TSHR	7253	broad.mit.edu	37	14	81609809	81609809	+	Silent	SNP	C	C	A	rs372224556		TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr14:81609809C>A	ENST00000541158.2	+	11	1729	c.1407C>A	c.(1405-1407)ctC>ctA	p.L469L	TSHR_ENST00000298171.2_Silent_p.L469L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	469					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACCTGCTCCTCATCGCCTCTG	0.537			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1405-1407)ctC>ctA		Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	Thyrotropin Alfa(DB00024)						683	525	578					14																	81609809		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609809C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1407C>A	14.37:g.81609809C>A			Somatic					p.L469L	NM_000369	NP_000360	WXS	Illumina GAIIx	Phase_I	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	9	1563	+			469					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1407C>A	CCDS9872.1																																																																																				0.537	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		42	69	0	0	0	1	0	42	69					A	81609809	C	A	81609809	2	1	334	1	0	0	0	0	0	0	0	1	16619	813	29	4		4	TSHR	14	81609809	Silent	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08		81609809	25739731	8	5743											
KCNAB3	9196	broad.mit.edu	37	17	7829388	7829388	+	Silent	SNP	G	G	A			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chr17:7829388G>A	ENST00000303790.2	-	5	437	c.438C>T	c.(436-438)agC>agT	p.S146S	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	146					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCCAACCTTTGCTCTTGAGGA	0.478																																						uc002gjm.1																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(436-438)agC>agT		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.							135	122	126					17																	7829388		2203	4300	6503	SO:0001819	synonymous_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7829388G>A	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"Potassium channels", "Aldo-keto reductases"	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.438C>T	17.37:g.7829388G>A			Somatic				KCNAB3_uc010vul.1_Non-coding_Transcript	p.S146S	NM_004732	NP_004723	WXS	Illumina GAIIx	Phase_I	O43448	KCAB3_HUMAN			4	438	-		Prostate(122;0.157)	146					Q4VAW0	Silent	SNP	ENST00000303790.2	37	c.438C>T	CCDS11124.1																																																																																				0.478	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		11	118	0	0	0	1	0	11	118					A	7829388	G	A	7829388	2	1	334	1	0	0	0	0	0	0	0	1	8011	1310	46	2		2	KCNAB3	17	7829388	Silent	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		7829388	73365822	9	5744											
SH3KBP1	30011	broad.mit.edu	37	X	19560130	19560130	+	Missense_Mutation	SNP	G	G	A	rs369126109		TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chrX:19560130G>A	ENST00000397821.3	-	16	2095	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	SH3KBP1_ENST00000379716.1_Missense_Mutation_p.A364V|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.A565V|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.A341V	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	602					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCTGCTGGCCGCAGGCTCCAT	0.627																																						uc004czm.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(1804-1806)gCg>gTg		Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA	0,3835		0,0,1632,571	79	77	78		1694,1091,1805	-6.8	0.0	X		78	1,6727		0,1,2427,1872	no	missense,missense,missense	SH3KBP1	NM_001024666.2,NM_001184960.1,NM_031892.2	64,64,64	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	565/629,364/428,602/666	19560130	1,10562	2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19560130G>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1805C>T	X.37:g.19560130G>A	ENSP00000380921:p.Ala602Val		Somatic				SH3KBP1_uc011mje.2_Missense_Mutation_p.A341V|SH3KBP1_uc011mjf.2_Missense_Mutation_p.A364V|SH3KBP1_uc004czl.3_Missense_Mutation_p.A565V|SH3KBP1_uc010nfm.3_Missense_Mutation_p.A47V	p.A602V	NM_031892	NP_114098	WXS	Illumina GAIIx	Phase_I	Q96B97	SH3K1_HUMAN			15	2121	-			602					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.1805C>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024828	0.35701	0.0	1.49E-4	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.54	-6.8	0.01709	.	2.813160	0.00921	N	0.002593	T	0.24699	0.0599	L	0.36672	1.1	0.09310	N	1	B;B;B	0.33073	0.226;0.396;0.396	B;B;B	0.25614	0.041;0.038;0.062	T	0.10636	-1.0621	10	0.30078	T	0.28	3.0863	17.2325	0.86988	0.8718:0.0:0.1282:0.0	.	364;602;565	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	V	587;602;364;565;341;582	ENSP00000380921:A602V;ENSP00000369039:A364V;ENSP00000369020:A565V;ENSP00000442499:A341V;ENSP00000369049:A582V	ENSP00000369020:A565V	A	-	2	0	SH3KBP1	19470051	0.000000	0.05858	0.005000	0.12908	0.995000	0.86356	0.034000	0.13776	-1.809000	0.01232	0.529000	0.55759	GCG		0.627	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		43	75	0	0	0	1	0	43	75					A	19560130	G	A	19560130	3	1	334	1	0	0	0	0	1	0	0	0	14255	1087	38	1	204	1	SH3KBP1	23	19560130	Missense_Mutation	SNP	G	TCGA-ET-A3DS-01A-11D-A19J-08		19560130	135710430	10	5745											
GPR112	139378	broad.mit.edu	37	X	135427194	135427194	+	Silent	SNP	C	C	T			TCGA-ET-A3DS-01A-11D-A19J-08	TCGA-ET-A3DS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e02fad9d-940c-45dc-829b-39c38d2f6f76	0ed6611d-ccc7-4403-a1b0-6e56cd147e8f	g.chrX:135427194C>T	ENST00000394143.1	+	6	1620	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	GPR112_ENST00000370652.1_Silent_p.A443A|GPR112_ENST00000412101.1_Silent_p.A238A|GPR112_ENST00000394141.1_Silent_p.A238A|GPR112_ENST00000287534.4_Silent_p.A380A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	443					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)					CTACAGCTGCCGGAACTGTAC	0.478																																						uc004ezu.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.(1327-1329)gcC>gcT		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							79	72	74					X																	135427194		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427194C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1329C>T	X.37:g.135427194C>T			Somatic				GPR112_uc010nsb.1_Silent_p.A238A|GPR112_uc010nsc.1_Silent_p.A210A	p.A443A	NM_153834	NP_722576	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			5	1620	+	Acute lymphoblastic leukemia(192;0.000127)		443					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.1329C>T	CCDS35409.1																																																																																				0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			23	66	0	0	0	1	0	23	66					T	135427194	C	T	135427194	2	4	334	1	0	0	0	0	0	0	0	1	6629	639	23	1		1	GPR112	23	135427194	Silent	SNP	C	TCGA-ET-A3DS-01A-11D-A19J-08	115867064	135427194	19843366	11	5746											
GRM2	2912	broad.mit.edu	37	3	51746681	51746681	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr3:51746681G>T	ENST00000395052.3	+	3	877	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.D215Y	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	215					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCTGAGGGCGACTATGGCGA	0.602																																						uc010hlv.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(643-645)Gac>Tac		Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						109	99	102					3																	51746681		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746681G>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.643G>T	3.37:g.51746681G>T	ENSP00000378492:p.Asp215Tyr		Somatic				GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	p.D215Y	NM_000839	NP_000830	WXS	Illumina GAIIx	Phase_I	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	882	+			215					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.643G>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550242	0.86127	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.85484	-1.99;-1.99	5.04	5.04	0.67666	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95005	0.8146	10	0.87932	D	0	.	18.7614	0.91853	0.0:0.0:1.0:0.0	.	215	Q14416	GRM2_HUMAN	Y	215	ENSP00000378492:D215Y;ENSP00000408906:D215Y	ENSP00000296479:D215Y	D	+	1	0	GRM2	51721721	1.000000	0.71417	0.959000	0.39883	0.966000	0.64601	9.869000	0.99810	2.524000	0.85096	0.655000	0.94253	GAC		0.602	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			24	62	0	0	0	1	0	24	62					T	51746681	G	T	51746681	3	4	335	1	0	0	0	0	1	0	0	0	6797	1058	37	4	649	4	GRM2	3	51746681	Missense_Mutation	SNP	G	TCGA-ET-A3DT-01A-11D-A19J-08		51746681	146275749	1	5747											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	40	0	0	0	1	0	14	40					T	140453136	A	T	140453136	3	4	335	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DT-01A-11D-A19J-08		140453136	18685527	2	5748											
LSP1	4046	broad.mit.edu	37	11	1907970	1907970	+	Silent	SNP	C	C	T			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr11:1907970C>T	ENST00000311604.3	+	8	901	c.726C>T	c.(724-726)ggC>ggT	p.G242G	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Silent_p.G180G|LSP1_ENST00000381775.1_Silent_p.G370G|LSP1_ENST00000406638.2_Silent_p.G180G	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	242					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		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;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGACCGCTGGCCGGACCCCCA	0.602																																						uc001luj.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1108-1110)ggC>ggT		Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 5, mRNA.							70	76	74					11																	1907970		2202	4299	6501	SO:0001819	synonymous_variant	4046				cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity	g.chr11:1907970C>T	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.726C>T	11.37:g.1907970C>T			Somatic				LSP1_uc001lui.3_Silent_p.G242G|LSP1_uc001luk.3_Silent_p.G180G|LSP1_uc001lul.3_Silent_p.G180G|LSP1_uc001lum.3_Silent_p.G180G	p.G370G	NM_001242932	NP_001229861	WXS	Illumina GAIIx	Phase_I	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	8	1218	+		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)	242					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Silent	SNP	ENST00000311604.3	37	c.1110C>T	CCDS31334.1																																																																																				0.602	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		8	84	0	0	0	1	0	8	84					T	1907970	C	T	1907970	2	4	335	1	0	0	0	0	0	0	0	1	9063	726	26	2		2	LSP1	11	1907970	Silent	SNP	C	TCGA-ET-A3DT-01A-11D-A19J-08		1907970	133098546	3	5749											
NCOR1	9611	broad.mit.edu	37	17	15973810	15973810	+	Silent	SNP	T	T	A			TCGA-ET-A3DT-01A-11D-A19J-08	TCGA-ET-A3DT-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d4fa4b-f805-4b31-957e-defc6913a3c5	79039652-38f5-4155-8ee4-bf4312bde77d	g.chr17:15973810T>A	ENST00000268712.3	-	31	4439	c.4182A>T	c.(4180-4182)tcA>tcT	p.S1394S	NCOR1_ENST00000395857.3_5'UTR|NCOR1_ENST00000395851.1_Silent_p.S1410S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1394	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGATTGACCTGAGTTGTTGT	0.428																																						uc002gpo.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4180-4182)tcA>tcT		Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.							175	170	172					17																	15973810		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15973810T>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4182A>T	17.37:g.15973810T>A			Somatic				NCOR1_uc002gpn.3_Silent_p.S1410S|NCOR1_uc002gpp.1_Silent_p.S1301S|NCOR1_uc002gpm.3_5'Flank|NCOR1_uc010vwb.2_5'UTR|NCOR1_uc010coy.3_Silent_p.S302S|NCOR1_uc010vwc.2_Silent_p.S205S	p.S1394S	NM_006311	NP_006302	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	30	4451	-			1394			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.4182A>T	CCDS11175.1																																																																																				0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		21	62	0	0	0	1	0	21	62					A	15973810	T	A	15973810	2	1	335	1	0	0	0	0	0	0	0	1	10235	1567	55	5		5	NCOR1	17	15973810	Silent	SNP	T	TCGA-ET-A3DT-01A-11D-A19J-08		15973810	65221400	4	5750											
CACHD1	57685	broad.mit.edu	37	1	65117914	65117914	+	Silent	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:65117914G>A	ENST00000371073.2	+	10	1461	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.V436V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	487	Cache 1.				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						GTGTGGACGTGAATCTGGCTT	0.368																																						uc001dbo.1																			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.(1306-1308)gtG>gtA		Homo sapiens cache domain containing 1 (CACHD1), mRNA.							219	190	200					1																	65117914		2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65117914G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1461G>A	1.37:g.65117914G>A			Somatic				CACHD1_uc001dbp.1_Silent_p.V191V|CACHD1_uc001dbq.1_Silent_p.V191V	p.V436V	NM_020925	NP_065976	WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			9	1413	+			487			VWFA.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.1308G>A																																																																																					0.368	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		12	72	0	0	0	1	0	12	72					A	65117914	G	A	65117914	2	1	336	1	0	0	0	0	0	0	0	1	2537	1277	45	2		2	CACHD1	1	65117914	Silent	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		65117914	184132707	1	5751											
NBPF10	100132406	broad.mit.edu	37	1	145368466	145368466	+	Missense_Mutation	SNP	G	G	A	rs587649731	byFrequency	TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr1:145368466G>A	ENST00000369339.3	+	17	2051	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	NBPF10_ENST00000342960.5_Missense_Mutation_p.E3482K|NBPF10_ENST00000369338.1_Missense_Mutation_p.E598K			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	777	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					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)		GATGGAAGTGGAAGAGCGTGA	0.468																																						uc021oul.1																			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.(10444-10446)Gaa>Aaa		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145368466G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1798G>A	1.37:g.145368466G>A	ENSP00000358345:p.Glu600Lys		Somatic				NBPF10_uc010oye.2_Missense_Mutation_p.E841K|NBPF10_uc010oyi.2_Missense_Mutation_p.E410K|NBPF10_uc010oyj.2_Missense_Mutation_p.E198K|NBPF10_uc010oyl.2_Missense_Mutation_p.E198K	p.E3482K	NM_001039703	NP_001034792	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10479	+	all_hematologic(923;0.032)		3482					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10444G>A		.	.	.	.	.	.	.	.	.	.	.	2.896	-0.228533	0.06022	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.09630	2.96;2.96	0.732	-0.352	0.12598	.	.	.	.	.	T	0.02119	0.0066	L	0.33245	0.995	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45116	-0.9283	9	0.48119	T	0.1	.	3.1395	0.06451	0.3525:0.0:0.6475:0.0	.	546	Q4VC10	.	K	602;598;3482	ENSP00000358344:E598K;ENSP00000345684:E3482K	ENSP00000345684:E3482K	E	+	1	0	NBPF10	144079823	0.003000	0.15002	0.002000	0.10522	0.029000	0.11900	0.222000	0.17699	-0.136000	0.11475	0.384000	0.25694	GAA		0.468	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		30	494	0	0	0	1	0	30	494					A	145368466	G	A	145368466	3	1	336	1	0	0	0	0	1	0	0	0	10193	1175	41	2	10778	2	NBPF10	1	145368466	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	80250552	145368466	103882155	2	5752											
GIGYF2	26058	broad.mit.edu	37	2	233710457	233710457	+	Silent	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr2:233710457G>A	ENST00000409547.1	+	28	3632	c.3321G>A	c.(3319-3321)gtG>gtA	p.V1107V	GIGYF2_ENST00000409451.3_Silent_p.V1128V|GIGYF2_ENST00000373566.3_Silent_p.V1129V|GIGYF2_ENST00000409480.1_Silent_p.V1129V|GIGYF2_ENST00000373563.4_Silent_p.V1107V|GIGYF2_ENST00000409196.3_Silent_p.V1101V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1107					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)		CTGTAGGTGTGTCTAACCGGC	0.363																																						uc002vtj.4																			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.(3382-3384)gtG>gtA		Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.							94	96	95					2																	233710457		2203	4300	6503	SO:0001819	synonymous_variant	26058				cell death		protein binding	g.chr2:233710457G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	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		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3321G>A	2.37:g.233710457G>A			Somatic				GIGYF2_uc002vti.4_Silent_p.V1107V|GIGYF2_uc002vtk.4_Silent_p.V1107V|GIGYF2_uc002vth.4_Silent_p.V1101V|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Silent_p.V440V	p.V1128V	NM_001103147	NP_001096617	WXS	Illumina GAIIx	Phase_I	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)	27	3651	+		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)	1107					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	c.3384G>A	CCDS33401.1																																																																																				0.363	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		4	75	0	0	0	1	0	4	75					A	233710457	G	A	233710457	2	1	336	1	0	0	0	0	0	0	0	1	6378	1364	48	2		2	GIGYF2	2	233710457	Silent	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		233710457	9488916	3	5753											
KCNAB1	7881	broad.mit.edu	37	3	156009858	156009858	+	Intron	SNP	G	G	T	rs138625130		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr3:156009858G>T	ENST00000490337.1	+	2	339				KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Silent_p.T54T|KCNAB1_ENST00000302490.8_Silent_p.T54T|KCNAB1_ENST00000471742.1_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.T54T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGACGTTCACGCCTCAGCATC	0.567													G|||	1	0.000199681	0	0	5008	,	,		17647	0		0	False		,,,				2504	0.001					uc003fat.2																			1	Substitution - coding silent(1)	p.T54T(2)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(160-162)acG>acT		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 3, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	76	70	72		,162,	3.3	1.0	3	dbSNP_134	72	0,8600		0,0,4300	no	intron,coding-synonymous,intron	KCNAB1	NM_003471.3,NM_172159.3,NM_172160.2	,,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,,	,54/402,	156009858	1,13005	2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156009858G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129547G>T	3.37:g.156009858G>T			Somatic				KCNAB1_uc003far.2_Intron|KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc010hvt.1_Silent_p.T54T	p.T54T	NM_172159	NP_751891	WXS	Illumina GAIIx	Phase_I	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		0	1083	+			72					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.162G>T	CCDS3174.1																																																																																				0.567	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		4	81	0	0	0	1	0	4	81					T	156009858	G	T	156009858	1	4	336	0	1	0	0	0	0	0	0	0	8009	1074	38	4		4	KCNAB1	3	156009858	Intron	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		156009858	42012572	4	5754											
BOD1L	259282	broad.mit.edu	37	4	13593582	13593582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr4:13593582delG	ENST00000040738.5	-	13	8248	c.8113delC	c.(8113-8115)cagfs	p.Q2705fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2705						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCTCCCTCTGGAGTTCAGCT	0.308																																						uc003gmz.1																			0											c.(8113-8115)cagfs		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							48	48	48					4																	13593582		2199	4293	6492	SO:0001589	frameshift_variant	259282						DNA binding	g.chr4:13593582delG	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8113delC	4.37:g.13593582delG	ENSP00000040738:p.Gln2705fs		Somatic					p.Q2705fs	NM_148894	NP_683692	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			12	8230	-			2705					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	37	c.8113delC	CCDS3411.2																																																																																				0.308	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		2	4						2	4	---	---	---	---	-	13593582	G	-	13593582	7	5	336	1	0	1	0	1	0	0	0	0	1483	1357	47	0	1098	0	BOD1L	4	13593582	Frame_Shift_Del	DEL	G	TCGA-ET-A3DU-01A-11D-A19J-08		13593582	177560694	5	5755											
AIM1	202	broad.mit.edu	37	6	106992466	106992466	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr6:106992466C>T	ENST00000369066.3	+	10	4323	c.3836C>T	c.(3835-3837)cCt>cTt	p.P1279L	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.P98L	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)		TATGAGAAACCTGGATTTACC	0.398																																						uc003prh.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.(3835-3837)cCt>cTt		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							91	90	90					6																	106992466		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992466C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3836C>T	6.37:g.106992466C>T	ENSP00000358062:p.Pro1279Leu		Somatic				AIM1_uc003pri.3_Missense_Mutation_p.P83L	p.P1279L	NM_001624	NP_001615	WXS	Illumina GAIIx	Phase_I	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)	9	4748	+	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)	1279			Beta/gamma crystallin 'Greek key' 6.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3836C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980451	0.74474	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.79653	-1.29;-1.29;-1.29	5.85	4.97	0.65823	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.235453	0.51477	D	0.000083	D	0.87124	0.6099	M	0.92459	3.31	0.58432	D	0.999999	P;B	0.46512	0.879;0.062	P;B	0.51550	0.673;0.219	D	0.90337	0.4356	10	0.87932	D	0	.	16.6231	0.84935	0.0:0.8656:0.1344:0.0	.	98;1279	B4DU04;Q9Y4K1	.;AIM1_HUMAN	L	1279;98;98	ENSP00000358062:P1279L;ENSP00000391419:P98L;ENSP00000439183:P98L	ENSP00000358062:P1279L	P	+	2	0	AIM1	107099159	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.154000	0.42291	1.440000	0.47531	0.655000	0.94253	CCT		0.398	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			4	69	0	0	0	1	0	4	69					T	106992466	C	T	106992466	3	4	336	1	0	0	0	0	1	0	0	0	430	681	24	2	3874	2	AIM1	6	106992466	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		106992466	64122601	6	5756											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	52	0	0	0	1	0	19	52					T	140453136	A	T	140453136	3	4	336	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DU-01A-11D-A19J-08		140453136	18685527	7	5757											
MLL3	58508	broad.mit.edu	37	7	151878394	151878394	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878394G>C	ENST00000262189.6	-	36	6769	c.6551C>G	c.(6550-6552)tCt>tGt	p.S2184C	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2184C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2184	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)										AGTTTGTGTAGATGGTCTTGG	0.483																																						uc003wla.3										N							medulloblastoma		0		p.P2183S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(6550-6552)tCt>tGt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							121	117	118					7																	151878394		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878394G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6551C>G	7.37:g.151878394G>C	ENSP00000262189:p.Ser2184Cys		Somatic				MLL3_uc003wkz.3_Missense_Mutation_p.S1245C	p.S2184C	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	6770	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2184			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6551C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.788	0.929858	0.18131	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84589	-1.87;-1.87	5.37	4.47	0.54385	.	0.499718	0.16720	N	0.202297	D	0.82522	0.5055	L	0.53249	1.67	0.80722	D	1	P;P	0.44877	0.845;0.755	B;B	0.43331	0.237;0.416	T	0.81660	-0.0832	10	0.54805	T	0.06	.	9.1777	0.37123	0.0726:0.0:0.7804:0.1469	.	2184;1245	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	C	2184	ENSP00000262189:S2184C;ENSP00000347325:S2184C	ENSP00000262189:S2184C	S	-	2	0	MLL3	151509327	0.781000	0.28676	0.002000	0.10522	0.203000	0.24098	4.298000	0.59067	1.376000	0.46267	0.655000	0.94253	TCT		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	89	0	0	0	1	0	6	89					C	151878394	G	C	151878394	3	2	336	1	0	0	0	0	1	0	0	0	9622	942	33	4	8280	4	MLL3	7	151878394	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	11425258	151878394	7260269	8	5758			1	12		4	4	1181	G		5.366824e-11
MLL3	58508	broad.mit.edu	37	7	151878929	151878929	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151878929G>A	ENST00000262189.6	-	36	6234	c.6016C>T	c.(6016-6018)Cac>Tac	p.H2006Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H2006Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2006	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)										TTAGTAAAGTGATCACTGGTT	0.463																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(6016-6018)Cac>Tac		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							137	139	138					7																	151878929		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878929G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6016C>T	7.37:g.151878929G>A	ENSP00000262189:p.His2006Tyr		Somatic				MLL3_uc003wkz.3_Missense_Mutation_p.H1067Y	p.H2006Y	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	6235	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2006			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6016C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170867	0.21621	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.41400	1.0;1.0	5.59	3.77	0.43336	.	0.327152	0.21064	U	0.080775	T	0.24661	0.0598	N	0.24115	0.695	0.80722	D	1	P;P	0.47604	0.837;0.898	B;B	0.37550	0.129;0.253	T	0.02925	-1.1093	10	0.54805	T	0.06	.	7.2717	0.26260	0.1397:0.0:0.7223:0.1379	.	2006;1067	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	Y	2006	ENSP00000262189:H2006Y;ENSP00000347325:H2006Y	ENSP00000262189:H2006Y	H	-	1	0	MLL3	151509862	0.988000	0.35896	0.036000	0.18154	0.897000	0.52465	2.712000	0.47186	0.720000	0.32209	0.558000	0.71614	CAC		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	201	0	0	0	1	0	15	201					A	151878929	G	A	151878929	3	1	336	1	0	0	0	0	1	0	0	0	9622	1290	45	2	8815	2	MLL3	7	151878929	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	535	151878929	7259734	9	5759			1	12		4	4	1181	G		5.366824e-11
MLL3	58508	broad.mit.edu	37	7	151879081	151879081	+	Missense_Mutation	SNP	G	G	A	rs375733941		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879081G>A	ENST00000262189.6	-	36	6082	c.5864C>T	c.(5863-5865)tCt>tTt	p.S1955F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S1955F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1955	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)										TGTCGTGGAAGAAGAACATAA	0.463																																						uc003wla.3										N							medulloblastoma		0				NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(5863-5865)tCt>tTt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							154	161	159					7																	151879081		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879081G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5864C>T	7.37:g.151879081G>A	ENSP00000262189:p.Ser1955Phe		Somatic				MLL3_uc003wkz.3_Missense_Mutation_p.S1016F	p.S1955F	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	6083	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1955			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5864C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753264	0.49362	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.56941	0.43;0.43	5.41	5.41	0.78517	.	0.000000	0.43416	U	0.000561	T	0.52661	0.1748	L	0.29908	0.895	0.80722	D	1	P;D	0.55172	0.664;0.97	B;P	0.52856	0.317;0.711	T	0.56625	-0.7948	10	0.87932	D	0	.	13.4865	0.61369	0.0751:0.0:0.9249:0.0	.	1955;1016	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	F	1955	ENSP00000262189:S1955F;ENSP00000347325:S1955F	ENSP00000262189:S1955F	S	-	2	0	MLL3	151510014	1.000000	0.71417	0.953000	0.39169	0.791000	0.44710	6.768000	0.74980	2.540000	0.85666	0.563000	0.77884	TCT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			12	210	0	0	0	1	0	12	210					A	151879081	G	A	151879081	3	1	336	1	0	0	0	0	1	0	0	0	9622	942	33	2	8967	2	MLL3	7	151879081	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	152	151879081	7259582	10	5760			1	12		4	4	1181	G		5.366824e-11
MLL3	58508	broad.mit.edu	37	7	151879574	151879574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr7:151879574G>A	ENST00000262189.6	-	36	5589	c.5371C>T	c.(5371-5373)Cag>Tag	p.Q1791*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1791*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1791	Gln-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)	p.Q1791*(2)									AGAAGATGCTGAGAACCAAAT	0.468																																						uc003wla.3										N							medulloblastoma		2	Substitution - Nonsense(2)	p.Q1791*(3)	lung(2)	NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(5371-5373)Cag>Tag		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							124	125	124					7																	151879574		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879574G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5371C>T	7.37:g.151879574G>A	ENSP00000262189:p.Gln1791*		Somatic				MLL3_uc003wkz.3_Nonsense_Mutation_p.Q852*	p.Q1791*	NM_170606	NP_733751	WXS	Illumina GAIIx	Phase_I	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	35	5590	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1791			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5371C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	46	12.956122	0.99709	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.4	4.49	0.54785	.	0.000000	0.42548	D	0.000687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.7431	0.77918	0.0:0.1371:0.8629:0.0	.	.	.	.	X	1791	.	ENSP00000262189:Q1791X	Q	-	1	0	MLL3	151510507	1.000000	0.71417	0.071000	0.20095	0.994000	0.84299	6.487000	0.73633	1.213000	0.43380	0.557000	0.71058	CAG		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	177	0	0	0	1	0	15	177					A	151879574	G	A	151879574	4	1	336	1	0	0	0	0	0	1	0	0	9622	1299	45	2	9460	2	MLL3	7	151879574	Nonsense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08	493	151879574	7259089	11	5761			1	12		4	4	1181	G		5.366824e-11
TRPM3	80036	broad.mit.edu	37	9	73152080	73152080	+	Missense_Mutation	SNP	C	C	T	rs144341800		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr9:73152080C>T	ENST00000377111.2	-	25	4156	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	TRPM3_ENST00000396292.4_Missense_Mutation_p.E1177K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1154K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1177K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1164K|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1305K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1309K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1164K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1332K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1167K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1167K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1330					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.E1309K(1)|p.E1177K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGTTCCCTTCCTGGCTGTTG	0.567																																						uc004aid.3																			2	Substitution - Missense(2)	p.E1309K(1)|p.E1177K(1)	skin(2)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3913-3915)Gaa>Aaa		Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.							138	126	130					9																	73152080		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152080C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3913G>A	9.37:g.73152080C>T	ENSP00000366315:p.Glu1305Lys		Somatic				TRPM3_uc004ahu.3_Missense_Mutation_p.E1147K|TRPM3_uc004ahv.3_Missense_Mutation_p.E1107K|TRPM3_uc004ahw.3_Missense_Mutation_p.E1177K|TRPM3_uc004ahx.3_Missense_Mutation_p.E1164K|TRPM3_uc004ahy.3_Missense_Mutation_p.E1167K|TRPM3_uc004ahz.3_Missense_Mutation_p.E1154K|TRPM3_uc004aia.3_Missense_Mutation_p.E1152K|TRPM3_uc004aib.3_Missense_Mutation_p.E1142K|TRPM3_uc004aic.3_Missense_Mutation_p.E1305K	p.E1305K	NM_001007471	NP_066003	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			24	4157	-			1330					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3913G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.18|19.18	3.777421|3.777421	0.70107|0.70107	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.60548|.	0.34;0.3;0.22;0.22;0.18;0.29;0.18;0.21;0.22;0.22;0.3|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.050980|.	0.85682|.	D|.	0.000000|.	T|T	0.67183|0.67183	0.2866|0.2866	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;B;P;P;B;P|.	0.40431|.	0.57;0.274;0.619;0.439;0.633;0.716;0.383;0.717|.	B;B;B;B;B;B;B;B|.	0.43052|.	0.255;0.072;0.406;0.109;0.114;0.311;0.237;0.15|.	T|T	0.58797|0.58797	-0.7573|-0.7573	10|5	0.16420|.	T|.	0.52|.	-27.4447|-27.4447	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1305;1305;1295;1309;1167;1164;1277;1164|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|E	1305;1305;1177;1167;1164;1309;1164;1164;1177;1167;1332|1153	ENSP00000366315:E1305K;ENSP00000366314:E1305K;ENSP00000366310:E1177K;ENSP00000354066:E1167K;ENSP00000366309:E1164K;ENSP00000350140:E1309K;ENSP00000386127:E1164K;ENSP00000379581:E1164K;ENSP00000379587:E1177K;ENSP00000350791:E1167K;ENSP00000389542:E1332K|.	ENSP00000350140:E1309K|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72341900|72341900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.567	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		23	100	0	0	0	1	0	23	100					T	73152080	C	T	73152080	3	4	336	1	0	0	0	0	1	0	0	0	16584	864	30	2	1214	2	TRPM3	9	73152080	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		73152080	68061351	12	5762											
TIPIN	54962	broad.mit.edu	37	15	66633685	66633685	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr15:66633685G>A	ENST00000261881.4	-	7	570	c.485C>T	c.(484-486)gCg>gTg	p.A162V	TIPIN_ENST00000367709.4_Missense_Mutation_p.A61V	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	162					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						ATTATTCTCCGCAACTTCATC	0.363																																						uc002apr.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.(484-486)gCg>gTg		Homo sapiens TIMELESS interacting protein (TIPIN), mRNA.							57	51	53					15																	66633685		2201	4299	6500	SO:0001583	missense	54962				DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66633685G>A	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"CSM3 homolog (S. cerevisiae)"	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.485C>T	15.37:g.66633685G>A	ENSP00000261881:p.Ala162Val		Somatic				TIPIN_uc010ujn.1_Missense_Mutation_p.A61V|TIPIN_uc010ujo.1_Missense_Mutation_p.A61V	p.A162V	NM_017858	NP_060328	WXS	Illumina GAIIx	Phase_I	Q9BVW5	TIPIN_HUMAN			6	571	-			162					B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	c.485C>T	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	G	9.097	1.003110	0.19121	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.15834	2.39;2.64	5.61	-4.45	0.03546	Replication fork protection component Swi3 (1);	1.005110	0.08001	N	0.988705	T	0.07999	0.0200	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.04013	0.001	T	0.37361	-0.9709	10	0.28530	T	0.3	-0.6169	1.7613	0.02992	0.172:0.3369:0.2706:0.2204	.	162	Q9BVW5	TIPIN_HUMAN	V	61;162	ENSP00000356682:A61V;ENSP00000261881:A162V	ENSP00000261881:A162V	A	-	2	0	TIPIN	64420739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.113000	0.03296	-0.606000	0.05746	-1.310000	0.01310	GCG		0.363	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858		3	24	0	0	0	1	0	3	24					A	66633685	G	A	66633685	3	1	336	1	0	0	0	0	1	0	0	0	15922	1087	38	1	428	1	TIPIN	15	66633685	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		66633685	35897707	13	5763											
NDUFB10	4716	broad.mit.edu	37	16	2011570	2011570	+	Silent	SNP	C	C	T			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr16:2011570C>T	ENST00000268668.6	+	3	459	c.342C>T	c.(340-342)aaC>aaT	p.N114N	NDUFB10_ENST00000569148.1_Silent_p.N103N|NDUFB10_ENST00000543683.2_Silent_p.N114N|SNORA64_ENST00000384674.1_RNA|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	114					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)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AAGGACAGAACTACCAGCAGA	0.557																																						uc002cni.2																			0				lung(1)|urinary_tract(1)	2						c.(340-342)aaC>aaT		Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa (NDUFB10), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						122	125	124					16																	2011570		2199	4300	6499	SO:0001819	synonymous_variant	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011570C>T	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"Mitochondrial respiratory chain complex / Complex I"	7696	protein-coding gene	gene with protein product	"complex I PDSW subunit"	603843	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.342C>T	16.37:g.2011570C>T			Somatic				TCRBV20S1_uc021tak.1_Intron|NDUFB10_uc002cnj.2_Silent_p.N114N	p.N114N	NM_004548	NP_004539	WXS	Illumina GAIIx	Phase_I	O96000	NDUBA_HUMAN			2	451	+			114					Q96II6	Silent	SNP	ENST00000268668.6	37	c.342C>T	CCDS10451.1																																																																																				0.557	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		14	89	0	0	0	1	0	14	89					T	2011570	C	T	2011570	2	4	336	1	0	0	0	0	0	0	0	1	10279	564	20	2		2	NDUFB10	16	2011570	Silent	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		2011570	88343183	14	5764											
KIF1C	10749	broad.mit.edu	37	17	4906130	4906130	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr17:4906130C>T	ENST00000320785.5	+	8	1070	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGGCTGGACTCGGAGAAGGTG	0.632																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.2																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(712-714)tCg>tTg		Homo sapiens kinesin family member 1C (KIF1C), mRNA.							99	78	85					17																	4906130		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity	g.chr17:4906130C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.713C>T	17.37:g.4906130C>T	ENSP00000320821:p.Ser238Leu		Somatic					p.S238L	NM_006612	NP_006603	WXS	Illumina GAIIx	Phase_I	O43896	KIF1C_HUMAN			7	1070	+			238			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.713C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485385	0.63962	.	.	ENSG00000129250	ENST00000320785	T	0.75367	-0.93	5.41	5.41	0.78517	Kinesin, motor domain (4);	.	.	.	.	T	0.62146	0.2404	L	0.31294	0.92	0.53005	D	0.999965	P	0.38767	0.646	B	0.32465	0.146	T	0.62310	-0.6881	9	0.29301	T	0.29	.	17.0577	0.86539	0.0:1.0:0.0:0.0	.	238	O43896	KIF1C_HUMAN	L	238	ENSP00000320821:S238L	ENSP00000320821:S238L	S	+	2	0	KIF1C	4846854	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.674000	0.83992	2.714000	0.92807	0.561000	0.74099	TCG		0.632	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			6	56	0	0	0	1	0	6	56					T	4906130	C	T	4906130	3	4	336	1	0	0	0	0	1	0	0	0	8285	893	31	1	735	1	KIF1C	17	4906130	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		4906130	76289080	15	5765											
FCGBP	8857	broad.mit.edu	37	19	40433640	40433640	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr19:40433640G>A	ENST00000221347.6	-	2	636	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	210	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTTGACCCCGAGAGATCCAC	0.542																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(628-630)tCg>tTg		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							72	72	72					19																	40433640		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433640G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.629C>T	19.37:g.40433640G>A	ENSP00000221347:p.Ser210Leu		Somatic					p.S210L	NM_003890	NP_003881	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		1	637	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		210			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.629C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455589	0.63401	.	.	ENSG00000090920	ENST00000221347	T	0.20881	2.04	4.47	4.47	0.54385	.	0.103243	0.38663	N	0.001620	T	0.42585	0.1209	L	0.54323	1.7	0.33321	D	0.567339	D	0.89917	1.0	D	0.76071	0.987	T	0.53092	-0.8487	10	0.87932	D	0	.	17.1195	0.86698	0.0:0.0:1.0:0.0	.	210	Q9Y6R7	FCGBP_HUMAN	L	210	ENSP00000221347:S210L	ENSP00000221347:S210L	S	-	2	0	FCGBP	45125480	1.000000	0.71417	0.814000	0.32528	0.024000	0.10985	8.277000	0.89896	2.775000	0.95449	0.655000	0.94253	TCG		0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		9	75	0	0	0	1	0	9	75					A	40433640	G	A	40433640	3	1	336	1	0	0	0	0	1	0	0	0	5778	1059	37	1	15728	1	FCGBP	19	40433640	Missense_Mutation	SNP	G	TCGA-ET-A3DU-01A-11D-A19J-08		40433640	18695343	16	5766											
ZGPAT	84619	broad.mit.edu	37	20	62340073	62340073	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chr20:62340073C>G	ENST00000328969.5	+	2	268	c.141C>G	c.(139-141)atC>atG	p.I47M	RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000359715.5_5'Flank|ZGPAT_ENST00000355969.6_Missense_Mutation_p.I47M|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000448100.2_Missense_Mutation_p.I47M|ZGPAT_ENST00000357119.4_Missense_Mutation_p.I47M|ZGPAT_ENST00000369967.3_Missense_Mutation_p.I47M	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	47					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGGAGCTCATCGAGCTCACCG	0.672																																						uc002ygk.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(139-141)atC>atG		Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.							40	43	42					20																	62340073		2203	4299	6502	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340073C>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.141C>G	20.37:g.62340073C>G	ENSP00000332013:p.Ile47Met		Somatic				ARFRP1_uc002yga.3_5'Flank|ARFRP1_uc002ygf.3_5'Flank|ARFRP1_uc011abf.2_5'Flank|ARFRP1_uc002ygh.4_5'Flank|ARFRP1_uc002ygc.3_5'Flank|ARFRP1_uc011abg.2_5'Flank|ARFRP1_uc011abh.2_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.I47M|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Missense_Mutation_p.I47M|ZGPAT_uc002ygm.3_Missense_Mutation_p.I47M|ZGPAT_uc002ygj.2_Missense_Mutation_p.I47M|ZGPAT_uc002ygn.4_Non-coding_Transcript	p.I47M	NM_032527	NP_115916	WXS	Illumina GAIIx	Phase_I	Q8N5A5	ZGPAT_HUMAN			1	330	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		47					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.141C>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753731	0.69648	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.21	-0.368	0.12537	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.90425	3.115	0.44587	D	0.997559	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61118	-0.7127	10	0.87932	D	0	13.8711	5.0635	0.14570	0.1697:0.4752:0.0:0.3551	.	47;47;47	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	M	47	ENSP00000391176:I47M;ENSP00000348242:I47M;ENSP00000349634:I47M;ENSP00000403966:I47M;ENSP00000358984:I47M;ENSP00000332013:I47M	ENSP00000332013:I47M	I	+	3	3	ZGPAT	61810517	0.921000	0.31238	0.996000	0.52242	0.993000	0.82548	0.029000	0.13666	0.180000	0.19960	0.561000	0.74099	ATC		0.672	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		7	64	0	0	0	1	0	7	64					G	62340073	C	G	62340073	3	3	336	1	0	0	0	0	1	0	0	0	17671	874	31	4	143	4	ZGPAT	20	62340073	Missense_Mutation	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		62340073	685447	17	5767											
PLP1	5354	broad.mit.edu	37	X	103042822	103042822	+	Silent	SNP	C	C	T	rs184166250		TCGA-ET-A3DU-01A-11D-A19J-08	TCGA-ET-A3DU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70168ed4-c985-46b2-8c9a-c0510fef5e77	f2a70c64-a751-4ecd-9361-59710dcc20d3	g.chrX:103042822C>T	ENST00000303958.2	+	4	695	c.549C>T	c.(547-549)acC>acT	p.T183T	PLP1_ENST00000361621.2_Silent_p.T148T|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Silent_p.T183T	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	183			T -> N (in HLD1). {ECO:0000269|PubMed:10417279}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CCTGGACCACCTGCCAGTCTA	0.527																																						uc010nov.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(547-549)acC>acT		Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.							205	146	166					X																	103042822		2203	4300	6503	SO:0001819	synonymous_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103042822C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.549C>T	X.37:g.103042822C>T			Somatic				RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Silent_p.T183T|PLP1_uc004elj.3_Silent_p.T148T|PLP1_uc011msf.2_Silent_p.T128T|PLP1_uc010nox.3_Silent_p.T137T	p.T183T	NM_001128834	NP_001122306	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			4	829	+			183		T -> N (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Silent	SNP	ENST00000303958.2	37	c.549C>T	CCDS14513.1																																																																																				0.527	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			33	92	0	0	0	1	0	33	92					T	103042822	C	T	103042822	2	4	336	1	0	0	0	0	0	0	0	1	12104	668	24	2		2	PLP1	23	103042822	Silent	SNP	C	TCGA-ET-A3DU-01A-11D-A19J-08		103042822	52227738	18	5768											
TP73	7161	broad.mit.edu	37	1	3624240	3624240	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:3624240C>T	ENST00000378295.4	+	4	469	c.314C>T	c.(313-315)aCc>aTc	p.T105I	TP73_ENST00000346387.4_Missense_Mutation_p.T105I|TP73_ENST00000603362.1_Missense_Mutation_p.T105I|TP73_ENST00000378280.1_Missense_Mutation_p.T56I|TP73_ENST00000354437.4_Missense_Mutation_p.T105I|TP73_ENST00000604074.1_Missense_Mutation_p.T105I|TP73_ENST00000357733.3_Missense_Mutation_p.T105I|TP73_ENST00000604479.1_Missense_Mutation_p.T105I|TP73_ENST00000378285.1_Missense_Mutation_p.T56I|TP73_ENST00000378290.4_Missense_Mutation_p.T34I|TP73_ENST00000378288.4_Missense_Mutation_p.T56I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	105					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCCAGCTCCACCTTCGACACC	0.672																																						uc001akp.3																			0		p.S104F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(313-315)aCc>aTc		Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.							72	70	71					1																	3624240		2203	4300	6503	SO:0001583	missense	7161				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624240C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.314C>T	1.37:g.3624240C>T	ENSP00000367545:p.Thr105Ile		Somatic				TP73_uc021ofb.1_Missense_Mutation_p.T105I|TP73_uc021ofc.1_Missense_Mutation_p.T105I|TP73_uc021ofd.1_Missense_Mutation_p.T105I|TP73_uc021ofe.1_Missense_Mutation_p.T105I|TP73_uc021off.1_Missense_Mutation_p.T105I|TP73_uc010nzj.2_Missense_Mutation_p.T56I|TP73_uc021ofg.1_Missense_Mutation_p.T56I|TP73_uc021ofh.1_Missense_Mutation_p.T56I|TP73_uc021ofi.1_Missense_Mutation_p.T56I|TP73_uc001akr.3_Missense_Mutation_p.T56I|TP73_uc009vlk.2_Missense_Mutation_p.T56I|TP73_uc001aks.3_Missense_Mutation_p.T56I|TP73_uc009vll.3_Missense_Mutation_p.T34I|TP73_uc010nzk.2_Missense_Mutation_p.T34I	p.T105I	NM_005427	NP_001191121	WXS	Illumina GAIIx	Phase_I	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	3	424	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	105					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.314C>T	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016434	0.75161	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99515	-5.9;-6.05;-5.75;-5.83;-5.89;-6.06;-6.04;-5.91	4.6	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	L	0.57536	1.79	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	0.996;0.997;0.999;1.0;0.998;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.995;0.996;0.999;0.999;0.998;1.0;0.997	D	0.98883	1.0770	10	0.45353	T	0.12	-39.0669	13.1061	0.59247	0.1614:0.8386:0.0:0.0	.	56;34;56;56;56;105;105	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	I	105;105;105;105;56;56;56;34	ENSP00000367545:T105I;ENSP00000346423:T105I;ENSP00000350366:T105I;ENSP00000340740:T105I;ENSP00000367537:T56I;ENSP00000367534:T56I;ENSP00000367529:T56I;ENSP00000367539:T34I	ENSP00000340740:T105I	T	+	2	0	TP73	3614100	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.671000	0.83941	0.906000	0.36621	0.491000	0.48974	ACC		0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		36	53	0	0	0	1	0	36	53					T	3624240	C	T	3624240	3	4	337	1	0	0	0	0	1	0	0	0	16390	507	18	2	367	2	TP73	1	3624240	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		3624240	245626381	1	5769											
ZZZ3	26009	broad.mit.edu	37	1	78097775	78097775	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:78097775T>A	ENST00000370801.3	-	5	1740	c.1265A>T	c.(1264-1266)aAt>aTt	p.N422I	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	422					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTGACTTACATTATCACTAAC	0.343																																						uc001dhq.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1264-1266)aAt>aTt		Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.							95	90	91					1																	78097775		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097775T>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1265A>T	1.37:g.78097775T>A	ENSP00000359837:p.Asn422Ile		Somatic				ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.N422I|ZZZ3_uc001dhp.3_Missense_Mutation_p.N422I	p.N422I	NM_015534	NP_056349	WXS	Illumina GAIIx	Phase_I	Q8IYH5	ZZZ3_HUMAN			4	1741	-			422					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1265A>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	5.168	0.216492	0.09810	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.64	3.15	0.36227	.	0.247523	0.39909	N	0.001235	T	0.16257	0.0391	N	0.22421	0.69	0.80722	D	1	P;B;B	0.45474	0.859;0.306;0.432	B;B;B	0.37304	0.246;0.08;0.165	T	0.02288	-1.1182	8	.	.	.	.	12.4923	0.55907	0.0:0.0:0.3976:0.6024	.	422;422;422	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	I	422	.	.	N	-	2	0	ZZZ3	77870363	0.997000	0.39634	0.991000	0.47740	0.329000	0.28539	1.036000	0.30228	1.066000	0.40716	0.533000	0.62120	AAT		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		4	86	0	0	0	1	0	4	86					A	78097775	T	A	78097775	3	1	337	1	0	0	0	0	1	0	0	0	18253	1493	52	5	1490	5	ZZZ3	1	78097775	Missense_Mutation	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08	74473535	78097775	171152846	2	5770											
CR2	1380	broad.mit.edu	37	1	207643143	207643143	+	Silent	SNP	G	G	A			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:207643143G>A	ENST00000367058.3	+	6	1110	c.921G>A	c.(919-921)ccG>ccA	p.P307P	CR2_ENST00000367059.3_Silent_p.P307P|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Silent_p.P307P|CR2_ENST00000458541.2_Silent_p.P307P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	307	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTGTGACCCGGACCCAGAGG	0.488																																						uc001hfv.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(919-921)ccG>ccA		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 1, mRNA.							105	95	98					1																	207643143		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643143G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.921G>A	1.37:g.207643143G>A			Somatic				CR2_uc001hfw.3_Silent_p.P307P|CR2_uc009xch.3_Silent_p.P307P|CR2_uc009xci.1_5'Flank	p.P307P	NM_001006658	NP_001006659	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			5	1040	+			307			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.921G>A	CCDS1478.1																																																																																				0.488	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		4	98	0	0	0	1	0	4	98					A	207643143	G	A	207643143	2	1	337	1	0	0	0	0	0	0	0	1	3842	1103	39	1		1	CR2	1	207643143	Silent	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08	129545368	207643143	41607478	3	5771											
SLA	6503	broad.mit.edu	37	8	134072405	134072408	+	Start_Codon_Del	DEL	TTTC	TTTC	-			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr8:134072405_134072408delTTTC	ENST00000338087.5	-	0	817_820				SLA_ENST00000395352.3_Frame_Shift_Del_p.EM17fs|SLA_ENST00000524345.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.EM17fs|TG_ENST00000377869.1_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000427060.2_Frame_Shift_Del_p.EM40fs|TG_ENST00000519543.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor						positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CTGTTTCCCATTTCTTTCTTTTTC	0.578																																						uc011ljd.2																			0		p.P40H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(118-123)gaaatgfs		Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.																																				SO:0001582	initiator_codon_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134072405_134072408delTTTC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439		8.37:g.134072409_134072412delTTTC			Somatic				TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Start_Codon_Del|SLA_uc011lje.2_Frame_Shift_Del_p.E17fs|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Frame_Shift_Del_p.E17fs|SLA_uc010mdy.1_Start_Codon_Del|SLA_uc010mdz.1_Start_Codon_Del|SLA_uc010mea.2_Non-coding_Transcript	p.E40fs	NM_006748	NP_006739	WXS	Illumina GAIIx	Phase_I	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		0	196_199	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	0			SH3.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Frame_Shift_Del	DEL	ENST00000338087.5	37	c.118_121delGAAA	CCDS6370.1																																																																																				0.578	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			55	83						55	83	---	---	---	---	-	134072408	TTTC	-	134072405	7	5	337	1	0	1	0	1	0	0	0	0	14363	1493	52	0	857	0	SLA	8	134072405	Start_Codon_Del	DEL	TTTC	TCGA-ET-A3DV-01A-12D-A202-08		134072405	12291617	4	5772											
ZNF462	58499	broad.mit.edu	37	9	109687520	109687520	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:109687520T>C	ENST00000277225.5	+	3	1616	c.1327T>C	c.(1327-1329)Ttt>Ctt	p.F443L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F443L|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	443					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						CCAGTGCCCCTTTTGTCCTTT	0.463																																						uc004bcz.3																			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.(1327-1329)Ttt>Ctt		Homo sapiens zinc finger protein 462 (ZNF462), mRNA.							147	142	144					9																	109687520		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687520T>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1327T>C	9.37:g.109687520T>C	ENSP00000277225:p.Phe443Leu		Somatic				MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.F291L|ZNF462_uc004bda.3_Missense_Mutation_p.F291L	p.F443L	NM_021224	NP_067047	WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			2	1616	+			443					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1327T>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279775	0.59758	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05649	3.41;3.87	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.095596	0.85682	D	0.000000	T	0.06416	0.0165	N	0.19112	0.55	0.80722	D	1	P;P	0.40534	0.72;0.643	B;B	0.42188	0.261;0.379	T	0.53063	-0.8491	9	.	.	.	.	14.5926	0.68378	0.0:0.0:0.0:1.0	.	443;443	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	443	ENSP00000277225:F443L;ENSP00000414570:F443L	.	F	+	1	0	ZNF462	108727341	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.619000	0.83057	2.188000	0.69820	0.459000	0.35465	TTT		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		3	126	0	0	0	1	0	3	126					C	109687520	T	C	109687520	3	2	337	1	0	0	0	0	1	0	0	0	17923	1609	56	3	1333	3	ZNF462	9	109687520	Missense_Mutation	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		109687520	31525911	5	5773											
RABGAP1	23637	broad.mit.edu	37	9	125863904	125863904	+	Silent	SNP	A	A	G			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:125863904A>G	ENST00000373647.4	+	25	3083	c.2949A>G	c.(2947-2949)aaA>aaG	p.K983K	RABGAP1_ENST00000373643.5_Silent_p.K322K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	983					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GGCGTGTAAAAGGCATAAGCT	0.448																																						uc011lzh.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2947-2949)aaA>aaG		Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.							92	84	87					9																	125863904		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125863904A>G	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2949A>G	9.37:g.125863904A>G			Somatic				RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Silent_p.K322K	p.K983K	NM_012197	NP_036329	WXS	Illumina GAIIx	Phase_I	Q9Y3P9	RBGP1_HUMAN			24	3083	+			983					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.2949A>G	CCDS6848.2																																																																																				0.448	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		3	68	0	0	0	1	0	3	68					G	125863904	A	G	125863904	2	3	337	1	0	0	0	0	0	0	0	1	12964	69	3	3		3	RABGAP1	9	125863904	Silent	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	16176384	125863904	15349527	6	5774											
LDB3	11155	broad.mit.edu	37	10	88441198	88441198	+	Silent	SNP	C	C	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88441198C>T	ENST00000361373.4	+	4	348	c.327C>T	c.(325-327)ccC>ccT	p.P109P	LDB3_ENST00000310944.6_Silent_p.P109P|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Silent_p.P109P|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000372056.4_Silent_p.P109P|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Silent_p.P109P	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCAGGACCCCGCTCTGGACA	0.677																																						uc010qmm.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(325-327)ccC>ccT		Homo sapiens LIM domain binding 3 (LDB3), transcript variant 5, mRNA.							51	59	56					10																	88441198		2202	4297	6499	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441198C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"cypher", "oracle", "Z-band alternatively spliced PDZ motif protein"	605906	"cardiomyopathy, dilated 1C (autosomal dominant)"	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.327C>T	10.37:g.88441198C>T			Somatic				LDB3_uc010qml.1_Silent_p.P109P|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Intron|LDB3_uc001kdv.3_Silent_p.P109P|LDB3_uc001kdr.3_Intron|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.P109P|LDB3_uc001kds.3_Silent_p.P109P	p.P109P	NM_001171610	NP_001165081	WXS	Illumina GAIIx	Phase_I	O75112	LDB3_HUMAN			4	472	+			109						Silent	SNP	ENST00000361373.4	37	c.327C>T	CCDS7377.1																																																																																				0.677	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			4	183	0	0	0	1	0	4	183					T	88441198	C	T	88441198	2	4	337	1	0	0	0	0	0	0	0	1	8697	639	23	1		1	LDB3	10	88441198	Silent	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		88441198	47093549	7	5775											
FAM35A	54537	broad.mit.edu	37	10	88911225	88911225	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88911225A>T	ENST00000298784.1	+	3	228	c.114A>T	c.(112-114)aaA>aaT	p.K38N	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.K38N	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	38										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCTGGAAAAAAATTCAGCTTT	0.373																																					Ovarian(175;703 2004 25460 32514 43441)	uc001kei.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(112-114)aaA>aaT		Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.							22	24	24					10																	88911225		2187	4284	6471	SO:0001583	missense	54537							g.chr10:88911225A>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.114A>T	10.37:g.88911225A>T	ENSP00000298784:p.Lys38Asn		Somatic					p.K38N	NM_019054	NP_061927	WXS	Illumina GAIIx	Phase_I	Q86V20	FA35A_HUMAN			2	228	+			38					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.114A>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	a	13.53	2.263666	0.39995	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.24723	1.84;1.85;1.85	4.07	-0.965	0.10323	.	0.497156	0.16521	N	0.210802	T	0.29976	0.0750	L	0.50333	1.59	0.09310	N	1	D	0.61697	0.99	P	0.54174	0.744	T	0.14727	-1.0462	10	0.51188	T	0.08	-5.8079	7.699	0.28611	0.6289:0.0:0.3711:0.0	.	38	Q86V20	FA35A_HUMAN	N	38	ENSP00000298786:K38N;ENSP00000298784:K38N;ENSP00000351064:K38N	ENSP00000298784:K38N	K	+	3	2	FAM35A	88901205	0.003000	0.15002	0.010000	0.14722	0.122000	0.20287	0.174000	0.16743	-0.378000	0.07918	-0.540000	0.04249	AAA		0.373	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		21	16	0	0	0	1	0	21	16					T	88911225	A	T	88911225	3	4	337	1	0	0	0	0	1	0	0	0	5553	11	1	5	116	5	FAM35A	10	88911225	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	470027	88911225	46623522	8	5776											
PPP2R1B	5519	broad.mit.edu	37	11	111625705	111625705	+	Splice_Site	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr11:111625705T>C	ENST00000527614.1	-	7	1022	c.957A>G	c.(955-957)aaA>aaG	p.K319K	PPP2R1B_ENST00000426998.2_Splice_Site_p.K255K|PPP2R1B_ENST00000393055.2_Splice_Site_p.K192K|PPP2R1B_ENST00000311129.5_Splice_Site_p.K319K|PPP2R1B_ENST00000341980.6_Splice_Site_p.K319K|PPP2R1B_ENST00000427203.2_Splice_Site_p.K158K	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	319					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)		CTCCTTAACCTTTTACTTTGT	0.383																																						uc001plw.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.e7+1		Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.							76	78	78					11																	111625705		2201	4297	6498	SO:0001630	splice_region_variant	5519						protein binding	g.chr11:111625705T>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.958+1A>G	11.37:g.111625705T>C			Somatic				PPP2R1B_uc010rwi.1_Splice_Site_p.E256_splice|PPP2R1B_uc001plx.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwk.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwl.1_Splice_Site_p.E193_splice|PPP2R1B_uc010rwj.1_Splice_Site_p.E159_splice	p.E320_splice	NM_181699	NP_859050	WXS	Illumina GAIIx	Phase_I	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)	7	1042	-		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)	320					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Splice_Site	SNP	ENST00000527614.1	37	c.958_splice	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823141	0.50739	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	T	0.70465	0.3227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69647	-0.5089	4	.	.	.	-17.5699	14.0143	0.64515	0.0:0.0:0.0:1.0	.	.	.	.	G	20	.	.	R	-	1	2	PPP2R1B	111130915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.915000	0.69973	2.195000	0.70347	0.533000	0.62120	AGA		0.383	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	Silent	3	80	0	0	0	1	0	3	80					C	111625705	T	C	111625705	5	2	337	1	0	0	0	0	0	0	1	0	12383	1623	56	3	1107	3	PPP2R1B	11	111625705	Splice_Site	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		111625705	23380811	9	5777											
TRIM13	10206	broad.mit.edu	37	13	50586828	50586828	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:50586828A>G	ENST00000378182.3	+	2	1490	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.Q251R|TRIM13_ENST00000457662.2_Missense_Mutation_p.Q251R|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000298772.5_Missense_Mutation_p.Q254R|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000356017.4_Missense_Mutation_p.Q254R	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	251					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTCTGCAACAGATGCAGGAG	0.413																																						uc001vdp.1																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(760-762)cAg>cGg		Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.							81	81	81					13																	50586828		2203	4300	6503	SO:0001583	missense	10206				ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586828A>G	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.752A>G	13.37:g.50586828A>G	ENSP00000367424:p.Gln251Arg		Somatic				DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.Q251R|TRIM13_uc001vdr.1_Missense_Mutation_p.Q251R|TRIM13_uc001vds.1_Missense_Mutation_p.Q251R|TRIM13_uc021rjq.1_Missense_Mutation_p.Q251R	p.Q254R	NM_001007278	NP_998755	WXS	Illumina GAIIx	Phase_I	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	3	1179	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	251					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.761A>G	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962658	0.34659	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.25749	2.31;1.78;1.78;2.32;1.78;2.32	5.61	5.61	0.85477	.	0.056002	0.64402	D	0.000001	T	0.20129	0.0484	N	0.20986	0.625	0.49130	D	0.999759	P;P	0.39759	0.56;0.687	B;B	0.39503	0.092;0.301	T	0.03651	-1.1016	9	.	.	.	-4.5557	15.7868	0.78310	1.0:0.0:0.0:0.0	.	251;254	O60858;O60858-3	TRI13_HUMAN;.	R	251;251;251;254;251;254	ENSP00000367425:Q251R;ENSP00000412943:Q251R;ENSP00000367424:Q251R;ENSP00000348299:Q254R;ENSP00000399206:Q251R;ENSP00000298772:Q254R	.	Q	+	2	0	TRIM13	49484829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.848000	0.69458	2.119000	0.64992	0.533000	0.62120	CAG		0.413	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		6	127	0	0	0	1	0	6	127					G	50586828	A	G	50586828	3	3	337	1	0	0	0	0	1	0	0	0	16485	188	7	3	767	3	TRIM13	13	50586828	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08		50586828	64583050	10	5778											
MYCBP2	23077	broad.mit.edu	37	13	77740543	77740543	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:77740543A>T	ENST00000544440.2	-	41	6164	c.6147T>A	c.(6145-6147)caT>caA	p.H2049Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H2049Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H2087Q					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAGATTTTCATGAACAGATG	0.383																																						uc021rks.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(6259-6261)caT>caA		Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.							84	84	84					13																	77740543		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77740543A>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6147T>A	13.37:g.77740543A>T	ENSP00000444596:p.His2049Gln		Somatic				MYCBP2_uc010aev.3_Missense_Mutation_p.H1453Q	p.H2087Q	NM_015057	NP_055872	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	40	6528	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2049						Missense_Mutation	SNP	ENST00000544440.2	37	c.6261T>A		.	.	.	.	.	.	.	.	.	.	A	14.76	2.630698	0.46944	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27104	1.69;1.69;1.69	5.79	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.22421	0.69	0.48288	D	0.999622	P	0.50156	0.932	D	0.63703	0.917	T	0.01608	-1.1313	10	0.26408	T	0.33	.	9.8029	0.40775	0.8019:0.0:0.1981:0.0	.	2049	O75592	MYCB2_HUMAN	Q	2049;2087;2049	ENSP00000349892:H2049Q;ENSP00000384288:H2087Q;ENSP00000444596:H2049Q	ENSP00000349892:H2049Q	H	-	3	2	MYCBP2	76638544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.072000	0.30678	0.466000	0.27193	0.528000	0.53228	CAT		0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		5	72	0	0	0	1	0	5	72					T	77740543	A	T	77740543	3	4	337	1	0	0	0	0	1	0	0	0	10018	214	8	5	7947	5	MYCBP2	13	77740543	Missense_Mutation	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	27153715	77740543	37429335	11	5779											
PNN	5411	broad.mit.edu	37	14	39650419	39650419	+	Silent	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr14:39650419T>C	ENST00000216832.4	+	9	1573	c.1506T>C	c.(1504-1506)ccT>ccC	p.P502P	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	502	Gln-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CCTCTCAGCCTGAGGATTTGT	0.517																																						uc001wuw.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1504-1506)ccT>ccC		Homo sapiens pinin, desmosome associated protein (PNN), mRNA.							91	93	93					14																	39650419		2203	4300	6503	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650419T>C	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1506T>C	14.37:g.39650419T>C			Somatic					p.P502P	NM_002687	NP_002678	WXS	Illumina GAIIx	Phase_I	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	8	1603	+	Hepatocellular(127;0.213)		502			Gln-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1506T>C	CCDS9671.1																																																																																				0.517	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		3	131	0	0	0	1	0	3	131					C	39650419	T	C	39650419	2	2	337	1	0	0	0	0	0	0	0	1	12160	1567	55	3		3	PNN	14	39650419	Silent	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08		39650419	67699121	12	5780											
NOX5	79400	broad.mit.edu	37	15	69349008	69349008	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr15:69349008G>T	ENST00000388866.3	+	16	2311	c.2270G>T	c.(2269-2271)gGc>gTc	p.G757V	NOX5_ENST00000530406.2_Missense_Mutation_p.G729V|NOX5_ENST00000448182.3_Missense_Mutation_p.G711V|NOX5_ENST00000455873.3_Missense_Mutation_p.G722V|NOX5_ENST00000260364.5_Missense_Mutation_p.G739V	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	757					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAGTTCGGCTTCAGATTT	0.517																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2269-2271)gGc>gTc		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							78	75	76					15																	69349008		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	g.chr15:69349008G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2270G>T	15.37:g.69349008G>T	ENSP00000373518:p.Gly757Val		Somatic				MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.G711V|NOX5_uc002arp.2_Missense_Mutation_p.G739V|NOX5_uc010bid.2_Missense_Mutation_p.G722V|NOX5_uc010bie.2_Missense_Mutation_p.G557V|NOX5_uc002arr.2_Missense_Mutation_p.G729V|NOX5_uc010bif.2_Non-coding_Transcript	p.G757V	NM_024505	NP_078781	WXS	Illumina GAIIx	Phase_I	Q96PH1	NOX5_HUMAN			15	2311	+			757					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2270G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	7.635	0.679673	0.14907	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.73575	-0.76;-0.76;-0.76	3.0	1.96	0.26148	.	1.263890	0.05562	U	0.569407	T	0.72078	0.3416	M	0.64170	1.965	0.41562	D	0.988638	P;P;P	0.43477	0.773;0.808;0.741	B;B;B	0.41988	0.3;0.206;0.372	T	0.64305	-0.6439	10	0.62326	D	0.03	.	5.1776	0.15143	0.4452:0.0:0.5548:0.0	.	722;757;729	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	V	722;739;757;729	ENSP00000416828:G722V;ENSP00000373518:G757V;ENSP00000432440:G729V	ENSP00000373518:G757V	G	+	2	0	NOX5	67136062	0.931000	0.31567	0.104000	0.21259	0.011000	0.07611	1.381000	0.34362	0.363000	0.24346	0.505000	0.49811	GGC		0.517	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		48	36	0	0	0	1	0	48	36					T	69349008	G	T	69349008	3	4	337	1	0	0	0	0	1	0	0	0	10559	1203	42	4	2365	4	NOX5	15	69349008	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08		69349008	33182384	13	5781											
IRX6	79190	broad.mit.edu	37	16	55363139	55363139	+	Silent	SNP	C	C	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr16:55363139C>T	ENST00000290552.7	+	5	2581	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	417					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAAGTTTGCCCTGCAGGGACT	0.642																																						uc002ehy.3																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1249-1251)Ctg>Ttg		Homo sapiens iroquois homeobox 6 (IRX6), mRNA.							54	61	59					16																	55363139		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363139C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1249C>T	16.37:g.55363139C>T			Somatic				IRX6_uc002ehx.3_Silent_p.L417L	p.L417L	NM_024335	NP_077311	WXS	Illumina GAIIx	Phase_I	P78412	IRX6_HUMAN			4	1782	+			417					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.1249C>T	CCDS32449.1																																																																																				0.642	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		8	140	0	0	0	1	0	8	140					T	55363139	C	T	55363139	2	4	337	1	0	0	0	0	0	0	0	1	7848	680	24	2		2	IRX6	16	55363139	Silent	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		55363139	34991614	14	5782											
GZMM	3004	broad.mit.edu	37	19	547312	547312	+	Missense_Mutation	SNP	C	C	T	rs373840917		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:547312C>T	ENST00000264553.3	+	2	126	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	30	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CATCGGGGGCCGGGAGGTGAT	0.647																																						uc002low.1																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(88-90)Cgg>Tgg		Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.		C	TRP/ARG	0,4406		0,0,2203	53	56	55		88	1.4	0.0	19		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	GZMM	NM_005317.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	30/258	547312	1,13003	2203	4299	6502	SO:0001583	missense	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:547312C>T		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"lymphocyte met-ase 1"	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.88C>T	19.37:g.547312C>T	ENSP00000264553:p.Arg30Trp		Somatic					p.R30W	NM_005317	NP_005308	WXS	Illumina GAIIx	Phase_I	P51124	GRAM_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)	1	133	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	30			Peptidase S1.			Missense_Mutation	SNP	ENST00000264553.3	37	c.88C>T	CCDS12031.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889350	0.52014	0.0	1.16E-4	ENSG00000197540	ENST00000264553	D	0.89552	-2.53	3.64	1.39	0.22231	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.097850	0.03575	U	0.229299	D	0.91882	0.7430	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76157	-0.3062	10	0.59425	D	0.04	.	4.5409	0.12056	0.2367:0.6441:0.0:0.1192	.	30	P51124	GRAM_HUMAN	W	30	ENSP00000264553:R30W	ENSP00000264553:R30W	R	+	1	2	GZMM	498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.058000	0.14301	0.303000	0.22785	-0.410000	0.06199	CGG		0.647	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		78	84	0	0	0	1	0	78	84					T	547312	C	T	547312	3	4	337	1	0	0	0	0	1	0	0	0	6919	643	23	1	94	1	GZMM	19	547312	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		547312	58581671	15	5783											
ZBTB32	27033	broad.mit.edu	37	19	36206734	36206734	+	Splice_Site	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:36206734T>C	ENST00000392197.2	+	4	1273		c.e4+2		KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Splice_Site			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32						DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	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)			CTACCCCAGGTAAGCCCCTCG	0.617																																						uc002oay.3																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.e3+2		Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.							69	66	67					19																	36206734		2203	4300	6503	SO:0001630	splice_region_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206734T>C	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.955+2T>C	19.37:g.36206734T>C			Somatic				ZBTB32_uc002oaz.3_Intron|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	p.G319_splice	NM_014383	NP_055198	WXS	Illumina GAIIx	Phase_I	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	1165	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		319					Q8WVP2	Splice_Site	SNP	ENST00000392197.2	37	c.955_splice	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120667	0.56613	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	4.86	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6896	0.28561	0.1872:0.0:0.0:0.8128	.	.	.	.	.	-1	.	.	.	+	.	.	ZBTB32	40898574	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.583000	0.36579	0.858000	0.35431	0.533000	0.62120	.		0.617	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	Intron	3	84	0	0	0	1	0	3	84					C	36206734	T	C	36206734	5	2	337	1	0	0	0	0	0	0	1	0	17532	1652	57	3	963	3	ZBTB32	19	36206734	Splice_Site	SNP	T	TCGA-ET-A3DV-01A-12D-A202-08	35659422	36206734	22922249	16	5784											
ZNF230	7773	broad.mit.edu	37	19	44515136	44515136	+	Silent	SNP	A	A	G			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:44515136A>G	ENST00000429154.2	+	5	1173	c.945A>G	c.(943-945)aaA>aaG	p.K315K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	315					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)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGTGTGGAAAAGGCTTCACTG	0.423																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(943-945)aaA>aaG		Homo sapiens zinc finger protein 230 (ZNF230), mRNA.							143	137	139					19																	44515136		2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515136A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.945A>G	19.37:g.44515136A>G			Somatic					p.K315K	NM_006300	NP_006291	WXS	Illumina GAIIx	Phase_I	Q9UIE0	ZN230_HUMAN			4	1196	+		Prostate(69;0.0352)	315					O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.945A>G	CCDS33044.1																																																																																				0.423	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			3	206	0	0	0	1	0	3	206					G	44515136	A	G	44515136	2	3	337	1	0	0	0	0	0	0	0	1	17781	69	3	3		3	ZNF230	19	44515136	Silent	SNP	A	TCGA-ET-A3DV-01A-12D-A202-08	8308402	44515136	14613847	17	5785											
HIF3A	64344	broad.mit.edu	37	19	46815428	46815428	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:46815428G>T	ENST00000377670.4	+	7	812	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	HIF3A_ENST00000472815.1_Missense_Mutation_p.V192L|HIF3A_ENST00000339613.2_Missense_Mutation_p.V205L|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.V210L|HIF3A_ENST00000600383.1_Missense_Mutation_p.V192L|HIF3A_ENST00000244303.6_Missense_Mutation_p.V192L|HIF3A_ENST00000300862.3_Missense_Mutation_p.V259L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	261	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GATTGCAGAAGTGGCTGGCTA	0.592																																						uc002peh.3																			0		p.A260T(1)|p.G261D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(781-783)Gtg>Ttg		Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.							157	148	151					19																	46815428		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46815428G>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.781G>T	19.37:g.46815428G>T	ENSP00000366898:p.Val261Leu		Somatic				HIF3A_uc002pef.2_Missense_Mutation_p.V261L|HIF3A_uc002peg.4_Missense_Mutation_p.V261L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.V205L|HIF3A_uc002pej.2_Missense_Mutation_p.V192L|HIF3A_uc010xxy.2_Missense_Mutation_p.V192L|HIF3A_uc002pel.3_Missense_Mutation_p.V259L|HIF3A_uc010xxz.2_Missense_Mutation_p.V210L	p.V261L	NM_152795	NP_690008	WXS	Illumina GAIIx	Phase_I	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	6	812	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	261			PAS 2.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.781G>T	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.361|0.361	-0.939641|-0.939641	0.02322|0.02322	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.15603	.|2.41;2.41;2.41;2.41;2.41	4.3|4.3	4.3|4.3	0.51218|0.51218	.|PAS fold-3 (1);PAS (3);	.|0.000000	.|0.36101	.|N	.|0.002785	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.00496|0.00496	-1.435|-1.435	0.36474|0.36474	D|D	0.86741|0.86741	.|B;D;B;P;B;B;B;B	.|0.58620	.|0.024;0.983;0.114;0.515;0.139;0.139;0.276;0.012	.|B;P;B;B;B;B;B;B	.|0.62740	.|0.032;0.906;0.038;0.212;0.065;0.065;0.145;0.02	T|T	0.37150|0.37150	-0.9718|-0.9718	5|10	.|0.02654	.|T	.|1	.|.	9.8229|9.8229	0.40894|0.40894	0.0:0.0:0.7951:0.2049|0.0:0.0:0.7951:0.2049	.|.	.|210;192;259;210;205;261;261;261	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.|.;.;.;.;.;HIF3A_HUMAN;.;.	I|L	233|261;261;261;169;261;192;205;192;205;259;210	.|ENSP00000366898:V261L;ENSP00000244303:V192L;ENSP00000341877:V205L;ENSP00000300862:V259L;ENSP00000407771:V210L	.|ENSP00000244302:V261L	S|V	+|+	2|1	0|0	HIF3A|HIF3A	51507268|51507268	1.000000|1.000000	0.71417|0.71417	0.785000|0.785000	0.31869|0.31869	0.390000|0.390000	0.30446|0.30446	1.094000|1.094000	0.30951|0.30951	2.390000|2.390000	0.81377|0.81377	0.591000|0.591000	0.81541|0.81541	AGT|GTG		0.592	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			9	241	0	0	0	1	0	9	241					T	46815428	G	T	46815428	3	4	337	1	0	0	0	0	1	0	0	0	7105	1029	36	4	831	4	HIF3A	19	46815428	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08	2300292	46815428	12313555	18	5786											
ZNF341	84905	broad.mit.edu	37	20	32341114	32341114	+	Missense_Mutation	SNP	G	G	A	rs567905770		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr20:32341114G>A	ENST00000375200.1	+	5	991	c.626G>A	c.(625-627)cGt>cAt	p.R209H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R209H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	209					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						CCCCCTGGGCGTCCCAACCCT	0.697																																						uc002wzy.3																			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.(625-627)cGt>cAt		Homo sapiens zinc finger protein 341 (ZNF341), mRNA.							43	36	38					20																	32341114		2201	4298	6499	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32341114G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.626G>A	20.37:g.32341114G>A	ENSP00000364346:p.Arg209His		Somatic				ZNF341_uc002wzx.3_Missense_Mutation_p.R209H|ZNF341_uc010geq.3_Missense_Mutation_p.R119H|ZNF341_uc010ger.3_Non-coding_Transcript	p.R209H	NM_032819	NP_116208	WXS	Illumina GAIIx	Phase_I	Q9BYN7	ZN341_HUMAN			4	646	+			209					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.626G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.128755	0.77549	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09630	3.18;2.96	5.05	4.04	0.47022	.	0.521385	0.20662	N	0.088003	T	0.08492	0.0211	L	0.40543	1.245	0.32145	N	0.585069	D;D;B	0.60160	0.987;0.987;0.025	P;P;B	0.48488	0.579;0.499;0.008	T	0.08351	-1.0726	10	0.02654	T	1	-18.5689	3.7277	0.08481	0.2092:0.2281:0.5627:0.0	.	150;209;209	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	H	209	ENSP00000344308:R209H;ENSP00000364346:R209H	ENSP00000344308:R209H	R	+	2	0	ZNF341	31804775	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	2.587000	0.46128	2.377000	0.81083	0.456000	0.33151	CGT		0.697	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				13	10	0	0	0	1	0	13	10					A	32341114	G	A	32341114	3	1	337	1	0	0	0	0	1	0	0	0	17854	1145	40	1	644	1	ZNF341	20	32341114	Missense_Mutation	SNP	G	TCGA-ET-A3DV-01A-12D-A202-08		32341114	30684406	19	5787											
GABRQ	55879	broad.mit.edu	37	X	151818902	151818902	+	Missense_Mutation	SNP	C	C	T	rs376267415		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chrX:151818902C>T	ENST00000370306.2	+	7	780	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	254					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCTACATACGCCTGATACT	0.522																																						uc004ffp.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(760-762)Cgc>Tgc		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.		C	CYS/ARG	1,3834		0,1,1631,571	303	264	277		760	5.2	0.9	X		277	0,6728		0,0,2428,1872	no	missense	GABRQ	NM_018558.2	180	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	254/633	151818902	1,10562	2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	g.chrX:151818902C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.760C>T	X.37:g.151818902C>T	ENSP00000359329:p.Arg254Cys		Somatic					p.R254C	NM_018558	NP_061028	WXS	Illumina GAIIx	Phase_I	Q9UN88	GBRT_HUMAN			6	780	+	Acute lymphoblastic leukemia(192;6.56e-05)		254					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.760C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506597	0.64410	2.61E-4	0.0	ENSG00000147402	ENST00000370306	T	0.79749	-1.3	6.08	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000078	T	0.81809	0.4901	N	0.21508	0.67	0.53688	D	0.999979	D	0.89917	1.0	D	0.81914	0.995	T	0.80091	-0.1527	10	0.30854	T	0.27	.	13.1189	0.59314	0.1609:0.8391:0.0:0.0	.	254	Q9UN88	GBRT_HUMAN	C	254	ENSP00000359329:R254C	ENSP00000359329:R254C	R	+	1	0	GABRQ	151569558	0.994000	0.37717	0.929000	0.37066	0.882000	0.50991	1.425000	0.34859	1.252000	0.44001	0.600000	0.82982	CGC		0.522	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		12	487	0	0	0	1	0	12	487					T	151818902	C	T	151818902	3	4	337	1	0	0	0	0	1	0	0	0	6175	536	19	1	786	1	GABRQ	23	151818902	Missense_Mutation	SNP	C	TCGA-ET-A3DV-01A-12D-A202-08		151818902	3451658	20	5788											
ZNF644	84146	broad.mit.edu	37	1	91404819	91404819	+	Missense_Mutation	SNP	T	T	C	rs529278742		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:91404819T>C	ENST00000370440.1	-	3	2309	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.M698V			Q9H582	ZN644_HUMAN	zinc finger protein 644	698					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGATTGCACATGTTTACACCT	0.368													T|||	1	0.000199681	0	0	5008	,	,		19127	0		0	False		,,,				2504	0.001					uc001dnw.3																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2092-2094)Atg>Gtg		Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.							127	127	127					1																	91404819		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404819T>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2092A>G	1.37:g.91404819T>C	ENSP00000359469:p.Met698Val		Somatic				ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.M698V	p.M698V	NM_201269	NP_958357	WXS	Illumina GAIIx	Phase_I	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	2	2375	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	698					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.2092A>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.555980	0.00138	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00530	6.77;6.77	5.82	-0.746	0.11095	.	0.706833	0.14469	N	0.317717	T	0.00039	0.0001	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01504	-1.1338	10	0.10636	T	0.68	2.4913	5.1357	0.14934	0.2147:0.5255:0.0:0.2598	.	698	Q9H582	ZN644_HUMAN	V	698;698;270	ENSP00000359469:M698V;ENSP00000337008:M698V	ENSP00000337008:M698V	M	-	1	0	ZNF644	91177407	0.310000	0.24527	0.079000	0.20413	0.619000	0.37552	0.516000	0.22817	-0.449000	0.07117	0.528000	0.53228	ATG		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		59	58	0	0	0	1	0	59	58					C	91404819	T	C	91404819	3	2	338	1	0	0	0	0	1	0	0	0	18057	1464	51	3	1907	3	ZNF644	1	91404819	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		91404819	157845802	1	5789											
SLC26A9	115019	broad.mit.edu	37	1	205892514	205892514	+	Silent	SNP	G	G	A	rs375038065		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:205892514G>A	ENST00000367135.3	-	15	1721	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	SLC26A9_ENST00000340781.4_Silent_p.S536S|SLC26A9_ENST00000367134.2_Silent_p.S536S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	536	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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)			AGTAGAGAGGGGAGCAGTACG	0.507																																						uc001hdp.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1606-1608)tcC>tcT		Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.							151	148	149					1																	205892514		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205892514G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1608C>T	1.37:g.205892514G>A			Somatic				SLC26A9_uc001hdo.3_Silent_p.S204S|SLC26A9_uc001hdq.3_Silent_p.S536S	p.S536S	NM_134325	NP_599152	WXS	Illumina GAIIx	Phase_I	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		14	1722	-	Breast(84;0.201)		536			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1608C>T	CCDS30990.1																																																																																				0.507	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		8	91	0	0	0	1	0	8	91					A	205892514	G	A	205892514	2	1	338	1	0	0	0	0	0	0	0	1	14524	1219	43	2		2	SLC26A9	1	205892514	Silent	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08	114487695	205892514	43358107	2	5790											
ACVR2A	92	broad.mit.edu	37	2	148684674	148684674	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr2:148684674T>C	ENST00000241416.7	+	11	2009	c.1373T>C	c.(1372-1374)aTt>aCt	p.I458T	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Missense_Mutation_p.I458T|ACVR2A_ENST00000535787.1_Missense_Mutation_p.I350T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	458	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.I458T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTGAAACCATTGAAGAATGT	0.378																																						uc002twg.3																			1	Substitution - Missense(1)	p.I458T(2)	breast(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1372-1374)aTt>aCt		Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.							106	101	103					2																	148684674		2203	4299	6502	SO:0001583	missense	92				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148684674T>C		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1373T>C	2.37:g.148684674T>C	ENSP00000241416:p.Ile458Thr		Somatic				ACVR2A_uc010zbn.2_Missense_Mutation_p.I350T|ACVR2A_uc002twh.3_Missense_Mutation_p.I458T	p.I458T	NM_001616	NP_001607	WXS	Illumina GAIIx	Phase_I	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	11	1642	+			458			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1373T>C	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688428	0.68271	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.71341	-0.56;-0.56;-0.56	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.76727	2.345	0.80722	D	1	P	0.41345	0.746	P	0.51550	0.673	T	0.82466	-0.0443	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	458	P27037	AVR2A_HUMAN	T	458;350;458	ENSP00000241416:I458T;ENSP00000439988:I350T;ENSP00000384338:I458T	ENSP00000241416:I458T	I	+	2	0	ACVR2A	148401144	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	ATT		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		6	56	0	0	0	1	0	6	56					C	148684674	T	C	148684674	3	2	338	1	0	0	0	0	1	0	0	0	223	1493	52	3	1415	3	ACVR2A	2	148684674	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		148684674	94514699	3	5791											
ARMC8	25852	broad.mit.edu	37	3	137991824	137991824	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:137991824G>A	ENST00000469044.1	+	17	1766	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	ARMC8_ENST00000538260.1_Missense_Mutation_p.A468T|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.A426T|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.A489T|ARMC8_ENST00000481646.1_Missense_Mutation_p.A485T|ARMC8_ENST00000491704.1_Missense_Mutation_p.A457T|ARMC8_ENST00000461822.1_Missense_Mutation_p.A432T	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	499										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GGCATTTCAGGCTGAACAAAA	0.289																																						uc003esa.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1453-1455)Gct>Act		Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.							60	55	57					3																	137991824		1808	4066	5874	SO:0001583	missense	25852						binding	g.chr3:137991824G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1495G>A	3.37:g.137991824G>A	ENSP00000419413:p.Ala499Thr		Somatic				NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.A468T|ARMC8_uc011bmg.1_Missense_Mutation_p.A432T|ARMC8_uc011bmh.1_Missense_Mutation_p.A426T|ARMC8_uc003esb.1_Missense_Mutation_p.A457T|ARMC8_uc003esc.1_Missense_Mutation_p.A257T|ARMC8_uc003esf.1_Missense_Mutation_p.A68T	p.A485T	NM_015396	NP_056211	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			17	1820	+			499					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1453G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469692	0.84533	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;1.28;1.28;1.28;-0.13	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.68317	2.08	0.80722	D	1	D;B;P;D;D	0.63880	0.962;0.067;0.898;0.993;0.978	B;B;P;D;P	0.68192	0.412;0.023;0.633;0.956;0.616	T	0.76767	-0.2838	10	0.46703	T	0.11	-33.5346	16.6367	0.85060	0.0:0.0:1.0:0.0	.	426;432;468;499;485	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	T	485;499;457;432;426;468;489;356	ENSP00000420333:A485T;ENSP00000419413:A499T;ENSP00000417304:A457T;ENSP00000420706:A432T;ENSP00000417049:A426T;ENSP00000441592:A468T;ENSP00000376778:A489T	ENSP00000376778:A489T	A	+	1	0	ARMC8	139474514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.624000	0.98398	2.509000	0.84616	0.650000	0.86243	GCT		0.289	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		7	14	0	0	0	1	0	7	14					A	137991824	G	A	137991824	3	1	338	1	0	0	0	0	1	0	0	0	957	1203	42	2	1585	2	ARMC8	3	137991824	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		137991824	60030606	4	5792											
TSC22D2	9819	broad.mit.edu	37	3	150127909	150127909	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:150127909A>G	ENST00000361875.3	+	1	1788	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	TSC22D2_ENST00000361136.2_Missense_Mutation_p.M258V	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	258					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCGGAGAAAATGAGCCAGCC	0.667																																						uc003exv.3																			0				cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(772-774)Atg>Gtg		Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.							15	18	17					3																	150127909		2194	4282	6476	SO:0001583	missense	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150127909A>G	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.772A>G	3.37:g.150127909A>G	ENSP00000354543:p.Met258Val		Somatic				TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.M258V	p.M258V	NM_014779	NP_055594	WXS	Illumina GAIIx	Phase_I	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		0	1122	+			258					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	c.772A>G	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469351	0.26423	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.27890	1.66;1.64	4.02	1.39	0.22231	.	0.083364	0.47093	D	0.000259	T	0.15262	0.0368	L	0.29908	0.895	0.24224	N	0.995425	B;B	0.25441	0.126;0.028	B;B	0.19148	0.024;0.011	T	0.18241	-1.0343	10	0.10111	T	0.7	.	6.2457	0.20815	0.742:0.1619:0.0961:0.0	.	258;258	O75157-2;O75157	.;T22D2_HUMAN	V	258	ENSP00000354543:M258V;ENSP00000354893:M258V	ENSP00000354893:M258V	M	+	1	0	TSC22D2	151610599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	1.472000	0.48140	0.528000	0.53228	ATG		0.667	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		17	27	0	0	0	1	0	17	27					G	150127909	A	G	150127909	3	3	338	1	0	0	0	0	1	0	0	0	16605	101	4	3	774	3	TSC22D2	3	150127909	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08	12136085	150127909	47894521	5	5793											
GALNT7	51809	broad.mit.edu	37	4	174238797	174238797	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr4:174238797G>A	ENST00000265000.4	+	10	1704	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	541	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E541K(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAGAGGCTTCGAAACTGCTTA	0.393																																						uc003isz.4																			1	Substitution - Missense(1)	p.E541K(2)	large_intestine(1)	central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1621-1623)Gaa>Aaa		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.							124	121	122					4																	174238797		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174238797G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1621G>A	4.37:g.174238797G>A	ENSP00000265000:p.Glu541Lys		Somatic				GALNT7_uc011ckb.2_Missense_Mutation_p.E318K	p.E541K	NM_017423	NP_059119	WXS	Illumina GAIIx	Phase_I	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1704	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	541			Ricin B-type lectin.		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1621G>A	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745155|2.745155	0.49151|0.49151	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|.	0.26223|.	1.75|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Ricin B-related lectin (1);Ricin B lectin (2);|.	0.349077|.	0.35525|.	N|.	0.003151|.	T|T	0.77384|0.77384	0.4122|0.4122	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	B|.	0.31655|.	0.334|.	B|.	0.18561|.	0.022|.	T|T	0.78250|0.78250	-0.2277|-0.2277	10|5	0.44086|.	T|.	0.13|.	.|.	18.6221|18.6221	0.91324|0.91324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	541|.	Q86SF2|.	GALT7_HUMAN|.	K|Q	541|111	ENSP00000265000:E541K|.	ENSP00000265000:E541K|.	E|R	+|+	1|2	0|0	GALNT7|GALNT7	174475372|174475372	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.756000|0.756000	0.42949|0.42949	9.781000|9.781000	0.99029|0.99029	2.566000|2.566000	0.86566|0.86566	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		6	87	0	0	0	1	0	6	87					A	174238797	G	A	174238797	3	1	338	1	0	0	0	0	1	0	0	0	6218	1059	37	1	1659	1	GALNT7	4	174238797	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		174238797	16915479	6	5794											
BMPER	168667	broad.mit.edu	37	7	33976989	33976989	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:33976989A>T	ENST00000297161.2	+	4	682	c.308A>T	c.(307-309)gAa>gTa	p.E103V	BMPER_ENST00000426693.1_Missense_Mutation_p.E103V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	103	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCCTGTTGTGAACAGTGCAAA	0.488																																						uc011kap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(307-309)gAa>gTa		Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.							118	106	110					7																	33976989		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:33976989A>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.308A>T	7.37:g.33976989A>T	ENSP00000297161:p.Glu103Val		Somatic					p.E103V	NM_133468	NP_597725	WXS	Illumina GAIIx	Phase_I	Q8N8U9	BMPER_HUMAN			3	682	+			103			VWFC 1.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.308A>T	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587034	0.66105	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.66280	-0.2;-0.2	5.18	5.18	0.71444	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.74087	-0.3778	10	0.52906	T	0.07	.	15.0184	0.71605	1.0:0.0:0.0:0.0	.	103	Q8N8U9	BMPER_HUMAN	V	103	ENSP00000297161:E103V;ENSP00000393950:E103V	ENSP00000297161:E103V	E	+	2	0	BMPER	33943514	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	7.646000	0.83445	1.937000	0.56155	0.460000	0.39030	GAA		0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		31	33	0	0	0	1	0	31	33					T	33976989	A	T	33976989	3	4	338	1	0	0	0	0	1	0	0	0	1468	246	9	5	318	5	BMPER	7	33976989	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		33976989	125161674	7	5795											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	48	0	0	0	1	0	37	48					T	140453136	A	T	140453136	3	4	338	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08	106476147	140453136	18685527	8	5796											
C10orf90	118611	broad.mit.edu	37	10	128193581	128193581	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr10:128193581G>A	ENST00000284694.7	-	3	308	c.188C>T	c.(187-189)tCa>tTa	p.S63L	C10orf90_ENST00000392694.1_Missense_Mutation_p.S16L|C10orf90_ENST00000454341.1_Missense_Mutation_p.S63L|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.S160L|C10orf90_ENST00000356858.3_Missense_Mutation_p.S16L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	63					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GTTTTCTCTTGACTTATTCTC	0.463																																						uc010qum.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(478-480)tCa>tTa		Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.							126	114	118					10																	128193581		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193581G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.188C>T	10.37:g.128193581G>A	ENSP00000284694:p.Ser63Leu		Somatic				C10orf90_uc001ljp.3_Missense_Mutation_p.S16L|C10orf90_uc001ljq.3_Missense_Mutation_p.S63L|C10orf90_uc009yao.2_Missense_Mutation_p.S160L|C10orf90_uc001ljs.1_Missense_Mutation_p.S16L	p.S160L	NM_001004298	NP_001004298	WXS	Illumina GAIIx	Phase_I	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	509	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	63					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.479C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	5.183	0.219261	0.09863	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.22945	2.24;2.24;2.23;2.24;1.93	4.76	2.76	0.32466	.	0.982655	0.08290	N	0.968530	T	0.23210	0.0561	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.0;0.0;0.001;0.001	B;B;B;B;B	0.13407	0.009;0.003;0.003;0.004;0.003	T	0.19451	-1.0305	10	0.31617	T	0.26	-1.7623	9.9758	0.41783	0.2368:0.0:0.7632:0.0	.	160;160;16;63;63	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	L	16;63;63;160;63;16;16	ENSP00000284694:S63L;ENSP00000398786:S63L;ENSP00000444369:S160L;ENSP00000405995:S63L;ENSP00000376459:S16L	ENSP00000284694:S63L	S	-	2	0	C10orf90	128183571	0.040000	0.19996	0.001000	0.08648	0.001000	0.01503	2.470000	0.45119	1.246000	0.43901	-0.219000	0.12488	TCA		0.463	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		29	43	0	0	0	1	0	29	43					A	128193581	G	A	128193581	3	1	338	1	0	0	0	0	1	0	0	0	1623	1294	45	2	1939	2	C10orf90	10	128193581	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		128193581	7341166	9	5797											
PHF21A	51317	broad.mit.edu	37	11	45958119	45958119	+	Splice_Site	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:45958119A>G	ENST00000418153.2	-	16	1806	c.1607T>C	c.(1606-1608)aTg>aCg	p.M536T	PHF21A_ENST00000323180.6_Splice_Site_p.M490T|PHF21A_ENST00000257821.4_Splice_Site_p.M537T|PHF21A_ENST00000527753.1_5'Flank			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	536	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCTTCAGCATCTGAAAAGA	0.388																																						uc001ncc.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.e16-1		Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.							114	110	111					11																	45958119		2202	4299	6501	SO:0001630	splice_region_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45958119A>G	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1606-1T>C	11.37:g.45958119A>G			Somatic				PHF21A_uc001ncb.4_Splice_Site_p.M490_splice|PHF21A_uc009ykx.3_Splice_Site_p.M490_splice|PHF21A_uc001nca.1_Splice_Site_p.M272_splice	p.M536_splice	NM_001101802	NP_001095272	WXS	Illumina GAIIx	Phase_I	Q96BD5	PF21A_HUMAN			16	2230	-			536			Required for transcriptional repression.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Splice_Site	SNP	ENST00000418153.2	37	c.1606_splice	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780170	0.49891	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000532028	T;T;T	0.22134	1.97;1.97;1.97	5.74	5.74	0.90152	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.035961	0.85682	D	0.000000	T	0.24812	0.0602	N	0.13043	0.29	0.80722	D	1	B;D;P	0.53312	0.022;0.959;0.918	B;P;P	0.61132	0.025;0.501;0.884	T	0.07966	-1.0745	10	0.11794	T	0.64	-9.209	16.0469	0.80725	1.0:0.0:0.0:0.0	.	536;490;537	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	T	537;490;536;11	ENSP00000257821:M537T;ENSP00000323152:M490T;ENSP00000398824:M536T	ENSP00000257821:M537T	M	-	2	0	PHF21A	45914695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.923000	0.92808	2.194000	0.70268	0.460000	0.39030	ATG		0.388	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	Missense_Mutation	27	44	0	0	0	1	0	27	44					G	45958119	A	G	45958119	5	3	338	1	0	0	0	0	0	0	1	0	11833	231	8	3	447	3	PHF21A	11	45958119	Splice_Site	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		45958119	89048397	10	5798											
OR5F1	338674	broad.mit.edu	37	11	55761604	55761604	+	Silent	SNP	C	C	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:55761604C>T	ENST00000278409.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	166					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(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CACAGAATGACAAGCTGCTGA	0.473																																						uc010riv.2																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(496-498)ttG>ttA		Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.							80	75	77					11																	55761604		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761604C>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.498G>A	11.37:g.55761604C>T			Somatic					p.L166L	NM_003697	NP_003688	WXS	Illumina GAIIx	Phase_I	O95221	OR5F1_HUMAN			0	498	-	Esophageal squamous(21;0.00448)		166					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.498G>A	CCDS31515.1																																																																																				0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		7	55	0	0	0	1	0	7	55					T	55761604	C	T	55761604	2	4	338	1	0	0	0	0	0	0	0	1	11158	477	17	2		2	OR5F1	11	55761604	Silent	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08	9803485	55761604	79244912	11	5799											
NKX2-1	7080	broad.mit.edu	37	14	36987112	36987112	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr14:36987112T>C	ENST00000518149.1	-	3	1092	c.487A>G	c.(487-489)Aag>Gag	p.K163E	NKX2-1_ENST00000498187.2_Missense_Mutation_p.K163E|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K193E|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K163E|NKX2-1-AS1_ENST00000521292.2_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	163					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|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)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ACCCGGCGCTTCCTGCGCGGC	0.701			A		NSCLC																																	uc001wtu.3				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(577-579)Aag>Gag		Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.							18	21	20					14																	36987112		2201	4297	6498	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987112T>C		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.487A>G	14.37:g.36987112T>C	ENSP00000428341:p.Lys163Glu		Somatic				SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K163E|NKX2-1_uc001wtv.3_Missense_Mutation_p.K163E|BX161496_uc001wtw.1_5'Flank	p.K193E	NM_001079668	NP_001073136	WXS	Illumina GAIIx	Phase_I	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	673	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		163					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.577A>G	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713367	0.68730	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	4.39	4.39	0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92880	3.355	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77004	0.981;0.989	D	0.99414	1.0931	10	0.87932	D	0	.	13.5919	0.61966	0.0:0.0:0.0:1.0	.	193;163	P43699-3;P43699	.;NKX21_HUMAN	E	193;163;163;163	ENSP00000346879:K193E;ENSP00000429607:K163E;ENSP00000428341:K163E;ENSP00000429519:K163E	ENSP00000346879:K193E	K	-	1	0	NKX2-1	36056863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.836000	0.86788	1.630000	0.50440	0.454000	0.30748	AAG		0.701	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		9	7	0	0	0	1	0	9	7					C	36987112	T	C	36987112	3	2	338	1	0	0	0	0	1	0	0	0	10449	1792	62	3	632	3	NKX2-1	14	36987112	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08		36987112	70362428	12	5800											
MYLPF	1731	broad.mit.edu	37	16	30388975	30388975	+	IGR	SNP	C	C	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:30388975C>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Splice_Site_p.F119F			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTCTCTCCAGCCTGGAGGAGC	0.662																																						uc002dxv.1																			0				large_intestine(2)|lung(4)	6						c.e6-1		Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.							57	46	50					16																	30388975		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30388975C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30388975C>T			Somatic				ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	p.F119_splice	NM_013292	NP_037424	WXS	Illumina GAIIx	Phase_I	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		6	413	+			119			EF-hand 2.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Splice_Site	SNP	ENST00000571393.1	37	c.357_splice																																																																																					0.662	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		3	6	0	0	0	1	0	3	6					T	30388975	C	T	30388975	1	4	338	0	1	0	0	0	0	0	0	0	10060	753	26	2		2	MYLPF	16	30388975	IGR	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08		30388975	59965778	13	5801											
ZFHX3	463	broad.mit.edu	37	16	72821228	72821228	+	Silent	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:72821228T>C	ENST00000268489.5	-	10	11619	c.10947A>G	c.(10945-10947)tcA>tcG	p.S3649S	ZFHX3_ENST00000397992.5_Silent_p.S2735S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3649					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)				GCTGAACCCCTGAGGTGCTGC	0.602																																						uc002fck.3																			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.(10945-10947)tcA>tcG		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							76	74	75					16																	72821228		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.chr16:72821228T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10947A>G	16.37:g.72821228T>C			Somatic				AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.S2735S	p.S3649S	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	11620	-		Ovarian(137;0.13)	3649					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10947A>G	CCDS10908.1																																																																																				0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		43	60	0	0	0	1	0	43	60					C	72821228	T	C	72821228	2	2	338	1	0	0	0	0	0	0	0	1	17631	1567	55	3		3	ZFHX3	16	72821228	Silent	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08	42432253	72821228	17533525	14	5802											
SMCHD1	23347	broad.mit.edu	37	18	2697862	2697862	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:2697862A>G	ENST00000320876.6	+	10	1503	c.1165A>G	c.(1165-1167)Att>Gtt	p.I389V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I389V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	389					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGTACCTAAGATTGTCAACCT	0.328																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1165-1167)Att>Gtt		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							149	132	138					18																	2697862		1857	4101	5958	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2697862A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1165A>G	18.37:g.2697862A>G	ENSP00000326603:p.Ile389Val		Somatic				SMCHD1_uc002klk.4_5'Flank	p.I389V	NM_015295	NP_056110	WXS	Illumina GAIIx	Phase_I	A6NHR9	SMHD1_HUMAN			9	1354	+			389					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1165A>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016403	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22945	1.93;1.93	5.06	2.66	0.31614	.	.	.	.	.	T	0.18882	0.0453	L	0.29908	0.895	0.25419	N	0.988284	B	0.02656	0.0	B	0.06405	0.002	T	0.18903	-1.0322	9	0.49607	T	0.09	.	9.3981	0.38415	0.8532:0.0:0.1468:0.0	.	389	A6NHR9	SMHD1_HUMAN	V	389	ENSP00000326603:I389V;ENSP00000261598:I389V	ENSP00000261598:I389V	I	+	1	0	SMCHD1	2687862	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.548000	0.53670	0.351000	0.24027	-0.441000	0.05720	ATT		0.328	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			5	57	0	0	0	1	0	5	57					G	2697862	A	G	2697862	3	3	338	1	0	0	0	0	1	0	0	0	14788	333	12	3	1203	3	SMCHD1	18	2697862	Missense_Mutation	SNP	A	TCGA-ET-A3DW-01A-11D-A19J-08		2697862	75379386	15	5803											
KDSR	2531	broad.mit.edu	37	18	61018297	61018297	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:61018297T>A	ENST00000406396.3	-	6	824	c.433A>T	c.(433-435)Aat>Tat	p.N145Y	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	145					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CCCAGGTAATTGATGCTCATT	0.542																																						uc010dpw.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(433-435)Aat>Tat		Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.							61	62	61					18																	61018297		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018297T>A		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	4021	protein-coding gene	gene with protein product	"3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1"	136440	"follicular lymphoma variant translocation 1"	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.433A>T	18.37:g.61018297T>A	ENSP00000385083:p.Asn145Tyr		Somatic				KDSR_uc010xem.2_Intron	p.N145Y	NM_002035	NP_002026	WXS	Illumina GAIIx	Phase_I	Q06136	KDSR_HUMAN			5	588	-			145					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.433A>T	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950974	0.92660	.	.	ENSG00000119537	ENST00000406396	D	0.94650	-3.48	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	145	Q06136	KDSR_HUMAN	Y	145	ENSP00000385083:N145Y	ENSP00000385083:N145Y	N	-	1	0	KDSR	59169277	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAT		0.542	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			42	49	0	0	0	1	0	42	49					A	61018297	T	A	61018297	3	1	338	1	0	0	0	0	1	0	0	0	8140	1812	63	5	585	5	KDSR	18	61018297	Missense_Mutation	SNP	T	TCGA-ET-A3DW-01A-11D-A19J-08	58320435	61018297	17058951	16	5804											
ZNF101	94039	broad.mit.edu	37	19	19790171	19790171	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:19790171G>T	ENST00000592502.1	+	4	483	c.373G>T	c.(373-375)Gct>Tct	p.A125S	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.A5S			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	125					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)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAGAGCTCATGCTGGACACAA	0.507																																						uc002nni.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(373-375)Gct>Tct		Homo sapiens zinc finger protein 101 (ZNF101), mRNA.							106	86	93					19																	19790171		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790171G>T	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.373G>T	19.37:g.19790171G>T	ENSP00000468049:p.Ala125Ser		Somatic				ZNF101_uc010ecg.2_Missense_Mutation_p.A5S|ZNF101_uc002nnj.2_Missense_Mutation_p.A5S	p.A125S	NM_033204	NP_149981	WXS	Illumina GAIIx	Phase_I	Q8IZC7	ZN101_HUMAN			3	483	+			125					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.373G>T	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537431	0.13188	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14144	2.53;3.32	0.235	0.235	0.15431	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.21967	N	0.999446	B	0.16603	0.018	B	0.09377	0.004	T	0.36648	-0.9739	9	0.40728	T	0.16	.	2.6964	0.05136	0.4386:0.0:0.5614:0.0	.	125	Q8IZC7	ZN101_HUMAN	S	125;125;5	ENSP00000319716:A125S;ENSP00000400952:A5S	ENSP00000319716:A125S	A	+	1	0	ZNF101	19651171	0.047000	0.20315	0.054000	0.19295	0.056000	0.15407	0.223000	0.17719	0.308000	0.22923	0.313000	0.20887	GCT		0.507	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		26	35	0	0	0	1	0	26	35					T	19790171	G	T	19790171	3	4	338	1	0	0	0	0	1	0	0	0	17711	1319	46	4	387	4	ZNF101	19	19790171	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		19790171	39338812	17	5805											
ZFP36	7538	broad.mit.edu	37	19	39898789	39898789	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:39898789C>G	ENST00000248673.3	+	2	489	c.431C>G	c.(430-432)aCg>aGg	p.T144R	ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.T150R	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	144					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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 tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAATACAAGACGGAACTCTGT	0.647																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(430-432)aCg>aGg		Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.							68	73	71					19																	39898789		2203	4299	6502	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898789C>G	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.431C>G	19.37:g.39898789C>G	ENSP00000248673:p.Thr144Arg		Somatic					p.T144R	NM_003407	NP_003398	WXS	Illumina GAIIx	Phase_I	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	489	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		144					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.431C>G		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939595	0.73557	.	.	ENSG00000128016	ENST00000248673	T	0.51574	0.7	4.07	3.03	0.35002	Zinc finger, CCCH-type (3);	0.060104	0.64402	D	0.000004	T	0.69450	0.3112	M	0.91090	3.175	0.51482	D	0.999927	D	0.64830	0.994	D	0.64237	0.923	T	0.74041	-0.3792	10	0.87932	D	0	-1.1703	9.5022	0.39024	0.0:0.8931:0.0:0.1069	.	144	P26651	TTP_HUMAN	R	144	ENSP00000248673:T144R	ENSP00000248673:T144R	T	+	2	0	ZFP36	44590629	1.000000	0.71417	0.915000	0.36163	0.981000	0.71138	7.571000	0.82399	0.949000	0.37715	0.442000	0.29010	ACG		0.647	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				42	70	0	0	0	1	0	42	70					G	39898789	C	G	39898789	3	3	338	1	0	0	0	0	1	0	0	0	17642	536	19	4	437	4	ZFP36	19	39898789	Missense_Mutation	SNP	C	TCGA-ET-A3DW-01A-11D-A19J-08	20108618	39898789	19230194	18	5806											
SEZ6L	23544	broad.mit.edu	37	22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr22:26747060G>A	ENST00000248933.6	+	12	2545	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_ENST00000529632.2_Missense_Mutation_p.R817H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	817	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547																																						uc003acb.3																			0		p.R817C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2449-2451)cGc>cAc		Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.							117	102	107					22																	26747060		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26747060G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2450G>A	22.37:g.26747060G>A	ENSP00000248933:p.Arg817His		Somatic				SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Missense_Mutation_p.R817H|SEZ6L_uc003ace.3_Missense_Mutation_p.R817H|SEZ6L_uc011akc.2_Missense_Mutation_p.R817H|SEZ6L_uc003acc.3_Missense_Mutation_p.R817H|SEZ6L_uc003acf.1_Missense_Mutation_p.R590H|SEZ6L_uc010gvc.1_Missense_Mutation_p.R590H|SEZ6L_uc011ake.2_Non-coding_Transcript	p.R817H	NM_021115	NP_066938	WXS	Illumina GAIIx	Phase_I	Q9BYH1	SE6L1_HUMAN			11	2646	+			817			Sushi 4.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2450G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.913610	0.92178	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000035	T	0.76183	0.3952	M	0.72118	2.19	0.54753	D	0.99998	D;D;D;D;D;D	0.59357	0.961;0.985;0.977;0.978;0.968;0.985	P;P;P;P;P;P	0.62298	0.757;0.9;0.833;0.79;0.828;0.9	T	0.79548	-0.1758	10	0.66056	D	0.02	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	817;817;590;817;817;817	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	817;817;817;817;590;590;14	ENSP00000384772:R817H;ENSP00000437037:R817H;ENSP00000248933:R817H;ENSP00000342661:R817H;ENSP00000384838:R590H;ENSP00000384733:R590H;ENSP00000397274:R14H	ENSP00000248933:R817H	R	+	2	0	SEZ6L	25077060	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	8.815000	0.91973	2.381000	0.81170	0.539000	0.68188	CGC		0.547	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			28	46	0	0	0	1	0	28	46					A	26747060	G	A	26747060	3	1	338	1	0	0	0	0	1	0	0	0	14143	1087	38	1	2496	1	SEZ6L	22	26747060	Missense_Mutation	SNP	G	TCGA-ET-A3DW-01A-11D-A19J-08		26747060	24557506	19	5807											
LEMD1	93273	broad.mit.edu	37	1	205350961	205350961	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr1:205350961G>A	ENST00000367153.4	-	6	473	c.371C>T	c.(370-372)aCc>aTc	p.T124I	LEMD1_ENST00000367152.1_Missense_Mutation_p.T83I|LEMD1_ENST00000367149.3_Missense_Mutation_p.P36S|LEMD1_ENST00000367151.2_Missense_Mutation_p.T83I|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000391936.2_Missense_Mutation_p.P77S|LEMD1_ENST00000367154.1_Missense_Mutation_p.P77S	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	124						integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TGTGATTCTGGTGCTTGGTGC	0.512																																						uc001hcj.2																			0				breast(1)|lung(2)	3						c.(370-372)aCc>aTc		Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.							221	193	203					1																	205350961		2203	4300	6503	SO:0001583	missense	93273					integral to membrane|nuclear envelope		g.chr1:205350961G>A		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"cancer/testis antigen 50"	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.371C>T	1.37:g.205350961G>A	ENSP00000356121:p.Thr124Ile		Somatic				LEMD1_uc001hcl.2_Missense_Mutation_p.T83I|LEMD1_uc001hci.2_Missense_Mutation_p.P77S|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.P36S|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron	p.T124I	NM_001199050	NP_001185979	WXS	Illumina GAIIx	Phase_I	Q68G75	LEMD1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0938)		5	506	-	Breast(84;0.247)		124					Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	Missense_Mutation	SNP	ENST00000367153.4	37	c.371C>T	CCDS55679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.735113|1.735113	0.30774|0.30774	.|.	.|.	ENSG00000186007|ENSG00000186007	ENST00000367154;ENST00000391936;ENST00000367149|ENST00000367152;ENST00000367153;ENST00000367151	T;T;T|T;T;T	0.58358|0.45668	0.95;0.95;0.34|0.89;0.89;0.89	4.31|4.31	-1.56|-1.56	0.08532|0.08532	.|.	.|1.535450	.|0.03609	.|N	.|0.234517	T|T	0.28928|0.28928	0.0718|0.0718	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B	0.26483|0.16396	0.15|0.017;0.002	B|B;B	0.23852|0.10450	0.049|0.005;0.002	T|T	0.20338|0.20338	-1.0278|-1.0278	8|9	0.87932|0.46703	D|T	0|0.11	-22.5303|-22.5303	4.7233|4.7233	0.12929|0.12929	0.4016:0.1537:0.4447:0.0|0.4016:0.1537:0.4447:0.0	.|.	77|83;124	Q68G75-5|Q68G75-3;Q68G75	.|.;LEMD1_HUMAN	S|I	77;77;36|83;124;83	ENSP00000356122:P77S;ENSP00000375801:P77S;ENSP00000356117:P36S|ENSP00000356120:T83I;ENSP00000356121:T124I;ENSP00000356119:T83I	ENSP00000356117:P36S|ENSP00000356119:T83I	P|T	-|-	1|2	0|0	LEMD1|LEMD1	203617584|203617584	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-0.071000|-0.071000	0.11505|0.11505	-0.383000|-0.383000	0.07858|0.07858	-0.163000|-0.163000	0.13421|0.13421	CCA|ACC		0.512	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090401.1	NM_001001552		54	108	0	0	0	1	0	54	108					A	205350961	G	A	205350961	3	1	339	1	0	0	0	0	1	0	0	0	8719	1261	44	2	101	2	LEMD1	1	205350961	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		205350961	43899660	1	5808											
TRAK1	22906	broad.mit.edu	37	3	42167045	42167045	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr3:42167045T>G	ENST00000327628.5	+	2	625	c.225T>G	c.(223-225)atT>atG	p.I75M	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	75	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACCTCTCATTTCTCCAGATG	0.463																																					GBM(44;195 884 22595 31865 41850)	uc003cky.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(223-225)atT>atG		Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.							148	139	142					3																	42167045		1962	4151	6113	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167045T>G		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.225T>G	3.37:g.42167045T>G	ENSP00000328998:p.Ile75Met		Somatic				TRAK1_uc011azh.2_Missense_Mutation_p.I75M|TRAK1_uc011azi.2_Missense_Mutation_p.I75M	p.I75M	NM_001042646	NP_001036111	WXS	Illumina GAIIx	Phase_I	Q9UPV9	TRAK1_HUMAN			1	441	+			75			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.225T>G	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449698	0.43531	.	.	ENSG00000182606	ENST00000327628;ENST00000543338	T	0.16897	2.31	5.73	-0.277	0.12898	.	0.272610	0.33670	N	0.004662	T	0.09686	0.0238	N	0.22421	0.69	0.80722	D	1	P;B	0.39022	0.655;0.304	B;B	0.39771	0.309;0.214	T	0.25433	-1.0132	10	0.30078	T	0.28	.	6.4178	0.21725	0.0:0.3471:0.1282:0.5246	.	75;75	B7Z347;Q9UPV9	.;TRAK1_HUMAN	M	75	ENSP00000328998:I75M	ENSP00000328998:I75M	I	+	3	3	TRAK1	42142049	0.981000	0.34729	0.994000	0.49952	0.997000	0.91878	0.160000	0.16462	-0.037000	0.13646	0.533000	0.62120	ATT		0.463	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		50	99	0	0	0	1	0	50	99					G	42167045	T	G	42167045	3	3	339	1	0	0	0	0	1	0	0	0	16446	1829	64	5	231	5	TRAK1	3	42167045	Missense_Mutation	SNP	T	TCGA-ET-A40S-01A-11D-A23M-08		42167045	155855385	2	5809											
SNX9	51429	broad.mit.edu	37	6	158342658	158342658	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr6:158342658G>A	ENST00000392185.3	+	10	1216	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	349	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGAAAGTGAAGTTTTCCAGCA	0.428																																						uc003qqv.1																			0		p.E348*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1045-1047)Gtt>Att		Homo sapiens sorting nexin 9 (SNX9), mRNA.							85	81	83					6																	158342658		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158342658G>A	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1045G>A	6.37:g.158342658G>A	ENSP00000376024:p.Val349Ile		Somatic					p.V349I	NM_016224	NP_057308	WXS	Illumina GAIIx	Phase_I	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	9	1218	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	349			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1045G>A	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	8.882	0.951906	0.18431	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.42131	0.98	5.68	0.548	0.17208	Phox homologous domain (5);	0.183339	0.47455	D	0.000233	T	0.21145	0.0509	L	0.38175	1.15	0.58432	D	0.999999	B	0.23937	0.094	B	0.25140	0.058	T	0.23297	-1.0192	10	0.18710	T	0.47	-26.299	20.9179	0.99941	0.0:0.6978:0.3022:0.0	.	349	Q9Y5X1	SNX9_HUMAN	I	349;349;149	ENSP00000376024:V349I	ENSP00000252631:V149I	V	+	1	0	SNX9	158262646	1.000000	0.71417	0.574000	0.28523	0.732000	0.41865	3.692000	0.54727	2.159000	0.67721	0.459000	0.35465	GTT		0.428	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			24	44	0	0	0	1	0	24	44					A	158342658	G	A	158342658	3	1	339	1	0	0	0	0	1	0	0	0	14909	1029	36	2	1083	2	SNX9	6	158342658	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		158342658	12772409	3	5810											
SMARCD3	6604	broad.mit.edu	37	7	150936733	150936733	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr7:150936733G>A	ENST00000262188.8	-	11	1683	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R412C|SMARCD3_ENST00000392811.2_Missense_Mutation_p.R412C|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000477169.1_5'Flank	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	425					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCTGGGAGCGGAGCAGGTCT	0.537																																						uc003wjs.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(1273-1275)Cgc>Tgc		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.							108	111	110					7																	150936733		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150936733G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1273C>T	7.37:g.150936733G>A	ENSP00000262188:p.Arg425Cys		Somatic				SMARCD3_uc003wjt.3_Missense_Mutation_p.R412C|SMARCD3_uc003wju.3_Missense_Mutation_p.R412C	p.R425C	NM_001003801	NP_001003801	WXS	Illumina GAIIx	Phase_I	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	10	1374	-			425					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.1273C>T	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364043	0.41902	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.44482	0.92;0.92;0.92	5.09	4.21	0.49690	.	0.267477	0.39687	N	0.001296	T	0.26702	0.0653	N	0.14661	0.345	0.49582	D	0.999804	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.05484	-1.0882	10	0.56958	D	0.05	-5.6327	11.3474	0.49569	0.0888:0.0:0.9112:0.0	.	412;425	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	C	425;412;412;377	ENSP00000262188:R425C;ENSP00000376558:R412C;ENSP00000349254:R412C	ENSP00000262188:R425C	R	-	1	0	SMARCD3	150567666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	1.148000	0.42385	0.655000	0.94253	CGC		0.537	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		15	112	0	0	0	1	0	15	112					A	150936733	G	A	150936733	3	1	339	1	0	0	0	0	1	0	0	0	14779	1116	39	1	190	1	SMARCD3	7	150936733	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		150936733	8201930	4	5811											
PLEKHA5	54477	broad.mit.edu	37	12	19408022	19408022	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr12:19408022A>G	ENST00000299275.6	+	5	361	c.355A>G	c.(355-357)Ata>Gta	p.I119V	PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I119V|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I119V|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I119V|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I11V|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.I119V	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	119					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGAACGGCCAATAAGTATGAT	0.358																																					Pancreas(196;329 2193 11246 14234 19524)	uc010sie.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(355-357)Ata>Gta		Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 2, mRNA.							120	112	115					12																	19408022		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19408022A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.355A>G	12.37:g.19408022A>G	ENSP00000299275:p.Ile119Val		Somatic				PLEKHA5_uc001rea.3_Missense_Mutation_p.I119V|PLEKHA5_uc001reb.3_Missense_Mutation_p.I119V|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Missense_Mutation_p.I11V|PLEKHA5_uc010sih.1_Missense_Mutation_p.I11V|PLEKHA5_uc021qvy.1_Missense_Mutation_p.I11V	p.I119V	NM_001143821	NP_001137293	WXS	Illumina GAIIx	Phase_I	Q9HAU0	PKHA5_HUMAN			4	463	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		119					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.355A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	2.445	-0.327616	0.05314	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.28666	2.75;2.75;2.75;2.75;2.75;2.75;2.75;1.6;3.04;3.04;3.03	4.87	2.47	0.30058	.	0.455403	0.24625	N	0.036935	T	0.10465	0.0256	N	0.08118	0	0.48901	D	0.999728	B;B;B;B;B;B	0.11235	0.004;0.001;0.001;0.002;0.001;0.002	B;B;B;B;B;B	0.11329	0.006;0.003;0.002;0.002;0.003;0.004	T	0.25152	-1.0140	10	0.02654	T	1	-7.9378	3.3669	0.07207	0.5517:0.2052:0.2431:0.0	.	119;11;11;119;119;119	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	V	119;119;119;119;119;119;119;119;119;11;11;11;11	ENSP00000325155:I119V;ENSP00000347560:I119V;ENSP00000352104:I119V;ENSP00000311239:I119V;ENSP00000404296:I119V;ENSP00000299275:I119V;ENSP00000439673:I119V;ENSP00000446308:I11V;ENSP00000400411:I11V;ENSP00000439837:I11V;ENSP00000440371:I11V	ENSP00000299275:I119V	I	+	1	0	PLEKHA5	19299289	0.098000	0.21812	0.744000	0.31058	0.977000	0.68977	0.552000	0.23376	0.336000	0.23639	0.377000	0.23210	ATA		0.358	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		21	57	0	0	0	1	0	21	57					G	19408022	A	G	19408022	3	3	339	1	0	0	0	0	1	0	0	0	12059	101	4	3	373	3	PLEKHA5	12	19408022	Missense_Mutation	SNP	A	TCGA-ET-A40S-01A-11D-A23M-08		19408022	114443873	5	5812											
PPL	5493	broad.mit.edu	37	16	4934540	4934540	+	Silent	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr16:4934540G>A	ENST00000345988.2	-	22	4205	c.4116C>T	c.(4114-4116)gcC>gcT	p.A1372A	PPL_ENST00000590782.2_Silent_p.A1370A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1372					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						CGATGCTCTCGGCAAAGGCGC	0.677																																						uc002cyd.1																			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.(4114-4116)gcC>gcT		Homo sapiens periplakin (PPL), mRNA.							92	99	97					16																	4934540		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934540G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4116C>T	16.37:g.4934540G>A			Somatic					p.A1372A	NM_002705	NP_002696	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			21	4206	-			1372					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4116C>T	CCDS10526.1																																																																																				0.677	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		29	211	0	0	0	1	0	29	211					A	4934540	G	A	4934540	2	1	339	1	0	0	0	0	0	0	0	1	12334	1103	39	1		1	PPL	16	4934540	Silent	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08		4934540	85420213	6	5813											
MYH13	8735	broad.mit.edu	37	17	10265497	10265497	+	Missense_Mutation	SNP	C	C	T	rs202246911		TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr17:10265497C>T	ENST00000418404.3	-	4	606	c.443G>A	c.(442-444)cGc>cAc	p.R148H	MYH13_ENST00000252172.4_Missense_Mutation_p.R148H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	148	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCCTCCTGGCGCTTTTTGCC	0.527																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(442-444)cGc>cAc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	82	92	88		443	4.1	1.0	17		88	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYH13	NM_003802.2	29	0,4,6496	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	148/1939	10265497	4,12996	2203	4297	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10265497C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.443G>A	17.37:g.10265497C>T	ENSP00000404570:p.Arg148His		Somatic					p.R148H	NM_003802	NP_003793	WXS	Illumina GAIIx	Phase_I	Q9UKX3	MYH13_HUMAN			4	533	-			148			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.443G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302836	0.81136	6.81E-4	1.16E-4	ENSG00000006788	ENST00000252172	D	0.88354	-2.37	4.08	4.08	0.47627	Myosin head, motor domain (2);	.	.	.	.	D	0.96228	0.8770	H	0.96430	3.82	0.46061	D	0.998848	D	0.89917	1.0	D	0.77004	0.989	D	0.97787	1.0236	9	0.87932	D	0	.	16.8101	0.85717	0.0:1.0:0.0:0.0	.	148	Q9UKX3	MYH13_HUMAN	H	148	ENSP00000252172:R148H	ENSP00000252172:R148H	R	-	2	0	MYH13	10206222	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	7.492000	0.81482	2.272000	0.75746	0.313000	0.20887	CGC		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		63	121	0	0	0	1	0	63	121					T	10265497	C	T	10265497	3	4	339	1	0	0	0	0	1	0	0	0	10032	768	27	1	5521	1	MYH13	17	10265497	Missense_Mutation	SNP	C	TCGA-ET-A40S-01A-11D-A23M-08		10265497	70929713	7	5814											
MIER2	54531	broad.mit.edu	37	19	334487	334487	+	Silent	SNP	C	C	T			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:334487C>T	ENST00000264819.4	-	3	166	c.156G>A	c.(154-156)caG>caA	p.Q52Q	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CACTGTAGTTCTGTGACAGGA	0.597																																						uc002lok.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(154-156)caG>caA		Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.							131	112	118					19																	334487		2203	4300	6503	SO:0001819	synonymous_variant	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:334487C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.156G>A	19.37:g.334487C>T			Somatic					p.Q52Q	NM_017550	NP_060020	WXS	Illumina GAIIx	Phase_I	Q8N344	MIER2_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	165	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	52					Q9ULM7	Silent	SNP	ENST00000264819.4	37	c.156G>A	CCDS32855.1																																																																																				0.597	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		21	86	0	0	0	1	0	21	86					T	334487	C	T	334487	2	4	339	1	0	0	0	0	0	0	0	1	9581	912	32	2		2	MIER2	19	334487	Silent	SNP	C	TCGA-ET-A40S-01A-11D-A23M-08		334487	58794496	8	5815											
LILRB1	10859	broad.mit.edu	37	19	55145098	55145098	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A40S-01A-11D-A23M-08	TCGA-ET-A40S-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ca41acc-aede-46b8-9b84-0e7db08d92f3	81b90d1a-50de-4b44-9223-da38169863a6	g.chr19:55145098G>A	ENST00000396331.1	+	9	1628	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	LILRB1_ENST00000324602.7_Missense_Mutation_p.G424E|LILRB1_ENST00000396332.4_Missense_Mutation_p.G424E|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.G424E|LILRB1_ENST00000434867.2_Missense_Mutation_p.G424E|LILRB1_ENST00000396327.3_Missense_Mutation_p.G424E|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.G460E|LILRB1_ENST00000396321.2_Missense_Mutation_p.G424E|LILRB1_ENST00000396315.1_Missense_Mutation_p.G424E	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	424					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGACCGTCTGGGGGCCCCAGC	0.612										HNSCC(37;0.09)																												uc002qgm.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1270-1272)gGg>gAg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 2, mRNA.							27	32	31					19																	55145098		1913	4118	6031	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55145098G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1271G>A	19.37:g.55145098G>A	ENSP00000379622:p.Gly424Glu	HNSCC(37;0.09)	Somatic				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.3_Missense_Mutation_p.G424E|LILRB1_uc002qgl.3_Missense_Mutation_p.G424E|LILRB1_uc002qgk.3_Missense_Mutation_p.G424E|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript	p.G424E	NM_001081637	NP_001075106	WXS	Illumina GAIIx	Phase_I	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1436	+			424					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1271G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.438043	0.01098	.	.	ENSG00000104972	ENST00000396321;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396315	T;T;T;T;T;T;T;T;T	0.00505	7.07;6.93;7.07;7.05;7.03;7.07;7.07;7.06;7.03	2.02	-0.245	0.13027	.	.	.	.	.	T	0.00328	0.0010	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.16396	0.007;0.017;0.016;0.011	B;B;B;B	0.23852	0.02;0.027;0.049;0.016	T	0.45131	-0.9282	9	0.02654	T	1	.	4.1604	0.10280	0.3938:0.0:0.6062:0.0	.	424;424;424;424	Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;LIRB1_HUMAN	E	424;424;424;424;424;424;424;460;424	ENSP00000379614:G424E;ENSP00000409968:G424E;ENSP00000379622:G424E;ENSP00000379618:G424E;ENSP00000315997:G424E;ENSP00000405243:G424E;ENSP00000379623:G424E;ENSP00000395004:G460E;ENSP00000379608:G424E	ENSP00000315997:G424E	G	+	2	0	LILRB1	59836910	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.050000	0.14120	0.013000	0.14918	0.195000	0.17529	GGG		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			13	8	0	0	0	1	0	13	8					A	55145098	G	A	55145098	3	1	339	1	0	0	0	0	1	0	0	0	8790	1232	43	2	1297	2	LILRB1	19	55145098	Missense_Mutation	SNP	G	TCGA-ET-A40S-01A-11D-A23M-08	54810611	55145098	3983885	9	5816											
ADD2	119	broad.mit.edu	37	2	70900084	70900084	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr2:70900084G>A	ENST00000264436.4	-	15	2240	c.1796C>T	c.(1795-1797)gCt>gTt	p.A599V	ADD2_ENST00000407644.2_Missense_Mutation_p.A599V|ADD2_ENST00000355733.3_Missense_Mutation_p.L628F	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	599					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CACTGGAGAAGCAGGTGCAGA	0.512																																						uc021vjc.1																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1795-1797)gCt>gTt		Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.							38	37	37					2																	70900084		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70900084G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1796C>T	2.37:g.70900084G>A	ENSP00000264436:p.Ala599Val		Somatic				ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.L628F|ADD2_uc002sgz.3_Missense_Mutation_p.A599V	p.A599V	NM_001185054	NP_001608	WXS	Illumina GAIIx	Phase_I	P35612	ADDB_HUMAN			14	2061	-			599					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1796C>T	CCDS1906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.191944|2.191944	0.38707|0.38707	.|.	.|.	ENSG00000075340|ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320|ENST00000355733	T;T|T	0.14893|0.08896	2.47;2.47|3.04	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.292022|.	0.31872|.	N|.	0.006939|.	T|T	0.12561|0.12561	0.0305|0.0305	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B|B	0.06786|0.27791	0.0;0.001|0.189	B;B|B	0.06405|0.31686	0.002;0.001|0.134	T|T	0.02081|0.02081	-1.1217|-1.1217	9|8	0.25106|0.72032	T|D	0.35|0.01	-3.9928|-3.9928	17.9218|17.9218	0.88969|0.88969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	599;599|628	Q05DK5;P35612|P35612-3	.;ADDB_HUMAN|.	V|F	599;599;351|628	ENSP00000264436:A599V;ENSP00000384677:A599V|ENSP00000347972:L628F	ENSP00000264436:A599V|ENSP00000347972:L628F	A|L	-|-	2|1	0|0	ADD2|ADD2	70753592|70753592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.514000|0.514000	0.34195|0.34195	3.745000|3.745000	0.55119|0.55119	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.512	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		6	29	0	0	0	1	0	6	29					A	70900084	G	A	70900084	3	1	340	1	0	0	0	0	1	0	0	0	305	971	34	2	392	2	ADD2	2	70900084	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		70900084	172299289	1	5817											
GLI2	2736	broad.mit.edu	37	2	121729541	121729541	+	Missense_Mutation	SNP	G	G	A	rs370677655		TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr2:121729541G>A	ENST00000452319.1	+	8	1144	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I	GLI2_ENST00000314490.11_Missense_Mutation_p.V34I|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.V362I					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)				TGAGTCGGCCGTCAGCAGCAC	0.592																																						uc010flp.3																			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.(1084-1086)Gtc>Atc		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.		G	ILE/VAL	0,4406		0,0,2203	64	58	60		1084	4.8	0.9	2		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLI2	NM_005270.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	362/1587	121729541	1,13005	2203	4300	6503	SO:0001583	missense	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.chr2:121729541G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1084G>A	2.37:g.121729541G>A	ENSP00000390436:p.Val362Ile		Somatic				GLI2_uc002tmq.1_Missense_Mutation_p.V34I|GLI2_uc002tmr.1_Missense_Mutation_p.V34I|GLI2_uc002tmt.4_Missense_Mutation_p.V34I|GLI2_uc002tmu.4_Missense_Mutation_p.V34I|GLI2_uc010flo.1_Missense_Mutation_p.V237I|GLI2_uc002tmw.1_Missense_Mutation_p.V362I	p.V362I	NM_005270	NP_005261	WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			6	1114	+	Renal(3;0.0496)	Prostate(154;0.0623)	362						Missense_Mutation	SNP	ENST00000452319.1	37	c.1084G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158123	0.78114	0.0	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.18810	2.19;2.19;2.19	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.79475	2.455	0.58432	D	0.999994	P;D;D;D;D	0.89917	0.835;0.999;0.999;0.999;1.0	B;D;D;D;D	0.81914	0.137;0.979;0.991;0.948;0.995	T	0.53920	-0.8370	10	0.66056	D	0.02	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	362;362;34;34;34	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	I	362;362;34	ENSP00000390436:V362I;ENSP00000354586:V362I;ENSP00000312694:V34I	ENSP00000312694:V34I	V	+	1	0	GLI2	121446011	1.000000	0.71417	0.947000	0.38551	0.161000	0.22273	9.652000	0.98499	2.498000	0.84270	0.561000	0.74099	GTC		0.592	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		12	47	0	0	0	1	0	12	47					A	121729541	G	A	121729541	3	1	340	1	0	0	0	0	1	0	0	0	6438	1145	40	1	1110	1	GLI2	2	121729541	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08	50829457	121729541	121469832	2	5818											
BOD1L	259282	broad.mit.edu	37	4	13597501	13597501	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr4:13597501C>T	ENST00000040738.5	-	12	8222	c.8087G>A	c.(8086-8088)gGa>gAa	p.G2696E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2696						nucleus (GO:0005634)	DNA binding (GO:0003677)										ACTTGGCTTTCCCCCACACAG	0.378																																						uc003gmz.1																			0											c.(8086-8088)gGa>gAa		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							179	185	183					4																	13597501		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13597501C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8087G>A	4.37:g.13597501C>T	ENSP00000040738:p.Gly2696Glu		Somatic					p.G2696E	NM_148894	NP_683692	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			11	8204	-			2696					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.8087G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.570811	0.00895	.	.	ENSG00000038219	ENST00000040738	T	0.05786	3.39	4.84	-4.41	0.03590	.	1.173830	0.06193	N	0.681784	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45116	-0.9283	10	0.27082	T	0.32	-0.0285	13.0357	0.58870	0.0:0.2371:0.0:0.7629	.	2696	Q8NFC6	BOD1L_HUMAN	E	2696	ENSP00000040738:G2696E	ENSP00000040738:G2696E	G	-	2	0	BOD1L	13206599	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.715000	0.04997	-0.924000	0.03780	-0.355000	0.07637	GGA		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		16	123	0	0	0	1	0	16	123					T	13597501	C	T	13597501	3	4	340	1	0	0	0	0	1	0	0	0	1483	855	30	2	1128	2	BOD1L	4	13597501	Missense_Mutation	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08		13597501	177556775	3	5819											
CDKN1A	1026	broad.mit.edu	37	6	36651904	36651904	+	Missense_Mutation	SNP	G	G	C	rs143419412	byFrequency	TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr6:36651904G>C	ENST00000405375.1	+	2	261	c.26G>C	c.(25-27)cGt>cCt	p.R9P	CDKN1A_ENST00000373711.2_Missense_Mutation_p.R9P|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R43P|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R9P	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	9					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGGGATGTCCGTCAGAACCCA	0.632																																						uc011dtq.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(127-129)cGt>cCt		Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.							28	29	29					6																	36651904		2203	4300	6503	SO:0001583	missense	1026				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence	PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651904G>C	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.26G>C	6.37:g.36651904G>C	ENSP00000384849:p.Arg9Pro		Somatic				CDKN1A_uc021yzb.1_Missense_Mutation_p.R9P|CDKN1A_uc021yzc.1_Missense_Mutation_p.R9P|CDKN1A_uc003omm.4_Missense_Mutation_p.R9P|CDKN1A_uc003omn.3_Missense_Mutation_p.R9P	p.R43P	NM_078467	NP_510867	WXS	Illumina GAIIx	Phase_I	P38936	CDN1A_HUMAN			1	154	+			9					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.128G>C	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816583	0.32145	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.82081	-1.54;-1.57;-1.57;-1.57	5.06	-0.214	0.13161	.	0.538000	0.17088	N	0.187482	T	0.55386	0.1917	L	0.54323	1.7	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.48948	-0.8989	10	0.46703	T	0.11	-0.2002	1.9604	0.03385	0.1877:0.3482:0.3256:0.1385	.	43;9;9	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	P	43;9;9;9	ENSP00000409259:R43P;ENSP00000244741:R9P;ENSP00000384849:R9P;ENSP00000362815:R9P	ENSP00000244741:R9P	R	+	2	0	CDKN1A	36759882	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.184000	0.09698	-0.252000	0.09528	0.561000	0.74099	CGT		0.632	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		7	32	0	0	0	1	0	7	32					C	36651904	G	C	36651904	3	2	340	1	0	0	0	0	1	0	0	0	3158	1145	40	4	28	4	CDKN1A	6	36651904	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		36651904	134463163	4	5820											
PTK2B	2185	broad.mit.edu	37	8	27291612	27291612	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr8:27291612G>A	ENST00000397501.1	+	17	1916	c.1108G>A	c.(1108-1110)Ggt>Agt	p.G370S	PTK2B_ENST00000397497.4_Missense_Mutation_p.G116S|PTK2B_ENST00000420218.2_Missense_Mutation_p.G370S|PTK2B_ENST00000346049.5_Missense_Mutation_p.G370S|PTK2B_ENST00000517339.1_Missense_Mutation_p.G370S|PTK2B_ENST00000544172.1_Missense_Mutation_p.G370S|PTK2B_ENST00000338238.4_Missense_Mutation_p.G370S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	370					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTTCCTAGATGGTGAGAAGCG	0.582																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1108-1110)Ggt>Agt		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.							124	116	119					8																	27291612		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27291612G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1108G>A	8.37:g.27291612G>A	ENSP00000380638:p.Gly370Ser		Somatic				PTK2B_uc022ate.1_Missense_Mutation_p.G370S|PTK2B_uc003xfp.2_Missense_Mutation_p.G370S|PTK2B_uc003xfq.2_Missense_Mutation_p.G370S|PTK2B_uc010luq.1_Missense_Mutation_p.G128S|PTK2B_uc003xfr.1_Missense_Mutation_p.G116S	p.G370S	NM_173174	NP_775268	WXS	Illumina GAIIx	Phase_I	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	16	1916	+		Ovarian(32;2.72e-05)	370					D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1108G>A	CCDS6057.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.785508|2.785508	0.49997|0.49997	.|.	.|.	ENSG00000120899|ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497|ENST00000519512	T;T;T;T;T;T;T|.	0.74526|.	-0.85;-0.8;-0.85;-0.85;-0.8;-0.8;-0.81|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.447714|.	0.26262|.	N|.	0.025394|.	T|.	0.48909|.	0.1526|.	L|L	0.36672|0.36672	1.1|1.1	0.35223|0.35223	D|D	0.776227|0.776227	B;B;B;B|.	0.13145|.	0.004;0.001;0.007;0.003|.	B;B;B;B|.	0.17098|.	0.005;0.003;0.011;0.017|.	T|.	0.57183|.	-0.7855|.	10|.	0.32370|.	T|.	0.25|.	.|.	9.8231|9.8231	0.40894|0.40894	0.0939:0.0:0.9061:0.0|0.0939:0.0:0.9061:0.0	.|.	375;116;370;370|.	Q59GM4;E9PBI4;Q14289-2;Q14289|.	.;.;.;FAK2_HUMAN|.	S|X	370;375;370;370;370;370;370;116|130	ENSP00000380638:G370S;ENSP00000342242:G370S;ENSP00000440926:G370S;ENSP00000332816:G370S;ENSP00000391995:G370S;ENSP00000427931:G370S;ENSP00000380634:G116S|.	ENSP00000342242:G370S|.	G|W	+|+	1|2	0|0	PTK2B|PTK2B	27347529|27347529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.806000|0.806000	0.45545|0.45545	2.182000|2.182000	0.42556|0.42556	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.582	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		22	89	0	0	0	1	0	22	89					A	27291612	G	A	27291612	3	1	340	1	0	0	0	0	1	0	0	0	12763	1348	47	2	1150	2	PTK2B	8	27291612	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		27291612	119072410	5	5821											
ITGA7	3679	broad.mit.edu	37	12	56091578	56091578	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr12:56091578T>G	ENST00000555728.1	-	10	1470	c.1442A>C	c.(1441-1443)aAg>aCg	p.K481T	ITGA7_ENST00000553804.1_Missense_Mutation_p.K441T|ITGA7_ENST00000394230.2_Missense_Mutation_p.K441T|ITGA7_ENST00000257879.6_Missense_Mutation_p.K437T|ITGA7_ENST00000394229.2_Missense_Mutation_p.K437T|ITGA7_ENST00000347027.6_Missense_Mutation_p.K437T|ITGA7_ENST00000257880.7_Missense_Mutation_p.K481T|ITGA7_ENST00000452168.2_Missense_Mutation_p.K344T			Q13683	ITA7_HUMAN	integrin, alpha 7	481					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCGAAGCTCTTGATGCCCAC	0.622																																						uc001shh.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1321-1323)aAg>aCg		Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.							97	97	97					12																	56091578		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091578T>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1442A>C	12.37:g.56091578T>G	ENSP00000452387:p.Lys481Thr		Somatic				ITGA7_uc001shg.3_Missense_Mutation_p.K437T|ITGA7_uc010sps.2_Missense_Mutation_p.K344T|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.K324T	p.K441T	NM_001144996	NP_001138468	WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			8	1542	-			481					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1322A>C		.	.	.	.	.	.	.	.	.	.	T	8.202	0.798338	0.16397	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	4.28	-1.67	0.08238	.	0.494083	0.19772	N	0.106405	T	0.45458	0.1343	N	0.16130	0.375	0.38961	D	0.958542	B;B;B;B	0.18461	0.028;0.003;0.011;0.018	B;B;B;B	0.18871	0.023;0.007;0.023;0.021	T	0.09037	-1.0693	10	0.48119	T	0.1	.	4.6958	0.12802	0.0:0.3193:0.1599:0.5208	.	344;481;441;500	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	T	441;437;437;344;481;441;437;481;481	ENSP00000452120:K441T;ENSP00000257879:K437T;ENSP00000343009:K437T;ENSP00000393844:K344T;ENSP00000257880:K481T;ENSP00000377777:K441T;ENSP00000377776:K437T;ENSP00000452387:K481T	ENSP00000257879:K437T	K	-	2	0	ITGA7	54377845	0.000000	0.05858	0.982000	0.44146	0.579000	0.36224	-1.670000	0.01956	-0.114000	0.11936	-0.366000	0.07423	AAG		0.622	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		7	121	0	0	0	1	0	7	121					G	56091578	T	G	56091578	3	3	340	1	0	0	0	0	1	0	0	0	7881	1609	56	5	2171	5	ITGA7	12	56091578	Missense_Mutation	SNP	T	TCGA-ET-A4KN-01A-11D-A257-08		56091578	77760317	6	5822											
MON2	23041	broad.mit.edu	37	12	62986421	62986421	+	Silent	SNP	C	C	T			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr12:62986421C>T	ENST00000393632.2	+	35	5437	c.5046C>T	c.(5044-5046)tgC>tgT	p.C1682C	MON2_ENST00000393629.2_Silent_p.C1676C|MON2_ENST00000393630.3_Silent_p.C1683C|MON2_ENST00000551397.1_Silent_p.C56C|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000552738.1_Silent_p.C1653C	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1682					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGTAGAATGCATCACCTGTT	0.393																																						uc001sre.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(5044-5046)tgC>tgT		Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.							131	119	123					12																	62986421		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62986421C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.5046C>T	12.37:g.62986421C>T			Somatic				MON2_uc010ssn.2_Silent_p.C1676C|MON2_uc009zqj.3_3'UTR|MON2_uc010ssl.2_Silent_p.C1610C|MON2_uc010ssm.2_Silent_p.C1653C|MON2_uc001srf.3_Silent_p.C1445C|MON2_uc001srg.3_Silent_p.C551C	p.C1682C	NM_015026	NP_055841	WXS	Illumina GAIIx	Phase_I	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	34	5437	+			1683					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.5046C>T	CCDS31849.1																																																																																				0.393	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		22	43	0	0	0	1	0	22	43					T	62986421	C	T	62986421	2	4	340	1	0	0	0	0	0	0	0	1	9700	718	25	2		2	MON2	12	62986421	Silent	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08	6894843	62986421	70865474	7	5823											
PRC1	9055	broad.mit.edu	37	15	91517940	91517940	+	Nonsense_Mutation	SNP	G	G	A	rs549267890		TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr15:91517940G>A	ENST00000361188.5	-	10	2436	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	PRC1_ENST00000361919.3_Nonsense_Mutation_p.R409*|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Nonsense_Mutation_p.R409*|PRC1_ENST00000442656.2_Nonsense_Mutation_p.R368*|Y_RNA_ENST00000363272.1_RNA|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AATTCAATTCGTGCCTTCAAC	0.413																																						uc002bqm.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1225-1227)Cga>Tga		Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.							343	308	320					15																	91517940		2198	4298	6496	SO:0001587	stop_gained	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517940G>A	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"anaphase spindle elongation 1 homolog (S. cerevisiae)"	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1225C>T	15.37:g.91517940G>A	ENSP00000354679:p.Arg409*		Somatic				PRC1_uc002bqn.3_Nonsense_Mutation_p.R409*|PRC1_uc002bqo.3_Nonsense_Mutation_p.R409*|PRC1_uc010uqs.2_Nonsense_Mutation_p.R368*	p.R409*	NM_003981	NP_003972	WXS	Illumina GAIIx	Phase_I	O43663	PRC1_HUMAN			9	1382	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		409			Spectrin-fold.			Nonsense_Mutation	SNP	ENST00000361188.5	37	c.1225C>T	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	47	13.332810	0.99735	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	.	.	.	5.54	3.56	0.40772	.	0.570075	0.19903	N	0.103471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	14.4014	0.67050	0.0:0.0:0.5522:0.4478	.	.	.	.	X	409;409;409;12;368	.	ENSP00000354679:R409X	R	-	1	2	PRC1	89318944	0.010000	0.17322	0.547000	0.28179	0.946000	0.59487	0.995000	0.29706	1.523000	0.49018	0.650000	0.86243	CGA		0.413	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		9	199	0	0	0	1	0	9	199					A	91517940	G	A	91517940	4	1	340	1	0	0	0	0	0	1	0	0	12446	1153	40	1	661	1	PRC1	15	91517940	Nonsense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		91517940	11013452	8	5824											
C16orf5	29965	broad.mit.edu	37	16	4563025	4563025	+	Silent	SNP	G	G	A			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr16:4563025G>A	ENST00000399599.3	-	4	830	c.282C>T	c.(280-282)taC>taT	p.Y94Y	CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000563332.2_Silent_p.Y94Y|CDIP1_ENST00000567695.1_Silent_p.Y94Y|CDIP1_ENST00000562334.1_Intron			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1	94	Pro-rich.				apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)											CTGGGGGGTAGTAGCCCATGG	0.657																																						uc002cwv.3																			0				NS(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(280-282)taC>taT		Homo sapiens chromosome 16 open reading frame 5 (C16orf5), transcript variant 1, mRNA.							10	11	10					16																	4563025		1844	4053	5897	SO:0001819	synonymous_variant	29965				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus		g.chr16:4563025G>A	AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"cell death involved p53-target", "lipopolysaccharide-induced TNF factor-like"	610503	"chromosome 16 open reading frame 5"	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.282C>T	16.37:g.4563025G>A			Somatic				C16orf5_uc002cww.3_Silent_p.Y94Y|C16orf5_uc010uxl.2_Intron|C16orf5_uc010uxm.2_Intron|C16orf5_uc010btu.3_Intron|C16orf5_uc002cwu.3_Silent_p.Y94Y	p.Y94Y	NM_001199054	NP_001185983	WXS	Illumina GAIIx	Phase_I	Q9H305	LITFL_HUMAN			4	532	-		Ovarian(90;0.17)	94			Pro-rich.		A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Silent	SNP	ENST00000399599.3	37	c.282C>T	CCDS42114.1																																																																																				0.657	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435718.2	NM_013399		3	3	0	0	0	1	0	3	3					A	4563025	G	A	4563025	2	1	340	1	0	0	0	0	0	0	0	1	1817	1024	36	2		2	C16orf5	16	4563025	Silent	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		4563025	85791728	9	5825											
MMP2	4313	broad.mit.edu	37	16	55516924	55516924	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr16:55516924C>G	ENST00000219070.4	+	2	766	c.257C>G	c.(256-258)aCa>aGa	p.T86R	MMP2_ENST00000437642.2_Missense_Mutation_p.T36R|MMP2_ENST00000570308.1_Missense_Mutation_p.T10R|MMP2_ENST00000543485.1_Missense_Mutation_p.T10R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	86					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CTGCCCCAGACAGGTGATCTT	0.532																																						uc002ehz.4																			0		p.T86T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(256-258)aCa>aGa		Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	Marimastat(DB00786)|Sulindac(DB00605)						126	118	121					16																	55516924		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55516924C>G		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.257C>G	16.37:g.55516924C>G	ENSP00000219070:p.Thr86Arg		Somatic				MMP2_uc010vhd.2_Missense_Mutation_p.T10R|MMP2_uc010ccc.3_Missense_Mutation_p.T36R	p.T86R	NM_004530	NP_004521	WXS	Illumina GAIIx	Phase_I	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	1	568	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	86					B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.257C>G	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714076	0.89112	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.55588	0.51;0.51;0.51	5.05	5.05	0.67936	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.050205	0.85682	D	0.000000	T	0.81531	0.4842	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87679	0.2546	10	0.87932	D	0	.	18.4152	0.90567	0.0:1.0:0.0:0.0	.	36;86	E9PE45;P08253	.;MMP2_HUMAN	R	86;10;36	ENSP00000219070:T86R;ENSP00000444143:T10R;ENSP00000394237:T36R	ENSP00000219070:T86R	T	+	2	0	MMP2	54074425	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	7.818000	0.86416	2.354000	0.79902	0.460000	0.39030	ACA		0.532	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			12	81	0	0	0	1	0	12	81					G	55516924	C	G	55516924	3	3	340	1	0	0	0	0	1	0	0	0	9658	478	17	4	270	4	MMP2	16	55516924	Missense_Mutation	SNP	C	TCGA-ET-A4KN-01A-11D-A257-08	50953899	55516924	34837829	10	5826											
MED11	400569	broad.mit.edu	37	17	4634849	4634849	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A4KN-01A-11D-A257-08	TCGA-ET-A4KN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	178d0486-cb0d-4979-8bdf-bb3fe99149bd	e3d4072c-07ef-4978-a687-43828578a9b3	g.chr17:4634849G>A	ENST00000293777.5	+	1	121	c.65G>A	c.(64-66)gGc>gAc	p.G22D	MED11_ENST00000573708.1_Missense_Mutation_p.G22D|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000575284.1_Missense_Mutation_p.G22D	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	22						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						CGGGAAATCGGCGCCATCCTT	0.577											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fyp.3																			0				lung(2)|ovary(2)	4						c.(64-66)gGc>gAc		Homo sapiens mediator complex subunit 11 (MED11), mRNA.							94	75	82					17																	4634849		2203	4300	6503	SO:0001583	missense	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4634849G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.65G>A	17.37:g.4634849G>A	ENSP00000293777:p.Gly22Asp		Somatic	OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620		p.G22D	NM_001001683	NP_001001683	WXS	Illumina GAIIx	Phase_I	Q9P086	MED11_HUMAN			0	127	+			22					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.65G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009514	0.75046	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.06	5.06	0.68205	.	0.066615	0.56097	D	0.000030	T	0.31702	0.0805	N	0.08118	0	0.43242	D	0.995152	B	0.26195	0.144	B	0.23852	0.049	T	0.15263	-1.0443	9	0.39692	T	0.17	-25.2285	11.6077	0.51041	0.0:0.1796:0.8204:0.0	.	22	Q9P086	MED11_HUMAN	D	22	.	ENSP00000293777:G22D	G	+	2	0	MED11	4581598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.826000	0.62715	2.630000	0.89119	0.655000	0.94253	GGC		0.577	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		10	37	0	0	0	1	0	10	37					A	4634849	G	A	4634849	3	1	340	1	0	0	0	0	1	0	0	0	9427	1203	42	2	67	2	MED11	17	4634849	Missense_Mutation	SNP	G	TCGA-ET-A4KN-01A-11D-A257-08		4634849	76560361	11	5827											
RHOQ	23433	broad.mit.edu	37	2	46803383	46803383	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:46803383G>A	ENST00000238738.4	+	3	678	c.359G>A	c.(358-360)gGa>gAa	p.G120E	RHOQ_ENST00000465198.1_3'UTR|RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	120					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTATTAATAGGAACTCAGGTA	0.418																																						uc002rva.3																			0				skin(2)	2						c.(358-360)gGa>gAa		Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.							64	63	63					2																	46803383		2203	4300	6503	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803383G>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"RAS-like, family 7, member A", "ras homolog gene family, member Q"	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.359G>A	2.37:g.46803383G>A	ENSP00000238738:p.Gly120Glu		Somatic				BC048424_uc002rvb.3_Intron	p.G120E	NM_012249	NP_036381	WXS	Illumina GAIIx	Phase_I	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	678	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	120					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.359G>A	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304873	0.95601	.	.	ENSG00000119729	ENST00000238738;ENST00000482449	D;D	0.85773	-2.03;-2.03	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	H	0.99955	5.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98463	1.0597	10	0.87932	D	0	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	120	P17081	RHOQ_HUMAN	E	120;41	ENSP00000238738:G120E;ENSP00000428006:G41E	ENSP00000238738:G120E	G	+	2	0	RHOQ	46656887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.882000	0.98803	0.655000	0.94253	GGA		0.418	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		12	18	0	0	0	1	0	12	18					A	46803383	G	A	46803383	3	1	341	1	0	0	0	0	1	0	0	0	13342	1174	41	2	369	2	RHOQ	2	46803383	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08		46803383	196395990	1	5828											
RGPD4	285190	broad.mit.edu	37	2	108477236	108477236	+	Missense_Mutation	SNP	T	T	G	rs189216330	byFrequency	TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr2:108477236T>G	ENST00000408999.3	+	13	1850	c.1773T>G	c.(1771-1773)aaT>aaG	p.N591K	RGPD4_ENST00000354986.4_Missense_Mutation_p.N591K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	591					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGGTCTTAATTCTTTTTATG	0.323																																						uc010ywk.2																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1771-1773)aaT>aaG		Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.							170	122	137					2																	108477236		692	1588	2280	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108477236T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1773T>G	2.37:g.108477236T>G	ENSP00000386810:p.Asn591Lys		Somatic				RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	p.N591K	NM_182588	NP_872394	WXS	Illumina GAIIx	Phase_I	Q7Z3J3	RGPD4_HUMAN			12	1855	+			591					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1773T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	3.853	-0.031503	0.07543	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38077	1.16;1.16	2.6	2.6	0.31112	.	.	.	.	.	T	0.49115	0.1538	M	0.67953	2.075	0.29299	N	0.868807	D	0.71674	0.998	D	0.75484	0.986	T	0.41034	-0.9531	9	0.15952	T	0.53	-17.7891	5.7428	0.18104	0.0:0.1426:0.0:0.8574	.	591	Q7Z3J3	RGPD4_HUMAN	K	591;591;349	ENSP00000347081:N591K;ENSP00000386810:N591K	ENSP00000347081:N591K	N	+	3	2	RGPD4	107843668	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	2.606000	0.46291	1.068000	0.40764	0.128000	0.15822	AAT		0.323	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		38	65	0	0	0	1	0	38	65					G	108477236	T	G	108477236	3	3	341	1	0	0	0	0	1	0	0	0	13288	1490	52	5	1823	5	RGPD4	2	108477236	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	61673853	108477236	134722137	2	5829											
SNX18	112574	broad.mit.edu	37	5	53814143	53814143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr5:53814143delC	ENST00000326277.3	+	1	551	c.361delC	c.(361-363)ccgfs	p.P122fs	SNX18_ENST00000343017.6_Frame_Shift_Del_p.P122fs|SNX18_ENST00000381410.4_Frame_Shift_Del_p.P122fs	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	122					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)				CACCTTCCAGCCGCCCGGCGC	0.746																																						uc003jpj.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(361-363)ccgfs		Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.							2	3	2					5																	53814143		1004	2269	3273	SO:0001589	frameshift_variant	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.chr5:53814143delC	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.361delC	5.37:g.53814143delC	ENSP00000317332:p.Pro122fs		Somatic				SNX18_uc011cqg.2_Frame_Shift_Del_p.P121fs|SNX18_uc003jpi.4_Frame_Shift_Del_p.P121fs	p.P121fs	NM_052870	NP_443102	WXS	Illumina GAIIx	Phase_I	Q96RF0	SNX18_HUMAN			0	551	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	121					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Frame_Shift_Del	DEL	ENST00000326277.3	37	c.361delC	CCDS3962.1																																																																																				0.746	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			2	4						2	4	---	---	---	---	-	53814143	C	-	53814143	7	5	341	1	0	1	0	1	0	0	0	0	14889	739	26	0	363	0	SNX18	5	53814143	Frame_Shift_Del	DEL	C	TCGA-FE-A22Z-01A-11D-A17V-08		53814143	127101117	3	5830											
HLA-DMB	3109	broad.mit.edu	37	6	32906598	32906598	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:32906598C>T	ENST00000418107.2	-	2	462	c.200G>A	c.(199-201)gGg>gAg	p.G67E	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.G67E|AL645941.1_ENST00000390777.1_RNA|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G99E	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	67	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ATTCAGCACCCCAAATTCGCA	0.517																																						uc003ocl.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(199-201)gGg>gAg		Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.							117	119	118					6																	32906598		1511	2709	4220	SO:0001583	missense	3109				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane		g.chr6:32906598C>T		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.200G>A	6.37:g.32906598C>T	ENSP00000398890:p.Gly67Glu		Somatic				HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_5'Flank|HLA-DMB_uc010jue.2_5'Flank|HLA-DMB_uc010juf.2_5'Flank|HLA-DMB_uc003ocj.2_Missense_Mutation_p.G67E|HLA-DMB_uc011dql.2_Missense_Mutation_p.G67E	p.G67E	NM_002118	NP_002109	WXS	Illumina GAIIx	Phase_I	P28068	DMB_HUMAN			1	463	-			67			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.200G>A	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409371	0.62399	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.38722	1.12;1.12;1.12	5.07	5.07	0.68467	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.237339	0.29178	N	0.012901	T	0.56202	0.1969	M	0.74258	2.255	0.43444	D	0.995629	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.56402	-0.7985	9	.	.	.	.	13.823	0.63333	0.0:1.0:0.0:0.0	.	67;67;76	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	E	67;67;67;99	ENSP00000398890:G67E;ENSP00000391010:G67E;ENSP00000412457:G99E	.	G	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014576	0.986000	0.35501	0.967000	0.41034	0.365000	0.29674	3.499000	0.53310	2.631000	0.89168	0.637000	0.83480	GGG		0.517	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		23	25	0	0	0	1	0	23	25					T	32906598	C	T	32906598	3	4	341	1	0	0	0	0	1	0	0	0	7199	623	22	2	611	2	HLA-DMB	6	32906598	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		32906598	138208469	4	5831											
COL19A1	1310	broad.mit.edu	37	6	70866046	70866046	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:70866046G>A	ENST00000322773.4	+	32	2209	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	COL19A1_ENST00000393344.1_Missense_Mutation_p.V325I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	703	Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCAAGCCAGTGTCCCAGGGCT	0.463																																						uc003pfc.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2107-2109)Gtc>Atc		Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.							91	80	84					6																	70866046		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866046G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2107G>A	6.37:g.70866046G>A	ENSP00000316030:p.Val703Ile		Somatic				COL19A1_uc010kam.2_Missense_Mutation_p.V599I	p.V703I	NM_001858	NP_001849	WXS	Illumina GAIIx	Phase_I	Q14993	COJA1_HUMAN			31	2224	+			703			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2107G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566750	0.28003	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91686	-2.89;-2.83	5.14	3.28	0.37604	.	0.190266	0.33235	N	0.005122	T	0.71134	0.3304	N	0.11724	0.165	0.35597	D	0.807571	B	0.31256	0.316	B	0.32022	0.139	T	0.65874	-0.6062	10	0.25106	T	0.35	.	7.7615	0.28955	0.2071:0.0:0.7929:0.0	.	703	Q14993	COJA1_HUMAN	I	703;325	ENSP00000316030:V703I;ENSP00000377013:V325I	ENSP00000316030:V703I	V	+	1	0	COL19A1	70922767	0.987000	0.35691	0.987000	0.45799	0.867000	0.49689	0.941000	0.29005	1.111000	0.41721	0.563000	0.77884	GTC		0.463	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			9	7	0	0	0	1	0	9	7					A	70866046	G	A	70866046	3	1	341	1	0	0	0	0	1	0	0	0	3676	1377	48	2	2229	2	COL19A1	6	70866046	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	37959448	70866046	100249021	5	5832											
MTO1	25821	broad.mit.edu	37	6	74171794	74171794	+	Splice_Site	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:74171794G>A	ENST00000370300.4	+	1	307	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000498286.1_Splice_Site_p.G73S|MTO1_ENST00000415954.2_Splice_Site_p.G73S|MTO1_ENST00000370305.1_Intron	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	73					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GGACACGATCGGTGAGGAGCG	0.657																																						uc010kav.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.e1+1		Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.							30	32	31					6																	74171794		2201	4299	6500	SO:0001630	splice_region_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74171794G>A	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.217+1G>A	6.37:g.74171794G>A			Somatic				MTO1_uc003pgy.4_Splice_Site_p.G73_splice|MTO1_uc003pgz.4_Splice_Site_p.G73_splice|MTO1_uc003pha.4_Splice_Site|MTO1_uc003phb.4_Intron|MTO1_uc003phc.1_5'Flank	p.G73_splice	NM_001123226	NP_001116698	WXS	Illumina GAIIx	Phase_I	Q9Y2Z2	MTO1_HUMAN			1	341	+			73					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Splice_Site	SNP	ENST00000370300.4	37	c.217_splice	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	37	6.033432	0.97221	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370300	T;T;T	0.78595	-1.19;-1.19;-1.19	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90154	0.6923	M	0.94021	3.485	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	0.92130	0.5711	10	0.87932	D	0	-19.0852	16.504	0.84264	0.0:0.0:1.0:0.0	.	73;73;73	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	S	73	ENSP00000402038:G73S;ENSP00000419561:G73S;ENSP00000359323:G73S	ENSP00000350506:G73S	G	+	1	0	MTO1	74228515	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.702000	0.74628	2.666000	0.90696	0.555000	0.69702	GGT		0.657	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123	Missense_Mutation	3	48	0	0	0	1	0	3	48					A	74171794	G	A	74171794	5	1	341	1	0	0	0	0	0	0	1	0	9953	1130	39	1	219	1	MTO1	6	74171794	Splice_Site	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	3305748	74171794	96943273	6	5833											
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr6:109757309T>C	ENST00000521072.2	-	2	809	c.229A>G	c.(229-231)Agg>Ggg	p.R77G	AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Missense_Mutation_p.R77G|PPIL6_ENST00000424445.2_Intron	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						uc010kdp.3																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)Agg>Ggg		Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.							112	120	117					6																	109757309		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309T>C		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229A>G	6.37:g.109757309T>C	ENSP00000427929:p.Arg77Gly		Somatic				PPIL6_uc003ptg.4_Missense_Mutation_p.R77G|PPIL6_uc021zdq.1_Non-coding_Transcript|Mir_584_uc021zdr.1_5'Flank	p.R77G	NM_001111298	NP_001104768	WXS	Illumina GAIIx	Phase_I	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	1	810	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.229A>G	CCDS5074.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679091	0.68042	.	.	ENSG00000185250	ENST00000440797;ENST00000521072	T;T	0.20738	2.05;2.05	5.48	-0.419	0.12340	.	0.265381	0.36628	N	0.002482	T	0.14527	0.0351	M	0.67953	2.075	0.80722	D	1	D;P	0.54047	0.964;0.93	P;B	0.44477	0.451;0.306	T	0.21724	-1.0237	10	0.87932	D	0	-11.9471	13.9445	0.64075	0.0:0.0:0.4992:0.5008	.	77;77	A9NIU9;Q8IXY8	.;PPIL6_HUMAN	G	77	ENSP00000392257:R77G;ENSP00000427929:R77G	ENSP00000392257:R77G	R	-	1	2	PPIL6	109864002	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	0.738000	0.26158	0.012000	0.14892	0.533000	0.62120	AGG		0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			3	97	0	0	0	1	0	3	97					C	109757309	T	C	109757309	3	2	341	1	0	0	0	0	1	0	0	0	12331	1608	56	3	816	3	PPIL6	6	109757309	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	35585515	109757309	61357758	7	5834											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		11	11	0	0	0	1	0	11	11					T	140453136	A	T	140453136	3	4	341	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A22Z-01A-11D-A17V-08		140453136	18685527	8	5835											
COL5A1	1289	broad.mit.edu	37	9	137690287	137690287	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr9:137690287C>T	ENST00000371817.3	+	37	3346	c.2932C>T	c.(2932-2934)Cct>Tct	p.P978S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	978	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)		CCCAGGACACCCTGGACAGAG	0.577																																						uc004cfe.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.(2932-2934)Cct>Tct		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							123	103	109					9																	137690287		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.chr9:137690287C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2932C>T	9.37:g.137690287C>T	ENSP00000360882:p.Pro978Ser		Somatic					p.P978S	NM_000093	NP_000084	WXS	Illumina GAIIx	Phase_I	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)	36	3314	+		Myeloproliferative disorder(178;0.0341)	978			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2932C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037229	0.75617	.	.	ENSG00000130635	ENST00000371817	T	0.35789	1.29	4.81	4.81	0.61882	.	0.000000	0.85682	U	0.000000	T	0.56572	0.1994	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.60525	-0.7246	10	0.72032	D	0.01	.	17.4735	0.87653	0.0:1.0:0.0:0.0	.	978	P20908	CO5A1_HUMAN	S	978	ENSP00000360882:P978S	ENSP00000360882:P978S	P	+	1	0	COL5A1	136830108	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.496000	0.81526	2.196000	0.70406	0.643000	0.83706	CCT		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	65	0	0	0	1	0	6	65					T	137690287	C	T	137690287	3	4	341	1	0	0	0	0	1	0	0	0	3696	623	22	2	3078	2	COL5A1	9	137690287	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		137690287	3523144	9	5836											
MMS19	64210	broad.mit.edu	37	10	99220481	99220481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:99220481delG	ENST00000438925.2	-	25	2775	c.2440delC	c.(2440-2442)catfs	p.H814fs	MMS19_ENST00000370782.2_Frame_Shift_Del_p.H814fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Frame_Shift_Del_p.H716fs|MMS19_ENST00000355839.6_Frame_Shift_Del_p.H771fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	814					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGAGAGGATGGTATCTGAGC	0.488								Direct reversal of damage																														uc001kns.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(2440-2442)catfs	Direct reversal of damage	Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae) (MMS19), mRNA.							82	76	78					10																	99220481		2203	4300	6503	SO:0001589	frameshift_variant	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	MMXD complex|cytoplasm|holo TFIIH complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99220481delG	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2440delC	10.37:g.99220481delG	ENSP00000412698:p.His814fs		Somatic				MMS19_uc001knq.3_Frame_Shift_Del_p.H77fs|MMS19_uc009xvs.3_Frame_Shift_Del_p.H399fs|MMS19_uc009xvt.3_Frame_Shift_Del_p.H558fs|MMS19_uc001knr.3_Frame_Shift_Del_p.H655fs|MMS19_uc010qox.2_Frame_Shift_Del_p.H792fs|MMS19_uc001knt.3_Frame_Shift_Del_p.H814fs|MMS19_uc001knu.1_Non-coding_Transcript	p.H814fs	NM_022362	NP_071757	WXS	Illumina GAIIx	Phase_I	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	24	2665	-		Colorectal(252;0.0846)	814					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Frame_Shift_Del	DEL	ENST00000438925.2	37	c.2440delC	CCDS7464.1																																																																																				0.488	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			2	4						2	4	---	---	---	---	-	99220481	G	-	99220481	7	5	341	1	0	1	0	1	0	0	0	0	9672	1348	47	0	680	0	MMS19	10	99220481	Frame_Shift_Del	DEL	G	TCGA-FE-A22Z-01A-11D-A17V-08		99220481	36314266	10	5837											
SH3PXD2A	9644	broad.mit.edu	37	10	105365619	105365619	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:105365619G>A	ENST00000369774.4	-	14	1640	c.1364C>T	c.(1363-1365)aCc>aTc	p.T455I	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.T427I|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.T322I|RP11-416N2.4_ENST00000609691.1_RNA|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.T290I			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	455	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCGGCAATGGTGTAGTACTC	0.537											OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kxj.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1279-1281)aCc>aTc		Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.							117	93	101					10																	105365619		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105365619G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1364C>T	10.37:g.105365619G>A	ENSP00000358789:p.Thr455Ile		Somatic	OREG0020500	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1388	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.T262I|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.T304I|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.T262I|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.T370I	p.T427I	NM_014631	NP_055446	WXS	Illumina GAIIx	Phase_I	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	12	1420	-		Colorectal(252;0.0815)|Breast(234;0.131)	455					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1280C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.411146	0.96072	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.77	5.77	0.91146	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.81497	2.545	0.80722	D	1	D;P;P;P	0.56746	0.977;0.787;0.774;0.943	P;P;P;P	0.62560	0.904;0.794;0.71;0.844	T	0.61613	-0.7027	10	0.72032	D	0.01	-50.3314	19.9983	0.97395	0.0:0.0:1.0:0.0	.	455;304;300;427	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	I	455;427;262;370;322;290	ENSP00000358789:T455I;ENSP00000348215:T427I;ENSP00000443663:T322I;ENSP00000441514:T290I	ENSP00000318135:T262I	T	-	2	0	SH3PXD2A	105355609	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.724000	0.93272	0.561000	0.74099	ACC		0.537	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		32	38	0	0	0	1	0	32	38					A	105365619	G	A	105365619	3	1	341	1	0	0	0	0	1	0	0	0	14256	1261	44	2	2045	2	SH3PXD2A	10	105365619	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	6145138	105365619	30169128	11	5838											
SORCS3	22986	broad.mit.edu	37	10	106974207	106974207	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:106974207C>T	ENST00000369701.3	+	18	2610	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	SORCS3_ENST00000369699.4_Missense_Mutation_p.R81W	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	795					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TAGGTATCGGCGGATTGTGTC	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			0		p.R794R(1)|p.R795R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2383-2385)Cgg>Tgg		Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.							124	103	110					10																	106974207		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974207C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2383C>T	10.37:g.106974207C>T	ENSP00000358715:p.Arg795Trp		Somatic				SORCS3_uc010qqz.1_Non-coding_Transcript	p.R795W	NM_014978	NP_055793	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	17	2610	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	795					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2383C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.015744	0.75161	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.69040	-0.37;-0.37	5.89	2.53	0.30540	VPS10 (1);PKD domain (1);	0.108661	0.64402	D	0.000007	T	0.79137	0.4395	M	0.75615	2.305	0.41621	D	0.988964	D	0.89917	1.0	D	0.67548	0.952	T	0.79001	-0.1981	9	.	.	.	.	14.6343	0.68678	0.7352:0.2648:0.0:0.0	.	795	Q9UPU3	SORC3_HUMAN	W	795;81	ENSP00000358715:R795W;ENSP00000358713:R81W	.	R	+	1	2	SORCS3	106964197	1.000000	0.71417	0.964000	0.40570	0.957000	0.61999	3.965000	0.56788	0.227000	0.20999	0.558000	0.71614	CGG		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		8	15	0	0	0	1	0	8	15					T	106974207	C	T	106974207	3	4	341	1	0	0	0	0	1	0	0	0	14932	759	27	1	2453	1	SORCS3	10	106974207	Missense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08	1608588	106974207	28560540	12	5839											
TACC2	10579	broad.mit.edu	37	10	123970987	123970987	+	Silent	SNP	T	T	C	rs377341447		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:123970987T>C	ENST00000369005.1	+	9	7387	c.7047T>C	c.(7045-7047)ccT>ccC	p.P2349P	TACC2_ENST00000369001.1_Silent_p.P53P|TACC2_ENST00000515603.1_Silent_p.P2304P|TACC2_ENST00000369000.1_Silent_p.P53P|TACC2_ENST00000515273.1_Silent_p.P2353P|TACC2_ENST00000358010.1_Silent_p.P495P|TACC2_ENST00000368999.1_Silent_p.P427P|TACC2_ENST00000360561.3_Silent_p.P427P|TACC2_ENST00000369004.3_Silent_p.P427P|TACC2_ENST00000334433.3_Silent_p.P2349P|TACC2_ENST00000513429.1_Silent_p.P495P|TACC2_ENST00000260733.3_Silent_p.P427P|TACC2_ENST00000453444.2_Silent_p.P2353P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2349	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATTTTAACCCTTTTTCTTCCA	0.468																																						uc001lfv.3																			0		p.N2348S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7045-7047)ccT>ccC		Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.		T	,,,	1,4405	2.1+/-5.4	0,1,2202	182	196	191		1281,1281,1485,7047	-3.4	1.0	10		191	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TACC2	NM_006997.2,NM_206860.1,NM_206861.1,NM_206862.2	,,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,,,	427/1027,427/997,495/1095,2349/2949	123970987	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970987T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7047T>C	10.37:g.123970987T>C			Somatic				TACC2_uc001lfw.3_Silent_p.P495P|TACC2_uc009xzx.3_Silent_p.P2304P|TACC2_uc010qtv.2_Silent_p.P2353P|TACC2_uc001lfx.3_Silent_p.P53P|TACC2_uc001lfy.3_Silent_p.P53P|TACC2_uc001lfz.3_Silent_p.P427P|TACC2_uc001lga.3_Silent_p.P427P|TACC2_uc009xzy.3_Silent_p.P427P|TACC2_uc001lgb.3_Silent_p.P384P|TACC2_uc010qtw.1_Silent_p.P444P	p.P2349P	NM_206862	NP_996744	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			8	7407	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2349			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.7047T>C	CCDS7626.1																																																																																				0.468	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	219	0	0	0	1	0	4	219					C	123970987	T	C	123970987	2	2	341	1	0	0	0	0	0	0	0	1	15499	1596	56	3		3	TACC2	10	123970987	Silent	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08	16996780	123970987	11563760	13	5840											
JAKMIP3	282973	broad.mit.edu	37	10	133930583	133930583	+	Silent	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr10:133930583C>T	ENST00000298622.4	+	2	276	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	46						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTTTCAGGTCAGCAAAGTGG	0.572																																						uc001lkx.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(136-138)gtC>gtT		Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.							36	39	38					10																	133930583		2152	4249	6401	SO:0001819	synonymous_variant	282973							g.chr10:133930583C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.138C>T	10.37:g.133930583C>T			Somatic					p.V46V	NM_001105521	NP_001098991	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	138	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.138C>T	CCDS44494.1																																																																																				0.572	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		9	32	0	0	0	1	0	9	32					T	133930583	C	T	133930583	2	4	341	1	0	0	0	0	0	0	0	1	7942	813	29	2		2	JAKMIP3	10	133930583	Silent	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08	9959596	133930583	1604164	14	5841											
CTSW	1521	broad.mit.edu	37	11	65651008	65651008	+	Silent	SNP	T	T	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:65651008T>C	ENST00000307886.3	+	10	1096	c.1050T>C	c.(1048-1050)aaT>aaC	p.N350N	FIBP_ENST00000426652.2_5'Flank|CTSW_ENST00000528419.1_3'UTR	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	350					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		GAGGGAGCAATACCTGTGGCA	0.622																																						uc001ogc.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(1048-1050)aaT>aaC		Homo sapiens cathepsin W (CTSW), mRNA.							164	160	161					11																	65651008		2201	4296	6497	SO:0001819	synonymous_variant	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65651008T>C	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.1050T>C	11.37:g.65651008T>C			Somatic					p.N350N	NM_001335	NP_001326	WXS	Illumina GAIIx	Phase_I	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	9	1092	+			350					Q86VT4	Silent	SNP	ENST00000307886.3	37	c.1050T>C	CCDS8117.1																																																																																				0.622	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		47	77	0	0	0	1	0	47	77					C	65651008	T	C	65651008	2	2	341	1	0	0	0	0	0	0	0	1	4042	1403	49	3		3	CTSW	11	65651008	Silent	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08		65651008	69355508	15	5842											
DCPS	28960	broad.mit.edu	37	11	126201357	126201357	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr11:126201357G>A	ENST00000263579.4	+	3	763	c.434G>A	c.(433-435)cGc>cAc	p.R145H	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	145					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)	p.R145H(1)		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)		AAGTACCTGCGCCAGGACCTC	0.557																																						uc001qdp.3																			1	Substitution - Missense(1)	p.R145H(2)	large_intestine(1)	endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(433-435)cGc>cAc		Homo sapiens decapping enzyme, scavenger (DCPS), mRNA.							129	122	124					11																	126201357		2201	4298	6499	SO:0001583	missense	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.chr11:126201357G>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.434G>A	11.37:g.126201357G>A	ENSP00000263579:p.Arg145His		Somatic					p.R145H	NM_014026	NP_054745	WXS	Illumina GAIIx	Phase_I	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	2	763	+	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)	145					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.434G>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164179	0.38217	.	.	ENSG00000110063	ENST00000263579	T	0.43688	0.94	5.84	3.99	0.46301	Scavenger mRNA decapping enzyme, N-terminal (1);	0.160576	0.64402	N	0.000016	T	0.25938	0.0632	N	0.17901	0.54	0.45403	D	0.998389	B	0.06786	0.001	B	0.04013	0.001	T	0.04870	-1.0921	10	0.44086	T	0.13	-14.2084	7.673	0.28470	0.3127:0.0:0.6873:0.0	.	145	Q96C86	DCPS_HUMAN	H	145	ENSP00000263579:R145H	ENSP00000263579:R145H	R	+	2	0	DCPS	125706567	0.970000	0.33590	1.000000	0.80357	0.987000	0.75469	1.377000	0.34317	0.831000	0.34780	0.655000	0.94253	CGC		0.557	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		4	96	0	0	0	1	0	4	96					A	126201357	G	A	126201357	3	1	341	1	0	0	0	0	1	0	0	0	4301	1087	38	1	444	1	DCPS	11	126201357	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	60550349	126201357	8805159	16	5843											
C13orf23	80209	broad.mit.edu	37	13	39587564	39587564	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr13:39587564T>C	ENST00000352251.3	-	11	2658	c.1825A>G	c.(1825-1827)Act>Gct	p.T609A	PROSER1_ENST00000350125.3_Missense_Mutation_p.T587A|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	609	Ser-rich.																GTGGGCTCAGTTTTGATCATA	0.532																																						uc001uwy.3																			0											c.(1825-1827)Act>Gct		Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.							156	165	162					13																	39587564		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587564T>C	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1825A>G	13.37:g.39587564T>C	ENSP00000332034:p.Thr609Ala		Somatic				PROSER1_uc001uwz.3_Missense_Mutation_p.T587A	p.T609A	NM_025138	NP_079414	WXS	Illumina GAIIx	Phase_I	Q86XN7	CM023_HUMAN			10	2698	-			609			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1825A>G	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543131	0.45280	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.50548	0.74;0.74	5.01	2.56	0.30785	.	.	.	.	.	T	0.30510	0.0767	L	0.29908	0.895	0.26349	N	0.977236	B;B	0.10296	0.003;0.003	B;B	0.13407	0.009;0.005	T	0.22138	-1.0225	8	.	.	.	-11.4859	4.3114	0.10972	0.1459:0.1602:0.0:0.6939	.	587;609	A6NJ97;Q86XN7	.;PRSR1_HUMAN	A	609;587	ENSP00000332034:T609A;ENSP00000339123:T587A	.	T	-	1	0	PROSER1	38485564	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	1.674000	0.37544	0.336000	0.23639	0.459000	0.35465	ACT		0.532	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		18	106	0	0	0	1	0	18	106					C	39587564	T	C	39587564	3	2	341	1	0	0	0	0	1	0	0	0	1721	1725	60	3	1021	3	C13orf23	13	39587564	Missense_Mutation	SNP	T	TCGA-FE-A22Z-01A-11D-A17V-08		39587564	75582314	17	5844											
RAI1	10743	broad.mit.edu	37	17	17696275	17696275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:17696275C>T	ENST00000353383.1	+	3	482	c.13C>T	c.(13-15)Cga>Tga	p.R5*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.R5*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	5					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)		GCAGTCTTTTCGAGAAAGGTG	0.562																																						uc002grm.3																			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.(13-15)Cga>Tga		Homo sapiens retinoic acid induced 1 (RAI1), mRNA.							41	43	43					17																	17696275		2203	4300	6503	SO:0001587	stop_gained	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696275C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.13C>T	17.37:g.17696275C>T	ENSP00000323074:p.Arg5*		Somatic				RAI1_uc002grn.1_Nonsense_Mutation_p.R5*	p.R5*	NM_030665	NP_109590	WXS	Illumina GAIIx	Phase_I	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	2	482	+			5					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Nonsense_Mutation	SNP	ENST00000353383.1	37	c.13C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	39	7.537132	0.98345	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	.	.	.	4.45	3.45	0.39498	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0824	0.59121	0.1623:0.8377:0.0:0.0	.	.	.	.	X	5	.	ENSP00000261641:R5X	R	+	1	2	RAI1	17637000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.696000	0.47052	0.811000	0.34303	0.462000	0.41574	CGA		0.562	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		17	10	0	0	0	1	0	17	10					T	17696275	C	T	17696275	4	4	341	1	0	0	0	0	0	1	0	0	13007	876	31	1	15	1	RAI1	17	17696275	Nonsense_Mutation	SNP	C	TCGA-FE-A22Z-01A-11D-A17V-08		17696275	63498935	18	5845											
HDAC5	10014	broad.mit.edu	37	17	42170141	42170141	+	Silent	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr17:42170141G>A	ENST00000393622.2	-	7	1006	c.675C>T	c.(673-675)tcC>tcT	p.S225S	HDAC5_ENST00000336057.5_Silent_p.S225S|HDAC5_ENST00000225983.6_Silent_p.S226S|HDAC5_ENST00000586802.1_Silent_p.S225S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	225					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)		TCTGGGGAGGGGAACTCTGGT	0.642																																						uc002iff.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(676-678)tcC>tcT		Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.							15	19	17					17																	42170141		2106	4192	6298	SO:0001819	synonymous_variant	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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42170141G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.675C>T	17.37:g.42170141G>A			Somatic				HDAC5_uc002ifd.1_Silent_p.S225S|HDAC5_uc002ife.1_Silent_p.S225S|HDAC5_uc010czp.1_Silent_p.S225S|HDAC5_uc002ifh.2_Silent_p.S225S	p.S226S	NM_001015053	NP_001015053	WXS	Illumina GAIIx	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	6	1010	-		Breast(137;0.00637)|Prostate(33;0.0313)	225					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.678C>T	CCDS45696.1																																																																																				0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		11	20	0	0	0	1	0	11	20					A	42170141	G	A	42170141	2	1	341	1	0	0	0	0	0	0	0	1	7010	1219	43	2		2	HDAC5	17	42170141	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	24473866	42170141	39025069	19	5846											
MIB1	57534	broad.mit.edu	37	18	19378075	19378075	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr18:19378075A>T	ENST00000261537.6	+	8	1387	c.1123A>T	c.(1123-1125)Att>Ttt	p.I375F	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	375					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGTACAACAGATTTATTCAGA	0.378																																						uc002ktq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1123-1125)Att>Ttt		Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.							130	129	129					18																	19378075		2203	4299	6502	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19378075A>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1123A>T	18.37:g.19378075A>T	ENSP00000261537:p.Ile375Phe		Somatic				MIB1_uc002ktp.3_Missense_Mutation_p.I14F	p.I375F	NM_020774	NP_065825	WXS	Illumina GAIIx	Phase_I	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		7	1123	+			375					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1123A>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900618	0.72754	.	.	ENSG00000101752	ENST00000261537	T	0.41400	1.0	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.82823	2.61	0.80722	D	1	P	0.40431	0.717	P	0.49047	0.599	T	0.66085	-0.6011	10	0.72032	D	0.01	-16.5214	15.3585	0.74448	1.0:0.0:0.0:0.0	.	375	Q86YT6	MIB1_HUMAN	F	375	ENSP00000261537:I375F	ENSP00000261537:I375F	I	+	1	0	MIB1	17632073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.271000	0.95698	2.089000	0.63090	0.491000	0.48974	ATT		0.378	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		10	33	0	0	0	1	0	10	33					T	19378075	A	T	19378075	3	4	341	1	0	0	0	0	1	0	0	0	9566	333	12	5	1153	5	MIB1	18	19378075	Missense_Mutation	SNP	A	TCGA-FE-A22Z-01A-11D-A17V-08		19378075	58699173	20	5847											
CTSA	5476	broad.mit.edu	37	20	44520006	44520007	+	5'UTR	INS	-	-	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chr20:44520006_44520007insT	ENST00000191018.5	+	0	27_28				RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000354880.5_Frame_Shift_Ins_p.G15fs|NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_Frame_Shift_Ins_p.G15fs			P10619	PPGB_HUMAN	cathepsin A						glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGCAAGGACGCGGGGGAGCAGA	0.698																																						uc002xqh.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(40-45)cgcgggfs		Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.																																				SO:0001623	5_prime_UTR_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520006_44520007insT	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000191018.5:c.-58->T	20.37:g.44520006_44520007insT			Somatic				NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_5'UTR|CTSA_uc010zxi.2_Frame_Shift_Ins_p.R14fs|CTSA_uc002xqi.3_Non-coding_Transcript	p.R14fs	NM_000308	NP_001121167	WXS	Illumina GAIIx	Phase_I	P10619	PPGB_HUMAN			0	416_417	+		Myeloproliferative disorder(115;0.0122)	0					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Frame_Shift_Ins	INS	ENST00000191018.5	37	c.42_43insT	CCDS46609.1																																																																																				0.698	CTSA-004	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080500.1	NM_000308		2	4						2	4	---	---	---	---	T	44520007	-	T	44520006	6	5	341	0	1	1	1	0	0	0	0	0	4029	755	27	0		0	CTSA	20	44520006	5'UTR	INS	-	TCGA-FE-A22Z-01A-11D-A17V-08		44520006	18505514	21	5848											
PPEF1	5475	broad.mit.edu	37	X	18842187	18842187	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:18842187G>A	ENST00000361511.4	+	17	2142	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K|PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	550					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)					TATCCGCATTGAAAAACCTGT	0.463																																						uc004cyq.3																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1648-1650)Gaa>Aaa		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							104	89	94					X																	18842187		2203	4300	6503	SO:0001583	missense	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:18842187G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1648G>A	X.37:g.18842187G>A	ENSP00000354871:p.Glu550Lys		Somatic				PPEF1_uc004cyp.3_Missense_Mutation_p.E522K|PPEF1_uc004cyr.3_Missense_Mutation_p.E488K|PPEF1_uc004cys.3_Missense_Mutation_p.E550K|PPEF1_uc011mja.2_Missense_Mutation_p.E485K|PPEF1_uc011mjb.2_Missense_Mutation_p.E494K	p.E550K	NM_006240	NP_006231	WXS	Illumina GAIIx	Phase_I	O14829	PPE1_HUMAN			16	2129	+	Hepatocellular(33;0.183)		550					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1648G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988217	0.18966	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.2	3.33	0.38152	.	1.681740	0.02951	N	0.141693	T	0.29158	0.0725	L	0.33245	0.995	0.09310	N	1	B;B;P	0.38078	0.386;0.323;0.617	B;B;B	0.30855	0.085;0.079;0.121	T	0.20371	-1.0277	10	0.12430	T	0.62	-5.4647	6.7829	0.23657	0.1951:0.4337:0.3712:0.0	.	488;550;522	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	550;497;488;485	ENSP00000354871:E550K;ENSP00000352806:E497K;ENSP00000341892:E488K;ENSP00000441289:E485K	ENSP00000341892:E488K	E	+	1	0	PPEF1	18752108	0.005000	0.15991	0.090000	0.20809	0.110000	0.19582	-0.065000	0.11617	1.105000	0.41606	0.600000	0.82982	GAA		0.463	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		13	27	0	0	0	1	0	13	27					A	18842187	G	A	18842187	3	1	341	1	0	0	0	0	1	0	0	0	12307	1291	45	2	1702	2	PPEF1	23	18842187	Missense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08		18842187	136428373	22	5849											
USP9X	8239	broad.mit.edu	37	X	40988337	40988337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:40988337G>T	ENST00000324545.8	+	3	814	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E61*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	61					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCACAGCTTGAAGATGAGGA	0.458																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.3																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(181-183)Gaa>Taa		Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.							106	97	100					X																	40988337		2203	4300	6503	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40988337G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.181G>T	X.37:g.40988337G>T	ENSP00000316357:p.Glu61*		Somatic				USP9X_uc004dfc.3_Nonsense_Mutation_p.E61*	p.E61*	NM_001039590	NP_001034679	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			2	814	+			61					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.181G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	38	6.730175	0.97796	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.195	0.89818	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000316357:E61X	E	+	1	0	USP9X	40873281	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.234000	0.73211	0.600000	0.82982	GAA		0.458	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	15	0	0	0	1	0	14	15					T	40988337	G	T	40988337	4	4	341	1	0	0	0	0	0	1	0	0	17087	1291	45	4	187	4	USP9X	23	40988337	Nonsense_Mutation	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	22146150	40988337	114282223	23	5850											
CENPI	2491	broad.mit.edu	37	X	100383791	100383791	+	Silent	SNP	G	G	A			TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:100383791G>A	ENST00000372927.1	+	11	1438	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	CENPI_ENST00000218507.5_Silent_p.R387R|CENPI_ENST00000423383.1_Silent_p.R387R|CENPI_ENST00000372926.1_Silent_p.R387R	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	387					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						TCTTGCTGAGGTTTTATTACT	0.413																																						uc004egx.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1159-1161)agG>agA		Homo sapiens centromere protein I (CENPI), mRNA.							185	157	166					X																	100383791		2203	4300	6503	SO:0001819	synonymous_variant	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100383791G>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1161G>A	X.37:g.100383791G>A			Somatic				CENPI_uc011mrg.2_Silent_p.R387R|CENPI_uc004egy.3_Silent_p.R387R	p.R387R	NM_006733	NP_006724	WXS	Illumina GAIIx	Phase_I	Q92674	CENPI_HUMAN			10	1431	+			387					Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	c.1161G>A	CCDS14479.1																																																																																				0.413	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		25	43	0	0	0	1	0	25	43					A	100383791	G	A	100383791	2	1	341	1	0	0	0	0	0	0	0	1	3233	1252	44	2		2	CENPI	23	100383791	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	59395454	100383791	54886769	24	5851											
F8	2157	broad.mit.edu	37	X	154157148	154157148	+	Silent	SNP	G	G	A	rs147629393		TCGA-FE-A22Z-01A-11D-A17V-08	TCGA-FE-A22Z-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec59b115-b96a-42ff-9649-a9a518456c2b	c79d1a81-e40f-439c-ace4-aaaef0237060	g.chrX:154157148G>A	ENST00000360256.4	-	14	5117	c.4917C>T	c.(4915-4917)ccC>ccT	p.P1639P		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1639	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.P1639P(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTCTATTTCGGGCTTATTTT	0.423																																						uc004fmt.3																			2	Substitution - coding silent(2)	p.P1639P(3)	lung(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4915-4917)ccC>ccT		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	G		2,3833		0,2,1630,571	135	123	127		4917	1.1	0.0	X	dbSNP_134	127	0,6728		0,0,2428,1872	no	coding-synonymous	F8	NM_000132.3		0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189		1639/2352	154157148	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157148G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4917C>T	X.37:g.154157148G>A			Somatic					p.P1639P	NM_000132	NP_000123	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			13	5088	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)		1639			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.4917C>T	CCDS35457.1																																																																																				0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			25	77	0	0	0	1	0	25	77					A	154157148	G	A	154157148	2	1	341	1	0	0	0	0	0	0	0	1	5350	1103	39	1		1	F8	23	154157148	Silent	SNP	G	TCGA-FE-A22Z-01A-11D-A17V-08	53773357	154157148	1113412	25	5852											
HIST1H1E	3008	broad.mit.edu	37	6	26156692	26156692	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr6:26156692G>A	ENST00000304218.3	+	1	134	c.74G>A	c.(73-75)cGc>cAc	p.R25H	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R25P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647																																						uc003ngq.3																			1	Substitution - Missense(1)	p.R25P(2)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(73-75)cGc>cAc		Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.							32	41	38					6																	26156692		2185	4281	6466	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156692G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.74G>A	6.37:g.26156692G>A	ENSP00000307705:p.Arg25His		Somatic				HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	p.R25H	NM_005321	NP_005312	WXS	Illumina GAIIx	Phase_I	P10412	H14_HUMAN			0	134	+			25					Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.74G>A	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	11.37	1.618776	0.28801	.	.	ENSG00000168298	ENST00000304218	T	0.09163	3.01	5.49	4.39	0.52855	.	0.297668	0.33980	N	0.004377	T	0.01870	0.0059	N	0.08118	0	0.32768	N	0.504197	B	0.09022	0.002	B	0.01281	0.0	T	0.36407	-0.9749	10	0.66056	D	0.02	-2.4329	4.5977	0.12338	0.2792:0.0:0.7208:0.0	.	25	P10412	H14_HUMAN	H	25	ENSP00000307705:R25H	ENSP00000307705:R25H	R	+	2	0	HIST1H1E	26264671	0.008000	0.16893	1.000000	0.80357	0.089000	0.18198	1.543000	0.36147	2.727000	0.93392	0.655000	0.94253	CGC		0.647	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		4	104	0	0	0	1	0	4	104					A	26156692	G	A	26156692	3	1	342	1	0	0	0	0	1	0	0	0	7126	1087	38	1	76	1	HIST1H1E	6	26156692	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		26156692	144958375	1	5853											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	24	0	0	0	1	0	15	24					T	140453136	A	T	140453136	3	4	342	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A230-01A-11D-A14W-08		140453136	18685527	2	5854											
NRG1	3084	broad.mit.edu	37	8	32505799	32505799	+	Intron	SNP	C	C	T	rs199722954		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr8:32505799C>T	ENST00000405005.3	+	5	502				NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.A188V			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCGTCCACTGCGCCATCCTTC	0.507													C|||	1	0.000199681	0	0	5008	,	,		19493	0		0.001	False		,,,				2504	0					uc003xiy.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(562-564)gCg>gTg		Homo sapiens neuregulin 1 (NRG1), transcript variant SMDF, mRNA.							182	146	158					8																	32505799		2203	4300	6503	SO:0001627	intron_variant	3084				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505799C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31396C>T	8.37:g.32505799C>T			Somatic				NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc003xir.3_Intron|NRG1_uc010lvl.3_Intron|NRG1_uc010lvm.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Intron|NRG1_uc003xiv.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Intron	p.A188V	NM_013959	NP_039253	WXS	Illumina GAIIx	Phase_I	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	0	1549	+		Breast(100;0.203)	445			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.563C>T	CCDS6085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.547	1.114813	0.20795	.	.	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	5.59	3.77	0.43336	.	.	.	.	.	T	0.28267	0.0698	N	0.24115	0.695	0.80722	D	1	B;P	0.49253	0.014;0.921	B;B	0.35073	0.006;0.195	T	0.02829	-1.1105	8	0.33940	T	0.23	.	11.0293	0.47763	0.0:0.8533:0.0:0.1467	.	188;188	Q53F54;Q02297-10	.;.	V	188;148	.	ENSP00000433289:A188V	A	+	2	0	NRG1	32625341	0.574000	0.26684	0.461000	0.27105	0.348000	0.29142	1.452000	0.35156	0.802000	0.34089	0.655000	0.94253	GCG		0.507	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			17	38	0	0	0	1	0	17	38					T	32505799	C	T	32505799	1	4	342	0	1	0	0	0	0	0	0	0	10647	768	27	1		1	NRG1	8	32505799	Intron	SNP	C	TCGA-FE-A230-01A-11D-A14W-08		32505799	113858223	3	5855											
CCDC41	51134	broad.mit.edu	37	12	94794732	94794732	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr12:94794732T>C	ENST00000397809.5	-	6	992	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.Y115C|CCDC41_ENST00000547575.1_Missense_Mutation_p.Y148C|CCDC41_ENST00000339839.5_Missense_Mutation_p.Y148C	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		140					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AAGCTTATTATATACAGCTCT	0.303																																						uc001tdd.3																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(442-444)tAt>tGt		Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.							102	98	99					12																	94794732		1801	4061	5862	SO:0001583	missense	51134							g.chr12:94794732T>C																												ENST00000397809.5:c.443A>G	12.37:g.94794732T>C	ENSP00000380911:p.Tyr148Cys		Somatic				CCDC41_uc001tde.3_Missense_Mutation_p.Y148C|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_Missense_Mutation_p.Y148C	p.Y148C	NM_016122	NP_057206	WXS	Illumina GAIIx	Phase_I	Q9Y592	CCD41_HUMAN			5	1029	-			140					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.443A>G	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155413	0.78114	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.65549	0.54;0.54;0.54;-0.16	5.85	5.85	0.93711	.	.	.	.	.	T	0.77491	0.4138	M	0.65498	2.005	0.51233	D	0.999917	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77310	-0.2635	9	0.44086	T	0.13	-9.0848	15.9025	0.79392	0.0:0.0:0.0:1.0	.	148;115;140	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	C	148;148;115;148	ENSP00000344655:Y148C;ENSP00000380911:Y148C;ENSP00000380909:Y115C;ENSP00000448913:Y148C	ENSP00000344655:Y148C	Y	-	2	0	CCDC41	93318863	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.553000	0.73918	2.238000	0.73509	0.528000	0.53228	TAT		0.303	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			22	46	0	0	0	1	0	22	46					C	94794732	T	C	94794732	3	2	342	1	0	0	0	0	1	0	0	0	2813	1406	49	3	1710	3	CCDC41	12	94794732	Missense_Mutation	SNP	T	TCGA-FE-A230-01A-11D-A14W-08		94794732	39057163	4	5856											
WDR83	84292	broad.mit.edu	37	19	12780673	12780673	+	Silent	SNP	C	C	T			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr19:12780673C>T	ENST00000418543.3	+	3	418	c.69C>T	c.(67-69)tgC>tgT	p.C23C	WDR83OS_ENST00000222190.5_5'Flank|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83_ENST00000242796.4_Silent_p.C23C|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	23					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						CGCTGGACTGCGGGCAGGGGG	0.617																																						uc002mue.4																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(67-69)tgC>tgT		Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.							49	60	56					19																	12780673		2202	4299	6501	SO:0001819	synonymous_variant	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780673C>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.69C>T	19.37:g.12780673C>T			Somatic				WDR83_uc002muc.3_Non-coding_Transcript|WDR83OS_uc002mud.2_5'Flank|WDR83_uc010dyw.3_Silent_p.C23C	p.C23C	NM_001099737	NP_115708	WXS	Illumina GAIIx	Phase_I	Q9BRX9	WDR83_HUMAN			2	414	+			23					B2RAF1|Q53FT6	Silent	SNP	ENST00000418543.3	37	c.69C>T	CCDS12275.1																																																																																				0.617	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		5	139	0	0	0	1	0	5	139					T	12780673	C	T	12780673	2	4	342	1	0	0	0	0	0	0	0	1	17329	776	27	1		1	WDR83	19	12780673	Silent	SNP	C	TCGA-FE-A230-01A-11D-A14W-08		12780673	46348310	5	5857											
NLRP11	204801	broad.mit.edu	37	19	56320297	56320297	+	Missense_Mutation	SNP	G	G	A	rs376879259		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr19:56320297G>A	ENST00000589093.1	-	3	1772	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	NLRP11_ENST00000360133.3_Missense_Mutation_p.T560M|NLRP11_ENST00000443188.1_Missense_Mutation_p.T560M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T560M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T461M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	560							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)		ATCCACAATCGTCTTCACAAA	0.428																																						uc010ygf.2																			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.(1678-1680)aCg>aTg		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.		G	MET/THR	0,4406		0,0,2203	136	123	128		1679	-4.4	0.0	19		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	560/1034	56320297	1,13005	2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320297G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1679C>T	19.37:g.56320297G>A	ENSP00000466285:p.Thr560Met		Somatic				NLRP11_uc002qlz.3_Missense_Mutation_p.T461M|NLRP11_uc002qmb.3_Missense_Mutation_p.T461M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	p.T560M	NM_145007	NP_659444	WXS	Illumina GAIIx	Phase_I	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	2390	-		Colorectal(82;0.0002)	560					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1679C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	g	1.826	-0.471125	0.04445	0.0	1.16E-4	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53206	0.63;0.63	2.2	-4.4	0.03600	.	.	.	.	.	T	0.15522	0.0374	N	0.02011	-0.69	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.09596	-1.0667	9	0.45353	T	0.12	.	0.8415	0.01151	0.1632:0.2125:0.3341:0.2903	.	560;560	P59045;P59045-2	NAL11_HUMAN;.	M	560	ENSP00000409898:T560M;ENSP00000353251:T560M	ENSP00000353251:T560M	T	-	2	0	NLRP11	61012109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.127000	0.03251	-1.576000	0.01652	-3.108000	0.00062	ACG		0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		21	112	0	0	0	1	0	21	112					A	56320297	G	A	56320297	3	1	342	1	0	0	0	0	1	0	0	0	10473	1145	40	1	1454	1	NLRP11	19	56320297	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08	43539624	56320297	2808686	6	5858											
RASSF2	9770	broad.mit.edu	37	20	4776561	4776561	+	Missense_Mutation	SNP	G	G	A	rs201330263		TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr20:4776561G>A	ENST00000379400.3	-	5	382	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Missense_Mutation_p.R63C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	63					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ATGGGCCGGCGCAGGCCCCAG	0.592													G|||	1	0.000199681	0	0	5008	,	,		16476	0		0.001	False		,,,				2504	0				Melanoma(158;1891 3343 50738)	uc002wld.3																			0		p.R63H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(187-189)Cgc>Tgc		Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.							78	77	78					20																	4776561		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776561G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.187C>T	20.37:g.4776561G>A	ENSP00000368710:p.Arg63Cys		Somatic				RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Missense_Mutation_p.R63C	p.R63C	NM_170774	NP_739580	WXS	Illumina GAIIx	Phase_I	P50749	RASF2_HUMAN			3	241	-			63					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.187C>T	CCDS13083.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.6	4.011201	0.75046	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.30981	1.51;1.51	5.13	3.2	0.36748	.	0.162098	0.53938	N	0.000041	T	0.50616	0.1626	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.51340	-0.8718	10	0.87932	D	0	.	5.5951	0.17323	0.165:0.0:0.6771:0.1579	.	63	P50749	RASF2_HUMAN	C	63	ENSP00000368710:R63C;ENSP00000368684:R63C	ENSP00000368684:R63C	R	-	1	0	RASSF2	4724561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.337000	0.59310	0.750000	0.32877	0.563000	0.77884	CGC		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		4	69	0	0	0	1	0	4	69					A	4776561	G	A	4776561	3	1	342	1	0	0	0	0	1	0	0	0	13086	1087	38	1	825	1	RASSF2	20	4776561	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		4776561	58248959	7	5859											
KRTAP10-4	386672	broad.mit.edu	37	21	45994590	45994590	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A230-01A-11D-A14W-08	TCGA-FE-A230-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b0a900-aaa3-4043-b959-8c31d3afa77f	0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8	g.chr21:45994590G>A	ENST00000400374.3	+	1	985	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	319	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GGGCTGCTGCGTGCCCGTCTG	0.622																																						uc002zfk.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(955-957)Gtg>Atg		Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.							118	127	124					21																	45994590		2203	4300	6503	SO:0001583	missense	386672					keratin filament		g.chr21:45994590G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.955G>A	21.37:g.45994590G>A	ENSP00000383225:p.Val319Met		Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V319M	NM_198687	NP_941960	WXS	Illumina GAIIx	Phase_I	P60372	KR104_HUMAN			0	985	+			319			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.955G>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	g	2.821	-0.244806	0.05906	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01438	4.89	3.89	-1.63	0.08345	.	.	.	.	.	T	0.02304	0.0071	M	0.88031	2.925	0.09310	N	1	P	0.39404	0.672	B	0.31495	0.131	T	0.28713	-1.0035	9	0.48119	T	0.1	.	4.5319	0.12010	0.4411:0.2747:0.2843:0.0	.	319	P60372	KR104_HUMAN	M	319;115	ENSP00000383225:V319M	ENSP00000333987:V115M	V	+	1	0	KRTAP10-4	44819018	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.393000	0.07305	-0.023000	0.13963	-0.199000	0.12753	GTG		0.622	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		7	214	0	0	0	1	0	7	214					A	45994590	G	A	45994590	3	1	342	1	0	0	0	0	1	0	0	0	8511	1145	40	1	957	1	KRTAP10-4	21	45994590	Missense_Mutation	SNP	G	TCGA-FE-A230-01A-11D-A14W-08		45994590	2135305	8	5860											
RASAL2	9462	broad.mit.edu	37	1	178269183	178269183	+	Silent	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:178269183G>A	ENST00000367649.3	+	3	739	c.387G>A	c.(385-387)ctG>ctA	p.L129L	RASAL2_ENST00000448150.3_Silent_p.L111L|RASAL2_ENST00000465723.1_3'UTR			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				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)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGCGATGCCTGAGGAGAACTG	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001glq.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(385-387)ctG>ctA		Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.							79	83	82					1																	178269183		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178269183G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.387G>A	1.37:g.178269183G>A			Somatic	OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1945	RASAL2_uc009wxb.2_Silent_p.L129L	p.L129L	NM_170692	NP_733793	WXS	Illumina GAIIx	Phase_I	Q9UJF2	NGAP_HUMAN			2	1151	+			0			PH.		F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000367649.3	37	c.387G>A	CCDS1321.2																																																																																				0.473	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		4	84	0	0	0	1	0	4	84					A	178269183	G	A	178269183	2	1	343	1	0	0	0	0	0	0	0	1	13064	1277	45	2		2	RASAL2	1	178269183	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		178269183	70981438	1	5861											
ABCG8	64241	broad.mit.edu	37	2	44104811	44104811	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr2:44104811C>A	ENST00000272286.2	+	12	1958	c.1868C>A	c.(1867-1869)gCg>gAg	p.A623E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	623	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCACCATCGCGGTCTCAGGA	0.498											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rtq.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1867-1869)gCg>gAg		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.							95	99	98					2																	44104811		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44104811C>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1868C>A	2.37:g.44104811C>A	ENSP00000272286:p.Ala623Glu		Somatic	OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	ABCG8_uc010yoa.2_Missense_Mutation_p.A622E	p.A623E	NM_022437	NP_071882	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			11	1958	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	623			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1868C>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	0.071	-1.202609	0.01581	.	.	ENSG00000143921	ENST00000272286	T	0.17370	2.28	5.29	1.43	0.22495	.	1.567770	0.03133	N	0.165405	T	0.06554	0.0168	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29731	-1.0002	10	0.02654	T	1	.	3.7511	0.08566	0.1292:0.509:0.2246:0.1371	.	622;623	Q9H221-2;Q9H221	.;ABCG8_HUMAN	E	623	ENSP00000272286:A623E	ENSP00000272286:A623E	A	+	2	0	ABCG8	43958315	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.677000	0.25262	-0.012000	0.14223	-0.218000	0.12543	GCG		0.498	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		40	71	0	0	0	1	0	40	71					A	44104811	C	A	44104811	3	1	343	1	0	0	0	0	1	0	0	0	72	768	27	4	1914	4	ABCG8	2	44104811	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		44104811	199094562	2	5862											
CTBP1	1487	broad.mit.edu	37	4	1206720	1206720	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr4:1206720G>A	ENST00000290921.6	-	8	1301	c.1120C>T	c.(1120-1122)Ctc>Ttc	p.L374F	CTBP1_ENST00000382952.3_Missense_Mutation_p.L363F	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	374					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCCCATTGAGCTCAGGGTGC	0.662																																						uc003gcw.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(1120-1122)Ctc>Ttc		Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.							63	61	62					4																	1206720		2201	4300	6501	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206720G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1120C>T	4.37:g.1206720G>A	ENSP00000290921:p.Leu374Phe		Somatic				AX747592_uc003gcs.1_Intron|CTBP1_uc003gcu.1_Missense_Mutation_p.L363F|CTBP1_uc003gcv.1_Missense_Mutation_p.L374F	p.L374F	NM_001328	NP_001319	WXS	Illumina GAIIx	Phase_I	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	7	1285	-			374					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.1120C>T	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.754616|4.754616	0.89843|0.89843	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000503594;ENST00000504092|ENST00000382952;ENST00000290921	.|D;D	.|0.84442	.|-1.84;-1.85	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91092|0.91092	0.7196|0.7196	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.69078	.|0.997;0.957;0.923	.|D;P;P	.|0.75484	.|0.986;0.695;0.695	D|D	0.91363|0.91363	0.5113|0.5113	5|10	.|0.46703	.|T	.|0.11	-36.2252|-36.2252	16.8689|16.8689	0.86036|0.86036	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|160;374;363	.|Q6IP95;Q13363;Q7Z2Q5	.|.;CTBP1_HUMAN;.	V|F	116;220|363;374	.|ENSP00000372411:L363F;ENSP00000290921:L374F	.|ENSP00000290921:L374F	A|L	-|-	2|1	0|0	CTBP1|CTBP1	1196720|1196720	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.955000|0.955000	0.61496|0.61496	8.892000|8.892000	0.92491|0.92491	1.965000|1.965000	0.57142|0.57142	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.662	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		3	63	0	0	0	1	0	3	63					A	1206720	G	A	1206720	3	1	343	1	0	0	0	0	1	0	0	0	3997	971	34	2	210	2	CTBP1	4	1206720	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		1206720	189947556	3	5863											
ADAMTS2	9509	broad.mit.edu	37	5	178555009	178555009	+	Silent	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr5:178555009G>A	ENST00000251582.7	-	17	2669	c.2568C>T	c.(2566-2568)taC>taT	p.Y856Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	856	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y856Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCCCACTCGTAGACCACAG	0.582																																						uc003mjw.3																			1	Substitution - coding silent(1)	p.Y856Y(2)	pancreas(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2566-2568)taC>taT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							194	160	172					5																	178555009		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555009G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2568C>T	5.37:g.178555009G>A			Somatic					p.Y856Y	NM_014244	NP_055059	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2670	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	856			TSP type-1 2.			Silent	SNP	ENST00000251582.7	37	c.2568C>T	CCDS4444.1																																																																																				0.582	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		60	63	0	0	0	1	0	60	63					A	178555009	G	A	178555009	2	1	343	1	0	0	0	0	0	0	0	1	265	1140	40	1		1	ADAMTS2	5	178555009	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		178555009	2360251	4	5864											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	35	0	0	0	1	0	27	35					T	140453136	A	T	140453136	3	4	343	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		140453136	18685527	5	5865											
TRPA1	8989	broad.mit.edu	37	8	72946042	72946042	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr8:72946042A>G	ENST00000262209.4	-	23	2912	c.2705T>C	c.(2704-2706)tTg>tCg	p.L902S	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'Flank	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	902					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TATAGAAAGCAATGGAGAGCT	0.393																																						uc003xza.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2704-2706)tTg>tCg		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						83	78	80					8																	72946042		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72946042A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2705T>C	8.37:g.72946042A>G	ENSP00000262209:p.Leu902Ser		Somatic				LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	p.L902S	NM_007332	NP_015628	WXS	Illumina GAIIx	Phase_I	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		22	2880	-			902					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2705T>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	0.173	-1.069694	0.01918	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.31510	1.49;1.49	5.26	0.258	0.15578	Ion transport (1);	1.195530	0.05703	N	0.594553	T	0.20981	0.0505	L	0.37750	1.13	0.09310	N	1	B	0.32717	0.381	B	0.35240	0.198	T	0.25641	-1.0126	10	0.21540	T	0.41	-0.6474	0.6426	0.00813	0.4424:0.1226:0.2016:0.2333	.	902	O75762	TRPA1_HUMAN	S	754;902	ENSP00000428151:L754S;ENSP00000262209:L902S	ENSP00000262209:L902S	L	-	2	0	TRPA1	73108596	0.002000	0.14202	0.040000	0.18447	0.115000	0.19883	1.311000	0.33562	0.305000	0.22832	-0.435000	0.05868	TTG		0.393	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		14	26	0	0	0	1	0	14	26					G	72946042	A	G	72946042	3	3	343	1	0	0	0	0	1	0	0	0	16574	131	5	3	674	3	TRPA1	8	72946042	Missense_Mutation	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		72946042	73417980	6	5866											
RRP8	23378	broad.mit.edu	37	11	6622217	6622217	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:6622217G>A	ENST00000254605.6	-	4	1103	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ILK_ENST00000528995.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	329			P -> S (in dbSNP:rs17834692).		cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCAATGCACAGGGTTCCGGAT	0.547																																						uc001med.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(985-987)cCt>cTt		Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.							104	103	103					11																	6622217		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding	g.chr11:6622217G>A	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.986C>T	11.37:g.6622217G>A	ENSP00000254605:p.Pro329Leu		Somatic				ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	p.P329L	NM_015324	NP_056139	WXS	Illumina GAIIx	Phase_I	O43159	RRP8_HUMAN			3	1134	-			329		P -> S (in dbSNP:rs17834692).			Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.986C>T	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525205	0.44969	.	.	ENSG00000132275	ENST00000254605	T	0.40476	1.03	5.41	5.41	0.78517	.	0.387563	0.27500	N	0.019093	T	0.24967	0.0606	N	0.05031	-0.125	0.80722	D	1	B	0.31879	0.344	B	0.32342	0.144	T	0.13764	-1.0497	10	0.52906	T	0.07	0.8153	13.8153	0.63287	0.0:0.0:0.8371:0.1629	.	329	O43159	RRP8_HUMAN	L	329	ENSP00000254605:P329L	ENSP00000254605:P329L	P	-	2	0	RRP8	6578793	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	1.165000	0.31822	2.808000	0.96608	0.655000	0.94253	CCT		0.547	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		7	75	0	0	0	1	0	7	75					A	6622217	G	A	6622217	3	1	343	1	0	0	0	0	1	0	0	0	13690	1000	35	2	400	2	RRP8	11	6622217	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		6622217	128384299	7	5867											
PRDX5	25824	broad.mit.edu	37	11	64085693	64085693	+	Silent	SNP	A	A	C			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:64085693A>C	ENST00000265462.4	+	1	134	c.6A>C	c.(4-6)ggA>ggC	p.G2G	PRDX5_ENST00000352435.4_Silent_p.G2G|PRDX5_ENST00000347941.4_Silent_p.G2G|TRMT112_ENST00000535126.1_5'Flank|TRMT112_ENST00000544844.1_5'Flank|TRMT112_ENST00000539854.1_5'Flank|TRMT112_ENST00000308774.2_5'Flank|TRMT112_ENST00000535750.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	2					cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CGGGTATGGGACTAGCTGGCG	0.697																																						uc001nzu.3																			0				breast(1)|kidney(1)|lung(1)|skin(1)	4						c.(4-6)ggA>ggC		Homo sapiens peroxiredoxin 5 (PRDX5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Auranofin(DB00995)						28	31	30					11																	64085693		2200	4296	6496	SO:0001819	synonymous_variant	25824				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity	g.chr11:64085693A>C	AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"antioxidant enzyme B166", "thioredoxin peroxidase PMP20", "peroxisomal antioxidant enzyme", "TPx type VI", "liver tissue 2D-page spot 71B", "Alu co-repressor 1"	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.6A>C	11.37:g.64085693A>C			Somatic				TRMT112_uc001nzt.3_5'Flank|PRDX5_uc001nzv.3_Silent_p.G2G|PRDX5_uc001nzw.3_Silent_p.G2G	p.G2G	NM_012094	NP_036226	WXS	Illumina GAIIx	Phase_I	P30044	PRDX5_HUMAN			0	134	+			2					A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Silent	SNP	ENST00000265462.4	37	c.6A>C	CCDS8069.1																																																																																				0.697	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1	NM_181651		11	20	0	0	0	1	0	11	20					C	64085693	A	C	64085693	2	2	343	1	0	0	0	0	0	0	0	1	12468	262	10	5		5	PRDX5	11	64085693	Silent	SNP	A	TCGA-FE-A231-01A-11D-A14W-08	57463476	64085693	70920823	8	5868											
MIPOL1	145282	broad.mit.edu	37	14	37838730	37838730	+	Silent	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr14:37838730G>A	ENST00000327441.7	+	11	1303	c.837G>A	c.(835-837)cgG>cgA	p.R279R	MIPOL1_ENST00000539062.2_Silent_p.R248R|MIPOL1_ENST00000537471.1_Silent_p.R279R|MIPOL1_ENST00000545536.1_Silent_p.R248R|MIPOL1_ENST00000556451.1_Silent_p.R248R|MIPOL1_ENST00000396294.2_Silent_p.R279R|MIPOL1_ENST00000536774.1_Silent_p.R98R	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	279						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGTGCAAACGGTTAGAGCAGG	0.393																																						uc001wud.3																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(835-837)cgG>cgA		Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.							114	107	109					14																	37838730		2203	4300	6503	SO:0001819	synonymous_variant	145282							g.chr14:37838730G>A	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.837G>A	14.37:g.37838730G>A			Somatic				MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.4_Silent_p.R248R|MIPOL1_uc010ams.3_Silent_p.R279R|MIPOL1_uc001wuc.3_Silent_p.R279R|MIPOL1_uc001wue.3_Silent_p.R248R|MIPOL1_uc010amt.3_Silent_p.R98R	p.R279R	NM_001195297	NP_001182226	WXS	Illumina GAIIx	Phase_I	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	11	1479	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		279					D3DSA4|Q7Z3J0|Q8IV14	Silent	SNP	ENST00000327441.7	37	c.837G>A	CCDS9664.1																																																																																				0.393	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		3	42	0	0	0	1	0	3	42					A	37838730	G	A	37838730	2	1	343	1	0	0	0	0	0	0	0	1	9593	1248	44	2		2	MIPOL1	14	37838730	Silent	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		37838730	69510810	9	5869											
TLN2	83660	broad.mit.edu	37	15	62995030	62995030	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr15:62995030G>C	ENST00000561311.1	+	18	2201	c.1971G>C	c.(1969-1971)caG>caC	p.Q657H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q657H			Q9Y4G6	TLN2_HUMAN	talin 2	657					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						TTCTGAGACAGATTGGAGAGA	0.468																																						uc002alb.4																			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.(1969-1971)caG>caC		Homo sapiens talin 2 (TLN2), mRNA.							127	116	120					15																	62995030		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.chr15:62995030G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1971G>C	15.37:g.62995030G>C	ENSP00000453508:p.Gln657His		Somatic					p.Q657H	NM_015059	NP_055874	WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			15	1971	+			657					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1971G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317870	0.23994	.	.	ENSG00000171914	ENST00000306829	T	0.67523	-0.27	5.65	5.65	0.86999	Talin, central (1);	0.100336	0.64402	D	0.000001	T	0.54565	0.1866	L	0.31926	0.97	0.54753	D	0.99998	B	0.02656	0.0	B	0.04013	0.001	T	0.48019	-0.9071	10	0.15066	T	0.55	-19.4703	15.225	0.73345	0.0692:0.0:0.9308:0.0	.	657	Q9Y4G6	TLN2_HUMAN	H	657	ENSP00000303476:Q657H	ENSP00000303476:Q657H	Q	+	3	2	TLN2	60782322	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.401000	0.52601	2.824000	0.97209	0.655000	0.94253	CAG		0.468	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			29	31	0	0	0	1	0	29	31					C	62995030	G	C	62995030	3	2	343	1	0	0	0	0	1	0	0	0	15945	933	33	4	2033	4	TLN2	15	62995030	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08		62995030	39536362	10	5870											
C16orf48	84080	broad.mit.edu	37	16	67697198	67697198	+	Missense_Mutation	SNP	C	C	T	rs138813287	byFrequency	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:67697198C>T	ENST00000243878.4	-	7	1228	c.907G>A	c.(907-909)Gta>Ata	p.V303I	ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602644.1_3'UTR|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	303	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											GGCAGCAGTACCAGCTCACGC	0.652																																						uc002etw.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10						c.(907-909)Gta>Ata		Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.		C	ILE/VAL	0,4396		0,0,2198	68	67	68		907	1.9	0.8	16	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C16orf48	NM_032140.1	29	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	benign	303/347	67697198	2,12994	2198	4300	6498	SO:0001583	missense	84080					microtubule cytoskeleton	protein binding	g.chr16:67697198C>T	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.907G>A	16.37:g.67697198C>T	ENSP00000243878:p.Val303Ile		Somatic				ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.V185I	p.V303I	NM_032140	NP_115516	WXS	Illumina GAIIx	Phase_I	Q9H0I2	CP048_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	6	1190	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	303					Q6UWD7	Missense_Mutation	SNP	ENST00000243878.4	37	c.907G>A	CCDS10844.1	.	.	.	.	.	.	.	.	.	.	C	9.504	1.103865	0.20632	0.0	2.33E-4	ENSG00000124074	ENST00000243878	.	.	.	5.07	1.92	0.25849	.	0.495536	0.21489	N	0.073701	T	0.28699	0.0711	L	0.51422	1.61	0.29132	N	0.879609	B;B	0.17268	0.009;0.021	B;B	0.15484	0.011;0.013	T	0.17868	-1.0355	9	0.29301	T	0.29	-7.1821	1.1851	0.01854	0.1787:0.4316:0.1238:0.2659	.	303;185	Q9H0I2;Q9H0I2-2	CP048_HUMAN;.	I	303	.	ENSP00000243878:V303I	V	-	1	0	C16orf48	66254699	0.118000	0.22208	0.840000	0.33206	0.982000	0.71751	0.525000	0.22956	0.130000	0.18549	-0.291000	0.09656	GTA		0.652	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		28	92	0	0	0	1	0	28	92					T	67697198	C	T	67697198	3	4	343	1	0	0	0	0	1	0	0	0	1816	507	18	2	137	2	C16orf48	16	67697198	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		67697198	22657555	11	5871											
ATP2C2	9914	broad.mit.edu	37	16	84456271	84456271	+	Missense_Mutation	SNP	G	G	A	rs201615601		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:84456271G>A	ENST00000262429.4	+	9	900	c.811G>A	c.(811-813)Gga>Aga	p.G271R	ATP2C2_ENST00000416219.2_Missense_Mutation_p.G271R|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	271					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						CTCTCAGTTCGGAGAAGTGTT	0.502																																						uc010chj.3																			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.(811-813)Gga>Aga		Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.		G	ARG/GLY	4,3762		0,4,1879	196	196	196		811	5.2	1.0	16		196	0,8224		0,0,4112	yes	missense	ATP2C2	NM_014861.2	125	0,4,5991	AA,AG,GG		0.0,0.1062,0.0334	probably-damaging	271/947	84456271	4,11986	1883	4112	5995	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84456271G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.811G>A	16.37:g.84456271G>A	ENSP00000262429:p.Gly271Arg		Somatic				ATP2C2_uc002fhx.3_Missense_Mutation_p.G271R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G288R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G120R	p.G271R	NM_014861	NP_055676	WXS	Illumina GAIIx	Phase_I	O75185	AT2C2_HUMAN			8	900	+			271					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.811G>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992945	0.93167	0.001062	0.0	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.93189	-3.18;-3.18	5.16	5.16	0.70880	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000004	D	0.98648	0.9547	H	0.99944	5.01	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	D	0.99445	1.0939	10	0.87932	D	0	.	17.1945	0.86888	0.0:0.0:1.0:0.0	.	271;120;288;271	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	R	271;271;120	ENSP00000397925:G271R;ENSP00000262429:G271R	ENSP00000262429:G271R	G	+	1	0	ATP2C2	83013772	1.000000	0.71417	0.971000	0.41717	0.905000	0.53344	9.201000	0.95017	2.381000	0.81170	0.650000	0.86243	GGA		0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		31	259	0	0	0	1	0	31	259					A	84456271	G	A	84456271	3	1	343	1	0	0	0	0	1	0	0	0	1144	1117	39	1	845	1	ATP2C2	16	84456271	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08	16759073	84456271	5898482	12	5872											
QRICH2	84074	broad.mit.edu	37	17	74288474	74288474	+	Silent	SNP	C	C	T			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr17:74288474C>T	ENST00000262765.5	-	4	2015	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	612	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAAACCATGCTGATCCACTC	0.537																																						uc002jrd.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1834-1836)caG>caA		Homo sapiens glutamine rich 2 (QRICH2), mRNA.							153	126	135					17																	74288474		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74288474C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1836G>A	17.37:g.74288474C>T			Somatic				QRICH2_uc010dgw.1_Intron	p.Q612Q	NM_032134	NP_115510	WXS	Illumina GAIIx	Phase_I	Q9H0J4	QRIC2_HUMAN			3	2016	-			612			Gln-rich.		A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.1836G>A	CCDS32741.1																																																																																				0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		3	57	0	0	0	1	0	3	57					T	74288474	C	T	74288474	2	4	343	1	0	0	0	0	0	0	0	1	12880	796	28	2		2	QRICH2	17	74288474	Silent	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		74288474	6906736	13	5873											
PLCB4	5332	broad.mit.edu	37	20	9388617	9388617	+	Silent	SNP	A	A	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:9388617A>G	ENST00000378493.1	+	18	1680	c.1665A>G	c.(1663-1665)gtA>gtG	p.V555V	PLCB4_ENST00000378501.2_Silent_p.V555V|PLCB4_ENST00000278655.4_Silent_p.V555V|PLCB4_ENST00000334005.3_Silent_p.V555V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.V567V|PLCB4_ENST00000378473.3_Silent_p.V567V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	555					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						ATAAATATGTAGGTGCTACCA	0.428																																						uc021wam.1																			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.(1663-1665)gtA>gtG		Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.							170	156	161					20																	9388617		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9388617A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1665A>G	20.37:g.9388617A>G			Somatic				PLCB4_uc010gbw.1_Silent_p.V555V|PLCB4_uc010gbx.3_Silent_p.V567V|PLCB4_uc021wal.1_Silent_p.V555V|PLCB4_uc002wnh.3_Silent_p.V402V	p.V555V	NM_000933	NP_000924	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			17	1680	+			555					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.1665A>G	CCDS13105.1																																																																																				0.428	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			3	141	0	0	0	1	0	3	141					G	9388617	A	G	9388617	2	3	343	1	0	0	0	0	0	0	0	1	12030	407	15	3		3	PLCB4	20	9388617	Silent	SNP	A	TCGA-FE-A231-01A-11D-A14W-08		9388617	53636903	14	5874											
EIF2S2	8894	broad.mit.edu	37	20	32677564	32677564	+	Missense_Mutation	SNP	C	C	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:32677564C>G	ENST00000374980.2	-	9	1195	c.974G>C	c.(973-975)cGa>cCa	p.R325P		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAGCTGTGCTCGCTTGCCCGT	0.473																																						uc002xaf.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(973-975)cGa>cCa		Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.							80	69	73					20																	32677564		2203	4300	6503	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677564C>G	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.974G>C	20.37:g.32677564C>G	ENSP00000364119:p.Arg325Pro		Somatic					p.R325P	NM_003908	NP_003899	WXS	Illumina GAIIx	Phase_I	P20042	IF2B_HUMAN			8	1143	-			325					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.974G>C	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933460	0.92458	.	.	ENSG00000125977	ENST00000374980	T	0.66280	-0.2	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	M	0.90870	3.155	0.80722	D	1	D;D;D	0.67145	0.994;0.996;0.996	D;D;D	0.72982	0.951;0.979;0.979	D	0.86389	0.1734	10	0.87932	D	0	-25.1421	20.8599	0.99761	0.0:1.0:0.0:0.0	.	325;325;325	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	P	325	ENSP00000364119:R325P	ENSP00000364119:R325P	R	-	2	0	EIF2S2	32141225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.783000	0.85696	2.937000	0.99478	0.650000	0.86243	CGA		0.473	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		25	42	0	0	0	1	0	25	42					G	32677564	C	G	32677564	3	3	343	1	0	0	0	0	1	0	0	0	5010	884	31	4	31	4	EIF2S2	20	32677564	Missense_Mutation	SNP	C	TCGA-FE-A231-01A-11D-A14W-08	23288947	32677564	30347956	15	5875											
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	byFrequency	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					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)	p.A222T(1)		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)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0	0	5008	,	,		19301	0		0.001	False		,,,				2504	0.0031					uc002xwo.3																			1	Substitution - Missense(1)	p.A222T(2)|p.A222V(1)	ovary(1)	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.(664-666)Gcg>Acg		Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.							57	52	53					20																	51870661		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.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr		Somatic				TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	p.A222T	NM_173485	NP_775756	WXS	Illumina GAIIx	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		1	1551	+			222					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		10	29	0	0	0	1	0	10	29					A	51870661	G	A	51870661	3	1	343	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-FE-A231-01A-11D-A14W-08	19193097	51870661	11154859	16	5876											
PANX2	56666	broad.mit.edu	37	22	50615510	50615510	+	Silent	SNP	C	C	T			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr22:50615510C>T	ENST00000395842.2	+	2	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PANX2_ENST00000159647.5_Silent_p.F123F	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	123					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AGCACAAGTTCCTGCCCTACG	0.697																																						uc003bjn.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(367-369)ttC>ttT		Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.							36	29	31					22																	50615510		2195	4294	6489	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615510C>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.369C>T	22.37:g.50615510C>T			Somatic				PANX2_uc003bjp.4_5'UTR|PANX2_uc003bjo.4_Silent_p.F123F	p.F123F	NM_052839	NP_443071	WXS	Illumina GAIIx	Phase_I	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	369	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	123					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.369C>T	CCDS14085.2																																																																																				0.697	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		8	14	0	0	0	1	0	8	14					T	50615510	C	T	50615510	2	4	343	1	0	0	0	0	0	0	0	1	11421	854	30	2		2	PANX2	22	50615510	Silent	SNP	C	TCGA-FE-A231-01A-11D-A14W-08		50615510	689056	17	5877											
ASH1L	55870	broad.mit.edu	37	1	155491033	155491033	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr1:155491033G>C	ENST00000368346.3	-	2	917	c.278C>G	c.(277-279)gCt>gGt	p.A93G	ASH1L_ENST00000548830.1_Missense_Mutation_p.A93G|ASH1L_ENST00000392403.3_Missense_Mutation_p.A93G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	93					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTTCTCTTAGCCTGGAGGCC	0.383																																						uc009wqq.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(277-279)gCt>gGt		Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.							157	162	160					1																	155491033		2203	4300	6503	SO:0001583	missense	55870				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491033G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.278C>G	1.37:g.155491033G>C	ENSP00000357330:p.Ala93Gly		Somatic				ASH1L_uc001fkt.3_Missense_Mutation_p.A93G|ASH1L_uc009wqr.1_Missense_Mutation_p.A93G	p.A93G	NM_018489	NP_060959	WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		1	758	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		93					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.278C>G		.	.	.	.	.	.	.	.	.	.	G	28.4	4.915143	0.92178	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.91295	-2.82;-2.82	5.89	5.89	0.94794	.	0.075497	0.53938	D	0.000047	D	0.88385	0.6422	N	0.14661	0.345	0.49798	D	0.99982	D;D	0.58268	0.97;0.982	P;P	0.58013	0.681;0.831	D	0.90361	0.4373	10	0.66056	D	0.02	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	93;93	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	G	93	ENSP00000357330:A93G;ENSP00000376204:A93G	ENSP00000357330:A93G	A	-	2	0	ASH1L	153757657	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.926000	0.92839	2.788000	0.95919	0.557000	0.71058	GCT		0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	222	0	0	0	1	0	8	222					C	155491033	G	C	155491033	3	2	344	1	0	0	0	0	1	0	0	0	1041	971	34	4	8724	4	ASH1L	1	155491033	Missense_Mutation	SNP	G	TCGA-FE-A232-01A-11D-A14W-08		155491033	93759588	1	5878											
CHST10	9486	broad.mit.edu	37	2	101009934	101009934	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr2:101009934G>A	ENST00000264249.3	-	7	1229	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	CHST10_ENST00000409701.1_Missense_Mutation_p.H282Y|CHST10_ENST00000542617.1_Missense_Mutation_p.H330Y	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	282					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTCTCGTGGTGTCCAATCACA	0.522																																						uc002tam.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(844-846)Cac>Tac		Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.							223	184	197					2																	101009934		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101009934G>A	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.844C>T	2.37:g.101009934G>A	ENSP00000264249:p.His282Tyr		Somatic					p.H282Y	NM_004854	NP_004845	WXS	Illumina GAIIx	Phase_I	O43529	CHSTA_HUMAN			6	1242	-			282					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.844C>T	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010720	0.93346	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73152	-0.72;-0.72;-0.72	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	M	0.76574	2.34	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	D	0.84714	0.0736	10	0.87932	D	0	-39.552	20.2963	0.98556	0.0:0.0:1.0:0.0	.	282	O43529	CHSTA_HUMAN	Y	282;330;282	ENSP00000264249:H282Y;ENSP00000438869:H330Y;ENSP00000387309:H282Y	ENSP00000264249:H282Y	H	-	1	0	CHST10	100376366	1.000000	0.71417	0.973000	0.42090	0.999000	0.98932	9.869000	0.99810	2.813000	0.96785	0.655000	0.94253	CAC		0.522	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		21	90	0	0	0	1	0	21	90					A	101009934	G	A	101009934	3	1	344	1	0	0	0	0	1	0	0	0	3398	1377	48	2	230	2	CHST10	2	101009934	Missense_Mutation	SNP	G	TCGA-FE-A232-01A-11D-A14W-08		101009934	142189439	2	5879											
KIF4B	285643	broad.mit.edu	37	5	154393468	154393468	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr5:154393468C>T	ENST00000435029.4	+	1	209	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)			ACTGCGTTGTCGCCCTCTGGT	0.542																																						uc010jih.1																			0		p.R17H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(49-51)Cgc>Tgc		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							122	116	118					5																	154393468		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.chr5:154393468C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.49C>T	5.37:g.154393468C>T	ENSP00000387875:p.Arg17Cys		Somatic					p.R17C	NM_001099293	NP_001092763	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	209	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	17			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.49C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989551	0.53934	.	.	ENSG00000226650	ENST00000435029	D	0.85339	-1.97	1.48	1.48	0.22813	Kinesin, motor domain (4);	.	.	.	.	D	0.95149	0.8428	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93917	0.7202	9	0.87932	D	0	.	8.8832	0.35387	0.0:1.0:0.0:0.0	.	17	Q2VIQ3	KIF4B_HUMAN	C	17	ENSP00000387875:R17C	ENSP00000387875:R17C	R	+	1	0	KIF4B	154373661	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	1.391000	0.34475	1.138000	0.42230	0.563000	0.77884	CGC		0.542	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			16	59	0	0	0	1	0	16	59					T	154393468	C	T	154393468	3	4	344	1	0	0	0	0	1	0	0	0	8304	884	31	1	51	1	KIF4B	5	154393468	Missense_Mutation	SNP	C	TCGA-FE-A232-01A-11D-A14W-08		154393468	26521792	3	5880											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	47	0	0	0	1	0	20	47					T	140453136	A	T	140453136	3	4	344	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		140453136	18685527	4	5881											
RBM17	84991	broad.mit.edu	37	10	6150700	6150700	+	Missense_Mutation	SNP	A	A	C	rs368547331		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr10:6150700A>C	ENST00000446108.1	+	6	1201	c.557A>C	c.(556-558)aAa>aCa	p.K186T	RBM17_ENST00000379888.4_Missense_Mutation_p.K186T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	186					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAGAAAGACAAAGAGTGTAAG	0.488											OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ijb.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(556-558)aAa>aCa		Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.							145	136	139					10																	6150700		2203	4300	6503	SO:0001583	missense	84991				RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding	g.chr10:6150700A>C	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.557A>C	10.37:g.6150700A>C	ENSP00000388638:p.Lys186Thr		Somatic	OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	631	RBM17_uc010qav.2_Missense_Mutation_p.K186T	p.K186T	NM_032905	NP_116294	WXS	Illumina GAIIx	Phase_I	Q96I25	SPF45_HUMAN			5	783	+			186					Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	c.557A>C	CCDS7077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.72|13.72	2.321063|2.321063	0.41096|0.41096	.|.	.|.	ENSG00000134453|ENSG00000134453	ENST00000447032|ENST00000372795;ENST00000379888;ENST00000437845;ENST00000432931;ENST00000446108;ENST00000418631	T|T;T;T;T	0.47177|0.46819	0.85|0.86;0.86;0.86;0.86	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.121654|0.121654	0.56097|0.56097	D|D	0.000028|0.000028	T|T	0.24005|0.24005	0.0581|0.0581	N|N	0.04508|0.04508	-0.205|-0.205	0.40109|0.40109	D|D	0.976465|0.976465	.|B	.|0.27498	.|0.18	.|B	.|0.27076	.|0.076	T|T	0.12889|0.12889	-1.0530|-1.0530	8|10	0.14656|0.26408	T|T	0.56|0.33	-25.8673|-25.8673	9.2873|9.2873	0.37764|0.37764	0.9185:0.0:0.0815:0.0|0.9185:0.0:0.0815:0.0	.|.	.|186	.|Q96I25	.|SPF45_HUMAN	Q|T	93|154;186;154;185;186;186	ENSP00000406024:K93Q|ENSP00000369218:K186T;ENSP00000408214:K185T;ENSP00000388638:K186T;ENSP00000402303:K186T	ENSP00000406024:K93Q|ENSP00000361881:K154T	K|K	+|+	1|2	0|0	RBM17|RBM17	6190706|6190706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	5.437000|5.437000	0.66544|0.66544	1.931000|1.931000	0.55961|0.55961	0.455000|0.455000	0.32223|0.32223	AAG|AAA		0.488	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		4	19	0	0	0	1	0	4	19					C	6150700	A	C	6150700	3	2	344	1	0	0	0	0	1	0	0	0	13119	14	1	5	575	5	RBM17	10	6150700	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		6150700	129384047	5	5882											
CACNA1C	775	broad.mit.edu	37	12	2614030	2614030	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:2614030A>G	ENST00000347598.4	+	8	1136	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G	CACNA1C_ENST00000399606.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D379G|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D379G|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D379G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	379					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)	GTAGGAAGGGACTGGCCCTGG	0.512																																						uc009zdu.1																			0		p.N378K(1)		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.(1135-1137)gAc>gGc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						107	109	108					12																	2614030		1977	4171	6148	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.chr12:2614030A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1136A>G	12.37:g.2614030A>G	ENSP00000266376:p.Asp379Gly		Somatic				CACNA1C_uc001qkc.2_Missense_Mutation_p.D379G|CACNA1C_uc001qjz.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkd.2_Missense_Mutation_p.D379G|CACNA1C_uc001qke.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkf.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdw.1_Missense_Mutation_p.D379G|CACNA1C_uc001qkg.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkh.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkl.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkp.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkq.2_Missense_Mutation_p.D379G|CACNA1C_uc001qku.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkr.2_Missense_Mutation_p.D379G|CACNA1C_uc001qks.2_Missense_Mutation_p.D379G|CACNA1C_uc001qkt.2_Missense_Mutation_p.D379G|CACNA1C_uc009zdv.1_Missense_Mutation_p.D376G|CACNA1C_uc001qkb.2_Missense_Mutation_p.D379G|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	p.D379G	NM_199460	NP_955630	WXS	Illumina GAIIx	Phase_I	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1449	+			379					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.1136A>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359866	0.41801	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399595	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.18	5.18	0.71444	Ion transport (1);	.	.	.	.	D	0.93776	0.8010	N	0.16833	0.445	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32800	0.385;0.096;0.0;0.261;0.142;0.096;0.142;0.0;0.0;0.142;0.083;0.0;0.142;0.0;0.019;0.142;0.142;0.019;0.019	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.37387	0.248;0.068;0.002;0.248;0.136;0.068;0.136;0.003;0.004;0.136;0.136;0.002;0.136;0.002;0.046;0.093;0.093;0.046;0.046	D	0.93520	0.6860	9	0.52906	T	0.07	.	15.1942	0.73071	1.0:0.0:0.0:0.0	.	379;376;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379;379	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	G	379	ENSP00000336982:D379G;ENSP00000382563:D379G;ENSP00000437936:D379G;ENSP00000382552:D379G;ENSP00000382547:D379G;ENSP00000382506:D379G;ENSP00000382530:D379G;ENSP00000382546:D379G;ENSP00000382500:D379G;ENSP00000266376:D379G;ENSP00000382515:D379G;ENSP00000382510:D379G;ENSP00000341092:D379G;ENSP00000382537:D379G;ENSP00000329877:D379G;ENSP00000382557:D379G;ENSP00000385724:D379G;ENSP00000382504:D379G	ENSP00000329877:D379G	D	+	2	0	CACNA1C	2484291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.689000	0.54706	2.172000	0.68678	0.533000	0.62120	GAC		0.512	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		10	17	0	0	0	1	0	10	17					G	2614030	A	G	2614030	3	3	344	1	0	0	0	0	1	0	0	0	2540	275	10	3	1274	3	CACNA1C	12	2614030	Missense_Mutation	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		2614030	131237865	6	5883											
UTP20	27340	broad.mit.edu	37	12	101685754	101685754	+	Missense_Mutation	SNP	T	T	A			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:101685754T>A	ENST00000261637.4	+	10	1219	c.1045T>A	c.(1045-1047)Tct>Act	p.S349T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	349					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAGGTGTTATCTCAAACACT	0.423																																						uc001tia.1																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(1045-1047)Tct>Act		Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.							155	153	153					12																	101685754		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101685754T>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1045T>A	12.37:g.101685754T>A	ENSP00000261637:p.Ser349Thr		Somatic					p.S349T	NM_014503	NP_055318	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			9	1201	+			349					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1045T>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	4.046	0.006157	0.07866	.	.	ENSG00000120800	ENST00000261637	T	0.64991	-0.13	5.91	2.11	0.27256	Armadillo-type fold (1);	0.557097	0.19212	N	0.119896	T	0.40473	0.1118	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12142	-1.0559	10	0.14252	T	0.57	-9.4066	2.0281	0.03523	0.2313:0.0731:0.2137:0.4818	.	349	O75691	UTP20_HUMAN	T	349	ENSP00000261637:S349T	ENSP00000261637:S349T	S	+	1	0	UTP20	100209885	0.057000	0.20700	0.008000	0.14137	0.038000	0.13279	1.137000	0.31479	0.441000	0.26529	0.533000	0.62120	TCT		0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		4	157	0	0	0	1	0	4	157					A	101685754	T	A	101685754	3	1	344	1	0	0	0	0	1	0	0	0	17096	1435	50	5	1083	5	UTP20	12	101685754	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08	99071724	101685754	32166141	7	5884											
IFT140	9742	broad.mit.edu	37	16	1570247	1570247	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:1570247T>C	ENST00000426508.2	-	28	4121	c.3758A>G	c.(3757-3759)tAc>tGc	p.Y1253C	IFT140_ENST00000361339.5_Missense_Mutation_p.Y447C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1253					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)				GGACTGCAGGTAGTTAGCAGC	0.562																																						uc002cmb.3																			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.(3757-3759)tAc>tGc		Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.							138	131	133					16																	1570247		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570247T>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3758A>G	16.37:g.1570247T>C	ENSP00000406012:p.Tyr1253Cys		Somatic				IFT140_uc002clz.3_Missense_Mutation_p.Y866C	p.Y1253C	NM_014714	NP_055529	WXS	Illumina GAIIx	Phase_I	Q96RY7	IF140_HUMAN			27	4120	-		Hepatocellular(780;0.219)	1253					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3758A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046069	0.75846	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.57107	0.42;0.42	6.02	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80756	-0.1240	10	0.49607	T	0.09	.	13.5567	0.61763	0.0:0.0:0.1298:0.8702	.	1253;940	Q96RY7;B4DR58	IF140_HUMAN;.	C	1253;447;1253	ENSP00000354895:Y447C;ENSP00000406012:Y1253C	ENSP00000354895:Y447C	Y	-	2	0	IFT140	1510248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.971000	0.88012	1.085000	0.41206	0.533000	0.62120	TAC		0.562	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		4	110	0	0	0	1	0	4	110					C	1570247	T	C	1570247	3	2	344	1	0	0	0	0	1	0	0	0	7556	1638	57	3	646	3	IFT140	16	1570247	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08		1570247	88784506	8	5885											
COG7	91949	broad.mit.edu	37	16	23453819	23453819	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:23453819C>T	ENST00000307149.5	-	4	768	c.583G>A	c.(583-585)Gca>Aca	p.A195T	SNORA75_ENST00000391291.1_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	195					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGGTGAATGCCGCTACAATC	0.458																																						uc002dlo.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(583-585)Gca>Aca		Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.							122	98	106					16																	23453819		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23453819C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.583G>A	16.37:g.23453819C>T	ENSP00000305442:p.Ala195Thr		Somatic					p.A195T	NM_153603	NP_705831	WXS	Illumina GAIIx	Phase_I	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	3	780	-			195					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.583G>A	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	8.911	0.958683	0.18507	.	.	ENSG00000168434	ENST00000307149	T	0.50813	0.73	5.77	4.81	0.61882	.	0.257927	0.45126	D	0.000384	T	0.37210	0.0995	N	0.25485	0.75	0.26207	N	0.979357	B	0.12013	0.005	B	0.17433	0.018	T	0.21449	-1.0245	10	0.35671	T	0.21	-3.2925	15.5215	0.75869	0.1387:0.8613:0.0:0.0	.	195	P83436	COG7_HUMAN	T	195	ENSP00000305442:A195T	ENSP00000305442:A195T	A	-	1	0	COG7	23361320	0.808000	0.29022	0.003000	0.11579	0.007000	0.05969	1.937000	0.40193	1.415000	0.47037	0.655000	0.94253	GCA		0.458	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			4	99	0	0	0	1	0	4	99					T	23453819	C	T	23453819	3	4	344	1	0	0	0	0	1	0	0	0	3663	739	26	2	1785	2	COG7	16	23453819	Missense_Mutation	SNP	C	TCGA-FE-A232-01A-11D-A14W-08	21883572	23453819	66900934	9	5886											
C16orf87	388272	broad.mit.edu	37	16	46843651	46843651	+	Silent	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:46843651T>C	ENST00000285697.4	-	3	471	c.210A>G	c.(208-210)agA>agG	p.R70R	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	70										large_intestine(4)|urinary_tract(1)	5						TTATCTTCTCTCTCCTAACTC	0.388																																						uc002eek.1																			0				large_intestine(4)|urinary_tract(1)	5						c.(208-210)agA>agG		Homo sapiens chromosome 16 open reading frame 87 (C16orf87), mRNA.							195	178	184					16																	46843651		2203	4300	6503	SO:0001819	synonymous_variant	388272							g.chr16:46843651T>C		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.210A>G	16.37:g.46843651T>C			Somatic					p.R70R	NM_001001436	NP_001001436	WXS	Illumina GAIIx	Phase_I	Q6PH81	CP087_HUMAN			2	223	-			70					Q63HN9	Silent	SNP	ENST00000285697.4	37	c.210A>G	CCDS10724.1																																																																																				0.388	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		3	115	0	0	0	1	0	3	115					C	46843651	T	C	46843651	2	2	344	1	0	0	0	0	0	0	0	1	1840	1548	54	3		3	C16orf87	16	46843651	Silent	SNP	T	TCGA-FE-A232-01A-11D-A14W-08	23389832	46843651	43511102	10	5887											
BRIP1	83990	broad.mit.edu	37	17	59761320	59761320	+	Silent	SNP	A	A	G			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr17:59761320A>G	ENST00000259008.2	-	20	3354	c.3087T>C	c.(3085-3087)agT>agC	p.S1029S		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1029	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GACTAGAGGCACTATTCTCTG	0.403			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														uc002izk.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3085-3087)agT>agC	Involved in tolerance or repair of DNA crosslinks	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.							125	120	122					17																	59761320		2203	4300	6503	SO:0001819	synonymous_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59761320A>G	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3087T>C	17.37:g.59761320A>G			Somatic					p.S1029S	NM_032043	NP_114432	WXS	Illumina GAIIx	Phase_I	Q9BX63	FANCJ_HUMAN			19	3393	-			1029			Interaction with BRCA1.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.3087T>C	CCDS11631.1																																																																																				0.403	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		4	107	0	0	0	1	0	4	107					G	59761320	A	G	59761320	2	3	344	1	0	0	0	0	0	0	0	1	1514	156	6	3		3	BRIP1	17	59761320	Silent	SNP	A	TCGA-FE-A232-01A-11D-A14W-08		59761320	21433890	11	5888											
SFRS15	57466	broad.mit.edu	37	21	33073397	33073397	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr21:33073397T>C	ENST00000286835.7	-	7	1070	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	SCAF4_ENST00000434667.3_Missense_Mutation_p.I215V|SCAF4_ENST00000399804.1_Missense_Mutation_p.I230V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	230						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGCTGTGATAGCCTGAACC	0.453																																						uc002ypd.2																			0		p.A229A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(688-690)Atc>Gtc		Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.							150	143	145					21																	33073397		2203	4300	6503	SO:0001583	missense	57466					nucleus	RNA binding|nucleotide binding	g.chr21:33073397T>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.688A>G	21.37:g.33073397T>C	ENSP00000286835:p.Ile230Val		Somatic				SCAF4_uc002ype.2_Missense_Mutation_p.I230V|SCAF4_uc010glu.2_Missense_Mutation_p.I215V|SCAF4_uc002ypf.1_5'UTR|SCAF4_uc002ypg.2_Missense_Mutation_p.I230V	p.I230V	NM_020706	NP_065757	WXS	Illumina GAIIx	Phase_I	O95104	SFR15_HUMAN			6	1114	-			230					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.688A>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312278	0.40895	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.43688	1.0;0.96;0.94	6.07	3.66	0.41972	.	0.165882	0.51477	D	0.000096	T	0.34571	0.0902	L	0.50919	1.6	0.42758	D	0.993799	B;B;B;B	0.12630	0.004;0.003;0.006;0.004	B;B;B;B	0.09377	0.002;0.003;0.004;0.002	T	0.11891	-1.0569	10	0.11794	T	0.64	-1.5607	13.1868	0.59686	0.0:0.0:0.2513:0.7487	.	215;230;230;230	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	V	215;230;230	ENSP00000402377:I215V;ENSP00000286835:I230V;ENSP00000382703:I230V	ENSP00000286835:I230V	I	-	1	0	SCAF4	31995268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.686000	0.46968	0.505000	0.28104	0.533000	0.62120	ATC		0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		16	52	0	0	0	1	0	16	52					C	33073397	T	C	33073397	3	2	344	1	0	0	0	0	1	0	0	0	14171	1406	49	3	2811	3	SFRS15	21	33073397	Missense_Mutation	SNP	T	TCGA-FE-A232-01A-11D-A14W-08		33073397	15056498	12	5889											
OR10Z1	128368	broad.mit.edu	37	1	158576999	158576999	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr1:158576999C>A	ENST00000361284.1	+	1	771	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	257						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTTCCTTCGTGTACCTGA	0.493																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(769-771)ttC>ttA		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.							199	203	202					1																	158576999		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576999C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.771C>A	1.37:g.158576999C>A	ENSP00000354707:p.Phe257Leu		Somatic					p.F257L	NM_001004478	NP_001004478	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			0	771	+	all_hematologic(112;0.0378)		257					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.771C>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297615	0.60086	.	.	ENSG00000198967	ENST00000361284	T	0.00241	8.46	5.05	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	N	0.001232	T	0.00178	0.0005	L	0.41632	1.29	0.30201	N	0.798619	D	0.89917	1.0	D	0.80764	0.994	T	0.55903	-0.8067	10	0.48119	T	0.1	.	12.2596	0.54642	0.0:0.9169:0.0:0.0831	.	257	Q8NGY1	O10Z1_HUMAN	L	257	ENSP00000354707:F257L	ENSP00000354707:F257L	F	+	3	2	OR10Z1	156843623	0.838000	0.29461	1.000000	0.80357	0.848000	0.48234	0.212000	0.17497	1.352000	0.45808	0.650000	0.86243	TTC		0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		14	267	0	0	0	1	0	14	267					A	158576999	C	A	158576999	3	1	345	1	0	0	0	0	1	0	0	0	10923	883	31	4	773	4	OR10Z1	1	158576999	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		158576999	90673622	1	5890											
LSAMP	4045	broad.mit.edu	37	3	115571362	115571362	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr3:115571362G>A	ENST00000490035.2	-	4	1116	c.617C>T	c.(616-618)gCg>gTg	p.A206V	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.A203V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	206	Ig-like C2-type 2.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TTTGACATCCGCCGAGGAGAC	0.527																																						uc011bis.2																			0		p.S205S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(616-618)gCg>gTg		Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.							146	124	132					3																	115571362		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115571362G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.617C>T	3.37:g.115571362G>A	ENSP00000419000:p.Ala206Val		Somatic				LSAMP_uc003ebs.3_Missense_Mutation_p.A206V	p.A206V	NM_002338	NP_002329	WXS	Illumina GAIIx	Phase_I	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	3	1124	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	206			Ig-like C2-type 2.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.617C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010766	0.93346	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.67698	-0.28;-0.28;-0.28	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.047588	0.85682	D	0.000000	T	0.75324	0.3834	L	0.43701	1.375	0.58432	D	0.999998	D;D	0.67145	0.996;0.989	P;P	0.58331	0.792;0.837	T	0.73288	-0.4030	10	0.51188	T	0.08	-9.0498	20.8794	0.99867	0.0:0.0:1.0:0.0	.	206;206	B2RCU8;Q13449	.;LSAMP_HUMAN	V	190;206;203	ENSP00000328455:A190V;ENSP00000419000:A206V;ENSP00000443429:A203V	ENSP00000328455:A190V	A	-	2	0	LSAMP	117054052	1.000000	0.71417	0.976000	0.42696	0.943000	0.58893	8.882000	0.92420	2.941000	0.99782	0.655000	0.94253	GCG		0.527	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		29	37	0	0	0	1	0	29	37					A	115571362	G	A	115571362	3	1	345	1	0	0	0	0	1	0	0	0	9048	1087	38	1	415	1	LSAMP	3	115571362	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		115571362	82451068	2	5891											
KIF13A	63971	broad.mit.edu	37	6	17765031	17765031	+	Silent	SNP	C	C	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:17765031C>T	ENST00000259711.6	-	39	4833	c.4728G>A	c.(4726-4728)ctG>ctA	p.L1576L	KIF13A_ENST00000378843.2_Silent_p.L1528L|KIF13A_ENST00000378826.2_Silent_p.L1541L|KIF13A_ENST00000378814.5_Silent_p.L1528L|KIF13A_ENST00000378816.5_Silent_p.L1541L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1576					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTGAGTTTGACAGATCTACTT	0.473																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4726-4728)ctG>ctA		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							77	75	75					6																	17765031		1957	4158	6115	SO:0001819	synonymous_variant	63971				Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17765031C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4728G>A	6.37:g.17765031C>T			Somatic				KIF13A_uc003ncf.3_Silent_p.L1528L|KIF13A_uc003nch.4_Silent_p.L1541L|KIF13A_uc003nci.4_Silent_p.L1528L|KIF13A_uc003nce.2_Silent_p.L127L	p.L1576L	NM_022113	NP_071396	WXS	Illumina GAIIx	Phase_I	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		38	4888	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1576					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4728G>A	CCDS47381.1																																																																																				0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			3	34	0	0	0	1	0	3	34					T	17765031	C	T	17765031	2	4	345	1	0	0	0	0	0	0	0	1	8274	465	17	2		2	KIF13A	6	17765031	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		17765031	153350036	3	5892											
PKHD1	5314	broad.mit.edu	37	6	51523917	51523917	+	Silent	SNP	C	C	T	rs142855690		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr6:51523917C>T	ENST00000371117.3	-	61	11282	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3669					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACTGTTGGCGAATCACCAA	0.423													c|||	1	0.000199681	0	0	5008	,	,		20393	0		0.001	False		,,,				2504	0					uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11005-11007)tcG>tcA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G		0,4406		0,0,2203	173	159	164		11007	-3.1	0.0	6	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PKHD1	NM_138694.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3669/4075	51523917	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51523917C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11007G>A	6.37:g.51523917C>T			Somatic					p.S3669S	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			60	11283	-	Lung NSC(77;0.0605)		3669					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.11007G>A	CCDS4935.1																																																																																				0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		11	184	0	0	0	1	0	11	184					T	51523917	C	T	51523917	2	4	345	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51523917	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08	33758886	51523917	119591150	4	5893											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	45	0	0	0	1	0	38	45					T	140453136	A	T	140453136	3	4	345	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A233-01A-11D-A14W-08		140453136	18685527	5	5894											
TMEM26	219623	broad.mit.edu	37	10	63170274	63170274	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr10:63170274C>T	ENST00000399298.3	-	6	1281	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	305						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCAGCACCACCAAGCGGTAG	0.532																																						uc001jlo.2																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(913-915)Gtg>Atg		Homo sapiens transmembrane protein 26 (TMEM26), mRNA.							107	111	110					10																	63170274		2099	4228	6327	SO:0001583	missense	219623					integral to membrane		g.chr10:63170274C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.913G>A	10.37:g.63170274C>T	ENSP00000382237:p.Val305Met		Somatic				TMEM26_uc001jlp.1_Non-coding_Transcript	p.V305M	NM_178505	NP_848600	WXS	Illumina GAIIx	Phase_I	Q6ZUK4	TMM26_HUMAN			5	1282	-	Prostate(12;0.0112)		305					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.913G>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490649	0.26686	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.75	2.46	0.29980	.	0.904447	0.09609	N	0.779206	T	0.21186	0.0510	N	0.17082	0.46	0.09310	N	0.999998	B	0.30406	0.278	B	0.21360	0.034	T	0.14615	-1.0466	9	0.46703	T	0.11	-0.2329	8.4784	0.33027	0.0:0.6912:0.1303:0.1785	.	305	Q6ZUK4	TMM26_HUMAN	M	305	.	ENSP00000382237:V305M	V	-	1	0	TMEM26	62840280	0.000000	0.05858	0.979000	0.43373	0.609000	0.37215	0.106000	0.15354	0.757000	0.33036	0.655000	0.94253	GTG		0.532	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		8	49	0	0	0	1	0	8	49					T	63170274	C	T	63170274	3	4	345	1	0	0	0	0	1	0	0	0	16148	507	18	2	197	2	TMEM26	10	63170274	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		63170274	72364473	6	5895											
C10orf119	79892	broad.mit.edu	37	10	121618395	121618395	+	Splice_Site	SNP	C	C	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr10:121618395C>A	ENST00000360003.3	-	4	497		c.e4+1		MCMBP_ENST00000466047.1_Splice_Site|MCMBP_ENST00000369077.3_Splice_Site	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AAGATACATACCCCACACTCT	0.269																																						uc001ler.2																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.e4+1		Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.							39	40	40					10																	121618395		2201	4294	6495	SO:0001630	splice_region_variant	79892				DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121618395C>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.327+1G>T	10.37:g.121618395C>A			Somatic				MCMBP_uc001les.1_Splice_Site|MCMBP_uc021pzr.1_5'Flank	p.G109_splice	NM_024834	NP_079110	WXS	Illumina GAIIx	Phase_I	Q9BTE3	MCMBP_HUMAN			4	625	-			109					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Splice_Site	SNP	ENST00000360003.3	37	c.327_splice	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916588	0.73098	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7632	0.88470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCMBP	121608385	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.382000	0.66213	2.281000	0.76405	0.467000	0.42956	.		0.269	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	Intron	7	99	0	0	0	1	0	7	99					A	121618395	C	A	121618395	5	1	345	1	0	0	0	0	0	0	1	0	1588	521	18	4	1652	4	C10orf119	10	121618395	Splice_Site	SNP	C	TCGA-FE-A233-01A-11D-A14W-08	58448121	121618395	13916352	7	5896											
RAD51AP1	10635	broad.mit.edu	37	12	4657258	4657258	+	Splice_Site	SNP	G	G	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr12:4657258G>A	ENST00000544927.1	+	5	330	c.320G>A	c.(319-321)aGc>aAc	p.S107N	RAD51AP1_ENST00000321524.7_Splice_Site_p.S124N|RAD51AP1_ENST00000228843.9_Splice_Site_p.S124N|RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000352618.4_Splice_Site_p.S107N					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TTATATTTAGGCATTGAAAAA	0.254																																						uc001qmw.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.e6-1		Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.							61	69	66					12																	4657258		2195	4288	6483	SO:0001630	splice_region_variant	10635				double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding	g.chr12:4657258G>A	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.320-1G>A	12.37:g.4657258G>A			Somatic				RAD51AP1_uc001qmu.3_Splice_Site_p.S107_splice|RAD51AP1_uc010sep.2_Splice_Site|RAD51AP1_uc010seq.2_Splice_Site|RAD51AP1_uc009zeg.3_5'Flank	p.S124_splice	NM_001130862	NP_001124334	WXS	Illumina GAIIx	Phase_I	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		6	527	+			124						Splice_Site	SNP	ENST00000544927.1	37	c.371_splice		.	.	.	.	.	.	.	.	.	.	G	13.28	2.189731	0.38707	.	.	ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.86	0.667	0.17907	.	0.883383	0.10324	N	0.688437	T	0.26376	0.0644	L	0.48362	1.52	0.58432	D	0.999999	B;B;P	0.41848	0.004;0.004;0.763	B;B;B	0.41813	0.003;0.002;0.367	T	0.11421	-1.0588	9	.	.	.	.	6.3266	0.21246	0.442:0.0:0.558:0.0	.	124;124;107	Q96B01;A8K313;Q96B01-2	R51A1_HUMAN;.;.	N	124;124;107;107	ENSP00000323750:S124N;ENSP00000228843:S124N;ENSP00000309479:S107N;ENSP00000446296:S107N	.	S	+	2	0	RAD51AP1	4527519	0.555000	0.26530	0.494000	0.27515	0.264000	0.26372	0.173000	0.16724	0.254000	0.21573	0.591000	0.81541	AGC		0.254	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479	Missense_Mutation	6	118	0	0	0	1	0	6	118					A	4657258	G	A	4657258	5	1	345	1	0	0	0	0	0	0	1	0	12986	1217	42	2	393	2	RAD51AP1	12	4657258	Splice_Site	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		4657258	129194637	8	5897											
ITGBL1	9358	broad.mit.edu	37	13	102235682	102235682	+	Silent	SNP	C	C	A			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr13:102235682C>A	ENST00000376180.3	+	6	1063	c.844C>A	c.(844-846)Cga>Aga	p.R282R	ITGBL1_ENST00000376162.3_Silent_p.R189R|ITGBL1_ENST00000545560.2_Silent_p.R141R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	282	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTCTATGACCGATATTCTGA	0.458																																						uc001vpb.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(844-846)Cga>Aga		Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.							229	220	223					13																	102235682		2203	4300	6503	SO:0001819	synonymous_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102235682C>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.844C>A	13.37:g.102235682C>A			Somatic				ITGBL1_uc010agb.3_Silent_p.R233R|ITGBL1_uc001vpc.4_Silent_p.R141R	p.R282R	NM_004791	NP_004782	WXS	Illumina GAIIx	Phase_I	O95965	ITGBL_HUMAN			5	1063	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		282			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	c.844C>A	CCDS9499.1																																																																																				0.458	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		74	101	0	0	0	1	0	74	101					A	102235682	C	A	102235682	2	1	345	1	0	0	0	0	0	0	0	1	7902	644	23	4		4	ITGBL1	13	102235682	Silent	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		102235682	12934196	9	5898											
CDH8	1006	broad.mit.edu	37	16	61687975	61687975	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chr16:61687975C>T	ENST00000577390.1	-	12	2891	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R646Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R646Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTTTTATGCCGCCGTAGAGT	0.393																																						uc002eog.2																			2	Substitution - Missense(2)	p.R646Q(2)|p.R646L(2)	ovary(1)|lung(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1936-1938)cGg>cAg		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							64	63	63					16																	61687975		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687975C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1937G>A	16.37:g.61687975C>T	ENSP00000462701:p.Arg646Gln		Somatic					p.R646Q	NM_001796	NP_001787	WXS	Illumina GAIIx	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2892	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1937G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.622957	0.96660	.	.	ENSG00000150394	ENST00000299345	T	0.78816	-1.21	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.88239	0.6383	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.87239	0.2265	10	0.42905	T	0.14	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	646	P55286	CADH8_HUMAN	Q	646	ENSP00000299345:R646Q	ENSP00000299345:R646Q	R	-	2	0	CDH8	60245476	1.000000	0.71417	0.963000	0.40424	0.943000	0.58893	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	CGG		0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	98	0	0	0	1	0	5	98					T	61687975	C	T	61687975	3	4	345	1	0	0	0	0	1	0	0	0	3116	652	23	1	466	1	CDH8	16	61687975	Missense_Mutation	SNP	C	TCGA-FE-A233-01A-11D-A14W-08		61687975	28666778	10	5899											
MAP3K15	389840	broad.mit.edu	37	X	19506981	19506981	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A233-01A-11D-A14W-08	TCGA-FE-A233-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8485acc-97ec-4ea6-9a86-debbc1bec114	c978bbee-66b4-4c0c-aa14-7667a1765dbb	g.chrX:19506981G>T	ENST00000338883.4	-	2	465	c.466C>A	c.(466-468)Cat>Aat	p.H156N	MAP3K15_ENST00000469203.2_5'Flank	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	156							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCGGTGTCATGGTACAAGATC	0.458																																						uc022btq.1																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(466-468)Cat>Aat		Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.							167	135	145					X																	19506981		1568	3582	5150	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19506981G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.466C>A	X.37:g.19506981G>T	ENSP00000345629:p.His156Asn		Somatic					p.H156N	NM_001001671	NP_001001671	WXS	Illumina GAIIx	Phase_I	Q6ZN16	M3K15_HUMAN			1	466	-	Hepatocellular(33;0.183)		156					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.466C>A		.	.	.	.	.	.	.	.	.	.	G	1.129	-0.652875	0.03480	.	.	ENSG00000180815	ENST00000338883	T	0.08193	3.12	5.34	3.16	0.36331	.	0.103596	0.64402	D	0.000004	T	0.03608	0.0103	N	0.05441	-0.05	0.43919	D	0.996564	.	.	.	.	.	.	T	0.37731	-0.9693	8	0.02654	T	1	.	9.2806	0.37727	0.2115:0.0:0.7885:0.0	.	.	.	.	N	156	ENSP00000345629:H156N	ENSP00000345629:H156N	H	-	1	0	MAP3K15	19416902	1.000000	0.71417	0.579000	0.28588	0.338000	0.28826	3.025000	0.49681	0.267000	0.21916	0.600000	0.82982	CAT		0.458	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		44	106	0	0	0	1	0	44	106					T	19506981	G	T	19506981	3	4	345	1	0	0	0	0	1	0	0	0	9249	1348	47	4	3587	4	MAP3K15	23	19506981	Missense_Mutation	SNP	G	TCGA-FE-A233-01A-11D-A14W-08		19506981	135763579	11	5900											
KIAA0754	643314	broad.mit.edu	37	1	39877399	39877399	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr1:39877399A>T	ENST00000530275.1	+	1	1249	c.1054A>T	c.(1054-1056)Aat>Tat	p.N352Y	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	352										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			TGAGCTACAGAATCAAATCTC	0.423																																						uc009vvt.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1462-1464)Aat>Tat		Homo sapiens KIAA0754 (KIAA0754), mRNA.							76	73	74					1																	39877399		1858	4099	5957	SO:0001583	missense	643314							g.chr1:39877399A>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1054A>T	1.37:g.39877399A>T	ENSP00000431179:p.Asn352Tyr		Somatic				MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	p.N488Y	NM_015038	NP_055853	WXS	Illumina GAIIx	Phase_I	O94854	K0754_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)		0	2224	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	352					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1462A>T		.	.	.	.	.	.	.	.	.	.	A	11.70	1.716721	0.30413	.	.	ENSG00000255103	ENST00000530275	D	0.85702	-2.02	5.14	4.01	0.46588	.	.	.	.	.	T	0.82217	0.4989	N	0.24115	0.695	0.09310	N	1	D	0.59767	0.986	P	0.54100	0.742	T	0.72343	-0.4322	9	0.87932	D	0	.	8.854	0.35217	0.7926:0.0:0.2074:0.0	.	352	O94854	K0754_HUMAN	Y	352	ENSP00000431179:N352Y	ENSP00000431179:N352Y	N	+	1	0	RP4-562N20.1	39649986	0.985000	0.35326	0.721000	0.30653	0.297000	0.27493	2.449000	0.44935	0.810000	0.34279	-0.256000	0.11100	AAT		0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		23	69	0	0	0	1	0	23	69					T	39877399	A	T	39877399	3	4	346	1	0	0	0	0	1	0	0	0	8192	246	9	5	1464	5	KIAA0754	1	39877399	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08		39877399	209373222	1	5901											
DTNBP1	84062	broad.mit.edu	37	6	15615571	15615571	+	Missense_Mutation	SNP	A	A	G	rs149346386		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:15615571A>G	ENST00000344537.5	-	6	587	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R	DTNBP1_ENST00000355917.3_Missense_Mutation_p.C139R|DTNBP1_ENST00000338950.5_Missense_Mutation_p.C139R	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	139					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			CACTGCCCACATAAGTCTTCC	0.383									Hermansky-Pudlak syndrome																													uc003nbm.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14						c.(415-417)Tgt>Cgt		Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.		A	ARG/CYS,ARG/CYS	3,4403	6.2+/-15.9	0,3,2200	142	137	138		415,415	5.5	1.0	6	dbSNP_134	138	0,8600		0,0,4300	no	missense,missense	DTNBP1	NM_032122.4,NM_183040.2	180,180	0,3,6500	GG,GA,AA		0.0,0.0681,0.0231	probably-damaging,probably-damaging	139/352,139/304	15615571	3,13003	2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15615571A>G	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.415T>C	6.37:g.15615571A>G	ENSP00000341680:p.Cys139Arg		Somatic				DTNBP1_uc003nbl.3_Missense_Mutation_p.C58R|DTNBP1_uc010jph.3_Missense_Mutation_p.C126R|DTNBP1_uc003nbp.3_Missense_Mutation_p.C139R	p.C139R	NM_032122	NP_115498	WXS	Illumina GAIIx	Phase_I	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		5	604	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	139					A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.415T>C	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789153	0.70337	6.81E-4	0.0	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.34667	1.35;1.35;1.39	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000007	T	0.52141	0.1716	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.76575	0.979;0.988;0.977	T	0.58864	-0.7561	10	0.72032	D	0.01	-15.6348	14.5774	0.68258	1.0:0.0:0.0:0.0	.	139;139;139	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	R	139;139;58;104;139;139	ENSP00000341680:C139R;ENSP00000348183:C139R;ENSP00000344718:C139R	ENSP00000344718:C139R	C	-	1	0	DTNBP1	15723550	1.000000	0.71417	0.985000	0.45067	0.972000	0.66771	6.457000	0.73505	2.089000	0.63090	0.533000	0.62120	TGT		0.383	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		4	91	0	0	0	1	0	4	91					G	15615571	A	G	15615571	3	3	346	1	0	0	0	0	1	0	0	0	4790	217	8	3	761	3	DTNBP1	6	15615571	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08		15615571	155499496	2	5902											
MUC21	394263	broad.mit.edu	37	6	30954379	30954379	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr6:30954379A>T	ENST00000376296.3	+	2	668	c.427A>T	c.(427-429)Acc>Tcc	p.T143S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	143	28 X 15 AA approximate tandem repeats.|Ser-rich.			T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGCACAACCTCCAGTGG	0.617																																						uc003nsh.2																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(427-429)Acc>Tcc		Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.							156	147	150					6																	30954379		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954379A>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.427A>T	6.37:g.30954379A>T	ENSP00000365473:p.Thr143Ser		Somatic				MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.T127S	p.T143S	NM_001010909	NP_001010909	WXS	Illumina GAIIx	Phase_I	Q5SSG8	MUC21_HUMAN			1	678	+			143	T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321).		28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.427A>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	7.777	0.708617	0.15239	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.03330	3.97	3.52	-6.09	0.02145	.	.	.	.	.	T	0.00695	0.0023	L	0.29908	0.895	0.09310	N	1	B	0.27932	0.194	B	0.29785	0.107	T	0.47898	-0.9081	8	.	.	.	0.0862	2.0111	0.03488	0.3233:0.1595:0.383:0.1342	.	143	Q5SSG8	MUC21_HUMAN	S	143	ENSP00000365473:T143S	.	T	+	1	0	MUC21	31062358	0.026000	0.19158	0.000000	0.03702	0.000000	0.00434	0.077000	0.14738	-1.041000	0.03266	-4.622000	0.00004	ACC		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		11	251	0	0	0	1	0	11	251					T	30954379	A	T	30954379	3	4	346	1	0	0	0	0	1	0	0	0	9977	43	2	5	433	5	MUC21	6	30954379	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	15338808	30954379	140160688	3	5903											
TRRAP	8295	broad.mit.edu	37	7	98501102	98501102	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:98501102T>C	ENST00000359863.4	+	12	1207	c.998T>C	c.(997-999)aTt>aCt	p.I333T	TRRAP_ENST00000355540.3_Missense_Mutation_p.I333T|TRRAP_ENST00000446306.3_Missense_Mutation_p.I333T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	333					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCTTCTGATTGCTGCCAAA	0.488																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(997-999)aTt>aCt		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							200	173	182					7																	98501102		2203	4300	6503	SO:0001583	missense	8295				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98501102T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.998T>C	7.37:g.98501102T>C	ENSP00000352925:p.Ile333Thr		Somatic				TRRAP_uc011kis.2_Missense_Mutation_p.I333T|TRRAP_uc003upr.3_Missense_Mutation_p.I25T	p.I333T	NM_001244580	NP_001231509	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	1207	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		333					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.998T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801318	0.70567	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.65364	3.57;-0.15	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.84326	2.69	0.80722	D	1	D;P;P	0.53462	0.96;0.932;0.932	D;P;P	0.64237	0.923;0.84;0.84	T	0.81072	-0.1098	10	0.48119	T	0.1	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	333;47;333	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	333	ENSP00000352925:I333T;ENSP00000347733:I333T	ENSP00000347733:I333T	I	+	2	0	TRRAP	98339038	1.000000	0.71417	0.899000	0.35326	0.998000	0.95712	7.915000	0.87484	2.271000	0.75665	0.533000	0.62120	ATT		0.488	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		3	111	0	0	0	1	0	3	111					C	98501102	T	C	98501102	3	2	346	1	0	0	0	0	1	0	0	0	16598	1493	52	3	1040	3	TRRAP	7	98501102	Missense_Mutation	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		98501102	60637561	4	5904											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	14	0	0	0	1	0	13	14					T	140453136	A	T	140453136	3	4	346	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	41952034	140453136	18685527	5	5905											
RAPGEF1	2889	broad.mit.edu	37	9	134455701	134455701	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr9:134455701T>C	ENST00000372189.3	-	23	3155	c.3032A>G	c.(3031-3033)aAg>aGg	p.K1011R	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K1029R|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.K1028R	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1011	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCCACCGCTTGGAGAAGTT	0.637																																						uc022bos.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3085-3087)aAg>aGg		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.							75	82	80					9																	134455701		2122	4232	6354	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity	g.chr9:134455701T>C	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.3032A>G	9.37:g.134455701T>C	ENSP00000361263:p.Lys1011Arg		Somatic				RAPGEF1_uc022bot.1_Missense_Mutation_p.K1011R	p.K1029R	NM_198679	NP_941372	WXS	Illumina GAIIx	Phase_I	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	22	3245	-		Myeloproliferative disorder(178;0.204)	1011			Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.3086A>G	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654743	0.67472	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.61274	0.12;0.12;0.12	4.65	4.65	0.58169	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.91920	3.255	0.58432	D	0.999999	D;P	0.52996	0.957;0.811	P;B	0.52646	0.705;0.331	T	0.81380	-0.0959	10	0.87932	D	0	.	13.2356	0.59967	0.0:0.0:0.0:1.0	.	1011;1029	Q13905;Q13905-3	RPGF1_HUMAN;.	R	1011;1028;957;1011;1029;991;989;1028	ENSP00000361269:K1028R;ENSP00000361263:K1011R;ENSP00000361264:K1029R	ENSP00000266110:K1011R	K	-	2	0	RAPGEF1	133445522	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.584000	0.82572	1.721000	0.51461	0.459000	0.35465	AAG		0.637	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		7	25	0	0	0	1	0	7	25					C	134455701	T	C	134455701	3	2	346	1	0	0	0	0	1	0	0	0	13043	1609	56	3	209	3	RAPGEF1	9	134455701	Missense_Mutation	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		134455701	6757730	6	5906											
OR5M3	219482	broad.mit.edu	37	11	56237294	56237294	+	Missense_Mutation	SNP	C	C	T	rs144814707	byFrequency	TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr11:56237294C>T	ENST00000312240.2	-	1	720	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	227						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(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTCTGCTGAGCGCATTCGCAG	0.418													t|||	12	0.00239617	0	0	5008	,	,		21294	0.0109		0	False		,,,				2504	0.001					uc010rjk.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(679-681)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.		T	HIS/ARG	2,4400	819.3+/-416.3	0,2,2199	60	58	59		680	-9.0	0.0	11	dbSNP_134	59	0,8584		0,0,4292	no	missense	OR5M3	NM_001004742.2	29	0,2,6491	TT,TC,CC		0.0,0.0454,0.0154	benign	227/308	56237294	2,12984	2201	4292	6493	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237294C>T	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.680G>A	11.37:g.56237294C>T	ENSP00000312208:p.Arg227His		Somatic				OR8U8_uc001nit.2_Intron	p.R227H	NM_001004742	NP_001004742	WXS	Illumina GAIIx	Phase_I	Q8NGP4	OR5M3_HUMAN			0	721	-	Esophageal squamous(21;0.00448)		227					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.680G>A	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	0.607	-0.826494	0.02734	4.54E-4	0.0	ENSG00000174937	ENST00000312240	T	0.39229	1.09	5.08	-9.04	0.00734	GPCR, rhodopsin-like superfamily (1);	0.719989	0.11980	N	0.510873	T	0.22936	0.0554	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.28299	-1.0048	10	0.13108	T	0.6	0.0056	14.5022	0.67729	0.0:0.3844:0.0:0.6156	.	227	Q8NGP4	OR5M3_HUMAN	H	227	ENSP00000312208:R227H	ENSP00000312208:R227H	R	-	2	0	OR5M3	55993870	0.000000	0.05858	0.002000	0.10522	0.121000	0.20230	-6.039000	0.00084	-2.044000	0.00911	-1.040000	0.02373	CGC		0.418	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		11	13	0	0	0	1	0	11	13					T	56237294	C	T	56237294	3	4	346	1	0	0	0	0	1	0	0	0	11175	768	27	1	245	1	OR5M3	11	56237294	Missense_Mutation	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		56237294	78769222	7	5907											
SEMA7A	8482	broad.mit.edu	37	15	74710610	74710610	+	Splice_Site	SNP	C	C	A			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr15:74710610C>A	ENST00000261918.4	-	3	919	c.371G>T	c.(370-372)cGg>cTg	p.R124L	SEMA7A_ENST00000543145.2_Intron|SEMA7A_ENST00000542748.1_5'UTR	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	124	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCCACTCACCCGCTTATCCAG	0.582																																						uc002axv.3																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.e3+1		Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.							61	55	57					15																	74710610		2197	4296	6493	SO:0001630	splice_region_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74710610C>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.372+1G>T	15.37:g.74710610C>A			Somatic				SEMA7A_uc010ulk.2_Splice_Site|SEMA7A_uc010ull.2_Intron	p.R124_splice	NM_003612	NP_001139502	WXS	Illumina GAIIx	Phase_I	O75326	SEM7A_HUMAN			3	412	-			124			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Splice_Site	SNP	ENST00000261918.4	37	c.372_splice	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204332	0.22205	.	.	ENSG00000138623	ENST00000261918	T	0.10763	2.84	4.42	-6.84	0.01687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.534590	0.03591	N	0.231788	T	0.04182	0.0116	N	0.03268	-0.37	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24548	-1.0157	10	0.39692	T	0.17	-5.9723	5.6204	0.17453	0.2363:0.1976:0.0:0.5661	.	124	O75326	SEM7A_HUMAN	L	124	ENSP00000261918:R124L	ENSP00000261918:R124L	R	-	2	0	SEMA7A	72497663	0.000000	0.05858	0.546000	0.28166	0.799000	0.45148	-2.119000	0.01324	-1.230000	0.02561	-0.150000	0.13652	CGG		0.582	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	Missense_Mutation	3	46	0	0	0	1	0	3	46					A	74710610	C	A	74710610	5	1	346	1	0	0	0	0	0	0	1	0	14043	666	23	4	1677	4	SEMA7A	15	74710610	Splice_Site	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		74710610	27820782	8	5908											
MBTPS1	8720	broad.mit.edu	37	16	84089661	84089661	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr16:84089661G>T	ENST00000343411.3	-	22	3406	c.2911C>A	c.(2911-2913)Caa>Aaa	p.Q971K		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	971					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)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCCTCACTTGAGGGCGATTC	0.493																																						uc002fhi.3																			0		p.Q971H(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2911-2913)Caa>Aaa		Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.							111	102	105					16																	84089661		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84089661G>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2911C>A	16.37:g.84089661G>T	ENSP00000344223:p.Gln971Lys		Somatic				MBTPS1_uc002fhh.3_Missense_Mutation_p.Q475K	p.Q971K	NM_003791	NP_003782	WXS	Illumina GAIIx	Phase_I	Q14703	MBTP1_HUMAN			21	3413	-			971					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.2911C>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904583	0.72868	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.28895	1.59	5.65	5.65	0.86999	.	0.192635	0.47093	D	0.000257	T	0.43433	0.1247	L	0.36672	1.1	0.80722	D	1	P	0.40332	0.713	P	0.54815	0.761	T	0.03576	-1.1023	10	0.25106	T	0.35	-13.9444	19.7405	0.96228	0.0:0.0:1.0:0.0	.	971	Q14703	MBTP1_HUMAN	K	971;416	ENSP00000344223:Q971K	ENSP00000344223:Q971K	Q	-	1	0	MBTPS1	82647162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.705000	0.98719	2.655000	0.90218	0.655000	0.94253	CAA		0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		25	67	0	0	0	1	0	25	67					T	84089661	G	T	84089661	3	4	346	1	0	0	0	0	1	0	0	0	9361	1299	45	4	255	4	MBTPS1	16	84089661	Missense_Mutation	SNP	G	TCGA-FE-A234-01A-11D-A14W-08		84089661	6265092	9	5909											
ANKRD27	84079	broad.mit.edu	37	19	33137489	33137489	+	Silent	SNP	T	T	C			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:33137489T>C	ENST00000306065.4	-	4	404	c.246A>G	c.(244-246)ttA>ttG	p.L82L	ANKRD27_ENST00000587352.1_Silent_p.L82L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	82					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)					AACCAGCTCCTAATTTAATCC	0.473																																						uc002ntn.1																			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.(244-246)ttA>ttG		Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.							74	74	74					19																	33137489		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33137489T>C	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.246A>G	19.37:g.33137489T>C			Somatic				ANKRD27_uc002nto.1_Silent_p.L82L	p.L82L	NM_032139	NP_115515	WXS	Illumina GAIIx	Phase_I	Q96NW4	ANR27_HUMAN			3	402	-	Esophageal squamous(110;0.137)		82					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.246A>G	CCDS32986.1																																																																																				0.473	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		3	53	0	0	0	1	0	3	53					C	33137489	T	C	33137489	2	2	346	1	0	0	0	0	0	0	0	1	655	1519	53	3		3	ANKRD27	19	33137489	Silent	SNP	T	TCGA-FE-A234-01A-11D-A14W-08		33137489	25991494	10	5910											
RYR1	6261	broad.mit.edu	37	19	38934209	38934209	+	Silent	SNP	C	C	T	rs139629035		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:38934209C>T	ENST00000359596.3	+	4	282	c.282C>T	c.(280-282)ggC>ggT	p.G94G	RYR1_ENST00000360985.3_Silent_p.G94G|RYR1_ENST00000355481.4_Silent_p.G94G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	94					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)	CATCCCAGGGCGGGGGACACA	0.632													C|||	1	0.000199681	0	0	5008	,	,		18288	0		0.001	False		,,,				2504	0					uc002oit.3																			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.(280-282)ggC>ggT		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)	C	,	0,4406		0,0,2203	47	45	46		282,282	-5.6	0.9	19	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	94/5039,94/5034	38934209	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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.chr19:38934209C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.282C>T	19.37:g.38934209C>T			Somatic				RYR1_uc002oiu.3_Silent_p.G94G	p.G94G	NM_000540	NP_000531	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	412	+	all_cancers(60;7.91e-06)		94					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.282C>T	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	27	0	0	0	1	0	16	27					T	38934209	C	T	38934209	2	4	346	1	0	0	0	0	0	0	0	1	13768	755	27	1		1	RYR1	19	38934209	Silent	SNP	C	TCGA-FE-A234-01A-11D-A14W-08	5796720	38934209	20194774	11	5911											
ERF	2077	broad.mit.edu	37	19	42754077	42754077	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:42754077C>T	ENST00000222329.4	-	3	432	c.275G>A	c.(274-276)cGc>cAc	p.R92H	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.R17H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	92					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGCAGAATGCGCTTGTTATA	0.478																																						uc002ote.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(274-276)cGc>cAc		Homo sapiens Ets2 repressor factor (ERF), mRNA.							284	252	263					19																	42754077		2203	4300	6503	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754077C>T	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.275G>A	19.37:g.42754077C>T	ENSP00000222329:p.Arg92His		Somatic				ERF_uc002otd.4_5'UTR	p.R92H	NM_006494	NP_006485	WXS	Illumina GAIIx	Phase_I	P50548	ERF_HUMAN			2	433	-		Prostate(69;0.00682)	92					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.275G>A	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345065	0.82022	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.55413	0.52;0.52	4.87	3.84	0.44239	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.28274	0.84	0.51233	D	0.999916	D	0.89917	1.0	D	0.91635	0.999	T	0.62062	-0.6933	10	0.87932	D	0	.	11.322	0.49428	0.0:0.9111:0.0:0.0889	.	92	P50548	ERF_HUMAN	H	92;17	ENSP00000222329:R92H;ENSP00000388173:R17H	ENSP00000222329:R92H	R	-	2	0	ERF	47445917	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.845000	0.69437	1.440000	0.47531	0.655000	0.94253	CGC		0.478	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		4	162	0	0	0	1	0	4	162					T	42754077	C	T	42754077	3	4	346	1	0	0	0	0	1	0	0	0	5221	768	27	1	1379	1	ERF	19	42754077	Missense_Mutation	SNP	C	TCGA-FE-A234-01A-11D-A14W-08	3819868	42754077	16374906	12	5912											
PPP1R15A	23645	broad.mit.edu	37	19	49377662	49377662	+	Missense_Mutation	SNP	A	A	G	rs142855954		TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:49377662A>G	ENST00000200453.5	+	2	1441	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	391	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)		TCCTGGGTCTATCAGCCAGGA	0.527																																						uc002pky.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1171-1173)tAt>tGt		Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.		A	CYS/TYR	0,4406		0,0,2203	113	112	112		1172	-0.0	0.1	19	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	missense	PPP1R15A	NM_014330.3	194	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging	391/675	49377662	2,13004	2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377662A>G	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1172A>G	19.37:g.49377662A>G	ENSP00000200453:p.Tyr391Cys		Somatic					p.Y391C	NM_014330	NP_055145	WXS	Illumina GAIIx	Phase_I	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)	1	1441	+		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)	391			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1172A>G	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524878	0.27299	0.0	2.33E-4	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.14022	2.54	4.91	-0.0188	0.13962	.	0.554222	0.15322	N	0.268477	T	0.22589	0.0545	L	0.61036	1.89	0.09310	N	0.999994	D	0.76494	0.999	D	0.63488	0.915	T	0.12967	-1.0527	10	0.66056	D	0.02	-0.6858	1.0618	0.01602	0.4201:0.166:0.0925:0.3213	.	391	O75807	PR15A_HUMAN	C	391;231;349	ENSP00000200453:Y391C	ENSP00000200453:Y391C	Y	+	2	0	PPP1R15A	54069474	0.000000	0.05858	0.127000	0.21898	0.053000	0.15095	-0.314000	0.08092	0.006000	0.14734	-0.309000	0.09137	TAT		0.527	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		4	159	0	0	0	1	0	4	159					G	49377662	A	G	49377662	3	3	346	1	0	0	0	0	1	0	0	0	12363	449	16	3	1174	3	PPP1R15A	19	49377662	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	6623585	49377662	9751321	13	5913											
NLRP4	147945	broad.mit.edu	37	19	56369469	56369469	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chr19:56369469A>G	ENST00000301295.6	+	3	1132	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	NLRP4_ENST00000587891.1_Missense_Mutation_p.Q162R|NLRP4_ENST00000346986.5_Missense_Mutation_p.Q237R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	237	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)		GAAGAGCTGCAGGGCGGCTTG	0.542																																						uc002qmd.4																			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.(709-711)cAg>cGg		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							81	83	82					19																	56369469		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369469A>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.710A>G	19.37:g.56369469A>G	ENSP00000301295:p.Gln237Arg		Somatic				NLRP4_uc002qmf.3_Missense_Mutation_p.Q162R|NLRP4_uc010etf.3_Missense_Mutation_p.Q68R	p.Q237R	NM_134444	NP_604393	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	1132	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	237			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.710A>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	9.661	1.144099	0.21205	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78246	-1.16;-1.16	4.1	-4.75	0.03239	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.43010	0.1228	N	0.04297	-0.235	0.09310	N	1	B;B;B	0.13145	0.0;0.001;0.007	B;B;B	0.15052	0.0;0.005;0.012	T	0.41448	-0.9508	9	0.07482	T	0.82	.	0.1623	0.00104	0.3151:0.2509:0.1783:0.2557	.	237;162;237	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	237	ENSP00000301295:Q237R;ENSP00000344787:Q237R	ENSP00000301295:Q237R	Q	+	2	0	NLRP4	61061281	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-1.300000	0.02341	0.533000	0.62120	CAG		0.542	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	101	0	0	0	1	0	4	101					G	56369469	A	G	56369469	3	3	346	1	0	0	0	0	1	0	0	0	10479	188	7	3	716	3	NLRP4	19	56369469	Missense_Mutation	SNP	A	TCGA-FE-A234-01A-11D-A14W-08	6991807	56369469	2759514	14	5914											
DRP2	1821	broad.mit.edu	37	X	100486665	100486665	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A234-01A-11D-A14W-08	TCGA-FE-A234-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efc43590-024c-4922-a515-5df321643d4f	b583c23a-b4cb-4c53-8216-07b7f1e52f6d	g.chrX:100486665C>A	ENST00000395209.3	+	3	556	c.29C>A	c.(28-30)cCt>cAt	p.P10H	DRP2_ENST00000538510.1_Missense_Mutation_p.P10H|DRP2_ENST00000541709.1_Intron|DRP2_ENST00000402866.1_Missense_Mutation_p.P10H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	10					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGGGATGCCCTTACACCCTC	0.537																																						uc004egz.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(28-30)cCt>cAt		Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.							195	157	170					X																	100486665		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100486665C>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.29C>A	X.37:g.100486665C>A	ENSP00000378635:p.Pro10His		Somatic				DRP2_uc011mrh.1_Intron	p.P10H	NM_001939	NP_001164655	WXS	Illumina GAIIx	Phase_I	Q13474	DRP2_HUMAN			2	398	+			10					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.29C>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	c	16.65	3.182063	0.57800	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.08458	3.09;3.09;3.09	5.82	5.82	0.92795	.	0.227356	0.31415	N	0.007696	T	0.12689	0.0308	L	0.51422	1.61	0.80722	D	1	P	0.47350	0.894	B	0.43916	0.436	T	0.00438	-1.1739	10	0.87932	D	0	-3.1234	14.4284	0.67233	0.0:0.9256:0.0:0.0744	.	10	Q13474	DRP2_HUMAN	H	10	ENSP00000385038:P10H;ENSP00000378635:P10H;ENSP00000441051:P10H	ENSP00000362007:P10H	P	+	2	0	DRP2	100373321	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.538000	0.53597	2.457000	0.83068	0.597000	0.82753	CCT		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		4	181	0	0	0	1	0	4	181					A	100486665	C	A	100486665	3	1	346	1	0	0	0	0	1	0	0	0	4764	681	24	4	31	4	DRP2	23	100486665	Missense_Mutation	SNP	C	TCGA-FE-A234-01A-11D-A14W-08		100486665	54783895	15	5915											
NPR1	4881	broad.mit.edu	37	1	153660571	153660571	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr1:153660571G>A	ENST00000368680.3	+	15	2763	c.2291G>A	c.(2290-2292)cGg>cAg	p.R764Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	764	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)	CCCCCCTTCCGGCCCTCCCTG	0.657																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.4																			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.(2290-2292)cGg>cAg		Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						50	53	52					1																	153660571		2203	4299	6502	SO:0001583	missense	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.chr1:153660571G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2291G>A	1.37:g.153660571G>A	ENSP00000357669:p.Arg764Gln		Somatic				NPR1_uc010pdz.2_Missense_Mutation_p.R510Q|NPR1_uc010pea.2_Missense_Mutation_p.R242Q	p.R764Q	NM_000906	NP_000897	WXS	Illumina GAIIx	Phase_I	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		14	2712	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		764			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2291G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.327672	0.81690	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.82433	-1.61	4.02	3.11	0.35812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082914	0.46758	D	0.000261	D	0.90038	0.6889	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91150	0.4952	10	0.66056	D	0.02	.	11.2084	0.48784	0.0:0.0:0.815:0.185	.	243;764	B7Z4Y7;P16066	.;ANPRA_HUMAN	Q	764;243	ENSP00000357669:R764Q	ENSP00000357669:R764Q	R	+	2	0	NPR1	151927195	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.639000	0.83342	1.071000	0.40834	-0.372000	0.07161	CGG		0.657	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		26	44	0	0	0	1	0	26	44					A	153660571	G	A	153660571	3	1	347	1	0	0	0	0	1	0	0	0	10594	1116	39	1	2349	1	NPR1	1	153660571	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		153660571	95590050	1	5916											
KCNN3	3782	broad.mit.edu	37	1	154841828	154841828	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr1:154841828C>T	ENST00000271915.4	-	1	928	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	210					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	AGGGGTTGGCCCTCAGTCTCG	0.632																																						uc021pah.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(613-615)Ggc>Agc		Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.							49	50	49					1																	154841828		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154841828C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.613G>A	1.37:g.154841828C>T	ENSP00000271915:p.Gly205Ser		Somatic				KCNN3_uc001ffp.3_Missense_Mutation_p.G205S|KCNN3_uc009wox.1_Missense_Mutation_p.G205S	p.G205S	NM_001204087	NP_001191016	WXS	Illumina GAIIx	Phase_I	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		0	927	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		210					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.613G>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	8.386	0.838543	0.16891	.	.	ENSG00000143603	ENST00000271915	D	0.94330	-3.4	4.75	2.72	0.32119	.	0.155049	0.30649	N	0.009166	T	0.63295	0.2499	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.63989	-0.6512	10	0.02654	T	1	-20.4673	3.0661	0.06214	0.2162:0.5562:0.0:0.2275	.	211;210	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	S	205	ENSP00000271915:G205S	ENSP00000271915:G205S	G	-	1	0	KCNN3	153108452	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.351000	0.20096	1.221000	0.43506	0.561000	0.74099	GGC		0.632	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		32	33	0	0	0	1	0	32	33					T	154841828	C	T	154841828	3	4	347	1	0	0	0	0	1	0	0	0	8080	623	22	2	1636	2	KCNN3	1	154841828	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08	1181257	154841828	94408793	2	5917											
TIA1	7072	broad.mit.edu	37	2	70439917	70439917	+	Silent	SNP	C	C	T			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr2:70439917C>T	ENST00000433529.2	-	13	1305	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G	TIA1_ENST00000415783.2_Silent_p.G354G|TIA1_ENST00000482876.1_5'Flank|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Silent_p.G364G|TIA1_ENST00000445587.1_Silent_p.G264G	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	365					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGCCATTTTGCCCTTGAGGCG	0.502																																						uc002sgj.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(1093-1095)ggG>ggA		Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.							141	126	131					2																	70439917		2203	4300	6503	SO:0001819	synonymous_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70439917C>T		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.1095G>A	2.37:g.70439917C>T			Somatic				TIA1_uc002sgk.4_Silent_p.G354G|TIA1_uc002sgl.4_Non-coding_Transcript	p.G365G	NM_022173	NP_071505	WXS	Illumina GAIIx	Phase_I	P31483	TIA1_HUMAN			12	1312	-			365					Q53SS9	Silent	SNP	ENST00000433529.2	37	c.1095G>A	CCDS1901.1																																																																																				0.502	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		4	130	0	0	0	1	0	4	130					T	70439917	C	T	70439917	2	4	347	1	0	0	0	0	0	0	0	1	15884	726	26	2		2	TIA1	2	70439917	Silent	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		70439917	172759456	3	5918											
SLC2A9	56606	broad.mit.edu	37	4	9982230	9982230	+	Missense_Mutation	SNP	C	C	T	rs147289616	byFrequency	TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:9982230C>T	ENST00000264784.3	-	5	720	c.667G>A	c.(667-669)Gag>Aag	p.E223K	SLC2A9_ENST00000506583.1_Missense_Mutation_p.E194K|SLC2A9_ENST00000309065.3_Missense_Mutation_p.E194K	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	223					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCCAGCAGCTCGGGCAGGCCC	0.567																																						uc003gmc.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(667-669)Gag>Aag		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.		C	LYS/GLU,LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	61	55	57		580,667	3.8	0.8	4	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC2A9	NM_001001290.1,NM_020041.2	56,56	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	194/512,223/541	9982230	3,13003	2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982230C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.667G>A	4.37:g.9982230C>T	ENSP00000264784:p.Glu223Lys		Somatic				SLC2A9_uc003gmd.3_Missense_Mutation_p.E194K	p.E223K	NM_020041	NP_064425	WXS	Illumina GAIIx	Phase_I	Q9NRM0	GTR9_HUMAN			4	728	-			223					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.667G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742241	0.49151	4.54E-4	1.16E-4	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;D	0.87729	0.33;-1.4;0.33;-2.29	4.66	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127237	0.51477	N	0.000086	D	0.84252	0.5431	L	0.60904	1.88	0.41440	D	0.987918	B;P	0.35411	0.301;0.5	B;B	0.37198	0.112;0.243	T	0.80968	-0.1145	9	.	.	.	.	12.1394	0.53989	0.0:0.8067:0.1933:0.0	.	194;223	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	K	194;223;194;194	ENSP00000422209:E194K;ENSP00000264784:E223K;ENSP00000311383:E194K;ENSP00000426800:E194K	.	E	-	1	0	SLC2A9	9591328	0.996000	0.38824	0.784000	0.31847	0.751000	0.42716	3.454000	0.52986	0.908000	0.36671	0.650000	0.86243	GAG		0.567	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			5	49	0	0	0	1	0	5	49					T	9982230	C	T	9982230	3	4	347	1	0	0	0	0	1	0	0	0	14552	893	31	1	987	1	SLC2A9	4	9982230	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		9982230	181172046	4	5919											
FIP1L1	81608	broad.mit.edu	37	4	54310242	54310242	+	Silent	SNP	T	T	C			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:54310242T>C	ENST00000337488.6	+	15	1451	c.1257T>C	c.(1255-1257)cgT>cgC	p.R419R	FIP1L1_ENST00000306932.6_Silent_p.R345R|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Silent_p.R413R	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	419					mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGATAGTCGTTCTGCACGTG	0.303			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003hae.3				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(10-12)gTt>gCt		Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 2, mRNA.							175	164	168					4																	54310242		2203	4298	6501	SO:0001819	synonymous_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54310242T>C	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1257T>C	4.37:g.54310242T>C			Somatic				PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzy.3_Silent_p.R419R|PDGFRA_uc011bzu.2_Silent_p.R413R|PDGFRA_uc003gzz.3_Silent_p.R345R|PDGFRA_uc003hab.3_Silent_p.R384R|PDGFRA_uc010ign.3_Non-coding_Transcript	p.V4A	NM_001134937	NP_001128409	WXS	Illumina GAIIx	Phase_I	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		3	267	+			0			Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.11T>C	CCDS3491.1																																																																																				0.303	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		3	82	0	0	0	1	0	3	82					C	54310242	T	C	54310242	2	2	347	1	0	0	0	0	0	0	0	1	5896	1712	60	3		3	FIP1L1	4	54310242	Silent	SNP	T	TCGA-FE-A235-01A-11D-A16O-08	44328012	54310242	136844034	5	5920											
TMPRSS11F	389208	broad.mit.edu	37	4	68939712	68939712	+	Nonsense_Mutation	SNP	G	G	A	rs542655796		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr4:68939712G>A	ENST00000356291.2	-	4	357	c.298C>T	c.(298-300)Cga>Tga	p.R100*	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	100	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAAGAATGTCGAAATATCCTA	0.244													g|||	1	0.000199681	0	0	5008	,	,		16271	0.001		0	False		,,,				2504	0					uc003hdt.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(298-300)Cga>Tga		Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.							30	29	29					4																	68939712		2196	4293	6489	SO:0001587	stop_gained	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68939712G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.298C>T	4.37:g.68939712G>A	ENSP00000348639:p.Arg100*		Somatic				LOC550112_uc003hdl.4_Intron	p.R100*	NM_207407	NP_997290	WXS	Illumina GAIIx	Phase_I	Q6ZWK6	TM11F_HUMAN			3	347	-			100			SEA.		A8MXX2	Nonsense_Mutation	SNP	ENST00000356291.2	37	c.298C>T	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.251053	0.80135	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.53	3.8	0.43715	.	0.436137	0.19621	N	0.109909	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3813	0.38316	0.0:0.1567:0.6804:0.1629	.	.	.	.	X	100	.	ENSP00000348639:R100X	R	-	1	2	TMPRSS11F	68622307	0.664000	0.27457	0.997000	0.53966	0.573000	0.36030	0.786000	0.26844	0.695000	0.31675	-0.121000	0.15023	CGA		0.244	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		10	16	0	0	0	1	0	10	16					A	68939712	G	A	68939712	4	1	347	1	0	0	0	0	0	1	0	0	16240	1066	37	1	1046	1	TMPRSS11F	4	68939712	Nonsense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	14629470	68939712	122214564	6	5921											
PRDM9	56979	broad.mit.edu	37	5	23526762	23526762	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr5:23526762C>T	ENST00000296682.3	+	11	1747	c.1565C>T	c.(1564-1566)gCa>gTa	p.A522V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	522					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAAGAATTGCAAAAGTCAAG	0.433										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1564-1566)gCa>gTa		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							103	104	104					5																	23526762		2052	4230	6282	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526762C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1565C>T	5.37:g.23526762C>T	ENSP00000296682:p.Ala522Val	HNSCC(3;0.000094)	Somatic					p.A522V	NM_020227	NP_064612	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			10	1747	+			522					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1565C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	7.919	0.738232	0.15574	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08634	3.07	2.43	-4.86	0.03132	.	1.776670	0.03697	N	0.247961	T	0.04497	0.0123	N	0.16478	0.41	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37798	-0.9690	10	0.21014	T	0.42	1.344	3.6377	0.08155	0.1903:0.4564:0.0:0.3534	.	522	Q9NQV7	PRDM9_HUMAN	V	522;316	ENSP00000296682:A522V	ENSP00000253473:A316V	A	+	2	0	PRDM9	23562519	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	-1.173000	0.03108	-1.217000	0.02604	-0.362000	0.07510	GCA		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	71	0	0	0	1	0	5	71					T	23526762	C	T	23526762	3	4	347	1	0	0	0	0	1	0	0	0	12463	710	25	2	1603	2	PRDM9	5	23526762	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		23526762	157388498	7	5922											
STC2	8614	broad.mit.edu	37	5	172752921	172752921	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr5:172752921G>A	ENST00000265087.4	-	2	1553	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	82					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAATCCCATGTAAGCCCCGA	0.468																																						uc003mco.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(244-246)Cat>Tat		Homo sapiens stanniocalcin 2 (STC2), mRNA.							252	273	266					5																	172752921		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172752921G>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.244C>T	5.37:g.172752921G>A	ENSP00000265087:p.His82Tyr		Somatic				STC2_uc003mcn.1_5'UTR	p.H82Y	NM_003714	NP_003705	WXS	Illumina GAIIx	Phase_I	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1554	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	82						Missense_Mutation	SNP	ENST00000265087.4	37	c.244C>T	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.86|18.86	3.712879|3.712879	0.68730|0.68730	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000265087|ENST00000520648	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.049753|.	0.85682|.	D|.	0.000000|.	T|T	0.67202|0.67202	0.2868|0.2868	L|L	0.41573|0.41573	1.285|1.285	0.53688|0.53688	D|D	0.999976|0.999976	P|.	0.40398|.	0.716|.	B|.	0.42319|.	0.383|.	T|T	0.62534|0.62534	-0.6834|-0.6834	9|5	0.12430|.	T|.	0.62|.	-12.9523|-12.9523	19.2864|19.2864	0.94072|0.94072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	82|.	O76061|.	STC2_HUMAN|.	Y|I	82|35	.|.	ENSP00000265087:H82Y|.	H|T	-|-	1|2	0|0	STC2|STC2	172685527|172685527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.468	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		12	373	0	0	0	1	0	12	373					A	172752921	G	A	172752921	3	1	347	1	0	0	0	0	1	0	0	0	15275	1377	48	2	676	2	STC2	5	172752921	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	149226159	172752921	8162339	8	5923											
SLC22A2	6582	broad.mit.edu	37	6	160664756	160664757	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr6:160664756_160664757delAT	ENST00000366953.3	-	7	1384_1385	c.1126_1127delAT	c.(1126-1128)atcfs	p.I376fs	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	376					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ATCCAGGTAGATATTGTCACCT	0.535																																						uc003qtf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1126-1128)atcfs		Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.																																				SO:0001589	frameshift_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160664756_160664757delAT	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1126_1127delAT	6.37:g.160664758_160664759delAT	ENSP00000355920:p.Ile376fs		Somatic					p.I376fs	NM_003058	NP_003049	WXS	Illumina GAIIx	Phase_I	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	6	1300_1301	-		Breast(66;0.000776)|Ovarian(120;0.0303)	376					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Frame_Shift_Del	DEL	ENST00000366953.3	37	c.1126_1127delAT	CCDS5276.1																																																																																				0.535	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		41	56						41	56	---	---	---	---	-	160664757	AT	-	160664756	7	5	347	1	0	1	0	1	0	0	0	0	14450	333	12	0	560	0	SLC22A2	6	160664756	Frame_Shift_Del	DEL	AT	TCGA-FE-A235-01A-11D-A16O-08		160664756	10450311	9	5924											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	59	0	0	0	1	0	31	59					T	140453136	A	T	140453136	3	4	347	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A235-01A-11D-A16O-08		140453136	18685527	10	5925											
IARS	3376	broad.mit.edu	37	9	95030578	95030578	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr9:95030578G>C	ENST00000375643.3	-	14	1575	c.1309C>G	c.(1309-1311)Cca>Gca	p.P437A	IARS_ENST00000447699.2_Missense_Mutation_p.P327A|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.P437A	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	437					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACCAACTCTGGGACCCTGCAA	0.418																																						uc004art.1																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1309-1311)Cca>Gca		Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	L-Isoleucine(DB00167)						135	131	133					9																	95030578		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95030578G>C	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1309C>G	9.37:g.95030578G>C	ENSP00000364794:p.Pro437Ala		Somatic				IARS_uc004ars.1_Missense_Mutation_p.P282A|IARS_uc004aru.3_Missense_Mutation_p.P437A|IARS_uc010mqr.2_Missense_Mutation_p.P327A|IARS_uc010mqt.2_Intron	p.P437A	NM_013417	NP_038203	WXS	Illumina GAIIx	Phase_I	P41252	SYIC_HUMAN			13	1566	-			437					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1309C>G	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876197	0.91664	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.53857	0.6;0.6;0.6	5.96	5.96	0.96718	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	H	0.99942	5.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93266	0.6647	10	0.87932	D	0	-13.3093	20.0142	0.97474	0.0:0.0:1.0:0.0	.	437;282	P41252;Q6P0M4	SYIC_HUMAN;.	A	437;437;327;437	ENSP00000364794:P437A;ENSP00000406448:P437A;ENSP00000415020:P327A	ENSP00000364794:P437A	P	-	1	0	IARS	94070399	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.641000	0.98458	2.831000	0.97527	0.650000	0.86243	CCA		0.418	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		15	139	0	0	0	1	0	15	139					C	95030578	G	C	95030578	3	2	347	1	0	0	0	0	1	0	0	0	7473	1232	43	4	2563	4	IARS	9	95030578	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		95030578	46182853	11	5926											
APOA4	337	broad.mit.edu	37	11	116693873	116693873	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr11:116693873delA	ENST00000357780.3	-	1	149	c.35delT	c.(34-36)ctgfs	p.L12fs		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	12					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)		GACAGCCACCAGGGCCAGGGT	0.592																																						uc001pps.1																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(34-36)ctgfs		Homo sapiens apolipoprotein A-IV (APOA4), mRNA.							139	134	135					11																	116693873		2201	4292	6493	SO:0001589	frameshift_variant	337							g.chr11:116693873delA		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.35delT	11.37:g.116693873delA	ENSP00000350425:p.Leu12fs		Somatic					p.L12fs	NM_000482	NP_000473	WXS	Illumina GAIIx	Phase_I				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)	0	139	-	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	Frame_Shift_Del	DEL	ENST00000357780.3	37	c.35delT	CCDS31681.1																																																																																				0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		107	140						107	140	---	---	---	---	-	116693873	A	-	116693873	7	5	347	1	0	1	0	1	0	0	0	0	783	188	7	0	1167	0	APOA4	11	116693873	Frame_Shift_Del	DEL	A	TCGA-FE-A235-01A-11D-A16O-08		116693873	18312643	12	5927											
CACNA1G	8913	broad.mit.edu	37	17	48680555	48680555	+	Silent	SNP	G	G	A	rs527581833		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr17:48680555G>A	ENST00000359106.5	+	21	4164	c.4164G>A	c.(4162-4164)ccG>ccA	p.P1388P	CACNA1G_ENST00000360761.4_Silent_p.P1365P|CACNA1G_ENST00000507896.1_Silent_p.P1388P|CACNA1G_ENST00000515165.1_Silent_p.P1388P|CACNA1G_ENST00000510115.1_Silent_p.P1365P|CACNA1G_ENST00000352832.5_Silent_p.P1365P|CACNA1G_ENST00000358244.5_Silent_p.P1365P|CACNA1G_ENST00000515411.1_Silent_p.P1388P|CACNA1G_ENST00000429973.2_Silent_p.P1388P|CACNA1G_ENST00000514181.1_Silent_p.P1388P|CACNA1G_ENST00000514079.1_Silent_p.P1388P|CACNA1G_ENST00000442258.2_Silent_p.P1365P|CACNA1G_ENST00000513964.1_Silent_p.P1388P|CACNA1G_ENST00000507609.1_Silent_p.P1388P|CACNA1G_ENST00000507336.1_Silent_p.P1388P|CACNA1G_ENST00000503485.1_Silent_p.P1388P|CACNA1G_ENST00000513689.2_Silent_p.P1388P|CACNA1G_ENST00000512389.1_Silent_p.P1388P|CACNA1G_ENST00000507510.2_Silent_p.P1388P|CACNA1G_ENST00000502264.1_Silent_p.P1365P|CACNA1G_ENST00000354983.4_Silent_p.P1365P|CACNA1G_ENST00000416767.4_Silent_p.P1388P|CACNA1G_ENST00000514717.1_Silent_p.P1365P|CACNA1G_ENST00000510366.1_Silent_p.P1388P|CACNA1G_ENST00000505165.1_Silent_p.P1388P|CACNA1G_ENST00000515765.1_Silent_p.P1388P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1388					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCTGCGCCCGCTCAGGTGAC	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		13777	0		0	False		,,,				2504	0					uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4162-4164)ccG>ccA		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						49	53	52					17																	48680555		2134	4245	6379	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48680555G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4164G>A	17.37:g.48680555G>A			Somatic				CACNA1G_uc002iri.1_Silent_p.P1388P|CACNA1G_uc002irj.1_Silent_p.P1365P|CACNA1G_uc002irl.1_Silent_p.P1365P|CACNA1G_uc002irm.1_Silent_p.P1365P|CACNA1G_uc002irn.1_Silent_p.P1365P|CACNA1G_uc002iro.1_Silent_p.P1365P|CACNA1G_uc002irp.1_Silent_p.P1388P|CACNA1G_uc002irq.1_Silent_p.P1365P|CACNA1G_uc002irr.1_Silent_p.P1388P|CACNA1G_uc002irs.1_Silent_p.P1388P|CACNA1G_uc002irt.1_Silent_p.P1388P|CACNA1G_uc002iru.1_Silent_p.P1365P|CACNA1G_uc002irv.1_Silent_p.P1388P|CACNA1G_uc002irw.1_Silent_p.P1365P|CACNA1G_uc002irx.1_Silent_p.P1301P|CACNA1G_uc002iry.1_Silent_p.P1301P|CACNA1G_uc002isg.1_Silent_p.P1301P|CACNA1G_uc002ish.1_Silent_p.P1301P|CACNA1G_uc002isi.1_Silent_p.P1278P|CACNA1G_uc002irz.1_Silent_p.P1301P|CACNA1G_uc002isa.1_Silent_p.P1301P|CACNA1G_uc002isd.1_Silent_p.P1301P|CACNA1G_uc002isb.1_Silent_p.P1301P|CACNA1G_uc002isc.1_Silent_p.P1301P|CACNA1G_uc002ise.1_Silent_p.P1301P|CACNA1G_uc002isf.1_Silent_p.P1301P|CACNA1G_uc002isj.3_Silent_p.P112P	p.P1388P	NM_018896	NP_061496	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		20	4536	+	Breast(11;6.7e-17)		1388					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4164G>A	CCDS45730.1																																																																																				0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		10	17	0	0	0	1	0	10	17					A	48680555	G	A	48680555	2	1	347	1	0	0	0	0	0	0	0	1	2544	1074	38	1		1	CACNA1G	17	48680555	Silent	SNP	G	TCGA-FE-A235-01A-11D-A16O-08		48680555	32514655	13	5928											
ANKRD5	63926	broad.mit.edu	37	20	10025188	10025188	+	Silent	SNP	C	C	T	rs368002362		TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chr20:10025188C>T	ENST00000378380.3	+	4	1022	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.F231F|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	231							calcium ion binding (GO:0005509)										GAGGCTTTTTCGATGTAATAA	0.358																																						uc002wno.3																			0				breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(691-693)ttC>ttT		Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	163	152	156		693,693	-0.5	1.0	20		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ANKRD5	NM_022096.4,NM_198798.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	231/777,231/777	10025188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63926						calcium ion binding	g.chr20:10025188C>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.693C>T	20.37:g.10025188C>T			Somatic				LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.F231F|ANKRD5_uc010gbz.3_Silent_p.F42F	p.F231F	NM_022096	NP_942093	WXS	Illumina GAIIx	Phase_I	Q9NU02	ANKR5_HUMAN			4	1086	+			231					B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.693C>T	CCDS13108.1																																																																																				0.358	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		4	101	0	0	0	1	0	4	101					T	10025188	C	T	10025188	2	4	347	1	0	0	0	0	0	0	0	1	676	883	31	1		1	ANKRD5	20	10025188	Silent	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		10025188	53000332	14	5929											
TRO	7216	broad.mit.edu	37	X	54954164	54954164	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:54954164C>T	ENST00000173898.7	+	11	1940	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.R141C|TRO_ENST00000399736.1_Missense_Mutation_p.R213C|TRO_ENST00000375041.2_Missense_Mutation_p.R213C|TRO_ENST00000375022.4_Missense_Mutation_p.R610C|TRO_ENST00000319167.8_Missense_Mutation_p.R610C	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	610	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R610C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGGGGCTTGCGCTCCTACCA	0.483																																						uc004dtq.3																			2	Substitution - Missense(2)	p.R610C(3)	kidney(2)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1828-1830)Cgc>Tgc		Homo sapiens trophinin (TRO), transcript variant 6, mRNA.							60	58	59					X																	54954164		2199	4300	6499	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54954164C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1828C>T	X.37:g.54954164C>T	ENSP00000173898:p.Arg610Cys		Somatic				TRO_uc004dts.3_Missense_Mutation_p.R610C|TRO_uc004dtr.3_Missense_Mutation_p.R610C|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Missense_Mutation_p.R213C|TRO_uc011mok.2_Missense_Mutation_p.R141C|TRO_uc004dtw.3_Missense_Mutation_p.R213C|TRO_uc004dtx.3_5'UTR	p.R610C	NM_001039705	NP_001034794	WXS	Illumina GAIIx	Phase_I	Q12816	TROP_HUMAN			10	1935	+			610			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1828C>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814959	0.32053	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	3.1	2.2	0.27929	.	.	.	.	.	T	0.55816	0.1944	H	0.96301	3.8	0.50632	D	0.999886	B;D;D;B	0.89917	0.155;1.0;1.0;0.155	B;D;D;B	0.97110	0.015;1.0;0.999;0.015	T	0.54642	-0.8263	9	0.87932	D	0	.	2.9059	0.05721	0.2683:0.568:0.0:0.1637	.	213;213;610;610	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	C	610;610;610;213;213;141;213	ENSP00000173898:R610C;ENSP00000318278:R610C;ENSP00000364162:R610C;ENSP00000382641:R213C;ENSP00000405126:R141C;ENSP00000364181:R213C	ENSP00000173898:R610C	R	+	1	0	TRO	54970889	0.914000	0.31030	0.716000	0.30569	0.957000	0.61999	1.178000	0.31981	0.651000	0.30788	0.513000	0.50165	CGC		0.483	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	93	0	0	0	1	0	4	93					T	54954164	C	T	54954164	3	4	347	1	0	0	0	0	1	0	0	0	16571	768	27	1	1866	1	TRO	23	54954164	Missense_Mutation	SNP	C	TCGA-FE-A235-01A-11D-A16O-08		54954164	100316396	15	5930											
DCAF12L2	340578	broad.mit.edu	37	X	125298907	125298907	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:125298907G>A	ENST00000360028.2	-	1	1027	c.1001C>T	c.(1000-1002)cCg>cTg	p.P334L	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.P334L			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGCTGGCGCGGATCCAGGAA	0.617																																						uc004euk.2																			0		p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1000-1002)cCg>cTg		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							61	65	64					X																	125298907		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298907G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1001C>T	X.37:g.125298907G>A	ENSP00000353128:p.Pro334Leu		Somatic					p.P334L	NM_001013628	NP_001013650	WXS	Illumina GAIIx	Phase_I	Q5VW00	DC122_HUMAN			0	1174	-			334					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1001C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262479	0.39995	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.58652	0.32;0.32	4.05	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.468130	0.16069	N	0.231104	T	0.37128	0.0992	N	0.13299	0.325	0.58432	D	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.14476	-1.0471	10	0.09338	T	0.73	.	13.1427	0.59444	0.0:0.0:1.0:0.0	.	334	Q5VW00	DC122_HUMAN	L	334	ENSP00000441489:P334L;ENSP00000353128:P334L	ENSP00000353128:P334L	P	-	2	0	DCAF12L2	125126588	1.000000	0.71417	0.912000	0.35992	0.809000	0.45718	3.533000	0.53561	2.263000	0.75096	0.544000	0.68410	CCG		0.617	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		49	81	0	0	0	1	0	49	81					A	125298907	G	A	125298907	3	1	347	1	0	0	0	0	1	0	0	0	4265	1116	39	1	394	1	DCAF12L2	23	125298907	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	70344743	125298907	29971653	16	5931											
PHF6	84295	broad.mit.edu	37	X	133527567	133527567	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A235-01A-11D-A16O-08	TCGA-FE-A235-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe317172-c1fd-4d34-a694-ef2be40ff0e4	93ec843a-30ab-4881-ac2a-7bfcd79d5e67	g.chrX:133527567G>T	ENST00000332070.3	+	4	479	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	PHF6_ENST00000370799.1_Missense_Mutation_p.G93C|PHF6_ENST00000370803.3_Missense_Mutation_p.G93C|PHF6_ENST00000416404.2_Missense_Mutation_p.G59C|PHF6_ENST00000370800.4_Missense_Mutation_p.G93C|PHF6_ENST00000394292.1_Missense_Mutation_p.G93C	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	93	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGCAACAATTGGTTGTGATGT	0.368			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.3				Rec	yes		X	Xq26.3	84295	"F, N, Splice, Mis"	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(277-279)Ggt>Tgt		Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.							195	168	177					X																	133527567		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133527567G>T	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.277G>T	X.37:g.133527567G>T	ENSP00000329097:p.Gly93Cys		Somatic				PHF6_uc004exk.3_Missense_Mutation_p.G93C|PHF6_uc011mvk.2_Missense_Mutation_p.G59C|PHF6_uc004exh.3_Missense_Mutation_p.G93C|PHF6_uc010nrr.3_Missense_Mutation_p.G93C|PHF6_uc004exi.3_Missense_Mutation_p.G93C	p.G93C	NM_001015877	NP_115834	WXS	Illumina GAIIx	Phase_I	Q8IWS0	PHF6_HUMAN			3	479	+	Acute lymphoblastic leukemia(192;0.000127)		93					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.277G>T	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508321	0.85282	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.983;0.998;0.989;0.989;0.939	D	0.88926	0.3369	10	0.87932	D	0	-13.8317	16.9007	0.86113	0.0:0.0:1.0:0.0	.	59;93;93;93;93	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	C	93;93;93;93;59;93	ENSP00000359839:G93C;ENSP00000329097:G93C;ENSP00000377831:G93C;ENSP00000359835:G93C;ENSP00000394480:G59C;ENSP00000359836:G93C	ENSP00000329097:G93C	G	+	1	0	PHF6	133355233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.284000	0.76573	0.523000	0.50628	GGT		0.368	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		15	167	0	0	0	1	0	15	167					T	133527567	G	T	133527567	3	4	347	1	0	0	0	0	1	0	0	0	11838	1348	47	4	287	4	PHF6	23	133527567	Missense_Mutation	SNP	G	TCGA-FE-A235-01A-11D-A16O-08	8228660	133527567	21742993	17	5932											
CIAO1	55654	broad.mit.edu	37	2	96933105	96933105	+	5'Flank	SNP	C	C	T			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:96933105C>T	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000469320.1_3'UTR|CIAO1_ENST00000488633.1_Silent_p.R62R	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GCCACCAGCGCACCGTGCGGA	0.577																																						uc002svs.3																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(184-186)cgC>cgT		Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.							124	119	121					2																	96933105		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933105C>T	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933105C>T	Exception_encountered		Somatic				TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank	p.R62R	NM_004804	NP_004795	WXS	Illumina GAIIx	Phase_I	O76071	CIAO1_HUMAN			1	391	+			62					D3DXH0	Silent	SNP	ENST00000258439.3	37	c.186C>T	CCDS2018.1																																																																																				0.577	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		58	112	0	0	0	1	0	58	112					T	96933105	C	T	96933105	1	4	348	0	1	0	0	0	0	0	0	0	3418	697	25	2		2	CIAO1	2	96933105	5'Flank	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		96933105	146266268	1	5933											
CHN1	1123	broad.mit.edu	37	2	175673728	175673728	+	Missense_Mutation	SNP	A	A	G	rs371299944		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr2:175673728A>G	ENST00000409900.3	-	11	1320	c.1007T>C	c.(1006-1008)aTc>aCc	p.I336T	CHN1_ENST00000409597.1_Missense_Mutation_p.I152T|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.I310T|CHN1_ENST00000295497.7_Missense_Mutation_p.I211T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GATAATGTTGATATCTTCATA	0.348			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1006-1008)aTc>aCc		Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.		A	THR/ILE,THR/ILE,THR/ILE	0,3754		0,0,1877	188	182	184		929,632,1007	4.8	1.0	2		184	1,8219		0,1,4109	no	missense,missense,missense	CHN1	NM_001025201.3,NM_001206602.1,NM_001822.5	89,89,89	0,1,5986	GG,GA,AA		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging	310/434,211/335,336/460	175673728	1,11973	1877	4110	5987	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	g.chr2:175673728A>G		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1007T>C	2.37:g.175673728A>G	ENSP00000386741:p.Ile336Thr		Somatic				CHN1_uc010zeq.2_Missense_Mutation_p.I310T|CHN1_uc002ujj.3_Missense_Mutation_p.I111T|CHN1_uc002ujg.3_Missense_Mutation_p.I211T	p.I336T	NM_001822	NP_001813	WXS	Illumina GAIIx	Phase_I	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		10	1348	-			336			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1007T>C	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295101	0.81025	0.0	1.22E-4	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	4.85	4.85	0.62838	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.045900	0.85682	D	0.000000	T	0.34048	0.0884	M	0.84326	2.69	0.80722	D	1	P;P;P	0.46578	0.734;0.734;0.88	P;P;P	0.54312	0.628;0.748;0.591	T	0.19582	-1.0301	10	0.66056	D	0.02	.	13.8996	0.63794	1.0:0.0:0.0:0.0	.	310;336;211	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	T	336;211;152;310;128;111;154;162	ENSP00000386741:I336T;ENSP00000295497:I211T;ENSP00000386469:I152T;ENSP00000386470:I310T;ENSP00000386322:I128T;ENSP00000411911:I111T;ENSP00000410496:I154T;ENSP00000409798:I162T	ENSP00000295497:I211T	I	-	2	0	CHN1	175381974	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	1.942000	0.56320	0.374000	0.22700	ATC		0.348	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		21	117	0	0	0	1	0	21	117					G	175673728	A	G	175673728	3	3	348	1	0	0	0	0	1	0	0	0	3362	333	12	3	384	3	CHN1	2	175673728	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08	78740623	175673728	67525645	2	5934											
ZBBX	79740	broad.mit.edu	37	3	167051707	167051707	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr3:167051707C>T	ENST00000392766.2	-	10	935	c.595G>A	c.(595-597)Gat>Aat	p.D199N	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.D199N|ZBBX_ENST00000392764.1_Missense_Mutation_p.D170N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D199N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D199N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	199						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGGGTTCATCTGGATTAACA	0.338																																						uc011bpc.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(595-597)Gat>Aat		Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.							127	113	118					3																	167051707		1804	4072	5876	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167051707C>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.595G>A	3.37:g.167051707C>T	ENSP00000376519:p.Asp199Asn		Somatic				ZBBX_uc003feq.3_Missense_Mutation_p.D170N|ZBBX_uc003fep.3_Missense_Mutation_p.D199N	p.D199N	NM_001199201	NP_001186130	WXS	Illumina GAIIx	Phase_I	A8MT70	ZBBX_HUMAN			9	932	-			199					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.595G>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685647	0.29962	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11277	2.96;2.96;2.96;2.96;2.79	4.66	3.77	0.43336	.	.	.	.	.	T	0.13500	0.0327	L	0.47716	1.5	0.23076	N	0.998331	P;P	0.44429	0.835;0.745	P;B	0.44477	0.451;0.247	T	0.08889	-1.0700	9	0.39692	T	0.17	-2.2164	10.9347	0.47239	0.0:0.793:0.207:0.0	.	199;199	A8MT70-2;A8MT70	.;ZBBX_HUMAN	N	199;199;199;199;170	ENSP00000376519:D199N;ENSP00000376520:D199N;ENSP00000390232:D199N;ENSP00000305065:D199N;ENSP00000376517:D170N	ENSP00000305065:D199N	D	-	1	0	ZBBX	168534401	0.997000	0.39634	0.973000	0.42090	0.187000	0.23431	1.131000	0.31406	1.040000	0.40099	0.650000	0.86243	GAT		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		26	31	0	0	0	1	0	26	31					T	167051707	C	T	167051707	3	4	348	1	0	0	0	0	1	0	0	0	17513	913	32	2	1855	2	ZBBX	3	167051707	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		167051707	30970723	3	5935											
BRIX1	55299	broad.mit.edu	37	5	34923115	34923115	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr5:34923115G>A	ENST00000336767.5	+	7	883	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	174	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GGCTTTTGATGAATTACCACA	0.279																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(520-522)Gaa>Aaa		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							127	139	135					5																	34923115		2199	4298	6497	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding	g.chr5:34923115G>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"brix domain containing 2"	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.520G>A	5.37:g.34923115G>A	ENSP00000338862:p.Glu174Lys		Somatic				BRIX1_uc011col.1_3'UTR	p.E174K	NM_018321	NP_060791	WXS	Illumina GAIIx	Phase_I	Q8TDN6	BRX1_HUMAN			6	544	+			174			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.520G>A	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867052	0.17250	.	.	ENSG00000113460	ENST00000336767	T	0.22336	1.96	5.65	4.75	0.60458	Brix domain (3);Anticodon-binding (1);	0.536759	0.21346	N	0.076059	T	0.08714	0.0216	N	0.04132	-0.27	0.29276	N	0.870379	B	0.02656	0.0	B	0.06405	0.002	T	0.17561	-1.0365	10	0.08179	T	0.78	-23.3206	11.2312	0.48914	0.0:0.2344:0.6401:0.1255	.	174	Q8TDN6	BRX1_HUMAN	K	174	ENSP00000338862:E174K	ENSP00000338862:E174K	E	+	1	0	BRIX1	34958872	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.559000	0.36320	2.941000	0.99782	0.655000	0.94253	GAA		0.279	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		44	85	0	0	0	1	0	44	85					A	34923115	G	A	34923115	3	1	348	1	0	0	0	0	1	0	0	0	1515	1291	45	2	546	2	BRIX1	5	34923115	Missense_Mutation	SNP	G	TCGA-FE-A236-01A-11D-A16O-08		34923115	145992145	4	5936											
RBM16	22828	broad.mit.edu	37	6	155145452	155145452	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr6:155145452A>G	ENST00000367178.3	+	17	2587	c.2011A>G	c.(2011-2013)Agt>Ggt	p.S671G	SCAF8_ENST00000417268.1_Missense_Mutation_p.S671G|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Missense_Mutation_p.S737G	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	671	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCCTGGATTCAGTCCAATCCC	0.443																																						uc011efj.2																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(2209-2211)Agt>Ggt		Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.							190	187	188					6																	155145452		2203	4300	6503	SO:0001583	missense	22828				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding	g.chr6:155145452A>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2011A>G	6.37:g.155145452A>G	ENSP00000356146:p.Ser671Gly		Somatic				SCAF8_uc011efk.2_Missense_Mutation_p.S716G|SCAF8_uc003qqa.3_Missense_Mutation_p.S671G|SCAF8_uc003qpz.3_Missense_Mutation_p.S671G|SCAF8_uc010kji.3_Missense_Mutation_p.S692G	p.S737G	NM_014892	NP_055707	WXS	Illumina GAIIx	Phase_I	Q9UPN6	SCAF8_HUMAN			18	2254	+			671			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2209A>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472317	0.43942	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.42513	0.99;0.99;0.97	5.27	4.09	0.47781	.	0.320592	0.29676	U	0.011495	T	0.08935	0.0221	N	0.11560	0.145	0.28442	N	0.916767	B;B;P;B	0.42692	0.0;0.055;0.787;0.028	B;B;B;B	0.40534	0.002;0.031;0.332;0.017	T	0.05273	-1.0895	10	0.19147	T	0.46	.	6.5515	0.22436	0.7892:0.0:0.0748:0.1361	.	716;737;749;671	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	G	671;671;737	ENSP00000356146:S671G;ENSP00000413098:S671G;ENSP00000356154:S737G	ENSP00000356146:S671G	S	+	1	0	SCAF8	155187144	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	3.127000	0.50484	1.986000	0.57962	0.528000	0.53228	AGT		0.443	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		67	88	0	0	0	1	0	67	88					G	155145452	A	G	155145452	3	3	348	1	0	0	0	0	1	0	0	0	13118	188	7	3	2077	3	RBM16	6	155145452	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08		155145452	15969615	5	5937											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	46	0	0	0	1	0	38	46					T	140453136	A	T	140453136	3	4	348	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A236-01A-11D-A16O-08		140453136	18685527	6	5938											
KCNK18	338567	broad.mit.edu	37	10	118960781	118960781	+	Missense_Mutation	SNP	C	C	T	rs199813258		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr10:118960781C>T	ENST00000334549.1	+	2	335	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	112					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTGCTGCACGGTGTTCAGC	0.562													C|||	1	0.000199681	0	0	5008	,	,		19208	0.001		0	False		,,,				2504	0					uc010qsr.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(334-336)aCg>aTg		Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.							133	105	115					10																	118960781		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118960781C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.335C>T	10.37:g.118960781C>T	ENSP00000334650:p.Thr112Met		Somatic					p.T112M	NM_181840	NP_862823	WXS	Illumina GAIIx	Phase_I	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	335	+		Colorectal(252;0.19)	112					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.335C>T	CCDS7598.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.08	3.543225	0.65198	.	.	ENSG00000186795	ENST00000334549	T	0.34072	1.38	4.27	4.27	0.50696	Ion transport 2 (1);	0.051872	0.85682	D	0.000000	T	0.61464	0.2349	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.68511	-0.5389	10	0.72032	D	0.01	.	16.9723	0.86303	0.0:1.0:0.0:0.0	.	112	Q7Z418	KCNKI_HUMAN	M	112	ENSP00000334650:T112M	ENSP00000334650:T112M	T	+	2	0	KCNK18	118950771	1.000000	0.71417	0.954000	0.39281	0.918000	0.54935	5.866000	0.69590	2.656000	0.90262	0.655000	0.94253	ACG		0.562	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		31	61	0	0	0	1	0	31	61					T	118960781	C	T	118960781	3	4	348	1	0	0	0	0	1	0	0	0	8065	536	19	1	341	1	KCNK18	10	118960781	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		118960781	16573966	7	5939											
TMEM100	55273	broad.mit.edu	37	17	53798052	53798052	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr17:53798052G>T	ENST00000575734.1	-	4	1188	c.380C>A	c.(379-381)gCa>gAa	p.A127E	TMEM100_ENST00000424486.2_Missense_Mutation_p.A127E|TMEM100_ENST00000570586.1_5'Flank	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	127					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCTCTGATTTGCCACGAGAGC	0.483																																						uc002iuj.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						c.(379-381)gCa>gAa		Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.							108	104	106					17																	53798052		2203	4300	6503	SO:0001583	missense	55273					integral to membrane		g.chr17:53798052G>T	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.380C>A	17.37:g.53798052G>T	ENSP00000465638:p.Ala127Glu		Somatic				TMEM100_uc002iuk.4_Missense_Mutation_p.A127E|TMEM100_uc021uai.1_Missense_Mutation_p.A127E	p.A127E	NM_018286	NP_060756	WXS	Illumina GAIIx	Phase_I	Q9NV29	TM100_HUMAN			1	691	-			127					D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	c.380C>A	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579653	0.46006	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.53	-3.73	0.04398	.	0.447215	0.26688	N	0.023005	T	0.34221	0.0890	L	0.42245	1.32	0.28618	N	0.908332	P	0.46512	0.879	P	0.45829	0.494	T	0.43180	-0.9407	9	0.42905	T	0.14	-13.6276	11.8928	0.52638	0.5538:0.0:0.4462:0.0	.	127	Q9NV29	TM100_HUMAN	E	127	.	ENSP00000299377:A127E	A	-	2	0	TMEM100	51153051	0.582000	0.26749	0.036000	0.18154	0.689000	0.40095	0.891000	0.28309	-0.412000	0.07519	0.655000	0.94253	GCA		0.483	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		20	101	0	0	0	1	0	20	101					T	53798052	G	T	53798052	3	4	348	1	0	0	0	0	1	0	0	0	16012	1319	46	4	28	4	TMEM100	17	53798052	Missense_Mutation	SNP	G	TCGA-FE-A236-01A-11D-A16O-08		53798052	27397158	8	5940											
PEG3	5178	broad.mit.edu	37	19	57328594	57328594	+	Missense_Mutation	SNP	C	C	T	rs553693488		TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr19:57328594C>T	ENST00000326441.9	-	10	1579	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D406N|PEG3_ENST00000593695.1_Missense_Mutation_p.D280N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D282N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	406					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTTTTGATCGTGAATCGAG	0.488																																						uc002qnu.2																			0		p.H405H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1216-1218)Gat>Aat		Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.							127	130	129					19																	57328594		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328594C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1216G>A	19.37:g.57328594C>T	ENSP00000326581:p.Asp406Asn		Somatic				PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D377N|PEG3_uc002qnv.2_Missense_Mutation_p.D406N|PEG3_uc002qnw.2_Missense_Mutation_p.D282N|PEG3_uc002qnx.2_Missense_Mutation_p.D280N|PEG3_uc010etr.2_Missense_Mutation_p.D406N	p.D406N	NM_001146186	NP_001139657	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	6	1567	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	406					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1216G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546785	0.13312	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02552	4.25;4.25	4.25	0.732	0.18283	.	0.594235	0.15182	N	0.276026	T	0.01730	0.0055	N	0.14661	0.345	.	.	.	B;B;B	0.18610	0.013;0.013;0.029	B;B;B	0.11329	0.003;0.003;0.006	T	0.34875	-0.9811	9	0.56958	D	0.05	-15.526	3.3059	0.07000	0.1657:0.4176:0.3231:0.0936	.	282;406;341	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	406;406;376	ENSP00000326581:D406N;ENSP00000403051:D406N	ENSP00000292074:D376N	D	-	1	0	ZIM2	62020406	0.000000	0.05858	0.002000	0.10522	0.195000	0.23768	-0.197000	0.09518	0.276000	0.22118	0.591000	0.81541	GAT		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			8	140	0	0	0	1	0	8	140					T	57328594	C	T	57328594	3	4	348	1	0	0	0	0	1	0	0	0	11720	884	31	1	3554	1	PEG3	19	57328594	Missense_Mutation	SNP	C	TCGA-FE-A236-01A-11D-A16O-08		57328594	1800389	9	5941											
CHGB	1114	broad.mit.edu	37	20	5903597	5903597	+	Silent	SNP	T	T	C			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr20:5903597T>C	ENST00000378961.4	+	4	1011	c.807T>C	c.(805-807)gaT>gaC	p.D269D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	269						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGAGGAAGATGCCACCTCTG	0.612																																						uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(805-807)gaT>gaC		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							43	47	45					20																	5903597		2201	4299	6500	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903597T>C		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.807T>C	20.37:g.5903597T>C			Somatic				CHGB_uc010zqz.2_5'UTR	p.D269D	NM_001819	NP_001810	WXS	Illumina GAIIx	Phase_I	P05060	SCG1_HUMAN			3	1113	+			269					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.807T>C	CCDS13092.1																																																																																				0.612	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		8	18	0	0	0	1	0	8	18					C	5903597	T	C	5903597	2	2	348	1	0	0	0	0	0	0	0	1	3339	1461	51	3		3	CHGB	20	5903597	Silent	SNP	T	TCGA-FE-A236-01A-11D-A16O-08		5903597	57121923	10	5942											
CARD10	29775	broad.mit.edu	37	22	37900249	37900250	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FE-A236-01A-11D-A16O-08	TCGA-FE-A236-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556023eb-97ef-4dc6-a350-6843eb65b72b	7c4727fb-54fb-4006-9438-8a1564f72634	g.chr22:37900249_37900250delGG	ENST00000403299.1	-	10	1793_1794	c.1577_1578delCC	c.(1576-1578)cccfs	p.P526fs	CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	526					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGGG	0.644																																						uc003asx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1576-1578)cccfs		Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.																																				SO:0001589	frameshift_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37900249_37900250delGG	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1577_1578delCC	22.37:g.37900253_37900254delGG	ENSP00000384570:p.Pro526fs		Somatic				CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs	p.P526fs	NM_014550	NP_055365	WXS	Illumina GAIIx	Phase_I	Q9BWT7	CAR10_HUMAN			8	1594_1595	-	Melanoma(58;0.0574)		526					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Frame_Shift_Del	DEL	ENST00000403299.1	37	c.1577_1578delCC	CCDS13948.1																																																																																				0.644	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		2	4						2	4	---	---	---	---	-	37900250	GG	-	37900249	7	5	348	1	0	1	0	1	0	0	0	0	2644	1335	47	0	1568	0	CARD10	22	37900249	Frame_Shift_Del	DEL	GG	TCGA-FE-A236-01A-11D-A16O-08		37900249	13404317	11	5943											
RCC1	1104	broad.mit.edu	37	1	28863397	28863397	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr1:28863397C>T	ENST00000373833.6	+	12	1361	c.1076C>T	c.(1075-1077)gCt>gTt	p.A359V	RCC1_ENST00000373831.3_Missense_Mutation_p.A390V|RCC1_ENST00000373832.1_Missense_Mutation_p.A359V|RCC1_ENST00000398958.2_Missense_Mutation_p.A359V			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	359					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGGTATGCTGTGACCAAG	0.587																																						uc001bqf.2																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(1168-1170)gCt>gTt		Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 1, mRNA.							148	148	148					1																	28863397		2203	4300	6503	SO:0001583	missense	1104				G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding	g.chr1:28863397C>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1076C>T	1.37:g.28863397C>T	ENSP00000362939:p.Ala359Val		Somatic				RCC1_uc001bqb.2_Missense_Mutation_p.A359V|RCC1_uc001bqa.2_Missense_Mutation_p.A359V|RCC1_uc001bqc.2_Missense_Mutation_p.A359V|RCC1_uc001bqe.2_Missense_Mutation_p.A376V|RCC1_uc001bqg.2_Missense_Mutation_p.A359V	p.A390V	NM_001048194	NP_001041659	WXS	Illumina GAIIx	Phase_I	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	9	1254	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	359					Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.1169C>T	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619534	0.96649	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.99	D;P;P	0.67231	0.95;0.906;0.752	D	0.94291	0.7528	10	0.87932	D	0	-10.8781	18.6252	0.91334	0.0:1.0:0.0:0.0	.	390;376;359	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	V	359;359;359;390	ENSP00000381931:A359V;ENSP00000362939:A359V;ENSP00000362938:A359V;ENSP00000362937:A390V	ENSP00000362937:A390V	A	+	2	0	RCC1	28735984	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.783000	0.85696	2.741000	0.93983	0.655000	0.94253	GCT		0.587	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		4	192	0	0	0	1	0	4	192					T	28863397	C	T	28863397	3	4	349	1	0	0	0	0	1	0	0	0	13173	797	28	2	1203	2	RCC1	1	28863397	Missense_Mutation	SNP	C	TCGA-FE-A237-01A-11D-A16O-08		28863397	220387224	1	5944											
ZNF502	91392	broad.mit.edu	37	3	44763193	44763193	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr3:44763193A>G	ENST00000296091.4	+	4	1140	c.884A>G	c.(883-885)tAc>tGc	p.Y295C	ZNF502_ENST00000436624.2_Missense_Mutation_p.Y295C|ZNF502_ENST00000449836.1_Missense_Mutation_p.Y295C	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	295					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAGAAGCCTTACATATGCAGT	0.398																																						uc011baa.2																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(883-885)tAc>tGc		Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.							194	200	198					3																	44763193		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763193A>G	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.884A>G	3.37:g.44763193A>G	ENSP00000296091:p.Tyr295Cys		Somatic				ZNF502_uc003cns.3_Missense_Mutation_p.Y295C|ZNF502_uc011bab.2_Missense_Mutation_p.Y295C|ZNF502_uc003cnt.3_Missense_Mutation_p.Y295C	p.Y295C	NM_001134440	NP_149987	WXS	Illumina GAIIx	Phase_I	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	3	1139	+			295						Missense_Mutation	SNP	ENST00000296091.4	37	c.884A>G	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.10|12.10	1.836290|1.836290	0.32421|0.32421	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.25414	.|1.8;1.8;1.8	4.27|4.27	3.01|3.01	0.34805|0.34805	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.49440|0.49440	0.1557|0.1557	M|M	0.85462|0.85462	2.755|2.755	0.26694|0.26694	N|N	0.971293|0.971293	.|D	.|0.89917	.|1.0	.|D	.|0.73380	.|0.98	T|T	0.34700|0.34700	-0.9818|-0.9818	6|9	0.27785|0.87932	T|D	0.31|0	-18.028|-18.028	6.0218|6.0218	0.19632|0.19632	0.6787:0.163:0.0:0.1583|0.6787:0.163:0.0:0.1583	.|.	.|295	.|Q8TBZ5	.|ZN502_HUMAN	A|C	295|295	.|ENSP00000397390:Y295C;ENSP00000296091:Y295C;ENSP00000406469:Y295C	ENSP00000397812:T295A|ENSP00000296091:Y295C	T|Y	+|+	1|2	0|0	ZNF502|ZNF502	44738197|44738197	0.000000|0.000000	0.05858|0.05858	0.881000|0.881000	0.34555|0.34555	0.522000|0.522000	0.34438|0.34438	-0.431000|-0.431000	0.06965|0.06965	1.931000|1.931000	0.55961|0.55961	0.533000|0.533000	0.62120|0.62120	ACA|TAC		0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		7	330	0	0	0	1	0	7	330					G	44763193	A	G	44763193	3	3	349	1	0	0	0	0	1	0	0	0	17947	391	14	3	890	3	ZNF502	3	44763193	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		44763193	153259237	2	5945											
CD200R1	131450	broad.mit.edu	37	3	112644003	112644004	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr3:112644003_112644004TG>AA	ENST00000471858.1	-	5	969_970	c.737_738CA>TT	c.(736-738)cCA>cTT	p.P246L	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.P269L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	246					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGATGATATATGGAATATATAA	0.297																																						uc003dzj.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(805-807)cca>cTT		Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.																																				SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112644003_112644004TG>AA	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.737_738delinsAA	3.37:g.112644003_112644004delinsAA	ENSP00000418928:p.Pro246Leu		Somatic				CD200R1_uc003dzk.1_Missense_Mutation_p.P246L|CD200R1_uc011bhx.1_Intron	p.P269L	NM_138806	NP_620161	WXS	Illumina GAIIx	Phase_I	Q8TD46	MO2R1_HUMAN			5	1039_1040	-			246					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	DNP	ENST00000471858.1	37	c.806_807CA>TT	CCDS2970.1																																																																																				0.297	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		5	62	0	0	0	1	0	5	62					AA	112644004	TG	AA	112644003	3	1	349	1	0	0	0	0	1	0	0	0	2981	1451	51	5	251	5	CD200R1	3	112644003	Missense_Mutation	DNP	TG	TCGA-FE-A237-01A-11D-A16O-08	67880810	112644003	85378427	3	5946											
CRIPAK	285464	broad.mit.edu	37	4	1389546	1389546	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr4:1389546A>G	ENST00000324803.4	+	1	4207	c.1247A>G	c.(1246-1248)gAc>gGc	p.D416G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	416	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCGAGTCAGACGCTGTTACC	0.502																																						uc003gdf.2																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1246-1248)gAc>gGc		Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.							156	150	152					4																	1389546		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389546A>G	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1247A>G	4.37:g.1389546A>G	ENSP00000323978:p.Asp416Gly		Somatic					p.D416G	NM_175918	NP_787114	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		0	4207	+			416			Interaction with PAK1.		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1247A>G	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	8.106	0.777821	0.16120	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.25912	1.77	0.789	-0.554	0.11811	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	P	0.34977	0.478	B	0.23716	0.048	T	0.19451	-1.0305	9	0.87932	D	0	.	2.8914	0.05677	0.663:0.0:0.337:0.0	.	416	Q8N1N5	CRPAK_HUMAN	G	416;358	ENSP00000323978:D416G	ENSP00000323978:D416G	D	+	2	0	CRIPAK	1379546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.288000	0.08377	-0.206000	0.10203	-0.379000	0.06801	GAC		0.502	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		3	95	0	0	0	1	0	3	95					G	1389546	A	G	1389546	3	3	349	1	0	0	0	0	1	0	0	0	3877	275	10	3	1249	3	CRIPAK	4	1389546	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		1389546	189764730	4	5947											
ZNF451	26036	broad.mit.edu	37	6	57012664	57012664	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr6:57012664A>G	ENST00000370706.4	+	10	2025	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G	RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D594G|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D594G	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTTATTGATCATTCCCCG	0.408																																						uc003pdm.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1780-1782)gAt>gGt		Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.							117	114	115					6																	57012664		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012664A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1781A>G	6.37:g.57012664A>G	ENSP00000359740:p.Asp594Gly		Somatic				ZNF451_uc003pdl.3_Missense_Mutation_p.D594G|ZNF451_uc003pdn.1_Missense_Mutation_p.D594G|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.D594G	p.D594G	NM_001031623	NP_001026794	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		9	2005	+	Lung NSC(77;0.145)		594					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1781A>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	5.458	0.269669	0.10349	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18657	2.21;2.2;2.2	5.41	4.13	0.48395	.	0.372450	0.25089	N	0.033240	T	0.06872	0.0175	L	0.44542	1.39	0.23101	N	0.998291	B;B;B;B	0.33171	0.4;0.172;0.105;0.172	B;B;B;B	0.28011	0.085;0.039;0.058;0.039	T	0.15009	-1.0452	10	0.25751	T	0.34	-11.8209	11.4721	0.50275	0.8565:0.0:0.0:0.1435	.	594;594;594;594	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	G	594	ENSP00000359740:D594G;ENSP00000350083:D594G;ENSP00000421645:D594G	ENSP00000350083:D594G	D	+	2	0	ZNF451	57120623	0.966000	0.33281	0.925000	0.36789	0.116000	0.19942	2.367000	0.44213	2.047000	0.60756	0.528000	0.53228	GAT		0.408	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		3	73	0	0	0	1	0	3	73					G	57012664	A	G	57012664	3	3	349	1	0	0	0	0	1	0	0	0	17919	333	12	3	1819	3	ZNF451	6	57012664	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		57012664	114102403	5	5948											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	51	0	0	0	1	0	27	51					T	140453136	A	T	140453136	3	4	349	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A237-01A-11D-A16O-08		140453136	18685527	6	5949											
DNAH2	146754	broad.mit.edu	37	17	7667276	7667276	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr17:7667276G>A	ENST00000572933.1	+	19	4566	c.3106G>A	c.(3106-3108)Gcg>Acg	p.A1036T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A1036T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1036	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(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)				GAACAAGTTCGCGACTCTGCT	0.592																																						uc002giu.1																			0				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.(3106-3108)Gcg>Acg		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							87	79	81					17																	7667276		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.chr17:7667276G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3106G>A	17.37:g.7667276G>A	ENSP00000458355:p.Ala1036Thr		Somatic					p.A1036T	NM_020877	NP_065928	WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			17	3120	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1036			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.3106G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	5.657	0.305766	0.10733	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.46819	0.86	4.9	2.68	0.31781	.	0.063063	0.64402	N	0.000009	T	0.08582	0.0213	N	0.00027	-2.65	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07443	-1.0772	10	0.14252	T	0.57	.	8.2128	0.31494	0.8285:0.0:0.1715:0.0	.	1036	Q9P225	DYH2_HUMAN	T	1036	ENSP00000373825:A1036T	ENSP00000353818:A1036T	A	+	1	0	DNAH2	7608001	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.317000	0.65822	0.699000	0.31761	-0.417000	0.06048	GCG		0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	48	0	0	0	1	0	5	48					A	7667276	G	A	7667276	3	1	349	1	0	0	0	0	1	0	0	0	4602	1087	38	1	3176	1	DNAH2	17	7667276	Missense_Mutation	SNP	G	TCGA-FE-A237-01A-11D-A16O-08		7667276	73527934	7	5950											
PSG8	440533	broad.mit.edu	37	19	43259223	43259223	+	Missense_Mutation	SNP	C	C	G			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chr19:43259223C>G	ENST00000306511.4	-	4	1002	c.905G>C	c.(904-906)aGa>aCa	p.R302T	PSG8_ENST00000406636.3_Missense_Mutation_p.R180T|PSG8_ENST00000404209.4_Missense_Mutation_p.R302T|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.R209T	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	302	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTTTCATTTCTCGTGACACT	0.478																																						uc002ouo.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(904-906)aGa>aCa		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.							137	137	137					19																	43259223		2203	4298	6501	SO:0001583	missense	440533					extracellular region		g.chr19:43259223C>G	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.905G>C	19.37:g.43259223C>G	ENSP00000305005:p.Arg302Thr		Somatic				PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R302T|PSG8_uc010ein.3_Missense_Mutation_p.R180T|PSG3_uc002oun.3_Intron	p.R302T	NM_182707	NP_874366	WXS	Illumina GAIIx	Phase_I	Q9UQ74	PSG8_HUMAN			3	1003	-		Prostate(69;0.00899)	302			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.905G>C	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.626	-0.819037	0.02776	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	1.38	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36331	0.0963	M	0.91510	3.215	0.09310	N	0.999996	D;D;D;B;D;D	0.89917	0.995;1.0;1.0;0.174;0.975;0.98	D;D;D;B;P;P	0.97110	0.948;1.0;0.994;0.264;0.848;0.906	T	0.35001	-0.9806	9	0.13853	T	0.58	.	6.1171	0.20132	0.0:1.0:0.0:0.0	.	180;209;302;209;302;302	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	T	302;180;209;114;209;302	ENSP00000385869:R302T;ENSP00000385081:R180T;ENSP00000386090:R209T;ENSP00000305005:R302T	ENSP00000305005:R302T	R	-	2	0	PSG8	47951063	0.237000	0.23815	0.241000	0.24154	0.018000	0.09664	1.918000	0.40006	0.731000	0.32448	0.298000	0.19748	AGA		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			22	210	0	0	0	1	0	22	210					G	43259223	C	G	43259223	3	3	349	1	0	0	0	0	1	0	0	0	12661	913	32	4	404	4	PSG8	19	43259223	Missense_Mutation	SNP	C	TCGA-FE-A237-01A-11D-A16O-08		43259223	15869760	8	5951											
TSC22D3	392517	broad.mit.edu	37	X	107018377	107018377	+	5'Flank	SNP	G	G	A			TCGA-FE-A237-01A-11D-A16O-08	TCGA-FE-A237-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54b53361-ddd7-414b-9994-bc6c988a0840	27780227-aefb-43bc-b57a-a2d7298bb0a2	g.chrX:107018377G>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000514426.1_Silent_p.N23N|TSC22D3_ENST00000372383.4_Silent_p.N91N|TSC22D3_ENST00000315660.4_Silent_p.N91N|TSC22D3_ENST00000372384.2_Silent_p.N91N|TSC22D3_ENST00000506081.1_Silent_p.N91N			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						CGATGTTGCGGTTGCAGATGC	0.597																																						uc004enh.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(271-273)aaC>aaT		Homo sapiens TSC22 domain family, member 3 (TSC22D3), transcript variant 1, mRNA.							178	119	139					X																	107018377		2203	4300	6503	SO:0001631	upstream_gene_variant	1831						sequence-specific DNA binding transcription factor activity	g.chrX:107018377G>A			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"RNA binding motif (RRM) containing"	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018377G>A	Exception_encountered		Somatic				TSC22D3_uc004eni.3_Silent_p.N91N|TSC22D3_uc004enj.3_Silent_p.N91N	p.N91N	NM_198057	NP_932174	WXS	Illumina GAIIx	Phase_I	Q99576	T22D3_HUMAN			0	641	-			0			Leucine-zipper.			Silent	SNP	ENST00000509000.2	37	c.273C>T																																																																																					0.597	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		4	107	0	0	0	1	0	4	107					A	107018377	G	A	107018377	1	1	349	0	1	0	0	0	0	0	0	0	16606	1252	44	2		2	TSC22D3	23	107018377	5'Flank	SNP	G	TCGA-FE-A237-01A-11D-A16O-08		107018377	48252183	9	5952											
STRN	6801	broad.mit.edu	37	2	37088300	37088300	+	Silent	SNP	G	G	C			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr2:37088300G>C	ENST00000263918.4	-	13	1652	c.1644C>G	c.(1642-1644)ccC>ccG	p.P548P	STRN_ENST00000379213.2_Silent_p.P499P	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	548					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGTCGATGTTGGGATTAGTGG	0.408																																						uc002rpn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1642-1644)ccC>ccG		Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.							166	136	146					2																	37088300		2203	4300	6503	SO:0001819	synonymous_variant	6801				Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37088300G>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1644C>G	2.37:g.37088300G>C			Somatic				STRN_uc010ezx.3_Silent_p.P511P	p.P548P	NM_003162	NP_003153	WXS	Illumina GAIIx	Phase_I	O43815	STRN_HUMAN			12	1653	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	548					Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	c.1644C>G	CCDS1784.1																																																																																				0.408	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			3	35	0	0	0	1	0	3	35					C	37088300	G	C	37088300	2	2	350	1	0	0	0	0	0	0	0	1	15328	1335	47	4		4	STRN	2	37088300	Silent	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		37088300	206111073	1	5953											
PAPOLG	64895	broad.mit.edu	37	2	60988874	60988874	+	Splice_Site	SNP	A	A	G			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr2:60988874A>G	ENST00000238714.3	+	3	428		c.e3-1			NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma						mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTTTTTTATAGGCTGGTGGT	0.328																																					GBM(183;1497 2932 21839 46797)	uc002sai.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.e3-2		Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.							71	83	79					2																	60988874		2203	4300	6503	SO:0001630	splice_region_variant	64895				RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr2:60988874A>G	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.180-1A>G	2.37:g.60988874A>G			Somatic				PAPOLG_uc002saj.3_Splice_Site|PAPOLG_uc002sak.3_Splice_Site	p.R60_splice	NM_022894	NP_075045	WXS	Illumina GAIIx	Phase_I	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		3	429	+	all_hematologic(2;0.0797)		60					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Splice_Site	SNP	ENST00000238714.3	37	c.180_splice	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579692	0.28180	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.957	0.71124	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPOLG	60842378	1.000000	0.71417	0.998000	0.56505	0.046000	0.14306	8.925000	0.92832	2.092000	0.63282	0.533000	0.62120	.		0.328	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	Intron	3	40	0	0	0	1	0	3	40					G	60988874	A	G	60988874	5	3	350	1	0	0	0	0	0	0	1	0	11431	434	15	3	188	3	PAPOLG	2	60988874	Splice_Site	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08	23900574	60988874	182210499	2	5954											
CD109	135228	broad.mit.edu	37	6	74528131	74528131	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr6:74528131G>A	ENST00000287097.5	+	31	4044	c.3932G>A	c.(3931-3933)aGt>aAt	p.S1311N	CD109_ENST00000422508.2_Missense_Mutation_p.S1234N|CD109_ENST00000437994.2_Missense_Mutation_p.S1294N			Q6YHK3	CD109_HUMAN	CD109 molecule	1311					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						CCGGGTAGGAGTGGCATGGCT	0.408																																						uc003php.3																			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.(3931-3933)aGt>aAt		Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.							99	98	98					6																	74528131		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74528131G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3932G>A	6.37:g.74528131G>A	ENSP00000287097:p.Ser1311Asn		Somatic				CD109_uc003phq.3_Missense_Mutation_p.S1294N|CD109_uc010kba.3_Missense_Mutation_p.S1234N	p.S1311N	NM_133493	NP_598000	WXS	Illumina GAIIx	Phase_I	Q6YHK3	CD109_HUMAN			30	4363	+			1311					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3932G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424679	0.43020	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.39406	1.08;1.08;1.08	4.59	3.68	0.42216	Alpha-macroglobulin, receptor-binding (3);	0.155014	0.64402	D	0.000018	T	0.57095	0.2030	M	0.92219	3.285	0.27953	N	0.937051	P;D;D	0.71674	0.9;0.998;0.976	P;D;D	0.71656	0.471;0.974;0.952	T	0.56872	-0.7907	10	0.87932	D	0	.	8.428	0.32739	0.0821:0.157:0.761:0.0	.	1234;1294;1311	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	N	1294;1234;1311	ENSP00000388062:S1294N;ENSP00000404475:S1234N;ENSP00000287097:S1311N	ENSP00000287097:S1311N	S	+	2	0	CD109	74584852	1.000000	0.71417	0.486000	0.27416	0.182000	0.23217	2.198000	0.42705	1.225000	0.43566	0.484000	0.47621	AGT		0.408	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		5	26	0	0	0	1	0	5	26					A	74528131	G	A	74528131	3	1	350	1	0	0	0	0	1	0	0	0	2963	1029	36	2	4054	2	CD109	6	74528131	Missense_Mutation	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		74528131	96586936	3	5955											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	21	0	0	0	1	0	10	21					T	140453136	A	T	140453136	3	4	350	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08		140453136	18685527	4	5956											
OR4L1	122742	broad.mit.edu	37	14	20528322	20528322	+	Missense_Mutation	SNP	T	T	A			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr14:20528322T>A	ENST00000315683.1	+	1	119	c.119T>A	c.(118-120)aTg>aAg	p.M40K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	40			M -> V (in dbSNP:rs1958716).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GCTACTGTGATGGGAAACATT	0.398																																						uc001vwn.1																			0		p.M40I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(118-120)aTg>aAg		Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.							180	185	184					14																	20528322		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528322T>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.119T>A	14.37:g.20528322T>A	ENSP00000319217:p.Met40Lys		Somatic					p.M40K	NM_001004717	NP_001004717	WXS	Illumina GAIIx	Phase_I	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	0	119	+	all_cancers(95;0.00108)		40		M -> V (in dbSNP:rs1958716).			Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.119T>A	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.371535	0.24771	.	.	ENSG00000176246	ENST00000315683	T	0.00458	7.28	3.84	2.65	0.31530	.	1.004810	0.08017	N	0.991451	T	0.00580	0.0019	M	0.78344	2.41	0.09310	N	1	B	0.12013	0.005	B	0.20955	0.032	T	0.48725	-0.9010	10	0.87932	D	0	.	3.9941	0.09549	0.0:0.1122:0.2175:0.6702	.	40	Q8NH43	OR4L1_HUMAN	K	40	ENSP00000319217:M40K	ENSP00000319217:M40K	M	+	2	0	OR4L1	19598162	0.000000	0.05858	0.079000	0.20413	0.966000	0.64601	-0.005000	0.12855	0.621000	0.30232	0.520000	0.50463	ATG		0.398	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			12	36	0	0	0	1	0	12	36					A	20528322	T	A	20528322	3	1	350	1	0	0	0	0	1	0	0	0	11074	1464	51	5	121	5	OR4L1	14	20528322	Missense_Mutation	SNP	T	TCGA-FE-A23A-01A-11D-A17V-08		20528322	86821218	5	5957											
SLC6A2	6530	broad.mit.edu	37	16	55732393	55732393	+	Missense_Mutation	SNP	G	G	A	rs201885636	byFrequency	TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr16:55732393G>A	ENST00000379906.2	+	10	1657	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	SLC6A2_ENST00000561820.1_Missense_Mutation_p.V468I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V468I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V468I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V363I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V468I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V423I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	468					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGAATTTACGTCTTGACCCT	0.522													G|||	3	0.000599042	0	0	5008	,	,		19175	0.001		0	False		,,,				2504	0.002					uc021tio.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1402-1404)Gtc>Atc		Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						148	126	133					16																	55732393		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55732393G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1402G>A	16.37:g.55732393G>A	ENSP00000369237:p.Val468Ile		Somatic				SLC6A2_uc002eif.3_Missense_Mutation_p.V468I|SLC6A2_uc002eig.3_Missense_Mutation_p.V468I|SLC6A2_uc002eii.3_Missense_Mutation_p.V363I|SLC6A2_uc002eij.3_Missense_Mutation_p.V182I|SLC6A2_uc021tip.1_5'Flank	p.V468I	NM_001172504	NP_001165975	WXS	Illumina GAIIx	Phase_I	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	9	1453	+			468					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1402G>A	CCDS10754.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.46	2.840301	0.51057	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.74315	-0.83;-0.83;-0.83	5.81	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	L	0.45698	1.435	0.53688	D	0.999972	D;D;D;D	0.67145	0.996;0.989;0.996;0.991	P;P;P;P	0.61070	0.883;0.701;0.883;0.802	T	0.76307	-0.3007	10	0.23891	T	0.37	.	15.8729	0.79136	0.0:0.1362:0.8638:0.0	.	468;182;363;468	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	I	468;182;468;468	ENSP00000394956:V468I;ENSP00000369237:V468I;ENSP00000219833:V468I	ENSP00000219833:V468I	V	+	1	0	SLC6A2	54289894	1.000000	0.71417	0.717000	0.30585	0.003000	0.03518	6.042000	0.70996	1.447000	0.47661	0.655000	0.94253	GTC		0.522	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			7	43	0	0	0	1	0	7	43					A	55732393	G	A	55732393	3	1	350	1	0	0	0	0	1	0	0	0	14683	1145	40	1	1531	1	SLC6A2	16	55732393	Missense_Mutation	SNP	G	TCGA-FE-A23A-01A-11D-A17V-08		55732393	34622360	6	5958											
CIAPIN1	57019	broad.mit.edu	37	16	57474766	57474766	+	Silent	SNP	C	C	T			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr16:57474766C>T	ENST00000569979.1	-	1	121	c.75G>A	c.(73-75)ctG>ctA	p.L25L	CIAPIN1_ENST00000394391.4_Silent_p.L25L|CIAPIN1_ENST00000569370.1_Silent_p.L25L|CIAPIN1_ENST00000568940.1_Silent_p.L25L|CIAPIN1_ENST00000567518.1_Silent_p.L25L|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000565961.1_Silent_p.L25L					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCAGACCTTTCAGAGCCTCCA	0.522																																						uc002ell.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(73-75)ctG>ctA		Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.							71	69	70					16																	57474766		1954	4139	6093	SO:0001819	synonymous_variant	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57474766C>T	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.75G>A	16.37:g.57474766C>T			Somatic				CIAPIN1_uc002elm.1_Silent_p.L25L|CIAPIN1_uc010vhm.1_Silent_p.L25L	p.L25L	NM_020313	NP_064709	WXS	Illumina GAIIx	Phase_I	Q6FI81	CPIN1_HUMAN			1	246	-			25						Silent	SNP	ENST00000569979.1	37	c.75G>A																																																																																					0.522	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		9	57	0	0	0	1	0	9	57					T	57474766	C	T	57474766	2	4	350	1	0	0	0	0	0	0	0	1	3419	813	29	2		2	CIAPIN1	16	57474766	Silent	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	1742373	57474766	32879987	7	5959											
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						uc002mkp.3																			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.(982-984)ccT>ccC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G			Somatic					p.P328P	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			0	1188	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	69	0	0	0	1	0	3	69					G	9090831	A	G	9090831	2	3	350	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-FE-A23A-01A-11D-A17V-08		9090831	50038152	8	5960											
IRF3	3661	broad.mit.edu	37	19	50165681	50165681	+	Splice_Site	SNP	C	C	T			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chr19:50165681C>T	ENST00000597198.1	-	5	983		c.e5+1		IRF3_ENST00000599223.1_Splice_Site|IRF3_ENST00000596822.1_Splice_Site|IRF3_ENST00000601291.1_Splice_Site|IRF3_ENST00000598808.1_Splice_Site|IRF3_ENST00000596765.1_Splice_Site|IRF3_ENST00000377139.3_Splice_Site|IRF3_ENST00000377135.4_Splice_Site|IRF3_ENST00000599144.1_Splice_Site|IRF3_ENST00000600911.1_Splice_Site|IRF3_ENST00000600022.1_Splice_Site|IRF3_ENST00000593922.1_Splice_Site|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000309877.7_Splice_Site			Q14653	IRF3_HUMAN	interferon regulatory factor 3						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CTGACACTCACCTTCCCCCGG	0.662																																						uc002pow.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.e5+1		Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 2, mRNA.							19	22	21					19																	50165681		2202	4300	6502	SO:0001630	splice_region_variant	3661				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165681C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.601+1G>A	19.37:g.50165681C>T			Somatic				IRF3_uc002poy.2_Splice_Site_p.E201_splice|IRF3_uc021uxp.1_Splice_Site_p.E55_splice|IRF3_uc021uxq.1_Splice_Site_p.E55_splice|IRF3_uc002pot.2_Splice_Site_p.D201_splice|IRF3_uc021uxr.1_Splice_Site_p.D55_splice|IRF3_uc021uxs.1_Splice_Site_p.D55_splice|IRF3_uc021uxo.1_Splice_Site_p.E166_splice|IRF3_uc002pou.3_Splice_Site_p.E201_splice|IRF3_uc010end.2_Splice_Site_p.E201_splice|IRF3_uc002poz.1_Splice_Site_p.E201_splice|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	p.E201_splice	NM_001197122	NP_001184051	WXS	Illumina GAIIx	Phase_I	Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	5	854	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	201			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Splice_Site	SNP	ENST00000597198.1	37	c.601_splice	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.884081	0.33255	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	.	.	.	4.57	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.36408	D	0.863555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3264	0.21246	0.0:0.7126:0.186:0.1014	.	.	.	.	.	-1	.	.	.	-	.	.	IRF3	54857493	0.986000	0.35501	0.965000	0.40720	0.181000	0.23173	3.410000	0.52664	0.635000	0.30488	0.651000	0.88453	.		0.662	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571	Intron	6	16	0	0	0	1	0	6	16					T	50165681	C	T	50165681	5	4	350	1	0	0	0	0	0	0	1	0	7831	521	18	2	697	2	IRF3	19	50165681	Splice_Site	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	41074850	50165681	8963302	9	5961											
HNRNPH2	3188	broad.mit.edu	37	X	100668067	100668067	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chrX:100668067C>T	ENST00000316594.5	+	2	1169	c.1091C>T	c.(1090-1092)aCt>aTt	p.T364I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	364	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TTAAATTCTACTGCAGGAACA	0.433																																						uc004ehm.3																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(1090-1092)aCt>aTt		Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.							126	118	121					X																	100668067		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	g.chrX:100668067C>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"RNA binding motif (RRM) containing"	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1091C>T	X.37:g.100668067C>T	ENSP00000361927:p.Thr364Ile		Somatic				RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehn.3_Missense_Mutation_p.T364I|HNRNPH2_uc022cai.1_Missense_Mutation_p.T364I	p.T364I	NM_019597	NP_062543	WXS	Illumina GAIIx	Phase_I	P55795	HNRH2_HUMAN			1	1331	+			364			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.|RRM 3.		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.1091C>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.907114	0.33628	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.31510	1.49	4.76	4.76	0.60689	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	M	0.88241	2.94	0.33667	D	0.610471	B	0.17465	0.022	B	0.08055	0.003	T	0.57573	-0.7788	10	0.72032	D	0.01	-10.3673	12.1076	0.53821	0.0:1.0:0.0:0.0	.	364	P55795	HNRH2_HUMAN	I	319;364	ENSP00000361927:T364I	ENSP00000361927:T364I	T	+	2	0	HNRNPH2	100554723	0.861000	0.29849	1.000000	0.80357	0.995000	0.86356	1.034000	0.30204	2.345000	0.79718	0.513000	0.50165	ACT		0.433	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		39	93	0	0	0	1	0	39	93					T	100668067	C	T	100668067	3	4	350	1	0	0	0	0	1	0	0	0	7267	565	20	2	1093	2	HNRNPH2	23	100668067	Missense_Mutation	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08		100668067	54602493	10	5962											
ARHGAP4	393	broad.mit.edu	37	X	153186831	153186831	+	Missense_Mutation	SNP	C	C	G	rs200952700		TCGA-FE-A23A-01A-11D-A17V-08	TCGA-FE-A23A-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60711e67-e8c1-470a-8e9e-1b87e0499e61	7ead3f16-6be4-4546-872e-6af784e1258c	g.chrX:153186831C>G	ENST00000350060.5	-	3	463	c.422G>C	c.(421-423)cGc>cCc	p.R141P	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R141P|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R141P|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R118P|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R141P	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	141					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)					CTTGACCAGGCGCCCCACGTC	0.682																																						uc004fjl.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(421-423)cGc>cCc		Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 1, mRNA.							22	18	19					X																	153186831		2075	4058	6133	SO:0001583	missense	393				Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153186831C>G	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.422G>C	X.37:g.153186831C>G	ENSP00000203786:p.Arg141Pro		Somatic				ARHGAP4_uc011mzf.2_Missense_Mutation_p.R118P|ARHGAP4_uc004fjk.2_Missense_Mutation_p.R141P|ARHGAP4_uc010nup.2_Non-coding_Transcript	p.R141P	NM_001164741	NP_001158213	WXS	Illumina GAIIx	Phase_I	P98171	RHG04_HUMAN			2	480	-	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)		141					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.422G>C	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332667	0.60853	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.48522	2.37;0.81;0.81;0.81;0.81;0.81;0.81	4.8	4.8	0.61643	.	0.000000	0.46758	D	0.000277	T	0.70430	0.3223	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	T	0.76408	-0.2970	10	0.87932	D	0	.	16.3887	0.83524	0.0:1.0:0.0:0.0	.	141;141	Q86UY3;P98171	.;RHG04_HUMAN	P	141;141;141;141;118;118;118	ENSP00000377322:R141P;ENSP00000359045:R141P;ENSP00000203786:R141P;ENSP00000359033:R141P;ENSP00000444169:R118P;ENSP00000398259:R118P;ENSP00000413782:R118P	ENSP00000203786:R141P	R	-	2	0	ARHGAP4	152840025	1.000000	0.71417	0.945000	0.38365	0.103000	0.19146	4.510000	0.60455	2.326000	0.78906	0.529000	0.55759	CGC		0.682	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		6	37	0	0	0	1	0	6	37					G	153186831	C	G	153186831	3	3	350	1	0	0	0	0	1	0	0	0	885	768	27	4	2622	4	ARHGAP4	23	153186831	Missense_Mutation	SNP	C	TCGA-FE-A23A-01A-11D-A17V-08	52518764	153186831	2083729	11	5963											
PCDHGB3	56102	broad.mit.edu	37	5	140750149	140750149	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr5:140750149C>T	ENST00000576222.1	+	1	319	c.188C>T	c.(187-189)aCt>aTt	p.T63I	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	63	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTACCTACTAGGAACCTG	0.547																																						uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(187-189)aCt>aTt		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							107	115	112					5																	140750149		1845	4101	5946	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750149C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.188C>T	5.37:g.140750149C>T	ENSP00000461862:p.Thr63Ile		Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.T63I	p.T63I	NM_018924	NP_061747	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	188	+			61			Cadherin 1.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.188C>T	CCDS58980.1																																																																																				0.547	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		49	130	0	0	0	1	0	49	130					T	140750149	C	T	140750149	3	4	351	1	0	0	0	0	1	0	0	0	11564	565	20	2	190	2	PCDHGB3	5	140750149	Missense_Mutation	SNP	C	TCGA-FE-A3PB-01A-11D-A21Z-08		140750149	40165111	1	5964											
PKHD1	5314	broad.mit.edu	37	6	51900392	51900392	+	Silent	SNP	G	G	A			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr6:51900392G>A	ENST00000371117.3	-	28	3500	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P	PKHD1_ENST00000340994.4_Silent_p.P1075P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1075	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACTTACCCTGGGTGGAACTT	0.393																																						uc003pah.1																			0		p.P1074S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3223-3225)ccC>ccT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							139	126	130					6																	51900392		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900392G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3225C>T	6.37:g.51900392G>A			Somatic				PKHD1_uc003pai.3_Silent_p.P1075P	p.P1075P	NM_138694	NP_619639	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			27	3501	-	Lung NSC(77;0.0605)		1075			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3225C>T	CCDS4935.1																																																																																				0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	138	0	0	0	1	0	4	138					A	51900392	G	A	51900392	2	1	351	1	0	0	0	0	0	0	0	1	11971	1335	47	2		2	PKHD1	6	51900392	Silent	SNP	G	TCGA-FE-A3PB-01A-11D-A21Z-08		51900392	119214675	2	5965											
PRDM13	59336	broad.mit.edu	37	6	100061166	100061166	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr6:100061166C>A	ENST00000369215.4	+	4	960	c.655C>A	c.(655-657)Cag>Aag	p.Q219K		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	219					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCCACCAGTTCAGGCCTGCGG	0.711																																						uc003pqg.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(655-657)Cag>Aag		Homo sapiens PR domain containing 13 (PRDM13), mRNA.							5	7	7					6																	100061166		1808	3974	5782	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061166C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.655C>A	6.37:g.100061166C>A	ENSP00000358217:p.Gln219Lys		Somatic					p.Q219K	NM_021620	NP_067633	WXS	Illumina GAIIx	Phase_I	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	916	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	219					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.655C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854284	0.32791	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05258	3.47;3.49	5.4	4.51	0.55191	.	0.190062	0.25836	N	0.027983	T	0.01454	0.0047	L	0.27053	0.805	0.22701	N	0.99884	B	0.26672	0.156	B	0.19666	0.026	T	0.43491	-0.9388	10	0.07813	T	0.8	-12.6114	15.6095	0.76704	0.0:0.8618:0.1382:0.0	.	219	Q9H4Q3	PRD13_HUMAN	K	219;229	ENSP00000358217:Q219K;ENSP00000358216:Q229K	ENSP00000358216:Q229K	Q	+	1	0	PRDM13	100167887	0.206000	0.23470	0.101000	0.21167	0.467000	0.32768	1.975000	0.40569	1.236000	0.43740	0.563000	0.77884	CAG		0.711	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			2	2	0	0	0	1	0	2	2					A	100061166	C	A	100061166	3	1	351	1	0	0	0	0	1	0	0	0	12454	827	29	4	669	4	PRDM13	6	100061166	Missense_Mutation	SNP	C	TCGA-FE-A3PB-01A-11D-A21Z-08	48160774	100061166	71053901	3	5966											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		22	53	0	0	0	1	0	22	53					T	140453136	A	T	140453136	3	4	351	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A3PB-01A-11D-A21Z-08		140453136	18685527	4	5967											
LMX1B	4010	broad.mit.edu	37	9	129456049	129456051	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr9:129456049_129456051delCAG	ENST00000373474.4	+	6	851_853	c.844_846delCAG	c.(844-846)cagdel	p.Q285del	LMX1B_ENST00000526117.1_In_Frame_Del_p.Q285del|LMX1B_ENST00000425646.2_In_Frame_Del_p.Q262del|LMX1B_ENST00000355497.5_In_Frame_Del_p.Q285del|LMX1B_ENST00000561065.1_In_Frame_Del_p.Q262del			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	285	Poly-Gln.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGGCGGCACCAGCAGCAGCAGG	0.754									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc011maa.2																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(844-846)cagdel		Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129456049_129456051delCAG	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.844_846delCAG	9.37:g.129456058_129456060delCAG	ENSP00000362573:p.Gln285del		Somatic				LMX1B_uc004bqi.3_In_Frame_Del_p.Q285del|LMX1B_uc004bqj.3_In_Frame_Del_p.Q285del	p.Q285del	NM_001174146	NP_001167617	WXS	Illumina GAIIx	Phase_I	O60663	LMX1B_HUMAN			5	851_853	+			262					F8W7W6|O75463|Q5JU95|Q6ISC9	In_Frame_Del	DEL	ENST00000373474.4	37	c.844_846delCAG	CCDS55342.1																																																																																				0.754	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			2	4						2	4	---	---	---	---	-	129456051	CAG	-	129456049	7	5	351	1	0	1	0	1	0	0	0	0	8862	595	21	0	866	0	LMX1B	9	129456049	In_Frame_Del	DEL	CAG	TCGA-FE-A3PB-01A-11D-A21Z-08		129456049	11757382	5	5968											
TAS2R7	50837	broad.mit.edu	37	12	10954956	10954956	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PB-01A-11D-A21Z-08	TCGA-FE-A3PB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7c8abdf-02bc-455f-9e43-f49227b349b2	60e3b235-1934-460a-b420-b02c1f4a3acd	g.chr12:10954956A>G	ENST00000240687.2	-	1	270	c.214T>C	c.(214-216)Tat>Cat	p.Y72H		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	72					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ACATCTGGATATAGCACCAAT	0.373																																						uc001qyv.3																			0				kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						c.(214-216)Tat>Cat		Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.							87	88	88					12																	10954956		2203	4300	6503	SO:0001583	missense	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954956A>G	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.214T>C	12.37:g.10954956A>G	ENSP00000240687:p.Tyr72His		Somatic					p.Y72H	NM_023919	NP_076408	WXS	Illumina GAIIx	Phase_I	Q9NYW3	TA2R7_HUMAN			0	271	-			72					Q645Y1	Missense_Mutation	SNP	ENST00000240687.2	37	c.214T>C	CCDS8631.1	.	.	.	.	.	.	.	.	.	.	A	4.963	0.178789	0.09443	.	.	ENSG00000121377	ENST00000240687	T	0.37235	1.21	5.28	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.315639	0.24441	N	0.038507	T	0.22589	0.0545	L	0.28014	0.82	0.20196	N	0.999922	B	0.14438	0.01	B	0.23716	0.048	T	0.16012	-1.0417	10	0.24483	T	0.36	.	7.1254	0.25469	0.7038:0.1512:0.0:0.145	.	72	Q9NYW3	TA2R7_HUMAN	H	72	ENSP00000240687:Y72H	ENSP00000240687:Y72H	Y	-	1	0	TAS2R7	10846223	0.000000	0.05858	0.278000	0.24718	0.098000	0.18820	-0.354000	0.07681	0.993000	0.38866	0.528000	0.53228	TAT		0.373	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			28	51	0	0	0	1	0	28	51					G	10954956	A	G	10954956	3	3	351	1	0	0	0	0	1	0	0	0	15583	449	16	3	746	3	TAS2R7	12	10954956	Missense_Mutation	SNP	A	TCGA-FE-A3PB-01A-11D-A21Z-08		10954956	122896939	6	5969											
WDR8	49856	broad.mit.edu	37	1	3552584	3552584	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:3552584G>A	ENST00000270708.7	-	6	600	c.527C>T	c.(526-528)aCg>aTg	p.T176M	WRAP73_ENST00000378322.3_Missense_Mutation_p.T176M	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	176						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGGGTGTCCGTATCAAAATG	0.443																																						uc001ako.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(526-528)aCg>aTg		Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.							78	71	74					1																	3552584		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3552584G>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.527C>T	1.37:g.3552584G>A	ENSP00000270708:p.Thr176Met		Somatic				WRAP73_uc001akn.3_Missense_Mutation_p.T176M|WRAP73_uc010nzi.2_3'UTR	p.T176M	NM_017818	NP_060288	WXS	Illumina GAIIx	Phase_I	Q9P2S5	WRP73_HUMAN			5	635	-			176					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.527C>T	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617285	0.46736	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.05855	3.39;3.38;3.39	5.4	5.4	0.78164	Six-bladed beta-propeller, TolB-like (1);	0.091342	0.85682	D	0.000000	T	0.18383	0.0441	L	0.46157	1.445	0.58432	D	0.99999	D;D	0.76494	0.998;0.999	P;P	0.62382	0.8;0.901	T	0.00121	-1.2028	10	0.54805	T	0.06	-20.8637	18.1341	0.89612	0.0:0.0:1.0:0.0	.	176;176	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	M	176	ENSP00000270708:T176M;ENSP00000367573:T176M;ENSP00000416192:T176M	ENSP00000270708:T176M	T	-	2	0	WRAP73	3542444	1.000000	0.71417	0.432000	0.26747	0.982000	0.71751	6.354000	0.73036	2.515000	0.84797	0.655000	0.94253	ACG		0.443	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			3	78	0	0	0	1	0	3	78					A	3552584	G	A	3552584	3	1	352	1	0	0	0	0	1	0	0	0	17326	1145	40	1	883	1	WDR8	1	3552584	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		3552584	245698037	1	5970											
PPP1R8	5511	broad.mit.edu	37	1	28176693	28176693	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:28176693C>T	ENST00000311772.5	+	7	850	c.792C>T	c.(790-792)taC>taT	p.Y264Y	PPP1R8_ENST00000373931.4_Silent_p.Y122Y|PPP1R8_ENST00000236412.7_Silent_p.Y40Y|PPP1R8_ENST00000486634.1_3'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	264					cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|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;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGACTCTACGGGGGCCTGC	0.617																																						uc001bov.2																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(790-792)taC>taT		Homo sapiens protein phosphatase 1, regulatory subunit 8 (PPP1R8), transcript variant 1, mRNA.							106	115	112					1																	28176693		2203	4300	6503	SO:0001819	synonymous_variant	5511				RNA catabolic process|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|RNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity	g.chr1:28176693C>T	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9296	protein-coding gene	gene with protein product	"RNase E", "nuclear subunit of PP-1", "nuclear inhibitor of protein phosphatase-1", "activator of RNA decay", "protein phosphatase 1 regulatory subunit 8"	602636	"protein phosphatase 1, regulatory (inhibitor) subunit 8"			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.792C>T	1.37:g.28176693C>T			Somatic				PPP1R8_uc009vtd.2_Silent_p.Y40Y|PPP1R8_uc001bow.2_Silent_p.Y122Y|PPP1R8_uc001box.2_Silent_p.Y40Y|PPP1R8_uc021ojy.1_Silent_p.Y122Y	p.Y264Y	NM_014110	NP_612568	WXS	Illumina GAIIx	Phase_I	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	6	887	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	264					Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Silent	SNP	ENST00000311772.5	37	c.792C>T	CCDS311.1																																																																																				0.617	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		19	180	0	0	0	1	0	19	180					T	28176693	C	T	28176693	2	4	352	1	0	0	0	0	0	0	0	1	12377	547	19	1		1	PPP1R8	1	28176693	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	24624109	28176693	221073928	2	5971											
FNBP1L	54874	broad.mit.edu	37	1	93965084	93965084	+	Silent	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:93965084T>C	ENST00000271234.7	+	2	235	c.84T>C	c.(82-84)taT>taC	p.Y28Y	FNBP1L_ENST00000370253.2_Silent_p.Y28Y|FNBP1L_ENST00000370256.4_Silent_p.Y28Y|FNBP1L_ENST00000604705.1_Silent_p.Y28Y|FNBP1L_ENST00000260506.8_Silent_p.Y28Y	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	28	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGGAAAGATATGCCAAATTTG	0.308																																						uc010otk.2																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(82-84)taT>taC		Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.							50	49	50					1																	93965084		1818	4085	5903	SO:0001819	synonymous_variant	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:93965084T>C		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.84T>C	1.37:g.93965084T>C			Somatic				FNBP1L_uc001dpv.3_Silent_p.Y28Y|FNBP1L_uc001dpw.3_Silent_p.Y28Y	p.Y28Y	NM_001164473	NP_001157945	WXS	Illumina GAIIx	Phase_I	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	1	235	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	28			FCH.|Induction of membrane tubulation (By similarity).		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Silent	SNP	ENST00000271234.7	37	c.84T>C	CCDS53343.1																																																																																				0.308	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		5	21	0	0	0	1	0	5	21					C	93965084	T	C	93965084	2	2	352	1	0	0	0	0	0	0	0	1	5966	1471	51	3		3	FNBP1L	1	93965084	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	65788391	93965084	155285537	3	5972											
NGF	4803	broad.mit.edu	37	1	115828959	115828959	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:115828959T>C	ENST00000369512.2	-	3	626	c.458A>G	c.(457-459)aAg>aGg	p.K153R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	153					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CTCCTTGCCCTTGATGTCTGT	0.517																																						uc001efu.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(457-459)aAg>aGg		Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	Clenbuterol(DB01407)						144	126	133					1																	115828959		2203	4300	6503	SO:0001583	missense	4803				Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding	g.chr1:115828959T>C		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.458A>G	1.37:g.115828959T>C	ENSP00000358525:p.Lys153Arg		Somatic				NGF_uc021osd.1_Missense_Mutation_p.K153R	p.K153R	NM_002506	NP_002497	WXS	Illumina GAIIx	Phase_I	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	2	627	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	153					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.458A>G	CCDS882.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392594	0.62066	.	.	ENSG00000134259	ENST00000369512	T	0.65732	-0.17	5.02	5.02	0.67125	Nerve growth factor-related (4);	0.284918	0.39475	N	0.001358	T	0.45196	0.1330	N	0.11892	0.195	0.38560	D	0.94968	P	0.44659	0.84	P	0.55087	0.768	T	0.50074	-0.8870	10	0.27082	T	0.32	-19.5969	13.9972	0.64409	0.0:0.0:0.0:1.0	.	153	P01138	NGF_HUMAN	R	153	ENSP00000358525:K153R	ENSP00000358525:K153R	K	-	2	0	NGF	115630482	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.346000	0.52190	2.008000	0.58898	0.260000	0.18958	AAG		0.517	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		5	150	0	0	0	1	0	5	150					C	115828959	T	C	115828959	3	2	352	1	0	0	0	0	1	0	0	0	10395	1609	56	3	271	3	NGF	1	115828959	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	21863875	115828959	133421662	4	5973											
CGN	57530	broad.mit.edu	37	1	151501902	151501902	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:151501902G>A	ENST00000271636.7	+	11	2106	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	652	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCGACACCGGGACCGGGAG	0.612																																						uc009wmw.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1972-1974)cGg>cAg		Homo sapiens cingulin (CGN), mRNA.							42	44	43					1																	151501902		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151501902G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1973G>A	1.37:g.151501902G>A	ENSP00000271636:p.Arg658Gln		Somatic					p.R658Q	NM_020770	NP_065821	WXS	Illumina GAIIx	Phase_I	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		10	2117	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		652			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.1973G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291027	0.59976	.	.	ENSG00000143375	ENST00000271636	T	0.65364	-0.15	4.43	3.49	0.39957	.	0.130180	0.49305	N	0.000148	T	0.38585	0.1046	M	0.67953	2.075	0.32653	N	0.519158	B	0.30193	0.272	B	0.15484	0.013	T	0.39333	-0.9619	10	0.46703	T	0.11	-19.8847	10.2084	0.43126	0.0958:0.0:0.9042:0.0	.	652	Q9P2M7	CING_HUMAN	Q	658	ENSP00000271636:R658Q	ENSP00000271636:R658Q	R	+	2	0	CGN	149768526	0.906000	0.30813	0.971000	0.41717	0.983000	0.72400	3.356000	0.52269	1.194000	0.43101	0.655000	0.94253	CGG		0.612	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		3	76	0	0	0	1	0	3	76					A	151501902	G	A	151501902	3	1	352	1	0	0	0	0	1	0	0	0	3303	1116	39	1	2011	1	CGN	1	151501902	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	35672943	151501902	97748719	5	5974											
DAP3	7818	broad.mit.edu	37	1	155701824	155701824	+	Splice_Site	SNP	G	G	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:155701824G>T	ENST00000368336.5	+	11	1117	c.993G>T	c.(991-993)aaG>aaT	p.K331N	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Splice_Site_p.K297N|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Splice_Site_p.K290N|DAP3_ENST00000343043.3_Splice_Site_p.K331N|DAP3_ENST00000471642.2_Splice_Site_p.K290N	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	331					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTGGGAAAGGTCAAGTCAA	0.388																																						uc001fls.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.e12+1		Homo sapiens death associated protein 3 (DAP3), transcript variant 3, mRNA.							38	38	38					1																	155701824		2203	4300	6503	SO:0001630	splice_region_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155701824G>T	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.993+1G>T	1.37:g.155701824G>T			Somatic				GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Splice_Site_p.K290_splice|DAP3_uc010pgm.2_Splice_Site_p.K297_splice|DAP3_uc001flr.3_Splice_Site_p.K331_splice|DAP3_uc001flq.3_Splice_Site_p.K331_splice	p.K331_splice	NM_001199849	NP_001186778	WXS	Illumina GAIIx	Phase_I	P51398	RT29_HUMAN			12	1177	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		331					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Splice_Site	SNP	ENST00000368336.5	37	c.993_splice	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010918	0.93346	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.09	5.09	0.68999	.	0.108681	0.64402	D	0.000007	T	0.53190	0.1781	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.53745	0.962;0.962;0.962;0.962	P;P;P;P	0.56751	0.805;0.805;0.805;0.805	T	0.58031	-0.7708	10	0.87932	D	0	-15.5952	18.2993	0.90158	0.0:0.0:1.0:0.0	.	290;297;297;331	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	N	331;331;297;290	ENSP00000357320:K331N;ENSP00000341692:K331N;ENSP00000412605:K297N;ENSP00000445003:K290N	ENSP00000341692:K331N	K	+	3	2	DAP3	153968448	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.792000	0.69052	2.639000	0.89480	0.557000	0.71058	AAG		0.388	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632	Missense_Mutation	3	29	0	0	0	1	0	3	29					T	155701824	G	T	155701824	5	4	352	1	0	0	0	0	0	0	1	0	4234	1014	35	4	1031	4	DAP3	1	155701824	Splice_Site	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	4199922	155701824	93548797	6	5975											
SLAMF8	56833	broad.mit.edu	37	1	159799959	159799959	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:159799959A>T	ENST00000289707.5	+	2	493	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	115					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCCTGGACCCAGACCCTCCAG	0.617																																						uc001fue.4																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(343-345)cAg>cTg		Homo sapiens SLAM family member 8 (SLAMF8), mRNA.							35	37	37					1																	159799959		2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159799959A>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.344A>T	1.37:g.159799959A>T	ENSP00000289707:p.Gln115Leu		Somatic					p.Q115L	NM_020125	NP_064510	WXS	Illumina GAIIx	Phase_I	Q9P0V8	SLAF8_HUMAN			1	554	+	all_hematologic(112;0.0597)		115					Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.344A>T	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.588277	0.46110	.	.	ENSG00000158714	ENST00000289707	T	0.20598	2.06	4.55	4.55	0.56014	.	0.483471	0.20393	N	0.093220	T	0.07548	0.0190	L	0.32530	0.975	0.80722	D	1	P	0.47409	0.895	P	0.44518	0.452	T	0.10132	-1.0643	10	0.10377	T	0.69	-12.9132	10.2113	0.43143	1.0:0.0:0.0:0.0	.	115	Q9P0V8	SLAF8_HUMAN	L	115	ENSP00000289707:Q115L	ENSP00000289707:Q115L	Q	+	2	0	SLAMF8	158066583	0.999000	0.42202	1.000000	0.80357	0.651000	0.38670	1.366000	0.34193	1.919000	0.55581	0.260000	0.18958	CAG		0.617	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		19	26	0	0	0	1	0	19	26					T	159799959	A	T	159799959	3	4	352	1	0	0	0	0	1	0	0	0	14370	188	7	5	350	5	SLAMF8	1	159799959	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	4098135	159799959	89450662	7	5976											
TOR1AIP2	163590	broad.mit.edu	37	1	179815856	179815856	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:179815856A>G	ENST00000367612.3	-	6	1150	c.763T>C	c.(763-765)Ttt>Ctt	p.F255L	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.F255L	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	115										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TGGGCCAAAAAGGCCTCCAAA	0.493																																						uc001gnl.3																			0		p.A254V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(763-765)Ttt>Ctt		Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.							51	59	56					1																	179815856		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815856A>G		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.763T>C	1.37:g.179815856A>G	ENSP00000356584:p.Phe255Leu		Somatic				TOR1AIP2_uc001gnk.3_Missense_Mutation_p.F255L	p.F255L	NM_001199260	NP_001186189	WXS	Illumina GAIIx	Phase_I	Q8NFQ8	TOIP2_HUMAN			6	1577	-			255					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.763T>C	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887429	0.91814	.	.	ENSG00000169905	ENST00000367612	T	0.34667	1.35	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.83012	2.62	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.70015	-0.4988	10	0.87932	D	0	-13.6454	15.2538	0.73568	1.0:0.0:0.0:0.0	.	255	Q8NFQ8	TOIP2_HUMAN	L	255	ENSP00000356584:F255L	ENSP00000356584:F255L	F	-	1	0	TOR1AIP2	178082479	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.851000	0.86920	2.084000	0.62774	0.533000	0.62120	TTT		0.493	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		3	130	0	0	0	1	0	3	130					G	179815856	A	G	179815856	3	3	352	1	0	0	0	0	1	0	0	0	16370	72	3	3	653	3	TOR1AIP2	1	179815856	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	20015897	179815856	69434765	8	5977											
TROVE2	6738	broad.mit.edu	37	1	193038712	193038712	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:193038712C>T	ENST00000367446.3	+	2	738	c.528C>T	c.(526-528)ggC>ggT	p.G176G	TROVE2_ENST00000367443.1_Silent_p.G176G|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367445.3_Silent_p.G176G|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000400968.2_Silent_p.G176G|TROVE2_ENST00000367441.1_Silent_p.G176G|TROVE2_ENST00000367444.3_Silent_p.G176G	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	176	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AGAGAAATGGCTGGTCTCACA	0.453																																						uc001gss.3																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(526-528)ggC>ggT		Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.							75	73	74					1																	193038712		1897	4117	6014	SO:0001819	synonymous_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding	g.chr1:193038712C>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.528C>T	1.37:g.193038712C>T			Somatic				TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Silent_p.G176G|TROVE2_uc009wyp.3_Silent_p.G176G|TROVE2_uc001gsw.3_Silent_p.G176G|TROVE2_uc009wyq.3_Silent_p.G176G|TROVE2_uc001gsx.2_Silent_p.G176G	p.G176G	NM_001173524	NP_004591	WXS	Illumina GAIIx	Phase_I	P10155	RO60_HUMAN			1	904	+			176			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	ENST00000367446.3	37	c.528C>T	CCDS1379.1																																																																																				0.453	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		3	100	0	0	0	1	0	3	100					T	193038712	C	T	193038712	2	4	352	1	0	0	0	0	0	0	0	1	16573	784	28	2		2	TROVE2	1	193038712	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	13222856	193038712	56211909	9	5978											
TNNT2	7139	broad.mit.edu	37	1	201333480	201333480	+	Silent	SNP	G	G	A	rs375675827		TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:201333480G>A	ENST00000509001.1	-	10	691	c.405C>T	c.(403-405)gcC>gcT	p.A135A	TNNT2_ENST00000236918.7_Silent_p.A140A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367320.2_Silent_p.A105A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	145					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642																																						uc001gwf.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(433-435)gcC>gcT		Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.		G	,,,	0,4406		0,0,2203	44	39	40		435,405,405,390	-8.6	0.2	1		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNNT2	NM_000364.2,NM_001001430.1,NM_001001431.1,NM_001001432.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	145/296,135/289,135/286,130/283	201333480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333480G>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.405C>T	1.37:g.201333480G>A			Somatic				TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Silent_p.A135A|TNNT2_uc001gwg.3_Silent_p.A135A|TNNT2_uc001gwh.3_Silent_p.A126A|TNNT2_uc001gwi.3_Silent_p.A105A|TNNT2_uc009wzr.3_Silent_p.A76A|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.A110A|TNNT2_uc001gwk.1_Silent_p.A76A|TNNT2_uc009wzt.1_Silent_p.A135A	p.A145A	NM_000364	NP_000355	WXS	Illumina GAIIx	Phase_I	P45379	TNNT2_HUMAN			10	504	-			145					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.435C>T	CCDS30969.1																																																																																				0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		3	54	0	0	0	1	0	3	54					A	201333480	G	A	201333480	2	1	352	1	0	0	0	0	0	0	0	1	16328	1103	39	1		1	TNNT2	1	201333480	Silent	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	8294768	201333480	47917141	10	5979											
NRXN1	9378	broad.mit.edu	37	2	50780088	50780088	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:50780088G>T	ENST00000406316.2	-	9	2872	c.1396C>A	c.(1396-1398)Cat>Aat	p.H466N	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.H458N|NRXN1_ENST00000405472.3_Missense_Mutation_p.H458N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H466N|NRXN1_ENST00000404971.1_Missense_Mutation_p.H506N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H466N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	466	Laminin G-like 2. {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)			ACCACTCCATGGATCTTCATC	0.413																																						uc021vhg.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.(1516-1518)Cat>Aat		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							132	125	127					2																	50780088		1885	4126	6011	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.chr2:50780088G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1396C>A	2.37:g.50780088G>T	ENSP00000384311:p.His466Asn		Somatic				NRXN1_uc002rxb.4_Missense_Mutation_p.H138N|NRXN1_uc021vhh.1_Missense_Mutation_p.H466N|NRXN1_uc021vhi.1_Missense_Mutation_p.H502N|NRXN1_uc021vhj.1_Missense_Mutation_p.H462N|NRXN1_uc002rxc.1_Non-coding_Transcript	p.H506N	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2437	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	466			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1516C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378526	0.24944	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.70631	0.22;0.18;-0.5;-0.39;-0.1;0.04	5.72	5.72	0.89469	.	0.211060	0.48767	D	0.000162	T	0.59636	0.2208	N	0.19112	0.55	0.23724	N	0.997016	B;B;B	0.14438	0.006;0.01;0.003	B;B;B	0.12156	0.007;0.005;0.005	T	0.42464	-0.9450	10	0.27785	T	0.31	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	506;466;458	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	506;466;458;466;507;458;466	ENSP00000385142:H506N;ENSP00000384311:H466N;ENSP00000434015:H458N;ENSP00000385017:H466N;ENSP00000385434:H458N;ENSP00000385681:H466N	ENSP00000385017:H466N	H	-	1	0	NRXN1	50633592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.630000	0.61297	2.696000	0.92011	0.650000	0.86243	CAT		0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	156	0	0	0	1	0	4	156					T	50780088	G	T	50780088	3	4	352	1	0	0	0	0	1	0	0	0	10665	1348	47	4	3450	4	NRXN1	2	50780088	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		50780088	192419285	11	5980											
AGPS	8540	broad.mit.edu	37	2	178378622	178378622	+	Silent	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:178378622T>C	ENST00000264167.4	+	17	1829	c.1683T>C	c.(1681-1683)ccT>ccC	p.P561P	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	561					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGTTTGCTCCTTTTTCTACAT	0.303																																						uc002ull.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1681-1683)ccT>ccC		Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.							104	106	105					2																	178378622		2203	4299	6502	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178378622T>C	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1683T>C	2.37:g.178378622T>C			Somatic				AGPS_uc010zfb.1_Silent_p.P471P	p.P561P	NM_003659	NP_003650	WXS	Illumina GAIIx	Phase_I	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		16	1730	+			561					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1683T>C	CCDS2275.1																																																																																				0.303	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			3	93	0	0	0	1	0	3	93					C	178378622	T	C	178378622	2	2	352	1	0	0	0	0	0	0	0	1	394	1596	56	3		3	AGPS	2	178378622	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	127598534	178378622	64820751	12	5981											
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.G118_splice	NM_006218	NP_006209	WXS	Illumina GAIIx	Phase_I	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.353_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	11	79	0	0	0	1	0	11	79					A	178917478	G	A	178917478	5	1	352	1	0	0	0	0	0	0	1	0	11913	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		178917478	19104952	13	5982											
LPHN3	23284	broad.mit.edu	37	4	62598711	62598711	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr4:62598711G>T	ENST00000514591.1	+	7	963	c.634G>T	c.(634-636)Gta>Tta	p.V212L	LPHN3_ENST00000507625.1_Missense_Mutation_p.V280L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V212L|LPHN3_ENST00000512091.2_Missense_Mutation_p.V212L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V212L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V280L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V212L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V212L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V280L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V280L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V212L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V212L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	212	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						CACAGGATTTGTAGTGTATGA	0.448																																						uc010ihh.3																			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.(634-636)Gta>Tta		Homo sapiens latrophilin 3 (LPHN3), mRNA.							80	75	76					4																	62598711		1906	4122	6028	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598711G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.634G>T	4.37:g.62598711G>T	ENSP00000422533:p.Val212Leu		Somatic				LPHN3_uc003hcq.4_Missense_Mutation_p.V212L|LPHN3_uc010ihg.1_Missense_Mutation_p.V280L|LPHN3_uc003hcs.1_Missense_Mutation_p.V41L	p.V212L	NM_015236	NP_056051	WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			4	807	+			212			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.634G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152704	0.78001	.	.	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	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.82193	2.58	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.997;0.902	D;D;D	0.79108	0.992;0.992;0.927	D	0.96123	0.9086	10	0.87932	D	0	.	17.8426	0.88719	0.0:0.0:1.0:0.0	.	212;280;212	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	212;212;280;280;212;212;212;212;212;280;280;280;212;212;212;280;280;212	ENSP00000423388:V212L;ENSP00000422533:V212L;ENSP00000423787:V280L;ENSP00000425033:V280L;ENSP00000424120:V212L;ENSP00000439831:V212L;ENSP00000421476:V280L;ENSP00000424030:V280L;ENSP00000421372:V280L;ENSP00000425201:V212L;ENSP00000423434:V212L;ENSP00000421627:V212L;ENSP00000420931:V280L;ENSP00000425884:V280L;ENSP00000424258:V212L	ENSP00000280009:V212L	V	+	1	0	LPHN3	62281306	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.458000	0.83093	0.557000	0.71058	GTA		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	47	0	0	0	1	0	4	47					T	62598711	G	T	62598711	3	4	352	1	0	0	0	0	1	0	0	0	8917	1377	48	4	652	4	LPHN3	4	62598711	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		62598711	128555565	14	5983											
TUBB2B	347733	broad.mit.edu	37	6	3226415	3226415	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:3226415G>C	ENST00000259818.7	-	3	446	c.255C>G	c.(253-255)ttC>ttG	p.F85L	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	85					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGTCTGGTCTGAAGATCTGGC	0.527																																						uc003mvg.3																			0				kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(253-255)ttC>ttG		Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA.							112	97	102					6																	3226415		2203	4300	6503	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3226415G>C	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.255C>G	6.37:g.3226415G>C	ENSP00000259818:p.Phe85Leu		Somatic				AK096219_uc003mvi.1_5'Flank	p.F85L	NM_178012	NP_821080	WXS	Illumina GAIIx	Phase_I	Q9BVA1	TBB2B_HUMAN			2	446	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	85					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.255C>G	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330084	0.41297	.	.	ENSG00000137285	ENST00000259818	T	0.70749	-0.51	5.31	4.45	0.53987	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000003	D	0.82416	0.5032	M	0.93978	3.48	0.80722	D	1	P	0.35383	0.498	P	0.57204	0.815	D	0.84788	0.0777	10	0.87932	D	0	.	8.8079	0.34950	0.2269:0.0:0.7731:0.0	.	85	Q9BVA1	TBB2B_HUMAN	L	85	ENSP00000259818:F85L	ENSP00000259818:F85L	F	-	3	2	TUBB2B	3171414	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.505000	0.53356	1.240000	0.43803	-0.222000	0.12452	TTC		0.527	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		48	54	0	0	0	1	0	48	54					C	3226415	G	C	3226415	3	2	352	1	0	0	0	0	1	0	0	0	16752	1281	45	4	1090	4	TUBB2B	6	3226415	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		3226415	167888652	15	5984											
RMND1	55005	broad.mit.edu	37	6	151757610	151757610	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:151757610C>T	ENST00000367303.4	-	3	706	c.584G>A	c.(583-585)gGa>gAa	p.G195E	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	195					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTCAACATATCCGTGGGAGGC	0.423																																						uc003qoi.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(583-585)gGa>gAa		Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.							160	148	152					6																	151757610		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151757610C>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.584G>A	6.37:g.151757610C>T	ENSP00000356272:p.Gly195Glu		Somatic				RMND1_uc011eeq.1_5'UTR|RMND1_uc003qoj.3_Missense_Mutation_p.G195E|RMND1_uc011eer.1_Missense_Mutation_p.G195E	p.G195E	NM_017909	NP_060379	WXS	Illumina GAIIx	Phase_I	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	764	-		Ovarian(120;0.125)	195					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.584G>A	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716479	0.89205	.	.	ENSG00000155906	ENST00000367303;ENST00000444024	T	0.52057	0.68	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.36672	1.1	0.80722	D	1	D;P	0.89917	1.0;0.944	D;P	0.97110	1.0;0.578	T	0.56679	-0.7939	10	0.66056	D	0.02	-26.4209	19.9882	0.97356	0.0:1.0:0.0:0.0	.	195;195	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	E	195;25	ENSP00000356272:G195E	ENSP00000356272:G195E	G	-	2	0	RMND1	151799303	1.000000	0.71417	0.957000	0.39632	0.945000	0.59286	6.058000	0.71126	2.824000	0.97209	0.655000	0.94253	GGA		0.423	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		17	110	0	0	0	1	0	17	110					T	151757610	C	T	151757610	3	4	352	1	0	0	0	0	1	0	0	0	13396	855	30	2	805	2	RMND1	6	151757610	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	148531195	151757610	19357457	16	5985											
AKAP9	10142	broad.mit.edu	37	7	91711855	91711855	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:91711855A>G	ENST00000359028.2	+	33	8300	c.8075A>G	c.(8074-8076)cAt>cGt	p.H2692R	AKAP9_ENST00000358100.2_Missense_Mutation_p.H2692R|AKAP9_ENST00000356239.3_Missense_Mutation_p.H2680R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2692	Glu-rich.				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)			GAGCTATTTCATAGCAATGAA	0.338			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		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.(8038-8040)cAt>cGt		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							68	71	70					7																	91711855		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	g.chr7:91711855A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	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"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8075A>G	7.37:g.91711855A>G	ENSP00000351922:p.His2692Arg		Somatic				AKAP9_uc003ulf.3_Missense_Mutation_p.H2672R|AKAP9_uc003uli.3_Missense_Mutation_p.H2303R|AKAP9_uc003ulj.3_Missense_Mutation_p.H450R|AKAP9_uc003ulk.3_5'Flank	p.H2680R	NM_005751	NP_005742	WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	8264	+	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)		2692			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8039A>G		.	.	.	.	.	.	.	.	.	.	A	4.939	0.174538	0.09391	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03242	4.1;4.1;4.1;4.0	4.91	3.73	0.42828	.	.	.	.	.	T	0.05227	0.0139	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.19331	0.035;0.012;0.02;0.02	B;B;B;B	0.19391	0.025;0.011;0.025;0.025	T	0.31779	-0.9931	9	0.30854	T	0.27	.	11.3676	0.49681	0.8478:0.1522:0.0:0.0	.	2684;2692;2680;2672	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	R	2680;2692;2692;2684;526	ENSP00000348573:H2680R;ENSP00000351922:H2692R;ENSP00000350813:H2692R;ENSP00000378042:H526R	ENSP00000348573:H2680R	H	+	2	0	AKAP9	91549791	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	1.012000	0.29924	0.980000	0.38523	-0.449000	0.05564	CAT		0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	84	0	0	0	1	0	3	84					G	91711855	A	G	91711855	3	3	352	1	0	0	0	0	1	0	0	0	459	217	8	3	8165	3	AKAP9	7	91711855	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		91711855	67426808	17	5986											
CALD1	800	broad.mit.edu	37	7	134618477	134618477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:134618477delG	ENST00000361675.2	+	5	1186	c.957delG	c.(955-957)gagfs	p.E321fs	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				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						ggatgagggaggaagagaaaa	0.488																																						uc003vrz.3																			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.(955-957)gagfs		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.							105	117	113					7																	134618477		2198	4292	6490	SO:0001589	frameshift_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618477delG	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.957delG	7.37:g.134618477delG	ENSP00000354826:p.Glu321fs		Somatic				CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Del_p.E183fs	p.E319fs	NM_033138	NP_149129	WXS	Illumina GAIIx	Phase_I	Q05682	CALD1_HUMAN			4	1423	+			319			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Frame_Shift_Del	DEL	ENST00000361675.2	37	c.957delG	CCDS5835.1																																																																																				0.488	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		2	4						2	4	---	---	---	---	-	134618477	G	-	134618477	7	5	352	1	0	1	0	1	0	0	0	0	2581	991	35	0	1024	0	CALD1	7	134618477	Frame_Shift_Del	DEL	G	TCGA-FE-A3PC-01A-11D-A21Z-08	42906622	134618477	24520186	18	5987											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		55	67	0	0	0	1	0	55	67					T	140453136	A	T	140453136	3	4	352	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	5834659	140453136	18685527	19	5988											
KDM4C	23081	broad.mit.edu	37	9	6893216	6893216	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr9:6893216G>A	ENST00000381309.3	+	8	1470	c.905G>A	c.(904-906)gGa>gAa	p.G302E	KDM4C_ENST00000442236.2_Missense_Mutation_p.G121E|KDM4C_ENST00000381306.3_Missense_Mutation_p.G302E|KDM4C_ENST00000535193.1_Missense_Mutation_p.G324E|KDM4C_ENST00000536108.1_Missense_Mutation_p.G121E|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Missense_Mutation_p.G302E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	302	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTGACTATGGAAAAGTTGCC	0.363																																						uc003zkh.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(904-906)gGa>gAa		Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.							95	96	95					9																	6893216		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6893216G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.905G>A	9.37:g.6893216G>A	ENSP00000370710:p.Gly302Glu		Somatic				KDM4C_uc010mhu.2_Missense_Mutation_p.G324E|KDM4C_uc010mhw.3_Missense_Mutation_p.G302E|KDM4C_uc011lmi.1_Missense_Mutation_p.G302E|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.G302E|KDM4C_uc011lmk.2_Missense_Mutation_p.G121E	p.G302E	NM_015061	NP_055876	WXS	Illumina GAIIx	Phase_I	Q9H3R0	KDM4C_HUMAN			7	1485	+			302			JmjC.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.905G>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086035	0.94100	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.72	5.72	0.89469	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.91506	0.7318	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94199	0.7448	10	0.87932	D	0	-6.0165	20.244	0.98389	0.0:0.0:1.0:0.0	.	121;302;302;324;302;302	E7EV17;F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	E	324;302;302;302;121;121	ENSP00000442382:G324E;ENSP00000445427:G302E;ENSP00000370710:G302E;ENSP00000370707:G302E;ENSP00000409353:G121E;ENSP00000440656:G121E	ENSP00000370707:G302E	G	+	2	0	KDM4C	6883216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.747000	0.98863	2.865000	0.98341	0.655000	0.94253	GGA		0.363	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		5	121	0	0	0	1	0	5	121					A	6893216	G	A	6893216	3	1	352	1	0	0	0	0	1	0	0	0	8130	1174	41	2	1001	2	KDM4C	9	6893216	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		6893216	134320215	20	5989											
CPEB3	22849	broad.mit.edu	37	10	94000047	94000049	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:94000047_94000049delGCT	ENST00000265997.4	-	2	231_233	c.59_61delAGC	c.(58-63)cagcgg>cgg	p.Q20del	CPEB3_ENST00000412050.4_In_Frame_Del_p.Q20del	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	20	Gln-rich.				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)				tgctgctgccgctgctgctgctg	0.591																																						uc001khu.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(58-63)cagcgg>cgg		Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.			,	12,3300		1,10,1645					,	-4.3	0.8			7	17,6581		2,13,3284	no	coding,coding	CPEB3	NM_014912.4,NM_001178137.1	,	3,23,4929	A1A1,A1R,RR		0.2577,0.3623,0.2926	,	,		29,9881				SO:0001651	inframe_deletion	22849						RNA binding|nucleotide binding	g.chr10:94000047_94000049delGCT	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.59_61delAGC	10.37:g.94000056_94000058delGCT	ENSP00000265997:p.Gln20del		Somatic				CPEB3_uc001khv.2_In_Frame_Del_p.Q20del|CPEB3_uc001khw.2_In_Frame_Del_p.Q20del|CPEB3_uc010qnn.2_In_Frame_Del_p.Q20del	p.Q20del	NM_014912	NP_055727	WXS	Illumina GAIIx	Phase_I	Q8NE35	CPEB3_HUMAN			0	70_72	-		Colorectal(252;0.0869)	20			Gln-rich.		Q5T389|Q9NQJ7|Q9Y2E9	In_Frame_Del	DEL	ENST00000265997.4	37	c.59_61delAGC	CCDS31246.1																																																																																				0.591	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		2	4						2	4	---	---	---	---	-	94000049	GCT	-	94000047	7	5	352	1	0	1	0	1	0	0	0	0	3802	1086	38	0	2098	0	CPEB3	10	94000047	In_Frame_Del	DEL	GCT	TCGA-FE-A3PC-01A-11D-A21Z-08		94000047	41534700	21	5990											
ARL3	403	broad.mit.edu	37	10	104465155	104465155	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:104465155G>A	ENST00000260746.5	-	2	226	c.95C>T	c.(94-96)aCt>aTt	p.T32I		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	32					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CTTCAGAAGAGTGGTCTTGCC	0.502																																						uc001kwa.3																			0				large_intestine(2)	2						c.(94-96)aCt>aTt		Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.							157	119	132					10																	104465155		2203	4300	6503	SO:0001583	missense	403				cell cycle|cytokinesis|small GTPase mediated signal transduction	Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding	g.chr10:104465155G>A	U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.95C>T	10.37:g.104465155G>A	ENSP00000260746:p.Thr32Ile		Somatic					p.T32I	NM_004311	NP_004302	WXS	Illumina GAIIx	Phase_I	P36405	ARL3_HUMAN		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)	1	253	-		Colorectal(252;0.122)	32					B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	ENST00000260746.5	37	c.95C>T	CCDS7538.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148847	0.94603	.	.	ENSG00000138175	ENST00000260746	D	0.89810	-2.57	5.88	5.88	0.94601	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	H	0.99847	4.84	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.98886	1.0771	10	0.87932	D	0	-10.318	20.2371	0.98361	0.0:0.0:1.0:0.0	.	32	P36405	ARL3_HUMAN	I	32	ENSP00000260746:T32I	ENSP00000260746:T32I	T	-	2	0	ARL3	104455145	1.000000	0.71417	0.808000	0.32385	0.994000	0.84299	9.835000	0.99442	2.788000	0.95919	0.555000	0.69702	ACT		0.502	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311		5	108	0	0	0	1	0	5	108					A	104465155	G	A	104465155	3	1	352	1	0	0	0	0	1	0	0	0	935	1029	36	2	473	2	ARL3	10	104465155	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	10465108	104465155	31069592	22	5991											
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						uc010qvs.2																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly		Somatic				NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	p.E611G	NM_138329	NP_612202	WXS	Illumina GAIIx	Phase_I	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1832	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	182	0	0	0	1	0	4	182					G	281566	A	G	281566	3	3	352	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		281566	134724950	23	5992											
OR5AS1	219447	broad.mit.edu	37	11	55798723	55798723	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:55798723T>C	ENST00000313555.1	+	1	829	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGTGGCAGTGTTTTATACTGT	0.378																																						uc010riw.2																			0		p.F277Y(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(829-831)Ttt>Ctt		Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.							76	69	72					11																	55798723		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798723T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.829T>C	11.37:g.55798723T>C	ENSP00000324111:p.Phe277Leu		Somatic					p.F277L	NM_001001921	NP_001001921	WXS	Illumina GAIIx	Phase_I	Q8N127	O5AS1_HUMAN			0	829	+	Esophageal squamous(21;0.00693)		277					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.829T>C	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856140	0.32791	.	.	ENSG00000181785	ENST00000313555	T	0.00032	8.88	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34338	U	0.004053	T	0.00144	0.0004	L	0.31926	0.97	0.09310	N	1	B	0.28605	0.217	B	0.34991	0.193	T	0.29701	-1.0003	10	0.72032	D	0.01	.	4.5333	0.12015	0.1715:0.0918:0.0:0.7367	.	277	Q8N127	O5AS1_HUMAN	L	277	ENSP00000324111:F277L	ENSP00000324111:F277L	F	+	1	0	OR5AS1	55555299	0.000000	0.05858	0.881000	0.34555	0.677000	0.39632	-0.134000	0.10436	1.865000	0.54081	0.472000	0.43445	TTT		0.378	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		36	43	0	0	0	1	0	36	43					C	55798723	T	C	55798723	3	2	352	1	0	0	0	0	1	0	0	0	11146	1725	60	3	831	3	OR5AS1	11	55798723	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	55517157	55798723	79207793	24	5993											
ETS1	2113	broad.mit.edu	37	11	128360384	128360384	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:128360384G>C	ENST00000319397.6	-	2	479	c.170C>G	c.(169-171)aCt>aGt	p.T57S	ETS1_ENST00000531611.1_Missense_Mutation_p.T57S|ETS1_ENST00000345075.4_Missense_Mutation_p.T57S|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Missense_Mutation_p.T57S|ETS1_ENST00000392668.4_Missense_Mutation_p.T101S	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	57	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)		CTGTTCTTTAGTGAAACCACT	0.413																																						uc001qej.2																			0		p.N101N(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						c.(301-303)aCt>aGt		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.							141	129	133					11																	128360384		2201	4297	6498	SO:0001583	missense	2113				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|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.chr11:128360384G>C		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.170C>G	11.37:g.128360384G>C	ENSP00000324578:p.Thr57Ser		Somatic				ETS1_uc010sbs.1_Missense_Mutation_p.T57S|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.T57S	p.T101S	NM_001143820	NP_001137292	WXS	Illumina GAIIx	Phase_I	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	387	-	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)	57			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.302C>G	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492022	0.26774	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.65	2.48	0.30137	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.283649	0.37955	N	0.001877	T	0.20455	0.0492	N	0.20986	0.625	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.04454	-1.0950	10	0.14656	T	0.56	.	16.2174	0.82238	0.0:0.3758:0.6242:0.0	.	57;57;101	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	S	57;101;57;57;57	ENSP00000340485:T57S;ENSP00000376436:T101S;ENSP00000435666:T57S;ENSP00000324578:T57S;ENSP00000433500:T57S	ENSP00000324578:T57S	T	-	2	0	ETS1	127865594	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	5.323000	0.65858	0.684000	0.31448	0.563000	0.77884	ACT		0.413	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		8	110	0	0	0	1	0	8	110					C	128360384	G	C	128360384	3	2	352	1	0	0	0	0	1	0	0	0	5275	1029	36	4	1183	4	ETS1	11	128360384	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	72561661	128360384	6646132	25	5994											
COL2A1	1280	broad.mit.edu	37	12	48391978	48391978	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr12:48391978T>C	ENST00000380518.3	-	4	480	c.316A>G	c.(316-318)Aaa>Gaa	p.K106E	COL2A1_ENST00000337299.6_Missense_Mutation_p.K37E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	106					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)	GGTTCTCCTTTCTGTCCCTGA	0.483																																						uc001rqu.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.(316-318)Aaa>Gaa		Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	Collagenase(DB00048)						150	143	145					12																	48391978		2203	4300	6503	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.chr12:48391978T>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.316A>G	12.37:g.48391978T>C	ENSP00000369889:p.Lys106Glu		Somatic				COL2A1_uc001rqv.3_Missense_Mutation_p.K37E	p.K106E	NM_001844	NP_001835	WXS	Illumina GAIIx	Phase_I	P02458	CO2A1_HUMAN			3	497	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	106					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.316A>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946233	0.73672	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.96522	-4.04;-4.04	5.04	5.04	0.67666	.	.	.	.	.	D	0.97723	0.9253	M	0.77486	2.375	0.80722	D	1	D;D	0.63880	0.974;0.993	D;D	0.68192	0.953;0.956	D	0.98479	1.0604	9	0.87932	D	0	.	14.0685	0.64847	0.0:0.0:0.0:1.0	.	37;106	P02458-1;P02458	.;CO2A1_HUMAN	E	106;37	ENSP00000369889:K106E;ENSP00000338213:K37E	ENSP00000338213:K37E	K	-	1	0	COL2A1	46678245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.678000	0.84035	2.047000	0.60756	0.454000	0.30748	AAA		0.483	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	105	0	0	0	1	0	6	105					C	48391978	T	C	48391978	3	2	352	1	0	0	0	0	1	0	0	0	3687	1792	62	3	4351	3	COL2A1	12	48391978	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08		48391978	85459917	26	5995											
FNDC3A	22862	broad.mit.edu	37	13	49765500	49765500	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr13:49765500C>A	ENST00000492622.2	+	19	2511	c.2206C>A	c.(2206-2208)Cgt>Agt	p.R736S	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R680S|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R736S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	736	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTCAGACTACGTGCAGCTAA	0.363																																						uc001vcm.3																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2206-2208)Cgt>Agt		Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.							96	97	97					13																	49765500		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49765500C>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2206C>A	13.37:g.49765500C>A	ENSP00000417257:p.Arg736Ser		Somatic				FNDC3A_uc001vcn.3_Missense_Mutation_p.R736S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.R680S	p.R736S	NM_001079673	NP_001073141	WXS	Illumina GAIIx	Phase_I	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	18	2511	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	736			Fibronectin type-III 5.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2206C>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360043	0.41801	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58210	0.35;0.35;0.35	5.47	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.280994	0.28933	N	0.013661	T	0.53254	0.1785	L	0.48260	1.515	0.34747	D	0.731335	B;B	0.26577	0.153;0.048	B;B	0.40134	0.32;0.09	T	0.60541	-0.7243	10	0.25106	T	0.35	0.0845	13.7485	0.62890	0.2778:0.7222:0.0:0.0	.	680;736	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	S	736;672;736;680	ENSP00000417257:R736S;ENSP00000441831:R736S;ENSP00000381362:R680S	ENSP00000338579:R672S	R	+	1	0	FNDC3A	48663501	0.994000	0.37717	0.471000	0.27229	0.973000	0.67179	3.218000	0.51192	1.270000	0.44297	0.655000	0.94253	CGT		0.363	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		3	100	0	0	0	1	0	3	100					A	49765500	C	A	49765500	3	1	352	1	0	0	0	0	1	0	0	0	5969	536	19	4	2287	4	FNDC3A	13	49765500	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08		49765500	65404378	27	5996											
TPPP2	122664	broad.mit.edu	37	14	21500190	21500190	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:21500190T>C	ENST00000321760.6	+	4	615	c.467T>C	c.(466-468)gTg>gCg	p.V156A	RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000530140.2_Missense_Mutation_p.V156A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	156						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)		ACAGGCTATGTGAGTGGTTAC	0.542																																						uc001vzh.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(466-468)gTg>gCg		Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.							202	154	170					14																	21500190		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21500190T>C	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 8"	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.467T>C	14.37:g.21500190T>C	ENSP00000317595:p.Val156Ala		Somatic				NDRG2_uc010tll.2_Intron	p.V156A	NM_173846	NP_776245	WXS	Illumina GAIIx	Phase_I	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)	3	655	+	all_cancers(95;0.000759)		156					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.467T>C	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657039	0.67586	.	.	ENSG00000179636	ENST00000321760;ENST00000530140	T;T	0.59083	0.29;0.29	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.92026	3.265	0.80722	D	1	D	0.64830	0.994	D	0.85130	0.997	D	0.83917	0.0299	10	0.87932	D	0	-5.5496	12.0841	0.53688	0.0:0.0:0.0:1.0	.	156	P59282	TPPP2_HUMAN	A	156	ENSP00000317595:V156A;ENSP00000435356:V156A	ENSP00000317595:V156A	V	+	2	0	TPPP2	20570030	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.849000	0.86908	2.011000	0.59026	0.533000	0.62120	GTG		0.542	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		4	112	0	0	0	1	0	4	112					C	21500190	T	C	21500190	3	2	352	1	0	0	0	0	1	0	0	0	16411	1696	59	3	477	3	TPPP2	14	21500190	Missense_Mutation	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08		21500190	85849350	28	5997											
C14orf106	55320	broad.mit.edu	37	14	45687540	45687540	+	Silent	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:45687540T>C	ENST00000310806.4	-	12	3245	c.2787A>G	c.(2785-2787)aaA>aaG	p.K929K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	929	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K929K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTGGGATCCTTTTCCTCTGG	0.438																																						uc001wwf.3																			1	Substitution - coding silent(1)	p.K929K(2)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2785-2787)aaA>aaG		Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.							135	131	132					14																	45687540		2203	4300	6503	SO:0001819	synonymous_variant	55320				CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687540T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"kinetochore null 2 homolog (C. elegans)"		"chromosome 14 open reading frame 106"	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2787A>G	14.37:g.45687540T>C			Somatic					p.K929K	NM_018353	NP_060823	WXS	Illumina GAIIx	Phase_I	Q6P0N0	M18BP_HUMAN			11	3246	-			929			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	c.2787A>G	CCDS9684.1																																																																																				0.438	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			3	172	0	0	0	1	0	3	172					C	45687540	T	C	45687540	2	2	352	1	0	0	0	0	0	0	0	1	1738	1606	56	3		3	C14orf106	14	45687540	Silent	SNP	T	TCGA-FE-A3PC-01A-11D-A21Z-08	24187350	45687540	61662000	29	5998											
SYNE2	23224	broad.mit.edu	37	14	64457230	64457230	+	Silent	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:64457230A>G	ENST00000344113.4	+	20	2627	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	SYNE2_ENST00000554584.1_Silent_p.Q805Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.Q805Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	805					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)			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)		AGTCCTTTCAACATGTTCTCA	0.358																																						uc001xgl.3																			0				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.(2413-2415)caA>caG		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							109	106	106					14																	64457230		1839	4102	5941	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64457230A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2415A>G	14.37:g.64457230A>G			Somatic				SYNE2_uc001xgm.3_Silent_p.Q805Q|SYNE2_uc021ruh.1_Silent_p.Q805Q	p.Q805Q	NM_182914	NP_878918	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	19	2645	+			805					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2415A>G	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	169	0	0	0	1	0	7	169					G	64457230	A	G	64457230	2	3	352	1	0	0	0	0	0	0	0	1	15443	40	2	3		3	SYNE2	14	64457230	Silent	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	18769690	64457230	42892310	30	5999											
ZNF500	26048	broad.mit.edu	37	16	4810510	4810510	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:4810510G>A	ENST00000219478.6	-	5	1042	c.743C>T	c.(742-744)gCg>gTg	p.A248V	ZNF500_ENST00000545009.1_Missense_Mutation_p.A248V			O60304	ZN500_HUMAN	zinc finger protein 500	248	KRAB.				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(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCAGCGGCGCGTCCCGCTG	0.577																																						uc002cxp.1																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(742-744)gCg>gTg		Homo sapiens zinc finger protein 500 (ZNF500), mRNA.							116	97	104					16																	4810510		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4810510G>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.743C>T	16.37:g.4810510G>A	ENSP00000219478:p.Ala248Val		Somatic				ZNF500_uc002cxo.1_Missense_Mutation_p.A40V|ZNF500_uc010uxt.1_Missense_Mutation_p.A248V	p.A248V	NM_021646	NP_067678	WXS	Illumina GAIIx	Phase_I	O60304	ZN500_HUMAN			4	990	-			248			KRAB.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.743C>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.740259	0.00675	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.05319	3.54;3.46	3.16	-6.33	0.01988	Krueppel-associated box (1);	.	.	.	.	T	0.01870	0.0059	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46652	-0.9176	9	0.13470	T	0.59	.	5.8128	0.18475	0.3214:0.4054:0.2732:0.0	.	248;248	B4DNN9;O60304	.;ZN500_HUMAN	V	248	ENSP00000445714:A248V;ENSP00000219478:A248V	ENSP00000219478:A248V	A	-	2	0	ZNF500	4750511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.117000	0.03283	-1.846000	0.01175	-2.214000	0.00298	GCG		0.577	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		26	106	0	0	0	1	0	26	106					A	4810510	G	A	4810510	3	1	352	1	0	0	0	0	1	0	0	0	17945	1087	38	1	707	1	ZNF500	16	4810510	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08		4810510	85544243	31	6000											
ANKS4B	257629	broad.mit.edu	37	16	21261647	21261647	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:21261647G>A	ENST00000311620.5	+	2	833	c.760G>A	c.(760-762)Gca>Aca	p.A254T		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	254					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCAGTTGTCAGCAGAGGAGGA	0.488																																						uc010bwp.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(760-762)Gca>Aca		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.							104	112	109					16																	21261647		2089	4212	6301	SO:0001583	missense	257629							g.chr16:21261647G>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.760G>A	16.37:g.21261647G>A	ENSP00000308772:p.Ala254Thr		Somatic				CRYM_uc010bwq.1_Intron	p.A254T	NM_145865	NP_665872	WXS	Illumina GAIIx	Phase_I	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	1	803	+			254						Missense_Mutation	SNP	ENST00000311620.5	37	c.760G>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	9.580	1.123353	0.20959	.	.	ENSG00000175311	ENST00000311620	T	0.43294	0.95	5.77	3.82	0.43975	.	1.097350	0.06732	N	0.776849	T	0.39410	0.1077	L	0.51422	1.61	0.09310	N	0.999999	B	0.23937	0.094	B	0.16722	0.016	T	0.30937	-0.9961	10	0.23302	T	0.38	3.2356	11.2026	0.48749	0.1499:0.0:0.8501:0.0	.	254	Q8N8V4	ANS4B_HUMAN	T	254	ENSP00000308772:A254T	ENSP00000308772:A254T	A	+	1	0	ANKS4B	21169148	0.498000	0.26075	0.232000	0.24009	0.760000	0.43138	2.080000	0.41586	0.792000	0.33850	0.591000	0.81541	GCA		0.488	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		3	102	0	0	0	1	0	3	102					A	21261647	G	A	21261647	3	1	352	1	0	0	0	0	1	0	0	0	691	971	34	2	766	2	ANKS4B	16	21261647	Missense_Mutation	SNP	G	TCGA-FE-A3PC-01A-11D-A21Z-08	16451137	21261647	69093106	32	6001											
MYO1D	4642	broad.mit.edu	37	17	31082524	31082524	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:31082524A>T	ENST00000318217.5	-	11	1757	c.1453T>A	c.(1453-1455)Ttt>Att	p.F485I	MYO1D_ENST00000394649.4_Missense_Mutation_p.F397I|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.F485I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	485	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGGCTGGAAAAATGGGCGTGT	0.398																																						uc002hho.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1453-1455)Ttt>Att		Homo sapiens myosin ID (MYO1D), mRNA.							117	106	110					17																	31082524		2203	4300	6503	SO:0001583	missense	4642					myosin complex	ATP binding|actin binding|calmodulin binding	g.chr17:31082524A>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1453T>A	17.37:g.31082524A>T	ENSP00000324527:p.Phe485Ile		Somatic				MYO1D_uc002hhp.1_Missense_Mutation_p.F485I	p.F485I	NM_015194	NP_056009	WXS	Illumina GAIIx	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		10	1465	-			485			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1453T>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076572	0.76415	.	.	ENSG00000176658	ENST00000318217	D	0.90133	-2.62	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.188928	0.25081	U	0.033286	D	0.89378	0.6698	L	0.49126	1.545	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.30179	0.112;0.112	D	0.86396	0.1739	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	396;485	Q7Z3N6;O94832	.;MYO1D_HUMAN	I	485	ENSP00000324527:F485I	ENSP00000324527:F485I	F	-	1	0	MYO1D	28106637	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TTT		0.398	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			11	105	0	0	0	1	0	11	105					T	31082524	A	T	31082524	3	4	352	1	0	0	0	0	1	0	0	0	10071	14	1	5	1615	5	MYO1D	17	31082524	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		31082524	50112686	33	6002											
CDC42EP4	23580	broad.mit.edu	37	17	71281678	71281678	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:71281678C>T	ENST00000335793.3	-	2	1356	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CDC42EP4_ENST00000581014.1_Silent_p.A53A|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R251H			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	321					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGCAGGGCTGCGCTCCTCCAG	0.672																																						uc002jjn.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(961-963)cGc>cAc		Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.							38	45	42					17																	71281678		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281678C>T	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"Cdc42 effector protein 4", "binder of Rho GTPases 4"	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.962G>A	17.37:g.71281678C>T	ENSP00000338258:p.Arg321His		Somatic				CDC42EP4_uc002jjo.3_Missense_Mutation_p.R321H|CDC42EP4_uc002jjp.1_Missense_Mutation_p.R251H|CDC42EP4_uc021ucn.1_Missense_Mutation_p.R321H	p.R321H	NM_012121	NP_036253	WXS	Illumina GAIIx	Phase_I	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		1	1109	-			321					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.962G>A	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504839	0.64410	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.36699	1.26;1.24	4.29	4.29	0.51040	.	0.214022	0.31188	N	0.008083	T	0.43077	0.1231	M	0.63428	1.95	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.51324	0.666;0.517	T	0.34576	-0.9823	10	0.46703	T	0.11	-21.0323	9.4545	0.38747	0.0:0.8999:0.0:0.1001	.	251;321	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	H	321;251	ENSP00000338258:R321H;ENSP00000404270:R251H	ENSP00000338258:R321H	R	-	2	0	CDC42EP4	68793273	0.973000	0.33851	1.000000	0.80357	0.869000	0.49853	-0.083000	0.11286	2.229000	0.72834	0.484000	0.47621	CGC		0.672	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		3	83	0	0	0	1	0	3	83					T	71281678	C	T	71281678	3	4	352	1	0	0	0	0	1	0	0	0	3078	768	27	1	112	1	CDC42EP4	17	71281678	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	40199154	71281678	9913532	34	6003											
DNM2	1785	broad.mit.edu	37	19	10930718	10930718	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:10930718C>T	ENST00000355667.6	+	16	1814	c.1734C>T	c.(1732-1734)ggC>ggT	p.G578G	DNM2_ENST00000389253.4_Silent_p.G578G|DNM2_ENST00000408974.4_Silent_p.G574G|MIR199A1_ENST00000385019.1_RNA|DNM2_ENST00000314646.5_Silent_p.G578G|DNM2_ENST00000359692.6_Silent_p.G574G|DNM2_ENST00000585892.1_Silent_p.G578G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGAGAAGGGCTTCATGTCCA	0.572			"F, N, Splice, Mis, O"		ETP ALL																																	uc002mpt.2				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1732-1734)ggC>ggT		Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.							173	152	159					19																	10930718		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10930718C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1734C>T	19.37:g.10930718C>T			Somatic				DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.G578G|DNM2_uc010dxl.2_Silent_p.G578G|DNM2_uc002mpu.2_Silent_p.G574G|DNM2_uc002mpv.2_Silent_p.G574G|DNM2_uc002mpw.3_Silent_p.G307G|MIR199A1_uc010xlj.1_5'Flank	p.G578G	NM_001005360	NP_001005360	WXS	Illumina GAIIx	Phase_I	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		15	1924	+			578			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1734C>T	CCDS45968.1																																																																																				0.572	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		20	161	0	0	0	1	0	20	161					T	10930718	C	T	10930718	2	4	352	1	0	0	0	0	0	0	0	1	4672	784	28	2		2	DNM2	19	10930718	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08		10930718	48198265	35	6004											
SYDE1	85360	broad.mit.edu	37	19	15224522	15224522	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:15224522C>T	ENST00000342784.2	+	8	1987	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	SYDE1_ENST00000600440.1_Silent_p.A585A|SYDE1_ENST00000600252.1_Silent_p.A309A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	652					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACCGCTACGCCGGCGACTGGA	0.697																																						uc002nah.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1954-1956)gcC>gcT		Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.							43	54	50					19																	15224522		2203	4298	6501	SO:0001819	synonymous_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224522C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1956C>T	19.37:g.15224522C>T			Somatic				SYDE1_uc002nai.1_Silent_p.A585A|SYDE1_uc002naj.1_Silent_p.A309A	p.A652A	NM_033025	NP_149014	WXS	Illumina GAIIx	Phase_I	Q6ZW31	SYDE1_HUMAN			7	1987	+			652					Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	c.1956C>T	CCDS12324.1																																																																																				0.697	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		5	108	0	0	0	1	0	5	108					T	15224522	C	T	15224522	2	4	352	1	0	0	0	0	0	0	0	1	15432	639	23	1		1	SYDE1	19	15224522	Silent	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	4293804	15224522	43904461	36	6005											
TEX101	83639	broad.mit.edu	37	19	43922526	43922526	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:43922526C>A	ENST00000598265.1	+	6	893	c.727C>A	c.(727-729)Cca>Aca	p.P243T	TEX101_ENST00000602198.1_Missense_Mutation_p.P261T|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.P261T	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	243						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTGCTGCTGCCATCATTTAT	0.498																																						uc002owk.3																			0				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(781-783)Cca>Aca		Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.							81	80	80					19																	43922526		2203	4300	6503	SO:0001583	missense	83639					anchored to membrane|plasma membrane		g.chr19:43922526C>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.727C>A	19.37:g.43922526C>A	ENSP00000472769:p.Pro243Thr		Somatic				TEX101_uc010xwo.2_Missense_Mutation_p.P243T	p.P261T	NM_031451	NP_001123483	WXS	Illumina GAIIx	Phase_I	Q9BY14	TX101_HUMAN			8	1342	+		Prostate(69;0.0199)	243					Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	c.781C>A	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	C	5.603	0.295973	0.10622	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.09445	2.98	3.8	1.63	0.23807	.	2.930330	0.01206	N	0.007717	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B;P	0.36874	0.436;0.572	B;B	0.27380	0.036;0.079	T	0.30475	-0.9977	10	0.08179	T	0.78	1.2864	5.3226	0.15889	0.0:0.6793:0.2078:0.1129	.	243;261	Q9BY14;Q9BY14-2	TX101_HUMAN;.	T	261;256	ENSP00000253435:P261T	ENSP00000253435:P261T	P	+	1	0	TEX101	48614366	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.176000	0.16782	0.566000	0.29273	-0.176000	0.13171	CCA		0.498	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		19	103	0	0	0	1	0	19	103					A	43922526	C	A	43922526	3	1	352	1	0	0	0	0	1	0	0	0	15770	739	26	4	803	4	TEX101	19	43922526	Missense_Mutation	SNP	C	TCGA-FE-A3PC-01A-11D-A21Z-08	28698004	43922526	15206457	37	6006											
MYBPC2	4606	broad.mit.edu	37	19	50944246	50944246	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:50944246A>G	ENST00000357701.5	+	8	733	c.682A>G	c.(682-684)Aaa>Gaa	p.K228E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	228					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)		CGAGTACGAGAAAATCGCCTT	0.542																																						uc002psf.2																			0				breast(1)	1						c.(682-684)Aaa>Gaa		Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.							42	45	44					19																	50944246		2091	4246	6337	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944246A>G		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.682A>G	19.37:g.50944246A>G	ENSP00000350332:p.Lys228Glu		Somatic					p.K228E	NM_004533	NP_004524	WXS	Illumina GAIIx	Phase_I	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	7	733	+		all_neural(266;0.057)	228					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.682A>G	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.711968	0.48517	.	.	ENSG00000086967	ENST00000357701	T	0.62105	0.05	3.33	3.33	0.38152	.	0.839991	0.09491	U	0.794934	T	0.57636	0.2067	L	0.47716	1.5	0.29094	N	0.881873	B	0.34372	0.451	B	0.41946	0.371	T	0.51529	-0.8694	10	0.19147	T	0.46	.	7.66	0.28398	0.6402:0.3598:0.0:0.0	.	228	Q14324	MYPC2_HUMAN	E	228	ENSP00000350332:K228E	ENSP00000350332:K228E	K	+	1	0	MYBPC2	55636058	0.831000	0.29352	0.989000	0.46669	0.961000	0.63080	1.667000	0.37471	1.765000	0.52091	0.248000	0.18094	AAA		0.542	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	27	0	0	0	1	0	5	27					G	50944246	A	G	50944246	3	3	352	1	0	0	0	0	1	0	0	0	10012	247	9	3	712	3	MYBPC2	19	50944246	Missense_Mutation	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08	7021720	50944246	8184737	38	6007											
PIM2	11040	broad.mit.edu	37	X	48772508	48772508	+	Silent	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chrX:48772508A>G	ENST00000376509.4	-	4	573	c.384T>C	c.(382-384)taT>taC	p.Y128Y	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCTCTGTGATATAGTCAAAGA	0.597																																						uc004dls.3																			0				lung(3)|stomach(1)	4						c.(382-384)taT>taC		Homo sapiens pim-2 oncogene (PIM2), mRNA.							43	39	40					X																	48772508		2203	4300	6503	SO:0001819	synonymous_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772508A>G	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.384T>C	X.37:g.48772508A>G			Somatic					p.Y128Y	NM_006875	NP_006866	WXS	Illumina GAIIx	Phase_I	Q9P1W9	PIM2_HUMAN			3	686	-			128			Protein kinase.		A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	c.384T>C	CCDS14312.1																																																																																				0.597	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			3	64	0	0	0	1	0	3	64					G	48772508	A	G	48772508	2	3	352	1	0	0	0	0	0	0	0	1	11928	456	16	3		3	PIM2	23	48772508	Silent	SNP	A	TCGA-FE-A3PC-01A-11D-A21Z-08		48772508	106498052	39	6008											
IFI44L	10964	broad.mit.edu	37	1	79095498	79095498	+	Silent	SNP	G	G	T			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:79095498G>T	ENST00000370751.5	+	4	800	c.621G>T	c.(619-621)ggG>ggT	p.G207G	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	207					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTCCAGTTGGGTCTGGAAAGT	0.453																																						uc010oro.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(619-621)ggG>ggT		Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.							127	125	125					1																	79095498		2203	4300	6503	SO:0001819	synonymous_variant	10964					cytoplasm		g.chr1:79095498G>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.621G>T	1.37:g.79095498G>T			Somatic				IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	p.G207G	NM_006820	NP_006811	WXS	Illumina GAIIx	Phase_I	Q53G44	IF44L_HUMAN			3	800	+			207					Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	c.621G>T	CCDS687.2																																																																																				0.453	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		3	38	0	0	0	1	0	3	38					T	79095498	G	T	79095498	2	4	353	1	0	0	0	0	0	0	0	1	7518	1248	44	4		4	IFI44L	1	79095498	Silent	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		79095498	170155123	1	6009											
OR6K2	81448	broad.mit.edu	37	1	158669597	158669597	+	Missense_Mutation	SNP	C	C	G	rs141159720	byFrequency	TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:158669597C>G	ENST00000359610.2	-	1	889	c.846G>C	c.(844-846)ttG>ttC	p.L282F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAAGGGAGACAAAACTGCAA	0.403																																						uc001fsu.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(844-846)ttG>ttC		Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.							99	95	96					1																	158669597		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669597C>G	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.846G>C	1.37:g.158669597C>G	ENSP00000352626:p.Leu282Phe		Somatic					p.L282F	NM_001005279	NP_001005279	WXS	Illumina GAIIx	Phase_I	Q8NGY2	OR6K2_HUMAN			0	846	-	all_hematologic(112;0.0378)		282					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.846G>C	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734427	0.30774	.	.	ENSG00000196171	ENST00000359610	T	0.00202	8.56	4.94	0.778	0.18543	GPCR, rhodopsin-like superfamily (1);	0.526437	0.14024	N	0.346593	T	0.00073	0.0002	L	0.60455	1.87	0.09310	N	1	B	0.29671	0.254	B	0.41202	0.35	T	0.29941	-0.9995	10	0.66056	D	0.02	-7.6189	3.3173	0.07038	0.1399:0.5727:0.1359:0.1515	.	282	Q8NGY2	OR6K2_HUMAN	F	282	ENSP00000352626:L282F	ENSP00000352626:L282F	L	-	3	2	OR6K2	156936221	0.000000	0.05858	0.087000	0.20705	0.912000	0.54170	-1.640000	0.02009	-0.019000	0.14055	0.655000	0.94253	TTG		0.403	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		24	28	0	0	0	1	0	24	28					G	158669597	C	G	158669597	3	3	353	1	0	0	0	0	1	0	0	0	11202	477	17	4	132	4	OR6K2	1	158669597	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08	79574099	158669597	90581024	2	6010											
CACNA1E	777	broad.mit.edu	37	1	181452990	181452990	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr1:181452990C>T	ENST00000367573.2	+	1	110	c.110C>T	c.(109-111)gCc>gTc	p.A37V	CACNA1E_ENST00000360108.3_Missense_Mutation_p.A37V|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A37V|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	37					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGCAGGCGGCCGCCTACAAG	0.652																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(109-111)gCc>gTc		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							50	58	55					1																	181452990		1884	4088	5972	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181452990C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.110C>T	1.37:g.181452990C>T	ENSP00000356545:p.Ala37Val		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.A37V|CACNA1E_uc009wxs.3_Missense_Mutation_p.A37V	p.A37V	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			0	305	+			37					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.110C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296198	0.60086	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97209	-4.29;-3.89;-3.88;-3.88;-3.89	5.67	5.67	0.87782	.	0.076709	0.49916	D	0.000121	D	0.95723	0.8609	L	0.34521	1.04	0.80722	D	1	P	0.50819	0.939	P	0.50314	0.637	D	0.94469	0.7683	10	0.25751	T	0.34	.	17.2721	0.87105	0.0:1.0:0.0:0.0	.	37	Q15878-3	.	V	37	ENSP00000432038:A37V;ENSP00000356542:A37V;ENSP00000434814:A37V;ENSP00000353222:A37V;ENSP00000356545:A37V	ENSP00000353222:A37V	A	+	2	0	CACNA1E	179719613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.922000	0.56462	2.667000	0.90743	0.561000	0.74099	GCC		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		4	145	0	0	0	1	0	4	145					T	181452990	C	T	181452990	3	4	353	1	0	0	0	0	1	0	0	0	2542	739	26	2	112	2	CACNA1E	1	181452990	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08	22783393	181452990	67797631	3	6011											
TMEM178	130733	broad.mit.edu	37	2	39934227	39934227	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr2:39934227G>A	ENST00000281961.2	+	3	609	c.553G>A	c.(553-555)Gta>Ata	p.V185I	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	185						integral component of membrane (GO:0016021)											CGGCATGGCCGTAGCCGTCCT	0.488																																						uc002rrt.3																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(553-555)Gta>Ata		Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.							73	66	68					2																	39934227		2203	4300	6503	SO:0001583	missense	130733					integral to membrane		g.chr2:39934227G>A	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.553G>A	2.37:g.39934227G>A	ENSP00000281961:p.Val185Ile		Somatic				TMEM178_uc021vgg.1_Missense_Mutation_p.V3I|TMEM178_uc010fam.2_Intron	p.V185I	NM_152390	NP_689603	WXS	Illumina GAIIx	Phase_I	Q8NBL3	TM178_HUMAN			2	633	+		all_hematologic(82;0.248)	185					Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.553G>A	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777080	0.70107	.	.	ENSG00000152154	ENST00000281961	T	0.67523	-0.27	5.19	5.19	0.71726	.	0.110586	0.64402	D	0.000013	T	0.55561	0.1928	L	0.34521	1.04	0.40926	D	0.98435	B	0.24618	0.107	B	0.19946	0.027	T	0.52495	-0.8568	9	.	.	.	-9.3194	16.2261	0.82293	0.0:0.0:1.0:0.0	.	185	Q8NBL3	TM178_HUMAN	I	185	ENSP00000281961:V185I	.	V	+	1	0	TMEM178	39787731	1.000000	0.71417	0.112000	0.21494	0.878000	0.50629	8.818000	0.91991	2.437000	0.82529	0.655000	0.94253	GTA		0.488	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		3	75	0	0	0	1	0	3	75					A	39934227	G	A	39934227	3	1	353	1	0	0	0	0	1	0	0	0	16092	1145	40	1	563	1	TMEM178	2	39934227	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		39934227	203265146	4	6012											
ROPN1B	152015	broad.mit.edu	37	3	125701153	125701153	+	Missense_Mutation	SNP	C	C	T	rs376987830		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr3:125701153C>T	ENST00000514116.1	+	6	752	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146L|ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54L			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	146					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GAGGTCTTATCATGTGACCAC	0.428																																						uc003eih.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8						c.(436-438)tCa>tTa		Homo sapiens rhophilin associated tail protein 1B (ROPN1B), mRNA.							156	132	140					3																	125701153		2203	4300	6503	SO:0001583	missense	152015				Rho protein signal transduction|acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity	g.chr3:125701153C>T	AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"ropporin, rhophilin associated protein 1B"				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.437C>T	3.37:g.125701153C>T	ENSP00000426271:p.Ser146Leu		Somatic				ROPN1B_uc010hsb.3_Missense_Mutation_p.S146L|ROPN1B_uc010hsc.3_Missense_Mutation_p.S54L	p.S146L	NM_001012337	NP_001012337	WXS	Illumina GAIIx	Phase_I	Q9BZX4	ROP1B_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	665	+			146					D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	c.437C>T	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	C	8.592	0.884702	0.17540	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.25749	1.78;1.78;2.09;2.09	2.2	2.2	0.27929	.	0.124278	0.36374	N	0.002628	T	0.16896	0.0406	L	0.38175	1.15	0.27017	N	0.964559	B	0.33238	0.403	B	0.28232	0.087	T	0.18116	-1.0347	10	0.72032	D	0.01	-20.916	8.0396	0.30513	0.0:1.0:0.0:0.0	.	146	Q9BZX4	ROP1B_HUMAN	L	146;146;54;54	ENSP00000426271:S146L;ENSP00000251776:S146L;ENSP00000421662:S54L;ENSP00000424447:S54L	ENSP00000251776:S146L	S	+	2	0	ROPN1B	127183843	0.998000	0.40836	1.000000	0.80357	0.190000	0.23558	3.897000	0.56273	1.536000	0.49237	0.184000	0.17185	TCA		0.428	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337		48	96	0	0	0	1	0	48	96					T	125701153	C	T	125701153	3	4	353	1	0	0	0	0	1	0	0	0	13524	838	29	2	451	2	ROPN1B	3	125701153	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		125701153	72321277	5	6013											
C7	730	broad.mit.edu	37	5	40979879	40979879	+	Missense_Mutation	SNP	C	C	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr5:40979879C>G	ENST00000313164.9	+	17	2577	c.2218C>G	c.(2218-2220)Ctg>Gtg	p.L740V	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	740	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GATACTGCCTCTGACAGTTTG	0.413																																						uc003jmh.3																			0											c.(2218-2220)Ctg>Gtg		Homo sapiens complement component 7 (C7), mRNA.							85	84	84					5																	40979879		1950	4154	6104	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979879C>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2218C>G	5.37:g.40979879C>G	ENSP00000322061:p.Leu740Val		Somatic				C7_uc011cpn.1_Non-coding_Transcript	p.L740V	NM_000587	NP_000578	WXS	Illumina GAIIx	Phase_I	P10643	CO7_HUMAN			16	2332	+		Ovarian(839;0.0112)	740			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2218C>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579399	0.46006	.	.	ENSG00000112936	ENST00000313164	T	0.63417	-0.04	5.8	3.04	0.35103	Factor I / membrane attack complex (1);	0.397129	0.23021	N	0.052844	T	0.76709	0.4025	M	0.78801	2.425	0.33890	D	0.637252	D	0.63880	0.993	D	0.79108	0.992	T	0.81931	-0.0707	10	0.62326	D	0.03	-3.0459	10.6431	0.45604	0.0:0.7182:0.1029:0.179	.	740	P10643	CO7_HUMAN	V	740	ENSP00000322061:L740V	ENSP00000322061:L740V	L	+	1	2	C7	41015636	0.825000	0.29262	0.996000	0.52242	0.897000	0.52465	0.825000	0.27393	0.378000	0.24764	-1.255000	0.01485	CTG		0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			28	35	0	0	0	1	0	28	35					G	40979879	C	G	40979879	3	3	353	1	0	0	0	0	1	0	0	0	2375	912	32	4	2284	4	C7	5	40979879	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		40979879	139935381	6	6014											
PLEKHG1	57480	broad.mit.edu	37	6	151153024	151153024	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr6:151153024G>C	ENST00000358517.2	+	15	2988	c.2777G>C	c.(2776-2778)gGc>gCc	p.G926A	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G926A			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	926							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTAAAGAAGGCTCCTTTATG	0.572																																						uc011eem.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2953-2955)gGc>gCc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.							118	133	128					6																	151153024		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153024G>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2777G>C	6.37:g.151153024G>C	ENSP00000351318:p.Gly926Ala		Somatic				PLEKHG1_uc011eel.1_Missense_Mutation_p.G966A|PLEKHG1_uc003qny.1_Missense_Mutation_p.G926A|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G926A	p.G985A	NM_001029884	NP_001025055	WXS	Illumina GAIIx	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	14	3042	+			926					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2954G>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	g	6.794	0.515457	0.12944	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58210	0.35;0.35	5.81	-2.32	0.06745	.	0.734952	0.14514	N	0.314915	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.10450	0.003;0.003;0.005	T	0.32295	-0.9912	10	0.51188	T	0.08	.	9.7628	0.40543	0.4811:0.093:0.4259:0.0	.	733;926;926	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	A	926	ENSP00000356297:G926A;ENSP00000351318:G926A	ENSP00000351318:G926A	G	+	2	0	PLEKHG1	151194717	0.000000	0.05858	0.286000	0.24833	0.267000	0.26476	-0.434000	0.06939	-0.367000	0.08052	-0.735000	0.03563	GGC		0.572	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			129	213	0	0	0	1	0	129	213					C	151153024	G	C	151153024	3	2	353	1	0	0	0	0	1	0	0	0	12068	1203	42	4	2831	4	PLEKHG1	6	151153024	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		151153024	19962043	7	6015											
PKD1L1	168507	broad.mit.edu	37	7	47921639	47921639	+	Nonsense_Mutation	SNP	C	C	A	rs372058157		TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:47921639C>A	ENST00000289672.2	-	20	3360	c.3310G>T	c.(3310-3312)Gag>Tag	p.E1104*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1104	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGCTCTCCTCGGCACTCAAG	0.527																																						uc003tny.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3310-3312)Gag>Tag		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.							83	73	76					7																	47921639		2203	4300	6503	SO:0001587	stop_gained	168507				cell-cell adhesion	integral to membrane		g.chr7:47921639C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3310G>T	7.37:g.47921639C>A	ENSP00000289672:p.Glu1104*		Somatic					p.E1104*	NM_138295	NP_612152	WXS	Illumina GAIIx	Phase_I	Q8TDX9	PK1L1_HUMAN			19	3344	-			1104			REJ.		Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	37	c.3310G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	40	7.999105	0.98602	.	.	ENSG00000158683	ENST00000289672	.	.	.	5.24	1.28	0.21552	.	1.520230	0.03937	N	0.286218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.7817	5.916	0.19055	0.0:0.5378:0.2949:0.1673	.	.	.	.	X	1104	.	ENSP00000289672:E1104X	E	-	1	0	PKD1L1	47888164	0.001000	0.12720	0.000000	0.03702	0.099000	0.18886	1.043000	0.30316	0.022000	0.15160	-0.143000	0.13931	GAG		0.527	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		3	110	0	0	0	1	0	3	110					A	47921639	C	A	47921639	4	1	353	1	0	0	0	0	0	1	0	0	11964	893	31	4	5391	4	PKD1L1	7	47921639	Nonsense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		47921639	111217024	8	6016											
AKAP9	10142	broad.mit.edu	37	7	91730275	91730275	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:91730275A>G	ENST00000359028.2	+	45	11239	c.11014A>G	c.(11014-11016)Agg>Ggg	p.R3672G	AKAP9_ENST00000358100.2_Missense_Mutation_p.R3618G|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3668G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3672					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)			ATCTTTGAAAAGGGCAGAGGC	0.393			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		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.(11002-11004)Agg>Ggg		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							82	83	83					7																	91730275		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	g.chr7:91730275A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	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"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11014A>G	7.37:g.91730275A>G	ENSP00000351922:p.Arg3672Gly		Somatic				AKAP9_uc003ulf.3_Missense_Mutation_p.R3660G|AKAP9_uc003uli.3_Missense_Mutation_p.R3291G|AKAP9_uc003ulj.3_Missense_Mutation_p.R1438G|AKAP9_uc003ull.3_Missense_Mutation_p.R564G	p.R3668G	NM_005751	NP_005742	WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		44	11227	+	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)		3672					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11002A>G		.	.	.	.	.	.	.	.	.	.	A	15.99	2.996280	0.54147	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03580	3.95;3.95;3.96;3.88	5.42	3.01	0.34805	.	0.000000	0.41823	D	0.000817	T	0.06280	0.0162	M	0.65975	2.015	0.27887	N	0.939467	P;P;P;P;P	0.41848	0.514;0.763;0.651;0.763;0.763	B;B;B;B;B	0.39027	0.212;0.229;0.15;0.288;0.288	T	0.08827	-1.0703	10	0.72032	D	0.01	.	12.1482	0.54036	0.4736:0.5264:0.0:0.0	.	943;3672;3672;3668;3660	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	G	3668;3672;3618;3672;1514	ENSP00000348573:R3668G;ENSP00000351922:R3672G;ENSP00000350813:R3618G;ENSP00000378042:R1514G	ENSP00000348573:R3668G	R	+	1	2	AKAP9	91568211	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.356000	0.52269	1.062000	0.40625	0.528000	0.53228	AGG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	121	0	0	0	1	0	3	121					G	91730275	A	G	91730275	3	3	353	1	0	0	0	0	1	0	0	0	459	63	3	3	11180	3	AKAP9	7	91730275	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08	43808636	91730275	67408388	9	6017											
ATG9B	285973	broad.mit.edu	37	7	150714349	150714349	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr7:150714349G>A	ENST00000377974.2	-	9	2138	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.A688V|ATG9B_ENST00000444312.1_Missense_Mutation_p.A174V			Q674R7	ATG9B_HUMAN	autophagy related 9B	688					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCTGTCCCGCCGAGAGCCA	0.592																																						uc011kvc.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2062-2064)gCg>gTg		Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.							28	30	30					7																	150714349		2063	4217	6280	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150714349G>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2063C>T	7.37:g.150714349G>A	ENSP00000475005:p.Ala688Val		Somatic				ATG9B_uc003wig.4_Non-coding_Transcript	p.A688V	NM_173681	NP_775952	WXS	Illumina GAIIx	Phase_I	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	2139	-	all_neural(206;0.219)		688					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2063C>T		.	.	.	.	.	.	.	.	.	.	G	5.053	0.195507	0.09599	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.08	0.726	0.18248	.	0.298945	0.34700	N	0.003744	T	0.45716	0.1356	.	.	.	.	.	.	B	0.20887	0.049	B	0.15052	0.012	T	0.48055	-0.9068	7	0.41790	T	0.15	-2.3681	12.7549	0.57328	0.0:0.0:0.2641:0.7359	.	688	Q674R7	ATG9B_HUMAN	V	688;174;688	.	ENSP00000444232:A688V	A	-	2	0	AC010973.1	150345282	0.796000	0.28864	0.030000	0.17652	0.090000	0.18270	1.106000	0.31098	-0.187000	0.10516	0.491000	0.48974	GCG		0.592	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		3	50	0	0	0	1	0	3	50					A	150714349	G	A	150714349	3	1	353	1	0	0	0	0	1	0	0	0	1103	1087	38	1	730	1	ATG9B	7	150714349	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08	58984074	150714349	8424314	10	6018											
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000430453.2_Silent_p.P80P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					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						CTCCAACCCCTTTTTCCAGAG	0.542																																						uc001iru.4																			0		p.P159L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.							62	63	63					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C			Somatic				KIAA1217_uc001irs.3_Silent_p.P79P|KIAA1217_uc001irt.4_Silent_p.P159P|KIAA1217_uc010qcy.2_Silent_p.P159P|KIAA1217_uc010qcz.2_Silent_p.P159P|KIAA1217_uc001irv.1_Silent_p.P9P|KIAA1217_uc010qda.1_Non-coding_Transcript	p.P159P	NM_019590	NP_062536	WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			2	880	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	113	0	0	0	1	0	3	113					C	24669920	T	C	24669920	2	2	353	1	0	0	0	0	0	0	0	1	8216	1596	56	3		3	KIAA1217	10	24669920	Silent	SNP	T	TCGA-FE-A3PD-01A-11D-A21Z-08		24669920	110864827	11	6019											
ARID5B	84159	broad.mit.edu	37	10	63852302	63852302	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr10:63852302A>G	ENST00000279873.7	+	10	3490	c.3080A>G	c.(3079-3081)aAg>aGg	p.K1027R	ARID5B_ENST00000309334.5_Missense_Mutation_p.K784R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCAGGGAAAAAGGCCCGGGCA	0.607																																						uc001jlt.2																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3079-3081)aAg>aGg		Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.							64	73	70					10																	63852302		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852302A>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3080A>G	10.37:g.63852302A>G	ENSP00000279873:p.Lys1027Arg		Somatic				ARID5B_uc001jlu.2_Missense_Mutation_p.K784R	p.K1027R	NM_032199	NP_115575	WXS	Illumina GAIIx	Phase_I	Q14865	ARI5B_HUMAN			9	3536	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3080A>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082179	0.76528	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.67698	-0.21;-0.28	5.72	5.72	0.89469	.	0.045424	0.85682	D	0.000000	T	0.79405	0.4440	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81398	-0.0951	10	0.87932	D	0	-21.9925	15.9898	0.80197	1.0:0.0:0.0:0.0	.	1027	Q14865	ARI5B_HUMAN	R	1027;784	ENSP00000279873:K1027R;ENSP00000308862:K784R	ENSP00000279873:K1027R	K	+	2	0	ARID5B	63522308	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.722000	0.91452	2.182000	0.69389	0.533000	0.62120	AAG		0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		4	171	0	0	0	1	0	4	171					G	63852302	A	G	63852302	3	3	353	1	0	0	0	0	1	0	0	0	922	72	3	3	3118	3	ARID5B	10	63852302	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08	39182382	63852302	71682445	12	6020											
PIWIL4	143689	broad.mit.edu	37	11	94318686	94318686	+	Silent	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr11:94318686G>A	ENST00000299001.6	+	6	922	c.711G>A	c.(709-711)caG>caA	p.Q237Q	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	237					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAATTCCCCAGCACAAGTAGG	0.328																																						uc001pfa.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(709-711)caG>caA		Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.							103	109	107					11																	94318686		2201	4297	6498	SO:0001819	synonymous_variant	143689				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94318686G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.711G>A	11.37:g.94318686G>A			Somatic				PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	p.Q237Q	NM_152431	NP_689644	WXS	Illumina GAIIx	Phase_I	Q7Z3Z4	PIWL4_HUMAN			5	922	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	237					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.711G>A	CCDS31656.1																																																																																				0.328	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		4	191	0	0	0	1	0	4	191					A	94318686	G	A	94318686	2	1	353	1	0	0	0	0	0	0	0	1	11960	962	34	2		2	PIWIL4	11	94318686	Silent	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		94318686	40687830	13	6021											
TMEM132B	114795	broad.mit.edu	37	12	126137125	126137125	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr12:126137125A>G	ENST00000299308.3	+	8	2046	c.2038A>G	c.(2038-2040)Agg>Ggg	p.R680G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	680						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGACAAAAGGGCCATCGT	0.612																																						uc001uhe.1																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2038-2040)Agg>Ggg		Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.							64	66	65					12																	126137125		2137	4252	6389	SO:0001583	missense	114795					integral to membrane		g.chr12:126137125A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2038A>G	12.37:g.126137125A>G	ENSP00000299308:p.Arg680Gly		Somatic				TMEM132B_uc001uhf.1_Missense_Mutation_p.R192G	p.R680G	NM_052907	NP_443139	WXS	Illumina GAIIx	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	2046	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		680					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2038A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204961	0.79127	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13778	2.56;2.56	5.53	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.11623	0.0283	L	0.36672	1.1	0.58432	D	0.999997	P	0.35155	0.487	B	0.34779	0.189	T	0.12041	-1.0563	10	0.22109	T	0.4	.	12.664	0.56830	0.8617:0.1383:0.0:0.0	.	680	Q14DG7	T132B_HUMAN	G	680;192	ENSP00000299308:R680G;ENSP00000440436:R192G	ENSP00000299308:R680G	R	+	1	2	TMEM132B	124703078	1.000000	0.71417	0.898000	0.35279	0.921000	0.55340	3.785000	0.55424	0.895000	0.36342	-0.313000	0.08912	AGG		0.612	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		3	172	0	0	0	1	0	3	172					G	126137125	A	G	126137125	3	3	353	1	0	0	0	0	1	0	0	0	16043	63	3	3	2068	3	TMEM132B	12	126137125	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		126137125	7714770	14	6022											
N6AMT2	221143	broad.mit.edu	37	13	21306248	21306248	+	Silent	SNP	C	C	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr13:21306248C>G	ENST00000382758.1	-	4	287	c.240G>C	c.(238-240)gtG>gtC	p.V80V	N6AMT2_ENST00000382754.4_Silent_p.V80V			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	80						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TAGGGGCACTCACACATGCGA	0.398																																						uc001uno.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(238-240)gtG>gtC		Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.							84	87	86					13																	21306248		2202	4300	6502	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21306248C>G	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.240G>C	13.37:g.21306248C>G			Somatic				N6AMT2_uc009zzr.1_Silent_p.V80V|N6AMT2_uc001unp.2_Non-coding_Transcript	p.V80V	NM_174928	NP_777588	WXS	Illumina GAIIx	Phase_I	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	321	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	80					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.240G>C	CCDS9293.1																																																																																				0.398	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928		64	119	0	0	0	1	0	64	119					G	21306248	C	G	21306248	2	3	353	1	0	0	0	0	0	0	0	1	10115	813	29	4		4	N6AMT2	13	21306248	Silent	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		21306248	93863630	15	6023											
GPX2	2877	broad.mit.edu	37	14	65406325	65406325	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr14:65406325A>G	ENST00000389614.5	-	2	540	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	152					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TCAAAGTTCCAGGCCACATCT	0.562																																						uc021ruq.1																			0		p.W152fs*1(1)		large_intestine(2)|ovary(1)|skin(1)	4						c.(454-456)Tgg>Cgg		Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	Glutathione(DB00143)						102	99	100					14																	65406325		1955	4152	6107	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406325A>G		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.454T>C	14.37:g.65406325A>G	ENSP00000374265:p.Trp152Arg		Somatic				CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	p.W152R	NM_002083	NP_002074	WXS	Illumina GAIIx	Phase_I	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	1	541	-			152					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.454T>C	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799201	0.90538	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.26810	1.71;3.53	6.05	6.05	0.98169	Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.72669	0.3489	H	0.99783	4.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85997	0.1492	10	0.87932	D	0	-1.216	15.5757	0.76380	1.0:0.0:0.0:0.0	.	152	P18283	GPX2_HUMAN	R	152;96	ENSP00000374265:W152R;ENSP00000451721:W96R	ENSP00000374265:W152R	W	-	1	0	GPX2	64476078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.320000	0.78422	0.528000	0.53228	TGG		0.562	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			3	127	0	0	0	1	0	3	127					G	65406325	A	G	65406325	3	3	353	1	0	0	0	0	1	0	0	0	6740	188	7	3	122	3	GPX2	14	65406325	Missense_Mutation	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		65406325	41943215	16	6024											
UBN1	29855	broad.mit.edu	37	16	4920917	4920917	+	Silent	SNP	A	A	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K|UBN1_ENST00000262376.6_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	501					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K501K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522																																						uc002cyb.3																			1	Substitution - coding silent(1)	p.K501K(2)	lung(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1501-1503)aaA>aaG		Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.							72	71	72					16																	4920917		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4920917A>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1503A>G	16.37:g.4920917A>G			Somatic				UBN1_uc010uxw.2_Silent_p.K501K|UBN1_uc002cyc.3_Silent_p.K501K	p.K501K	NM_001079514	NP_058632	WXS	Illumina GAIIx	Phase_I	Q9NPG3	UBN1_HUMAN			10	1842	+			501					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.1503A>G	CCDS10525.1																																																																																				0.522	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		3	99	0	0	0	1	0	3	99					G	4920917	A	G	4920917	2	3	353	1	0	0	0	0	0	0	0	1	16889	69	3	3		3	UBN1	16	4920917	Silent	SNP	A	TCGA-FE-A3PD-01A-11D-A21Z-08		4920917	85433836	17	6025											
MSI2	124540	broad.mit.edu	37	17	55752345	55752345	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr17:55752345C>T	ENST00000284073.2	+	12	1012	c.803C>T	c.(802-804)gCg>gTg	p.A268V	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.A207V|MSI2_ENST00000416426.2_Missense_Mutation_p.A264V	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	268						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCCAACCCGGCGCGGCCCGGA	0.642			T	HOXA9	CML																																	uc002iuz.1				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(802-804)gCg>gTg		Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.							48	63	58					17																	55752345		2199	4284	6483	SO:0001583	missense	124540					cytoplasm	RNA binding|nucleotide binding	g.chr17:55752345C>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.803C>T	17.37:g.55752345C>T	ENSP00000284073:p.Ala268Val		Somatic				MSI2_uc010wnm.1_Missense_Mutation_p.A264V	p.A268V	NM_138962	NP_620412	WXS	Illumina GAIIx	Phase_I	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	11	976	+	Breast(9;1.78e-08)		268					Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.803C>T	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860037	0.51482	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000442934	D;T;T	0.83914	-1.78;1.97;2.86	4.48	4.48	0.54585	.	0.118233	0.64402	D	0.000019	T	0.69975	0.3171	L	0.27053	0.805	0.80722	D	1	P;P	0.37612	0.553;0.602	B;B	0.27796	0.025;0.083	T	0.69756	-0.5059	10	0.17369	T	0.5	.	17.1487	0.86773	0.0:1.0:0.0:0.0	.	264;268	B4DHE8;Q96DH6	.;MSI2H_HUMAN	V	264;268;207	ENSP00000414671:A264V;ENSP00000284073:A268V;ENSP00000392607:A207V	ENSP00000284073:A268V	A	+	2	0	MSI2	53107344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.038000	0.60285	0.491000	0.48974	GCG		0.642	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			5	253	0	0	0	1	0	5	253					T	55752345	C	T	55752345	3	4	353	1	0	0	0	0	1	0	0	0	9876	768	27	1	944	1	MSI2	17	55752345	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		55752345	25442865	18	6026											
LAMA3	3909	broad.mit.edu	37	18	21484047	21484047	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr18:21484047G>A	ENST00000313654.9	+	50	6710	c.6469G>A	c.(6469-6471)Gaa>Aaa	p.E2157K	LAMA3_ENST00000269217.6_Missense_Mutation_p.E548K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E492K|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2101K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2157	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)					AAAGCAGCTGGAAGAGTGAGT	0.567																																						uc002kuq.3																			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.(6469-6471)Gaa>Aaa		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						64	65	64					18																	21484047		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.chr18:21484047G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6469G>A	18.37:g.21484047G>A	ENSP00000324532:p.Glu2157Lys		Somatic				LAMA3_uc002kur.3_Missense_Mutation_p.E2101K|LAMA3_uc002kus.4_Missense_Mutation_p.E548K|LAMA3_uc002kut.4_Missense_Mutation_p.E492K	p.E2157K	NM_198129	NP_937762	WXS	Illumina GAIIx	Phase_I	Q16787	LAMA3_HUMAN			49	6555	+	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)		2157			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6469G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829552	0.90955	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77489	2.21;-1.1;1.92	6.11	6.11	0.99139	.	.	.	.	.	D	0.86598	0.5971	M	0.70595	2.14	0.58432	D	0.999991	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;P	0.77004	0.985;0.989;0.948;0.873	D	0.86160	0.1593	9	0.52906	T	0.07	.	13.8713	0.63622	0.0692:0.0:0.9308:0.0	.	492;548;2101;2157	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	2157;2101;548	ENSP00000324532:E2157K;ENSP00000382432:E2101K;ENSP00000269217:E548K	ENSP00000269217:E548K	E	+	1	0	LAMA3	19738045	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.104000	0.64584	2.906000	0.99361	0.655000	0.94253	GAA		0.567	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		52	76	0	0	0	1	0	52	76					A	21484047	G	A	21484047	3	1	353	1	0	0	0	0	1	0	0	0	8607	1175	41	2	6842	2	LAMA3	18	21484047	Missense_Mutation	SNP	G	TCGA-FE-A3PD-01A-11D-A21Z-08		21484047	56593201	19	6027											
ZNF223	7766	broad.mit.edu	37	19	44570331	44570331	+	Missense_Mutation	SNP	C	C	G			TCGA-FE-A3PD-01A-11D-A21Z-08	TCGA-FE-A3PD-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bdca282-c671-48ff-b32b-2380996016c0	9ee50075-10f8-4945-8391-66c5e87d3333	g.chr19:44570331C>G	ENST00000434772.3	+	5	605	c.350C>G	c.(349-351)tCt>tGt	p.S117C	ZNF223_ENST00000591793.1_Missense_Mutation_p.S227C	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CCTCAAGACTCTACCATAAAG	0.473																																						uc002oyf.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(349-351)tCt>tGt		Homo sapiens zinc finger protein 223 (ZNF223), mRNA.							79	70	73					19																	44570331		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570331C>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.350C>G	19.37:g.44570331C>G	ENSP00000401947:p.Ser117Cys		Somatic				ZNF284_uc010ejd.2_Non-coding_Transcript	p.S117C	NM_013361	NP_037493	WXS	Illumina GAIIx	Phase_I	Q9UK11	ZN223_HUMAN			4	603	+		Prostate(69;0.0352)	117					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.350C>G	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910205	0.33721	.	.	ENSG00000178386	ENST00000434772	T	0.05319	3.46	2.7	0.395	0.16304	.	.	.	.	.	T	0.12305	0.0299	L	0.50333	1.59	0.09310	N	1	D	0.67145	0.996	P	0.58391	0.838	T	0.16897	-1.0387	9	0.66056	D	0.02	.	5.482	0.16729	0.0:0.6537:0.2104:0.1358	.	117	Q9UK11	ZN223_HUMAN	C	117	ENSP00000401947:S117C	ENSP00000401947:S117C	S	+	2	0	ZNF223	49262171	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-0.402000	0.07223	0.411000	0.25702	0.313000	0.20887	TCT		0.473	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			41	50	0	0	0	1	0	41	50					G	44570331	C	G	44570331	3	3	353	1	0	0	0	0	1	0	0	0	17774	913	32	4	364	4	ZNF223	19	44570331	Missense_Mutation	SNP	C	TCGA-FE-A3PD-01A-11D-A21Z-08		44570331	14558652	20	6028											
CSMD2	114784	broad.mit.edu	37	1	34164511	34164511	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:34164511G>A	ENST00000373380.1	-	3	606	c.386C>T	c.(385-387)aCc>aTc	p.T129I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.T1256I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1216	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)				AAACTTGGGGGTTCCTGGGTC	0.517																																						uc001bxm.1																			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.(3766-3768)aCc>aTc		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							64	61	62					1																	34164511		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164511G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.386C>T	1.37:g.34164511G>A	ENSP00000362478:p.Thr129Ile		Somatic				CSMD2_uc001bxn.1_Missense_Mutation_p.T1216I|CSMD2_uc001bxo.1_Missense_Mutation_p.T129I	p.T1256I	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			23	3944	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1216			Sushi 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3767C>T		.	.	.	.	.	.	.	.	.	.	G	1.537	-0.542838	0.04053	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65178	-0.14;-0.14	5.76	2.42	0.29668	Complement control module (2);Sushi/SCR/CCP (3);	0.260649	0.38111	N	0.001819	T	0.28200	0.0696	N	0.03084	-0.415	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.004	T	0.24190	-1.0167	10	0.02654	T	1	.	5.6913	0.17831	0.4503:0.0:0.5496:0.0	.	129;1216;1256	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	I	1256;129	ENSP00000362479:T1256I;ENSP00000362478:T129I	ENSP00000241312:T1216I	T	-	2	0	CSMD2	33937098	1.000000	0.71417	0.990000	0.47175	0.572000	0.35998	6.441000	0.73439	0.909000	0.36697	-0.133000	0.14855	ACC		0.517	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		3	74	0	0	0	1	0	3	74					A	34164511	G	A	34164511	3	1	354	1	0	0	0	0	1	0	0	0	3945	1261	44	2	7000	2	CSMD2	1	34164511	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		34164511	215086110	1	6029											
ALK	238	broad.mit.edu	37	2	29474098	29474098	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr2:29474098G>A	ENST00000389048.3	-	12	2983	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	693					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGCCATGGGGCCCGCTGGCC	0.642			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2077-2079)Ccc>Tcc		Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	Adenosine triphosphate(DB00171)						38	40	40					2																	29474098		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474098G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2077C>T	2.37:g.29474098G>A	ENSP00000373700:p.Pro693Ser		Somatic					p.P693S	NM_004304	NP_004295	WXS	Illumina GAIIx	Phase_I	Q9UM73	ALK_HUMAN			11	3029	-	Acute lymphoblastic leukemia(172;0.155)		693					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2077C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577008	0.65878	.	.	ENSG00000171094	ENST00000389048	T	0.77358	-1.09	5.19	5.19	0.71726	.	0.145747	0.31673	N	0.007250	D	0.82591	0.5070	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.52598	0.703	T	0.82271	-0.0540	9	.	.	.	.	18.723	0.91703	0.0:0.0:1.0:0.0	.	693	Q9UM73	ALK_HUMAN	S	693	ENSP00000373700:P693S	.	P	-	1	0	ALK	29327602	1.000000	0.71417	0.963000	0.40424	0.229000	0.25112	6.362000	0.73077	2.583000	0.87209	0.561000	0.74099	CCC		0.642	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	28	0	0	0	1	0	3	28					A	29474098	G	A	29474098	3	1	354	1	0	0	0	0	1	0	0	0	525	1203	42	2	2857	2	ALK	2	29474098	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		29474098	213725275	2	6030											
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5932-5934)Gac>Cac		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42	47	45					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His		Somatic				SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	p.D1978H	NM_198056	NP_932173	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	5984	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	68	0	0	0	1	0	3	68					G	38591931	C	G	38591931	3	3	354	1	0	0	0	0	1	0	0	0	13922	826	29	4	122	4	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		38591931	159430499	3	6031											
NCK1	4690	broad.mit.edu	37	3	136646925	136646925	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:136646925A>G	ENST00000481752.1	+	2	246	c.82A>G	c.(82-84)Aga>Gga	p.R28G	NCK1_ENST00000288986.2_Missense_Mutation_p.R28G|NCK1_ENST00000469404.1_5'Flank			P16333	NCK1_HUMAN	NCK adaptor protein 1	28	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAAGAATGAGAGATTATGGCT	0.418																																						uc003erh.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(82-84)Aga>Gga		Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.							129	119	122					3																	136646925		2203	4300	6503	SO:0001583	missense	4690				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136646925A>G	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.82A>G	3.37:g.136646925A>G	ENSP00000417273:p.Arg28Gly		Somatic				NCK1_uc011bme.2_5'Flank	p.R28G	NM_006153	NP_006144	WXS	Illumina GAIIx	Phase_I	P16333	NCK1_HUMAN			1	212	+			28			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.82A>G	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919631	0.73098	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.98	4.8	0.61643	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.93594	3.435	0.80722	D	1	D	0.56746	0.977	D	0.67231	0.95	T	0.76756	-0.2842	10	0.51188	T	0.08	-8.0274	10.3723	0.44062	0.6833:0.3167:0.0:0.0	.	28	P16333	NCK1_HUMAN	G	28	ENSP00000288986:R28G;ENSP00000417273:R28G;ENSP00000419302:R28G;ENSP00000419677:R28G;ENSP00000418513:R28G;ENSP00000417729:R28G	ENSP00000288986:R28G	R	+	1	2	NCK1	138129615	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.122000	0.57910	1.036000	0.39998	0.533000	0.62120	AGA		0.418	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		36	52	0	0	0	1	0	36	52					G	136646925	A	G	136646925	3	3	354	1	0	0	0	0	1	0	0	0	10219	296	11	3	84	3	NCK1	3	136646925	Missense_Mutation	SNP	A	TCGA-FK-A3S3-01A-11D-A22D-08	98054994	136646925	61375505	4	6032											
CCDC96	257236	broad.mit.edu	37	4	7043726	7043726	+	Missense_Mutation	SNP	G	G	A	rs200146451		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr4:7043726G>A	ENST00000310085.4	-	1	1002	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	314										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGCACTGCCGCTTCAACTGG	0.617																																						uc003gjv.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(940-942)Cgg>Tgg		Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.							77	80	79					4																	7043726		2202	4300	6502	SO:0001583	missense	257236							g.chr4:7043726G>A	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.940C>T	4.37:g.7043726G>A	ENSP00000309285:p.Arg314Trp		Somatic				LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	p.R314W	NM_153376	NP_699207	WXS	Illumina GAIIx	Phase_I	Q2M329	CCD96_HUMAN			0	1003	-			314					Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.940C>T	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	6.624	0.483613	0.12581	.	.	ENSG00000173013	ENST00000310085	T	0.45276	0.9	3.89	0.865	0.19074	.	0.733045	0.12027	N	0.506360	T	0.21590	0.0520	N	0.08118	0	0.41440	D	0.987917	D	0.54207	0.965	B	0.41299	0.353	T	0.04229	-1.0967	10	0.72032	D	0.01	-14.7618	7.5905	0.28019	0.0:0.3534:0.2231:0.4236	.	314	Q2M329	CCD96_HUMAN	W	314	ENSP00000309285:R314W	ENSP00000309285:R314W	R	-	1	2	CCDC96	7094627	0.012000	0.17670	0.772000	0.31596	0.023000	0.10783	-0.006000	0.12833	-0.058000	0.13177	-0.521000	0.04368	CGG		0.617	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		4	229	0	0	0	1	0	4	229					A	7043726	G	A	7043726	3	1	354	1	0	0	0	0	1	0	0	0	2874	1086	38	1	731	1	CCDC96	4	7043726	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		7043726	184110550	5	6033											
SPEF2	79925	broad.mit.edu	37	5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:35700753C>T	ENST00000356031.3	+	16	2451	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V|SPEF2_ENST00000440995.2_Missense_Mutation_p.A761V	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	766					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383																																						uc003jjo.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2296-2298)gCg>gTg		Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.							148	130	136					5																	35700753		1840	4088	5928	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700753C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2297C>T	5.37:g.35700753C>T	ENSP00000348314:p.Ala766Val		Somatic				SPEF2_uc003jjq.4_Missense_Mutation_p.A761V|SPEF2_uc003jjp.1_Missense_Mutation_p.A252V	p.A766V	NM_024867	NP_079143	WXS	Illumina GAIIx	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		15	2408	+	all_lung(31;7.56e-05)		766					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2297C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	5.236	0.229059	0.09916	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.31510	3.38;3.23;3.37;1.49	5.67	2.93	0.34026	.	0.575006	0.18100	N	0.151701	T	0.15825	0.0381	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.18967	-1.0320	10	0.37606	T	0.19	.	7.2126	0.25941	0.0:0.5939:0.2605:0.1456	.	761;761;766	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	766;761;761;272	ENSP00000348314:A766V;ENSP00000421593:A761V;ENSP00000412125:A761V;ENSP00000421744:A272V	ENSP00000348314:A766V	A	+	2	0	SPEF2	35736510	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.085000	0.11250	0.326000	0.23384	-0.244000	0.11960	GCG		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	68	0	0	0	1	0	3	68					T	35700753	C	T	35700753	3	4	354	1	0	0	0	0	1	0	0	0	15034	768	27	1	2380	1	SPEF2	5	35700753	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		35700753	145214507	6	6034											
IL13	3596	broad.mit.edu	37	5	131995905	131995905	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:131995905G>A	ENST00000304506.3	+	4	386	c.372G>A	c.(370-372)gaG>gaA	p.E124E	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_3'UTR	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	124					cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAAATCGAGGTGGCCCAGT	0.478																																						uc003kxj.1																			0				large_intestine(1)|lung(1)|ovary(1)|skin(3)	6						c.(370-372)gaG>gaA		Homo sapiens interleukin 13 (IL13), mRNA.							94	88	90					5																	131995905		2203	4300	6503	SO:0001819	synonymous_variant	3596				cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	g.chr5:131995905G>A	U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"Interleukins and interleukin receptors"	5973	protein-coding gene	gene with protein product	"allergic rhinitis", "Bronchial hyperresponsiveness-1 (bronchial asthma)"	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.372G>A	5.37:g.131995905G>A			Somatic					p.E124E	NM_002188	NP_002179	WXS	Illumina GAIIx	Phase_I	P35225	IL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	386	+		all_cancers(142;0.0751)|Breast(839;0.198)	124					O43644|Q4VB52|Q9UDC7	Silent	SNP	ENST00000304506.3	37	c.372G>A	CCDS4157.1																																																																																				0.478	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		3	56	0	0	0	1	0	3	56					A	131995905	G	A	131995905	2	1	354	1	0	0	0	0	0	0	0	1	7628	991	35	2		2	IL13	5	131995905	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	96295152	131995905	48919355	7	6035											
TMC1	117531	broad.mit.edu	37	9	75445596	75445596	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr9:75445596C>T	ENST00000297784.5	+	23	2798	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	TMC1_ENST00000396237.3_Missense_Mutation_p.A753V|TMC1_ENST00000340019.3_Missense_Mutation_p.A753V|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	753	Poly-Ala.				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTGCACGAGCAGGTTGGAGA	0.323																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2257-2259)gCa>gTa		Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.							79	87	85					9																	75445596		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445596C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2258C>T	9.37:g.75445596C>T	ENSP00000297784:p.Ala753Val		Somatic				TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.A607V|TMC1_uc010mpa.1_Intron	p.A753V	NM_138691	NP_619636	WXS	Illumina GAIIx	Phase_I	Q8TDI8	TMC1_HUMAN			22	2798	+			753			Poly-Ala.		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2258C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673001	0.67928	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.67523	-0.27;-0.27;-0.27	5.07	5.07	0.68467	.	0.174294	0.39985	N	0.001204	T	0.48314	0.1493	N	0.12182	0.205	0.40811	D	0.983425	P	0.47762	0.9	B	0.37387	0.248	T	0.55231	-0.8173	10	0.37606	T	0.19	-20.9557	17.9798	0.89137	0.0:1.0:0.0:0.0	.	753	Q8TDI8	TMC1_HUMAN	V	753;753;720;747;753	ENSP00000297784:A753V;ENSP00000341433:A753V;ENSP00000379538:A753V	ENSP00000297784:A753V	A	+	2	0	TMC1	74635416	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.382000	0.59594	2.790000	0.95986	0.650000	0.86243	GCA		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			8	20	0	0	0	1	0	8	20					T	75445596	C	T	75445596	3	4	354	1	0	0	0	0	1	0	0	0	15981	710	25	2	2332	2	TMC1	9	75445596	Missense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		75445596	65767835	8	6036											
ANKRD26	22852	broad.mit.edu	37	10	27332479	27332479	+	Silent	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr10:27332479C>T	ENST00000376087.4	-	20	2202	c.2037G>A	c.(2035-2037)caG>caA	p.Q679Q	ANKRD26_ENST00000376070.3_Silent_p.Q236Q|ANKRD26_ENST00000436985.2_Silent_p.Q695Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	678					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATCCATAGACTGTATTTGGT	0.348																																						uc009xku.1																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2035-2037)caG>caA		Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.							77	71	73					10																	27332479		1843	4082	5925	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27332479C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2037G>A	10.37:g.27332479C>T			Somatic				ANKRD26_uc001itg.2_Silent_p.Q365Q|ANKRD26_uc001ith.2_Silent_p.Q678Q	p.Q679Q	NM_014915	NP_055730	WXS	Illumina GAIIx	Phase_I	Q9UPS8	ANR26_HUMAN			19	2209	-			678					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.2037G>A	CCDS41499.1																																																																																				0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			13	22	0	0	0	1	0	13	22					T	27332479	C	T	27332479	2	4	354	1	0	0	0	0	0	0	0	1	654	564	20	2		2	ANKRD26	10	27332479	Silent	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08		27332479	108202268	9	6037											
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						uc010qvs.2																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly		Somatic				NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	p.E611G	NM_138329	NP_612202	WXS	Illumina GAIIx	Phase_I	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1832	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	198	0	0	0	1	0	5	198					G	281566	A	G	281566	3	3	354	1	0	0	0	0	1	0	0	0	10481	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FK-A3S3-01A-11D-A22D-08		281566	134724950	10	6038											
SSH3	54961	broad.mit.edu	37	11	67076991	67076991	+	Silent	SNP	G	G	A	rs149398055		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:67076991G>A	ENST00000308127.4	+	11	1363	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Silent_p.T395T	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	395	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAAGGAGACGCACCGCTTCA	0.637													G|||	1	0.000199681	0	0	5008	,	,		21759	0		0.001	False		,,,				2504	0					uc001okj.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1183-1185)acG>acA		Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.		G		0,4400		0,0,2200	69	60	63		1185	-8.4	0.4	11	dbSNP_134	63	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SSH3	NM_017857.3		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		395/660	67076991	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67076991G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1185G>A	11.37:g.67076991G>A			Somatic				SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.T249T	p.T395T	NM_017857	NP_060327	WXS	Illumina GAIIx	Phase_I	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1363	+			395			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1185G>A	CCDS8157.1																																																																																				0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		3	55	0	0	0	1	0	3	55					A	67076991	G	A	67076991	2	1	354	1	0	0	0	0	0	0	0	1	15185	1074	38	1		1	SSH3	11	67076991	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	66795425	67076991	67929525	11	6039											
SFRS2IP	9169	broad.mit.edu	37	12	46322574	46322574	+	Missense_Mutation	SNP	T	T	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr12:46322574T>A	ENST00000369367.3	-	11	1143	c.910A>T	c.(910-912)Aca>Tca	p.T304S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T112S|SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000419565.2_Missense_Mutation_p.T304S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	304					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTATTTGATGTACCAGAAGTT	0.378																																						uc001rox.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(910-912)Aca>Tca		Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.							136	135	135					12																	46322574		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322574T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.910A>T	12.37:g.46322574T>A	ENSP00000358374:p.Thr304Ser		Somatic				SCAF11_uc001row.3_5'UTR|SCAF11_uc001roy.1_Missense_Mutation_p.T378S	p.T304S	NM_004719	NP_004710	WXS	Illumina GAIIx	Phase_I	Q99590	SCAFB_HUMAN			10	1197	-			304					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.910A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241894	0.58995	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.40756	1.02;1.28;1.02;1.02	6.07	0.578	0.17391	.	0.159035	0.29046	U	0.013318	T	0.25644	0.0624	L	0.32530	0.975	0.19775	N	0.99996	B;B	0.26081	0.141;0.028	B;B	0.30495	0.116;0.008	T	0.16867	-1.0388	10	0.19590	T	0.45	-2.1632	4.2341	0.10616	0.2434:0.2833:0.0:0.4734	.	112;304	F8VXG7;Q99590	.;SCAFB_HUMAN	S	304;112;304;244	ENSP00000358374:T304S;ENSP00000448864:T112S;ENSP00000413036:T304S;ENSP00000446746:T244S	ENSP00000358374:T304S	T	-	1	0	SCAF11	44608841	0.972000	0.33761	0.184000	0.23157	0.995000	0.86356	0.692000	0.25482	-0.114000	0.11936	0.477000	0.44152	ACA		0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	135	0	0	0	1	0	8	135					A	46322574	T	A	46322574	3	1	354	1	0	0	0	0	1	0	0	0	14177	1638	57	5	3501	5	SFRS2IP	12	46322574	Missense_Mutation	SNP	T	TCGA-FK-A3S3-01A-11D-A22D-08		46322574	87529321	12	6040											
TRPM1	4308	broad.mit.edu	37	15	31327829	31327829	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:31327829G>A	ENST00000256552.6	-	21	2767	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	TRPM1_ENST00000542188.1_Missense_Mutation_p.R891W|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R852W	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATCCATCCGCACCAGGATG	0.517																																						uc021sia.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2671-2673)Cgg>Tgg		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.							106	108	107					15																	31327829		2020	4190	6210	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31327829G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2620C>T	15.37:g.31327829G>A	ENSP00000256552:p.Arg874Trp		Somatic				TRPM1_uc010azy.3_Missense_Mutation_p.R759W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R874W|TRPM1_uc001zfm.3_Missense_Mutation_p.R852W	p.R891W	NM_001252020	NP_001238949	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	19	2985	-		all_lung(180;1.92e-11)	852						Missense_Mutation	SNP	ENST00000256552.6	37	c.2671C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958305	0.73902	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.63417	-0.04;-0.04;-0.04	5.57	2.3	0.28687	.	0.059435	0.64402	D	0.000004	T	0.69205	0.3085	L	0.49126	1.545	0.39695	D	0.971101	D;D	0.76494	0.999;0.997	D;P	0.63957	0.92;0.834	T	0.71896	-0.4454	10	0.87932	D	0	-24.182	10.9168	0.47142	0.0:0.1002:0.5454:0.3544	.	846;852	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	852;891;874;852	ENSP00000380897:R852W;ENSP00000437849:R891W;ENSP00000256552:R874W	ENSP00000256552:R874W	R	-	1	2	TRPM1	29115121	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	3.415000	0.52700	0.678000	0.31325	0.655000	0.94253	CGG		0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		4	116	0	0	0	1	0	4	116					A	31327829	G	A	31327829	3	1	354	1	0	0	0	0	1	0	0	0	16582	1086	38	1	2289	1	TRPM1	15	31327829	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		31327829	71203563	13	6041											
MYO5C	55930	broad.mit.edu	37	15	52521333	52521333	+	Silent	SNP	G	G	C			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:52521333G>C	ENST00000261839.7	-	25	3365	c.3204C>G	c.(3202-3204)gtC>gtG	p.V1068V		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1068						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTACCTTGACCTGCTTGC	0.532																																						uc010bff.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3202-3204)gtC>gtG		Homo sapiens myosin VC (MYO5C), mRNA.							131	133	132					15																	52521333		1957	4129	6086	SO:0001819	synonymous_variant	55930					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	g.chr15:52521333G>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3204C>G	15.37:g.52521333G>C			Somatic				MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	p.V1068V	NM_018728	NP_061198	WXS	Illumina GAIIx	Phase_I	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	24	3366	-			1068					Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.3204C>G	CCDS42036.1																																																																																				0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		80	162	0	0	0	1	0	80	162					C	52521333	G	C	52521333	2	2	354	1	0	0	0	0	0	0	0	1	10080	1277	45	4		4	MYO5C	15	52521333	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	21193504	52521333	50010059	14	6042											
NOX5	79400	broad.mit.edu	37	15	69327795	69327795	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:69327795C>G	ENST00000388866.3	+	6	998	c.957C>G	c.(955-957)taC>taG	p.Y319*	NOX5_ENST00000455873.3_Nonsense_Mutation_p.Y284*|NOX5_ENST00000260364.5_Nonsense_Mutation_p.Y301*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Y291*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Y273*	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	319	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTATGGGCTACGTGGTAGTGG	0.607																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(955-957)taC>taG		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							102	68	79					15																	69327795		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	g.chr15:69327795C>G	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.957C>G	15.37:g.69327795C>G	ENSP00000373518:p.Tyr319*		Somatic				MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Y273*|NOX5_uc002arp.2_Nonsense_Mutation_p.Y301*|NOX5_uc010bid.2_Nonsense_Mutation_p.Y284*|NOX5_uc010bie.2_Nonsense_Mutation_p.Y119*|NOX5_uc002arr.2_Nonsense_Mutation_p.Y291*|NOX5_uc010bif.2_Non-coding_Transcript	p.Y319*	NM_024505	NP_078781	WXS	Illumina GAIIx	Phase_I	Q96PH1	NOX5_HUMAN			5	998	+			319			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.957C>G	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945914	0.53079	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	.	.	.	3.44	-3.36	0.04913	.	0.322034	0.29767	N	0.011257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.502	6.4084	0.21678	0.0:0.3975:0.1299:0.4726	.	.	.	.	X	284;301;319;291	.	ENSP00000373518:Y319X	Y	+	3	2	NOX5	67114849	0.971000	0.33674	0.763000	0.31416	0.509000	0.34042	0.022000	0.13511	-0.701000	0.05063	-0.672000	0.03802	TAC		0.607	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		3	90	0	0	0	1	0	3	90					G	69327795	C	G	69327795	4	3	354	1	0	0	0	0	0	1	0	0	10559	547	19	4	1012	4	NOX5	15	69327795	Nonsense_Mutation	SNP	C	TCGA-FK-A3S3-01A-11D-A22D-08	16806462	69327795	33203597	15	6043											
DPH1	1801	broad.mit.edu	37	17	1944859	1944859	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:1944859G>A	ENST00000263083.6	+	11	1231	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000570477.1_Missense_Mutation_p.V316M|RP11-667K14.4_ENST00000572404.1_RNA|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	396					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCCTGGACGGTGAACCACGG	0.731																																						uc010vqs.2																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1216-1218)Gtg>Atg		Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.							25	27	26					17																	1944859		1903	4102	6005	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1944859G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.1186G>A	17.37:g.1944859G>A	ENSP00000263083:p.Val396Met		Somatic				DPH1_uc002fts.3_Missense_Mutation_p.V396M|DPH1_uc002ftt.3_Missense_Mutation_p.V380M|DPH1_uc010cjx.3_Missense_Mutation_p.V256M|DPH1_uc002ftv.3_Missense_Mutation_p.V152M|DPH1_uc002ftw.3_Missense_Mutation_p.V124M|OVCA2_uc002ftx.3_5'Flank	p.V406M	NM_001383	NP_001374	WXS	Illumina GAIIx	Phase_I	Q9BZG8	DPH1_HUMAN			9	1222	+			396					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.1216G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555206	0.65425	.	.	ENSG00000108963	ENST00000263083	T	0.32272	1.46	5.68	5.68	0.88126	.	0.294054	0.33040	N	0.005348	T	0.33089	0.0851	L	0.55481	1.735	0.30411	N	0.779062	B;B;B	0.33135	0.399;0.215;0.215	B;B;B	0.32465	0.101;0.146;0.101	T	0.35574	-0.9783	10	0.51188	T	0.08	-18.4066	16.9416	0.86219	0.0:0.0:1.0:0.0	.	406;406;396	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	M	396	ENSP00000263083:V396M	ENSP00000263083:V396M	V	+	1	0	DPH1	1891609	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	3.973000	0.56845	2.684000	0.91462	0.555000	0.69702	GTG		0.731	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		3	57	0	0	0	1	0	3	57					A	1944859	G	A	1944859	3	1	354	1	0	0	0	0	1	0	0	0	4719	1261	44	2	1228	2	DPH1	17	1944859	Missense_Mutation	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		1944859	79250351	16	6044											
SUPT6H	6830	broad.mit.edu	37	17	27024043	27024043	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:27024043G>A	ENST00000314616.6	+	30	4435	c.4152G>A	c.(4150-4152)cgG>cgA	p.R1384R	SUPT6H_ENST00000347486.4_Silent_p.R1384R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1384	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGATGTGCGGGAGGAGGGCA	0.572																																						uc010crt.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4150-4152)cgG>cgA		Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.							112	89	97					17																	27024043		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	g.chr17:27024043G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4152G>A	17.37:g.27024043G>A			Somatic				SUPT6H_uc002hby.3_Silent_p.R1384R	p.R1384R	NM_003170	NP_003161	WXS	Illumina GAIIx	Phase_I	Q7KZ85	SPT6H_HUMAN			30	4344	+	Lung NSC(42;0.00431)		1384			SH2.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.4152G>A	CCDS32596.1																																																																																				0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	118	0	0	0	1	0	3	118					A	27024043	G	A	27024043	2	1	354	1	0	0	0	0	0	0	0	1	15397	1219	43	2		2	SUPT6H	17	27024043	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08	25079184	27024043	54171167	17	6045											
LONP1	9361	broad.mit.edu	37	19	5699184	5699184	+	Silent	SNP	G	G	A	rs202108466		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr19:5699184G>A	ENST00000360614.3	-	10	1696	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	LONP1_ENST00000540670.2_Silent_p.S317S|LONP1_ENST00000585374.1_Silent_p.S399S|LONP1_ENST00000590729.1_Silent_p.S383S|LONP1_ENST00000593119.1_Silent_p.S449S	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCTGGGTGGAGCCGCGGA	0.647																																						uc002mcx.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1537-1539)tcC>tcT		Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.							47	48	48					19																	5699184		2203	4300	6503	SO:0001819	synonymous_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5699184G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1539C>T	19.37:g.5699184G>A			Somatic				LONP1_uc002mcy.3_Silent_p.S449S|LONP1_uc010duh.3_Silent_p.S254S|LONP1_uc010dui.3_Silent_p.S497S|LONP1_uc002mcz.3_Silent_p.S317S	p.S513S	NM_004793	NP_004784	WXS	Illumina GAIIx	Phase_I	P36776	LONM_HUMAN			9	1572	-			513						Silent	SNP	ENST00000360614.3	37	c.1539C>T	CCDS12148.1																																																																																				0.647	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		3	115	0	0	0	1	0	3	115					A	5699184	G	A	5699184	2	1	354	1	0	0	0	0	0	0	0	1	8892	1335	47	2		2	LONP1	19	5699184	Silent	SNP	G	TCGA-FK-A3S3-01A-11D-A22D-08		5699184	53429799	18	6046											
ESPN	83715	broad.mit.edu	37	1	6511719	6511719	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr1:6511719G>C	ENST00000377828.1	+	9	2140	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	ESPN_ENST00000461727.1_Missense_Mutation_p.E92Q|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Missense_Mutation_p.E92Q	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	658	Pro-rich.|WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCTACTGGCTGAGATTAAGGC	0.637																																						uc001amy.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1972-1974)Gag>Cag		Homo sapiens espin (ESPN), mRNA.							28	31	30					1																	6511719		2203	4300	6503	SO:0001583	missense	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding	g.chr1:6511719G>C	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1972G>C	1.37:g.6511719G>C	ENSP00000367059:p.Glu658Gln		Somatic				ESPN_uc001amz.3_Missense_Mutation_p.E92Q	p.E658Q	NM_031475	NP_113663	WXS	Illumina GAIIx	Phase_I	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	8	2140	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	658			Pro-rich.|WH2.		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	ENST00000377828.1	37	c.1972G>C	CCDS70.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827966|4.827966	0.90955|0.90955	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	T;T|.	0.39056|.	1.1;1.1|.	5.48|5.48	4.54|4.54	0.55810|0.55810	Actin-binding WH2 (2);|.	0.192536|.	0.43110|.	D|.	0.000606|.	T|.	0.71392|.	0.3334|.	M|M	0.68317|0.68317	2.08|2.08	0.48395|0.48395	D|D	0.999648|0.999648	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.83275|.	0.996;0.978|.	T|.	0.71069|.	-0.4699|.	10|.	0.38643|.	T|.	0.18|.	-14.6499|-14.6499	14.4137|14.4137	0.67135|0.67135	0.0:0.0:0.8513:0.1487|0.0:0.0:0.8513:0.1487	.|.	92;658|.	B1AK53-2;B1AK53|.	.;ESPN_HUMAN|.	Q|S	658;92|1	ENSP00000367059:E658Q;ENSP00000399239:E92Q|.	ENSP00000367059:E658Q|.	E|X	+|+	1|2	0|2	ESPN|ESPN	6434306|6434306	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	9.336000|9.336000	0.96533|0.96533	1.255000|1.255000	0.44051|0.44051	0.491000|0.491000	0.48974|0.48974	GAG|TGA		0.637	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		5	22	0	0	0	1	0	5	22					C	6511719	G	C	6511719	3	2	355	1	0	0	0	0	1	0	0	0	5254	1291	45	4	2006	4	ESPN	1	6511719	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08		6511719	242738902	1	6047											
VGLL3	389136	broad.mit.edu	37	3	87017837	87017837	+	Silent	SNP	T	T	C			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr3:87017837T>C	ENST00000398399.2	-	3	1203	c.840A>G	c.(838-840)acA>acG	p.T280T	VGLL3_ENST00000383698.3_Silent_p.T280T	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTTCTGTCTTTGTGATGTCAC	0.557																																						uc003dqn.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(838-840)acA>acG		Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.							83	84	84					3																	87017837		2108	4238	6346	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017837T>C	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"vestigial like 3 (Drosophila)"			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.840A>G	3.37:g.87017837T>C			Somatic					p.T280T	NM_016206	NP_057290	WXS	Illumina GAIIx	Phase_I	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	1204	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	280						Silent	SNP	ENST00000398399.2	37	c.840A>G	CCDS43110.1																																																																																				0.557	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	29	0	0	0	1	0	9	29					C	87017837	T	C	87017837	2	2	355	1	0	0	0	0	0	0	0	1	17157	1799	63	3		3	VGLL3	3	87017837	Silent	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		87017837	111004593	2	6048											
IGSF10	285313	broad.mit.edu	37	3	151171242	151171242	+	Silent	SNP	G	G	A			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr3:151171242G>A	ENST00000282466.3	-	3	644	c.645C>T	c.(643-645)taC>taT	p.Y215Y		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	215					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)			TTCCATGCAGGTAAAGGCTGT	0.413																																						uc011bod.2																			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.(643-645)taC>taT		Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.							108	109	108					3																	151171242		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151171242G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.645C>T	3.37:g.151171242G>A			Somatic					p.Y215Y	NM_178822	NP_849144	WXS	Illumina GAIIx	Phase_I	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		2	645	-			215					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.645C>T	CCDS3160.1																																																																																				0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		3	107	0	0	0	1	0	3	107					A	151171242	G	A	151171242	2	1	355	1	0	0	0	0	0	0	0	1	7597	1256	44	2		2	IGSF10	3	151171242	Silent	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	64153405	151171242	46851188	3	6049											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	63	0	0	0	1	0	29	63					T	140453136	A	T	140453136	3	4	355	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		140453136	18685527	4	6050											
TRIM8	81603	broad.mit.edu	37	10	104416787	104416787	+	Silent	SNP	G	G	A			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr10:104416787G>A	ENST00000302424.7	+	6	1454	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	444					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|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)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCCCCCATCGCAGTATCCCA	0.657																																						uc001kvz.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1330-1332)tcG>tcA		Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.							32	37	36					10																	104416787		2202	4299	6501	SO:0001819	synonymous_variant	81603					PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416787G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1332G>A	10.37:g.104416787G>A			Somatic					p.S444S	NM_030912	NP_112174	WXS	Illumina GAIIx	Phase_I	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	1455	+		Colorectal(252;0.122)	444					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.1332G>A	CCDS31274.1																																																																																				0.657	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		3	70	0	0	0	1	0	3	70					A	104416787	G	A	104416787	2	1	355	1	0	0	0	0	0	0	0	1	16545	1074	38	1		1	TRIM8	10	104416787	Silent	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08		104416787	31117960	5	6051											
ARFGAP2	84364	broad.mit.edu	37	11	47189578	47189578	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr11:47189578A>G	ENST00000524782.1	-	12	1315	c.1087T>C	c.(1087-1089)Ttt>Ctt	p.F363L	ARFGAP2_ENST00000395449.3_5'UTR|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.F227L|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.F256L|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.F94L	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	363	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTAAGGAAAAGGGATTGTCC	0.512																																						uc001ndt.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1087-1089)Ttt>Ctt		Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.							100	96	97					11																	47189578		2201	4299	6500	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47189578A>G	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1087T>C	11.37:g.47189578A>G	ENSP00000434442:p.Phe363Leu		Somatic				ARFGAP2_uc010rha.2_Missense_Mutation_p.F94L|ARFGAP2_uc010rhb.2_Missense_Mutation_p.F335L|ARFGAP2_uc001ndu.3_Missense_Mutation_p.F227L|ARFGAP2_uc010rhc.2_Missense_Mutation_p.F94L	p.F363L	NM_032389	NP_115765	WXS	Illumina GAIIx	Phase_I	Q8N6H7	ARFG2_HUMAN			11	1359	-			363			Required for interaction with coatomer.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.1087T>C	CCDS7926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.44|16.44	3.124999|3.124999	0.56721|0.56721	.|.	.|.	ENSG00000149182|ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342;ENST00000527927|ENST00000527776	T;T;T;T;T;T|.	0.17054|.	3.35;3.51;3.08;3.19;2.3;2.68|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73822|0.73822	0.3636|0.3636	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;P|.	0.51057|.	0.941;0.928;0.835|.	P;P;P|.	0.53760|.	0.734;0.452;0.546|.	T|T	0.72297|0.72297	-0.4335|-0.4335	10|5	0.13470|.	T|.	0.59|.	-12.0451|-12.0451	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	256;227;363|.	B4DX29;G5E9L0;Q8N6H7|.	.;.;ARFG2_HUMAN|.	L|P	227;363;94;256;70;227|84	ENSP00000400226:F227L;ENSP00000434442:F363L;ENSP00000327309:F94L;ENSP00000389264:F256L;ENSP00000437305:F70L;ENSP00000434433:F227L|.	ENSP00000327309:F94L|.	F|L	-|-	1|2	0|0	ARFGAP2|ARFGAP2	47146154|47146154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.847000|5.847000	0.69451|0.69451	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.512	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		3	61	0	0	0	1	0	3	61					G	47189578	A	G	47189578	3	3	355	1	0	0	0	0	1	0	0	0	850	72	3	3	498	3	ARFGAP2	11	47189578	Missense_Mutation	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		47189578	87816938	6	6052											
HSF4	3299	broad.mit.edu	37	16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.S491P|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002erl.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1471-1473)Tcc>Ccc		Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA.							39	45	43					16																	67203680		1849	4065	5914	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203680T>C	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1471T>C	16.37:g.67203680T>C	ENSP00000430947:p.Ser491Pro		Somatic	OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	HSF4_uc002erm.2_Missense_Mutation_p.S461P|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript|NOL3_uc010vjc.2_5'Flank	p.S491P	NM_001040667	NP_001035757	WXS	Illumina GAIIx	Phase_I	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	14	2436	+		Ovarian(137;0.0563)	491					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1471T>C	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846491|2.846491	0.51164|0.51164	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.45|3.45	0.39498|0.39498	.|.	.|0.435053	.|0.19894	.|N	.|0.103661	T|T	0.40040|0.40040	0.1101|0.1101	N|N	0.24115|0.24115	0.695|0.695	0.26638|0.26638	N|N	0.97234|0.97234	.|D;P	.|0.76494	.|0.999;0.895	.|D;B	.|0.68943	.|0.961;0.38	T|T	0.08848|0.08848	-1.0702|-1.0702	5|9	.|0.72032	.|D	.|0.01	-12.8056|-12.8056	7.8381|7.8381	0.29382|0.29382	0.0:0.0:0.2114:0.7886|0.0:0.0:0.2114:0.7886	.|.	.|461;491	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	P|P	222;134|461;491;415;491	.|.	.|ENSP00000264009:S491P	L|S	+|+	2|1	0|0	HSF4|HSF4	65761181|65761181	0.215000|0.215000	0.23574|0.23574	0.982000|0.982000	0.44146|0.44146	0.184000|0.184000	0.23303|0.23303	1.280000|1.280000	0.33202|0.33202	2.063000|2.063000	0.61619|0.61619	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		3	109	0	0	0	1	0	3	109					C	67203680	T	C	67203680	3	2	355	1	0	0	0	0	1	0	0	0	7398	1551	54	3	1535	3	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		67203680	23151073	7	6053											
ZFHX3	463	broad.mit.edu	37	16	72845826	72845826	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr16:72845826G>C	ENST00000268489.5	-	6	4313	c.3641C>G	c.(3640-3642)gCt>gGt	p.A1214G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A300G|RP5-991G20.2_ENST00000558618.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1214					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)				GATCTCCTCAGCTGTTTTTGG	0.542																																						uc002fck.3																			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.(3640-3642)gCt>gGt		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							181	188	186					16																	72845826		2198	4300	6498	SO:0001583	missense	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.chr16:72845826G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3641C>G	16.37:g.72845826G>C	ENSP00000268489:p.Ala1214Gly		Somatic				ZFHX3_uc002fcl.3_Missense_Mutation_p.A300G	p.A1214G	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			5	4314	-		Ovarian(137;0.13)	1214					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3641C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350456	0.41599	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73897	-0.79;-0.78	5.86	5.86	0.93980	.	0.151040	0.30649	N	0.009170	T	0.61489	0.2351	L	0.27053	0.805	0.28636	N	0.907434	P	0.34546	0.456	B	0.33521	0.165	T	0.57394	-0.7819	10	0.25751	T	0.34	.	13.3936	0.60836	0.0724:0.0:0.9276:0.0	.	1214	Q15911	ZFHX3_HUMAN	G	1214;300	ENSP00000268489:A1214G;ENSP00000438926:A300G	ENSP00000268489:A1214G	A	-	2	0	ZFHX3	71403327	1.000000	0.71417	0.956000	0.39512	0.990000	0.78478	6.615000	0.74201	2.937000	0.99478	0.650000	0.86243	GCT		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		123	227	0	0	0	1	0	123	227					C	72845826	G	C	72845826	3	2	355	1	0	0	0	0	1	0	0	0	17631	971	34	4	7490	4	ZFHX3	16	72845826	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	5642146	72845826	17508927	8	6054											
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr17:8397110C>G	ENST00000269243.4	-	30	4195	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E1384Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587																																						uc002glm.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4150-4152)Gag>Cag		Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.							85	77	80					17																	8397110		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity	g.chr17:8397110C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4057G>C	17.37:g.8397110C>G	ENSP00000269243:p.Glu1353Gln		Somatic				MYH10_uc002gll.3_Missense_Mutation_p.E1353Q|MYH10_uc010cnx.3_Missense_Mutation_p.E1362Q	p.E1384Q	NM_005964	NP_005955	WXS	Illumina GAIIx	Phase_I	P35580	MYH10_HUMAN			31	4246	-			1353					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4150G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496514	0.64186	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.2	4.22	0.49857	Myosin tail (1);	0.051659	0.85682	D	0.000000	D	0.93203	0.7835	M	0.90759	3.145	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.70016	0.967;0.959;0.967	D	0.94653	0.7841	10	0.87932	D	0	.	15.2172	0.73277	0.1418:0.8582:0.0:0.0	.	1362;1384;1353	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1353;1384;1374;1369	ENSP00000269243:E1353Q;ENSP00000353590:E1384Q;ENSP00000379539:E1374Q;ENSP00000369315:E1369Q	ENSP00000269243:E1353Q	E	-	1	0	MYH10	8337835	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	7.609000	0.82925	1.401000	0.46761	-0.181000	0.13052	GAG		0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			3	52	0	0	0	1	0	3	52					G	8397110	C	G	8397110	3	3	355	1	0	0	0	0	1	0	0	0	10030	864	30	4	1921	4	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-FK-A3SB-01A-11D-A22D-08		8397110	72798100	9	6055											
GMIP	51291	broad.mit.edu	37	19	19750895	19750895	+	Splice_Site	SNP	T	T	C			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:19750895T>C	ENST00000203556.4	-	7	673	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	GMIP_ENST00000587238.1_Splice_Site_p.Q179R|GMIP_ENST00000445806.2_Splice_Site_p.Q179R	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	179					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCCTCACCTGGTAGTAGTC	0.577																																						uc002nnd.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.e7+1		Homo sapiens GEM interacting protein (GMIP), mRNA.							91	72	79					19																	19750895		2203	4300	6503	SO:0001630	splice_region_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding	g.chr19:19750895T>C	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.537+1A>G	19.37:g.19750895T>C			Somatic				GMIP_uc010xrb.2_Splice_Site_p.Q179_splice|GMIP_uc010xrc.2_Splice_Site_p.Q179_splice	p.Q179_splice	NM_016573	NP_057657	WXS	Illumina GAIIx	Phase_I	Q9P107	GMIP_HUMAN			7	654	-			179					A0AVN9|B7ZLZ0	Splice_Site	SNP	ENST00000203556.4	37	c.537_splice	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386310	0.82902	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.43294	0.95;0.95	4.98	4.98	0.66077	.	0.000000	0.42172	D	0.000744	T	0.62696	0.2449	M	0.84082	2.675	0.58432	D	0.999998	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.59948	0.866;0.866;0.866	T	0.69375	-0.5162	10	0.87932	D	0	-28.8197	12.6474	0.56742	0.0:0.0:0.0:1.0	.	179;179;179	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	R	179	ENSP00000203556:Q179R;ENSP00000397075:Q179R	ENSP00000203556:Q179R	Q	-	2	0	GMIP	19611895	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.327000	0.52045	1.871000	0.54225	0.459000	0.35465	CAG		0.577	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573	Missense_Mutation	11	32	0	0	0	1	0	11	32					C	19750895	T	C	19750895	5	2	355	1	0	0	0	0	0	0	1	0	6491	1594	55	3	2436	3	GMIP	19	19750895	Splice_Site	SNP	T	TCGA-FK-A3SB-01A-11D-A22D-08		19750895	39378088	10	6056											
MYH14	79784	broad.mit.edu	37	19	50812344	50812344	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:50812344G>A	ENST00000596571.1	+	39	5747	c.5747G>A	c.(5746-5748)gGc>gAc	p.G1916D	CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000601313.1_Missense_Mutation_p.G1957D|MYH14_ENST00000376970.2_Missense_Mutation_p.G1949D|MYH14_ENST00000440075.2_Missense_Mutation_p.G1957D|MYH14_ENST00000598205.1_Missense_Mutation_p.G1924D|MYH14_ENST00000262269.8_Missense_Mutation_p.G1957D|MYH14_ENST00000425460.1_Missense_Mutation_p.G1924D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1916					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTCAGGCCGGCCGCCGGAGG	0.627																																						uc010enu.1																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5869-5871)gGc>gAc		Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.							50	56	54					19																	50812344		2075	4194	6269	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	g.chr19:50812344G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5747G>A	19.37:g.50812344G>A	ENSP00000472819:p.Gly1916Asp		Somatic				MYH14_uc002prq.1_Missense_Mutation_p.G1924D|MYH14_uc002prr.1_Missense_Mutation_p.G1916D|MYH14_uc010ycb.2_Missense_Mutation_p.G267D|MYH14_uc002prs.1_Missense_Mutation_p.G267D	p.G1957D	NM_001145809	NP_001139281	WXS	Illumina GAIIx	Phase_I	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	41	5917	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1916					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5870G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606677	0.28623	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	3.82	1.57	0.23409	Myosin tail (1);	.	.	.	.	T	0.67477	0.2897	L	0.34521	1.04	0.09310	N	1	B;B;B	0.26318	0.12;0.146;0.053	B;B;B	0.32928	0.138;0.155;0.062	T	0.60647	-0.7222	9	0.87932	D	0	.	6.3842	0.21552	0.0:0.167:0.455:0.378	.	1957;1916;1924	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	D	1957;1949;1924;1700;1957	ENSP00000406273:G1957D;ENSP00000366169:G1949D;ENSP00000407879:G1924D;ENSP00000262269:G1957D	ENSP00000262269:G1957D	G	+	2	0	MYH14	55504156	0.000000	0.05858	0.593000	0.28771	0.965000	0.64279	-0.170000	0.09897	0.355000	0.24131	0.462000	0.41574	GGC		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		3	100	0	0	0	1	0	3	100					A	50812344	G	A	50812344	3	1	355	1	0	0	0	0	1	0	0	0	10033	1203	42	2	6032	2	MYH14	19	50812344	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	31061449	50812344	8316639	11	6057											
CACNG7	59284	broad.mit.edu	37	19	54416099	54416099	+	Missense_Mutation	SNP	G	G	T			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr19:54416099G>T	ENST00000391767.1	+	2	226	c.14G>T	c.(13-15)aGc>aTc	p.S5I	CACNG7_ENST00000391766.1_Missense_Mutation_p.S5I|CACNG7_ENST00000222212.2_Missense_Mutation_p.S5I|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	5					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGTCACTGCAGCAGCCGCGCC	0.637											OREG0003671	type=REGULATORY REGION|Gene=CACNG7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qcr.2																			0		p.C4S(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(13-15)aGc>aTc		Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.							47	42	44					19																	54416099		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416099G>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"Calcium channel subunits"	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.14G>T	19.37:g.54416099G>T	ENSP00000375647:p.Ser5Ile		Somatic	OREG0003671	type=REGULATORY REGION|Gene=CACNG7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1000	CACNG7_uc010era.2_Missense_Mutation_p.S5I	p.S5I	NM_031896	NP_114102	WXS	Illumina GAIIx	Phase_I	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	0	109	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		5					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.14G>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883799	0.91814	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.77877	-0.15;-0.15;-1.13	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.27053	0.805	0.80722	D	1	D	0.58970	0.984	P	0.53689	0.732	T	0.78775	-0.2072	10	0.59425	D	0.04	-30.7055	14.6399	0.68717	0.0:0.0:1.0:0.0	.	5	P62955	CCG7_HUMAN	I	5	ENSP00000375647:S5I;ENSP00000222212:S5I;ENSP00000375646:S5I	ENSP00000222212:S5I	S	+	2	0	CACNG7	59107911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.072000	0.93986	2.411000	0.81874	0.561000	0.74099	AGC		0.637	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			3	72	0	0	0	1	0	3	72					T	54416099	G	T	54416099	3	4	355	1	0	0	0	0	1	0	0	0	2562	971	34	4	16	4	CACNG7	19	54416099	Missense_Mutation	SNP	G	TCGA-FK-A3SB-01A-11D-A22D-08	3603755	54416099	4712884	12	6058											
EIF3L	51386	broad.mit.edu	37	22	38251638	38251638	+	Silent	SNP	A	A	G			TCGA-FK-A3SB-01A-11D-A22D-08	TCGA-FK-A3SB-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7	c7f4c035-cf6d-455d-9f91-540c961ceb34	g.chr22:38251638A>G	ENST00000412331.2	+	4	942	c.360A>G	c.(358-360)ccA>ccG	p.P120P	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000381683.6_Silent_p.P120P	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCATTGCTCCACAGGTTGGCA	0.448																																						uc003auf.3																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(358-360)ccA>ccG		Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.							60	56	57					22																	38251638		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38251638A>G	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.360A>G	22.37:g.38251638A>G			Somatic				EIF3L_uc011ann.2_Silent_p.P120P|EIF3L_uc003aug.3_Intron	p.P120P	NM_016091	NP_057175	WXS	Illumina GAIIx	Phase_I	Q9Y262	EIF3L_HUMAN			3	438	+			120						Silent	SNP	ENST00000412331.2	37	c.360A>G	CCDS13960.1																																																																																				0.448	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		10	29	0	0	0	1	0	10	29					G	38251638	A	G	38251638	2	3	355	1	0	0	0	0	0	0	0	1	5022	146	6	3		3	EIF3L	22	38251638	Silent	SNP	A	TCGA-FK-A3SB-01A-11D-A22D-08		38251638	13052928	13	6059											
MYOM3	127294	broad.mit.edu	37	1	24424482	24424482	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:24424482C>T	ENST00000374434.3	-	7	838	c.676G>A	c.(676-678)Gca>Aca	p.A226T	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.A227T|MYOM3_ENST00000329601.7_Missense_Mutation_p.A226T	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	226	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGTAAGTTGCTGAGTCCTCA	0.582																																						uc001bin.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(676-678)Gca>Aca		Homo sapiens myomesin family, member 3 (MYOM3), mRNA.							131	141	138					1																	24424482		2045	4192	6237	SO:0001583	missense	127294							g.chr1:24424482C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.676G>A	1.37:g.24424482C>T	ENSP00000363557:p.Ala226Thr		Somatic				MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Missense_Mutation_p.A226T|MYOM3_uc001bip.1_5'UTR	p.A226T	NM_152372	NP_689585	WXS	Illumina GAIIx	Phase_I	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	6	839	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	226			Ig-like C2-type 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.676G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677775	0.68042	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.67523	-0.27;-0.27;-0.27	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324245	0.32190	N	0.006442	T	0.80969	0.4726	M	0.87827	2.91	0.33713	D	0.615984	P;D	0.56746	0.618;0.977	P;P	0.55824	0.698;0.785	D	0.88786	0.3274	10	0.87932	D	0	.	16.0063	0.80363	0.0:1.0:0.0:0.0	.	226;226	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	T	226;227;226	ENSP00000363557:A226T;ENSP00000332670:A227T;ENSP00000328415:A226T	ENSP00000328415:A226T	A	-	1	0	MYOM3	24297069	0.620000	0.27068	0.995000	0.50966	0.335000	0.28730	4.265000	0.58865	2.518000	0.84900	0.555000	0.69702	GCA		0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	205	0	0	0	1	0	4	205					T	24424482	C	T	24424482	3	4	356	1	0	0	0	0	1	0	0	0	10093	797	28	2	3761	2	MYOM3	1	24424482	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08		24424482	224826139	1	6060											
MOV10	4343	broad.mit.edu	37	1	113241362	113241362	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:113241362C>G	ENST00000413052.2	+	17	2924	c.2534C>G	c.(2533-2535)aCc>aGc	p.T845S	MOV10_ENST00000357443.2_Missense_Mutation_p.T845S|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.T789S|MOV10_ENST00000369645.1_Missense_Mutation_p.T845S|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	845					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACTGCATCACCAAACTTGAC	0.557																																						uc001eck.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2533-2535)aCc>aGc		Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.							302	271	281					1																	113241362		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding	g.chr1:113241362C>G	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2534C>G	1.37:g.113241362C>G	ENSP00000399797:p.Thr845Ser		Somatic				MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.T845S|MOV10_uc001ecm.3_Missense_Mutation_p.T785S	p.T845S	NM_001130079	NP_066014	WXS	Illumina GAIIx	Phase_I	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	16	2804	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	845					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2534C>G	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706939	0.48412	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	4.85	4.85	0.62838	.	0.302551	0.36303	N	0.002680	T	0.74435	0.3716	N	0.13003	0.285	0.80722	D	1	B	0.19200	0.034	B	0.28385	0.089	T	0.69741	-0.5063	10	0.15066	T	0.55	-18.6234	9.2376	0.37475	0.0:0.9006:0.0:0.0994	.	845	Q9HCE1	MOV10_HUMAN	S	845;845;789;845;783	ENSP00000399797:T845S;ENSP00000358659:T845S;ENSP00000358658:T789S;ENSP00000350028:T845S	ENSP00000350028:T845S	T	+	2	0	MOV10	113042885	0.986000	0.35501	1.000000	0.80357	0.986000	0.74619	2.787000	0.47798	2.241000	0.73720	0.313000	0.20887	ACC		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		4	283	0	0	0	1	0	4	283					G	113241362	C	G	113241362	3	3	356	1	0	0	0	0	1	0	0	0	9718	507	18	4	2596	4	MOV10	1	113241362	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	88816880	113241362	136009259	2	6061											
PDE4DIP	9659	broad.mit.edu	37	1	144859906	144859906	+	Missense_Mutation	SNP	G	G	T	rs182136884		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:144859906G>T	ENST00000369354.3	-	38	6367	c.6178C>A	c.(6178-6180)Cag>Aag	p.Q2060K	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2196K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2145K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2060K|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1954K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2060					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)		TGAATGCTCTGCTCCAGCTGC	0.577			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		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.(6178-6180)Cag>Aag		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							82	77	79					1																	144859906		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	g.chr1:144859906G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6178C>A	1.37:g.144859906G>T	ENSP00000358360:p.Gln2060Lys		Somatic				NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q2060K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q1954K|PDE4DIP_uc001elv.4_Missense_Mutation_p.Q1067K	p.Q2060K	NM_001198834	NP_001185763	WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6480	-			2060					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.6178C>A	CCDS30824.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.396	-0.579398	0.03854	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01505	4.82;4.91;4.91;4.92;4.91	5.1	0.961	0.19638	.	.	.	.	.	T	0.00608	0.0020	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.0	T	0.45731	-0.9241	9	0.34782	T	0.22	.	2.6421	0.04974	0.1614:0.2665:0.4356:0.1366	.	1954;2060	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1954;2060;2060;2145;2196	ENSP00000327209:Q1954K;ENSP00000358360:Q2060K;ENSP00000358363:Q2060K;ENSP00000435654:Q2145K;ENSP00000358366:Q2196K	ENSP00000327209:Q1954K	Q	-	1	0	PDE4DIP	143571263	0.990000	0.36364	0.996000	0.52242	0.001000	0.01503	0.798000	0.27014	0.255000	0.21593	-0.894000	0.02916	CAG		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	135	0	0	0	1	0	8	135					T	144859906	G	T	144859906	3	4	356	1	0	0	0	0	1	0	0	0	11643	1328	46	4	890	4	PDE4DIP	1	144859906	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	31618544	144859906	104390715	3	6062											
NCOA1	8648	broad.mit.edu	37	2	24964736	24964736	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:24964736G>A	ENST00000406961.1	+	19	4039	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	NCOA1_ENST00000405141.1_Silent_p.Q1129Q|NCOA1_ENST00000348332.3_Silent_p.Q1129Q|NCOA1_ENST00000288599.5_Silent_p.Q1129Q|NCOA1_ENST00000407230.1_Silent_p.Q978Q|NCOA1_ENST00000395856.3_Silent_p.Q1129Q|NCOA1_ENST00000538539.1_Silent_p.Q1129Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1129	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATACAGCAGCAAAGAGCCA	0.522			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.3				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3385-3387)caG>caA		Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.							109	93	98					2																	24964736		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24964736G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3387G>A	2.37:g.24964736G>A			Somatic				NCOA1_uc010eye.3_Silent_p.Q1129Q|NCOA1_uc002rfi.3_Silent_p.Q978Q|NCOA1_uc002rfj.3_Silent_p.Q1129Q|NCOA1_uc002rfl.3_Silent_p.Q1129Q|NCOA1_uc010eyf.3_Silent_p.Q22Q	p.Q1129Q	NM_003743	NP_003734	WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			16	3646	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1129			Gln-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.3387G>A	CCDS1712.1																																																																																				0.522	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		3	76	0	0	0	1	0	3	76					A	24964736	G	A	24964736	2	1	356	1	0	0	0	0	0	0	0	1	10228	962	34	2		2	NCOA1	2	24964736	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		24964736	218234637	4	6063											
FBXO11	80204	broad.mit.edu	37	2	48066119	48066119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:48066119G>A	ENST00000403359.3	-	4	538	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	FBXO11_ENST00000316377.4_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000378314.3_Nonsense_Mutation_p.Q38*|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.Q72*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	156	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTTCTCCTGAAGATACTGT	0.353			"Mis, F, D"		DLBCL																																	uc002rwe.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(466-468)Cag>Tag		Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.							81	78	79					2																	48066119		2203	4300	6503	SO:0001587	stop_gained	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066119G>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.466C>T	2.37:g.48066119G>A	ENSP00000384823:p.Gln156*		Somatic				FBXO11_uc010fbl.3_Nonsense_Mutation_p.Q72*|FBXO11_uc002rwg.2_Nonsense_Mutation_p.Q156*|FBXO11_uc021vhe.1_5'Flank	p.Q156*	NM_001190274	NP_001177203	WXS	Illumina GAIIx	Phase_I	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	539	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	156			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	ENST00000403359.3	37	c.466C>T	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408787	0.96072	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	.	.	.	5.6	5.6	0.85130	.	0.049923	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.3811	19.6087	0.95589	0.0:0.0:1.0:0.0	.	.	.	.	X	72;156;72;72;38	.	ENSP00000323822:Q72X	Q	-	1	0	FBXO11	47919623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.865000	0.99609	2.629000	0.89072	0.563000	0.77884	CAG		0.353	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		5	101	0	0	0	1	0	5	101					A	48066119	G	A	48066119	4	1	356	1	0	0	0	0	0	1	0	0	5727	1299	45	2	2487	2	FBXO11	2	48066119	Nonsense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	23101383	48066119	195133254	5	6064											
KBTBD10	10324	broad.mit.edu	37	2	170367185	170367185	+	Silent	SNP	A	A	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:170367185A>C	ENST00000284669.1	+	1	974	c.897A>C	c.(895-897)ggA>ggC	p.G299G	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	299					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)											CCAGGCATGGAATGTTTGTAA	0.473																																						uc002ueu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						c.(895-897)ggA>ggC		Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.							139	139	139					2																	170367185		2203	4300	6503	SO:0001819	synonymous_variant	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170367185A>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.897A>C	2.37:g.170367185A>C			Somatic				KBTBD10_uc010zdh.1_Intron	p.G299G	NM_006063	NP_006054	WXS	Illumina GAIIx	Phase_I	O60662	KBTBA_HUMAN			0	974	+			299					Q53R42	Silent	SNP	ENST00000284669.1	37	c.897A>C	CCDS2234.1																																																																																				0.473	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		3	80	0	0	0	1	0	3	80					C	170367185	A	C	170367185	2	2	356	1	0	0	0	0	0	0	0	1	7990	233	9	5		5	KBTBD10	2	170367185	Silent	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	122301066	170367185	72832188	6	6065											
TMPRSS11B	132724	broad.mit.edu	37	4	69107516	69107516	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69107516G>A	ENST00000332644.5	-	2	176	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	5						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGGAAGATATGCCGTGCCTAT	0.378																																						uc003hdw.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(13-15)ggC>ggT		Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.							71	69	70					4																	69107516		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69107516G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.15C>T	4.37:g.69107516G>A			Somatic					p.G5G	NM_182502	NP_872308	WXS	Illumina GAIIx	Phase_I	Q86T26	TM11B_HUMAN			1	151	-			5					A8K4D9	Silent	SNP	ENST00000332644.5	37	c.15C>T	CCDS3521.1																																																																																				0.378	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		15	36	0	0	0	1	0	15	36					A	69107516	G	A	69107516	2	1	356	1	0	0	0	0	0	0	0	1	16237	1306	46	2		2	TMPRSS11B	4	69107516	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		69107516	122046760	7	6066											
UGT2B7	7364	broad.mit.edu	37	4	69962710	69962710	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69962710G>A	ENST00000508661.1	+	1	499	c.472G>A	c.(472-474)Gag>Aag	p.E158K	UGT2B7_ENST00000305231.7_Missense_Mutation_p.E158K|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	158					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCCTGTAGTGAGCTGCTGGC	0.368																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(472-474)Gag>Aag		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							137	137	137					4																	69962710		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962710G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"UDP glucuronosyltransferases"	12554	protein-coding gene	gene with protein product		600068	"UDP glycosyltransferase 2 family, polypeptide B7"			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.472G>A	4.37:g.69962710G>A	ENSP00000427659:p.Glu158Lys		Somatic				UGT2B7_uc010ihq.3_Missense_Mutation_p.E158K	p.E158K	NM_001074	NP_001065	WXS	Illumina GAIIx	Phase_I	P16662	UD2B7_HUMAN			0	518	+			158					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	G	16.20	3.055578	0.55325	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.081913	0.47852	U	0.000201	T	0.77116	0.4083	M	0.92604	3.325	0.26437	N	0.975838	P;P	0.51147	0.942;0.736	P;P	0.62435	0.902;0.641	T	0.69665	-0.5084	9	.	.	.	.	10.7765	0.46353	0.0:0.0:1.0:0.0	.	158;158	E9PBP8;P16662	.;UD2B7_HUMAN	K	158	ENSP00000304811:E158K;ENSP00000427659:E158K	.	E	+	1	0	UGT2B7	69997299	1.000000	0.71417	0.539000	0.28077	0.027000	0.11550	5.430000	0.66501	1.408000	0.46895	0.313000	0.20887	GAG		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		36	117	0	0	0	1	0	36	117					A	69962710	G	A	69962710	3	1	356	1	0	0	0	0	1	0	0	0	16959	1291	45	2	474	2	UGT2B7	4	69962710	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	855194	69962710	121191566	8	6067											
PPWD1	23398	broad.mit.edu	37	5	64875316	64875317	+	Missense_Mutation	DNP	TA	TA	GC			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:64875316_64875317TA>GC	ENST00000261308.5	+	7	1298_1299	c.1226_1227TA>GC	c.(1225-1227)aTA>aGC	p.I409S	PPWD1_ENST00000535264.1_Missense_Mutation_p.I379S|PPWD1_ENST00000538977.1_Missense_Mutation_p.I253S	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	409					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTCCAGGGGATAGCCAAAAAGC	0.356																																						uc003jtv.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1225-1227)ata>aGC		Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.																																				SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64875316_64875317TA>GC	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	Exception_encountered	5.37:g.64875316_64875317delinsGC	ENSP00000261308:p.Ile409Ser		Somatic				PPWD1_uc011cqv.2_Missense_Mutation_p.I379S|PPWD1_uc011cqw.2_Missense_Mutation_p.I253S	p.I409S	NM_015342	NP_056157	WXS	Illumina GAIIx	Phase_I	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	6	1233_1234	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	409					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	DNP	ENST00000261308.5	37	c.1226_1227TA>GC	CCDS3985.1																																																																																				0.356	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		3	71	0	0	0	1	0	3	71					GC	64875317	TA	GC	64875316	3	3	356	1	0	0	0	0	1	0	0	0	12414	1406	49	5	1252	5	PPWD1	5	64875316	Missense_Mutation	DNP	TA	TCGA-FK-A3SD-01A-11D-A22D-08		64875316	116039944	9	6068											
IK	3550	broad.mit.edu	37	5	140038918	140038918	+	Splice_Site	SNP	G	G	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:140038918G>T	ENST00000417647.2	+	13	1334	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	399					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGACAAAGGTGAGTTGTA	0.498																																						uc003lgq.3																			0				large_intestine(1)	1						c.e13+1		Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.							123	113	116					5																	140038918		1996	4176	6172	SO:0001630	splice_region_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140038918G>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1195+1G>T	5.37:g.140038918G>T			Somatic				IK_uc021yen.1_Splice_Site_p.G340_splice|U7_uc021yeo.1_5'Flank	p.G399_splice	NM_006083	NP_006074	WXS	Illumina GAIIx	Phase_I	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1305	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	399					Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37	c.1195_splice	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494184	0.97612	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.35	5.35	0.76521	.	0.055106	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	17.9993	0.89194	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000396301:G399X	G	+	1	0	IK	140019102	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.538000	0.67193	2.663000	0.90544	0.655000	0.94253	GGA		0.498	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Nonsense_Mutation	4	78	0	0	0	1	0	4	78					T	140038918	G	T	140038918	5	4	356	1	0	0	0	0	0	0	1	0	7608	1014	35	4	1245	4	IK	5	140038918	Splice_Site	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	75163602	140038918	40876342	10	6069											
ZBTB22	9278	broad.mit.edu	37	6	33283595	33283595	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:33283595G>A	ENST00000431845.2	-	2	1250	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P367S|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	367					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(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TTGTCTGGGGGCTCACTCAGG	0.577																																						uc003oeb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1099-1101)Ccc>Tcc		Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.							113	111	112					6																	33283595		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283595G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1099C>T	6.37:g.33283595G>A	ENSP00000407545:p.Pro367Ser		Somatic				TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P367S|ZBTB22_uc021ywm.1_Missense_Mutation_p.P367S	p.P367S	NM_005453	NP_005444	WXS	Illumina GAIIx	Phase_I	O15209	ZBT22_HUMAN			1	1251	-			367					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1099C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425258	0.11987	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.05447	3.44;3.44	4.09	4.09	0.47781	.	0.000000	0.33346	N	0.005015	T	0.01940	0.0061	L	0.38175	1.15	0.33034	D	0.530528	P	0.47762	0.9	B	0.38954	0.286	T	0.45071	-0.9286	10	0.09338	T	0.73	.	13.8509	0.63496	0.0:0.0:1.0:0.0	.	367	O15209	ZBT22_HUMAN	S	367	ENSP00000404403:P367S;ENSP00000407545:P367S	ENSP00000404403:P367S	P	-	1	0	ZBTB22	33391573	1.000000	0.71417	0.989000	0.46669	0.778000	0.44026	3.538000	0.53597	2.107000	0.64212	0.448000	0.29417	CCC		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			14	156	0	0	0	1	0	14	156					A	33283595	G	A	33283595	3	1	356	1	0	0	0	0	1	0	0	0	17527	1203	42	2	809	2	ZBTB22	6	33283595	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		33283595	137831472	11	6070											
TBC1D22B	55633	broad.mit.edu	37	6	37254821	37254821	+	Silent	SNP	G	G	A	rs74511891		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:37254821G>A	ENST00000373491.3	+	7	986	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	280	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CTCTCATTCCGTTGTTCCAGC	0.418													G|||	1	0.000199681	0	0	5008	,	,		20624	0.001		0	False		,,,				2504	0					uc003onn.3																			0		p.P280Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(838-840)ccG>ccA		Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.							169	157	161					6																	37254821		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37254821G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.840G>A	6.37:g.37254821G>A			Somatic				TBC1D22B_uc010jwt.3_Non-coding_Transcript	p.P280P	NM_017772	NP_060242	WXS	Illumina GAIIx	Phase_I	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		6	986	+			280			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.840G>A	CCDS4832.1																																																																																				0.418	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		70	96	0	0	0	1	0	70	96					A	37254821	G	A	37254821	2	1	356	1	0	0	0	0	0	0	0	1	15609	1132	40	1		1	TBC1D22B	6	37254821	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	3971226	37254821	133860246	12	6071											
MDN1	23195	broad.mit.edu	37	6	90371839	90371839	+	Silent	SNP	T	T	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:90371839T>C	ENST00000369393.3	-	87	14647	c.14532A>G	c.(14530-14532)caA>caG	p.Q4844Q	MDN1_ENST00000428876.1_Silent_p.Q4844Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4844					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)		TGTCTTCACCTTGTCCACCAT	0.388																																						uc003pnn.1																			0				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						c.(14530-14532)caA>caG		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							424	370	388					6																	90371839		2203	4299	6502	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90371839T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14532A>G	6.37:g.90371839T>C			Somatic					p.Q4844Q	NM_014611	NP_055426	WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	86	14648	-		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)	4844					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.14532A>G	CCDS5024.1																																																																																				0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	172	0	0	0	1	0	3	172					C	90371839	T	C	90371839	2	2	356	1	0	0	0	0	0	0	0	1	9415	1606	56	3		3	MDN1	6	90371839	Silent	SNP	T	TCGA-FK-A3SD-01A-11D-A22D-08	53117018	90371839	80743228	13	6072											
ELMO1	9844	broad.mit.edu	37	7	37172827	37172827	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr7:37172827G>C	ENST00000310758.4	-	14	1746	c.1099C>G	c.(1099-1101)Cct>Gct	p.P367A	ELMO1_ENST00000341056.3_Missense_Mutation_p.P69A|ELMO1_ENST00000448602.1_Missense_Mutation_p.P367A|ELMO1_ENST00000442504.1_Missense_Mutation_p.P367A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	367	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCATGGCAGGGTTGACATGA	0.463																																						uc022abv.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1099-1101)Cct>Gct		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							143	123	130					7																	37172827		2203	4300	6503	SO:0001583	missense	9844				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172827G>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1099C>G	7.37:g.37172827G>C	ENSP00000312185:p.Pro367Ala		Somatic				ELMO1_uc011kbc.2_Missense_Mutation_p.P271A|ELMO1_uc003tfk.2_Missense_Mutation_p.P367A|ELMO1_uc010kxg.2_Missense_Mutation_p.P367A	p.P367A	NM_001206482	NP_001193411	WXS	Illumina GAIIx	Phase_I	Q92556	ELMO1_HUMAN			13	1809	-			367			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1099C>G	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668918	0.88348	.	.	ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.27	5.27	0.74061	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.82675	-0.0340	10	0.87932	D	0	.	18.0472	0.89336	0.0:0.0:1.0:0.0	.	367	Q92556	ELMO1_HUMAN	A	69;367;271;367;367	ENSP00000342142:P69A;ENSP00000312185:P367A;ENSP00000406952:P367A;ENSP00000394458:P367A	ENSP00000312185:P367A	P	-	1	0	ELMO1	37139352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.813000	0.91963	2.650000	0.89964	0.655000	0.94253	CCT		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		32	71	0	0	0	1	0	32	71					C	37172827	G	C	37172827	3	2	356	1	0	0	0	0	1	0	0	0	5065	1232	43	4	1120	4	ELMO1	7	37172827	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		37172827	121965836	14	6073											
ARMC3	219681	broad.mit.edu	37	10	23292246	23292246	+	Missense_Mutation	SNP	A	A	G	rs569312673		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:23292246A>G	ENST00000298032.5	+	13	1718	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	ARMC3_ENST00000409049.3_Missense_Mutation_p.N545S|ARMC3_ENST00000409983.3_Missense_Mutation_p.N545S|ARMC3_ENST00000376528.4_Missense_Mutation_p.N282S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	545						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGCTTATAATAAGTTGCTC	0.348																																						uc001irm.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1633-1635)aAt>aGt		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							112	112	112					10																	23292246		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23292246A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1634A>G	10.37:g.23292246A>G	ENSP00000298032:p.Asn545Ser		Somatic				ARMC3_uc010qcv.2_Missense_Mutation_p.N545S|ARMC3_uc010qcw.2_Missense_Mutation_p.N282S	p.N545S	NM_173081	NP_775104	WXS	Illumina GAIIx	Phase_I	Q5W041	ARMC3_HUMAN			12	1717	+			545					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1634A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028836	0.19512	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.37584	1.19;1.19;1.19;2.41	5.53	4.41	0.53225	.	0.849335	0.10961	N	0.615037	T	0.31136	0.0787	L	0.50919	1.6	0.32523	N	0.535935	B;B	0.14012	0.009;0.004	B;B	0.09377	0.004;0.003	T	0.30268	-0.9984	10	0.12103	T	0.63	-16.86	10.8516	0.46773	0.926:0.0:0.0739:0.0	.	545;545	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	545;545;481;545;282	ENSP00000298032:N545S;ENSP00000386943:N545S;ENSP00000387288:N545S;ENSP00000365711:N282S	ENSP00000298032:N545S	N	+	2	0	ARMC3	23332252	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.293000	0.43558	2.093000	0.63338	0.460000	0.39030	AAT		0.348	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		17	101	0	0	0	1	0	17	101					G	23292246	A	G	23292246	3	3	356	1	0	0	0	0	1	0	0	0	952	101	4	3	1680	3	ARMC3	10	23292246	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		23292246	112242501	15	6074											
SUPV3L1	6832	broad.mit.edu	37	10	70968592	70968592	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:70968592C>G	ENST00000359655.4	+	15	2222	c.2162C>G	c.(2161-2163)aCt>aGt	p.T721S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	721	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTAAAGCTACTGAGCCACCC	0.537																																						uc001jpe.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2161-2163)aCt>aGt		Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.							76	70	72					10																	70968592		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70968592C>G	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"suppressor of var1 (S.cerevisiae) 3-like 1"			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2162C>G	10.37:g.70968592C>G	ENSP00000352678:p.Thr721Ser		Somatic				SUPV3L1_uc010qjd.1_Missense_Mutation_p.T590S	p.T721S	NM_003171	NP_003162	WXS	Illumina GAIIx	Phase_I	Q8IYB8	SUV3_HUMAN			14	2217	+			721			Interaction with HBXIP, important for protein stability.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.2162C>G	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.724526	0.00694	.	.	ENSG00000156502	ENST00000359655	T	0.28895	1.59	5.9	2.74	0.32292	.	0.805242	0.11393	N	0.568601	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31586	-0.9938	10	0.09338	T	0.73	0.0536	6.3229	0.21227	0.0:0.5484:0.1342:0.3174	.	721	Q8IYB8	SUV3_HUMAN	S	721	ENSP00000352678:T721S	ENSP00000352678:T721S	T	+	2	0	SUPV3L1	70638598	0.000000	0.05858	0.044000	0.18714	0.047000	0.14425	0.242000	0.18087	1.372000	0.46190	0.650000	0.86243	ACT		0.537	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		3	83	0	0	0	1	0	3	83					G	70968592	C	G	70968592	3	3	356	1	0	0	0	0	1	0	0	0	15399	565	20	4	2220	4	SUPV3L1	10	70968592	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	47676346	70968592	64566155	16	6075											
PTDSS2	81490	broad.mit.edu	37	11	490485	490485	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:490485G>A	ENST00000308020.5	+	12	1543	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	456					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GACCAGGGCAGCACCGTCGGC	0.657																																						uc001lpj.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(1366-1368)aGc>aAc		Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	Phosphatidylserine(DB00144)						68	55	60					11																	490485		2202	4300	6502	SO:0001583	missense	81490					integral to membrane		g.chr11:490485G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1367G>A	11.37:g.490485G>A	ENSP00000308258:p.Ser456Asn		Somatic					p.S456N	NM_030783	NP_110410	WXS	Illumina GAIIx	Phase_I	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	11	1543	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	456						Missense_Mutation	SNP	ENST00000308020.5	37	c.1367G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094975	0.20471	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.46	-0.923	0.10465	.	2.248750	0.01712	N	0.027775	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09443	-1.0674	9	0.17369	T	0.5	-0.5352	2.8286	0.05492	0.3616:0.0:0.4358:0.2026	.	456	Q9BVG9	PTSS2_HUMAN	N	456	.	ENSP00000308258:S456N	S	+	2	0	PTDSS2	480485	0.001000	0.12720	0.011000	0.14972	0.030000	0.12068	0.076000	0.14712	-0.037000	0.13646	0.561000	0.74099	AGC		0.657	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			3	52	0	0	0	1	0	3	52					A	490485	G	A	490485	3	1	356	1	0	0	0	0	1	0	0	0	12737	971	34	2	1413	2	PTDSS2	11	490485	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		490485	134516031	17	6076											
MRGPRX1	259249	broad.mit.edu	37	11	18956155	18956155	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:18956155G>A	ENST00000302797.3	-	1	401	c.177C>T	c.(175-177)aaC>aaT	p.N59N	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	59					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGAGAAGGCGTTCCTGCGCA	0.562																																						uc001mpg.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(175-177)aaC>aaT		Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.							145	140	141					11																	18956155		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956155G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.177C>T	11.37:g.18956155G>A			Somatic					p.N59N	NM_147199	NP_671732	WXS	Illumina GAIIx	Phase_I	Q96LB2	MRGX1_HUMAN			0	395	-			59					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.177C>T	CCDS7846.1																																																																																				0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		6	202	0	0	0	1	0	6	202					A	18956155	G	A	18956155	2	1	356	1	0	0	0	0	0	0	0	1	9766	1136	40	1		1	MRGPRX1	11	18956155	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	18465670	18956155	116050361	18	6077											
NRXN2	9379	broad.mit.edu	37	11	64415766	64415766	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:64415766C>T	ENST00000377551.1	-	16	3539	c.3328G>A	c.(3328-3330)Gtc>Atc	p.V1110I	NRXN2_ENST00000409571.1_Missense_Mutation_p.V1103I|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.V1110I|NRXN2_ENST00000377559.3_Missense_Mutation_p.V1070I			Q9P2S2	NRX2A_HUMAN	neurexin 2	1110	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAAGCAGACGCCCTGGTTG	0.632																																						uc021qkw.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3328-3330)Gtc>Atc		Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.							107	93	98					11																	64415766		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64415766C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3328G>A	11.37:g.64415766C>T	ENSP00000366774:p.Val1110Ile		Somatic				NRXN2_uc021qkx.1_Missense_Mutation_p.V1070I|NRXN2_uc001oas.3_Missense_Mutation_p.V1070I|NRXN2_uc001oaq.3_Missense_Mutation_p.V777I	p.V1110I	NM_015080	NP_055895	WXS	Illumina GAIIx	Phase_I	Q9P2S2	NRX2A_HUMAN			16	3790	-			1110			EGF-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3328G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527781	0.64860	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.34	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38164	U	0.001783	T	0.69387	0.3105	L	0.41236	1.265	0.45662	D	0.998587	D;P;D	0.76494	0.998;0.731;0.999	D;B;D	0.77004	0.989;0.171;0.972	T	0.65459	-0.6163	10	0.25751	T	0.34	.	14.4014	0.67050	0.0:1.0:0.0:0.0	.	1070;1110;856	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	I	1110;1070;1110;1070;1103	ENSP00000366774:V1110I;ENSP00000366782:V1070I;ENSP00000265459:V1110I;ENSP00000386416:V1103I	ENSP00000265459:V1110I	V	-	1	0	NRXN2	64172342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.240000	0.73641	0.655000	0.94253	GTC		0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		5	110	0	0	0	1	0	5	110					T	64415766	C	T	64415766	3	4	356	1	0	0	0	0	1	0	0	0	10666	536	19	1	2107	1	NRXN2	11	64415766	Missense_Mutation	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08	45459611	64415766	70590750	19	6078											
SYT12	91683	broad.mit.edu	37	11	66807525	66807525	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:66807525G>A	ENST00000393946.2	+	7	1634	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	SYT12_ENST00000525457.1_Missense_Mutation_p.V158M|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.V158M			Q8IV01	SYT12_HUMAN	synaptotagmin XII	158						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCAGGTGGAGGTGAGCATGGA	0.627																																					Ovarian(65;2862 3307)	uc009yrl.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(472-474)Gtg>Atg		Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.							76	69	72					11																	66807525		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807525G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"Synaptotagmins"	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.472G>A	11.37:g.66807525G>A	ENSP00000377520:p.Val158Met		Somatic				SYT12_uc001oju.3_Missense_Mutation_p.V158M	p.V158M	NM_001177880	NP_808878	WXS	Illumina GAIIx	Phase_I	Q8IV01	SYT12_HUMAN			3	702	+			158						Missense_Mutation	SNP	ENST00000393946.2	37	c.472G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648710	0.87958	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.73152	-0.72;-0.72;-0.72	5.63	5.63	0.86233	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79642	-0.1718	10	0.87932	D	0	.	17.1708	0.86830	0.0:0.0:1.0:0.0	.	158	Q8IV01	SYT12_HUMAN	M	158	ENSP00000377520:V158M;ENSP00000431400:V158M;ENSP00000435316:V158M	ENSP00000377520:V158M	V	+	1	0	SYT12	66564101	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.813000	0.99286	2.655000	0.90218	0.462000	0.41574	GTG		0.627	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		5	113	0	0	0	1	0	5	113					A	66807525	G	A	66807525	3	1	356	1	0	0	0	0	1	0	0	0	15465	1261	44	2	482	2	SYT12	11	66807525	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	2391759	66807525	68198991	20	6079											
MOGAT2	80168	broad.mit.edu	37	11	75442250	75442250	+	Silent	SNP	T	T	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:75442250T>C	ENST00000198801.5	+	6	994	c.924T>C	c.(922-924)taT>taC	p.Y308Y	MOGAT2_ENST00000526712.1_Silent_p.Y226Y	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	308					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					ACCAGCGTTATATCAAAGAGC	0.562																																						uc010rru.2																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(922-924)taT>taC		Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.							118	103	108					11																	75442250		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442250T>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.924T>C	11.37:g.75442250T>C			Somatic				MOGAT2_uc010rrv.2_Silent_p.Y226Y	p.Y308Y	NM_025098	NP_079374	WXS	Illumina GAIIx	Phase_I	Q3SYC2	MOGT2_HUMAN			5	924	+	Ovarian(111;0.103)		308					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.924T>C	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		4	127	0	0	0	1	0	4	127					C	75442250	T	C	75442250	2	2	356	1	0	0	0	0	0	0	0	1	9695	1413	49	3		3	MOGAT2	11	75442250	Silent	SNP	T	TCGA-FK-A3SD-01A-11D-A22D-08	8634725	75442250	59564266	21	6080											
ZC3H12C	85463	broad.mit.edu	37	11	110035909	110035909	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:110035909A>G	ENST00000278590.3	+	6	2150	c.2099A>G	c.(2098-2100)aAg>aGg	p.K700R	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K701R|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.K669R	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	700							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCATCACAAGCCTCCTCTT	0.587																																						uc010rwc.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2101-2103)aAg>aGg		Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.							158	182	174					11																	110035909		2122	4233	6355	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035909A>G		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2099A>G	11.37:g.110035909A>G	ENSP00000278590:p.Lys700Arg		Somatic				ZC3H12C_uc009yxw.3_Missense_Mutation_p.K700R|ZC3H12C_uc010rwd.2_Missense_Mutation_p.K701R|ZC3H12C_uc001pkr.4_Missense_Mutation_p.K669R	p.K701R	NM_033390	NP_203748	WXS	Illumina GAIIx	Phase_I	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2102	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	700					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2102A>G	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454200	0.84209	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.38077	1.16;1.16;1.19	5.94	4.82	0.62117	.	0.217538	0.48286	D	0.000188	T	0.39627	0.1085	L	0.49126	1.545	0.40954	D	0.984568	D;D;D	0.59767	0.986;0.971;0.986	P;P;P	0.49922	0.626;0.572;0.626	T	0.17410	-1.0370	10	0.32370	T	0.25	-27.6444	11.4763	0.50300	0.9304:0.0:0.0696:0.0	.	701;700;700	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	R	700;701;669	ENSP00000278590:K700R;ENSP00000431821:K701R;ENSP00000413094:K669R	ENSP00000278590:K700R	K	+	2	0	ZC3H12C	109541119	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.175000	0.77632	2.272000	0.75746	0.459000	0.35465	AAG		0.587	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		12	311	0	0	0	1	0	12	311					G	110035909	A	G	110035909	3	3	356	1	0	0	0	0	1	0	0	0	17560	72	3	3	2121	3	ZC3H12C	11	110035909	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	34593659	110035909	24970607	22	6081											
MLL	4297	broad.mit.edu	37	11	118361935	118361935	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:118361935A>G	ENST00000389506.5	+	14	4721	c.4721A>G	c.(4720-4722)aAa>aGa	p.K1574R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1574R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1536R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1574					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCTGTGACAAATGTTATGAT	0.433																																						uc001ptb.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(4720-4722)aAa>aGa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							184	170	174					11																	118361935		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118361935A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4721A>G	11.37:g.118361935A>G	ENSP00000374157:p.Lys1574Arg		Somatic				MLL_uc001pta.3_Missense_Mutation_p.K1574R|MLL_uc001pte.1_Non-coding_Transcript	p.K1574R	NM_001197104	NP_001184033	WXS	Illumina GAIIx	Phase_I	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	13	4744	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1574					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4721A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673836	0.67928	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.87491	-1.91;-1.91;-1.91;-2.26	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	N	0.17838	0.53	0.58432	D	0.999996	D;D	0.76494	0.999;0.957	D;P	0.80764	0.994;0.857	D	0.86191	0.1612	10	0.23891	T	0.37	.	15.6631	0.77203	1.0:0.0:0.0:0.0	.	1574;1574	E9PQG7;Q03164	.;MLL1_HUMAN	R	1574;1574;1536;484;286	ENSP00000436786:K1574R;ENSP00000374157:K1574R;ENSP00000346516:K1536R;ENSP00000376612:K286R	ENSP00000346516:K1536R	K	+	2	0	MLL	117867145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.088000	0.63022	0.533000	0.62120	AAA		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		3	159	0	0	0	1	0	3	159					G	118361935	A	G	118361935	3	3	356	1	0	0	0	0	1	0	0	0	9620	14	1	3	4775	3	MLL	11	118361935	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	8326026	118361935	16644581	23	6082											
SRPR	6734	broad.mit.edu	37	11	126134958	126134958	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:126134958G>A	ENST00000332118.6	-	11	1575	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.A446V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	474					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGGTGTAGGGCACTCAAACG	0.552																																						uc001qdh.3																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1420-1422)gCc>gTc		Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.							71	64	66					11																	126134958		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134958G>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1421C>T	11.37:g.126134958G>A	ENSP00000328023:p.Ala474Val		Somatic				SRPR_uc010sbm.2_Missense_Mutation_p.A446V	p.A474V	NM_003139	NP_003130	WXS	Illumina GAIIx	Phase_I	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	10	1599	-	all_hematologic(175;0.145)		474					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1421C>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667473	0.96745	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.106814	0.64402	D	0.000004	T	0.71256	0.3318	L	0.57536	1.79	0.80722	D	1	P;P	0.45768	0.775;0.866	P;P	0.51974	0.686;0.686	T	0.71318	-0.4629	9	0.49607	T	0.09	-16.4354	19.0619	0.93096	0.0:0.0:1.0:0.0	.	446;474	E9PJS4;P08240	.;SRPR_HUMAN	V	474;446	.	ENSP00000328023:A474V	A	-	2	0	SRPR	125640168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.744000	0.94065	0.650000	0.86243	GCC		0.552	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		3	49	0	0	0	1	0	3	49					A	126134958	G	A	126134958	3	1	356	1	0	0	0	0	1	0	0	0	15161	1203	42	2	511	2	SRPR	11	126134958	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	7773023	126134958	8871558	24	6083											
ITPR2	3709	broad.mit.edu	37	12	26731693	26731693	+	Missense_Mutation	SNP	G	G	A	rs200190856		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:26731693G>A	ENST00000381340.3	-	34	4999	c.4583C>T	c.(4582-4584)gCg>gTg	p.A1528V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1528					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)	GGCTTTCTGCGCTGGGTTTGG	0.393													G|||	1	0.000199681	0	0	5008	,	,		16488	0.001		0	False		,,,				2504	0					uc001rhg.3																		ETV6/ITPR2(2)	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.(4582-4584)gCg>gTg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							120	117	118					12																	26731693		1861	4096	5957	SO:0001583	missense	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.chr12:26731693G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4583C>T	12.37:g.26731693G>A	ENSP00000370744:p.Ala1528Val		Somatic					p.A1528V	NM_002223	NP_002214	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			33	5000	-	Colorectal(261;0.0847)		1528					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4583C>T	CCDS41764.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.368	-0.128998	0.06753	.	.	ENSG00000123104	ENST00000381340	T	0.63913	-0.07	5.12	2.18	0.27775	.	0.641709	0.16752	N	0.200981	T	0.43100	0.1232	N	0.19112	0.55	0.09310	N	0.999999	B	0.19073	0.033	B	0.11329	0.006	T	0.31138	-0.9954	10	0.38643	T	0.18	.	8.9605	0.35845	0.1441:0.126:0.7298:0.0	.	1528	Q14571	ITPR2_HUMAN	V	1528	ENSP00000370744:A1528V	ENSP00000370744:A1528V	A	-	2	0	ITPR2	26622960	0.010000	0.17322	0.002000	0.10522	0.138000	0.21146	1.779000	0.38624	1.379000	0.46325	0.585000	0.79938	GCG		0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	123	0	0	0	1	0	12	123					A	26731693	G	A	26731693	3	1	356	1	0	0	0	0	1	0	0	0	7921	1087	38	1	3618	1	ITPR2	12	26731693	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		26731693	107120202	25	6084											
PA2G4	5036	broad.mit.edu	37	12	56500441	56500441	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:56500441A>G	ENST00000303305.6	+	2	577	c.158A>G	c.(157-159)gAt>gGt	p.D53G	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D34G|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.D53G	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	53	RNA-binding.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			gagaaaggtgatgccatgATT	0.433																																						uc001sjm.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(157-159)gAt>gGt		Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.							78	73	75					12																	56500441		2201	4299	6500	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56500441A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.158A>G	12.37:g.56500441A>G	ENSP00000302886:p.Asp53Gly		Somatic					p.D53G	NM_006191	NP_006182	WXS	Illumina GAIIx	Phase_I	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		1	577	+			53			RNA-binding.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.158A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206618	0.95033	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	6.03	6.03	0.97812	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.94063	3.49	0.80722	D	1	P;D;D	0.71674	0.932;0.998;0.998	P;D;D	0.80764	0.718;0.99;0.994	D	0.93081	0.6491	10	0.87932	D	0	.	15.5407	0.76043	1.0:0.0:0.0:0.0	.	53;53;53	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	G	34;53;53;82;53;53;42	ENSP00000449770:D34G;ENSP00000302886:D53G;ENSP00000448557:D53G;ENSP00000447615:D42G	ENSP00000302886:D53G	D	+	2	0	PA2G4;RP11-603J24.9	54786708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.815000	0.91973	2.308000	0.77769	0.533000	0.62120	GAT		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		20	34	0	0	0	1	0	20	34					G	56500441	A	G	56500441	3	3	356	1	0	0	0	0	1	0	0	0	11361	333	12	3	164	3	PA2G4	12	56500441	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	29768748	56500441	77351454	26	6085											
EID3	493861	broad.mit.edu	37	12	104698071	104698071	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:104698071G>A	ENST00000527879.1	+	1	555	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTAGCATTTTGTGACTTTCTG	0.428																																						uc001tkw.3																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(358-360)tGt>tAt		Homo sapiens EP300 interacting inhibitor of differentiation 3 (EID3), mRNA.							205	204	204					12																	104698071		1970	4155	6125	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104698071G>A	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.359G>A	12.37:g.104698071G>A	ENSP00000435619:p.Cys120Tyr		Somatic				TXNRD1_uc021rcx.1_Intron|TXNRD1_uc021rcy.1_Intron|TXNRD1_uc021rcz.1_Intron|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Intron|TXNRD1_uc001tku.3_Intron|TXNRD1_uc001tkv.2_Intron	p.C120Y	NM_001008394	NP_001008395	WXS	Illumina GAIIx	Phase_I	Q8N140	EID3_HUMAN			0	562	+			120						Missense_Mutation	SNP	ENST00000527879.1	37	c.359G>A	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602009	0.66445	.	.	ENSG00000255150	ENST00000527879	T	0.42131	0.98	4.42	3.45	0.39498	.	.	.	.	.	T	0.48150	0.1484	L	0.51422	1.61	0.09310	N	1	P	0.40230	0.708	P	0.51170	0.661	T	0.27365	-1.0076	9	0.40728	T	0.16	.	9.8419	0.41004	0.0:0.209:0.791:0.0	.	120	Q8N140	EID3_HUMAN	Y	120	ENSP00000435619:C120Y	ENSP00000435619:C120Y	C	+	2	0	EID3	103222201	0.996000	0.38824	0.466000	0.27168	0.505000	0.33919	2.290000	0.43531	2.469000	0.83416	0.555000	0.69702	TGT		0.428	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		5	247	0	0	0	1	0	5	247					A	104698071	G	A	104698071	3	1	356	1	0	0	0	0	1	0	0	0	4989	1377	48	2	361	2	EID3	12	104698071	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	48197630	104698071	29153824	27	6086											
PRKD1	5587	broad.mit.edu	37	14	30133033	30133033	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr14:30133033A>G	ENST00000331968.5	-	4	797	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F190L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	190					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)		GGTATTTTAAATGCACATCTC	0.403																																						uc001wqh.3																			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.(568-570)Ttt>Ctt		Homo sapiens protein kinase D1 (PRKD1), mRNA.							148	151	150					14																	30133033		2203	4300	6503	SO:0001583	missense	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.chr14:30133033A>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.568T>C	14.37:g.30133033A>G	ENSP00000333568:p.Phe190Leu		Somatic				MIR548AI_uc021rrv.1_Intron	p.F190L	NM_002742	NP_002733	WXS	Illumina GAIIx	Phase_I	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	3	749	-	Hepatocellular(127;0.0604)		190					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.568T>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436809	0.83885	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.92545	-3.06;-3.06;-3.06	5.89	5.89	0.94794	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	N	0.01761	-0.735	0.80722	D	1	B	0.28552	0.215	B	0.37943	0.261	D	0.83816	0.0244	10	0.49607	T	0.09	-26.9946	16.3605	0.83263	1.0:0.0:0.0:0.0	.	190	Q15139	KPCD1_HUMAN	L	190;190;113	ENSP00000333568:F190L;ENSP00000390535:F190L;ENSP00000446866:F113L	ENSP00000333568:F190L	F	-	1	0	PRKD1	29202784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.336000	0.96533	2.260000	0.74910	0.529000	0.55759	TTT		0.403	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		12	228	0	0	0	1	0	12	228					G	30133033	A	G	30133033	3	3	356	1	0	0	0	0	1	0	0	0	12518	101	4	3	2230	3	PRKD1	14	30133033	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		30133033	77216507	28	6087											
SULT1A1	6817	broad.mit.edu	37	16	28620147	28620147	+	Silent	SNP	C	C	T	rs368999670		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr16:28620147C>T	ENST00000395607.1	-	2	303	c.30G>A	c.(28-30)ccG>ccA	p.P10P	SULT1A1_ENST00000395609.1_Silent_p.P10P|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.P10P|SULT1A1_ENST00000314752.7_Silent_p.P10P	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	ACTCCAGTGGCGGGCGGGAGG	0.607																																						uc002dqn.3																			0		p.P100L(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(301-303)ccG>ccA		Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.		C	,,,,	2,4392		0,2,2195	49	51	51		30,30,30,30,	-4.8	0.0	16		51	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	,,,,	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	,,,,	10/296,10/296,10/296,10/296,	28620147	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28620147C>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.30G>A	16.37:g.28620147C>T			Somatic				NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.P10P|SULT1A1_uc002dqi.3_Silent_p.P10P|SULT1A1_uc002dqk.3_Silent_p.P10P|SULT1A1_uc002dql.3_Silent_p.P10P|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.P10P	p.P101P	NM_177534	NP_803878	WXS	Illumina GAIIx	Phase_I	P50225	ST1A1_HUMAN			4	895	-			10					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	c.303G>A	CCDS32420.1																																																																																				0.607	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		14	77	0	0	0	1	0	14	77					T	28620147	C	T	28620147	2	4	356	1	0	0	0	0	0	0	0	1	15371	755	27	1		1	SULT1A1	16	28620147	Silent	SNP	C	TCGA-FK-A3SD-01A-11D-A22D-08		28620147	61734606	29	6088											
MYO1C	4641	broad.mit.edu	37	17	1381773	1381773	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:1381773G>A	ENST00000575158.1	-	11	1297	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	MYO1C_ENST00000359786.5_Missense_Mutation_p.P409L|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000438665.2_Missense_Mutation_p.P390L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P374L|MYO1C_ENST00000545534.2_Missense_Mutation_p.P385L			Q12965	MYO1E_HUMAN	myosin IC	382	Myosin motor.				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)		CCGCCAGCTGGGGCTCTCCAC	0.652																																						uc002fsp.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1225-1227)cCc>cTc		Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.							57	65	62					17																	1381773		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:1381773G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1121C>T	17.37:g.1381773G>A	ENSP00000459174:p.Pro374Leu		Somatic				MYO1C_uc002fsn.3_Missense_Mutation_p.P390L|MYO1C_uc002fso.3_Missense_Mutation_p.P374L|MYO1C_uc010vqj.1_Missense_Mutation_p.P374L|MYO1C_uc010vqk.1_Missense_Mutation_p.P385L	p.P409L	NM_001080779	NP_203693	WXS	Illumina GAIIx	Phase_I	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1446	-			409			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1226C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283257	0.40394	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.88431	-2.38;-2.37;-2.37;-2.37	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.547722	0.21668	N	0.070918	D	0.84556	0.5498	L	0.53249	1.67	0.50813	D	0.999898	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.77075	-0.2722	10	0.11485	T	0.65	.	12.2297	0.54480	0.0773:0.0:0.9227:0.0	.	385;409;390	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	L	409;390;390;374;385;374	ENSP00000352834:P409L;ENSP00000412197:P390L;ENSP00000354283:P374L;ENSP00000437685:P385L	ENSP00000352834:P409L	P	-	2	0	MYO1C	1328523	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.313000	0.59160	2.709000	0.92574	0.563000	0.77884	CCC		0.652	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			5	84	0	0	0	1	0	5	84					A	1381773	G	A	1381773	3	1	356	1	0	0	0	0	1	0	0	0	10070	1232	43	2	2053	2	MYO1C	17	1381773	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		1381773	79813437	30	6089											
USP36	57602	broad.mit.edu	37	17	76802345	76802345	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:76802345G>A	ENST00000542802.3	-	15	2552	c.2109C>T	c.(2107-2109)acC>acT	p.T703T	USP36_ENST00000312010.6_Silent_p.T703T|USP36_ENST00000449938.2_Silent_p.T403T|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	703					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.T703T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGTCATTGCCGGTCGCCCTCC	0.542																																						uc002jvz.1																			2	Substitution - coding silent(2)	p.T703T(3)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2107-2109)acC>acT		Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.							71	72	72					17																	76802345		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76802345G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2109C>T	17.37:g.76802345G>A			Somatic				USP36_uc002jwa.1_Silent_p.T703T|USP36_uc002jwb.1_Silent_p.T340T|USP36_uc002jwc.1_Silent_p.T403T	p.T703T	NM_025090	NP_079366	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2434	-			703					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.2109C>T	CCDS32755.1																																																																																				0.542	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		3	108	0	0	0	1	0	3	108					A	76802345	G	A	76802345	2	1	356	1	0	0	0	0	0	0	0	1	17064	1103	39	1		1	USP36	17	76802345	Silent	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	75420572	76802345	4392865	31	6090											
LSR	51599	broad.mit.edu	37	19	35757281	35757281	+	Silent	SNP	A	A	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:35757281A>T	ENST00000361790.3	+	6	1101	c.942A>T	c.(940-942)gcA>gcT	p.A314A	LSR_ENST00000602122.1_Silent_p.A295A|LSR_ENST00000427250.1_Silent_p.A158A|USF2_ENST00000222305.3_5'Flank|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000360798.3_Silent_p.A246A|LSR_ENST00000347609.4_Silent_p.A277A|LSR_ENST00000354900.3_Silent_p.A295A|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000595068.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	314					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGGCAAAGCAGCCACCTCAG	0.617																																						uc002nyl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(940-942)gcA>gcT		Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.							89	89	89					19																	35757281		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757281A>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.942A>T	19.37:g.35757281A>T			Somatic				LSR_uc010xsr.2_Silent_p.A206A|LSR_uc002nym.3_Silent_p.A295A|LSR_uc002nyn.3_Silent_p.A246A|LSR_uc002nyo.3_Silent_p.A295A|LSR_uc002nyp.3_Silent_p.A277A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank	p.A314A	NM_205834	NP_991403	WXS	Illumina GAIIx	Phase_I	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	1165	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		314					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.942A>T	CCDS12450.1																																																																																				0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		7	202	0	0	0	1	0	7	202					T	35757281	A	T	35757281	2	4	356	1	0	0	0	0	0	0	0	1	9064	175	7	5		5	LSR	19	35757281	Silent	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08		35757281	23371702	32	6091											
ZNF611	81856	broad.mit.edu	37	19	53208567	53208567	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:53208567G>C	ENST00000319783.1	-	7	2057	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ZNF611_ENST00000453741.2_Missense_Mutation_p.L512V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L512V|ZNF611_ENST00000540744.1_Missense_Mutation_p.L581V|ZNF611_ENST00000543227.1_Missense_Mutation_p.L581V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L512V|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	581					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(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGGCATACAAGGTATGACCTG	0.438																																						uc002pzz.3																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1741-1743)Ctt>Gtt		Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.							262	238	246					19																	53208567		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208567G>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"Zinc fingers, C2H2-type", "-"	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1741C>G	19.37:g.53208567G>C	ENSP00000322427:p.Leu581Val		Somatic				ZNF611_uc010eqc.3_Missense_Mutation_p.L511V|ZNF611_uc010ydo.2_Missense_Mutation_p.L511V|ZNF611_uc010ydp.2_Missense_Mutation_p.L581V|ZNF611_uc010ydq.2_Missense_Mutation_p.L581V|ZNF611_uc010ydr.2_Missense_Mutation_p.L512V|ZNF611_uc002qaa.4_Missense_Mutation_p.L511V|ZNF611_uc021uyy.1_Missense_Mutation_p.L512V	p.L581V	NM_030972	NP_001154973	WXS	Illumina GAIIx	Phase_I	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2058	-			581					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1741C>G	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238397	0.22711	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	1.58	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63200	0.2491	M	0.83012	2.62	0.09310	N	1	D	0.69078	0.997	D	0.69654	0.965	T	0.53457	-0.8436	9	0.66056	D	0.02	.	5.6345	0.17528	0.4699:0.0:0.5301:0.0	.	581	Q8N823	ZN611_HUMAN	V	581;581;512;581	ENSP00000437616:L581V;ENSP00000439211:L581V;ENSP00000443505:L512V;ENSP00000322427:L581V	ENSP00000322427:L581V	L	-	1	0	ZNF611	57900379	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	0.385000	0.20685	-0.501000	0.06605	-0.643000	0.03959	CTT		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		19	399	0	0	0	1	0	19	399					C	53208567	G	C	53208567	3	2	356	1	0	0	0	0	1	0	0	0	18034	1000	35	4	380	4	ZNF611	19	53208567	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08	17451286	53208567	5920416	33	6092											
MAGEB3	4114	broad.mit.edu	37	X	30254993	30254993	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:30254993G>A	ENST00000361644.2	+	5	1689	c.952G>A	c.(952-954)Gtc>Atc	p.V318I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	318										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGAAGAAAGAGTCCAAGCTGC	0.502																																						uc004dca.2																			0		p.V318V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(952-954)Gtc>Atc		Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.							85	71	76					X																	30254993		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254993G>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.952G>A	X.37:g.30254993G>A	ENSP00000355198:p.Val318Ile		Somatic				MAGEB3_uc022bug.1_Missense_Mutation_p.V318I	p.V318I	NM_002365	NP_002356	WXS	Illumina GAIIx	Phase_I	O15480	MAGB3_HUMAN			4	1689	+			318					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.952G>A	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320572	0.23994	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.01665	4.7;4.7	4.01	1.47	0.22746	.	1.209690	0.06625	U	0.758179	T	0.02455	0.0075	L	0.47190	1.495	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	T	0.46331	-0.9199	10	0.87932	D	0	.	5.3521	0.16042	0.3695:0.0:0.6305:0.0	.	318	O15480	MAGB3_HUMAN	I	318	ENSP00000368271:V318I;ENSP00000355198:V318I	ENSP00000355198:V318I	V	+	1	0	MAGEB3	30164914	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.569000	0.05902	0.172000	0.19760	-0.192000	0.12808	GTC		0.502	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		3	40	0	0	0	1	0	3	40					A	30254993	G	A	30254993	3	1	356	1	0	0	0	0	1	0	0	0	9177	1029	36	2	954	2	MAGEB3	23	30254993	Missense_Mutation	SNP	G	TCGA-FK-A3SD-01A-11D-A22D-08		30254993	125015567	34	6093											
PAK3	5063	broad.mit.edu	37	X	110406220	110406220	+	Missense_Mutation	SNP	A	A	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:110406220A>T	ENST00000372010.1	+	10	1033	c.591A>T	c.(589-591)gaA>gaT	p.E197D	PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D|PAK3_ENST00000519681.1_Missense_Mutation_p.E203D|PAK3_ENST00000372007.5_Missense_Mutation_p.E182D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E182D(1)|p.E218D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagaagatgaaAATG	0.403										TSP Lung(19;0.15)																												uc010npv.1																			2	Substitution - Missense(2)	p.E182D(1)|p.E218D(1)	endometrium(2)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(652-654)gaA>gaT		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.							156	136	143					X																	110406220		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	g.chrX:110406220A>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.591A>T	X.37:g.110406220A>T	ENSP00000361080:p.Glu197Asp	TSP Lung(19;0.15)	Somatic				PAK3_uc010npt.1_Missense_Mutation_p.E182D|PAK3_uc010npu.1_Missense_Mutation_p.E182D|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.E182D|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.E203D|PAK3_uc004epa.2_Missense_Mutation_p.E197D	p.E218D	NM_001128168	NP_001121640	WXS	Illumina GAIIx	Phase_I	O75914	PAK3_HUMAN			6	681	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.654A>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807573	0.31961	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.71;-0.71;-0.69;-0.7;-0.7;-0.71;-0.71	5.95	3.63	0.41609	.	0.063753	0.64402	D	0.000011	T	0.40272	0.1110	N	0.05441	-0.05	0.36081	D	0.842782	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.40590	-0.9555	10	0.06365	T	0.9	.	4.7506	0.13059	0.7052:0.0:0.1397:0.155	.	203;218;197;182	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	182;182;197;203;182;218;218;203;197	ENSP00000410853:E182D;ENSP00000401982:E182D;ENSP00000361080:E197D;ENSP00000429113:E203D;ENSP00000361077:E182D;ENSP00000428921:E218D;ENSP00000353864:E218D;ENSP00000389172:E203D;ENSP00000262836:E197D	ENSP00000262836:E197D	E	+	3	2	PAK3	110292876	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.057000	0.30492	1.999000	0.58509	0.486000	0.48141	GAA		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		4	117	0	0	0	1	0	4	117					T	110406220	A	T	110406220	3	4	356	1	0	0	0	0	1	0	0	0	11402	69	3	5	680	5	PAK3	23	110406220	Missense_Mutation	SNP	A	TCGA-FK-A3SD-01A-11D-A22D-08	80151227	110406220	44864340	35	6094											
NCL	4691	broad.mit.edu	37	2	232326634	232326634	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:232326634G>A	ENST00000322723.4	-	3	470	c.230C>T	c.(229-231)cCa>cTa	p.P77L	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	77	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTCTTGGCTGGTGTGGCAAC	0.512																																						uc002vru.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(229-231)cCa>cTa		Homo sapiens nucleolin (NCL), mRNA.							186	181	183					2																	232326634		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding	g.chr2:232326634G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.230C>T	2.37:g.232326634G>A	ENSP00000318195:p.Pro77Leu		Somatic				SNORD82_uc010fxw.1_5'Flank	p.P77L	NM_005381	NP_005372	WXS	Illumina GAIIx	Phase_I	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	2	371	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	77			8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.230C>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846316	0.71603	.	.	ENSG00000115053	ENST00000322723;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.37	5.37	0.77165	.	0.115688	0.64402	D	0.000014	T	0.40595	0.1123	L	0.55990	1.75	0.80722	D	1	D	0.55605	0.972	P	0.48304	0.573	T	0.35450	-0.9788	10	0.87932	D	0	-15.3601	18.1506	0.89672	0.0:0.0:1.0:0.0	.	77	P19338	NUCL_HUMAN	L	77;77;61;61;61;61	ENSP00000318195:P77L;ENSP00000401620:P61L;ENSP00000392747:P61L;ENSP00000413775:P61L;ENSP00000401322:P61L	ENSP00000318195:P77L	P	-	2	0	NCL	232034878	1.000000	0.71417	0.950000	0.38849	0.833000	0.47200	7.237000	0.78164	2.528000	0.85240	0.650000	0.86243	CCA		0.512	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		4	190	0	0	0	1	0	4	190					A	232326634	G	A	232326634	3	1	357	1	0	0	0	0	1	0	0	0	10226	1348	47	2	1950	2	NCL	2	232326634	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		232326634	10872739	1	6095											
LRRFIP1	9208	broad.mit.edu	37	2	238667405	238667405	+	Intron	SNP	G	G	T			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:238667405G>T	ENST00000392000.4	+	10	864				LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.V420L	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTTTGATTCCGTAAGGAGTGA	0.383																																						uc002vxc.3																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1258-1260)Gta>Tta		Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 1, mRNA.							147	138	141					2																	238667405		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238667405G>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.748-1302G>T	2.37:g.238667405G>T			Somatic				LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxe.3_Intron|LRRFIP1_uc002vxd.3_Intron|LRRFIP1_uc002vxf.3_Intron	p.V420L	NM_001137550	NP_001131022	WXS	Illumina GAIIx	Phase_I	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	17	1322	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	288					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1258G>T	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629073	0.14257	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.26223	1.75	5.73	-6.45	0.01914	.	.	.	.	.	T	0.10294	0.0252	N	0.11313	0.125	0.80722	D	1	B	0.24675	0.109	B	0.30316	0.114	T	0.39396	-0.9616	9	0.02654	T	1	.	12.504	0.55972	0.32:0.1056:0.5745:0.0	.	420	E9PGZ2	.	L	420;410	ENSP00000310109:V420L	ENSP00000310109:V420L	V	+	1	0	LRRFIP1	238332144	0.994000	0.37717	0.841000	0.33234	0.993000	0.82548	0.601000	0.24119	-1.121000	0.02949	-0.302000	0.09304	GTA		0.383	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		48	66	0	0	0	1	0	48	66					T	238667405	G	T	238667405	1	4	357	0	1	0	0	0	0	0	0	0	9027	1145	40	4		4	LRRFIP1	2	238667405	Intron	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	6340771	238667405	4531968	2	6096											
CCDC39	339829	broad.mit.edu	37	3	180370001	180370001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr3:180370001delC	ENST00000442201.2	-	8	1103	c.984delG	c.(982-984)ctgfs	p.L328fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.L412fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	328					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TATTTTTCCTCAGAGCTTCTA	0.274																																						uc010hxe.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(982-984)ctgfs		Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.							30	28	28					3																	180370001		1729	3892	5621	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180370001delC	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.984delG	3.37:g.180370001delC	ENSP00000405708:p.Leu328fs		Somatic				CCDC39_uc003fkn.3_Non-coding_Transcript	p.L328fs	NM_181426	NP_852091	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	1099	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		328					B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.984delG	CCDS46964.1																																																																																				0.274	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		2	4						2	4	---	---	---	---	-	180370001	C	-	180370001	7	5	357	1	0	1	0	1	0	0	0	0	2811	813	29	0	1893	0	CCDC39	3	180370001	Frame_Shift_Del	DEL	C	TCGA-FK-A3SE-01A-11D-A22D-08		180370001	17652429	3	6097											
TERT	7015	broad.mit.edu	37	5	1280418	1280418	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:1280418G>A	ENST00000310581.5	-	4	1862	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	TERT_ENST00000508104.2_Missense_Mutation_p.S602L|TERT_ENST00000334602.6_Missense_Mutation_p.S602L|TERT_ENST00000296820.5_Missense_Mutation_p.S602L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	602					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTCTGCTTCCGACAGCTCCCG	0.632									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1804-1806)tCg>tTg		Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.							56	53	54					5																	1280418		2203	4300	6503	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280418G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1805C>T	5.37:g.1280418G>A	ENSP00000309572:p.Ser602Leu		Somatic				TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.S602L|TERT_uc003jca.1_Missense_Mutation_p.S602L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.S54L	p.S602L	NM_198253	NP_937983	WXS	Illumina GAIIx	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1863	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		602					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1805C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614482	0.46631	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.97114	-4.25;-4.19;-4.14;-4.19	4.48	4.48	0.54585	.	0.123713	0.56097	D	0.000039	D	0.98124	0.9381	M	0.80183	2.485	0.33997	D	0.649852	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.69479	0.928;0.964;0.849	D	0.99971	1.2000	10	0.66056	D	0.02	-2.4207	14.0835	0.64939	0.0:0.0:1.0:0.0	.	602;602;602	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	L	602	ENSP00000309572:S602L;ENSP00000296820:S602L;ENSP00000334346:S602L;ENSP00000426042:S602L	ENSP00000296820:S602L	S	-	2	0	TERT	1333418	0.772000	0.28567	0.185000	0.23176	0.093000	0.18481	5.177000	0.65032	2.038000	0.60285	0.407000	0.27541	TCG		0.632	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	82	0	0	0	1	0	5	82					A	1280418	G	A	1280418	3	1	357	1	0	0	0	0	1	0	0	0	15761	1059	37	1	1645	1	TERT	5	1280418	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		1280418	179634842	4	6098											
ZCCHC10	54819	broad.mit.edu	37	5	132334494	132334494	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:132334494G>A	ENST00000509437.1	-	5	367	c.360C>T	c.(358-360)gcC>gcT	p.A120A	ZCCHC10_ENST00000355372.2_Silent_p.A114A|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Silent_p.A98A|ZCCHC10_ENST00000513848.1_Silent_p.A84A|ZCCHC10_ENST00000509008.1_3'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	120	Ser-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAATCACTGGCAGAACTGT	0.438																																						uc003kyh.3																			0				skin(1)	1						c.(358-360)gcC>gcT		Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.							143	133	136					5																	132334494		2203	4300	6503	SO:0001819	synonymous_variant	54819						nucleic acid binding|zinc ion binding	g.chr5:132334494G>A	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"Zinc fingers, CCHC domain containing"	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.360C>T	5.37:g.132334494G>A			Somatic				ZCCHC10_uc003kyg.3_Silent_p.A98A|ZCCHC10_uc011cxl.2_Silent_p.A84A	p.A120A	NM_017665	NP_060135	WXS	Illumina GAIIx	Phase_I	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	371	-			120			Ser-rich.		Q9NXR4	Silent	SNP	ENST00000509437.1	37	c.360C>T																																																																																					0.438	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		48	69	0	0	0	1	0	48	69					A	132334494	G	A	132334494	2	1	357	1	0	0	0	0	0	0	0	1	17576	1335	47	2		2	ZCCHC10	5	132334494	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	131054076	132334494	48580766	5	6099											
C9orf69	90120	broad.mit.edu	37	9	139008660	139008660	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr9:139008660G>A	ENST00000418388.1	-	2	589	c.87C>T	c.(85-87)cgC>cgT	p.R29R	C9orf69_ENST00000561457.1_Missense_Mutation_p.A54V			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	29					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GGTGGGAGGCGCGCACGGGCC	0.667																																						uc004cgx.4																			0				endometrium(1)	1						c.(160-162)gCg>gTg		Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA.							35	43	40					9																	139008660		1966	4128	6094	SO:0001819	synonymous_variant	90120							g.chr9:139008660G>A		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.87C>T	9.37:g.139008660G>A			Somatic				C9orf69_uc004cgy.2_Non-coding_Transcript	p.A54V	NM_152833	NP_690046	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	1	612	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.161C>T	CCDS59155.1																																																																																				0.667	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		12	20	0	0	0	1	0	12	20					A	139008660	G	A	139008660	2	1	357	1	0	0	0	0	0	0	0	1	2492	1087	38	1		1	C9orf69	9	139008660	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		139008660	2204771	6	6100											
PPRC1	23082	broad.mit.edu	37	10	103898733	103898733	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr10:103898733G>A	ENST00000278070.2	+	4	626	c.587G>A	c.(586-588)aGt>aAt	p.S196N	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.S196N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTAGAGGGAGTGGGGTAAGC	0.557																																						uc001kum.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(586-588)aGt>aAt		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.							57	63	61					10																	103898733		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding	g.chr10:103898733G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.587G>A	10.37:g.103898733G>A	ENSP00000278070:p.Ser196Asn		Somatic				PPRC1_uc001kun.3_Missense_Mutation_p.S76N|PPRC1_uc010qqj.2_Missense_Mutation_p.S196N|PPRC1_uc009xxa.3_5'Flank	p.S196N	NM_015062	NP_055877	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	3	626	+		Colorectal(252;0.122)	196					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.587G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119789	0.37436	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.59364	0.27;0.27	4.5	0.519	0.17035	.	0.449943	0.22173	N	0.063604	T	0.33381	0.0861	N	0.19112	0.55	0.25122	N	0.990637	B;B;B	0.11235	0.003;0.004;0.001	B;B;B	0.11329	0.003;0.006;0.004	T	0.17198	-1.0377	10	0.59425	D	0.04	.	1.0618	0.01602	0.2692:0.1543:0.4179:0.1585	.	196;76;196	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	196	ENSP00000278070:S196N;ENSP00000399743:S196N	ENSP00000278070:S196N	S	+	2	0	PPRC1	103888723	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.681000	0.25320	0.011000	0.14865	0.561000	0.74099	AGT		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		3	86	0	0	0	1	0	3	86					A	103898733	G	A	103898733	3	1	357	1	0	0	0	0	1	0	0	0	12410	1029	36	2	601	2	PPRC1	10	103898733	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		103898733	31636014	7	6101											
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						uc001lsd.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.							98	95	96					11																	864455		2203	4299	6502	SO:0001583	missense	7106				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"Tetraspanins"	11859	protein-coding gene	gene with protein product		602644	"transmembrane 4 superfamily member 7"	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val		Somatic				TSPAN4_uc001lse.1_Missense_Mutation_p.L28V|TSPAN4_uc001lsf.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsg.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsh.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsi.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsj.1_Missense_Mutation_p.L92V	p.L92V	NM_003271	NP_001020410	WXS	Illumina GAIIx	Phase_I	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	483	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			3	198	0	0	0	1	0	3	198					G	864455	C	G	864455	3	3	357	1	0	0	0	0	1	0	0	0	16646	796	28	4	284	4	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		864455	134142061	8	6102											
AMHR2	269	broad.mit.edu	37	12	53819001	53819001	+	Silent	SNP	G	G	C			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr12:53819001G>C	ENST00000257863.4	+	4	557	c.477G>C	c.(475-477)ctG>ctC	p.L159L	AMHR2_ENST00000550311.1_Silent_p.L159L|AMHR2_ENST00000379791.3_Silent_p.L159L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	159					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTCCTCCTGCTGCTGCTGG	0.587																																						uc001scx.2																			0		p.L158L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(475-477)ctG>ctC		Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						183	141	155					12																	53819001		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819001G>C	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.477G>C	12.37:g.53819001G>C			Somatic				AMHR2_uc009zmy.2_Silent_p.L159L|AMHR2_uc021qyg.1_Silent_p.L159L	p.L159L	NM_020547	NP_065434	WXS	Illumina GAIIx	Phase_I	Q16671	AMHR2_HUMAN			3	557	+			159					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.477G>C	CCDS8858.1																																																																																				0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		3	169	0	0	0	1	0	3	169					C	53819001	G	C	53819001	2	2	357	1	0	0	0	0	0	0	0	1	573	1306	46	4		4	AMHR2	12	53819001	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		53819001	80032894	9	6103											
SLC12A4	6560	broad.mit.edu	37	16	67986272	67986272	+	Silent	SNP	C	C	T	rs372226074		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr16:67986272C>T	ENST00000316341.3	-	7	872	c.732G>A	c.(730-732)tcG>tcA	p.S244S	SLC12A4_ENST00000422611.2_Silent_p.S246S|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000576616.1_Silent_p.S244S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	244					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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453																																						uc010cew.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(496-498)cGa>cAa		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 5, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)	C	,,,,	1,4395	2.1+/-5.4	0,1,2197	185	171	176		732,738,714,639,732	-8.1	0.1	16		176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	,,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,,	244/1080,246/1088,238/1080,213/1055,244/1086	67986272	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986272C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.732G>A	16.37:g.67986272C>T			Somatic				SLC12A4_uc010ceu.2_Silent_p.S238S|SLC12A4_uc010vkh.1_Silent_p.S213S|SLC12A4_uc002euz.2_Silent_p.S244S|SLC12A4_uc010vki.1_Silent_p.S244S|SLC12A4_uc010vkj.1_Silent_p.S246S|SLC12A4_uc002eva.2_Silent_p.S244S|SLC12A4_uc002evb.2_Non-coding_Transcript	p.R166Q			WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	7	889	-		Ovarian(137;0.192)	0					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.497G>A	CCDS10855.1																																																																																				0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		48	85	0	0	0	1	0	48	85					T	67986272	C	T	67986272	2	4	357	1	0	0	0	0	0	0	0	1	14385	871	31	1		1	SLC12A4	16	67986272	Silent	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		67986272	22368481	10	6104											
CASKIN2	57513	broad.mit.edu	37	17	73498980	73498980	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr17:73498980G>A	ENST00000321617.3	-	18	2761	c.2175C>T	c.(2173-2175)agC>agT	p.S725S	CASKIN2_ENST00000433559.2_Silent_p.S643S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	725	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGGGGGGGCTGGGATCTC	0.647																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2173-2175)agC>agT		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.							19	21	20					17																	73498980		2164	4241	6405	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498980G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2175C>T	17.37:g.73498980G>A			Somatic				CASKIN2_uc010wsc.2_Silent_p.S643S	p.S725S	NM_020753	NP_001136115	WXS	Illumina GAIIx	Phase_I	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2725	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		725			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2175C>T	CCDS11723.1																																																																																				0.647	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	57	0	0	0	1	0	3	57					A	73498980	G	A	73498980	2	1	357	1	0	0	0	0	0	0	0	1	2667	1194	42	2		2	CASKIN2	17	73498980	Silent	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08		73498980	7696230	11	6105											
SLC1A6	6511	broad.mit.edu	37	19	15073100	15073100	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:15073100C>T	ENST00000221742.3	-	5	656	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	SLC1A6_ENST00000600144.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G217R|SLC1A6_ENST00000430939.2_Missense_Mutation_p.G153R|SLC1A6_ENST00000598504.1_Missense_Mutation_p.G217R	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	217					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGCTCAGACCCGTTCTCTGTC	0.552																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(649-651)Ggg>Agg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						125	116	119					19																	15073100		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073100C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.649G>A	19.37:g.15073100C>T	ENSP00000221742:p.Gly217Arg		Somatic				SLC1A6_uc010dzu.1_Missense_Mutation_p.G217R|SLC1A6_uc010xod.1_Missense_Mutation_p.G153R|SLC1A6_uc002nab.3_Missense_Mutation_p.G217R|SLC1A6_uc002nac.3_Missense_Mutation_p.G217R	p.G217R	NM_005071	NP_005062	WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			4	656	-			217					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.649G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	7.204	0.594043	0.13875	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.70869	-0.52;0.56;1.3	4.42	3.33	0.38152	.	0.365309	0.27797	N	0.017813	T	0.52533	0.1740	L	0.38175	1.15	0.20074	N	0.999932	B;B;B	0.15930	0.011;0.007;0.015	B;B;B	0.13407	0.008;0.004;0.009	T	0.17048	-1.0382	10	0.16420	T	0.52	-19.7986	5.2147	0.15336	0.0:0.7687:0.0:0.2313	.	153;217;217	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	R	153;217;217	ENSP00000409386:G153R;ENSP00000221742:G217R;ENSP00000446175:G217R	ENSP00000221742:G217R	G	-	1	0	SLC1A6	14934100	0.126000	0.22350	0.765000	0.31456	0.648000	0.38561	0.921000	0.28718	2.310000	0.77875	0.454000	0.30748	GGG		0.552	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		55	103	0	0	0	1	0	55	103					T	15073100	C	T	15073100	3	4	357	1	0	0	0	0	1	0	0	0	14436	652	23	1	1065	1	SLC1A6	19	15073100	Missense_Mutation	SNP	C	TCGA-FK-A3SE-01A-11D-A22D-08		15073100	44055883	12	6106											
C20orf144	128864	broad.mit.edu	37	20	32251496	32251497	+	In_Frame_Ins	INS	-	-	CTG			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:32251496_32251497insCTG	ENST00000375222.3	+	2	347_348	c.285_286insCTG	c.(286-288)ctg>CTGctg	p.96_96L>LL	NECAB3_ENST00000375238.4_Intron|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000606525.1_5'Flank|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	96										lung(1)	1						GGATGCCGGTACTGCTGCTGCT	0.748																																						uc002wzs.2																			0				lung(1)	1						c.(283-288)insCTG		Homo sapiens chromosome 20 open reading frame 144 (C20orf144), mRNA.			,,	9,2599		4,1,1299					,,	-5.1	0.0		dbSNP_134	4	8,5796		2,4,2896	no	coding,intron,intron	NECAB3,C20orf144	NM_080825.3,NM_031232.3,NM_031231.3	,,	6,5,4195	A1A1,A1R,RR		0.1378,0.3451,0.2021	,,	,,		17,8395				SO:0001652	inframe_insertion	128864							g.chr20:32251496_32251497insCTG	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"bcl-2-like protein from testis"					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.295_297dupCTG	20.37:g.32251503_32251505dupCTG	ENSP00000364370:p.Leu99dup		Somatic				NECAB3_uc002wzl.3_5'Flank|NECAB3_uc002wzm.4_Intron|NECAB3_uc002wzn.4_Intron|NECAB3_uc002wzo.4_Intron|ACTL10_uc002wzt.3_5'Flank	p.99_100insL	NM_080825	NP_543015	WXS	Illumina GAIIx	Phase_I	Q9BQM9	CT144_HUMAN			1	345_346	+			99					Q1AHR2	In_Frame_Ins	INS	ENST00000375222.3	37	c.285_286insCTG	CCDS13223.1																																																																																				0.748	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		6	6						6	6	---	---	---	---	CTG	32251497	-	CTG	32251496	7	5	357	1	0	1	1	0	0	0	0	0	2090	378	14	0	291	0	C20orf144	20	32251496	In_Frame_Ins	INS	-	TCGA-FK-A3SE-01A-11D-A22D-08		32251496	30774024	13	6107											
FITM2	128486	broad.mit.edu	37	20	42935521	42935521	+	Missense_Mutation	SNP	G	G	A	rs138125328		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:42935521G>A	ENST00000396825.3	-	2	553	c.533C>T	c.(532-534)aCg>aTg	p.T178M		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	178					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						GCTTCGGTCCGTCTTCACCTC	0.542																																						uc002xlr.1																			0				endometrium(2)|lung(2)|skin(2)	6						c.(532-534)aCg>aTg		Homo sapiens fat storage-inducing transmembrane protein 2 (FITM2), mRNA.		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	100	78	86		533	2.1	1.0	20	dbSNP_134	86	0,8600		0,0,4300	no	missense	FITM2	NM_001080472.1	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	178/263	42935521	3,13003	2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935521G>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"fat inducing transcript 2"	612029	"chromosome 20 open reading frame 142"	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.533C>T	20.37:g.42935521G>A	ENSP00000380037:p.Thr178Met		Somatic					p.T178M	NM_001080472	NP_001073941	WXS	Illumina GAIIx	Phase_I	Q8N6M3	FITM2_HUMAN			1	634	-			178					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.533C>T	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324080	0.24080	6.81E-4	0.0	ENSG00000197296	ENST00000396825	.	.	.	5.57	2.07	0.26955	.	0.448802	0.25872	N	0.027753	T	0.27765	0.0683	N	0.17474	0.49	0.31861	N	0.620962	B	0.16166	0.016	B	0.11329	0.006	T	0.19451	-1.0305	9	0.34782	T	0.22	.	8.2401	0.31654	0.1967:0.0:0.6726:0.1308	.	178	Q8N6M3	FITM2_HUMAN	M	178	.	ENSP00000380037:T178M	T	-	2	0	FITM2	42368935	0.880000	0.30214	0.993000	0.49108	0.797000	0.45037	2.159000	0.42339	0.696000	0.31696	0.563000	0.77884	ACG		0.542	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		3	78	0	0	0	1	0	3	78					A	42935521	G	A	42935521	3	1	357	1	0	0	0	0	1	0	0	0	5899	1145	40	1	259	1	FITM2	20	42935521	Missense_Mutation	SNP	G	TCGA-FK-A3SE-01A-11D-A22D-08	10684025	42935521	20089999	14	6108											
KIF1B	23095	broad.mit.edu	37	1	10394681	10394681	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:10394681G>A	ENST00000377086.1	+	28	3230	c.3028G>A	c.(3028-3030)Gta>Ata	p.V1010I	KIF1B_ENST00000263934.6_Missense_Mutation_p.V964I|KIF1B_ENST00000377081.1_Missense_Mutation_p.V1010I			O60333	KIF1B_HUMAN	kinesin family member 1B	1010					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTGTGGCTGTACAGGCCAT	0.517																																						uc001aqz.3																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3028-3030)Gta>Ata		Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.							158	141	147					1																	10394681		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10394681G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3028G>A	1.37:g.10394681G>A	ENSP00000366290:p.Val1010Ile		Somatic				KIF1B_uc001aqw.4_Missense_Mutation_p.V964I|KIF1B_uc001aqx.4_Missense_Mutation_p.V1010I|KIF1B_uc001aqy.3_Missense_Mutation_p.V984I|KIF1B_uc001ara.3_Missense_Mutation_p.V970I|KIF1B_uc001arb.3_Missense_Mutation_p.V996I	p.V1010I	NM_015074	NP_055889	WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	26	3107	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1010					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3028G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.390282	0.82902	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.77877	-1.13;-1.13;-1.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	N	0.24115	0.695	0.80722	D	1	P;P;D;D;P;P	0.67145	0.897;0.849;0.996;0.992;0.56;0.902	P;B;D;D;B;D	0.77557	0.471;0.215;0.99;0.989;0.158;0.927	T	0.77107	-0.2710	10	0.23302	T	0.38	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	996;970;1010;984;1010;964	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	I	1010;964;1010;1010	ENSP00000263934:V964I;ENSP00000366290:V1010I;ENSP00000366284:V1010I	ENSP00000263934:V964I	V	+	1	0	KIF1B	10317268	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.923000	0.87546	2.854000	0.98071	0.655000	0.94253	GTA		0.517	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			4	91	0	0	0	1	0	4	91					A	10394681	G	A	10394681	3	1	358	1	0	0	0	0	1	0	0	0	8284	1377	48	2	4477	2	KIF1B	1	10394681	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		10394681	238855940	1	6109											
NEXN	91624	broad.mit.edu	37	1	78383724	78383724	+	Splice_Site	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:78383724G>A	ENST00000334785.7	+	4	482		c.e4+1		NEXN_ENST00000294624.8_Splice_Site|NEXN_ENST00000457030.1_Splice_Site|NEXN_ENST00000330010.8_Splice_Site	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAACAGGTAAGAAGCTT	0.284																																						uc001dic.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.e4+1		Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.							102	103	103					1																	78383724		1803	4066	5869	SO:0001630	splice_region_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle	g.chr1:78383724G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.298+1G>A	1.37:g.78383724G>A			Somatic				NEXN_uc001dia.3_Splice_Site_p.G100_splice|NEXN_uc009wcb.1_Splice_Site_p.G36_splice|NEXN_uc001dib.4_Splice_Site_p.G36_splice|NEXN_uc001did.1_Splice_Site_p.G24_splice|NEXN_uc001dif.1_5'Flank	p.G100_splice	NM_144573	NP_653174	WXS	Illumina GAIIx	Phase_I	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	4	595	+			100	YVPKLTGT -> NLPFTVP (in Ref. 3; AAD29607).		Glu-rich.			Splice_Site	SNP	ENST00000334785.7	37	c.298_splice	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709712	0.68730	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEXN	78156312	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.006000	0.93592	2.878000	0.98634	0.650000	0.86243	.		0.284	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	Intron	3	64	0	0	0	1	0	3	64					A	78383724	G	A	78383724	5	1	358	1	0	0	0	0	0	0	1	0	10355	1275	44	2	309	2	NEXN	1	78383724	Splice_Site	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08	67989043	78383724	170866897	2	6110											
HPCAL1	3241	broad.mit.edu	37	2	10560174	10560174	+	Silent	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr2:10560174G>A	ENST00000381765.3	+	4	817	c.291G>A	c.(289-291)ctG>ctA	p.L97L	HPCAL1_ENST00000307845.3_Silent_p.L97L	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	97	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGGGCAAGCTGGAGCAGAAGC	0.637																																					Pancreas(70;1384 1800 31595 46836)	uc002raj.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9						c.(289-291)ctG>ctA		Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.							83	73	77					2																	10560174		2203	4300	6503	SO:0001819	synonymous_variant	3241						calcium ion binding	g.chr2:10560174G>A		CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"EF-hand domain containing"	5145	protein-coding gene	gene with protein product	"visinin-like protein 3", "calcium-binding protein BDR-1"	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.291G>A	2.37:g.10560174G>A			Somatic				HPCAL1_uc002ral.3_Silent_p.L97L|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.L97L	p.L97L	NM_002149	NP_602293	WXS	Illumina GAIIx	Phase_I	P37235	HPCL1_HUMAN		Epithelial(75;0.214)	2	665	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		97			EF-hand 3.		Q969S5	Silent	SNP	ENST00000381765.3	37	c.291G>A	CCDS1671.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402629	0.25291	.	.	ENSG00000115756	ENST00000422133	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	T	0.71247	0.3317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70605	-0.4826	4	.	.	.	.	15.352	0.74396	0.0:0.1396:0.8604:0.0	.	.	.	.	R	10	.	.	G	+	1	0	HPCAL1	10477625	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.153000	0.42282	2.282000	0.76494	0.561000	0.74099	GGA		0.637	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149		3	78	0	0	0	1	0	3	78					A	10560174	G	A	10560174	2	1	358	1	0	0	0	0	0	0	0	1	7330	1335	47	2		2	HPCAL1	2	10560174	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		10560174	232639199	3	6111											
SRP72	6731	broad.mit.edu	37	4	57340448	57340448	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr4:57340448G>C	ENST00000342756.5	+	5	1222	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SRP72_ENST00000510663.1_Missense_Mutation_p.E167D|SRP72_ENST00000504757.1_Missense_Mutation_p.E167D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	167					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTGACAGGAGAACCTGGGCC	0.448																																						uc003hbv.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(499-501)gaG>gaC		Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.							105	108	107					4																	57340448		2203	4300	6503	SO:0001583	missense	6731				SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340448G>C	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.501G>C	4.37:g.57340448G>C	ENSP00000342181:p.Glu167Asp		Somatic				SRP72_uc010ihe.3_Missense_Mutation_p.E167D	p.E167D	NM_006947	NP_008878	WXS	Illumina GAIIx	Phase_I	O76094	SRP72_HUMAN			4	541	+	Glioma(25;0.08)|all_neural(26;0.101)		167					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.501G>C	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168690	0.57584	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.39592	1.07;1.07	5.52	2.35	0.29111	Tetratricopeptide-like helical (1);	0.091290	0.64402	N	0.000001	T	0.30293	0.0760	L	0.54863	1.705	0.47009	D	0.999289	B;B	0.32693	0.164;0.38	B;B	0.29176	0.099;0.091	T	0.04752	-1.0929	10	0.25751	T	0.34	.	5.2527	0.15531	0.2278:0.1751:0.5971:0.0	.	167;167	G5E9Z8;O76094	.;SRP72_HUMAN	D	167;173;167	ENSP00000342181:E167D;ENSP00000424576:E167D	ENSP00000342181:E167D	E	+	3	2	SRP72	57035205	0.996000	0.38824	1.000000	0.80357	0.749000	0.42624	0.417000	0.21214	0.666000	0.31087	0.650000	0.86243	GAG		0.448	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			6	187	0	0	0	1	0	6	187					C	57340448	G	C	57340448	3	2	358	1	0	0	0	0	1	0	0	0	15156	933	33	4	519	4	SRP72	4	57340448	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		57340448	133813828	4	6112											
BDP1	55814	broad.mit.edu	37	5	70858315	70858315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr5:70858315C>T	ENST00000358731.4	+	38	7974	c.7711C>T	c.(7711-7713)Caa>Taa	p.Q2571*	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2571					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATTACTACTCAATCTGAGAA	0.348																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7711-7713)Caa>Taa		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							94	86	89					5																	70858315		1840	4095	5935	SO:0001587	stop_gained	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70858315C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7711C>T	5.37:g.70858315C>T	ENSP00000351575:p.Gln2571*		Somatic				BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	p.Q2571*	NM_018429	NP_060899	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	37	7974	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2571					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	ENST00000358731.4	37	c.7711C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535433	0.64972	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	.	.	.	5.87	2.95	0.34219	.	0.842486	0.10330	N	0.687725	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.7035	0.62624	0.0:0.448:0.552:0.0	.	.	.	.	X	2571;2119	.	ENSP00000351575:Q2571X	Q	+	1	0	BDP1	70894071	0.000000	0.05858	0.007000	0.13788	0.122000	0.20287	0.324000	0.19610	0.753000	0.32945	0.650000	0.86243	CAA		0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		17	82	0	0	0	1	0	17	82					T	70858315	C	T	70858315	4	4	358	1	0	0	0	0	0	1	0	0	1395	827	29	2	7861	2	BDP1	5	70858315	Nonsense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		70858315	110056945	5	6113											
SMPD2	6610	broad.mit.edu	37	6	109763769	109763769	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr6:109763769G>C	ENST00000258052.3	+	6	791	c.432G>C	c.(430-432)caG>caC	p.Q144H	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	144					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACAATCGACAGAAGGACATCT	0.522																																						uc003pti.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(430-432)caG>caC		Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.							169	146	154					6																	109763769		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763769G>C	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.432G>C	6.37:g.109763769G>C	ENSP00000258052:p.Gln144His		Somatic				PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	p.Q144H	NM_003080	NP_003071	WXS	Illumina GAIIx	Phase_I	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	5	826	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	144					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.432G>C	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.288948	0.23478	.	.	ENSG00000135587	ENST00000258052	T	0.80480	-1.38	5.43	0.924	0.19418	Endonuclease/exonuclease/phosphatase (2);	0.326365	0.35739	N	0.003012	T	0.41743	0.1172	N	0.20986	0.625	0.19575	N	0.999966	B	0.02656	0.0	B	0.06405	0.002	T	0.33929	-0.9849	10	0.44086	T	0.13	-4.2124	2.8213	0.05472	0.3595:0.0:0.4413:0.1992	.	144	O60906	NSMA_HUMAN	H	144	ENSP00000258052:Q144H	ENSP00000258052:Q144H	Q	+	3	2	SMPD2	109870462	0.998000	0.40836	0.991000	0.47740	0.211000	0.24417	0.264000	0.18497	0.243000	0.21327	-1.069000	0.02264	CAG		0.522	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			4	176	0	0	0	1	0	4	176					C	109763769	G	C	109763769	3	2	358	1	0	0	0	0	1	0	0	0	14805	933	33	4	454	4	SMPD2	6	109763769	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		109763769	61351298	6	6114											
PRSS55	203074	broad.mit.edu	37	8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr8:10390524C>T	ENST00000328655.3	+	4	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	PRSS55_ENST00000522210.1_Missense_Mutation_p.A236V|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483																																						uc003wta.3																			0		p.C235G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(706-708)gCc>gTc		Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.							121	104	110					8																	10390524		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10390524C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.707C>T	8.37:g.10390524C>T	ENSP00000333003:p.Ala236Val		Somatic				AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.A236V|PRSS55_uc003wtb.3_Non-coding_Transcript	p.A236V	NM_198464	NP_940866	WXS	Illumina GAIIx	Phase_I	Q6UWB4	PRS55_HUMAN			3	747	+			236			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.707C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733040	0.48939	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.94966	-3.57;-3.57	5.42	5.42	0.78866	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34725	N	0.003736	D	0.95007	0.8384	L	0.53617	1.68	0.43863	D	0.996461	D	0.52996	0.957	P	0.54431	0.752	D	0.94760	0.7935	10	0.54805	T	0.06	.	15.0703	0.72030	0.0:1.0:0.0:0.0	.	236	Q6UWB4	PRS55_HUMAN	V	236	ENSP00000333003:A236V;ENSP00000430459:A236V	ENSP00000333003:A236V	A	+	2	0	PRSS55	10427934	0.973000	0.33851	0.966000	0.40874	0.052000	0.14988	2.472000	0.45136	2.694000	0.91930	0.591000	0.81541	GCC		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		3	76	0	0	0	1	0	3	76					T	10390524	C	T	10390524	3	4	358	1	0	0	0	0	1	0	0	0	12634	739	26	2	721	2	PRSS55	8	10390524	Missense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		10390524	135973498	7	6115											
MARCH8	220972	broad.mit.edu	37	10	45954618	45954618	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:45954618T>C	ENST00000319836.3	-	6	1270	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	MARCH8_ENST00000395769.2_Missense_Mutation_p.Y174C|MARCH8_ENST00000395771.3_Missense_Mutation_p.Y174C|MARCH8_ENST00000453424.2_Missense_Mutation_p.Y456C|MARCH8_ENST00000476962.1_5'UTR	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	174					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AATGAGCACATACAAGGACCA	0.552																																					NSCLC(102;658 1594 2173 16344 34808)	uc001jch.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1366-1368)tAt>tGt		Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.							192	147	162					10																	45954618		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45954618T>C	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.521A>G	10.37:g.45954618T>C	ENSP00000317087:p.Tyr174Cys		Somatic				MARCH8_uc001jci.1_Missense_Mutation_p.Y174C|MARCH8_uc001jcj.1_Missense_Mutation_p.Y174C|MARCH8_uc001jck.1_Missense_Mutation_p.Y174C|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Missense_Mutation_p.Y43C	p.Y456C	NM_001002266	NP_659458	WXS	Illumina GAIIx	Phase_I	Q5T0T0	MARH8_HUMAN			6	1606	-			174					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1367A>G	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281325	0.80692	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.14144	2.53;2.53;2.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.44542	1.39	0.80722	D	1	P;B	0.39391	0.671;0.249	B;B	0.39531	0.302;0.23	T	0.01748	-1.1282	10	0.45353	T	0.12	-13.8863	13.9558	0.64147	0.0:0.0:0.0:1.0	.	174;338	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	C	174	ENSP00000379118:Y174C;ENSP00000317087:Y174C;ENSP00000379116:Y174C	ENSP00000317087:Y174C	Y	-	2	0	MARCH8	45274624	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	8.040000	0.89188	2.184000	0.69523	0.533000	0.62120	TAT		0.552	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		11	172	0	0	0	1	0	11	172					C	45954618	T	C	45954618	3	2	358	1	0	0	0	0	1	0	0	0	9307	1406	49	3	362	3	MARCH8	10	45954618	Missense_Mutation	SNP	T	TCGA-FK-A3SG-01A-11D-A22D-08		45954618	89580129	8	6116											
WDR11	55717	broad.mit.edu	37	10	122619684	122619684	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:122619684A>G	ENST00000263461.6	+	4	662	c.416A>G	c.(415-417)aAt>aGt	p.N139S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	293					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|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 import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CACCCGCCAAATTACATTGTG	0.428																																						uc021pzt.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(415-417)aAt>aGt		Homo sapiens WD repeat domain 11 (WDR11), mRNA.							139	120	126					10																	122619684		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619684A>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.416A>G	10.37:g.122619684A>G	ENSP00000263461:p.Asn139Ser		Somatic				WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	p.N139S	NM_018117	NP_060587	WXS	Illumina GAIIx	Phase_I	Q9BZH6	WDR11_HUMAN			3	662	+			139					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.416A>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703712	0.30232	.	.	ENSG00000120008	ENST00000263461	T	0.28454	1.61	5.48	4.35	0.52113	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.140827	0.64402	D	0.000007	T	0.15869	0.0382	N	0.15975	0.35	0.53005	D	0.999962	B	0.29766	0.256	B	0.25614	0.062	T	0.06826	-1.0805	10	0.13470	T	0.59	-15.7456	10.9634	0.47397	0.9272:0.0:0.0728:0.0	.	139	Q9BZH6	WDR11_HUMAN	S	139	ENSP00000263461:N139S	ENSP00000263461:N139S	N	+	2	0	WDR11	122609674	1.000000	0.71417	0.952000	0.39060	0.721000	0.41392	6.171000	0.71926	0.939000	0.37446	0.482000	0.46254	AAT		0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			4	85	0	0	0	1	0	4	85					G	122619684	A	G	122619684	3	3	358	1	0	0	0	0	1	0	0	0	17270	101	4	3	430	3	WDR11	10	122619684	Missense_Mutation	SNP	A	TCGA-FK-A3SG-01A-11D-A22D-08	76665066	122619684	12915063	9	6117											
CD6	923	broad.mit.edu	37	11	60777117	60777117	+	Silent	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:60777117C>T	ENST00000313421.7	+	5	1041	c.855C>T	c.(853-855)gtC>gtT	p.V285V	CD6_ENST00000344028.5_Silent_p.V285V|CD6_ENST00000352009.5_Silent_p.V285V|CD6_ENST00000452451.2_Silent_p.V285V|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Silent_p.V285V	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	285	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCGAGGGGTCTGGAACACAG	0.652																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(853-855)gtC>gtT		Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.							80	66	70					11																	60777117		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60777117C>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.855C>T	11.37:g.60777117C>T			Somatic				CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Silent_p.V285V|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.V285V|CD6_uc001nqt.3_Silent_p.V285V	p.V285V	NM_006725	NP_006716	WXS	Illumina GAIIx	Phase_I	P30203	CD6_HUMAN			4	1080	+			285			SRCR 3.		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.855C>T	CCDS7999.1																																																																																				0.652	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		8	71	0	0	0	1	0	8	71					T	60777117	C	T	60777117	2	4	358	1	0	0	0	0	0	0	0	1	3028	900	32	2		2	CD6	11	60777117	Silent	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		60777117	74229399	10	6118											
MARK2	2011	broad.mit.edu	37	11	63668346	63668346	+	Missense_Mutation	SNP	G	G	A	rs146234903		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:63668346G>A	ENST00000509502.2	+	10	1347	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	MARK2_ENST00000408948.3_Missense_Mutation_p.R295Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R295Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R328Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R295Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R328Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R328Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R328Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R328Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R328Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R328Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R328Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R295Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCCCCGGCGGACAGGTGAG	0.547																																						uc001nxw.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(982-984)cGg>cAg		Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	96	98	97		983,983,983,983,884	5.0	1.0	11	dbSNP_134	97	1,8593		0,1,4296	no	missense,missense,missense,missense,missense	MARK2	NM_001039469.2,NM_001163296.1,NM_001163297.1,NM_004954.4,NM_017490.3	43,43,43,43,43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	328/789,328/720,328/710,328/725,295/746	63668346	1,12995	2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668346G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.884G>A	11.37:g.63668346G>A	ENSP00000423974:p.Arg295Gln		Somatic				MARK2_uc001nxv.4_Missense_Mutation_p.R328Q|MARK2_uc001nxx.3_Missense_Mutation_p.R328Q|MARK2_uc001nxy.3_Missense_Mutation_p.R328Q|MARK2_uc001nxz.4_Missense_Mutation_p.R295Q|MARK2_uc009yoy.3_Missense_Mutation_p.R295Q	p.R328Q	NM_001039469	NP_001034558	WXS	Illumina GAIIx	Phase_I	Q7KZI7	MARK2_HUMAN			9	1562	+			328			UBA.			Missense_Mutation	SNP	ENST00000509502.2	37	c.983G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909184	0.92107	0.0	1.16E-4	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.0	5.0	0.66597	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Protein kinase-like domain (1);	0.114968	0.56097	N	0.000034	T	0.61286	0.2335	M	0.87900	2.915	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;P;D;D	0.72982	0.921;0.979;0.947;0.668;0.916;0.979	T	0.66956	-0.5792	10	0.54805	T	0.06	.	17.2269	0.86973	0.0:0.0:1.0:0.0	.	295;295;328;328;328;328	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	328;328;328;328;295;328;328;328;328;295;295;295;295	ENSP00000385751:R328Q;ENSP00000326632:R328Q;ENSP00000367040:R328Q;ENSP00000389184:R328Q;ENSP00000367041:R295Q;ENSP00000425765:R328Q;ENSP00000355091:R328Q;ENSP00000294247:R328Q;ENSP00000423974:R295Q;ENSP00000421075:R295Q;ENSP00000386128:R295Q;ENSP00000415494:R295Q	ENSP00000326632:R328Q	R	+	2	0	MARK2	63424922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.561000	0.73955	2.583000	0.87209	0.557000	0.71058	CGG		0.547	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		4	188	0	0	0	1	0	4	188					A	63668346	G	A	63668346	3	1	358	1	0	0	0	0	1	0	0	0	9313	1116	39	1	1021	1	MARK2	11	63668346	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08	2891229	63668346	71338170	11	6119											
IGDCC4	57722	broad.mit.edu	37	15	65676658	65676658	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr15:65676658G>A	ENST00000352385.2	-	20	3651	c.3442C>T	c.(3442-3444)Ctc>Ttc	p.L1148F	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGATGGAGGTCAGGGTTC	0.607																																						uc002aou.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3442-3444)Ctc>Ttc		Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.							64	64	64					15																	65676658		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65676658G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3442C>T	15.37:g.65676658G>A	ENSP00000319623:p.Leu1148Phe		Somatic				IGDCC4_uc002aot.1_Missense_Mutation_p.L736F	p.L1148F	NM_020962	NP_066013	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			19	3652	-			1148					Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3442C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274414	0.40194	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.60040	0.22	5.19	4.27	0.50696	.	0.168166	0.28600	N	0.014779	T	0.42404	0.1201	L	0.32530	0.975	0.32629	N	0.522247	B	0.06786	0.001	B	0.04013	0.001	T	0.47156	-0.9139	10	0.30854	T	0.27	-24.5342	7.7318	0.28791	0.1897:0.0:0.8103:0.0	.	1148	Q8TDY8	IGDC4_HUMAN	F	1148;877	ENSP00000319623:L1148F	ENSP00000319623:L1148F	L	-	1	0	IGDCC4	63463711	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	1.560000	0.36331	1.187000	0.43000	0.561000	0.74099	CTC		0.607	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		3	69	0	0	0	1	0	3	69					A	65676658	G	A	65676658	3	1	358	1	0	0	0	0	1	0	0	0	7569	1000	35	2	314	2	IGDCC4	15	65676658	Missense_Mutation	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		65676658	36854734	12	6120											
DECR2	26063	broad.mit.edu	37	16	461481	461481	+	Missense_Mutation	SNP	C	C	T	rs367552533		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr16:461481C>T	ENST00000219481.5	+	8	920	c.782C>T	c.(781-783)aCg>aTg	p.T261M	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.T249M	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	261					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCCTACGTGACGGGGGCCGTG	0.632																																						uc002chb.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(781-783)aCg>aTg		Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.		C	MET/THR	0,4404		0,0,2202	90	83	86		782	4.4	0.4	16		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	DECR2	NM_020664.3	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	261/293	461481	1,13003	2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:461481C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2754	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 17C, member 1"	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.782C>T	16.37:g.461481C>T	ENSP00000219481:p.Thr261Met		Somatic				DECR2_uc002chc.3_Missense_Mutation_p.T177M|DECR2_uc002chd.3_Missense_Mutation_p.T177M|DECR2_uc002che.1_Non-coding_Transcript	p.T261M	NM_020664	NP_065715	WXS	Illumina GAIIx	Phase_I	Q9NUI1	DECR2_HUMAN			7	888	+		Hepatocellular(16;0.00015)	261					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.782C>T	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012354	0.54468	0.0	1.16E-4	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.45668	0.89;0.89	5.33	4.38	0.52667	NAD(P)-binding domain (1);	0.091610	0.85682	D	0.000000	T	0.76133	0.3945	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84595	0.0669	10	0.87932	D	0	.	13.0638	0.59022	0.0:0.9221:0.0:0.0779	.	261	Q9NUI1	DECR2_HUMAN	M	261;249	ENSP00000219481:T261M;ENSP00000400374:T249M	ENSP00000219481:T261M	T	+	2	0	DECR2	401482	1.000000	0.71417	0.377000	0.26055	0.097000	0.18754	7.650000	0.83521	1.262000	0.44165	0.555000	0.69702	ACG		0.632	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		24	62	0	0	0	1	0	24	62					T	461481	C	T	461481	3	4	358	1	0	0	0	0	1	0	0	0	4383	536	19	1	812	1	DECR2	16	461481	Missense_Mutation	SNP	C	TCGA-FK-A3SG-01A-11D-A22D-08		461481	89893272	13	6121											
COL1A1	1277	broad.mit.edu	37	17	48276617	48276617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:48276617delG	ENST00000225964.5	-	5	559	c.441delC	c.(439-441)cccfs	p.P147fs		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	147					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	cgggaggtccggggggtccgg	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(439-441)cccfs		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						1	1	1					17																	48276617		1234	2663	3897	SO:0001589	frameshift_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48276617delG	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.441delC	17.37:g.48276617delG	ENSP00000225964:p.Pro147fs		Somatic					p.P147fs	NM_000088	NP_000079	WXS	Illumina GAIIx	Phase_I	P02452	CO1A1_HUMAN			4	567	-			147					O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Frame_Shift_Del	DEL	ENST00000225964.5	37	c.441delC	CCDS11561.1																																																																																				0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			2	4						2	4	---	---	---	---	-	48276617	G	-	48276617	7	5	358	1	0	1	0	1	0	0	0	0	3677	1103	39	0	4141	0	COL1A1	17	48276617	Frame_Shift_Del	DEL	G	TCGA-FK-A3SG-01A-11D-A22D-08		48276617	32918593	14	6122											
ZNF324B	388569	broad.mit.edu	37	19	58966764	58966764	+	Silent	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr19:58966764G>C	ENST00000336614.4	+	4	560	c.453G>C	c.(451-453)tcG>tcC	p.S151S	ZNF324B_ENST00000545523.1_Silent_p.S151S|ZNF324B_ENST00000391696.1_Silent_p.S141S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	151					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		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)		TGCTAGGCTCGCGCAGTGACC	0.632																																						uc002qsv.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(451-453)tcG>tcC		Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.							63	68	66					19																	58966764		2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58966764G>C	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.453G>C	19.37:g.58966764G>C			Somatic				ZNF324B_uc002qsu.1_Silent_p.S141S|ZNF324B_uc010euq.1_Silent_p.S151S	p.S151S	NM_207395	NP_997278	WXS	Illumina GAIIx	Phase_I	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	560	+		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)	151					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.453G>C	CCDS33138.1																																																																																				0.632	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		40	65	0	0	0	1	0	40	65					C	58966764	G	C	58966764	2	2	358	1	0	0	0	0	0	0	0	1	17842	1074	38	4		4	ZNF324B	19	58966764	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		58966764	162219	15	6123											
RNF128	79589	broad.mit.edu	37	X	105970419	105970419	+	Silent	SNP	G	G	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chrX:105970419G>T	ENST00000255499.2	+	1	526	c.276G>T	c.(274-276)gcG>gcT	p.A92A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	92	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGCCCGGGGCGCTTAACGCCT	0.677																																						uc004eml.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(274-276)gcG>gcT		Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.							20	20	20					X																	105970419		2202	4297	6499	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970419G>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.276G>T	X.37:g.105970419G>T			Somatic				RNF128_uc004emk.3_Intron	p.A92A	NM_194463	NP_919445	WXS	Illumina GAIIx	Phase_I	Q8TEB7	RN128_HUMAN			0	526	+			92			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.276G>T	CCDS14521.1																																																																																				0.677	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		6	27	0	0	0	1	0	6	27					T	105970419	G	T	105970419	2	4	358	1	0	0	0	0	0	0	0	1	13436	1074	38	4		4	RNF128	23	105970419	Silent	SNP	G	TCGA-FK-A3SG-01A-11D-A22D-08		105970419	49300141	16	6124											
KLHDC7A	127707	broad.mit.edu	37	1	18807491	18807491	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:18807491G>A	ENST00000400664.1	+	1	68	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	6						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGAGGAGCAGAGGCCCA	0.567																																						uc001bax.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(16-18)Gca>Aca		Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.							52	59	57					1																	18807491		2024	4198	6222	SO:0001583	missense	127707					integral to membrane		g.chr1:18807491G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.16G>A	1.37:g.18807491G>A	ENSP00000383505:p.Ala6Thr		Somatic				KLHDC7A_uc009vpg.3_5'Flank	p.A6T	NM_152375	NP_689588	WXS	Illumina GAIIx	Phase_I	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	68	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	6					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.16G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488478	0.26686	.	.	ENSG00000179023	ENST00000400664	T	0.77098	-1.07	5.62	2.73	0.32206	.	.	.	.	.	T	0.57725	0.2073	N	0.14661	0.345	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.45906	-0.9229	9	0.40728	T	0.16	.	4.6249	0.12474	0.3067:0.0:0.5512:0.1421	.	6	Q5VTJ3	KLD7A_HUMAN	T	6	ENSP00000383505:A6T	ENSP00000383505:A6T	A	+	1	0	KLHDC7A	18680078	0.063000	0.20901	0.866000	0.34008	0.182000	0.23217	0.507000	0.22675	0.322000	0.23283	-0.229000	0.12294	GCA		0.567	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		17	60	0	0	0	1	0	17	60					A	18807491	G	A	18807491	3	1	359	1	0	0	0	0	1	0	0	0	8360	971	34	2	18	2	KLHDC7A	1	18807491	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		18807491	230443130	1	6125											
CCDC19	25790	broad.mit.edu	37	1	159863058	159863058	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:159863058G>A	ENST00000368099.4	-	2	105	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTTGGAAGCGGCAGAAGAGGA	0.532																																						uc001fui.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(40-42)gCc>gTc		Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.							143	141	142					1																	159863058		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159863058G>A																												ENST00000368099.4:c.41C>T	1.37:g.159863058G>A	ENSP00000357079:p.Ala14Val		Somatic				CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A14V	p.A14V	NM_012337	NP_036469	WXS	Illumina GAIIx	Phase_I	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		1	59	-	all_hematologic(112;0.0597)		14						Missense_Mutation	SNP	ENST00000368099.4	37	c.41C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759857	0.15846	.	.	ENSG00000213085	ENST00000368099	T	0.44083	0.93	5.94	3.98	0.46160	.	0.939887	0.08969	N	0.867444	T	0.06917	0.0176	N	0.03608	-0.345	0.20074	N	0.999934	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35301	-0.9794	9	.	.	.	-7.9734	7.5713	0.27909	0.0:0.2147:0.6104:0.1749	.	14;14	A8K884;Q9UL16	.;CCD19_HUMAN	V	14	ENSP00000357079:A14V	.	A	-	2	0	CCDC19	158129682	0.001000	0.12720	0.003000	0.11579	0.029000	0.11900	0.584000	0.23864	1.448000	0.47680	0.563000	0.77884	GCC		0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			4	163	0	0	0	1	0	4	163					A	159863058	G	A	159863058	3	1	359	1	0	0	0	0	1	0	0	0	2795	1203	42	2	1658	2	CCDC19	1	159863058	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	141055567	159863058	89387563	2	6126											
ASTN1	460	broad.mit.edu	37	1	176993813	176993813	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:176993813G>A	ENST00000367654.3	-	6	1387	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T392T|ASTN1_ENST00000361833.2_Silent_p.T392T|ASTN1_ENST00000367657.3_Silent_p.T392T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	392					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACACAGCTGGTGATGCTGA	0.517																																						uc001glc.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1174-1176)acC>acT		Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.							165	130	142					1																	176993813		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993813G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1176C>T	1.37:g.176993813G>A			Somatic				ASTN1_uc001glb.1_Silent_p.T392T|ASTN1_uc001gld.1_Silent_p.T392T|ASTN1_uc009wwx.1_Silent_p.T392T|ASTN1_uc001gle.4_Non-coding_Transcript	p.T392T	NM_004319	NP_004310	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			5	1388	-			392					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1176C>T																																																																																					0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	59	0	0	0	1	0	3	59					A	176993813	G	A	176993813	2	1	359	1	0	0	0	0	0	0	0	1	1064	1335	47	2		2	ASTN1	1	176993813	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	17130755	176993813	72256808	3	6127											
CFH	3075	broad.mit.edu	37	1	196715005	196715005	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:196715005C>T	ENST00000367429.4	+	21	3609	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1123	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACTTCATTCCCGTTGTCAG	0.403																																						uc001gtj.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3367-3369)ttC>ttT		Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							121	117	118					1																	196715005		2203	4297	6500	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196715005C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3369C>T	1.37:g.196715005C>T			Somatic				CFH_uc021pgt.1_Intron	p.F1123F	NM_000186	NP_000177	WXS	Illumina GAIIx	Phase_I	P08603	CFAH_HUMAN			20	3609	+			1123			Sushi 19.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3369C>T	CCDS1385.1																																																																																				0.403	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		11	137	0	0	0	1	0	11	137					T	196715005	C	T	196715005	2	4	359	1	0	0	0	0	0	0	0	1	3283	854	30	2		2	CFH	1	196715005	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	19721192	196715005	52535616	4	6128											
VWA3B	200403	broad.mit.edu	37	2	98809456	98809456	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:98809456G>A	ENST00000477737.1	+	11	1766	c.1562G>A	c.(1561-1563)aGc>aAc	p.S521N	VWA3B_ENST00000451075.2_Missense_Mutation_p.S371N|VWA3B_ENST00000435344.1_Missense_Mutation_p.S521N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	521	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAATGAAGAGCAAACTGGAC	0.423																																						uc002syo.3																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1561-1563)aGc>aAc		Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.							178	165	169					2																	98809456		1951	4161	6112	SO:0001583	missense	200403							g.chr2:98809456G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1562G>A	2.37:g.98809456G>A	ENSP00000417955:p.Ser521Asn		Somatic				VWA3B_uc010yvh.2_Missense_Mutation_p.S371N|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.S40N|VWA3B_uc002sym.3_Missense_Mutation_p.S521N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.S178N|VWA3B_uc002syp.1_5'UTR	p.S521N	NM_144992	NP_659429	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			10	1826	+			521			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1562G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691776	0.68271	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.78246	-1.16;3.1;-1.16	5.59	1.55	0.23275	von Willebrand factor, type A (3);	0.364542	0.25386	N	0.031045	T	0.58878	0.2153	L	0.29908	0.895	0.21719	N	0.999577	B;B;B;B	0.26902	0.082;0.163;0.045;0.002	B;B;B;B	0.33960	0.033;0.173;0.033;0.005	T	0.46373	-0.9196	10	0.05620	T	0.96	.	4.1792	0.10367	0.4273:0.1668:0.4058:0.0	.	371;521;521;521	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	N	521;521;371	ENSP00000401959:S521N;ENSP00000417955:S521N;ENSP00000389463:S371N	ENSP00000388158:S521N	S	+	2	0	VWA3B	98175888	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	1.881000	0.39638	0.240000	0.21263	0.650000	0.86243	AGC		0.423	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		6	140	0	0	0	1	0	6	140					A	98809456	G	A	98809456	3	1	359	1	0	0	0	0	1	0	0	0	17238	971	34	2	1600	2	VWA3B	2	98809456	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		98809456	144389917	5	6129											
POTEE	445582	broad.mit.edu	37	2	132021599	132021599	+	Silent	SNP	C	C	T	rs531655290	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:132021599C>T	ENST00000356920.5	+	15	2665	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	857	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACTCTGGTGACGGGGTCACCC	0.617													.|||	4	0.000798722	0	0.0014	5008	,	,		23413	0		0	False		,,,				2504	0.0031					uc002tsn.2																			0											c.(2569-2571)gaC>gaT		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							67	68	67					2																	132021599		2144	4178	6322	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021599C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2571C>T	2.37:g.132021599C>T			Somatic				PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.D457D|POTEE_uc002tsl.2_Silent_p.D439D|POTEE_uc010fmy.1_Silent_p.D321D	p.D857D	NM_001083538	NP_001077007	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			14	2623	+			857			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2571C>T	CCDS46414.1																																																																																				0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	234	0	0	0	1	0	6	234					T	132021599	C	T	132021599	2	4	359	1	0	0	0	0	0	0	0	1	12264	535	19	1		1	POTEE	2	132021599	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	33212143	132021599	111177774	6	6130											
HOXD12	3238	broad.mit.edu	37	2	176965332	176965332	+	Missense_Mutation	SNP	C	C	A	rs535102738	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:176965332C>A	ENST00000406506.2	+	2	729	c.657C>A	c.(655-657)aaC>aaA	p.N219K	HOXD12_ENST00000404162.2_Silent_p.R229R			P35452	HXD12_HUMAN	homeobox D12	219					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGTTGGAGAACGAATTCCTCG	0.567																																						uc010zev.1																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(655-657)aaC>aaA		Homo sapiens homeobox D12 (HOXD12), mRNA.							34	36	36					2																	176965332		1963	4163	6126	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965332C>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.657C>A	2.37:g.176965332C>A	ENSP00000385586:p.Asn219Lys		Somatic				HOXD12_uc021vsp.1_3'UTR	p.N219K	NM_021193	NP_067016	WXS	Illumina GAIIx	Phase_I	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	657	+			219					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.657C>A	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377746	0.61735	.	.	ENSG00000170178	ENST00000406506	D	0.95588	-3.75	5.29	3.48	0.39840	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	N	0.01424	-0.875	0.80722	D	1	P	0.35050	0.482	B	0.34722	0.188	T	0.79931	-0.1595	10	0.02654	T	1	.	7.701	0.28623	0.0:0.7219:0.1335:0.1446	.	219	P35452	HXD12_HUMAN	K	219	ENSP00000385586:N219K	ENSP00000385586:N219K	N	+	3	2	HOXD12	176673578	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.452000	0.21795	0.615000	0.30124	0.655000	0.94253	AAC		0.567	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		5	27	0	0	0	1	0	5	27					A	176965332	C	A	176965332	3	1	359	1	0	0	0	0	1	0	0	0	7321	535	19	4	663	4	HOXD12	2	176965332	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	44943733	176965332	66234041	7	6131											
TNS1	7145	broad.mit.edu	37	2	218683463	218683463	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:218683463G>A	ENST00000171887.4	-	24	3732	c.3280C>T	c.(3280-3282)Ccg>Tcg	p.P1094S	TNS1_ENST00000430930.1_Missense_Mutation_p.P1073S|TNS1_ENST00000419504.1_Missense_Mutation_p.P1081S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1094	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTCCCGACGGGAAACTCCCC	0.622																																						uc002vgt.2																			0		p.F1093L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3280-3282)Ccg>Tcg		Homo sapiens tensin 1 (TNS1), mRNA.							25	28	27					2																	218683463		2202	4293	6495	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683463G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3280C>T	2.37:g.218683463G>A	ENSP00000171887:p.Pro1094Ser		Somatic				TNS1_uc002vgr.2_Missense_Mutation_p.P1081S|TNS1_uc002vgs.2_Missense_Mutation_p.P1073S|TNS1_uc010zjv.1_Missense_Mutation_p.P1073S	p.P1094S	NM_022648	NP_072174	WXS	Illumina GAIIx	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	23	3678	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1094			Ser-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3280C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330448	0.41297	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91521	-2.85;2.15;-2.85;-2.86	5.27	5.27	0.74061	.	0.312563	0.30620	N	0.009221	D	0.90913	0.7144	N	0.14661	0.345	0.80722	D	1	D;D;B	0.89917	0.991;1.0;0.342	P;D;B	0.85130	0.825;0.997;0.132	D	0.90293	0.4324	10	0.29301	T	0.29	.	18.8929	0.92412	0.0:0.0:1.0:0.0	.	1094;1073;1081	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	1094;232;1081;1073	ENSP00000171887:P1094S;ENSP00000394171:P232S;ENSP00000408724:P1081S;ENSP00000406016:P1073S	ENSP00000171887:P1094S	P	-	1	0	TNS1	218391708	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	6.900000	0.75687	2.472000	0.83506	0.655000	0.94253	CCG		0.622	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	59	0	0	0	1	0	3	59					A	218683463	G	A	218683463	3	1	359	1	0	0	0	0	1	0	0	0	16340	1232	43	2	1967	2	TNS1	2	218683463	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	41718131	218683463	24515910	8	6132											
GLB1L	79411	broad.mit.edu	37	2	220108253	220108253	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:220108253G>A	ENST00000295759.7	-	2	356	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	STK16_ENST00000409260.1_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15S|STK16_ENST00000409516.3_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.P15S|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15S			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					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)		AGGCTGAGCGGCAGCAGCAGG	0.612																																						uc002vkm.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(43-45)Ccg>Tcg		Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.							77	67	71					2																	220108253		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220108253G>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.43C>T	2.37:g.220108253G>A	ENSP00000295759:p.Pro15Ser		Somatic				GLB1L_uc010zkx.2_Missense_Mutation_p.P15S|GLB1L_uc002vkn.3_Missense_Mutation_p.P15S|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	p.P15S	NM_024506	NP_078782	WXS	Illumina GAIIx	Phase_I	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)	1	282	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	15					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.43C>T	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295889	0.40594	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427;ENST00000424620	D;D;D;D;D	0.96885	-4.16;-3.9;-4.16;-3.9;-3.18	4.97	2.2	0.27929	.	1.389420	0.04151	N	0.321248	D	0.90280	0.6960	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.81818	-0.0758	10	0.22109	T	0.4	1.4498	8.2287	0.31584	0.2672:0.0:0.7328:0.0	.	15;15	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	S	15	ENSP00000295759:P15S;ENSP00000386354:P15S;ENSP00000375939:P15S;ENSP00000348628:P15S;ENSP00000400738:P15S	ENSP00000295759:P15S	P	-	1	0	GLB1L	219816497	0.619000	0.27059	0.578000	0.28575	0.644000	0.38419	0.957000	0.29215	0.804000	0.34136	-0.253000	0.11424	CCG		0.612	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		3	100	0	0	0	1	0	3	100					A	220108253	G	A	220108253	3	1	359	1	0	0	0	0	1	0	0	0	6428	1203	42	2	1985	2	GLB1L	2	220108253	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	1424790	220108253	23091120	9	6133											
PCDHA4	56144	broad.mit.edu	37	5	140188524	140188524	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr5:140188524G>A	ENST00000530339.1	+	1	1752	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHA4_ENST00000356878.4_Silent_p.S584S|PCDHA4_ENST00000512229.2_Silent_p.S584S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	584					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)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCATGGTCGGTGGGTGTGG	0.672																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1750-1752)tcG>tcA		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							107	99	102					5																	140188524		2203	4299	6502	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188524G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1752G>A	5.37:g.140188524G>A			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.S584S|PCDHAC2_uc011daa.2_Silent_p.S584S	p.S584S	NM_018907	NP_061730	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1853	+			597					O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1752G>A	CCDS54916.1																																																																																				0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	156	0	0	0	1	0	4	156					A	140188524	G	A	140188524	2	1	359	1	0	0	0	0	0	0	0	1	11526	1103	39	1		1	PCDHA4	5	140188524	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		140188524	40726736	10	6134											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	65	0	0	0	1	0	38	65					T	140453136	A	T	140453136	3	4	359	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		140453136	18685527	11	6135											
TDRD7	23424	broad.mit.edu	37	9	100227245	100227245	+	Missense_Mutation	SNP	G	G	A	rs376918636		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:100227245G>A	ENST00000355295.4	+	8	1859	c.1564G>A	c.(1564-1566)Gta>Ata	p.V522I	TDRD7_ENST00000422139.2_Missense_Mutation_p.V448I	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	522	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTTGCTGGCCGTAAATGCCGA	0.448																																						uc004axj.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1564-1566)Gta>Ata		Homo sapiens tudor domain containing 7 (TDRD7), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	99	89	93		1564	3.5	0.0	9		93	0,8600		0,0,4300	no	missense	TDRD7	NM_014290.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	522/1099	100227245	1,13005	2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100227245G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1564G>A	9.37:g.100227245G>A	ENSP00000347444:p.Val522Ile		Somatic				TDRD7_uc011lux.2_Missense_Mutation_p.V448I	p.V522I	NM_014290	NP_055105	WXS	Illumina GAIIx	Phase_I	Q8NHU6	TDRD7_HUMAN			7	1789	+		Acute lymphoblastic leukemia(62;0.158)	522			Tudor 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1564G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461506	0.43736	2.27E-4	0.0	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.13538	2.58;2.58	5.32	3.51	0.40186	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.165964	0.52532	N	0.000061	T	0.31765	0.0807	M	0.73962	2.25	0.42496	D	0.992917	D	0.89917	1.0	D	0.63113	0.911	T	0.03384	-1.1042	10	0.45353	T	0.12	-14.303	11.24	0.48964	0.1455:0.0:0.8545:0.0	.	522	Q8NHU6	TDRD7_HUMAN	I	522;448	ENSP00000347444:V522I;ENSP00000413608:V448I	ENSP00000347444:V522I	V	+	1	0	TDRD7	99267066	1.000000	0.71417	0.011000	0.14972	0.432000	0.31715	5.012000	0.64017	0.772000	0.33382	-1.012000	0.02466	GTA		0.448	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		3	64	0	0	0	1	0	3	64					A	100227245	G	A	100227245	3	1	359	1	0	0	0	0	1	0	0	0	15732	1145	40	1	1590	1	TDRD7	9	100227245	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		100227245	40986186	12	6136											
COL5A1	1289	broad.mit.edu	37	9	137716627	137716627	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:137716627G>A	ENST00000371817.3	+	62	5294	c.4880G>A	c.(4879-4881)cGg>cAg	p.R1627Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1627	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		CAGATGAAACGGCCCCTGGGC	0.637																																						uc004cfe.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.(4879-4881)cGg>cAg		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							61	55	57					9																	137716627		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.chr9:137716627G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4880G>A	9.37:g.137716627G>A	ENSP00000360882:p.Arg1627Gln		Somatic				BC058547_uc004cff.3_Intron	p.R1627Q	NM_000093	NP_000084	WXS	Illumina GAIIx	Phase_I	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)	61	5262	+		Myeloproliferative disorder(178;0.0341)	1627			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4880G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214105	0.58452	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.72942	-0.7	4.16	2.95	0.34219	Fibrillar collagen, C-terminal (3);	0.080378	0.49916	U	0.000140	T	0.57475	0.2056	L	0.49126	1.545	0.28781	N	0.899816	B	0.24920	0.114	B	0.27796	0.083	T	0.44421	-0.9329	10	0.29301	T	0.29	.	3.2628	0.06854	0.448:0.0:0.552:0.0	.	1627	P20908	CO5A1_HUMAN	Q	1627;164	ENSP00000360882:R1627Q	ENSP00000347458:R164Q	R	+	2	0	COL5A1	136856448	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.171000	0.71926	2.065000	0.61736	0.539000	0.68188	CGG		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	52	0	0	0	1	0	4	52					A	137716627	G	A	137716627	3	1	359	1	0	0	0	0	1	0	0	0	3696	1116	39	1	5126	1	COL5A1	9	137716627	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	37489382	137716627	3496804	13	6137											
RET	5979	broad.mit.edu	37	10	43606831	43606831	+	Silent	SNP	A	A	G			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:43606831A>G	ENST00000355710.3	+	7	1672	c.1440A>G	c.(1438-1440)gaA>gaG	p.E480E	RET_ENST00000340058.5_Silent_p.E480E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	480			E -> K (in HSCR1). {ECO:0000269|PubMed:22174939}.		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)	AGTGTGCCGAACTTCACTACA	0.627		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)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	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.(1438-1440)gaA>gaG		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)						63	59	60					10																	43606831		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	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.chr10:43606831A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1440A>G	10.37:g.43606831A>G			Somatic				RET_uc001jak.1_Silent_p.E480E|RET_uc010qez.1_Silent_p.E226E	p.E480E	NM_020975	NP_066124	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			6	1630	+		Ovarian(717;0.0423)	480					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1440A>G	CCDS7200.1																																																																																				0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		26	61	0	0	0	1	0	26	61					G	43606831	A	G	43606831	2	3	359	1	0	0	0	0	0	0	0	1	13235	40	2	3		3	RET	10	43606831	Silent	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		43606831	91927916	14	6138											
PGBD3	267004	broad.mit.edu	37	10	50723850	50723850	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:50723850G>A	ENST00000374127.3	-	2	1512	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	ERCC6-PGBD3_ENST00000515869.1_Silent_p.Y905Y|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Silent_p.Y905Y|PGBD3_ENST00000508005.2_Silent_p.Y437Y|ERCC6-PGBD3_ENST00000447839.2_Silent_p.Y905Y	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	437										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTTTCTGGGAGTAACGACTGA	0.438																																						uc009xoe.3																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2713-2715)taC>taT	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens piggyBac transposable element derived 3 (PGBD3), mRNA.							136	125	129					10																	50723850		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	g.chr10:50723850G>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1311C>T	10.37:g.50723850G>A			Somatic				ERCC6_uc001jhs.4_Intron|ERCC6_uc001jht.3_Silent_p.Y437Y|ERCC6_uc001jhu.3_Silent_p.Y905Y|ERCC6_uc021pqe.1_Silent_p.Y437Y	p.Y905Y	NM_170753	NP_736609	WXS	Illumina GAIIx	Phase_I	Q03468	ERCC6_HUMAN			5	2869	-			1331			Helicase C-terminal.		B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	c.2715C>T	CCDS7230.1																																																																																				0.438	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			4	198	0	0	0	1	0	4	198					A	50723850	G	A	50723850	2	1	359	1	0	0	0	0	0	0	0	1	11782	1024	36	2		2	PGBD3	10	50723850	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	7117019	50723850	84810897	15	6139											
ZMIZ1	57178	broad.mit.edu	37	10	81058872	81058872	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:81058872C>T	ENST00000334512.5	+	16	2304	c.1732C>T	c.(1732-1734)Cgc>Tgc	p.R578C		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	578					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGAGCCCTTCCGCCTGGAGCA	0.662																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1732-1734)Cgc>Tgc		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							85	66	72					10																	81058872		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058872C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1732C>T	10.37:g.81058872C>T	ENSP00000334474:p.Arg578Cys		Somatic				ZMIZ1_uc001kag.2_Missense_Mutation_p.R454C	p.R578C	NM_020338	NP_065071	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		15	2304	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		578					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1732C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402258	0.83230	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.52754	0.65	5.6	4.64	0.57946	.	0.000000	0.41823	D	0.000818	T	0.69043	0.3067	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73248	-0.4043	10	0.87932	D	0	-19.6485	15.2938	0.73888	0.1407:0.8593:0.0:0.0	.	578	Q9ULJ6	ZMIZ1_HUMAN	C	578;508;484	ENSP00000334474:R578C	ENSP00000334474:R578C	R	+	1	0	ZMIZ1	80728878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.332000	0.43903	2.636000	0.89361	0.585000	0.79938	CGC		0.662	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		4	68	0	0	0	1	0	4	68					T	81058872	C	T	81058872	3	4	359	1	0	0	0	0	1	0	0	0	17693	652	23	1	1778	1	ZMIZ1	10	81058872	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	30335022	81058872	54475875	16	6140											
TACC2	10579	broad.mit.edu	37	10	123846133	123846133	+	Missense_Mutation	SNP	G	G	A	rs149524584		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:123846133G>A	ENST00000369005.1	+	4	4458	c.4118G>A	c.(4117-4119)aGc>aAc	p.S1373N	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S1373N|TACC2_ENST00000515273.1_Missense_Mutation_p.S1373N|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1373N|TACC2_ENST00000515603.1_Missense_Mutation_p.S1373N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1373					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGAGGGCAGCATGGAGAGG	0.607																																						uc001lfv.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4117-4119)aGc>aAc		Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.							116	82	94					10																	123846133		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846133G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4118G>A	10.37:g.123846133G>A	ENSP00000358001:p.Ser1373Asn		Somatic				TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S1373N|TACC2_uc010qtv.2_Missense_Mutation_p.S1373N	p.S1373N	NM_206862	NP_996744	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			3	4478	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1373					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.4118G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536486	0.45176	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.08984	3.11;3.22;3.03;3.11;3.22	4.82	2.92	0.33932	.	0.875097	0.09511	N	0.792268	T	0.04770	0.0129	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32203	0.36;0.36;0.116	B;B;B	0.27796	0.083;0.083;0.083	T	0.45175	-0.9279	10	0.18710	T	0.47	-0.4866	4.8363	0.13466	0.1858:0.0:0.646:0.1683	.	1373;1373;1373	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	N	1373;1373;1373;1373;1373;1363	ENSP00000358001:S1373N;ENSP00000424467:S1373N;ENSP00000427618:S1373N;ENSP00000334280:S1373N;ENSP00000395048:S1373N	ENSP00000334280:S1373N	S	+	2	0	TACC2	123836123	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-0.413000	0.07123	0.418000	0.25898	0.448000	0.29417	AGC		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			3	78	0	0	0	1	0	3	78					A	123846133	G	A	123846133	3	1	359	1	0	0	0	0	1	0	0	0	15499	971	34	2	4128	2	TACC2	10	123846133	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	42787261	123846133	11688614	17	6141											
C2CD3	26005	broad.mit.edu	37	11	73759286	73759286	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:73759286G>A	ENST00000334126.7	-	28	5685	c.5459C>T	c.(5458-5460)gCc>gTc	p.A1820V	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1820V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1820					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTTGAGGAGGCATGAGCAAG	0.473																																						uc001ouu.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(5458-5460)gCc>gTc		Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.							84	74	78					11																	73759286		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73759286G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5459C>T	11.37:g.73759286G>A	ENSP00000334379:p.Ala1820Val		Somatic				C2CD3_uc001out.3_Non-coding_Transcript	p.A1820V	NM_015531	NP_056346	WXS	Illumina GAIIx	Phase_I	Q4AC94	C2CD3_HUMAN			27	5686	-	Breast(11;4.16e-06)		1820					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5459C>T		.	.	.	.	.	.	.	.	.	.	G	0.134	-1.110340	0.01813	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14144	2.93;2.94;2.53	4.75	-2.23	0.06930	.	1.093190	0.06692	N	0.769884	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42783	-0.9431	10	0.17369	T	0.5	3.3706	5.1379	0.14945	0.4907:0.1542:0.3551:0.0	.	1820	Q4AC94-1	.	V	1820;1820;1801;628	ENSP00000334379:A1820V;ENSP00000323339:A1820V;ENSP00000388750:A628V	ENSP00000323339:A1820V	A	-	2	0	C2CD3	73436934	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.747000	0.26290	-0.189000	0.10482	-0.982000	0.02568	GCC		0.473	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		6	20	0	0	0	1	0	6	20					A	73759286	G	A	73759286	3	1	359	1	0	0	0	0	1	0	0	0	2154	1203	42	2	448	2	C2CD3	11	73759286	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		73759286	61247230	18	6142											
SLCO2B1	11309	broad.mit.edu	37	11	74911324	74911324	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:74911324C>A	ENST00000289575.5	+	11	2050	c.1655C>A	c.(1654-1656)tCc>tAc	p.S552Y	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S530Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S408Y|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S297Y|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S436Y	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	552					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)	CTGGCAGGATCCTGCGACTCA	0.622																																						uc001owb.3																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1654-1656)tCc>tAc		Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	Ergoloid mesylate(DB01049)						118	108	111					11																	74911324		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74911324C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1655C>A	11.37:g.74911324C>A	ENSP00000289575:p.Ser552Tyr		Somatic				SLCO2B1_uc010rrq.2_Missense_Mutation_p.S297Y|SLCO2B1_uc010rrr.2_Missense_Mutation_p.S408Y|SLCO2B1_uc010rrs.2_Missense_Mutation_p.S436Y|SLCO2B1_uc001owc.3_Missense_Mutation_p.S325Y|SLCO2B1_uc001owd.3_Missense_Mutation_p.S530Y	p.S552Y	NM_007256	NP_001138683	WXS	Illumina GAIIx	Phase_I	O94956	SO2B1_HUMAN			10	2050	+			552					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1655C>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210404	0.58343	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.061393	0.64402	D	0.000005	T	0.59252	0.2180	L	0.55481	1.735	0.51233	D	0.99991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.991;0.995	T	0.53373	-0.8448	10	0.30854	T	0.27	.	16.6086	0.84837	0.0:1.0:0.0:0.0	.	408;297;325;552	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	Y	552;325;436;297;408;325;530	ENSP00000289575:S552Y;ENSP00000341286:S325Y;ENSP00000434112:S436Y;ENSP00000432650:S297Y;ENSP00000436324:S408Y;ENSP00000389653:S325Y;ENSP00000388912:S530Y	ENSP00000289575:S552Y	S	+	2	0	SLCO2B1	74588972	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.876000	0.56115	2.524000	0.85096	0.462000	0.41574	TCC		0.622	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		12	218	0	0	0	1	0	12	218					A	74911324	C	A	74911324	3	1	359	1	0	0	0	0	1	0	0	0	14727	855	30	4	1697	4	SLCO2B1	11	74911324	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	1152038	74911324	60095192	19	6143											
USP2	9099	broad.mit.edu	37	11	119244101	119244101	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:119244101G>A	ENST00000260187.2	-	2	384	c.90C>T	c.(88-90)taC>taT	p.Y30Y	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	30	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGGACGGGGTGTAGGCACCAT	0.602																																						uc001pwm.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(88-90)taC>taT		Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.							55	45	48					11																	119244101		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244101G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.90C>T	11.37:g.119244101G>A			Somatic				USP2_uc001pwn.4_Intron	p.Y30Y	NM_004205	NP_004196	WXS	Illumina GAIIx	Phase_I	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	1	385	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	30			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.90C>T	CCDS8422.1																																																																																				0.602	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		4	63	0	0	0	1	0	4	63					A	119244101	G	A	119244101	2	1	359	1	0	0	0	0	0	0	0	1	17048	1372	48	2		2	USP2	11	119244101	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	44332777	119244101	15762415	20	6144											
VDR	7421	broad.mit.edu	37	12	48240527	48240527	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:48240527G>A	ENST00000395324.2	-	8	1088	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	VDR_ENST00000535672.1_Missense_Mutation_p.R242C|VDR_ENST00000549336.1_Missense_Mutation_p.R274C|VDR_ENST00000229022.3_Missense_Mutation_p.R274C|VDR_ENST00000550325.1_Missense_Mutation_p.R324C			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	274	Ligand-binding.|Vitamin D3 binding.		R -> L (in VDDR2A; decreases affinity for ligand by a factor of 1000). {ECO:0000269|PubMed:8392085}.		bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTGGAGCGCAACATGATG	0.542																																						uc001rql.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(970-972)Cgc>Tgc		Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						207	148	168					12																	48240527		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48240527G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.820C>T	12.37:g.48240527G>A	ENSP00000378734:p.Arg274Cys		Somatic				VDR_uc001rqm.3_Missense_Mutation_p.R274C|VDR_uc001rqn.3_Missense_Mutation_p.R274C|VDR_uc010slq.2_Missense_Mutation_p.R242C	p.R324C	NM_001017536	NP_001017536	WXS	Illumina GAIIx	Phase_I	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	7	1371	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	274			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.970C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265827	0.80358	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.993;1.0	D	0.99243	1.0885	10	0.87932	D	0	.	16.673	0.85271	0.0:0.0:1.0:0.0	.	242;274;324	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	C	274;274;274;324;242	ENSP00000378734:R274C;ENSP00000229022:R274C;ENSP00000449573:R274C;ENSP00000447173:R324C;ENSP00000442145:R242C	ENSP00000229022:R274C	R	-	1	0	VDR	46526794	1.000000	0.71417	0.991000	0.47740	0.412000	0.31113	7.747000	0.85070	2.623000	0.88846	0.655000	0.94253	CGC		0.542	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			3	79	0	0	0	1	0	3	79					A	48240527	G	A	48240527	3	1	359	1	0	0	0	0	1	0	0	0	17146	1087	38	1	475	1	VDR	12	48240527	Missense_Mutation	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08		48240527	85611368	21	6145											
C12orf10	60314	broad.mit.edu	37	12	53700517	53700517	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:53700517G>A	ENST00000267103.5	+	6	871	c.819G>A	c.(817-819)aaG>aaA	p.K273K	C12orf10_ENST00000548632.1_Silent_p.K198K|C12orf10_ENST00000549488.1_Silent_p.K110K|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	273					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTCCCTGGAAGGAGCATCTCT	0.532																																						uc001scp.4																			0		p.W272R(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.(817-819)aaG>aaA		Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.							149	124	132					12																	53700517		2203	4300	6503	SO:0001819	synonymous_variant	60314							g.chr12:53700517G>A	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"melanocyte related gene", "melanocyte proliferating gene 1"	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.819G>A	12.37:g.53700517G>A			Somatic				C12orf10_uc009zmx.3_Silent_p.K222K|C12orf10_uc001scq.4_Silent_p.K158K	p.K273K	NM_021640	NP_067653	WXS	Illumina GAIIx	Phase_I	Q86UA3	Q86UA3_HUMAN			5	871	+			273						Silent	SNP	ENST00000267103.5	37	c.819G>A	CCDS31810.1																																																																																				0.532	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		3	145	0	0	0	1	0	3	145					A	53700517	G	A	53700517	2	1	359	1	0	0	0	0	0	0	0	1	1674	991	35	2		2	C12orf10	12	53700517	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	5459990	53700517	80151378	22	6146											
STAT2	6773	broad.mit.edu	37	12	56748323	56748323	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:56748323C>T	ENST00000314128.4	-	8	732	c.709G>A	c.(709-711)Gag>Aag	p.E237K	STAT2_ENST00000557235.1_Missense_Mutation_p.E233K|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.E233K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	237					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCCTTCCACTCCTCCAACTTT	0.542																																						uc001slc.3																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(709-711)Gag>Aag		Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.							141	114	123					12																	56748323		2203	4300	6503	SO:0001583	missense	6773				JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56748323C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.709G>A	12.37:g.56748323C>T	ENSP00000315768:p.Glu237Lys		Somatic				STAT2_uc001sld.3_Missense_Mutation_p.E233K|STAT2_uc010sqn.2_Missense_Mutation_p.E233K	p.E237K	NM_005419	NP_005410	WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			7	912	-			237					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.709G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604935	0.66445	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.61627	0.09;0.09;0.09	4.78	2.92	0.33932	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.285481	0.37437	N	0.002083	T	0.64583	0.2611	M	0.81497	2.545	0.46061	D	0.998846	P;P;P	0.49090	0.84;0.744;0.919	P;P;P	0.50896	0.653;0.543;0.61	T	0.63184	-0.6694	10	0.34782	T	0.22	-9.5053	9.4043	0.38451	0.0:0.7737:0.1454:0.0809	.	233;233;237	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	K	237;233;233	ENSP00000315768:E237K;ENSP00000450751:E233K;ENSP00000387354:E233K	ENSP00000315768:E237K	E	-	1	0	STAT2	55034590	0.973000	0.33851	0.039000	0.18376	0.329000	0.28539	2.523000	0.45580	0.706000	0.31912	0.591000	0.81541	GAG		0.542	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		7	127	0	0	0	1	0	7	127					T	56748323	C	T	56748323	3	4	359	1	0	0	0	0	1	0	0	0	15264	864	30	2	1914	2	STAT2	12	56748323	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08	3047806	56748323	77103572	23	6147											
SERPINE3	647174	broad.mit.edu	37	13	51915275	51915275	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr13:51915275C>T	ENST00000521255.1	+	1	108	c.48C>T	c.(46-48)ctC>ctT	p.L16L	SERPINE3_ENST00000524365.1_Silent_p.L16L|SERPINE3_ENST00000400389.4_Silent_p.L16L	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	16					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CTTGCTGCCTCCGAGCAAATG	0.542																																						uc001vfh.2																			0				ovary(2)	2						c.(46-48)ctC>ctT		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.							96	99	98					13																	51915275		2114	4243	6357	SO:0001819	synonymous_variant	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915275C>T	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.48C>T	13.37:g.51915275C>T			Somatic				SERPINE3_uc010tgp.2_Silent_p.L16L	p.L16L	NM_001101320	NP_001094790	WXS	Illumina GAIIx	Phase_I	A8MV23	SERP3_HUMAN			0	108	+			16					B1V8P3	Silent	SNP	ENST00000521255.1	37	c.48C>T	CCDS53870.1																																																																																				0.542	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		22	75	0	0	0	1	0	22	75					T	51915275	C	T	51915275	2	4	359	1	0	0	0	0	0	0	0	1	14113	842	30	2		2	SERPINE3	13	51915275	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		51915275	63254603	24	6148											
SLC28A1	9154	broad.mit.edu	37	15	85461766	85461766	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr15:85461766C>T	ENST00000286749.3	+	9	897	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC28A1_ENST00000537216.1_Silent_p.I269I|SLC28A1_ENST00000537624.1_Silent_p.I269I|SLC28A1_ENST00000537703.1_Silent_p.I191I|SLC28A1_ENST00000538177.1_Silent_p.I269I|SLC28A1_ENST00000394573.1_Silent_p.I269I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	269					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTCTGCCCATCATTGTCTTTT	0.597																																						uc002blg.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(805-807)atC>atT		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.							249	230	237					15																	85461766		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85461766C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.807C>T	15.37:g.85461766C>T			Somatic				SLC28A1_uc010upd.1_Silent_p.I191I|SLC28A1_uc010bnb.3_Silent_p.I269I|SLC28A1_uc010upe.2_Silent_p.I269I|SLC28A1_uc010upf.1_Silent_p.I269I|SLC28A1_uc010upg.1_Silent_p.I269I	p.I269I	NM_004213	NP_004204	WXS	Illumina GAIIx	Phase_I	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		9	1009	+			269					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.807C>T	CCDS10334.1																																																																																				0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			5	150	0	0	0	1	0	5	150					T	85461766	C	T	85461766	2	4	359	1	0	0	0	0	0	0	0	1	14531	816	29	2		2	SLC28A1	15	85461766	Silent	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		85461766	17069626	25	6149											
CREB3L3	84699	broad.mit.edu	37	19	4171092	4171092	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr19:4171092C>A	ENST00000078445.2	+	8	1042	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CREB3L3_ENST00000602257.1_Missense_Mutation_p.L297I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P263H|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L298I|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	299	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTAAGGTCCCTCTTGGAGCA	0.602																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(895-897)Ctc>Atc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.							79	74	76					19																	4171092		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171092C>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.895C>A	19.37:g.4171092C>A	ENSP00000078445:p.Leu299Ile		Somatic				CREB3L3_uc002lzm.3_Missense_Mutation_p.L289I|CREB3L3_uc010xib.2_Missense_Mutation_p.L288I|CREB3L3_uc010xic.2_Missense_Mutation_p.P254H	p.L299I	NM_032607	NP_115996	WXS	Illumina GAIIx	Phase_I	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1011	+			299			Leucine-zipper.		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.895C>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432416	0.83776	.	.	ENSG00000060566	ENST00000078445	T	0.65178	-0.14	4.98	4.98	0.66077	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	.	.	.	.	T	0.79890	0.4524	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.82418	-0.0467	9	0.59425	D	0.04	-40.8717	15.7209	0.77710	0.0:1.0:0.0:0.0	.	297;298;299	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	I	299	ENSP00000078445:L299I	ENSP00000078445:L299I	L	+	1	0	CREB3L3	4122092	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	3.517000	0.53443	2.303000	0.77524	0.561000	0.74099	CTC		0.602	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		3	73	0	0	0	1	0	3	73					A	4171092	C	A	4171092	3	1	359	1	0	0	0	0	1	0	0	0	3858	681	24	4	925	4	CREB3L3	19	4171092	Missense_Mutation	SNP	C	TCGA-FK-A3SH-01A-11D-A22D-08		4171092	54957891	26	6150											
DNTTIP1	116092	broad.mit.edu	37	20	44420653	44420653	+	Missense_Mutation	SNP	A	A	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr20:44420653A>T	ENST00000372622.3	+	1	78	c.10A>T	c.(10-12)Act>Tct	p.T4S	WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000372630.2_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	4						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CATGGGAGCCACTGGCGACGC	0.741																																						uc002xpk.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(10-12)Act>Tct		Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.							3	4	4					20																	44420653		1479	3316	4795	SO:0001583	missense	116092					nucleus		g.chr20:44420653A>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.10A>T	20.37:g.44420653A>T	ENSP00000361705:p.Thr4Ser		Somatic				WFDC3_uc002xpf.1_5'Flank|WFDC3_uc002xpj.1_5'Flank|WFDC3_uc002xph.1_5'Flank|WFDC3_uc010ghh.1_5'Flank	p.T4S	NM_052951	NP_443183	WXS	Illumina GAIIx	Phase_I	Q9H147	TDIF1_HUMAN			0	78	+		Myeloproliferative disorder(115;0.0122)	4					B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.10A>T	CCDS13369.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470129	0.84533	.	.	ENSG00000101457	ENST00000372622	T	0.46063	0.88	5.22	4.05	0.47172	.	0.462189	0.24165	N	0.040949	T	0.26666	0.0652	N	0.08118	0	0.26151	N	0.980135	D	0.56287	0.975	P	0.49953	0.627	T	0.06463	-1.0825	10	0.15952	T	0.53	-14.7002	8.6983	0.34310	0.8078:0.1922:0.0:0.0	.	4	Q9H147	TDIF1_HUMAN	S	4	ENSP00000361705:T4S	ENSP00000361705:T4S	T	+	1	0	DNTTIP1	43854060	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.582000	0.36568	2.082000	0.62665	0.455000	0.32223	ACT		0.741	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		5	3	0	0	0	1	0	5	3					T	44420653	A	T	44420653	3	4	359	1	0	0	0	0	1	0	0	0	4681	159	6	5	12	5	DNTTIP1	20	44420653	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		44420653	18604867	27	6151											
NHSL2	340527	broad.mit.edu	37	X	71360504	71360504	+	Missense_Mutation	SNP	A	A	C			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:71360504A>C	ENST00000373677.1	+	2	3270	c.2008A>C	c.(2008-2010)Atc>Ctc	p.I670L	NHSL2_ENST00000535692.1_Missense_Mutation_p.I670L|NHSL2_ENST00000540800.1_Missense_Mutation_p.I1036L|NHSL2_ENST00000510661.1_Missense_Mutation_p.I805L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	670								p.I667V(1)|p.I1036V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCTCAGCCCCATCATCACCCT	0.557																																						uc011mqa.2																			2	Substitution - Missense(2)	p.I667V(1)|p.I1036V(1)	kidney(2)	NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(3106-3108)Atc>Ctc		Homo sapiens NHS-like 2 (NHSL2), mRNA.							54	53	53					X																	71360504		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360504A>C			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2008A>C	X.37:g.71360504A>C	ENSP00000362781:p.Ile670Leu		Somatic				NHSL2_uc004eak.1_Missense_Mutation_p.I670L|NHSL2_uc010nli.2_Missense_Mutation_p.I805L	p.I1036L	NM_001013627	NP_001013649	WXS	Illumina GAIIx	Phase_I	F5H593	F5H593_HUMAN			5	3106	+	Renal(35;0.156)		1036					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.3106A>C		.	.	.	.	.	.	.	.	.	.	A	17.84	3.487173	0.63962	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.55413	1.37;0.58;0.52;0.58	6.08	6.08	0.98989	.	0.065234	0.64402	D	0.000016	T	0.67571	0.2907	L	0.54323	1.7	0.36385	D	0.862173	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.75722	-0.3218	10	0.72032	D	0.01	-14.7661	13.2767	0.60191	1.0:0.0:0.0:0.0	.	1036;805;670	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	1036;670;805;670	ENSP00000444617:I1036L;ENSP00000362781:I670L;ENSP00000424079:I805L;ENSP00000444914:I670L	ENSP00000362781:I670L	I	+	1	0	NHSL2	71277229	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.629000	0.46485	2.044000	0.60594	0.486000	0.48141	ATC		0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		8	75	0	0	0	1	0	8	75					C	71360504	A	C	71360504	3	2	359	1	0	0	0	0	1	0	0	0	10412	217	8	5	3128	5	NHSL2	23	71360504	Missense_Mutation	SNP	A	TCGA-FK-A3SH-01A-11D-A22D-08		71360504	83910056	28	6152											
BTK	695	broad.mit.edu	37	X	100630267	100630267	+	Silent	SNP	G	G	A	rs372818780		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:100630267G>A	ENST00000308731.7	-	2	169	c.6C>T	c.(4-6)gcC>gcT	p.A2A	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.A2A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	2					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATCACTGCGGCCATAGCTT	0.468									Agammaglobulinemia, X-linked																													uc010nno.2																			0		p.H35N(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(106-108)gcC>gcT		Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.							130	119	123					X																	100630267		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630267G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.6C>T	X.37:g.100630267G>A			Somatic				BTK_uc004ehg.2_Silent_p.A2A|BTK_uc010nnn.2_Silent_p.A2A|BTK_uc004ehi.3_Silent_p.A2A	p.A36A	NM_000061	NP_000052	WXS	Illumina GAIIx	Phase_I	Q06187	BTK_HUMAN			1	341	-			2			PH.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.108C>T	CCDS14482.1																																																																																				0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		9	111	0	0	0	1	0	9	111					A	100630267	G	A	100630267	2	1	359	1	0	0	0	0	0	0	0	1	1557	1103	39	1		1	BTK	23	100630267	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	29269763	100630267	54640293	29	6153											
BCORL1	63035	broad.mit.edu	37	X	129148839	129148839	+	Silent	SNP	G	G	A	rs199575306		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:129148839G>A	ENST00000218147.7	+	4	2288	c.2091G>A	c.(2089-2091)ggG>ggA	p.G697G	BCORL1_ENST00000359304.2_Silent_p.G697G|BCORL1_ENST00000303743.5_Silent_p.G697G|BCORL1_ENST00000540052.1_Silent_p.G697G			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	697					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGAATGGGGACCCGAGCA	0.607																																						uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2089-2091)ggG>ggA		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							81	65	70					X																	129148839		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148839G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2091G>A	X.37:g.129148839G>A			Somatic				BCORL1_uc010nrd.1_Silent_p.G599G	p.G697G	NM_021946	NP_068765	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			2	2135	+			697					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2091G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.979	-0.697720	0.03279	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.28	-3.08	0.05347	.	0.000000	0.37012	N	0.002288	T	0.43875	0.1267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27434	-1.0074	6	0.42905	T	0.14	-15.216	2.5454	0.04736	0.4216:0.1838:0.2965:0.0981	.	.	.	.	R	133	.	ENSP00000416520:G133R	G	+	1	0	BCORL1	128976520	0.993000	0.37304	0.752000	0.31206	0.538000	0.34931	0.175000	0.16762	-0.869000	0.04052	0.436000	0.28706	GGA		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	121	0	0	0	1	0	3	121					A	129148839	G	A	129148839	2	1	359	1	0	0	0	0	0	0	0	1	1387	1219	43	2		2	BCORL1	23	129148839	Silent	SNP	G	TCGA-FK-A3SH-01A-11D-A22D-08	28518572	129148839	26121721	30	6154											
STK38	11329	broad.mit.edu	37	6	36475299	36475299	+	Silent	SNP	G	G	A			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr6:36475299G>A	ENST00000229812.7	-	8	1035	c.750C>T	c.(748-750)aaC>aaT	p.N250N	Z85986.1_ENST00000583113.1_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGGCTGTGGTTCAGATTCC	0.418																																					Colon(180;997 3561 16158)	uc003omg.3																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(748-750)aaC>aaT		Homo sapiens serine/threonine kinase 38 (STK38), mRNA.							288	303	298					6																	36475299		2203	4300	6503	SO:0001819	synonymous_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36475299G>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.750C>T	6.37:g.36475299G>A			Somatic				STK38_uc003omh.3_Silent_p.N250N|STK38_uc003omi.3_Silent_p.N250N	p.N250N	NM_007271	NP_009202	WXS	Illumina GAIIx	Phase_I	Q15208	STK38_HUMAN			6	1338	-			250			Protein kinase.			Silent	SNP	ENST00000229812.7	37	c.750C>T	CCDS4822.1																																																																																				0.418	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		114	171	0	0	0	1	0	114	171					A	36475299	G	A	36475299	2	1	360	1	0	0	0	0	0	0	0	1	15302	1252	44	2		2	STK38	6	36475299	Silent	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		36475299	134639768	1	6155											
DLGAP2	9228	broad.mit.edu	37	8	1649537	1649537	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr8:1649537G>A	ENST00000421627.2	+	12	3027	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1044					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.E973K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACAGCATCGAGATCTACAT	0.716																																						uc003wpl.3																			1	Substitution - Missense(1)	p.E973K(1)	NS(1)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2893-2895)Gag>Aag		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							12	16	14					8																	1649537		2191	4295	6486	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1649537G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2893G>A	8.37:g.1649537G>A	ENSP00000400258:p.Glu965Lys		Somatic				DLGAP2_uc003wpm.3_Missense_Mutation_p.E951K	p.E965K	NM_004745	NP_004736	WXS	Illumina GAIIx	Phase_I	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2990	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	1044					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2893G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	37	6.346695	0.97494	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.21734	1.99	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.86864	2.845	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62300	-0.6883	10	0.87932	D	0	-19.4228	19.3914	0.94584	0.0:0.0:1.0:0.0	.	1030;1044	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	K	996;965	ENSP00000400258:E965K	ENSP00000348366:E996K	E	+	1	0	DLGAP2	1636944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.302000	0.96175	2.587000	0.87381	0.491000	0.48974	GAG		0.716	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	4	0	0	0	1	0	4	4					A	1649537	G	A	1649537	3	1	360	1	0	0	0	0	1	0	0	0	4560	1059	37	1	2935	1	DLGAP2	8	1649537	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		1649537	144714485	2	6156											
HPS1	3257	broad.mit.edu	37	10	100189586	100189586	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr10:100189586G>A	ENST00000325103.6	-	9	1062	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	HPS1_ENST00000338546.5_Missense_Mutation_p.H277Y|HPS1_ENST00000467246.1_Intron|MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000361490.4_Missense_Mutation_p.H277Y	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	277					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCCGTGGAGTGAGGGCTCCAG	0.677									Hermansky-Pudlak syndrome																													uc021pwv.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(829-831)Cac>Tac		Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.							78	82	81					10																	100189586		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189586G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.829C>T	10.37:g.100189586G>A	ENSP00000326649:p.His277Tyr		Somatic				HPS1_uc009xwb.3_Intron|HPS1_uc010qph.1_Missense_Mutation_p.H277Y|HPS1_uc001kpl.3_Missense_Mutation_p.H277Y	p.H277Y	NM_000195	NP_000186	WXS	Illumina GAIIx	Phase_I	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	8	1075	-		Colorectal(252;0.234)	277					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.829C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927202	0.34002	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000338546	T;T;T	0.42513	1.57;1.57;0.97	5.0	-10.0	0.00425	.	3.210380	0.00714	N	0.000853	T	0.28632	0.0709	L	0.36672	1.1	0.09310	N	1	P;P;P	0.39376	0.482;0.666;0.67	B;B;B	0.37833	0.259;0.162;0.245	T	0.43245	-0.9403	10	0.54805	T	0.06	.	6.0983	0.20033	0.2265:0.5309:0.0924:0.1502	.	277;277;277	Q92902;Q92902-3;D3DR62	HPS1_HUMAN;.;.	Y	277	ENSP00000326649:H277Y;ENSP00000355310:H277Y;ENSP00000343638:H277Y	ENSP00000326649:H277Y	H	-	1	0	HPS1	100179576	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-1.766000	0.01797	-3.014000	0.00272	0.561000	0.74099	CAC		0.677	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		7	90	0	0	0	1	0	7	90					A	100189586	G	A	100189586	3	1	360	1	0	0	0	0	1	0	0	0	7339	1290	45	2	1359	2	HPS1	10	100189586	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		100189586	35345161	3	6157											
SLC23A2	9962	broad.mit.edu	37	20	4839991	4839991	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chr20:4839991G>T	ENST00000379333.1	-	16	2056	c.1664C>A	c.(1663-1665)aCa>aAa	p.T555K	SLC23A2_ENST00000424750.2_Missense_Mutation_p.T441K|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T555K	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	555					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CATAGCAGTTGTGAGAAGGAC	0.433																																						uc002wlg.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1663-1665)aCa>aAa		Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.							175	156	162					20																	4839991		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4839991G>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1664C>A	20.37:g.4839991G>T	ENSP00000368637:p.Thr555Lys		Somatic				SLC23A2_uc010zqr.1_Missense_Mutation_p.T440K|SLC23A2_uc002wlh.1_Missense_Mutation_p.T555K	p.T555K	NM_005116	NP_976072	WXS	Illumina GAIIx	Phase_I	Q9UGH3	S23A2_HUMAN			15	2039	-			555					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1664C>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598389	0.66332	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.18174	2.23;2.23;2.27	5.08	5.08	0.68730	.	0.092067	0.85682	D	0.000000	T	0.32645	0.0836	L	0.39633	1.23	0.80722	D	1	D;D	0.69078	0.981;0.997	D;P	0.69824	0.966;0.907	T	0.00514	-1.1695	10	0.33141	T	0.24	-20.3644	17.5691	0.87930	0.0:0.0:1.0:0.0	.	441;555	B4DJZ1;Q9UGH3	.;S23A2_HUMAN	K	555;555;441	ENSP00000368637:T555K;ENSP00000344322:T555K;ENSP00000406601:T441K	ENSP00000344322:T555K	T	-	2	0	SLC23A2	4787991	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.100000	0.94213	2.813000	0.96785	0.655000	0.94253	ACA		0.433	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			36	85	0	0	0	1	0	36	85					T	4839991	G	T	4839991	3	4	360	1	0	0	0	0	1	0	0	0	14463	1377	48	4	296	4	SLC23A2	20	4839991	Missense_Mutation	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08		4839991	58185529	4	6158											
ESX1	80712	broad.mit.edu	37	X	103498972	103498972	+	Silent	SNP	C	C	T			TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chrX:103498972C>T	ENST00000372588.4	-	2	452	c.369G>A	c.(367-369)ccG>ccA	p.P123P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	123					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCCCCTCCGCCGGCTGTGGCC	0.682																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.3																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(367-369)ccG>ccA		Homo sapiens ESX homeobox 1 (ESX1), mRNA.							25	27	26					X																	103498972		2196	4290	6486	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498972C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.369G>A	X.37:g.103498972C>T			Somatic					p.P123P	NM_153448	NP_703149	WXS	Illumina GAIIx	Phase_I	Q8N693	ESX1_HUMAN			1	438	-			123					B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.369G>A	CCDS14516.1																																																																																				0.682	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		8	50	0	0	0	1	0	8	50					T	103498972	C	T	103498972	2	4	360	1	0	0	0	0	0	0	0	1	5263	639	23	1		1	ESX1	23	103498972	Silent	SNP	C	TCGA-FY-A2QD-01A-11D-A19J-08		103498972	51771588	5	6159											
MECP2	4204	broad.mit.edu	37	X	153296900	153296900	+	Splice_Site	SNP	G	G	A	rs267608466		TCGA-FY-A2QD-01A-11D-A19J-08	TCGA-FY-A2QD-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7335a24-e5fc-4558-9eba-511c5a802320	7aeb39cd-79b5-4b8b-b801-9ea170d402c5	g.chrX:153296900G>A	ENST00000303391.6	-	4	628	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	MECP2_ENST00000407218.1_Splice_Site_p.P127S|MECP2_ENST00000453960.2_Splice_Site_p.P139S|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	127	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|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)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCTGGGGACTGTGGGGA	0.488																																						uc004fjw.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.e3-1		Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA.							70	69	70					X																	153296900		2203	4300	6503	SO:0001630	splice_region_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity	g.chrX:153296900G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.378-1C>T	X.37:g.153296900G>A			Somatic				MECP2_uc004fjv.2_Splice_Site_p.N126_splice	p.N138_splice	NM_001110792	NP_001104262	WXS	Illumina GAIIx	Phase_I	P51608	MECP2_HUMAN			3	480	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		126			MBD.		O15233|Q6QHH9|Q7Z384	Splice_Site	SNP	ENST00000303391.6	37	c.414_splice	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807971	0.50421	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218	D;D;D	0.99980	-10.21;-10.21;-10.21	5.24	5.24	0.73138	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.055461	0.64402	D	0.000001	D	0.99966	0.9987	M	0.84948	2.725	0.80722	D	1	B;B	0.33694	0.368;0.421	B;P	0.44897	0.333;0.463	D	0.89826	0.3992	10	0.48119	T	0.1	-15.7176	16.5773	0.84705	0.0:0.0:1.0:0.0	.	139;127	P51608-2;P51608	.;MECP2_HUMAN	S	127;127;139;127;127	ENSP00000301948:P127S;ENSP00000395535:P139S;ENSP00000384865:P127S	ENSP00000301948:P127S	P	-	1	0	MECP2	152950094	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.103000	0.77014	2.172000	0.68678	0.600000	0.82982	CCC		0.488	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992	Missense_Mutation	8	73	0	0	0	1	0	8	73					A	153296900	G	A	153296900	5	1	360	1	0	0	0	0	0	0	1	0	9423	1188	41	2	1085	2	MECP2	23	153296900	Splice_Site	SNP	G	TCGA-FY-A2QD-01A-11D-A19J-08	49797928	153296900	1973660	6	6160											
RXFP1	59350	broad.mit.edu	37	4	159568291	159568291	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr4:159568291C>T	ENST00000307765.5	+	16	1945	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L	RXFP1_ENST00000470033.1_Missense_Mutation_p.P532L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P484L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P460L|RXFP1_ENST00000343542.5_Missense_Mutation_p.P517L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	565					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTATGCTTCCCTCTTCATTCA	0.333																																						uc011cje.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1774-1776)cCt>cTt		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 2, mRNA.							70	66	67					4																	159568291		1825	4081	5906	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568291C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1694C>T	4.37:g.159568291C>T	ENSP00000303248:p.Pro565Leu		Somatic				RXFP1_uc010iqk.3_Missense_Mutation_p.P433L|RXFP1_uc011cja.2_Missense_Mutation_p.P460L|RXFP1_uc010iqo.3_Missense_Mutation_p.P517L|RXFP1_uc011cjb.2_Missense_Mutation_p.P463L|RXFP1_uc011cjc.2_Missense_Mutation_p.P484L|RXFP1_uc011cjd.2_Missense_Mutation_p.P484L|RXFP1_uc010iql.3_Missense_Mutation_p.P409L|RXFP1_uc003ipz.3_Missense_Mutation_p.P565L|RXFP1_uc010iqm.3_Missense_Mutation_p.P532L|RXFP1_uc011cjf.2_Missense_Mutation_p.P434L|RXFP1_uc010iqn.3_Missense_Mutation_p.P510L	p.P592L	NM_001253727	NP_001240656	WXS	Illumina GAIIx	Phase_I	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	15	2038	+	all_hematologic(180;0.24)	Renal(120;0.0854)	565					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1775C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159348	0.94686	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.048227	0.85682	D	0.000000	T	0.72078	0.3416	M	0.93638	3.44	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	1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0	T	0.79235	-0.1887	10	0.87932	D	0	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	576;592;460;517;532;484;435;565	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	484;565;460;517;532;435	ENSP00000423306:P484L;ENSP00000303248:P565L;ENSP00000414885:P460L;ENSP00000345889:P517L;ENSP00000420712:P532L	ENSP00000303248:P565L	P	+	2	0	RXFP1	159787741	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.747000	0.85070	2.720000	0.93068	0.650000	0.86243	CCT		0.333	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		30	36	0	0	0	1	0	30	36					T	159568291	C	T	159568291	3	4	361	1	0	0	0	0	1	0	0	0	13759	681	24	2	1756	2	RXFP1	4	159568291	Missense_Mutation	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08		159568291	31585985	1	6161											
TBCC	6903	broad.mit.edu	37	6	42713803	42713803	+	Silent	SNP	G	G	A	rs537953279		TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr6:42713803G>A	ENST00000372876.1	-	1	31	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000244625.2_Silent_p.S3S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													G|||	1	0.000199681	0	0	5008	,	,		12523	0		0.001	False		,,,				2504	0					uc003osl.3																			1	Substitution - coding silent(1)	p.S3S(2)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(7-9)tcC>tcT		Homo sapiens tubulin folding cofactor C (TBCC), mRNA.							41	42	41					6																	42713803		2202	4299	6501	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	GTPase activity|chaperone binding	g.chr6:42713803G>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.9C>T	6.37:g.42713803G>A			Somatic					p.S3S	NM_003192	NP_003183	WXS	Illumina GAIIx	Phase_I	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		0	82	-	Colorectal(47;0.196)		3					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.9C>T	CCDS4872.1																																																																																				0.617	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		6	52	0	0	0	1	0	6	52					A	42713803	G	A	42713803	2	1	361	1	0	0	0	0	0	0	0	1	15628	1103	39	1		1	TBCC	6	42713803	Silent	SNP	G	TCGA-FY-A3BL-01A-11D-A19J-08		42713803	128401264	2	6162											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	38	0	0	0	1	0	29	38					T	140453136	A	T	140453136	3	4	361	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08		140453136	18685527	3	6163											
ZW10	9183	broad.mit.edu	37	11	113644351	113644351	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr11:113644351C>T	ENST00000200135.3	-	1	182	c.38G>A	c.(37-39)gGg>gAg	p.G13E	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	13	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTCCAGCCTCCCGGAGTGTGC	0.642																																						uc001poe.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(37-39)gGg>gAg		Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.							61	63	62					11																	113644351		2201	4296	6497	SO:0001583	missense	9183				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113644351C>T	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.38G>A	11.37:g.113644351C>T	ENSP00000200135:p.Gly13Glu		Somatic				ZW10_uc009yyv.3_Non-coding_Transcript	p.G13E	NM_004724	NP_004715	WXS	Illumina GAIIx	Phase_I	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	0	135	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	13			Interaction with RINT1.|Interaction with ZWINT.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.38G>A	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224134	0.95139	.	.	ENSG00000086827	ENST00000200135	T	0.45276	0.9	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67868	-0.5559	10	0.72032	D	0.01	-16.9764	18.0649	0.89388	0.0:1.0:0.0:0.0	.	13	O43264	ZW10_HUMAN	E	13	ENSP00000200135:G13E	ENSP00000200135:G13E	G	-	2	0	ZW10	113149561	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.032000	0.70918	2.601000	0.87937	0.491000	0.48974	GGG		0.642	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		23	43	0	0	0	1	0	23	43					T	113644351	C	T	113644351	3	4	361	1	0	0	0	0	1	0	0	0	18244	623	22	2	2365	2	ZW10	11	113644351	Missense_Mutation	SNP	C	TCGA-FY-A3BL-01A-11D-A19J-08		113644351	21362165	4	6164											
MLL	4297	broad.mit.edu	37	11	118375798	118375798	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr11:118375798A>G	ENST00000389506.5	+	27	9182	c.9182A>G	c.(9181-9183)aAt>aGt	p.N3061S	KMT2A_ENST00000534358.1_Missense_Mutation_p.N3064S|KMT2A_ENST00000354520.4_Missense_Mutation_p.N3023S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3061					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAGATTTCCAATGCAGCTGTC	0.502																																						uc001ptb.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(9190-9192)aAt>aGt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							107	102	103					11																	118375798		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375798A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9182A>G	11.37:g.118375798A>G	ENSP00000374157:p.Asn3061Ser		Somatic				MLL_uc001pta.3_Missense_Mutation_p.N3061S	p.N3064S	NM_001197104	NP_001184033	WXS	Illumina GAIIx	Phase_I	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	9214	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3061					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9191A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	6.241	0.412576	0.11812	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.81330	-1.48;-1.48;-1.45	6.08	6.08	0.98989	.	0.104961	0.64402	D	0.000001	T	0.63390	0.2507	N	0.19112	0.55	0.37515	D	0.917302	B;B	0.27229	0.172;0.172	B;B	0.16289	0.015;0.015	T	0.62932	-0.6749	10	0.09338	T	0.73	.	10.9084	0.47094	0.9305:0.0:0.0695:0.0	.	3064;3061	E9PQG7;Q03164	.;MLL1_HUMAN	S	3064;3061;3023;1971	ENSP00000436786:N3064S;ENSP00000374157:N3061S;ENSP00000346516:N3023S	ENSP00000346516:N3023S	N	+	2	0	MLL	117881008	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.416000	0.52707	2.333000	0.79357	0.482000	0.46254	AAT		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		31	126	0	0	0	1	0	31	126					G	118375798	A	G	118375798	3	3	361	1	0	0	0	0	1	0	0	0	9620	101	4	3	9288	3	MLL	11	118375798	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08	4731447	118375798	16630718	5	6165											
C12orf66	144577	broad.mit.edu	37	12	64615867	64615867	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3BL-01A-11D-A19J-08	TCGA-FY-A3BL-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d	a8cbca5d-503d-4484-928b-ae5d9a9726a3	g.chr12:64615867A>G	ENST00000398055.3	-	1	204	c.151T>C	c.(151-153)Tgg>Cgg	p.W51R	C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000311915.8_Missense_Mutation_p.W51R|C12orf66_ENST00000544871.1_Intron|RPS11P6_ENST00000535684.1_RNA	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	51										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGCGACAGCCAGCTGCCCCCC	0.622																																						uc001srw.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(151-153)Tgg>Cgg		Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.							31	36	34					12																	64615867		1989	4166	6155	SO:0001583	missense	144577							g.chr12:64615867A>G		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.151T>C	12.37:g.64615867A>G	ENSP00000381132:p.Trp51Arg		Somatic				BC042855_uc001srx.3_5'Flank	p.W51R	NM_152440	NP_689653	WXS	Illumina GAIIx	Phase_I	Q96MD2	CL066_HUMAN			0	210	-			51					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.151T>C	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782308	0.90282	.	.	ENSG00000174206	ENST00000311915;ENST00000398055	T;T	0.44482	0.92;0.92	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62723	-0.6794	9	.	.	.	-5.796	14.6497	0.68786	1.0:0.0:0.0:0.0	.	51	Q96MD2	CL066_HUMAN	R	51	ENSP00000311486:W51R;ENSP00000381132:W51R	.	W	-	1	0	C12orf66	62902134	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.790000	0.75115	2.044000	0.60594	0.459000	0.35465	TGG		0.622	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		3	21	0	0	0	1	0	3	21					G	64615867	A	G	64615867	3	3	361	1	0	0	0	0	1	0	0	0	1709	188	7	3	1198	3	C12orf66	12	64615867	Missense_Mutation	SNP	A	TCGA-FY-A3BL-01A-11D-A19J-08		64615867	69236028	6	6166											
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					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)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	8e-04	0	5008	,	,		13350	0		0	False		,,,				2504	0.001					uc010icw.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		Homo sapiens HGF activator (HGFAC), mRNA.							13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G			Somatic				HGFAC_uc003ghc.3_Silent_p.L23L	p.L23L	NM_001528	NP_001519	WXS	Illumina GAIIx	Phase_I	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	0	72	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	38	0	0	0	1	0	3	38					G	3443797	C	G	3443797	2	3	362	1	0	0	0	0	0	0	0	1	7086	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08		3443797	187710479	1	6167											
ZNF92	168374	broad.mit.edu	37	7	64853813	64853813	+	Splice_Site	SNP	A	A	G			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr7:64853813A>G	ENST00000328747.7	+	3	424	c.225A>G	c.(223-225)ccA>ccG	p.P75P	ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000450302.2_Splice_Site_p.P6P	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ACAAAACCCCAGGTAGGTGAC	0.448																																						uc003ttz.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.e3+1		Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.							93	97	96					7																	64853813		2203	4300	6503	SO:0001630	splice_region_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64853813A>G	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.226+1A>G	7.37:g.64853813A>G			Somatic				ZNF92_uc003tua.3_Splice_Site_p.V7_splice|ZNF92_uc010kzu.3_Intron|ZNF92_uc003tub.3_Intron	p.V76_splice	NM_152626	NP_009070	WXS	Illumina GAIIx	Phase_I	Q03936	ZNF92_HUMAN			3	369	+		Lung NSC(55;0.159)	76					A6NNF9|Q8N492|Q8NB35	Splice_Site	SNP	ENST00000328747.7	37	c.226_splice	CCDS34646.1																																																																																				0.448	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626	Silent	3	73	0	0	0	1	0	3	73					G	64853813	A	G	64853813	5	3	362	1	0	0	0	0	0	0	1	0	18198	202	7	3	235	3	ZNF92	7	64853813	Splice_Site	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08		64853813	94284850	2	6168											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	61	0	0	0	1	0	15	61					T	140453136	A	T	140453136	3	4	362	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08	75599323	140453136	18685527	3	6169											
NUP214	8021	broad.mit.edu	37	9	134072930	134072930	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr9:134072930A>G	ENST00000359428.5	+	29	4193	c.4049A>G	c.(4048-4050)aAt>aGt	p.N1350S	NUP214_ENST00000451030.1_Missense_Mutation_p.N1351S|NUP214_ENST00000411637.2_Missense_Mutation_p.N1340S|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Missense_Mutation_p.N176S			P35658	NU214_HUMAN	nucleoporin 214kDa	1350	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAACCAACCAATAAGGCTTCA	0.512			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4048-4050)aAt>aGt		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							114	117	116					9																	134072930		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134072930A>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4049A>G	9.37:g.134072930A>G	ENSP00000352400:p.Asn1350Ser		Somatic				NUP214_uc004cah.3_Missense_Mutation_p.N1340S|NUP214_uc004cai.3_Missense_Mutation_p.N780S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.N176S|NUP214_uc011mcf.1_Missense_Mutation_p.N127S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	p.N1350S	NM_005085	NP_005076	WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	28	4160	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1350			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4049A>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	0.700	-0.791255	0.02884	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.38240	1.82;1.81;1.81;1.15;1.25	5.4	2.51	0.30379	.	0.397228	0.21722	N	0.070101	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.29243	-1.0018	10	0.09084	T	0.74	0.0294	4.6677	0.12673	0.1667:0.0:0.5124:0.3209	.	176;779;944;1340;1350	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	S	1350;1340;1351;1329;944;779;176;127;127	ENSP00000352400:N1350S;ENSP00000396576:N1340S;ENSP00000405014:N1351S;ENSP00000436793:N176S;ENSP00000435364:N127S	ENSP00000352400:N1350S	N	+	2	0	NUP214	133062751	0.000000	0.05858	0.562000	0.28370	0.681000	0.39784	0.173000	0.16724	0.231000	0.21079	-0.366000	0.07423	AAT		0.512	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		13	103	0	0	0	1	0	13	103					G	134072930	A	G	134072930	3	3	362	1	0	0	0	0	1	0	0	0	10762	101	4	3	4163	3	NUP214	9	134072930	Missense_Mutation	SNP	A	TCGA-FY-A3I4-01A-11D-A21A-08		134072930	7140501	4	6170											
NAT10	55226	broad.mit.edu	37	11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr11:34149080T>C	ENST00000257829.3	+	12	1384	c.1178T>C	c.(1177-1179)aTc>aCc	p.I393T	NAT10_ENST00000531159.2_Missense_Mutation_p.I321T|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	393						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCTGCCGCCATCCCCCTCCCC	0.502																																						uc001mvk.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1177-1179)aTc>aCc		Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.							177	161	167					11																	34149080		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34149080T>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1178T>C	11.37:g.34149080T>C	ENSP00000257829:p.Ile393Thr		Somatic				NAT10_uc010ren.2_Missense_Mutation_p.I321T	p.I393T	NM_024662	NP_078938	WXS	Illumina GAIIx	Phase_I	Q9H0A0	NAT10_HUMAN			11	1422	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	393					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.1178T>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860396	0.91433	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.59638	0.25;0.25	5.99	5.99	0.97316	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90266	0.4304	10	0.87932	D	0	-23.1049	16.4943	0.84223	0.0:0.0:0.0:1.0	.	393	Q9H0A0	NAT10_HUMAN	T	393;321	ENSP00000257829:I393T;ENSP00000433011:I321T	ENSP00000257829:I393T	I	+	2	0	NAT10	34105656	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.581000	0.82535	2.291000	0.77112	0.533000	0.62120	ATC		0.502	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		4	177	0	0	0	1	0	4	177					C	34149080	T	C	34149080	3	2	362	1	0	0	0	0	1	0	0	0	10174	1435	50	3	1220	3	NAT10	11	34149080	Missense_Mutation	SNP	T	TCGA-FY-A3I4-01A-11D-A21A-08		34149080	100857436	5	6171											
CASC3	22794	broad.mit.edu	37	17	38318284	38318284	+	Silent	SNP	G	G	A	rs566068214		TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr17:38318284G>A	ENST00000264645.7	+	5	712	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	162	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				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)	p.V162V(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGAACAAAGTGGGTAAAAAGG	0.468																																						uc010cwt.1																			1	Substitution - coding silent(1)	p.V162V(2)	kidney(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(484-486)gtG>gtA		Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.							75	78	77					17																	38318284		2203	4300	6503	SO:0001819	synonymous_variant	22794				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding	g.chr17:38318284G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.486G>A	17.37:g.38318284G>A			Somatic				CASC3_uc010cws.1_Silent_p.V162V|CASC3_uc002hue.3_Silent_p.V162V	p.V162V	NM_007359	NP_031385	WXS	Illumina GAIIx	Phase_I	O15234	CASC3_HUMAN			4	781	+			162			Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.		A8K8R0	Silent	SNP	ENST00000264645.7	37	c.486G>A	CCDS11362.1																																																																																				0.468	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		7	40	0	0	0	1	0	7	40					A	38318284	G	A	38318284	2	1	362	1	0	0	0	0	0	0	0	1	2661	1335	47	2		2	CASC3	17	38318284	Silent	SNP	G	TCGA-FY-A3I4-01A-11D-A21A-08		38318284	42876926	6	6172											
ZNF578	147660	broad.mit.edu	37	19	53014631	53014631	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chr19:53014631C>G	ENST00000421239.2	+	6	1241	c.997C>G	c.(997-999)Cat>Gat	p.H333D	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	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)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTTACATGCCATCATAGGTG	0.428																																						uc002pzp.4																			0											c.(997-999)Cat>Gat		Homo sapiens zinc finger protein 578 (ZNF578), mRNA.							112	114	113					19																	53014631		2200	4300	6500	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014631C>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.997C>G	19.37:g.53014631C>G	ENSP00000459216:p.His333Asp		Somatic					p.H333D	NM_001099694	NP_001093164	WXS	Illumina GAIIx	Phase_I	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	1241	+			108					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.997C>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	10.06	1.248138	0.22880	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	T	0.69214	0.3086	H	0.97214	3.96	0.20403	N	0.999908	B	0.06786	0.001	B	0.08055	0.003	T	0.65529	-0.6146	7	.	.	.	.	10.0458	0.42186	0.0:1.0:0.0:0.0	.	333	G3V4F6	.	D	333	.	.	H	+	1	0	ZNF578	57706443	0.991000	0.36638	0.001000	0.08648	0.011000	0.07611	3.772000	0.55325	0.835000	0.34877	0.297000	0.19635	CAT		0.428	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		20	94	0	0	0	1	0	20	94					G	53014631	C	G	53014631	3	3	362	1	0	0	0	0	1	0	0	0	18007	594	21	4	1007	4	ZNF578	19	53014631	Missense_Mutation	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08		53014631	6114352	7	6173											
APOOL	139322	broad.mit.edu	37	X	84322155	84322155	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chrX:84322155delT	ENST00000373173.2	+	6	504	c.417delT	c.(415-417)actfs	p.T139fs		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	139						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAAAATTACTTATCCTCTGG	0.333																																						uc004eem.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(415-417)actfs		Homo sapiens apolipoprotein O-like (APOOL), mRNA.							38	32	34					X																	84322155		1735	3883	5618	SO:0001589	frameshift_variant	139322					extracellular region		g.chrX:84322155delT	AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"chromosome X open reading frame 33", "family with sequence similarity 121A"	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.417delT	X.37:g.84322155delT	ENSP00000362268:p.Thr139fs		Somatic				APOOL_uc010nmp.3_Intron	p.T139fs	NM_198450	NP_940852	WXS	Illumina GAIIx	Phase_I	Q6UXV4	APOOL_HUMAN			5	438	+			139					Q3KNU7|Q5H9D1	Frame_Shift_Del	DEL	ENST00000373173.2	37	c.417delT	CCDS48138.1																																																																																				0.333	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		2	4						2	4	---	---	---	---	-	84322155	T	-	84322155	7	5	362	1	0	1	0	1	0	0	0	0	814	1596	56	0	439	0	APOOL	23	84322155	Frame_Shift_Del	DEL	T	TCGA-FY-A3I4-01A-11D-A21A-08		84322155	70948405	8	6174											
SMARCA1	6594	broad.mit.edu	37	X	128649760	128649760	+	Silent	SNP	C	C	G			TCGA-FY-A3I4-01A-11D-A21A-08	TCGA-FY-A3I4-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e087d096-3086-4705-a308-75f12f9487eb	a40b24b5-781b-44cf-9d3c-499ddd16136e	g.chrX:128649760C>G	ENST00000371122.4	-	5	663	c.534G>C	c.(532-534)gtG>gtC	p.V178V	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Silent_p.V178V|SMARCA1_ENST00000371121.3_Silent_p.V178V	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	178					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GCCCCCCTTTCACATCTGGTG	0.343																																						uc011muk.1																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(532-534)gtG>gtC		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.							65	62	63					X																	128649760		2203	4300	6503	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128649760C>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.534G>C	X.37:g.128649760C>G			Somatic				SMARCA1_uc004eun.4_Silent_p.V178V|SMARCA1_uc004eup.4_Silent_p.V178V|SMARCA1_uc011mul.1_Silent_p.V178V|SNORD112_uc022cdt.1_5'Flank	p.V178V	NM_003069	NP_003060	WXS	Illumina GAIIx	Phase_I	P28370	SMCA1_HUMAN			4	647	-			178					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.534G>C	CCDS14612.1																																																																																				0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		15	66	0	0	0	1	0	15	66					G	128649760	C	G	128649760	2	3	362	1	0	0	0	0	0	0	0	1	14768	813	29	4		4	SMARCA1	23	128649760	Silent	SNP	C	TCGA-FY-A3I4-01A-11D-A21A-08	44327605	128649760	26620800	9	6175											
GBP2	2634	broad.mit.edu	37	1	89579760	89579760	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr1:89579760A>G	ENST00000370466.3	-	7	1356	c.1088T>C	c.(1087-1089)aTt>aCt	p.I363T	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	363					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAAGACTTCAATGGCCTCTCT	0.493																																						uc001dmz.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1087-1089)aTt>aCt		Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.							126	124	125					1																	89579760		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89579760A>G	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1088T>C	1.37:g.89579760A>G	ENSP00000359497:p.Ile363Thr		Somatic				GBP2_uc001dmy.1_Non-coding_Transcript	p.I363T	NM_004120	NP_004111	WXS	Illumina GAIIx	Phase_I	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	6	1359	-		Lung NSC(277;0.0908)	363					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1088T>C	CCDS719.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849324	0.32699	.	.	ENSG00000162645	ENST00000370466	T	0.02498	4.27	3.85	-1.68	0.08212	Guanylate-binding protein, C-terminal (3);	0.213930	0.29684	U	0.011471	T	0.01800	0.0057	L	0.55103	1.725	0.09310	N	1	P	0.43392	0.805	P	0.51415	0.669	T	0.41734	-0.9492	10	0.42905	T	0.14	-17.4424	5.0524	0.14514	0.4357:0.1704:0.3939:0.0	.	363	P32456	GBP2_HUMAN	T	363	ENSP00000359497:I363T	ENSP00000359497:I363T	I	-	2	0	GBP2	89352348	0.572000	0.26668	0.009000	0.14445	0.815000	0.46073	2.093000	0.41710	-0.446000	0.07149	-0.379000	0.06801	ATT		0.493	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		42	108	0	0	0	1	0	42	108					G	89579760	A	G	89579760	3	3	363	1	0	0	0	0	1	0	0	0	6274	101	4	3	707	3	GBP2	1	89579760	Missense_Mutation	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		89579760	159670861	1	6176											
ROBO2	6092	broad.mit.edu	37	3	77623657	77623657	+	Missense_Mutation	SNP	G	G	A	rs565768356		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:77623657G>A	ENST00000461745.1	+	14	2879	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	ROBO2_ENST00000487694.3_Missense_Mutation_p.R676H|ROBO2_ENST00000332191.8_Missense_Mutation_p.R660H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	660	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CAGGTTGATCGCCAACCCCAG	0.423													G|||	1	0.000199681	0	0	5008	,	,		19766	0.001		0	False		,,,				2504	0					uc003dpz.3																			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.(1990-1992)cGc>cAc		Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.							96	86	89					3																	77623657		1917	4108	6025	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.chr3:77623657G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1979G>A	3.37:g.77623657G>A	ENSP00000417164:p.Arg660His		Somatic				ROBO2_uc021xat.1_Missense_Mutation_p.R676H|ROBO2_uc003dpy.4_Missense_Mutation_p.R660H|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc011bgk.2_Missense_Mutation_p.R664H	p.R664H	NM_002942	NP_002933	WXS	Illumina GAIIx	Phase_I	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)	14	2634	+			660			Fibronectin type-III 2.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1991G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539340	0.65085	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.58060	0.36;0.36;0.36	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000329	T	0.57577	0.2063	M	0.69823	2.125	0.45648	D	0.998574	B;B;P	0.35908	0.327;0.175;0.527	B;B;B	0.36567	0.153;0.174;0.228	T	0.61004	-0.7150	9	0.44086	T	0.13	.	19.8397	0.96678	0.0:0.0:1.0:0.0	.	676;660;660	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	676;676;680;660;660;381	ENSP00000417335:R676H;ENSP00000417164:R660H;ENSP00000327536:R660H	ENSP00000327536:R660H	R	+	2	0	ROBO2	77706347	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.864000	0.99589	2.685000	0.91497	0.591000	0.81541	CGC		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		24	48	0	0	0	1	0	24	48					A	77623657	G	A	77623657	3	1	363	1	0	0	0	0	1	0	0	0	13514	1087	38	1	2035	1	ROBO2	3	77623657	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		77623657	120398773	2	6177											
ADPRH	141	broad.mit.edu	37	3	119305412	119305412	+	Silent	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr3:119305412A>G	ENST00000478399.1	+	3	1984	c.579A>G	c.(577-579)aaA>aaG	p.K193K	ADPRH_ENST00000478927.1_Silent_p.K193K|ADPRH_ENST00000357003.3_Silent_p.K193K|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.K193K			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	193					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGTGGGGAAAAGGACTGATGG	0.512																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.3																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(577-579)aaA>aaG		Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.							86	89	88					3																	119305412		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305412A>G	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.579A>G	3.37:g.119305412A>G			Somatic				ADPRH_uc010hqv.3_Silent_p.K193K|ADPRH_uc011bjb.2_Silent_p.K86K|ADPRH_uc003ect.3_Silent_p.K193K	p.K193K	NM_001125	NP_001116	WXS	Illumina GAIIx	Phase_I	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	877	+		Lung NSC(201;0.0977)	193					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.579A>G	CCDS2990.1																																																																																				0.512	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		3	107	0	0	0	1	0	3	107					G	119305412	A	G	119305412	2	3	363	1	0	0	0	0	0	0	0	1	331	69	3	3		3	ADPRH	3	119305412	Silent	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08	41681755	119305412	78717018	3	6178											
VDAC1	7416	broad.mit.edu	37	5	133311612	133311612	+	Missense_Mutation	SNP	G	G	A	rs375779223		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr5:133311612G>A	ENST00000265333.3	-	7	896	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	VDAC1_ENST00000395044.3_Missense_Mutation_p.R218C|VDAC1_ENST00000395047.2_Missense_Mutation_p.R218C	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	218					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	ATTCCGAAGCGCGTGTTACTG	0.522																																					NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.2																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(652-654)Cgc>Tgc		Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Dihydroxyaluminium(DB01375)	G	CYS/ARG	0,4406		0,0,2203	163	156	159		652	5.4	1.0	5		159	1,8595	1.2+/-3.3	0,1,4297	no	missense	VDAC1	NM_003374.2	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	218/284	133311612	1,13001	2203	4298	6501	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133311612G>A		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.652C>T	5.37:g.133311612G>A	ENSP00000265333:p.Arg218Cys		Somatic				VDAC1_uc003kyq.2_Missense_Mutation_p.R218C|VDAC1_uc003kyr.2_Missense_Mutation_p.R218C	p.R218C	NM_003374	NP_003365	WXS	Illumina GAIIx	Phase_I	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	975	-			218					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.652C>T	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654466	0.67472	0.0	1.16E-4	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.44482	0.92;0.92;0.92	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	N	0.16307	0.4	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12016	-1.0564	10	0.87932	D	0	.	19.5098	0.95137	0.0:0.0:1.0:0.0	.	218	P21796	VDAC1_HUMAN	C	218	ENSP00000265333:R218C;ENSP00000378484:R218C;ENSP00000378487:R218C	ENSP00000265333:R218C	R	-	1	0	VDAC1	133339511	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.832000	0.86757	2.692000	0.91855	0.579000	0.79373	CGC		0.522	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			56	215	0	0	0	1	0	56	215					A	133311612	G	A	133311612	3	1	363	1	0	0	0	0	1	0	0	0	17143	1087	38	1	211	1	VDAC1	5	133311612	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		133311612	47603648	4	6179											
AP4M1	9179	broad.mit.edu	37	7	99704048	99704048	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr7:99704048C>A	ENST00000359593.4	+	14	1206	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	AP4M1_ENST00000421755.1_Missense_Mutation_p.P350T|AP4M1_ENST00000422582.1_Missense_Mutation_p.P222T|AP4M1_ENST00000429084.1_Missense_Mutation_p.P357T	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	350	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGAGCAGCCCAGAGCAGAA	0.607																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1048-1050)Cca>Aca		Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.							42	46	44					7																	99704048		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity	g.chr7:99704048C>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1048C>A	7.37:g.99704048C>A	ENSP00000352603:p.Pro350Thr		Somatic				AP4M1_uc010lgl.1_Missense_Mutation_p.P325T|AP4M1_uc003utd.3_Missense_Mutation_p.P350T|AP4M1_uc011kjh.2_Missense_Mutation_p.P302T|AP4M1_uc003ute.4_Missense_Mutation_p.P125T|AP4M1_uc003utf.4_Missense_Mutation_p.P222T	p.P350T	NM_004722	NP_004713	WXS	Illumina GAIIx	Phase_I	O00189	AP4M1_HUMAN			13	1256	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		350			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.1048C>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332097	0.81801	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582;ENST00000450807	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	4.81	4.81	0.61882	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.54323	1.7	0.80722	D	1	P;D;P	0.56287	0.816;0.975;0.786	P;P;P	0.54346	0.633;0.749;0.536	T	0.08411	-1.0723	10	0.87932	D	0	-15.5613	15.4139	0.74948	0.0:1.0:0.0:0.0	.	302;357;350	B4DKN7;C9JC87;O00189	.;.;AP4M1_HUMAN	T	282;357;350;350;222;102	ENSP00000401613:P282T;ENSP00000403663:P357T;ENSP00000352603:P350T;ENSP00000412185:P350T;ENSP00000406676:P222T;ENSP00000391585:P102T	ENSP00000352603:P350T	P	+	1	0	AP4M1	99541984	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.202000	0.72131	2.501000	0.84356	0.561000	0.74099	CCA		0.607	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		3	80	0	0	0	1	0	3	80					A	99704048	C	A	99704048	3	1	363	1	0	0	0	0	1	0	0	0	753	623	22	4	1102	4	AP4M1	7	99704048	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		99704048	59434615	5	6180											
HOOK3	84376	broad.mit.edu	37	8	42873627	42873627	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:42873627G>A	ENST00000307602.4	+	22	2343	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.A21T	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	715	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CGTGCAGCCGGCCACAGCAAG	0.537			T	RET	papillary thyroid																																	uc003xpr.3				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(2143-2145)Gcc>Acc		Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.							71	67	68					8																	42873627		2203	4300	6503	SO:0001583	missense	84376				Golgi localization|cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	FHF complex|cis-Golgi network|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42873627G>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.2143G>A	8.37:g.42873627G>A	ENSP00000305699:p.Ala715Thr		Somatic					p.A715T	NM_032410	NP_115786	WXS	Illumina GAIIx	Phase_I	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		21	2385	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	715			Required for association with Golgi.|Required for interaction with MSR1.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.2143G>A	CCDS6139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.845|8.845	0.943158|0.943158	0.18281|0.18281	.|.	.|.	ENSG00000168172;ENSG00000254673|ENSG00000168172	ENST00000307602;ENST00000534420|ENST00000533338	T|.	0.17528|.	2.27|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.093281|.	0.85682|.	D|.	0.000000|.	T|T	0.57533|0.57533	0.2060|0.2060	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999993|0.999993	B|.	0.24920|.	0.114|.	B|.	0.24701|.	0.055|.	T|T	0.49173|0.49173	-0.8967|-0.8967	10|5	0.09590|.	T|.	0.72|.	-0.224|-0.224	20.422|20.422	0.99049|0.99049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	715|.	Q86VS8|.	HOOK3_HUMAN|.	T|D	715;21|27	ENSP00000305699:A715T|.	ENSP00000305699:A715T|.	A|G	+|+	1|2	0|0	RP11-598P20.5;HOOK3|HOOK3	42992784|42992784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.074000|0.074000	0.17049|0.17049	6.365000|6.365000	0.73090|0.73090	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.537	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		4	129	0	0	0	1	0	4	129					A	42873627	G	A	42873627	3	1	363	1	0	0	0	0	1	0	0	0	7284	1203	42	2	2229	2	HOOK3	8	42873627	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		42873627	103490395	6	6181											
EFCAB1	79645	broad.mit.edu	37	8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	rs201706002		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr8:49643961G>A	ENST00000262103.3	-	2	240	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													G|||	1	0.000199681	0	0	5008	,	,		16776	0.001		0	False		,,,				2504	0					uc003xqo.2																			0		p.R54Q(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(160-162)Cga>Tga		Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.							127	114	118					8																	49643961		2203	4300	6503	SO:0001587	stop_gained	79645						calcium ion binding	g.chr8:49643961G>A		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.160C>T	8.37:g.49643961G>A	ENSP00000262103:p.Arg54*		Somatic				EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	p.R54*	NM_024593	NP_078869	WXS	Illumina GAIIx	Phase_I	Q9HAE3	EFCB1_HUMAN			1	320	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	54					B4DSB4|E7EVN7	Nonsense_Mutation	SNP	ENST00000262103.3	37	c.160C>T	CCDS6145.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.154769	0.94686	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	.	.	.	4.89	1.95	0.26073	.	0.052062	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.917	0.52771	0.0:0.0:0.386:0.614	.	.	.	.	X	54	.	ENSP00000262103:R54X	R	-	1	2	EFCAB1	49806514	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	1.451000	0.35145	0.285000	0.22329	-0.188000	0.12872	CGA		0.393	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		29	88	0	0	0	1	0	29	88					A	49643961	G	A	49643961	4	1	363	1	0	0	0	0	0	1	0	0	4933	1066	37	1	495	1	EFCAB1	8	49643961	Nonsense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	6770334	49643961	96720061	7	6182											
GALNT12	79695	broad.mit.edu	37	9	101597558	101597558	+	Silent	SNP	T	T	C			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:101597558T>C	ENST00000375011.3	+	5	945	c.945T>C	c.(943-945)ttT>ttC	p.F315F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	315	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTGGGCTGTTTGCTGTGAGTA	0.393																																						uc004ayz.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(943-945)ttT>ttC		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.							146	154	151					9																	101597558		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101597558T>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.945T>C	9.37:g.101597558T>C			Somatic					p.F315F	NM_024642	NP_078918	WXS	Illumina GAIIx	Phase_I	Q8IXK2	GLT12_HUMAN			4	945	+		Acute lymphoblastic leukemia(62;0.0559)	315			Catalytic subdomain B.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.945T>C	CCDS6737.1																																																																																				0.393	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		75	76	0	0	0	1	0	75	76					C	101597558	T	C	101597558	2	2	363	1	0	0	0	0	0	0	0	1	6210	1809	63	3		3	GALNT12	9	101597558	Silent	SNP	T	TCGA-FY-A3I5-01B-11D-A21Z-08		101597558	39615873	8	6183											
ABCA1	19	broad.mit.edu	37	9	107562200	107562200	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr9:107562200G>A	ENST00000374736.3	-	36	5237	c.4843C>T	c.(4843-4845)Cgg>Tgg	p.R1615W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1615			R -> Q (associated with reduced plasma HDL cholesterol). {ECO:0000269|PubMed:15297675}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGTTGGCCCGGAGAATGGCA	0.468																																						uc004bcl.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(4843-4845)Cgg>Tgg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						136	123	127					9																	107562200		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107562200G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4843C>T	9.37:g.107562200G>A	ENSP00000363868:p.Arg1615Trp		Somatic					p.R1615W	NM_005502	NP_005493	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	35	5247	-			1615		R -> Q (associated with reduced plasma HDL cholesterol).			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4843C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813914	0.90790	.	.	ENSG00000165029	ENST00000374736	D	0.88354	-2.37	5.78	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.89849	0.6834	M	0.66939	2.045	0.80722	D	1	P	0.51653	0.947	P	0.46659	0.523	D	0.91231	0.5014	10	0.87932	D	0	.	16.8066	0.85707	0.0:0.0:0.871:0.129	.	1615	O95477	ABCA1_HUMAN	W	1615	ENSP00000363868:R1615W	ENSP00000363868:R1615W	R	-	1	2	ABCA1	106602021	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.567000	0.73983	2.894000	0.99253	0.655000	0.94253	CGG		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		3	121	0	0	0	1	0	3	121					A	107562200	G	A	107562200	3	1	363	1	0	0	0	0	1	0	0	0	28	1115	39	1	2002	1	ABCA1	9	107562200	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	5964642	107562200	33651231	9	6184											
ITGA8	8516	broad.mit.edu	37	10	15655758	15655758	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:15655758G>A	ENST00000378076.3	-	15	1807	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	485					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						AGTCACAACCGGTCTTGCTCT	0.463																																						uc001ioc.1																			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.(1453-1455)cCg>cTg		Homo sapiens integrin, alpha 8 (ITGA8), mRNA.							91	92	92					10																	15655758		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655758G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1454C>T	10.37:g.15655758G>A	ENSP00000367316:p.Pro485Leu		Somatic				ITGA8_uc010qcb.1_Missense_Mutation_p.P470L	p.P485L	NM_003638	NP_003629	WXS	Illumina GAIIx	Phase_I	P53708	ITA8_HUMAN			14	1454	-			485					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1454C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604699	0.66445	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.79749	-1.3	5.23	5.23	0.72850	Integrin alpha-2 (1);	0.049578	0.85682	D	0.000000	D	0.90710	0.7085	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.946;0.968	D	0.92321	0.5866	10	0.87932	D	0	.	16.995	0.86365	0.0:0.0:1.0:0.0	.	470;485	F5H818;P53708	.;ITA8_HUMAN	L	485;470	ENSP00000367316:P485L	ENSP00000367316:P485L	P	-	2	0	ITGA8	15695764	1.000000	0.71417	0.888000	0.34837	0.492000	0.33523	6.780000	0.75063	2.443000	0.82685	0.467000	0.42956	CCG		0.463	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		3	102	0	0	0	1	0	3	102					A	15655758	G	A	15655758	3	1	363	1	0	0	0	0	1	0	0	0	7882	1116	39	1	1801	1	ITGA8	10	15655758	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		15655758	119878989	10	6185											
CNNM1	26507	broad.mit.edu	37	10	101120670	101120670	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr10:101120670C>T	ENST00000356713.4	+	3	2085	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	CNNM1_ENST00000446890.1_Missense_Mutation_p.T528M|CNNM1_ENST00000370528.3_Missense_Mutation_p.T528M|CNNM1_ENST00000370534.4_Missense_Mutation_p.T234M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	599					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTTTCGGACACGGAGATGCGG	0.542																																						uc010qpi.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1795-1797)aCg>aTg		Homo sapiens cyclin M1 (CNNM1), mRNA.							118	112	114					10																	101120670		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120670C>T	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1796C>T	10.37:g.101120670C>T	ENSP00000349147:p.Thr599Met		Somatic				CNNM1_uc009xwe.3_Missense_Mutation_p.T599M|CNNM1_uc001kpp.4_Missense_Mutation_p.T599M|CNNM1_uc009xwf.3_Missense_Mutation_p.T599M|CNNM1_uc009xwg.3_5'UTR	p.T599M	NM_020348	NP_065081	WXS	Illumina GAIIx	Phase_I	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	2	2085	+		Colorectal(252;0.234)	599					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1796C>T	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993324	0.54041	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.82984	-1.67;-1.66;-1.66;-0.67	5.74	4.82	0.62117	.	0.234551	0.39210	N	0.001424	T	0.79046	0.4380	N	0.24115	0.695	0.27084	N	0.963001	P;D;P;B	0.53312	0.84;0.959;0.919;0.41	B;P;B;B	0.48901	0.255;0.594;0.101;0.202	T	0.74651	-0.3594	10	0.62326	D	0.03	-28.5079	15.0721	0.72046	0.0:0.5648:0.4352:0.0	.	234;599;234;599	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	M	599;528;528;234;52	ENSP00000349147:T599M;ENSP00000406492:T528M;ENSP00000359559:T528M;ENSP00000359565:T234M	ENSP00000349147:T599M	T	+	2	0	CNNM1	101110660	1.000000	0.71417	0.477000	0.27303	0.911000	0.54048	4.314000	0.59166	1.386000	0.46466	0.655000	0.94253	ACG		0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		4	121	0	0	0	1	0	4	121					T	101120670	C	T	101120670	3	4	363	1	0	0	0	0	1	0	0	0	3612	536	19	1	1806	1	CNNM1	10	101120670	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08	85464912	101120670	34414077	11	6186											
EFEMP2	30008	broad.mit.edu	37	11	65636030	65636030	+	Silent	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:65636030G>A	ENST00000307998.6	-	8	1028	c.798C>T	c.(796-798)tcC>tcT	p.S266S	EFEMP2_ENST00000528176.1_Silent_p.S266S|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	266	EGF-like 5; 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)		GGCAGTGGCAGGAGAAACGGC	0.622																																						uc001ofy.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(796-798)tcC>tcT		Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.							83	74	77					11																	65636030		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65636030G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.798C>T	11.37:g.65636030G>A			Somatic				EFEMP2_uc001ofz.3_Non-coding_Transcript	p.S266S	NM_016938	NP_058634	WXS	Illumina GAIIx	Phase_I	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	7	1057	-			266			EGF-like 5; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.798C>T	CCDS8116.1																																																																																				0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		3	64	0	0	0	1	0	3	64					A	65636030	G	A	65636030	2	1	363	1	0	0	0	0	0	0	0	1	4942	987	35	2		2	EFEMP2	11	65636030	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		65636030	69370486	12	6187											
ZW10	9183	broad.mit.edu	37	11	113631247	113631247	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr11:113631247C>A	ENST00000200135.3	-	4	552	c.408G>T	c.(406-408)caG>caT	p.Q136H		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	136	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CTTCCAGACGCTGAGCACCAG	0.323																																						uc001poe.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(406-408)caG>caT		Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.							178	177	177					11																	113631247		2201	4296	6497	SO:0001583	missense	9183				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113631247C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.408G>T	11.37:g.113631247C>A	ENSP00000200135:p.Gln136His		Somatic				ZW10_uc009yyv.3_Non-coding_Transcript	p.Q136H	NM_004724	NP_004715	WXS	Illumina GAIIx	Phase_I	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	3	505	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	136			Interaction with RINT1.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.408G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213841	0.39102	.	.	ENSG00000086827	ENST00000200135	T	0.43688	0.94	5.19	2.18	0.27775	.	0.490903	0.24554	N	0.037526	T	0.40473	0.1118	L	0.44542	1.39	0.21915	N	0.999475	B	0.30361	0.277	B	0.43478	0.421	T	0.35773	-0.9775	10	0.41790	T	0.15	-0.0167	7.1591	0.25654	0.0:0.5868:0.2735:0.1397	.	136	O43264	ZW10_HUMAN	H	136	ENSP00000200135:Q136H	ENSP00000200135:Q136H	Q	-	3	2	ZW10	113136457	0.692000	0.27719	0.498000	0.27564	0.880000	0.50808	0.272000	0.18644	0.732000	0.32470	0.484000	0.47621	CAG		0.323	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		81	223	0	0	0	1	0	81	223					A	113631247	C	A	113631247	3	1	363	1	0	0	0	0	1	0	0	0	18244	796	28	4	1983	4	ZW10	11	113631247	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08	47995217	113631247	21375269	13	6188											
TCHP	84260	broad.mit.edu	37	12	110353299	110353299	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr12:110353299C>G	ENST00000312777.5	+	12	1626	c.1412C>G	c.(1411-1413)gCc>gGc	p.A471G	TCHP_ENST00000405876.4_Missense_Mutation_p.A471G	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTCTCAGATGCCCTGCTGCAG	0.637																																						uc001tpn.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.(1411-1413)gCc>gGc		Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.							34	34	34					12																	110353299		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110353299C>G	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1412C>G	12.37:g.110353299C>G	ENSP00000324404:p.Ala471Gly		Somatic				TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.A471G	p.A471G	NM_001143852	NP_115676	WXS	Illumina GAIIx	Phase_I	Q9BT92	TCHP_HUMAN			11	1565	+			471			Glu-rich.|Interaction with keratin proteins.			Missense_Mutation	SNP	ENST00000312777.5	37	c.1412C>G	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122498	0.20877	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	T;T	0.11495	2.77;2.77	5.84	4.88	0.63580	.	0.628147	0.15755	N	0.246260	T	0.12689	0.0308	L	0.57536	1.79	0.09310	N	1	B	0.27625	0.183	B	0.27887	0.084	T	0.07751	-1.0756	10	0.35671	T	0.21	3.0304	10.4624	0.44587	0.2389:0.7611:0.0:0.0	.	471	Q9BT92	TCHP_HUMAN	G	471;471;115	ENSP00000384520:A471G;ENSP00000324404:A471G	ENSP00000324404:A471G	A	+	2	0	TCHP	108837682	0.010000	0.17322	0.131000	0.22000	0.309000	0.27889	2.379000	0.44318	2.763000	0.94921	0.650000	0.86243	GCC		0.637	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		25	21	0	0	0	1	0	25	21					G	110353299	C	G	110353299	3	3	363	1	0	0	0	0	1	0	0	0	15699	739	26	4	1454	4	TCHP	12	110353299	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		110353299	23498596	14	6189											
DAAM1	23002	broad.mit.edu	37	14	59797945	59797945	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr14:59797945A>G	ENST00000395125.1	+	13	1602	c.1579A>G	c.(1579-1581)Atc>Gtc	p.I527V	DAAM1_ENST00000360909.3_Missense_Mutation_p.I527V|DAAM1_ENST00000351081.1_Missense_Mutation_p.I527V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	527					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGTGCTTCAATCCCAGGTGG	0.502																																						uc001xdz.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1579-1581)Atc>Gtc		Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.							80	84	83					14																	59797945		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding	g.chr14:59797945A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1579A>G	14.37:g.59797945A>G	ENSP00000378557:p.Ile527Val		Somatic				DAAM1_uc001xea.1_Missense_Mutation_p.I527V	p.I527V	NM_014992	NP_055807	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	13	1704	+			527					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1579A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	0.190	-1.054264	0.01965	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89875	-2.58;-2.58;-2.58	6.16	-9.04	0.00734	.	0.924034	0.09410	N	0.805961	T	0.69646	0.3134	N	0.03238	-0.38	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59537	-0.7436	10	0.12766	T	0.61	.	13.8569	0.63534	0.6673:0.0888:0.2439:0.0	.	527;527	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	527	ENSP00000354162:I527V;ENSP00000247170:I527V;ENSP00000378557:I527V	ENSP00000247170:I527V	I	+	1	0	DAAM1	58867698	0.000000	0.05858	0.001000	0.08648	0.342000	0.28953	-0.873000	0.04214	-2.834000	0.00338	-2.125000	0.00346	ATC		0.502	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		17	179	0	0	0	1	0	17	179					G	59797945	A	G	59797945	3	3	363	1	0	0	0	0	1	0	0	0	4215	101	4	3	1629	3	DAAM1	14	59797945	Missense_Mutation	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		59797945	47551595	15	6190											
C14orf174	161394	broad.mit.edu	37	14	77845094	77845094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr14:77845094delA	ENST00000216471.4	+	1	1619	c.1333delA	c.(1333-1335)aaafs	p.K445fs	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	445										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						CCGTGAGCCTAAAAGAGGAAA	0.383																																						uc001xtq.1																			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.(1333-1335)aaafs		Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.							72	69	70					14																	77845094		2203	4300	6503	SO:0001589	frameshift_variant	161394							g.chr14:77845094delA	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1333delA	14.37:g.77845094delA	ENSP00000216471:p.Lys445fs		Somatic				TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Frame_Shift_Del_p.K445fs	p.K445fs	NM_001010860	NP_001010860	WXS	Illumina GAIIx	Phase_I	Q9P1V8	SAM15_HUMAN			0	1333	+			445					Q2M3P3	Frame_Shift_Del	DEL	ENST00000216471.4	37	c.1333delA	CCDS32126.1																																																																																				0.383	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		35	40						35	40	---	---	---	---	-	77845094	A	-	77845094	7	5	363	1	0	1	0	1	0	0	0	0	1759	363	13	0	1335	0	C14orf174	14	77845094	Frame_Shift_Del	DEL	A	TCGA-FY-A3I5-01B-11D-A21Z-08	18047149	77845094	29504446	16	6191											
RBL2	5934	broad.mit.edu	37	16	53504454	53504454	+	Missense_Mutation	SNP	C	C	G	rs200383130		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:53504454C>G	ENST00000262133.6	+	16	2542	c.2405C>G	c.(2404-2406)cCt>cGt	p.P802R	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	802	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGCAAGTCCCTGGTCAAGTG	0.552													C|||	1	0.000199681	0	0	5008	,	,		16756	0.001		0	False		,,,				2504	0					uc002ehi.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2404-2406)cCt>cGt		Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.							82	80	81					16																	53504454		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504454C>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2405C>G	16.37:g.53504454C>G	ENSP00000262133:p.Pro802Arg		Somatic				RBL2_uc002ehj.3_Missense_Mutation_p.P512R|RBL2_uc010vgw.2_Intron	p.P802R	NM_005611	NP_005602	WXS	Illumina GAIIx	Phase_I	Q08999	RBL2_HUMAN			15	2523	+			802			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2405C>G	CCDS10748.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.2	4.256061	0.80246	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91011	-2.77	5.7	5.7	0.88788	.	0.226336	0.45606	D	0.000341	D	0.88894	0.6561	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.906	P;P	0.56278	0.795;0.621	D	0.91326	0.5086	10	0.72032	D	0.01	-8.073	19.8354	0.96655	0.0:1.0:0.0:0.0	.	512;802	E9PG04;Q08999	.;RBL2_HUMAN	R	802;512	ENSP00000262133:P802R	ENSP00000262133:P802R	P	+	2	0	RBL2	52061955	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	2.686000	0.91538	0.555000	0.69702	CCT		0.552	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		5	105	0	0	0	1	0	5	105					G	53504454	C	G	53504454	3	3	363	1	0	0	0	0	1	0	0	0	13110	681	24	4	2467	4	RBL2	16	53504454	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		53504454	36850299	17	6192											
WDR59	79726	broad.mit.edu	37	16	74990380	74990380	+	Missense_Mutation	SNP	G	G	A	rs553308888		TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr16:74990380G>A	ENST00000262144.6	-	3	363	c.233C>T	c.(232-234)gCg>gTg	p.A78V	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	78										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCGAAGCCGCAAAATAGTG	0.488																																						uc002fdh.1																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(232-234)gCg>gTg		Homo sapiens WD repeat domain 59 (WDR59), mRNA.							88	79	82					16																	74990380		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74990380G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.233C>T	16.37:g.74990380G>A	ENSP00000262144:p.Ala78Val		Somatic				WDR59_uc002fdi.3_Missense_Mutation_p.A78V|WDR59_uc021tli.1_Missense_Mutation_p.A57V	p.A78V	NM_030581	NP_085058	WXS	Illumina GAIIx	Phase_I	Q6PJI9	WDR59_HUMAN			2	335	-			78					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.233C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939463	0.92526	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.69175	-0.38	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	N	0.16862	0.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.62272	-0.6889	10	0.11794	T	0.64	-14.4303	20.8794	0.99867	0.0:0.0:1.0:0.0	.	78;78	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	V	78;57	ENSP00000262144:A78V	ENSP00000262144:A78V	A	-	2	0	WDR59	73547881	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.410000	0.97335	2.941000	0.99782	0.655000	0.94253	GCG		0.488	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		3	78	0	0	0	1	0	3	78					A	74990380	G	A	74990380	3	1	363	1	0	0	0	0	1	0	0	0	17305	1087	38	1	2787	1	WDR59	16	74990380	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	21485926	74990380	15364373	18	6193											
RUNDC1	146923	broad.mit.edu	37	17	41141502	41141502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr17:41141502G>T	ENST00000361677.1	+	3	814	c.802G>T	c.(802-804)Gag>Tag	p.E268*		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	268										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAGTTGGTTGAGCAACTGAA	0.493																																						uc002ici.1																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(802-804)Gag>Tag		Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.							101	87	92					17																	41141502		2203	4300	6503	SO:0001587	stop_gained	146923							g.chr17:41141502G>T	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.802G>T	17.37:g.41141502G>T	ENSP00000354622:p.Glu268*		Somatic					p.E268*	NM_173079	NP_775102	WXS	Illumina GAIIx	Phase_I	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	2	814	+		Breast(137;0.00499)	268					Q6Y2K8|Q8IXT9|Q8N3W1	Nonsense_Mutation	SNP	ENST00000361677.1	37	c.802G>T	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870953	0.97049	.	.	ENSG00000198863	ENST00000361677	.	.	.	5.35	5.35	0.76521	.	0.058843	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-28.8877	19.2405	0.93881	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000354622:E268X	E	+	1	0	RUNDC1	38395028	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	2.780000	0.95670	0.655000	0.94253	GAG		0.493	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		28	85	0	0	0	1	0	28	85					T	41141502	G	T	41141502	4	4	363	1	0	0	0	0	0	1	0	0	13742	1291	45	4	812	4	RUNDC1	17	41141502	Nonsense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		41141502	40053708	19	6194											
ZNF521	25925	broad.mit.edu	37	18	22805082	22805082	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr18:22805082C>T	ENST00000361524.3	-	4	2948	c.2800G>A	c.(2800-2802)Gtg>Atg	p.V934M	ZNF521_ENST00000584787.1_Missense_Mutation_p.V714M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V934M|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	934					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)					CGAGAGCACACGTTGCACTTG	0.507			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		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.(2800-2802)Gtg>Atg		Homo sapiens zinc finger protein 521 (ZNF521), mRNA.							149	139	143					18																	22805082		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.chr18:22805082C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2800G>A	18.37:g.22805082C>T	ENSP00000354794:p.Val934Met		Somatic				ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.V934M|ZNF521_uc002kvl.2_Missense_Mutation_p.V714M	p.V934M	NM_015461	NP_056276	WXS	Illumina GAIIx	Phase_I	Q96K83	ZN521_HUMAN			3	3047	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		934					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2800G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513941	0.27123	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.30182	1.54;1.54	5.97	5.97	0.96955	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	0.52141	0.1716	M	0.69185	2.1	0.38692	D	0.952789	D	0.76494	0.999	D	0.68765	0.96	T	0.54337	-0.8309	10	0.56958	D	0.05	-25.5564	13.6013	0.62020	0.0:0.9294:0.0:0.0706	.	934	Q96K83	ZN521_HUMAN	M	934;968;934	ENSP00000354794:V934M;ENSP00000382352:V934M	ENSP00000354794:V934M	V	-	1	0	ZNF521	21059080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.828000	0.97474	0.655000	0.94253	GTG		0.507	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		22	106	0	0	0	1	0	22	106					T	22805082	C	T	22805082	3	4	363	1	0	0	0	0	1	0	0	0	17962	536	19	1	1155	1	ZNF521	18	22805082	Missense_Mutation	SNP	C	TCGA-FY-A3I5-01B-11D-A21Z-08		22805082	55272166	20	6195											
DLGAP4	22839	broad.mit.edu	37	20	35125295	35125295	+	Silent	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr20:35125295G>A	ENST00000373907.2	+	7	2035	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	DLGAP4_ENST00000401952.2_Silent_p.L612L|DLGAP4_ENST00000339266.5_Silent_p.L612L|DLGAP4_ENST00000373913.3_Silent_p.L612L|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.L73L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	612					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGACAGCCTGGACAGCAGTA	0.632																																						uc002xff.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1834-1836)ctG>ctA		Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.							91	80	84					20																	35125295		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35125295G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1836G>A	20.37:g.35125295G>A			Somatic				DLGAP4_uc010zvp.2_Silent_p.L612L|DLGAP4_uc002xfg.3_5'UTR|DLGAP4_uc002xfh.3_Silent_p.L73L|DLGAP4_uc002xfi.3_5'UTR|DLGAP4_uc002xfj.3_5'Flank	p.L612L	NM_014902	NP_055717	WXS	Illumina GAIIx	Phase_I	Q9Y2H0	DLGP4_HUMAN			7	2271	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	612					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.1836G>A																																																																																					0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		3	96	0	0	0	1	0	3	96					A	35125295	G	A	35125295	2	1	363	1	0	0	0	0	0	0	0	1	4562	1335	47	2		2	DLGAP4	20	35125295	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		35125295	27900225	21	6196											
DMC1	11144	broad.mit.edu	37	22	38951410	38951410	+	Silent	SNP	A	A	G			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:38951410A>G	ENST00000216024.2	-	6	607	c.331T>C	c.(331-333)Tta>Cta	p.L111L	DMC1_ENST00000428462.2_Silent_p.L111L	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	111					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CCTCCTAGTAACTTACTGGAA	0.303								Homologous recombination																														uc003avz.1																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(331-333)Tta>Cta	Homologous recombination	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.							58	60	59					22																	38951410		2202	4285	6487	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38951410A>G	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.331T>C	22.37:g.38951410A>G			Somatic				DMC1_uc011anv.1_Silent_p.L111L|DMC1_uc003awa.1_Silent_p.L111L	p.L111L	NM_007068	NP_008999	WXS	Illumina GAIIx	Phase_I	Q14565	DMC1_HUMAN			5	506	-	Melanoma(58;0.0286)		111					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.331T>C	CCDS13973.1																																																																																				0.303	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		4	106	0	0	0	1	0	4	106					G	38951410	A	G	38951410	2	3	363	1	0	0	0	0	0	0	0	1	4579	40	2	3		3	DMC1	22	38951410	Silent	SNP	A	TCGA-FY-A3I5-01B-11D-A21Z-08		38951410	12353156	22	6197											
GTPBP1	9567	broad.mit.edu	37	22	39112749	39112749	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chr22:39112749G>A	ENST00000216044.5	+	4	811	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	193	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R193H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCTTTGCCCGCCAGAAACTC	0.557																																						uc003awg.3																			1	Substitution - Missense(1)	p.R193H(2)|p.R193C(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(577-579)cGc>cAc		Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.							57	55	56					22																	39112749		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112749G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.578G>A	22.37:g.39112749G>A	ENSP00000216044:p.Arg193His		Somatic					p.R193H	NM_004286	NP_004277	WXS	Illumina GAIIx	Phase_I	O00178	GTPB1_HUMAN			3	732	+	Melanoma(58;0.04)		193					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.578G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	34	5.341713	0.95783	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70986	-0.53;-0.53	5.25	5.25	0.73442	Protein synthesis factor, GTP-binding (1);	0.053428	0.85682	D	0.000000	D	0.90120	0.6913	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.93653	0.6975	10	0.87932	D	0	.	18.8294	0.92132	0.0:0.0:1.0:0.0	.	193	O00178	GTPB1_HUMAN	H	193;112	ENSP00000216044:R193H;ENSP00000442881:R112H	ENSP00000216044:R193H	R	+	2	0	GTPBP1	37442695	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.747000	0.98863	2.436000	0.82500	0.551000	0.68910	CGC		0.557	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		3	55	0	0	0	1	0	3	55					A	39112749	G	A	39112749	3	1	363	1	0	0	0	0	1	0	0	0	6878	1087	38	1	592	1	GTPBP1	22	39112749	Missense_Mutation	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08	161339	39112749	12191817	23	6198											
PHKA1	5255	broad.mit.edu	37	X	71864258	71864258	+	Silent	SNP	G	G	A			TCGA-FY-A3I5-01B-11D-A21Z-08	TCGA-FY-A3I5-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ede8763-643f-4e29-ba92-60bc5be02a3e	f61f065c-bf04-454a-a292-a5178665ac29	g.chrX:71864258G>A	ENST00000373542.4	-	14	1572	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	PHKA1_ENST00000541944.1_Silent_p.I471I|PHKA1_ENST00000373539.3_Silent_p.I471I|PHKA1_ENST00000373545.3_Silent_p.I471I|PHKA1_ENST00000339490.3_Silent_p.I471I	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	471					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTGTACTCTGATGGGGTATA	0.433																																						uc004eax.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1411-1413)atC>atT		Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.							181	128	146					X																	71864258		2203	4300	6503	SO:0001819	synonymous_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71864258G>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1413C>T	X.37:g.71864258G>A			Somatic				PHKA1_uc004eay.4_Silent_p.I471I|PHKA1_uc011mqi.2_Silent_p.I471I	p.I471I	NM_002637	NP_002628	WXS	Illumina GAIIx	Phase_I	P46020	KPB1_HUMAN			13	1714	-	Renal(35;0.156)		471					B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	c.1413C>T	CCDS14421.1																																																																																				0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			18	51	0	0	0	1	0	18	51					A	71864258	G	A	71864258	2	1	363	1	0	0	0	0	0	0	0	1	11843	1280	45	2		2	PHKA1	23	71864258	Silent	SNP	G	TCGA-FY-A3I5-01B-11D-A21Z-08		71864258	83406302	24	6199											
C1orf210	149466	broad.mit.edu	37	1	43748745	43748745	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:43748745G>A	ENST00000523677.1	-	3	286	c.53C>T	c.(52-54)tCt>tTt	p.S18F	C1orf210_ENST00000423420.1_Missense_Mutation_p.S18F	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	18						integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCCACAGCAGACGCTGTGGG	0.627																																						uc001cit.4																			0				breast(1)	1						c.(52-54)tCt>tTt		Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.							27	29	29					1																	43748745		2203	4300	6503	SO:0001583	missense	149466					integral to membrane		g.chr1:43748745G>A	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.53C>T	1.37:g.43748745G>A	ENSP00000430918:p.Ser18Phe		Somatic				C1orf210_uc021omn.1_Missense_Mutation_p.S18F	p.S18F	NM_182517	NP_872323	WXS	Illumina GAIIx	Phase_I	Q8IVY1	CA210_HUMAN			2	287	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	18					D3DPX2	Missense_Mutation	SNP	ENST00000523677.1	37	c.53C>T	CCDS481.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646650	0.67358	.	.	ENSG00000253313	ENST00000523677;ENST00000423420	T;T	0.49139	0.79;0.79	4.96	4.96	0.65561	.	1.099970	0.06888	N	0.803735	T	0.67739	0.2925	M	0.70595	2.14	0.09310	N	1	D	0.55385	0.971	P	0.58454	0.839	T	0.59144	-0.7509	10	0.72032	D	0.01	.	15.5093	0.75766	0.0:0.0:1.0:0.0	.	18	Q8IVY1	CA210_HUMAN	F	18	ENSP00000430918:S18F;ENSP00000429399:S18F	ENSP00000429399:S18F	S	-	2	0	C1orf210	43521332	0.119000	0.22226	0.025000	0.17156	0.114000	0.19823	2.530000	0.45641	2.580000	0.87095	0.561000	0.74099	TCT		0.627	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		5	21	0	0	0	1	0	5	21					A	43748745	G	A	43748745	3	1	364	1	0	0	0	0	1	0	0	0	2029	942	33	2	292	2	C1orf210	1	43748745	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		43748745	205501876	1	6200											
CENPF	1063	broad.mit.edu	37	1	214820611	214820611	+	Silent	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:214820611G>A	ENST00000366955.3	+	13	7866	c.7698G>A	c.(7696-7698)gaG>gaA	p.E2566E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2662	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				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)		TGGAATTGGAGCAGAAGATCC	0.433																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.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.(7696-7698)gaG>gaA		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							82	80	80					1																	214820611		2203	4300	6503	SO:0001819	synonymous_variant	1063				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|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.chr1:214820611G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7698G>A	1.37:g.214820611G>A			Somatic					p.E2566E	NM_016343	NP_057427	WXS	Illumina GAIIx	Phase_I	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	7872	+			2662			2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.7698G>A	CCDS31023.1																																																																																				0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		3	76	0	0	0	1	0	3	76					A	214820611	G	A	214820611	2	1	364	1	0	0	0	0	0	0	0	1	3231	962	34	2		2	CENPF	1	214820611	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	171071866	214820611	34430010	2	6201											
ZNF678	339500	broad.mit.edu	37	1	227843206	227843206	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr1:227843206C>T	ENST00000343776.5	+	4	1600	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H474Y	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAGTGCTCTCACCTAACTAG	0.368																																						uc021pjy.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(1420-1422)Cac>Tac		Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.							28	32	31					1																	227843206		2200	4290	6490	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843206C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1255C>T	1.37:g.227843206C>T	ENSP00000344828:p.His419Tyr		Somatic				ZNF678_uc001hqw.2_Missense_Mutation_p.H419Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	p.H474Y	NM_178549	NP_848644	WXS	Illumina GAIIx	Phase_I	F5GXA7	F5GXA7_HUMAN			3	1596	+		Prostate(94;0.0885)	474					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.1420C>T		.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303848	0.01353	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.13089	2.62;2.62	1.5	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05410	0.0143	N	0.16201	0.385	0.09310	N	1	B	0.30870	0.298	B	0.32090	0.14	T	0.38178	-0.9673	9	0.14252	T	0.57	.	1.3632	0.02196	0.203:0.4273:0.2021:0.1677	.	419	Q5SXM1	ZN678_HUMAN	Y	419;474	ENSP00000344828:H419Y;ENSP00000440403:H474Y	ENSP00000344828:H419Y	H	+	1	0	ZNF678	225909829	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-6.766000	0.00054	-1.378000	0.02120	-1.284000	0.01376	CAC		0.368	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		3	57	0	0	0	1	0	3	57					T	227843206	C	T	227843206	3	4	364	1	0	0	0	0	1	0	0	0	18082	826	29	2	1434	2	ZNF678	1	227843206	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08	13022595	227843206	21407415	3	6202											
DNMT3A	1788	broad.mit.edu	37	2	25497865	25497865	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:25497865G>A	ENST00000264709.3	-	6	921	c.584C>T	c.(583-585)cCc>cTc	p.P195L	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P195L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	195					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTAGTAGGGGTCCCCCGC	0.701			"Mis, F, N, S"		AML																																	uc002rgc.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(583-585)cCc>cTc		Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.							39	37	38					2																	25497865		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497865G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.584C>T	2.37:g.25497865G>A	ENSP00000264709:p.Pro195Leu		Somatic				DNMT3A_uc002rgd.3_Missense_Mutation_p.P195L|DNMT3A_uc010eyi.3_Non-coding_Transcript	p.P195L	NM_022552	NP_783328	WXS	Illumina GAIIx	Phase_I	Q9Y6K1	DNM3A_HUMAN			5	841	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.584C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616222	0.66672	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	D;D	0.94330	-3.4;-3.4	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000002	D	0.90758	0.7099	N	0.24115	0.695	0.80722	D	1	P	0.51791	0.948	P	0.48189	0.57	D	0.92179	0.5750	10	0.66056	D	0.02	-8.2269	16.3295	0.83004	0.0:0.0:1.0:0.0	.	195	Q9Y6K1	DNM3A_HUMAN	L	195	ENSP00000324375:P195L;ENSP00000264709:P195L	ENSP00000264709:P195L	P	-	2	0	DNMT3A	25351369	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.004000	0.93583	2.448000	0.82819	0.561000	0.74099	CCC		0.701	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	16	0	0	0	1	0	8	16					A	25497865	G	A	25497865	3	1	364	1	0	0	0	0	1	0	0	0	4676	1232	43	2	2306	2	DNMT3A	2	25497865	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		25497865	217701508	4	6203											
EVX2	344191	broad.mit.edu	37	2	176944986	176944988	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr2:176944986_176944988delCCG	ENST00000308618.4	-	3	1414_1416	c.1278_1280delCGG	c.(1276-1281)ggcggg>ggg	p.426_427GG>G		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	426	Poly-Gly.				limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		Cccggcgcccccgccgccgccgc	0.783																																						uc010zeu.2																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(1276-1281)ggcggg>ggg		Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.																																				SO:0001651	inframe_deletion	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176944986_176944988delCCG		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.1278_1280delCGG	2.37:g.176944995_176944997delCCG	ENSP00000312385:p.Gly428del		Somatic					p.426_427GG>G	NM_001080458	NP_001073927	WXS	Illumina GAIIx	Phase_I	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	1464_1466	-			426			Poly-Gly.			In_Frame_Del	DEL	ENST00000308618.4	37	c.1278_1280delCGG	CCDS33333.1																																																																																				0.783	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			2	4						2	4	---	---	---	---	-	176944988	CCG	-	176944986	7	5	364	1	0	1	0	1	0	0	0	0	5295	623	22	0	152	0	EVX2	2	176944986	In_Frame_Del	DEL	CCG	TCGA-FY-A3NM-01A-11D-A21A-08	151447121	176944986	66254387	5	6204											
C3orf19	51244	broad.mit.edu	37	3	14706561	14706561	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr3:14706561G>A	ENST00000383794.3	+	6	585	c.512G>A	c.(511-513)cGt>cAt	p.R171H	CCDC174_ENST00000303688.7_Missense_Mutation_p.R171H	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCTTTGGGGCGTTCCCGGCGC	0.473																																						uc003byw.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	14						c.(511-513)cGt>cAt		Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA.							169	163	165					3																	14706561		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14706561G>A	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.512G>A	3.37:g.14706561G>A	ENSP00000373304:p.Arg171His		Somatic				C3orf19_uc010hei.1_Missense_Mutation_p.R171H|C3orf19_uc010hej.3_Missense_Mutation_p.R76H	p.R171H	NM_016474	NP_057558	WXS	Illumina GAIIx	Phase_I	Q6PII3	CC019_HUMAN			5	603	+			171					Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.512G>A	CCDS2620.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.29|19.29	3.799752|3.799752	0.70567|0.70567	.|.	.|.	ENSG00000154781|ENSG00000154781	ENST00000383794;ENST00000303688|ENST00000285042	T;T|.	0.72505|.	-0.66;0.03|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.146815|.	0.45606|.	D|.	0.000344|.	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.87153|0.87153	0.2210|0.2210	10|6	0.72032|0.66056	D|D	0.01|0.02	-12.0105|-12.0105	17.2927|17.2927	0.87162|0.87162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171|.	Q6PII3|.	CC019_HUMAN|.	H|I	171|76	ENSP00000373304:R171H;ENSP00000302344:R171H|.	ENSP00000302344:R171H|ENSP00000285042:V76I	R|V	+|+	2|1	0|0	C3orf19|C3orf19	14681565|14681565	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.833000|0.833000	0.47200|0.47200	7.196000|7.196000	0.77805|0.77805	2.374000|2.374000	0.81015|0.81015	0.591000|0.591000	0.81541|0.81541	CGT|GTT		0.473	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		4	173	0	0	0	1	0	4	173					A	14706561	G	A	14706561	3	1	364	1	0	0	0	0	1	0	0	0	2212	1145	40	1	534	1	C3orf19	3	14706561	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		14706561	183315869	6	6205											
CNGA1	1259	broad.mit.edu	37	4	47939187	47939187	+	Missense_Mutation	SNP	A	A	G	rs200583020		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:47939187A>G	ENST00000514170.1	-	11	1643	c.1324T>C	c.(1324-1326)Tgg>Cgg	p.W442R	CNGA1_ENST00000420489.2_Missense_Mutation_p.W442R|CNGA1_ENST00000544810.1_Missense_Mutation_p.W442R|CNGA1_ENST00000402813.3_Missense_Mutation_p.W511R|CNGA1_ENST00000358519.4_Missense_Mutation_p.W442R			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	442					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTGTTGGTCCACAGGTAGTCA	0.328																																						uc003gxu.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1531-1533)Tgg>Cgg		Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.							142	135	137					4																	47939187		1858	4092	5950	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939187A>G	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1324T>C	4.37:g.47939187A>G	ENSP00000426862:p.Trp442Arg		Somatic				BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.W442R	p.W511R	NM_001142564	NP_000078	WXS	Illumina GAIIx	Phase_I	P29973	CNGA1_HUMAN			9	1672	-			442					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1531T>C	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626584	0.46840	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24	5.22	5.22	0.72569	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.93763	3.455	0.58432	D	0.999999	D;D	0.54964	0.969;0.969	P;P	0.51297	0.665;0.665	D	0.98911	1.0780	10	0.66056	D	0.02	.	15.1249	0.72475	1.0:0.0:0.0:0.0	.	442;442	Q4W5E3;P29973	.;CNGA1_HUMAN	R	511;442;442;442;442	ENSP00000384264:W511R;ENSP00000426862:W442R;ENSP00000443401:W442R;ENSP00000351320:W442R;ENSP00000389881:W442R	ENSP00000351320:W442R	W	-	1	0	CNGA1	47633944	1.000000	0.71417	0.994000	0.49952	0.812000	0.45895	8.962000	0.93254	1.971000	0.57363	0.402000	0.26972	TGG		0.328	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		5	122	0	0	0	1	0	5	122					G	47939187	A	G	47939187	3	3	364	1	0	0	0	0	1	0	0	0	3596	159	6	3	752	3	CNGA1	4	47939187	Missense_Mutation	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08		47939187	143215089	7	6206											
NPFFR2	10886	broad.mit.edu	37	4	73013276	73013276	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr4:73013276A>G	ENST00000308744.6	+	4	1414	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	NPFFR2_ENST00000358749.3_Missense_Mutation_p.N337S|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N340S|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	439					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGTTTCTTCAACGAGAATTTC	0.453																																						uc003hgg.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1315-1317)aAc>aGc		Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.							85	87	86					4																	73013276		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013276A>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1316A>G	4.37:g.73013276A>G	ENSP00000307822:p.Asn439Ser		Somatic				NPFFR2_uc010iig.2_Missense_Mutation_p.N221S|NPFFR2_uc003hgi.2_Missense_Mutation_p.N340S|NPFFR2_uc003hgh.2_Missense_Mutation_p.N337S	p.N439S	NM_004885	NP_444264	WXS	Illumina GAIIx	Phase_I	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		3	1414	+			439					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1316A>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946377	0.53079	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.39997	1.05;1.05;1.05	5.83	5.83	0.93111	.	0.331540	0.25948	N	0.027278	T	0.64789	0.2630	M	0.74467	2.265	0.80722	D	1	D;D	0.64830	0.994;0.974	D;P	0.69824	0.966;0.878	T	0.66830	-0.5824	10	0.54805	T	0.06	.	15.8582	0.79000	1.0:0.0:0.0:0.0	.	340;439	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	S	439;340;337	ENSP00000307822:N439S;ENSP00000379321:N340S;ENSP00000351599:N337S	ENSP00000307822:N439S	N	+	2	0	NPFFR2	73232140	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	9.195000	0.94971	2.225000	0.72522	0.533000	0.62120	AAC		0.453	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		24	65	0	0	0	1	0	24	65					G	73013276	A	G	73013276	3	3	364	1	0	0	0	0	1	0	0	0	10578	43	2	3	1336	3	NPFFR2	4	73013276	Missense_Mutation	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08	25074089	73013276	118141000	8	6207											
SLC26A8	116369	broad.mit.edu	37	6	35923195	35923195	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:35923195C>G	ENST00000490799.1	-	17	2319	c.1966G>C	c.(1966-1968)Gca>Cca	p.A656P	SLC26A8_ENST00000355574.2_Missense_Mutation_p.A656P|SLC26A8_ENST00000394602.2_Missense_Mutation_p.A551P	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCGGATGCAGTTTGGCTT	0.443																																						uc003olm.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1966-1968)Gca>Cca		Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.							256	240	245					6																	35923195		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923195C>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1966G>C	6.37:g.35923195C>G	ENSP00000417638:p.Ala656Pro		Somatic				SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A238P|SLC26A8_uc003oll.3_Missense_Mutation_p.A551P|SLC26A8_uc003oln.3_Missense_Mutation_p.A656P	p.A656P	NM_001193476	NP_443193	WXS	Illumina GAIIx	Phase_I	Q96RN1	S26A8_HUMAN			16	2077	-			656			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1966G>C	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	1.806	-0.475827	0.04414	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.94931	-3.24;-3.56;-3.24	5.01	-10.0	0.00425	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.870550	0.00682	N	0.000687	T	0.69833	0.3155	N	0.19112	0.55	0.09310	N	1	B;B;P	0.34757	0.301;0.446;0.467	B;B;B	0.33799	0.089;0.17;0.154	T	0.67673	-0.5610	10	0.30854	T	0.27	.	4.8689	0.13622	0.3629:0.3926:0.069:0.1755	.	656;551;238	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	P	656;551;656	ENSP00000417638:A656P;ENSP00000378100:A551P;ENSP00000347778:A656P	ENSP00000347778:A656P	A	-	1	0	SLC26A8	36031173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.799000	0.00762	-6.264000	0.00005	-2.850000	0.00103	GCA		0.443	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			49	75	0	0	0	1	0	49	75					G	35923195	C	G	35923195	3	3	364	1	0	0	0	0	1	0	0	0	14523	710	25	4	962	4	SLC26A8	6	35923195	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		35923195	135191872	9	6208											
HEY2	23493	broad.mit.edu	37	6	126080274	126080274	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr6:126080274G>A	ENST00000368364.3	+	5	537	c.340G>A	c.(340-342)Gca>Aca	p.A114T	HEY2_ENST00000368365.1_Missense_Mutation_p.A68T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	114	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|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 from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|transcription factor binding (GO:0008134)	p.A114P(1)|p.A114T(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CTACTTTGACGCACACGCTCT	0.527																																						uc003qad.3																			2	Substitution - Missense(2)	p.A114P(2)|p.A114T(2)	large_intestine(1)|lung(1)	breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(340-342)Gca>Aca		Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.							127	119	122					6																	126080274		2203	4300	6503	SO:0001583	missense	23493				Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding	g.chr6:126080274G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.340G>A	6.37:g.126080274G>A	ENSP00000357348:p.Ala114Thr		Somatic				HEY2_uc011ebr.2_Missense_Mutation_p.A68T	p.A114T	NM_012259	NP_036391	WXS	Illumina GAIIx	Phase_I	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	4	531	+			114			Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).			Missense_Mutation	SNP	ENST00000368364.3	37	c.340G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789287	0.96945	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.23727	0.0574	L	0.42581	1.335	0.80722	D	1	B	0.28584	0.216	B	0.26517	0.07	T	0.06427	-1.0827	10	0.18276	T	0.48	-8.2687	19.5573	0.95357	0.0:0.0:1.0:0.0	.	114	Q9UBP5	HEY2_HUMAN	T	68;114	ENSP00000357349:A68T;ENSP00000357348:A114T	ENSP00000357348:A114T	A	+	1	0	HEY2	126121967	1.000000	0.71417	0.872000	0.34217	0.948000	0.59901	7.917000	0.87498	2.629000	0.89072	0.561000	0.74099	GCA		0.527	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			3	74	0	0	0	1	0	3	74					A	126080274	G	A	126080274	3	1	364	1	0	0	0	0	1	0	0	0	7079	1087	38	1	358	1	HEY2	6	126080274	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	90157079	126080274	45034793	10	6209											
UBE2W	55284	broad.mit.edu	37	8	74717937	74717937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:74717937delA	ENST00000602593.1	-	5	443	c.391delT	c.(391-393)tatfs	p.Y131fs	UBE2W_ENST00000453587.2_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.Y171fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.Y142fs|UBE2W_ENST00000517608.1_Frame_Shift_Del_p.Y160fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.Y131fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	131					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			GTTCGCACATAAAAAGAATTA	0.299																																					Pancreas(14;490 592 20090 21022 23311)	uc003xzu.3																			0				kidney(1)|lung(1)	2						c.(424-426)tatfs		Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 1, mRNA.							78	69	72					8																	74717937		1793	4058	5851	SO:0001589	frameshift_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74717937delA	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"Ubiquitin-conjugating enzymes E2"	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.391delT	8.37:g.74717937delA	ENSP00000473561:p.Tyr131fs		Somatic				UBE2W_uc003xzt.2_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzv.3_Frame_Shift_Del_p.Y131fs|UBE2W_uc003xzw.3_Non-coding_Transcript	p.Y142fs	NM_001001481	NP_001001481	WXS	Illumina GAIIx	Phase_I	Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		5	477	-	Breast(64;0.0311)		131					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Frame_Shift_Del	DEL	ENST00000602593.1	37	c.424delT																																																																																					0.299	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		2	4						2	4	---	---	---	---	-	74717937	A	-	74717937	7	5	364	1	0	1	0	1	0	0	0	0	16874	362	13	0	72	0	UBE2W	8	74717937	Frame_Shift_Del	DEL	A	TCGA-FY-A3NM-01A-11D-A21A-08		74717937	71646085	11	6210											
PKHD1L1	93035	broad.mit.edu	37	8	110457580	110457580	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:110457580G>A	ENST00000378402.5	+	38	5586	c.5482G>A	c.(5482-5484)Gtc>Atc	p.V1828I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1828	IPT/TIG 10.				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)			AAACCTGACTGTCAGCAGCCC	0.493										HNSCC(38;0.096)																												uc003yne.3																			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.(5482-5484)Gtc>Atc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							83	84	84					8																	110457580		1952	4142	6094	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457580G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5482G>A	8.37:g.110457580G>A	ENSP00000367655:p.Val1828Ile	HNSCC(38;0.096)	Somatic					p.V1828I	NM_177531	NP_803875	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	5586	+			1828			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5482G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	2.362	-0.346275	0.05208	.	.	ENSG00000205038	ENST00000378402	D	0.86230	-2.09	6.03	-2.74	0.05932	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.461140	0.21276	N	0.077233	T	0.75831	0.3903	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.60281	-0.7294	10	0.35671	T	0.21	.	6.686	0.23146	0.3221:0.3311:0.3467:0.0	.	1828	Q86WI1	PKHL1_HUMAN	I	1828	ENSP00000367655:V1828I	ENSP00000367655:V1828I	V	+	1	0	PKHD1L1	110526756	0.594000	0.26849	0.004000	0.12327	0.148000	0.21650	0.782000	0.26788	-0.627000	0.05589	-0.878000	0.02970	GTC		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	76	0	0	0	1	0	4	76					A	110457580	G	A	110457580	3	1	364	1	0	0	0	0	1	0	0	0	11972	1377	48	2	5632	2	PKHD1L1	8	110457580	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08	35739643	110457580	35906442	12	6211											
HSF1	3297	broad.mit.edu	37	8	145515453	145515454	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr8:145515453_145515454insGG	ENST00000528838.1	+	1	174_175	c.14_15insGG	c.(13-18)gtgggcfs	p.VG5fs	BOP1_ENST00000529231.1_5'Flank|BOP1_ENST00000307404.5_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	5					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GATCTGCCCGTgggccccggcg	0.728																																						uc003zbt.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(13-15)gtgfs		Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.																																				SO:0001589	frameshift_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145515453_145515454insGG	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.15_16dupGG	8.37:g.145515454_145515455dupGG	ENSP00000431512:p.Val5fs		Somatic				BOP1_uc003zbr.1_5'Flank|HSF1_uc003zbu.4_Non-coding_Transcript	p.V5fs	NM_005526	NP_005517	WXS	Illumina GAIIx	Phase_I	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		0	184_185	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5					A8K4L0|A8MW26|Q53XT4	Frame_Shift_Ins	INS	ENST00000528838.1	37	c.14_15insGG	CCDS6419.1																																																																																				0.728	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		2	4						2	4	---	---	---	---	GG	145515454	-	GG	145515453	7	5	364	1	0	1	1	0	0	0	0	0	7395	1696	59	0	16	0	HSF1	8	145515453	Frame_Shift_Ins	INS	-	TCGA-FY-A3NM-01A-11D-A21A-08	35057873	145515453	848569	13	6212											
CNTLN	54875	broad.mit.edu	37	9	17236415	17236415	+	Silent	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr9:17236415G>A	ENST00000380647.3	+	5	762	c.678G>A	c.(676-678)aaG>aaA	p.K226K	CNTLN_ENST00000380641.4_Silent_p.K226K|CNTLN_ENST00000425824.1_Silent_p.K226K|CNTLN_ENST00000262360.5_Silent_p.K226K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	226					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGACACTAAGGAGTGTGTAC	0.368																																						uc003zmz.2																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(676-678)aaG>aaA		Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.							83	83	83					9																	17236415		1821	4081	5902	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17236415G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.678G>A	9.37:g.17236415G>A			Somatic				CNTLN_uc003zmx.4_Silent_p.K226K|CNTLN_uc003zmy.3_Silent_p.K226K|CNTLN_uc010mio.3_5'UTR	p.K226K	NM_017738	NP_060208	WXS	Illumina GAIIx	Phase_I	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	4	704	+			226					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.678G>A	CCDS43789.1																																																																																				0.368	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		11	45	0	0	0	1	0	11	45					A	17236415	G	A	17236415	2	1	364	1	0	0	0	0	0	0	0	1	3639	991	35	2		2	CNTLN	9	17236415	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		17236415	123977016	14	6213											
GTPBP4	23560	broad.mit.edu	37	10	1046805	1046805	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr10:1046805C>A	ENST00000360803.4	+	7	925	c.843C>A	c.(841-843)aaC>aaA	p.N281K	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.N165K|GTPBP4_ENST00000545048.1_Missense_Mutation_p.N234K	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	281	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCTTCATCAACAAGGTGTGTG	0.463																																						uc001ift.3																			0		p.I280I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(841-843)aaC>aaA		Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.							223	216	218					10																	1046805		2203	4300	6503	SO:0001583	missense	23560				negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046805C>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.843C>A	10.37:g.1046805C>A	ENSP00000354040:p.Asn281Lys		Somatic				GTPBP4_uc010qac.1_Missense_Mutation_p.N72K|GTPBP4_uc010qad.2_Missense_Mutation_p.N165K|GTPBP4_uc010qae.2_Missense_Mutation_p.N234K	p.N281K	NM_012341	NP_036473	WXS	Illumina GAIIx	Phase_I	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	6	914	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	281					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.843C>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508382	0.64410	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.34072	2.55;1.38;2.55	6.07	3.01	0.34805	Nucleolar GTP-binding 1 (1);Small GTP-binding protein domain (1);	0.155741	0.64402	D	0.000017	T	0.45875	0.1364	M	0.72479	2.2	0.80722	D	1	P	0.50156	0.932	P	0.52758	0.708	T	0.37709	-0.9694	10	0.66056	D	0.02	-29.7872	7.2396	0.26090	0.0:0.5074:0.0:0.4926	.	281	Q9BZE4	NOG1_HUMAN	K	281;165;234	ENSP00000354040:N281K;ENSP00000444277:N165K;ENSP00000445473:N234K	ENSP00000354040:N281K	N	+	3	2	GTPBP4	1036805	0.997000	0.39634	0.999000	0.59377	0.625000	0.37756	0.461000	0.21940	0.403000	0.25479	0.655000	0.94253	AAC		0.463	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		4	202	0	0	0	1	0	4	202					A	1046805	C	A	1046805	3	1	364	1	0	0	0	0	1	0	0	0	6882	477	17	4	869	4	GTPBP4	10	1046805	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		1046805	134487942	15	6214											
SLC26A10	65012	broad.mit.edu	37	12	58016597	58016597	+	Silent	SNP	G	G	T			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr12:58016597G>T	ENST00000320442.4	+	6	1130	c.819G>T	c.(817-819)ctG>ctT	p.L273L	SLC26A10_ENST00000379218.2_Silent_p.L273L	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	273						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCCCAACCTGGCTGAGCTGC	0.567																																						uc001spe.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(817-819)ctG>ctT		Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.							92	78	83					12																	58016597		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58016597G>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.819G>T	12.37:g.58016597G>T			Somatic				SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_5'Flank	p.L273L	NM_133489	NP_597996	WXS	Illumina GAIIx	Phase_I	Q8NG04	S2610_HUMAN			5	1130	+	Melanoma(17;0.122)		273					A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.819G>T	CCDS8949.2																																																																																				0.567	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			6	155	0	0	0	1	0	6	155					T	58016597	G	T	58016597	2	4	364	1	0	0	0	0	0	0	0	1	14515	1335	47	4		4	SLC26A10	12	58016597	Silent	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		58016597	75835298	16	6215											
GABRB3	2562	broad.mit.edu	37	15	26806094	26806094	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:26806094C>G	ENST00000311550.5	-	8	1176	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N	GABRB3_ENST00000400188.3_Missense_Mutation_p.K284N|GABRB3_ENST00000545868.1_Missense_Mutation_p.K270N|GABRB3_ENST00000299267.4_Missense_Mutation_p.K355N|GABRB3_ENST00000541819.2_Missense_Mutation_p.K411N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	355					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTTTCGCTCTTTGAACGGT	0.473																																						uc001zbb.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1231-1233)aaG>aaC		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						247	266	259					15																	26806094		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:26806094C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1065G>C	15.37:g.26806094C>G	ENSP00000308725:p.Lys355Asn		Somatic				GABRB3_uc021sgg.1_Missense_Mutation_p.K284N|GABRB3_uc021sgh.1_Missense_Mutation_p.K270N|GABRB3_uc001zaz.3_Missense_Mutation_p.K355N|GABRB3_uc001zba.3_Missense_Mutation_p.K355N	p.K411N	NM_001191320	NP_001178249	WXS	Illumina GAIIx	Phase_I	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1336	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	355					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1233G>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491569	0.26774	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.19	1.84	0.25277	Neurotransmitter-gated ion-channel transmembrane domain (2);	38.769200	0.00166	N	0.000000	D	0.83175	0.5197	M	0.64404	1.975	0.20563	N	0.999882	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.12156	0.007;0.005;0.003	T	0.58907	-0.7553	10	0.21540	T	0.41	.	7.8462	0.29426	0.0:0.6015:0.0:0.3985	.	411;355;355	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	355;411;355;284;270	ENSP00000308725:K355N;ENSP00000442408:K411N;ENSP00000299267:K355N;ENSP00000383049:K284N;ENSP00000439169:K270N	ENSP00000299267:K355N	K	-	3	2	GABRB3	24357187	0.979000	0.34478	0.450000	0.26969	0.886000	0.51366	1.027000	0.30115	0.570000	0.29347	0.655000	0.94253	AAG		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			3	178	0	0	0	1	0	3	178					G	26806094	C	G	26806094	3	3	364	1	0	0	0	0	1	0	0	0	6168	912	32	4	364	4	GABRB3	15	26806094	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08		26806094	75725298	17	6216											
TJP1	7082	broad.mit.edu	37	15	30001016	30001016	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:30001016T>C	ENST00000346128.6	-	25	5071	c.4597A>G	c.(4597-4599)Aca>Gca	p.T1533A	TJP1_ENST00000356107.6_Missense_Mutation_p.T1533A|TJP1_ENST00000400011.2_Missense_Mutation_p.T1457A|TJP1_ENST00000545208.2_Missense_Mutation_p.T1453A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1533					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAACTTGTATATGGTTTT	0.403																																					Melanoma(77;681 1843 6309 6570)	uc010azl.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4561-4563)Aca>Gca		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							307	285	292					15																	30001016		1919	4143	6062	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		g.chr15:30001016T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4597A>G	15.37:g.30001016T>C	ENSP00000281537:p.Thr1533Ala		Somatic				TJP1_uc001zcq.3_Missense_Mutation_p.T1457A|TJP1_uc001zcr.3_Missense_Mutation_p.T1533A|TJP1_uc001zcs.3_Missense_Mutation_p.T1453A	p.T1521A	NM_003257	NP_003248	WXS	Illumina GAIIx	Phase_I	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	23	4570	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1533					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4561A>G	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097789	0.76870	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.60548	0.18;0.18	5.65	4.5	0.54988	.	0.048578	0.85682	D	0.000000	T	0.57373	0.2049	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.49090	0.919;0.875;0.864;0.875	P;P;P;P	0.45037	0.452;0.467;0.452;0.467	T	0.61686	-0.7012	10	0.72032	D	0.01	.	12.0253	0.53367	0.1294:0.0:0.0:0.8706	.	1526;1453;1533;1457	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	A	1533;1457;1533;1453;1453	ENSP00000281537:T1533A;ENSP00000382890:T1457A	ENSP00000281537:T1533A	T	-	1	0	TJP1	27788308	1.000000	0.71417	0.138000	0.22173	0.979000	0.70002	7.525000	0.81892	1.113000	0.41760	0.533000	0.62120	ACA		0.403	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		5	305	0	0	0	1	0	5	305					C	30001016	T	C	30001016	3	2	364	1	0	0	0	0	1	0	0	0	15926	1638	57	3	665	3	TJP1	15	30001016	Missense_Mutation	SNP	T	TCGA-FY-A3NM-01A-11D-A21A-08	3194922	30001016	72530376	18	6217											
PLA2G4F	255189	broad.mit.edu	37	15	42434347	42434347	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:42434347C>A	ENST00000382396.4	-	20	2471	c.2385G>T	c.(2383-2385)agG>agT	p.R795S	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R797S			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	795	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGTGTCTGGCCTGTTGATGA	0.567																																						uc001zoz.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2383-2385)agG>agT		Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.							89	78	82					15																	42434347		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434347C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2385G>T	15.37:g.42434347C>A	ENSP00000371833:p.Arg795Ser		Somatic				PLA2G4F_uc010bcq.3_Missense_Mutation_p.R92S|PLA2G4F_uc001zoy.3_Missense_Mutation_p.R427S|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R546S|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R582S	p.R795S	NM_213600	NP_998765	WXS	Illumina GAIIx	Phase_I	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	19	2477	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	795			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.2385G>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	7.499	0.652361	0.14580	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.03920	3.76;3.76	5.21	1.97	0.26223	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.517766	0.18900	N	0.128068	T	0.01592	0.0051	N	0.02247	-0.625	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.47861	-0.9084	10	0.11485	T	0.65	-19.536	4.0488	0.09785	0.0:0.3291:0.2593:0.4116	.	582;797;795	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	S	791;797;795;795	ENSP00000380442:R797S;ENSP00000371833:R795S	ENSP00000290497:R791S	R	-	3	2	PLA2G4F	40221639	0.001000	0.12720	0.934000	0.37439	0.338000	0.28826	-0.394000	0.07296	0.714000	0.32081	0.655000	0.94253	AGG		0.567	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		3	64	0	0	0	1	0	3	64					A	42434347	C	A	42434347	3	1	364	1	0	0	0	0	1	0	0	0	12006	738	26	4	168	4	PLA2G4F	15	42434347	Missense_Mutation	SNP	C	TCGA-FY-A3NM-01A-11D-A21A-08	12433331	42434347	60097045	19	6218											
DPP8	54878	broad.mit.edu	37	15	65739246	65739246	+	Silent	SNP	A	A	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65739246A>C	ENST00000341861.5	-	20	4253	c.2673T>G	c.(2671-2673)cgT>cgG	p.R891R	DPP8_ENST00000300141.6_Silent_p.R875R|DPP8_ENST00000339244.5_Silent_p.R718R|DPP8_ENST00000321147.6_Silent_p.R840R|DPP8_ENST00000358939.4_Silent_p.R775R|DPP8_ENST00000321118.7_Silent_p.R842R|DPP8_ENST00000559233.1_Silent_p.R891R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	891					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGCAGCAATACGTGATCCAA	0.388																																						uc002aov.3																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2671-2673)cgT>cgG		Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.							166	159	161					15																	65739246		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65739246A>C	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.2673T>G	15.37:g.65739246A>C			Somatic				DPP8_uc002aow.3_Silent_p.R891R|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.R875R|DPP8_uc002aox.3_Silent_p.R875R|DPP8_uc002aoy.3_Silent_p.R840R|DPP8_uc002aoz.3_Silent_p.R775R|DPP8_uc010bhj.3_Silent_p.R891R|DPP8_uc010bhi.3_Silent_p.R194R	p.R891R	NM_130434	NP_569118	WXS	Illumina GAIIx	Phase_I	Q6V1X1	DPP8_HUMAN			19	4251	-			891					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.2673T>G	CCDS10207.1																																																																																				0.388	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		53	61	0	0	0	1	0	53	61					C	65739246	A	C	65739246	2	2	364	1	0	0	0	0	0	0	0	1	4732	378	14	5		5	DPP8	15	65739246	Silent	SNP	A	TCGA-FY-A3NM-01A-11D-A21A-08	23304899	65739246	36792146	20	6219											
C15orf44	81556	broad.mit.edu	37	15	65877142	65877142	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr15:65877142T>C	ENST00000395644.4	-	10	1540	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	VWA9_ENST00000569180.1_5'Flank|VWA9_ENST00000567744.1_Missense_Mutation_p.N438S|VWA9_ENST00000420799.2_Missense_Mutation_p.N345S|VWA9_ENST00000569491.1_Missense_Mutation_p.N352S|VWA9_ENST00000442903.3_Missense_Mutation_p.N366S|VWA9_ENST00000431261.2_Missense_Mutation_p.N323S|VWA9_ENST00000313182.2_Missense_Mutation_p.N402S			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	402																	GACAGTCACATTCTGGGCATA	0.468																																						uc010uix.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(1312-1314)aAt>aGt		Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.							149	130	137					15																	65877142		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65877142T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1205A>G	15.37:g.65877142T>C	ENSP00000379006:p.Asn402Ser		Somatic				C15orf44_uc002apd.3_Missense_Mutation_p.N402S|C15orf44_uc010uja.2_Missense_Mutation_p.N384S|C15orf44_uc010ujb.2_Missense_Mutation_p.N345S|C15orf44_uc002ape.4_Missense_Mutation_p.N402S|C15orf44_uc010uiy.2_Missense_Mutation_p.N323S|C15orf44_uc010uiz.2_Missense_Mutation_p.N366S	p.N438S			WXS	Illumina GAIIx	Phase_I	Q96SY0	CO044_HUMAN			9	1701	-			402					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.1313A>G		.	.	.	.	.	.	.	.	.	.	T	13.85	2.361630	0.41801	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	5.65	0.86999	.	0.170574	0.64402	D	0.000006	T	0.49253	0.1546	L	0.33485	1.01	0.58432	D	0.999993	B;B;B;B	0.32101	0.356;0.02;0.134;0.134	B;B;B;B	0.33454	0.164;0.02;0.018;0.018	T	0.47114	-0.9142	9	0.37606	T	0.19	-33.4736	16.0399	0.80667	0.0:0.0:0.0:1.0	.	352;366;438;402	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	S	402;402;323;345;366	.	ENSP00000326379:N402S	N	-	2	0	C15orf44	63664195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.371000	0.80710	0.533000	0.62120	AAT		0.468	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		14	26	0	0	0	1	0	14	26					C	65877142	T	C	65877142	3	2	364	1	0	0	0	0	1	0	0	0	1798	1493	52	3	363	3	C15orf44	15	65877142	Missense_Mutation	SNP	T	TCGA-FY-A3NM-01A-11D-A21A-08	137896	65877142	36654250	21	6220											
CASC3	22794	broad.mit.edu	37	17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	rs139973585		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					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						CATGGTGGCCGGTCTGGTGAG	0.552																																						uc010cwt.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1012-1014)cGg>cAg		Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.		G	GLN/ARG	0,4406		0,0,2203	205	196	199		1013	4.8	1.0	17	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASC3	NM_007359.4	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	338/704	38319961	2,13004	2203	4300	6503	SO:0001583	missense	22794				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding	g.chr17:38319961G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1013G>A	17.37:g.38319961G>A	ENSP00000264645:p.Arg338Gln		Somatic				CASC3_uc010cws.1_Missense_Mutation_p.R338Q|CASC3_uc002hue.3_Missense_Mutation_p.R338Q	p.R338Q	NM_007359	NP_031385	WXS	Illumina GAIIx	Phase_I	O15234	CASC3_HUMAN			6	1308	+			338					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1013G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460726	0.84317	0.0	2.33E-4	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	4.76	0.60689	.	0.368102	0.27159	N	0.020656	T	0.21145	0.0509	N	0.19112	0.55	0.30776	N	0.742493	P;P	0.52692	0.955;0.817	B;B	0.38194	0.267;0.143	T	0.11616	-1.0580	9	0.40728	T	0.16	-15.3922	10.9762	0.47467	0.1447:0.0:0.8553:0.0	.	338;338	B4DKR6;O15234	.;CASC3_HUMAN	Q	338	.	ENSP00000264645:R338Q	R	+	2	0	CASC3	35573487	0.917000	0.31117	1.000000	0.80357	0.982000	0.71751	4.458000	0.60095	2.717000	0.92951	0.655000	0.94253	CGG		0.552	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		4	228	0	0	0	1	0	4	228					A	38319961	G	A	38319961	3	1	364	1	0	0	0	0	1	0	0	0	2661	1116	39	1	1039	1	CASC3	17	38319961	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		38319961	42875249	22	6221											
PLEKHG2	64857	broad.mit.edu	37	19	39913841	39913841	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:39913841G>A	ENST00000409794.3	+	18	2997	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S657N|PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S687N|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	716					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)			TTTTCTGGGAGCAATCCTGGG	0.592																																						uc010xuz.2																			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.(2146-2148)aGc>aAc		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							64	74	70					19																	39913841		2203	4299	6502	SO:0001583	missense	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.chr19:39913841G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2147G>A	19.37:g.39913841G>A	ENSP00000386733:p.Ser716Asn		Somatic				PLEKHG2_uc010xuy.2_Missense_Mutation_p.S657N|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.S494N	p.S716N	NM_022835	NP_073746	WXS	Illumina GAIIx	Phase_I	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)		17	2472	+	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)		716					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.2147G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.691|4.691	0.128497|0.128497	0.08981|0.08981	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.71579	.|-0.44;-0.49;-0.58	5.13|5.13	-2.55|-2.55	0.06288|0.06288	.|.	.|0.812659	.|0.11000	.|N	.|0.610544	T|T	0.52108|0.52108	0.1714|0.1714	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.09022	.|0.002;0.001;0.002	.|B;B;B	.|0.08055	.|0.003;0.002;0.002	T|T	0.45205|0.45205	-0.9277|-0.9277	5|10	.|0.72032	.|D	.|0.01	.|.	5.154|5.154	0.15025|0.15025	0.4672:0.1499:0.3828:0.0|0.4672:0.1499:0.3828:0.0	.|.	.|687;716;657	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	T|N	584|716;687;657	.|ENSP00000386733:S716N;ENSP00000392906:S687N;ENSP00000408857:S657N	.|ENSP00000386733:S716N	A|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44605681|44605681	0.012000|0.012000	0.17670|0.17670	0.000000|0.000000	0.03702|0.03702	0.081000|0.081000	0.17604|0.17604	0.050000|0.050000	0.14120|0.14120	-0.166000|-0.166000	0.10890|0.10890	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.592	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		3	88	0	0	0	1	0	3	88					A	39913841	G	A	39913841	3	1	364	1	0	0	0	0	1	0	0	0	12069	971	34	2	2213	2	PLEKHG2	19	39913841	Missense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		39913841	19215142	23	6222											
NUMBL	9253	broad.mit.edu	37	19	41179384	41179384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr19:41179384delC	ENST00000252891.4	-	8	1068	c.901delG	c.(901-903)gttfs	p.V301fs	NUMBL_ENST00000540131.1_Frame_Shift_Del_p.V260fs|NUMBL_ENST00000598779.1_Frame_Shift_Del_p.V260fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	301					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CCCTGGCGAACCAGCTGCTCC	0.657																																						uc002oon.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(901-903)gttfs		Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.							26	22	24					19																	41179384		2202	4297	6499	SO:0001589	frameshift_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41179384delC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.901delG	19.37:g.41179384delC	ENSP00000252891:p.Val301fs		Somatic				NUMBL_uc010xvq.2_Frame_Shift_Del_p.V260fs|NUMBL_uc010xvr.2_Frame_Shift_Del_p.V260fs|NUMBL_uc002ooo.3_Frame_Shift_Del_p.V300fs	p.V301fs	NM_004756	NP_004747	WXS	Illumina GAIIx	Phase_I	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		7	1069	-			301					Q7Z4J9	Frame_Shift_Del	DEL	ENST00000252891.4	37	c.901delG	CCDS12561.1																																																																																				0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	4						2	4	---	---	---	---	-	41179384	C	-	41179384	7	5	364	1	0	1	0	1	0	0	0	0	10752	507	18	0	940	0	NUMBL	19	41179384	Frame_Shift_Del	DEL	C	TCGA-FY-A3NM-01A-11D-A21A-08	1265543	41179384	17949599	24	6223											
SIRPD	128646	broad.mit.edu	37	20	1532407	1532407	+	Nonsense_Mutation	SNP	G	G	T	rs376805676		TCGA-FY-A3NM-01A-11D-A21A-08	TCGA-FY-A3NM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a1ddc14-ba55-4811-98e4-4f15657410e6	7b5118e4-3bde-4fce-a1a3-81798b30420f	g.chr20:1532407G>T	ENST00000381623.3	-	2	1540	c.351C>A	c.(349-351)tgC>tgA	p.C117*	SIRPD_ENST00000381621.1_Nonsense_Mutation_p.C117*			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	117	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGAACTTCACGCAGTAATAGG	0.493																																						uc002wfi.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(349-351)tgC>tgA		Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.							150	144	146					20																	1532407		2203	4300	6503	SO:0001587	stop_gained	128646					extracellular region		g.chr20:1532407G>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.351C>A	20.37:g.1532407G>T	ENSP00000371036:p.Cys117*		Somatic					p.C117*	NM_178460	NP_848555	WXS	Illumina GAIIx	Phase_I	Q9H106	SIRPD_HUMAN			1	395	-			117			Ig-like V-type.		B3KS88|Q5TFQ6	Nonsense_Mutation	SNP	ENST00000381623.3	37	c.351C>A	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	g	11.85	1.762526	0.31228	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	.	.	.	3.69	-4.1	0.03940	.	0.000000	0.43110	U	0.000601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7681	0.40574	0.7489:0.0:0.2511:0.0	.	.	.	.	X	117	.	ENSP00000371034:C117X	C	-	3	2	SIRPD	1480407	0.973000	0.33851	0.286000	0.24833	0.158000	0.22134	-0.148000	0.10219	-1.318000	0.02289	-0.966000	0.02617	TGC		0.493	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		3	98	0	0	0	1	0	3	98					T	1532407	G	T	1532407	4	4	364	1	0	0	0	0	0	1	0	0	14335	1079	38	4	254	4	SIRPD	20	1532407	Nonsense_Mutation	SNP	G	TCGA-FY-A3NM-01A-11D-A21A-08		1532407	61493113	25	6224											
C1orf151	440574	broad.mit.edu	37	1	19948613	19948613	+	Silent	SNP	A	A	T			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:19948613A>T	ENST00000322753.6	+	2	140	c.84A>T	c.(82-84)ggA>ggT	p.G28G	MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1	28						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											TTGGATTAGGAATTGTTTTCT	0.343																																						uc021ohu.1																			0											c.(82-84)ggA>ggT		Homo sapiens mitochondrial inner membrane organizing system 1 (MINOS1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.							235	197	210					1																	19948613		2201	4299	6500	SO:0001819	synonymous_variant	440574					integral to membrane|mitochondrion		g.chr1:19948613A>T	AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 151"	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.84A>T	1.37:g.19948613A>T			Somatic				MINOS1_uc001bch.2_Non-coding_Transcript|MINOS1_uc001bci.2_Silent_p.G28G|MINOS1_uc021oht.1_Intron|MINOS1_uc021ohv.1_Non-coding_Transcript|NBL1_uc021ohw.1_Intron|NBL1_uc009vpl.2_Intron	p.G28G	NM_001204083	NP_001191012	WXS	Illumina GAIIx	Phase_I	Q5TGZ0	CA151_HUMAN			1	153	+			28					Q96G68	Silent	SNP	ENST00000322753.6	37	c.84A>T	CCDS30620.1																																																																																				0.343	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007697.2	NM_001032363		8	36	0	0	0	1	0	8	36					T	19948613	A	T	19948613	2	4	365	1	0	0	0	0	0	0	0	1	2005	233	9	5		5	C1orf151	1	19948613	Silent	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08		19948613	229302008	1	6225											
PTPRU	10076	broad.mit.edu	37	1	29586031	29586031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:29586031C>A	ENST00000345512.3	+	5	759	c.630C>A	c.(628-630)tgC>tgA	p.C210*	PTPRU_ENST00000428026.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.C210*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.C210*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.C210*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	210	Ig-like C2-type.				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)		CGTTCCAGTGCATGGCCGCGG	0.687																																						uc001bru.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.(628-630)tgC>tgA		Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.							22	26	25					1																	29586031		2201	4296	6497	SO:0001587	stop_gained	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.chr1:29586031C>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.630C>A	1.37:g.29586031C>A	ENSP00000334941:p.Cys210*		Somatic				PTPRU_uc009vtq.3_Nonsense_Mutation_p.C210*|PTPRU_uc009vtr.3_Nonsense_Mutation_p.C210*|PTPRU_uc001brw.3_Nonsense_Mutation_p.C210*	p.C210*	NM_005704	NP_005695	WXS	Illumina GAIIx	Phase_I	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)	4	759	+		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)	210			Ig-like C2-type.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	c.630C>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	38	7.108432	0.98070	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	4.61	2.73	0.32206	.	0.067820	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5532	0.22446	0.0:0.6054:0.0:0.3946	.	.	.	.	X	210	.	.	C	+	3	2	PTPRU	29458618	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.895000	0.28363	0.400000	0.25396	0.456000	0.33151	TGC		0.687	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			3	58	0	0	0	1	0	3	58					A	29586031	C	A	29586031	4	1	365	1	0	0	0	0	0	1	0	0	12813	718	25	4	648	4	PTPRU	1	29586031	Nonsense_Mutation	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08	9637418	29586031	219664590	2	6226											
TTC21B	79809	broad.mit.edu	37	2	166770121	166770121	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr2:166770121A>G	ENST00000243344.7	-	16	2311	c.2174T>C	c.(2173-2175)tTt>tCt	p.F725S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	725					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAGGAGAAGAAAAGACCGAGG	0.323																																						uc002udk.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(2173-2175)tTt>tCt		Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.							96	99	98					2																	166770121		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166770121A>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2174T>C	2.37:g.166770121A>G	ENSP00000243344:p.Phe725Ser		Somatic					p.F725S	NM_024753	NP_079029	WXS	Illumina GAIIx	Phase_I	Q7Z4L5	TT21B_HUMAN			15	2307	-			725					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2174T>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	7.403	0.633145	0.14322	.	.	ENSG00000123607	ENST00000243344	T	0.55234	0.53	5.23	5.23	0.72850	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.161705	0.56097	D	0.000031	T	0.35393	0.0930	N	0.20401	0.57	0.80722	D	1	B	0.24132	0.098	B	0.23419	0.046	T	0.17806	-1.0357	10	0.22706	T	0.39	-11.0818	10.3574	0.43972	0.8535:0.0:0.0:0.1465	.	725	Q7Z4L5	TT21B_HUMAN	S	725	ENSP00000243344:F725S	ENSP00000243344:F725S	F	-	2	0	TTC21B	166478367	1.000000	0.71417	0.990000	0.47175	0.383000	0.30230	3.204000	0.51082	1.966000	0.57179	0.482000	0.46254	TTT		0.323	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		18	51	0	0	0	1	0	18	51					G	166770121	A	G	166770121	3	3	365	1	0	0	0	0	1	0	0	0	16685	14	1	3	1832	3	TTC21B	2	166770121	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08		166770121	76429252	3	6227											
TWF2	11344	broad.mit.edu	37	3	52266070	52266070	+	Silent	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr3:52266070G>A	ENST00000305533.5	-	3	415	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	TWF2_ENST00000499914.2_Silent_p.L58L|TLR9_ENST00000494383.1_5'Flank|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	58	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				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)		AGCAGTGGCAGCACGGCCCTG	0.662											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ddd.3																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(172-174)Ctg>Ttg		Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	Chloroquine(DB00608)						67	61	63					3																	52266070		2203	4300	6503	SO:0001819	synonymous_variant	54106				I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52266070G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		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		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.172C>T	3.37:g.52266070G>A			Somatic	OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	983	TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank	p.L58L	NM_007284	NP_009215	WXS	Illumina GAIIx	Phase_I	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	323	-			0					Q9Y3F5	Silent	SNP	ENST00000305533.5	37	c.172C>T	CCDS2849.1																																																																																				0.662	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			3	41	0	0	0	1	0	3	41					A	52266070	G	A	52266070	2	1	365	1	0	0	0	0	0	0	0	1	16779	962	34	2		2	TWF2	3	52266070	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		52266070	145756360	4	6228											
DNAH1	25981	broad.mit.edu	37	3	52402841	52402841	+	Silent	SNP	G	G	A	rs374690567		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2. {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)		TCGATGGGCCGGTGGATGCCA	0.572																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5848-5850)ccG>ccA		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.		G		0,4196		0,0,2098	137	142	140		5850	-9.9	0.2	3		140	6,8466		0,6,4230	no	coding-synonymous	DNAH1	NM_015512.4		0,6,6328	AA,AG,GG		0.0708,0.0,0.0474		1950/4266	52402841	6,12662	2098	4236	6334	SO:0001819	synonymous_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.chr3:52402841G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5850G>A	3.37:g.52402841G>A			Somatic					p.P1950P	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	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)	36	6111	+			1950			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5850G>A	CCDS46842.1																																																																																				0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	237	0	0	0	1	0	4	237					A	52402841	G	A	52402841	2	1	365	1	0	0	0	0	0	0	0	1	4597	1103	39	1		1	DNAH1	3	52402841	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08	136771	52402841	145619589	5	6229											
MTHFD2L	441024	broad.mit.edu	37	4	75147202	75147202	+	Missense_Mutation	SNP	G	G	A	rs370803008		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr4:75147202G>A	ENST00000395759.2	+	7	893	c.866G>A	c.(865-867)gGt>gAt	p.G289D	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G231D	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	289					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATTGATGTGGGTATCAACTAT	0.368																																						uc011cbk.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(865-867)gGt>gAt		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.							151	150	150					4																	75147202		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75147202G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.866G>A	4.37:g.75147202G>A	ENSP00000379108:p.Gly289Asp		Somatic				MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	p.G289D	NM_001144978	NP_001138450	WXS	Illumina GAIIx	Phase_I	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		6	893	+			231					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.866G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921815	0.92319	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.76448	-1.02;-1.02;-1.02	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	H	0.99825	4.815	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.96610	0.9451	10	0.87932	D	0	-31.0348	17.5681	0.87926	0.0:0.0:1.0:0.0	.	289	Q9H903	MTD2L_HUMAN	D	289;231;231	ENSP00000379108:G289D;ENSP00000352012:G231D;ENSP00000321984:G231D	ENSP00000321984:G231D	G	+	2	0	MTHFD2L	75366066	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.319000	0.79040	2.753000	0.94483	0.580000	0.79431	GGT		0.368	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		3	50	0	0	0	1	0	3	50					A	75147202	G	A	75147202	3	1	365	1	0	0	0	0	1	0	0	0	9930	1261	44	2	892	2	MTHFD2L	4	75147202	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		75147202	116007074	6	6230											
CDH12	1010	broad.mit.edu	37	5	21817055	21817055	+	Splice_Site	SNP	T	T	C			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr5:21817055T>C	ENST00000382254.1	-	9	2087	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Splice_Site_p.K294R|CDH12_ENST00000504376.2_Splice_Site_p.K334R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTATATACCTTTTTCAATTT	0.294										HNSCC(59;0.17)																												uc010iuc.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.e6+1		Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.							124	124	124					5																	21817055		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817055T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1002+1A>G	5.37:g.21817055T>C		HNSCC(59;0.17)	Somatic				CDH12_uc011cno.1_Splice_Site_p.K294_splice|CDH12_uc003jgk.2_Splice_Site_p.K334_splice	p.K334_splice	NM_004061	NP_004052	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			6	1460	-			334			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	ENST00000382254.1	37	c.1002_splice	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885705	0.51908	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55413	0.52;0.52;0.52	5.06	5.06	0.68205	Cadherin (5);Cadherin-like (1);	0.157125	0.64402	D	0.000018	T	0.61413	0.2345	M	0.65677	2.01	0.47374	D	0.999409	B;B	0.26902	0.163;0.013	B;B	0.40477	0.33;0.012	T	0.65216	-0.6222	10	0.87932	D	0	.	15.1071	0.72329	0.0:0.0:0.0:1.0	.	294;334	B7Z2U6;P55289	.;CAD12_HUMAN	R	334;334;294	ENSP00000423577:K334R;ENSP00000371689:K334R;ENSP00000428786:K294R	ENSP00000371689:K334R	K	-	2	0	CDH12	21852812	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.581000	0.53914	2.009000	0.58944	0.528000	0.53228	AAG		0.294	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Missense_Mutation	3	109	0	0	0	1	0	3	109					C	21817055	T	C	21817055	5	2	365	1	0	0	0	0	0	0	1	0	3098	1623	56	3	1411	3	CDH12	5	21817055	Splice_Site	SNP	T	TCGA-FY-A3NN-01A-11D-A21A-08		21817055	159098205	7	6231											
COBL	23242	broad.mit.edu	37	7	51111289	51111289	+	Silent	SNP	C	C	T			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr7:51111289C>T	ENST00000265136.7	-	8	1362	c.1197G>A	c.(1195-1197)gcG>gcA	p.A399A	COBL_ENST00000395542.2_Silent_p.A481A	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	399					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)					TGTCCTCCGACGCAAAACAGC	0.607																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tps.3																			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.(1366-1368)gcG>gcA		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							101	83	89					7																	51111289		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51111289C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1197G>A	7.37:g.51111289C>T			Somatic				COBL_uc003tpr.4_Silent_p.A399A|COBL_uc011kcl.2_Silent_p.A399A|COBL_uc010kzc.3_Silent_p.A399A|COBL_uc003tpp.4_Silent_p.A185A|COBL_uc003tpq.4_Silent_p.A340A	p.A456A	NM_015198	NP_056013	WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			8	1553	-	Glioma(55;0.08)		399					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1368G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.064484	0.01934	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.24316	N	0.995064	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	.	3.7428	0.08537	0.1335:0.1771:0.4089:0.2804	.	.	.	.	I	375	.	.	V	-	1	0	COBL	51078783	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-4.806000	0.00183	-6.320000	0.00005	-0.736000	0.03550	GTC		0.607	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		5	93	0	0	0	1	0	5	93					T	51111289	C	T	51111289	2	4	365	1	0	0	0	0	0	0	0	1	3653	523	19	1		1	COBL	7	51111289	Silent	SNP	C	TCGA-FY-A3NN-01A-11D-A21A-08		51111289	108027374	8	6232											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	60	0	0	0	1	0	28	60					T	140453136	A	T	140453136	3	4	365	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08	89341847	140453136	18685527	9	6233											
COL22A1	169044	broad.mit.edu	37	8	139658912	139658912	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:139658912G>A	ENST00000303045.6	-	47	3907	c.3461C>T	c.(3460-3462)cCt>cTt	p.P1154L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1134L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1154	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			TAGGCCTGGAGGCCCAGCCTC	0.493										HNSCC(7;0.00092)																												uc003yvd.3																			0		p.P1154S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3460-3462)cCt>cTt		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							25	24	24					8																	139658912		2201	4292	6493	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139658912G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3461C>T	8.37:g.139658912G>A	ENSP00000303153:p.Pro1154Leu	HNSCC(7;0.00092)	Somatic				COL22A1_uc011ljo.2_Missense_Mutation_p.P434L	p.P1154L	NM_152888	NP_690848	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3908	-	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)		1154			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3461C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	0.448	-0.894989	0.02491	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97066	-4.23;-4.23	5.46	3.29	0.37713	.	0.427444	0.19785	N	0.106138	D	0.93877	0.8041	L	0.60904	1.88	0.21579	N	0.999636	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	D	0.85230	0.1032	10	0.28530	T	0.3	.	5.4872	0.16757	0.3327:0.0:0.6673:0.0	.	1134;1154	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1154;1134;847	ENSP00000303153:P1154L;ENSP00000387655:P1134L	ENSP00000303153:P1154L	P	-	2	0	COL22A1	139728094	0.626000	0.27120	0.041000	0.18516	0.013000	0.08279	1.688000	0.37690	1.441000	0.47550	0.655000	0.94253	CCT		0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	5	0	0	0	1	0	3	5					A	139658912	G	A	139658912	3	1	365	1	0	0	0	0	1	0	0	0	3681	1000	35	2	1495	2	COL22A1	8	139658912	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		139658912	6705110	10	6234											
ZNF623	9831	broad.mit.edu	37	8	144733418	144733418	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:144733418A>G	ENST00000501748.2	+	1	1465	c.1376A>G	c.(1375-1377)tAt>tGt	p.Y459C	ZNF623_ENST00000458270.2_Missense_Mutation_p.Y419C|ZNF623_ENST00000526926.1_Missense_Mutation_p.Y419C	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	459					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(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAAAGCCCTATGTGTGCAGT	0.443																																						uc003yzd.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1375-1377)tAt>tGt		Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.							98	94	95					8																	144733418		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733418A>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1376A>G	8.37:g.144733418A>G	ENSP00000445979:p.Tyr459Cys		Somatic				ZNF623_uc011lkp.1_Missense_Mutation_p.Y419C|ZNF623_uc003yzc.2_Missense_Mutation_p.Y419C	p.Y459C	NM_014789	NP_055604	WXS	Illumina GAIIx	Phase_I	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		0	1465	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		459					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1376A>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855414	0.32791	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.69306	-0.39;-0.39;-0.39	4.65	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.69463	2.115	0.25398	N	0.988464	D	0.89917	1.0	D	0.70935	0.971	T	0.63747	-0.6567	9	0.87932	D	0	-15.7182	5.4455	0.16533	0.6438:0.1815:0.0:0.1747	.	459	O75123	ZN623_HUMAN	C	419;419;419;459;459	ENSP00000435232:Y419C;ENSP00000411139:Y419C;ENSP00000445979:Y459C	ENSP00000330358:Y419C	Y	+	2	0	ZNF623	144804561	0.178000	0.23122	0.791000	0.31998	0.567000	0.35839	0.891000	0.28309	0.697000	0.31718	0.402000	0.26972	TAT		0.443	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		34	50	0	0	0	1	0	34	50					G	144733418	A	G	144733418	3	3	365	1	0	0	0	0	1	0	0	0	18044	449	16	3	1378	3	ZNF623	8	144733418	Missense_Mutation	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08	5074506	144733418	1630604	11	6235											
SLC27A4	10999	broad.mit.edu	37	9	131112801	131112801	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr9:131112801G>A	ENST00000300456.4	+	6	941	c.824G>A	c.(823-825)cGc>cAc	p.R275H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	275					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TATGGATTCCGCATGCGGCCC	0.607																																					Pancreas(107;1554 2241 10946 12953)	uc004but.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(823-825)cGc>cAc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.							80	61	67					9																	131112801		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112801G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.824G>A	9.37:g.131112801G>A	ENSP00000300456:p.Arg275His		Somatic				SLC27A4_uc004buu.3_Intron	p.R275H	NM_005094	NP_005085	WXS	Illumina GAIIx	Phase_I	Q6P1M0	S27A4_HUMAN			5	1109	+			275					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.824G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036047	0.54896	.	.	ENSG00000167114	ENST00000300456	T	0.50001	0.76	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.115675	0.56097	D	0.000026	T	0.65322	0.2680	M	0.66439	2.03	0.58432	D	0.999999	D	0.56521	0.976	P	0.61722	0.893	T	0.67604	-0.5628	10	0.62326	D	0.03	-17.7007	17.6262	0.88095	0.0:0.0:1.0:0.0	.	275	Q6P1M0	S27A4_HUMAN	H	275	ENSP00000300456:R275H	ENSP00000300456:R275H	R	+	2	0	SLC27A4	130152622	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	7.430000	0.80321	2.639000	0.89480	0.563000	0.77884	CGC		0.607	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			3	36	0	0	0	1	0	3	36					A	131112801	G	A	131112801	3	1	365	1	0	0	0	0	1	0	0	0	14528	1087	38	1	842	1	SLC27A4	9	131112801	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		131112801	10100630	12	6236											
FGF3	2248	broad.mit.edu	37	11	69625427	69625427	+	Silent	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr11:69625427G>A	ENST00000334134.2	-	3	456	c.366C>T	c.(364-366)caC>caT	p.H122H		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	122					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.H122Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCCCAGCTCGTGGATCCGCT	0.647																																						uc001oph.3																			1	Substitution - Missense(1)	p.H122Q(2)|p.H122N(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(364-366)caC>caT		Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.							41	46	45					11																	69625427		2198	4289	6487	SO:0001819	synonymous_variant	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69625427G>A		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.366C>T	11.37:g.69625427G>A			Somatic					p.H122H	NM_005247	NP_005238	WXS	Illumina GAIIx	Phase_I	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	857	-			122					Q0VG69	Silent	SNP	ENST00000334134.2	37	c.366C>T	CCDS8195.1																																																																																				0.647	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		7	174	0	0	0	1	0	7	174					A	69625427	G	A	69625427	2	1	365	1	0	0	0	0	0	0	0	1	5853	1136	40	1		1	FGF3	11	69625427	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		69625427	65381089	13	6237											
F10	2159	broad.mit.edu	37	13	113803259	113803259	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr13:113803259G>A	ENST00000375559.3	+	8	933	c.895G>A	c.(895-897)Ggt>Agt	p.G299S	F10_ENST00000375551.3_Silent_p.A295A|F10_ENST00000409306.1_Silent_p.A297A	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	299	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGAGGAGGGCGGTGAGGCGGT	0.602																																						uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(895-897)Ggt>Agt		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						167	140	149					13																	113803259		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803259G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.895G>A	13.37:g.113803259G>A	ENSP00000364709:p.Gly299Ser		Somatic				F10_uc001vsy.3_Silent_p.A295A	p.G299S	NM_000504	NP_000495	WXS	Illumina GAIIx	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	952	+	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	299			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.895G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	1.511	-0.549503	0.03996	.	.	ENSG00000126218	ENST00000375559	D	0.88509	-2.39	4.99	0.202	0.15190	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.381760	0.04666	N	0.409883	T	0.74974	0.3787	N	0.16201	0.385	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.60697	-0.7212	10	0.08381	T	0.77	.	2.1398	0.03772	0.5024:0.1176:0.2656:0.1144	.	299	P00742	FA10_HUMAN	S	299	ENSP00000364709:G299S	ENSP00000364709:G299S	G	+	1	0	F10	112851260	0.024000	0.19004	0.017000	0.16124	0.135000	0.20990	0.808000	0.27154	-0.198000	0.10333	0.313000	0.20887	GGT		0.602	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			6	321	0	0	0	1	0	6	321					A	113803259	G	A	113803259	3	1	365	1	0	0	0	0	1	0	0	0	5336	1116	39	1	925	1	F10	13	113803259	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		113803259	1366619	14	6238											
STON2	85439	broad.mit.edu	37	14	81743303	81743303	+	Silent	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr14:81743303G>A	ENST00000267540.2	-	4	2552	c.2352C>T	c.(2350-2352)taC>taT	p.Y784Y	STON2_ENST00000555447.1_Silent_p.Y784Y|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	784	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCATGCTCGTACTTGGCAG	0.493																																						uc001xvk.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2350-2352)taC>taT		Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.							124	123	124					14																	81743303		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743303G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2352C>T	14.37:g.81743303G>A			Somatic				STON2_uc010tvu.2_Silent_p.Y784Y|STON2_uc010tvt.2_Silent_p.Y581Y	p.Y784Y	NM_033104	NP_149095	WXS	Illumina GAIIx	Phase_I	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	5	2765	-			784			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.2352C>T	CCDS9875.1																																																																																				0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		5	166	0	0	0	1	0	5	166					A	81743303	G	A	81743303	2	1	365	1	0	0	0	0	0	0	0	1	15317	1140	40	1		1	STON2	14	81743303	Silent	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		81743303	25606237	15	6239											
ITGAM	3684	broad.mit.edu	37	16	31336828	31336828	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr16:31336828G>A	ENST00000287497.8	+	21	2588	c.2513G>A	c.(2512-2514)cGc>cAc	p.R838H	ITGAM_ENST00000544665.3_Missense_Mutation_p.R839H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	838					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGAACCAGCGCTCACAGCGA	0.602																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(2515-2517)cGc>cAc		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							63	67	66					16																	31336828		2089	4212	6301	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336828G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2513G>A	16.37:g.31336828G>A	ENSP00000287497:p.Arg838His		Somatic				ITGAM_uc002ebq.3_Missense_Mutation_p.R838H|ITGAM_uc010can.3_Missense_Mutation_p.R244H|ITGAM_uc002ebs.1_Missense_Mutation_p.R244H	p.R839H	NM_001145808	NP_001139280	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			20	2614	+			838					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2516G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407693	0.11754	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47177	0.85;0.85	4.87	-9.74	0.00509	Integrin alpha-2 (1);	.	.	.	.	T	0.23171	0.0560	L	0.34521	1.04	0.09310	N	1	B;B;B	0.22080	0.064;0.02;0.02	B;B;B	0.18561	0.015;0.022;0.022	T	0.11012	-1.0605	9	0.13853	T	0.58	.	2.2913	0.04139	0.4962:0.1783:0.1195:0.206	.	244;838;838	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	H	839;838	ENSP00000441691:R839H;ENSP00000287497:R838H	ENSP00000287497:R838H	R	+	2	0	ITGAM	31244329	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.251000	0.01186	-2.754000	0.00373	-1.008000	0.02478	CGC		0.602	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		36	48	0	0	0	1	0	36	48					A	31336828	G	A	31336828	3	1	365	1	0	0	0	0	1	0	0	0	7887	1087	38	1	2598	1	ITGAM	16	31336828	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		31336828	59017925	16	6240											
KRT33A	3883	broad.mit.edu	37	17	39504836	39504836	+	Missense_Mutation	SNP	G	G	A	rs367617704		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:39504836G>A	ENST00000007735.3	-	3	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	163	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGATCCTGCGCAGGCCATTG	0.607																																						uc002hwk.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(487-489)Cgc>Tgc		Homo sapiens keratin 33A (KRT33A), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	85	88		487	4.3	1.0	17		88	0,8600		0,0,4300	no	missense	KRT33A	NM_004138.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	163/405	39504836	1,13005	2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39504836G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.487C>T	17.37:g.39504836G>A	ENSP00000007735:p.Arg163Cys		Somatic					p.R163C	NM_004138	NP_004129	WXS	Illumina GAIIx	Phase_I	O76009	KT33A_HUMAN			2	524	-		Breast(137;0.000496)	163			Coil 1B.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.487C>T	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269490	0.80469	2.27E-4	0.0	ENSG00000006059	ENST00000007735	D	0.92545	-3.06	5.26	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000003	D	0.95626	0.8578	M	0.78916	2.43	0.51767	D	0.999938	D	0.89917	1.0	D	0.81914	0.995	D	0.96132	0.9093	10	0.87932	D	0	.	14.6213	0.68588	0.0:0.0:0.8536:0.1464	.	163	O76009	KT33A_HUMAN	C	163	ENSP00000007735:R163C	ENSP00000007735:R163C	R	-	1	0	KRT33A	36758362	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.890000	0.39728	1.445000	0.47624	0.655000	0.94253	CGC		0.607	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		4	170	0	0	0	1	0	4	170					A	39504836	G	A	39504836	3	1	365	1	0	0	0	0	1	0	0	0	8469	1087	38	1	747	1	KRT33A	17	39504836	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08		39504836	41690374	17	6241											
PPM1D	8493	broad.mit.edu	37	17	58740503	58740503	+	Missense_Mutation	SNP	G	G	A	rs377665493		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:58740503G>A	ENST00000305921.3	+	6	1640	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	470					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCCTCAAAAGATCCAGAACC	0.423											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1408-1410)Gat>Aat		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.		G	ASN/ASP	0,4406		0,0,2203	105	99	101		1408	5.1	1.0	17		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPM1D	NM_003620.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	470/606	58740503	1,13005	2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740503G>A	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1408G>A	17.37:g.58740503G>A	ENSP00000306682:p.Asp470Asn		Somatic	OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.D470N	NM_003620	NP_003611	WXS	Illumina GAIIx	Phase_I	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1640	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		470					Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.1408G>A	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723430	0.48728	0.0	1.16E-4	ENSG00000170836	ENST00000305921	T	0.51325	0.71	6.08	5.12	0.69794	.	0.185848	0.56097	D	0.000035	T	0.35828	0.0945	L	0.32530	0.975	0.36022	D	0.838805	B	0.15141	0.012	B	0.09377	0.004	T	0.36866	-0.9730	10	0.30078	T	0.28	-21.112	11.4126	0.49933	0.1372:0.0:0.8628:0.0	.	470	O15297	PPM1D_HUMAN	N	470	ENSP00000306682:D470N	ENSP00000306682:D470N	D	+	1	0	PPM1D	56095285	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.031000	0.64134	1.591000	0.50007	0.591000	0.81541	GAT		0.423	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		3	59	0	0	0	1	0	3	59					A	58740503	G	A	58740503	3	1	365	1	0	0	0	0	1	0	0	0	12337	942	33	2	1430	2	PPM1D	17	58740503	Missense_Mutation	SNP	G	TCGA-FY-A3NN-01A-11D-A21A-08	19235667	58740503	22454707	18	6242											
ZNF493	284443	broad.mit.edu	37	19	21606565	21606565	+	Silent	SNP	A	A	G			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr19:21606565A>G	ENST00000355504.4	+	2	986	c.720A>G	c.(718-720)aaA>aaG	p.K240K	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.K368K	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	240					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(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTACACATAAAAGAATTCATA	0.358																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1102-1104)aaA>aaG		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							44	49	48					19																	21606565		2198	4291	6489	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606565A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.720A>G	19.37:g.21606565A>G			Somatic				ZNF493_uc002npx.3_Silent_p.K240K|ZNF493_uc002npy.3_Silent_p.K240K|ZNF493_uc021urq.1_Silent_p.K240K	p.K368K	NM_001076678	NP_787106	WXS	Illumina GAIIx	Phase_I	Q6ZR52	ZN493_HUMAN			3	1223	+			240					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1104A>G	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	73	0	0	0	1	0	3	73					G	21606565	A	G	21606565	2	3	365	1	0	0	0	0	0	0	0	1	17941	11	1	3		3	ZNF493	19	21606565	Silent	SNP	A	TCGA-FY-A3NN-01A-11D-A21A-08		21606565	37522418	19	6243											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		39	71	0	0	0	1	0	39	71					C	115256529	T	C	115256529	3	2	366	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-FY-A3NP-01A-11D-A21A-08		115256529	133994092	1	6244											
ATP1A2	477	broad.mit.edu	37	1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr1:160106465G>A	ENST00000361216.3	+	19	2758	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R890Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	890					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)			TGGGATGACCGGACCATGAAT	0.552																																						uc001fvc.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.(2668-2670)cGg>cAg		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							97	87	91					1																	160106465		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106465G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2669G>A	1.37:g.160106465G>A	ENSP00000354490:p.Arg890Gln		Somatic				ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	p.R890Q	NM_000702	NP_000693	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		18	2801	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		890					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2669G>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367881|3.367881	0.61513|0.61513	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.88664	.|-2.41;-2.41	4.71|4.71	4.71|4.71	0.59529|0.59529	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79441|0.79441	0.4446|0.4446	L|L	0.43757|0.43757	1.38|1.38	0.48452|0.48452	D|D	0.999657|0.999657	.|B;B	.|0.18610	.|0.029;0.015	.|B;B	.|0.15870	.|0.013;0.014	T|T	0.76353|0.76353	-0.2990|-0.2990	5|10	.|0.38643	.|T	.|0.18	.|.	15.5314|15.5314	0.75964|0.75964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|790;890	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	R|Q	584|890;890;593	.|ENSP00000354490:R890Q;ENSP00000376066:R890Q	.|ENSP00000354490:R890Q	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158373089|158373089	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.368000|4.368000	0.59505|0.59505	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.552	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		3	61	0	0	0	1	0	3	61					A	160106465	G	A	160106465	3	1	366	1	0	0	0	0	1	0	0	0	1129	1116	39	1	2743	1	ATP1A2	1	160106465	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	44849936	160106465	89144156	2	6245											
KCNH7	90134	broad.mit.edu	37	2	163302758	163302758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr2:163302758G>A	ENST00000332142.5	-	7	1423	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R435*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	442					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R442*(1)|p.R435*(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCACATTCTCGTCTTTTCTGT	0.383																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.2																			2	Substitution - Nonsense(2)	p.R442*(2)|p.R442Q(1)|p.R442P(1)|p.R435*(1)	endometrium(2)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1324-1326)Cga>Tga		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	Ibutilide(DB00308)						93	81	85					2																	163302758		2203	4299	6502	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302758G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1324C>T	2.37:g.163302758G>A	ENSP00000331727:p.Arg442*		Somatic				KCNH7_uc002uci.3_Nonsense_Mutation_p.R435*	p.R442*	NM_033272	NP_150375	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			6	1553	-			442					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.1324C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	37	6.064184	0.97251	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	5.7	2.47	0.30058	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6513	0.85203	0.0:0.0:0.61:0.39	.	.	.	.	X	442;435	.	ENSP00000333781:R435X	R	-	1	2	KCNH7	163011004	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	2.511000	0.45476	0.697000	0.31718	0.650000	0.86243	CGA		0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		15	16	0	0	0	1	0	15	16					A	163302758	G	A	163302758	4	1	366	1	0	0	0	0	0	1	0	0	8037	1153	40	1	2372	1	KCNH7	2	163302758	Nonsense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		163302758	79896615	3	6246											
LETM1	3954	broad.mit.edu	37	4	1843468	1843468	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:1843468C>A	ENST00000302787.2	-	3	496	c.200G>T	c.(199-201)gGc>gTc	p.G67V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	67					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GAGGTGATCGCCTCTGGAGGA	0.552																																						uc003gdv.3																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(199-201)gGc>gTc		Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.							54	55	55					4																	1843468		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843468C>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.200G>T	4.37:g.1843468C>A	ENSP00000305653:p.Gly67Val		Somatic				LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Missense_Mutation_p.G67V	p.G67V	NM_012318	NP_036450	WXS	Illumina GAIIx	Phase_I	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		2	497	-			67					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.200G>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269859	0.23221	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	.	.	.	4.3	-0.546	0.11840	.	1.583540	0.02965	N	0.143641	T	0.24547	0.0595	L	0.36672	1.1	0.09310	N	0.999999	P;B	0.34724	0.465;0.335	B;B	0.31101	0.124;0.058	T	0.08066	-1.0740	9	0.12430	T	0.62	-1.353	5.3765	0.16168	0.0:0.3268:0.2717:0.4015	.	67;67	O95202-3;O95202	.;LETM1_HUMAN	V	67;27	.	ENSP00000305653:G67V	G	-	2	0	LETM1	1813266	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.517000	0.06275	-0.393000	0.07739	0.563000	0.77884	GGC		0.552	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			7	26	0	0	0	1	0	7	26					A	1843468	C	A	1843468	3	1	366	1	0	0	0	0	1	0	0	0	8734	739	26	4	2067	4	LETM1	4	1843468	Missense_Mutation	SNP	C	TCGA-FY-A3NP-01A-11D-A21A-08		1843468	189310808	4	6247											
ENPEP	2028	broad.mit.edu	37	4	111398204	111398204	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr4:111398204G>A	ENST00000265162.5	+	1	976	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	212					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CACGGAGAACGGACAAGTCAA	0.453																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(634-636)Gga>Aga		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						37	41	40					4																	111398204		2203	4299	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398204G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.634G>A	4.37:g.111398204G>A	ENSP00000265162:p.Gly212Arg		Somatic					p.G212R	NM_001977	NP_001968	WXS	Illumina GAIIx	Phase_I	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	0	976	+		Hepatocellular(203;0.217)	212					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.634G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759380	0.69763	.	.	ENSG00000138792	ENST00000265162	T	0.05786	3.39	5.57	3.83	0.44106	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.261632	0.39146	N	0.001444	T	0.28034	0.0691	M	0.90814	3.15	0.52501	D	0.999959	D	0.76494	0.999	D	0.68765	0.96	T	0.13045	-1.0524	10	0.87932	D	0	.	11.4987	0.50424	0.1445:0.0:0.8555:0.0	.	212	Q07075	AMPE_HUMAN	R	212	ENSP00000265162:G212R	ENSP00000265162:G212R	G	+	1	0	ENPEP	111617653	1.000000	0.71417	0.077000	0.20336	0.918000	0.54935	6.323000	0.72891	1.342000	0.45619	0.655000	0.94253	GGA		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			7	32	0	0	0	1	0	7	32					A	111398204	G	A	111398204	3	1	366	1	0	0	0	0	1	0	0	0	5128	1117	39	1	636	1	ENPEP	4	111398204	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	109554736	111398204	79756072	5	6248											
PLXNC1	10154	broad.mit.edu	37	12	94641772	94641772	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:94641772G>A	ENST00000258526.4	+	13	2731	c.2482G>A	c.(2482-2484)Gta>Ata	p.V828I		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	828					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAAGCTGAGAGTACAAGACAC	0.507																																						uc001tdc.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2482-2484)Gta>Ata		Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.							109	103	105					12																	94641772		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641772G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2482G>A	12.37:g.94641772G>A	ENSP00000258526:p.Val828Ile		Somatic					p.V828I	NM_005761	NP_005752	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			12	2731	+			828					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2482G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441245	0.63067	.	.	ENSG00000136040	ENST00000258526	T	0.08282	3.11	6.16	6.16	0.99307	Cell surface receptor IPT/TIG (2);	0.064498	0.64402	D	0.000009	T	0.21881	0.0527	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.00034	-1.2264	10	0.51188	T	0.08	.	18.0158	0.89239	0.0:0.0:1.0:0.0	.	828	O60486	PLXC1_HUMAN	I	828	ENSP00000258526:V828I	ENSP00000258526:V828I	V	+	1	0	PLXNC1	93165903	1.000000	0.71417	0.147000	0.22382	0.132000	0.20833	5.581000	0.67471	2.937000	0.99478	0.650000	0.86243	GTA		0.507	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			3	38	0	0	0	1	0	3	38					A	94641772	G	A	94641772	3	1	366	1	0	0	0	0	1	0	0	0	12126	1029	36	2	2532	2	PLXNC1	12	94641772	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		94641772	39210123	6	6249											
OAS3	4940	broad.mit.edu	37	12	113403801	113403801	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr12:113403801G>A	ENST00000228928.7	+	12	2835	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	886	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCAGAGTGTGGACTTTGATGT	0.582																																						uc001tug.3																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2656-2658)Gac>Aac		Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.							48	51	50					12																	113403801		2097	4229	6326	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity	g.chr12:113403801G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2656G>A	12.37:g.113403801G>A	ENSP00000228928:p.Asp886Asn		Somatic					p.D886N	NM_006187	NP_006178	WXS	Illumina GAIIx	Phase_I	Q9Y6K5	OAS3_HUMAN			11	2743	+			886			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.2656G>A	CCDS44981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.353763|3.353763	0.61293|0.61293	.|.	.|.	ENSG00000111331|ENSG00000111331	ENST00000228928;ENST00000323881|ENST00000546973	T|.	0.09255|.	3.0|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.35677|.	U|.	0.003043|.	T|.	0.59266|.	0.2181|.	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	P|.	0.43750|.	0.816|.	B|.	0.39805|.	0.31|.	T|.	0.55263|.	-0.8168|.	10|.	0.51188|.	T|.	0.08|.	.|.	14.5781|14.5781	0.68265|0.68265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	886|.	Q9Y6K5|.	OAS3_HUMAN|.	N|X	886;885|57	ENSP00000228928:D886N|.	ENSP00000228928:D886N|.	D|W	+|+	1|3	0|0	OAS3|OAS3	111888184|111888184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.856000|3.856000	0.55964|0.55964	2.494000|2.494000	0.84150|0.84150	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			15	18	0	0	0	1	0	15	18					A	113403801	G	A	113403801	3	1	366	1	0	0	0	0	1	0	0	0	10801	1174	41	2	2702	2	OAS3	12	113403801	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	18762029	113403801	20448094	7	6250											
C14orf145	145508	broad.mit.edu	37	14	81371163	81371163	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr14:81371163C>A	ENST00000555265.1	-	6	849	c.474G>T	c.(472-474)atG>atT	p.M158I	CEP128_ENST00000281129.3_Missense_Mutation_p.M158I|CEP128_ENST00000216517.6_Missense_Mutation_p.M158I|CEP128_ENST00000327841.2_Missense_Mutation_p.M98I			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	158						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTACCTGAGTCATATCATCAG	0.378																																						uc001xux.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(472-474)atG>atT		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							155	139	144					14																	81371163		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81371163C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.474G>T	14.37:g.81371163C>A	ENSP00000451162:p.Met158Ile		Somatic				CEP128_uc001xuz.2_Missense_Mutation_p.M158I|CEP128_uc001xva.1_Missense_Mutation_p.M158I|CEP128_uc001xuy.1_Missense_Mutation_p.M16I	p.M158I	NM_152446	NP_689659	WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			4	645	-			158					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.474G>T	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.992|1.992	-0.431440|-0.431440	0.04669|0.04669	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529|ENST00000554827	T;T;T;T|.	0.44482|.	1.52;1.52;0.92;0.94|.	5.82|5.82	3.9|3.9	0.45041|0.45041	.|.	0.903130|.	0.09675|.	N|.	0.770642|.	T|.	0.20007|.	0.0481|.	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.003;0.002;0.002|.	B;B;B|.	0.11329|.	0.006;0.006;0.002|.	T|.	0.15093|.	-1.0449|.	10|.	0.37606|.	T|.	0.19|.	.|.	4.7905|4.7905	0.13247|0.13247	0.1729:0.6549:0.0:0.1721|0.1729:0.6549:0.0:0.1721	.|.	158;39;158|.	Q6ZU80-3;Q8N3Z7;Q6ZU80|.	.;.;CE128_HUMAN|.	I|L	158;158;158;158;98;158|37	ENSP00000281129:M158I;ENSP00000451162:M158I;ENSP00000216517:M158I;ENSP00000451137:M158I|.	ENSP00000216517:M158I|.	M|X	-|-	3|2	0|2	CEP128|CEP128	80440916|80440916	0.000000|0.000000	0.05858|0.05858	0.909000|0.909000	0.35828|0.35828	0.009000|0.009000	0.06853|0.06853	0.448000|0.448000	0.21726|0.21726	1.469000|1.469000	0.48083|0.48083	0.585000|0.585000	0.79938|0.79938	ATG|TGA		0.378	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		3	50	0	0	0	1	0	3	50					A	81371163	C	A	81371163	3	1	366	1	0	0	0	0	1	0	0	0	1749	826	29	4	2890	4	C14orf145	14	81371163	Missense_Mutation	SNP	C	TCGA-FY-A3NP-01A-11D-A21A-08		81371163	25978377	8	6251											
RANBP10	57610	broad.mit.edu	37	16	67762359	67762359	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr16:67762359T>A	ENST00000317506.3	-	11	1523	c.1408A>T	c.(1408-1410)Atg>Ttg	p.M470L	RANBP10_ENST00000448631.2_Missense_Mutation_p.M444L|RANBP10_ENST00000602677.1_Missense_Mutation_p.M500L|RANBP10_ENST00000536251.1_Missense_Mutation_p.M241L|RANBP10_ENST00000411657.2_Missense_Mutation_p.M383L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	470					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGTGTGGACATGCTTCCTAGC	0.582																																						uc002eud.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1408-1410)Atg>Ttg		Homo sapiens RAN binding protein 10 (RANBP10), mRNA.							205	136	160					16																	67762359		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67762359T>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1408A>T	16.37:g.67762359T>A	ENSP00000316589:p.Met470Leu		Somatic				RANBP10_uc010ceo.3_Missense_Mutation_p.M241L|RANBP10_uc010vju.2_Missense_Mutation_p.M444L|RANBP10_uc010vjv.2_Missense_Mutation_p.M383L|RANBP10_uc010vjw.1_Missense_Mutation_p.M161L	p.M470L	NM_020850	NP_065901	WXS	Illumina GAIIx	Phase_I	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1524	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	470					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1408A>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013450	0.54468	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.87	-1.19	0.09585	.	0.372776	0.31279	N	0.007923	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.02070	-1.1219	9	0.27082	T	0.32	-4.8927	4.7241	0.12933	0.2392:0.3967:0.0:0.364	.	383;444;470	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	L	470;444;241;383	.	ENSP00000316589:M470L	M	-	1	0	RANBP10	66319860	1.000000	0.71417	0.978000	0.43139	0.949000	0.60115	2.808000	0.47963	-0.011000	0.14247	0.533000	0.62120	ATG		0.582	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		18	40	0	0	0	1	0	18	40					A	67762359	T	A	67762359	3	1	366	1	0	0	0	0	1	0	0	0	13026	1464	51	5	470	5	RANBP10	16	67762359	Missense_Mutation	SNP	T	TCGA-FY-A3NP-01A-11D-A21A-08		67762359	22592394	9	6252											
PCSK4	92840	broad.mit.edu	37	19	1490315	1490315	+	5'Flank	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:1490315G>A	ENST00000233596.3	+	0	0				PCSK4_ENST00000587784.1_Intron|PCSK4_ENST00000300954.5_Missense_Mutation_p.R11C	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AAGACCAGGCGCAGCCACAGC	0.751																																						uc002ltb.1																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(31-33)Cgc>Tgc		Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.							3	4	4					19																	1490315		1925	3864	5789	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1490315G>A	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072		19.37:g.1490315G>A	Exception_encountered		Somatic				PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.2_5'Flank|REEP6_uc002ltc.3_5'Flank	p.R11C	NM_017573	NP_060043	WXS	Illumina GAIIx	Phase_I	Q6UW60	PCSK4_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)	0	93	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	11					B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.31C>T	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	G	4.944	0.175321	0.09391	.	.	ENSG00000115257	ENST00000300954	T	0.70045	-0.45	3.24	-2.0	0.07433	.	1.575150	0.04284	N	0.344455	T	0.49115	0.1538	L	0.53249	1.67	0.09310	N	1	P	0.49559	0.925	B	0.32211	0.142	T	0.49934	-0.8886	10	0.39692	T	0.17	.	0.945	0.01363	0.2332:0.1605:0.3988:0.2075	.	11	Q6UW60	PCSK4_HUMAN	C	11	ENSP00000300954:R11C	ENSP00000300954:R11C	R	-	1	0	PCSK4	1441315	0.017000	0.18338	0.027000	0.17364	0.062000	0.15995	-0.232000	0.09055	-0.173000	0.10761	0.313000	0.20887	CGC		0.751	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		2	1	0	0	0	1	0	2	1					A	1490315	G	A	1490315	1	1	366	0	1	0	0	0	0	0	0	0	11602	1087	38	1		1	PCSK4	19	1490315	5'Flank	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		1490315	57638668	10	6253											
LPHN1	22859	broad.mit.edu	37	19	14267930	14267930	+	Silent	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:14267930G>A	ENST00000340736.6	-	16	3085	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.L925L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	930					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATAGTGCAGCAGGCCGGCG	0.642																																						uc010xnn.2																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2788-2790)Ctg>Ttg		Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.							48	49	48					19																	14267930		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267930G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2788C>T	19.37:g.14267930G>A			Somatic				LPHN1_uc010xno.2_Silent_p.L925L|LOC100507373_uc002myf.3_Intron	p.L930L	NM_001008701	NP_001008701	WXS	Illumina GAIIx	Phase_I	O94910	LPHN1_HUMAN			15	3084	-			930					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.2788C>T	CCDS32928.1																																																																																				0.642	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		3	30	0	0	0	1	0	3	30					A	14267930	G	A	14267930	2	1	366	1	0	0	0	0	0	0	0	1	8915	962	34	2		2	LPHN1	19	14267930	Silent	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08	12777615	14267930	44861053	11	6254											
ZNF225	7768	broad.mit.edu	37	19	44635831	44635831	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr19:44635831A>G	ENST00000262894.6	+	5	1344	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	ZNF225_ENST00000590612.1_Missense_Mutation_p.Y355C|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	355					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGCTTCATTTATAGGCAAGAT	0.423																																						uc002oyj.1																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1063-1065)tAt>tGt		Homo sapiens zinc finger protein 225 (ZNF225), mRNA.							110	118	115					19																	44635831		2188	4290	6478	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635831A>G	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"Zinc fingers, C2H2-type", "-"	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1064A>G	19.37:g.44635831A>G	ENSP00000262894:p.Tyr355Cys		Somatic				ZNF225_uc010ejf.1_Missense_Mutation_p.Y355C	p.Y355C	NM_013362	NP_037494	WXS	Illumina GAIIx	Phase_I	Q9UK10	ZN225_HUMAN			4	1307	+		Prostate(69;0.0352)|all_neural(266;0.202)	355					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1064A>G	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	7.319	0.616553	0.14129	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.08546	3.08	2.63	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.41645	-0.9497	9	0.34782	T	0.22	.	0.7401	0.00972	0.3123:0.309:0.2158:0.1629	.	355	Q9UK10	ZN225_HUMAN	C	355;319	ENSP00000262894:Y355C	ENSP00000262894:Y355C	Y	+	2	0	ZNF225	49327671	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-9.440000	0.00011	-1.128000	0.02922	-0.464000	0.05259	TAT		0.423	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			17	29	0	0	0	1	0	17	29					G	44635831	A	G	44635831	3	3	366	1	0	0	0	0	1	0	0	0	17776	449	16	3	1078	3	ZNF225	19	44635831	Missense_Mutation	SNP	A	TCGA-FY-A3NP-01A-11D-A21A-08	30367901	44635831	14493152	12	6255											
CLTCL1	8218	broad.mit.edu	37	22	19183842	19183842	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NP-01A-11D-A21A-08	TCGA-FY-A3NP-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d117c65a-9493-4628-9eb0-1450fed1fb4f	7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a	g.chr22:19183842G>A	ENST00000263200.10	-	26	4198	c.4126C>T	c.(4126-4128)Ctc>Ttc	p.L1376F	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.L1376F|CLTCL1_ENST00000427926.1_Missense_Mutation_p.L1376F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1376	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCATGGTGAGCACAGCATTG	0.567			T	?	ALCL																																	uc021wle.1				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(4126-4128)Ctc>Ttc		Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.							95	97	96					22																	19183842		2142	4251	6393	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19183842G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4126C>T	22.37:g.19183842G>A	ENSP00000445677:p.Leu1376Phe		Somatic				CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.L1376F|CLTCL1_uc011agw.1_Missense_Mutation_p.L1355F|CLTCL1_uc011agt.2_Missense_Mutation_p.L167F|CLTCL1_uc011agu.2_Missense_Mutation_p.L167F|CLTCL1_uc010grm.1_Missense_Mutation_p.L136F|CLTCL1_uc002zpd.1_Missense_Mutation_p.L283F|CLTCL1_uc002zpe.2_3'UTR	p.L1376F	NM_007098	NP_009029	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			25	4201	-	Colorectal(54;0.0993)		1376			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4126C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170579	0.21621	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.20200	2.09;2.09;2.09	3.57	-3.55	0.04639	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.346876	0.25219	N	0.032256	T	0.32763	0.0840	M	0.89353	3.025	0.29067	N	0.883553	P;P;P;P	0.49447	0.682;0.915;0.924;0.728	P;P;P;P	0.55161	0.459;0.77;0.694;0.493	T	0.22695	-1.0209	10	0.62326	D	0.03	-6.0824	1.5211	0.02516	0.1931:0.1099:0.2085:0.4885	.	1376;199;199;1376	P53675-2;B7Z1Z7;B7Z2Y4;P53675	.;.;.;CLH2_HUMAN	F	1376	ENSP00000439662:L1376F;ENSP00000445677:L1376F;ENSP00000441158:L1376F	ENSP00000445677:L1376F	L	-	1	0	CLTCL1	17563842	1.000000	0.71417	0.024000	0.17045	0.036000	0.12997	1.458000	0.35223	-0.104000	0.12154	-0.332000	0.08345	CTC		0.567	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	46	0	0	0	1	0	3	46					A	19183842	G	A	19183842	3	1	366	1	0	0	0	0	1	0	0	0	3567	971	34	2	824	2	CLTCL1	22	19183842	Missense_Mutation	SNP	G	TCGA-FY-A3NP-01A-11D-A21A-08		19183842	32120724	13	6256											
LAMC1	3915	broad.mit.edu	37	1	183111704	183111704	+	Missense_Mutation	SNP	G	G	A	rs79826197		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr1:183111704G>A	ENST00000258341.4	+	28	4866	c.4609G>A	c.(4609-4611)Gag>Aag	p.E1537K	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1537	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	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)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TAAGCTAAACGAGATTGAAGG	0.448													G|||	1	0.000199681	0	0	5008	,	,		23235	0.001		0	False		,,,				2504	0					uc001gpy.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(4609-4611)Gag>Aag		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102	83	90					1																	183111704		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183111704G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4609G>A	1.37:g.183111704G>A	ENSP00000258341:p.Glu1537Lys		Somatic					p.E1537K	NM_002293	NP_002284	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			27	4866	+			1537			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4609G>A	CCDS1351.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.36	2.510832	0.44660	.	.	ENSG00000135862	ENST00000258341	T	0.31510	1.49	5.57	5.57	0.84162	.	0.151272	0.64402	D	0.000018	T	0.31482	0.0798	M	0.72118	2.19	0.58432	D	0.999991	P	0.41131	0.739	B	0.30943	0.122	T	0.21042	-1.0257	10	0.17832	T	0.49	.	19.5381	0.95262	0.0:0.0:1.0:0.0	.	1537	P11047	LAMC1_HUMAN	K	1537	ENSP00000258341:E1537K	ENSP00000258341:E1537K	E	+	1	0	LAMC1	181378327	1.000000	0.71417	0.906000	0.35671	0.628000	0.37860	5.596000	0.67570	2.611000	0.88343	0.655000	0.94253	GAG		0.448	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	66	0	0	0	1	0	3	66					A	183111704	G	A	183111704	3	1	367	1	0	0	0	0	1	0	0	0	8614	1059	37	1	4719	1	LAMC1	1	183111704	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		183111704	66138917	1	6257											
HCLS1	3059	broad.mit.edu	37	3	121351231	121351231	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr3:121351231G>C	ENST00000314583.3	-	12	1279	c.1188C>G	c.(1186-1188)gaC>gaG	p.D396E	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.D359E	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	396					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|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 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)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTCCTCATAGTCCCCCTCTG	0.557																																						uc003eeh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1186-1188)gaC>gaG		Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.							239	222	227					3																	121351231		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351231G>C		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1188C>G	3.37:g.121351231G>C	ENSP00000320176:p.Asp396Glu		Somatic				HCLS1_uc011bjj.2_Missense_Mutation_p.D359E|HCLS1_uc011bjk.1_Non-coding_Transcript	p.D396E	NM_005335	NP_005326	WXS	Illumina GAIIx	Phase_I	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	11	1313	-			396					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1188C>G	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258643	0.05791	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.19938	2.12;2.11	5.21	3.39	0.38822	.	0.780599	0.12384	N	0.473618	T	0.15739	0.0379	L	0.40543	1.245	0.42050	D	0.99111	P;P	0.46656	0.882;0.882	B;B	0.43701	0.428;0.428	T	0.09443	-1.0674	10	0.02654	T	1	-25.6477	8.1107	0.30914	0.1865:0.0:0.8135:0.0	.	359;396	E7EVW7;P14317	.;HCLS1_HUMAN	E	396;359	ENSP00000320176:D396E;ENSP00000387645:D359E	ENSP00000320176:D396E	D	-	3	2	HCLS1	122833921	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	1.109000	0.31135	1.441000	0.47550	-0.140000	0.14226	GAC		0.557	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		8	380	0	0	0	1	0	8	380					C	121351231	G	C	121351231	3	2	367	1	0	0	0	0	1	0	0	0	6995	1020	36	4	284	4	HCLS1	3	121351231	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		121351231	76671199	2	6258											
MAP1B	4131	broad.mit.edu	37	5	71490028	71490028	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr5:71490028G>C	ENST00000296755.7	+	5	1144	c.846G>C	c.(844-846)atG>atC	p.M282I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	282					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTTTCAATATGCTCATCAATG	0.502																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(844-846)atG>atC		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							83	87	86					5																	71490028		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490028G>C	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.846G>C	5.37:g.71490028G>C	ENSP00000296755:p.Met282Ile		Somatic				MAP1B_uc010iyw.1_Missense_Mutation_p.M299I|MAP1B_uc010iyx.1_Missense_Mutation_p.M156I|MAP1B_uc010iyy.1_Missense_Mutation_p.M156I	p.M282I	NM_005909	NP_005900	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	1087	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	282					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.846G>C	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214244	0.39102	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.12147	2.71;2.71;2.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.31207	0.915	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.01024	-1.1477	10	0.02654	T	1	-22.0585	20.6525	0.99598	0.0:0.0:1.0:0.0	.	156;282	A2BDK6;P46821	.;MAP1B_HUMAN	I	282;299;156	ENSP00000296755:M282I;ENSP00000423444:M299I;ENSP00000423416:M156I	ENSP00000296755:M282I	M	+	3	0	MAP1B	71525784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.765000	0.74965	2.890000	0.99128	0.585000	0.79938	ATG		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		12	121	0	0	0	1	0	12	121					C	71490028	G	C	71490028	3	2	367	1	0	0	0	0	1	0	0	0	9228	1319	46	4	864	4	MAP1B	5	71490028	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		71490028	109425232	3	6259											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		49	84	0	0	0	1	0	49	84					T	140453136	A	T	140453136	3	4	367	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3ON-01A-11D-A21Z-08		140453136	18685527	4	6260											
SUFU	51684	broad.mit.edu	37	10	104353429	104353429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr10:104353429C>T	ENST00000369902.3	+	5	800	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	SUFU_ENST00000369899.2_Nonsense_Mutation_p.Q212*|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Nonsense_Mutation_p.Q212*|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	212					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q212K(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACTCAGCCCAGCAGTGGAA	0.617			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.2			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		1	Substitution - Missense(1)	p.Q212K(2)	lung(1)	breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(634-636)Cag>Tag		Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.							95	81	85					10																	104353429		2203	4300	6503	SO:0001587	stop_gained	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353429C>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.634C>T	10.37:g.104353429C>T	ENSP00000358918:p.Gln212*		Somatic				SUFU_uc001kvw.2_Nonsense_Mutation_p.Q212*|SUFU_uc001kvx.3_Nonsense_Mutation_p.Q212*	p.Q212*	NM_016169	NP_057253	WXS	Illumina GAIIx	Phase_I	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	4	825	+		Colorectal(252;0.207)	212					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Nonsense_Mutation	SNP	ENST00000369902.3	37	c.634C>T	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	C	38	6.817597	0.97861	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	.	.	.	6.08	6.08	0.98989	.	0.048329	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-20.855	20.2738	0.98482	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000358915:Q212X	Q	+	1	0	SUFU	104343419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	CAG		0.617	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		18	80	0	0	0	1	0	18	80					T	104353429	C	T	104353429	4	4	367	1	0	0	0	0	0	1	0	0	15367	595	21	2	652	2	SUFU	10	104353429	Nonsense_Mutation	SNP	C	TCGA-FY-A3ON-01A-11D-A21Z-08		104353429	31181318	5	6261											
RETN	56729	broad.mit.edu	37	19	7734285	7734285	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3ON-01A-11D-A21Z-08	TCGA-FY-A3ON-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b661b1c-472f-4911-83b6-ebf16248fe8f	f0119845-2a2b-4d0d-9f2e-24264ef9121c	g.chr19:7734285G>A	ENST00000221515.2	+	2	161	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	RETN_ENST00000381324.2_Missense_Mutation_p.E25K	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	25					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						GTGCTCCATGGAAGAAGCCAT	0.587																																						uc002mhg.1																			0				ovary(1)	1						c.(73-75)Gaa>Aaa		Homo sapiens resistin (RETN), transcript variant 2, mRNA.							161	144	150					19																	7734285		2203	4300	6503	SO:0001583	missense	56729						hormone activity	g.chr19:7734285G>A	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.73G>A	19.37:g.7734285G>A	ENSP00000221515:p.Glu25Lys		Somatic				RETN_uc002mhf.1_Missense_Mutation_p.E25K|RETN_uc010dvm.1_Non-coding_Transcript	p.E25K	NM_001193374	NP_065148	WXS	Illumina GAIIx	Phase_I	Q9HD89	RETN_HUMAN			1	110	+			25					D6W649|Q540D9|Q76B53	Missense_Mutation	SNP	ENST00000221515.2	37	c.73G>A	CCDS12182.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763448	0.49574	.	.	ENSG00000104918	ENST00000221515;ENST00000381324	T;T	0.48201	0.86;0.82	4.71	3.65	0.41850	.	0.549658	0.16095	N	0.229871	T	0.38026	0.1025	L	0.42245	1.32	0.09310	N	0.999993	P	0.36354	0.549	B	0.31946	0.138	T	0.28073	-1.0055	10	0.72032	D	0.01	-0.7237	10.7575	0.46245	0.0:0.1932:0.8068:0.0	.	25	Q9HD89	RETN_HUMAN	K	25	ENSP00000221515:E25K;ENSP00000370725:E25K	ENSP00000221515:E25K	E	+	1	0	RETN	7640285	0.956000	0.32656	0.011000	0.14972	0.013000	0.08279	2.702000	0.47102	0.959000	0.37980	0.462000	0.41574	GAA		0.587	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		11	175	0	0	0	1	0	11	175					A	7734285	G	A	7734285	3	1	367	1	0	0	0	0	1	0	0	0	13236	1175	41	2	75	2	RETN	19	7734285	Missense_Mutation	SNP	G	TCGA-FY-A3ON-01A-11D-A21Z-08		7734285	51394698	6	6262											
RNF186	54546	broad.mit.edu	37	1	20141106	20141106	+	Silent	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr1:20141106G>A	ENST00000375121.2	-	1	665	c.489C>T	c.(487-489)gcC>gcT	p.A163A	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	163						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGAGCAAGGCCAGCAGGA	0.607																																						uc001bcr.3																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(487-489)gcC>gcT		Homo sapiens ring finger protein 186 (RNF186), mRNA.							95	108	104					1																	20141106		2203	4300	6503	SO:0001819	synonymous_variant	54546					integral to membrane	zinc ion binding	g.chr1:20141106G>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.489C>T	1.37:g.20141106G>A			Somatic					p.A163A	NM_019062	NP_061935	WXS	Illumina GAIIx	Phase_I	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	666	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	163					Q53GE0	Silent	SNP	ENST00000375121.2	37	c.489C>T	CCDS199.1																																																																																				0.607	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		6	161	0	0	0	1	0	6	161					A	20141106	G	A	20141106	2	1	368	1	0	0	0	0	0	0	0	1	13469	987	35	2		2	RNF186	1	20141106	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		20141106	229109515	1	6263											
GLYCTK	132158	broad.mit.edu	37	3	52326848	52326848	+	Silent	SNP	G	G	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr3:52326848G>C	ENST00000436784.2	+	5	1338	c.1278G>C	c.(1276-1278)ctG>ctC	p.L426L	MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000354773.4_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	426					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ACCAGGAACTGGCCCTGCGTG	0.657																																						uc003ddo.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(1276-1278)ctG>ctC		Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.							75	72	73					3																	52326848		2203	4300	6503	SO:0001819	synonymous_variant	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52326848G>C		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1278G>C	3.37:g.52326848G>C			Somatic				GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.3_Silent_p.L90L	p.L426L	NM_145262	NP_660305	WXS	Illumina GAIIx	Phase_I	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	4	1374	+			426					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Silent	SNP	ENST00000436784.2	37	c.1278G>C	CCDS2852.1																																																																																				0.657	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		30	87	0	0	0	1	0	30	87					C	52326848	G	C	52326848	2	2	368	1	0	0	0	0	0	0	0	1	6482	1335	47	4		4	GLYCTK	3	52326848	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		52326848	145695582	2	6264											
LETM1	3954	broad.mit.edu	37	4	1838262	1838262	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr4:1838262G>A	ENST00000302787.2	-	4	928	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	211	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CACAAGGAACGGCACCAGGCG	0.562																																						uc003gdv.3																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(631-633)cCg>cTg		Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.							147	121	130					4																	1838262		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1838262G>A	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.632C>T	4.37:g.1838262G>A	ENSP00000305653:p.Pro211Leu		Somatic				LETM1_uc010icc.3_5'UTR|LETM1_uc011bvg.2_Missense_Mutation_p.P211L	p.P211L	NM_012318	NP_036450	WXS	Illumina GAIIx	Phase_I	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	929	-			211			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.632C>T	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660898	0.88154	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.57273	0.41	4.01	4.01	0.46588	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83082	-0.0137	10	0.87932	D	0	-30.3223	16.3116	0.82873	0.0:0.0:1.0:0.0	.	211;211	O95202-3;O95202	.;LETM1_HUMAN	L	211;171	ENSP00000305653:P211L	ENSP00000305653:P211L	P	-	2	0	LETM1	1808060	1.000000	0.71417	0.723000	0.30687	0.801000	0.45260	9.506000	0.97992	2.077000	0.62373	0.563000	0.77884	CCG		0.562	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			31	125	0	0	0	1	0	31	125					A	1838262	G	A	1838262	3	1	368	1	0	0	0	0	1	0	0	0	8734	1116	39	1	1631	1	LETM1	4	1838262	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		1838262	189316014	3	6265											
ADAMTS6	11174	broad.mit.edu	37	5	64629869	64629869	+	Splice_Site	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:64629869C>T	ENST00000536360.1	-	8	1930	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaCTTACCCAGTGTTCCA	0.259																																						uc003jtp.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.e8+1		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.							38	42	41					5																	64629869		2196	4295	6491	SO:0001630	splice_region_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629869C>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1117+1G>A	5.37:g.64629869C>T			Somatic				ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site	p.G373_splice	NM_197941	NP_922932	WXS	Illumina GAIIx	Phase_I	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1931	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	373			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Splice_Site	SNP	ENST00000536360.1	37	c.1117_splice		.	.	.	.	.	.	.	.	.	.	C	27.6	4.850515	0.91277	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	D;D;D	0.95272	-3.66;-3.66;-3.66	5.16	5.16	0.70880	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98962	1.0798	9	.	.	.	.	18.2467	0.89988	0.0:1.0:0.0:0.0	.	373	Q9UKP5	ATS6_HUMAN	S	373	ENSP00000370443:G373S;ENSP00000423551:G373S;ENSP00000440995:G373S	.	G	-	1	0	ADAMTS6	64665625	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.224000	0.78042	2.408000	0.81797	0.561000	0.74099	GGC		0.259	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	Missense_Mutation	17	47	0	0	0	1	0	17	47					T	64629869	C	T	64629869	5	4	368	1	0	0	0	0	0	0	1	0	270	637	22	2	2308	2	ADAMTS6	5	64629869	Splice_Site	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		64629869	116285391	4	6266											
FAT2	2196	broad.mit.edu	37	5	150925516	150925516	+	Silent	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:150925516C>T	ENST00000261800.5	-	9	5184	c.5172G>A	c.(5170-5172)tcG>tcA	p.S1724S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1724	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGTAAGACGAGATTTTCT	0.413																																						uc003lue.4																			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.(5170-5172)tcG>tcA		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.							120	122	121					5																	150925516		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925516C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5172G>A	5.37:g.150925516C>T			Somatic					p.S1724S	NM_001447	NP_001438	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	5185	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1724			Cadherin 15.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.5172G>A	CCDS4317.1																																																																																				0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		28	148	0	0	0	1	0	28	148					T	150925516	C	T	150925516	2	4	368	1	0	0	0	0	0	0	0	1	5690	523	19	1		1	FAT2	5	150925516	Silent	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08	86295647	150925516	29989744	5	6267											
PWWP2A	114825	broad.mit.edu	37	5	159520656	159520656	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr5:159520656T>C	ENST00000307063.7	-	2	1035	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	PWWP2A_ENST00000523662.1_Missense_Mutation_p.K334R|PWWP2A_ENST00000456329.3_Missense_Mutation_p.K334R	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	334										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTAATTTCCTTTTTTTCAGC	0.333																																						uc011ded.2																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1000-1002)aAg>aGg		Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.							122	103	109					5																	159520656		1822	4092	5914	SO:0001583	missense	114825							g.chr5:159520656T>C		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1001A>G	5.37:g.159520656T>C	ENSP00000305151:p.Lys334Arg		Somatic				PWWP2A_uc003lxv.4_Missense_Mutation_p.K334R|PWWP2A_uc011dec.2_Missense_Mutation_p.K334R	p.K334R	NM_001130864	NP_001124336	WXS	Illumina GAIIx	Phase_I	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	1058	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	334					G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	c.1001A>G	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	T	8.748	0.920598	0.17982	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.24723	1.84;1.84;1.84	5.57	4.39	0.52855	.	0.048097	0.85682	D	0.000000	T	0.17408	0.0418	N	0.19112	0.55	0.34025	D	0.653078	P;P;P	0.51933	0.704;0.949;0.949	B;B;B	0.43301	0.236;0.415;0.415	T	0.18808	-1.0325	10	0.33940	T	0.23	-14.8326	11.4822	0.50333	0.0:0.0727:0.0:0.9273	.	334;334;334	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	R	334	ENSP00000390462:K334R;ENSP00000428143:K334R;ENSP00000305151:K334R	ENSP00000305151:K334R	K	-	2	0	PWWP2A	159453234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.823000	0.55715	2.123000	0.65237	0.460000	0.39030	AAG		0.333	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			3	63	0	0	0	1	0	3	63					C	159520656	T	C	159520656	3	2	368	1	0	0	0	0	1	0	0	0	12845	1609	56	3	1412	3	PWWP2A	5	159520656	Missense_Mutation	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08	8595140	159520656	21394604	6	6268											
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						uc003qii.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.							196	180	186					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	SH3 domain binding|calcium ion binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg		Somatic				REPS1_uc003qig.4_Missense_Mutation_p.K141R|REPS1_uc011edr.2_Missense_Mutation_p.K141R|REPS1_uc003qij.3_Missense_Mutation_p.K141R|REPS1_uc003qik.3_5'UTR	p.K141R	NM_031922	NP_114128	WXS	Illumina GAIIx	Phase_I	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	2	1001	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			5	351	0	0	0	1	0	5	351					C	139266690	T	C	139266690	3	2	368	1	0	0	0	0	1	0	0	0	13228	1609	56	3	2040	3	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08		139266690	31848377	7	6269											
EIF4H	7458	broad.mit.edu	37	7	73609165	73609165	+	Silent	SNP	T	T	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:73609165T>C	ENST00000265753.8	+	6	703	c.564T>C	c.(562-564)ccT>ccC	p.P188P	EIF4H_ENST00000353999.6_Silent_p.P168P	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	188					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GAGATGGCCCTCCCCTCCGTG	0.617																																						uc003uad.1																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(562-564)ccT>ccC		Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.							42	47	46					7																	73609165		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609165T>C		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.564T>C	7.37:g.73609165T>C			Somatic				EIF4H_uc003uae.1_Silent_p.P168P	p.P188P	NM_022170	NP_071496	WXS	Illumina GAIIx	Phase_I	Q15056	IF4H_HUMAN			5	572	+			188					A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.564T>C	CCDS5564.1																																																																																				0.617	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		3	76	0	0	0	1	0	3	76					C	73609165	T	C	73609165	2	2	368	1	0	0	0	0	0	0	0	1	5039	1538	54	3		3	EIF4H	7	73609165	Silent	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08		73609165	85529498	8	6270											
CFTR	1080	broad.mit.edu	37	7	117175426	117175426	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr7:117175426T>C	ENST00000003084.6	+	6	836	c.704T>C	c.(703-705)cTt>cCt	p.L235P	CFTR_ENST00000454343.1_Missense_Mutation_p.L235P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	235	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GTCCTTGCCCTTTTTCAGGCT	0.438									Cystic Fibrosis																													uc003vjd.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(703-705)cTt>cCt		Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	Bumetanide(DB00887)|Glibenclamide(DB01016)						128	119	122					7																	117175426		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	g.chr7:117175426T>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.704T>C	7.37:g.117175426T>C	ENSP00000003084:p.Leu235Pro		Somatic				CFTR_uc011knq.2_5'UTR	p.L235P	NM_000492	NP_000483	WXS	Illumina GAIIx	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		5	836	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		235			ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.704T>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849389	0.32699	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91351	-2.83;-2.83;-2.83	5.37	4.2	0.49525	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.563956	0.20074	N	0.099787	T	0.77025	0.4070	N	0.01438	-0.865	0.22982	N	0.998476	B	0.16166	0.016	B	0.25884	0.064	T	0.66180	-0.5988	10	0.34782	T	0.22	-0.328	12.4979	0.55940	0.0:0.0:0.1397:0.8603	.	235	P13569	CFTR_HUMAN	P	235;235;205	ENSP00000003084:L235P;ENSP00000403677:L235P;ENSP00000389119:L205P	ENSP00000003084:L235P	L	+	2	0	CFTR	116962662	0.900000	0.30661	0.016000	0.15963	0.989000	0.77384	4.475000	0.60210	0.864000	0.35578	0.528000	0.53228	CTT		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		3	117	0	0	0	1	0	3	117					C	117175426	T	C	117175426	3	2	368	1	0	0	0	0	1	0	0	0	3294	1609	56	3	726	3	CFTR	7	117175426	Missense_Mutation	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08	43566261	117175426	41963237	9	6271											
USP20	10868	broad.mit.edu	37	9	132631703	132631703	+	Splice_Site	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr9:132631703G>A	ENST00000315480.4	+	13	1549	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	USP20_ENST00000372429.3_Splice_Site_p.R464Q|USP20_ENST00000358355.1_Splice_Site_p.R464Q			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	464	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCTGTGACCGGGTGGGTGCC	0.667																																						uc004bys.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.e13+1		Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.							46	52	50					9																	132631703		2057	4202	6259	SO:0001630	splice_region_variant	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132631703G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1392+1G>A	9.37:g.132631703G>A			Somatic				USP20_uc004byr.2_Splice_Site_p.R464_splice|USP20_uc004byt.1_Splice_Site_p.R464_splice	p.R464_splice	NM_001110303	NP_006667	WXS	Illumina GAIIx	Phase_I	Q9Y2K6	UBP20_HUMAN			13	1603	+		Ovarian(14;0.00556)	464					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Splice_Site	SNP	ENST00000315480.4	37	c.1392_splice	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637014	0.96693	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.30714	1.52;1.52;1.52	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.213702	0.46442	D	0.000296	T	0.49253	0.1546	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.48387	-0.9040	10	0.72032	D	0.01	.	18.0352	0.89298	0.0:0.0:1.0:0.0	.	464	Q9Y2K6	UBP20_HUMAN	Q	464	ENSP00000361506:R464Q;ENSP00000313811:R464Q;ENSP00000351122:R464Q	ENSP00000313811:R464Q	R	+	2	0	USP20	131671524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.405000	0.97313	2.497000	0.84241	0.655000	0.94253	CGG		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		Missense_Mutation	3	94	0	0	0	1	0	3	94					A	132631703	G	A	132631703	5	1	368	1	0	0	0	0	0	0	1	0	17049	1130	39	1	1433	1	USP20	9	132631703	Splice_Site	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		132631703	8581728	10	6272											
C11orf87	399947	broad.mit.edu	37	11	109294541	109294541	+	Missense_Mutation	SNP	C	C	T	rs187108020	byFrequency	TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr11:109294541C>T	ENST00000327419.6	+	2	585	c.182C>T	c.(181-183)aCg>aTg	p.T61M	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	61						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						TTCTCCTCCACGCTGGTGCTG	0.612													C|||	2	0.000399361	0	0	5008	,	,		19410	0.001		0.001	False		,,,				2504	0					uc010rwb.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(181-183)aCg>aTg		Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.							165	134	145					11																	109294541		2201	4298	6499	SO:0001583	missense	399947					integral to membrane		g.chr11:109294541C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.182C>T	11.37:g.109294541C>T	ENSP00000331581:p.Thr61Met		Somatic				C11orf87_uc021qqf.1_Missense_Mutation_p.T61M	p.T61M	NM_207645	NP_997528	WXS	Illumina GAIIx	Phase_I	Q6NUJ2	CK087_HUMAN			1	585	+			61					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.182C>T	CCDS31672.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	19.69	3.875003	0.72180	.	.	ENSG00000185742	ENST00000327419	.	.	.	5.13	5.13	0.70059	.	0.000000	0.53938	U	0.000045	T	0.66655	0.2811	L	0.29908	0.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.70223	-0.4931	9	0.87932	D	0	.	16.4561	0.84015	0.0:1.0:0.0:0.0	.	61	Q6NUJ2	CK087_HUMAN	M	61	.	ENSP00000331581:T61M	T	+	2	0	C11orf87	108799751	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.868000	0.75516	2.556000	0.86216	0.655000	0.94253	ACG		0.612	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		13	66	0	0	0	1	0	13	66					T	109294541	C	T	109294541	3	4	368	1	0	0	0	0	1	0	0	0	1669	536	19	1	184	1	C11orf87	11	109294541	Missense_Mutation	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		109294541	25711975	11	6273											
A2ML1	144568	broad.mit.edu	37	12	8988135	8988135	+	Silent	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:8988135G>A	ENST00000299698.7	+	6	696	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACAGTGGCTGGAAGTGGTAC	0.532																																						uc001quz.4																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(514-516)ctG>ctA		Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.							111	116	115					12																	8988135		2059	4210	6269	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8988135G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.516G>A	12.37:g.8988135G>A			Somatic					p.L172L	NM_144670	NP_653271	WXS	Illumina GAIIx	Phase_I	B3KVV6	B3KVV6_HUMAN			5	614	+			16						Silent	SNP	ENST00000299698.7	37	c.516G>A	CCDS8596.2																																																																																				0.532	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		4	166	0	0	0	1	0	4	166					A	8988135	G	A	8988135	2	1	368	1	0	0	0	0	0	0	0	1	5	1335	47	2		2	A2ML1	12	8988135	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		8988135	124863760	12	6274											
SIRT4	23409	broad.mit.edu	37	12	120741654	120741654	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr12:120741654G>A	ENST00000202967.4	+	2	349	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATTTTGTCCGGAGTGCCCCA	0.582																																						uc001tyc.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(289-291)cGg>cAg		Homo sapiens sirtuin 4 (SIRT4), mRNA.							51	46	47					12																	120741654		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding	g.chr12:120741654G>A	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.290G>A	12.37:g.120741654G>A	ENSP00000202967:p.Arg97Gln		Somatic					p.R97Q	NM_012240	NP_036372	WXS	Illumina GAIIx	Phase_I	Q9Y6E7	SIRT4_HUMAN			1	349	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		97			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.290G>A	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629543	0.28978	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.17054	2.3;2.3	5.39	1.17	0.20885	.	0.274240	0.43110	N	0.000608	T	0.16896	0.0406	L	0.56396	1.775	0.47183	D	0.999343	B	0.25667	0.131	B	0.28232	0.087	T	0.04481	-1.0948	10	0.42905	T	0.14	-7.8856	9.181	0.37141	0.3711:0.0:0.6289:0.0	.	97	Q9Y6E7	SIRT4_HUMAN	Q	38;97	ENSP00000444838:R38Q;ENSP00000202967:R97Q	ENSP00000202967:R97Q	R	+	2	0	SIRT4	119226037	0.987000	0.35691	0.001000	0.08648	0.322000	0.28314	1.866000	0.39489	0.007000	0.14760	-0.365000	0.07479	CGG		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		3	44	0	0	0	1	0	3	44					A	120741654	G	A	120741654	3	1	368	1	0	0	0	0	1	0	0	0	14340	1116	39	1	292	1	SIRT4	12	120741654	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	111753519	120741654	13110241	13	6275											
SLC12A4	6560	broad.mit.edu	37	16	67988622	67988622	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr16:67988622G>A	ENST00000316341.3	-	6	739	c.599C>T	c.(598-600)gCt>gTt	p.A200V	SLC12A4_ENST00000572037.1_Missense_Mutation_p.A152V|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A169V|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A200V|SLC12A4_ENST00000422611.2_Missense_Mutation_p.A202V|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A194V|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A200V|SLC12A4_ENST00000572010.1_5'UTR	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	200					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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGGCCCACAGCACCTCCAAA	0.552																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(604-606)gCt>gTt		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						118	102	107					16																	67988622		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67988622G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.599C>T	16.37:g.67988622G>A	ENSP00000318557:p.Ala200Val		Somatic				SLC12A4_uc010ceu.2_Missense_Mutation_p.A194V|SLC12A4_uc010vkh.1_Missense_Mutation_p.A169V|SLC12A4_uc002euz.2_Missense_Mutation_p.A200V|SLC12A4_uc010vki.1_Missense_Mutation_p.A200V|SLC12A4_uc002eva.2_Missense_Mutation_p.A200V|SLC12A4_uc002evb.2_Non-coding_Transcript|SLC12A4_uc010cew.1_Missense_Mutation_p.A83V	p.A202V	NM_001145962	NP_001139434	WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	4	645	-		Ovarian(137;0.192)	200					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.605C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737123	0.96865	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04	5.39	5.39	0.77823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.985;0.999;0.998;0.999;0.996;0.991;0.995	D	0.98860	1.0762	10	0.87932	D	0	.	19.5078	0.95127	0.0:0.0:1.0:0.0	.	202;200;169;152;194;200;200	F5H3C0;B4DF30;F5H066;B4DF69;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;.;S12A4_HUMAN	V	202;169;194;200;200	ENSP00000395983:A202V;ENSP00000438334:A169V;ENSP00000445962:A194V;ENSP00000343374:A200V;ENSP00000318557:A200V	ENSP00000318557:A200V	A	-	2	0	SLC12A4	66546123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.676000	0.91093	0.655000	0.94253	GCT		0.552	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		3	100	0	0	0	1	0	3	100					A	67988622	G	A	67988622	3	1	368	1	0	0	0	0	1	0	0	0	14385	971	34	2	2734	2	SLC12A4	16	67988622	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		67988622	22366131	14	6276											
KIAA1609	57707	broad.mit.edu	37	16	84520509	84520509	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr16:84520509G>A	ENST00000343629.6	-	5	868	c.686C>T	c.(685-687)aCc>aTc	p.T229I	TLDC1_ENST00000535580.1_Missense_Mutation_p.T202I|TLDC1_ENST00000561807.1_5'Flank	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	229						lysosomal membrane (GO:0005765)											AGGGACCAGGGTAGTCAGATC	0.562																																						uc002fib.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						c.(685-687)aCc>aTc		Homo sapiens KIAA1609 (KIAA1609), mRNA.							51	47	49					16																	84520509		2200	4300	6500	SO:0001583	missense	57707						protein binding	g.chr16:84520509G>A	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"TLD domain containing 1"		"KIAA1609"	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.686C>T	16.37:g.84520509G>A	ENSP00000343635:p.Thr229Ile		Somatic				KIAA1609_uc010vod.2_Missense_Mutation_p.T202I	p.T229I	NM_020947	NP_065998	WXS	Illumina GAIIx	Phase_I	Q6P9B6	K1609_HUMAN			4	793	-			229					Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.686C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	3.573	-0.087123	0.07097	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.10573	3.04;2.86	4.98	1.32	0.21799	.	1.125910	0.06602	N	0.754030	T	0.13798	0.0334	M	0.68952	2.095	0.09310	N	1	P;B	0.45078	0.85;0.126	B;B	0.40285	0.325;0.055	T	0.31916	-0.9926	10	0.32370	T	0.25	-14.9371	8.152	0.31145	0.0:0.2401:0.5333:0.2266	.	202;229	F5GWS3;Q6P9B6	.;K1609_HUMAN	I	229;202	ENSP00000343635:T229I;ENSP00000441997:T202I	ENSP00000343635:T229I	T	-	2	0	KIAA1609	83078010	0.095000	0.21747	0.219000	0.23793	0.011000	0.07611	0.404000	0.20999	1.067000	0.40740	0.563000	0.77884	ACC		0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		3	69	0	0	0	1	0	3	69					A	84520509	G	A	84520509	3	1	368	1	0	0	0	0	1	0	0	0	8247	1261	44	2	700	2	KIAA1609	16	84520509	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	16531887	84520509	5834244	15	6277											
EPB41L3	23136	broad.mit.edu	37	18	5395089	5395089	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr18:5395089C>T	ENST00000341928.2	-	21	3470	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	EPB41L3_ENST00000427684.2_Missense_Mutation_p.D341N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D822N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D1044N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.D822N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D875N|EPB41L3_ENST00000542146.1_Missense_Mutation_p.D349N|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1044	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGTCTGCATCCCCCGTGATG	0.443																																						uc002kmt.1																			0		p.G1043W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3130-3132)Gat>Aat		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							154	132	139					18																	5395089		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395089C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3130G>A	18.37:g.5395089C>T	ENSP00000343158:p.Asp1044Asn		Somatic				EPB41L3_uc010wzh.1_Missense_Mutation_p.D875N|EPB41L3_uc002kmu.1_Missense_Mutation_p.D822N|EPB41L3_uc010dkq.1_Missense_Mutation_p.D713N|EPB41L3_uc002kms.1_Missense_Mutation_p.D279N|EPB41L3_uc010wze.1_Missense_Mutation_p.D349N|EPB41L3_uc010wzf.1_Missense_Mutation_p.D341N|EPB41L3_uc010wzg.1_Missense_Mutation_p.D316N|EPB41L3_uc010dkr.2_Missense_Mutation_p.D436N	p.D1044N	NM_012307	NP_036439	WXS	Illumina GAIIx	Phase_I	Q9Y2J2	E41L3_HUMAN			20	3216	-			1044			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3130G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821022	0.96989	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.994;0.995;0.999;1.0;0.999;0.991;1.0;1.0	D	0.94480	0.7692	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	875;341;349;436;713;822;1044;279	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	N	1044;713;875;713;341;349;1044;822	ENSP00000343158:D1044N;ENSP00000441174:D875N;ENSP00000392195:D341N;ENSP00000442233:D349N;ENSP00000341138:D1044N;ENSP00000382981:D822N	ENSP00000343158:D1044N	D	-	1	0	EPB41L3	5385089	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAT		0.443	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		21	100	0	0	0	1	0	21	100					T	5395089	C	T	5395089	3	4	368	1	0	0	0	0	1	0	0	0	5154	855	30	2	141	2	EPB41L3	18	5395089	Missense_Mutation	SNP	C	TCGA-FY-A3R6-01A-11D-A21Z-08		5395089	72682159	16	6278											
KRTAP10-7	386675	broad.mit.edu	37	21	46021268	46021268	+	Silent	SNP	T	T	G			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:46021268T>G	ENST00000380102.2	+	1	772	c.747T>G	c.(745-747)tcT>tcG	p.S249S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	249	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCACCTGCTCTGATGATTCCG	0.642																																						uc002zfn.4																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(730-732)tcT>tcG		Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.							153	152	152					21																	46021268		2203	4300	6503	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021268T>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.747T>G	21.37:g.46021268T>G			Somatic				TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.S244S	NM_198689	NP_941962	WXS	Illumina GAIIx	Phase_I	P60409	KR107_HUMAN			1	757	+			249			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.732T>G																																																																																					0.642	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		52	243	0	0	0	1	0	52	243					G	46021268	T	G	46021268	2	3	368	1	0	0	0	0	0	0	0	1	8514	1567	55	5		5	KRTAP10-7	21	46021268	Silent	SNP	T	TCGA-FY-A3R6-01A-11D-A21Z-08		46021268	2108627	17	6279											
PRMT2	3275	broad.mit.edu	37	21	48069639	48069639	+	Silent	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr21:48069639G>A	ENST00000397637.1	+	6	1596	c.642G>A	c.(640-642)ggG>ggA	p.G214G	PRMT2_ENST00000291705.6_Silent_p.G214G|PRMT2_ENST00000355680.3_Silent_p.G214G|PRMT2_ENST00000451211.2_Silent_p.G214G|PRMT2_ENST00000440086.1_Silent_p.G214G|PRMT2_ENST00000397628.1_Silent_p.G214G|PRMT2_ENST00000458387.2_Silent_p.G214G|PRMT2_ENST00000334494.4_Silent_p.G214G|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000397638.2_Silent_p.G214G			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	214	Interaction with ESR1.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGTGGATGGGGACCTGCCTGC	0.657																																						uc002zjx.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(640-642)ggG>ggA		Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.							86	57	66					21																	48069639		2203	4300	6503	SO:0001819	synonymous_variant	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48069639G>A	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"Protein arginine methyltransferases"	5186	protein-coding gene	gene with protein product		601961	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1", "HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.642G>A	21.37:g.48069639G>A			Somatic				PRMT2_uc021wkc.1_Silent_p.G214G|PRMT2_uc002zjw.3_Silent_p.G214G|PRMT2_uc002zjy.3_Silent_p.G214G|PRMT2_uc010gqm.3_Silent_p.G214G|PRMT2_uc011aga.2_Silent_p.G214G|PRMT2_uc011agb.2_Silent_p.G214G|PRMT2_uc011agc.2_Silent_p.G214G|PRMT2_uc002zjz.1_Silent_p.G100G	p.G214G	NM_206962	NP_996845	WXS	Illumina GAIIx	Phase_I	P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	6	976	+	Breast(49;0.247)	Lung NSC(3;0.245)	214			Interaction with ESR1.		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Silent	SNP	ENST00000397637.1	37	c.642G>A	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	10.82	1.459335	0.26248	.	.	ENSG00000160310	ENST00000455177	T	0.23950	1.88	4.97	-1.28	0.09318	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47686	-0.9098	7	0.87932	D	0	-15.4336	12.9639	0.58473	0.082:0.6963:0.2218:0.0	.	.	.	.	E	154	ENSP00000406127:G154E	ENSP00000406127:G154E	G	+	2	0	PRMT2	46894067	0.931000	0.31567	0.998000	0.56505	0.994000	0.84299	-0.231000	0.09069	-0.034000	0.13713	-0.176000	0.13171	GGA		0.657	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		3	37	0	0	0	1	0	3	37					A	48069639	G	A	48069639	2	1	368	1	0	0	0	0	0	0	0	1	12537	1161	41	2		2	PRMT2	21	48069639	Silent	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08	2048371	48069639	60256	18	6280											
CARD10	29775	broad.mit.edu	37	22	37888680	37888680	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chr22:37888680G>A	ENST00000403299.1	-	18	2822	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	CARD10_ENST00000251973.5_Missense_Mutation_p.S869F|CARD10_ENST00000406271.3_Missense_Mutation_p.S583F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	869					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GTCCAGCCGGGAGCTGGGCAG	0.682																																						uc003asx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(2605-2607)tCc>tTc		Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.							26	25	26					22																	37888680		2201	4296	6497	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888680G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2606C>T	22.37:g.37888680G>A	ENSP00000384570:p.Ser869Phe		Somatic				CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.S187F|CARD10_uc003asw.1_Missense_Mutation_p.S583F|CARD10_uc003asy.1_Missense_Mutation_p.S869F	p.S869F	NM_014550	NP_055365	WXS	Illumina GAIIx	Phase_I	Q9BWT7	CAR10_HUMAN			16	2623	-	Melanoma(58;0.0574)		869					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2606C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003758	0.74932	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.48836	0.8;2.49;0.8	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.64800	0.2631	L	0.59436	1.845	0.35435	D	0.794386	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.984	T	0.73754	-0.3883	10	0.62326	D	0.03	-28.352	15.1863	0.73006	0.0:0.0:1.0:0.0	.	869;583	Q9BWT7;Q8NC81	CAR10_HUMAN;.	F	869;583;869	ENSP00000384570:S869F;ENSP00000385799:S583F;ENSP00000251973:S869F	ENSP00000251973:S869F	S	-	2	0	CARD10	36218626	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.414000	0.59802	2.516000	0.84829	0.655000	0.94253	TCC		0.682	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		6	32	0	0	0	1	0	6	32					A	37888680	G	A	37888680	3	1	368	1	0	0	0	0	1	0	0	0	2644	1174	41	2	508	2	CARD10	22	37888680	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		37888680	13415886	19	6281											
ZCCHC5	203430	broad.mit.edu	37	X	77912899	77912899	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R6-01A-11D-A21Z-08	TCGA-FY-A3R6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5dbf4f84-4b1b-4370-9905-078d55c18835	66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a	g.chrX:77912899G>T	ENST00000321110.1	-	2	1314	c.1019C>A	c.(1018-1020)gCa>gAa	p.A340E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	340							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GAAGTGGGTTGCTACATGACC	0.453																																						uc004edc.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1018-1020)gCa>gAa		Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.							89	73	78					X																	77912899		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912899G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1019C>A	X.37:g.77912899G>T	ENSP00000316794:p.Ala340Glu		Somatic				ZCCHC5_uc022bzi.1_Missense_Mutation_p.A340E	p.A340E	NM_152694	NP_689907	WXS	Illumina GAIIx	Phase_I	Q8N8U3	ZCHC5_HUMAN			1	1315	-			340					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1019C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	1.113	-0.657472	0.03480	.	.	ENSG00000179300	ENST00000321110	T	0.22134	1.97	3.2	-0.938	0.10412	.	3.060580	0.02042	U	0.049366	T	0.16811	0.0404	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.48119	T	0.1	.	6.58	0.22588	0.6116:0.0:0.3884:0.0	.	340	Q8N8U3	ZCHC5_HUMAN	E	340	ENSP00000316794:A340E	ENSP00000316794:A340E	A	-	2	0	ZCCHC5	77799555	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.361000	0.20267	-0.405000	0.07599	-0.322000	0.08575	GCA		0.453	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		8	43	0	0	0	1	0	8	43					T	77912899	G	T	77912899	3	4	368	1	0	0	0	0	1	0	0	0	17588	1319	46	4	412	4	ZCCHC5	23	77912899	Missense_Mutation	SNP	G	TCGA-FY-A3R6-01A-11D-A21Z-08		77912899	77357661	20	6282											
ASH1L	55870	broad.mit.edu	37	1	155491013	155491013	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:155491013G>A	ENST00000368346.3	-	2	937	c.298C>T	c.(298-300)Cca>Tca	p.P100S	ASH1L_ENST00000548830.1_Missense_Mutation_p.P100S|ASH1L_ENST00000392403.3_Missense_Mutation_p.P100S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	100					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTTCTTTGGAGGTTTTTTA	0.373																																						uc009wqq.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(298-300)Cca>Tca		Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.							165	169	168					1																	155491013		2202	4300	6502	SO:0001583	missense	55870				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491013G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.298C>T	1.37:g.155491013G>A	ENSP00000357330:p.Pro100Ser		Somatic				ASH1L_uc001fkt.3_Missense_Mutation_p.P100S|ASH1L_uc009wqr.1_Missense_Mutation_p.P100S	p.P100S	NM_018489	NP_060959	WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		1	778	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		100					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.298C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369528	0.82463	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.98437	-4.93;-4.93	5.89	4.97	0.65823	.	0.168795	0.41605	D	0.000846	D	0.93510	0.7929	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	D	0.91257	0.5034	10	0.87932	D	0	.	14.436	0.67282	0.071:0.0:0.929:0.0	.	100;100	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	100	ENSP00000357330:P100S;ENSP00000376204:P100S	ENSP00000357330:P100S	P	-	1	0	ASH1L	153757637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.926000	0.92839	1.489000	0.48450	0.557000	0.71058	CCA		0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	220	0	0	0	1	0	6	220					A	155491013	G	A	155491013	3	1	369	1	0	0	0	0	1	0	0	0	1041	1174	41	2	8704	2	ASH1L	1	155491013	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		155491013	93759608	1	6283											
C2orf42	54980	broad.mit.edu	37	2	70402827	70402827	+	Silent	SNP	A	A	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:70402827A>C	ENST00000264434.2	-	5	1396	c.1017T>G	c.(1015-1017)gtT>gtG	p.V339V	C2orf42_ENST00000420306.1_Silent_p.V339V	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	339										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACGAGGAAGCAACCACAGGCT	0.438																																						uc002sgh.3																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1015-1017)gtT>gtG		Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.							217	215	216					2																	70402827		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70402827A>C	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1017T>G	2.37:g.70402827A>C			Somatic					p.V339V	NM_017880	NP_060350	WXS	Illumina GAIIx	Phase_I	Q9NWW7	CB042_HUMAN			4	1345	-			339					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.1017T>G	CCDS1899.1																																																																																				0.438	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		7	363	0	0	0	1	0	7	363					C	70402827	A	C	70402827	2	2	369	1	0	0	0	0	0	0	0	1	2166	117	5	5		5	C2orf42	2	70402827	Silent	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		70402827	172796546	2	6284											
THSD7B	80731	broad.mit.edu	37	2	138414527	138414527	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:138414527C>T	ENST00000409968.1	+	23	4445	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1395C|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1426C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1425	TSP type-1 18. {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)		TCTAGAAACACGCCCTTGTAC	0.408																																						uc002tva.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.(4177-4179)Cgc>Tgc		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							128	128	128					2																	138414527		1845	4096	5941	SO:0001583	missense	80731							g.chr2:138414527C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4267C>T	2.37:g.138414527C>T	ENSP00000387145:p.Arg1423Cys		Somatic				THSD7B_uc010zbj.1_Intron	p.R1393C	NM_001080427	NP_001073896	WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	21	4177	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4177C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.237263	0.79800	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.56611	0.45;0.45;0.45	6.17	5.25	0.73442	.	0.106913	0.64402	D	0.000007	T	0.71634	0.3363	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73427	-0.3986	10	0.87932	D	0	.	16.4205	0.83757	0.132:0.868:0.0:0.0	.	1395	C9JKN6	.	C	1423;1426;1395	ENSP00000387145:R1423C;ENSP00000272643:R1426C;ENSP00000413841:R1395C	ENSP00000272643:R1426C	R	+	1	0	THSD7B	138130997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.200000	0.42724	2.941000	0.99782	0.655000	0.94253	CGC		0.408	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		23	215	0	0	0	1	0	23	215					T	138414527	C	T	138414527	3	4	369	1	0	0	0	0	1	0	0	0	15877	536	19	1	4265	1	THSD7B	2	138414527	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	68011700	138414527	104784846	3	6285											
CDC23	8697	broad.mit.edu	37	5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532																																						uc003lcl.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1711-1713)Ttt>Ctt		Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.							204	185	191					5																	137524750		2203	4300	6503	SO:0001583	missense	8697				G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524750A>G	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1711T>C	5.37:g.137524750A>G	ENSP00000378350:p.Phe571Leu		Somatic					p.F571L	NM_004661	NP_004652	WXS	Illumina GAIIx	Phase_I	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		15	1742	-			571					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1711T>C	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595865	0.13875	.	.	ENSG00000094880	ENST00000394886	T	0.40225	1.04	5.29	5.29	0.74685	.	0.117044	0.64402	D	0.000014	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18053	-1.0349	10	0.10111	T	0.7	-20.9996	15.3818	0.74664	1.0:0.0:0.0:0.0	.	571	Q9UJX2	CDC23_HUMAN	L	571	ENSP00000378350:F571L	ENSP00000378350:F571L	F	-	1	0	CDC23	137552649	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.545000	0.60698	2.225000	0.72522	0.379000	0.24179	TTT		0.532	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			3	100	0	0	0	1	0	3	100					G	137524750	A	G	137524750	3	3	369	1	0	0	0	0	1	0	0	0	3061	72	3	3	86	3	CDC23	5	137524750	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		137524750	43390510	4	6286											
GALNT10	55568	broad.mit.edu	37	5	153789197	153789197	+	Missense_Mutation	SNP	G	G	A	rs369435277		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:153789197G>A	ENST00000297107.6	+	9	1398	c.1261G>A	c.(1261-1263)Gca>Aca	p.A421T	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.A359T|GALNT10_ENST00000377657.3_Missense_Mutation_p.A94T|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	421					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggggatgtcgcagtccagaa	0.542																																						uc003lvh.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1261-1263)Gca>Aca		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.		G	THR/ALA	0,4406		0,0,2203	99	106	104		1261	-2.3	0.0	5		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT10	NM_198321.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	421/604	153789197	1,13005	2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789197G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1261G>A	5.37:g.153789197G>A	ENSP00000297107:p.Ala421Thr		Somatic				GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.A262T|FLJ38109_uc003lvi.3_Intron	p.A421T	NM_198321	NP_938080	WXS	Illumina GAIIx	Phase_I	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		8	1393	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	421					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1261G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158273	0.01686	0.0	1.16E-4	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.63744	-0.06;-0.06;1.54	5.08	-2.35	0.06684	.	0.571807	0.20093	N	0.099400	T	0.22936	0.0554	N	0.01081	-1.03	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.26189	-1.0110	10	0.21014	T	0.42	.	5.5526	0.17099	0.2971:0.0:0.489:0.2139	.	359;92;421	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	T	421;359;94	ENSP00000297107:A421T;ENSP00000366889:A359T;ENSP00000366885:A94T	ENSP00000297107:A421T	A	+	1	0	GALNT10	153769390	0.003000	0.15002	0.000000	0.03702	0.163000	0.22366	0.646000	0.24797	-0.385000	0.07833	-0.254000	0.11334	GCA		0.542	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	192	0	0	0	1	0	5	192					A	153789197	G	A	153789197	3	1	369	1	0	0	0	0	1	0	0	0	6208	1087	38	1	1295	1	GALNT10	5	153789197	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08	16264447	153789197	27126063	5	6287											
C6orf221	154288	broad.mit.edu	37	6	74073506	74073506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr6:74073506C>T	ENST00000370367.3	+	3	630	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	193							RNA binding (GO:0003723)										GGGGACCCAGCGATCCCCCGA	0.642																																						uc003pgt.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						c.(577-579)Cga>Tga		Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.							33	35	34					6																	74073506		2203	4300	6503	SO:0001587	stop_gained	154288							g.chr6:74073506C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.577C>T	6.37:g.74073506C>T	ENSP00000359392:p.Arg193*		Somatic					p.R193*	NM_001017361	NP_001017361	WXS	Illumina GAIIx	Phase_I	Q587J8	ECAT1_HUMAN			2	630	+			193					B2RNW7	Nonsense_Mutation	SNP	ENST00000370367.3	37	c.577C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968332	0.34754	.	.	ENSG00000203908	ENST00000370367	.	.	.	2.24	-0.834	0.10779	.	2.469680	0.01938	N	0.041696	.	.	.	.	.	.	0.43536	D	0.995827	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.1331	0.01749	0.2266:0.4045:0.2222:0.1467	.	.	.	.	X	193	.	ENSP00000359392:R193X	R	+	1	2	C6orf221	74130227	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-1.035000	0.03564	-0.217000	0.10033	-0.229000	0.12294	CGA		0.642	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		4	74	0	0	0	1	0	4	74					T	74073506	C	T	74073506	4	4	369	1	0	0	0	0	0	1	0	0	2355	760	27	1	587	1	C6orf221	6	74073506	Nonsense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		74073506	97041561	6	6288											
PTPRZ1	5803	broad.mit.edu	37	7	121652207	121652207	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:121652207A>G	ENST00000393386.2	+	12	3518	c.3107A>G	c.(3106-3108)gAt>gGt	p.D1036G	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1036					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGTTTGGTGATGATAATAAG	0.363																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3106-3108)gAt>gGt		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							88	90	89					7																	121652207		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652207A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3107A>G	7.37:g.121652207A>G	ENSP00000377047:p.Asp1036Gly		Somatic				PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	p.D1036G	NM_002851	NP_002842	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			11	3502	+			1036					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3107A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021190	0.19433	.	.	ENSG00000106278	ENST00000393386	T	0.54071	0.59	5.41	3.03	0.35002	.	0.237120	0.37095	N	0.002257	T	0.45013	0.1321	M	0.67953	2.075	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34700	-0.9818	10	0.44086	T	0.13	.	4.319	0.11007	0.6408:0.0:0.2229:0.1363	.	1036	P23471	PTPRZ_HUMAN	G	1036	ENSP00000377047:D1036G	ENSP00000377047:D1036G	D	+	2	0	PTPRZ1	121439443	1.000000	0.71417	0.867000	0.34043	0.996000	0.88848	3.245000	0.51407	0.361000	0.24292	0.528000	0.53228	GAT		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	120	0	0	0	1	0	4	120					G	121652207	A	G	121652207	3	3	369	1	0	0	0	0	1	0	0	0	12814	333	12	3	3153	3	PTPRZ1	7	121652207	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08		121652207	37486456	7	6289											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	113	0	0	0	1	0	18	113					T	140453136	A	T	140453136	3	4	369	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3R7-01A-11D-A21Z-08	18800929	140453136	18685527	8	6290											
VDAC3	7419	broad.mit.edu	37	8	42259489	42259489	+	Silent	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:42259489C>T	ENST00000022615.4	+	7	575	c.507C>T	c.(505-507)ttC>ttT	p.F169F	VDAC3_ENST00000521158.1_Silent_p.F170F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000392935.3_Silent_p.F170F			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	169					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463																																						uc022aul.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(508-510)ttC>ttT		Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	Dihydroxyaluminium(DB01375)						73	71	71					8																	42259489		2203	4300	6503	SO:0001819	synonymous_variant	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42259489C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.507C>T	8.37:g.42259489C>T			Somatic				VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Silent_p.F169F|VDAC3_uc011lct.2_Silent_p.F169F	p.F170F	NM_001135694	NP_001129166	WXS	Illumina GAIIx	Phase_I	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		5	512	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	169					Q9UIS0	Silent	SNP	ENST00000022615.4	37	c.510C>T	CCDS6131.1																																																																																				0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			4	77	0	0	0	1	0	4	77					T	42259489	C	T	42259489	2	4	369	1	0	0	0	0	0	0	0	1	17145	883	31	1		1	VDAC3	8	42259489	Silent	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		42259489	104104533	9	6291											
NECAB1	64168	broad.mit.edu	37	8	91804128	91804128	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:91804128delA	ENST00000417640.2	+	1	351	c.14delA	c.(13-15)cagfs	p.Q5fs	TMEM64_ENST00000519519.1_5'Flank|NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	5						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAGATTCCCAGGAGACATCG	0.647																																						uc011lgg.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(13-15)cagfs		Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA.							34	39	38					8																	91804128		1884	3846	5730	SO:0001589	frameshift_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91804128delA	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.14delA	8.37:g.91804128delA	ENSP00000387380:p.Gln5fs		Somatic				TMEM64_uc003yeo.2_5'Flank	p.Q5fs	NM_022351	NP_071746	WXS	Illumina GAIIx	Phase_I	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		0	208	+			5					Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Del	DEL	ENST00000417640.2	37	c.14delA	CCDS47889.1																																																																																				0.647	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		2	4						2	4	---	---	---	---	-	91804128	A	-	91804128	7	5	369	1	0	1	0	1	0	0	0	0	10304	188	7	0	16	0	NECAB1	8	91804128	Frame_Shift_Del	DEL	A	TCGA-FY-A3R7-01A-11D-A21Z-08	49544639	91804128	54559894	10	6292											
SLC2A14	144195	broad.mit.edu	37	12	7984255	7984255	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:7984255C>T	ENST00000543909.1	-	9	1045	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V73I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V96I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V111I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V73I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATACCCCCGACGGAAAATATG	0.493											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010sgh.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(331-333)Gtc>Atc		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.							107	99	102					12																	7984255		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984255C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.286G>A	12.37:g.7984255C>T	ENSP00000440480:p.Val96Ile		Somatic	OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_uc001qtk.3_Missense_Mutation_p.V96I|SLC2A14_uc001qtl.3_Missense_Mutation_p.V73I|SLC2A14_uc001qtm.3_Missense_Mutation_p.V73I|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Missense_Mutation_p.V96I|SLC2A14_uc001qto.3_Intron	p.V111I	NM_153449	NP_703150	WXS	Illumina GAIIx	Phase_I	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	2	352	-			96					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.331G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	T	8.369	0.834898	0.16820	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916	T;T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	3.6	1.71	0.24356	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.126644	0.52532	N	0.000067	T	0.63757	0.2538	L	0.49778	1.585	0.58432	D	0.999999	B;B;B	0.21071	0.029;0.009;0.051	B;B;B	0.24701	0.055;0.016;0.05	T	0.48779	-0.9005	10	0.13853	T	0.58	.	9.232	0.37444	0.0:0.78:0.0:0.22	.	111;73;96	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	I	73;96;73;96;111;73;73;73;96;96;73	ENSP00000340450:V73I;ENSP00000440480:V96I;ENSP00000407287:V73I;ENSP00000379834:V96I;ENSP00000445929:V111I;ENSP00000440043:V73I;ENSP00000438312:V73I;ENSP00000443217:V73I;ENSP00000440044:V96I;ENSP00000437653:V96I;ENSP00000442402:V73I	ENSP00000340450:V73I	V	-	1	0	SLC2A14	7875522	0.947000	0.32204	0.339000	0.25562	0.277000	0.26821	2.122000	0.41987	-0.107000	0.12088	-0.889000	0.02933	GTC		0.493	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		7	134	0	0	0	1	0	7	134					T	7984255	C	T	7984255	3	4	369	1	0	0	0	0	1	0	0	0	14543	536	19	1	1308	1	SLC2A14	12	7984255	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		7984255	125867640	11	6293											
OAS2	4939	broad.mit.edu	37	12	113447028	113447028	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:113447028C>A	ENST00000342315.4	+	10	2246	c.2032C>A	c.(2032-2034)Cca>Aca	p.P678T	OAS2_ENST00000392583.2_Missense_Mutation_p.P678T|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	678	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAACCCAATACCACCTTGGAA	0.493																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2032-2034)Cca>Aca		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.							212	208	209					12																	113447028		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	g.chr12:113447028C>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2032C>A	12.37:g.113447028C>A	ENSP00000342278:p.Pro678Thr		Somatic				OAS2_uc001tui.1_Missense_Mutation_p.P678T	p.P678T	NM_016817	NP_058197	WXS	Illumina GAIIx	Phase_I	P29728	OAS2_HUMAN			9	2172	+			678			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2032C>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	1.140	-0.649730	0.03506	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.43294	0.95;0.95	4.39	-0.329	0.12686	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	2.511830	0.01957	N	0.043065	T	0.29850	0.0746	L	0.34521	1.04	0.09310	N	1	B;B	0.14805	0.011;0.008	B;B	0.15870	0.014;0.009	T	0.05599	-1.0875	10	0.20046	T	0.44	-23.8121	3.4208	0.07393	0.3039:0.4748:0.127:0.0942	.	678;678	P29728;P29728-2	OAS2_HUMAN;.	T	678	ENSP00000342278:P678T;ENSP00000376362:P678T	ENSP00000342278:P678T	P	+	1	0	OAS2	111931411	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.389000	0.07342	-0.130000	0.11599	-0.797000	0.03246	CCA		0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			10	356	0	0	0	1	0	10	356					A	113447028	C	A	113447028	3	1	369	1	0	0	0	0	1	0	0	0	10800	507	18	4	2141	4	OAS2	12	113447028	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	105462773	113447028	20404867	12	6294											
DHX37	57647	broad.mit.edu	37	12	125459964	125459964	+	Splice_Site	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:125459964C>T	ENST00000308736.2	-	6	1079		c.e6+1		DHX37_ENST00000544745.1_Splice_Site	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGAGCCCTCACCGCTGGGACA	0.652																																						uc001ugy.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.e6+1		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.							86	67	74					12																	125459964		2203	4300	6503	SO:0001630	splice_region_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125459964C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.980+1G>A	12.37:g.125459964C>T			Somatic					p.R327_splice	NM_032656	NP_116045	WXS	Illumina GAIIx	Phase_I	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	6	1079	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		327			Helicase ATP-binding.		Q9BUI7|Q9P211	Splice_Site	SNP	ENST00000308736.2	37	c.980_splice	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350648	0.82132	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1377	0.81497	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX37	124025917	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	6.225000	0.72271	2.333000	0.79357	0.579000	0.79373	.		0.652	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	Intron	7	118	0	0	0	1	0	7	118					T	125459964	C	T	125459964	5	4	369	1	0	0	0	0	0	0	1	0	4510	521	18	2	2580	2	DHX37	12	125459964	Splice_Site	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	12012936	125459964	8391931	13	6295											
MDGA2	161357	broad.mit.edu	37	14	47426730	47426730	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr14:47426730G>C	ENST00000399232.2	-	9	2093	c.1729C>G	c.(1729-1731)Cgc>Ggc	p.R577G	MDGA2_ENST00000357362.3_Missense_Mutation_p.R348G|MDGA2_ENST00000426342.1_Missense_Mutation_p.R348G|MDGA2_ENST00000439988.3_Missense_Mutation_p.R646G|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	577	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCCAAGCGCCACTCATAG	0.453																																						uc001wwj.4																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1936-1938)Cgc>Ggc		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							94	95	95					14																	47426730		1976	4158	6134	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426730G>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1729C>G	14.37:g.47426730G>C	ENSP00000382178:p.Arg577Gly		Somatic				MDGA2_uc001wwi.4_Missense_Mutation_p.R348G|MDGA2_uc010ani.3_Missense_Mutation_p.R137G|SNORA25_uc021rsl.1_5'Flank	p.R646G	NM_001113498	NP_878250	WXS	Illumina GAIIx	Phase_I	Q7Z553	MDGA2_HUMAN			8	2094	-			577					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1936C>G		.	.	.	.	.	.	.	.	.	.	G	17.09	3.301563	0.60195	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.54	4.62	0.57501	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000105	T	0.22513	0.0543	L	0.40543	1.245	0.80722	D	1	P;P	0.38300	0.626;0.54	P;P	0.50659	0.515;0.647	T	0.00807	-1.1558	10	0.54805	T	0.06	.	14.5333	0.67942	0.0:0.0:0.8532:0.1468	.	348;577	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	577;348;646;348	ENSP00000400011:R577G;ENSP00000405456:R348G;ENSP00000382178:R646G;ENSP00000349925:R348G	ENSP00000349925:R348G	R	-	1	0	MDGA2	46496480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.186000	0.50942	2.606000	0.88127	0.650000	0.86243	CGC		0.453	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	125	0	0	0	1	0	5	125					C	47426730	G	C	47426730	3	2	369	1	0	0	0	0	1	0	0	0	9407	1087	38	4	1177	4	MDGA2	14	47426730	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		47426730	59922810	14	6296											
KIAA0513	9764	broad.mit.edu	37	16	85100875	85100875	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:85100875G>C	ENST00000566428.1	+	2	829	c.198G>C	c.(196-198)tgG>tgC	p.W66C	KIAA0513_ENST00000538274.1_Missense_Mutation_p.W66C|KIAA0513_ENST00000258180.3_Missense_Mutation_p.W66C|KIAA0513_ENST00000567328.1_Missense_Mutation_p.W66C			O60268	K0513_HUMAN	KIAA0513	66						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617																																						uc002fiu.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(196-198)tgG>tgC		Homo sapiens KIAA0513 (KIAA0513), mRNA.							66	51	56					16																	85100875		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100875G>C	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.198G>C	16.37:g.85100875G>C	ENSP00000457408:p.Trp66Cys		Somatic				KIAA0513_uc010voj.2_Missense_Mutation_p.W66C|KIAA0513_uc002fit.3_Missense_Mutation_p.W66C	p.W66C	NM_014732	NP_055547	WXS	Illumina GAIIx	Phase_I	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	1	418	+			66					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.198G>C	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237546	0.58886	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35789	1.29;1.29	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65500	-0.6153	10	0.87932	D	0	-18.6828	16.2567	0.82522	0.0:0.0:1.0:0.0	.	66;66	B4DSS5;O60268	.;K0513_HUMAN	C	66	ENSP00000446439:W66C;ENSP00000258180:W66C	ENSP00000258180:W66C	W	+	3	0	KIAA0513	83658376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.597000	0.67577	2.234000	0.73211	0.561000	0.74099	TGG		0.617	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		5	69	0	0	0	1	0	5	69					C	85100875	G	C	85100875	3	2	369	1	0	0	0	0	1	0	0	0	8181	1241	43	4	200	4	KIAA0513	16	85100875	Missense_Mutation	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		85100875	5253878	15	6297											
ZNF610	162963	broad.mit.edu	37	19	52869879	52869879	+	Silent	SNP	C	C	A	rs139676524		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr19:52869879C>A	ENST00000403906.3	+	6	1704	c.1248C>A	c.(1246-1248)acC>acA	p.T416T	ZNF610_ENST00000601151.1_Silent_p.T373T|ZNF610_ENST00000327920.8_Silent_p.T416T|ZNF610_ENST00000321287.8_Silent_p.T416T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					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(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TATACCTAACCAACCATCAGA	0.423																																						uc002pyx.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1246-1248)acC>acA		Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.							61	58	59					19																	52869879		2203	4300	6503	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869879C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1248C>A	19.37:g.52869879C>A			Somatic				ZNF610_uc002pyy.4_Silent_p.T416T|ZNF610_uc002pyz.4_Silent_p.T373T|ZNF610_uc002pza.3_Silent_p.T416T	p.T416T	NM_001161426	NP_775801	WXS	Illumina GAIIx	Phase_I	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1654	+			416					A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.1248C>A	CCDS12851.1																																																																																				0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		3	86	0	0	0	1	0	3	86					A	52869879	C	A	52869879	2	1	369	1	0	0	0	0	0	0	0	1	18033	581	21	4		4	ZNF610	19	52869879	Silent	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08		52869879	6259104	16	6298											
SHROOM2	357	broad.mit.edu	37	X	9841718	9841718	+	Silent	SNP	G	G	A	rs139542964		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:9841718G>A	ENST00000380913.3	+	2	282	c.192G>A	c.(190-192)gcG>gcA	p.A64A	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	64	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)				AAGCCGCGGCGGTCGACAAGT	0.537											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	8e-04	0	3775	,	,		14710	0		0	False		,,,				2504	0					uc004csu.1																			0		p.A63T(1)		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.(190-192)gcG>gcA		Homo sapiens shroom family member 2 (SHROOM2), mRNA.		G		1,3834		0,1,1631,571	98	87	90		192	-10.5	0.0	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous	SHROOM2	NM_001649.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		64/1617	9841718	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	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:9841718G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.192G>A	X.37:g.9841718G>A			Somatic	OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	660		p.A64A	NM_001649	NP_001640	WXS	Illumina GAIIx	Phase_I	Q13796	SHRM2_HUMAN			1	282	+		Hepatocellular(5;0.000888)	64			PDZ.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.192G>A	CCDS14135.1																																																																																				0.537	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	134	0	0	0	1	0	6	134					A	9841718	G	A	9841718	2	1	369	1	0	0	0	0	0	0	0	1	14294	1103	39	1		1	SHROOM2	23	9841718	Silent	SNP	G	TCGA-FY-A3R7-01A-11D-A21Z-08		9841718	145428842	17	6299											
MAMLD1	10046	broad.mit.edu	37	X	149631107	149631107	+	Missense_Mutation	SNP	C	C	T	rs372258309		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:149631107C>T	ENST00000370401.2	+	3	476	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H56Y			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	56					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAAAGCATCAGGTAAG	0.517																																						uc004fee.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(166-168)Cat>Tat		Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 2, mRNA.		C	,,TYR/HIS	2,3224		0,1,1,1327,569	50	50	50		,,166	-0.3	0.0	X		50	0,6449		0,0,0,2334,1781	no	intron,intron,missense	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	,,83	0,1,1,3661,2350	TT,TC,T,CC,C		0.0,0.062,0.0207	,,	,,56/775	149631107	2,9673	1898	4115	6013	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149631107C>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.166C>T	X.37:g.149631107C>T	ENSP00000359428:p.His56Tyr		Somatic				MAMLD1_uc011mxt.1_Missense_Mutation_p.H18Y|MAMLD1_uc011mxu.2_Intron|MAMLD1_uc011mxv.2_Intron	p.H56Y	NM_005491	NP_005482	WXS	Illumina GAIIx	Phase_I	Q13495	MAMD1_HUMAN			1	229	+	Acute lymphoblastic leukemia(192;6.56e-05)		56					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.166C>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438085	0.04636	6.2E-4	0.0	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000358892;ENST00000262858	T;T	0.57907	0.37;0.37	0.938	-0.266	0.12942	.	0.258711	0.18519	U	0.138824	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.27887	0.084	T	0.10590	-1.0623	10	0.52906	T	0.07	.	2.9482	0.05853	0.0:0.5283:0.0:0.4717	.	56	Q13495	MAMD1_HUMAN	Y	18;56;56;56	ENSP00000359428:H56Y;ENSP00000262858:H56Y	ENSP00000262858:H56Y	H	+	1	0	MAMLD1	149381765	0.070000	0.21116	0.006000	0.13384	0.013000	0.08279	0.113000	0.15499	-0.147000	0.11254	0.468000	0.43344	CAT		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	61	0	0	0	1	0	9	61					T	149631107	C	T	149631107	3	4	369	1	0	0	0	0	1	0	0	0	9208	710	25	2	172	2	MAMLD1	23	149631107	Missense_Mutation	SNP	C	TCGA-FY-A3R7-01A-11D-A21Z-08	139789389	149631107	5639453	18	6300											
SLC2A5	6518	broad.mit.edu	37	1	9117665	9117665	+	Silent	SNP	G	G	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:9117665G>C	ENST00000377424.4	-	3	314	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.L45L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	45					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTTGCATGAGCTAGGAGA	0.423																																						uc001apo.3																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(133-135)ctC>ctG		Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.							80	69	73					1																	9117665		2203	4300	6503	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9117665G>C	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"Solute carriers"	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.135C>G	1.37:g.9117665G>C			Somatic				SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Intron|SLC2A5_uc010oac.2_Silent_p.L45L|SLC2A5_uc001app.4_Silent_p.L45L|SLC2A5_uc021ofv.1_Non-coding_Transcript	p.L45L	NM_003039	NP_003030	WXS	Illumina GAIIx	Phase_I	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	2	427	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	45					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.135C>G	CCDS99.1																																																																																				0.423	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		13	16	0	0	0	1	0	13	16					C	9117665	G	C	9117665	2	2	370	1	0	0	0	0	0	0	0	1	14548	1277	45	4		4	SLC2A5	1	9117665	Silent	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08		9117665	240132956	1	6301											
AKR7L	246181	broad.mit.edu	37	1	19597040	19597040	+	RNA	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:19597040C>T	ENST00000429712.1	-	0	531				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						CCAAGCTCCACGAACTTGCCC	0.617																																						uc021oho.1																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(73-75)tcG>tcA		Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 2, non-coding RNA.																																						246181							g.chr1:19597040C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597040C>T			Somatic				AKR7L_uc021ohn.1_5'UTR	p.S25S			WXS	Illumina GAIIx	Phase_I					2	412	-								Q5U614	Silent	SNP	ENST00000429712.1	37	c.75G>A		.	.	.	.	.	.	.	.	.	.	C	4.613	0.113921	0.08831	.	.	ENSG00000211454	ENST00000429712	.	.	.	4.19	2.28	0.28536	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.24974	0.057	T	0.14924	-1.0455	8	0.45353	T	0.12	.	3.7801	0.08677	0.0:0.5287:0.1895:0.2817	.	138	Q8NHP1	ARK74_HUMAN	M	138	.	ENSP00000411913:V138M	V	-	1	0	AKR7L	19469627	1.000000	0.71417	0.959000	0.39883	0.066000	0.16364	2.798000	0.47884	0.522000	0.28464	-0.259000	0.10710	GTG		0.617	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	40	0	0	0	1	0	3	40					T	19597040	C	T	19597040	1	4	370	0	1	0	0	0	0	0	0	0	477	536	19	1		1	AKR7L	1	19597040	RNA	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	10479375	19597040	229653581	2	6302											
FLG	2312	broad.mit.edu	37	1	152285714	152285714	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:152285714T>C	ENST00000368799.1	-	3	1683	c.1648A>G	c.(1648-1650)Aca>Gca	p.T550A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	550	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGATGTGGTGTGGCTG	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1648-1650)Aca>Gca		Homo sapiens filaggrin (FLG), mRNA.							385	374	378					1																	152285714		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285714T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1648A>G	1.37:g.152285714T>C	ENSP00000357789:p.Thr550Ala		Somatic				AK056431_uc001ezv.3_5'Flank	p.T550A	NM_002016	NP_002007	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1684	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		550			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1648A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.964	0.747657	0.15710	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00840	5.63	2.02	-4.04	0.04010	.	.	.	.	.	T	0.00468	0.0015	M	0.75447	2.3	0.09310	N	1	B	0.28820	0.224	B	0.39379	0.298	T	0.42649	-0.9439	9	0.09084	T	0.74	.	3.8193	0.08828	0.5981:0.2379:0.0:0.164	.	550	P20930	FILA_HUMAN	A	550;82	ENSP00000357789:T550A	ENSP00000357789:T550A	T	-	1	0	FLG	150552338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.065000	0.03458	-0.875000	0.04022	-0.449000	0.05564	ACA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		56	315	0	0	0	1	0	56	315					C	152285714	T	C	152285714	3	2	370	1	0	0	0	0	1	0	0	0	5922	1696	59	3	10541	3	FLG	1	152285714	Missense_Mutation	SNP	T	TCGA-FY-A3R8-01A-11D-A21Z-08	132688674	152285714	96964907	3	6303											
PAQR6	79957	broad.mit.edu	37	1	156215632	156215632	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:156215632G>T	ENST00000292291.5	-	4	484	c.326C>A	c.(325-327)cCc>cAc	p.P109H	PAQR6_ENST00000368270.1_Missense_Mutation_p.P85H|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.P3H|PAQR6_ENST00000335852.1_Missense_Mutation_p.P3H|PAQR6_ENST00000540423.1_Missense_Mutation_p.P106H	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	109						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCGCATGCGGGGCGACATGGA	0.697																																					GBM(16;219 398 12385 32425 38531)	uc001fnz.1																			0				lung(4)|ovary(1)	5						c.(7-9)cCc>cAc		Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.							24	23	23					1																	156215632		2197	4290	6487	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156215632G>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.326C>A	1.37:g.156215632G>T	ENSP00000292291:p.Pro109His		Somatic				PAQR6_uc001fnv.1_Missense_Mutation_p.P85H|PAQR6_uc010phg.1_Missense_Mutation_p.P106H|PAQR6_uc001fnx.1_Missense_Mutation_p.P3H|PAQR6_uc001fnu.1_Missense_Mutation_p.P109H|PAQR6_uc010phf.1_5'UTR|PAQR6_uc001fny.1_5'UTR|PAQR6_uc010phh.1_Missense_Mutation_p.P109H|PAQR6_uc001foa.1_Missense_Mutation_p.P3H|PAQR6_uc001fob.1_Non-coding_Transcript	p.P3H	NM_024897	NP_079173	WXS	Illumina GAIIx	Phase_I	Q6TCH4	PAQR6_HUMAN			2	624	-	Hepatocellular(266;0.158)		109					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.8C>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714662	0.48622	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.43	4.43	0.53597	.	.	.	.	.	T	0.22044	0.0531	L	0.57536	1.79	0.38823	D	0.955682	B;P;B	0.40909	0.066;0.732;0.066	B;B;B	0.40901	0.061;0.343;0.061	T	0.04840	-1.0923	9	0.45353	T	0.12	-4.0971	14.5509	0.68065	0.0:0.0:1.0:0.0	.	106;3;109	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	H	109;3;3;3;85;106	ENSP00000292291:P109H;ENSP00000353961:P3H;ENSP00000338330:P3H;ENSP00000349474:P3H;ENSP00000357253:P85H;ENSP00000443167:P106H	ENSP00000292291:P109H	P	-	2	0	PAQR6	154482256	0.747000	0.28283	1.000000	0.80357	0.988000	0.76386	3.736000	0.55052	2.266000	0.75297	0.462000	0.41574	CCC		0.697	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		3	7	0	0	0	1	0	3	7					T	156215632	G	T	156215632	3	4	370	1	0	0	0	0	1	0	0	0	11439	1232	43	4	1067	4	PAQR6	1	156215632	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	3929918	156215632	93034989	4	6304											
ITIH1	3697	broad.mit.edu	37	3	52820397	52820397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:52820397delC	ENST00000273283.2	+	13	1704	c.1680delC	c.(1678-1680)aacfs	p.N560fs	ITIH1_ENST00000542827.1_Frame_Shift_Del_p.N560fs|ITIH1_ENST00000540715.1_Frame_Shift_Del_p.N418fs|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Frame_Shift_Del_p.N272fs	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	560	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCTGGAGAACCACGTCGAGC	0.602																																						uc003dfs.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1678-1680)aacfs		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.			,,,	0,4262		0,0,2131	50	39	43		,,,	5.5	1.0	3		43	2,8246		0,2,4122	no	frameshift,frameshift,frameshift,frameshift	ITIH1	NM_002215.2,NM_001166436.1,NM_001166435.1,NM_001166434.1	,,,	0,2,6253	A1A1,A1R,RR		0.0242,0.0,0.016	,,,	,,,	52820397	2,12508	2203	4297	6500	SO:0001589	frameshift_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52820397delC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1680delC	3.37:g.52820397delC	ENSP00000273283:p.Asn560fs		Somatic				ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Frame_Shift_Del_p.N418fs|ITIH1_uc021wzg.1_Frame_Shift_Del_p.N272fs|ITIH1_uc021wzh.1_Frame_Shift_Del_p.N272fs|ITIH1_uc003dft.3_Frame_Shift_Del_p.N161fs	p.N560fs	NM_002215	NP_002206	WXS	Illumina GAIIx	Phase_I	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	12	1710	+			560			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Frame_Shift_Del	DEL	ENST00000273283.2	37	c.1680delC	CCDS2864.1																																																																																				0.602	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		4	2						4	2	---	---	---	---	-	52820397	C	-	52820397	7	5	370	1	0	1	0	1	0	0	0	0	7903	506	18	0	1730	0	ITIH1	3	52820397	Frame_Shift_Del	DEL	C	TCGA-FY-A3R8-01A-11D-A21Z-08		52820397	145202033	5	6305											
RYK	6259	broad.mit.edu	37	3	133894572	133894572	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:133894572G>C	ENST00000427044.2	-	14	1499	c.889C>G	c.(889-891)Ctc>Gtc	p.L297V	RYK_ENST00000296084.4_Missense_Mutation_p.L487V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	483					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TCTCTGGAGAGGGCATTGTCT	0.408																																						uc003eqc.1																			0				lung(1)|ovary(3)	4						c.(1453-1455)Ctc>Gtc		Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.							122	117	118					3																	133894572		1902	4135	6037	SO:0001583	missense	6259				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133894572G>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.889C>G	3.37:g.133894572G>C	ENSP00000399527:p.Leu297Val		Somatic				RYK_uc003eqd.1_Missense_Mutation_p.L482V	p.L485V	NM_001005861	NP_001005861	WXS	Illumina GAIIx	Phase_I	P34925	RYK_HUMAN			13	1551	-			483			Protein kinase.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.1453C>G		.	.	.	.	.	.	.	.	.	.	G	20.6	4.019720	0.75275	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	D;D	0.90732	-2.72;-2.72	5.72	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059741	0.64402	D	0.000001	D	0.91362	0.7275	M	0.89601	3.045	0.80722	D	1	B;B	0.29531	0.247;0.208	B;B	0.30105	0.111;0.067	D	0.91034	0.4866	10	0.87932	D	0	-4.6972	10.5081	0.44845	0.0686:0.0:0.7967:0.1346	.	483;486	P34925;P34925-2	RYK_HUMAN;.	V	487;297	ENSP00000296084:L487V;ENSP00000399527:L297V	ENSP00000296084:L487V	L	-	1	0	RYK	135377262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.401000	0.73256	1.423000	0.47198	0.655000	0.94253	CTC		0.408	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		10	60	0	0	0	1	0	10	60					C	133894572	G	C	133894572	3	2	370	1	0	0	0	0	1	0	0	0	13767	1000	35	4	379	4	RYK	3	133894572	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	81074175	133894572	64127858	6	6306											
CORIN	10699	broad.mit.edu	37	4	47644047	47644047	+	Silent	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:47644047C>A	ENST00000273857.4	-	16	2087	c.2088G>T	c.(2086-2088)gtG>gtT	p.V696V	CORIN_ENST00000508498.1_Silent_p.V557V|CORIN_ENST00000505909.1_Silent_p.V659V|CORIN_ENST00000502252.1_Silent_p.V629V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	696	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAGGAGTTCACATTTATAG	0.448																																						uc003gxm.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2086-2088)gtG>gtT		Homo sapiens corin, serine peptidase (CORIN), mRNA.							78	76	77					4																	47644047		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47644047C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2088G>T	4.37:g.47644047C>A			Somatic				CORIN_uc011bzf.2_Silent_p.V557V|CORIN_uc011bzg.2_Silent_p.V629V	p.V696V	NM_006587	NP_006578	WXS	Illumina GAIIx	Phase_I	Q9Y5Q5	CORIN_HUMAN			15	2181	-			696			SRCR.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2088G>T	CCDS3477.1																																																																																				0.448	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			9	31	0	0	0	1	0	9	31					A	47644047	C	A	47644047	2	1	370	1	0	0	0	0	0	0	0	1	3752	813	29	4		4	CORIN	4	47644047	Silent	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		47644047	143510229	7	6307											
BMP3	651	broad.mit.edu	37	4	81967362	81967362	+	Missense_Mutation	SNP	C	C	T	rs200302858		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:81967362C>T	ENST00000282701.2	+	2	1107	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	263					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACAGGGACACCGGAATTTTCC	0.498																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(787-789)Cgg>Tgg		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.							86	88	87					4																	81967362		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967362C>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.787C>T	4.37:g.81967362C>T	ENSP00000282701:p.Arg263Trp		Somatic					p.R263W	NM_001201	NP_001192	WXS	Illumina GAIIx	Phase_I	P12645	BMP3_HUMAN			1	1107	+			263					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.787C>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390416	0.11581	.	.	ENSG00000152785	ENST00000282701	T	0.74315	-0.83	5.27	3.52	0.40303	.	1.195350	0.05373	N	0.535747	T	0.66587	0.2804	L	0.31294	0.92	0.09310	N	1	B	0.23591	0.088	B	0.08055	0.003	T	0.56288	-0.8004	10	0.59425	D	0.04	.	12.2271	0.54465	0.0:0.8516:0.0:0.1484	.	263	P12645	BMP3_HUMAN	W	263	ENSP00000282701:R263W	ENSP00000282701:R263W	R	+	1	2	BMP3	82186386	0.001000	0.12720	0.079000	0.20413	0.002000	0.02628	0.397000	0.20883	1.372000	0.46190	0.655000	0.94253	CGG		0.498	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			4	59	0	0	0	1	0	4	59					T	81967362	C	T	81967362	3	4	370	1	0	0	0	0	1	0	0	0	1461	643	23	1	793	1	BMP3	4	81967362	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	34323315	81967362	109186914	8	6308											
ADAMTS16	170690	broad.mit.edu	37	5	5239340	5239340	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr5:5239340C>A	ENST00000274181.7	+	15	2369	c.2231C>A	c.(2230-2232)gCc>gAc	p.A744D		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	744	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AATAACTCAGCCTGCACGATT	0.522																																						uc003jdl.3																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2230-2232)gCc>gAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							235	231	233					5																	5239340		2065	4216	6281	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239340C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2231C>A	5.37:g.5239340C>A	ENSP00000274181:p.Ala744Asp		Somatic				ADAMTS16_uc003jdk.1_Missense_Mutation_p.A744D|ADAMTS16_uc010itk.1_Non-coding_Transcript	p.A744D	NM_139056	NP_620687	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			14	2369	+			744			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2231C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183814	0.38609	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.68479	-0.33	5.85	-3.05	0.05396	.	0.580480	0.16341	N	0.218690	T	0.35364	0.0929	N	0.02830	-0.485	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.21075	-1.0256	10	0.39692	T	0.17	.	9.2943	0.37806	0.1685:0.4796:0.3519:0.0	.	744;744	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	D	744	ENSP00000274181:A744D	ENSP00000274181:A744D	A	+	2	0	ADAMTS16	5292340	0.022000	0.18835	0.011000	0.14972	0.971000	0.66376	0.513000	0.22770	-0.438000	0.07232	-0.274000	0.10170	GCC		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		23	83	0	0	0	1	0	23	83					A	5239340	C	A	5239340	3	1	370	1	0	0	0	0	1	0	0	0	261	739	26	4	2289	4	ADAMTS16	5	5239340	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		5239340	175675920	9	6309											
MRAP2	112609	broad.mit.edu	37	6	84799015	84799015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr6:84799015C>T	ENST00000257776.4	+	4	568	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	145					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CGTCCAACTCCAGGAAGCCAT	0.522																																						uc003pkg.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(433-435)Cag>Tag		Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.							113	106	108					6																	84799015		2203	4300	6503	SO:0001587	stop_gained	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799015C>T	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.433C>T	6.37:g.84799015C>T	ENSP00000257776:p.Gln145*		Somatic				MRAP2_uc010kbo.3_Nonsense_Mutation_p.Q59*	p.Q145*	NM_138409	NP_612418	WXS	Illumina GAIIx	Phase_I	Q96G30	MRAP2_HUMAN			3	623	+			145					A8K9M1|Q8IXM9|Q8N2D1	Nonsense_Mutation	SNP	ENST00000257776.4	37	c.433C>T	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229615	0.58777	.	.	ENSG00000135324	ENST00000257776	.	.	.	5.18	5.18	0.71444	.	0.282103	0.35936	N	0.002900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.9859	19.0609	0.93093	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000257776:Q145X	Q	+	1	0	MRAP2	84855734	1.000000	0.71417	0.996000	0.52242	0.148000	0.21650	5.723000	0.68492	2.589000	0.87451	0.655000	0.94253	CAG		0.522	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		25	25	0	0	0	1	0	25	25					T	84799015	C	T	84799015	4	4	370	1	0	0	0	0	0	1	0	0	9754	595	21	2	443	2	MRAP2	6	84799015	Nonsense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		84799015	86316052	10	6310											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	53	0	0	0	1	0	24	53					T	140453136	A	T	140453136	3	4	370	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		140453136	18685527	11	6311											
COL22A1	169044	broad.mit.edu	37	8	139662001	139662001	+	Silent	SNP	A	A	G			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr8:139662001A>G	ENST00000303045.6	-	46	3800	c.3354T>C	c.(3352-3354)ccT>ccC	p.P1118P	COL22A1_ENST00000435777.1_Silent_p.P1098P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1118	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			GGGGGCCAGGAGGGCAGTCAT	0.527										HNSCC(7;0.00092)																												uc003yvd.3																			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.(3352-3354)ccT>ccC		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							55	52	53					8																	139662001		2202	4300	6502	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139662001A>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3354T>C	8.37:g.139662001A>G		HNSCC(7;0.00092)	Somatic				COL22A1_uc011ljo.2_Silent_p.P398P	p.P1118P	NM_152888	NP_690848	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		45	3801	-	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)		1118			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3354T>C	CCDS6376.1																																																																																				0.527	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	29	0	0	0	1	0	5	29					G	139662001	A	G	139662001	2	3	370	1	0	0	0	0	0	0	0	1	3681	291	11	3		3	COL22A1	8	139662001	Silent	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		139662001	6702021	12	6312											
ZNF488	118738	broad.mit.edu	37	10	48371510	48371510	+	Missense_Mutation	SNP	C	C	G	rs181686195		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:48371510C>G	ENST00000395702.2	+	2	1205	c.978C>G	c.(976-978)ttC>ttG	p.F326L	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.F219L			Q96MN9	ZN488_HUMAN	zinc finger protein 488	326					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGGAGCACTTCCGGGAGCGCC	0.622																																						uc001jex.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(976-978)ttC>ttG		Homo sapiens zinc finger protein 488 (ZNF488), mRNA.							76	78	77					10																	48371510		2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371510C>G	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.978C>G	10.37:g.48371510C>G	ENSP00000379054:p.Phe326Leu		Somatic				ZNF488_uc021ppx.1_Missense_Mutation_p.F326L	p.F326L	NM_153034	NP_694579	WXS	Illumina GAIIx	Phase_I	Q96MN9	ZN488_HUMAN			1	1140	+			326					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.978C>G	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181265	0.94846	.	.	ENSG00000165388	ENST00000395702	T	0.42131	0.98	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	U	0.000000	T	0.68311	0.2987	M	0.80847	2.515	0.43321	D	0.995343	D	0.89917	1.0	D	0.91635	0.999	T	0.72157	-0.4375	10	0.87932	D	0	.	18.4968	0.90867	0.0:1.0:0.0:0.0	.	326	Q96MN9	ZN488_HUMAN	L	326	ENSP00000379054:F326L	ENSP00000379054:F326L	F	+	3	2	ZNF488	47991516	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.834000	0.39171	2.682000	0.91365	0.655000	0.94253	TTC		0.622	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		14	71	0	0	0	1	0	14	71					G	48371510	C	G	48371510	3	3	370	1	0	0	0	0	1	0	0	0	17937	854	30	4	980	4	ZNF488	10	48371510	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		48371510	87163237	13	6313											
PIK3AP1	118788	broad.mit.edu	37	10	98416610	98416610	+	Missense_Mutation	SNP	G	G	A	rs567912958	byFrequency	TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:98416610G>A	ENST00000339364.5	-	3	631	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PIK3AP1_ENST00000371110.2_De_novo_Start_InFrame|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	171					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGAAGTCACCGTCGGCAGGTT	0.577													G|||	3	0.000599042	0	0	5008	,	,		19160	0		0	False		,,,				2504	0.0031					uc001kmq.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(511-513)aCg>aTg		Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.							129	102	111					10																	98416610		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98416610G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.512C>T	10.37:g.98416610G>A	ENSP00000339826:p.Thr171Met		Somatic				PIK3AP1_uc001kmp.3_5'UTR	p.T171M	NM_152309	NP_689522	WXS	Illumina GAIIx	Phase_I	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	640	-		Colorectal(252;0.0442)	171					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.512C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222255	0.09863	.	.	ENSG00000155629	ENST00000339364	T	0.10477	2.87	5.01	-5.11	0.02901	.	1.960350	0.01993	N	0.045656	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	P	0.39181	0.663	B	0.27500	0.08	T	0.32613	-0.9900	10	0.51188	T	0.08	5.1967	7.3951	0.26931	0.5281:0.0:0.3624:0.1095	.	171	Q6ZUJ8	BCAP_HUMAN	M	171	ENSP00000339826:T171M	ENSP00000339826:T171M	T	-	2	0	PIK3AP1	98406600	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.003000	0.01463	-1.065000	0.03168	0.561000	0.74099	ACG		0.577	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		4	63	0	0	0	1	0	4	63					A	98416610	G	A	98416610	3	1	370	1	0	0	0	0	1	0	0	0	11908	1145	40	1	1965	1	PIK3AP1	10	98416610	Missense_Mutation	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08	50045100	98416610	37118137	14	6314											
DCLRE1A	9937	broad.mit.edu	37	10	115595057	115595057	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:115595057C>T	ENST00000361384.2	-	9	3894	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E993K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	993					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGCTGTGTTCACTGTAAGGA	0.353								Other identified genes with known or suspected DNA repair function																														uc001law.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(2977-2979)Gaa>Aaa	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.							82	77	79					10																	115595057		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115595057C>T		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2977G>A	10.37:g.115595057C>T	ENSP00000355185:p.Glu993Lys		Somatic					p.E993K	NM_014881	NP_055696	WXS	Illumina GAIIx	Phase_I	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	8	3895	-			993					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2977G>A	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379252	0.95945	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.74421	-0.84;-0.84	5.32	5.32	0.75619	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	D	0.90501	0.7024	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93032	0.6449	10	0.87932	D	0	-28.9227	17.5439	0.87856	0.0:1.0:0.0:0.0	.	993	Q6PJP8	DCR1A_HUMAN	K	993	ENSP00000355185:E993K;ENSP00000358311:E993K	ENSP00000355185:E993K	E	-	1	0	DCLRE1A	115585047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.389000	0.79806	2.648000	0.89879	0.655000	0.94253	GAA		0.353	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		6	34	0	0	0	1	0	6	34					T	115595057	C	T	115595057	3	4	370	1	0	0	0	0	1	0	0	0	4294	835	29	2	149	2	DCLRE1A	10	115595057	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08	17178447	115595057	19939690	15	6315											
LGR4	55366	broad.mit.edu	37	11	27390293	27390293	+	Silent	SNP	G	G	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:27390293G>A	ENST00000379214.4	-	18	2420	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	LGR4_ENST00000389858.4_Silent_p.L635L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	659					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAACTGTTTGAGATGATTGC	0.413																																						uc001mrj.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1975-1977)ctC>ctT		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.							91	87	88					11																	27390293		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390293G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1977C>T	11.37:g.27390293G>A			Somatic				LGR4_uc001mrk.4_Silent_p.L635L	p.L659L	NM_018490	NP_060960	WXS	Illumina GAIIx	Phase_I	Q9BXB1	LGR4_HUMAN			17	2462	-			659					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.1977C>T	CCDS31449.1																																																																																				0.413	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		13	62	0	0	0	1	0	13	62					A	27390293	G	A	27390293	2	1	370	1	0	0	0	0	0	0	0	1	8756	1277	45	2		2	LGR4	11	27390293	Silent	SNP	G	TCGA-FY-A3R8-01A-11D-A21Z-08		27390293	107616223	16	6316											
OPCML	4978	broad.mit.edu	37	11	132812836	132812836	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:132812836T>C	ENST00000331898.7	-	1	730	c.152A>G	c.(151-153)gAg>gGg	p.E51G	OPCML_ENST00000541867.1_Missense_Mutation_p.E51G|OPCML_ENST00000374778.4_Missense_Mutation_p.E10G|OPCML_ENST00000524381.1_Missense_Mutation_p.E44G|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	51	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTGGCGCTCTCCCCCTGCCG	0.667																																						uc010sck.2																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(151-153)gAg>gGg		Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.							67	69	68					11																	132812836		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812836T>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.152A>G	11.37:g.132812836T>C	ENSP00000330862:p.Glu51Gly		Somatic				OPCML_uc001qgu.3_Missense_Mutation_p.E44G|OPCML_uc001qgs.3_Missense_Mutation_p.E51G|OPCML_uc001qgt.3_Missense_Mutation_p.E51G|OPCML_uc010scl.2_Missense_Mutation_p.E10G	p.E51G	NM_002545	NP_002536	WXS	Illumina GAIIx	Phase_I	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	0	202	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	51			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.152A>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744568	0.89663	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070344	0.56097	D	0.000038	T	0.35008	0.0917	L	0.38531	1.155	0.50813	D	0.999891	P;P;P;P	0.41569	0.607;0.755;0.607;0.607	P;P;P;P	0.46208	0.507;0.507;0.507;0.507	T	0.12785	-1.0534	10	0.87932	D	0	-17.2912	15.9822	0.80121	0.0:0.0:0.0:1.0	.	51;44;51;51	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	G	51;44;10;44;51	ENSP00000330862:E51G;ENSP00000434750:E44G;ENSP00000363910:E10G;ENSP00000445496:E51G	ENSP00000330862:E51G	E	-	2	0	OPCML	132318046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.186000	0.69663	0.533000	0.62120	GAG		0.667	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		3	31	0	0	0	1	0	3	31					C	132812836	T	C	132812836	3	2	370	1	0	0	0	0	1	0	0	0	10874	1551	54	3	913	3	OPCML	11	132812836	Missense_Mutation	SNP	T	TCGA-FY-A3R8-01A-11D-A21Z-08	105422543	132812836	2193680	17	6317											
KRTAP24-1	643803	broad.mit.edu	37	21	31654786	31654786	+	Silent	SNP	A	A	G			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr21:31654786A>G	ENST00000340345.4	-	1	490	c.465T>C	c.(463-465)ctT>ctC	p.L155L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	155						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAAGCAGTTAAGTTGTCCAA	0.458																																						uc002ynv.3																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(463-465)ctT>ctC		Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.							134	132	133					21																	31654786		1923	4141	6064	SO:0001819	synonymous_variant	643803					keratin filament	structural molecule activity	g.chr21:31654786A>G	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.465T>C	21.37:g.31654786A>G			Somatic					p.L155L	NM_001085455	NP_001078924	WXS	Illumina GAIIx	Phase_I	Q3LI83	KR241_HUMAN			0	491	-			155					Q1XDX0	Silent	SNP	ENST00000340345.4	37	c.465T>C	CCDS42915.1																																																																																				0.458	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		6	89	0	0	0	1	0	6	89					G	31654786	A	G	31654786	2	3	370	1	0	0	0	0	0	0	0	1	8542	349	13	3		3	KRTAP24-1	21	31654786	Silent	SNP	A	TCGA-FY-A3R8-01A-11D-A21Z-08		31654786	16475109	18	6318											
FGD1	2245	broad.mit.edu	37	X	54492189	54492189	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chrX:54492189C>A	ENST00000375135.3	-	7	2170	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	479	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTTGACCAGCTCCACGGCCC	0.547																																						uc004dtg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1435-1437)gaG>gaT		Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.							89	68	75					X																	54492189		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chrX:54492189C>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1437G>T	X.37:g.54492189C>A	ENSP00000364277:p.Glu479Asp		Somatic				FGD1_uc011moi.1_Missense_Mutation_p.E237D	p.E479D	NM_004463	NP_004454	WXS	Illumina GAIIx	Phase_I	P98174	FGD1_HUMAN			6	2171	-			479			DH.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1437G>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010093	0.35415	.	.	ENSG00000102302	ENST00000375135	T	0.64260	-0.09	5.54	1.81	0.25067	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000062	T	0.53302	0.1788	L	0.38692	1.165	0.37180	D	0.903445	B;B	0.21225	0.053;0.043	B;B	0.35688	0.208;0.124	T	0.50634	-0.8805	10	0.38643	T	0.18	-7.5162	9.0654	0.36460	0.0:0.6117:0.0:0.3883	.	237;479	B4DS99;P98174	.;FGD1_HUMAN	D	479	ENSP00000364277:E479D	ENSP00000364277:E479D	E	-	3	2	FGD1	54508914	0.980000	0.34600	0.998000	0.56505	0.876000	0.50452	0.275000	0.18698	0.183000	0.20059	-1.261000	0.01458	GAG		0.547	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		13	24	0	0	0	1	0	13	24					A	54492189	C	A	54492189	3	1	370	1	0	0	0	0	1	0	0	0	5832	796	28	4	1496	4	FGD1	23	54492189	Missense_Mutation	SNP	C	TCGA-FY-A3R8-01A-11D-A21Z-08		54492189	100778371	19	6319											
COL11A1	1301	broad.mit.edu	37	1	103496733	103496733	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:103496733C>A	ENST00000370096.3	-	5	1031	c.719G>T	c.(718-720)aGt>aTt	p.S240I	COL11A1_ENST00000358392.2_Missense_Mutation_p.S240I|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240I|COL11A1_ENST00000512756.1_Missense_Mutation_p.S240I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Laminin G-like.|Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTGGACTATAATGCTC	0.453																																						uc001dum.3																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(718-720)aGt>aTt		Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.							110	97	101					1																	103496733		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103496733C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.719G>T	1.37:g.103496733C>A	ENSP00000359114:p.Ser240Ile		Somatic				COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.S240I|COL11A1_uc001dun.3_Missense_Mutation_p.S240I|COL11A1_uc009weh.3_Missense_Mutation_p.S240I	p.S240I	NM_080629	NP_542196	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	4	1037	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	240			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.719G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467084	0.43839	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	D;D;D;D;D;T	0.89270	-2.42;-2.44;-2.48;-2.49;-2.13;3.15	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);	0.181870	0.64402	D	0.000018	T	0.76205	0.3955	L	0.41027	1.25	0.48830	D	0.999717	B;B;B;B	0.16603	0.0;0.004;0.018;0.002	B;B;B;B	0.12156	0.002;0.005;0.007;0.002	T	0.71364	-0.4615	10	0.17832	T	0.49	.	14.4336	0.67266	0.1474:0.8526:0.0:0.0	.	240;240;240;240	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	240;240;240;240;240;167	ENSP00000359114:S240I;ENSP00000351163:S240I;ENSP00000302551:S240I;ENSP00000426533:S240I;ENSP00000408640:S240I;ENSP00000410177:S167I	ENSP00000302551:S240I	S	-	2	0	COL11A1	103269321	1.000000	0.71417	0.944000	0.38274	0.998000	0.95712	3.550000	0.53691	2.631000	0.89168	0.551000	0.68910	AGT		0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	34	0	0	0	1	0	5	34					A	103496733	C	A	103496733	3	1	371	1	0	0	0	0	1	0	0	0	3667	565	20	4	5110	4	COL11A1	1	103496733	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		103496733	145753888	1	6320											
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		610	Substitution - Missense(609)|Complex(1)	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61K	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		83	128	0	0	0	1	0	83	128					T	115256530	G	T	115256530	3	4	371	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	11759797	115256530	133994091	2	6321											
HMCN1	83872	broad.mit.edu	37	1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	rs111360184		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557																																						uc001grq.1																			0		p.R4780W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14338-14340)cGg>cAg		Homo sapiens hemicentin 1 (HMCN1), mRNA.							97	87	91					1																	186114607		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114607G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14339G>A	1.37:g.186114607G>A	ENSP00000271588:p.Arg4780Gln		Somatic				MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R349Q	p.R4780Q	NM_031935	NP_114141	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			91	14568	+			4780			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14339G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404657	0.96051	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80738	-1.41;-1.41	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92916	0.6351	10	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	4780	Q96RW7	HMCN1_HUMAN	Q	4780	ENSP00000271588:R4780Q;ENSP00000356462:R4780Q	ENSP00000271588:R4780Q	R	+	2	0	HMCN1	184381230	1.000000	0.71417	0.994000	0.49952	0.752000	0.42762	9.338000	0.96553	2.551000	0.86045	0.655000	0.94253	CGG		0.557	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		25	50	0	0	0	1	0	25	50					A	186114607	G	A	186114607	3	1	371	1	0	0	0	0	1	0	0	0	7220	1116	39	1	14705	1	HMCN1	1	186114607	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	70858077	186114607	63136014	3	6322											
C1orf27	54953	broad.mit.edu	37	1	186359875	186359875	+	Silent	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186359875A>G	ENST00000287859.6	+	7	632	c.507A>G	c.(505-507)caA>caG	p.Q169Q	C1orf27_ENST00000367470.3_Silent_p.Q169Q|C1orf27_ENST00000432021.3_Silent_p.Q169Q|C1orf27_ENST00000419367.3_Silent_p.Q137Q	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	169						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAAGTATCAAAGTGGATTAT	0.373																																						uc021pgj.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(505-507)caA>caG		Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.							138	125	129					1																	186359875		1873	4117	5990	SO:0001819	synonymous_variant	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186359875A>G	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.507A>G	1.37:g.186359875A>G			Somatic				MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.Q169Q|C1orf27_uc021pgh.1_Silent_p.Q169Q|C1orf27_uc021pgi.1_Silent_p.Q137Q|C1orf27_uc021pgk.1_Silent_p.Q169Q|C1orf27_uc021pgl.1_Silent_p.Q137Q	p.Q169Q	NM_017847	NP_060317	WXS	Illumina GAIIx	Phase_I	Q5SWX8	ODR4_HUMAN			5	526	+			169					B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Silent	SNP	ENST00000287859.6	37	c.507A>G	CCDS53448.1																																																																																				0.373	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		27	34	0	0	0	1	0	27	34					G	186359875	A	G	186359875	2	3	371	1	0	0	0	0	0	0	0	1	2036	11	1	3		3	C1orf27	1	186359875	Silent	SNP	A	TCGA-FY-A3R9-01A-11D-A21Z-08	245268	186359875	62890746	4	6323											
RYR2	6262	broad.mit.edu	37	1	237791321	237791321	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:237791321G>A	ENST00000366574.2	+	41	6698	c.6381G>A	c.(6379-6381)cgG>cgA	p.R2127R	RYR2_ENST00000542537.1_Silent_p.R2111R|RYR2_ENST00000360064.6_Silent_p.R2125R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2127	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)			GTCAGATTCGGTCCCTGCTGA	0.483																																						uc001hyl.1																			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.(6379-6381)cgG>cgA		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							107	115	113					1																	237791321		2001	4173	6174	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.chr1:237791321G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6381G>A	1.37:g.237791321G>A			Somatic					p.R2127R	NM_001035	NP_001026	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6501	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2127			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6381G>A	CCDS55691.1																																																																																				0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	70	0	0	0	1	0	3	70					A	237791321	G	A	237791321	2	1	371	1	0	0	0	0	0	0	0	1	13769	1248	44	2		2	RYR2	1	237791321	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	51431446	237791321	11459300	5	6324											
OR2M5	127059	broad.mit.edu	37	1	248309215	248309215	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:248309215T>A	ENST00000366476.1	+	1	766	c.766T>A	c.(766-768)Ttg>Atg	p.L256M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	256						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(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGAGCAGGTTTGTTCATGTA	0.507																																						uc010pze.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(766-768)Ttg>Atg		Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.							217	198	204					1																	248309215		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309215T>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.766T>A	1.37:g.248309215T>A	ENSP00000355432:p.Leu256Met		Somatic					p.L256M	NM_001004690	NP_001004690	WXS	Illumina GAIIx	Phase_I	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		0	766	+	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)		256						Missense_Mutation	SNP	ENST00000366476.1	37	c.766T>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	0.007	-2.011014	0.00422	.	.	ENSG00000162727	ENST00000366476	T	0.45276	0.9	3.13	-6.26	0.02033	GPCR, rhodopsin-like superfamily (1);	0.686149	0.10987	U	0.612049	T	0.13157	0.0319	N	0.04820	-0.15	0.09310	N	1	B	0.16802	0.019	B	0.23018	0.043	T	0.21314	-1.0249	10	0.07990	T	0.79	.	1.7427	0.02955	0.2365:0.1862:0.0863:0.491	.	256	A3KFT3	OR2M5_HUMAN	M	256	ENSP00000355432:L256M	ENSP00000355432:L256M	L	+	1	2	OR2M5	246375838	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.032000	0.00084	-2.617000	0.00442	-0.600000	0.04104	TTG		0.507	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		82	202	0	0	0	1	0	82	202					A	248309215	T	A	248309215	3	1	371	1	0	0	0	0	1	0	0	0	11013	1838	64	5	768	5	OR2M5	1	248309215	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08	10517894	248309215	941406	6	6325											
SEPSECS	51091	broad.mit.edu	37	4	25125832	25125832	+	Silent	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:25125832C>A	ENST00000382103.2	-	11	1299	c.1227G>T	c.(1225-1227)ggG>ggT	p.G409G	SEPSECS_ENST00000515272.1_5'Flank|SEPSECS_ENST00000302922.3_Silent_p.G330G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	409					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TTTGCATGGACCCAAGAGGCA	0.388																																						uc003grg.3																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(1225-1227)ggG>ggT		Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	Pyridoxal Phosphate(DB00114)						80	75	77					4																	25125832		2203	4300	6503	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups	g.chr4:25125832C>A	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"soluble liver antigen/liver pancreas antigen"	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1227G>T	4.37:g.25125832C>A			Somatic				SEPSECS_uc003gri.3_Silent_p.G408G|SEPSECS_uc003grh.3_Silent_p.G330G	p.G409G	NM_016955	NP_058651	WXS	Illumina GAIIx	Phase_I	Q9HD40	SPCS_HUMAN			10	1440	-		Breast(46;0.173)	409					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.1227G>T	CCDS3432.2																																																																																				0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		7	46	0	0	0	1	0	7	46					A	25125832	C	A	25125832	2	1	371	1	0	0	0	0	0	0	0	1	14058	494	18	4		4	SEPSECS	4	25125832	Silent	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		25125832	166028444	7	6326											
AASDH	132949	broad.mit.edu	37	4	57215792	57215792	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:57215792C>G	ENST00000205214.6	-	11	2305	c.2125G>C	c.(2125-2127)Gac>Cac	p.D709H	AASDH_ENST00000602986.1_Missense_Mutation_p.D556H|AASDH_ENST00000451613.1_Missense_Mutation_p.D709H|AASDH_ENST00000434343.2_Missense_Mutation_p.D224H|AASDH_ENST00000513376.1_Missense_Mutation_p.D609H|AASDH_ENST00000502617.1_Missense_Mutation_p.D709H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	709					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAAACTGAGTCAGAAGGACAG	0.378																																						uc003hbn.3																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(2125-2127)Gac>Cac		Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.							62	64	63					4																	57215792		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding	g.chr4:57215792C>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2125G>C	4.37:g.57215792C>G	ENSP00000205214:p.Asp709His		Somatic				AASDH_uc010ihb.3_Missense_Mutation_p.D224H|AASDH_uc003hbo.3_Missense_Mutation_p.D609H|AASDH_uc011caa.2_Missense_Mutation_p.D556H|AASDH_uc011cab.2_Missense_Mutation_p.D224H|AASDH_uc010ihc.3_Missense_Mutation_p.D709H|AASDH_uc003hbp.3_Missense_Mutation_p.D709H	p.D709H	NM_181806	NP_861522	WXS	Illumina GAIIx	Phase_I	Q4L235	ACSF4_HUMAN			10	2278	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	709					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2125G>C	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329566	0.24167	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.66280	-0.2;-0.06;2.15;0.34;0.36	5.52	4.66	0.58398	.	0.706131	0.15236	N	0.273175	T	0.71056	0.3295	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.65815	0.995;0.989;0.989;0.98	P;P;P;P	0.57468	0.821;0.799;0.799;0.707	T	0.61357	-0.7079	10	0.37606	T	0.19	-6.7075	10.6796	0.45807	0.0:0.908:0.0:0.092	.	556;709;709;709	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	H	709;609;224;709;556;709	ENSP00000205214:D709H;ENSP00000423760:D609H;ENSP00000392158:D224H;ENSP00000409656:D709H;ENSP00000421171:D709H	ENSP00000205214:D709H	D	-	1	0	AASDH	56910549	0.001000	0.12720	0.007000	0.13788	0.049000	0.14656	0.707000	0.25704	1.496000	0.48567	0.650000	0.86243	GAC		0.378	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		4	81	0	0	0	1	0	4	81					G	57215792	C	G	57215792	3	3	371	1	0	0	0	0	1	0	0	0	22	826	29	4	1191	4	AASDH	4	57215792	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08	32089960	57215792	133938484	8	6327											
PCDHB7	56129	broad.mit.edu	37	5	140553586	140553586	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140553586C>T	ENST00000231137.3	+	1	1344	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	390	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)			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)			ACGATGTCCCCTTCATCCTGA	0.473																																						uc003lit.3																			0		p.P390S(2)		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.(1168-1170)ccC>ccT		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							74	75	75					5																	140553586		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553586C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1170C>T	5.37:g.140553586C>T			Somatic					p.P390P	NM_018940	NP_061763	WXS	Illumina GAIIx	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1344	+			390			Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1170C>T	CCDS4249.1																																																																																				0.473	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	63	0	0	0	1	0	8	63					T	140553586	C	T	140553586	2	4	371	1	0	0	0	0	0	0	0	1	11547	668	24	2		2	PCDHB7	5	140553586	Silent	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		140553586	40361674	9	6328											
PCDHGB5	56102	broad.mit.edu	37	5	140778384	140778384	+	Intron	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140778384C>T	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCCGGATCCAGGTAACCG	0.547																																						uc003lkf.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(688-690)atC>atT		Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.							100	106	104					5																	140778384		2017	4175	6192	SO:0001627	intron_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778384C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26008C>T	5.37:g.140778384C>T			Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I230I	p.I230I	NM_018925	NP_061748	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	690	+			230			Cadherin 2.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.690C>T	CCDS58980.1																																																																																				0.547	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		34	201	0	0	0	1	0	34	201					T	140778384	C	T	140778384	1	4	371	0	1	0	0	0	0	0	0	0	11566	845	30	2		2	PCDHGB5	5	140778384	Intron	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08	224798	140778384	40136876	10	6329											
ZNF187	0	broad.mit.edu	37	6	28244794	28244794	+	IGR	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:28244794G>T								NKAPL (16058 upstream) : PGBD1 (4519 downstream)																							TATCAGTGTAGTGAATGTGGA	0.423																																						uc011dlc.2																			0											c.(1357-1359)aGt>aTt		Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.							81	77	78					6																	28244794		1990	4189	6179	SO:0001628	intergenic_variant	7741				viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28244794G>T																													6.37:g.28244794G>T			Somatic				ZNF187_uc003nku.4_Missense_Mutation_p.S319I|ZNF187_uc003nkw.4_Missense_Mutation_p.S300I|ZNF187_uc011dle.2_Missense_Mutation_p.S300I|ZNF187_uc011dlf.2_Missense_Mutation_p.S245I|ZNF187_uc011dld.2_Missense_Mutation_p.S452I|ZNF187_uc011dlg.2_Missense_Mutation_p.S300I	p.S453I	NM_001023560	NP_001018854	WXS	Illumina GAIIx	Phase_I	Q16670	ZN187_HUMAN			4	1628	+			453						Missense_Mutation	SNP		37	c.1358G>T																																																																																				0	0.423									5	97	0	0	0	1	0	5	97					T	28244794	G	T	28244794	1	4	371	0	1	0	0	0	0	0	0	0	17750	1029	36	4		4	ZNF187	6	28244794	IGR	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		28244794	142870273	11	6330											
TRIM39	56658	broad.mit.edu	37	6	30297528	30297528	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:30297528A>G	ENST00000396547.1	+	2	594	c.434A>G	c.(433-435)gAt>gGt	p.D145G	TRIM39_ENST00000376659.5_Missense_Mutation_p.D145G|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.D57G|TRIM39_ENST00000396548.1_Missense_Mutation_p.D145G|HCG18_ENST00000426882.1_RNA|HCG18_ENST00000413358.2_RNA|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000396551.3_Missense_Mutation_p.D145G|TRIM39_ENST00000376656.4_Missense_Mutation_p.D145G|TRIM39_ENST00000540416.1_Missense_Mutation_p.D145G			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	145					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCACTGGACGATGCTACACAG	0.542																																						uc010jrz.3																			0											c.(433-435)gAt>gGt		Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.							60	64	63					6																	30297528		1508	2707	4215	SO:0001583	missense	202658					intracellular	zinc ion binding	g.chr6:30297528A>G	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.434A>G	6.37:g.30297528A>G	ENSP00000379796:p.Asp145Gly		Somatic				HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.D145G	p.D145G	NM_021253	NP_067076	WXS	Illumina GAIIx	Phase_I	A6ZJ12	A6ZJ12_HUMAN			2	746	+			57					Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.434A>G	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.56|17.56	3.420802|3.420802	0.62622|0.62622	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.094359|.	0.44285|.	D|.	0.000471|.	T|T	0.51244|0.51244	0.1663|0.1663	L|L	0.49126|0.49126	1.545|1.545	0.47037|0.47037	D|D	0.999293|0.999293	B;B;P|.	0.37061|.	0.288;0.128;0.58|.	B;B;B|.	0.42030|.	0.118;0.101;0.373|.	T|T	0.51364|0.51364	-0.8715|-0.8715	10|5	0.87932|.	D|.	0|.	.|.	13.3341|13.3341	0.60507|0.60507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	59;145;145|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	G|V	145;145;145;145;145;59;145;145;145;145;57|75	ENSP00000379800:D145G;ENSP00000365844:D145G;ENSP00000439400:D145G;ENSP00000406019:D145G;ENSP00000379797:D145G;ENSP00000365847:D145G;ENSP00000379796:D145G;ENSP00000424048:D57G|.	ENSP00000365844:D145G|.	D|M	+|+	2|1	0|0	TRIM39-RPP21;TRIM39|TRIM39	30405507|30405507	1.000000|1.000000	0.71417|0.71417	0.574000|0.574000	0.28523|0.28523	0.941000|0.941000	0.58515|0.58515	6.364000|6.364000	0.73086|0.73086	2.253000|2.253000	0.74438|0.74438	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		7	67	0	0	0	1	0	7	67					G	30297528	A	G	30297528	3	3	371	1	0	0	0	0	1	0	0	0	16510	333	12	3	436	3	TRIM39	6	30297528	Missense_Mutation	SNP	A	TCGA-FY-A3R9-01A-11D-A21Z-08	2052734	30297528	140817539	12	6331											
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					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)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552																																						uc003oeq.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(643-645)gaG>gaA		Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.							61	61	61					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423522G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.645G>A	6.37:g.33423522G>A			Somatic				ZBTB9_uc021ywp.1_Silent_p.E215E	p.E215E	NM_152735	NP_689948	WXS	Illumina GAIIx	Phase_I	Q96C00	ZBTB9_HUMAN			1	913	+			215					A2AB19	Silent	SNP	ENST00000395064.2	37	c.645G>A	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		3	97	0	0	0	1	0	3	97					A	33423522	G	A	33423522	2	1	371	1	0	0	0	0	0	0	0	1	17555	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	3125994	33423522	137691545	13	6332											
CSMD3	114788	broad.mit.edu	37	8	113267520	113267520	+	Silent	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:113267520T>A	ENST00000297405.5	-	62	10243	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000455883.2_Silent_p.A3164A|CSMD3_ENST00000343508.3_Silent_p.A3293A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3333	Sushi 26. {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						AAGTGCCATCTGCTTGACATA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			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.(9997-9999)gcA>gcT		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							133	120	124					8																	113267520		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113267520T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9999A>T	8.37:g.113267520T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Silent_p.A2535A|CSMD3_uc003ynt.3_Silent_p.A3293A|CSMD3_uc011lhx.2_Silent_p.A3164A	p.A3333A	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			61	10158	-			3333			Sushi 26.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9999A>T	CCDS6315.1																																																																																				0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	72	0	0	0	1	0	34	72					A	113267520	T	A	113267520	2	1	371	1	0	0	0	0	0	0	0	1	3946	1567	55	5		5	CSMD3	8	113267520	Silent	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		113267520	33096502	14	6333											
AKAP2	11217	broad.mit.edu	37	9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-	rs551064067	byFrequency	TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	ENST00000374525.1	+	1	41_58	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)cccccggagtctcctggadel	p.PPESPG19del	PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	373										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789														255	0.0509185	0.0038	0.0375	5008	,	,		10950	0.0417		0.0616	False		,,,				2504	0.1227					uc011lwi.2																			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.(37-54)cccccggagtctcctggadel		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	445815						enzyme binding	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.37_54delCCCCCGGAGTCTCCTGGA	9.37:g.112811016_112811033delCCCCCGGAGTCTCCTGGA	ENSP00000363649:p.Pro19_Gly24del		Somatic				PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron|PALM2-AKAP2_uc004bem.3_In_Frame_Del_p.PPESPG19del	p.PPESPG19del	NM_001198656	NP_001185585	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			0	139_156	+			373					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Del	DEL	ENST00000374525.1	37	c.37_54delCCCCCGGAGTCTCCTGGA	CCDS43861.1																																																																																				0.789	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065		3	5						3	5	---	---	---	---	-	112811033	CCCCCGGAGTCTCCTGGA	-	112811016	7	5	371	1	0	1	0	1	0	0	0	0	451	855	30	0	39	0	AKAP2	9	112811016	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	TCGA-FY-A3R9-01A-11D-A21Z-08		112811016	28402415	15	6334											
MAMDC4	158056	broad.mit.edu	37	9	139751442	139751442	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:139751442G>A	ENST00000317446.2	+	16	1971	c.1921G>A	c.(1921-1923)Gca>Aca	p.A641T	MAMDC4_ENST00000445819.1_Missense_Mutation_p.A720T|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTGCCAGCAGCACCCACGGA	0.687																																						uc004cjs.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(1921-1923)Gca>Aca		Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.							34	38	36					9																	139751442		2200	4298	6498	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139751442G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1921G>A	9.37:g.139751442G>A	ENSP00000319388:p.Ala641Thr		Somatic				MAMDC4_uc011mej.2_5'UTR	p.A641T	NM_206920	NP_996803	WXS	Illumina GAIIx	Phase_I	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	15	1971	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	720			MAM 3.			Missense_Mutation	SNP	ENST00000317446.2	37	c.1921G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.096|5.096	0.203294|0.203294	0.09704|0.09704	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.01787|.	4.64;4.64|.	5.02|5.02	1.93|1.93	0.25924|0.25924	.|.	0.781182|.	0.11425|.	N|.	0.565398|.	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.13327|0.13327	0.33|0.33	0.09310|0.09310	N|N	1|1	B|.	0.24618|.	0.107|.	B|.	0.22880|.	0.042|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.10111|.	T|.	0.7|.	-4.9669|-4.9669	8.9575|8.9575	0.35827|0.35827	0.2699:0.0:0.7301:0.0|0.2699:0.0:0.7301:0.0	.|.	641|.	Q6UXC1-2|.	.|.	T|N	641;720|705	ENSP00000319388:A641T;ENSP00000411339:A720T|.	ENSP00000319388:A641T|.	A|S	+|+	1|2	0|0	MAMDC4|MAMDC4	138871263|138871263	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.224000|0.224000	0.17738|0.17738	0.963000|0.963000	0.38082|0.38082	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		3	62	0	0	0	1	0	3	62					A	139751442	G	A	139751442	3	1	371	1	0	0	0	0	1	0	0	0	9204	971	34	2	1983	2	MAMDC4	9	139751442	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	26940426	139751442	1461989	16	6335											
SIDT2	51092	broad.mit.edu	37	11	117058406	117058406	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr11:117058406G>A	ENST00000324225.4	+	12	1681	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	SIDT2_ENST00000431081.2_Missense_Mutation_p.G388S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	384					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCTCTTACGGTTACCAGGG	0.592																																						uc001pqg.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1150-1152)Ggt>Agt		Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.							98	84	89					11																	117058406		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117058406G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1150G>A	11.37:g.117058406G>A	ENSP00000314023:p.Gly384Ser		Somatic				SIDT2_uc010rxe.1_Missense_Mutation_p.G384S|SIDT2_uc001pqh.1_Missense_Mutation_p.G384S|SIDT2_uc001pqi.1_Missense_Mutation_p.G388S	p.G384S	NM_001040455	NP_001035545	WXS	Illumina GAIIx	Phase_I	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	11	1191	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	384					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1150G>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203917	0.09704	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.20598	2.3;2.23;2.06	4.54	-2.79	0.05841	.	0.631387	0.16746	N	0.201237	T	0.10809	0.0264	L	0.28274	0.84	0.27269	N	0.958429	B;B;B;B	0.13594	0.002;0.007;0.008;0.005	B;B;B;B	0.10450	0.002;0.004;0.005;0.001	T	0.41360	-0.9513	10	0.07030	T	0.85	0.3993	11.4117	0.49929	0.5543:0.0:0.4457:0.0	.	384;388;384;384	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	384;384;388	ENSP00000314023:G384S;ENSP00000278951:G384S;ENSP00000399635:G388S	ENSP00000278951:G384S	G	+	1	0	SIDT2	116563616	0.000000	0.05858	0.172000	0.22920	0.690000	0.40134	-0.423000	0.07034	-0.772000	0.04602	0.462000	0.41574	GGT		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		16	81	0	0	0	1	0	16	81					A	117058406	G	A	117058406	3	1	371	1	0	0	0	0	1	0	0	0	14303	1116	39	1	1196	1	SIDT2	11	117058406	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		117058406	17948110	17	6336											
KRR1	11103	broad.mit.edu	37	12	75902108	75902108	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:75902108C>A	ENST00000229214.4	-	2	227	c.204G>T	c.(202-204)agG>agT	p.R68S	KRR1_ENST00000438169.2_Missense_Mutation_p.R68S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	68					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						AGTAAGCTTCCCTGTATTTTG	0.413																																						uc001sxt.3																			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.(202-204)agG>agT		Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.							117	110	113					12																	75902108		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75902108C>A	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.204G>T	12.37:g.75902108C>A	ENSP00000229214:p.Arg68Ser		Somatic				KRR1_uc009zsc.3_Missense_Mutation_p.R68S|KRR1_uc010stx.2_Missense_Mutation_p.R68S	p.R68S	NM_007043	NP_008974	WXS	Illumina GAIIx	Phase_I	Q13601	KRR1_HUMAN			1	245	-			68					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.204G>T	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854822	0.71719	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.45276	0.9;0.9	5.96	-0.577	0.11727	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.64618	-0.6365	10	0.87932	D	0	-15.0909	6.325	0.21239	0.0:0.2694:0.1196:0.6109	.	68;68;68	B4DMS5;E7EUQ0;Q13601	.;.;KRR1_HUMAN	S	68	ENSP00000229214:R68S;ENSP00000411740:R68S	ENSP00000229214:R68S	R	-	3	2	KRR1	74188375	1.000000	0.71417	0.983000	0.44433	0.924000	0.55760	0.578000	0.23773	-0.085000	0.12573	-0.937000	0.02696	AGG		0.413	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		13	60	0	0	0	1	0	13	60					A	75902108	C	A	75902108	3	1	371	1	0	0	0	0	1	0	0	0	8446	622	22	4	977	4	KRR1	12	75902108	Missense_Mutation	SNP	C	TCGA-FY-A3R9-01A-11D-A21Z-08		75902108	57949787	18	6337											
PRDM4	11108	broad.mit.edu	37	12	108128006	108128006	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:108128006G>T	ENST00000228437.5	-	12	2846	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	796					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						TGCAGAAAGAGACTCATCCGC	0.378																																						uc001tmp.3																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2386-2388)tCt>tAt		Homo sapiens PR domain containing 4 (PRDM4), mRNA.							130	126	128					12																	108128006		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.chr12:108128006G>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2387C>A	12.37:g.108128006G>T	ENSP00000228437:p.Ser796Tyr		Somatic				PRDM4_uc001tmq.3_Non-coding_Transcript	p.S796Y	NM_012406	NP_036538	WXS	Illumina GAIIx	Phase_I	Q9UKN5	PRDM4_HUMAN			11	2824	-			796					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2387C>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387628	0.42308	.	.	ENSG00000110851	ENST00000228437	T	0.11930	2.73	6.03	5.1	0.69264	.	0.456216	0.27147	N	0.020717	T	0.09949	0.0244	N	0.24115	0.695	0.19300	N	0.999977	B	0.32693	0.38	B	0.31751	0.135	T	0.22138	-1.0225	10	0.41790	T	0.15	-0.1345	11.5022	0.50444	0.076:0.1385:0.7855:0.0	.	796	Q9UKN5	PRDM4_HUMAN	Y	796	ENSP00000228437:S796Y	ENSP00000228437:S796Y	S	-	2	0	PRDM4	106652136	0.151000	0.22747	0.811000	0.32455	0.865000	0.49528	2.089000	0.41672	2.868000	0.98415	0.555000	0.69702	TCT		0.378	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		13	138	0	0	0	1	0	13	138					T	108128006	G	T	108128006	3	4	371	1	0	0	0	0	1	0	0	0	12459	942	33	4	22	4	PRDM4	12	108128006	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	32225898	108128006	25723889	19	6338											
TBC1D4	9882	broad.mit.edu	37	13	75930351	75930351	+	Silent	SNP	G	G	T	rs377252828		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:75930351G>T	ENST00000377636.3	-	4	1553	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.R403R|TBC1D4_ENST00000377625.2_Silent_p.R403R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	403	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAGACTCCCGGCAGATAAAG	0.413																																						uc001vjl.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1207-1209)Cgg>Agg		Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.							62	60	60					13																	75930351		1912	4137	6049	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75930351G>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1207C>A	13.37:g.75930351G>T			Somatic				TBC1D4_uc010aer.2_Silent_p.R403R|TBC1D4_uc010aes.2_Silent_p.R403R	p.R403R	NM_014832	NP_055647	WXS	Illumina GAIIx	Phase_I	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	3	1554	-		Prostate(6;0.014)|Breast(118;0.0982)	403			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.1207C>A	CCDS41901.1																																																																																				0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		5	45	0	0	0	1	0	5	45					T	75930351	G	T	75930351	2	4	371	1	0	0	0	0	0	0	0	1	15619	1115	39	4		4	TBC1D4	13	75930351	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		75930351	39239527	20	6339											
EXD2	55218	broad.mit.edu	37	14	69707775	69707775	+	Silent	SNP	G	G	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr14:69707775G>C	ENST00000409018.3	+	9	1952	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	EXD2_ENST00000409675.1_Silent_p.L483L|EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000409242.1_Silent_p.L483L|EXD2_ENST00000312994.5_Silent_p.L608L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Silent_p.L483L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	608							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567																																						uc001xky.3																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(1822-1824)ctG>ctC		Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.							52	47	49					14																	69707775		2203	4300	6503	SO:0001819	synonymous_variant	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69707775G>C	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1824G>C	14.37:g.69707775G>C			Somatic				EXD2_uc001xkt.3_Silent_p.L483L|EXD2_uc001xkv.3_Silent_p.L608L|EXD2_uc001xkw.3_Silent_p.L483L|EXD2_uc001xku.3_Silent_p.L353L|EXD2_uc001xkx.3_Silent_p.L483L|EXD2_uc010aqt.3_Silent_p.L608L|EXD2_uc010tte.2_Silent_p.L608L	p.L608L	NM_001193360	NP_060669	WXS	Illumina GAIIx	Phase_I	Q9NVH0	EXD2_HUMAN			9	2070	+			483					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	c.1824G>C	CCDS53902.1																																																																																				0.567	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			3	61	0	0	0	1	0	3	61					C	69707775	G	C	69707775	2	2	371	1	0	0	0	0	0	0	0	1	5298	1306	46	4		4	EXD2	14	69707775	Silent	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		69707775	37641765	21	6340											
SLCO3A1	28232	broad.mit.edu	37	15	92706034	92706034	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:92706034G>A	ENST00000318445.6	+	10	2016	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C601Y	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	601					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GACTCCACCTGCCTGTTCTGG	0.572																																						uc002bqx.2																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1801-1803)tGc>tAc		Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.							72	58	63					15																	92706034		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706034G>A	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1802G>A	15.37:g.92706034G>A	ENSP00000320634:p.Cys601Tyr		Somatic				SLCO3A1_uc002bqy.2_Missense_Mutation_p.C601Y|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C543Y	p.C601Y	NM_013272	NP_037404	WXS	Illumina GAIIx	Phase_I	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		9	2003	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		601					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1802G>A	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862017	0.71949	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.78481	-1.18;-1.18	5.65	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	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	0.999;0.998;1.0	D	0.94278	0.7517	10	0.87932	D	0	.	16.7137	0.85392	0.0:0.1293:0.8707:0.0	.	543;601;601	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	Y	601;601;320	ENSP00000320634:C601Y;ENSP00000387846:C601Y	ENSP00000320634:C601Y	C	+	2	0	SLCO3A1	90507038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.195000	0.94971	1.366000	0.46076	0.655000	0.94253	TGC		0.572	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		4	90	0	0	0	1	0	4	90					A	92706034	G	A	92706034	3	1	371	1	0	0	0	0	1	0	0	0	14728	1319	46	2	1840	2	SLCO3A1	15	92706034	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		92706034	9825358	22	6341											
PHLPP2	23035	broad.mit.edu	37	16	71683236	71683236	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:71683236T>C	ENST00000568954.1	-	19	3907	c.3529A>G	c.(3529-3531)Agg>Ggg	p.R1177G	PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1177G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1212G|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R1110G			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1177					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGATCCCTCCCCCTGCAG	0.542																																						uc002fax.3																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3529-3531)Agg>Ggg		Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							74	70	71					16																	71683236		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683236T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3529A>G	16.37:g.71683236T>C	ENSP00000457991:p.Arg1177Gly		Somatic				PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.R1110G|PHLPP2_uc021tkv.1_5'Flank	p.R1177G	NM_015020	NP_055835	WXS	Illumina GAIIx	Phase_I	Q6ZVD8	PHLP2_HUMAN			17	3535	-			1177					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.3529A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	3.552	-0.091485	0.07053	.	.	ENSG00000040199	ENST00000356272;ENST00000393524	T;T	0.46819	1.39;0.86	6.03	1.01	0.19927	.	0.269566	0.40222	N	0.001158	T	0.36358	0.0964	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.31668	-0.9935	10	0.72032	D	0.01	-4.2487	8.8001	0.34903	0.0:0.0637:0.3629:0.5733	.	1110;1177	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	G	1177;1110	ENSP00000348611:R1177G;ENSP00000377159:R1110G	ENSP00000348611:R1177G	R	-	1	2	PHLPP2	70240737	0.010000	0.17322	0.012000	0.15200	0.090000	0.18270	0.258000	0.18387	-0.105000	0.12132	-0.291000	0.09656	AGG		0.542	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	108	0	0	0	1	0	3	108					C	71683236	T	C	71683236	3	2	371	1	0	0	0	0	1	0	0	0	11855	1550	54	3	446	3	PHLPP2	16	71683236	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		71683236	18671517	23	6342											
SREBF1	6720	broad.mit.edu	37	17	17721595	17721595	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:17721595G>A	ENST00000261646.5	-	6	1346	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	SREBF1_ENST00000338854.5_Missense_Mutation_p.R388C|SREBF1_ENST00000435530.2_Missense_Mutation_p.R388C|SREBF1_ENST00000355815.4_Missense_Mutation_p.R418C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R134C|SREBF1_ENST00000583732.1_5'Flank	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	388	Interaction with LMNA. {ECO:0000250}.|Leucine-zipper.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ACAGCAGTGCGCAGACTTAGG	0.542																																						uc002grt.2																			0		p.L417L(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1252-1254)Cgc>Tgc		Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 1, mRNA.							134	109	118					17																	17721595		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17721595G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1162C>T	17.37:g.17721595G>A	ENSP00000261646:p.Arg388Cys		Somatic				SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.R134C|SREBF1_uc002grs.2_Missense_Mutation_p.R364C|SREBF1_uc002gru.2_Missense_Mutation_p.R388C|SREBF1_uc010cpp.1_Missense_Mutation_p.R364C|SREBF1_uc010cpq.1_Missense_Mutation_p.R388C	p.R418C	NM_001005291	NP_001005291	WXS	Illumina GAIIx	Phase_I	P36956	SRBP1_HUMAN			6	1446	-			388			Interaction with LMNA (By similarity).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1252C>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.725971|4.725971	0.89298|0.89298	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000418712;ENST00000423161;ENST00000435530	.|T;T;T;T;T	.|0.79141	.|0.47;0.48;0.48;0.92;-1.24	5.13|5.13	4.1|4.1	0.47936|0.47936	.|Helix-loop-helix DNA-binding (2);	.|0.066648	.|0.64402	.|D	.|0.000005	D|D	0.82692|0.82692	0.5092|0.5092	L|L	0.50333|0.50333	1.59|1.59	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	.|0.72338	.|0.977;0.96;0.912;0.959	D|D	0.83619|0.83619	0.0138|0.0138	5|10	.|0.87932	.|D	.|0	-19.4068|-19.4068	10.314|10.314	0.43725|0.43725	0.0:0.0:0.5691:0.4309|0.0:0.0:0.5691:0.4309	.|.	.|388;364;388;418	.|B0I4X3;B0I4X4;P36956;P36956-4	.|.;.;SRBP1_HUMAN;.	V|C	395|388;418;388;134;225;314;388	.|ENSP00000345822:R388C;ENSP00000348069:R418C;ENSP00000261646:R388C;ENSP00000379106:R134C;ENSP00000413389:R388C	.|ENSP00000261646:R388C	A|R	-|-	2|1	0|0	SREBF1|SREBF1	17662320|17662320	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.946000|0.946000	0.59487|0.59487	5.568000|5.568000	0.67385|0.67385	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.542	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		4	121	0	0	0	1	0	4	121					A	17721595	G	A	17721595	3	1	371	1	0	0	0	0	1	0	0	0	15140	1087	38	1	2337	1	SREBF1	17	17721595	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		17721595	63473615	24	6343											
RAB5C	5878	broad.mit.edu	37	17	40282394	40282394	+	Missense_Mutation	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:40282394T>G	ENST00000346213.4	-	2	339	c.127A>C	c.(127-129)Aag>Cag	p.K43Q	RAB5C_ENST00000547517.1_Missense_Mutation_p.K76Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K43Q|RAB5C_ENST00000393860.3_Missense_Mutation_p.K43Q	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	43					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AACTGTCCCTTGACAAAGCGG	0.547																																						uc010cxx.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(226-228)Aag>Cag		Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.							98	83	88					17																	40282394		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282394T>G	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"RAB, member RAS oncogene"	9785	protein-coding gene	gene with protein product	"RAB, member of RAS oncogene family-like", "RAB5C, member of RAS oncogene family"	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.127A>C	17.37:g.40282394T>G	ENSP00000345689:p.Lys43Gln		Somatic				RAB5C_uc002hyz.3_Missense_Mutation_p.K43Q|RAB5C_uc002hza.3_Missense_Mutation_p.K43Q	p.K76Q	NM_001252039	NP_001238968	WXS	Illumina GAIIx	Phase_I	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	2	583	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	43					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.226A>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827569	0.71143	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	N	0.03983	-0.305	0.80722	D	1	P;D	0.59357	0.941;0.985	P;D	0.69824	0.807;0.966	T	0.81398	-0.0951	10	0.62326	D	0.03	-24.8243	14.6261	0.68621	0.0:0.0:0.0:1.0	.	76;43	F8W1H5;P51148	.;RAB5C_HUMAN	Q	43;43;76;43;43;43	ENSP00000345689:K43Q;ENSP00000377440:K43Q;ENSP00000447053:K76Q;ENSP00000449612:K43Q;ENSP00000449777:K43Q;ENSP00000448314:K43Q	ENSP00000345689:K43Q	K	-	1	0	RAB5C	37535920	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.868000	0.87116	2.039000	0.60335	0.383000	0.25322	AAG		0.547	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		23	94	0	0	0	1	0	23	94					G	40282394	T	G	40282394	3	3	371	1	0	0	0	0	1	0	0	0	12950	1821	63	5	543	5	RAB5C	17	40282394	Missense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08	22560799	40282394	40912816	25	6344											
FMNL1	752	broad.mit.edu	37	17	43318854	43318854	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:43318854G>A	ENST00000331495.3	+	14	1774	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.V58M|FMNL1_ENST00000328118.3_Missense_Mutation_p.V480M	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	480	Pro-rich.				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						GGAGCTGAAGGTGGAGGAGCT	0.682																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.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.(1438-1440)Gtg>Atg		Homo sapiens formin-like 1 (FMNL1), mRNA.							13	8	10					17																	43318854		2093	4123	6216	SO:0001583	missense	752				actin cytoskeleton organization		Rho GTPase binding|actin binding	g.chr17:43318854G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1438G>A	17.37:g.43318854G>A	ENSP00000329219:p.Val480Met		Somatic				FMNL1_uc002iiq.3_Missense_Mutation_p.V58M|FMNL1_uc010dag.3_5'Flank|FMNL1_uc021tyj.1_5'Flank	p.V480M	NM_005892	NP_005883	WXS	Illumina GAIIx	Phase_I	O95466	FMNL_HUMAN			13	1638	+			480			Pro-rich.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.1438G>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892971	0.52121	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.80033	-1.33;-1.33	4.45	0.94	0.19513	.	0.416849	0.23330	N	0.049356	T	0.62368	0.2422	L	0.34521	1.04	0.33355	D	0.571547	B	0.29716	0.255	B	0.28305	0.088	T	0.56288	-0.8004	10	0.23891	T	0.37	.	2.2943	0.04146	0.1113:0.3288:0.3669:0.193	.	480	O95466	FMNL_HUMAN	M	480;480;198	ENSP00000327442:V480M;ENSP00000329219:V480M	ENSP00000327442:V480M	V	+	1	0	FMNL1	40674637	0.826000	0.29277	1.000000	0.80357	0.887000	0.51463	0.000000	0.12993	0.822000	0.34565	0.407000	0.27541	GTG		0.682	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		3	4	0	0	0	1	0	3	4					A	43318854	G	A	43318854	3	1	371	1	0	0	0	0	1	0	0	0	5951	1261	44	2	1492	2	FMNL1	17	43318854	Missense_Mutation	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08	3036460	43318854	37876356	26	6345											
SIGLEC6	946	broad.mit.edu	37	19	52023341	52023341	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr19:52023341T>A	ENST00000425629.3	-	8	1511	c.1357A>T	c.(1357-1359)Aag>Tag	p.K453*	SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000346477.3_Nonsense_Mutation_p.K437*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.K401*|SIGLEC6_ENST00000474054.1_5'UTR	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	453					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATTCCTCACTTGTGTATCTTG	0.478																																						uc002pwy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1357-1359)Aag>Tag		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.							122	119	120					19																	52023341		1968	4144	6112	SO:0001587	stop_gained	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023341T>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1357A>T	19.37:g.52023341T>A	ENSP00000401502:p.Lys453*		Somatic				SIGLEC6_uc002pwz.3_Nonsense_Mutation_p.K437*|SIGLEC6_uc010ydb.2_Nonsense_Mutation_p.K401*|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	p.K453*	NM_001245	NP_001236	WXS	Illumina GAIIx	Phase_I	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1565	-		all_neural(266;0.0199)	453					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Nonsense_Mutation	SNP	ENST00000425629.3	37	c.1357A>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	17.90	3.501032	0.64298	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	.	.	.	2.45	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4434	0.11586	0.0:0.1683:0.0:0.8317	.	.	.	.	X	426;437;453;401	.	ENSP00000344064:K426X	K	-	1	0	SIGLEC6	56715153	0.005000	0.15991	0.007000	0.13788	0.065000	0.16274	-0.560000	0.05964	0.337000	0.23665	0.496000	0.49642	AAG		0.478	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		8	114	0	0	0	1	0	8	114					A	52023341	T	A	52023341	4	1	371	1	0	0	0	0	0	1	0	0	14312	1821	63	5	8	5	SIGLEC6	19	52023341	Nonsense_Mutation	SNP	T	TCGA-FY-A3R9-01A-11D-A21Z-08		52023341	7105642	27	6346											
FHL1	2273	broad.mit.edu	37	X	135288575	135288575	+	5'UTR	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:135288575G>T	ENST00000345434.3	+	0	65				FHL1_ENST00000370676.3_Missense_Mutation_p.S11I|FHL1_ENST00000394153.2_5'UTR|FHL1_ENST00000394155.2_5'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.S24I|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000370683.1_Missense_Mutation_p.S11I			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCTCCAGCTACAAGGTG	0.592																																						uc011mwa.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(70-72)aGc>aTc		Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 5, mRNA.							106	100	102					X																	135288575		2203	4300	6503	SO:0001623	5_prime_UTR_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288575G>T	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.-17G>T	X.37:g.135288575G>T			Somatic				FHL1_uc010nrz.2_5'UTR|FHL1_uc004ezq.2_5'UTR|FHL1_uc004ezo.3_5'UTR|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_5'UTR|FHL1_uc011mvy.1_5'UTR|FHL1_uc004ezn.2_5'UTR|FHL1_uc022ceu.1_5'UTR|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.S11I|FHL1_uc004ezr.2_5'Flank	p.S24I	NM_001159701	NP_001153173	WXS	Illumina GAIIx	Phase_I	Q13642	FHL1_HUMAN			1	120	+	Acute lymphoblastic leukemia(192;0.000127)		0					B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.71G>T	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564826	0.45694	.	.	ENSG00000022267	ENST00000456218;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704	T;T;T	0.62232	0.04;0.08;0.24	5.73	4.81	0.61882	.	.	.	.	.	T	0.49115	0.1538	L	0.45352	1.415	0.58432	D	0.999991	B;B	0.18310	0.027;0.007	B;B	0.17722	0.019;0.003	T	0.38156	-0.9674	9	0.13853	T	0.58	.	8.8522	0.35206	0.0799:0.1471:0.773:0.0	.	24;11	B7Z793;B7Z5T4	.;.	I	35;24;11;11;11	ENSP00000437673:S24I;ENSP00000359717:S11I;ENSP00000359710:S11I	ENSP00000359710:S11I	S	+	2	0	FHL1	135116241	1.000000	0.71417	0.777000	0.31699	0.939000	0.58152	3.558000	0.53749	2.396000	0.81511	0.600000	0.82982	AGC		0.592	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		14	251	0	0	0	1	0	14	251					T	135288575	G	T	135288575	1	4	371	0	1	0	0	0	0	0	0	0	5878	971	34	4		4	FHL1	23	135288575	5'UTR	SNP	G	TCGA-FY-A3R9-01A-11D-A21Z-08		135288575	19981985	28	6347											
NEUROD6	63974	broad.mit.edu	37	7	31378167	31378167	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr7:31378167G>A	ENST00000297142.3	-	2	1038	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	239					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGATTCATACGCACTGCAATA	0.483																																						uc003tch.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(715-717)gCg>gTg		Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.							86	79	81					7																	31378167		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378167G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.716C>T	7.37:g.31378167G>A	ENSP00000297142:p.Ala239Val		Somatic				NEUROD6_uc022abi.1_Missense_Mutation_p.A239V	p.A239V	NM_022728	NP_073565	WXS	Illumina GAIIx	Phase_I	Q96NK8	NDF6_HUMAN			1	1069	-			239					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.716C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292531	0.23564	.	.	ENSG00000164600	ENST00000297142	T	0.64618	-0.11	5.32	4.43	0.53597	Neurogenic differentiation factor, domain of unknown function (1);	0.106309	0.64402	D	0.000006	T	0.51702	0.1690	L	0.28556	0.865	0.45056	D	0.99807	B	0.18610	0.029	B	0.15870	0.014	T	0.46275	-0.9203	10	0.44086	T	0.13	-21.3163	15.9382	0.79734	0.0:0.1355:0.8645:0.0	.	239	Q96NK8	NDF6_HUMAN	V	239	ENSP00000297142:A239V	ENSP00000297142:A239V	A	-	2	0	NEUROD6	31344692	1.000000	0.71417	0.949000	0.38748	0.792000	0.44763	7.541000	0.82084	1.219000	0.43474	-0.181000	0.13052	GCG		0.483	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		4	115	0	0	0	1	0	4	115					A	31378167	G	A	31378167	3	1	372	1	0	0	0	0	1	0	0	0	10351	1087	38	1	301	1	NEUROD6	7	31378167	Missense_Mutation	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08		31378167	127760496	1	6348											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		68	83	0	0	0	1	0	68	83					T	140453136	A	T	140453136	3	4	372	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A3RA-01A-11D-A21Z-08	109074969	140453136	18685527	2	6349											
SBNO1	55206	broad.mit.edu	37	12	123805029	123805029	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr12:123805029T>C	ENST00000602398.1	-	19	2744	c.2617A>G	c.(2617-2619)Acc>Gcc	p.T873A	SBNO1_ENST00000267176.4_Missense_Mutation_p.T872A|SBNO1_ENST00000420886.2_Missense_Mutation_p.T873A|SBNO1_ENST00000602750.1_Missense_Mutation_p.T872A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	873					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCATCCAGGGTATTAGGGGGG	0.453																																						uc010tap.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(2617-2619)Acc>Gcc		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							124	124	124					12																	123805029		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123805029T>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2617A>G	12.37:g.123805029T>C	ENSP00000473665:p.Thr873Ala		Somatic				SBNO1_uc010tao.2_Missense_Mutation_p.T872A|SBNO1_uc010taq.2_Intron	p.T873A	NM_001167856	NP_001161328	WXS	Illumina GAIIx	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	17	2617	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		873					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.2617A>G	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769969	0.90020	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32023	1.47;1.47	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	L	0.31476	0.935	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.80764	0.994;0.99	T	0.13255	-1.0516	10	0.12103	T	0.63	-19.7558	16.0098	0.80391	0.0:0.0:0.0:1.0	.	873;872	A3KN83;A3KN83-2	SBNO1_HUMAN;.	A	873;872	ENSP00000387361:T873A;ENSP00000267176:T872A	ENSP00000267176:T872A	T	-	1	0	SBNO1	122370982	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.959000	0.87885	2.175000	0.68902	0.533000	0.62120	ACC		0.453	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	146	0	0	0	1	0	6	146					C	123805029	T	C	123805029	3	2	372	1	0	0	0	0	1	0	0	0	13862	1638	57	3	1620	3	SBNO1	12	123805029	Missense_Mutation	SNP	T	TCGA-FY-A3RA-01A-11D-A21Z-08		123805029	10046866	3	6350											
MYH6	4624	broad.mit.edu	37	14	23855756	23855756	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chr14:23855756C>T	ENST00000356287.3	-	32	4756	c.4727G>A	c.(4726-4728)cGg>cAg	p.R1576Q	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1576Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1576					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)		TGCCAGCTTCCGCTCGATCTC	0.647																																						uc001wjv.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.(4726-4728)cGg>cAg		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.							158	166	163					14																	23855756		2203	4300	6503	SO:0001583	missense	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	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855756C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4727G>A	14.37:g.23855756C>T	ENSP00000348634:p.Arg1576Gln		Somatic					p.R1576Q	NM_002471	NP_002462	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	32	4798	-	all_cancers(95;2.54e-05)		1576					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4727G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.816818	0.90790	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.81996	-1.56;-1.56	4.26	3.36	0.38483	Myosin tail (1);	.	.	.	.	D	0.90837	0.7122	M	0.85945	2.785	0.41767	D	0.989741	D	0.89917	1.0	D	0.91635	0.999	D	0.91566	0.5268	9	0.87932	D	0	.	12.0269	0.53375	0.0:0.9148:0.0:0.0852	.	1576	P13533	MYH6_HUMAN	Q	1576	ENSP00000386041:R1576Q;ENSP00000348634:R1576Q	ENSP00000348634:R1576Q	R	-	2	0	MYH6	22925596	0.336000	0.24757	1.000000	0.80357	0.996000	0.88848	4.896000	0.63222	0.886000	0.36113	0.561000	0.74099	CGG		0.647	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			133	212	0	0	0	1	0	133	212					T	23855756	C	T	23855756	3	4	372	1	0	0	0	0	1	0	0	0	10038	652	23	1	1120	1	MYH6	14	23855756	Missense_Mutation	SNP	C	TCGA-FY-A3RA-01A-11D-A21Z-08		23855756	83493784	4	6351											
ASB12	142689	broad.mit.edu	37	X	63445422	63445422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FY-A3RA-01A-11D-A21Z-08	TCGA-FY-A3RA-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7fad7a4-5d3f-498e-b059-31b2a9317507	ca01a0ac-d4f6-4e1e-9620-7f0b668609d7	g.chrX:63445422G>A	ENST00000396130.2	-	1	81	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	MTMR8_ENST00000453546.1_Nonsense_Mutation_p.Q412*|ASB12_ENST00000362002.2_Nonsense_Mutation_p.Q37*			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	28					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TTGAGAGCCTGCTTCTCCTCT	0.507																																						uc011mou.2																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1234-1236)Cag>Tag		Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.							82	61	68					X																	63445422		2203	4300	6503	SO:0001587	stop_gained	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445422G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.82C>T	X.37:g.63445422G>A	ENSP00000379435:p.Gln28*		Somatic				MTMR8_uc004dvq.2_Nonsense_Mutation_p.Q28*|MTMR8_uc004dvr.2_Nonsense_Mutation_p.Q37*	p.Q412*	NM_017677	NP_060147	WXS	Illumina GAIIx	Phase_I	Q96EF0	MTMR8_HUMAN			9	1324	-			0			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Nonsense_Mutation	SNP	ENST00000396130.2	37	c.1234C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.213745	0.97380	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	.	.	.	4.36	4.36	0.52297	.	0.470871	0.20481	N	0.091493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-35.0835	11.5846	0.50910	0.0:0.1776:0.8224:0.0	.	.	.	.	X	37;28;37;412	.	ENSP00000354626:Q37X	Q	-	1	0	ASB12;MTMR8	63362147	1.000000	0.71417	0.984000	0.44739	0.801000	0.45260	3.761000	0.55242	2.156000	0.67533	0.529000	0.55759	CAG		0.507	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	31	0	0	0	1	0	3	31					A	63445422	G	A	63445422	4	1	372	1	0	0	0	0	0	1	0	0	1016	1328	46	2	855	2	ASB12	23	63445422	Nonsense_Mutation	SNP	G	TCGA-FY-A3RA-01A-11D-A21Z-08		63445422	91825138	5	6352											
FBXO44	93611	broad.mit.edu	37	1	11718892	11718892	+	Silent	SNP	G	G	A	rs367623463		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:11718892G>A	ENST00000251547.5	+	5	670	c.588G>A	c.(586-588)gcG>gcA	p.A196A	FBXO44_ENST00000376762.4_Missense_Mutation_p.D155N|FBXO44_ENST00000376760.1_Missense_Mutation_p.D155N|FBXO44_ENST00000376768.1_Missense_Mutation_p.D187N|FBXO44_ENST00000376770.1_Silent_p.A196A|FBXO44_ENST00000251546.4_Missense_Mutation_p.D155N	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	196	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACCCGGCGACCATCCAGC	0.672																																						uc010oar.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(559-561)Gac>Aac		Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.		G	,,ASN/ASP,ASN/ASP	0,4406		0,0,2203	46	48	47		588,588,463,463	-5.4	0.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,missense,missense	FBXO44	NM_001014765.1,NM_033182.5,NM_183412.2,NM_183413.2	,,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	196/256,196/256,155/225,155/225	11718892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718892G>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"F-boxes /  "other""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.588G>A	1.37:g.11718892G>A			Somatic				FBXO44_uc001ask.3_Missense_Mutation_p.D155N|FBXO44_uc010oas.2_Silent_p.A56A|FBXO44_uc001asm.3_Silent_p.A196A|FBXO44_uc001asl.3_Silent_p.A196A|FBXO44_uc001asn.3_Missense_Mutation_p.D155N	p.D187N	NM_183413	NP_904320	WXS	Illumina GAIIx	Phase_I	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	685	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.559G>A	CCDS132.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011385	0.00422	0.0	1.16E-4	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T;T	0.44083	0.93;1.24;1.07;0.93;0.93	5.01	-5.38	0.02673	.	0.503034	0.24363	N	0.039179	T	0.18257	0.0438	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24870	-1.0148	9	0.15066	T	0.55	-25.3854	9.026	0.36230	0.1062:0.1303:0.6723:0.0912	.	187;155	B7Z1P2;Q9H4M3-2	.;.	N	155;155;187;155;155	ENSP00000251546:D155N;ENSP00000389820:D155N;ENSP00000365959:D187N;ENSP00000365953:D155N;ENSP00000365951:D155N	ENSP00000251546:D155N	D	+	1	0	FBXO44	11641479	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.892000	0.04131	-0.852000	0.04141	-1.343000	0.01246	GAC		0.672	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		53	42	0	0	0	1	0	53	42					A	11718892	G	A	11718892	2	1	373	1	0	0	0	0	0	0	0	1	5753	1058	37	1		1	FBXO44	1	11718892	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		11718892	237531729	1	6353											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		81	96	0	0	0	1	0	81	96					C	115256529	T	C	115256529	3	2	373	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08	103537637	115256529	133994092	2	6354											
PHGDH	26227	broad.mit.edu	37	1	120286533	120286533	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:120286533G>T	ENST00000369409.4	+	12	1608	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	PHGDH_ENST00000369407.3_Missense_Mutation_p.R457L|PHGDH_ENST00000482968.1_3'UTR	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	491					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GCAGGCGTGCGGCTGCTGTCC	0.582											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ehz.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(1471-1473)cGg>cTg		Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	NADH(DB00157)						97	98	98					1																	120286533		2203	4300	6503	SO:0001583	missense	26227				L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity	g.chr1:120286533G>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1472G>T	1.37:g.120286533G>T	ENSP00000358417:p.Arg491Leu		Somatic	OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1502	PHGDH_uc009whm.3_Missense_Mutation_p.R389L|PHGDH_uc001eib.3_Missense_Mutation_p.R457L	p.R491L	NM_006623	NP_006614	WXS	Illumina GAIIx	Phase_I	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	11	1699	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	491					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1472G>T	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.102722	0.56183	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.90844	-2.74;-2.74	5.95	4.84	0.62591	.	0.237733	0.43579	D	0.000555	T	0.66858	0.2832	N	0.08118	0	0.25694	N	0.98566	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.003	T	0.61486	-0.7053	10	0.87932	D	0	-2.7389	8.2191	0.31530	0.9084:0.0:0.0916:0.0	.	457;457;364;491	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	L	491;364;457	ENSP00000358417:R491L;ENSP00000358415:R457L	ENSP00000358415:R457L	R	+	2	0	PHGDH	120088056	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.675000	0.54605	1.087000	0.41251	-0.302000	0.09304	CGG		0.582	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		12	128	0	0	0	1	0	12	128					T	120286533	G	T	120286533	3	4	373	1	0	0	0	0	1	0	0	0	11841	1116	39	4	1518	4	PHGDH	1	120286533	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	5030004	120286533	128964088	3	6355											
SUSD4	55061	broad.mit.edu	37	1	223441914	223441914	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:223441914G>A	ENST00000343846.3	-	3	1098	c.465C>T	c.(463-465)taC>taT	p.Y155Y	SUSD4_ENST00000344029.6_Silent_p.Y155Y|SUSD4_ENST00000366878.4_Silent_p.Y155Y|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000494793.2_Silent_p.Y155Y|SUSD4_ENST00000484758.2_Silent_p.Y84Y|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	155	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTAGGTCGGGGTACCGGATCT	0.448																																						uc001hnx.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(463-465)taC>taT		Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.							225	190	202					1																	223441914		2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223441914G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.465C>T	1.37:g.223441914G>A			Somatic				SUSD4_uc001hny.4_Silent_p.Y155Y|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.Y155Y|SUSD4_uc010pux.1_Silent_p.Y84Y	p.Y155Y	NM_017982	NP_060452	WXS	Illumina GAIIx	Phase_I	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	1099	-			155			Sushi 2.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.465C>T	CCDS41471.1																																																																																				0.448	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	76	0	0	0	1	0	3	76					A	223441914	G	A	223441914	2	1	373	1	0	0	0	0	0	0	0	1	15407	1256	44	2		2	SUSD4	1	223441914	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	103155381	223441914	25808707	4	6356											
CHRM3	1131	broad.mit.edu	37	1	240071606	240071606	+	Silent	SNP	C	C	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr1:240071606C>A	ENST00000255380.4	+	5	1634	c.855C>A	c.(853-855)ggC>ggA	p.G285G		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	285					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCCACGGGCAGTTCTCGAA	0.517																																						uc001hyp.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(853-855)ggC>ggA		Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						39	44	42					1																	240071606		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071606C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.855C>A	1.37:g.240071606C>A			Somatic				CHRM3_uc021plc.1_Silent_p.G285G	p.G285G	NM_000740	NP_000731	WXS	Illumina GAIIx	Phase_I	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	1634	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	285					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.855C>A	CCDS1616.1																																																																																				0.517	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		16	21	0	0	0	1	0	16	21					A	240071606	C	A	240071606	2	1	373	1	0	0	0	0	0	0	0	1	3378	697	25	4		4	CHRM3	1	240071606	Silent	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	16629692	240071606	9179015	5	6357											
CNGA3	1261	broad.mit.edu	37	2	98999896	98999896	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:98999896G>A	ENST00000272602.2	+	4	480	c.441G>A	c.(439-441)acG>acA	p.T147T	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000393504.1_Silent_p.T147T|CNGA3_ENST00000409937.1_Silent_p.T151T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	147					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAACAACACGGAGGAGGAGT	0.587																																						uc010fij.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(451-453)acG>acA		Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.							123	106	112					2																	98999896		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999896G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.441G>A	2.37:g.98999896G>A			Somatic				CNGA3_uc002syt.3_Silent_p.T147T|CNGA3_uc002syu.3_Intron	p.T151T			WXS	Illumina GAIIx	Phase_I	Q16281	CNGA3_HUMAN			4	594	+			147					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.453G>A	CCDS2034.1																																																																																				0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		15	81	0	0	0	1	0	15	81					A	98999896	G	A	98999896	2	1	373	1	0	0	0	0	0	0	0	1	3598	1103	39	1		1	CNGA3	2	98999896	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		98999896	144199477	6	6358											
CCDC108	255101	broad.mit.edu	37	2	219890815	219890815	+	Missense_Mutation	SNP	G	G	A	rs141456868		TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:219890815G>A	ENST00000341552.5	-	14	2361	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	CCDC108_ENST00000453220.1_Missense_Mutation_p.R760W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R760W	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	760						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGTGCCCGCACCGTCAGG	0.592																																						uc002vjl.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2278-2280)Cgg>Tgg		Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.							79	69	72					2																	219890815		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219890815G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2278C>T	2.37:g.219890815G>A	ENSP00000340776:p.Arg760Trp		Somatic					p.R760W	NM_194302	NP_919278	WXS	Illumina GAIIx	Phase_I	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2362	-		Renal(207;0.0915)	760					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2278C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624641	0.46840	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.06608	3.28;3.28;3.28	4.87	2.88	0.33553	.	0.698236	0.11855	N	0.522902	T	0.22513	0.0543	M	0.67953	2.075	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.06215	-1.0839	10	0.66056	D	0.02	-7.944	14.3938	0.66999	0.0:0.0:0.681:0.319	.	760	Q6ZU64	CC108_HUMAN	W	760	ENSP00000340776:R760W;ENSP00000413377:R760W;ENSP00000409117:R760W	ENSP00000340776:R760W	R	-	1	2	CCDC108	219599059	0.906000	0.30813	0.046000	0.18839	0.673000	0.39480	1.657000	0.37366	1.257000	0.44085	0.561000	0.74099	CGG		0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	89	0	0	0	1	0	4	89					A	219890815	G	A	219890815	3	1	373	1	0	0	0	0	1	0	0	0	2743	1086	38	1	3587	1	CCDC108	2	219890815	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	120890919	219890815	23308558	7	6359											
COL6A3	1293	broad.mit.edu	37	2	238280890	238280890	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr2:238280890C>T	ENST00000295550.4	-	9	4222	c.3770G>A	c.(3769-3771)aGg>aAg	p.R1257K	COL6A3_ENST00000392003.2_Missense_Mutation_p.R850K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R650K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1051K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1051K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1051K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1057K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1056K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1257	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCAACCAGCCTCTCTATGAG	0.582																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3769-3771)aGg>aAg		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							54	51	52					2																	238280890		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280890C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3770G>A	2.37:g.238280890C>T	ENSP00000295550:p.Arg1257Lys		Somatic				COL6A3_uc002vwo.2_Missense_Mutation_p.R1051K|COL6A3_uc010znj.1_Missense_Mutation_p.R650K|COL6A3_uc002vwq.3_Missense_Mutation_p.R1051K|COL6A3_uc002vwr.3_Missense_Mutation_p.R850K	p.R1257K	NM_004369	NP_004360	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	4055	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1257			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3770G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474533	0.43942	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.58	3.79	0.43588	von Willebrand factor, type A (3);	0.308551	0.27609	N	0.018612	T	0.23410	0.0566	N	0.16016	0.355	0.44454	D	0.997388	B;B;B;P;B	0.40302	0.41;0.081;0.081;0.712;0.007	P;B;B;B;B	0.44447	0.45;0.256;0.17;0.279;0.007	T	0.02868	-1.1100	10	0.12766	T	0.61	.	9.4555	0.38751	0.0:0.7833:0.0:0.2167	.	650;850;1051;1051;1257	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	K	1257;1056;1051;650;1051;1057;1051;850	ENSP00000295550:R1257K;ENSP00000315609:R1056K;ENSP00000315873:R1051K;ENSP00000418285:R650K;ENSP00000386844:R1051K;ENSP00000295546:R1057K;ENSP00000375861:R1051K;ENSP00000375860:R850K	ENSP00000295550:R1257K	R	-	2	0	COL6A3	237945629	0.052000	0.20516	0.997000	0.53966	0.698000	0.40448	0.832000	0.27490	0.716000	0.32124	0.655000	0.94253	AGG		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	52	0	0	0	1	0	5	52					T	238280890	C	T	238280890	3	4	373	1	0	0	0	0	1	0	0	0	3701	681	24	2	5954	2	COL6A3	2	238280890	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	18390075	238280890	4918483	8	6360											
WDFY3	23001	broad.mit.edu	37	4	85639709	85639709	+	Silent	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr4:85639709G>A	ENST00000295888.4	-	48	8027	c.7620C>T	c.(7618-7620)taC>taT	p.Y2540Y	WDFY3_ENST00000322366.6_Silent_p.Y2523Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2540	Sufficient for translocalization to p62 bodies/ALIS.				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)		GAGCACAGCGGTACATGTGTT	0.408																																						uc003hpd.3																			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.(7618-7620)taC>taT		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							73	76	75					4																	85639709		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85639709G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7620C>T	4.37:g.85639709G>A			Somatic				WDFY3_uc003hpe.1_Silent_p.Y151Y	p.Y2540Y	NM_014991	NP_055806	WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	47	8028	-		Hepatocellular(203;0.114)	2540					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.7620C>T	CCDS3609.1																																																																																				0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		3	56	0	0	0	1	0	3	56					A	85639709	G	A	85639709	2	1	373	1	0	0	0	0	0	0	0	1	17267	1256	44	2		2	WDFY3	4	85639709	Silent	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		85639709	105514567	9	6361											
KIAA0947	23379	broad.mit.edu	37	5	5462371	5462371	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:5462371C>T	ENST00000296564.7	+	13	3146	c.2924C>T	c.(2923-2925)gCt>gTt	p.A975V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		975					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGAGAGAAGCTGCAGTGCAG	0.478																																						uc003jdm.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2923-2925)gCt>gTt		Homo sapiens KIAA0947 (KIAA0947), mRNA.							28	30	29					5																	5462371		2026	4217	6243	SO:0001583	missense	23379							g.chr5:5462371C>T																												ENST00000296564.7:c.2924C>T	5.37:g.5462371C>T	ENSP00000296564:p.Ala975Val		Somatic					p.A975V	NM_015325	NP_056140	WXS	Illumina GAIIx	Phase_I	Q9Y2F5	K0947_HUMAN			12	3146	+			975					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.2924C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	c	8.449	0.852603	0.17106	.	.	ENSG00000164151	ENST00000296564	T	0.08720	3.06	4.49	-1.04	0.10068	.	0.711424	0.13093	N	0.414414	T	0.02970	0.0088	N	0.12746	0.255	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.44937	-0.9295	10	0.05721	T	0.95	-3.5062	3.5542	0.07858	0.2528:0.4689:0.0:0.2783	.	975	Q9Y2F5	K0947_HUMAN	V	975	ENSP00000296564:A975V	ENSP00000296564:A975V	A	+	2	0	KIAA0947	5515371	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.023000	0.12456	-0.031000	0.13781	0.461000	0.40582	GCT		0.478	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			9	11	0	0	0	1	0	9	11					T	5462371	C	T	5462371	3	4	373	1	0	0	0	0	1	0	0	0	8202	797	28	2	2974	2	KIAA0947	5	5462371	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08		5462371	175452889	10	6362											
DDX4	54514	broad.mit.edu	37	5	55088550	55088550	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:55088550A>T	ENST00000505374.1	+	17	1476	c.1384A>T	c.(1384-1386)Aag>Tag	p.K462*	DDX4_ENST00000511853.1_Nonsense_Mutation_p.K313*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.K428*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.K442*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.K428*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	462	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGAAATGAAGAAGTTAATTTC	0.368																																						uc003jqg.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1384-1386)Aag>Tag		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.							79	77	78					5																	55088550		2203	4300	6503	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55088550A>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1384A>T	5.37:g.55088550A>T	ENSP00000424838:p.Lys462*		Somatic				DDX4_uc010ivz.3_Nonsense_Mutation_p.K442*|DDX4_uc003jqh.4_Nonsense_Mutation_p.K428*|DDX4_uc003jqj.3_Nonsense_Mutation_p.K313*	p.K462*	NM_024415	NP_077726	WXS	Illumina GAIIx	Phase_I	Q9NQI0	DDX4_HUMAN			16	1483	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	462			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.1384A>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	37	6.272976	0.97431	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	.	.	.	5.39	5.39	0.77823	.	0.057013	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1209	15.705	0.77573	1.0:0.0:0.0:0.0	.	.	.	.	X	428;442;462;442;428;313	.	ENSP00000334167:K428X	K	+	1	0	DDX4	55124307	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.661000	0.74422	2.170000	0.68504	0.459000	0.35465	AAG		0.368	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		31	34	0	0	0	1	0	31	34					T	55088550	A	T	55088550	4	4	373	1	0	0	0	0	0	1	0	0	4360	247	9	5	1487	5	DDX4	5	55088550	Nonsense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08	49626179	55088550	125826710	11	6363											
KIF4B	285643	broad.mit.edu	37	5	154394056	154394056	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:154394056C>T	ENST00000435029.4	+	1	797	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			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)			GTCCCGATCTCATGCCATCTT	0.468																																						uc010jih.1																			0		p.S212S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(637-639)Cat>Tat		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							114	110	112					5																	154394056		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.chr5:154394056C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.637C>T	5.37:g.154394056C>T	ENSP00000387875:p.His213Tyr		Somatic					p.H213Y	NM_001099293	NP_001092763	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	797	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	213			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.637C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.132723	0.56828	.	.	ENSG00000226650	ENST00000435029	D	0.93659	-3.26	1.73	1.73	0.24493	Kinesin, motor domain (5);	.	.	.	.	D	0.97860	0.9297	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96765	0.9564	9	0.87932	D	0	.	9.4402	0.38664	0.0:1.0:0.0:0.0	.	213	Q2VIQ3	KIF4B_HUMAN	Y	213	ENSP00000387875:H213Y	ENSP00000387875:H213Y	H	+	1	0	KIF4B	154374249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.734000	0.55037	1.302000	0.44855	0.655000	0.94253	CAT		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			40	34	0	0	0	1	0	40	34					T	154394056	C	T	154394056	3	4	373	1	0	0	0	0	1	0	0	0	8304	826	29	2	639	2	KIF4B	5	154394056	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	99305506	154394056	26521204	12	6364											
ADAMTS2	9509	broad.mit.edu	37	5	178579222	178579222	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr5:178579222C>T	ENST00000251582.7	-	10	1651	c.1550G>A	c.(1549-1551)tGc>tAc	p.C517Y	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.C517Y	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	517	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGATGGCTGCACCACAGCTG	0.607																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1549-1551)tGc>tAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							79	69	73					5																	178579222		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178579222C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1550G>A	5.37:g.178579222C>T	ENSP00000251582:p.Cys517Tyr		Somatic				ADAMTS2_uc011dgm.2_Missense_Mutation_p.C517Y	p.C517Y	NM_014244	NP_055059	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	9	1652	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	517			Disintegrin.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1550G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630905	0.87660	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.76316	-1.01;-1.01	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000007	D	0.91633	0.7356	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93783	0.7085	10	0.87932	D	0	.	18.1139	0.89545	0.0:1.0:0.0:0.0	.	517;517	O95450-2;O95450	.;ATS2_HUMAN	Y	517	ENSP00000251582:C517Y;ENSP00000274609:C517Y	ENSP00000251582:C517Y	C	-	2	0	ADAMTS2	178511828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.616000	0.83018	2.513000	0.84729	0.556000	0.70494	TGC		0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		15	19	0	0	0	1	0	15	19					T	178579222	C	T	178579222	3	4	373	1	0	0	0	0	1	0	0	0	265	710	25	2	2212	2	ADAMTS2	5	178579222	Missense_Mutation	SNP	C	TCGA-FY-A3W9-01A-11D-A22D-08	24185166	178579222	2336038	13	6365											
C6orf146	222826	broad.mit.edu	37	6	4069773	4069773	+	Silent	SNP	T	T	C			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:4069773T>C	ENST00000274673.3	-	7	1087	c.684A>G	c.(682-684)ccA>ccG	p.P228P	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	228																	TTATTGTTTCTGGCTTCAAGT	0.368																																						uc003mvx.3																			0											c.(682-684)ccA>ccG		Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.							104	109	107					6																	4069773		2203	4300	6503	SO:0001819	synonymous_variant	222826							g.chr6:4069773T>C	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.684A>G	6.37:g.4069773T>C			Somatic				FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Silent_p.P165P	p.P228P	NM_173563	NP_775834	WXS	Illumina GAIIx	Phase_I	Q8IXS0	CF146_HUMAN			6	1090	-			228					Q5JYK1	Silent	SNP	ENST00000274673.3	37	c.684A>G	CCDS4489.1																																																																																				0.368	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		10	99	0	0	0	1	0	10	99					C	4069773	T	C	4069773	2	2	373	1	0	0	0	0	0	0	0	1	2335	1567	55	3		3	C6orf146	6	4069773	Silent	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08		4069773	167045294	14	6366											
CRISP2	7180	broad.mit.edu	37	6	49665595	49665595	+	Missense_Mutation	SNP	A	A	T			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:49665595A>T	ENST00000339139.4	-	8	729	c.493T>A	c.(493-495)Tat>Aat	p.Y165N		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	165	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGCAAACATAGTAGTATTTT	0.328																																						uc003ozm.2																			0		p.Y165C(1)|p.Y164C(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(493-495)Tat>Aat		Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 1, mRNA.							109	112	111					6																	49665595		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49665595A>T	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"cancer/testis antigen 36"	187430	"testis specific protein 1 (probe H4-1 p3-1)"	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.493T>A	6.37:g.49665595A>T	ENSP00000339155:p.Tyr165Asn		Somatic				CRISP2_uc003ozn.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozr.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozo.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozp.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozq.2_Missense_Mutation_p.Y165N|CRISP2_uc003ozl.2_Missense_Mutation_p.Y165N	p.Y165N	NM_003296	NP_003287	WXS	Illumina GAIIx	Phase_I	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		6	692	-	Lung NSC(77;0.0161)		165					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.493T>A	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907713	0.72868	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08193	3.12	4.7	4.7	0.59300	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.062767	0.64402	D	0.000003	T	0.26412	0.0645	M	0.91196	3.185	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.80764	0.993;0.994	T	0.14643	-1.0465	10	0.72032	D	0.01	.	12.4302	0.55569	1.0:0.0:0.0:0.0	.	165;165	Q7Z7B2;P16562	.;CRIS2_HUMAN	N	165	ENSP00000339155:Y165N	ENSP00000211238:Y165N	Y	-	1	0	CRISP2	49773554	1.000000	0.71417	0.919000	0.36401	0.883000	0.51084	5.071000	0.64382	2.105000	0.64084	0.528000	0.53228	TAT		0.328	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		62	92	0	0	0	1	0	62	92					T	49665595	A	T	49665595	3	4	373	1	0	0	0	0	1	0	0	0	3880	420	15	5	250	5	CRISP2	6	49665595	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08	45595822	49665595	121449472	15	6367											
CYB5R4	51167	broad.mit.edu	37	6	84634311	84634311	+	Splice_Site	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:84634311G>A	ENST00000369681.5	+	10	954	c.814G>A	c.(814-816)Ggt>Agt	p.G272S		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	272					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GAAAGATACAGGTATGCTGTG	0.348																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	uc003pkf.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e10+1		Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.							142	141	142					6																	84634311		2203	4300	6503	SO:0001630	splice_region_variant	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	g.chr6:84634311G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"NADPH cytochrome B5 oxidoreductase"	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.814+1G>A	6.37:g.84634311G>A			Somatic					p.G272_splice	NM_016230	NP_057314	WXS	Illumina GAIIx	Phase_I	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	10	946	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	272					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Splice_Site	SNP	ENST00000369681.5	37	c.814_splice	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458563	0.43634	.	.	ENSG00000065615	ENST00000369681	D	0.93426	-3.22	6.05	6.05	0.98169	Riboflavin synthase-like beta-barrel (1);	0.096235	0.64402	D	0.000001	D	0.87063	0.6084	M	0.72894	2.215	0.80722	D	1	P	0.37663	0.604	B	0.38803	0.282	T	0.82989	-0.0183	10	0.09843	T	0.71	.	9.4444	0.38688	0.1484:0.0:0.8516:0.0	.	272	Q7L1T6	NB5R4_HUMAN	S	272	ENSP00000358695:G272S	ENSP00000358695:G272S	G	+	1	0	CYB5R4	84691030	1.000000	0.71417	0.981000	0.43875	0.059000	0.15707	4.127000	0.57944	2.878000	0.98634	0.650000	0.86243	GGT		0.348	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	Missense_Mutation	68	98	0	0	0	1	0	68	98					A	84634311	G	A	84634311	5	1	373	1	0	0	0	0	0	0	1	0	4129	1014	35	2	852	2	CYB5R4	6	84634311	Splice_Site	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	34968716	84634311	86480756	16	6368											
HBS1L	10767	broad.mit.edu	37	6	135287541	135287541	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr6:135287541T>C	ENST00000367837.5	-	17	2175	c.1969A>G	c.(1969-1971)Aaa>Gaa	p.K657E	HBS1L_ENST00000445176.2_Missense_Mutation_p.K381E|HBS1L_ENST00000415177.2_Missense_Mutation_p.K592E|HBS1L_ENST00000527578.1_Missense_Mutation_p.K493E|HBS1L_ENST00000367824.4_Missense_Mutation_p.K493E|HBS1L_ENST00000367826.2_Missense_Mutation_p.K615E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	657					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTAAAGTCTTTATATAGCTCA	0.363																																						uc003qez.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1969-1971)Aaa>Gaa		Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.							144	136	139					6																	135287541		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287541T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1969A>G	6.37:g.135287541T>C	ENSP00000356811:p.Lys657Glu		Somatic				HBS1L_uc003qey.2_Missense_Mutation_p.K493E|HBS1L_uc011ecy.1_Missense_Mutation_p.K381E|HBS1L_uc011ecz.1_Missense_Mutation_p.K493E|HBS1L_uc011eda.1_Missense_Mutation_p.K615E	p.K657E	NM_006620	NP_006611	WXS	Illumina GAIIx	Phase_I	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	16	2176	-	Colorectal(23;0.221)		657					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1969A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067518	0.76301	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.64618	-0.11;-0.07;-0.07;-0.11;-0.07;-0.09;0.95	5.96	5.96	0.96718	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	N	0.25031	0.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.962;0.978	T	0.69124	-0.5228	10	0.72032	D	0.01	-25.1187	16.4277	0.83824	0.0:0.0:0.0:1.0	.	615;657	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	E	657;493;592;615;493;527;381	ENSP00000356811:K657E;ENSP00000436256:K493E;ENSP00000389826:K592E;ENSP00000356800:K615E;ENSP00000356798:K493E;ENSP00000434533:K527E;ENSP00000415305:K381E	ENSP00000356798:K493E	K	-	1	0	HBS1L	135329234	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.470000	0.80973	2.279000	0.76181	0.533000	0.62120	AAA		0.363	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			6	160	0	0	0	1	0	6	160					C	135287541	T	C	135287541	3	2	373	1	0	0	0	0	1	0	0	0	6987	1763	61	3	93	3	HBS1L	6	135287541	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08	50653230	135287541	35827526	17	6369											
ESCO2	157570	broad.mit.edu	37	8	27634109	27634109	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:27634109A>G	ENST00000305188.8	+	3	522	c.284A>G	c.(283-285)aAt>aGt	p.N95S	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	95					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGTACCTCAATCCACTGGAG	0.358									SC Phocomelia syndrome																													uc003xgg.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(283-285)aAt>aGt		Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.							59	58	59					8																	27634109		2203	4300	6503	SO:0001583	missense	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634109A>G	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.284A>G	8.37:g.27634109A>G	ENSP00000306999:p.Asn95Ser		Somatic				ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.N95S	p.N95S	NM_001017420	NP_001017420	WXS	Illumina GAIIx	Phase_I	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	2	367	+		Ovarian(32;0.000953)	95					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.284A>G	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358100	0.61403	.	.	ENSG00000171320	ENST00000523566;ENST00000305188;ENST00000519637	T;T;T	0.68765	0.37;-0.35;0.38	5.63	3.2	0.36748	.	0.088893	0.85682	N	0.000000	T	0.61324	0.2338	M	0.71581	2.175	0.80722	D	1	P;B	0.42203	0.773;0.192	B;B	0.40782	0.34;0.048	T	0.56117	-0.8032	10	0.35671	T	0.21	-17.909	6.0197	0.19623	0.7505:0.1648:0.0847:0.0	.	95;95	E5RFE4;Q56NI9	.;ESCO2_HUMAN	S	95	ENSP00000428435:N95S;ENSP00000306999:N95S;ENSP00000428027:N95S	ENSP00000306999:N95S	N	+	2	0	ESCO2	27690028	0.984000	0.35163	0.999000	0.59377	0.972000	0.66771	0.986000	0.29590	0.480000	0.27534	0.482000	0.46254	AAT		0.358	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		7	44	0	0	0	1	0	7	44					G	27634109	A	G	27634109	3	3	373	1	0	0	0	0	1	0	0	0	5249	101	4	3	290	3	ESCO2	8	27634109	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		27634109	118729913	18	6370											
CA13	377677	broad.mit.edu	37	8	86178909	86178909	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr8:86178909G>A	ENST00000321764.3	+	4	729	c.427G>A	c.(427-429)Gct>Act	p.A143T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	143					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	AGATGGACTGGCTGTCTTGGG	0.418																																						uc003ydg.2																			0				large_intestine(1)|lung(6)	7						c.(427-429)Gct>Act		Homo sapiens carbonic anhydrase XIII (CA13), mRNA.							128	113	118					8																	86178909		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86178909G>A	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.427G>A	8.37:g.86178909G>A	ENSP00000318912:p.Ala143Thr		Somatic				CA13_uc003ydf.1_Non-coding_Transcript	p.A143T	NM_198584	NP_940986	WXS	Illumina GAIIx	Phase_I	Q8N1Q1	CAH13_HUMAN			3	769	+			143						Missense_Mutation	SNP	ENST00000321764.3	37	c.427G>A	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031701	0.93575	.	.	ENSG00000185015	ENST00000321764	T	0.78481	-1.18	5.49	4.61	0.57282	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91320	0.5081	10	0.87932	D	0	-22.7973	15.5723	0.76349	0.0:0.1387:0.8613:0.0	.	143	Q8N1Q1	CAH13_HUMAN	T	143	ENSP00000318912:A143T	ENSP00000318912:A143T	A	+	1	0	CA13	86366161	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.531000	0.90610	1.442000	0.47568	0.655000	0.94253	GCT		0.418	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		38	38	0	0	0	1	0	38	38					A	86178909	G	A	86178909	3	1	373	1	0	0	0	0	1	0	0	0	2514	1203	42	2	441	2	CA13	8	86178909	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08	58544800	86178909	60185113	19	6371											
CALCB	797	broad.mit.edu	37	11	15096620	15096620	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:15096620A>G	ENST00000533448.1	+	3	211	c.100A>G	c.(100-102)Agc>Ggc	p.S34G	CALCB_ENST00000324229.6_Missense_Mutation_p.S34G|CALCB_ENST00000523376.1_Missense_Mutation_p.S45G			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	34					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGCCCTGGAGAGCAGCCCAGA	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mlx.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(100-102)Agc>Ggc		Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.							54	57	56					11																	15096620		2200	4294	6494	SO:0001583	missense	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15096620A>G		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.100A>G	11.37:g.15096620A>G	ENSP00000433490:p.Ser34Gly		Somatic	OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	700	CALCB_uc009ygr.1_Missense_Mutation_p.S34G	p.S34G	NM_000728	NP_000719	WXS	Illumina GAIIx	Phase_I	P10092	CALCB_HUMAN			2	173	+			34					A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	c.100A>G	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180995	0.38511	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.25085	1.82;1.82;1.82	5.41	1.68	0.24146	.	0.296791	0.29948	N	0.010784	T	0.22044	0.0531	M	0.74881	2.28	0.24692	N	0.993306	B	0.15141	0.012	B	0.14578	0.011	T	0.26916	-1.0089	10	0.48119	T	0.1	.	0.4523	0.00503	0.3945:0.1319:0.2469:0.2267	.	34	P10092	CALCB_HUMAN	G	45;34;34	ENSP00000428882:S45G;ENSP00000346017:S34G;ENSP00000433490:S34G	ENSP00000346017:S34G	S	+	1	0	CALCB	15053196	1.000000	0.71417	0.981000	0.43875	0.774000	0.43823	1.994000	0.40757	0.989000	0.38761	0.459000	0.35465	AGC		0.617	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		42	57	0	0	0	1	0	42	57					G	15096620	A	G	15096620	3	3	373	1	0	0	0	0	1	0	0	0	2576	304	11	3	106	3	CALCB	11	15096620	Missense_Mutation	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		15096620	119909896	20	6372											
KDM2A	22992	broad.mit.edu	37	11	66995593	66995593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr11:66995593delC	ENST00000529006.2	+	11	1489	c.1043delC	c.(1042-1044)tccfs	p.S348fs	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Frame_Shift_Del_p.S348fs	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	348					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACCAACCGTTCCCACCTAACT	0.453																																						uc001ojw.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1042-1044)tccfs		Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.							186	178	181					11																	66995593		1895	4127	6022	SO:0001589	frameshift_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66995593delC	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1043delC	11.37:g.66995593delC	ENSP00000432786:p.Ser348fs		Somatic				KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Frame_Shift_Del_p.S42fs	p.S348fs	NM_012308	NP_036440	WXS	Illumina GAIIx	Phase_I	Q9Y2K7	KDM2A_HUMAN			10	1907	+			348					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Frame_Shift_Del	DEL	ENST00000529006.2	37	c.1043delC	CCDS44657.1																																																																																				0.453	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		70	88						70	88	---	---	---	---	-	66995593	C	-	66995593	7	5	373	1	0	1	0	1	0	0	0	0	8124	855	30	0	1081	0	KDM2A	11	66995593	Frame_Shift_Del	DEL	C	TCGA-FY-A3W9-01A-11D-A22D-08	51898973	66995593	68010923	21	6373											
SACS	26278	broad.mit.edu	37	13	23904954	23904954	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr13:23904954T>A	ENST00000382292.3	-	9	13334	c.13061A>T	c.(13060-13062)cAt>cTt	p.H4354L	SACS_ENST00000402364.1_Missense_Mutation_p.H3604L|SACS_ENST00000382298.3_Missense_Mutation_p.H4354L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4354	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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)		ATTCTGCAAATGTTTAAAAAC	0.383																																						uc001uon.2																			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.(13060-13062)cAt>cTt		Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.							89	93	92					13																	23904954		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	g.chr13:23904954T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13061A>T	13.37:g.23904954T>A	ENSP00000371729:p.His4354Leu		Somatic				SACS_uc001uoo.2_Missense_Mutation_p.H4207L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.H4354L	NM_014363	NP_055178	WXS	Illumina GAIIx	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	9	13650	-		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)	4354			J.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13061A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411280	0.83340	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	T;T;T	0.81163	-1.46;-1.46;-1.46	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	N	0.02916	-0.46	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84688	0.0721	10	0.59425	D	0.04	.	16.2001	0.82067	0.0:0.0:0.0:1.0	.	4354	Q9NZJ4	SACS_HUMAN	L	4354;3604;4354	ENSP00000371729:H4354L;ENSP00000385844:H3604L;ENSP00000371735:H4354L	ENSP00000371729:H4354L	H	-	2	0	SACS	22802954	1.000000	0.71417	0.712000	0.30502	0.989000	0.77384	8.036000	0.88901	2.216000	0.71823	0.460000	0.39030	CAT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		40	6	0	0	0	1	0	40	6					A	23904954	T	A	23904954	3	1	373	1	0	0	0	0	1	0	0	0	13804	1464	51	5	682	5	SACS	13	23904954	Missense_Mutation	SNP	T	TCGA-FY-A3W9-01A-11D-A22D-08		23904954	91264924	22	6374											
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647																																						uc002cos.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4639-4641)Cgc>Tgc		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							43	48	46					16																	2160529		2195	4289	6484	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160529G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4639C>T	16.37:g.2160529G>A	ENSP00000262304:p.Arg1547Cys		Somatic				TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1547C	p.R1547C	NM_001009944	NP_001009944	WXS	Illumina GAIIx	Phase_I	P98161	PKD1_HUMAN			14	4848	-			1547			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4639C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	13.21	2.168603	0.38315	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.67698	-0.28;-0.28	5.36	3.38	0.38709	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.126247	0.53938	D	0.000057	T	0.78162	0.4240	M	0.69823	2.125	0.35442	D	0.794935	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.943	T	0.82657	-0.0349	10	0.62326	D	0.03	.	10.3323	0.43829	0.0706:0.0:0.794:0.1353	.	1547;1547	P98161-3;P98161	.;PKD1_HUMAN	C	1547	ENSP00000262304:R1547C;ENSP00000399501:R1547C	ENSP00000262304:R1547C	R	-	1	0	PKD1	2100530	0.998000	0.40836	0.049000	0.19019	0.014000	0.08584	3.743000	0.55104	0.632000	0.30432	0.550000	0.68814	CGC		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	104	0	0	0	1	0	3	104					A	2160529	G	A	2160529	3	1	373	1	0	0	0	0	1	0	0	0	11963	1087	38	1	8400	1	PKD1	16	2160529	Missense_Mutation	SNP	G	TCGA-FY-A3W9-01A-11D-A22D-08		2160529	88194224	23	6375											
SPHK1	8877	broad.mit.edu	37	17	74383472	74383472	+	Silent	SNP	A	A	G			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr17:74383472A>G	ENST00000545180.1	+	8	1769	c.960A>G	c.(958-960)gtA>gtG	p.V320V	SPHK1_ENST00000592299.1_Silent_p.V320V|SPHK1_ENST00000323374.4_Silent_p.V406V|SPHK1_ENST00000590959.1_Silent_p.V334V|SPHK1_ENST00000392496.3_Silent_p.V320V			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	320					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCTACTTGGTATATGTGCCCG	0.592																																					GBM(90;966 1307 27369 33775 44498)	uc002jrj.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						c.(1216-1218)gtA>gtG		Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA.							88	79	82					17																	74383472		2203	4300	6503	SO:0001819	synonymous_variant	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74383472A>G	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.960A>G	17.37:g.74383472A>G			Somatic				SPHK1_uc002jrf.1_Silent_p.V320V|SPHK1_uc002jrg.1_Silent_p.V269V|SPHK1_uc002jrh.2_Silent_p.V334V|SPHK1_uc002jri.2_Silent_p.V320V|SPHK1_uc002jrk.3_Silent_p.V320V	p.V406V	NM_182965	NP_001136074	WXS	Illumina GAIIx	Phase_I	Q9NYA1	SPHK1_HUMAN			5	1715	+			320					Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	c.1218A>G	CCDS45785.1																																																																																				0.592	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		25	31	0	0	0	1	0	25	31					G	74383472	A	G	74383472	2	3	373	1	0	0	0	0	0	0	0	1	15045	436	16	3		3	SPHK1	17	74383472	Silent	SNP	A	TCGA-FY-A3W9-01A-11D-A22D-08		74383472	6811738	24	6376											
DBP	1628	broad.mit.edu	37	19	49139149	49139149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr19:49139149delC	ENST00000222122.5	-	2	681	c.238delG	c.(238-240)gcafs	p.A80fs	DBP_ENST00000593500.1_5'Flank|DBP_ENST00000601104.1_Frame_Shift_Del_p.A80fs|DBP_ENST00000599385.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	80					liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCCACCACTGCCCCAGCCGGG	0.761																																						uc002pjx.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(238-240)gcafs		Homo sapiens D site of albumin promoter (albumin D-box) binding protein (DBP), mRNA.							2	2	2					19																	49139149		1428	3096	4524	SO:0001589	frameshift_variant	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49139149delC	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.238delG	19.37:g.49139149delC	ENSP00000222122:p.Ala80fs		Somatic				SEC1_uc010xzv.2_5'Flank|SEC1_uc002pka.3_5'Flank|SEC1_uc010xzw.2_5'Flank|SEC1_uc010ema.3_5'Flank|DBP_uc002pjy.2_Frame_Shift_Del_p.A80fs|DBP_uc010elz.1_Frame_Shift_Del_p.A80fs	p.A80fs	NM_001352	NP_001343	WXS	Illumina GAIIx	Phase_I	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	626	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	80					A2I2P4	Frame_Shift_Del	DEL	ENST00000222122.5	37	c.238delG	CCDS12728.1																																																																																				0.761	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		2	4						2	4	---	---	---	---	-	49139149	C	-	49139149	7	5	373	1	0	1	0	1	0	0	0	0	4256	739	26	0	751	0	DBP	19	49139149	Frame_Shift_Del	DEL	C	TCGA-FY-A3W9-01A-11D-A22D-08		49139149	9989834	25	6377											
GGA1	26088	broad.mit.edu	37	22	38013055	38013055	+	Intron	DEL	G	G	-			TCGA-FY-A3W9-01A-11D-A22D-08	TCGA-FY-A3W9-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	394b10da-aa66-49cb-8448-6c82165ae22a	c2b952ae-aee7-4ac2-a122-bea1eead79f5	g.chr22:38013055delG	ENST00000343632.4	+	3	590				GGA1_ENST00000414350.3_Frame_Shift_Del_p.K85fs|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000381756.5_Splice_Site_p.K85fs|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_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)					ACGACACCAAGGGAGGCCAAG	0.622																																						uc003atb.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(253-255)aagfs		Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 3, mRNA.							36	39	38					22																	38013055		2194	4292	6486	SO:0001627	intron_variant	26088				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding	g.chr22:38013055delG	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.204+51G>-	22.37:g.38013055delG			Somatic				GGA1_uc003atc.3_Intron|GGA1_uc003ate.3_Intron|GGA1_uc003atd.3_Intron|GGA1_uc003atf.3_Intron	p.K85fs	NM_001001561	NP_001001561	WXS	Illumina GAIIx	Phase_I	Q9UJY5	GGA1_HUMAN			2	642	+	Melanoma(58;0.0574)		0			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Frame_Shift_Del	DEL	ENST00000343632.4	37	c.255delG	CCDS13951.1																																																																																				0.622	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		2	4						2	4	---	---	---	---	-	38013055	G	-	38013055	6	5	373	0	1	1	0	1	0	0	0	0	6352	991	35	0		0	GGA1	22	38013055	Intron	DEL	G	TCGA-FY-A3W9-01A-11D-A22D-08		38013055	13291511	26	6378											
POLQ	10721	broad.mit.edu	37	3	121179063	121179063	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr3:121179063G>A	ENST00000264233.5	-	25	7114	c.6986C>T	c.(6985-6987)gCt>gTt	p.A2329V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2329					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAGTAGTCAGCAGCCAGTAT	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.4																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6985-6987)gCt>gTt	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.							75	71	72					3																	121179063		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity	g.chr3:121179063G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6986C>T	3.37:g.121179063G>A	ENSP00000264233:p.Ala2329Val		Somatic				POLQ_uc003eed.3_Missense_Mutation_p.A1501V	p.A2329V	NM_199420	NP_955452	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	24	7115	-			2329					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6986C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532622	0.85812	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.97209	-4.29	5.6	5.6	0.85130	DNA-directed DNA polymerase, family A, palm domain (2);	0.111909	0.64402	D	0.000011	D	0.97980	0.9335	M	0.63843	1.955	0.42902	D	0.994235	D;D	0.71674	0.996;0.998	P;D	0.68039	0.873;0.955	D	0.98083	1.0405	10	0.45353	T	0.12	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	2329;1501	O75417;O75417-2	DPOLQ_HUMAN;.	V	1952;2329;2465	ENSP00000264233:A2329V	ENSP00000264233:A2329V	A	-	2	0	POLQ	122661753	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.217000	0.77982	2.630000	0.89119	0.591000	0.81541	GCT		0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		3	67	0	0	0	1	0	3	67					A	121179063	G	A	121179063	3	1	374	1	0	0	0	0	1	0	0	0	12208	971	34	2	810	2	POLQ	3	121179063	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		121179063	76843367	1	6379											
TBC1D14	57533	broad.mit.edu	37	4	7032081	7032081	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr4:7032081C>T	ENST00000409757.4	+	14	2168	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	TBC1D14_ENST00000451522.2_Missense_Mutation_p.R402W|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R329W|RP11-367J11.2_ENST00000500031.1_RNA|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R454W|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R682W	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	682					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GAAAGACAGCCGGGAAATGGA	0.577																																						uc011bwg.2																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(2044-2046)Cgg>Tgg		Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.							95	85	88					4																	7032081		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7032081C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.2044C>T	4.37:g.7032081C>T	ENSP00000386921:p.Arg682Trp		Somatic				TBC1D14_uc003gjs.4_Missense_Mutation_p.R682W|TBC1D14_uc010idh.3_Missense_Mutation_p.R402W|TBC1D14_uc011bwh.2_Missense_Mutation_p.R329W|TBC1D14_uc003gju.4_Missense_Mutation_p.R173W	p.R682W	NM_001113361	NP_065824	WXS	Illumina GAIIx	Phase_I	Q9P2M4	TBC14_HUMAN			13	2123	+			682					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.2044C>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512988	0.64522	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.08896	3.45;3.45;3.43;3.45;3.04	5.01	2.31	0.28768	.	0.220514	0.31312	N	0.007861	T	0.18383	0.0441	L	0.51422	1.61	0.45791	D	0.998671	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.74023	0.963;0.928;0.982	T	0.00379	-1.1777	10	0.49607	T	0.09	-17.0223	8.1902	0.31363	0.2797:0.6461:0.0:0.0742	.	329;402;682	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	W	682;682;454;402;329	ENSP00000404041:R682W;ENSP00000386921:R682W;ENSP00000386343:R454W;ENSP00000388886:R402W;ENSP00000405875:R329W	ENSP00000386921:R682W	R	+	1	2	TBC1D14	7082982	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.502000	0.35704	0.286000	0.22352	-0.324000	0.08512	CGG		0.577	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		29	58	0	0	0	1	0	29	58					T	7032081	C	T	7032081	3	4	374	1	0	0	0	0	1	0	0	0	15600	643	23	1	2101	1	TBC1D14	4	7032081	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		7032081	184122195	2	6380											
TRAF1	7185	broad.mit.edu	37	9	123673658	123673658	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr9:123673658C>A	ENST00000373887.3	-	6	3284	c.839G>T	c.(838-840)tGc>tTc	p.C280F	TRAF1_ENST00000540010.1_Missense_Mutation_p.C280F|TRAF1_ENST00000546084.1_Missense_Mutation_p.C158F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	280	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CGACTCATGGCACCGCCTGGT	0.637																																						uc004bku.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						c.(838-840)tGc>tTc		Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.							49	42	45					9																	123673658		2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123673658C>A	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.839G>T	9.37:g.123673658C>A	ENSP00000362994:p.Cys280Phe		Somatic				TRAF1_uc011lyg.2_Missense_Mutation_p.C158F|TRAF1_uc010mvl.2_Missense_Mutation_p.C280F	p.C280F	NM_005658	NP_001177876	WXS	Illumina GAIIx	Phase_I	Q13077	TRAF1_HUMAN			5	1411	-			280			MATH.		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.839G>T	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882024	0.51908	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.41758	0.99;0.99;0.99	4.64	4.64	0.57946	TRAF-type (1);TRAF-like (1);MATH (3);	0.297563	0.33753	N	0.004593	T	0.22820	0.0551	N	0.12182	0.205	0.36665	D	0.878193	B	0.17852	0.024	B	0.11329	0.006	T	0.14952	-1.0454	10	0.09590	T	0.72	-21.8104	12.6316	0.56661	0.1769:0.8231:0.0:0.0	.	280	Q13077	TRAF1_HUMAN	F	280;280;158	ENSP00000362994:C280F;ENSP00000443183:C280F;ENSP00000438583:C158F	ENSP00000362994:C280F	C	-	2	0	TRAF1	122713479	0.903000	0.30736	1.000000	0.80357	0.990000	0.78478	2.013000	0.40942	2.286000	0.76751	0.563000	0.77884	TGC		0.637	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		3	37	0	0	0	1	0	3	37					A	123673658	C	A	123673658	3	1	374	1	0	0	0	0	1	0	0	0	16434	710	25	4	423	4	TRAF1	9	123673658	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		123673658	17539773	3	6381											
LYZL2	119180	broad.mit.edu	37	10	30915131	30915131	+	Silent	SNP	G	G	A	rs374503421		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr10:30915131G>A	ENST00000375318.2	-	3	395	c.339C>T	c.(337-339)gaC>gaT	p.D113D		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	67					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CGATGCTGCCGTCATCCAGGA	0.587																																						uc001ivk.3																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(337-339)gaC>gaT		Homo sapiens lysozyme-like 2 (LYZL2), mRNA.		G		0,4406		0,0,2203	157	118	131		339	-4.5	0.0	10		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LYZL2	NM_183058.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		113/195	30915131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915131G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.339C>T	10.37:g.30915131G>A			Somatic					p.D113D	NM_183058	NP_898881	WXS	Illumina GAIIx	Phase_I	Q7Z4W2	LYZL2_HUMAN			2	352	-		Prostate(175;0.151)	67					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.339C>T	CCDS7167.2																																																																																				0.587	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		24	53	0	0	0	1	0	24	53					A	30915131	G	A	30915131	2	1	374	1	0	0	0	0	0	0	0	1	9132	1136	40	1		1	LYZL2	10	30915131	Silent	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		30915131	104619616	4	6382											
PIAS2	9063	broad.mit.edu	37	18	44470887	44470887	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:44470887G>A	ENST00000585916.1	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.A52V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	52					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AATCTGAACCGCAGGGCTGCA	0.448																																						uc002lck.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(154-156)gCg>gTg		Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.							66	68	67					18																	44470887		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding	g.chr18:44470887G>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"Zinc fingers, MIZ-type"	17311	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 4"	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.155C>T	18.37:g.44470887G>A	ENSP00000465676:p.Ala52Val		Somatic				PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_Intron|PIAS2_uc002lcl.3_Missense_Mutation_p.A52V|PIAS2_uc002lcm.3_Missense_Mutation_p.A52V|PIAS2_uc002lcn.1_Missense_Mutation_p.A56V	p.A52V	NM_004671	NP_004662	WXS	Illumina GAIIx	Phase_I	O75928	PIAS2_HUMAN			1	342	-			52					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.155C>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606423	0.46527	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.34275	1.37	6.06	5.19	0.71726	DNA-binding SAP (1);	0.110818	0.64402	N	0.000012	T	0.29976	0.0750	L	0.38838	1.175	0.80722	D	1	B;B;B;B	0.25169	0.119;0.008;0.029;0.007	B;B;B;B	0.23018	0.043;0.008;0.029;0.013	T	0.04565	-1.0942	10	0.25106	T	0.35	-4.3726	15.1526	0.72713	0.0671:0.0:0.9329:0.0	.	56;52;52;52	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	52;52;48;52	ENSP00000317163:A52V	ENSP00000262161:A52V	A	-	2	0	PIAS2	42724885	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.550000	0.73905	1.578000	0.49821	0.650000	0.86243	GCG		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		3	53	0	0	0	1	0	3	53					A	44470887	G	A	44470887	3	1	374	1	0	0	0	0	1	0	0	0	11876	1087	38	1	1837	1	PIAS2	18	44470887	Missense_Mutation	SNP	G	TCGA-FY-A3WA-01A-11D-A22D-08		44470887	33606361	5	6383											
SERPINB4	6318	broad.mit.edu	37	18	61309020	61309020	+	Missense_Mutation	SNP	C	C	T	rs267605228		TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr18:61309020C>T	ENST00000341074.5	-	4	440	c.325G>A	c.(325-327)Gga>Aga	p.G109R	SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	109					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)	p.G109*(1)		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						GTCTTTTCTCCGAAGAGCTTG	0.413													C|||	1	0.000199681	8e-04	0	5008	,	,		20596	0		0	False		,,,				2504	0					uc002ljf.3																			1	Substitution - Nonsense(1)	p.G109*(1)|p.G109V(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(325-327)Gga>Aga		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.							237	219	225					18																	61309020		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61309020C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.325G>A	18.37:g.61309020C>T	ENSP00000343445:p.Gly109Arg		Somatic				SERPINB3_uc002lje.3_Missense_Mutation_p.G109R|SERPINB3_uc002ljg.3_Intron	p.G109R	NM_002974	NP_002965	WXS	Illumina GAIIx	Phase_I	P29508	SPB3_HUMAN			3	411	-			109					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.325G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220669	0.58560	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.84873	-1.91;-1.91	3.76	1.93	0.25924	Serpin domain (3);	1.026050	0.07803	N	0.956916	D	0.91925	0.7443	M	0.92169	3.28	0.30751	N	0.745066	D;D	0.61080	0.975;0.989	P;P	0.55508	0.541;0.777	D	0.83714	0.0189	10	0.72032	D	0.01	.	8.7289	0.34487	0.0:0.8059:0.0:0.1941	.	109;109	P48594;Q9BYF7	SPB4_HUMAN;.	R	109	ENSP00000343445:G109R;ENSP00000348795:G109R	ENSP00000343445:G109R	G	-	1	0	SERPINB4	59460000	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	0.399000	0.20916	0.373000	0.24621	0.603000	0.83216	GGA		0.413	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		74	116	0	0	0	1	0	74	116					T	61309020	C	T	61309020	3	4	374	1	0	0	0	0	1	0	0	0	14103	661	23	1	867	1	SERPINB4	18	61309020	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08	16838133	61309020	16768228	6	6384											
BCL2L12	83596	broad.mit.edu	37	19	50170383	50170383	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr19:50170383C>G	ENST00000246785.3	+	3	725	c.467C>G	c.(466-468)tCt>tGt	p.S156C	IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000596765.1_5'Flank|BCL2L12_ENST00000246784.3_Intron|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.S155C|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000600022.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	156					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)		CGGCCTTGCTCTCTGCCCATC	0.567																																						uc002ppa.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(466-468)tCt>tGt		Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.							111	123	119					19																	50170383		2203	4300	6503	SO:0001583	missense	83596				apoptosis			g.chr19:50170383C>G	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.467C>G	19.37:g.50170383C>G	ENSP00000246785:p.Ser156Cys		Somatic				IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.S155C	p.S156C	NM_138639	NP_619580	WXS	Illumina GAIIx	Phase_I	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	2	1149	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	156					Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	ENST00000246785.3	37	c.467C>G	CCDS12776.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347528	0.61183	.	.	ENSG00000126453	ENST00000246785;ENST00000441864	T;T	0.50813	0.73;0.73	3.53	2.49	0.30216	.	0.436858	0.17115	N	0.186458	T	0.38825	0.1055	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.53450	0.726;0.726	T	0.11842	-1.0571	10	0.35671	T	0.21	-11.9185	6.1719	0.20422	0.0:0.8573:0.0:0.1427	.	155;156	Q3SY13;Q9HB09	.;B2L12_HUMAN	C	156;155	ENSP00000246785:S156C;ENSP00000393803:S155C	ENSP00000246785:S156C	S	+	2	0	BCL2L12	54862195	0.985000	0.35326	0.991000	0.47740	0.942000	0.58702	0.842000	0.27627	1.041000	0.40125	0.561000	0.74099	TCT		0.567	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		20	343	0	0	0	1	0	20	343					G	50170383	C	G	50170383	3	3	374	1	0	0	0	0	1	0	0	0	1370	913	32	4	477	4	BCL2L12	19	50170383	Missense_Mutation	SNP	C	TCGA-FY-A3WA-01A-11D-A22D-08		50170383	8958600	7	6385											
CLIC6	54102	broad.mit.edu	37	21	36088676	36088676	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3WA-01A-11D-A22D-08	TCGA-FY-A3WA-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c94a2f-7b2f-4067-9d0b-7606c893f9e9	2184c4d7-dcda-4c5d-ae4e-ee823a887d79	g.chr21:36088676A>G	ENST00000360731.3	+	7	2011	c.2011A>G	c.(2011-2013)Aga>Gga	p.R671G	CLIC6_ENST00000349499.2_Missense_Mutation_p.R653G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	671	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGGCATCTGGAGATACTTGAA	0.363																																						uc010gmt.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(2011-2013)Aga>Gga		Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.							144	136	139					21																	36088676		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088676A>G	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2011A>G	21.37:g.36088676A>G	ENSP00000353959:p.Arg671Gly		Somatic				CLIC6_uc002yuf.1_Missense_Mutation_p.R653G	p.R671G	NM_053277	NP_444507	WXS	Illumina GAIIx	Phase_I	Q96NY7	CLIC6_HUMAN			6	2011	+			671			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.2011A>G		.	.	.	.	.	.	.	.	.	.	A	18.47	3.630301	0.67015	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	4.68	0.58851	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96929	0.8997	M	0.88241	2.94	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97089	0.9789	10	0.87932	D	0	-3.7579	13.2783	0.60200	0.8677:0.1323:0.0:0.0	.	671;653	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	G	671;653	ENSP00000353959:R671G;ENSP00000290332:R653G	ENSP00000290332:R653G	R	+	1	2	CLIC6	35010546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.403000	0.66338	1.021000	0.39600	0.460000	0.39030	AGA		0.363	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			6	93	0	0	0	1	0	6	93					G	36088676	A	G	36088676	3	3	374	1	0	0	0	0	1	0	0	0	3530	296	11	3	1979	3	CLIC6	21	36088676	Missense_Mutation	SNP	A	TCGA-FY-A3WA-01A-11D-A22D-08		36088676	12041219	8	6386											
CD38	952	broad.mit.edu	37	4	15841656	15841656	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr4:15841656G>T	ENST00000226279.3	+	6	804	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	223					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TAGCACTTTTGGGAGTGTGGA	0.463																																						uc003gol.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(667-669)Ggg>Tgg		Homo sapiens CD38 molecule (CD38), mRNA.							215	233	227					4																	15841656		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity	g.chr4:15841656G>T	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.667G>T	4.37:g.15841656G>T	ENSP00000226279:p.Gly223Trp		Somatic				CD38_uc021xmk.1_Non-coding_Transcript	p.G223W	NM_001775	NP_001766	WXS	Illumina GAIIx	Phase_I	P28907	CD38_HUMAN			5	774	+			223					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.667G>T	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386010	0.42308	.	.	ENSG00000004468	ENST00000226279;ENST00000510674	T;T	0.63096	-0.02;-0.02	4.93	4.93	0.64822	NAD(P)-binding domain (1);	0.168745	0.52532	D	0.000063	T	0.79736	0.4497	M	0.83483	2.645	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	T	0.82526	-0.0413	10	0.87932	D	0	-16.43	13.5292	0.61613	0.0:0.0:1.0:0.0	.	223	P28907	CD38_HUMAN	W	223;111	ENSP00000226279:G223W;ENSP00000423047:G111W	ENSP00000226279:G223W	G	+	1	0	CD38	15450754	1.000000	0.71417	0.938000	0.37757	0.178000	0.23041	4.004000	0.57068	2.567000	0.86603	0.655000	0.94253	GGG		0.463	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		19	178	0	0	0	1	0	19	178					T	15841656	G	T	15841656	3	4	375	1	0	0	0	0	1	0	0	0	3009	1348	47	4	689	4	CD38	4	15841656	Missense_Mutation	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		15841656	175312620	1	6387											
BAT2	7916	broad.mit.edu	37	6	31595709	31595709	+	Missense_Mutation	SNP	T	T	G			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr6:31595709T>G	ENST00000376033.2	+	12	1692	c.1458T>G	c.(1456-1458)tgT>tgG	p.C486W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.C486W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	486	2 X type B repeats.|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)			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						GGGCAGCCTGTGCTGAGAAGC	0.622																																						uc003nvb.4																			0				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.(1456-1458)tgT>tgG		Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.							91	99	96					6																	31595709		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595709T>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1458T>G	6.37:g.31595709T>G	ENSP00000365201:p.Cys486Trp		Somatic				PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.C486W	p.C486W	NM_080686	NP_542417	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			11	1707	+			486			2 X type B repeats.|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.1458T>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	T	9.421	1.083129	0.20309	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.17370	2.28;2.28	4.38	0.416	0.16416	.	0.000000	0.52532	D	0.000061	T	0.22003	0.0530	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.03175	-1.1064	10	0.87932	D	0	-7.7198	8.306	0.32042	0.0:0.2511:0.0:0.7489	.	486	P48634	PRC2A_HUMAN	W	486;475;486;486	ENSP00000365175:C486W;ENSP00000365201:C486W	ENSP00000365175:C486W	C	+	3	2	PRRC2A	31703688	0.905000	0.30787	0.998000	0.56505	0.989000	0.77384	-0.080000	0.11339	0.003000	0.14656	0.459000	0.35465	TGT		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		51	107	0	0	0	1	0	51	107					G	31595709	T	G	31595709	3	3	375	1	0	0	0	0	1	0	0	0	1319	1702	59	5	1500	5	BAT2	6	31595709	Missense_Mutation	SNP	T	TCGA-FY-A40K-01A-11D-A23M-08		31595709	139519358	2	6388											
MMD2	221938	broad.mit.edu	37	7	4947083	4947083	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr7:4947083C>T	ENST00000404774.3	-	7	951	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	MMD2_ENST00000401401.3_Missense_Mutation_p.A229T|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	253						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CTCCAGATGGCATAGTAGTGG	0.552																																						uc003sno.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14						c.(757-759)Gcc>Acc		Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.							106	107	106					7																	4947083		2034	4179	6213	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947083C>T	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.757G>A	7.37:g.4947083C>T	ENSP00000384690:p.Ala253Thr		Somatic				MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Missense_Mutation_p.A229T|MMD2_uc010ksq.3_3'UTR	p.A253T	NM_001100600	NP_001094070	WXS	Illumina GAIIx	Phase_I	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	6	953	-		Ovarian(82;0.0175)	253					B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.757G>A	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	C	35	5.590949	0.96590	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	.	.	.	5.53	5.53	0.82687	.	0.208124	0.39985	N	0.001201	D	0.84170	0.5413	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.945;0.99	D	0.86411	0.1748	9	0.87932	D	0	-37.7259	18.5266	0.90975	0.0:1.0:0.0:0.0	.	253;229	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	T	253;229	.	ENSP00000384141:A229T	A	-	1	0	MMD2	4913609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	2.610000	0.88304	0.650000	0.86243	GCC		0.552	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		10	68	0	0	0	1	0	10	68					T	4947083	C	T	4947083	3	4	375	1	0	0	0	0	1	0	0	0	9644	710	25	2	59	2	MMD2	7	4947083	Missense_Mutation	SNP	C	TCGA-FY-A40K-01A-11D-A23M-08		4947083	154191580	3	6389											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	48	0	0	0	1	0	18	48					T	140453136	A	T	140453136	3	4	375	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A40K-01A-11D-A23M-08	135506053	140453136	18685527	4	6390											
CYP2C19	1557	broad.mit.edu	37	10	96535189	96535189	+	Missense_Mutation	SNP	G	G	A	rs141774245	byFrequency	TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr10:96535189G>A	ENST00000371321.3	+	3	456	c.374G>A	c.(373-375)cGt>cAt	p.R125H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	125					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R125H(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGATCCGGCGTTTCTCCCTC	0.507																																						uc010qnz.2																			1	Substitution - Missense(1)	p.R125H(2)	endometrium(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(373-375)cGt>cAt		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	G	HIS/ARG	0,4406		0,0,2203	142	132	136		374	3.9	0.0	10	dbSNP_134	136	7,8593	5.0+/-18.6	0,7,4293	no	missense	CYP2C19	NM_000769.1	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	125/491	96535189	7,12999	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96535189G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.374G>A	10.37:g.96535189G>A	ENSP00000360372:p.Arg125His		Somatic				CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R103H	p.R125H	NM_000769	NP_000760	WXS	Illumina GAIIx	Phase_I	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	2	374	+		Colorectal(252;0.09)	125					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.374G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055875	0.93793	0.0	8.14E-4	ENSG00000165841	ENST00000371321	T	0.15603	2.41	3.9	3.9	0.45041	.	0.000000	0.64402	U	0.000003	T	0.28167	0.0695	M	0.88450	2.955	0.36709	D	0.880548	P	0.47604	0.898	B	0.40677	0.337	T	0.54629	-0.8265	10	0.56958	D	0.05	.	13.7827	0.63091	0.0:0.0:1.0:0.0	.	125	P33261	CP2CJ_HUMAN	H	125	ENSP00000360372:R125H	ENSP00000360372:R125H	R	+	2	0	CYP2C19	96525179	0.075000	0.21258	0.004000	0.12327	0.777000	0.43975	2.426000	0.44731	1.888000	0.54679	0.405000	0.27470	CGT		0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		49	90	0	0	0	1	0	49	90					A	96535189	G	A	96535189	3	1	375	1	0	0	0	0	1	0	0	0	4166	1145	40	1	384	1	CYP2C19	10	96535189	Missense_Mutation	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		96535189	38999558	5	6391											
RTTN	25914	broad.mit.edu	37	18	67872889	67872889	+	Silent	SNP	G	G	A			TCGA-FY-A40K-01A-11D-A23M-08	TCGA-FY-A40K-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	353963dc-f500-47e0-ab0b-b7eb3cfc648d	4fdd7299-93c1-4177-924c-4152bb796d85	g.chr18:67872889G>A	ENST00000255674.6	-	1	292	c.6C>T	c.(4-6)gtC>gtT	p.V2V	RTTN_ENST00000454359.1_Silent_p.V2V|RTTN_ENST00000437017.1_Silent_p.V2V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2					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)				GCCCTGCCAGGACCATCTCGT	0.602																																						uc002lkp.2																			0				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						c.(4-6)gtC>gtT		Homo sapiens rotatin (RTTN), mRNA.							41	48	45					18																	67872889		1996	4152	6148	SO:0001819	synonymous_variant	25914						binding	g.chr18:67872889G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6C>T	18.37:g.67872889G>A			Somatic				RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.V2V	p.V2V	NM_173630	NP_775901	WXS	Illumina GAIIx	Phase_I	Q86VV8	RTTN_HUMAN			0	74	-		Esophageal squamous(42;0.129)	2					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.6C>T	CCDS42443.1																																																																																				0.602	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		17	27	0	0	0	1	0	17	27					A	67872889	G	A	67872889	2	1	375	1	0	0	0	0	0	0	0	1	13737	1161	41	2		2	RTTN	18	67872889	Silent	SNP	G	TCGA-FY-A40K-01A-11D-A23M-08		67872889	10204359	6	6392											
ZC3H15	55854	broad.mit.edu	37	2	187351112	187351113	+	Start_Codon_Ins	INS	-	-	C	rs375523117		TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr2:187351112_187351113insC	ENST00000337859.6	+	0	230_231				ZC3H15_ENST00000544130.1_5'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15						cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TCTCCGCAATGCCCCCCAAGAA	0.609																																						uc002upo.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(1-6)atgcccfs		Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.																																				SO:0001582	initiator_codon_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187351112_187351113insC		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.9dupC	2.37:g.187351118_187351118dupC			Somatic					p.M1fs	NM_018471	NP_060941	WXS	Illumina GAIIx	Phase_I	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		0	228_229	+			1					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Frame_Shift_Ins	INS	ENST00000337859.6	37	c.3_4insC	CCDS42791.1																																																																																				0.609	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		2	4						2	4	---	---	---	---	C	187351113	-	C	187351112	7	5	376	1	0	1	1	0	0	0	0	0	17564	1319	46	0	5	0	ZC3H15	2	187351112	Start_Codon_Ins	INS	-	TCGA-FY-A4B3-01A-11D-A23U-08		187351112	55848261	1	6393											
MSL3L2	151507	broad.mit.edu	37	2	234774852	234774852	+	RNA	SNP	G	G	C			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr2:234774852G>C	ENST00000438684.1	-	0	1262					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CTGGGAAGAAGTCATCGTGGT	0.433																																						uc010znf.2																			0											c.(988-990)gaC>gaG		Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.							118	99	105					2																	234774852		692	1591	2283			151507							g.chr2:234774852G>C	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234774852G>C			Somatic					p.D330E			WXS	Illumina GAIIx	Phase_I					1	1228	-									Missense_Mutation	SNP	ENST00000438684.1	37	c.990C>G																																																																																					0.433	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		19	32	0	0	0	1	0	19	32					C	234774852	G	C	234774852	1	2	376	0	1	0	0	0	0	0	0	0	9880	1020	36	4		4	MSL3L2	2	234774852	RNA	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08	47423740	234774852	8424521	2	6394											
ADAMTS16	170690	broad.mit.edu	37	5	5237086	5237086	+	Silent	SNP	G	G	A			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr5:5237086G>A	ENST00000274181.7	+	14	2166	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	676	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTTAAGATCAGGACTTATGCA	0.353																																						uc003jdl.3																			0		p.Q676E(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2026-2028)caG>caA		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							134	121	125					5																	5237086		1836	4084	5920	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237086G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2028G>A	5.37:g.5237086G>A			Somatic				ADAMTS16_uc003jdk.1_Silent_p.Q676Q|ADAMTS16_uc010itk.1_Intron	p.Q676Q	NM_139056	NP_620687	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			13	2166	+			676			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2028G>A	CCDS43299.1																																																																																				0.353	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		7	31	0	0	0	1	0	7	31					A	5237086	G	A	5237086	2	1	376	1	0	0	0	0	0	0	0	1	261	991	35	2		2	ADAMTS16	5	5237086	Silent	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		5237086	175678174	3	6395											
CDH6	1004	broad.mit.edu	37	5	31305327	31305327	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr5:31305327C>A	ENST00000265071.2	+	7	1311	c.1046C>A	c.(1045-1047)gCc>gAc	p.A349D	CDH6_ENST00000514738.1_Missense_Mutation_p.A294D	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|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						AAAGTGGAAGCCTCCAATCCT	0.463																																						uc003jhe.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.(1045-1047)gCc>gAc		Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.							93	90	91					5																	31305327		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.chr5:31305327C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1046C>A	5.37:g.31305327C>A	ENSP00000265071:p.Ala349Asp		Somatic				CDH6_uc003jhd.2_Missense_Mutation_p.A349D	p.A349D	NM_004932	NP_004923	WXS	Illumina GAIIx	Phase_I	P55285	CADH6_HUMAN			6	1406	+			349			Cadherin 3.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1046C>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630943	0.87660	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58940	0.3;0.3	5.88	5.88	0.94601	Cadherin (5);Cadherin-like (1);	0.052391	0.85682	D	0.000000	D	0.84660	0.5521	H	0.96365	3.81	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.951	D	0.88700	0.3215	10	0.87932	D	0	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	349;349	P55285;P55285-2	CADH6_HUMAN;.	D	294;349	ENSP00000424843:A294D;ENSP00000265071:A349D	ENSP00000265071:A349D	A	+	2	0	CDH6	31341084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.558000	0.67319	2.780000	0.95670	0.655000	0.94253	GCC		0.463	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		18	27	0	0	0	1	0	18	27					A	31305327	C	A	31305327	3	1	376	1	0	0	0	0	1	0	0	0	3114	739	26	4	1068	4	CDH6	5	31305327	Missense_Mutation	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08	26068241	31305327	149609933	4	6396											
GPR116	221395	broad.mit.edu	37	6	46826302	46826302	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr6:46826302T>C	ENST00000283296.7	-	17	3626	c.3338A>G	c.(3337-3339)tAt>tGt	p.Y1113C	GPR116_ENST00000456426.2_Missense_Mutation_p.Y971C|GPR116_ENST00000362015.4_Missense_Mutation_p.Y1113C|GPR116_ENST00000545669.1_Missense_Mutation_p.Y542C|GPR116_ENST00000265417.7_Missense_Mutation_p.Y1113C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1113					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AACCAGGCGATAGAACAGCAT	0.517																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(3337-3339)tAt>tGt		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							48	49	49					6																	46826302		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826302T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3338A>G	6.37:g.46826302T>C	ENSP00000283296:p.Tyr1113Cys		Somatic				GPR116_uc011dwj.1_Missense_Mutation_p.Y668C|GPR116_uc011dwk.1_Missense_Mutation_p.Y542C|GPR116_uc003oyp.3_Missense_Mutation_p.Y971C|GPR116_uc003oyq.3_Missense_Mutation_p.Y1113C|GPR116_uc010jzi.1_Missense_Mutation_p.Y785C	p.Y1113C	NM_001098518	NP_056049	WXS	Illumina GAIIx	Phase_I	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		16	3627	-			1113					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3338A>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320894	0.60634	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.38	4.19	0.49359	GPCR, family 2-like (1);	0.240498	0.29486	N	0.012007	T	0.56426	0.1984	M	0.90759	3.145	0.50313	D	0.999864	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	T	0.66630	-0.5875	10	0.87932	D	0	-22.649	11.8232	0.52252	0.1314:0.0:0.0:0.8686	.	542;668;1113;971;1113	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	C	1113;1113;1113;971;484;1113;542	ENSP00000283296:Y1113C;ENSP00000354563:Y1113C;ENSP00000412866:Y971C;ENSP00000265417:Y1113C;ENSP00000441581:Y542C	ENSP00000265417:Y1113C	Y	-	2	0	GPR116	46934261	1.000000	0.71417	0.977000	0.42913	0.918000	0.54935	7.970000	0.88000	0.941000	0.37499	0.528000	0.53228	TAT		0.517	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		3	35	0	0	0	1	0	3	35					C	46826302	T	C	46826302	3	2	376	1	0	0	0	0	1	0	0	0	6633	1406	49	3	722	3	GPR116	6	46826302	Missense_Mutation	SNP	T	TCGA-FY-A4B3-01A-11D-A23U-08		46826302	124288765	5	6397											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		6	21	0	0	0	1	0	6	21					T	140453136	A	T	140453136	3	4	376	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-FY-A4B3-01A-11D-A23U-08		140453136	18685527	6	6398											
EIF3E	3646	broad.mit.edu	37	8	109215251	109215251	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr8:109215251C>T	ENST00000220849.5	-	12	1322	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	EIF3E_ENST00000519030.1_Missense_Mutation_p.M327I|EIF3E_ENST00000519517.1_5'Flank	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TCTCAATATTCATGGCCAACA	0.398																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.3																		EIF3E/RSPO2(6)	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1258-1260)atG>atA		Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.							153	139	144					8																	109215251		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding	g.chr8:109215251C>T	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1260G>A	8.37:g.109215251C>T	ENSP00000220849:p.Met420Ile		Somatic				EIF3E_uc003ymt.3_Missense_Mutation_p.M371I	p.M420I	NM_001568	NP_001559	WXS	Illumina GAIIx	Phase_I	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		11	1288	-			420			Sufficient for interaction with MCM7.			Missense_Mutation	SNP	ENST00000220849.5	37	c.1260G>A	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.75|13.75	2.329402|2.329402	0.41197|0.41197	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000522352|ENST00000220849;ENST00000519030	.|T;T	.|0.41400	.|1.0;1.0	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.035831	.|0.85682	.|D	.|0.000000	T|T	0.32793|0.32793	0.0841|0.0841	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.07712|0.07712	-1.0758|-1.0758	5|10	.|0.20046	.|T	.|0.44	-21.1765|-21.1765	19.8276|19.8276	0.96624|0.96624	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|420	.|P60228	.|EIF3E_HUMAN	K|I	131|420;327	.|ENSP00000220849:M420I;ENSP00000428796:M327I	.|ENSP00000220849:M420I	E|M	-|-	1|3	0|0	EIF3E|EIF3E	109284427|109284427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	GAA|ATG		0.398	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		13	20	0	0	0	1	0	13	20					T	109215251	C	T	109215251	3	4	376	1	0	0	0	0	1	0	0	0	5015	826	29	2	85	2	EIF3E	8	109215251	Missense_Mutation	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08		109215251	37148771	7	6399											
C9orf9	11092	broad.mit.edu	37	9	135763731	135763731	+	Silent	SNP	C	C	T	rs537630425		TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr9:135763731C>T	ENST00000372136.3	+	4	849	c.402C>T	c.(400-402)taC>taT	p.Y134Y	C9orf9_ENST00000356311.5_Silent_p.Y134Y|C9orf9_ENST00000350499.6_Silent_p.Y134Y			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	134						cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GGAACCACTACGGCGGCGTGG	0.607																																						uc004cbx.1																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(400-402)taC>taT		Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.							90	73	79					9																	135763731		2203	4300	6503	SO:0001819	synonymous_variant	11092							g.chr9:135763731C>T		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.402C>T	9.37:g.135763731C>T			Somatic				C9orf9_uc004cby.1_Silent_p.Y134Y|C9orf9_uc004cbz.1_Silent_p.Y134Y	p.Y134Y	NM_018956	NP_061829	WXS	Illumina GAIIx	Phase_I	Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	3	513	+			134					Q9UGQ0	Silent	SNP	ENST00000372136.3	37	c.402C>T																																																																																					0.607	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		18	48	0	0	0	1	0	18	48					T	135763731	C	T	135763731	2	4	376	1	0	0	0	0	0	0	0	1	2504	547	19	1		1	C9orf9	9	135763731	Silent	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08		135763731	5449700	8	6400											
AGPAT2	10555	broad.mit.edu	37	9	139581702	139581702	+	Silent	SNP	C	C	A			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr9:139581702C>A	ENST00000371696.2	-	1	173	c.108G>T	c.(106-108)ctG>ctT	p.L36L	AGPAT2_ENST00000371694.3_Silent_p.L36L|AGPAT2_ENST00000538402.1_Silent_p.L36L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	36					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CCGTGAAGCACAGCGCGCAGT	0.726																																						uc004cii.1																			0		p.L36Q(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(106-108)ctG>ctT		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.							18	21	20					9																	139581702		1985	4005	5990	SO:0001819	synonymous_variant	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139581702C>A	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	325	protein-coding gene	gene with protein product	"LPAAT-beta", "lysophosphatidic acid acyltransferase, beta"	603100	"Berardinelli-Seip congenital lipodystrophy", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.108G>T	9.37:g.139581702C>A			Somatic				AGPAT2_uc004cij.1_Silent_p.L36L	p.L36L	NM_006412	NP_006403	WXS	Illumina GAIIx	Phase_I	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	0	210	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	36					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Silent	SNP	ENST00000371696.2	37	c.108G>T	CCDS7003.1																																																																																				0.726	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		7	35	0	0	0	1	0	7	35					A	139581702	C	A	139581702	2	1	376	1	0	0	0	0	0	0	0	1	387	465	17	4		4	AGPAT2	9	139581702	Silent	SNP	C	TCGA-FY-A4B3-01A-11D-A23U-08	3817971	139581702	1631729	9	6401											
CCDC67	159989	broad.mit.edu	37	11	93088558	93088558	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr11:93088558G>C	ENST00000298050.3	+	3	151	c.51G>C	c.(49-51)gaG>gaC	p.E17D	CCDC67_ENST00000527307.1_Missense_Mutation_p.E17D|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	17					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTGAGGCTGAGCTTCAGGAAT	0.378																																						uc001pdq.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(49-51)gaG>gaC		Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.							103	100	101					11																	93088558		1852	4087	5939	SO:0001583	missense	159989							g.chr11:93088558G>C	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.51G>C	11.37:g.93088558G>C	ENSP00000298050:p.Glu17Asp		Somatic				CCDC67_uc001pdo.1_Missense_Mutation_p.E17D|CCDC67_uc001pdp.3_Missense_Mutation_p.E17D	p.E17D	NM_181645	NP_857596	WXS	Illumina GAIIx	Phase_I	Q05D60	CCD67_HUMAN			2	151	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	17					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.51G>C	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881241	0.72294	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.54	1.49	0.22878	.	0.000000	0.56097	D	0.000021	T	0.44808	0.1311	M	0.71206	2.165	0.32877	D	0.509997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.54899	-0.8224	10	0.66056	D	0.02	.	8.739	0.34545	0.5578:0.0:0.4422:0.0	.	17;17;9	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	D	17	ENSP00000432111:E17D;ENSP00000298050:E17D;ENSP00000434635:E17D;ENSP00000433002:E17D	ENSP00000298050:E17D	E	+	3	2	CCDC67	92728206	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.102000	0.31050	0.023000	0.15187	0.491000	0.48974	GAG		0.378	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		8	52	0	0	0	1	0	8	52					C	93088558	G	C	93088558	3	2	376	1	0	0	0	0	1	0	0	0	2839	962	34	4	57	4	CCDC67	11	93088558	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		93088558	41917958	10	6402											
PPL	5493	broad.mit.edu	37	16	4935111	4935111	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr16:4935111G>A	ENST00000345988.2	-	22	3634	c.3545C>T	c.(3544-3546)cCc>cTc	p.P1182L	PPL_ENST00000590782.2_Missense_Mutation_p.P1180L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1182					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						TTCCGCCTTGGGGTCTGGCCG	0.622																																						uc002cyd.1																			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.(3544-3546)cCc>cTc		Homo sapiens periplakin (PPL), mRNA.							95	88	90					16																	4935111		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935111G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3545C>T	16.37:g.4935111G>A	ENSP00000340510:p.Pro1182Leu		Somatic					p.P1182L	NM_002705	NP_002696	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			21	3635	-			1182					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3545C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187242	0.57909	.	.	ENSG00000118898	ENST00000345988	T	0.79749	-1.3	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91097	0.4911	10	0.59425	D	0.04	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1182	O60437	PEPL_HUMAN	L	1182	ENSP00000340510:P1182L	ENSP00000340510:P1182L	P	-	2	0	PPL	4875112	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	9.827000	0.99397	2.677000	0.91161	0.561000	0.74099	CCC		0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		31	64	0	0	0	1	0	31	64					A	4935111	G	A	4935111	3	1	376	1	0	0	0	0	1	0	0	0	12334	1232	43	2	1729	2	PPL	16	4935111	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08		4935111	85419642	11	6403											
PRR12	57479	broad.mit.edu	37	19	50097869	50097869	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr19:50097869A>G	ENST00000418929.2	+	3	370	c.358A>G	c.(358-360)Aca>Gca	p.T120A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCCTGGCAAACAGGTAAGCC	0.667																																						uc002poo.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(358-360)Aca>Gca		Homo sapiens proline rich 12 (PRR12), mRNA.							30	35	34					19																	50097869		1930	4118	6048	SO:0001583	missense	57479						DNA binding	g.chr19:50097869A>G	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.358A>G	19.37:g.50097869A>G	ENSP00000394510:p.Thr120Ala		Somatic					p.T120A	NM_020719	NP_065770	WXS	Illumina GAIIx	Phase_I	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	2	358	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	534			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.358A>G	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216154	0.39201	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	T	0.77130	0.4085	.	.	.	0.37193	D	0.904039	D	0.71674	0.998	D	0.80764	0.994	T	0.82026	-0.0661	7	0.51188	T	0.08	.	13.1947	0.59732	1.0:0.0:0.0:0.0	.	120	Q9ULL5-3	.	A	120	.	ENSP00000394510:T120A	T	+	1	0	PRR12	54789681	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.284000	0.89912	1.959000	0.56917	0.460000	0.39030	ACA		0.667	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		16	36	0	0	0	1	0	16	36					G	50097869	A	G	50097869	3	3	376	1	0	0	0	0	1	0	0	0	12584	43	2	3	368	3	PRR12	19	50097869	Missense_Mutation	SNP	A	TCGA-FY-A4B3-01A-11D-A23U-08		50097869	9031114	12	6404											
KCNC3	3748	broad.mit.edu	37	19	50827018	50827018	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A4B3-01A-11D-A23U-08	TCGA-FY-A4B3-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbe5a458-6112-46da-bc88-5bf6467f73bb	f27473dd-f2e2-4039-a2f4-e60e8f59a93e	g.chr19:50827018G>C	ENST00000477616.1	-	2	1486	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.L398V	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	398					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|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)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	AGGCCCGAGAGGCCCACCTCG	0.597																																					Melanoma(91;1496 2324 50908)	uc002pru.1																			0				endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(1192-1194)Ctc>Gtc		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.							98	95	96					19																	50827018		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50827018G>C	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1192C>G	19.37:g.50827018G>C	ENSP00000434241:p.Leu398Val		Somatic				KCNC3_uc002prt.1_Missense_Mutation_p.L34V	p.L398V	NM_004977	NP_004968	WXS	Illumina GAIIx	Phase_I	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	1	1487	-		all_neural(266;0.057)|Ovarian(192;0.208)	398						Missense_Mutation	SNP	ENST00000477616.1	37	c.1192C>G	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	11.80	1.746783	0.30955	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98777	-5.13;-5.13	2.86	0.683	0.17998	Ion transport (1);	0.119748	0.34338	U	0.004053	D	0.97826	0.9286	L	0.38692	1.165	0.80722	D	1	D;P	0.71674	0.998;0.747	D;P	0.91635	0.999;0.678	D	0.96010	0.9001	10	0.52906	T	0.07	.	8.3161	0.32102	0.2336:0.0:0.7664:0.0	.	398;398	Q14003;E7ETH1	KCNC3_HUMAN;.	V	398;398;212	ENSP00000366158:L398V;ENSP00000434241:L398V	ENSP00000366158:L398V	L	-	1	0	KCNC3	55518830	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	5.470000	0.66756	0.543000	0.28864	-0.436000	0.05848	CTC		0.597	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		5	46	0	0	0	1	0	5	46					C	50827018	G	C	50827018	3	2	376	1	0	0	0	0	1	0	0	0	8016	1000	35	4	1093	4	KCNC3	19	50827018	Missense_Mutation	SNP	G	TCGA-FY-A4B3-01A-11D-A23U-08	729149	50827018	8301965	13	6405											
UNC5A	90249	broad.mit.edu	37	5	176304656	176304656	+	Missense_Mutation	SNP	C	C	G			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr5:176304656C>G	ENST00000329542.4	+	10	1861	c.1587C>G	c.(1585-1587)gaC>gaG	p.D529E	UNC5A_ENST00000261961.3_Missense_Mutation_p.D489E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	529	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCCCTGACAGCTGGAGCC	0.647																																						uc003mey.3																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1585-1587)gaC>gaG		Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.							37	34	35					5																	176304656		2203	4298	6501	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304656C>G	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1587C>G	5.37:g.176304656C>G	ENSP00000332737:p.Asp529Glu		Somatic					p.D529E	NM_133369	NP_588610	WXS	Illumina GAIIx	Phase_I	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1779	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	529			ZU5.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1587C>G	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	C	1.424	-0.572005	0.03882	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.38401	1.14;1.14	5.22	0.923	0.19413	ZU5 (3);	0.340460	0.31051	N	0.008348	T	0.13030	0.0316	N	0.03281	-0.365	0.37628	D	0.921555	B	0.02656	0.0	B	0.12837	0.008	T	0.36335	-0.9752	10	0.02654	T	1	-11.7491	11.2997	0.49298	0.081:0.5262:0.3928:0.0	.	529	Q6ZN44	UNC5A_HUMAN	E	529;489	ENSP00000332737:D529E;ENSP00000261961:D489E	ENSP00000261961:D489E	D	+	3	2	UNC5A	176237262	0.891000	0.30450	0.962000	0.40283	0.874000	0.50279	-0.114000	0.10757	0.151000	0.19162	0.305000	0.20034	GAC		0.647	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		3	35	0	0	0	1	0	3	35					G	176304656	C	G	176304656	3	3	377	1	0	0	0	0	1	0	0	0	16988	477	17	4	1625	4	UNC5A	5	176304656	Missense_Mutation	SNP	C	TCGA-GE-A2C6-01A-11D-A17V-08		176304656	4610604	1	6406											
TRERF1	55809	broad.mit.edu	37	6	42236552	42236552	+	Silent	SNP	C	C	T			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr6:42236552C>T	ENST00000372922.4	-	5	1339	c.777G>A	c.(775-777)caG>caA	p.Q259Q	TRERF1_ENST00000340840.2_Silent_p.Q259Q|TRERF1_ENST00000354325.2_Silent_p.Q259Q|TRERF1_ENST00000372917.4_Silent_p.Q259Q|TRERF1_ENST00000541110.1_Silent_p.Q259Q	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	259	Gln-rich.				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)			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)			GTTGCATGTGCTGTGACAGCA	0.582																																						uc003ose.2																			0				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.(775-777)caG>caA		Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.							64	59	61					6																	42236552		2203	4300	6503	SO:0001819	synonymous_variant	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|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236552C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.777G>A	6.37:g.42236552C>T			Somatic				TRERF1_uc011duq.1_Silent_p.Q259Q|TRERF1_uc003osb.2_Silent_p.Q98Q|TRERF1_uc003osc.2_Silent_p.Q98Q|TRERF1_uc003osd.2_Silent_p.Q259Q	p.Q259Q	NM_033502	NP_277037	WXS	Illumina GAIIx	Phase_I	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	1340	-	Colorectal(47;0.196)		259			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.777G>A	CCDS4867.1																																																																																				0.582	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		3	52	0	0	0	1	0	3	52					T	42236552	C	T	42236552	2	4	377	1	0	0	0	0	0	0	0	1	16472	796	28	2		2	TRERF1	6	42236552	Silent	SNP	C	TCGA-GE-A2C6-01A-11D-A17V-08		42236552	128878515	2	6407											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	26	0	0	0	1	0	5	26					T	140453136	A	T	140453136	3	4	377	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-GE-A2C6-01A-11D-A17V-08		140453136	18685527	3	6408											
C10orf140	387640	broad.mit.edu	37	10	21805472	21805473	+	In_Frame_Ins	INS	-	-	CCTCCT			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	80bdafd1-9062-4fec-840c-83a4f0e9ee84	g.chr10:21805472_21805473insCCTCCT	ENST00000449193.2	-	4	3531_3532	c.1279_1280insAGGAGG	c.(1279-1281)gag>gAGGAGGag	p.427_427E>EEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.348_348E>EEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	346						nucleus (GO:0005634)											GCccccctcctcctcctcttcc	0.614																																						uc009xkd.3																			0				kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						c.(1279-1281)gag>gAGGAGGag		Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.				3269,447		1507,255,96						3.2	1.0		dbSNP_132	7	4288,3500		1380,1528,986	no	coding	C10orf140	NM_207371.3		2887,1783,1082	A1A1,A1R,RR		44.9409,12.0291,34.3098				7557,3947				SO:0001652	inframe_insertion	387640					nucleus	nucleotide binding	g.chr10:21805472_21805473insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1274_1279dupAGGAGG	10.37:g.21805473_21805478dupCCTCCT	ENSP00000410041:p.GluGlu427dup		Somatic				AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Ins_p.427_427E>EEE	p.427_427E>EEE	NM_207371	NP_997254	WXS	Illumina GAIIx	Phase_I	Q1XH10	DLN1_HUMAN			3	3532_3533	-			346					B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1279_1280insAGGAGG	CCDS44363.1																																																																																				0.614	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		2	4						2	4	---	---	---	---	CCTCCT	21805473	-	CCTCCT	21805472	7	5	377	1	0	1	1	0	0	0	0	0	1595	1551	54	0	1450	0	C10orf140	10	21805472	In_Frame_Ins	INS	-	TCGA-GE-A2C6-01A-11D-A17V-08		21805472	113729275	4	6409											
RTN3	10313	broad.mit.edu	37	11	63487681	63487681	+	Silent	SNP	T	T	C			TCGA-GE-A2C6-01A-11D-A17V-08	TCGA-GE-A2C6-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51f6ca4f-fc2a-4c99-830c-e9e09c255e80	394411ff-b0f2-4e4a-b5a3-843a397d00dc	g.chr11:63487681T>C	ENST00000377819.5	+	3	1861	c.1707T>C	c.(1705-1707)ccT>ccC	p.P569P	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Silent_p.P550P|RTN3_ENST00000540798.1_Silent_p.P457P|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	569					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGATCAGCCTGATATTCTTG	0.413																																						uc001nxq.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1705-1707)ccT>ccC		Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.							75	76	76					11																	63487681		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane		g.chr11:63487681T>C	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1707T>C	11.37:g.63487681T>C			Somatic				RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.P457P|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.P550P|RTN3_uc001nxo.3_Intron	p.P569P	NM_201428	NP_958831	WXS	Illumina GAIIx	Phase_I	O95197	RTN3_HUMAN			2	1894	+			569					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.1707T>C	CCDS58141.1																																																																																				0.413	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		3	47	0	0	0	1	0	3	47					C	63487681	T	C	63487681	2	2	377	1	0	0	0	0	0	0	0	1	13727	1567	55	3		3	RTN3	11	63487681	Silent	SNP	T	TCGA-GE-A2C6-01A-11D-A17V-08		63487681	71518835	5	6410											
INTS3	65123	broad.mit.edu	37	1	153719545	153719545	+	Splice_Site	SNP	A	A	G			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr1:153719545A>G	ENST00000318967.2	+	4	999	c.431A>G	c.(430-432)cAg>cGg	p.Q144R	INTS3_ENST00000456435.1_5'UTR|INTS3_ENST00000435409.2_Splice_Site_p.Q144R|RP11-216N14.8_ENST00000453778.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	144					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCGTACTCAGGTAAGGCCA	0.463																																						uc009wom.3																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.e5+1		Homo sapiens integrator complex subunit 3 (INTS3), mRNA.							67	68	68					1																	153719545		2203	4300	6503	SO:0001630	splice_region_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding	g.chr1:153719545A>G	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.432+1A>G	1.37:g.153719545A>G			Somatic				INTS3_uc001fct.3_Splice_Site_p.Q144_splice|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR	p.Q144_splice	NM_023015	NP_075391	WXS	Illumina GAIIx	Phase_I	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	653	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		144					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Splice_Site	SNP	ENST00000318967.2	37	c.432_splice	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672040	0.88348	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.75615	2.305	0.58432	D	0.999996	P	0.48294	0.908	P	0.61397	0.888	T	0.75082	-0.3443	9	0.87932	D	0	.	12.3981	0.55397	1.0:0.0:0.0:0.0	.	144	Q68E01-2	.	R	144	.	ENSP00000318641:Q144R	Q	+	2	0	INTS3	151986169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.389000	0.90172	2.029000	0.59856	0.459000	0.35465	CAG		0.463	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015	Missense_Mutation	4	76	0	0	0	1	0	4	76					G	153719545	A	G	153719545	5	3	378	1	0	0	0	0	0	0	1	0	7779	202	7	3	445	3	INTS3	1	153719545	Splice_Site	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		153719545	95531076	1	6411											
RBM6	10180	broad.mit.edu	37	3	50005666	50005666	+	Missense_Mutation	SNP	A	A	G			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr3:50005666A>G	ENST00000266022.4	+	3	1067	c.808A>G	c.(808-810)Agg>Ggg	p.R270G	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.R138G|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	270					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCAGGATTTTAGGGGCAGAGA	0.453																																						uc003cyc.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(808-810)Agg>Ggg		Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.							76	80	78					3																	50005666		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding	g.chr3:50005666A>G	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.808A>G	3.37:g.50005666A>G	ENSP00000266022:p.Arg270Gly		Somatic				RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	p.R270G	NM_005777	NP_001161054	WXS	Illumina GAIIx	Phase_I	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	2	1056	+			270					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.808A>G	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638237	0.47153	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.36878	1.28;1.23	6.04	4.86	0.63082	.	0.056955	0.64402	D	0.000008	T	0.42899	0.1223	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	T	0.17198	-1.0377	9	.	.	.	-13.914	13.694	0.62567	0.8717:0.1283:0.0:0.0	.	270	P78332	RBM6_HUMAN	G	270;138	ENSP00000266022:R270G;ENSP00000396466:R138G	.	R	+	1	2	RBM6	49980670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.330000	0.59266	1.072000	0.40860	0.459000	0.35465	AGG		0.453	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		3	78	0	0	0	1	0	3	78					G	50005666	A	G	50005666	3	3	378	1	0	0	0	0	1	0	0	0	13144	411	15	3	814	3	RBM6	3	50005666	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		50005666	148016764	2	6412											
LAMA4	3910	broad.mit.edu	37	6	112469364	112469364	+	Missense_Mutation	SNP	T	T	A			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr6:112469364T>A	ENST00000230538.7	-	18	2745	c.2348A>T	c.(2347-2349)gAt>gTt	p.D783V	LAMA4_ENST00000424408.2_Missense_Mutation_p.D776V|LAMA4_ENST00000522006.1_Missense_Mutation_p.D776V|LAMA4_ENST00000389463.4_Missense_Mutation_p.D776V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	783	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GATACCTGCATCCCTAGCAGA	0.393																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2347-2349)gAt>gTt		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							95	91	92					6																	112469364		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112469364T>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2348A>T	6.37:g.112469364T>A	ENSP00000230538:p.Asp783Val		Somatic				LAMA4_uc003pvv.2_Missense_Mutation_p.D776V|LAMA4_uc003pvt.2_Missense_Mutation_p.D776V	p.D783V	NM_001105206	NP_001098676	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	17	2657	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	783			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2348A>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.790281	0.70337	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.18	5.18	0.71444	Laminin II (1);	0.242760	0.48767	D	0.000176	T	0.42854	0.1221	L	0.44542	1.39	0.80722	D	1	P;D	0.67145	0.82;0.996	P;P	0.62298	0.543;0.9	T	0.30031	-0.9992	10	0.40728	T	0.16	.	14.3576	0.66748	0.0:0.0:0.0:1.0	.	783;776	Q16363;Q16363-2	LAMA4_HUMAN;.	V	783;776;776;776	ENSP00000230538:D783V;ENSP00000429488:D776V;ENSP00000374114:D776V;ENSP00000416470:D776V	ENSP00000230538:D783V	D	-	2	0	LAMA4	112576057	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	3.843000	0.55865	2.164000	0.68074	0.533000	0.62120	GAT		0.393	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	40	0	0	0	1	0	17	40					A	112469364	T	A	112469364	3	1	378	1	0	0	0	0	1	0	0	0	8608	1435	50	5	3211	5	LAMA4	6	112469364	Missense_Mutation	SNP	T	TCGA-H2-A26U-01A-11D-A16O-08		112469364	58645703	3	6413											
CUX1	1523	broad.mit.edu	37	7	101847718	101847718	+	Silent	SNP	G	G	A	rs373412162		TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr7:101847718G>A	ENST00000292535.7	+	19	2993	c.2955G>A	c.(2953-2955)ccG>ccA	p.P985P	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.P996P|CUX1_ENST00000549414.2_Silent_p.P963P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.P827P|CUX1_ENST00000546411.2_Silent_p.P883P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.P929P|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	985					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGTCCCGACCGAAGCCATGGA	0.622																																						uc003uys.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2986-2988)ccG>ccA		Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.		G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	105	90	95		2988,,,,,,2955	-2.4	0.9	7		95	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	996/1517,,,,,,985/1506	101847718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101847718G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2955G>A	7.37:g.101847718G>A			Somatic				CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P985P	p.P996P	NM_001202543	NP_001189472	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			18	3115	+			985					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2988G>A	CCDS5721.1																																																																																				0.622	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		7	108	0	0	0	1	0	7	108					A	101847718	G	A	101847718	2	1	378	1	0	0	0	0	0	0	0	1	4064	1045	37	1		1	CUX1	7	101847718	Silent	SNP	G	TCGA-H2-A26U-01A-11D-A16O-08		101847718	57290945	4	6414											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	47	0	0	0	1	0	8	47					T	140453136	A	T	140453136	3	4	378	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08	38605418	140453136	18685527	5	6415											
FZD3	7976	broad.mit.edu	37	8	28409258	28409258	+	Missense_Mutation	SNP	A	A	G			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr8:28409258A>G	ENST00000240093.3	+	6	2021	c.1543A>G	c.(1543-1545)Agg>Ggg	p.R515G	FZD3_ENST00000537916.1_Missense_Mutation_p.R515G	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	515					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCATGGTCGTAGGAAAAAAGA	0.358																																						uc003xgx.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(1543-1545)Agg>Ggg		Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.							100	97	98					8																	28409258		2203	4300	6503	SO:0001583	missense	7976				G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28409258A>G	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1543A>G	8.37:g.28409258A>G	ENSP00000240093:p.Arg515Gly		Somatic				FZD3_uc010lvb.3_Missense_Mutation_p.R515G	p.R515G	NM_017412	NP_665873	WXS	Illumina GAIIx	Phase_I	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	2072	+		Ovarian(32;2.06e-05)	515					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.1543A>G	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557817	0.45590	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.81908	-1.55;-1.55	5.17	4.01	0.46588	.	0.095624	0.64402	D	0.000002	T	0.79311	0.4424	L	0.46947	1.48	0.42793	D	0.993905	B	0.22683	0.073	B	0.31101	0.124	T	0.76152	-0.3064	10	0.66056	D	0.02	.	11.4143	0.49943	0.8344:0.1656:0.0:0.0	.	515	Q9NPG1	FZD3_HUMAN	G	515	ENSP00000437489:R515G;ENSP00000240093:R515G	ENSP00000240093:R515G	R	+	1	2	FZD3	28465177	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.805000	0.55575	0.910000	0.36722	0.477000	0.44152	AGG		0.358	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		3	43	0	0	0	1	0	3	43					G	28409258	A	G	28409258	3	3	378	1	0	0	0	0	1	0	0	0	6131	411	15	3	1557	3	FZD3	8	28409258	Missense_Mutation	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		28409258	117954764	6	6416											
OR8I2	120586	broad.mit.edu	37	11	55861326	55861326	+	Silent	SNP	A	A	G			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr11:55861326A>G	ENST00000302124.2	+	1	574	c.543A>G	c.(541-543)acA>acG	p.T181T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	181						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(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGACACCACAGCTCTTTTAG	0.433																																						uc010rix.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(541-543)acA>acG		Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.							155	145	148					11																	55861326		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861326A>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.543A>G	11.37:g.55861326A>G			Somatic					p.T181T	NM_001003750	NP_001003750	WXS	Illumina GAIIx	Phase_I	Q8N0Y5	OR8I2_HUMAN			0	543	+	Esophageal squamous(21;0.00693)		181					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.543A>G	CCDS31517.1																																																																																				0.433	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	105	0	0	0	1	0	4	105					G	55861326	A	G	55861326	2	3	378	1	0	0	0	0	0	0	0	1	11240	175	7	3		3	OR8I2	11	55861326	Silent	SNP	A	TCGA-H2-A26U-01A-11D-A16O-08		55861326	79145190	7	6417											
HIF3A	64344	broad.mit.edu	37	19	46825036	46825036	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A26U-01A-11D-A16O-08	TCGA-H2-A26U-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a84193e-84f1-4729-b467-480c8b73e0e7	539571d0-752a-4bc0-ad14-71dbbe052642	g.chr19:46825036C>T	ENST00000377670.4	+	10	1179	c.1148C>T	c.(1147-1149)aCc>aTc	p.T383I	HIF3A_ENST00000472815.1_Missense_Mutation_p.T314I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T314I|HIF3A_ENST00000339613.2_Missense_Mutation_p.T327I|HIF3A_ENST00000420102.2_Missense_Mutation_p.T332I|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.T314I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T381I	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	383					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTGCAGACACCCCTGGCCCC	0.662																																						uc002peh.3																			0		p.G383C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(1147-1149)aCc>aTc		Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.							55	67	63					19																	46825036		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825036C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1148C>T	19.37:g.46825036C>T	ENSP00000366898:p.Thr383Ile		Somatic				HIF3A_uc002peg.4_Missense_Mutation_p.T383I|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.T327I|HIF3A_uc002pej.2_Missense_Mutation_p.T314I|HIF3A_uc010xxy.2_Missense_Mutation_p.T314I|HIF3A_uc002pel.3_Missense_Mutation_p.T381I|HIF3A_uc010xxz.2_Missense_Mutation_p.T332I	p.T383I	NM_152795	NP_690008	WXS	Illumina GAIIx	Phase_I	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	9	1179	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	383					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1148C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	8.665	0.901495	0.17760	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.65178	0.61;-0.14;0.48;0.61;-0.14	4.43	2.25	0.28309	.	2.786710	0.01156	N	0.006530	T	0.47619	0.1455	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B	0.20052	0.023;0.005;0.028;0.002;0.041;0.041;0.017	B;B;B;B;B;B;B	0.18561	0.02;0.004;0.022;0.004;0.01;0.01;0.006	T	0.40496	-0.9560	10	0.56958	D	0.05	.	6.1771	0.20449	0.0:0.708:0.1891:0.1029	.	332;314;381;332;327;383;383	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;.;HIF3A_HUMAN;.	I	383;383;314;327;327;381;332	ENSP00000366898:T383I;ENSP00000244303:T314I;ENSP00000341877:T327I;ENSP00000300862:T381I;ENSP00000407771:T332I	ENSP00000244302:T383I	T	+	2	0	HIF3A	51516876	0.000000	0.05858	0.058000	0.19502	0.025000	0.11179	-0.350000	0.07721	0.603000	0.29913	0.655000	0.94253	ACC		0.662	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			38	93	0	0	0	1	0	38	93					T	46825036	C	T	46825036	3	4	378	1	0	0	0	0	1	0	0	0	7105	507	18	2	1210	2	HIF3A	19	46825036	Missense_Mutation	SNP	C	TCGA-H2-A26U-01A-11D-A16O-08		46825036	12303947	8	6418											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		59	81	0	0	0	1	0	59	81					C	115256529	T	C	115256529	3	2	379	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-H2-A2K9-01A-11D-A17V-08		115256529	133994092	1	6419											
NR4A2	4929	broad.mit.edu	37	2	157182823	157182823	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr2:157182823C>T	ENST00000339562.4	-	7	1741	c.1379G>A	c.(1378-1380)gGt>gAt	p.G460D	NR4A2_ENST00000429376.1_Splice_Site|NR4A2_ENST00000426264.1_Missense_Mutation_p.G397D|NR4A2_ENST00000409108.2_Splice_Site|NR4A2_ENST00000409572.1_Missense_Mutation_p.G460D|NR4A2_ENST00000539077.1_Missense_Mutation_p.G471D	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	460					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GATGAGTTTACCCTCCACTGG	0.428																																						uc002tyz.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1378-1380)gGt>gAt		Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.							94	78	84					2																	157182823		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182823C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1379G>A	2.37:g.157182823C>T	ENSP00000344479:p.Gly460Asp		Somatic				NR4A2_uc021vri.1_Missense_Mutation_p.G435D|NR4A2_uc002tyx.4_Missense_Mutation_p.G397D|NR4A2_uc010zcf.2_Missense_Mutation_p.G460D|NR4A2_uc010zcg.1_Intron	p.G460D	NM_006186	NP_006177	WXS	Illumina GAIIx	Phase_I	P43354	NR4A2_HUMAN			6	1801	-			460					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1379G>A	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.95|14.95	2.689573|2.689573	0.48097|0.48097	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000409108;ENST00000429376|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.049685	.|0.85682	.|D	.|0.000000	.|T	.|0.20129	.|0.0484	N|N	0.02266|0.02266	-0.62|-0.62	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.11329	.|0.006	.|T	.|0.23261	.|-1.0193	.|10	.|0.02654	.|T	.|1	.|.	20.0396|20.0396	0.97574|0.97574	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|460	.|P43354	.|NR4A2_HUMAN	.|D	-1|460;397;460;471	.|ENSP00000344479:G460D;ENSP00000389986:G397D;ENSP00000386747:G460D;ENSP00000444925:G471D	.|ENSP00000344479:G460D	.|G	-|-	.|2	.|0	NR4A2|NR4A2	156891069|156891069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.050000|6.050000	0.71063|0.71063	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	.|GGT		0.428	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			23	26	0	0	0	1	0	23	26					T	157182823	C	T	157182823	3	4	379	1	0	0	0	0	1	0	0	0	10633	507	18	2	425	2	NR4A2	2	157182823	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		157182823	86016550	2	6420											
ARAP3	64411	broad.mit.edu	37	5	141041612	141041612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr5:141041612delG	ENST00000239440.4	-	20	3076	c.3011delC	c.(3010-3012)gctfs	p.A1004fs	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_Frame_Shift_Del_p.A666fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1004	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)	p.A1004V(1)		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						AGGAATACCAGCAGCCTCCCT	0.577																																						uc003llm.3																			1	Substitution - Missense(1)	p.A1004V(2)|p.A1004S(1)	large_intestine(1)	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.(3010-3012)gctfs		Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.							81	74	76					5																	141041612		2203	4300	6503	SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|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|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr5:141041612delG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3011delC	5.37:g.141041612delG	ENSP00000239440:p.Ala1004fs		Somatic				ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Frame_Shift_Del_p.A666fs|ARAP3_uc003lln.3_Intron	p.A1004fs	NM_022481	NP_071926	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			19	3089	-			1004			Rho-GAP.		B4DIT1|D3DQE3	Frame_Shift_Del	DEL	ENST00000239440.4	37	c.3011delC	CCDS4266.1																																																																																				0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		38	30						38	30	---	---	---	---	-	141041612	G	-	141041612	7	5	379	1	0	1	0	1	0	0	0	0	840	971	34	0	1679	0	ARAP3	5	141041612	Frame_Shift_Del	DEL	G	TCGA-H2-A2K9-01A-11D-A17V-08		141041612	39873648	3	6421											
PENK	5179	broad.mit.edu	37	8	57353902	57353902	+	Missense_Mutation	SNP	C	C	T	rs376111422		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:57353902C>T	ENST00000314922.3	-	2	809	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PENK_ENST00000451791.2_Missense_Mutation_p.E245K|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	245					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGCCTTCTTCGTCGGAGGGC	0.498																																						uc003xsz.2																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(733-735)Gaa>Aaa		Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	75	83	80		733,733	5.9	1.0	8		80	0,8600		0,0,4300	no	missense,missense	PENK	NM_001135690.1,NM_006211.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	245/268,245/268	57353902	1,13005	2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353902C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.733G>A	8.37:g.57353902C>T	ENSP00000324248:p.Glu245Lys		Somatic				PENK_uc003xta.3_Missense_Mutation_p.E245K	p.E245K	NM_006211	NP_006202	WXS	Illumina GAIIx	Phase_I	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		1	814	-		all_lung(136;0.229)	245					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.733G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161074	0.94727	2.27E-4	0.0	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.21191	2.02;2.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	T	0.37197	-0.9716	10	0.72032	D	0.01	-28.2524	19.2867	0.94077	0.0:1.0:0.0:0.0	.	245	P01210	PENK_HUMAN	K	245	ENSP00000324248:E245K;ENSP00000400894:E245K	ENSP00000324248:E245K	E	-	1	0	PENK	57516456	1.000000	0.71417	0.969000	0.41365	0.770000	0.43624	6.223000	0.72257	2.793000	0.96121	0.655000	0.94253	GAA		0.498	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			23	86	0	0	0	1	0	23	86					T	57353902	C	T	57353902	3	4	379	1	0	0	0	0	1	0	0	0	11727	893	31	1	74	1	PENK	8	57353902	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		57353902	89010120	4	6422											
ESRP1	54845	broad.mit.edu	37	8	95683762	95683762	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr8:95683762C>T	ENST00000433389.2	+	11	1505	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	ESRP1_ENST00000358397.5_Missense_Mutation_p.P439S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P439S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P439S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	439					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCAATTTGTGCCCCCTACAAA	0.493																																						uc003ygq.4																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1315-1317)Ccc>Tcc		Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.							119	116	117					8																	95683762		1915	4133	6048	SO:0001583	missense	54845				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683762C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1315C>T	8.37:g.95683762C>T	ENSP00000405738:p.Pro439Ser		Somatic				ESRP1_uc003ygr.4_Missense_Mutation_p.P439S|ESRP1_uc003ygs.4_Missense_Mutation_p.P439S|ESRP1_uc003ygt.4_Missense_Mutation_p.P439S|ESRP1_uc003ygu.4_Missense_Mutation_p.P439S|ESRP1_uc003ygv.3_Missense_Mutation_p.P279S|ESRP1_uc003ygw.3_Missense_Mutation_p.P279S	p.P439S	NM_017697	NP_060167	WXS	Illumina GAIIx	Phase_I	Q6NXG1	ESRP1_HUMAN			10	1498	+			439					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1315C>T	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.72|12.72	2.022577|2.022577	0.35701|0.35701	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;2.86;1.62	5.11|5.11	2.16|2.16	0.27623|0.27623	.|.	.|0.095060	.|0.85682	.|N	.|0.000000	T|T	0.24699|0.24699	0.0599|0.0599	L|L	0.40543|0.40543	1.245|1.245	0.53005|0.53005	D|D	0.999964|0.999964	.|P;B;B;B;B;B	.|0.47910	.|0.902;0.029;0.082;0.002;0.003;0.005	.|P;B;B;B;B;B	.|0.47402	.|0.546;0.087;0.061;0.011;0.025;0.04	T|T	0.08411|0.08411	-1.0723|-1.0723	5|10	.|0.08381	.|T	.|0.77	-1.6344|-1.6344	8.4027|8.4027	0.32597|0.32597	0.1252:0.7385:0.0:0.1362|0.1252:0.7385:0.0:0.1362	.|.	.|439;439;439;439;439;439	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	V|S	304|439;439;439;439;298	.|ENSP00000407349:P439S;ENSP00000405738:P439S;ENSP00000351168:P439S;ENSP00000402766:P439S;ENSP00000429125:P298S	.|ENSP00000351168:P439S	A|P	+|+	2|1	0|0	ESRP1|ESRP1	95752938|95752938	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.799000|0.799000	0.45148|0.45148	3.306000|3.306000	0.51881|0.51881	0.654000|0.654000	0.30846|0.30846	-0.793000|-0.793000	0.03317|0.03317	GCC|CCC		0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		5	64	0	0	0	1	0	5	64					T	95683762	C	T	95683762	3	4	379	1	0	0	0	0	1	0	0	0	5258	739	26	2	1357	2	ESRP1	8	95683762	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08	38329860	95683762	50680260	5	6423											
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:90296352C>T	ENST00000408954.3	+	20	2370	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					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						CCAGCAGCTCCGACCCACACA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.3																			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.(2035-2037)Cga>Tga		Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.							106	111	109					9																	90296352		1996	4187	6183	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	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.chr9:90296352C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2035C>T	9.37:g.90296352C>T	ENSP00000386135:p.Arg679*		Somatic				DAPK1_uc004apd.3_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.2_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.2_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	p.R679*	NM_004938	NP_004929	WXS	Illumina GAIIx	Phase_I	P53355	DAPK1_HUMAN			19	2173	+			679					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.2035C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	41	8.940517	0.99010	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.17	3.34	0.38264	.	0.000000	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.1402	0.25552	0.4506:0.4684:0.0:0.081	.	.	.	.	X	679	.	ENSP00000350785:R679X	R	+	1	2	DAPK1	89486172	0.848000	0.29623	0.868000	0.34077	0.941000	0.58515	1.381000	0.34362	0.782000	0.33613	0.561000	0.74099	CGA		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		63	86	0	0	0	1	0	63	86					T	90296352	C	T	90296352	4	4	379	1	0	0	0	0	0	1	0	0	4235	644	23	1	2109	1	DAPK1	9	90296352	Nonsense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		90296352	50917079	6	6424											
TBC1D2	55357	broad.mit.edu	37	9	100973003	100973003	+	Silent	SNP	G	G	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr9:100973003G>A	ENST00000375064.1	-	8	1646	c.1608C>T	c.(1606-1608)gtC>gtT	p.V536V	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Silent_p.V536V|TBC1D2_ENST00000342112.5_Silent_p.V318V|TBC1D2_ENST00000375063.1_Silent_p.V76V	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	536					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTGCCTCCTGGACAAGCTGCC	0.637																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1606-1608)gtC>gtT		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							28	22	24					9																	100973003		2201	4300	6501	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100973003G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1608C>T	9.37:g.100973003G>A			Somatic				TBC1D2_uc004ayp.3_Silent_p.V76V|TBC1D2_uc004ayq.3_Silent_p.V536V|TBC1D2_uc004ayr.3_Silent_p.V318V	p.V536V	NM_018421	NP_060891	WXS	Illumina GAIIx	Phase_I	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	7	1788	-		Myeloproliferative disorder(762;0.0255)	536					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.1608C>T																																																																																					0.637	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		4	3	0	0	0	1	0	4	3					A	100973003	G	A	100973003	2	1	379	1	0	0	0	0	0	0	0	1	15605	1161	41	2		2	TBC1D2	9	100973003	Silent	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08	10676651	100973003	40240428	7	6425											
CST6	1474	broad.mit.edu	37	11	65780827	65780827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr11:65780827C>T	ENST00000312134.2	+	3	610	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	136					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			large_intestine(1)|lung(1)|ovary(1)	3						GGTTCCCTGGCAGAACTCCTC	0.582																																						uc001ogr.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(406-408)Cag>Tag		Homo sapiens cystatin E/M (CST6), mRNA.							198	155	169					11																	65780827		2201	4296	6497	SO:0001587	stop_gained	1474				anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr11:65780827C>T	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.406C>T	11.37:g.65780827C>T	ENSP00000311313:p.Gln136*		Somatic				CST6_uc001ogs.1_3'UTR	p.Q136*	NM_001323	NP_001314	WXS	Illumina GAIIx	Phase_I	Q15828	CYTM_HUMAN			2	460	+			136					Q540N7	Nonsense_Mutation	SNP	ENST00000312134.2	37	c.406C>T	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922217	0.33908	.	.	ENSG00000175315	ENST00000312134	.	.	.	4.95	-9.91	0.00458	.	1.052600	0.07467	N	0.901664	.	.	.	.	.	.	0.48975	D	0.999733	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-1.7483	12.1629	0.54113	0.6458:0.1037:0.2505:0.0	.	.	.	.	X	136	.	ENSP00000311313:Q136X	Q	+	1	0	CST6	65537403	0.007000	0.16637	0.453000	0.27007	0.115000	0.19883	-2.605000	0.00889	-1.794000	0.01256	-1.036000	0.02392	CAG		0.582	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		8	85	0	0	0	1	0	8	85					T	65780827	C	T	65780827	4	4	379	1	0	0	0	0	0	1	0	0	3976	711	25	2	416	2	CST6	11	65780827	Nonsense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		65780827	69225689	8	6426											
ANO2	57101	broad.mit.edu	37	12	5916525	5916525	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr12:5916525G>C	ENST00000356134.5	-	9	964	c.893C>G	c.(892-894)tCt>tGt	p.S298C	ANO2_ENST00000327087.8_Missense_Mutation_p.S297C|ANO2_ENST00000546188.1_Missense_Mutation_p.S298C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	302					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGCGATCAGAGAGTTAATACC	0.403																																						uc001qnm.2																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(889-891)tCt>tGt		Homo sapiens anoctamin 2 (ANO2), mRNA.							73	73	73					12																	5916525		1870	4047	5917	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5916525G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.893C>G	12.37:g.5916525G>C	ENSP00000348453:p.Ser298Cys		Somatic					p.S297C	NM_020373	NP_065106	WXS	Illumina GAIIx	Phase_I	Q9NQ90	ANO2_HUMAN			7	962	-			302					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.890C>G		.	.	.	.	.	.	.	.	.	.	G	16.99	3.274128	0.59649	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66815	-0.23;-0.23;-0.23	5.48	5.48	0.80851	.	0.051025	0.85682	D	0.000000	D	0.82268	0.5000	M	0.78223	2.4	0.39753	D	0.971913	D	0.76494	0.999	D	0.70016	0.967	D	0.84574	0.0657	10	0.62326	D	0.03	.	18.3418	0.90308	0.0:0.0:1.0:0.0	.	297	Q9NQ90-3	.	C	297;298;298;302	ENSP00000314048:S297C;ENSP00000348453:S298C;ENSP00000440981:S298C	ENSP00000314048:S297C	S	-	2	0	ANO2	5786786	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.928000	0.63447	2.567000	0.86603	0.557000	0.71058	TCT		0.403	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	3	0	0	0	1	0	4	3					C	5916525	G	C	5916525	3	2	379	1	0	0	0	0	1	0	0	0	697	942	33	4	2182	4	ANO2	12	5916525	Missense_Mutation	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08		5916525	127935370	9	6427											
CATSPERB	79820	broad.mit.edu	37	14	92126274	92126274	+	Missense_Mutation	SNP	G	G	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr14:92126274G>C	ENST00000256343.3	-	15	1495	c.1339C>G	c.(1339-1341)Cat>Gat	p.H447D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	447					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATATCATCATGAAAGTTAGCT	0.353																																						uc001xzs.1																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1339-1341)Cat>Gat		Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.							79	80	80					14																	92126274		2203	4299	6502	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92126274G>C	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1339C>G	14.37:g.92126274G>C	ENSP00000256343:p.His447Asp		Somatic				CATSPERB_uc010aub.1_Intron	p.H447D	NM_024764	NP_079040	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			14	1479	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	447					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1339C>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	4.006	-0.001622	0.07819	.	.	ENSG00000133962	ENST00000256343	T	0.40476	1.03	4.76	-0.727	0.11166	.	0.917922	0.09102	N	0.848402	T	0.24547	0.0595	L	0.47716	1.5	0.09310	N	1	B	0.32160	0.358	B	0.25140	0.058	T	0.19451	-1.0305	10	0.09084	T	0.74	-4.1208	2.2113	0.03948	0.1612:0.2877:0.4044:0.1468	.	447	Q9H7T0	CTSRB_HUMAN	D	447	ENSP00000256343:H447D	ENSP00000256343:H447D	H	-	1	0	CATSPERB	91196027	0.000000	0.05858	0.076000	0.20297	0.095000	0.18619	-0.611000	0.05622	-0.045000	0.13468	-0.324000	0.08512	CAT		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	70	0	0	0	1	0	3	70					C	92126274	G	C	92126274	3	2	379	1	0	0	0	0	1	0	0	0	2691	1290	45	4	2063	4	CATSPERB	14	92126274	Missense_Mutation	SNP	G	TCGA-H2-A2K9-01A-11D-A17V-08		92126274	15223266	10	6428											
DMXL2	23312	broad.mit.edu	37	15	51837864	51837864	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr15:51837864C>A	ENST00000251076.5	-	8	1133	c.846G>T	c.(844-846)caG>caT	p.Q282H	DMXL2_ENST00000449909.3_Missense_Mutation_p.Q282H|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q282H|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	282						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)		TCTCACAAATCTGCTCACCCA	0.433																																						uc010ufy.2																			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.(844-846)caG>caT		Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.							147	146	147					15																	51837864		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51837864C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.846G>T	15.37:g.51837864C>A	ENSP00000251076:p.Gln282His		Somatic				DMXL2_uc002abf.3_Missense_Mutation_p.Q282H|DMXL2_uc010bfa.3_Missense_Mutation_p.Q282H	p.Q282H	NM_001174116	NP_001167587	WXS	Illumina GAIIx	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	7	1071	-			282					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.846G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331001	0.24167	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.25912	1.92;1.92;1.77	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.49350	1.555	0.27029	N	0.964278	D;D;P	0.67145	0.983;0.996;0.94	P;D;P	0.75484	0.807;0.986;0.726	T	0.24404	-1.0161	10	0.29301	T	0.29	.	11.3189	0.49410	0.0:0.8612:0.0:0.1388	.	282;282;282	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	H	282	ENSP00000251076:Q282H;ENSP00000441858:Q282H;ENSP00000400855:Q282H	ENSP00000251076:Q282H	Q	-	3	2	DMXL2	49625156	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.079000	0.50104	1.529000	0.49120	0.655000	0.94253	CAG		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		63	48	0	0	0	1	0	63	48					A	51837864	C	A	51837864	3	1	379	1	0	0	0	0	1	0	0	0	4595	912	32	4	8411	4	DMXL2	15	51837864	Missense_Mutation	SNP	C	TCGA-H2-A2K9-01A-11D-A17V-08		51837864	50693528	11	6429											
MYCBPAP	84073	broad.mit.edu	37	17	48596401	48596401	+	Missense_Mutation	SNP	A	A	T			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr17:48596401A>T	ENST00000323776.5	+	6	1010	c.848A>T	c.(847-849)gAg>gTg	p.E283V	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E246V	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)			CGGATCCAGGAGGAGCGGGAG	0.602																																						uc010wmr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(847-849)gAg>gTg		Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.							72	70	71					17																	48596401		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48596401A>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.848A>T	17.37:g.48596401A>T	ENSP00000323184:p.Glu283Val		Somatic				MYCBPAP_uc002iqz.3_Non-coding_Transcript	p.E283V	NM_032133	NP_115509	WXS	Illumina GAIIx	Phase_I	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		5	1010	+	Breast(11;1.23e-18)		246						Missense_Mutation	SNP	ENST00000323776.5	37	c.848A>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678664	0.68042	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T;T	0.51574	0.7;0.7;0.7	5.65	5.65	0.86999	.	0.121721	0.56097	D	0.000022	T	0.70316	0.3210	M	0.81497	2.545	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74870	-0.3517	10	0.87932	D	0	-39.5536	14.7339	0.69402	1.0:0.0:0.0:0.0	.	246;283	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	V	283;298;246	ENSP00000323184:E283V;ENSP00000407145:E298V;ENSP00000397209:E246V	ENSP00000323184:E283V	E	+	2	0	MYCBPAP	45951400	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	5.922000	0.70036	2.276000	0.75962	0.460000	0.39030	GAG		0.602	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		26	38	0	0	0	1	0	26	38					T	48596401	A	T	48596401	3	4	379	1	0	0	0	0	1	0	0	0	10019	304	11	5	870	5	MYCBPAP	17	48596401	Missense_Mutation	SNP	A	TCGA-H2-A2K9-01A-11D-A17V-08		48596401	32598809	12	6430											
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C	rs372004761		TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr19:50315885T>C	ENST00000313777.4	-	2	383	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G|FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	74					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572																																						uc002ppq.2																			0				endometrium(1)|lung(3)	4						c.(220-222)Agc>Ggc		Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.		T	,GLY/SER	1,4405	2.1+/-5.4	0,1,2202	112	97	102		,220	5.3	1.0	19		102	0,8600		0,0,4300	no	intron,missense	FUZ	NM_001171937.1,NM_025129.4	,56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,benign	,74/419	50315885	1,13005	2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50315885T>C	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.220A>G	19.37:g.50315885T>C	ENSP00000313309:p.Ser74Gly		Somatic				FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Intron|FUZ_uc010ybd.2_Missense_Mutation_p.S74G	p.S74G	NM_025129	NP_079405	WXS	Illumina GAIIx	Phase_I	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	1	424	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	74					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.220A>G	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014385	0.35511	2.27E-4	0.0	ENSG00000010361	ENST00000525130;ENST00000533418;ENST00000529634;ENST00000525370;ENST00000313777;ENST00000445575;ENST00000529004;ENST00000421740;ENST00000526575	T;T;T;T;T;T	0.64438	-0.1;-0.08;-0.1;-0.08;-0.09;-0.1	5.26	5.26	0.73747	.	0.417706	0.26231	N	0.025569	T	0.46405	0.1391	L	0.29908	0.895	0.19575	N	0.999963	B;B	0.28291	0.206;0.199	B;B	0.28011	0.085;0.076	T	0.32719	-0.9896	10	0.27082	T	0.32	-6.1751	7.9252	0.29870	0.0:0.0923:0.0:0.9077	.	74;74	B4DHF8;Q9BT04	.;FUZZY_HUMAN	G	74;24;74;74;74;74;24;74;74	ENSP00000433492:S74G;ENSP00000431731:S24G;ENSP00000431420:S74G;ENSP00000313309:S74G;ENSP00000408018:S74G;ENSP00000433164:S74G	ENSP00000313309:S74G	S	-	1	0	FUZ	55007697	0.995000	0.38212	1.000000	0.80357	0.976000	0.68499	3.432000	0.52824	2.012000	0.59069	0.374000	0.22700	AGC		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		3	62	0	0	0	1	0	3	62					C	50315885	T	C	50315885	3	2	379	1	0	0	0	0	1	0	0	0	6112	1609	56	3	1076	3	FUZ	19	50315885	Missense_Mutation	SNP	T	TCGA-H2-A2K9-01A-11D-A17V-08		50315885	8813098	13	6431											
PKDREJ	10343	broad.mit.edu	37	22	46653016	46653016	+	Nonsense_Mutation	SNP	A	A	C			TCGA-H2-A2K9-01A-11D-A17V-08	TCGA-H2-A2K9-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40507884-f752-4b6f-897d-3596bbba94cd	c000393d-a685-4e79-94bc-87176343d388	g.chr22:46653016A>C	ENST00000253255.5	-	1	6203	c.6204T>G	c.(6202-6204)taT>taG	p.Y2068*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2068					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGAATCTGGAATACCTGAGGG	0.463																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6202-6204)taT>taG		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							49	53	52					22																	46653016		2203	4300	6503	SO:0001587	stop_gained	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653016A>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6204T>G	22.37:g.46653016A>C	ENSP00000253255:p.Tyr2068*		Somatic					p.Y2068*	NM_006071	NP_006062	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	6204	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2068					B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	c.6204T>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	46	12.261193	0.99651	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.88	1.44	0.22558	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9877	8.1521	0.31148	0.685:0.0:0.315:0.0	.	.	.	.	X	2068	.	ENSP00000253255:Y2068X	Y	-	3	2	PKDREJ	45031680	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	1.478000	0.35442	0.142000	0.18901	0.455000	0.32223	TAT		0.463	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		12	16	0	0	0	1	0	12	16					C	46653016	A	C	46653016	4	2	379	1	0	0	0	0	0	1	0	0	11970	108	4	5	561	5	PKDREJ	22	46653016	Nonsense_Mutation	SNP	A	TCGA-H2-A2K9-01A-11D-A17V-08		46653016	4651550	14	6432											
SMARCAL1	50485	broad.mit.edu	37	2	217332707	217332707	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr2:217332707T>C	ENST00000357276.4	+	14	2512	c.2182T>C	c.(2182-2184)Ttt>Ctt	p.F728L	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.F728L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	728	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAGAGAGAAGTTTTTAGTATT	0.393									Schimke Immuno-Osseous Dysplasia																													uc002vgc.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42						c.(2182-2184)Ttt>Ctt		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.							181	174	176					2																	217332707		2203	4300	6503	SO:0001583	missense	50485	Schimke Immuno-Osseous Dysplasia	Familial Cancer Database	SIOD	DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217332707T>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2182T>C	2.37:g.217332707T>C	ENSP00000349823:p.Phe728Leu		Somatic				SMARCAL1_uc002vgd.4_Missense_Mutation_p.F728L|SMARCAL1_uc010fvg.3_Missense_Mutation_p.F706L	p.F728L	NM_014140	NP_054859	WXS	Illumina GAIIx	Phase_I	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	13	2512	+		Renal(323;0.0458)	728			Helicase C-terminal.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.2182T>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488933	0.44249	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;T	0.91945	-2.94;-2.94;-0.88	4.76	3.59	0.41128	Helicase, C-terminal (1);	0.051708	0.85682	D	0.000000	D	0.84737	0.5538	N	0.25426	0.745	0.49213	D	0.999767	B	0.18166	0.026	B	0.15484	0.013	T	0.80679	-0.1275	10	0.37606	T	0.19	-14.7973	9.6911	0.40129	0.0:0.0941:0.0:0.9059	.	728	Q9NZC9	SMAL1_HUMAN	L	728;728;570	ENSP00000349823:F728L;ENSP00000350940:F728L;ENSP00000375974:F570L	ENSP00000349823:F728L	F	+	1	0	SMARCAL1	217040952	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.614000	0.67695	2.001000	0.58596	0.533000	0.62120	TTT		0.393	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			4	106	0	0	0	1	0	4	106					C	217332707	T	C	217332707	3	2	380	1	0	0	0	0	1	0	0	0	14773	1725	60	3	2228	3	SMARCAL1	2	217332707	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08		217332707	25866666	1	6433											
GRM4	2914	broad.mit.edu	37	6	34003992	34003992	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:34003992C>T	ENST00000538487.2	-	9	2338	c.1895G>A	c.(1894-1896)gGc>gAc	p.G632D	GRM4_ENST00000609222.1_Missense_Mutation_p.G499D|GRM4_ENST00000374177.3_Missense_Mutation_p.G516D|GRM4_ENST00000374181.4_Missense_Mutation_p.G632D|GRM4_ENST00000535756.1_Missense_Mutation_p.G499D|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.G492D|GRM4_ENST00000544773.2_Missense_Mutation_p.G463D	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	632					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGGAAGATGCCTGCCAGCAG	0.597																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)gGc>gAc		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						96	82	87					6																	34003992		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003992C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1895G>A	6.37:g.34003992C>T	ENSP00000440556:p.Gly632Asp		Somatic				GRM4_uc011dsn.2_Missense_Mutation_p.G585D|GRM4_uc010jvh.3_Missense_Mutation_p.G632D|GRM4_uc010jvi.3_Missense_Mutation_p.G324D|GRM4_uc003oio.3_Missense_Mutation_p.G324D|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.G492D|GRM4_uc003oiq.3_Missense_Mutation_p.G499D|GRM4_uc011dsm.2_Missense_Mutation_p.G463D	p.G632D	NM_000841	NP_000832	WXS	Illumina GAIIx	Phase_I	Q14833	GRM4_HUMAN			7	2258	-			632					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1895G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531017	0.85706	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	M	0.91510	3.215	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	0.995;0.995;1.0;1.0;0.998	D	0.96791	0.9582	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	585;463;492;632;499	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	D	632;516;324;499;463;632;492	ENSP00000363296:G632D;ENSP00000363292:G516D;ENSP00000445533:G324D;ENSP00000437925:G499D;ENSP00000437730:G463D;ENSP00000440556:G632D;ENSP00000398456:G492D	ENSP00000363292:G516D	G	-	2	0	GRM4	34111970	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	GGC		0.597	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			3	44	0	0	0	1	0	3	44					T	34003992	C	T	34003992	3	4	380	1	0	0	0	0	1	0	0	0	6799	739	26	2	855	2	GRM4	6	34003992	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		34003992	137111075	2	6434											
PHF3	23469	broad.mit.edu	37	6	64394725	64394725	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:64394725G>A	ENST00000262043.3	+	4	1442	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PHF3_ENST00000393387.1_Missense_Mutation_p.D368N|PHF3_ENST00000509330.1_Missense_Mutation_p.D368N			Q92576	PHF3_HUMAN	PHD finger protein 3	368					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)			TAGTTGTGTAGATGAAGTGAC	0.373																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			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.(1102-1104)Gat>Aat		Homo sapiens PHD finger protein 3 (PHF3), mRNA.							72	73	73					6																	64394725		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394725G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1102G>A	6.37:g.64394725G>A	ENSP00000262043:p.Asp368Asn		Somatic				PHF3_uc010kaf.1_Missense_Mutation_p.D368N|PHF3_uc003pem.2_Missense_Mutation_p.D321N|PHF3_uc010kag.1_Missense_Mutation_p.D280N|PHF3_uc010kah.1_Missense_Mutation_p.D182N|PHF3_uc003pen.2_Missense_Mutation_p.D280N|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.D368N	p.D368N	NM_015153	NP_055968	WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		2	1127	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		368					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1102G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	6.099	0.386482	0.11524	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.48201	2.21;1.81;2.17;1.82;0.82;2.17	5.65	3.83	0.44106	.	0.472444	0.15725	N	0.247713	T	0.21509	0.0518	L	0.47716	1.5	0.22066	N	0.999387	B;B	0.12013	0.001;0.005	B;B	0.11329	0.001;0.006	T	0.23261	-1.0193	10	0.52906	T	0.07	-3.3833	9.5452	0.39277	0.2296:0.0:0.7704:0.0	.	368;368	Q92576;D6R9X2	PHF3_HUMAN;.	N	182;280;368;321;368;368	ENSP00000424694:D182N;ENSP00000425227:D280N;ENSP00000262043:D368N;ENSP00000424078:D321N;ENSP00000422841:D368N;ENSP00000377048:D368N	ENSP00000262043:D368N	D	+	1	0	PHF3	64452684	0.998000	0.40836	0.748000	0.31131	0.563000	0.35712	1.152000	0.31663	0.698000	0.31739	0.591000	0.81541	GAT		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			32	67	0	0	0	1	0	32	67					A	64394725	G	A	64394725	3	1	380	1	0	0	0	0	1	0	0	0	11836	942	33	2	1112	2	PHF3	6	64394725	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08	30390733	64394725	106720342	3	6435											
EEF1A1	1915	broad.mit.edu	37	6	74228155	74228158	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr6:74228155_74228158delGACA	ENST00000316292.9	-	5	1939_1942	c.948_951delTGTC	c.(946-951)tctgtcfs	p.SV316fs	EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.SV316fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	316					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAACATCCTTGACAGACACATTCT	0.446											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(946-951)tctgtcfs		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.																																				SO:0001589	frameshift_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228155_74228158delGACA	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.948_951delTGTC	6.37:g.74228159_74228162delGACA	ENSP00000339063:p.Ser316fs		Somatic	OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Frame_Shift_Del_p.S316fs|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_Non-coding_Transcript	p.S316fs	NM_001402	NP_001393	WXS	Illumina GAIIx	Phase_I	P68104	EF1A1_HUMAN			4	1940_1943	-			316					P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	ENST00000316292.9	37	c.948_951delTGTC	CCDS4980.1																																																																																				0.446	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		35	43						35	43	---	---	---	---	-	74228158	GACA	-	74228155	7	5	380	1	0	1	0	1	0	0	0	0	4923	1277	45	0	449	0	EEF1A1	6	74228155	Frame_Shift_Del	DEL	GACA	TCGA-H2-A3RH-01A-11D-A21Z-08	9833430	74228155	96886912	4	6436											
IQCE	23288	broad.mit.edu	37	7	2613074	2613074	+	Silent	SNP	C	C	A	rs372351268		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:2613074C>A	ENST00000402050.2	+	6	601	c.417C>A	c.(415-417)gtC>gtA	p.V139V	IQCE_ENST00000325979.7_Silent_p.V74V|IQCE_ENST00000404984.1_Silent_p.V88V|IQCE_ENST00000438376.2_Silent_p.V123V	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	139						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGACTCCTGTCTACAGAGAAA	0.348																																						uc003sml.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(415-417)gtC>gtA		Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.							153	140	144					7																	2613074		1849	4085	5934	SO:0001819	synonymous_variant	23288							g.chr7:2613074C>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.417C>A	7.37:g.2613074C>A			Somatic				IQCE_uc010ksm.1_Silent_p.V139V|IQCE_uc011jvy.1_Silent_p.V123V|IQCE_uc011jvz.1_Silent_p.V74V|IQCE_uc003smo.4_Silent_p.V139V|IQCE_uc003smk.4_Silent_p.V123V|IQCE_uc003smn.4_Silent_p.V74V	p.V139V	NM_152558	NP_689771	WXS	Illumina GAIIx	Phase_I	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	5	601	+		Ovarian(82;0.0112)	139					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	c.417C>A	CCDS43542.1																																																																																				0.348	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		3	53	0	0	0	1	0	3	53					A	2613074	C	A	2613074	2	1	380	1	0	0	0	0	0	0	0	1	7806	900	32	4		4	IQCE	7	2613074	Silent	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		2613074	156525589	5	6437											
FAM71F1	84691	broad.mit.edu	37	7	128359074	128359074	+	Silent	SNP	T	T	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr7:128359074T>A	ENST00000315184.5	+	3	677	c.624T>A	c.(622-624)ccT>ccA	p.P208P	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.P109P	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	208										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAAAGACCCTAGGATTCTTG	0.532																																						uc003vno.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(622-624)ccT>ccA		Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.							131	119	123					7																	128359074		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128359074T>A	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.624T>A	7.37:g.128359074T>A			Somatic				FAM71F1_uc010llo.1_Silent_p.P109P|FAM71F1_uc011koq.1_Silent_p.P100P|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Silent_p.P109P|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P208P	p.P208P	NM_032599	NP_115988	WXS	Illumina GAIIx	Phase_I	Q96KD3	F71F1_HUMAN			2	677	+			208					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.624T>A	CCDS5804.1																																																																																				0.532	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		69	85	0	0	0	1	0	69	85					A	128359074	T	A	128359074	2	1	380	1	0	0	0	0	0	0	0	1	5612	1509	53	5		5	FAM71F1	7	128359074	Silent	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	125746000	128359074	30779589	6	6438											
ANK1	286	broad.mit.edu	37	8	41530362	41530362	+	Missense_Mutation	SNP	G	G	A	rs146416859	byFrequency	TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr8:41530362G>A	ENST00000347528.4	-	38	4689	c.4606C>T	c.(4606-4608)Cgt>Tgt	p.R1536C	ANK1_ENST00000289734.7_Missense_Mutation_p.R1536C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536C|ANK1_ENST00000396942.1_Missense_Mutation_p.R1536C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1577C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1536	55 kDa regulatory domain.				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)			TGGTCTGCACGTAGCGGAGAG	0.607																																						uc003xom.3																			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.(4729-4731)Cgt>Tgt		Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,	0,4406		0,0,2203	37	37	37		4606,4729,4606,4606,	4.3	1.0	8	dbSNP_134	37	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense,missense,missense,intron	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	180,180,180,180,	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	benign,benign,benign,benign,	1536/1881,1577/1898,1536/1857,1536/1882,	41530362	11,12995	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.chr8:41530362G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4606C>T	8.37:g.41530362G>A	ENSP00000339620:p.Arg1536Cys		Somatic				NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.R1536C|ANK1_uc003xoj.3_Missense_Mutation_p.R1536C|ANK1_uc003xok.3_Missense_Mutation_p.R1536C|ANK1_uc003xol.3_Intron	p.R1577C	NM_001142446	NP_001135918	WXS	Illumina GAIIx	Phase_I	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)		38	5011	-	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)	1536			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4729C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138218	0.37728	0.0	0.001279	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.19;-0.18;-0.19;-0.17;-0.21	5.24	4.35	0.52113	.	0.200040	0.43416	N	0.000572	T	0.49098	0.1537	N	0.16478	0.41	0.47547	D	0.999455	B;B;B;B	0.15930	0.011;0.015;0.006;0.011	B;B;B;B	0.15870	0.006;0.014;0.005;0.006	T	0.43734	-0.9373	10	0.42905	T	0.14	.	10.776	0.46350	0.0896:0.0:0.9104:0.0	.	1577;1536;1536;1536	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	C	1536;1536;1536;1536;1536;1536;1577	ENSP00000339620:R1536C;ENSP00000289734:R1536C;ENSP00000369082:R1536C;ENSP00000380149:R1536C;ENSP00000380147:R1536C;ENSP00000309131:R1536C;ENSP00000265709:R1577C	ENSP00000265709:R1577C	R	-	1	0	ANK1	41649519	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.821000	0.39041	1.336000	0.45506	0.552000	0.68991	CGT		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	19	0	0	0	1	0	11	19					A	41530362	G	A	41530362	3	1	380	1	0	0	0	0	1	0	0	0	620	1145	40	1	1385	1	ANK1	8	41530362	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		41530362	104833660	7	6439											
DLG5	9231	broad.mit.edu	37	10	79595529	79595529	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr10:79595529C>A	ENST00000372391.2	-	8	1594	c.1589G>T	c.(1588-1590)cGa>cTa	p.R530L	DLG5_ENST00000372388.2_Missense_Mutation_p.R530L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	530					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AATCTTGTCTCGCTCCTGGAA	0.622																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1588-1590)cGa>cTa		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							78	61	67					10																	79595529		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79595529C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1589G>T	10.37:g.79595529C>A	ENSP00000361467:p.Arg530Leu		Somatic				DLG5_uc001jzj.3_Missense_Mutation_p.R285L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.R134L	p.R530L	NM_004747	NP_004738	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		7	1659	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		530					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1589G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042193	0.93685	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.10960	2.82;2.88	5.8	4.9	0.64082	.	0.236203	0.22123	N	0.064314	T	0.32041	0.0816	M	0.69358	2.11	0.39852	D	0.973251	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.998;0.909	T	0.09378	-1.0677	10	0.66056	D	0.02	.	15.0675	0.72008	0.0:0.932:0.0:0.068	.	420;530;530	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	L	530	ENSP00000361467:R530L;ENSP00000361464:R530L	ENSP00000361464:R530L	R	-	2	0	DLG5	79265535	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.487000	0.81328	1.451000	0.47736	0.655000	0.94253	CGA		0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			19	22	0	0	0	1	0	19	22					A	79595529	C	A	79595529	3	1	380	1	0	0	0	0	1	0	0	0	4558	884	31	4	4270	4	DLG5	10	79595529	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		79595529	55939218	8	6440											
OR8K5	219453	broad.mit.edu	37	11	55926983	55926983	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:55926983C>A	ENST00000313447.1	-	1	810	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCATTTTATCAGTATCAAAG	0.398																																						uc010rja.2																			0		p.T270N(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(811-813)Gat>Tat		Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.							107	92	97					11																	55926983		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926983C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.811G>T	11.37:g.55926983C>A	ENSP00000323853:p.Asp271Tyr		Somatic					p.D271Y	NM_001004058	NP_001004058	WXS	Illumina GAIIx	Phase_I	Q8NH50	OR8K5_HUMAN			0	811	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	271					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.811G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766908	0.49574	.	.	ENSG00000181752	ENST00000313447	T	0.00256	8.42	3.98	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.00637	0.0021	H	0.95004	3.61	0.30106	N	0.806987	D	0.89917	1.0	D	0.79784	0.993	T	0.04440	-1.0951	10	0.87932	D	0	.	5.3734	0.16152	0.0:0.7683:0.0:0.2317	.	271	Q8NH50	OR8K5_HUMAN	Y	271	ENSP00000323853:D271Y	ENSP00000323853:D271Y	D	-	1	0	OR8K5	55683559	0.000000	0.05858	0.982000	0.44146	0.860000	0.49131	-0.342000	0.07801	2.202000	0.70862	0.465000	0.42564	GAT		0.398	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		3	72	0	0	0	1	0	3	72					A	55926983	C	A	55926983	3	1	380	1	0	0	0	0	1	0	0	0	11245	826	29	4	115	4	OR8K5	11	55926983	Missense_Mutation	SNP	C	TCGA-H2-A3RH-01A-11D-A21Z-08		55926983	79079533	9	6441											
FLI1	2313	broad.mit.edu	37	11	128680730	128680730	+	Silent	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr11:128680730T>C	ENST00000527786.2	+	9	1695	c.1206T>C	c.(1204-1206)ccT>ccC	p.P402P	FLI1_ENST00000534087.2_Silent_p.P369P|FLI1_ENST00000525560.1_Silent_p.P209P|FLI1_ENST00000281428.8_Silent_p.P336P|FLI1_ENST00000344954.6_Silent_p.P369P	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	402					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACTTTGTCCCTCCCCATCCAT	0.567			T	EWSR1	Ewing sarcoma																																	uc010sbu.2				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(1204-1206)ccT>ccC		Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.							107	112	110					11																	128680730		2131	4222	6353	SO:0001819	synonymous_variant	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680730T>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1206T>C	11.37:g.128680730T>C			Somatic				FLI1_uc010sbt.2_Silent_p.P209P|FLI1_uc010sbv.2_Silent_p.P369P|FLI1_uc009zci.3_Silent_p.P336P	p.P402P	NM_002017	NP_001161153	WXS	Illumina GAIIx	Phase_I	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	8	1549	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	402					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.1206T>C	CCDS44768.1																																																																																				0.567	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	64	0	0	0	1	0	3	64					C	128680730	T	C	128680730	2	2	380	1	0	0	0	0	0	0	0	1	5924	1538	54	3		3	FLI1	11	128680730	Silent	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08	72753747	128680730	6325786	10	6442											
KRAS	3845	broad.mit.edu	37	12	25380277	25380278	+	Missense_Mutation	DNP	GA	GA	TT	rs121913238|rs397517037		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr12:25380277_25380278GA>TT	ENST00000256078.4	-	3	243_244	c.180_181TC>AA	c.(178-183)ggTCaa>ggAAaa	p.Q61K	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(32)|p.Q61E(10)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTGT	0.411	Q61K(CALU6_LUNG)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	Q61K(CALU6_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	43	Substitution - Missense(42)|Substitution - coding silent(1)	p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(3)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(178-183)ggtcaa>ggAAaa		Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.																																				SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380277_25380278GA>TT	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.180_181delinsTT	12.37:g.25380277_25380278delinsTT	ENSP00000256078:p.Gln61Lys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_uc001rgq.1_Missense_Mutation_p.Q61K	p.Q61K	NM_033360	NP_203524	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	361_362	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	DNP	ENST00000256078.4	37	c.180_181TC>AA	CCDS8703.1																																																																																				0.411	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		24	47	0	0	0	1	0	24	47					TT	25380278	GA	TT	25380277	3	4	380	1	0	0	0	0	1	0	0	0	8438	1299	45	4	521	4	KRAS	12	25380277	Missense_Mutation	DNP	GA	TCGA-H2-A3RH-01A-11D-A21Z-08		25380277	108471618	11	6443											
SERPINE3	647174	broad.mit.edu	37	13	51915403	51915403	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr13:51915403T>C	ENST00000521255.1	+	1	236	c.176T>C	c.(175-177)cTc>cCc	p.L59P	SERPINE3_ENST00000400389.4_Missense_Mutation_p.L59P|SERPINE3_ENST00000524365.1_Missense_Mutation_p.L59P	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	59					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						GGTGTGTCCCTCCCCCTGGAG	0.557																																						uc001vfh.2																			0				ovary(2)	2						c.(175-177)cTc>cCc		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.							77	82	80					13																	51915403		2137	4249	6386	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915403T>C	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.176T>C	13.37:g.51915403T>C	ENSP00000428316:p.Leu59Pro		Somatic				SERPINE3_uc010tgp.2_Missense_Mutation_p.L59P	p.L59P	NM_001101320	NP_001094790	WXS	Illumina GAIIx	Phase_I	A8MV23	SERP3_HUMAN			0	236	+			59					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.176T>C	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711835	0.48517	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.24723	1.84;1.84;1.84	4.15	4.15	0.48705	Serpin domain (3);	0.546002	0.14503	U	0.315613	T	0.42698	0.1214	L	0.56769	1.78	0.29037	N	0.885346	D;D	0.67145	0.995;0.996	P;D	0.66979	0.865;0.948	T	0.23726	-1.0180	10	0.52906	T	0.07	.	8.9806	0.35964	0.0:0.0:0.1868:0.8132	.	59;59	A8MV23-2;A8MV23	.;SERP3_HUMAN	P	59	ENSP00000430755:L59P;ENSP00000428316:L59P;ENSP00000441468:L59P	ENSP00000441468:L59P	L	+	2	0	SERPINE3	50813404	0.113000	0.22115	0.002000	0.10522	0.001000	0.01503	3.066000	0.50002	1.749000	0.51849	0.533000	0.62120	CTC		0.557	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	51	0	0	0	1	0	3	51					C	51915403	T	C	51915403	3	2	380	1	0	0	0	0	1	0	0	0	14113	1551	54	3	178	3	SERPINE3	13	51915403	Missense_Mutation	SNP	T	TCGA-H2-A3RH-01A-11D-A21Z-08		51915403	63254475	12	6444											
TUBG1	7283	broad.mit.edu	37	17	40762598	40762599	+	Missense_Mutation	DNP	GA	GA	CG			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:40762598_40762599GA>CG	ENST00000251413.3	+	3	382_383	c.320_321GA>CG	c.(319-321)gGA>gCG	p.G107A	FAM134C_ENST00000585894.1_5'UTR|FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	107					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TGGGCCAGCGGATTCTCCCAGG	0.569																																					Colon(20;114 698 11420 22864)	uc002ian.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(319-321)gga>gCG		Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.																																				SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40762598_40762599GA>CG	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		Exception_encountered	17.37:g.40762598_40762599delinsCG	ENSP00000251413:p.Gly107Ala		Somatic				FAM134C_uc002ial.2_5'Flank|FAM134C_uc010wgq.1_5'Flank|FAM134C_uc002iam.1_5'Flank|FAM134C_uc010cyk.1_5'UTR	p.G107A	NM_001070	NP_001061	WXS	Illumina GAIIx	Phase_I	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	2	718_719	+		Breast(137;0.00116)	107					Q53X79|Q9BW59	Missense_Mutation	DNP	ENST00000251413.3	37	c.320_321GA>CG	CCDS11433.1																																																																																				0.569	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		8	78	0	0	0	1	0	8	78					CG	40762599	GA	CG	40762598	3	2	380	1	0	0	0	0	1	0	0	0	16761	1174	41	4	330	4	TUBG1	17	40762598	Missense_Mutation	DNP	GA	TCGA-H2-A3RH-01A-11D-A21Z-08		40762598	40432612	13	6445											
MRPL10	124995	broad.mit.edu	37	17	45904011	45904011	+	Missense_Mutation	SNP	G	G	A	rs372584381		TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr17:45904011G>A	ENST00000351111.2	-	4	529	c.524C>T	c.(523-525)cCg>cTg	p.P175L	MRPL10_ENST00000414011.1_Missense_Mutation_p.P185L|MRPL10_ENST00000290208.7_Missense_Mutation_p.P185L	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	175					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						ACCTAGCAGCGGCAGGAATGG	0.557																																						uc002ily.3																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(553-555)cCg>cTg		Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	70	66	68		524,554	5.6	1.0	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MRPL10	NM_145255.3,NM_148887.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	175/262,185/272	45904011	1,13005	2203	4300	6503	SO:0001583	missense	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904011G>A	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.524C>T	17.37:g.45904011G>A	ENSP00000324100:p.Pro175Leu		Somatic				MRPL10_uc002ilz.3_Missense_Mutation_p.P175L|MRPL10_uc010wky.2_Missense_Mutation_p.P136L	p.P185L	NM_148887	NP_683685	WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			4	652	-			175					A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	c.554C>T	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500159	0.26861	0.0	1.16E-4	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.39229	1.09;1.09;1.09	5.62	5.62	0.85841	.	0.332161	0.37809	N	0.001926	T	0.38852	0.1056	M	0.63843	1.955	0.44562	D	0.997527	B;B	0.13594	0.003;0.008	B;B	0.06405	0.002;0.002	T	0.17077	-1.0381	10	0.28530	T	0.3	-4.5819	10.6399	0.45586	0.0873:0.0:0.9127:0.0	.	175;185	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	175;185;185	ENSP00000324100:P175L;ENSP00000290208:P185L;ENSP00000395870:P185L	ENSP00000290208:P185L	P	-	2	0	MRPL10	43259010	0.182000	0.23173	0.966000	0.40874	0.541000	0.35023	1.218000	0.32467	2.657000	0.90304	0.561000	0.74099	CCG		0.557	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	119	0	0	0	1	0	7	119					A	45904011	G	A	45904011	3	1	380	1	0	0	0	0	1	0	0	0	9775	1116	39	1	269	1	MRPL10	17	45904011	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08	5141413	45904011	35291199	14	6446											
GRAMD1A	57655	broad.mit.edu	37	19	35500211	35500211	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RH-01A-11D-A21Z-08	TCGA-H2-A3RH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e76ddf7f-bf62-4428-8f38-301ea24157f6	10dd44e4-375e-47c0-b545-60c6dc0d1920	g.chr19:35500211G>A	ENST00000317991.5	+	2	389	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R153Q|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	66						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAGGCAGCCGGAACTTCATC	0.637																																						uc010xsf.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(211-213)cGg>cAg		Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.							41	49	46					19																	35500211		1967	4135	6102	SO:0001583	missense	57655					integral to membrane		g.chr19:35500211G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.197G>A	19.37:g.35500211G>A	ENSP00000441032:p.Arg66Gln		Somatic				GRAMD1A_uc002nxi.1_Missense_Mutation_p.R153Q|GRAMD1A_uc010xse.1_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R66Q|GRAMD1A_uc002nxl.2_5'UTR	p.R71Q	NM_020895	NP_065946	WXS	Illumina GAIIx	Phase_I	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		1	212	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		66					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.212G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919022	0.92249	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.25749	1.81;1.78	4.67	4.67	0.58626	.	0.184638	0.37577	N	0.002038	T	0.38532	0.1044	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.97	D;P;P;P	0.78314	0.991;0.733;0.897;0.705	T	0.15037	-1.0451	10	0.51188	T	0.08	.	15.1055	0.72319	0.0:0.0:1.0:0.0	.	66;66;66;153	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	Q	153;66;66	ENSP00000441032:R66Q;ENSP00000439267:R66Q	ENSP00000441032:R66Q	R	+	2	0	GRAMD1A	40192051	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.093000	0.64517	2.426000	0.82243	0.561000	0.74099	CGG		0.637	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		3	69	0	0	0	1	0	3	69					A	35500211	G	A	35500211	3	1	380	1	0	0	0	0	1	0	0	0	6747	1116	39	1	203	1	GRAMD1A	19	35500211	Missense_Mutation	SNP	G	TCGA-H2-A3RH-01A-11D-A21Z-08		35500211	23628772	15	6447											
AOX1	316	broad.mit.edu	37	2	201485429	201485429	+	Silent	SNP	G	G	C			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr2:201485429G>C	ENST00000374700.2	+	17	2002	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	587					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)	TCATGCATCTGTCTGGTGTGA	0.443																																						uc002uvx.3																			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.(1759-1761)ctG>ctC		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						114	98	103					2																	201485429		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	g.chr2:201485429G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1761G>C	2.37:g.201485429G>C			Somatic				AOX1_uc010zhf.2_Silent_p.L143L|AOX1_uc010fsu.3_Intron	p.L587L	NM_001159	NP_001150	WXS	Illumina GAIIx	Phase_I	Q06278	ADO_HUMAN			16	1862	+			587					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1761G>C	CCDS33360.1																																																																																				0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	97	0	0	0	1	0	4	97					C	201485429	G	C	201485429	2	2	381	1	0	0	0	0	0	0	0	1	729	1364	48	4		4	AOX1	2	201485429	Silent	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		201485429	41713944	1	6448											
NOP16	51491	broad.mit.edu	37	5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A	rs376625530		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr5:175815258G>A	ENST00000389158.5	-	2	629	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_ENST00000507413.1_Intron|HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	65						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587																																						uc003mee.3																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(193-195)gCg>gTg		Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.		G	VAL/ALA	0,4046		0,0,2023	66	73	71		194	4.3	1.0	5		71	1,8319		0,1,4159	no	missense	NOP16	NM_016391.4	64	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	65/179	175815258	1,12365	2023	4160	6183	SO:0001583	missense	51491					nucleolus		g.chr5:175815258G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.194C>T	5.37:g.175815258G>A	ENSP00000373810:p.Ala65Val		Somatic				NOP16_uc003med.3_Missense_Mutation_p.A65V|NOP16_uc011dfl.2_Missense_Mutation_p.A65V|NOP16_uc011dfm.1_Missense_Mutation_p.A65V|HIGD2A_uc003meg.3_5'Flank	p.A65V			WXS	Illumina GAIIx	Phase_I	Q9Y3C1	NOP16_HUMAN			1	194	-			65					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.194C>T	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759365	0.69763	0.0	1.2E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000451293;ENST00000509257	.	.	.	5.21	4.34	0.51931	.	.	.	.	.	T	0.58736	0.2143	M	0.68728	2.09	0.49483	D	0.999791	P;B;D;P	0.57571	0.634;0.068;0.98;0.916	B;B;P;B	0.47673	0.154;0.021;0.554;0.387	T	0.58014	-0.7711	8	0.15952	T	0.53	.	13.6261	0.62165	0.0739:0.0:0.926:0.0	.	65;65;65;65	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	V	65	.	ENSP00000373810:A65V	A	-	2	0	NOP16	175747864	1.000000	0.71417	0.992000	0.48379	0.362000	0.29581	4.299000	0.59073	1.437000	0.47472	0.561000	0.74099	GCG		0.587	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	114	0	0	0	1	0	4	114					A	175815258	G	A	175815258	3	1	381	1	0	0	0	0	1	0	0	0	10537	1087	38	1	357	1	NOP16	5	175815258	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		175815258	5100002	2	6449											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		43	70	0	0	0	1	0	43	70					T	140453136	A	T	140453136	3	4	381	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A3RI-01A-11D-A21Z-08		140453136	18685527	3	6450											
PIWIL2	55124	broad.mit.edu	37	8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr8:22138985G>A	ENST00000454009.2	+	4	891	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A128T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	128					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488																																						uc003xbn.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(382-384)Gct>Act		Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.							100	105	103					8																	22138985		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138985G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.382G>A	8.37:g.22138985G>A	ENSP00000406956:p.Ala128Thr		Somatic				PIWIL2_uc011kzf.1_Missense_Mutation_p.A128T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A128T	p.A128T	NM_018068	NP_060538	WXS	Illumina GAIIx	Phase_I	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	3	530	+			128					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.382G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979314	0.53827	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05258	3.48;3.47;3.48	5.55	3.76	0.43208	.	0.266613	0.31709	N	0.007190	T	0.04679	0.0127	L	0.29908	0.895	0.30162	N	0.802054	B;B	0.24258	0.1;0.1	B;B	0.18561	0.022;0.022	T	0.28839	-1.0031	10	0.20519	T	0.43	.	8.2168	0.31516	0.0805:0.0:0.7637:0.1558	.	128;128	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	128	ENSP00000349208:A128T;ENSP00000428267:A128T;ENSP00000406956:A128T	ENSP00000349208:A128T	A	+	1	0	PIWIL2	22194930	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.688000	0.46984	0.718000	0.32166	0.561000	0.74099	GCT		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	130	0	0	0	1	0	4	130					A	22138985	G	A	22138985	3	1	381	1	0	0	0	0	1	0	0	0	11958	1203	42	2	392	2	PIWIL2	8	22138985	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		22138985	124225037	4	6451											
KIAA1797	54914	broad.mit.edu	37	9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr9:20982426G>A	ENST00000380249.1	+	41	5073	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1570						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GATGCCAATCGGATCGCCCAG	0.353																																						uc003zog.1																			0											c.(4708-4710)cGg>cAg		Homo sapiens KIAA1797 (KIAA1797), mRNA.							127	133	131					9																	20982426		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20982426G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4709G>A	9.37:g.20982426G>A	ENSP00000369599:p.Arg1570Gln		Somatic				FOCAD_uc003zoh.1_Missense_Mutation_p.R1006Q	p.R1570Q	NM_017794	NP_060264	WXS	Illumina GAIIx	Phase_I	Q5VW36	K1797_HUMAN			40	5072	+			1570					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4709G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428263	0.25726	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18960	2.18;2.18	5.83	3.8	0.43715	.	0.061048	0.64402	N	0.000004	T	0.16085	0.0387	L	0.43701	1.375	0.21499	N	0.999665	B	0.22541	0.071	B	0.17098	0.017	T	0.22417	-1.0217	10	0.22706	T	0.39	-28.0448	8.5708	0.33567	0.2557:0.0:0.7443:0.0	.	1570	Q5VW36	K1797_HUMAN	Q	1570	ENSP00000369599:R1570Q;ENSP00000344307:R1570Q	ENSP00000344307:R1570Q	R	+	2	0	KIAA1797	20972426	0.631000	0.27164	0.005000	0.12908	0.562000	0.35680	2.675000	0.46875	0.670000	0.31165	0.561000	0.74099	CGG		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		3	91	0	0	0	1	0	3	91					A	20982426	G	A	20982426	3	1	381	1	0	0	0	0	1	0	0	0	8258	1116	39	1	4859	1	KIAA1797	9	20982426	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		20982426	120231005	5	6452											
UNC5B	219699	broad.mit.edu	37	10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:73055692G>A	ENST00000335350.6	+	14	2716	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	767	UPA domain. {ECO:0000250}.				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)				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						GCCCATTGGAGGAGCAAGCTG	0.632																																						uc001jro.3																			0				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.(2299-2301)aGg>aAg		Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.							100	83	89					10																	73055692		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055692G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2300G>A	10.37:g.73055692G>A	ENSP00000334329:p.Arg767Lys		Somatic				UNC5B_uc001jrp.3_Missense_Mutation_p.R756K	p.R767K	NM_170744	NP_734465	WXS	Illumina GAIIx	Phase_I	Q8IZJ1	UNC5B_HUMAN			13	2751	+			767					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2300G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243225	0.22796	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.96;0.9	5.01	3.16	0.36331	.	0.051724	0.85682	N	0.000000	T	0.27559	0.0677	L	0.28274	0.84	0.52501	D	0.99995	B;B	0.33549	0.417;0.293	B;B	0.36719	0.231;0.116	T	0.02743	-1.1116	10	0.08599	T	0.76	-18.0092	10.734	0.46113	0.1542:0.0:0.8458:0.0	.	756;767	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	K	767;756	ENSP00000334329:R767K;ENSP00000362288:R756K	ENSP00000334329:R767K	R	+	2	0	UNC5B	72725698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	0.520000	0.28426	0.579000	0.79373	AGG		0.632	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	111	0	0	0	1	0	3	111					A	73055692	G	A	73055692	3	1	381	1	0	0	0	0	1	0	0	0	16989	1000	35	2	2354	2	UNC5B	10	73055692	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		73055692	62479055	6	6453											
SEC23IP	11196	broad.mit.edu	37	10	121658138	121658138	+	Silent	SNP	T	T	C	rs1063732		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:121658138T>C	ENST00000369075.3	+	2	435	c.363T>C	c.(361-363)ccT>ccC	p.P121P	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	121	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCTCTCCCTTTTACAACTG	0.473																																						uc001leu.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(361-363)ccT>ccC		Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.							166	141	149					10																	121658138		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding	g.chr10:121658138T>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.363T>C	10.37:g.121658138T>C			Somatic				SEC23IP_uc010qtc.2_Intron	p.P121P	NM_007190	NP_009121	WXS	Illumina GAIIx	Phase_I	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	1	573	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	121			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.363T>C	CCDS7618.1																																																																																				0.473	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			4	173	0	0	0	1	0	4	173					C	121658138	T	C	121658138	2	2	381	1	0	0	0	0	0	0	0	1	13993	1596	56	3		3	SEC23IP	10	121658138	Silent	SNP	T	TCGA-H2-A3RI-01A-11D-A21Z-08	48602446	121658138	13876609	7	6454											
ITGAD	3681	broad.mit.edu	37	16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	rs139794241	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr16:31425789G>A	ENST00000389202.2	+	17	2063	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	672					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443																																						uc010cap.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2017-2019)Gtc>Atc		Homo sapiens integrin, alpha D (ITGAD), mRNA.							156	168	164					16																	31425789		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425789G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2014G>A	16.37:g.31425789G>A	ENSP00000373854:p.Val672Ile		Somatic				ITGAD_uc002ebv.1_Missense_Mutation_p.V672I	p.V673I	NM_005353	NP_005344	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			16	2066	+			672					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2017G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.694	0.312574	0.10789	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.43294	0.95	4.7	0.387	0.16259	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	M	0.64997	1.995	0.21064	N	0.999792	B;B	0.13594	0.008;0.008	B;B	0.27076	0.076;0.076	T	0.37641	-0.9697	9	0.25751	T	0.34	.	7.2475	0.26129	0.3859:0.0:0.6141:0.0	.	688;672	Q59H14;Q13349	.;ITAD_HUMAN	I	688;672	ENSP00000373854:V672I	ENSP00000373854:V672I	V	+	1	0	ITGAD	31333290	0.001000	0.12720	0.193000	0.23327	0.220000	0.24768	0.031000	0.13710	-0.145000	0.11294	-0.357000	0.07601	GTC		0.443	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	273	0	0	0	1	0	6	273					A	31425789	G	A	31425789	3	1	381	1	0	0	0	0	1	0	0	0	7884	1377	48	2	2080	2	ITGAD	16	31425789	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		31425789	58928964	8	6455											
DNAH9	1770	broad.mit.edu	37	17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr17:11872791G>A	ENST00000262442.4	+	69	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_ENST00000608377.1_Missense_Mutation_p.E782K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4470					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13408-13410)Gaa>Aaa		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							52	47	49					17																	11872791		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872791G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13408G>A	17.37:g.11872791G>A	ENSP00000262442:p.Glu4470Lys		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.E3688K|DNAH9_uc002gnf.3_Missense_Mutation_p.E782K	p.E4470K	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13476	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4470					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13408G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492475	0.84962	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08807	3.05;3.05;3.05	5.43	4.47	0.54385	Dynein heavy chain (1);	0.327716	0.35349	N	0.003276	T	0.20820	0.0501	L	0.42008	1.315	0.58432	D	0.999997	D	0.58620	0.983	D	0.66351	0.943	T	0.00967	-1.1497	10	0.44086	T	0.13	.	16.5588	0.84534	0.0:0.1304:0.8696:0.0	.	4470	Q9NYC9	DYH9_HUMAN	K	4470;4394;2976;782	ENSP00000262442:E4470K;ENSP00000414874:E4394K;ENSP00000379323:E782K	ENSP00000262442:E4470K	E	+	1	0	DNAH9	11813516	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	6.068000	0.71201	1.529000	0.49120	-0.127000	0.14921	GAA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	44	0	0	0	1	0	4	44					A	11872791	G	A	11872791	3	1	381	1	0	0	0	0	1	0	0	0	4608	1175	41	2	13682	2	DNAH9	17	11872791	Missense_Mutation	SNP	G	TCGA-H2-A3RI-01A-11D-A21Z-08		11872791	69322419	9	6456											
CYB5A	1528	broad.mit.edu	37	18	71930661	71930661	+	Missense_Mutation	SNP	C	C	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr18:71930661C>G	ENST00000340533.4	-	2	321	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CYB5A_ENST00000494131.2_Missense_Mutation_p.E61Q|CYB5A_ENST00000397914.4_Missense_Mutation_p.E61Q|CYB5A_ENST00000299438.9_5'UTR|CYB5A_ENST00000579064.1_5'Flank	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	61	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				hydrogen ion transmembrane transport (GO:1902600)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	aldo-keto reductase (NADP) activity (GO:0004033)|cytochrome-c oxidase activity (GO:0004129)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)				TCAAAGTTCTCAGTAGCGTCA	0.443																																					NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)	uc002lli.3																			0				kidney(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(181-183)Gag>Cag		Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	Methoxyflurane(DB01028)						122	112	115					18																	71930661		2203	4300	6503	SO:0001583	missense	1528				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding	g.chr18:71930661C>G	M22865	CCDS12004.1, CCDS12005.1, CCDS54188.1	18q23	2006-01-30	2006-01-30	2006-01-30	ENSG00000166347	ENSG00000166347		"Cytochrome b genes"	2570	protein-coding gene	gene with protein product		613218	"cytochrome b-5", "cytochrome b5 (microsomal)"	CYB5		1840560	Standard	NM_148923		Approved		uc002lli.3	P00167	OTTHUMG00000132843	ENST00000340533.4:c.181G>C	18.37:g.71930661C>G	ENSP00000341625:p.Glu61Gln		Somatic				CYB5A_uc021ull.1_Missense_Mutation_p.E61Q|CYB5A_uc002llh.3_Missense_Mutation_p.E61Q	p.E61Q	NM_148923	NP_683725	WXS	Illumina GAIIx	Phase_I	P00167	CYB5_HUMAN			1	322	-		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)	61			Cytochrome b5 heme-binding.		A8MV91|F8WEU4|Q6IB14	Missense_Mutation	SNP	ENST00000340533.4	37	c.181G>C	CCDS12004.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578675	0.86645	.	.	ENSG00000166347	ENST00000397914;ENST00000340533;ENST00000299438	T;T	0.81415	-1.49;-1.49	5.79	5.79	0.91817	Cytochrome b5 (5);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.918;0.999	D	0.91751	0.5412	10	0.72032	D	0.01	-2.1308	18.8188	0.92088	0.0:1.0:0.0:0.0	.	61;61	P00167;P00167-2	CYB5_HUMAN;.	Q	61	ENSP00000381011:E61Q;ENSP00000341625:E61Q	ENSP00000299438:E61Q	E	-	1	0	CYB5A	70081641	1.000000	0.71417	0.559000	0.28332	0.804000	0.45430	7.070000	0.76763	2.722000	0.93159	0.655000	0.94253	GAG		0.443	CYB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256316.1	NM_001914, NM_148923		3	143	0	0	0	1	0	3	143					G	71930661	C	G	71930661	3	3	381	1	0	0	0	0	1	0	0	0	4122	835	29	4	252	4	CYB5A	18	71930661	Missense_Mutation	SNP	C	TCGA-H2-A3RI-01A-11D-A21Z-08		71930661	6146587	10	6457											
MEGF8	1954	broad.mit.edu	37	19	42848949	42848949	+	Silent	SNP	C	C	T			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:42848949C>T	ENST00000251268.6	+	12	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_ENST00000334370.4_Silent_p.T687T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	687					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)				ACTTGCTCACCTTTCAGCAGC	0.617																																						uc002otl.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.(2059-2061)acC>acT		Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.							71	70	71					19																	42848949		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848949C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2061C>T	19.37:g.42848949C>T			Somatic				MEGF8_uc002otm.4_Silent_p.T228T	p.T687T	NM_001410	NP_001401	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			11	2696	+		Prostate(69;0.00682)	755					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2061C>T																																																																																					0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	110	0	0	0	1	0	4	110					T	42848949	C	T	42848949	2	4	381	1	0	0	0	0	0	0	0	1	9463	668	24	2		2	MEGF8	19	42848949	Silent	SNP	C	TCGA-H2-A3RI-01A-11D-A21Z-08		42848949	16280034	11	6458											
ZNF432	9668	broad.mit.edu	37	19	52537330	52537330	+	Silent	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:52537330A>G	ENST00000594154.1	-	5	1814	c.1602T>C	c.(1600-1602)acT>acC	p.T534T	ZNF432_ENST00000221315.5_Silent_p.T534T			O94892	ZN432_HUMAN	zinc finger protein 432	534					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCCAGTATGAGTTCGCTGGT	0.398																																						uc002pyk.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(1600-1602)acT>acC		Homo sapiens zinc finger protein 432 (ZNF432), mRNA.							105	97	100					19																	52537330		2203	4300	6503	SO:0001819	synonymous_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537330A>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1602T>C	19.37:g.52537330A>G			Somatic					p.T534T	NM_014650	NP_055465	WXS	Illumina GAIIx	Phase_I	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	1920	-		all_neural(266;0.117)	534						Silent	SNP	ENST00000594154.1	37	c.1602T>C	CCDS12848.1																																																																																				0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		3	147	0	0	0	1	0	3	147					G	52537330	A	G	52537330	2	3	381	1	0	0	0	0	0	0	0	1	17903	291	11	3		3	ZNF432	19	52537330	Silent	SNP	A	TCGA-H2-A3RI-01A-11D-A21Z-08	9688381	52537330	6591653	12	6459											
ADNP	23394	broad.mit.edu	37	20	49508575	49508575	+	Silent	SNP	A	A	G	rs200301628		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr20:49508575A>G	ENST00000396029.3	-	5	3243	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	ADNP_ENST00000371602.4_Silent_p.P892P|ADNP_ENST00000396032.3_Silent_p.P892P|ADNP_ENST00000349014.3_Silent_p.P892P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	892					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAGGGTCAAAAGGGCTACCAC	0.408																																						uc002xvt.1																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2674-2676)ccT>ccC		Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.							141	143	142					20																	49508575		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508575A>G	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2676T>C	20.37:g.49508575A>G			Somatic				ADNP_uc002xvu.1_Silent_p.P892P	p.P892P	NM_015339	NP_852107	WXS	Illumina GAIIx	Phase_I	Q9H2P0	ADNP_HUMAN			4	3021	-			892					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.2676T>C	CCDS13433.1																																																																																				0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		3	196	0	0	0	1	0	3	196					G	49508575	A	G	49508575	2	3	381	1	0	0	0	0	0	0	0	1	323	59	3	3		3	ADNP	20	49508575	Silent	SNP	A	TCGA-H2-A3RI-01A-11D-A21Z-08		49508575	13516945	13	6460											
RYR2	6262	broad.mit.edu	37	1	237993860	237993860	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr1:237993860G>A	ENST00000366574.2	+	103	15003	c.14686G>A	c.(14686-14688)Gat>Aat	p.D4896N	RYR2_ENST00000360064.6_Missense_Mutation_p.D4902N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4880N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4896					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)			GATAGGCAATGATTACTTCGA	0.423																																						uc001hyl.1																			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.(14686-14688)Gat>Aat		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							222	207	212					1																	237993860		1957	4158	6115	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.chr1:237993860G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14686G>A	1.37:g.237993860G>A	ENSP00000355533:p.Asp4896Asn		Somatic				RYR2_uc010pyb.1_Intron	p.D4896N	NM_001035	NP_001026	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		102	14806	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4896					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14686G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.811127	0.96975	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96885	-4.16;-4.13;-4.16	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000005	D	0.96411	0.8829	L	0.55990	1.75	0.80722	D	1	D	0.56968	0.978	P	0.50825	0.651	D	0.96804	0.9591	10	0.87932	D	0	-18.4137	19.4432	0.94831	0.0:0.0:1.0:0.0	.	4896	Q92736	RYR2_HUMAN	N	4896;4902;4880	ENSP00000355533:D4896N;ENSP00000353174:D4902N;ENSP00000443798:D4880N	ENSP00000353174:D4902N	D	+	1	0	RYR2	236060483	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.809000	0.99208	2.578000	0.87016	0.655000	0.94253	GAT		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	176	0	0	0	1	0	18	176					A	237993860	G	A	237993860	3	1	382	1	0	0	0	0	1	0	0	0	13769	1290	45	2	15096	2	RYR2	1	237993860	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		237993860	11256761	1	6461											
PLA2R1	22925	broad.mit.edu	37	2	160798656	160798656	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr2:160798656C>T	ENST00000283243.7	-	29	4365	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1387					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGCAGCGCCTCTGCAGTGTGA	0.299																																						uc002ube.2																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4159-4161)Gag>Aag		Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.							48	53	51					2																	160798656		2202	4300	6502	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160798656C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4159G>A	2.37:g.160798656C>T	ENSP00000283243:p.Glu1387Lys		Somatic				PLA2R1_uc010zcp.2_Missense_Mutation_p.E1385K	p.E1387K	NM_007366	NP_031392	WXS	Illumina GAIIx	Phase_I	Q13018	PLA2R_HUMAN			28	4371	-			1387					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4159G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.463623	0.01062	.	.	ENSG00000153246	ENST00000283243	T	0.06218	3.33	5.89	3.49	0.39957	.	0.857935	0.10467	N	0.671256	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46569	-0.9182	10	0.07030	T	0.85	.	7.3477	0.26672	0.0:0.0755:0.1562:0.7682	.	1385;1387	B7ZML4;Q13018	.;PLA2R_HUMAN	K	1387	ENSP00000283243:E1387K	ENSP00000283243:E1387K	E	-	1	0	PLA2R1	160506902	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.557000	0.23454	0.455000	0.26910	-0.302000	0.09304	GAG		0.299	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			7	65	0	0	0	1	0	7	65					T	160798656	C	T	160798656	3	4	382	1	0	0	0	0	1	0	0	0	12010	922	32	2	240	2	PLA2R1	2	160798656	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		160798656	82400717	2	6462											
LRIG1	26018	broad.mit.edu	37	3	66434551	66434551	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:66434551C>T	ENST00000273261.3	-	14	2459	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	LRIG1_ENST00000383703.3_Intron|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	645	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCATGCGTCGCTCACGGGCAG	0.567																																						uc003dmx.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1933-1935)gaG>gaA		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.							130	117	122					3																	66434551		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66434551C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1935G>A	3.37:g.66434551C>T			Somatic				SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Silent_p.E265E|LRIG1_uc003dmw.3_Silent_p.E311E|LRIG1_uc010hnz.3_Silent_p.E361E|LRIG1_uc010hoa.3_Intron	p.E645E	NM_015541	NP_056356	WXS	Illumina GAIIx	Phase_I	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	13	1949	-		Lung NSC(201;0.0101)	645			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1935G>A	CCDS33783.1																																																																																				0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		11	176	0	0	0	1	0	11	176					T	66434551	C	T	66434551	2	4	382	1	0	0	0	0	0	0	0	1	8944	796	28	2		2	LRIG1	3	66434551	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		66434551	131587879	3	6463											
HPS3	84343	broad.mit.edu	37	3	148889914	148889914	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:148889914C>T	ENST00000296051.2	+	17	3060	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	HPS3_ENST00000460120.1_Silent_p.L809L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	974					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGAACTAGAACTGAAGGATTT	0.343									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2920-2922)Ctg>Ttg		Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.							113	109	110					3																	148889914		2202	4300	6502	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148889914C>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2920C>T	3.37:g.148889914C>T			Somatic				CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Silent_p.L809L|HPS3_uc003ewv.1_Non-coding_Transcript	p.L974L	NM_032383	NP_115759	WXS	Illumina GAIIx	Phase_I	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3060	+			974					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.2920C>T	CCDS3140.1																																																																																				0.343	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		20	51	0	0	0	1	0	20	51					T	148889914	C	T	148889914	2	4	382	1	0	0	0	0	0	0	0	1	7340	564	20	2		2	HPS3	3	148889914	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	82455363	148889914	49132516	4	6464											
THBS4	7060	broad.mit.edu	37	5	79354580	79354580	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:79354580C>T	ENST00000350881.2	+	5	889	c.699C>T	c.(697-699)ctC>ctT	p.L233L	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.L142L	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	233					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAACCAACTCCTGGGAGAGG	0.483																																						uc021yaw.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(697-699)ctC>ctT		Homo sapiens thrombospondin 4 (THBS4), mRNA.							67	68	68					5																	79354580		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79354580C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.699C>T	5.37:g.79354580C>T			Somatic					p.L233L	NM_003248	NP_003239	WXS	Illumina GAIIx	Phase_I	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	4	890	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	233					B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.699C>T	CCDS4049.1																																																																																				0.483	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			5	66	0	0	0	1	0	5	66					T	79354580	C	T	79354580	2	4	382	1	0	0	0	0	0	0	0	1	15853	842	30	2		2	THBS4	5	79354580	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		79354580	101560680	5	6465											
HTR4	3360	broad.mit.edu	37	5	147863844	147863844	+	Intron	SNP	G	G	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:147863844G>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000360693.3_Missense_Mutation_p.T392N|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521735.1_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	cttccttgcagtcaaacatcT	0.413																																					GBM(120;370 1604 14007 17804 41573)	uc021yfj.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1174-1176)aCt>aAt		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						90	89	89					5																	147863844		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863844G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-988C>A	5.37:g.147863844G>T			Somatic				HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	p.T392N	NM_001040173	NP_001035263	WXS	Illumina GAIIx	Phase_I	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1222	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.1175C>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452818	0.12283	.	.	ENSG00000164270	ENST00000360693	T	0.71341	-0.56	2.91	-1.81	0.07882	.	5.600410	0.00166	N	0.000011	T	0.53738	0.1815	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.19666	0.026	T	0.25710	-1.0124	9	0.30078	T	0.28	.	3.7885	0.08710	0.5509:0.21:0.2391:0.0	.	392	Q712M9	.	N	392	ENSP00000353915:T392N	ENSP00000353915:T392N	T	-	2	0	HTR4	147844037	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.133000	0.03232	-0.427000	0.07350	-0.142000	0.14014	ACT		0.413	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		11	38	0	0	0	1	0	11	38					T	147863844	G	T	147863844	1	4	382	0	1	0	0	0	0	0	0	0	7449	1029	36	4		4	HTR4	5	147863844	Intron	SNP	G	TCGA-H2-A421-01A-11D-A23M-08	68509264	147863844	33051416	6	6466											
FLT4	2324	broad.mit.edu	37	5	180048157	180048157	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:180048157C>T	ENST00000261937.6	-	14	2194	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	FLT4_ENST00000393347.3_Missense_Mutation_p.A706T|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A706T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	706	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGCTGGGCGCGTGCGCTCCG	0.667																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0		p.A706E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2116-2118)Gcg>Acg		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						32	33	32					5																	180048157		2202	4296	6498	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048157C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2116G>A	5.37:g.180048157C>T	ENSP00000261937:p.Ala706Thr		Somatic				FLT4_uc003mma.4_Missense_Mutation_p.A706T|FLT4_uc003mmb.1_Missense_Mutation_p.A239T|FLT4_uc011dgy.2_Missense_Mutation_p.A706T	p.A706T	NM_182925	NP_891555	WXS	Illumina GAIIx	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2195	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	706			Ig-like C2-type 7.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2116G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702414	0.15172	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.66099	-0.19;-0.19;-0.19	4.4	0.481	0.16809	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28797	0.0714	N	0.10733	0.035	0.09310	N	1	P;B;B;B	0.41524	0.753;0.007;0.003;0.003	B;B;B;B	0.26770	0.073;0.021;0.008;0.008	T	0.15925	-1.0420	9	0.10377	T	0.69	.	8.5473	0.33429	0.0:0.5083:0.0:0.4917	.	706;516;706;706	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	T	706;706;706;516	ENSP00000261937:A706T;ENSP00000377016:A706T;ENSP00000426057:A706T	ENSP00000261937:A706T	A	-	1	0	FLT4	179980763	0.001000	0.12720	0.199000	0.23439	0.917000	0.54804	0.104000	0.15313	0.093000	0.17368	0.462000	0.41574	GCG		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			7	80	0	0	0	1	0	7	80					T	180048157	C	T	180048157	3	4	382	1	0	0	0	0	1	0	0	0	5944	768	27	1	2051	1	FLT4	5	180048157	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	32184313	180048157	867103	7	6467											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	71	0	0	0	1	0	34	71					T	140453136	A	T	140453136	3	4	382	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		140453136	18685527	8	6468											
NSMAF	8439	broad.mit.edu	37	8	59511805	59511805	+	Missense_Mutation	SNP	A	A	C			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr8:59511805A>C	ENST00000038176.3	-	19	1783	c.1571T>G	c.(1570-1572)gTt>gGt	p.V524G	NSMAF_ENST00000427130.2_Missense_Mutation_p.V555G|NSMAF_ENST00000519858.1_5'Flank	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	524	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGGGCCCCAACTGCATCACT	0.338																																						uc011lee.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1663-1665)gTt>gGt		Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.							162	154	157					8																	59511805		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59511805A>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1571T>G	8.37:g.59511805A>C	ENSP00000038176:p.Val524Gly		Somatic				NSMAF_uc003xtt.3_Missense_Mutation_p.V524G	p.V555G	NM_001144772	NP_001138244	WXS	Illumina GAIIx	Phase_I	Q92636	FAN_HUMAN			18	1725	-		all_lung(136;0.174)|Lung NSC(129;0.2)	524			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1664T>G	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922480	0.33908	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	BEACH domain (4);	0.449133	0.24447	N	0.038454	D	0.84629	0.5514	M	0.94021	3.485	0.37183	D	0.9036	P;P	0.49862	0.929;0.758	P;P	0.57204	0.815;0.713	D	0.90197	0.4254	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	555;524	Q92636-2;Q92636	.;FAN_HUMAN	G	524;555	ENSP00000038176:V524G;ENSP00000411012:V555G	.	V	-	2	0	NSMAF	59674359	0.977000	0.34250	0.040000	0.18447	0.002000	0.02628	7.412000	0.80091	2.371000	0.80710	0.533000	0.62120	GTT		0.338	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		24	192	0	0	0	1	0	24	192					C	59511805	A	C	59511805	3	2	382	1	0	0	0	0	1	0	0	0	10674	43	2	5	1234	5	NSMAF	8	59511805	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		59511805	86852217	9	6469											
PCDH15	65217	broad.mit.edu	37	10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A	rs572629527		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:55587219G>A	ENST00000320301.6	-	32	4695	c.4301C>T	c.(4300-4302)gCg>gTg	p.A1434V	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1441V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1434					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.577										HNSCC(58;0.16)			G|||	1	0.000199681	8e-04	0	5008	,	,		10225	0		0	False		,,,				2504	0					uc010qhy.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4315-4317)gCg>gTg		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							41	49	46					10																	55587219		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587219G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4301C>T	10.37:g.55587219G>A	ENSP00000322604:p.Ala1434Val	HNSCC(58;0.16)	Somatic				PCDH15_uc010qhq.2_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.2_Missense_Mutation_p.A1434V|PCDH15_uc021pqv.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqw.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.2_Missense_Mutation_p.A1441V|PCDH15_uc021pqx.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqz.1_Missense_Mutation_p.A1409V|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc001jju.1_Missense_Mutation_p.A1434V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V	p.A1439V	NM_001142763	NP_001136235	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			32	4711	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1434			Poly-Pro.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4316C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825745	0.32237	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58060	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;0.36	5.42	1.44	0.22558	.	.	.	.	.	T	0.27629	0.0679	N	0.14661	0.345	0.09310	N	1	B;P;P;B;P;P;B;B;P;P;B;B;B	0.40794	0.448;0.708;0.708;0.448;0.454;0.708;0.448;0.103;0.729;0.552;0.103;0.127;0.308	B;B;B;B;B;B;B;B;B;B;B;B;B	0.33121	0.085;0.158;0.158;0.058;0.075;0.124;0.085;0.01;0.053;0.035;0.01;0.016;0.085	T	0.07849	-1.0751	9	0.37606	T	0.19	.	5.5011	0.16829	0.2275:0.1472:0.6253:0.0	.	1409;1434;1434;1439;1363;1394;1431;1434;1441;1441;1434;1436;1434	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1441;1436;1434;1434;1045;1441;1394;1434;1409;1434;1431;1439;1363	ENSP00000363076:A1441V;ENSP00000410304:A1436V;ENSP00000378826:A1434V;ENSP00000386693:A1045V;ENSP00000378832:A1441V;ENSP00000378820:A1394V;ENSP00000354950:A1434V;ENSP00000378821:A1409V;ENSP00000322604:A1434V;ENSP00000378818:A1431V;ENSP00000412628:A1363V	ENSP00000322604:A1434V	A	-	2	0	PCDH15	55257225	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	0.291000	0.18994	0.069000	0.16605	0.591000	0.81541	GCG		0.577	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		20	130	0	0	0	1	0	20	130					A	55587219	G	A	55587219	3	1	382	1	0	0	0	0	1	0	0	0	11511	1087	38	1	3193	1	PCDH15	10	55587219	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		55587219	79947528	10	6470											
EIF3A	8661	broad.mit.edu	37	10	120797843	120797843	+	Missense_Mutation	SNP	T	T	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:120797843T>A	ENST00000369144.3	-	20	3762	c.3635A>T	c.(3634-3636)gAt>gTt	p.D1212V	EIF3A_ENST00000541549.1_Missense_Mutation_p.D1178V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		atcttgattatctctgtccct	0.488																																						uc001ldu.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3634-3636)gAt>gTt		Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.							276	230	246					10																	120797843		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797843T>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3635A>T	10.37:g.120797843T>A	ENSP00000358140:p.Asp1212Val		Somatic				EIF3A_uc010qsu.2_Missense_Mutation_p.D1178V|EIF3A_uc009xzg.1_Missense_Mutation_p.D251V	p.D1212V	NM_003750	NP_003741	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3781	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1212			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3635A>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073450	0.20147	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.29397	1.57;1.61	4.11	4.11	0.48088	.	0.180767	0.25628	U	0.029365	T	0.37517	0.1006	L	0.39898	1.24	0.58432	D	0.99999	D;B	0.61080	0.989;0.241	P;B	0.59487	0.858;0.151	T	0.04216	-1.0968	10	0.31617	T	0.26	-13.6853	9.8198	0.40876	0.0:0.0:0.0:1.0	.	1178;1212	F5H335;Q14152	.;EIF3A_HUMAN	V	1212;1178	ENSP00000358140:D1212V;ENSP00000438178:D1178V	ENSP00000358140:D1212V	D	-	2	0	EIF3A	120787833	0.998000	0.40836	0.851000	0.33527	0.804000	0.45430	4.447000	0.60020	2.090000	0.63153	0.459000	0.35465	GAT		0.488	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		8	179	0	0	0	1	0	8	179					A	120797843	T	A	120797843	3	1	382	1	0	0	0	0	1	0	0	0	5012	1435	50	5	525	5	EIF3A	10	120797843	Missense_Mutation	SNP	T	TCGA-H2-A421-01A-11D-A23M-08	65210624	120797843	14736904	11	6471											
GPR152	390212	broad.mit.edu	37	11	67219491	67219491	+	Silent	SNP	G	G	A	rs78290792		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr11:67219491G>A	ENST00000312457.2	-	1	709	c.705C>T	c.(703-705)ttC>ttT	p.F235F	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACACGGGCGAAGCCCCGGC	0.662																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(703-705)ttC>ttT		Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.							30	32	31					11																	67219491		2200	4295	6495	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219491G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.705C>T	11.37:g.67219491G>A			Somatic				CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	p.F235F	NM_206997	NP_996880	WXS	Illumina GAIIx	Phase_I	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		0	710	-			235					Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.705C>T	CCDS8165.1																																																																																				0.662	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			5	48	0	0	0	1	0	5	48					A	67219491	G	A	67219491	2	1	382	1	0	0	0	0	0	0	0	1	6658	1049	37	1		1	GPR152	11	67219491	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		67219491	67787025	12	6472											
C1R	715	broad.mit.edu	37	12	7188364	7188364	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:7188364C>A	ENST00000542285.1	-	11	1583	c.1434G>T	c.(1432-1434)atG>atT	p.M478I				P00736	C1R_HUMAN	complement component 1, r subcomponent	530	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCTAGCTTCATGAGCTCTT	0.567																																						uc010sfy.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1354-1356)atG>atT		Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	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)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						123	131	128					12																	7188364		2198	4298	6496	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188364C>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1434G>T	12.37:g.7188364C>A	ENSP00000438615:p.Met478Ile		Somatic					p.M452I	NM_001733	NP_001724	WXS	Illumina GAIIx	Phase_I	P00736	C1R_HUMAN			8	1415	-			530					A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1356G>T		.	.	.	.	.	.	.	.	.	.	C	2.966	-0.213475	0.06140	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88431	-2.38	5.44	-0.148	0.13424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.278400	0.05190	N	0.502986	T	0.81805	0.4900	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63866	-0.6540	9	0.35671	T	0.21	.	6.8157	0.23829	0.0:0.2486:0.4235:0.3279	.	530	P00736	C1R_HUMAN	I	493;478	ENSP00000438615:M478I	ENSP00000290575:M493I	M	-	3	0	C1R	7058619	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.324000	0.07986	-0.360000	0.08138	-0.274000	0.10170	ATG		0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		16	184	0	0	0	1	0	16	184					A	7188364	C	A	7188364	3	1	382	1	0	0	0	0	1	0	0	0	1972	826	29	4	531	4	C1R	12	7188364	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		7188364	126663531	13	6473											
ABCC9	10060	broad.mit.edu	37	12	21970200	21970200	+	Silent	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:21970200G>A	ENST00000261201.4	-	31	3812	c.3813C>T	c.(3811-3813)gaC>gaT	p.D1271D	ABCC9_ENST00000261200.4_Silent_p.D1271D|ABCC9_ENST00000345162.2_Silent_p.D1235D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1271	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GGACCTCCAGGTCAGCCAAGT	0.368																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3811-3813)gaC>gaT		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						127	130	129					12																	21970200		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970200G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3813C>T	12.37:g.21970200G>A			Somatic				ABCC9_uc001rfi.1_Silent_p.D1271D	p.D1271D	NM_020297	NP_064693	WXS	Illumina GAIIx	Phase_I	O60706	ABCC9_HUMAN			30	3833	-			1271			ABC transmembrane type-1 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.3813C>T	CCDS8694.1																																																																																				0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		16	179	0	0	0	1	0	16	179					A	21970200	G	A	21970200	2	1	382	1	0	0	0	0	0	0	0	1	59	1252	44	2		2	ABCC9	12	21970200	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08	14781836	21970200	111881695	14	6474											
F10	2159	broad.mit.edu	37	13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	rs201675411		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ATGAACGTGGCGCCTGCCTGC	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		15189	0		0	False		,,,				2504	0					uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1015-1017)gCg>gTg		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						121	94	103					13																	113803380		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803380C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1016C>T	13.37:g.113803380C>T	ENSP00000364709:p.Ala339Val		Somatic				F10_uc001vsy.3_3'UTR	p.A339V	NM_000504	NP_000495	WXS	Illumina GAIIx	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	1073	+	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	339			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1016C>T	CCDS9530.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.062	-1.221331	0.01530	.	.	ENSG00000126218	ENST00000375559	D	0.89050	-2.46	5.25	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.398760	0.25903	N	0.027551	T	0.66015	0.2747	N	0.10760	0.04	0.09310	N	1	P	0.37015	0.578	B	0.29598	0.104	T	0.64462	-0.6402	10	0.02654	T	1	.	3.4406	0.07462	0.0:0.4945:0.1999:0.3056	.	339	P00742	FA10_HUMAN	V	339	ENSP00000364709:A339V	ENSP00000364709:A339V	A	+	2	0	F10	112851381	0.226000	0.23696	0.813000	0.32504	0.000000	0.00434	3.712000	0.54875	1.215000	0.43411	-0.251000	0.11542	GCG		0.637	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			47	118	0	0	0	1	0	47	118					T	113803380	C	T	113803380	3	4	382	1	0	0	0	0	1	0	0	0	5336	768	27	1	1046	1	F10	13	113803380	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		113803380	1366498	15	6475											
CLEC16A	23274	broad.mit.edu	37	16	11217709	11217709	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr16:11217709C>T	ENST00000409790.1	+	21	2609	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000409552.3_Silent_p.F775F	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGCCACCTTCATCTTCTCAG	0.602																																						uc021tcy.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2377-2379)ttC>ttT		Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.							62	68	66					16																	11217709		2118	4237	6355	SO:0001819	synonymous_variant	23274							g.chr16:11217709C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2379C>T	16.37:g.11217709C>T			Somatic				CLEC16A_uc002dan.4_Silent_p.F775F|CLEC16A_uc002dao.3_Silent_p.F791F|CLEC16A_uc002dap.3_5'Flank	p.F793F	NM_015226	NP_056041	WXS	Illumina GAIIx	Phase_I	Q2KHT3	CL16A_HUMAN			20	2609	+			793						Silent	SNP	ENST00000409790.1	37	c.2379C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424865	0.25639	.	.	ENSG00000038532	ENST00000428742	.	.	.	5.55	2.31	0.28768	.	.	.	.	.	T	0.53965	0.1829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-23.1287	6.2745	0.20973	0.0:0.3426:0.0:0.6574	.	.	.	.	L	37	.	.	S	+	2	0	CLEC16A	11125210	0.922000	0.31269	0.849000	0.33467	0.997000	0.91878	0.606000	0.24194	0.211000	0.20683	0.655000	0.94253	TCA		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		9	88	0	0	0	1	0	9	88					T	11217709	C	T	11217709	2	4	382	1	0	0	0	0	0	0	0	1	3500	825	29	2		2	CLEC16A	16	11217709	Silent	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		11217709	79137044	16	6476											
DNAH9	1770	broad.mit.edu	37	17	11872643	11872643	+	Silent	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:11872643G>A	ENST00000262442.4	+	69	13328	c.13260G>A	c.(13258-13260)ctG>ctA	p.L4420L	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L4344L|DNAH9_ENST00000608377.1_Silent_p.L732L|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4420					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAAAGCTGAAGGATCTGA	0.512																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13258-13260)ctG>ctA		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							128	116	120					17																	11872643		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872643G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13260G>A	17.37:g.11872643G>A			Somatic				DNAH9_uc010coo.3_Silent_p.L3638L|DNAH9_uc002gnf.3_Silent_p.L732L	p.L4420L	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13328	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4420					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.13260G>A	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		12	152	0	0	0	1	0	12	152					A	11872643	G	A	11872643	2	1	382	1	0	0	0	0	0	0	0	1	4608	1277	45	2		2	DNAH9	17	11872643	Silent	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		11872643	69322567	17	6477											
MYO15A	51168	broad.mit.edu	37	17	18022676	18022676	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:18022676C>T	ENST00000205890.5	+	2	900	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	188					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)					GGGCCGGCTCCGGAGGTTCCC	0.711																																						uc021trm.1																			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.(562-564)Cgg>Tgg		Homo sapiens myosin XVA (MYO15A), mRNA.							17	19	19					17																	18022676		1896	4104	6000	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18022676C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.562C>T	17.37:g.18022676C>T	ENSP00000205890:p.Arg188Trp		Somatic				MYO15A_uc021trl.1_Missense_Mutation_p.R188W	p.R188W	NM_016239	NP_057323	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			0	781	+	all_neural(463;0.228)		188			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.562C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118454	0.37339	.	.	ENSG00000091536	ENST00000205890	D	0.90955	-2.76	5.34	4.31	0.51392	.	.	.	.	.	D	0.91452	0.7302	L	0.29908	0.895	0.24464	N	0.994425	D	0.89917	1.0	D	0.67548	0.952	D	0.84148	0.0421	9	0.87932	D	0	.	12.6023	0.56504	0.2451:0.7549:0.0:0.0	.	188	Q9UKN7	MYO15_HUMAN	W	188	ENSP00000205890:R188W	ENSP00000205890:R188W	R	+	1	2	MYO15A	17963401	0.754000	0.28360	0.990000	0.47175	0.081000	0.17604	1.562000	0.36353	2.481000	0.83766	0.555000	0.69702	CGG		0.711	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		25	44	0	0	0	1	0	25	44					T	18022676	C	T	18022676	3	4	382	1	0	0	0	0	1	0	0	0	10063	643	23	1	564	1	MYO15A	17	18022676	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	6150033	18022676	63172534	18	6478											
EXOC7	23265	broad.mit.edu	37	17	74084631	74084631	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:74084631T>C	ENST00000335146.7	-	11	1419	c.1366A>G	c.(1366-1368)Agc>Ggc	p.S456G	EXOC7_ENST00000589210.1_Missense_Mutation_p.S405G|EXOC7_ENST00000332065.5_Missense_Mutation_p.S374G|EXOC7_ENST00000467929.2_Missense_Mutation_p.S364G|EXOC7_ENST00000405575.4_Missense_Mutation_p.S428G|EXOC7_ENST00000607838.1_Missense_Mutation_p.S428G|EXOC7_ENST00000411744.2_Missense_Mutation_p.S397G			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	456					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCTTTGTGCTGGCAGCCGTG	0.597																																						uc002jqs.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(1366-1368)Agc>Ggc		Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.							102	78	86					17																	74084631		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74084631T>C	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1366A>G	17.37:g.74084631T>C	ENSP00000334100:p.Ser456Gly		Somatic				EXOC7_uc010dgv.2_Missense_Mutation_p.S352G|EXOC7_uc010wsv.2_Missense_Mutation_p.S364G|EXOC7_uc010wsw.2_Missense_Mutation_p.S428G|EXOC7_uc002jqq.3_Missense_Mutation_p.S405G|EXOC7_uc010wsx.2_Missense_Mutation_p.S397G|EXOC7_uc002jqr.3_Missense_Mutation_p.S374G	p.S456G	NM_001145297	NP_001138769	WXS	Illumina GAIIx	Phase_I	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		10	1461	-			456					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.1366A>G	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480329	0.26598	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.41	3.15	0.36227	Cullin repeat-like-containing domain (1);	0.206931	0.64402	N	0.000017	T	0.24470	0.0593	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B	0.12013	0.004;0.002;0.0;0.002;0.002;0.005;0.001	B;B;B;B;B;B;B	0.14578	0.004;0.003;0.006;0.001;0.011;0.001;0.0	T	0.03139	-1.1068	9	0.34782	T	0.22	-17.5065	4.8471	0.13519	0.0:0.2365:0.1528:0.6107	.	397;428;364;364;456;374;405	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	G	374;294;428;456;405;364;397	.	ENSP00000333806:S374G	S	-	1	0	EXOC7	71596226	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.343000	0.52167	0.343000	0.23821	0.533000	0.62120	AGC		0.597	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		5	35	0	0	0	1	0	5	35					C	74084631	T	C	74084631	3	2	382	1	0	0	0	0	1	0	0	0	5310	1580	55	3	881	3	EXOC7	17	74084631	Missense_Mutation	SNP	T	TCGA-H2-A421-01A-11D-A23M-08	56061955	74084631	7110579	19	6479											
LAMA3	3909	broad.mit.edu	37	18	21501533	21501533	+	Missense_Mutation	SNP	A	A	G	rs377376620		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr18:21501533A>G	ENST00000313654.9	+	62	8402	c.8161A>G	c.(8161-8163)Att>Gtt	p.I2721V	LAMA3_ENST00000399516.3_Missense_Mutation_p.I2665V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.I1056V|LAMA3_ENST00000269217.6_Missense_Mutation_p.I1112V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2721	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)					AGGAATTCCAATTGCAATCAG	0.333																																						uc002kuq.3																			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.(8161-8163)Att>Gtt		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	121	126	125		3334,7993,3166,8161	2.0	0.9	18		125	0,8600		0,0,4300	no	missense,missense,missense,missense	LAMA3	NM_000227.3,NM_001127717.1,NM_001127718.1,NM_198129.1	29,29,29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1112/1725,2665/3278,1056/1669,2721/3334	21501533	1,13005	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.chr18:21501533A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8161A>G	18.37:g.21501533A>G	ENSP00000324532:p.Ile2721Val		Somatic				LAMA3_uc002kur.3_Missense_Mutation_p.I2665V|LAMA3_uc002kus.4_Missense_Mutation_p.I1112V|LAMA3_uc002kut.4_Missense_Mutation_p.I1056V	p.I2721V	NM_198129	NP_937762	WXS	Illumina GAIIx	Phase_I	Q16787	LAMA3_HUMAN			61	8247	+	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)		2721			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8161A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	a	11.53	1.664806	0.29604	2.27E-4	0.0	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77489	-1.1;-1.1;-1.1	5.77	1.96	0.26148	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.71762	0.3378	M	0.68317	2.08	0.09310	N	0.999998	B;P;B;P	0.35527	0.316;0.497;0.367;0.507	B;B;B;B	0.40101	0.235;0.319;0.253;0.238	T	0.59731	-0.7399	9	0.30078	T	0.28	.	1.1169	0.01716	0.492:0.1276:0.1351:0.2452	.	1056;1112;2665;2721	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2721;2665;1112	ENSP00000324532:I2721V;ENSP00000382432:I2665V;ENSP00000269217:I1112V	ENSP00000269217:I1112V	I	+	1	0	LAMA3	19755531	1.000000	0.71417	0.866000	0.34008	0.996000	0.88848	1.180000	0.32005	0.094000	0.17404	-0.253000	0.11424	ATT		0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	121	0	0	0	1	0	9	121					G	21501533	A	G	21501533	3	3	382	1	0	0	0	0	1	0	0	0	8607	101	4	3	8582	3	LAMA3	18	21501533	Missense_Mutation	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		21501533	56575715	20	6480											
TTC9B	148014	broad.mit.edu	37	19	40722102	40722102	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr19:40722102C>T	ENST00000311308.6	-	3	705	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	230					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGGACCCAGCCCCACTGTCT	0.602																																						uc002onc.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(688-690)Gct>Act		Homo sapiens tetratricopeptide repeat domain 9B (TTC9B), mRNA.							124	98	107					19																	40722102		2203	4300	6503	SO:0001583	missense	148014						binding	g.chr19:40722102C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"Tetratricopeptide (TTC) repeat domain containing"	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.688G>A	19.37:g.40722102C>T	ENSP00000311760:p.Ala230Thr		Somatic					p.A230T	NM_152479	NP_689692	WXS	Illumina GAIIx	Phase_I	Q8N6N2	TTC9B_HUMAN			2	706	-			230					A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	c.688G>A	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	c	13.00	2.105736	0.37145	.	.	ENSG00000174521	ENST00000311308	T	0.31510	1.49	4.23	2.03	0.26663	.	0.887861	0.09257	U	0.827109	T	0.17619	0.0423	N	0.22421	0.69	0.20196	N	0.999924	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.12430	T	0.62	-0.1245	6.3868	0.21566	0.0:0.7513:0.0:0.2487	.	230	Q8N6N2	TTC9B_HUMAN	T	230	ENSP00000311760:A230T	ENSP00000311760:A230T	A	-	1	0	TTC9B	45413942	0.002000	0.14202	0.429000	0.26710	0.268000	0.26511	0.130000	0.15850	0.746000	0.32786	0.556000	0.70494	GCT		0.602	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		10	148	0	0	0	1	0	10	148					T	40722102	C	T	40722102	3	4	382	1	0	0	0	0	1	0	0	0	16713	739	26	2	35	2	TTC9B	19	40722102	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08		40722102	18406881	21	6481											
MYBL2	4605	broad.mit.edu	37	20	42331451	42331451	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:42331451G>A	ENST00000217026.4	+	8	1400	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	425					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612																																						uc002xlb.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1273-1275)Gag>Aag		Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.							125	99	108					20																	42331451		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331451G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1273G>A	20.37:g.42331451G>A	ENSP00000217026:p.Glu425Lys		Somatic				MYBL2_uc010zwj.1_Missense_Mutation_p.E401K	p.E425K	NM_002466	NP_002457	WXS	Illumina GAIIx	Phase_I	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	1488	+		Myeloproliferative disorder(115;0.00452)	425					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1273G>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649671	0.67358	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.48	4.99	4.99	0.66335	.	0.180342	0.47093	D	0.000247	T	0.24005	0.0581	N	0.19112	0.55	0.45076	D	0.998099	D;D	0.76494	0.96;0.999	P;D	0.63793	0.737;0.918	T	0.04976	-1.0914	10	0.15952	T	0.53	-38.7282	17.4343	0.87547	0.0:0.0:1.0:0.0	.	401;425	F8W6N6;P10244	.;MYBB_HUMAN	K	401;425	ENSP00000380072:E401K;ENSP00000217026:E425K	ENSP00000217026:E425K	E	+	1	0	MYBL2	41764865	1.000000	0.71417	0.963000	0.40424	0.737000	0.42083	6.492000	0.73654	2.488000	0.83962	0.462000	0.41574	GAG		0.612	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		13	98	0	0	0	1	0	13	98					A	42331451	G	A	42331451	3	1	382	1	0	0	0	0	1	0	0	0	10010	1291	45	2	1303	2	MYBL2	20	42331451	Missense_Mutation	SNP	G	TCGA-H2-A421-01A-11D-A23M-08		42331451	20694069	22	6482											
PLTP	5360	broad.mit.edu	37	20	44539816	44539816	+	Missense_Mutation	SNP	C	C	A	rs139898818		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:44539816C>A	ENST00000477313.1	-	2	769	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	PLTP_ENST00000372431.3_Missense_Mutation_p.G59C|PLTP_ENST00000542937.1_Missense_Mutation_p.G79C|PLTP_ENST00000354050.4_Missense_Mutation_p.G59C|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000420868.2_Missense_Mutation_p.G59C			P55058	PLTP_HUMAN	phospholipid transfer protein	59					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TAGAAGTGGCCTTCTTTGCCC	0.617																																						uc002xqm.2																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(235-237)Ggc>Tgc		Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.							88	90	89					20																	44539816		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44539816C>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.175G>T	20.37:g.44539816C>A	ENSP00000417138:p.Gly59Cys		Somatic				PLTP_uc002xql.2_5'Flank|PLTP_uc010zxj.2_Missense_Mutation_p.G59C|PLTP_uc002xqq.2_Missense_Mutation_p.G28C|PLTP_uc002xqn.2_Missense_Mutation_p.G59C|PLTP_uc002xqo.2_Missense_Mutation_p.G59C	p.G79C	NM_001242921	NP_001229850	WXS	Illumina GAIIx	Phase_I	P55058	PLTP_HUMAN			1	770	-		Myeloproliferative disorder(115;0.0122)	59					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.235G>T	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356569	0.82243	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.2	4.24	0.50183	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.049033	0.85682	D	0.000000	T	0.30510	0.0767	M	0.79123	2.44	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.994;0.994;1.0;1.0;1.0;1.0	P;P;D;D;D;D	0.85130	0.804;0.804;0.996;0.993;0.996;0.997	T	0.14117	-1.0484	10	0.87932	D	0	-9.823	15.8394	0.78835	0.0:0.8639:0.1361:0.0	.	59;59;59;59;59;79	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	C	59;59;59;79;59	ENSP00000361508:G59C;ENSP00000335290:G59C;ENSP00000417138:G59C;ENSP00000440296:G79C;ENSP00000411671:G59C	ENSP00000335290:G59C	G	-	1	0	PLTP	43973223	1.000000	0.71417	0.588000	0.28705	0.984000	0.73092	6.763000	0.74955	1.397000	0.46682	0.563000	0.77884	GGC		0.617	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		15	158	0	0	0	1	0	15	158					A	44539816	C	A	44539816	3	1	382	1	0	0	0	0	1	0	0	0	12114	681	24	4	1362	4	PLTP	20	44539816	Missense_Mutation	SNP	C	TCGA-H2-A421-01A-11D-A23M-08	2208365	44539816	18485704	23	6483											
MAGEC1	9947	broad.mit.edu	37	X	140996442	140996442	+	Silent	SNP	A	A	G			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chrX:140996442A>G	ENST00000285879.4	+	4	3538	c.3252A>G	c.(3250-3252)gtA>gtG	p.V1084V	MAGEC1_ENST00000406005.2_Silent_p.V151V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1084	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGAAAGTAGTAGAGTTTT	0.458										HNSCC(15;0.026)																												uc004fbt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3250-3252)gtA>gtG		Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.							148	138	141					X																	140996442		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996442A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3252A>G	X.37:g.140996442A>G		HNSCC(15;0.026)	Somatic				MAGEC1_uc010nsl.2_Silent_p.V151V|MAGEC1_uc022cfi.1_Silent_p.V743V	p.V1084V	NM_005462	NP_005453	WXS	Illumina GAIIx	Phase_I	O60732	MAGC1_HUMAN			3	3576	+	Acute lymphoblastic leukemia(192;6.56e-05)		1084			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3252A>G	CCDS35417.1																																																																																				0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		100	233	0	0	0	1	0	100	233					G	140996442	A	G	140996442	2	3	382	1	0	0	0	0	0	0	0	1	9180	407	15	3		3	MAGEC1	23	140996442	Silent	SNP	A	TCGA-H2-A421-01A-11D-A23M-08		140996442	14274118	24	6484											
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	rs371992948	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0	0	5008	,	,		19286	0.001		0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	uc001ffw.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(736-738)Gca>Aca		Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 3, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192	202	199		736,406,271,406,736	5.4	1.0	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	1.37:g.154940985C>T	ENSP00000357430:p.Ala246Thr		Somatic				SHC1_uc001ffv.3_Missense_Mutation_p.A246T|SHC1_uc001ffx.3_Missense_Mutation_p.A136T|SHC1_uc001ffy.3_Missense_Mutation_p.A136T|SHC1_uc001ffz.1_Missense_Mutation_p.A17T	p.A246T	NM_001130040	NP_003020	WXS	Illumina GAIIx	Phase_I	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	957	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		246			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.736G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		5	469	0	0	0	1	0	5	469					T	154940985	C	T	154940985	3	4	383	1	0	0	0	0	1	0	0	0	14270	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		154940985	94309636	1	6485											
PGBD2	267002	broad.mit.edu	37	1	249211398	249211398	+	Silent	SNP	C	C	A	rs377474764		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:249211398C>A	ENST00000329291.5	+	3	762	c.615C>A	c.(613-615)ccC>ccA	p.P205P	PGBD2_ENST00000539153.1_Silent_p.P202P|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	205								p.P205P(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAACCTCTCCCGATTCACATC	0.398																																						uc001ifh.3																			1	Substitution - coding silent(1)	p.P205P(1)	lung(1)	NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(613-615)ccC>ccA		Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.							137	140	139					1																	249211398		2203	4300	6503	SO:0001819	synonymous_variant	267002							g.chr1:249211398C>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.615C>A	1.37:g.249211398C>A			Somatic				PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Silent_p.P202P|PGBD2_uc021pmh.1_5'Flank	p.P205P	NM_170725	NP_001017434	WXS	Illumina GAIIx	Phase_I	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	762	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	205					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.615C>A	CCDS31128.1																																																																																				0.398	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			4	203	0	0	0	1	0	4	203					A	249211398	C	A	249211398	2	1	383	1	0	0	0	0	0	0	0	1	11781	639	23	4		4	PGBD2	1	249211398	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	94270413	249211398	39223	2	6486											
PLA2R1	22925	broad.mit.edu	37	2	160869870	160869870	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:160869870C>A	ENST00000283243.7	-	10	1774	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G523V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	523	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.			RHG -> ETC (in Ref. 1; AAA70110/ AAC50163). {ECO:0000305}.	cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACAGAATCCACCATGTCTCTC	0.378																																						uc002ube.2																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1567-1569)gGt>gTt		Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.							100	95	97					2																	160869870		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160869870C>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1568G>T	2.37:g.160869870C>A	ENSP00000283243:p.Gly523Val		Somatic				PLA2R1_uc010zcp.2_Missense_Mutation_p.G523V|PLA2R1_uc002ubf.3_Missense_Mutation_p.G523V	p.G523V	NM_007366	NP_031392	WXS	Illumina GAIIx	Phase_I	Q13018	PLA2R_HUMAN			9	1780	-			523	RHG -> ETC (in Ref. 1; AAA70110/ AAC50163).		C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.1568G>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901105	0.72754	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.10005	2.92;2.92	5.26	4.39	0.52855	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.236182	0.43416	D	0.000574	T	0.35682	0.0940	M	0.87038	2.855	0.80722	D	1	P;D;D	0.76494	0.834;0.993;0.999	B;P;D	0.64776	0.365;0.903;0.929	T	0.39961	-0.9588	10	0.72032	D	0.01	.	13.9664	0.64211	0.0:0.9266:0.0:0.0734	.	523;523;523	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	V	523	ENSP00000283243:G523V;ENSP00000376524:G523V	ENSP00000283243:G523V	G	-	2	0	PLA2R1	160578116	0.995000	0.38212	0.844000	0.33320	0.966000	0.64601	3.718000	0.54919	1.344000	0.45657	0.650000	0.86243	GGT		0.378	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			16	43	0	0	0	1	0	16	43					A	160869870	C	A	160869870	3	1	383	1	0	0	0	0	1	0	0	0	12010	507	18	4	2915	4	PLA2R1	2	160869870	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		160869870	82329503	3	6487											
LRPAP1	4043	broad.mit.edu	37	4	3534117	3534117	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:3534117G>A	ENST00000500728.2	-	1	169	c.23C>T	c.(22-24)tCg>tTg	p.S8L	LRPAP1_ENST00000296325.5_5'Flank	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	8					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCAGAAACGACCTGACCCT	0.711																																						uc003ghh.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(22-24)tCg>tTg		Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.							11	13	13					4																	3534117		2171	4278	6449	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3534117G>A		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.23C>T	4.37:g.3534117G>A	ENSP00000421922:p.Ser8Leu		Somatic					p.S8L	NM_002337	NP_002328	WXS	Illumina GAIIx	Phase_I	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	0	108	-			8					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.23C>T	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963702	0.34659	.	.	ENSG00000163956	ENST00000500728	T	0.33216	1.42	3.15	-3.5	0.04710	.	3.037260	0.01740	N	0.029327	T	0.21145	0.0509	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28004	-1.0057	10	0.72032	D	0.01	.	4.9876	0.14198	0.5649:0.1652:0.2699:0.0	.	8	P30533	AMRP_HUMAN	L	8	ENSP00000421922:S8L	ENSP00000421922:S8L	S	-	2	0	LRPAP1	3503915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.121000	0.10643	-0.846000	0.04174	-0.225000	0.12378	TCG		0.711	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			3	4	0	0	0	1	0	3	4					A	3534117	G	A	3534117	3	1	383	1	0	0	0	0	1	0	0	0	8964	1059	37	1	1082	1	LRPAP1	4	3534117	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		3534117	187620159	4	6488											
ANXA3	306	broad.mit.edu	37	4	79525503	79525503	+	Silent	SNP	C	C	A	rs377732793		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:79525503C>A	ENST00000264908.6	+	12	1241	c.862C>A	c.(862-864)Cga>Aga	p.R288R	ANXA3_ENST00000512884.1_Silent_p.R249R|ANXA3_ENST00000503570.2_Silent_p.R249R	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	288					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTTGGACATTCGAACAGAGTT	0.368																																					GBM(2;126 157 27790 28920 42492)	uc003hld.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(862-864)Cga>Aga		Homo sapiens annexin A3 (ANXA3), mRNA.							116	111	113					4																	79525503		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79525503C>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.862C>A	4.37:g.79525503C>A			Somatic					p.R288R	NM_005139	NP_005130	WXS	Illumina GAIIx	Phase_I	P12429	ANXA3_HUMAN			11	1172	+			288					B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.862C>A	CCDS3584.1																																																																																				0.368	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		3	94	0	0	0	1	0	3	94					A	79525503	C	A	79525503	2	1	383	1	0	0	0	0	0	0	0	1	719	876	31	4		4	ANXA3	4	79525503	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	75991386	79525503	111628773	5	6489											
RGMB	285704	broad.mit.edu	37	5	98115491	98115491	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr5:98115491T>A	ENST00000513185.1	+	2	780	c.344T>A	c.(343-345)cTc>cAc	p.L115H	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.L156H			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	115					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATCAGTGACCTCATGAGCCAG	0.557																																						uc003knc.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(466-468)cTc>cAc		Homo sapiens RGM domain family, member B (RGMB), mRNA.							61	62	62					5																	98115491		1994	4173	6167	SO:0001583	missense	285704				BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding	g.chr5:98115491T>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.344T>A	5.37:g.98115491T>A	ENSP00000423256:p.Leu115His		Somatic				RGMB_uc003knb.2_Missense_Mutation_p.L156H	p.L156H	NM_001012761	NP_001012779	WXS	Illumina GAIIx	Phase_I	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	3	869	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	115					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.467T>A		.	.	.	.	.	.	.	.	.	.	T	26.1	4.706387	0.89018	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97994	-4.65;-4.65	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99007	1.0813	10	0.48119	T	0.1	-23.3147	15.7042	0.77565	0.0:0.0:0.0:1.0	.	115	Q6NW40	RGMB_HUMAN	H	156;115	ENSP00000308219:L156H;ENSP00000423256:L115H	ENSP00000308219:L156H	L	+	2	0	RGMB	98143391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.171000	0.68590	0.460000	0.39030	CTC		0.557	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		3	65	0	0	0	1	0	3	65					A	98115491	T	A	98115491	3	1	383	1	0	0	0	0	1	0	0	0	13281	1551	54	5	477	5	RGMB	5	98115491	Missense_Mutation	SNP	T	TCGA-IM-A3EB-01A-11D-A202-08		98115491	82799769	6	6490											
HS3ST5	222537	broad.mit.edu	37	6	114379018	114379018	+	Silent	SNP	A	A	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:114379018A>G	ENST00000312719.5	-	5	1632	c.444T>C	c.(442-444)ccT>ccC	p.P148P	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.P148P			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	148					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGATTTGCTGAGGGTAGGAAA	0.373																																						uc003pwh.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41						c.(442-444)ccT>ccC		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.							126	130	129					6																	114379018		2203	4300	6503	SO:0001819	synonymous_variant	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379018A>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.444T>C	6.37:g.114379018A>G			Somatic				BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwg.4_Silent_p.P148P	p.P148P	NM_153612	NP_705840	WXS	Illumina GAIIx	Phase_I	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	4	964	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	148					A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	c.444T>C	CCDS34517.1																																																																																				0.373	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		67	133	0	0	0	1	0	67	133					G	114379018	A	G	114379018	2	3	383	1	0	0	0	0	0	0	0	1	7368	291	11	3		3	HS3ST5	6	114379018	Silent	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		114379018	56736049	7	6491											
LAMA2	3908	broad.mit.edu	37	6	129588337	129588337	+	Silent	SNP	C	C	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:129588337C>A	ENST00000421865.2	+	16	2344	c.2295C>A	c.(2293-2295)tcC>tcA	p.S765S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	765	Laminin EGF-like 6. {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)		ATGCGGAGTCCTGTGATGACG	0.488																																						uc021zfb.1																			0		p.S765Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2293-2295)tcC>tcA		Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.							315	261	279					6																	129588337		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:129588337C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2295C>A	6.37:g.129588337C>A			Somatic				LAMA2_uc003qbn.3_Silent_p.S765S|LAMA2_uc003qbo.3_Silent_p.S765S	p.S765S	NM_000426	NP_000417	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	15	2400	+			765			Laminin EGF-like 6.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.2295C>A	CCDS5138.1																																																																																				0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	227	0	0	0	1	0	4	227					A	129588337	C	A	129588337	2	1	383	1	0	0	0	0	0	0	0	1	8606	668	24	4		4	LAMA2	6	129588337	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08	15209319	129588337	41526730	8	6492											
C7orf42	55069	broad.mit.edu	37	7	66410130	66410130	+	Silent	SNP	G	G	T	rs540067694	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:66410130G>T	ENST00000341567.4	+	3	582	c.327G>T	c.(325-327)ccG>ccT	p.P109P		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	109						integral component of membrane (GO:0016021)											ACTCGGGCCCGGTGAATATCT	0.582																																						uc003tvk.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						c.(325-327)ccG>ccT		Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.							60	63	62					7																	66410130		2203	4300	6503	SO:0001819	synonymous_variant	55069					integral to membrane		g.chr7:66410130G>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.327G>T	7.37:g.66410130G>T			Somatic				C7orf42_uc010lah.3_Non-coding_Transcript	p.P109P	NM_017994	NP_060464	WXS	Illumina GAIIx	Phase_I	Q9NWD8	CG042_HUMAN			2	591	+			109					Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.327G>T	CCDS5536.1																																																																																				0.582	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	88	0	0	0	1	0	3	88					T	66410130	G	T	66410130	2	4	383	1	0	0	0	0	0	0	0	1	2392	1103	39	4		4	C7orf42	7	66410130	Silent	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		66410130	92728533	9	6493											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	59	0	0	0	1	0	23	59					T	140453136	A	T	140453136	3	4	383	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08	74043006	140453136	18685527	10	6494											
OR1K1	392392	broad.mit.edu	37	9	125563190	125563190	+	Silent	SNP	C	C	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr9:125563190C>A	ENST00000277309.2	+	1	821	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACTTCCAGGCCACATCCCGAC	0.612																																						uc011lze.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(787-789)gcC>gcA		Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.							116	105	109					9																	125563190		2203	4300	6503	SO:0001819	synonymous_variant	392392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563190C>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.789C>A	9.37:g.125563190C>A			Somatic					p.A263A	NM_080859	NP_543135	WXS	Illumina GAIIx	Phase_I	Q8NGR3	OR1K1_HUMAN			0	789	+			263					B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	c.789C>A	CCDS35132.1																																																																																				0.612	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			4	146	0	0	0	1	0	4	146					A	125563190	C	A	125563190	2	1	383	1	0	0	0	0	0	0	0	1	10962	581	21	4		4	OR1K1	9	125563190	Silent	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		125563190	15650241	11	6495											
NAP1L4	4676	broad.mit.edu	37	11	2981037	2981037	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:2981037A>G	ENST00000380542.4	-	9	849	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	NAP1L4_ENST00000526115.1_Missense_Mutation_p.F237L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	237					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCAAAGGAAAAGGGATCAGCC	0.373																																						uc010qxm.2																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.(709-711)Ttt>Ctt		Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.							139	127	131					11																	2981037		1852	4082	5934	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2981037A>G	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.709T>C	11.37:g.2981037A>G	ENSP00000369915:p.Phe237Leu		Somatic				NAP1L4_uc001lxc.3_Missense_Mutation_p.F237L|NAP1L4_uc010qxn.2_Missense_Mutation_p.F237L	p.F237L	NM_005969	NP_005960	WXS	Illumina GAIIx	Phase_I	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	9	993	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	237					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.709T>C	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805961	0.50421	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000532325;ENST00000448187	T;T;T	0.26223	1.75;1.75;1.75	4.87	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	L	0.56396	1.775	0.80722	D	1	P;P	0.44776	0.843;0.546	P;B	0.53006	0.715;0.387	T	0.05386	-1.0888	10	0.38643	T	0.18	-9.5204	11.7769	0.51991	0.8525:0.1475:0.0:0.0	.	237;237	F5HFY4;Q99733	.;NP1L4_HUMAN	L	237;237;237;122;249	ENSP00000369915:F237L;ENSP00000436397:F237L;ENSP00000387783:F249L	ENSP00000369915:F237L	F	-	1	0	NAP1L4	2937613	1.000000	0.71417	0.188000	0.23233	0.582000	0.36321	8.584000	0.90798	0.868000	0.35678	0.455000	0.32223	TTT		0.373	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		3	69	0	0	0	1	0	3	69					G	2981037	A	G	2981037	3	3	383	1	0	0	0	0	1	0	0	0	10159	72	3	3	446	3	NAP1L4	11	2981037	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		2981037	132025479	12	6496											
C11orf65	160140	broad.mit.edu	37	11	108332225	108332225	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:108332225T>C	ENST00000529391.1	-	1	71	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	C11orf65_ENST00000393084.1_Missense_Mutation_p.Q21R|C11orf65_ENST00000525729.1_Missense_Mutation_p.Q21R			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	21										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTTCCAGGCCTGCTGAATGAC	0.299																																						uc001pkh.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(61-63)cAg>cGg		Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.							76	85	82					11																	108332225		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108332225T>C	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.62A>G	11.37:g.108332225T>C	ENSP00000436400:p.Gln21Arg		Somatic				C11orf65_uc010rvx.1_Missense_Mutation_p.Q21R|C11orf65_uc009yxu.2_Non-coding_Transcript	p.Q21R	NM_152587	NP_689800	WXS	Illumina GAIIx	Phase_I	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	1	132	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	21					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.62A>G	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	T	0.184	-1.059069	0.01950	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.30448	1.53;1.53;1.53	4.36	-2.0	0.07433	.	0.887861	0.09449	N	0.800756	T	0.08268	0.0206	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37267	-0.9713	10	0.02654	T	1	0.3024	8.7176	0.34421	0.0:0.4457:0.0:0.5543	.	21;21	B4DZU4;Q8NCR3	.;CK065_HUMAN	R	21	ENSP00000436400:Q21R;ENSP00000376799:Q21R;ENSP00000434500:Q21R	ENSP00000376799:Q21R	Q	-	2	0	C11orf65	107837435	0.699000	0.27786	0.294000	0.24946	0.994000	0.84299	0.250000	0.18235	-0.366000	0.08064	0.528000	0.53228	CAG		0.299	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		3	79	0	0	0	1	0	3	79					C	108332225	T	C	108332225	3	2	383	1	0	0	0	0	1	0	0	0	1655	1580	55	3	911	3	C11orf65	11	108332225	Missense_Mutation	SNP	T	TCGA-IM-A3EB-01A-11D-A202-08	105351188	108332225	26674291	13	6497											
CSRNP2	81566	broad.mit.edu	37	12	51467752	51467752	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr12:51467752C>G	ENST00000228515.1	-	3	562	c.265G>C	c.(265-267)Ggt>Cgt	p.G89R	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	89					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|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)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GAGCTACCACCCTGGCTGGGC	0.552																																						uc021qxx.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(265-267)Ggt>Cgt		Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.							85	90	88					12																	51467752		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467752C>G	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16006	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 72"		"chromosome 12 open reading frame 22", "family with sequence similarity 130, member A1"	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.265G>C	12.37:g.51467752C>G	ENSP00000228515:p.Gly89Arg		Somatic				CSRNP2_uc001rxu.2_Missense_Mutation_p.G89R	p.G89R	NM_030809	NP_110436	WXS	Illumina GAIIx	Phase_I	Q9H175	CSRN2_HUMAN			2	777	-			89						Missense_Mutation	SNP	ENST00000228515.1	37	c.265G>C	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099299	0.94197	.	.	ENSG00000110925	ENST00000228515;ENST00000548981	T;T	0.15834	2.39;2.39	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57837	-0.7742	10	0.87932	D	0	-21.8308	17.8355	0.88694	0.0:1.0:0.0:0.0	.	89	Q9H175	CSRN2_HUMAN	R	89	ENSP00000228515:G89R;ENSP00000447657:G89R	ENSP00000228515:G89R	G	-	1	0	CSRNP2	49754019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.565000	0.82337	2.826000	0.97356	0.655000	0.94253	GGT		0.552	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			9	118	0	0	0	1	0	9	118					G	51467752	C	G	51467752	3	3	383	1	0	0	0	0	1	0	0	0	3964	623	22	4	1378	4	CSRNP2	12	51467752	Missense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		51467752	82384143	14	6498											
OR6S1	341799	broad.mit.edu	37	14	21109731	21109731	+	Missense_Mutation	SNP	A	A	T			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr14:21109731A>T	ENST00000320704.3	-	1	119	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCCTGTCAGATTCAGGAGAT	0.473																																						uc001vxv.1																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(118-120)aaT>aaA		Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.							98	96	97					14																	21109731		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109731A>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.120T>A	14.37:g.21109731A>T	ENSP00000313110:p.Asn40Lys		Somatic					p.N40K	NM_001001968	NP_001001968	WXS	Illumina GAIIx	Phase_I	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	0	120	-	all_cancers(95;0.00304)		40					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.120T>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850212	0.32699	.	.	ENSG00000181803	ENST00000320704	T	0.00505	6.93	5.84	2.01	0.26516	.	0.137449	0.33457	N	0.004900	T	0.00412	0.0013	L	0.46157	1.445	0.19945	N	0.99994	B	0.13594	0.008	B	0.15052	0.012	T	0.51268	-0.8727	10	0.87932	D	0	-5.2442	1.7313	0.02932	0.5531:0.1718:0.1086:0.1666	.	40	Q8NH40	OR6S1_HUMAN	K	40	ENSP00000313110:N40K	ENSP00000313110:N40K	N	-	3	2	OR6S1	20179571	0.000000	0.05858	0.994000	0.49952	0.527000	0.34593	-1.501000	0.02281	0.411000	0.25702	0.533000	0.62120	AAT		0.473	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			19	119	0	0	0	1	0	19	119					T	21109731	A	T	21109731	3	4	383	1	0	0	0	0	1	0	0	0	11209	330	12	5	879	5	OR6S1	14	21109731	Missense_Mutation	SNP	A	TCGA-IM-A3EB-01A-11D-A202-08		21109731	86239809	15	6499											
SFRS2	6427	broad.mit.edu	37	17	74732250	74732250	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr17:74732250G>C	ENST00000392485.2	-	2	831	c.659C>G	c.(658-660)tCc>tGc	p.S220C	SRSF2_ENST00000508921.3_Missense_Mutation_p.S208C|SRSF2_ENST00000359995.5_Missense_Mutation_p.S220C|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000586622.1_Intron|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	220	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)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TTCTTAAGAGGACACCGCTCC	0.483			Mis		"MDS, CLL"																																	uc002jsy.4				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"MDS, CLL"		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(658-660)tCc>tGc		Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.							72	79	76					17																	74732250		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding|transcription corepressor activity	g.chr17:74732250G>C	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.659C>G	17.37:g.74732250G>C	ENSP00000376276:p.Ser220Cys		Somatic				SRSF2_uc010wtg.2_Missense_Mutation_p.S208C|SRSF2_uc002jsv.3_Missense_Mutation_p.S220C|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	p.S220C	NM_001195427	NP_001182356	WXS	Illumina GAIIx	Phase_I	Q01130	SRSF2_HUMAN			1	910	-			220			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.659C>G	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.943346|2.943346	0.53079|0.53079	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000358156;ENST00000359995	.|T;T	.|0.40225	.|1.2;1.04	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.377447	.|0.22819	.|N	.|0.055250	T|T	0.27134|0.27134	0.0665|0.0665	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.983;0.983	.|B;B	.|0.43783	.|0.431;0.431	T|T	0.43845|0.43845	-0.9366|-0.9366	6|10	0.87932|0.87932	D|D	0|0	.|.	17.9573|17.9573	0.89073|0.89073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|208;220	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	A|C	170|220;208;200	.|ENSP00000376276:S220C;ENSP00000353089:S200C	ENSP00000391278:P170A|ENSP00000350877:S208C	P|S	-|-	1|2	0|0	SRSF2|SRSF2	72243845|72243845	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.932000|0.932000	0.56968|0.56968	7.517000|7.517000	0.81783|0.81783	2.227000|2.227000	0.72691|0.72691	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.483	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		3	146	0	0	0	1	0	3	146					C	74732250	G	C	74732250	3	2	383	1	0	0	0	0	1	0	0	0	14175	1174	41	4	10	4	SFRS2	17	74732250	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		74732250	6462960	16	6500											
CASP14	23581	broad.mit.edu	37	19	15166255	15166255	+	Nonsense_Mutation	SNP	C	C	T	rs546136139		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr19:15166255C>T	ENST00000427043.3	+	6	843	c.535C>T	c.(535-537)Cga>Tga	p.R179*	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	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)	p.R179*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537													C|||	1	0.000199681	0	0	5008	,	,		18249	0		0.001	False		,,,				2504	0					uc010dzv.2																			1	Substitution - Nonsense(1)	p.R179*(2)	large_intestine(1)	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>Tga		Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.							108	93	98					19																	15166255		2203	4300	6503	SO:0001587	stop_gained	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166255C>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.535C>T	19.37:g.15166255C>T	ENSP00000393417:p.Arg179*		Somatic					p.R179*	NM_012114	NP_036246	WXS	Illumina GAIIx	Phase_I	P31944	CASPE_HUMAN			5	747	+			179					O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	c.535C>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	c	18.14	3.557660	0.65425	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	4.5	2.0	0.26442	.	0.224065	0.30940	N	0.008578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8118	0.34971	0.4818:0.5181:0.0:0.0	.	.	.	.	X	179	.	ENSP00000221740:R179X	R	+	1	2	CASP14	15027255	0.998000	0.40836	0.999000	0.59377	0.061000	0.15899	1.156000	0.31712	0.681000	0.31386	-0.521000	0.04368	CGA		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		3	105	0	0	0	1	0	3	105					T	15166255	C	T	15166255	4	4	383	1	0	0	0	0	0	1	0	0	2670	644	23	1	553	1	CASP14	19	15166255	Nonsense_Mutation	SNP	C	TCGA-IM-A3EB-01A-11D-A202-08		15166255	43962728	17	6501											
SAMSN1	64092	broad.mit.edu	37	21	15893509	15893509	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr21:15893509G>A	ENST00000400566.1	-	2	172	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	SAMSN1_ENST00000285670.2_Missense_Mutation_p.R99W|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	31					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATTATTCCGAAAACGATCG	0.299																																						uc002yjv.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(295-297)Cgg>Tgg		Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.							37	35	36					21																	15893509		1803	4063	5866	SO:0001583	missense	64092				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15893509G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.91C>T	21.37:g.15893509G>A	ENSP00000383411:p.Arg31Trp		Somatic				SAMSN1_uc002yju.1_Missense_Mutation_p.R31W|SAMSN1_uc010gky.1_Intron	p.R99W	NM_022136	NP_071419	WXS	Illumina GAIIx	Phase_I	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	2	470	-			31					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.295C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268103	0.59540	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.52983	0.64;0.64	5.48	3.56	0.40772	.	0.111985	0.56097	N	0.000022	T	0.40119	0.1104	L	0.55743	1.74	0.41321	D	0.987173	B;P	0.42039	0.333;0.769	B;B	0.39562	0.061;0.303	T	0.39461	-0.9613	10	0.66056	D	0.02	-13.6929	7.0454	0.25042	0.0869:0.0:0.5832:0.3299	.	99;31	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	W	99;31	ENSP00000285670:R99W;ENSP00000383411:R31W	ENSP00000285670:R99W	R	-	1	2	SAMSN1	14815380	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.677000	0.46892	1.304000	0.44892	0.557000	0.71058	CGG		0.299	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			5	29	0	0	0	1	0	5	29					A	15893509	G	A	15893509	3	1	383	1	0	0	0	0	1	0	0	0	13830	1057	37	1	1058	1	SAMSN1	21	15893509	Missense_Mutation	SNP	G	TCGA-IM-A3EB-01A-11D-A202-08		15893509	32236386	18	6502											
SYNPO2	171024	broad.mit.edu	37	4	119944646	119944646	+	Missense_Mutation	SNP	T	T	G			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr4:119944646T>G	ENST00000429713.2	+	2	349	c.167T>G	c.(166-168)aTc>aGc	p.I56S	SYNPO2_ENST00000434046.2_Missense_Mutation_p.I56S|SYNPO2_ENST00000448416.2_Missense_Mutation_p.I56S|SYNPO2_ENST00000307142.4_Missense_Mutation_p.I56S	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	56	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGGTTTCCATCAATGGCAAC	0.438																																						uc010inb.3																			0		p.I56I(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(166-168)aTc>aGc		Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.							140	115	123					4																	119944646		2203	4300	6503	SO:0001583	missense	171024					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119944646T>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.167T>G	4.37:g.119944646T>G	ENSP00000395143:p.Ile56Ser		Somatic				SYNPO2_uc010ina.3_Missense_Mutation_p.I56S|SYNPO2_uc003icm.4_Missense_Mutation_p.I56S|SYNPO2_uc011cgh.2_Missense_Mutation_p.I56S|SYNPO2_uc010inc.3_5'UTR	p.I56S	NM_133477	NP_597734	WXS	Illumina GAIIx	Phase_I	Q9UMS6	SYNP2_HUMAN			1	363	+			56			PDZ.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.167T>G	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.523739|4.523739	0.85600|0.85600	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000448416;ENST00000429713;ENST00000434046	.|T;T;T;T	.|0.39592	.|1.07;1.07;1.07;1.07	5.66|5.66	5.66|5.66	0.87406|0.87406	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.68238|0.68238	0.2979|0.2979	M|M	0.85710|0.85710	2.77|2.77	0.52099|0.52099	D|D	0.999942|0.999942	.|D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.984;0.996;0.994;0.99	T|T	0.74166|0.74166	-0.3753|-0.3753	5|10	.|0.87932	.|D	.|0	-20.0087|-20.0087	14.4619|14.4619	0.67456|0.67456	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|56;56;56;56	.|B4E258;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	Q|S	7|56	.|ENSP00000306015:I56S;ENSP00000412623:I56S;ENSP00000395143:I56S;ENSP00000390965:I56S	.|ENSP00000306015:I56S	H|I	+|+	3|2	2|0	SYNPO2|SYNPO2	120164094|120164094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.688000|7.688000	0.84153|0.84153	2.144000|2.144000	0.66660|0.66660	0.528000|0.528000	0.53228|0.53228	CAT|ATC		0.438	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			3	80	0	0	0	1	0	3	80					G	119944646	T	G	119944646	3	3	384	1	0	0	0	0	1	0	0	0	15454	1435	50	5	173	5	SYNPO2	4	119944646	Missense_Mutation	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08		119944646	71209630	1	6503											
SLC7A11	23657	broad.mit.edu	37	4	139163108	139163108	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr4:139163108T>C	ENST00000280612.5	-	1	395	c.116A>G	c.(115-117)cAg>cGg	p.Q39R		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	39					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	CCTCTTCAGCTGCACTTTCTC	0.527																																						uc021xrw.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(115-117)cAg>cGg		Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						145	126	133					4																	139163108		2203	4300	6503	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139163108T>C	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.116A>G	4.37:g.139163108T>C	ENSP00000280612:p.Gln39Arg		Somatic					p.Q39R	NM_014331	NP_055146	WXS	Illumina GAIIx	Phase_I	Q9UPY5	XCT_HUMAN			0	396	-	all_hematologic(180;0.166)		39					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.116A>G	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	T	7.896	0.733404	0.15574	.	.	ENSG00000151012	ENST00000280612	D	0.90385	-2.66	6.03	2.29	0.28610	.	0.226724	0.44688	D	0.000438	T	0.75554	0.3865	N	0.08118	0	0.23720	N	0.997025	B	0.02656	0.0	B	0.04013	0.001	T	0.59359	-0.7469	10	0.15952	T	0.53	.	6.1168	0.20132	0.7431:0.0:0.1319:0.125	.	39	Q9UPY5	XCT_HUMAN	R	39	ENSP00000280612:Q39R	ENSP00000280612:Q39R	Q	-	2	0	SLC7A11	139382558	0.973000	0.33851	0.941000	0.38009	0.624000	0.37722	2.953000	0.49105	0.175000	0.19841	-1.142000	0.01873	CAG		0.527	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			3	91	0	0	0	1	0	3	91					C	139163108	T	C	139163108	3	2	384	1	0	0	0	0	1	0	0	0	14694	1580	55	3	1437	3	SLC7A11	4	139163108	Missense_Mutation	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08	19218462	139163108	51991168	2	6504											
PRDM9	56979	broad.mit.edu	37	5	23527796	23527796	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr5:23527796C>T	ENST00000296682.3	+	11	2781	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	867					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.562										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2599-2601)Cgg>Tgg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							68	76	74					5																	23527796		2181	4298	6479	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527796C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2599C>T	5.37:g.23527796C>T	ENSP00000296682:p.Arg867Trp	HNSCC(3;0.000094)	Somatic					p.R867W	NM_020227	NP_064612	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			10	2781	+			867					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2599C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533934	0.13188	.	.	ENSG00000164256	ENST00000296682	T	0.19806	2.12	2.05	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	M	0.90252	3.1	0.09310	N	1	B	0.21688	0.059	B	0.21546	0.035	T	0.40608	-0.9554	9	0.52906	T	0.07	-0.9186	2.6772	0.05084	0.2161:0.3368:0.0:0.4471	.	867	Q9NQV7	PRDM9_HUMAN	W	867	ENSP00000296682:R867W	ENSP00000296682:R867W	R	+	1	2	PRDM9	23563553	0.036000	0.19791	0.052000	0.19188	0.022000	0.10575	1.395000	0.34520	-0.280000	0.09154	0.472000	0.43445	CGG		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		34	82	0	0	0	1	0	34	82					T	23527796	C	T	23527796	3	4	384	1	0	0	0	0	1	0	0	0	12463	759	27	1	2637	1	PRDM9	5	23527796	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		23527796	157387464	3	6505											
CLIC5	53405	broad.mit.edu	37	6	45917096	45917096	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:45917096G>C	ENST00000185206.6	-	3	825	c.673C>G	c.(673-675)Cta>Gta	p.L225V	CLIC5_ENST00000544153.1_Missense_Mutation_p.L66V|CLIC5_ENST00000339561.6_Missense_Mutation_p.L66V	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	225					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCGGGGGCTAGGTTGTGCAGG	0.542																																						uc003oxv.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(673-675)Cta>Gta		Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							142	133	136					6																	45917096		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45917096G>C	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.673C>G	6.37:g.45917096G>C	ENSP00000185206:p.Leu225Val		Somatic				CLIC5_uc003oxu.3_Missense_Mutation_p.L66V|CLIC5_uc003oxx.3_Missense_Mutation_p.L66V	p.L225V	NM_001114086	NP_001107558	WXS	Illumina GAIIx	Phase_I	Q9NZA1	CLIC5_HUMAN			2	779	-			225					B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.673C>G	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797117	0.70567	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	T;T;T	0.49432	0.78;0.78;0.78	5.73	4.85	0.62838	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.45744	1.44	0.52501	D	0.999951	P;P;P	0.49559	0.925;0.684;0.925	P;P;P	0.55345	0.774;0.694;0.774	T	0.40776	-0.9545	10	0.56958	D	0.05	-22.768	6.9158	0.24359	0.2233:0.0:0.7767:0.0	.	66;225;66	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	V	225;66;66	ENSP00000185206:L225V;ENSP00000344165:L66V;ENSP00000439195:L66V	ENSP00000185206:L225V	L	-	1	2	CLIC5	46025074	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	3.869000	0.56062	2.854000	0.98071	0.655000	0.94253	CTA		0.542	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			48	80	0	0	0	1	0	48	80					C	45917096	G	C	45917096	3	2	384	1	0	0	0	0	1	0	0	0	3529	991	35	4	575	4	CLIC5	6	45917096	Missense_Mutation	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08		45917096	125197971	4	6506											
LCA5	167691	broad.mit.edu	37	6	80228599	80228599	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:80228599C>T	ENST00000392959.1	-	3	624	c.13G>A	c.(13-15)Gca>Aca	p.A5T	LCA5_ENST00000369846.4_Missense_Mutation_p.A5T|LCA5_ENST00000467898.3_Missense_Mutation_p.A5T	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	5					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGACTTCCTGCTCTTTCCCCC	0.388																																						uc003piy.3																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(13-15)Gca>Aca		Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.							294	280	284					6																	80228599		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80228599C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.13G>A	6.37:g.80228599C>T	ENSP00000376686:p.Ala5Thr		Somatic				LCA5_uc003pix.3_Missense_Mutation_p.A5T|LCA5_uc011dyr.2_Missense_Mutation_p.A5T	p.A5T	NM_181714	NP_859065	WXS	Illumina GAIIx	Phase_I	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	2	625	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	5					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.13G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232577	0.39498	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.33216	1.42;1.42	5.28	4.38	0.52667	.	0.595355	0.16631	N	0.206071	T	0.10981	0.0268	N	0.22421	0.69	0.33588	D	0.600789	B;P	0.35272	0.16;0.493	B;B	0.34242	0.082;0.178	T	0.08310	-1.0728	10	0.33940	T	0.23	-1.4967	12.9015	0.58128	0.1612:0.8388:0.0:0.0	.	5;5	B4DRL2;Q86VQ0	.;LCA5_HUMAN	T	5	ENSP00000358861:A5T;ENSP00000376686:A5T	ENSP00000358861:A5T	A	-	1	0	LCA5	80285318	0.379000	0.25123	0.957000	0.39632	0.608000	0.37181	0.032000	0.13732	2.736000	0.93811	0.655000	0.94253	GCA		0.388	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		65	174	0	0	0	1	0	65	174					T	80228599	C	T	80228599	3	4	384	1	0	0	0	0	1	0	0	0	8656	797	28	2	2108	2	LCA5	6	80228599	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08	34311503	80228599	90886468	5	6507											
KLHL32	114792	broad.mit.edu	37	6	97561919	97561919	+	Silent	SNP	G	G	A			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr6:97561919G>A	ENST00000369261.4	+	7	1251	c.888G>A	c.(886-888)ggG>ggA	p.G296G	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.G227G|KLHL32_ENST00000536676.1_Silent_p.G260G	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	296										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCATTGGTGGGAAAAAGCGCG	0.517																																						uc010kcm.1																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(886-888)ggG>ggA		Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.							76	73	74					6																	97561919		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97561919G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.888G>A	6.37:g.97561919G>A			Somatic				KLHL32_uc003poy.3_Silent_p.G296G|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Silent_p.G260G|KLHL32_uc011eae.1_Silent_p.G227G|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	p.G296G	NM_052904	NP_443136	WXS	Illumina GAIIx	Phase_I	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	6	1360	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	296					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.888G>A	CCDS5038.1																																																																																				0.517	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		18	44	0	0	0	1	0	18	44					A	97561919	G	A	97561919	2	1	384	1	0	0	0	0	0	0	0	1	8386	1161	41	2		2	KLHL32	6	97561919	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08	17333320	97561919	73553148	6	6508											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	61	0	0	0	1	0	25	61					T	140453136	A	T	140453136	3	4	384	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3ED-01A-11D-A202-08		140453136	18685527	7	6509											
EPHB6	2051	broad.mit.edu	37	7	142565403	142565403	+	Silent	SNP	G	G	C			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr7:142565403G>C	ENST00000392957.2	+	12	2575	c.1788G>C	c.(1786-1788)gtG>gtC	p.V596V	EPHB6_ENST00000411471.2_Silent_p.V319V|EPHB6_ENST00000442129.1_Silent_p.V596V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	596						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCTCCTTGGTGATCGGCTCCA	0.637																																						uc011kst.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1786-1788)gtG>gtC		Homo sapiens EPH receptor B6 (EPHB6), mRNA.							60	58	58					7																	142565403		2203	4300	6503	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142565403G>C	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1788G>C	7.37:g.142565403G>C			Somatic				EPHB6_uc011ksu.2_Silent_p.V596V|EPHB6_uc003wbs.3_Silent_p.V304V|EPHB6_uc003wbt.3_Silent_p.V70V|EPHB6_uc003wbu.3_Silent_p.V304V|EPHB6_uc003wbv.3_5'UTR	p.V596V	NM_004445	NP_004436	WXS	Illumina GAIIx	Phase_I	O15197	EPHB6_HUMAN			11	2575	+	Melanoma(164;0.059)		596					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1788G>C	CCDS5873.2																																																																																				0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			10	12	0	0	0	1	0	10	12					C	142565403	G	C	142565403	2	2	384	1	0	0	0	0	0	0	0	1	5178	1277	45	4		4	EPHB6	7	142565403	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08	2112267	142565403	16573260	8	6510											
GRIN3A	116443	broad.mit.edu	37	9	104432410	104432410	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr9:104432410C>T	ENST00000361820.3	-	3	2884	c.2284G>A	c.(2284-2286)Gca>Aca	p.A762T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	762					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCCAAGTTTGCCGTGTATGTG	0.418																																						uc004bbp.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2284-2286)Gca>Aca		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						87	84	85					9																	104432410		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	g.chr9:104432410C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2284G>A	9.37:g.104432410C>T	ENSP00000355155:p.Ala762Thr		Somatic				GRIN3A_uc004bbq.1_Missense_Mutation_p.A762T	p.A762T	NM_133445	NP_597702	WXS	Illumina GAIIx	Phase_I	Q8TCU5	NMD3A_HUMAN			2	2885	-		Acute lymphoblastic leukemia(62;0.0568)	762					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2284G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724824	0.89298	.	.	ENSG00000198785	ENST00000361820	T	0.74315	-0.83	5.43	5.43	0.79202	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.89993	0.6876	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91847	0.5488	10	0.87932	D	0	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	762	Q8TCU5	NMD3A_HUMAN	T	762	ENSP00000355155:A762T	ENSP00000355155:A762T	A	-	1	0	GRIN3A	103472231	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	7.776000	0.85560	2.718000	0.92993	0.585000	0.79938	GCA		0.418	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			3	78	0	0	0	1	0	3	78					T	104432410	C	T	104432410	3	4	384	1	0	0	0	0	1	0	0	0	6783	739	26	2	1091	2	GRIN3A	9	104432410	Missense_Mutation	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		104432410	36781021	9	6511											
CACNA1B	774	broad.mit.edu	37	9	140953611	140953611	+	Silent	SNP	C	C	T	rs575117282		TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr9:140953611C>T	ENST00000371372.1	+	30	4699	c.4554C>T	c.(4552-4554)tgC>tgT	p.C1518C	CACNA1B_ENST00000371355.4_Silent_p.C1519C|CACNA1B_ENST00000371357.1_Silent_p.C1519C|CACNA1B_ENST00000277549.5_Silent_p.C714C|CACNA1B_ENST00000277551.2_Silent_p.C1518C|CACNA1B_ENST00000371363.1_Silent_p.C1518C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1518					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)	CCATGGAATGCGTGCTGAAGA	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		22159	0		0	False		,,,				2504	0					uc004cog.3																			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.(4552-4554)tgC>tgT		Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	Amlodipine(DB00381)|Gabapentin(DB00996)						136	129	131					9																	140953611		2147	4245	6392	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140953611C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4554C>T	9.37:g.140953611C>T			Somatic				CACNA1B_uc022bqn.1_Silent_p.C1518C|CACNA1B_uc011mfd.2_Silent_p.C1119C|CACNA1B_uc004coi.3_Silent_p.C732C	p.C1518C	NM_000718	NP_000709	WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	29	4699	+	all_cancers(76;0.166)		1518					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.4554C>T	CCDS59522.1																																																																																				0.507	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		13	15	0	0	0	1	0	13	15					T	140953611	C	T	140953611	2	4	384	1	0	0	0	0	0	0	0	1	2539	776	27	1		1	CACNA1B	9	140953611	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08	36521201	140953611	259820	10	6512											
ANK3	288	broad.mit.edu	37	10	61835632	61835632	+	Silent	SNP	C	C	T			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr10:61835632C>T	ENST00000280772.2	-	37	5198	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1669	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGATATTAGCGGTGCTGCTG	0.393																																						uc001jky.3																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5005-5007)ccG>ccA		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							127	121	123					10																	61835632		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835632C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5007G>A	10.37:g.61835632C>T			Somatic				ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	p.P1669P	NM_020987	NP_066267	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			36	5345	-			1669			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5007G>A	CCDS7258.1																																																																																				0.393	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		27	77	0	0	0	1	0	27	77					T	61835632	C	T	61835632	2	4	384	1	0	0	0	0	0	0	0	1	622	755	27	1		1	ANK3	10	61835632	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		61835632	73699115	11	6513											
TMEM132A	54972	broad.mit.edu	37	11	60694815	60694815	+	Silent	SNP	C	C	A			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr11:60694815C>A	ENST00000453848.2	+	2	398	c.240C>A	c.(238-240)acC>acA	p.T80T	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Silent_p.T80T			Q24JP5	T132A_HUMAN	transmembrane protein 132A	80						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						GATCTGAGACCTTTCTGCTCC	0.647																																						uc001nqi.3																			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.(238-240)acC>acA		Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.							50	55	53					11																	60694815		2203	4299	6502	SO:0001819	synonymous_variant	54972					Golgi membrane|endoplasmic reticulum membrane|integral to membrane		g.chr11:60694815C>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.240C>A	11.37:g.60694815C>A			Somatic				TMEM132A_uc001nqj.3_Silent_p.T80T|TMEM132A_uc001nqk.3_Silent_p.T93T|TMEM132A_uc001nql.1_Silent_p.T93T	p.T80T	NM_017870	NP_060340	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			1	433	+			80					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.240C>A	CCDS44618.1																																																																																				0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		4	127	0	0	0	1	0	4	127					A	60694815	C	A	60694815	2	1	384	1	0	0	0	0	0	0	0	1	16042	668	24	4		4	TMEM132A	11	60694815	Silent	SNP	C	TCGA-IM-A3ED-01A-11D-A202-08		60694815	74311701	12	6514											
FBXW8	26259	broad.mit.edu	37	12	117402520	117402520	+	Silent	SNP	G	G	A	rs200172747		TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr12:117402520G>A	ENST00000309909.5	+	5	778	c.696G>A	c.(694-696)gtG>gtA	p.V232V	FBXW8_ENST00000455858.2_Silent_p.V166V			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	232					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CAGGGGATGTGAGAGTGTGGG	0.522																																						uc001twg.1																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(694-696)gtG>gtA		Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.							221	207	212					12																	117402520		2203	4300	6503	SO:0001819	synonymous_variant	26259						protein binding	g.chr12:117402520G>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.696G>A	12.37:g.117402520G>A			Somatic				FBXW8_uc001twf.1_Silent_p.V166V	p.V232V	NM_153348	NP_699179	WXS	Illumina GAIIx	Phase_I	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	4	778	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		232					Q9UK95	Silent	SNP	ENST00000309909.5	37	c.696G>A	CCDS9182.1																																																																																				0.522	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		75	183	0	0	0	1	0	75	183					A	117402520	G	A	117402520	2	1	384	1	0	0	0	0	0	0	0	1	5770	1277	45	2		2	FBXW8	12	117402520	Silent	SNP	G	TCGA-IM-A3ED-01A-11D-A202-08		117402520	16449375	13	6515											
MIA2	117153	broad.mit.edu	37	14	39716388	39716388	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr14:39716388A>G	ENST00000280082.3	+	4	809	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	MIA2_ENST00000556784.1_Missense_Mutation_p.M203V|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.M204V	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	204					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGTTGAAAGTATGGAACAGGA	0.433																																						uc001wux.3																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31						c.(610-612)Atg>Gtg		Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.							91	91	91					14																	39716388		2203	4300	6503	SO:0001583	missense	117153					extracellular region		g.chr14:39716388A>G	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.610A>G	14.37:g.39716388A>G	ENSP00000280082:p.Met204Val		Somatic				MIA2_uc010amy.2_Missense_Mutation_p.M135V	p.M204V	NM_054024	NP_473365	WXS	Illumina GAIIx	Phase_I	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	3	804	+	Hepatocellular(127;0.213)		204					A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.610A>G	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.287599	0.00248	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.39592	1.07;1.08;3.39	5.11	-7.15	0.01521	.	0.886036	0.09343	N	0.815131	T	0.13157	0.0319	N	0.03177	-0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24404	-1.0161	9	.	.	.	-27.3092	4.6197	0.12444	0.5145:0.1859:0.2194:0.0802	.	204;204	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	V	204;203;204	ENSP00000280082:M204V;ENSP00000451934:M203V;ENSP00000452252:M204V	.	M	+	1	0	MIA2;RP11-407N17.3	38786139	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.661000	0.05311	-1.110000	0.02992	-0.132000	0.14878	ATG		0.433	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		3	79	0	0	0	1	0	3	79					G	39716388	A	G	39716388	3	3	384	1	0	0	0	0	1	0	0	0	9564	449	16	3	624	3	MIA2	14	39716388	Missense_Mutation	SNP	A	TCGA-IM-A3ED-01A-11D-A202-08		39716388	67633152	14	6516											
NOTCH3	4854	broad.mit.edu	37	19	15289709	15289709	+	Silent	SNP	T	T	A			TCGA-IM-A3ED-01A-11D-A202-08	TCGA-IM-A3ED-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7d3599f-0218-4d1d-aed8-c45c188cd71d	ea16b689-e941-4ea0-ad31-9504e19ed28b	g.chr19:15289709T>A	ENST00000263388.2	-	23	3837	c.3762A>T	c.(3760-3762)ccA>ccT	p.P1254P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1254	EGF-like 32. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATGCTGGCATGGCTGGGACT	0.652																																						uc002nan.3																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(3760-3762)ccA>ccT		Homo sapiens notch 3 (NOTCH3), mRNA.							38	36	37					19																	15289709		2201	4299	6500	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15289709T>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3762A>T	19.37:g.15289709T>A			Somatic				NOTCH3_uc002nao.1_Silent_p.P1202P	p.P1254P	NM_000435	NP_000426	WXS	Illumina GAIIx	Phase_I	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		22	3838	-			1254			EGF-like 32.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.3762A>T	CCDS12326.1																																																																																				0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		5	12	0	0	0	1	0	5	12					A	15289709	T	A	15289709	2	1	384	1	0	0	0	0	0	0	0	1	10550	1451	51	5		5	NOTCH3	19	15289709	Silent	SNP	T	TCGA-IM-A3ED-01A-11D-A202-08		15289709	43839274	15	6517											
ERRFI1	54206	broad.mit.edu	37	1	8074413	8074413	+	Silent	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:8074413T>A	ENST00000377482.5	-	4	469	c.246A>T	c.(244-246)gcA>gcT	p.A82A	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_Nonsense_Mutation_p.R57*|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	82					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GACCATTTTCTGCAAAGCAGT	0.443																																						uc001aoz.3																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(244-246)gcA>gcT		Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.							114	119	117					1																	8074413		2200	4292	6492	SO:0001819	synonymous_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding	g.chr1:8074413T>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.246A>T	1.37:g.8074413T>A			Somatic				ERRFI1_uc001apa.1_Silent_p.A7A	p.A82A	NM_018948	NP_061821	WXS	Illumina GAIIx	Phase_I	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	495	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	82					B2RDX9|Q9NTG9|Q9UD05	Silent	SNP	ENST00000377482.5	37	c.246A>T	CCDS94.1																																																																																				0.443	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		4	256	0	0	0	1	0	4	256					A	8074413	T	A	8074413	2	1	385	1	0	0	0	0	0	0	0	1	5244	1567	55	5		5	ERRFI1	1	8074413	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		8074413	241176208	1	6518											
ELOVL1	64834	broad.mit.edu	37	1	43830608	43830608	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:43830608C>G	ENST00000372458.3	-	4	426	c.309G>C	c.(307-309)gaG>gaC	p.E103D	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Intron	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	103					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTAAGTGCCTCAGGGCTGT	0.557																																						uc001cjb.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(307-309)gaG>gaC		Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.							50	47	48					1																	43830608		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830608C>G	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.309G>C	1.37:g.43830608C>G	ENSP00000361536:p.Glu103Asp		Somatic				ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Intron	p.E103D	NM_022821	NP_073732	WXS	Illumina GAIIx	Phase_I	Q9BW60	ELOV1_HUMAN			3	437	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	103					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.309G>C	CCDS485.1	.	.	.	.	.	.	.	.	.	.	C	6.398	0.441551	0.12164	.	.	ENSG00000066322	ENST00000372458	T	0.22336	1.96	5.77	2.89	0.33648	.	0.208186	0.51477	D	0.000086	T	0.10465	0.0256	N	0.11313	0.125	0.80722	D	1	B	0.29805	0.257	B	0.36030	0.216	T	0.21621	-1.0240	10	0.13470	T	0.59	.	6.4151	0.21712	0.128:0.665:0.0:0.207	.	103	Q9BW60	ELOV1_HUMAN	D	103	ENSP00000361536:E103D	ENSP00000361536:E103D	E	-	3	2	ELOVL1	43603195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.990000	0.29642	0.357000	0.24183	-0.793000	0.03317	GAG		0.557	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		15	30	0	0	0	1	0	15	30					G	43830608	C	G	43830608	3	3	385	1	0	0	0	0	1	0	0	0	5073	680	24	4	550	4	ELOVL1	1	43830608	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	35756195	43830608	205420013	2	6519											
ADAM30	11085	broad.mit.edu	37	1	120436924	120436924	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:120436924C>A	ENST00000369400.1	-	1	2194	c.2036G>T	c.(2035-2037)aGa>aTa	p.R679I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	679					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATCGCCCCTCTGAGCAGTCC	0.468																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(2035-2037)aGa>aTa		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							63	62	62					1																	120436924		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436924C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2036G>T	1.37:g.120436924C>A	ENSP00000358407:p.Arg679Ile		Somatic					p.R679I	NM_021794	NP_068566	WXS	Illumina GAIIx	Phase_I	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	2224	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	679					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.2036G>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489260	0.26686	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01234	5.13	5.05	-10.1	0.00402	.	.	.	.	.	T	0.00356	0.0011	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47886	-0.9082	9	0.39692	T	0.17	.	1.978	0.03420	0.2494:0.3937:0.0882:0.2687	.	679	Q9UKF2	ADA30_HUMAN	I	679	ENSP00000358407:R679I	ENSP00000358407:R679I	R	-	2	0	ADAM30	120238447	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.750000	0.01328	-0.150000	0.13652	AGA		0.468	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		3	98	0	0	0	1	0	3	98					A	120436924	C	A	120436924	3	1	385	1	0	0	0	0	1	0	0	0	248	913	32	4	340	4	ADAM30	1	120436924	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	76606316	120436924	128813697	3	6520											
SETDB1	9869	broad.mit.edu	37	1	150936158	150936158	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:150936158G>A	ENST00000271640.5	+	20	3800	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1204K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1204	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATGATGGCGAGGAGTCTTG	0.517																																						uc001evu.2																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3610-3612)Gag>Aag		Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.							146	134	138					1																	150936158		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936158G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3610G>A	1.37:g.150936158G>A	ENSP00000271640:p.Glu1204Lys		Somatic				SETDB1_uc001evv.2_Missense_Mutation_p.E1204K|SETDB1_uc009wmg.2_Missense_Mutation_p.E1204K	p.E1204K	NM_001145415	NP_001138887	WXS	Illumina GAIIx	Phase_I	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3800	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1204			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3610G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836373	0.97009	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.82255	-1.59;-1.59;-1.59	5.65	5.65	0.86999	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	L	0.35542	1.07	0.80722	D	1	D;P;D	0.89917	1.0;0.938;0.999	D;P;D	0.83275	0.996;0.719;0.995	T	0.82041	-0.0654	10	0.31617	T	0.26	.	19.7163	0.96122	0.0:0.0:1.0:0.0	.	1204;1204;1204	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	K	1204	ENSP00000271640:E1204K;ENSP00000357965:E1204K;ENSP00000432348:E1204K	ENSP00000271640:E1204K	E	+	1	0	SETDB1	149202782	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	9.806000	0.99153	2.667000	0.90743	0.455000	0.32223	GAG		0.517	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			129	148	0	0	0	1	0	129	148					A	150936158	G	A	150936158	3	1	385	1	0	0	0	0	1	0	0	0	14138	1059	37	1	3684	1	SETDB1	1	150936158	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	30499234	150936158	98314463	4	6521											
FLG	2312	broad.mit.edu	37	1	152275908	152275908	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:152275908C>T	ENST00000368799.1	-	3	11489	c.11454G>A	c.(11452-11454)caG>caA	p.Q3818Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3818	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTCCTGACTGTTCCTCAT	0.582									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11452-11454)caG>caA		Homo sapiens filaggrin (FLG), mRNA.							353	347	349					1																	152275908		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275908C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11454G>A	1.37:g.152275908C>T			Somatic					p.Q3818Q	NM_002016	NP_002007	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11490	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3818			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11454G>A	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	611	0	0	0	1	0	5	611					T	152275908	C	T	152275908	2	4	385	1	0	0	0	0	0	0	0	1	5922	564	20	2		2	FLG	1	152275908	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	1339750	152275908	96974713	5	6522											
ASH1L	55870	broad.mit.edu	37	1	155307970	155307970	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:155307970T>C	ENST00000368346.3	-	27	9367	c.8728A>G	c.(8728-8730)Acc>Gcc	p.T2910A	ASH1L_ENST00000392403.3_Missense_Mutation_p.T2905A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2910					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGGTACAGGTTGACTGGGGT	0.488																																						uc009wqq.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8728-8730)Acc>Gcc		Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.							220	181	194					1																	155307970		2203	4300	6503	SO:0001583	missense	55870				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155307970T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8728A>G	1.37:g.155307970T>C	ENSP00000357330:p.Thr2910Ala		Somatic				ASH1L_uc001fkt.3_Missense_Mutation_p.T2905A	p.T2910A	NM_018489	NP_060959	WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		26	9208	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2910					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8728A>G		.	.	.	.	.	.	.	.	.	.	T	0.040	-1.289941	0.01387	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.87571	-2.27;-2.27	5.53	3.53	0.40419	.	0.896397	0.09979	N	0.731268	T	0.46737	0.1408	N	0.08118	0	0.34129	D	0.665037	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41502	-0.9505	10	0.02654	T	1	.	3.3304	0.07082	0.1635:0.5333:0.2088:0.0944	.	2910;2905	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	2910;2905	ENSP00000357330:T2910A;ENSP00000376204:T2905A	ENSP00000357330:T2910A	T	-	1	0	ASH1L	153574594	0.209000	0.23505	0.910000	0.35882	0.418000	0.31294	0.442000	0.21628	1.540000	0.49301	-0.242000	0.12053	ACC		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		34	89	0	0	0	1	0	34	89					C	155307970	T	C	155307970	3	2	385	1	0	0	0	0	1	0	0	0	1041	1725	60	3	189	3	ASH1L	1	155307970	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	3032062	155307970	93942651	6	6523											
HEATR1	55127	broad.mit.edu	37	1	236729279	236729279	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:236729279G>C	ENST00000366582.3	-	31	4489	c.4375C>G	c.(4375-4377)Cag>Gag	p.Q1459E	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1378E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1459					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGTATCTGATGCTGGACA	0.378																																						uc001hyd.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(4375-4377)Cag>Gag		Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.							125	118	120					1																	236729279		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236729279G>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4375C>G	1.37:g.236729279G>C	ENSP00000355541:p.Gln1459Glu		Somatic				HEATR1_uc009xgh.2_Missense_Mutation_p.Q621E	p.Q1459E	NM_018072	NP_060542	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		30	4527	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1459					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.4375C>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486495	0.84854	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65178	-0.14;1.53	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.66506	2.035	0.80722	D	1	P;D	0.76494	0.895;0.999	P;D	0.71656	0.57;0.974	T	0.80144	-0.1505	10	0.66056	D	0.02	.	17.8195	0.88645	0.0:0.0:1.0:0.0	.	1378;1459	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	E	1459;1378	ENSP00000355541:Q1459E;ENSP00000355540:Q1378E	ENSP00000355540:Q1378E	Q	-	1	0	HEATR1	234795902	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	8.240000	0.89813	2.423000	0.82170	0.655000	0.94253	CAG		0.378	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		34	58	0	0	0	1	0	34	58					C	236729279	G	C	236729279	3	2	385	1	0	0	0	0	1	0	0	0	7027	1299	45	4	2119	4	HEATR1	1	236729279	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	81421309	236729279	12521342	7	6524											
IL1R1	3554	broad.mit.edu	37	2	102781357	102781357	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:102781357G>A	ENST00000410023.1	+	4	503	c.185G>A	c.(184-186)aGc>aAc	p.S62N	IL1R1_ENST00000409929.1_Missense_Mutation_p.S62N|IL1R1_ENST00000424272.1_Missense_Mutation_p.S62N|IL1R1_ENST00000233946.3_Missense_Mutation_p.S62N|IL1R1_ENST00000409288.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409329.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409589.1_Missense_Mutation_p.S62N			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	62	Ig-like C2-type 1.				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)	AAAGATGACAGCAAGACACCT	0.383																																						uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(184-186)aGc>aAc		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)						114	104	107					2																	102781357		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.chr2:102781357G>A	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.185G>A	2.37:g.102781357G>A	ENSP00000386380:p.Ser62Asn		Somatic				IL1R1_uc010fix.3_Missense_Mutation_p.S62N|IL1R1_uc002tbr.3_Missense_Mutation_p.S62N	p.S62N	NM_000877	NP_000868	WXS	Illumina GAIIx	Phase_I	P14778	IL1R1_HUMAN			3	503	+			62			Ig-like C2-type 1.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.185G>A	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897012	0.17686	.	.	ENSG00000115594	ENST00000452403;ENST00000409929;ENST00000424272;ENST00000409589;ENST00000409329;ENST00000450319;ENST00000442590;ENST00000409288;ENST00000410023;ENST00000233946;ENST00000430171	T;T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;0.23;-0.4;-0.4;0.23;-0.4;-0.4;-0.4;0.23	5.63	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220091	0.56097	N	0.000038	T	0.64724	0.2624	M	0.74258	2.255	0.09310	N	0.999999	B;B;P	0.36171	0.043;0.039;0.541	B;B;B	0.37480	0.021;0.017;0.251	T	0.59500	-0.7443	10	0.36615	T	0.2	.	9.1598	0.37016	0.1662:0.0:0.8338:0.0	.	62;62;62	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	N	62	ENSP00000386776:S62N;ENSP00000415366:S62N;ENSP00000386555:S62N;ENSP00000387131:S62N;ENSP00000411627:S62N;ENSP00000393296:S62N;ENSP00000386478:S62N;ENSP00000386380:S62N;ENSP00000233946:S62N;ENSP00000408101:S62N	ENSP00000233946:S62N	S	+	2	0	IL1R1	102147789	0.159000	0.22864	0.508000	0.27688	0.310000	0.27922	1.405000	0.34635	1.532000	0.49169	0.655000	0.94253	AGC		0.383	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			3	92	0	0	0	1	0	3	92					A	102781357	G	A	102781357	3	1	385	1	0	0	0	0	1	0	0	0	7658	971	34	2	191	2	IL1R1	2	102781357	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		102781357	140418016	8	6525											
ZNF804A	91752	broad.mit.edu	37	2	185801992	185801992	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:185801992G>C	ENST00000302277.6	+	4	2463	c.1869G>C	c.(1867-1869)gaG>gaC	p.E623D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	623							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGAAGCAGAGAATAGTTACA	0.338																																						uc002uph.3																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1867-1869)gaG>gaC		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							93	102	99					2																	185801992		2203	4298	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801992G>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1869G>C	2.37:g.185801992G>C	ENSP00000303252:p.Glu623Asp		Somatic					p.E623D	NM_194250	NP_919226	WXS	Illumina GAIIx	Phase_I	Q7Z570	Z804A_HUMAN			3	2463	+			623					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1869G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	1.725	-0.495507	0.04291	.	.	ENSG00000170396	ENST00000302277	T	0.06768	3.26	5.51	-4.13	0.03904	.	0.867750	0.09913	N	0.739495	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44314	-0.9336	10	0.21014	T	0.42	0.3984	5.3017	0.15781	0.2526:0.5183:0.1294:0.0998	.	623	Q7Z570	Z804A_HUMAN	D	623	ENSP00000303252:E623D	ENSP00000303252:E623D	E	+	3	2	ZNF804A	185510237	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.171000	0.09883	-0.729000	0.04875	-0.176000	0.13171	GAG		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		5	262	0	0	0	1	0	5	262					C	185801992	G	C	185801992	3	2	385	1	0	0	0	0	1	0	0	0	18167	933	33	4	1883	4	ZNF804A	2	185801992	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	83020635	185801992	57397381	9	6526											
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1783-1785)aaA>aaG		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							126	126	126					2																	227945177		1858	4099	5957	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945177T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C			Somatic				COL4A4_uc021vxs.1_Silent_p.K595K	p.K595K	NM_000092	NP_000083	WXS	Illumina GAIIx	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	22	1886	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	595			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.1785A>G	CCDS42828.1																																																																																				0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		3	221	0	0	0	1	0	3	221					C	227945177	T	C	227945177	2	2	385	1	0	0	0	0	0	0	0	1	3693	1606	56	3		3	COL4A4	2	227945177	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	42143185	227945177	15254196	10	6527											
FANCD2	2177	broad.mit.edu	37	3	10106529	10106529	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:10106529G>A	ENST00000419585.1	+	23	2299	c.2138G>A	c.(2137-2139)gGt>gAt	p.G713D	FANCD2_ENST00000383807.1_Missense_Mutation_p.G713D|FANCD2_ENST00000383806.1_Missense_Mutation_p.G713D|FANCD2_ENST00000287647.3_Missense_Mutation_p.G713D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	713					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)		AAAGATGGGGGTCCGGTGACC	0.463			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			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.(2137-2139)gGt>gAt	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.							98	108	105					3																	10106529		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10106529G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2138G>A	3.37:g.10106529G>A	ENSP00000398754:p.Gly713Asp		Somatic				FANCD2_uc003bux.1_Missense_Mutation_p.G713D|FANCD2_uc003buy.1_Missense_Mutation_p.G713D|FANCD2_uc010hcw.1_Non-coding_Transcript	p.G713D	NM_033084	NP_149075	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	22	2216	+			713					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2138G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	3.692	-0.063396	0.07273	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.65	3.78	0.43462	.	0.608262	0.19262	N	0.118659	T	0.27419	0.0673	N	0.20685	0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.004;0.006	T	0.13361	-1.0512	10	0.12103	T	0.63	.	14.1836	0.65590	0.0:0.311:0.689:0.0	.	713;713	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	D	713	ENSP00000287647:G713D;ENSP00000373318:G713D;ENSP00000373317:G713D;ENSP00000398754:G713D	ENSP00000287647:G713D	G	+	2	0	FANCD2	10081529	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.182000	0.16900	0.794000	0.33899	0.585000	0.79938	GGT		0.463	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			4	243	0	0	0	1	0	4	243					A	10106529	G	A	10106529	3	1	385	1	0	0	0	0	1	0	0	0	5665	1261	44	2	2224	2	FANCD2	3	10106529	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		10106529	187915901	11	6528											
CPZ	8532	broad.mit.edu	37	4	8605771	8605771	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:8605771T>A	ENST00000360986.4	+	4	739	c.565T>A	c.(565-567)Tcc>Acc	p.S189T	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.S178T|CPZ_ENST00000382480.2_Missense_Mutation_p.S52T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	189					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCCACCACTCCTACGCCCA	0.697																																						uc003glm.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(565-567)Tcc>Acc		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.							29	24	26					4																	8605771		2169	4264	6433	SO:0001583	missense	8532				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605771T>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.565T>A	4.37:g.8605771T>A	ENSP00000354255:p.Ser189Thr		Somatic				CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.S178T|CPZ_uc003gln.3_Missense_Mutation_p.S52T	p.S189T	NM_001014447	NP_001014448	WXS	Illumina GAIIx	Phase_I	Q66K79	CBPZ_HUMAN			3	739	+			189					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.565T>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711953	0.30322	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03386	3.95;3.95;3.95	3.86	2.68	0.31781	.	0.481325	0.23556	N	0.046902	T	0.05547	0.0146	M	0.65498	2.005	0.80722	D	1	B;B	0.33904	0.423;0.431	B;B	0.37422	0.249;0.178	T	0.28870	-1.0030	10	0.51188	T	0.08	-27.092	4.4065	0.11411	0.1733:0.0955:0.0:0.7311	.	178;189	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	189;52;178	ENSP00000354255:S189T;ENSP00000371920:S52T;ENSP00000315074:S178T	ENSP00000315074:S178T	S	+	1	0	CPZ	8656671	0.997000	0.39634	1.000000	0.80357	0.611000	0.37282	1.520000	0.35899	0.555000	0.29079	0.454000	0.30748	TCC		0.697	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	67	0	0	0	1	0	5	67					A	8605771	T	A	8605771	3	1	385	1	0	0	0	0	1	0	0	0	3839	1551	54	5	579	5	CPZ	4	8605771	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		8605771	182548505	12	6529											
POLR2B	5431	broad.mit.edu	37	4	57889901	57889901	+	Missense_Mutation	SNP	T	T	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:57889901T>G	ENST00000381227.1	+	21	3253	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	POLR2B_ENST00000314595.5_Missense_Mutation_p.I947S|POLR2B_ENST00000441246.2_Missense_Mutation_p.I940S|POLR2B_ENST00000431623.2_Missense_Mutation_p.I872S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	947					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACTTGTGGTATTCAGTATAGA	0.333																																						uc003hcl.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2839-2841)aTt>aGt		Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.							89	88	88					4																	57889901		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889901T>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2840T>G	4.37:g.57889901T>G	ENSP00000370625:p.Ile947Ser		Somatic				POLR2B_uc011cae.1_Missense_Mutation_p.I940S|POLR2B_uc011caf.1_Missense_Mutation_p.I872S|POLR2B_uc003hcm.1_Missense_Mutation_p.I440S	p.I947S	NM_000938	NP_000929	WXS	Illumina GAIIx	Phase_I	P30876	RPB2_HUMAN			19	2883	+	Glioma(25;0.08)|all_neural(26;0.181)		947					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2840T>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068974	0.76301	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.86	5.86	0.93980	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.90019	3.08	0.80722	D	1	P;P	0.42620	0.589;0.785	P;P	0.56474	0.799;0.799	D	0.89751	0.3940	10	0.87932	D	0	.	11.3568	0.49620	0.1353:0.0:0.0:0.8647	.	872;947	C9J4M6;P30876	.;RPB2_HUMAN	S	947;872;940;947	ENSP00000370625:I947S;ENSP00000391096:I872S;ENSP00000391452:I940S;ENSP00000312735:I947S	ENSP00000312735:I947S	I	+	2	0	POLR2B	57584658	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.029000	0.88807	2.237000	0.73441	0.460000	0.39030	ATT		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		60	98	0	0	0	1	0	60	98					G	57889901	T	G	57889901	3	3	385	1	0	0	0	0	1	0	0	0	12215	1493	52	5	2918	5	POLR2B	4	57889901	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	49284130	57889901	133264375	13	6530											
DMXL1	1657	broad.mit.edu	37	5	118556676	118556676	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:118556676C>A	ENST00000311085.8	+	36	8194	c.8114C>A	c.(8113-8115)aCa>aAa	p.T2705K	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.T2726K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2705										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)		GATGATTTAACAGCTGTTCAA	0.388																																						uc010jcl.1																			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.(8176-8178)aCa>aAa		Homo sapiens Dmx-like 1 (DMXL1), mRNA.							102	96	98					5																	118556676		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118556676C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8114C>A	5.37:g.118556676C>A	ENSP00000309690:p.Thr2705Lys		Somatic				DMXL1_uc003ksd.2_Missense_Mutation_p.T2705K|DMXL1_uc021ycw.1_Missense_Mutation_p.T2532K	p.T2726K	NM_005509	NP_005500	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	36	8358	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2705						Missense_Mutation	SNP	ENST00000311085.8	37	c.8177C>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885651	0.17540	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09255	3.01;3.0	5.15	4.28	0.50868	.	0.296401	0.36200	N	0.002723	T	0.04543	0.0124	N	0.03608	-0.345	0.25894	N	0.983435	B;B	0.21309	0.054;0.018	B;B	0.23574	0.047;0.021	T	0.36286	-0.9754	10	0.28530	T	0.3	-2.2964	6.8607	0.24066	0.0:0.6836:0.1469:0.1696	.	2726;2705	F5H269;Q9Y485	.;DMXL1_HUMAN	K	2705;2726	ENSP00000309690:T2705K;ENSP00000439479:T2726K	ENSP00000309690:T2705K	T	+	2	0	DMXL1	118584575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.805000	0.27112	1.178000	0.42870	0.563000	0.77884	ACA		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		3	100	0	0	0	1	0	3	100					A	118556676	C	A	118556676	3	1	385	1	0	0	0	0	1	0	0	0	4594	478	17	4	8256	4	DMXL1	5	118556676	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		118556676	62358584	14	6531											
PSD2	84249	broad.mit.edu	37	5	139216458	139216458	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:139216458C>T	ENST00000274710.3	+	10	1671	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	489					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGGCACGAAGAAGGTG	0.592																																						uc003leu.1																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1465-1467)aCg>aTg		Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.							171	153	159					5																	139216458		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216458C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1466C>T	5.37:g.139216458C>T	ENSP00000274710:p.Thr489Met		Somatic					p.T489M	NM_032289	NP_115665	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1671	+			489					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1466C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800130	0.50208	.	.	ENSG00000146005	ENST00000274710	T	0.12465	2.68	5.37	3.5	0.40072	.	0.368838	0.31041	N	0.008370	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	0.999997	D	0.61697	0.99	P	0.49361	0.608	T	0.09840	-1.0656	10	0.42905	T	0.14	.	11.0402	0.47827	0.0:0.8407:0.0:0.1593	.	489	Q9BQI7	PSD2_HUMAN	M	489	ENSP00000274710:T489M	ENSP00000274710:T489M	T	+	2	0	PSD2	139196642	0.967000	0.33354	0.775000	0.31657	0.778000	0.44026	2.568000	0.45965	0.576000	0.29452	-0.378000	0.06908	ACG		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		6	201	0	0	0	1	0	6	201					T	139216458	C	T	139216458	3	4	385	1	0	0	0	0	1	0	0	0	12647	536	19	1	1500	1	PSD2	5	139216458	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	20659782	139216458	41698802	15	6532											
DBN1	1627	broad.mit.edu	37	5	176893991	176893991	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:176893991G>A	ENST00000309007.5	-	7	847	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	DBN1_ENST00000393565.1_Missense_Mutation_p.R210W|DBN1_ENST00000292385.5_Missense_Mutation_p.R212W	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	210					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TGCTCCATCCGCTCCTGCTCG	0.667																																						uc003mgx.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(634-636)Cgg>Tgg		Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.							59	60	60					5																	176893991		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893991G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.628C>T	5.37:g.176893991G>A	ENSP00000308532:p.Arg210Trp		Somatic				DBN1_uc003mgy.2_Missense_Mutation_p.R210W|DBN1_uc010jkn.1_Missense_Mutation_p.R160W|DBN1_uc003mgz.1_Missense_Mutation_p.R147W	p.R212W	NM_080881	NP_543157	WXS	Illumina GAIIx	Phase_I	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	916	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	210					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.634C>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351460	0.95830	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.44083	0.93;0.93;1.54	4.99	4.99	0.66335	.	0.128515	0.52532	D	0.000062	T	0.67059	0.2853	M	0.78456	2.415	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;0.995;0.998;0.999	T	0.71477	-0.4581	10	0.87932	D	0	-23.6691	18.0729	0.89417	0.0:0.0:1.0:0.0	.	160;210;210;212	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	W	210;212;210;209	ENSP00000308532:R210W;ENSP00000292385:R212W;ENSP00000377195:R210W	ENSP00000292385:R212W	R	-	1	2	DBN1	176826597	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.416000	0.59815	2.586000	0.87340	0.655000	0.94253	CGG		0.667	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		3	70	0	0	0	1	0	3	70					A	176893991	G	A	176893991	3	1	385	1	0	0	0	0	1	0	0	0	4252	1086	38	1	1353	1	DBN1	5	176893991	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	37677533	176893991	4021269	16	6533											
DNAH8	1769	broad.mit.edu	37	6	38749066	38749066	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:38749066C>T	ENST00000359357.3	+	14	1779	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R726C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R509C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	509					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						CCCTCTTGCTCGCAACATGCC	0.383																																						uc021yzh.1																			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.(2176-2178)Cgc>Tgc		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							76	79	78					6																	38749066		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38749066C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1525C>T	6.37:g.38749066C>T	ENSP00000352312:p.Arg509Cys		Somatic				DNAH8_uc003ooe.2_Missense_Mutation_p.R509C	p.R726C	NM_001206927	NP_001193856	WXS	Illumina GAIIx	Phase_I					15	2285	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2176C>T		.	.	.	.	.	.	.	.	.	.	C	19.71	3.877486	0.72294	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60040	0.22;0.22;0.22	5.57	4.62	0.57501	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.86864	2.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.79502	-0.1777	10	0.87932	D	0	.	15.5155	0.75822	0.1471:0.8529:0.0:0.0	.	509	Q96JB1	DYH8_HUMAN	C	714;714;509;509	ENSP00000333363:R714C;ENSP00000352312:R509C;ENSP00000402294:R509C	ENSP00000333363:R714C	R	+	1	0	DNAH8	38857044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.010000	0.49559	2.627000	0.88993	0.543000	0.68304	CGC		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		50	108	0	0	0	1	0	50	108					T	38749066	C	T	38749066	3	4	385	1	0	0	0	0	1	0	0	0	4607	884	31	1	1571	1	DNAH8	6	38749066	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		38749066	132366001	17	6534											
ARID1B	57492	broad.mit.edu	37	6	157528133	157528133	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:157528133G>A	ENST00000350026.5	+	19	5820	c.5819G>A	c.(5818-5820)cGt>cAt	p.R1940H	ARID1B_ENST00000367148.1_Missense_Mutation_p.R1993H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1935H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1953H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1940					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)	p.R1935H(1)		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)		AATATTGTCCGTAGCTTGTCA	0.557																																						uc003qqn.3																			1	Substitution - Missense(1)	p.R1935H(1)	large_intestine(1)	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.(5977-5979)cGt>cAt		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							130	127	128					6																	157528133		2203	4296	6499	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.chr6:157528133G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5819G>A	6.37:g.157528133G>A	ENSP00000055163:p.Arg1940His		Somatic				ARID1B_uc003qqo.3_Missense_Mutation_p.R1953H|ARID1B_uc003qqp.3_Missense_Mutation_p.R1940H	p.R1993H	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5978	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1940					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5978G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550387	0.65311	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.74051	-0.3789	10	0.87932	D	0	.	18.182	0.89781	0.0:0.0:1.0:0.0	.	1940;1953;1935	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1953;1940;1993;1935;1462	ENSP00000344546:R1953H;ENSP00000055163:R1940H;ENSP00000356116:R1993H;ENSP00000275248:R1935H;ENSP00000412835:R1462H	ENSP00000275248:R1935H	R	+	2	0	ARID1B	157569825	1.000000	0.71417	0.920000	0.36463	0.849000	0.48306	9.813000	0.99286	2.347000	0.79759	0.563000	0.77884	CGT		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	263	0	0	0	1	0	5	263					A	157528133	G	A	157528133	3	1	385	1	0	0	0	0	1	0	0	0	914	1145	40	1	5936	1	ARID1B	6	157528133	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	118779067	157528133	13586934	18	6535											
SYTL3	94120	broad.mit.edu	37	6	159178397	159178397	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:159178397A>G	ENST00000297239.9	+	13	1486	c.1292A>G	c.(1291-1293)cAt>cGt	p.H431R	SYTL3_ENST00000360448.3_Missense_Mutation_p.H363R|SYTL3_ENST00000367081.3_Missense_Mutation_p.H157R			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	431					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)		TTCCGCTGGCATCCGCTCCGG	0.527																																						uc003qrp.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1291-1293)cAt>cGt		Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.							90	77	82					6																	159178397		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178397A>G	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1292A>G	6.37:g.159178397A>G	ENSP00000297239:p.His431Arg		Somatic				SYTL3_uc003qrr.3_Missense_Mutation_p.H431R|SYTL3_uc003qro.3_Missense_Mutation_p.H363R|SYTL3_uc003qrs.3_Missense_Mutation_p.H363R|SYTL3_uc011efq.2_Missense_Mutation_p.H157R	p.H431R	NM_001242384	NP_001229313	WXS	Illumina GAIIx	Phase_I	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1691	+		Breast(66;0.000776)|Ovarian(120;0.0303)	431					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1292A>G	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675109	0.29783	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.07567	3.18;3.18;3.18	5.07	5.07	0.68467	C2 calcium/lipid-binding domain, CaLB (1);	0.320887	0.29892	N	0.010939	T	0.03348	0.0097	N	0.22421	0.69	0.23795	N	0.996827	B;B;B	0.25667	0.12;0.023;0.131	B;B;B	0.33960	0.104;0.009;0.173	T	0.34925	-0.9809	10	0.48119	T	0.1	.	14.812	0.70003	1.0:0.0:0.0:0.0	.	157;431;363	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	R	363;431;431;157	ENSP00000353631:H363R;ENSP00000297239:H431R;ENSP00000356048:H157R	ENSP00000297239:H431R	H	+	2	0	SYTL3	159098385	1.000000	0.71417	0.023000	0.16930	0.141000	0.21300	8.231000	0.89794	1.909000	0.55274	0.402000	0.26972	CAT		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			18	83	0	0	0	1	0	18	83					G	159178397	A	G	159178397	3	3	385	1	0	0	0	0	1	0	0	0	15481	217	8	3	1122	3	SYTL3	6	159178397	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	1650264	159178397	11936670	19	6536											
SLC22A2	6582	broad.mit.edu	37	6	160679691	160679691	+	Silent	SNP	G	G	A	rs568261775		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:160679691G>A	ENST00000366953.3	-	1	357	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SLC22A2_ENST00000366952.1_Silent_p.F12F|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	33					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AGATGGGCGCGAAGGTAGCCG	0.612													G|||	1	0.000199681	0	0	5008	,	,		17835	0		0	False		,,,				2504	0.001					uc003qtf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(97-99)ttC>ttT		Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.							41	44	43					6																	160679691		2203	4298	6501	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679691G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.99C>T	6.37:g.160679691G>A			Somatic				SLC22A2_uc003qth.2_Silent_p.F33F	p.F33F	NM_003058	NP_003049	WXS	Illumina GAIIx	Phase_I	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	0	273	-		Breast(66;0.000776)|Ovarian(120;0.0303)	33					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.99C>T	CCDS5276.1																																																																																				0.612	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		33	71	0	0	0	1	0	33	71					A	160679691	G	A	160679691	2	1	385	1	0	0	0	0	0	0	0	1	14450	1049	37	1		1	SLC22A2	6	160679691	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	1501294	160679691	10435376	20	6537											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		52	83	0	0	0	1	0	52	83					T	140453136	A	T	140453136	3	4	385	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		140453136	18685527	21	6538											
FUT10	84750	broad.mit.edu	37	8	33247184	33247184	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:33247184G>A	ENST00000327671.5	-	4	1140	c.509C>T	c.(508-510)aCt>aTt	p.T170I	FUT10_ENST00000335589.3_Missense_Mutation_p.T108I|FUT10_ENST00000524021.1_Missense_Mutation_p.T142I|FUT10_ENST00000518672.1_Missense_Mutation_p.T142I|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	170					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GAACGTGGCAGTGTAGTTGAA	0.463																																						uc011lbi.2																			0		p.D220N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(658-660)aCt>aTt		Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.							148	124	132					8																	33247184		2203	4300	6503	SO:0001583	missense	84750				L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33247184G>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.509C>T	8.37:g.33247184G>A	ENSP00000332757:p.Thr170Ile		Somatic				FUT10_uc003xjc.3_Missense_Mutation_p.T177I|FUT10_uc003xjd.3_Missense_Mutation_p.T142I|FUT10_uc003xje.3_Missense_Mutation_p.T170I|FUT10_uc003xjf.3_Missense_Mutation_p.T108I|FUT10_uc003xjg.3_Missense_Mutation_p.T142I|FUT10_uc003xjh.3_Missense_Mutation_p.T170I	p.T220I			WXS	Illumina GAIIx	Phase_I	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	3	825	-			170					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.659C>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.422331	0.83559	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.17	5.17	0.71159	.	0.062472	0.64402	D	0.000006	T	0.76169	0.3950	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.983;1.0;0.996	D;D;D;P;D;D	0.87578	0.998;0.979;0.998;0.885;0.998;0.992	T	0.82499	-0.0427	10	0.87932	D	0	-16.3317	16.5555	0.84484	0.0:0.0:1.0:0.0	.	220;170;142;108;170;212	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	170;212;142;142;108	ENSP00000332757:T170I;ENSP00000430428:T142I;ENSP00000429870:T142I;ENSP00000334997:T108I	ENSP00000332757:T170I	T	-	2	0	FUT10	33366726	1.000000	0.71417	0.965000	0.40720	0.959000	0.62525	9.782000	0.99034	2.562000	0.86427	0.552000	0.68991	ACT		0.463	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		3	154	0	0	0	1	0	3	154					A	33247184	G	A	33247184	3	1	385	1	0	0	0	0	1	0	0	0	6102	1029	36	2	938	2	FUT10	8	33247184	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		33247184	113116838	22	6539											
ARMC1	55156	broad.mit.edu	37	8	66525624	66525624	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:66525624T>C	ENST00000276569.3	-	4	564	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	107					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGAATGTCATAGATTTCAGA	0.348																																						uc003xvl.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(319-321)tAt>tGt		Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.							132	127	129					8																	66525624		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66525624T>C	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.320A>G	8.37:g.66525624T>C	ENSP00000276569:p.Tyr107Cys		Somatic				ARMC1_uc011leo.2_Intron	p.Y107C	NM_018120	NP_060590	WXS	Illumina GAIIx	Phase_I	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		3	575	-			107					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.320A>G	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224115	0.79576	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.46451	0.87;0.87;0.87	6.02	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	P	0.55824	0.785	T	0.58934	-0.7548	10	0.56958	D	0.05	.	12.2416	0.54546	0.0:0.0663:0.0:0.9337	.	107	Q9NVT9	ARMC1_HUMAN	C	107	ENSP00000276569:Y107C;ENSP00000429191:Y107C;ENSP00000429715:Y107C	ENSP00000276569:Y107C	Y	-	2	0	ARMC1	66688178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.094000	0.41399	0.533000	0.62120	TAT		0.348	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		52	77	0	0	0	1	0	52	77					C	66525624	T	C	66525624	3	2	385	1	0	0	0	0	1	0	0	0	949	1406	49	3	544	3	ARMC1	8	66525624	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	33278440	66525624	79838398	23	6540											
BNC2	54796	broad.mit.edu	37	9	16436640	16436640	+	Missense_Mutation	SNP	C	C	T	rs377315626		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:16436640C>T	ENST00000380672.4	-	6	1609	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	BNC2_ENST00000380666.2_Missense_Mutation_p.A518T|BNC2_ENST00000545497.1_Missense_Mutation_p.A423T|BNC2_ENST00000380667.2_Missense_Mutation_p.A451T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGGGGTGGCAGCTCCTGAG	0.512																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1552-1554)Gcc>Acc		Homo sapiens basonuclin 2 (BNC2), mRNA.							71	77	75					9																	16436640		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436640C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1552G>A	9.37:g.16436640C>T	ENSP00000370047:p.Ala518Thr		Somatic				BNC2_uc011lmw.2_Missense_Mutation_p.A423T|BNC2_uc003zmm.3_Missense_Mutation_p.A476T|BNC2_uc003zmq.1_Missense_Mutation_p.A532T|BNC2_uc003zmr.1_Missense_Mutation_p.A555T|BNC2_uc003zmp.1_Missense_Mutation_p.A546T|BNC2_uc010mij.1_Missense_Mutation_p.A440T|BNC2_uc011lmv.2_Missense_Mutation_p.A344T|BNC2_uc003zmo.1_Missense_Mutation_p.A440T|BNC2_uc003zmj.3_Missense_Mutation_p.A283T|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.A283T|BNC2_uc003zmn.1_Missense_Mutation_p.A283T	p.A518T	NM_017637	NP_060107	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	1692	-			518						Missense_Mutation	SNP	ENST00000380672.4	37	c.1552G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228353	0.79576	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.33438	1.42;1.41;1.44;1.44;1.41	5.88	5.88	0.94601	.	0.048681	0.85682	D	0.000000	T	0.45175	0.1329	L	0.58101	1.795	0.80722	D	1	D;P;P;P;P;P;P;P;P	0.56035	0.974;0.849;0.906;0.734;0.906;0.849;0.849;0.941;0.849	P;B;P;P;P;B;B;P;B	0.51701	0.647;0.378;0.677;0.466;0.582;0.378;0.378;0.616;0.378	T	0.09443	-1.0674	10	0.33940	T	0.23	-18.0475	20.2422	0.98381	0.0:1.0:0.0:0.0	.	423;451;518;344;518;475;518;423;283	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	T	518;475;451;423;344;518;518	ENSP00000370047:A518T;ENSP00000408370:A475T;ENSP00000370042:A451T;ENSP00000444640:A423T;ENSP00000370041:A518T	ENSP00000370041:A518T	A	-	1	0	BNC2	16426640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.567000	0.82357	2.782000	0.95742	0.655000	0.94253	GCC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		49	102	0	0	0	1	0	49	102					T	16436640	C	T	16436640	3	4	385	1	0	0	0	0	1	0	0	0	1475	710	25	2	1755	2	BNC2	9	16436640	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		16436640	124776791	24	6541											
TSTD2	158427	broad.mit.edu	37	9	100364973	100364973	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:100364973G>A	ENST00000341170.4	-	10	1711	c.1329C>T	c.(1327-1329)acC>acT	p.T443T		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	443										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCAGGGCAGGTCAAAACGA	0.527																																						uc004axn.3																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1327-1329)acC>acT		Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.							150	132	138					9																	100364973		2203	4300	6503	SO:0001819	synonymous_variant	158427							g.chr9:100364973G>A	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1329C>T	9.37:g.100364973G>A			Somatic				TSTD2_uc004axo.3_Silent_p.T217T	p.T443T	NM_139246	NP_640339	WXS	Illumina GAIIx	Phase_I	Q5T7W7	TSTD2_HUMAN			9	1817	-			443					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	ENST00000341170.4	37	c.1329C>T	CCDS6727.2																																																																																				0.527	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		3	126	0	0	0	1	0	3	126					A	100364973	G	A	100364973	2	1	385	1	0	0	0	0	0	0	0	1	16672	987	35	2		2	TSTD2	9	100364973	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	83928333	100364973	40848458	25	6542											
KIAA1958	158405	broad.mit.edu	37	9	115337082	115337082	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:115337082A>G	ENST00000337530.6	+	2	1018	c.722A>G	c.(721-723)cAc>cGc	p.H241R	KIAA1958_ENST00000374244.3_Missense_Mutation_p.H241R|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H241R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	241										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCAGACTCACGCTGGTCCC	0.532																																						uc011lwx.1																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(721-723)cAc>cGc		Homo sapiens KIAA1958 (KIAA1958), mRNA.							141	120	127					9																	115337082		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115337082A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.722A>G	9.37:g.115337082A>G	ENSP00000336940:p.His241Arg		Somatic				KIAA1958_uc004bgf.1_Missense_Mutation_p.H241R	p.H241R	NM_133465	NP_597722	WXS	Illumina GAIIx	Phase_I	Q8N8K9	K1958_HUMAN			1	897	+			241					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.722A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.688461	0.29962	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.39056	1.1;1.1;1.1	6.07	6.07	0.98685	.	0.074603	0.56097	D	0.000029	T	0.24236	0.0587	N	0.14661	0.345	0.35834	D	0.825546	P;B	0.42827	0.791;0.396	B;B	0.37650	0.255;0.043	T	0.32241	-0.9914	10	0.44086	T	0.13	-7.9383	8.2071	0.31463	0.7311:0.1373:0.0:0.1316	.	241;241	B7ZKW6;Q8N8K9	.;K1958_HUMAN	R	241	ENSP00000336940:H241R;ENSP00000363362:H241R;ENSP00000440504:H241R	ENSP00000336940:H241R	H	+	2	0	KIAA1958	114376903	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.007000	0.57093	2.326000	0.78906	0.533000	0.62120	CAC		0.532	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		50	132	0	0	0	1	0	50	132					G	115337082	A	G	115337082	3	3	385	1	0	0	0	0	1	0	0	0	8264	159	6	3	724	3	KIAA1958	9	115337082	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	14972109	115337082	25876349	26	6543											
PDCD11	22984	broad.mit.edu	37	10	105165806	105165806	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:105165806G>A	ENST00000369797.3	+	6	723	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	210	S1 motif 2. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTGTTGATGGGACCAGAGCT	0.512																																						uc001kwy.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(628-630)gGg>gAg		Homo sapiens programmed cell death 11 (PDCD11), mRNA.							150	140	144					10																	105165806		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105165806G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.629G>A	10.37:g.105165806G>A	ENSP00000358812:p.Gly210Glu		Somatic					p.G210E	NM_014976	NP_055791	WXS	Illumina GAIIx	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	5	716	+		Colorectal(252;0.0747)|Breast(234;0.128)	210			S1 motif 2.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.629G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372943	0.82573	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.51574	0.7	5.4	4.49	0.54785	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.047340	0.85682	D	0.000000	T	0.55114	0.1900	L	0.58101	1.795	0.80722	D	1	P	0.49862	0.929	P	0.55087	0.768	T	0.55885	-0.8070	10	0.54805	T	0.06	-26.2267	9.756	0.40504	0.0778:0.1429:0.7793:0.0	.	210	Q14690	RRP5_HUMAN	E	210	ENSP00000358812:G210E	ENSP00000358812:G210E	G	+	2	0	PDCD11	105155796	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.772000	0.62324	2.537000	0.85549	0.555000	0.69702	GGG		0.512	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			3	176	0	0	0	1	0	3	176					A	105165806	G	A	105165806	3	1	385	1	0	0	0	0	1	0	0	0	11617	1232	43	2	647	2	PDCD11	10	105165806	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		105165806	30368941	27	6544											
NAV2	89797	broad.mit.edu	37	11	19955323	19955323	+	Silent	SNP	G	G	A	rs375524165		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:19955323G>A	ENST00000396087.3	+	8	1701	c.1602G>A	c.(1600-1602)acG>acA	p.T534T	NAV2_ENST00000540292.1_Silent_p.T465T|NAV2_ENST00000349880.4_Silent_p.T511T|NAV2_ENST00000527559.2_Silent_p.T463T|NAV2_ENST00000396085.1_Silent_p.T511T|NAV2_ENST00000360655.4_Silent_p.T447T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	534					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.T534T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCTGTGACGGAGAGGCTGG	0.517																																						uc010rdm.2																			1	Substitution - coding silent(1)	p.T534T(2)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1600-1602)acG>acA		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.		G	,,	1,4397	2.1+/-5.4	0,1,2198	95	110	105		1341,1533,1533	-10.3	0.0	11		105	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	,,	0,2,6490	AA,AG,GG		0.0116,0.0227,0.0154	,,	447/2366,511/2430,511/2433	19955323	2,12982	2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955323G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1602G>A	11.37:g.19955323G>A			Somatic				NAV2_uc001mpp.3_Silent_p.T447T|NAV2_uc001mpr.4_Silent_p.T511T|NAV2_uc021qew.1_Silent_p.T511T	p.T534T	NM_001244963	NP_001231892	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			7	1963	+			534					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.1602G>A	CCDS58126.1																																																																																				0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	102	0	0	0	1	0	3	102					A	19955323	G	A	19955323	2	1	385	1	0	0	0	0	0	0	0	1	10184	1103	39	1		1	NAV2	11	19955323	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		19955323	115051193	28	6545											
HNRNPUL2	221092	broad.mit.edu	37	11	62494174	62494174	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:62494174C>T	ENST00000301785.5	-	1	647	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TTC9C_ENST00000532583.1_5'Flank|TTC9C_ENST00000316461.4_5'Flank|TTC9C_ENST00000513247.2_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.R152K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	152	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCTTCCTCCCTCTTGCCGAG	0.706																																						uc001nuw.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(454-456)aGg>aAg		Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.							18	22	21					11																	62494174		1958	4147	6105	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62494174C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.455G>A	11.37:g.62494174C>T	ENSP00000301785:p.Arg152Lys		Somatic				HNRNPUL2_uc001nuu.2_Non-coding_Transcript|TTC9C_uc001nux.3_5'Flank|TTC9C_uc001nuy.3_5'Flank	p.R152K	NM_001079559	NP_001073027	WXS	Illumina GAIIx	Phase_I	Q1KMD3	HNRL2_HUMAN			0	684	-			152			Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.455G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237388	0.10023	.	.	ENSG00000214753	ENST00000301785	T	0.63096	-0.02	4.11	3.18	0.36537	.	0.310182	0.30446	N	0.009616	T	0.31513	0.0799	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26467	-1.0102	10	0.02654	T	1	-2.225	6.2835	0.21021	0.0:0.7029:0.192:0.1051	.	152	Q1KMD3	HNRL2_HUMAN	K	152	ENSP00000301785:R152K	ENSP00000301785:R152K	R	-	2	0	HNRNPUL2	62250750	0.004000	0.15560	0.939000	0.37840	0.457000	0.32468	0.695000	0.25527	1.019000	0.39547	0.462000	0.41574	AGG		0.706	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		17	34	0	0	0	1	0	17	34					T	62494174	C	T	62494174	3	4	385	1	0	0	0	0	1	0	0	0	7275	681	24	2	1844	2	HNRNPUL2	11	62494174	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	42538851	62494174	72512342	29	6546											
KDM2A	22992	broad.mit.edu	37	11	67012703	67012703	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67012703C>T	ENST00000529006.2	+	14	2053	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KDM2A_ENST00000308783.5_5'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.P536L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.P97L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	536					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCTACCATCCCCATTACGAAG	0.527																																						uc001ojw.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1606-1608)cCc>cTc		Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.							153	159	157					11																	67012703		1968	4122	6090	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012703C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1607C>T	11.37:g.67012703C>T	ENSP00000432786:p.Pro536Leu		Somatic				KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.P230L|KDM2A_uc010rpn.2_Missense_Mutation_p.P97L|KDM2A_uc001ojz.1_5'UTR	p.P536L	NM_012308	NP_036440	WXS	Illumina GAIIx	Phase_I	Q9Y2K7	KDM2A_HUMAN			13	2471	+			536					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1607C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413809	0.83449	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134	T;T;T	0.48522	0.81;2.12;1.74	5.36	5.36	0.76844	.	0.107024	0.64402	D	0.000003	T	0.30916	0.0780	N	0.14661	0.345	0.80722	D	1	P	0.35383	0.498	B	0.26864	0.074	T	0.17228	-1.0376	10	0.46703	T	0.11	-16.3043	17.461	0.87620	0.0:1.0:0.0:0.0	.	536	Q9Y2K7	KDM2A_HUMAN	L	536;536;97;97	ENSP00000381640:P536L;ENSP00000432786:P536L;ENSP00000435776:P97L	ENSP00000381640:P536L	P	+	2	0	KDM2A	66769279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.075000	0.50073	2.793000	0.96121	0.650000	0.86243	CCC		0.527	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		109	203	0	0	0	1	0	109	203					T	67012703	C	T	67012703	3	4	385	1	0	0	0	0	1	0	0	0	8124	623	22	2	1657	2	KDM2A	11	67012703	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	4518529	67012703	67993813	30	6547											
SUV420H1	51111	broad.mit.edu	37	11	67925361	67925361	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67925361A>G	ENST00000304363.4	-	11	2805	c.2452T>C	c.(2452-2454)Tat>Cat	p.Y818H		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	818					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACTGACTATAGTCATCCACC	0.448																																						uc001onm.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2452-2454)Tat>Cat		Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.							141	149	147					11																	67925361		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925361A>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2452T>C	11.37:g.67925361A>G	ENSP00000305899:p.Tyr818His		Somatic				SUV420H1_uc009yse.1_Missense_Mutation_p.Y404H|SUV420H1_uc001onn.1_Missense_Mutation_p.Y646H|SUV420H1_uc009ysf.2_Missense_Mutation_p.Y578H	p.Y818H	NM_017635	NP_060105	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			10	2708	-			818					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2452T>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387423	0.42308	.	.	ENSG00000110066	ENST00000304363	T	0.46819	0.86	5.71	5.71	0.89125	.	0.381500	0.28989	N	0.013489	T	0.50051	0.1593	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.43956	-0.9359	10	0.31617	T	0.26	-20.6141	15.9773	0.80079	1.0:0.0:0.0:0.0	.	818	Q4FZB7	SV421_HUMAN	H	818	ENSP00000305899:Y818H	ENSP00000305899:Y818H	Y	-	1	0	SUV420H1	67681937	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	6.373000	0.73128	2.189000	0.69895	0.402000	0.26972	TAT		0.448	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		62	106	0	0	0	1	0	62	106					G	67925361	A	G	67925361	3	3	385	1	0	0	0	0	1	0	0	0	15411	420	15	3	209	3	SUV420H1	11	67925361	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	912658	67925361	67081155	31	6548											
POU2AF1	5450	broad.mit.edu	37	11	111228348	111228348	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:111228348G>A	ENST00000393067.3	-	4	792	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	93					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)		CAGGGTGGCCGGGGTGGGCTG	0.627			T	BCL6	NHL																																	uc001plg.4				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(277-279)cCg>cTg		Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.							25	26	26					11																	111228348		2201	4296	6497	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228348G>A		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.278C>T	11.37:g.111228348G>A	ENSP00000376786:p.Pro93Leu		Somatic					p.P93L	NM_006235	NP_006226	WXS	Illumina GAIIx	Phase_I	Q16633	OBF1_HUMAN		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)	3	533	-		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)	93					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.278C>T	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256272	0.59321	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.32753	1.44;1.44	5.16	4.24	0.50183	.	0.347372	0.30547	N	0.009398	T	0.25680	0.0625	L	0.43152	1.355	0.47214	D	0.999352	P	0.44090	0.826	B	0.35859	0.212	T	0.05162	-1.0902	10	0.52906	T	0.07	-25.191	14.7413	0.69458	0.0:0.0:0.854:0.146	.	93	Q16633	OBF1_HUMAN	L	93;95	ENSP00000376786:P93L;ENSP00000433527:P95L	ENSP00000376786:P93L	P	-	2	0	POU2AF1	110733558	1.000000	0.71417	0.991000	0.47740	0.493000	0.33554	3.462000	0.53042	1.162000	0.42619	0.498000	0.49722	CCG		0.627	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		3	68	0	0	0	1	0	3	68					A	111228348	G	A	111228348	3	1	385	1	0	0	0	0	1	0	0	0	12270	1116	39	1	500	1	POU2AF1	11	111228348	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	43302987	111228348	23778168	32	6549											
LGR5	8549	broad.mit.edu	37	12	71978313	71978313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr12:71978313G>A	ENST00000266674.5	+	18	2834	c.2523G>A	c.(2521-2523)tgG>tgA	p.W841*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.W817*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.W769*|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	841					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTACGTCTGGACAAGATCAA	0.448																																						uc001swl.3																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2521-2523)tgG>tgA		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.							132	126	128					12																	71978313		2203	4300	6503	SO:0001587	stop_gained	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978313G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2523G>A	12.37:g.71978313G>A	ENSP00000266674:p.Trp841*		Somatic				LGR5_uc001swm.3_Nonsense_Mutation_p.W817*|LGR5_uc021rar.1_Nonsense_Mutation_p.W769*|LGR5_uc001swn.1_Non-coding_Transcript	p.W841*	NM_003667	NP_003658	WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			17	2571	+			841					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Nonsense_Mutation	SNP	ENST00000266674.5	37	c.2523G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	36	5.783628	0.96937	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	.	.	.	X	841;769;817	.	ENSP00000266674:W841X	W	+	3	0	LGR5	70264580	1.000000	0.71417	0.931000	0.37212	0.554000	0.35429	5.417000	0.66423	2.812000	0.96745	0.557000	0.71058	TGG		0.448	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		25	51	0	0	0	1	0	25	51					A	71978313	G	A	71978313	4	1	385	1	0	0	0	0	0	1	0	0	8757	1183	41	2	2593	2	LGR5	12	71978313	Nonsense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		71978313	61873582	33	6550											
ARHGDIG	398	broad.mit.edu	37	16	332688	332688	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:332688G>A	ENST00000219409.3	+	6	627	c.552G>A	c.(550-552)gaG>gaA	p.E184E	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	184					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		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)				CTCCGGTGGAGGAAGCGCCGA	0.642																																						uc002cgm.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)	3						c.(550-552)gaG>gaA		Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.							34	32	33					16																	332688		2200	4298	6498	SO:0001819	synonymous_variant	398				Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr16:332688G>A	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.552G>A	16.37:g.332688G>A			Somatic				LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'UTR|PDIA2_uc010bqt.1_5'UTR	p.E184E	NM_001176	NP_001167	WXS	Illumina GAIIx	Phase_I	Q99819	GDIR3_HUMAN			5	627	+		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)	184					Q4TT69|Q96S29	Silent	SNP	ENST00000219409.3	37	c.552G>A	CCDS10404.1																																																																																				0.642	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			3	36	0	0	0	1	0	3	36					A	332688	G	A	332688	2	1	385	1	0	0	0	0	0	0	0	1	892	991	35	2		2	ARHGDIG	16	332688	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		332688	90022065	34	6551											
C16orf11	146325	broad.mit.edu	37	16	613508	613508	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:613508C>G	ENST00000409413.3	+	2	493	c.214C>G	c.(214-216)Cca>Gca	p.P72A		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		72										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GCTAGACTCCCCAGACTGGGC	0.662																																						uc002chk.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(214-216)Cca>Gca		Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.							78	83	81					16																	613508		2067	4183	6250	SO:0001583	missense	146325							g.chr16:613508C>G																												ENST00000409413.3:c.214C>G	16.37:g.613508C>G	ENSP00000386499:p.Pro72Ala		Somatic					p.P72A	NM_145270	NP_660313	WXS	Illumina GAIIx	Phase_I	P0CG20	CP011_HUMAN			1	493	+			72					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.214C>G	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238020	0.39598	.	.	ENSG00000161992	ENST00000409413	.	.	.	5.19	4.02	0.46733	.	0.164918	0.29165	N	0.012955	T	0.50292	0.1607	M	0.62723	1.935	0.27116	N	0.962257	D	0.56035	0.974	P	0.54270	0.747	T	0.46105	-0.9215	9	0.62326	D	0.03	.	9.5396	0.39244	0.0:0.8866:0.0:0.1134	.	72	P0CG20	CP011_HUMAN	A	72	.	ENSP00000386499:P72A	P	+	1	0	C16orf11	553509	0.831000	0.29352	0.957000	0.39632	0.147000	0.21601	0.535000	0.23114	2.422000	0.82143	0.557000	0.71058	CCA		0.662	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			15	35	0	0	0	1	0	15	35					G	613508	C	G	613508	3	3	385	1	0	0	0	0	1	0	0	0	1810	623	22	4	216	4	C16orf11	16	613508	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	280820	613508	89741245	35	6552											
LCMT1	51451	broad.mit.edu	37	16	25175977	25175977	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:25175977G>A	ENST00000399069.3	+	7	783	c.628G>A	c.(628-630)Gca>Aca	p.A210T	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.A155T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	210					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGAGCAGTCCGCAAACCTCCT	0.428																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			0											c.(628-630)Gca>Aca		Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	L-Leucine(DB00149)						106	100	102					16																	25175977		1921	4151	6072	SO:0001583	missense	51451						S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding	g.chr16:25175977G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.628G>A	16.37:g.25175977G>A	ENSP00000382021:p.Ala210Thr		Somatic				LCMT1_uc002dny.1_Missense_Mutation_p.A155T	p.A210T	NM_016309	NP_057393	WXS	Illumina GAIIx	Phase_I	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	6	786	+			210					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.628G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008454	0.35415	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.23754	1.93;1.89	5.83	4.87	0.63330	.	0.054809	0.85682	D	0.000000	T	0.21590	0.0520	L	0.56769	1.78	0.49051	D	0.999742	B;P	0.36683	0.31;0.565	B;B	0.27715	0.041;0.082	T	0.04103	-1.0977	10	0.16420	T	0.52	-14.865	13.0896	0.59160	0.0783:0.0:0.9217:0.0	.	155;210	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	210;155;227	ENSP00000382021:A210T;ENSP00000370353:A155T	ENSP00000370349:A227T	A	+	1	0	LCMT1	25083478	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.359000	0.66074	1.449000	0.47699	0.563000	0.77884	GCA		0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		3	131	0	0	0	1	0	3	131					A	25175977	G	A	25175977	3	1	385	1	0	0	0	0	1	0	0	0	8678	1087	38	1	654	1	LCMT1	16	25175977	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	24562469	25175977	65178776	36	6553											
NFAT5	10725	broad.mit.edu	37	16	69726422	69726422	+	Silent	SNP	G	G	A	rs369235958		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:69726422G>A	ENST00000354436.2	+	12	2958	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	NFAT5_ENST00000349945.1_Silent_p.Q804Q|NFAT5_ENST00000566899.1_Silent_p.Q804Q|NFAT5_ENST00000393742.2_Silent_p.Q804Q|NFAT5_ENST00000432919.1_Silent_p.Q898Q|NFAT5_ENST00000567239.1_Silent_p.Q897Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	880	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATcaacagcagcagcagc	0.478																																						uc002exl.2																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2692-2694)caG>caA		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							44	43	43					16																	69726422		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726422G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2640G>A	16.37:g.69726422G>A			Somatic				NFAT5_uc002exj.2_Silent_p.Q804Q|NFAT5_uc002exk.2_Silent_p.Q804Q|NFAT5_uc002exn.2_Silent_p.Q897Q|NFAT5_uc002exm.2_Silent_p.Q880Q|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Silent_p.Q804Q	p.Q898Q	NM_138713	NP_775322	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			12	3030	+			880					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.2694G>A	CCDS10881.1																																																																																				0.478	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		3	63	0	0	0	1	0	3	63					A	69726422	G	A	69726422	2	1	385	1	0	0	0	0	0	0	0	1	10360	962	34	2		2	NFAT5	16	69726422	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	44550445	69726422	20628331	37	6554											
ZNHIT3	9326	broad.mit.edu	37	17	34842567	34842567	+	Silent	SNP	C	C	T	rs139241535	byFrequency	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34842567C>T	ENST00000225410.4	+	1	89	c.24C>T	c.(22-24)acC>acT	p.T8T	ZNHIT3_ENST00000592616.1_Silent_p.T8T|ZNHIT3_ENST00000590858.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000588253.1_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	8					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		AATGTAGCACCGTCGTCTGCG	0.657													C|||	5	0.000998403	0.0038	0	5008	,	,		14163	0		0	False		,,,				2504	0				Pancreas(89;112 2361 26810)	uc002hms.1																			0		p.S7I(1)		lung(1)|pancreas(1)|prostate(1)	3						c.(22-24)acC>acT		Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.		C		19,4387		0,19,2184	124	117	119		24	-8.6	0.0	17	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	ZNHIT3	NM_004773.2		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		8/156	34842567	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34842567C>T	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"Zinc fingers, HIT-type"	12309	protein-coding gene	gene with protein product		604500	"thyroid hormone receptor interactor 3", "zinc finger, HIT type 3"	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.24C>T	17.37:g.34842567C>T			Somatic				ZNHIT3_uc010cus.1_Silent_p.T8T|ZNHIT3_uc002hmt.1_Non-coding_Transcript|ZNHIT3_uc010cut.1_Non-coding_Transcript	p.T8T	NM_004773	NP_004764	WXS	Illumina GAIIx	Phase_I	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	0	95	+		Breast(25;0.00957)|Ovarian(249;0.17)	8					A8K493|K7EQP1|Q8WVJ3	Silent	SNP	ENST00000225410.4	37	c.24C>T	CCDS11312.1																																																																																				0.657	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773		11	401	0	0	0	1	0	11	401					T	34842567	C	T	34842567	2	4	385	1	0	0	0	0	0	0	0	1	18205	639	23	1		1	ZNHIT3	17	34842567	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08		34842567	46352643	38	6555											
MYO19	80179	broad.mit.edu	37	17	34870998	34870998	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34870998T>A	ENST00000431794.3	-	8	1097	c.575A>T	c.(574-576)aAc>aTc	p.N192I	MYO19_ENST00000544606.1_Missense_Mutation_p.N58I|MYO19_ENST00000586007.1_Missense_Mutation_p.N192I|MYO19_ENST00000268852.9_Missense_Mutation_p.N192I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	192	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGACTGCTGTTGTTATTCCT	0.517																																						uc010wcy.2																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(574-576)aAc>aTc		Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.							127	118	121					17																	34870998		1976	4146	6122	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity	g.chr17:34870998T>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.575A>T	17.37:g.34870998T>A	ENSP00000409936:p.Asn192Ile		Somatic				MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.N192I|MYO19_uc010wcz.1_Intron|MYO19_uc010wda.1_Missense_Mutation_p.N58I|MYO19_uc002hmx.2_Missense_Mutation_p.N192I	p.N192I	NM_001163735	NP_001157207	WXS	Illumina GAIIx	Phase_I	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	8	1567	-		Breast(25;0.00957)|Ovarian(249;0.17)	192			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.575A>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.034666	0.93575	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.97041	-4.22;-4.22;-4.22	5.92	5.92	0.95590	Myosin head, motor domain (3);	0.000000	0.46442	D	0.000283	D	0.99133	0.9701	H	0.98487	4.245	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	D	0.99010	1.0814	10	0.87932	D	0	.	15.1902	0.73038	0.0:0.0:0.0:1.0	.	58;192;192;192	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	I	192;192;58	ENSP00000409936:N192I;ENSP00000268852:N192I;ENSP00000438365:N58I	ENSP00000268852:N192I	N	-	2	0	MYO19	31945111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.274000	0.75844	0.533000	0.62120	AAC		0.517	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		10	34	0	0	0	1	0	10	34					A	34870998	T	A	34870998	3	1	385	1	0	0	0	0	1	0	0	0	10067	1725	60	5	2473	5	MYO19	17	34870998	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	28431	34870998	46324212	39	6556											
GRB7	2886	broad.mit.edu	37	17	37901566	37901566	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:37901566C>T	ENST00000309156.4	+	10	1339	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	GRB7_ENST00000309185.3_Missense_Mutation_p.S361F|GRB7_ENST00000394209.2_Missense_Mutation_p.S361F|GRB7_ENST00000445327.2_Missense_Mutation_p.S384F|GRB7_ENST00000394204.1_Missense_Mutation_p.S361F|GRB7_ENST00000394211.3_Missense_Mutation_p.S361F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	361					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTTGGGCTCCCCACCCTTG	0.592																																						uc021twu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1150-1152)tCc>tTc		Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 4, mRNA.							65	58	60					17																	37901566		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding	g.chr17:37901566C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1082C>T	17.37:g.37901566C>T	ENSP00000310771:p.Ser361Phe		Somatic				GRB7_uc002hsr.3_Missense_Mutation_p.S361F|GRB7_uc002hss.3_Missense_Mutation_p.S361F|GRB7_uc010cwc.3_Missense_Mutation_p.S361F|GRB7_uc002hst.3_Missense_Mutation_p.S361F	p.S384F	NM_001242442	NP_001229371	WXS	Illumina GAIIx	Phase_I	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		9	1286	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		361					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1151C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167274	0.21621	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.58210	0.35;1.5;1.5;1.5;1.48;0.35	5.84	5.84	0.93424	.	0.401285	0.30109	N	0.010391	T	0.53981	0.1830	L	0.39147	1.195	0.20703	N	0.999866	D;B	0.54964	0.969;0.002	P;B	0.47827	0.558;0.01	T	0.54330	-0.8310	10	0.66056	D	0.02	-37.4214	17.916	0.88950	0.0:1.0:0.0:0.0	.	361;361	Q14451-2;Q14451	.;GRB7_HUMAN	F	361;361;361;361;384;361	ENSP00000311752:S361F;ENSP00000310771:S361F;ENSP00000377761:S361F;ENSP00000377759:S361F;ENSP00000403459:S384F;ENSP00000377754:S361F	ENSP00000310771:S361F	S	+	2	0	GRB7	35155092	0.316000	0.24580	0.887000	0.34795	0.103000	0.19146	2.583000	0.46094	2.768000	0.95171	0.561000	0.74099	TCC		0.592	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		21	90	0	0	0	1	0	21	90					T	37901566	C	T	37901566	3	4	385	1	0	0	0	0	1	0	0	0	6759	855	30	2	1116	2	GRB7	17	37901566	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	3030568	37901566	43293644	40	6557											
AP3D1	8943	broad.mit.edu	37	19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:2129435T>C	ENST00000345016.5	-	7	845	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.N205S|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					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)		GCAGATGACATTGACGGCAGC	0.577																																						uc002lva.3																			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.(613-615)aAt>aGt		Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.							99	105	103					19																	2129435		1983	4162	6145	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity	g.chr19:2129435T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.614A>G	19.37:g.2129435T>C	ENSP00000344055:p.Asn205Ser		Somatic				AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Missense_Mutation_p.N205S	p.N205S	NM_003938	NP_003929	WXS	Illumina GAIIx	Phase_I	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)	6	837	-		Hepatocellular(1079;0.137)	205					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.614A>G	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586684	0.66105	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.12039	2.72;2.72	4.58	4.58	0.56647	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	M	0.62154	1.92	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.80764	0.994;0.896	T	0.03121	-1.1070	10	0.48119	T	0.1	-50.3823	13.4298	0.61049	0.0:0.0:0.0:1.0	.	205;205	O14617-5;O14617	.;AP3D1_HUMAN	S	205	ENSP00000344055:N205S;ENSP00000347416:N205S	ENSP00000341579:N205S	N	-	2	0	AP3D1	2080435	1.000000	0.71417	0.975000	0.42487	0.298000	0.27526	7.775000	0.85489	1.828000	0.53243	0.533000	0.62120	AAT		0.577	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			11	82	0	0	0	1	0	11	82					C	2129435	T	C	2129435	3	2	385	1	0	0	0	0	1	0	0	0	746	1493	52	3	3101	3	AP3D1	19	2129435	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08		2129435	56999548	41	6558											
FBN3	84467	broad.mit.edu	37	19	8146248	8146248	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8146248A>G	ENST00000600128.1	-	58	7744	c.7330T>C	c.(7330-7332)Tgc>Cgc	p.C2444R	FBN3_ENST00000601739.1_Missense_Mutation_p.C2444R|FBN3_ENST00000270509.2_Missense_Mutation_p.C2444R			Q75N90	FBN3_HUMAN	fibrillin 3	2444	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACCTTTGCAGGTCCTGCCA	0.587																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7330-7332)Tgc>Cgc		Homo sapiens fibrillin 3 (FBN3), mRNA.							78	71	73					19																	8146248		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8146248A>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7330T>C	19.37:g.8146248A>G	ENSP00000470498:p.Cys2444Arg		Somatic				FBN3_uc002mje.3_Missense_Mutation_p.C283R	p.C2444R	NM_032447	NP_115823	WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			56	7347	-			2444			EGF-like 39; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7330T>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126670	0.56721	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.99914	-7.98	4.82	4.82	0.62117	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.114302	0.64402	U	0.000009	D	0.99953	0.9980	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.96008	0.8999	10	0.87932	D	0	.	14.3687	0.66823	1.0:0.0:0.0:0.0	.	2444;550	Q75N90;Q6ZNB8	FBN3_HUMAN;.	R	2444;550	ENSP00000270509:C2444R	ENSP00000270509:C2444R	C	-	1	0	FBN3	8052248	1.000000	0.71417	0.952000	0.39060	0.338000	0.28826	8.872000	0.92352	1.810000	0.52873	0.391000	0.25812	TGC		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	54	0	0	0	1	0	3	54					G	8146248	A	G	8146248	3	3	385	1	0	0	0	0	1	0	0	0	5704	188	7	3	1127	3	FBN3	19	8146248	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	6016813	8146248	50982735	42	6559											
OR2Z1	284383	broad.mit.edu	37	19	8842269	8842269	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8842269G>A	ENST00000324060.2	+	1	954	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGTCTGAGGAATCCGGAGG	0.522																																						uc010xkg.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(877-879)agG>agA		Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.							123	108	113					19																	8842269		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842269G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.879G>A	19.37:g.8842269G>A			Somatic					p.R293R	NM_001004699	NP_001004699	WXS	Illumina GAIIx	Phase_I	Q8NG97	OR2Z1_HUMAN			0	879	+			293					B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.879G>A	CCDS32895.1																																																																																				0.522	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			5	119	0	0	0	1	0	5	119					A	8842269	G	A	8842269	2	1	385	1	0	0	0	0	0	0	0	1	11036	1165	41	2		2	OR2Z1	19	8842269	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	696021	8842269	50286714	43	6560											
MUC16	94025	broad.mit.edu	37	19	9065420	9065420	+	Silent	SNP	T	T	G	rs537879149		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:9065420T>G	ENST00000397910.4	-	3	22229	c.22026A>C	c.(22024-22026)acA>acC	p.T7342T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7344	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						ATGTGTCTAATGTAAAGGTAC	0.458																																						uc002mkp.3																			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.(22024-22026)acA>acC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							129	129	129					19																	9065420		1972	4156	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065420T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22026A>C	19.37:g.9065420T>G			Somatic					p.T7342T	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	22230	-			7344			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22026A>C	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	57	0	0	0	1	0	33	57					G	9065420	T	G	9065420	2	3	385	1	0	0	0	0	0	0	0	1	9973	1451	51	5		5	MUC16	19	9065420	Silent	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	223151	9065420	50063563	44	6561											
MRPL4	51073	broad.mit.edu	37	19	10369175	10369175	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10369175G>A	ENST00000253099.6	+	7	926	c.639G>A	c.(637-639)ggG>ggA	p.G213G	MRPL4_ENST00000590669.1_Silent_p.G213G|MRPL4_ENST00000588502.1_Silent_p.G212G|MRPL4_ENST00000307422.5_Silent_p.G213G|MRPL4_ENST00000393733.2_Silent_p.G213G|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.4_ENST00000587088.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	213					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G213G(1)		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)		GCCGCTGGGGGGACTCCGTAC	0.647																																						uc002mnm.3																			1	Substitution - coding silent(1)	p.G213G(2)	large_intestine(1)	breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(637-639)ggG>ggA		Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							64	70	68					19																	10369175		2203	4300	6503	SO:0001819	synonymous_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10369175G>A	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.639G>A	19.37:g.10369175G>A			Somatic				MRPL4_uc002mnn.3_Silent_p.G213G|MRPL4_uc002mno.3_Silent_p.G213G	p.G213G	NM_146387	NP_666499	WXS	Illumina GAIIx	Phase_I	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)	7	793	+		Renal(1328;0.0112)	213					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	ENST00000253099.6	37	c.639G>A	CCDS12230.1																																																																																				0.647	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			3	124	0	0	0	1	0	3	124					A	10369175	G	A	10369175	2	1	385	1	0	0	0	0	0	0	0	1	9803	1219	43	2		2	MRPL4	19	10369175	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	1303755	10369175	48759808	45	6562											
ATP4A	495	broad.mit.edu	37	19	36045884	36045884	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:36045884G>A	ENST00000262623.3	-	16	2449	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	807					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGGGCACGCTGACGGTGATGT	0.547																																						uc002oal.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2419-2421)gtC>gtT		Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						259	194	216					19																	36045884		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36045884G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2421C>T	19.37:g.36045884G>A			Somatic				ATP4A_uc010eee.1_5'UTR	p.V807V	NM_000704	NP_000695	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		15	2450	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		807					O00738	Silent	SNP	ENST00000262623.3	37	c.2421C>T	CCDS12467.1																																																																																				0.547	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		47	59	0	0	0	1	0	47	59					A	36045884	G	A	36045884	2	1	385	1	0	0	0	0	0	0	0	1	1145	1277	45	2		2	ATP4A	19	36045884	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	25676709	36045884	23083099	46	6563											
SLC1A5	6510	broad.mit.edu	37	19	47281988	47281988	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:47281988G>A	ENST00000542575.2	-	5	1630	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC1A5_ENST00000434726.2_Silent_p.Y132Y|SLC1A5_ENST00000594991.1_Silent_p.Y158Y|SLC1A5_ENST00000412532.2_Silent_p.Y106Y	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	334					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGAAGCGGTAGGGGTTTT	0.597																																						uc002pfs.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1000-1002)taC>taT		Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	L-Asparagine(DB00174)|L-Glutamine(DB00130)						95	88	90					19																	47281988		2203	4300	6503	SO:0001819	synonymous_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47281988G>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1002C>T	19.37:g.47281988G>A			Somatic				SLC1A5_uc010xyh.2_Silent_p.Y132Y|SLC1A5_uc002pfq.3_Silent_p.Y158Y|SLC1A5_uc002pfr.3_Silent_p.Y106Y	p.Y334Y	NM_005628	NP_001138616	WXS	Illumina GAIIx	Phase_I	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	4	1622	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	334					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	c.1002C>T	CCDS12692.1																																																																																				0.597	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			3	63	0	0	0	1	0	3	63					A	47281988	G	A	47281988	2	1	385	1	0	0	0	0	0	0	0	1	14435	1256	44	2		2	SLC1A5	19	47281988	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	11236104	47281988	11846995	47	6564											
CPT1C	126129	broad.mit.edu	37	19	50215184	50215184	+	Missense_Mutation	SNP	G	G	A	rs548745420		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:50215184G>A	ENST00000392518.4	+	17	2357	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	CPT1C_ENST00000323446.5_Missense_Mutation_p.R662Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R662Q|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000405931.2_Missense_Mutation_p.R651Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	662					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCGTGTCCCGATTCCTCCAC	0.607													g|||	1	0.000199681	8e-04	0	5008	,	,		19746	0		0	False		,,,				2504	0					uc010eng.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1984-1986)cGa>cAa		Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.							108	85	93					19																	50215184		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50215184G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1985G>A	19.37:g.50215184G>A	ENSP00000376303:p.Arg662Gln		Somatic				CPT1C_uc002ppl.4_3'UTR|CPT1C_uc002ppi.3_Missense_Mutation_p.R579Q|CPT1C_uc002ppk.3_Missense_Mutation_p.R651Q|CPT1C_uc010enh.3_Missense_Mutation_p.R662Q|CPT1C_uc002ppj.3_Missense_Mutation_p.R662Q|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Intron	p.R662Q	NM_001199753	NP_001186682	WXS	Illumina GAIIx	Phase_I	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	16	2301	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	662					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1985G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366734	0.41902	.	.	ENSG00000169169	ENST00000392518;ENST00000405931;ENST00000323446	D;D;D	0.88818	-2.43;-2.43;-2.43	4.46	-0.156	0.13391	.	0.184288	0.26207	N	0.025720	T	0.77039	0.4072	N	0.24115	0.695	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.61598	-0.7030	10	0.23891	T	0.37	-8.7398	8.1707	0.31254	0.7473:0.0:0.2527:0.0	.	651;662	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	Q	662;651;662	ENSP00000376303:R662Q;ENSP00000384465:R651Q;ENSP00000319343:R662Q	ENSP00000319343:R662Q	R	+	2	0	CPT1C	54906996	0.796000	0.28864	0.135000	0.22099	0.798000	0.45092	1.626000	0.37039	0.157000	0.19338	-0.125000	0.14975	CGA		0.607	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		24	104	0	0	0	1	0	24	104					A	50215184	G	A	50215184	3	1	385	1	0	0	0	0	1	0	0	0	3833	1058	37	1	2043	1	CPT1C	19	50215184	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	2933196	50215184	8913799	48	6565											
ZNF160	90338	broad.mit.edu	37	19	53572532	53572532	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:53572532G>A	ENST00000429604.1	-	7	1670	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF160_ENST00000599056.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000601421.1_Missense_Mutation_p.H383Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.H419Y	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	419					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTGTGGATTGTCTGA	0.428																																						uc010eqk.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1255-1257)Cac>Tac		Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.							134	135	135					19																	53572532		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572532G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1255C>T	19.37:g.53572532G>A	ENSP00000406201:p.His419Tyr		Somatic				ZNF160_uc002qaq.4_Missense_Mutation_p.H419Y|ZNF160_uc002qar.4_Missense_Mutation_p.H419Y	p.H419Y	NM_001102603	NP_942596	WXS	Illumina GAIIx	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	6	1671	-			419					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1255C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623158	0.46840	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.67523	-0.27;-0.27	2.47	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83496	0.5267	M	0.91920	3.255	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.86693	0.1924	9	0.87932	D	0	.	12.0276	0.53380	0.0:0.0:1.0:0.0	.	419	Q9HCG1	ZN160_HUMAN	Y	419	ENSP00000406201:H419Y;ENSP00000409597:H419Y	ENSP00000409597:H419Y	H	-	1	0	ZNF160	58264344	0.795000	0.28851	0.300000	0.25030	0.596000	0.36781	3.801000	0.55545	1.361000	0.45981	0.561000	0.74099	CAC		0.428	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		5	196	0	0	0	1	0	5	196					A	53572532	G	A	53572532	3	1	385	1	0	0	0	0	1	0	0	0	17736	1348	47	2	1205	2	ZNF160	19	53572532	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	3357348	53572532	5556451	49	6566											
SIGLEC1	6614	broad.mit.edu	37	20	3675022	3675022	+	Silent	SNP	G	G	A	rs551720638		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:3675022G>A	ENST00000344754.4	-	12	3101	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	SIGLEC1_ENST00000202578.4_Silent_p.P1034P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1034	Ig-like C2-type 10.				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						AGCTGCCTTCGGGTCCCCCCA	0.652													G|||	1	0.000199681	0	0	5008	,	,		17030	0		0	False		,,,				2504	0.001					uc002wja.3																			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.(3100-3102)ccC>ccT		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							55	57	57					20																	3675022		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3675022G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	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"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3102C>T	20.37:g.3675022G>A			Somatic				SIGLEC1_uc002wiz.4_Silent_p.P1034P|SIGLEC1_uc002wjb.1_5'Flank	p.P1034P	NM_023068	NP_075556	WXS	Illumina GAIIx	Phase_I	Q9BZZ2	SN_HUMAN			11	3102	-			1034			Ig-like C2-type 10.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3102C>T	CCDS13060.1																																																																																				0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		39	92	0	0	0	1	0	39	92					A	3675022	G	A	3675022	2	1	385	1	0	0	0	0	0	0	0	1	14305	1103	39	1		1	SIGLEC1	20	3675022	Silent	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		3675022	59350498	50	6567											
MYH7B	57644	broad.mit.edu	37	20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T	rs369138767		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:33582119C>T	ENST00000262873.7	+	25	2833	c.2741C>T	c.(2740-2742)gCg>gTg	p.A914V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	872						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672																																						uc002xbi.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2740-2742)gCg>gTg		Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.		C	VAL/ALA	0,4014		0,0,2007	29	38	35		2741	3.3	0.0	20		35	2,8314		0,2,4156	no	missense	MYH7B	NM_020884.3	64	0,2,6163	TT,TC,CC		0.0241,0.0,0.0162	benign	914/1984	33582119	2,12328	2007	4158	6165	SO:0001583	missense	57644					membrane|myosin filament	ATP binding|actin binding|motor activity	g.chr20:33582119C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2741C>T	20.37:g.33582119C>T	ENSP00000262873:p.Ala914Val		Somatic					p.A914V	NM_020884	NP_065935	WXS	Illumina GAIIx	Phase_I	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		26	3058	+			872					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2741C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150006	0.57151	0.0	2.41E-4	ENSG00000078814	ENST00000262873	D	0.83163	-1.69	4.32	3.3	0.37823	.	0.425278	0.17358	N	0.177128	T	0.73521	0.3597	L	0.38175	1.15	0.22412	N	0.999123	B	0.23806	0.091	B	0.04013	0.001	T	0.67256	-0.5716	10	0.72032	D	0.01	.	10.038	0.42139	0.4003:0.5997:0.0:0.0	.	872	A7E2Y1	MYH7B_HUMAN	V	914	ENSP00000262873:A914V	ENSP00000262873:A914V	A	+	2	0	MYH7B	33045780	0.867000	0.29959	0.006000	0.13384	0.854000	0.48673	4.412000	0.59787	2.409000	0.81822	0.655000	0.94253	GCG		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		3	66	0	0	0	1	0	3	66					T	33582119	C	T	33582119	3	4	385	1	0	0	0	0	1	0	0	0	10040	768	27	1	2839	1	MYH7B	20	33582119	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	29907097	33582119	29443401	51	6568											
DNTTIP1	116092	broad.mit.edu	37	20	44432018	44432018	+	Splice_Site	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:44432018G>A	ENST00000372622.3	+	8	671		c.e8+1			NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1							nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCCCCAAGGTATGATTATG	0.507																																						uc002xpk.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.e8+1		Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.							77	65	69					20																	44432018		2203	4300	6503	SO:0001630	splice_region_variant	116092					nucleus		g.chr20:44432018G>A	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.603+1G>A	20.37:g.44432018G>A			Somatic					p.K201_splice	NM_052951	NP_443183	WXS	Illumina GAIIx	Phase_I	Q9H147	TDIF1_HUMAN			8	671	+		Myeloproliferative disorder(115;0.0122)	201					B2RA18|Q96DE3|Q9BQP2|Q9H148	Splice_Site	SNP	ENST00000372622.3	37	c.603_splice	CCDS13369.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085705	0.55861	.	.	ENSG00000101457	ENST00000372622;ENST00000456939;ENST00000435014	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.633	0.88114	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNTTIP1	43865425	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	6.376000	0.73141	2.750000	0.94351	0.467000	0.42956	.		0.507	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	Intron	15	47	0	0	0	1	0	15	47					A	44432018	G	A	44432018	5	1	385	1	0	0	0	0	0	0	1	0	4681	1275	44	2	634	2	DNTTIP1	20	44432018	Splice_Site	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	10849899	44432018	18593502	52	6569											
GNAS	2778	broad.mit.edu	37	20	57428474	57428474	+	Missense_Mutation	SNP	G	G	A	rs527488103		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:57428474G>A	ENST00000371100.4	+	1	706	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.E52K|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_5'Flank|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.E52K	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GATGGAGACCGAACCGCCTCA	0.652			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			G|||	1	0.000199681	8e-04	0	5008	,	,		12823	0		0	False		,,,				2504	0				Colon(117;935 1597 6045 8307 46442)	uc002xzw.3				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(154-156)Gaa>Aaa		Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.							17	20	19					20																	57428474		1878	4111	5989	SO:0001583	missense	2778				G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428474G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.154G>A	20.37:g.57428474G>A	ENSP00000360141:p.Glu52Lys	TSP Lung(22;0.16)	Somatic				GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	p.E52K	NM_080425	NP_001070958	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		0	439	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.154G>A	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573898	0.45902	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.90133	-2.62;-2.61	4.56	-9.12	0.00707	.	.	.	.	.	D	0.83225	0.5208	L	0.51422	1.61	0.45035	D	0.998054	P	0.34587	0.458	B	0.20184	0.028	T	0.63571	-0.6607	9	0.29301	T	0.29	.	17.8853	0.88852	0.0704:0.7712:0.1584:0.0	.	52	Q5JWF2	GNAS1_HUMAN	K	52	ENSP00000360141:E52K;ENSP00000360143:E52K	ENSP00000360140:E52K	E	+	1	0	GNAS	56861869	0.321000	0.24625	0.085000	0.20634	0.950000	0.60333	-0.906000	0.04071	-1.973000	0.00999	-0.300000	0.09419	GAA		0.652	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		2	6	0	0	0	1	0	2	6					A	57428474	G	A	57428474	3	1	385	1	0	0	0	0	1	0	0	0	6510	1059	37	1	898	1	GNAS	20	57428474	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	12996456	57428474	5597046	53	6570											
COL20A1	57642	broad.mit.edu	37	20	61947922	61947922	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:61947922G>A	ENST00000358894.6	+	21	2642	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	COL20A1_ENST00000326996.6_Missense_Mutation_p.A848T|COL20A1_ENST00000435874.1_Missense_Mutation_p.A855T|COL20A1_ENST00000422202.1_Missense_Mutation_p.A855T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	848	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGATGGTGGCCTTCAGCCT	0.652																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(2542-2544)Gcc>Acc		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							28	31	30					20																	61947922		2020	4163	6183	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61947922G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2542G>A	20.37:g.61947922G>A	ENSP00000351767:p.Ala848Thr		Somatic				COL20A1_uc011aav.2_Missense_Mutation_p.A669T	p.A848T	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			20	2642	+	all_cancers(38;1.39e-10)		848			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.2542G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099723	0.20552	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	4.04	2.07	0.26955	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.064438	0.64402	D	0.000008	T	0.03564	0.0102	M	0.77103	2.36	0.31770	N	0.632265	B;B	0.19073	0.033;0.021	B;B	0.21360	0.034;0.024	T	0.14615	-1.0466	10	0.19147	T	0.46	.	7.9111	0.29791	0.2022:0.0:0.7978:0.0	.	855;848	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	848;848;855;855	ENSP00000351767:A848T;ENSP00000323077:A848T;ENSP00000408690:A855T;ENSP00000414753:A855T	ENSP00000323077:A848T	A	+	1	0	COL20A1	61418367	0.863000	0.29885	0.504000	0.27639	0.197000	0.23852	2.947000	0.49058	0.318000	0.23185	-0.498000	0.04607	GCC		0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		7	10	0	0	0	1	0	7	10					A	61947922	G	A	61947922	3	1	385	1	0	0	0	0	1	0	0	0	3679	1203	42	2	2620	2	COL20A1	20	61947922	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	4519448	61947922	1077598	54	6571											
KRTAP20-2	337976	broad.mit.edu	37	21	32007755	32007755	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:32007755G>T	ENST00000330798.2	+	1	201	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	58						intermediate filament (GO:0005882)		p.R58T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGCTATGGAAGATACTGGTCC	0.507																																						uc011adg.2																			1	Substitution - Missense(1)	p.R58T(2)|p.G57G(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(172-174)aGa>aTa		Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.							162	140	148					21																	32007755		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007755G>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.173G>T	21.37:g.32007755G>T	ENSP00000330746:p.Arg58Ile		Somatic					p.R58I	NM_181616	NP_853647	WXS	Illumina GAIIx	Phase_I	Q3LI61	KR202_HUMAN			0	173	+			58						Missense_Mutation	SNP	ENST00000330798.2	37	c.173G>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034310	0.19590	.	.	ENSG00000184032	ENST00000330798	T	0.11169	2.8	4.62	3.73	0.42828	.	0.000000	0.43919	U	0.000520	T	0.23410	0.0566	.	.	.	0.09310	N	0.999999	D	0.53462	0.96	P	0.57776	0.827	T	0.02226	-1.1192	9	0.87932	D	0	.	10.908	0.47092	0.0:0.1897:0.8103:0.0	.	58	Q3LI61	KR202_HUMAN	I	58	ENSP00000330746:R58I	ENSP00000330746:R58I	R	+	2	0	KRTAP20-2	30929626	0.004000	0.15560	0.008000	0.14137	0.003000	0.03518	0.926000	0.28804	1.295000	0.44724	0.650000	0.86243	AGA		0.507	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			8	192	0	0	0	1	0	8	192					T	32007755	G	T	32007755	3	4	385	1	0	0	0	0	1	0	0	0	8537	942	33	4	175	4	KRTAP20-2	21	32007755	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08		32007755	16122140	55	6572											
DEPDC5	9681	broad.mit.edu	37	22	32215193	32215193	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:32215193A>G	ENST00000382112.3	+	21	1922	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	DEPDC5_ENST00000382105.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.M618V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.M618V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.M618V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.M590V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	618					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						AAGGCGCTGGATGCACACTTT	0.557																																						uc011alu.2																			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.(1852-1854)Atg>Gtg		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							105	103	104					22																	32215193		2003	4177	6180	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32215193A>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1852A>G	22.37:g.32215193A>G	ENSP00000371546:p.Met618Val		Somatic				DEPDC5_uc011als.2_Missense_Mutation_p.M618V|DEPDC5_uc003als.3_Missense_Mutation_p.M618V|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.M618V|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.M58V|DEPDC5_uc011alt.2_Missense_Mutation_p.M590V	p.M618V	NM_001242896	NP_001229825	WXS	Illumina GAIIx	Phase_I	O75140	DEPD5_HUMAN			21	2054	+			618					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1852A>G	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.949|7.949	0.744424|0.744424	0.15710|0.15710	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T;T	.|0.28895	.|1.61;1.61;2.0;2.07;1.99;1.59;2.07;1.99;2.07	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	.|B;P;P;B;B;B	.|0.48911	.|0.091;0.917;0.865;0.119;0.041;0.073	.|B;D;P;B;B;B	.|0.63488	.|0.011;0.915;0.824;0.019;0.011;0.008	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.16420	.|T	.|0.52	.|.	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|618;590;618;618;618;618	.|B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	G|V	15|618;590;618;618;618;618;618;618;618;618	.|ENSP00000440210:M618V;ENSP00000441358:M590V;ENSP00000266091:M618V;ENSP00000383108:M618V;ENSP00000383105:M618V;ENSP00000371539:M618V;ENSP00000371546:M618V;ENSP00000371545:M618V;ENSP00000383107:M618V	.|ENSP00000266091:M618V	D|M	+|+	2|1	0|0	DEPDC5|DEPDC5	30545193|30545193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.198000|6.198000	0.72106|0.72106	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		26	100	0	0	0	1	0	26	100					G	32215193	A	G	32215193	3	3	385	1	0	0	0	0	1	0	0	0	4442	333	12	3	1952	3	DEPDC5	22	32215193	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		32215193	19089373	56	6573											
CRELD2	79174	broad.mit.edu	37	22	50315381	50315381	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:50315381C>T	ENST00000328268.4	+	5	638	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CRELD2_ENST00000403427.3_Silent_p.L188L|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000404488.3_Silent_p.L188L|CRELD2_ENST00000407217.3_Silent_p.L188L	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	188						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCTCGCTCCGGAACGAGA	0.677																																						uc010hal.2																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(562-564)ctC>ctT		Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.							82	83	82					22																	50315381		2203	4300	6503	SO:0001819	synonymous_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315381C>T	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.564C>T	22.37:g.50315381C>T			Somatic				CRELD2_uc003biz.3_Silent_p.L188L|CRELD2_uc010haj.3_Silent_p.L188L|CRELD2_uc003bja.2_Silent_p.L188L|CRELD2_uc010hak.2_Silent_p.L188L|CRELD2_uc010ham.2_Silent_p.L188L	p.L188L	NM_001135101	NP_001128573	WXS	Illumina GAIIx	Phase_I	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	4	699	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	188					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	c.564C>T	CCDS14082.1																																																																																				0.677	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		6	177	0	0	0	1	0	6	177					T	50315381	C	T	50315381	2	4	385	1	0	0	0	0	0	0	0	1	3867	842	30	2		2	CRELD2	22	50315381	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	18100188	50315381	989185	57	6574											
MAGEB10	139422	broad.mit.edu	37	X	27839566	27839566	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:27839566A>G	ENST00000356790.2	+	3	388	c.143A>G	c.(142-144)gAt>gGt	p.D48G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	48										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGTTTGAAGGATGTTTTCCAG	0.522																																						uc004dbw.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(142-144)gAt>gGt		Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.							58	50	53					X																	27839566		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839566A>G		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.143A>G	X.37:g.27839566A>G	ENSP00000368304:p.Asp48Gly		Somatic				MAGEB10_uc022bud.1_Missense_Mutation_p.D48G	p.D48G	NM_182506	NP_872312	WXS	Illumina GAIIx	Phase_I	Q96LZ2	MAGBA_HUMAN			2	388	+			48					Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.143A>G	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	A	2.692	-0.272835	0.05716	.	.	ENSG00000177689	ENST00000356790	T	0.04083	3.71	2.37	-4.74	0.03249	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03053	0.0090	L	0.39898	1.24	0.09310	N	1	B	0.16802	0.019	B	0.22880	0.042	T	0.49194	-0.8965	9	0.11485	T	0.65	.	1.2836	0.02046	0.2117:0.1623:0.4629:0.1631	.	48	Q96LZ2	MAGBA_HUMAN	G	48	ENSP00000368304:D48G	ENSP00000368304:D48G	D	+	2	0	MAGEB10	27749487	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.238000	0.00545	-1.662000	0.01482	0.345000	0.21793	GAT		0.522	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		13	30	0	0	0	1	0	13	30					G	27839566	A	G	27839566	3	3	385	1	0	0	0	0	1	0	0	0	9173	333	12	3	145	3	MAGEB10	23	27839566	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08		27839566	127430994	58	6575											
FOXR2	139628	broad.mit.edu	37	X	55650393	55650393	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:55650393C>T	ENST00000339140.3	+	1	561	c.249C>T	c.(247-249)gaC>gaT	p.D83D		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	83					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTGGGTGGACCCCAATATCC	0.552																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(247-249)gaC>gaT		Homo sapiens forkhead box R2 (FOXR2), mRNA.							68	61	64					X																	55650393		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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.chrX:55650393C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.249C>T	X.37:g.55650393C>T			Somatic					p.D83D	NM_198451	NP_940853	WXS	Illumina GAIIx	Phase_I	Q6PJQ5	FOXR2_HUMAN			0	561	+			83						Silent	SNP	ENST00000339140.3	37	c.249C>T	CCDS35308.1																																																																																				0.552	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		32	50	0	0	0	1	0	32	50					T	55650393	C	T	55650393	2	4	385	1	0	0	0	0	0	0	0	1	6032	506	18	2		2	FOXR2	23	55650393	Silent	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	27810827	55650393	99620167	59	6576											
DGAT2L6	347516	broad.mit.edu	37	X	69424816	69424816	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:69424816C>A	ENST00000333026.3	+	7	974	c.874C>A	c.(874-876)Cca>Aca	p.P292T		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463																																						uc004dxx.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(874-876)Cca>Aca		Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.							72	62	65					X																	69424816		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424816C>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.874C>A	X.37:g.69424816C>A	ENSP00000328036:p.Pro292Thr		Somatic					p.P292T	NM_198512	NP_940914	WXS	Illumina GAIIx	Phase_I	Q6ZPD8	DG2L6_HUMAN			6	971	+			292					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.874C>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963458	0.34659	.	.	ENSG00000184210	ENST00000333026	D	0.93076	-3.16	4.74	4.74	0.60224	.	0.209758	0.33712	N	0.004629	D	0.93400	0.7895	L	0.45051	1.395	0.36801	D	0.885337	D	0.63880	0.993	D	0.66716	0.946	D	0.92002	0.5611	10	0.22109	T	0.4	-16.5379	9.3478	0.38120	0.2129:0.7871:0.0:0.0	.	292	Q6ZPD8	DG2L6_HUMAN	T	292	ENSP00000328036:P292T	ENSP00000328036:P292T	P	+	1	0	DGAT2L6	69341541	1.000000	0.71417	0.995000	0.50966	0.727000	0.41649	4.436000	0.59948	2.202000	0.70862	0.600000	0.82982	CCA		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		7	21	0	0	0	1	0	7	21					A	69424816	C	A	69424816	3	1	385	1	0	0	0	0	1	0	0	0	4459	855	30	4	900	4	DGAT2L6	23	69424816	Missense_Mutation	SNP	C	TCGA-IM-A3U2-01A-21D-A22D-08	13774423	69424816	85845744	60	6577											
ZCCHC16	340595	broad.mit.edu	37	X	111698774	111698774	+	Missense_Mutation	SNP	G	G	A	rs368859857		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:111698774G>A	ENST00000340433.2	+	1	1048	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	273							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAACGAGCCCGCCAGCAAGAA	0.552																																						uc004epo.1																			0		p.A272A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(817-819)cGc>cAc		Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.		G	HIS/ARG	0,3835		0,0,0,1632,571	66	68	67		818	-2.8	0.2	X		67	2,6726		0,1,1,2427,1871	no	missense	ZCCHC16	NM_001004308.2	29	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	possibly-damaging	273/311	111698774	2,10561	2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698774G>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.818G>A	X.37:g.111698774G>A	ENSP00000340590:p.Arg273His		Somatic				ZCCHC16_uc022cct.1_Missense_Mutation_p.R273H	p.R273H	NM_001004308	NP_001004308	WXS	Illumina GAIIx	Phase_I	Q6ZR62	ZCH16_HUMAN			2	1259	+			273					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.818G>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020201	0.07634	0.0	2.97E-4	ENSG00000187823	ENST00000340433	T	0.77229	-1.08	4.12	-2.82	0.05787	.	0.205055	0.24678	N	0.036493	T	0.69611	0.3130	M	0.64567	1.98	0.09310	N	0.999998	B	0.18013	0.025	B	0.11329	0.006	T	0.57723	-0.7762	10	0.52906	T	0.07	-8.2136	10.5022	0.44813	0.7109:0.0:0.2891:0.0	.	273	Q6ZR62	ZCH16_HUMAN	H	273	ENSP00000340590:R273H	ENSP00000340590:R273H	R	+	2	0	ZCCHC16	111585430	0.010000	0.17322	0.152000	0.22495	0.116000	0.19942	-1.221000	0.02968	-0.976000	0.03542	-2.157000	0.00329	CGC		0.552	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		4	161	0	0	0	1	0	4	161					A	111698774	G	A	111698774	3	1	385	1	0	0	0	0	1	0	0	0	17581	1087	38	1	820	1	ZCCHC16	23	111698774	Missense_Mutation	SNP	G	TCGA-IM-A3U2-01A-21D-A22D-08	42273958	111698774	43571786	61	6578											
SEPT6	23157	broad.mit.edu	37	X	118771054	118771054	+	Missense_Mutation	SNP	A	A	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:118771054A>C	ENST00000343984.5	-	7	1156	c.892T>G	c.(892-894)Tat>Gat	p.Y298D	SEPT6_ENST00000394610.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000354228.4_Missense_Mutation_p.Y298D|SEPT6_ENST00000394617.2_Missense_Mutation_p.Y328D|SEPT6_ENST00000489216.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000360156.7_Missense_Mutation_p.Y298D|SEPT6_ENST00000354416.3_Missense_Mutation_p.Y298D|SEPT6_ENST00000394616.4_Missense_Mutation_p.Y240D	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	298	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						CAGCGGCGATACAGCTCATAG	0.612			T	MLL	AML																																	uc011mtw.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0		p.R328R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(982-984)Tat>Gat		Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.							125	93	104					X																	118771054		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:118771054A>C	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.892T>G	X.37:g.118771054A>C	ENSP00000341524:p.Tyr298Asp		Somatic				SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Missense_Mutation_p.Y298D|SEPT6_uc004ert.3_Missense_Mutation_p.Y298D|SEPT6_uc004eru.3_Missense_Mutation_p.Y298D|SEPT6_uc004erv.3_Missense_Mutation_p.Y298D|SEPT6_uc004erw.3_Missense_Mutation_p.Y240D|SEPT6_uc011mtv.1_Missense_Mutation_p.Y240D	p.Y328D	NM_145800	NP_665799	WXS	Illumina GAIIx	Phase_I	Q14141	SEPT6_HUMAN			7	1055	-			298					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.982T>G	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483104	0.84747	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84804	0.5553	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.999;0.997	D	0.90245	0.4289	10	0.87932	D	0	.	13.4229	0.61009	1.0:0.0:0.0:0.0	.	328;240;298;298	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	D	298;298;298;298;298;298;240;328	ENSP00000353278:Y298D;ENSP00000346169:Y298D;ENSP00000418715:Y298D;ENSP00000346397:Y298D;ENSP00000378108:Y298D;ENSP00000341524:Y298D;ENSP00000378114:Y240D;ENSP00000378115:Y328D	ENSP00000341524:Y298D	Y	-	1	0	SEPT6	118655082	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	1.763000	0.52060	0.481000	0.45027	TAT		0.612	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		50	137	0	0	0	1	0	50	137					C	118771054	A	C	118771054	3	2	385	1	0	0	0	0	1	0	0	0	14068	391	14	5	450	5	SEPT6	23	118771054	Missense_Mutation	SNP	A	TCGA-IM-A3U2-01A-21D-A22D-08	7072280	118771054	36499506	62	6579											
IGSF1	3547	broad.mit.edu	37	X	130416966	130416966	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:130416966T>A	ENST00000361420.3	-	6	1019	c.940A>T	c.(940-942)Atc>Ttc	p.I314F	IGSF1_ENST00000370903.3_Missense_Mutation_p.I314F|IGSF1_ENST00000370910.1_Missense_Mutation_p.I305F|IGSF1_ENST00000370904.1_Missense_Mutation_p.I305F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	314					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCACCCAGATTTTCAGGACA	0.433																																						uc004ewe.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(940-942)Atc>Ttc		Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.							106	87	93					X																	130416966		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416966T>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.940A>T	X.37:g.130416966T>A	ENSP00000355010:p.Ile314Phe		Somatic				IGSF1_uc004ewd.3_Missense_Mutation_p.I314F|IGSF1_uc022cdv.1_Missense_Mutation_p.I305F|IGSF1_uc004ewf.2_Missense_Mutation_p.I294F	p.I314F	NM_001170961	NP_001164432	WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			5	1223	-			314					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.940A>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154942	0.57259	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00986	5.47;5.47;5.47;5.47	4.14	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.136068	0.34200	N	0.004174	T	0.02767	0.0083	M	0.84773	2.715	0.38150	D	0.938707	B;P	0.46784	0.029;0.884	B;P	0.49887	0.022;0.625	T	0.37126	-0.9719	10	0.87932	D	0	.	5.332	0.15938	0.0:0.1283:0.0:0.8717	.	305;314	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	F	305;314;305;314	ENSP00000359947:I305F;ENSP00000355010:I314F;ENSP00000359941:I305F;ENSP00000359940:I314F	ENSP00000355010:I314F	I	-	1	0	IGSF1	130244647	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.751000	0.26348	0.746000	0.32786	0.481000	0.45027	ATC		0.433	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			49	89	0	0	0	1	0	49	89					A	130416966	T	A	130416966	3	1	385	1	0	0	0	0	1	0	0	0	7596	1493	52	5	3145	5	IGSF1	23	130416966	Missense_Mutation	SNP	T	TCGA-IM-A3U2-01A-21D-A22D-08	11645912	130416966	24853594	63	6580											
VPS13D	55187	broad.mit.edu	37	1	12387912	12387912	+	Splice_Site	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:12387912G>A	ENST00000358136.3	+	36	8327		c.e36+1		VPS13D_ENST00000356315.4_Splice_Site	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)		ACCTTTTCCCGTGAGTGTTGT	0.403																																						uc001atv.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.e36+1		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							138	122	128					1																	12387912		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12387912G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8197+1G>A	1.37:g.12387912G>A			Somatic				VPS13D_uc001atw.3_Splice_Site_p.R2733_splice|VPS13D_uc001atx.3_Splice_Site_p.R1921_splice|VPS13D_uc001aty.1_Splice_Site_p.R471_splice	p.R2733_splice	NM_015378	NP_056193	WXS	Illumina GAIIx	Phase_I	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)	36	8338	+	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)	2733						Splice_Site	SNP	ENST00000358136.3	37	c.8197_splice	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872072	0.91587	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12310499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	2.750000	0.94351	0.655000	0.94253	.		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	3	38	0	0	0	1	0	3	38					A	12387912	G	A	12387912	5	1	386	1	0	0	0	0	0	0	1	0	17189	1159	40	1	8336	1	VPS13D	1	12387912	Splice_Site	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		12387912	236862709	1	6581											
ADC	113451	broad.mit.edu	37	1	33583639	33583639	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:33583639C>T	ENST00000294517.6	+	11	1753	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	ADC_ENST00000398167.1_Missense_Mutation_p.A409V|ADC_ENST00000373441.1_Missense_Mutation_p.A409V|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.A389V	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		389					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	AACATGGGCGCCTACACTGTG	0.632																																						uc009vug.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1225-1227)gCc>gTc		Homo sapiens arginine decarboxylase (ADC), mRNA.	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						61	68	65					1																	33583639		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583639C>T																												ENST00000294517.6:c.1166C>T	1.37:g.33583639C>T	ENSP00000294517:p.Ala389Val		Somatic				ADC_uc001bwr.3_Missense_Mutation_p.A389V|ADC_uc001bws.3_Missense_Mutation_p.A389V|ADC_uc009vue.3_Missense_Mutation_p.A389V|ADC_uc001bwt.1_Missense_Mutation_p.A294V|ADC_uc001bwu.3_Missense_Mutation_p.A294V|ADC_uc001bwv.3_Missense_Mutation_p.A294V|ADC_uc001bwx.1_Missense_Mutation_p.A366V	p.A409V	NM_052998	NP_443724	WXS	Illumina GAIIx	Phase_I	Q96A70	ADC_HUMAN			7	1298	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	389					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1226C>T	CCDS375.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143370	0.77888	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.92	4.92	0.64577	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.64402	D	0.000010	D	0.87354	0.6156	H	0.96460	3.825	0.80722	D	1	P;D;D	0.63046	0.93;0.992;0.992	P;P;P	0.57283	0.677;0.817;0.817	D	0.91748	0.5410	10	0.87932	D	0	-16.7378	17.2711	0.87102	0.0:1.0:0.0:0.0	.	409;294;389	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	V	389;389;409;409	ENSP00000294517:A389V;ENSP00000362542:A389V;ENSP00000381233:A409V;ENSP00000362540:A409V	ENSP00000294517:A389V	A	+	2	0	ADC	33356226	1.000000	0.71417	0.998000	0.56505	0.231000	0.25187	7.474000	0.81024	2.434000	0.82447	0.603000	0.83216	GCC		0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			13	56	0	0	0	1	0	13	56					T	33583639	C	T	33583639	3	4	386	1	0	0	0	0	1	0	0	0	287	739	26	2	1196	2	ADC	1	33583639	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	21195727	33583639	215666982	2	6582											
ATPAF1	64756	broad.mit.edu	37	1	47110844	47110844	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:47110844T>C	ENST00000371937.4	-	7	777	c.673A>G	c.(673-675)Ata>Gta	p.I225V	ATPAF1_ENST00000576409.1_Missense_Mutation_p.I248V|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000542495.1_Missense_Mutation_p.I74V|ATPAF1_ENST00000532925.1_Missense_Mutation_p.I137V|ATPAF1_ENST00000329231.4_Intron	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	225					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TGAATATTTATAAGTGCAGTG	0.443																																					Melanoma(138;107 1777 21672 30337 52312)	uc001cqh.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(673-675)Ata>Gta		Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							171	165	167					1																	47110844		2203	4300	6503	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47110844T>C	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"Mitochondrial respiratory chain complex assembly factors"	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.673A>G	1.37:g.47110844T>C	ENSP00000361005:p.Ile225Val		Somatic				ATPAF1_uc009vyk.3_Missense_Mutation_p.I74V|ATPAF1_uc010omg.2_Missense_Mutation_p.I137V|ATPAF1_uc001cqi.3_Intron	p.I225V	NM_022745	NP_073582	WXS	Illumina GAIIx	Phase_I	Q5TC12	ATPF1_HUMAN			6	778	-	Acute lymphoblastic leukemia(166;0.155)		225					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.673A>G		.	.	.	.	.	.	.	.	.	.	T	22.5	4.298470	0.81025	.	.	ENSG00000123472	ENST00000371937;ENST00000492233;ENST00000542495;ENST00000532925	T	0.47177	0.85	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	M	0.79475	2.455	0.58432	D	0.999994	D;D	0.71674	0.997;0.998	D;D	0.85130	0.997;0.967	T	0.67643	-0.5618	10	0.30078	T	0.28	-11.211	16.1678	0.81782	0.0:0.0:0.0:1.0	.	137;225	B7Z7I6;Q5TC12	.;ATPF1_HUMAN	V	225;29;74;137	ENSP00000361005:I225V	ENSP00000361005:I225V	I	-	1	0	ATPAF1	46883431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.992000	0.76238	2.218000	0.71995	0.528000	0.53228	ATA		0.443	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		48	117	0	0	0	1	0	48	117					C	47110844	T	C	47110844	3	2	386	1	0	0	0	0	1	0	0	0	1200	1406	49	3	325	3	ATPAF1	1	47110844	Missense_Mutation	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	13527205	47110844	202139777	3	6583											
HIPK1	204851	broad.mit.edu	37	1	114499825	114499825	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:114499825C>T	ENST00000369558.1	+	7	1904	c.1672C>T	c.(1672-1674)Ccc>Tcc	p.P558S	HIPK1_ENST00000426820.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369553.1_Missense_Mutation_p.P164S|HIPK1_ENST00000406344.1_Missense_Mutation_p.P164S|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369555.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369554.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369559.4_Missense_Mutation_p.P558S|HIPK1_ENST00000340480.4_Missense_Mutation_p.P184S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	558					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCAAGAGTCCCTTCACTAC	0.388																																						uc001eem.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1672-1674)Ccc>Tcc		Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.							152	128	136					1																	114499825		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499825C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1672C>T	1.37:g.114499825C>T	ENSP00000358571:p.Pro558Ser		Somatic				HIPK1_uc001eel.3_Missense_Mutation_p.P558S|HIPK1_uc001een.3_Missense_Mutation_p.P558S|HIPK1_uc001eeo.3_Missense_Mutation_p.P184S|HIPK1_uc001eep.3_Missense_Mutation_p.P164S	p.P558S	NM_198268	NP_938010	WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1833	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	558					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1672C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380031	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.50277	0.77;0.79;0.82;0.75;0.75;0.82;3.82;1.91;1.91	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.44993	0.1320	L	0.31752	0.955	0.47819	D	0.999525	P;P;D	0.67145	0.699;0.9;0.996	B;B;D	0.78314	0.306;0.362;0.991	T	0.11867	-1.0570	10	0.09843	T	0.71	.	19.2559	0.93945	0.0:1.0:0.0:0.0	.	164;558;558	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	S	629;558;558;558;558;558;184;164;164	ENSP00000407442:P629S;ENSP00000358572:P558S;ENSP00000409673:P558S;ENSP00000358567:P558S;ENSP00000358568:P558S;ENSP00000358571:P558S;ENSP00000340956:P184S;ENSP00000358566:P164S;ENSP00000384960:P164S	ENSP00000340956:P184S	P	+	1	0	HIPK1	114301348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.592000	0.53993	2.861000	0.98227	0.650000	0.86243	CCC		0.388	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		6	122	0	0	0	1	0	6	122					T	114499825	C	T	114499825	3	4	386	1	0	0	0	0	1	0	0	0	7116	855	30	2	1712	2	HIPK1	1	114499825	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	67388981	114499825	134750796	4	6584											
FAM161A	84140	broad.mit.edu	37	2	62081111	62081111	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:62081111G>C	ENST00000405894.3	-	1	167	c.66C>G	c.(64-66)atC>atG	p.I22M	FAM161A_ENST00000404929.1_Missense_Mutation_p.I22M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	22					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						GCGCTCCAGTGATGGGATTTA	0.672																																						uc002sbm.4																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(64-66)atC>atG		Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.							29	29	29					2																	62081111		1568	3582	5150	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62081111G>C		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.66C>G	2.37:g.62081111G>C	ENSP00000385893:p.Ile22Met		Somatic				FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Missense_Mutation_p.I22M|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_5'UTR	p.I22M	NM_001201543	NP_001188472	WXS	Illumina GAIIx	Phase_I	Q3B820	F161A_HUMAN			0	168	-			22					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.66C>G	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087274	0.20390	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.22539	2.76;1.95	4.08	2.23	0.28157	.	.	.	.	.	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B;P	0.35124	0.353;0.485	B;B	0.34652	0.123;0.187	T	0.19484	-1.0304	9	0.44086	T	0.13	.	5.7186	0.17974	0.1073:0.1975:0.6951:0.0	.	22;22	Q3B820;Q3B820-3	F161A_HUMAN;.	M	22	ENSP00000385158:I22M;ENSP00000385893:I22M	ENSP00000303170:I22M	I	-	3	3	FAM161A	61934615	0.021000	0.18746	0.022000	0.16811	0.011000	0.07611	0.593000	0.23999	0.655000	0.30866	-0.244000	0.11960	ATC		0.672	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		15	20	0	0	0	1	0	15	20					C	62081111	G	C	62081111	3	2	386	1	0	0	0	0	1	0	0	0	5472	1280	45	4	1940	4	FAM161A	2	62081111	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		62081111	181118262	5	6585											
HK2	3099	broad.mit.edu	37	2	75113626	75113626	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:75113626G>A	ENST00000290573.2	+	15	2645	c.2045G>A	c.(2044-2046)aGc>aAc	p.S682N	HK2_ENST00000409174.1_Missense_Mutation_p.S654N	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	682	Catalytic.|Hexokinase type-2 2.|Substrate 2 binding.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGCACGGGCAGCAATGCCTGC	0.592																																						uc002snd.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2044-2046)aGc>aAc		Homo sapiens hexokinase 2 (HK2), mRNA.							104	96	99					2																	75113626		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113626G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2045G>A	2.37:g.75113626G>A	ENSP00000290573:p.Ser682Asn		Somatic					p.S682N	NM_000189	NP_000180	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			14	3971	+			682			Catalytic.|Substrate 2 binding.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2045G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530729	0.64860	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96745	-4.11;-4.11	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.036056	0.85682	D	0.000000	D	0.97151	0.9069	M	0.92412	3.305	0.48762	D	0.999703	P	0.40578	0.722	B	0.41202	0.35	D	0.97807	1.0248	10	0.66056	D	0.02	-27.503	16.9239	0.86170	0.0:0.0:1.0:0.0	.	682	P52789	HXK2_HUMAN	N	682;682;654	ENSP00000290573:S682N;ENSP00000387140:S654N	ENSP00000290573:S682N	S	+	2	0	HK2	74967134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.990000	0.49401	2.865000	0.98341	0.655000	0.94253	AGC		0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		3	92	0	0	0	1	0	3	92					A	75113626	G	A	75113626	3	1	386	1	0	0	0	0	1	0	0	0	7191	971	34	2	2103	2	HK2	2	75113626	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	13032515	75113626	168085747	6	6586											
ABCB11	8647	broad.mit.edu	37	2	169781177	169781177	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:169781177T>C	ENST00000263817.6	-	27	3879	c.3755A>G	c.(3754-3756)gAa>gGa	p.E1252G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1252	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|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)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTTTCACTTTCTGTGTCTAA	0.363																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(3754-3756)gAa>gGa		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						97	97	97					2																	169781177		1857	4096	5953	SO:0001583	missense	8647				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169781177T>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3755A>G	2.37:g.169781177T>C	ENSP00000263817:p.Glu1252Gly		Somatic				ABCB11_uc010zda.1_Missense_Mutation_p.E670G|ABCB11_uc010zdb.1_Missense_Mutation_p.E728G	p.E1252G	NM_003742	NP_003733	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			26	3881	-			1252			ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3755A>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725880	0.89298	.	.	ENSG00000073734	ENST00000263817	D	0.85484	-1.99	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92917	0.6352	10	0.87932	D	0	-4.0579	15.9338	0.79686	0.0:0.0:0.0:1.0	.	670;1252	B4DZQ8;O95342	.;ABCBB_HUMAN	G	1252	ENSP00000263817:E1252G	ENSP00000263817:E1252G	E	-	2	0	ABCB11	169489423	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.167000	0.68274	0.456000	0.33151	GAA		0.363	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		6	72	0	0	0	1	0	6	72					C	169781177	T	C	169781177	3	2	386	1	0	0	0	0	1	0	0	0	42	1783	62	3	218	3	ABCB11	2	169781177	Missense_Mutation	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	94667551	169781177	73418196	7	6587											
TTN	7273	broad.mit.edu	37	2	179598614	179598614	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:179598614G>T	ENST00000591111.1	-	51	14775	c.14551C>A	c.(14551-14553)Cca>Aca	p.P4851T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3924T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P5168T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12233	Ig-like 29.				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)			ACAAAGGTTGGAGGTTCTAGT	0.368																																						uc021vsy.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.(11770-11772)Cca>Aca		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							51	49	49					2																	179598614		1870	4102	5972	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598614G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14551C>A	2.37:g.179598614G>T	ENSP00000465570:p.Pro4851Thr		Somatic				TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P585T	p.P3924T	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11995	-			4851					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.11770C>A		.	.	.	.	.	.	.	.	.	.	G	13.37	2.215640	0.39102	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	D	0.95105	0.8414	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96665	0.9492	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	4851	Q8WZ42	TITIN_HUMAN	T	3924	ENSP00000343764:P3924T	ENSP00000343764:P3924T	P	-	1	0	TTN	179306859	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.395000	0.97266	2.840000	0.97914	0.655000	0.94253	CCA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	34	0	0	0	1	0	6	34					T	179598614	G	T	179598614	3	4	386	1	0	0	0	0	1	0	0	0	16732	1174	41	4	89267	4	TTN	2	179598614	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	9817437	179598614	63600759	8	6588											
CHRND	1144	broad.mit.edu	37	2	233398945	233398945	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:233398945G>A	ENST00000258385.3	+	11	1296	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	CHRND_ENST00000543200.1_Missense_Mutation_p.A407T|CHRND_ENST00000457943.2_Missense_Mutation_p.A228T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	422					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCGGCCCCCAGCAAGCTCTGA	0.592																																						uc002vsw.3																			0		p.P421Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(1264-1266)Gca>Aca		Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.							47	51	50					2																	233398945		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233398945G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1264G>A	2.37:g.233398945G>A	ENSP00000258385:p.Ala422Thr		Somatic				CHRND_uc010zmg.2_Missense_Mutation_p.A407T|CHRND_uc010zmh.2_Missense_Mutation_p.A228T	p.A422T	NM_000751	NP_000742	WXS	Illumina GAIIx	Phase_I	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	10	1268	+		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)	422					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.1264G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	g	13.11	2.139802	0.37728	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85171	-1.95;-1.95;-1.95	5.19	3.27	0.37495	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.020910	0.07976	U	0.984799	T	0.73938	0.3651	N	0.16066	0.365	0.18873	N	0.999982	B;B;B;B	0.33777	0.425;0.32;0.32;0.32	B;B;B;B	0.34301	0.089;0.179;0.179;0.179	T	0.56878	-0.7906	10	0.12430	T	0.62	.	12.2737	0.54721	0.0:0.2352:0.7648:0.0	.	228;407;422;422	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	T	407;422;228	ENSP00000438380:A407T;ENSP00000258385:A422T;ENSP00000391055:A228T	ENSP00000258385:A422T	A	+	1	0	CHRND	233107189	0.000000	0.05858	0.970000	0.41538	0.903000	0.53119	0.291000	0.18994	1.164000	0.42652	0.457000	0.33378	GCA		0.592	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			3	59	0	0	0	1	0	3	59					A	233398945	G	A	233398945	3	1	386	1	0	0	0	0	1	0	0	0	3394	971	34	2	1306	2	CHRND	2	233398945	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	53800331	233398945	9800428	9	6589											
DUSP7	1849	broad.mit.edu	37	3	52084880	52084880	+	Missense_Mutation	SNP	G	G	A	rs201355085		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:52084880G>A	ENST00000495880.1	-	3	1394	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	DUSP7_ENST00000296483.6_Missense_Mutation_p.T353M			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	404					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.T353M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGGTGGGCGTGGAAAAGTA	0.622																																						uc003dct.3																			1	Substitution - Missense(1)	p.T353M(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(1210-1212)aCg>aTg		Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.							152	119	130					3																	52084880		2203	4300	6503	SO:0001583	missense	1849				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52084880G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1211C>T	3.37:g.52084880G>A	ENSP00000417183:p.Thr404Met		Somatic					p.T404M	NM_001947	NP_001938	WXS	Illumina GAIIx	Phase_I	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1290	-			404					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.1211C>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	g	22.9	4.356160	0.82243	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.02863	4.13;4.17	5.75	4.88	0.63580	.	0.048847	0.85682	N	0.000000	T	0.12178	0.0296	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00460	-1.1726	10	0.87932	D	0	.	14.4233	0.67198	0.0715:0.0:0.9285:0.0	.	404	Q16829	DUS7_HUMAN	M	404;353	ENSP00000417183:T404M;ENSP00000296483:T353M	ENSP00000296483:T353M	T	-	2	0	DUSP7	52059920	1.000000	0.71417	0.937000	0.37676	0.813000	0.45954	9.859000	0.99545	1.448000	0.47680	-0.148000	0.13756	ACG		0.622	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		3	53	0	0	0	1	0	3	53					A	52084880	G	A	52084880	3	1	386	1	0	0	0	0	1	0	0	0	4830	1145	40	1	52	1	DUSP7	3	52084880	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		52084880	145937550	10	6590											
CCDC66	285331	broad.mit.edu	37	3	56597934	56597934	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:56597934A>G	ENST00000394672.3	+	4	395	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	CCDC66_ENST00000326595.7_Missense_Mutation_p.K75E|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000538560.1_Missense_Mutation_p.K109E|CCDC66_ENST00000436465.2_Missense_Mutation_p.K109E	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	109					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TCATATCCAGAAAGAGATTTC	0.358																																						uc003dhz.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(325-327)Aaa>Gaa		Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.							60	55	57					3																	56597934		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56597934A>G	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.325A>G	3.37:g.56597934A>G	ENSP00000378167:p.Lys109Glu		Somatic				CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.K75E|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dhv.2_Non-coding_Transcript|CCDC66_uc003dhw.2_Missense_Mutation_p.K109E	p.K109E	NM_001141947	NP_001135419	WXS	Illumina GAIIx	Phase_I	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	3	412	+			109					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.325A>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893150	0.33442	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	D;D;D;D;D	0.99598	-6.26;-6.26;-6.26;-6.26;-6.26	5.75	4.61	0.57282	.	.	.	.	.	D	0.98425	0.9476	L	0.56769	1.78	0.09310	N	1	B;B	0.32753	0.176;0.383	B;B	0.26094	0.037;0.066	D	0.97682	1.0173	9	0.66056	D	0.02	-12.4368	9.3364	0.38054	0.9195:0.0:0.0805:0.0	.	109;109	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	E	109;109;75;109;109	ENSP00000401451:K109E;ENSP00000378167:K109E;ENSP00000326050:K75E;ENSP00000404320:K109E;ENSP00000444919:K109E	ENSP00000326050:K75E	K	+	1	0	CCDC66	56572974	0.604000	0.26932	0.003000	0.11579	0.037000	0.13140	3.397000	0.52572	1.010000	0.39314	0.533000	0.62120	AAA		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		4	22	0	0	0	1	0	4	22					G	56597934	A	G	56597934	3	3	386	1	0	0	0	0	1	0	0	0	2838	247	9	3	339	3	CCDC66	3	56597934	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	4513054	56597934	141424496	11	6591											
CBLB	868	broad.mit.edu	37	3	105464772	105464772	+	Silent	SNP	G	G	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:105464772G>T	ENST00000264122.4	-	6	1155	c.834C>A	c.(832-834)acC>acA	p.T278T	CBLB_ENST00000403724.1_Silent_p.T278T|CBLB_ENST00000394027.3_Silent_p.T300T|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.T278T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	278	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTCCGGGTTTGGTGCTATATT	0.373			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.3				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(832-834)acC>acA		Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.							144	154	151					3																	105464772		2203	4300	6503	SO:0001819	synonymous_variant	868				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105464772G>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.834C>A	3.37:g.105464772G>T			Somatic				CBLB_uc011bhi.2_Silent_p.T300T|CBLB_uc003dwd.2_Silent_p.T278T|CBLB_uc003dwe.2_Silent_p.T278T|CBLB_uc011bhj.1_Non-coding_Transcript	p.T278T	NM_170662	NP_733762	WXS	Illumina GAIIx	Phase_I	Q13191	CBLB_HUMAN			5	1156	-			278			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.834C>A	CCDS2948.1																																																																																				0.373	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		10	169	0	0	0	1	0	10	169					T	105464772	G	T	105464772	2	4	386	1	0	0	0	0	0	0	0	1	2701	1335	47	4		4	CBLB	3	105464772	Silent	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	48866838	105464772	92557658	12	6592											
DZIP3	9666	broad.mit.edu	37	3	108405390	108405390	+	Silent	SNP	A	A	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:108405390A>G	ENST00000361582.3	+	28	3338	c.3108A>G	c.(3106-3108)agA>agG	p.R1036R	DZIP3_ENST00000463306.1_Silent_p.R1036R	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1036					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGGGAGAGAATTACAGACA	0.498																																						uc003dxd.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(3106-3108)agA>agG		Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.							123	122	123					3																	108405390		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108405390A>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3108A>G	3.37:g.108405390A>G			Somatic				DZIP3_uc003dxf.1_Silent_p.R1036R|DZIP3_uc011bhm.2_Silent_p.R487R	p.R1036R	NM_014648	NP_055463	WXS	Illumina GAIIx	Phase_I	Q86Y13	DZIP3_HUMAN			27	3530	+			1036					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.3108A>G	CCDS2952.1																																																																																				0.498	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		20	129	0	0	0	1	0	20	129					G	108405390	A	G	108405390	2	3	386	1	0	0	0	0	0	0	0	1	4865	243	9	3		3	DZIP3	3	108405390	Silent	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	2940618	108405390	89617040	13	6593											
KIAA2018	205717	broad.mit.edu	37	3	113377559	113377559	+	Silent	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:113377559T>C	ENST00000478658.1	-	5	2987	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_ENST00000316407.4_Silent_p.S990S|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	990						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393																																						uc003eam.3																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(2968-2970)tcA>tcG		Homo sapiens KIAA2018 (KIAA2018), mRNA.							113	106	108					3																	113377559		1870	4096	5966	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377559T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2970A>G	3.37:g.113377559T>C			Somatic				KIAA2018_uc003eal.3_Silent_p.S934S	p.S990S	NM_001009899	NP_001009899	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			6	3381	-			990					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.2970A>G	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		3	105	0	0	0	1	0	3	105					C	113377559	T	C	113377559	2	2	386	1	0	0	0	0	0	0	0	1	8268	1567	55	3		3	KIAA2018	3	113377559	Silent	SNP	T	TCGA-IM-A3U3-01A-11D-A22D-08	4972169	113377559	84644871	14	6594											
SLC41A3	54946	broad.mit.edu	37	3	125786908	125786908	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:125786908G>A	ENST00000315891.6	-	2	393	c.155C>T	c.(154-156)cCa>cTa	p.P52L	AC117422.1_ENST00000581281.1_RNA|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P52L|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P52L|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_5'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGTCTCCAGTGGCTTGGGGGT	0.632																																						uc003eij.3																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(154-156)cCa>cTa		Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.							111	107	108					3																	125786908		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125786908G>A		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.155C>T	3.37:g.125786908G>A	ENSP00000326070:p.Pro52Leu		Somatic				SLC41A3_uc003eil.3_Missense_Mutation_p.P52L|SLC41A3_uc003eik.3_Missense_Mutation_p.P52L|SLC41A3_uc011bkh.2_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.P52L	p.P52L	NM_001008485	NP_001008485	WXS	Illumina GAIIx	Phase_I	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	1	381	-			52					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.155C>T	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	7.387	0.630085	0.14257	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000458524;ENST00000315891;ENST00000514677;ENST00000513723;ENST00000512470;ENST00000510651;ENST00000514333;ENST00000507280;ENST00000514891;ENST00000504035;ENST00000509064;ENST00000509452	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	3.95	-0.71	0.11234	.	0.793313	0.10312	N	0.689888	T	0.16727	0.0402	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.10296	0.0;0.001;0.003;0.003	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.34700	-0.9818	10	0.11182	T	0.66	0.5592	5.3577	0.16071	0.1074:0.0:0.3311:0.5615	.	52;52;52;52	A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6	.;.;.;S41A3_HUMAN	L	52	ENSP00000353533:P52L;ENSP00000264471:P52L;ENSP00000326070:P52L;ENSP00000422828:P52L;ENSP00000425373:P52L;ENSP00000421008:P52L;ENSP00000423524:P52L;ENSP00000422458:P52L;ENSP00000422531:P52L;ENSP00000423154:P52L;ENSP00000421940:P52L;ENSP00000424882:P52L;ENSP00000422150:P52L	ENSP00000326070:P52L	P	-	2	0	SLC41A3	127269598	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.443000	0.21644	0.039000	0.15632	-0.182000	0.12963	CCA		0.632	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		13	126	0	0	0	1	0	13	126					A	125786908	G	A	125786908	3	1	386	1	0	0	0	0	1	0	0	0	14631	1348	47	2	1709	2	SLC41A3	3	125786908	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	12409349	125786908	72235522	15	6595											
GOLPH3	64083	broad.mit.edu	37	5	32126343	32126343	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:32126343G>A	ENST00000265070.6	-	4	1187	c.872C>T	c.(871-873)gCg>gTg	p.A291V	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	291					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CGCCACCACCGCCCACAGAAC	0.498																																						uc003jhp.1																			0		p.W290L(1)|p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(871-873)gCg>gTg		Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.							115	110	112					5																	32126343		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126343G>A	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.872C>T	5.37:g.32126343G>A	ENSP00000265070:p.Ala291Val		Somatic					p.A291V	NM_022130	NP_071413	WXS	Illumina GAIIx	Phase_I	Q9H4A6	GOLP3_HUMAN			3	1157	-			291					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.872C>T	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786740	0.49997	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.60345	0.873	T	0.83166	-0.0096	9	0.56958	D	0.05	.	15.3777	0.74625	0.0664:0.0:0.9336:0.0	.	291	Q9H4A6	GOLP3_HUMAN	V	291;274	.	ENSP00000265070:A291V	A	-	2	0	GOLPH3	32162100	1.000000	0.71417	0.932000	0.37286	0.066000	0.16364	9.414000	0.97362	1.595000	0.50050	-0.136000	0.14681	GCG		0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		10	179	0	0	0	1	0	10	179					A	32126343	G	A	32126343	3	1	386	1	0	0	0	0	1	0	0	0	6568	1087	38	1	28	1	GOLPH3	5	32126343	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		32126343	148788917	16	6596											
PCDHA11	56138	broad.mit.edu	37	5	140249717	140249717	+	Silent	SNP	C	C	T	rs371110623		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:140249717C>T	ENST00000398640.2	+	1	1029	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	343	Cadherin 3. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACACCAACGATAACTCTC	0.512																																						uc003lia.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1027-1029)aaC>aaT		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.		C	,,,,,,,,,,,,,,	0,4406		0,0,2203	61	70	67		,,1029,,,,,,,,,,,,1029	-4.4	0.3	5		67	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,,,,,,,,,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,,,,,,,,,	,,343/950,,,,,,,,,,,,343/811	140249717	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140249717C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1029C>T	5.37:g.140249717C>T			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.N343N	p.N343N	NM_018902	NP_061725	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1887	+			359			Cadherin 3.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1029C>T	CCDS47284.1																																																																																				0.512	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		3	97	0	0	0	1	0	3	97					T	140249717	C	T	140249717	2	4	386	1	0	0	0	0	0	0	0	1	11521	535	19	1		1	PCDHA11	5	140249717	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	108123374	140249717	40665543	17	6597											
CD74	972	broad.mit.edu	37	5	149782174	149782174	+	Missense_Mutation	SNP	C	C	T	rs139226964		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:149782174C>T	ENST00000009530.7	-	8	833	c.832G>A	c.(832-834)Gag>Aag	p.E278K	CD74_ENST00000377795.3_Nonsense_Mutation_p.W152*|CD74_ENST00000353334.6_Missense_Mutation_p.E214K|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	278					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGGTCCTCCAGTTCCAGT	0.602			T	ROS1	NSCLC																																	uc003lse.3				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(454-456)tgG>tgA		Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 3, mRNA.		C	stop/TRP,LYS/GLU,LYS/GLU	0,4406		0,0,2203	122	103	109		456,832,640	3.7	0.2	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,missense,missense	CD74	NM_001025158.2,NM_001025159.2,NM_004355.3	,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign	152/161,278/297,214/233	149782174	1,13005	2203	4300	6503	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding	g.chr5:149782174C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.832G>A	5.37:g.149782174C>T	ENSP00000009530:p.Glu278Lys		Somatic				CD74_uc003lsc.3_Missense_Mutation_p.E278K|CD74_uc003lsd.3_Missense_Mutation_p.E214K	p.W152*	NM_001025158	NP_001020329	WXS	Illumina GAIIx	Phase_I	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	643	-		all_hematologic(541;0.224)	0					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Nonsense_Mutation	SNP	ENST00000009530.7	37	c.456G>A	CCDS47309.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.29|13.29|13.29	2.194213|2.194213|2.194213	0.38707|0.38707|0.38707	0.0|0.0|0.0	1.16E-4|1.16E-4|1.16E-4	ENSG00000019582|ENSG00000019582|ENSG00000019582	ENST00000353334;ENST00000009530|ENST00000518797|ENST00000377795	T|.|.	0.58210|.|.	0.35|.|.	3.7|3.7|3.7	3.7|3.7|3.7	0.42460|0.42460|0.42460	.|.|.	0.305787|.|.	0.35903|.|.	N|.|.	0.002906|.|.	T|T|.	0.32526|0.32526|.	0.0832|0.0832|.	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	D;D;D|.|.	0.67145|.|.	0.996;0.963;0.993|.|.	D;B;D|.|.	0.75484|.|.	0.986;0.431;0.968|.|.	T|T|.	0.12915|0.12915|.	-1.0529|-1.0529|.	9|4|.	0.52906|.|0.18276	T|.|T	0.07|.|0.48	-26.0103|-26.0103|-26.0103	11.3263|11.3263|11.3263	0.49450|0.49450|0.49450	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	214;278;126|.|.	P04233-2;P04233;B4DUJ2|.|.	.;HG2A_HUMAN;.|.|.	K|E|X	214;278|272|152	ENSP00000009530:E278K|.|.	ENSP00000009530:E278K|.|ENSP00000367026:W152X	E|G|W	-|-|-	1|2|3	0|0|0	CD74|CD74|CD74	149762367|149762367|149762367	0.765000|0.765000|0.765000	0.28485|0.28485|0.28485	0.170000|0.170000|0.170000	0.22879|0.22879|0.22879	0.103000|0.103000|0.103000	0.19146|0.19146|0.19146	2.894000|2.894000|2.894000	0.48640|0.48640|0.48640	2.384000|2.384000|2.384000	0.81235|0.81235|0.81235	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAG|GGA|TGG		0.602	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		4	183	0	0	0	1	0	4	183					T	149782174	C	T	149782174	3	4	386	1	0	0	0	0	1	0	0	0	3035	865	30	2	66	2	CD74	5	149782174	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	9532457	149782174	31133086	18	6598											
C2	717	broad.mit.edu	37	6	31911265	31911265	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr6:31911265C>T	ENST00000299367.5	+	12	1804	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	CFB_ENST00000456570.1_Missense_Mutation_p.R357C|CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Missense_Mutation_p.R264C|C2_ENST00000452323.2_Missense_Mutation_p.R296C|CFB_ENST00000477310.1_Missense_Mutation_p.R281C|CFB_ENST00000556679.1_Missense_Mutation_p.R357C|C2_ENST00000442278.2_Missense_Mutation_p.R378C	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	510	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCATTGCTTCCGCGATGGCAA	0.597																																						uc011dor.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1069-1071)Cgc>Tgc		Homo sapiens complement factor B (CFB), mRNA.							104	120	114					6																	31911265		1510	2708	4218	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911265C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1528C>T	6.37:g.31911265C>T	ENSP00000299367:p.Arg510Cys		Somatic				CFB_uc003nyc.2_Missense_Mutation_p.R297C|CFB_uc011doo.2_Missense_Mutation_p.R264C|CFB_uc011dop.2_Missense_Mutation_p.R296C|CFB_uc003nyf.3_Missense_Mutation_p.R510C|CFB_uc010jtk.3_Missense_Mutation_p.R378C|CFB_uc011doq.2_Missense_Mutation_p.R481C|CFB_uc003nyh.2_Missense_Mutation_p.R161C|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.4_5'Flank	p.R357C	NM_001710	NP_001701	WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			8	1333	+			529	KK -> EE (in Ref. 10; AAA36225).		VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.1069C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316574	0.40996	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.11	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.726383	0.11289	N	0.579431	D	0.87826	0.6275	M	0.70787	2.145	0.31484	N	0.666765	D;D;D;D;D;D;D;P;D	0.71674	0.98;0.998;0.997;0.982;0.991;0.996;0.982;0.938;0.99	B;P;P;P;P;P;P;P;P	0.54924	0.408;0.764;0.667;0.667;0.576;0.56;0.576;0.642;0.598	T	0.80623	-0.1300	10	0.38643	T	0.18	-3.0248	10.6626	0.45710	0.3468:0.6532:0.0:0.0	.	357;481;296;264;378;195;378;510;297	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.;.;.;.;.;.;.;CO2_HUMAN;.	C	264;297;297;296;510;195;378;357;357;281	ENSP00000418923:R264C;ENSP00000417482:R297C;ENSP00000392322:R296C;ENSP00000299367:R510C;ENSP00000395683:R378C;ENSP00000451848:R357C;ENSP00000410815:R357C;ENSP00000418996:R281C	ENSP00000299367:R510C	R	+	1	0	CFB;C2;XXbac-BPG116M5.17	32019244	0.012000	0.17670	0.807000	0.32361	0.088000	0.18126	-0.029000	0.12329	1.125000	0.41998	0.563000	0.77884	CGC		0.597	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			21	174	0	0	0	1	0	21	174					T	31911265	C	T	31911265	3	4	386	1	0	0	0	0	1	0	0	0	2074	652	23	1	1651	1	C2	6	31911265	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		31911265	139203802	19	6599											
GTF2IRD1	9569	broad.mit.edu	37	7	73927266	73927266	+	Missense_Mutation	SNP	G	G	A	rs191451503	byFrequency	TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:73927266G>A	ENST00000265755.3	+	3	623	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R77Q	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	77					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAATGCCCGGAAGGAGCTA	0.637													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		17386	0		0	False		,,,				2504	0					uc010lbq.3																			0		p.A76V(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(229-231)cGg>cAg		Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 3, mRNA.							97	83	87					7																	73927266		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73927266G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.230G>A	7.37:g.73927266G>A	ENSP00000265755:p.Arg77Gln		Somatic				GTF2IRD1_uc003uap.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uaq.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R77Q	p.R77Q	NM_001199207	NP_001186136	WXS	Illumina GAIIx	Phase_I	Q9UHL9	GT2D1_HUMAN			2	623	+			77					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.230G>A	CCDS5571.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.536166	0.96460	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.58940	0.33;0.4;0.37;0.3	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.994;0.996;0.998	T	0.77485	-0.2570	10	0.87932	D	0	-16.0288	16.5297	0.84355	0.0:0.0:1.0:0.0	.	77;77;77;77	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	Q	77	ENSP00000265755:R77Q;ENSP00000397566:R77Q;ENSP00000408477:R77Q;ENSP00000418383:R77Q	ENSP00000265755:R77Q	R	+	2	0	GTF2IRD1	73565202	1.000000	0.71417	0.914000	0.36105	0.956000	0.61745	8.865000	0.92300	2.219000	0.72066	0.650000	0.86243	CGG		0.637	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		3	98	0	0	0	1	0	3	98					A	73927266	G	A	73927266	3	1	386	1	0	0	0	0	1	0	0	0	6868	1116	39	1	236	1	GTF2IRD1	7	73927266	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		73927266	85211397	20	6600											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	56	0	0	0	1	0	37	56					T	140453136	A	T	140453136	3	4	386	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08	66525870	140453136	18685527	21	6601											
TMEM71	137835	broad.mit.edu	37	8	133740227	133740227	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr8:133740227C>T	ENST00000356838.3	-	6	578	c.436G>A	c.(436-438)Gat>Aat	p.D146N	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.D165N	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	165						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAGTCTAAATCATCTGCTGAA	0.478																																						uc003ytn.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(436-438)Gat>Aat		Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.							59	57	58					8																	133740227		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133740227C>T	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.436G>A	8.37:g.133740227C>T	ENSP00000349296:p.Asp146Asn		Somatic				TMEM71_uc003ytm.2_5'UTR|TMEM71_uc003yto.3_Intron	p.D146N	NM_144649	NP_653250	WXS	Illumina GAIIx	Phase_I	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		5	665	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		165					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.436G>A	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.37|11.37	1.619494|1.619494	0.28801|0.28801	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000523829;ENST00000356838|ENST00000522780	.|.	.|.	.|.	5.91|5.91	2.99|2.99	0.34606|0.34606	.|.	0.407172|.	0.24479|.	N|.	0.038165|.	T|T	0.48003|0.48003	0.1476|0.1476	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;B|.	0.14438|.	0.01;0.01|.	B;B|.	0.17098|.	0.017;0.015|.	T|T	0.36720|0.36720	-0.9736|-0.9736	9|5	0.59425|.	D|.	0.04|.	-2.0827|-2.0827	7.3154|7.3154	0.26498|0.26498	0.0:0.6866:0.1542:0.1593|0.0:0.6866:0.1542:0.1593	.|.	165;146|.	Q6P5X7;Q6P5X7-2|.	TMM71_HUMAN;.|.	N|I	165;146|2	.|.	ENSP00000349296:D146N|.	D|M	-|-	1|3	0|0	TMEM71|TMEM71	133809409|133809409	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.035000|0.035000	0.12851|0.12851	0.206000|0.206000	0.17375|0.17375	0.850000|0.850000	0.35239|0.35239	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.478	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		9	60	0	0	0	1	0	9	60					T	133740227	C	T	133740227	3	4	386	1	0	0	0	0	1	0	0	0	16197	826	29	2	414	2	TMEM71	8	133740227	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		133740227	12623795	22	6602											
GOLGA1	2800	broad.mit.edu	37	9	127651460	127651460	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr9:127651460G>A	ENST00000373555.4	-	18	2056	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	575					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCCTGCAATGGGCCCCGCAGC	0.647																																						uc004bpc.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1723-1725)Cca>Tca		Homo sapiens golgin A1 (GOLGA1), mRNA.							55	48	51					9																	127651460		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127651460G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1723C>T	9.37:g.127651460G>A	ENSP00000362656:p.Pro575Ser		Somatic				GOLGA1_uc010mws.3_Non-coding_Transcript	p.P575S	NM_002077	NP_002068	WXS	Illumina GAIIx	Phase_I	Q92805	GOGA1_HUMAN			17	2065	-			575					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1723C>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668964	0.14776	.	.	ENSG00000136935	ENST00000373555	T	0.20332	2.08	4.44	3.5	0.40072	.	0.337294	0.21110	N	0.080009	T	0.13329	0.0323	N	0.22421	0.69	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.22626	-1.0211	10	0.19590	T	0.45	3.1982	11.5159	0.50520	0.0:0.0:0.8199:0.1801	.	575	Q92805	GOGA1_HUMAN	S	575	ENSP00000362656:P575S	ENSP00000362656:P575S	P	-	1	0	GOLGA1	126691281	0.943000	0.32029	0.013000	0.15412	0.160000	0.22226	3.257000	0.51500	1.120000	0.41904	0.448000	0.29417	CCA		0.647	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		5	87	0	0	0	1	0	5	87					A	127651460	G	A	127651460	3	1	386	1	0	0	0	0	1	0	0	0	6551	1232	43	2	604	2	GOLGA1	9	127651460	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08		127651460	13561971	23	6603											
ANK3	288	broad.mit.edu	37	10	61835974	61835974	+	Silent	SNP	C	C	T	rs554877557		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr10:61835974C>T	ENST00000280772.2	-	37	4856	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1555	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTAGTTGACGCGCCTAATG	0.418													C|||	1	0.000199681	0	0	5008	,	,		21743	0		0	False		,,,				2504	0.001					uc001jky.3																			0		p.A1555T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4663-4665)gcG>gcA		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							215	190	199					10																	61835974		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835974C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4665G>A	10.37:g.61835974C>T			Somatic				ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	p.A1555A	NM_020987	NP_066267	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			36	5003	-			1555			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4665G>A	CCDS7258.1																																																																																				0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	212	0	0	0	1	0	6	212					T	61835974	C	T	61835974	2	4	386	1	0	0	0	0	0	0	0	1	622	523	19	1		1	ANK3	10	61835974	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		61835974	73698773	24	6604											
STT3A	3703	broad.mit.edu	37	11	125476246	125476246	+	Silent	SNP	C	C	T	rs370018090		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr11:125476246C>T	ENST00000529196.1	+	9	872	c.666C>T	c.(664-666)caC>caT	p.H222H	STT3A_ENST00000392708.4_Silent_p.H222H|STT3A_ENST00000531491.1_Silent_p.H130H			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	222					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|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)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCCTCTCCACGTCCTCGTGC	0.478																																						uc001qcd.2																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(664-666)caC>caT		Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.		C		0,4402		0,0,2201	371	317	335		666	-6.7	0.8	11		335	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	STT3A	NM_152713.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		222/706	125476246	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125476246C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.666C>T	11.37:g.125476246C>T			Somatic				STT3A_uc009zbm.2_Silent_p.H222H|STT3A_uc001qce.2_Silent_p.H222H|STT3A_uc010sbg.1_Silent_p.H130H|STT3A_uc009zbn.2_5'UTR	p.H222H	NM_152713	NP_689926	WXS	Illumina GAIIx	Phase_I	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	7	776	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	222					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.666C>T	CCDS8458.1																																																																																				0.478	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		4	170	0	0	0	1	0	4	170					T	125476246	C	T	125476246	2	4	386	1	0	0	0	0	0	0	0	1	15332	535	19	1		1	STT3A	11	125476246	Silent	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		125476246	9530270	25	6605											
NAV3	89795	broad.mit.edu	37	12	78400935	78400935	+	Missense_Mutation	SNP	A	A	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr12:78400935A>C	ENST00000397909.2	+	8	1790	c.1617A>C	c.(1615-1617)caA>caC	p.Q539H	NAV3_ENST00000536525.2_Missense_Mutation_p.Q539H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q539H|NAV3_ENST00000228327.6_Missense_Mutation_p.Q539H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	539						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTAAAGCAAACCATTTCAC	0.468										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1615-1617)caA>caC		Homo sapiens neuron navigator 3 (NAV3), mRNA.							61	61	61					12																	78400935		1899	4123	6022	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400935A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1617A>C	12.37:g.78400935A>C	ENSP00000381007:p.Gln539His	HNSCC(70;0.22)	Somatic				NAV3_uc001syo.3_Missense_Mutation_p.Q539H	p.Q539H	NM_014903	NP_055718	WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			7	1790	+			539					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1617A>C		.	.	.	.	.	.	.	.	.	.	A	10.46	1.356103	0.24598	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	-4.94	0.03057	.	0.192337	0.24705	U	0.036278	T	0.24624	0.0597	L	0.54323	1.7	0.36961	D	0.893349	B;D	0.60160	0.371;0.987	B;P	0.60682	0.2;0.878	T	0.04885	-1.0920	10	0.54805	T	0.06	-6.2321	16.8911	0.86087	0.3546:0.0:0.6454:0.0	.	539;539	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	539	ENSP00000446628:Q539H;ENSP00000446132:Q539H;ENSP00000381007:Q539H;ENSP00000228327:Q539H;ENSP00000266692:Q539H	ENSP00000228327:Q539H	Q	+	3	2	NAV3	76925066	0.056000	0.20664	0.203000	0.23512	0.157000	0.22087	-0.799000	0.04560	-0.870000	0.04047	-0.911000	0.02809	CAA		0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	48	0	0	0	1	0	6	48					C	78400935	A	C	78400935	3	2	386	1	0	0	0	0	1	0	0	0	10185	11	1	5	1647	5	NAV3	12	78400935	Missense_Mutation	SNP	A	TCGA-IM-A3U3-01A-11D-A22D-08		78400935	55450960	26	6606											
CAB39L	81617	broad.mit.edu	37	13	49925022	49925022	+	Missense_Mutation	SNP	C	C	T	rs149022536		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr13:49925022C>T	ENST00000355854.4	-	5	919	c.422G>A	c.(421-423)cGt>cAt	p.R141H	CAB39L_ENST00000347776.5_Missense_Mutation_p.R141H|CAB39L_ENST00000410043.1_Missense_Mutation_p.R141H|CAB39L_ENST00000409130.1_5'UTR|CAB39L_ENST00000409308.1_Missense_Mutation_p.R141H	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	141					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.R141H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AATCCCACAACGTAAGGCAAT	0.358																																						uc001vcw.3																			1	Substitution - Missense(1)	p.R141H(2)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(421-423)cGt>cAt		Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99	95	97		422,422	4.8	1.0	13	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CAB39L	NM_001079670.1,NM_030925.2	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	141/338,141/338	49925022	2,13004	2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49925022C>T	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.422G>A	13.37:g.49925022C>T	ENSP00000348113:p.Arg141His		Somatic				CAB39L_uc001vcx.3_Missense_Mutation_p.R141H|CAB39L_uc010adf.3_Missense_Mutation_p.R138H	p.R141H	NM_030925	NP_112187	WXS	Illumina GAIIx	Phase_I	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	4	920	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	141					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.422G>A	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354878	0.41700	2.27E-4	1.16E-4	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.64	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.094194	0.85682	D	0.000000	T	0.07818	0.0196	N	0.00377	-1.585	0.43211	D	0.995075	B	0.11235	0.004	B	0.10450	0.005	T	0.16808	-1.0390	9	.	.	.	-6.0057	10.1874	0.43006	0.0:0.8485:0.0:0.1515	.	141	Q9H9S4	CB39L_HUMAN	H	141;141;138;141;104;141;141	ENSP00000348113:R141H;ENSP00000261669:R141H;ENSP00000386375:R141H;ENSP00000416719:R104H;ENSP00000386328:R141H;ENSP00000409253:R141H	.	R	-	2	0	CAB39L	48823023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.194000	0.51005	1.516000	0.48900	0.650000	0.86243	CGT		0.358	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		9	78	0	0	0	1	0	9	78					T	49925022	C	T	49925022	3	4	386	1	0	0	0	0	1	0	0	0	2526	536	19	1	611	1	CAB39L	13	49925022	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		49925022	65244856	27	6607											
ARFGEF2	10564	broad.mit.edu	37	20	47611096	47611096	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr20:47611096C>T	ENST00000371917.4	+	22	3082	c.3082C>T	c.(3082-3084)Cac>Tac	p.H1028Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1028					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTGAAGGGCCACACATTGGC	0.572																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3082-3084)Cac>Tac		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							61	51	54					20																	47611096		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	g.chr20:47611096C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3082C>T	20.37:g.47611096C>T	ENSP00000360985:p.His1028Tyr		Somatic				ARFGEF2_uc010zyf.2_Missense_Mutation_p.H321Y	p.H1028Y	NM_006420	NP_006411	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		21	3234	+			1028					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3082C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	4.054	0.007673	0.07866	.	.	ENSG00000124198	ENST00000371917	T	0.22945	1.93	5.65	2.21	0.28008	Armadillo-type fold (1);	0.451658	0.26887	N	0.021996	T	0.13457	0.0326	N	0.22421	0.69	0.30641	N	0.756472	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	10	0.25751	T	0.34	.	5.3664	0.16115	0.0:0.4789:0.0:0.5211	.	1028	Q9Y6D5	BIG2_HUMAN	Y	1028	ENSP00000360985:H1028Y	ENSP00000360985:H1028Y	H	+	1	0	ARFGEF2	47044503	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	1.346000	0.33964	0.866000	0.35629	0.655000	0.94253	CAC		0.572	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	37	0	0	0	1	0	5	37					T	47611096	C	T	47611096	3	4	386	1	0	0	0	0	1	0	0	0	853	594	21	2	3168	2	ARFGEF2	20	47611096	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		47611096	15414424	28	6608											
NAP1L3	4675	broad.mit.edu	37	X	92928233	92928233	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:92928233C>T	ENST00000373079.3	-	1	334	c.71G>A	c.(70-72)aGc>aAc	p.S24N	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.S17N|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	24	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACTAGTCGAGCTAGCCATCTC	0.542																																						uc004efq.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(70-72)aGc>aAc		Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.							54	49	50					X																	92928233		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928233C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.71G>A	X.37:g.92928233C>T	ENSP00000362171:p.Ser24Asn		Somatic				FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	p.S24N	NM_004538	NP_004529	WXS	Illumina GAIIx	Phase_I	Q99457	NP1L3_HUMAN			0	450	-			24			Ser-rich.		B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.71G>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073644	0.36566	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.48836	0.8	3.65	1.86	0.25419	.	0.340383	0.31847	N	0.006978	T	0.27278	0.0669	N	0.24115	0.695	0.23585	N	0.997357	B	0.12013	0.005	B	0.09377	0.004	T	0.12091	-1.0561	10	0.45353	T	0.12	.	3.8083	0.08786	0.2387:0.631:0.0:0.1303	.	24	Q99457	NP1L3_HUMAN	N	24;17	ENSP00000362171:S24N	ENSP00000362171:S24N	S	-	2	0	NAP1L3	92814889	0.994000	0.37717	0.985000	0.45067	0.903000	0.53119	0.861000	0.27885	0.377000	0.24735	0.529000	0.55759	AGC		0.542	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		23	67	0	0	0	1	0	23	67					T	92928233	C	T	92928233	3	4	386	1	0	0	0	0	1	0	0	0	10158	797	28	2	1453	2	NAP1L3	23	92928233	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08		92928233	62342327	29	6609											
TBC1D8B	54885	broad.mit.edu	37	X	106108793	106108793	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:106108793G>A	ENST00000357242.5	+	15	2531	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R780H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	786							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAAAGTTGCGTGTTGTATCA	0.303																																						uc004emo.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2356-2358)cGt>cAt		Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.							90	82	85					X																	106108793		2201	4288	6489	SO:0001583	missense	54885					intracellular	Rab GTPase activator activity|calcium ion binding	g.chrX:106108793G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2357G>A	X.37:g.106108793G>A	ENSP00000349781:p.Arg786His		Somatic				MORC4_uc004emp.4_Intron	p.R786H	NM_017752	NP_060222	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			14	2522	+			786					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2357G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775814	0.90195	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.33654	1.4;1.4	5.49	5.49	0.81192	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70502	-0.4854	10	0.87932	D	0	-11.5945	16.8041	0.85621	0.0:0.0:1.0:0.0	.	786	Q0IIM8	TBC8B_HUMAN	H	786;780;48	ENSP00000349781:R786H;ENSP00000276175:R780H	ENSP00000276175:R780H	R	+	2	0	TBC1D8B	105995449	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.920000	0.75799	2.279000	0.76181	0.506000	0.49869	CGT		0.303	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		6	65	0	0	0	1	0	6	65					A	106108793	G	A	106108793	3	1	386	1	0	0	0	0	1	0	0	0	15623	1145	40	1	2481	1	TBC1D8B	23	106108793	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	13180560	106108793	49161767	30	6610											
ABCD1	215	broad.mit.edu	37	X	152991293	152991293	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:152991293G>A	ENST00000218104.3	+	1	971	c.572G>A	c.(571-573)cGc>cAc	p.R191H	BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_Missense_Mutation_p.R6H|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	191	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)					GGGCGGCTTCGCAACCCTGAC	0.647																																						uc004fif.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(571-573)cGc>cAc		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.							84	75	78					X																	152991293		2203	4299	6502	SO:0001583	missense	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:152991293G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.572G>A	X.37:g.152991293G>A	ENSP00000218104:p.Arg191His		Somatic				BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	p.R191H	NM_000033	NP_000024	WXS	Illumina GAIIx	Phase_I	P33897	ABCD1_HUMAN			0	971	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		191			ABC transmembrane type-1.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.572G>A	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963211	0.74016	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.99619	-6.28;-6.28	5.37	5.37	0.77165	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.205236	0.43416	D	0.000563	D	0.98994	0.9657	L	0.29908	0.895	0.35957	D	0.834337	D	0.61697	0.99	P	0.56648	0.803	D	0.99968	1.1909	10	0.56958	D	0.05	-27.7204	16.8847	0.86072	0.0:0.0:1.0:0.0	.	191	P33897	ABCD1_HUMAN	H	191;6	ENSP00000218104:R191H;ENSP00000359147:R6H	ENSP00000218104:R191H	R	+	2	0	ABCD1	152644487	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.926000	0.56491	2.247000	0.74100	0.529000	0.55759	CGC		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		15	103	0	0	0	1	0	15	103					A	152991293	G	A	152991293	3	1	386	1	0	0	0	0	1	0	0	0	60	1087	38	1	574	1	ABCD1	23	152991293	Missense_Mutation	SNP	G	TCGA-IM-A3U3-01A-11D-A22D-08	46882500	152991293	2279267	31	6611											
RENBP	5973	broad.mit.edu	37	X	153207421	153207421	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:153207421C>G	ENST00000393700.3	-	7	831	c.751G>C	c.(751-753)Ggg>Cgg	p.G251R	RENBP_ENST00000369997.3_Missense_Mutation_p.G237R|RENBP_ENST00000412763.1_Intron|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	251					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)	TGCTGTCTCCCCAGGCAGCCA	0.627																																						uc004fjo.2																			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.(751-753)Ggg>Cgg		Homo sapiens renin binding protein (RENBP), mRNA.	N-Acetyl-D-glucosamine(DB00141)						95	85	89					X																	153207421		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity	g.chrX:153207421C>G		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.751G>C	X.37:g.153207421C>G	ENSP00000377303:p.Gly251Arg		Somatic				RENBP_uc011mzh.1_Intron	p.G251R	NM_002910	NP_002901	WXS	Illumina GAIIx	Phase_I	P51606	RENBP_HUMAN			6	921	-	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)		251					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.751G>C	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.235688	0.79800	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.35421	1.31;1.31	4.92	4.92	0.64577	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78635	-0.2127	10	0.87932	D	0	-29.8075	15.9723	0.80031	0.0:1.0:0.0:0.0	.	251	P51606	RENBP_HUMAN	R	251;237	ENSP00000377303:G251R;ENSP00000359014:G237R	ENSP00000359014:G237R	G	-	1	0	RENBP	152860615	1.000000	0.71417	0.936000	0.37596	0.592000	0.36648	4.865000	0.62998	2.018000	0.59344	0.429000	0.28392	GGG		0.627	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		56	195	0	0	0	1	0	56	195					G	153207421	C	G	153207421	3	3	386	1	0	0	0	0	1	0	0	0	13225	623	22	4	552	4	RENBP	23	153207421	Missense_Mutation	SNP	C	TCGA-IM-A3U3-01A-11D-A22D-08	216128	153207421	2063139	32	6612											
GJA4	2701	broad.mit.edu	37	1	35260771	35260771	+	Silent	SNP	C	C	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:35260771C>G	ENST00000342280.4	+	2	1045	c.957C>G	c.(955-957)ccC>ccG	p.P319P		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	319			P -> S (in allele CX37*2; dbSNP:rs1764391). {ECO:0000269|PubMed:10447790, ECO:0000269|PubMed:10728596, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCAAAAACCCCCAAGTCGTC	0.587																																						uc009vul.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(1183-1185)ccC>ccG		Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.							43	41	42					1																	35260771		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260771C>G	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.957C>G	1.37:g.35260771C>G			Somatic				GJA4_uc001bya.3_Silent_p.P319P|GJA4_uc009vum.1_Silent_p.P319P|GJA4_uc021olb.1_Silent_p.P319P	p.P395P	NM_002060	NP_002051	WXS	Illumina GAIIx	Phase_I	P35212	CXA4_HUMAN			1	1209	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	319					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.1185C>G	CCDS30669.1																																																																																				0.587	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		13	51	0	0	0	1	0	13	51					G	35260771	C	G	35260771	2	3	387	1	0	0	0	0	0	0	0	1	6403	610	22	4		4	GJA4	1	35260771	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		35260771	213989850	1	6613											
NBPF10	100132406	broad.mit.edu	37	1	145328378	145328378	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:145328378T>C	ENST00000342960.5	+	33	4261	c.4226T>C	c.(4225-4227)aTt>aCt	p.I1409T	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						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)		ATTGCAGGAATTAAAAAGGAC	0.463																																						uc021oul.1																			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.(4225-4227)aTt>aCt		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145328378T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4226T>C	1.37:g.145328378T>C	ENSP00000345684:p.Ile1409Thr		Somatic				NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	p.I1409T	NM_001039703	NP_001034792	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4261	+	all_hematologic(923;0.032)		1409					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4226T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.378962	0.01204	.	.	ENSG00000163386	ENST00000342960	T	0.03413	3.94	.	.	.	.	.	.	.	.	T	0.00936	0.0031	L	0.41961	1.31	0.09310	N	1	.	.	.	.	.	.	T	0.46303	-0.9201	5	0.15952	T	0.53	.	.	.	.	.	.	.	.	T	1409	ENSP00000345684:I1409T	ENSP00000345684:I1409T	I	+	2	0	NBPF10	144039735	0.026000	0.19158	0.003000	0.11579	0.398000	0.30690	-0.605000	0.05661	-0.819000	0.04323	0.128000	0.15822	ATT		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	51	0	0	0	1	0	3	51					C	145328378	T	C	145328378	3	2	387	1	0	0	0	0	1	0	0	0	10193	1493	52	3	4356	3	NBPF10	1	145328378	Missense_Mutation	SNP	T	TCGA-J8-A3NZ-01A-11D-A21A-08	110067607	145328378	103922243	2	6614											
SCN3A	6328	broad.mit.edu	37	2	165952089	165952089	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr2:165952089C>A	ENST00000360093.3	-	25	4854	c.4363G>T	c.(4363-4365)Ggg>Tgg	p.G1455W	SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1406W|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1455W	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1455					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGAATGACCCAAAGATGATA	0.284																																						uc002ucx.3																			0		p.F1454S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4363-4365)Ggg>Tgg		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						84	81	82					2																	165952089		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952089C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4363G>T	2.37:g.165952089C>A	ENSP00000353206:p.Gly1455Trp		Somatic				SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.G1406W|SCN3A_uc002ucz.3_Missense_Mutation_p.G1406W	p.G1455W	NM_006922	NP_008853	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			24	4855	-			1455					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4363G>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.714492	0.89112	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98947	-5.26;-5.26;-5.26	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.99946	5.015	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	0.96917	0.9671	10	0.87932	D	0	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	1406;1406;1455	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	W	1455;1455;1406	ENSP00000353206:G1455W;ENSP00000283254:G1455W;ENSP00000386726:G1406W	ENSP00000283254:G1455W	G	-	1	0	SCN3A	165660335	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.609000	0.82925	2.894000	0.99253	0.591000	0.81541	GGG		0.284	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		3	56	0	0	0	1	0	3	56					A	165952089	C	A	165952089	3	1	387	1	0	0	0	0	1	0	0	0	13918	594	21	4	1655	4	SCN3A	2	165952089	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		165952089	77247284	3	6615											
C3orf15	89876	broad.mit.edu	37	3	119462867	119462867	+	Silent	SNP	C	C	T			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:119462867C>T	ENST00000273390.5	+	14	1803	c.1726C>T	c.(1726-1728)Cta>Tta	p.L576L	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	412						mitochondrion (GO:0005739)											AGGAAGGGCACTAGCAGACAT	0.488																																						uc003ede.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1726-1728)Cta>Tta		Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.							94	81	86					3																	119462867		2203	4300	6503	SO:0001819	synonymous_variant	89876					mitochondrion	protein binding	g.chr3:119462867C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1726C>T	3.37:g.119462867C>T			Somatic				C3orf15_uc010hqz.3_Silent_p.L514L|C3orf15_uc011bjd.2_Silent_p.L450L|C3orf15_uc011bje.2_Silent_p.L556L	p.L576L	NM_033364	NP_203528	WXS	Illumina GAIIx	Phase_I	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	13	1803	+			412					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1726C>T	CCDS2994.1																																																																																				0.488	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		54	60	0	0	0	1	0	54	60					T	119462867	C	T	119462867	2	4	387	1	0	0	0	0	0	0	0	1	2209	564	20	2		2	C3orf15	3	119462867	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		119462867	78559563	4	6616											
PODXL2	50512	broad.mit.edu	37	3	127379384	127379384	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127379384G>A	ENST00000342480.6	+	3	552	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	171	Glu-rich.				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						aggaagaggaggagagggaga	0.557																																						uc003ejq.2																			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.(511-513)gaG>gaA		Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.							59	64	62					3																	127379384		2203	4300	6503	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379384G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.513G>A	3.37:g.127379384G>A			Somatic					p.E171E	NM_015720	NP_056535	WXS	Illumina GAIIx	Phase_I	Q9NZ53	PDXL2_HUMAN			2	537	+			171			Glu-rich.		Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.513G>A	CCDS3044.1																																																																																				0.557	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		3	71	0	0	0	1	0	3	71					A	127379384	G	A	127379384	2	1	387	1	0	0	0	0	0	0	0	1	12181	991	35	2		2	PODXL2	3	127379384	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	7916517	127379384	70643046	5	6617											
SEC61A1	29927	broad.mit.edu	37	3	127779461	127779461	+	Silent	SNP	C	C	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127779461C>A	ENST00000243253.3	+	7	757	c.573C>A	c.(571-573)atC>atA	p.I191I	SEC61A1_ENST00000464451.1_Silent_p.I197I|SEC61A1_ENST00000424880.2_Silent_p.I71I	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	191					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GTGAAACCATCGTATGGAAGG	0.478																																						uc003ekb.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(571-573)atC>atA		Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.							119	105	110					3																	127779461		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127779461C>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.573C>A	3.37:g.127779461C>A			Somatic				SEC61A1_uc003ekc.3_Silent_p.I138I|SEC61A1_uc003ekd.3_Silent_p.I71I	p.I191I	NM_013336	NP_037468	WXS	Illumina GAIIx	Phase_I	P61619	S61A1_HUMAN			6	757	+			191					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.573C>A	CCDS3046.1																																																																																				0.478	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		3	58	0	0	0	1	0	3	58					A	127779461	C	A	127779461	2	1	387	1	0	0	0	0	0	0	0	1	14000	874	31	4		4	SEC61A1	3	127779461	Silent	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	400077	127779461	70242969	6	6618											
SOX14	8403	broad.mit.edu	37	3	137484265	137484265	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:137484265G>A	ENST00000306087.1	+	1	687	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	213					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						CCACCCTGCAGCCCCCCGTCG	0.657																																						uc003erm.2																			0				large_intestine(2)|lung(12)	14						c.(637-639)caG>caA		Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.							44	33	37					3																	137484265		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.chr3:137484265G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.639G>A	3.37:g.137484265G>A			Somatic					p.Q213Q	NM_004189	NP_004180	WXS	Illumina GAIIx	Phase_I	O95416	SOX14_HUMAN			0	1132	+			213					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.639G>A	CCDS3094.1																																																																																				0.657	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		4	72	0	0	0	1	0	4	72					A	137484265	G	A	137484265	2	1	387	1	0	0	0	0	0	0	0	1	14945	962	34	2		2	SOX14	3	137484265	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	9704804	137484265	60538165	7	6619											
BDH1	622	broad.mit.edu	37	3	197238954	197238954	+	Missense_Mutation	SNP	C	C	T	rs145598252		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:197238954C>T	ENST00000392378.2	-	7	1154	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	BDH1_ENST00000358186.2_Missense_Mutation_p.A282T|BDH1_ENST00000392379.1_Missense_Mutation_p.A282T|BDH1_ENST00000441275.1_Missense_Mutation_p.A195T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	282					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TCCATCTTGGCGATCTTTTCA	0.582																																						uc003fxr.3																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(844-846)Gcc>Acc		Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	NADH(DB00157)	C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	187	157	167		844,844,844	2.9	0.2	3	dbSNP_134	167	0,8600		0,0,4300	no	missense,missense,missense	BDH1	NM_004051.4,NM_203314.2,NM_203315.2	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	282/344,282/344,282/344	197238954	1,13005	2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238954C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.844G>A	3.37:g.197238954C>T	ENSP00000376183:p.Ala282Thr		Somatic				BDH1_uc003fxs.3_Missense_Mutation_p.A282T|BDH1_uc003fxu.3_Missense_Mutation_p.A282T	p.A282T	NM_203314	NP_976060	WXS	Illumina GAIIx	Phase_I	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	1246	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	282					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.844G>A	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983110	0.34942	2.27E-4	0.0	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.85	2.87	0.33458	NAD(P)-binding domain (1);	0.257583	0.43919	D	0.000507	D	0.87799	0.6268	L	0.42744	1.35	0.42674	D	0.993522	B	0.25809	0.135	B	0.17098	0.017	T	0.81486	-0.0911	10	0.17369	T	0.5	.	10.7729	0.46334	0.2568:0.6185:0.1247:0.0	.	282	Q02338	BDH_HUMAN	T	282;282;282;195	ENSP00000376183:A282T;ENSP00000350914:A282T;ENSP00000376184:A282T;ENSP00000411014:A195T	ENSP00000350914:A282T	A	-	1	0	BDH1	198723351	1.000000	0.71417	0.163000	0.22734	0.690000	0.40134	1.575000	0.36493	0.890000	0.36211	0.655000	0.94253	GCC		0.582	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		71	107	0	0	0	1	0	71	107					T	197238954	C	T	197238954	3	4	387	1	0	0	0	0	1	0	0	0	1390	768	27	1	191	1	BDH1	3	197238954	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	59754689	197238954	783476	8	6620											
KIAA1244	57221	broad.mit.edu	37	6	138584107	138584107	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:138584107G>A	ENST00000251691.4	+	12	1653	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		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)		TGGGAGTCAGGGAACGAGAGG	0.592																																						uc003qhu.3																			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.(1486-1488)gGg>gAg		Homo sapiens KIAA1244 (KIAA1244), mRNA.							51	39	43					6																	138584107		2203	4299	6502	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584107G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1487G>A	6.37:g.138584107G>A	ENSP00000251691:p.Gly496Glu		Somatic					p.G496E	NM_020340	NP_065073	WXS	Illumina GAIIx	Phase_I	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	11	1658	+	Breast(32;0.135)		496						Missense_Mutation	SNP	ENST00000251691.4	37	c.1487G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039478	0.19669	.	.	ENSG00000112379	ENST00000251691	T	0.20200	2.09	5.52	4.65	0.58169	.	0.640740	0.14684	N	0.304577	T	0.07593	0.0191	N	0.24115	0.695	0.35554	D	0.804136	P	0.35077	0.483	B	0.33339	0.162	T	0.11891	-1.0569	10	0.52906	T	0.07	-23.692	14.0705	0.64856	0.0723:0.0:0.9277:0.0	.	496	Q5TH69	BIG3_HUMAN	E	496	ENSP00000251691:G496E	ENSP00000251691:G496E	G	+	2	0	KIAA1244	138625800	0.992000	0.36948	0.032000	0.17829	0.472000	0.32918	4.378000	0.59568	1.323000	0.45263	0.655000	0.94253	GGG		0.592	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		3	3	0	0	0	1	0	3	3					A	138584107	G	A	138584107	3	1	387	1	0	0	0	0	1	0	0	0	8217	1232	43	2	1533	2	KIAA1244	6	138584107	Missense_Mutation	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		138584107	32530960	9	6621											
UTRN	7402	broad.mit.edu	37	6	145021242	145021242	+	Missense_Mutation	SNP	G	G	T	rs374209033		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:145021242G>T	ENST00000367545.3	+	52	7672	c.7672G>T	c.(7672-7674)Gct>Tct	p.A2558S	UTRN_ENST00000367526.4_Missense_Mutation_p.A113S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2558					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)		GGAGGCCAGCGCTGAGAAGTG	0.373																																						uc003qkt.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.(7672-7674)Gct>Tct		Homo sapiens utrophin (UTRN), mRNA.							74	74	74					6																	145021242		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.chr6:145021242G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7672G>T	6.37:g.145021242G>T	ENSP00000356515:p.Ala2558Ser		Somatic					p.A2558S	NM_007124	NP_009055	WXS	Illumina GAIIx	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	51	7764	+		Ovarian(120;0.218)	2558					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7672G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265518	0.23136	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.34472	1.36;1.36	5.64	5.64	0.86602	.	0.000000	0.46758	D	0.000270	T	0.12008	0.0292	N	0.24115	0.695	0.51012	D	0.999905	B	0.15141	0.012	B	0.12156	0.007	T	0.15065	-1.0450	10	0.02654	T	1	.	19.7186	0.96134	0.0:0.0:1.0:0.0	.	2558	P46939	UTRO_HUMAN	S	2558;113	ENSP00000356515:A2558S;ENSP00000356496:A113S	ENSP00000356496:A113S	A	+	1	0	UTRN	145062935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.333000	0.79214	2.659000	0.90383	0.655000	0.94253	GCT		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	54	0	0	0	1	0	3	54					T	145021242	G	T	145021242	3	4	387	1	0	0	0	0	1	0	0	0	17100	1087	38	4	7878	4	UTRN	6	145021242	Missense_Mutation	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	6437135	145021242	26093825	10	6622											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	44	0	0	0	1	0	26	44					T	140453136	A	T	140453136	3	4	387	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		140453136	18685527	11	6623											
OR52N2	390077	broad.mit.edu	37	11	5841775	5841775	+	Missense_Mutation	SNP	C	C	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5841775C>G	ENST00000317037.2	+	1	232	c.210C>G	c.(208-210)ttC>ttG	p.F70L	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F70F(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCTCCTTCACTGATGTCA	0.537																																						uc010qzp.2																			1	Substitution - coding silent(1)	p.F70F(2)	skin(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(208-210)ttC>ttG		Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.							167	144	152					11																	5841775		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841775C>G	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.210C>G	11.37:g.5841775C>G	ENSP00000322801:p.Phe70Leu		Somatic				TRIM5_uc001mbq.1_Intron	p.F70L	NM_001005174	NP_001005174	WXS	Illumina GAIIx	Phase_I	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	210	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	70					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.210C>G	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153846	0.01700	.	.	ENSG00000180988	ENST00000317037	T	0.00966	5.49	5.91	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.193930	0.37261	N	0.002174	T	0.00608	0.0020	N	0.13198	0.31	0.22292	N	0.999226	B	0.06786	0.001	B	0.08055	0.003	T	0.48980	-0.8986	10	0.02654	T	1	.	9.7411	0.40418	0.0:0.7204:0.0:0.2796	.	70	Q8NGI0	O52N2_HUMAN	L	70	ENSP00000322801:F70L	ENSP00000322801:F70L	F	+	3	2	OR52N2	5798351	0.000000	0.05858	0.367000	0.25926	0.566000	0.35808	0.206000	0.17375	0.136000	0.18733	0.655000	0.94253	TTC		0.537	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		3	203	0	0	0	1	0	3	203					G	5841775	C	G	5841775	3	3	387	1	0	0	0	0	1	0	0	0	11128	825	29	4	212	4	OR52N2	11	5841775	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		5841775	129164741	12	6624											
OR56A5	0	broad.mit.edu	37	11	5989487	5989487	+	IGR	SNP	C	C	T			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5989487C>T								OR56A3 (19896 upstream) : OR52L1 (17634 downstream)																							TTGGGGATGACGGTGAGGCAG	0.532																																						uc010qzu.2																			0											c.(238-240)Gtc>Atc		Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.							75	73	73					11																	5989487		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989487C>T																													11.37:g.5989487C>T			Somatic					p.V80I	NM_001146033	NP_001139505	WXS	Illumina GAIIx	Phase_I	P0C7T3	O56A5_HUMAN			0	238	-			80						Missense_Mutation	SNP		37	c.238G>A																																																																																				0	0.532									40	72	0	0	0	1	0	40	72					T	5989487	C	T	5989487	1	4	387	0	1	0	0	0	0	0	0	0	11136	536	19	1		1	OR56A5	11	5989487	IGR	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	147712	5989487	129017029	13	6625											
TAS2R46	259292	broad.mit.edu	37	12	11214130	11214130	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:11214130A>G	ENST00000533467.1	-	1	763	c.764T>C	c.(763-765)cTg>cCg	p.L255P	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	255					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGTTTTCCAGACTCTCAAA	0.418																																						uc001qzp.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(763-765)cTg>cCg		Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.							183	193	189					12																	11214130		2202	4300	6502	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214130A>G	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.764T>C	12.37:g.11214130A>G	ENSP00000436450:p.Leu255Pro		Somatic				PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.L255P	NM_176887	NP_795368	WXS	Illumina GAIIx	Phase_I	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	0	764	-			255					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.764T>C	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	A	6.503	0.460981	0.12342	.	.	ENSG00000226761	ENST00000533467	T	0.00682	5.86	2.54	2.54	0.30619	.	.	.	.	.	T	0.00906	0.0030	L	0.37897	1.145	0.21020	N	0.999804	B	0.12630	0.006	B	0.20577	0.03	T	0.44050	-0.9353	9	0.37606	T	0.19	.	8.5848	0.33651	1.0:0.0:0.0:0.0	.	255	P59540	T2R46_HUMAN	P	255	ENSP00000436450:L255P	ENSP00000436450:L255P	L	-	2	0	TAS2R46	11105397	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.344000	0.07780	1.181000	0.42912	0.163000	0.16589	CTG		0.418	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		6	122	0	0	0	1	0	6	122					G	11214130	A	G	11214130	3	3	387	1	0	0	0	0	1	0	0	0	15579	188	7	3	169	3	TAS2R46	12	11214130	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		11214130	122637765	14	6626											
DTX1	1840	broad.mit.edu	37	12	113533162	113533162	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:113533162C>A	ENST00000257600.3	+	8	2084	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	527					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAAGAAGTTCACCGCAAGAG	0.597																																						uc001tuk.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1579-1581)ttC>ttA		Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.							73	77	76					12																	113533162		2203	4300	6503	SO:0001583	missense	1840				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113533162C>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1581C>A	12.37:g.113533162C>A	ENSP00000257600:p.Phe527Leu		Somatic					p.F527L	NM_004416	NP_004407	WXS	Illumina GAIIx	Phase_I	Q86Y01	DTX1_HUMAN			7	1917	+			527					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1581C>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817464	0.70912	.	.	ENSG00000135144	ENST00000257600	T	0.54866	0.55	4.66	3.76	0.43208	.	0.056522	0.64402	D	0.000001	T	0.60907	0.2305	M	0.88906	2.99	0.52099	D	0.999948	B	0.32939	0.391	B	0.38954	0.286	T	0.64188	-0.6466	10	0.87932	D	0	-0.564	8.549	0.33440	0.0:0.8152:0.0:0.1848	.	527	Q86Y01	DTX1_HUMAN	L	527	ENSP00000257600:F527L	ENSP00000257600:F527L	F	+	3	2	DTX1	112017545	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	3.720000	0.54933	0.922000	0.37019	0.561000	0.74099	TTC		0.597	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			5	173	0	0	0	1	0	5	173					A	113533162	C	A	113533162	3	1	387	1	0	0	0	0	1	0	0	0	4793	825	29	4	1611	4	DTX1	12	113533162	Missense_Mutation	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08	102319032	113533162	20318733	15	6627											
ULK3	25989	broad.mit.edu	37	15	75134762	75134762	+	Splice_Site	SNP	C	C	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr15:75134762C>G	ENST00000440863.2	-	2	194		c.e2-1		ULK3_ENST00000568667.1_Splice_Site|ULK3_ENST00000569437.1_Splice_Site	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAGTGTCCTTCTGCGAGACAG	0.557																																						uc010ulq.1																			0				breast(2)	2						c.e2-1		Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.							187	184	185					15																	75134762		1967	4153	6120	SO:0001630	splice_region_variant	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134762C>G	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.103-1G>C	15.37:g.75134762C>G			Somatic				ULK3_uc010ulp.1_Splice_Site|ULK3_uc010ulr.1_Splice_Site|ULK3_uc010bkf.1_Splice_Site_p.K35_splice|ULK3_uc002ayv.2_Splice_Site_p.K35_splice|ULK3_uc010uls.1_Splice_Site|ULK3_uc010ult.1_Splice_Site|ULK3_uc010ulu.1_Splice_Site	p.K46_splice	NM_001099436	NP_001092906	WXS	Illumina GAIIx	Phase_I	Q6PHR2	ULK3_HUMAN			2	139	-			35			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Splice_Site	SNP	ENST00000440863.2	37	c.136_splice	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333494	0.60853	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0888	0.86617	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK3	72921815	1.000000	0.71417	0.994000	0.49952	0.611000	0.37282	7.270000	0.78493	2.378000	0.81104	0.655000	0.94253	.		0.557	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518	Intron	65	168	0	0	0	1	0	65	168					G	75134762	C	G	75134762	5	3	387	1	0	0	0	0	0	0	1	0	16974	927	32	4	1376	4	ULK3	15	75134762	Splice_Site	SNP	C	TCGA-J8-A3NZ-01A-11D-A21A-08		75134762	27396630	16	6628											
LRRC36	55282	broad.mit.edu	37	16	67401213	67401213	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr16:67401213A>G	ENST00000329956.6	+	8	1067	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	LRRC36_ENST00000563189.1_Missense_Mutation_p.R229G|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229G|LRRC36_ENST00000290940.7_Missense_Mutation_p.R82G	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTGGTAAAAGGCCTCAGAG	0.403																																						uc002esv.3																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1048-1050)Agg>Ggg		Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.							179	183	182					16																	67401213		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67401213A>G	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1048A>G	16.37:g.67401213A>G	ENSP00000329943:p.Arg350Gly		Somatic				LRRC36_uc002esw.3_Intron|LRRC36_uc010ceh.3_Intron|LRRC36_uc002esx.3_Missense_Mutation_p.R229G|LRRC36_uc010vjk.2_Missense_Mutation_p.R229G|LRRC36_uc010vjl.2_Intron	p.R350G	NM_018296	NP_060766	WXS	Illumina GAIIx	Phase_I	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	7	1067	+		Ovarian(137;0.192)	350					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1048A>G	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.386409	0.61956	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.55588	2.82;0.51;1.1	6.17	6.17	0.99709	.	0.612512	0.17516	N	0.171423	T	0.55529	0.1926	L	0.50333	1.59	0.80722	D	1	P;P;P	0.46142	0.873;0.873;0.763	P;P;B	0.47346	0.544;0.466;0.288	T	0.56547	-0.7961	10	0.54805	T	0.06	-5.5187	13.214	0.59844	1.0:0.0:0.0:0.0	.	229;229;350	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	G	350;82;229	ENSP00000329943:R350G;ENSP00000290940:R82G;ENSP00000411122:R229G	ENSP00000290940:R82G	R	+	1	2	LRRC36	65958714	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.891000	0.63185	2.371000	0.80710	0.533000	0.62120	AGG		0.403	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		3	122	0	0	0	1	0	3	122					G	67401213	A	G	67401213	3	3	387	1	0	0	0	0	1	0	0	0	8990	63	3	3	1106	3	LRRC36	16	67401213	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08		67401213	22953540	17	6629											
HAP1	9001	broad.mit.edu	37	17	39888235	39888237	+	In_Frame_Del	DEL	CTT	CTT	-	rs150945451	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr17:39888235_39888237delCTT	ENST00000310778.5	-	4	857_859	c.848_850delAAG	c.(847-852)gaagca>gca	p.E283del	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_In_Frame_Del_p.E283del|HAP1_ENST00000341193.5_In_Frame_Del_p.E291del|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_In_Frame_Del_p.E283del			P54257	HAP1_HUMAN	huntingtin-associated protein 1	283	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			tcttcctctgcttcttcttcttc	0.507																																						uc002hxm.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(847-852)gaagca>gca		Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.			,,	1,4253		0,1,2126					,,	-0.5	0.0			191	11,8241		0,11,4115	no	coding,coding,coding	HAP1	NM_177977.2,NM_001079871.1,NM_001079870.1	,,	0,12,6241	A1A1,A1R,RR		0.1333,0.0235,0.096	,,	,,		12,12494				SO:0001651	inframe_deletion	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39888235_39888237delCTT	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.848_850delAAG	17.37:g.39888244_39888246delCTT	ENSP00000309392:p.Glu283del		Somatic				JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_In_Frame_Del_p.E283del|HAP1_uc002hxo.1_In_Frame_Del_p.E291del|HAP1_uc002hxp.1_In_Frame_Del_p.E283del	p.E283del	NM_177977	NP_817084	WXS	Illumina GAIIx	Phase_I	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	860_862	-		Breast(137;0.000162)	283			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	In_Frame_Del	DEL	ENST00000310778.5	37	c.848_850delAAG																																																																																					0.507	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		2	4						2	4	---	---	---	---	-	39888237	CTT	-	39888235	7	5	387	1	0	1	0	1	0	0	0	0	6953	797	28	0	1041	0	HAP1	17	39888235	In_Frame_Del	DEL	CTT	TCGA-J8-A3NZ-01A-11D-A21A-08		39888235	41306975	18	6630											
RAVER1	125950	broad.mit.edu	37	19	10431412	10431412	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:10431412G>A	ENST00000293677.6	-	9	1821	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGAGCAGGCGGGACTTGAGCT	0.697																																						uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1738-1740)tcC>tcT		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							4	5	5					19																	10431412		1887	4004	5891	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding	g.chr19:10431412G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1740C>T	19.37:g.10431412G>A			Somatic				RAVER1_uc002mnz.3_5'Flank	p.S580S	NM_133452	NP_597709	WXS	Illumina GAIIx	Phase_I	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		8	1820	-			433					A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.1740C>T	CCDS45960.1																																																																																				0.697	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		3	19	0	0	0	1	0	3	19					A	10431412	G	A	10431412	2	1	387	1	0	0	0	0	0	0	0	1	13094	1219	43	2		2	RAVER1	19	10431412	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		10431412	48697571	19	6631											
BCAM	4059	broad.mit.edu	37	19	45317503	45317503	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:45317503G>A	ENST00000270233.6	+	7	901	c.879G>A	c.(877-879)ggG>ggA	p.G293G	BCAM_ENST00000589651.1_Silent_p.G293G	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	293	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCTGCCGGGGGGACGGCAGCC	0.672																																						uc002ozu.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(877-879)ggG>ggA		Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.							48	48	48					19																	45317503		2203	4299	6502	SO:0001819	synonymous_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45317503G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.879G>A	19.37:g.45317503G>A			Somatic				BCAM_uc002ozt.1_Silent_p.G293G	p.G293G	NM_005581	NP_005572	WXS	Illumina GAIIx	Phase_I	P50895	BCAM_HUMAN			6	923	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	293			Ig-like C2-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	c.879G>A	CCDS12644.1																																																																																				0.672	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		83	82	0	0	0	1	0	83	82					A	45317503	G	A	45317503	2	1	387	1	0	0	0	0	0	0	0	1	1344	1219	43	2		2	BCAM	19	45317503	Silent	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08	34886091	45317503	13811480	20	6632											
ABCB7	22	broad.mit.edu	37	X	74296488	74296488	+	Splice_Site	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:74296488G>A	ENST00000373394.3	-	5	462	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ABCB7_ENST00000339447.4_Splice_Site_p.A112V|ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000253577.3_Splice_Site_p.A153V			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	152	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AATATTCATGGCCTAAAAACA	0.318																																						uc004ebz.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.e5-1		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.							84	65	71					X																	74296488		2203	4300	6503	SO:0001630	splice_region_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74296488G>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.454-1C>T	X.37:g.74296488G>A			Somatic				ABCB7_uc010nlt.3_Splice_Site_p.A112_splice|ABCB7_uc004eca.3_Splice_Site_p.A152_splice|ABCB7_uc011mqn.2_Splice_Site_p.A126_splice|ABCB7_uc010nls.3_Splice_Site_p.A113_splice	p.A153_splice	NM_004299	NP_004290	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			5	482	-			152			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Splice_Site	SNP	ENST00000373394.3	37	c.457_splice		.	.	.	.	.	.	.	.	.	.	G	5.433	0.265057	0.10294	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D;D	0.91521	-2.49;-2.49;-2.49;-2.49;-2.86	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);	0.306560	0.37012	N	0.002282	T	0.68449	0.3002	N	0.00436	-1.5	0.39211	D	0.96331	B;B;B;B;B	0.15141	0.002;0.012;0.003;0.003;0.002	B;B;B;B;B	0.20184	0.016;0.012;0.028;0.028;0.016	T	0.71133	-0.4681	10	0.02654	T	1	-5.7904	12.8977	0.58109	0.0:0.1586:0.8414:0.0	.	126;112;153;152;153	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	V	126;153;112;152;126;97;165	ENSP00000253577:A153V;ENSP00000343849:A112V;ENSP00000362492:A152V;ENSP00000436586:A126V;ENSP00000435521:A97V	ENSP00000253577:A153V	A	-	2	0	ABCB7	74213213	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.129000	0.50500	2.252000	0.74401	0.544000	0.68410	GCC		0.318	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	Missense_Mutation	3	35	0	0	0	1	0	3	35					A	74296488	G	A	74296488	5	1	387	1	0	0	0	0	0	0	1	0	46	1217	42	2	1851	2	ABCB7	23	74296488	Splice_Site	SNP	G	TCGA-J8-A3NZ-01A-11D-A21A-08		74296488	80974072	21	6633											
DCX	1641	broad.mit.edu	37	X	110654079	110654079	+	Missense_Mutation	SNP	A	A	C			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:110654079A>C	ENST00000338081.3	-	1	295	c.124T>G	c.(124-126)Tca>Gca	p.S42A	DCX_ENST00000488120.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	42					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTTGTAAATGAATCCATAGCC	0.423																																						uc011msv.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(124-126)Tca>Gca		Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.							209	183	192					X																	110654079		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110654079A>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.124T>G	X.37:g.110654079A>C	ENSP00000337697:p.Ser42Ala		Somatic				DCX_uc004epd.3_Missense_Mutation_p.S42A|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	p.S42A	NM_178152	NP_835365	WXS	Illumina GAIIx	Phase_I	O43602	DCX_HUMAN			0	296	-			42					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.124T>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.98|11.98	1.801176|1.801176	0.31869|0.31869	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000338081	.|T	.|0.26223	.|1.75	4.4|4.4	3.23|3.23	0.37069|0.37069	.|.	.|0.241990	.|0.21715	.|N	.|0.070201	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16802	.|0.019;0.019	.|B;B	.|0.17098	.|0.017;0.017	T|T	0.06092|0.06092	-1.0846|-1.0846	5|10	.|0.87932	.|D	.|0	.|.	8.229|8.229	0.31587|0.31587	0.9056:0.0:0.0944:0.0|0.9056:0.0:0.0944:0.0	.|.	.|30;42	.|B4DM53;O43602	.|.;DCX_HUMAN	M|A	33|42	.|ENSP00000337697:S42A	.|ENSP00000337697:S42A	I|S	-|-	3|1	3|0	DCX|DCX	110540735|110540735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.812000|3.812000	0.55628|0.55628	0.812000|0.812000	0.34326|0.34326	0.411000|0.411000	0.27672|0.27672	ATT|TCA		0.423	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		7	174	0	0	0	1	0	7	174					C	110654079	A	C	110654079	3	2	387	1	0	0	0	0	1	0	0	0	4318	246	9	5	1244	5	DCX	23	110654079	Missense_Mutation	SNP	A	TCGA-J8-A3NZ-01A-11D-A21A-08	36357591	110654079	44616481	22	6634											
DNAJC11	55735	broad.mit.edu	37	1	6696245	6696245	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:6696245T>C	ENST00000377577.5	-	15	1709	c.1586A>G	c.(1585-1587)tAt>tGt	p.Y529C	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Missense_Mutation_p.Y439C|DNAJC11_ENST00000294401.7_Missense_Mutation_p.Y477C|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.Y491C	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	529						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGAACTGATAGAGCACTTT	0.547																																						uc001aof.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1585-1587)tAt>tGt		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.							89	78	82					1																	6696245		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6696245T>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1586A>G	1.37:g.6696245T>C	ENSP00000366800:p.Tyr529Cys		Somatic				DNAJC11_uc001aog.2_Missense_Mutation_p.Y477C|DNAJC11_uc010nzu.1_Missense_Mutation_p.Y439C	p.Y529C	NM_018198	NP_060668	WXS	Illumina GAIIx	Phase_I	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1692	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	529					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1586A>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401009	0.83120	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.70869	0.2;0.2;-0.04;-0.52	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	H	0.95114	3.625	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	0.91921	0.5547	10	0.87932	D	0	-18.2713	14.8449	0.70254	0.0:0.0:0.0:1.0	.	439;477;529	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	C	529;477;491;439	ENSP00000366800:Y529C;ENSP00000294401:Y477C;ENSP00000444020:Y491C;ENSP00000366796:Y439C	ENSP00000294401:Y477C	Y	-	2	0	DNAJC11	6618832	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.502000	0.81614	2.095000	0.63458	0.533000	0.62120	TAT		0.547	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		22	55	0	0	0	1	0	22	55					C	6696245	T	C	6696245	3	2	388	1	0	0	0	0	1	0	0	0	4630	1406	49	3	101	3	DNAJC11	1	6696245	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		6696245	242554376	1	6635											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		62	78	0	0	0	1	0	62	78					C	115256529	T	C	115256529	3	2	388	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08	108560284	115256529	133994092	2	6636											
NBPF14	25832	broad.mit.edu	37	1	148012561	148012562	+	Frame_Shift_Del	DEL	AT	AT	-	rs587658653	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr1:148012561_148012562delAT	ENST00000369219.1	-	12	1413_1414	c.1397_1398delAT	c.(1396-1398)tatfs	p.Y466fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	466	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGGAACTTCCATAGGGCTGGCA	0.47																																						uc001eqq.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1396-1398)tatfs		Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.																																				SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148012561_148012562delAT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1397_1398delAT	1.37:g.148012561_148012562delAT	ENSP00000358221:p.Tyr466fs		Somatic				NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc021owc.1_Frame_Shift_Del_p.Y133fs|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Frame_Shift_Del_p.Y621fs|NBPF14_uc021owh.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron	p.Y466fs	NM_015383	NP_056198	WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			11	1429_1430	-	all_hematologic(923;0.032)		466			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Del	DEL	ENST00000369219.1	37	c.1397_1398delAT																																																																																					0.47	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		2	4						2	4	---	---	---	---	-	148012562	AT	-	148012561	7	5	388	1	0	1	0	1	0	0	0	0	10194	224	8	0	1411	0	NBPF14	1	148012561	Frame_Shift_Del	DEL	AT	TCGA-J8-A3O0-01A-11D-A21A-08	32756032	148012561	101238060	3	6637											
FN1	2335	broad.mit.edu	37	2	216285470	216285470	+	Missense_Mutation	SNP	C	C	G	rs142165052	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr2:216285470C>G	ENST00000359671.1	-	11	1866	c.1601G>C	c.(1600-1602)cGt>cCt	p.R534P	FN1_ENST00000357009.2_Missense_Mutation_p.R534P|FN1_ENST00000421182.1_Missense_Mutation_p.R534P|FN1_ENST00000345488.5_Missense_Mutation_p.R534P|FN1_ENST00000357867.4_Missense_Mutation_p.R534P|FN1_ENST00000446046.1_Missense_Mutation_p.R534P|FN1_ENST00000443816.1_Missense_Mutation_p.R534P|FN1_ENST00000356005.4_Missense_Mutation_p.R534P|FN1_ENST00000354785.4_Missense_Mutation_p.R534P|FN1_ENST00000323926.6_Missense_Mutation_p.R534P|FN1_ENST00000432072.2_Missense_Mutation_p.R534P|FN1_ENST00000426059.1_Missense_Mutation_p.R534P|FN1_ENST00000336916.4_Missense_Mutation_p.R534P|FN1_ENST00000346544.3_Missense_Mutation_p.R534P			P02751	FINC_HUMAN	fibronectin 1	534	Collagen-binding.|Fibronectin type-I 8. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTCTTCATGACGCTTGTGGAA	0.478																																						uc002vfa.3																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1600-1602)cGt>cCt		Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						192	150	164					2																	216285470		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216285470C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1601G>C	2.37:g.216285470C>G	ENSP00000352696:p.Arg534Pro		Somatic				FN1_uc002vfc.3_Missense_Mutation_p.R534P|FN1_uc002vfe.3_Missense_Mutation_p.R534P|FN1_uc002vff.3_Missense_Mutation_p.R534P|FN1_uc002vfg.3_Missense_Mutation_p.R534P|FN1_uc002vfh.3_Missense_Mutation_p.R534P|FN1_uc002vfi.3_Missense_Mutation_p.R534P|FN1_uc002vfj.3_Missense_Mutation_p.R534P|FN1_uc002vfb.3_Missense_Mutation_p.R534P|FN1_uc002vfl.3_Missense_Mutation_p.R534P	p.R534P	NM_212482	NP_997647	WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	10	1867	-		Renal(323;0.127)	534			Collagen-binding.|Fibronectin type-I 8.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1601G>C		.	.	.	.	.	.	.	.	.	.	C	35	5.415201	0.96092	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.59824	0.2222	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.999;0.997;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	0.99;0.999;0.99;0.952;1.0;1.0;0.995;0.999;1.0;1.0;0.999	T	0.60042	-0.7340	10	0.87932	D	0	.	19.9225	0.97093	0.0:1.0:0.0:0.0	.	534;534;534;534;534;534;534;534;534;534;534	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	P	534	ENSP00000394423:R534P;ENSP00000323534:R534P;ENSP00000338200:R534P;ENSP00000350534:R534P;ENSP00000346839:R534P;ENSP00000352696:R534P;ENSP00000265312:R534P;ENSP00000273049:R534P;ENSP00000349509:R534P;ENSP00000410422:R534P;ENSP00000415018:R534P;ENSP00000399538:R534P;ENSP00000348285:R534P;ENSP00000398907:R534P	ENSP00000265313:R534P	R	-	2	0	FN1	215993715	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	CGT		0.478	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		23	46	0	0	0	1	0	23	46					G	216285470	C	G	216285470	3	3	388	1	0	0	0	0	1	0	0	0	5962	536	19	4	6009	4	FN1	2	216285470	Missense_Mutation	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		216285470	26913903	4	6638											
FANCD2	2177	broad.mit.edu	37	3	10106101	10106101	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr3:10106101T>C	ENST00000419585.1	+	22	2170	c.2009T>C	c.(2008-2010)gTt>gCt	p.V670A	FANCD2_ENST00000383806.1_Missense_Mutation_p.V670A|FANCD2_ENST00000383807.1_Missense_Mutation_p.V670A|FANCD2_ENST00000287647.3_Missense_Mutation_p.V670A			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	670					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)		GACTCCTGTGTTGTTCCGGAA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			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.(2008-2010)gTt>gCt	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.							257	236	243					3																	10106101		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10106101T>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2009T>C	3.37:g.10106101T>C	ENSP00000398754:p.Val670Ala		Somatic				FANCD2_uc003bux.1_Missense_Mutation_p.V670A|FANCD2_uc003buy.1_Missense_Mutation_p.V670A|FANCD2_uc010hcw.1_Non-coding_Transcript	p.V670A	NM_033084	NP_149075	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	21	2087	+			670					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2009T>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	4.641	0.119185	0.08881	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.58	-11.2	0.00127	.	0.581511	0.19588	N	0.110684	T	0.13415	0.0325	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.18808	-1.0325	10	0.09590	T	0.72	.	14.2209	0.65826	0.2175:0.7014:0.0:0.0811	.	670;670	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	A	670	ENSP00000287647:V670A;ENSP00000373318:V670A;ENSP00000373317:V670A;ENSP00000398754:V670A	ENSP00000287647:V670A	V	+	2	0	FANCD2	10081101	0.000000	0.05858	0.000000	0.03702	0.742000	0.42306	-1.757000	0.01811	-2.571000	0.00468	0.477000	0.44152	GTT		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			28	68	0	0	0	1	0	28	68					C	10106101	T	C	10106101	3	2	388	1	0	0	0	0	1	0	0	0	5665	1725	60	3	2091	3	FANCD2	3	10106101	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		10106101	187916329	5	6639											
BMP3	651	broad.mit.edu	37	4	81952594	81952594	+	Silent	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr4:81952594G>A	ENST00000282701.2	+	1	476	c.156G>A	c.(154-156)ccG>ccA	p.P52P		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	52					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCTGCAGCCGCAAGACAAGG	0.672																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(154-156)ccG>ccA		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.							29	32	31					4																	81952594		2203	4298	6501	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952594G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.156G>A	4.37:g.81952594G>A			Somatic					p.P52P	NM_001201	NP_001192	WXS	Illumina GAIIx	Phase_I	P12645	BMP3_HUMAN			0	476	+			52					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.156G>A	CCDS3588.1																																																																																				0.672	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			3	44	0	0	0	1	0	3	44					A	81952594	G	A	81952594	2	1	388	1	0	0	0	0	0	0	0	1	1461	1074	38	1		1	BMP3	4	81952594	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08		81952594	109201682	6	6640											
SAAL1	113174	broad.mit.edu	37	11	18111042	18111042	+	Missense_Mutation	SNP	T	T	G			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:18111042T>G	ENST00000524803.1	-	7	654	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.K202T|SAAL1_ENST00000529318.1_Missense_Mutation_p.K202T			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	202										breast(2)|large_intestine(5)|lung(8)	15						CTCCCCCACCTTCACCAGCAA	0.418																																						uc001mnq.3																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(604-606)aAg>aCg		Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.							68	64	66					11																	18111042		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18111042T>G	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.605A>C	11.37:g.18111042T>G	ENSP00000432487:p.Lys202Thr		Somatic				SAAL1_uc001mnr.3_Missense_Mutation_p.K202T	p.K202T	NM_138421	NP_612430	WXS	Illumina GAIIx	Phase_I	Q96ER3	SAAL1_HUMAN			6	655	-			202					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.605A>C	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945256	0.73672	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000529318;ENST00000530180	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.109289	0.64402	D	0.000005	T	0.54271	0.1848	M	0.66939	2.045	0.41074	D	0.985476	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.60236	0.871;0.871;0.871	T	0.57100	-0.7869	10	0.52906	T	0.07	-17.9516	14.3138	0.66434	0.0:0.0:0.0:1.0	.	202;202;202	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	T	202;202;39;91;202;191	ENSP00000432487:K202T;ENSP00000300013:K202T;ENSP00000432044:K39T;ENSP00000436031:K91T;ENSP00000432216:K202T;ENSP00000431489:K191T	ENSP00000300013:K202T	K	-	2	0	SAAL1	18067618	1.000000	0.71417	0.967000	0.41034	0.923000	0.55619	6.648000	0.74359	2.114000	0.64651	0.533000	0.62120	AAG		0.418	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		11	29	0	0	0	1	0	11	29					G	18111042	T	G	18111042	3	3	388	1	0	0	0	0	1	0	0	0	13801	1609	56	5	843	5	SAAL1	11	18111042	Missense_Mutation	SNP	T	TCGA-J8-A3O0-01A-11D-A21A-08		18111042	116895474	7	6641											
LTBP3	4054	broad.mit.edu	37	11	65319868	65319868	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr11:65319868G>A	ENST00000301873.5	-	7	1464	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	LTBP3_ENST00000322147.4_Missense_Mutation_p.P399L|LTBP3_ENST00000536982.1_Missense_Mutation_p.P25L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	399					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTTCTCCTCCGGTTTGTCTGC	0.667											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oej.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1195-1197)cCg>cTg		Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.							51	59	56					11																	65319868		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65319868G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1196C>T	11.37:g.65319868G>A	ENSP00000301873:p.Pro399Leu		Somatic	OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_uc010roi.2_Missense_Mutation_p.P282L|LTBP3_uc001oei.3_Missense_Mutation_p.P399L|LTBP3_uc010roj.2_Missense_Mutation_p.P100L|LTBP3_uc010rok.1_Missense_Mutation_p.P310L|U7_uc021qll.1_5'Flank	p.P399L	NM_001130144	NP_001123616	WXS	Illumina GAIIx	Phase_I	Q9NS15	LTBP3_HUMAN			6	1465	-			399					O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.1196C>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210295	0.79240	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000536982;ENST00000530866;ENST00000530426	D;D;D;T;T	0.93547	-3.24;-1.5;-3.24;-1.42;2.11	3.99	3.99	0.46301	Matrix fibril-associated (1);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	N	0.17278	0.47	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.99;0.996;0.99;0.987;0.999	P;P;B;B;P	0.59643	0.482;0.742;0.409;0.401;0.861	D	0.89448	0.3728	10	0.25106	T	0.35	.	13.6128	0.62091	0.0:0.0:1.0:0.0	.	310;25;282;399;399	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2	.;.;.;LTBP3_HUMAN;.	L	399;399;25;310;79	ENSP00000326647:P399L;ENSP00000301873:P399L;ENSP00000441912:P25L;ENSP00000435276:P310L;ENSP00000432476:P79L	ENSP00000301873:P399L	P	-	2	0	LTBP3	65076444	0.995000	0.38212	0.992000	0.48379	0.898000	0.52572	3.734000	0.55037	2.064000	0.61679	0.407000	0.27541	CCG		0.667	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		43	68	0	0	0	1	0	43	68					A	65319868	G	A	65319868	3	1	388	1	0	0	0	0	1	0	0	0	9075	1116	39	1	2803	1	LTBP3	11	65319868	Missense_Mutation	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08	47208826	65319868	69686648	8	6642											
HEXA	3073	broad.mit.edu	37	15	72640388	72640388	+	Splice_Site	SNP	C	C	T	rs76173977	byFrequency	TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr15:72640388C>T	ENST00000268097.5	-	9	1577		c.e9+1		HEXA_ENST00000566304.1_Splice_Site|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Splice_Site|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Splice_Site|HEXA_ENST00000429918.2_Splice_Site	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCCTTCCTCACGTCTGGATGT	0.577													C|||	2	0.000399361	0	0	5008	,	,		12621	0		0.002	False		,,,				2504	0					uc010ukn.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24	GRCh37	CS910444	HEXA	S	rs76173977	c.e9+1		Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.		C		0,4398		0,0,2199	60	60	60			5.6	1.0	15	dbSNP_132	60	4,8590	3.7+/-12.6	0,4,4293	yes	splice-5	HEXA	NM_000520.4		0,4,6492	TT,TC,CC		0.0465,0.0,0.0308			72640388	4,12988	2199	4297	6496	SO:0001630	splice_region_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72640388C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1073+1G>A	15.37:g.72640388C>T			Somatic				BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc002aun.4_Splice_Site_p.T358_splice|HEXA_uc010bix.3_Splice_Site_p.T358_splice|HEXA_uc010biy.2_Splice_Site_p.T221_splice|HEXA_uc010uko.1_Splice_Site_p.T184_splice	p.T369_splice	NM_000520	NP_000511	WXS	Illumina GAIIx	Phase_I	P06865	HEXA_HUMAN			9	1313	-			358					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Splice_Site	SNP	ENST00000268097.5	37	c.1106_splice	CCDS10243.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	27.0	4.795659	0.90453	0.0	4.65E-4	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6854	0.88255	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEXA	70427442	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.258000	0.78371	2.594000	0.87642	0.655000	0.94253	.		0.577	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	Intron	8	22	0	0	0	1	0	8	22					T	72640388	C	T	72640388	5	4	388	1	0	0	0	0	0	0	1	0	7073	550	19	1	539	1	HEXA	15	72640388	Splice_Site	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		72640388	29891004	9	6643											
OTOA	146183	broad.mit.edu	37	16	21726416	21726416	+	Silent	SNP	C	C	T			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:21726416C>T	ENST00000286149.4	+	13	1474	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	OTOA_ENST00000388958.3_Silent_p.A477A|OTOA_ENST00000388956.4_Silent_p.A398A|OTOA_ENST00000388957.3_Silent_p.A153A			Q7RTW8	OTOAN_HUMAN	otoancorin	491					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGAGAAGTGCCGTCTCCCAGT	0.577																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1429-1431)gcC>gcT		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							233	211	218					16																	21726416		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726416C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1473C>T	16.37:g.21726416C>T			Somatic				LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.A398A|OTOA_uc002dji.3_Silent_p.A153A|OTOA_uc010vbk.2_Silent_p.A125A	p.A477A	NM_144672	NP_653273	WXS	Illumina GAIIx	Phase_I	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1432	+			491					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.1431C>T																																																																																					0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			8	355	0	0	0	1	0	8	355					T	21726416	C	T	21726416	2	4	388	1	0	0	0	0	0	0	0	1	11302	639	23	1		1	OTOA	16	21726416	Silent	SNP	C	TCGA-J8-A3O0-01A-11D-A21A-08		21726416	68628337	10	6644											
SETD6	79918	broad.mit.edu	37	16	58549787	58549787	+	Silent	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr16:58549787G>A	ENST00000219315.4	+	2	170	c.120G>A	c.(118-120)gtG>gtA	p.V40V	SETD6_ENST00000418480.1_Intron|SETD6_ENST00000394266.4_Intron|SETD6_ENST00000310682.2_Intron			Q8TBK2	SETD6_HUMAN	SET domain containing 6	40					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GTCCCAAGGTGAGCGAGCGAg	0.756																																						uc002ens.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.(118-120)gtG>gtA		Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.							4	6	5					16																	58549787		2001	3990	5991	SO:0001819	synonymous_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58549787G>A	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.120G>A	16.37:g.58549787G>A			Somatic				SETD6_uc010cdl.2_Silent_p.V40V|SETD6_uc021tjh.1_Intron|SETD6_uc002enr.3_Intron|SETD6_uc010cdm.3_Intron|SETD6_uc010vij.1_Intron	p.V40V	NM_001160305	NP_001153777	WXS	Illumina GAIIx	Phase_I	Q8TBK2	SETD6_HUMAN			1	179	+			40			SET.		A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	c.120G>A	CCDS54013.1																																																																																				0.756	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		4	13	0	0	0	1	0	4	13					A	58549787	G	A	58549787	2	1	388	1	0	0	0	0	0	0	0	1	14135	1277	45	2		2	SETD6	16	58549787	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08	36823371	58549787	31804966	11	6645											
SERTAD3	29946	broad.mit.edu	37	19	40947564	40947564	+	Missense_Mutation	SNP	A	A	C			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chr19:40947564A>C	ENST00000322354.3	-	2	920	c.424T>G	c.(424-426)Ttg>Gtg	p.L142V	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Missense_Mutation_p.L142V	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	142					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTCCCCCAAGTACCGGGAG	0.572																																						uc002onu.4																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(424-426)Ttg>Gtg		Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.							71	76	74					19																	40947564		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947564A>C	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.424T>G	19.37:g.40947564A>C	ENSP00000325414:p.Leu142Val		Somatic				SERTAD3_uc002onv.4_Missense_Mutation_p.L142V|SERTAD3_uc021uut.1_Missense_Mutation_p.L142V	p.L142V	NM_013368	NP_976219	WXS	Illumina GAIIx	Phase_I	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		1	702	-			142					B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.424T>G	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016010	0.35606	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	-1.94	0.07571	.	0.000000	0.34628	N	0.003814	T	0.11110	0.0271	N	0.08118	0	0.25122	N	0.99064	P	0.43094	0.799	B	0.33339	0.162	T	0.32161	-0.9917	9	0.44086	T	0.13	0.2269	10.3001	0.43648	0.4986:0.0:0.5014:0.0	.	142	Q9UJW9	SRTD3_HUMAN	V	142	.	ENSP00000325414:L142V	L	-	1	2	SERTAD3	45639404	0.993000	0.37304	0.910000	0.35882	0.722000	0.41435	0.767000	0.26575	-0.102000	0.12197	-0.256000	0.11100	TTG		0.572	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		27	44	0	0	0	1	0	27	44					C	40947564	A	C	40947564	3	2	388	1	0	0	0	0	1	0	0	0	14122	69	3	5	170	5	SERTAD3	19	40947564	Missense_Mutation	SNP	A	TCGA-J8-A3O0-01A-11D-A21A-08		40947564	18181419	12	6646											
NKRF	55922	broad.mit.edu	37	X	118724002	118724002	+	Silent	SNP	G	G	A			TCGA-J8-A3O0-01A-11D-A21A-08	TCGA-J8-A3O0-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca22d305-a5d7-4e5a-acfd-dce09605603f	f079ecfe-3c20-4338-9e12-408dab097c66	g.chrX:118724002G>A	ENST00000371527.1	-	2	2038	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	NKRF_ENST00000542113.1_Silent_p.N477N|NKRF_ENST00000304449.5_Silent_p.N462N|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	462					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CTGTCATTCGGTTAAACTGAG	0.433																																						uc022cdk.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1429-1431)aaC>aaT		Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.							105	98	100					X																	118724002		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724002G>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1386C>T	X.37:g.118724002G>A			Somatic				NKRF_uc004erq.3_Silent_p.N462N|NKRF_uc004err.3_Silent_p.N462N	p.N477N	NM_001173487	NP_060014	WXS	Illumina GAIIx	Phase_I	O15226	NKRF_HUMAN			3	1653	-			462					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1431C>T	CCDS35375.1																																																																																				0.433	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		3	32	0	0	0	1	0	3	32					A	118724002	G	A	118724002	2	1	388	1	0	0	0	0	0	0	0	1	10447	1252	44	2		2	NKRF	23	118724002	Silent	SNP	G	TCGA-J8-A3O0-01A-11D-A21A-08		118724002	36546558	13	6647											
ATP2B4	493	broad.mit.edu	37	1	203680123	203680123	+	Missense_Mutation	SNP	A	A	G	rs530220412		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr1:203680123A>G	ENST00000357681.5	+	12	3041	c.1918A>G	c.(1918-1920)Ata>Gta	p.I640V	ATP2B4_ENST00000391954.2_Missense_Mutation_p.I640V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.I640V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I628V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I640V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	640					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACTATCTGCATAGCTTACCG	0.532																																						uc001gzw.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1918-1920)Ata>Gta		Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.							116	96	103					1																	203680123		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203680123A>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1918A>G	1.37:g.203680123A>G	ENSP00000350310:p.Ile640Val		Somatic				ATP2B4_uc001gzv.3_Missense_Mutation_p.I640V|ATP2B4_uc009xaq.3_Missense_Mutation_p.I640V	p.I640V	NM_001684	NP_001675	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2815	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		640					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1918A>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383674	0.25031	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.33	-2.64	0.06114	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.672540	0.13422	N	0.389072	T	0.37625	0.1010	N	0.10664	0.02	0.28344	N	0.9212	B;B;B	0.18013	0.025;0.002;0.025	B;B;B	0.16289	0.015;0.014;0.015	T	0.25984	-1.0116	10	0.18710	T	0.47	-5.4071	7.9587	0.30057	0.3253:0.474:0.0:0.2008	.	640;640;640	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	640;640;628;640;640	ENSP00000350310:I640V;ENSP00000356187:I640V;ENSP00000356188:I628V;ENSP00000375816:I640V;ENSP00000340930:I640V	ENSP00000340930:I640V	I	+	1	0	ATP2B4	201946746	0.713000	0.27926	0.846000	0.33378	0.990000	0.78478	0.040000	0.13905	-0.249000	0.09569	-0.340000	0.08031	ATA		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		42	82	0	0	0	1	0	42	82					G	203680123	A	G	203680123	3	3	389	1	0	0	0	0	1	0	0	0	1142	217	8	3	1960	3	ATP2B4	1	203680123	Missense_Mutation	SNP	A	TCGA-J8-A3O1-01A-11D-A21A-08		203680123	45570498	1	6648											
CKAP2L	150468	broad.mit.edu	37	2	113513632	113513632	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:113513632G>A	ENST00000302450.6	-	4	1394	c.1316C>T	c.(1315-1317)aCt>aTt	p.T439I	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.T274I	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	439						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATCAGCTTGAGTTTTGGGAGC	0.408																																						uc002tie.2																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1315-1317)aCt>aTt		Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.							218	221	220					2																	113513632		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113513632G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1316C>T	2.37:g.113513632G>A	ENSP00000305204:p.Thr439Ile		Somatic				CKAP2L_uc002tif.2_Missense_Mutation_p.T28I|CKAP2L_uc010yxp.1_Missense_Mutation_p.T274I|CKAP2L_uc010yxq.1_Missense_Mutation_p.T274I	p.T439I	NM_152515	NP_689728	WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			3	1395	-			439					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.1316C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122489	0.37436	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.24151	1.87;1.87	4.99	4.11	0.48088	.	0.192733	0.32918	N	0.005491	T	0.27169	0.0666	M	0.63428	1.95	0.26813	N	0.968964	B;B	0.22683	0.006;0.073	B;B	0.25884	0.015;0.064	T	0.23368	-1.0190	10	0.62326	D	0.03	-7.2416	9.8323	0.40950	0.0941:0.0:0.9059:0.0	.	28;439	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	I	274;439	ENSP00000438763:T274I;ENSP00000305204:T439I	ENSP00000305204:T439I	T	-	2	0	CKAP2L	113230103	1.000000	0.71417	0.950000	0.38849	0.897000	0.52465	1.191000	0.32138	1.500000	0.48636	0.573000	0.79308	ACT		0.408	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		62	70	0	0	0	1	0	62	70					A	113513632	G	A	113513632	3	1	389	1	0	0	0	0	1	0	0	0	3443	1029	36	2	945	2	CKAP2L	2	113513632	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		113513632	129685741	2	6649											
CCDC108	255101	broad.mit.edu	37	2	219886587	219886587	+	Silent	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr2:219886587G>A	ENST00000341552.5	-	18	3128	c.3045C>T	c.(3043-3045)gtC>gtT	p.V1015V	CCDC108_ENST00000441968.1_Silent_p.V1015V|CCDC108_ENST00000453220.1_Silent_p.V1015V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1015						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCAGGAGGACAAGGAACC	0.607																																						uc002vjl.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3043-3045)gtC>gtT		Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.							155	155	155					2																	219886587		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219886587G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3045C>T	2.37:g.219886587G>A			Somatic				CCDC108_uc002vjm.3_5'Flank	p.V1015V	NM_194302	NP_919278	WXS	Illumina GAIIx	Phase_I	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3129	-		Renal(207;0.0915)	1015					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3045C>T	CCDS2430.2																																																																																				0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		66	137	0	0	0	1	0	66	137					A	219886587	G	A	219886587	2	1	389	1	0	0	0	0	0	0	0	1	2743	1161	41	2		2	CCDC108	2	219886587	Silent	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	106372955	219886587	23312786	3	6650											
LTF	4057	broad.mit.edu	37	3	46484938	46484938	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:46484938G>A	ENST00000231751.4	-	13	1944	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	LTF_ENST00000493056.1_5'Flank|LTF_ENST00000417439.1_Missense_Mutation_p.A548V|LTF_ENST00000426532.2_Missense_Mutation_p.A506V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	550	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TCACCGGAAAGCCCCAGTGTA	0.532																																						uc003cpq.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1648-1650)gCt>gTt		Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	Pefloxacin(DB00487)						215	202	207					3																	46484938		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46484938G>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1649C>T	3.37:g.46484938G>A	ENSP00000231751:p.Ala550Val		Somatic				LTF_uc003fzr.3_Missense_Mutation_p.A506V|LTF_uc010hjh.3_Missense_Mutation_p.A548V|LTF_uc003cpr.3_Missense_Mutation_p.A537V	p.A550V	NM_002343	NP_001186078	WXS	Illumina GAIIx	Phase_I	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	12	1890	-			550			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1649C>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699022	0.88830	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82764	-0.0296	10	0.87932	D	0	-16.4083	16.8854	0.86074	0.0:0.0:1.0:0.0	.	548;537;550	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	V	550;506;548;537	ENSP00000231751:A550V;ENSP00000405719:A506V;ENSP00000405546:A548V;ENSP00000397427:A537V	ENSP00000231751:A550V	A	-	2	0	LTF	46459942	1.000000	0.71417	0.995000	0.50966	0.629000	0.37895	6.833000	0.75334	2.668000	0.90789	0.591000	0.81541	GCT		0.532	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		80	108	0	0	0	1	0	80	108					A	46484938	G	A	46484938	3	1	389	1	0	0	0	0	1	0	0	0	9079	971	34	2	503	2	LTF	3	46484938	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		46484938	151537492	4	6651											
ALCAM	214	broad.mit.edu	37	3	105252457	105252457	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr3:105252457G>A	ENST00000306107.5	+	5	970	c.470G>A	c.(469-471)tGc>tAc	p.C157Y	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.C106Y|ALCAM_ENST00000472644.2_Missense_Mutation_p.C157Y|ALCAM_ENST00000389927.4_5'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	157	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						TTGGGTGACTGCATTTCAGAA	0.443																																						uc003dvx.3																			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.(469-471)tGc>tAc		Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.							146	129	135					3																	105252457		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105252457G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.470G>A	3.37:g.105252457G>A	ENSP00000305988:p.Cys157Tyr		Somatic				ALCAM_uc003dvw.2_Missense_Mutation_p.C157Y|ALCAM_uc003dvy.3_Missense_Mutation_p.C157Y|ALCAM_uc011bhh.1_Missense_Mutation_p.C106Y|ALCAM_uc010hpp.3_5'UTR	p.C157Y	NM_001627	NP_001618	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			4	1166	+			157			Ig-like V-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.470G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252359	0.80135	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	D;D;D	0.99445	-5.91;-5.91;-5.91	5.84	5.84	0.93424	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.040151	0.85682	D	0.000000	D	0.99600	0.9855	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98459	1.0595	10	0.72032	D	0.01	-11.7467	20.1535	0.98095	0.0:0.0:1.0:0.0	.	157;157	B4DTU0;Q13740	.;CD166_HUMAN	Y	157;157;106	ENSP00000305988:C157Y;ENSP00000419236:C157Y;ENSP00000418213:C106Y	ENSP00000305988:C157Y	C	+	2	0	ALCAM	106735147	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.702000	0.74628	2.764000	0.94973	0.650000	0.86243	TGC		0.443	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		45	49	0	0	0	1	0	45	49					A	105252457	G	A	105252457	3	1	389	1	0	0	0	0	1	0	0	0	487	1319	46	2	488	2	ALCAM	3	105252457	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	58767519	105252457	92769973	5	6652											
TRIO	7204	broad.mit.edu	37	5	14297305	14297305	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr5:14297305C>T	ENST00000344204.4	+	7	1325	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	TRIO_ENST00000509967.2_Missense_Mutation_p.A385V|TRIO_ENST00000537187.1_Missense_Mutation_p.A434V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	434					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)					AAGGCGTTTGCGGCAGCCCTG	0.602																																						uc003jff.3																			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.(1300-1302)gCg>gTg		Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.							84	71	75					5																	14297305		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|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	g.chr5:14297305C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1301C>T	5.37:g.14297305C>T	ENSP00000339299:p.Ala434Val		Somatic				TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.A385V|TRIO_uc003jfh.1_Missense_Mutation_p.A83V	p.A434V	NM_007118	NP_009049	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			6	1307	+	Lung NSC(4;0.000742)		434					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1301C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347700	0.82022	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T;T	0.50813	0.73;0.73;0.73;0.96	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.972;0.995	T	0.64643	-0.6359	10	0.40728	T	0.16	.	18.7327	0.91741	0.0:1.0:0.0:0.0	.	385;434;434	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	V	434;434;385;121	ENSP00000339299:A434V;ENSP00000446348:A434V;ENSP00000445592:A385V;ENSP00000426342:A121V	ENSP00000339299:A434V	A	+	2	0	TRIO	14350305	1.000000	0.71417	0.335000	0.25508	0.962000	0.63368	7.818000	0.86416	2.425000	0.82216	0.462000	0.41574	GCG		0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	46	0	0	0	1	0	3	46					T	14297305	C	T	14297305	3	4	389	1	0	0	0	0	1	0	0	0	16549	768	27	1	1327	1	TRIO	5	14297305	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		14297305	166617955	6	6653											
GNL1	2794	broad.mit.edu	37	6	30513930	30513931	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr6:30513930_30513931delAT	ENST00000376621.3	-	12	2712_2713	c.1742_1743delAT	c.(1741-1743)gatfs	p.D581fs		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	581	Asp/Glu-rich (highly acidic).				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGGTctcctcatccccttctcc	0.639																																						uc003nqh.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1741-1743)gatfs		Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.																																				SO:0001589	frameshift_variant	2794				T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30513930_30513931delAT		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1742_1743delAT	6.37:g.30513930_30513931delAT	ENSP00000365806:p.Asp581fs		Somatic				GNL1_uc011dmi.2_Frame_Shift_Del_p.D378fs|GNL1_uc011dmj.2_Frame_Shift_Del_p.D579fs|GNL1_uc011dmk.2_Frame_Shift_Del_p.D236fs	p.D581fs	NM_005275	NP_005266	WXS	Illumina GAIIx	Phase_I	P36915	GNL1_HUMAN			11	3133_3134	-			581			Asp/Glu-rich (highly acidic).		B0S838|Q96CT5	Frame_Shift_Del	DEL	ENST00000376621.3	37	c.1742_1743delAT	CCDS4680.1																																																																																				0.639	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			2	4						2	4	---	---	---	---	-	30513931	AT	-	30513930	7	5	389	1	0	1	0	1	0	0	0	0	6535	214	8	0	84	0	GNL1	6	30513930	Frame_Shift_Del	DEL	AT	TCGA-J8-A3O1-01A-11D-A21A-08		30513930	140601137	7	6654											
ZNF713	349075	broad.mit.edu	37	7	56006963	56006963	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:56006963G>A	ENST00000429591.2	+	4	595	c.557G>A	c.(556-558)aGa>aAa	p.R186K	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	186					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)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGCAGCAGAGAATTCCTTCC	0.368																																						uc003tra.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(595-597)aGa>aAa		Homo sapiens zinc finger protein 713 (ZNF713), mRNA.							51	53	52					7																	56006963		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56006963G>A	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.557G>A	7.37:g.56006963G>A	ENSP00000416662:p.Arg186Lys		Somatic				ZNF713_uc003trc.1_Missense_Mutation_p.R186K	p.R199K	NM_182633	NP_872439	WXS	Illumina GAIIx	Phase_I	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1403	+	Breast(14;0.214)		186						Missense_Mutation	SNP	ENST00000429591.2	37	c.596G>A	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	G	1.158	-0.644724	0.03531	.	.	ENSG00000178665	ENST00000429591	T	0.06142	3.34	3.78	0.963	0.19649	.	0.413435	0.18199	N	0.148580	T	0.05960	0.0155	L	0.56769	1.78	0.21933	N	0.999462	B	0.32071	0.355	B	0.29267	0.1	T	0.36286	-0.9754	10	0.22109	T	0.4	.	5.9854	0.19432	0.4596:0.0:0.5404:0.0	.	186	Q8N859	ZN713_HUMAN	K	186	ENSP00000416662:R186K	ENSP00000416662:R186K	R	+	2	0	ZNF713	55974457	0.993000	0.37304	0.177000	0.23020	0.034000	0.12701	2.044000	0.41241	0.195000	0.20347	0.591000	0.81541	AGA		0.368	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		13	28	0	0	0	1	0	13	28					A	56006963	G	A	56006963	3	1	389	1	0	0	0	0	1	0	0	0	18114	942	33	2	571	2	ZNF713	7	56006963	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		56006963	103131700	8	6655											
THAP5	168451	broad.mit.edu	37	7	108204990	108204990	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr7:108204990G>A	ENST00000415914.3	-	3	986	c.833C>T	c.(832-834)gCt>gTt	p.A278V	THAP5_ENST00000313516.5_Missense_Mutation_p.A236V|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	278					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AGAATTTTCAGCAGGTACAAA	0.328																																						uc003vfm.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(832-834)gCt>gTt		Homo sapiens THAP domain containing 5 (THAP5), transcript variant 1, mRNA.							79	84	83					7																	108204990		2203	4300	6503	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108204990G>A	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.833C>T	7.37:g.108204990G>A	ENSP00000400500:p.Ala278Val		Somatic				THAP5_uc003vfl.3_Missense_Mutation_p.A236V	p.A278V	NM_001130475	NP_872335	WXS	Illumina GAIIx	Phase_I	Q7Z6K1	THAP5_HUMAN			2	987	-			278						Missense_Mutation	SNP	ENST00000415914.3	37	c.833C>T	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047326	0.36085	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.97209	-4.29;-2.81	4.6	2.78	0.32641	.	.	.	.	.	D	0.91640	0.7358	L	0.27053	0.805	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	D	0.83753	0.0210	8	.	.	.	.	5.9769	0.19385	0.1714:0.1558:0.6728:0.0	.	278	Q7Z6K1	THAP5_HUMAN	V	278;236	ENSP00000400500:A278V;ENSP00000322440:A236V	.	A	-	2	0	THAP5	107992226	0.998000	0.40836	0.688000	0.30117	0.958000	0.62258	2.165000	0.42396	0.489000	0.27749	-0.145000	0.13849	GCT		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		3	33	0	0	0	1	0	3	33					A	108204990	G	A	108204990	3	1	389	1	0	0	0	0	1	0	0	0	15844	971	34	2	358	2	THAP5	7	108204990	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	52198027	108204990	50933673	9	6656											
LDHA	3939	broad.mit.edu	37	11	18427040	18427040	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr11:18427040T>C	ENST00000422447.3	+	7	1028	c.755T>C	c.(754-756)aTt>aCt	p.I252T	LDHA_ENST00000430553.2_Missense_Mutation_p.I194T|LDHA_ENST00000542179.1_Missense_Mutation_p.I252T|LDHA_ENST00000379412.5_Missense_Mutation_p.I252T|LDHA_ENST00000396222.2_Intron|LDHA_ENST00000540430.1_Missense_Mutation_p.I281T|LDHA_ENST00000227157.4_Intron|AC084117.3_ENST00000496975.2_RNA	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	252					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TCCTGGGCTATTGGACTCTCT	0.443																																						uc010rdd.2																			0		p.Y281C(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(841-843)aTt>aCt		Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 3, mRNA.	NADH(DB00157)						117	117	117					11																	18427040		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18427040T>C	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.755T>C	11.37:g.18427040T>C	ENSP00000395337:p.Ile252Thr		Somatic				LDHA_uc001mok.3_Missense_Mutation_p.I252T|LDHA_uc009yho.2_Missense_Mutation_p.I79T|LDHA_uc001mol.3_Intron|LDHA_uc010rdc.1_Missense_Mutation_p.I194T|LDHA_uc021qep.1_Intron	p.I281T	NM_001165414	NP_005557	WXS	Illumina GAIIx	Phase_I	P00338	LDHA_HUMAN			6	1124	+			252					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.842T>C	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745808	0.69418	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.12	5.12	0.69794	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.93898	3.47	0.80722	D	1	P;B;B;B	0.45428	0.858;0.07;0.02;0.352	P;B;B;P	0.59171	0.853;0.317;0.069;0.548	D	0.88705	0.3218	10	0.87932	D	0	-3.4515	15.205	0.73173	0.0:0.0:0.0:1.0	.	281;194;225;252	B7Z5E3;B4DKQ2;B4DJI1;P00338	.;.;.;LDHA_HUMAN	T	252;194;224;225;281;252;252	ENSP00000395337:I252T;ENSP00000406172:I194T;ENSP00000445175:I281T;ENSP00000368722:I252T;ENSP00000445331:I252T	ENSP00000368722:I252T	I	+	2	0	LDHA	18383616	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.810000	0.86072	2.056000	0.61249	0.374000	0.22700	ATT		0.443	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		4	72	0	0	0	1	0	4	72					C	18427040	T	C	18427040	3	2	389	1	0	0	0	0	1	0	0	0	8698	1493	52	3	868	3	LDHA	11	18427040	Missense_Mutation	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08		18427040	116579476	10	6657											
TSFM	25895	broad.mit.edu	37	12	58176601	58176601	+	IGR	SNP	C	C	T	rs372337739		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr12:58176601C>T	ENST00000300209.8	+	0	2563				TSFM_ENST00000543727.1_Missense_Mutation_p.S6L|TSFM_ENST00000540550.1_Missense_Mutation_p.S6L|TSFM_ENST00000548851.1_Missense_Mutation_p.S6L|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000323833.8_Missense_Mutation_p.S6L|TSFM_ENST00000454289.3_Missense_Mutation_p.S6L|TSFM_ENST00000550559.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000471530.1_Intron|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CTGCTGCGGTCGCTGCGCGTG	0.652											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sqh.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(16-18)tCg>tTg		Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	35	32	33		17,17,17,17	5.0	0.1	12		33	1,8575		0,1,4287	no	missense,missense,missense,missense	TSFM	NM_001172695.1,NM_001172696.1,NM_001172697.1,NM_005726.5	145,145,145,145	0,1,6489	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,benign,benign	6/168,6/347,6/216,6/326	58176601	1,12979	2202	4288	6490	SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58176601C>T	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176601C>T			Somatic	OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	TSFM_uc021qzq.1_Missense_Mutation_p.S6L|TSFM_uc001sqi.3_Missense_Mutation_p.S6L|TSFM_uc010ssf.2_Missense_Mutation_p.S6L|TSFM_uc010sse.2_5'UTR	p.S6L	NM_001172696	NP_001166167	WXS	Illumina GAIIx	Phase_I	P43897	EFTS_HUMAN			0	74	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		6					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.17C>T	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166078	0.38217	0.0	1.17E-4	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851	.	.	.	4.99	4.99	0.66335	.	0.803958	0.11438	N	0.564111	T	0.40094	0.1103	L	0.29908	0.895	0.80722	D	1	P;B;P	0.40083	0.702;0.382;0.593	B;B;B	0.32149	0.141;0.037;0.063	T	0.39781	-0.9597	9	0.52906	T	0.07	.	13.6139	0.62097	0.0:1.0:0.0:0.0	.	6;6;6	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	L	6	.	ENSP00000313877:S6L	S	+	2	0	TSFM	56462868	0.043000	0.20138	0.073000	0.20177	0.014000	0.08584	1.897000	0.39799	2.589000	0.87451	0.462000	0.41574	TCG		0.652	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		4	9	0	0	0	1	0	4	9					T	58176601	C	T	58176601	1	4	389	0	1	0	0	0	0	0	0	0	16612	893	31	1		1	TSFM	12	58176601	IGR	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		58176601	75675294	11	6658											
PRKD1	5587	broad.mit.edu	37	14	30105538	30105538	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:30105538T>C	ENST00000331968.5	-	7	1377	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Missense_Mutation_p.Q391R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	383					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)		GTCTGGATCTTGCATCTCGCC	0.537																																						uc001wqh.3																			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.(1147-1149)cAa>cGa		Homo sapiens protein kinase D1 (PRKD1), mRNA.							354	271	299					14																	30105538		2203	4300	6503	SO:0001583	missense	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.chr14:30105538T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1148A>G	14.37:g.30105538T>C	ENSP00000333568:p.Gln383Arg		Somatic				MIR548AI_uc021rrv.1_Intron	p.Q383R	NM_002742	NP_002733	WXS	Illumina GAIIx	Phase_I	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	6	1329	-	Hepatocellular(127;0.0604)		383					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1148A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.383993	0.25031	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65549	-0.16;-0.16	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.48995	0.1531	N	0.24115	0.695	0.49483	D	0.999797	B	0.06786	0.001	B	0.06405	0.002	T	0.42716	-0.9435	10	0.16896	T	0.51	-19.3577	16.8222	0.85835	0.0:0.0:0.0:1.0	.	383	Q15139	KPCD1_HUMAN	R	383;391	ENSP00000333568:Q383R;ENSP00000390535:Q391R	ENSP00000333568:Q383R	Q	-	2	0	PRKD1	29175289	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.474000	0.66781	2.371000	0.80710	0.533000	0.62120	CAA		0.537	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		102	120	0	0	0	1	0	102	120					C	30105538	T	C	30105538	3	2	389	1	0	0	0	0	1	0	0	0	12518	1812	63	3	1638	3	PRKD1	14	30105538	Missense_Mutation	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08		30105538	77244002	12	6659											
SFRS5	6430	broad.mit.edu	37	14	70237718	70237718	+	Silent	SNP	T	T	G			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:70237718T>G	ENST00000553521.1	+	8	1900	c.447T>G	c.(445-447)gtT>gtG	p.V149V	SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Silent_p.V149V|SRSF5_ENST00000394366.2_Silent_p.V149V|SRSF5_ENST00000553635.1_Silent_p.V146V			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	149	RRM 2. {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 splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						TTAGGGTGGTTGAGTTTGCCT	0.358																																						uc001xll.3																			0				large_intestine(1)|liver(1)	2						c.(445-447)gtT>gtG		Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.							127	123	124					14																	70237718		2203	4300	6503	SO:0001819	synonymous_variant	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding	g.chr14:70237718T>G	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.447T>G	14.37:g.70237718T>G			Somatic				SRSF5_uc001xlo.3_Silent_p.V149V|SRSF5_uc001xlp.3_Silent_p.V149V	p.V149V	NM_006925	NP_008856	WXS	Illumina GAIIx	Phase_I	Q13243	SRSF5_HUMAN			7	1898	+			149			RRM 2.		O14797|Q16662|Q49AD6|Q6FGE0	Silent	SNP	ENST00000553521.1	37	c.447T>G	CCDS32109.1																																																																																				0.358	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		6	24	0	0	0	1	0	6	24					G	70237718	T	G	70237718	2	3	389	1	0	0	0	0	0	0	0	1	14180	1799	63	5		5	SFRS5	14	70237718	Silent	SNP	T	TCGA-J8-A3O1-01A-11D-A21A-08	40132180	70237718	37111822	13	6660											
CATSPERB	79820	broad.mit.edu	37	14	92088170	92088170	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr14:92088170G>A	ENST00000256343.3	-	19	2198	c.2042C>T	c.(2041-2043)gCt>gTt	p.A681V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	681					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGGCATGGTAGCAATGGCTAA	0.393																																						uc001xzs.1																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2041-2043)gCt>gTt		Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.							118	104	109					14																	92088170		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92088170G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2042C>T	14.37:g.92088170G>A	ENSP00000256343:p.Ala681Val		Somatic				CATSPERB_uc010aub.1_Missense_Mutation_p.A203V	p.A681V	NM_024764	NP_079040	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			18	2182	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	681					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2042C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041442	0.75732	.	.	ENSG00000133962	ENST00000256343	T	0.57595	0.39	5.43	5.43	0.79202	.	0.257129	0.27280	N	0.020099	T	0.69593	0.3128	M	0.62723	1.935	0.24123	N	0.995793	D	0.76494	0.999	D	0.71656	0.974	T	0.64063	-0.6495	10	0.72032	D	0.01	-17.8103	16.1571	0.81675	0.0:0.0:1.0:0.0	.	681	Q9H7T0	CTSRB_HUMAN	V	681	ENSP00000256343:A681V	ENSP00000256343:A681V	A	-	2	0	CATSPERB	91157923	0.969000	0.33509	0.088000	0.20740	0.059000	0.15707	5.403000	0.66338	2.541000	0.85698	0.591000	0.81541	GCT		0.393	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	47	0	0	0	1	0	3	47					A	92088170	G	A	92088170	3	1	389	1	0	0	0	0	1	0	0	0	2691	971	34	2	1344	2	CATSPERB	14	92088170	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08	21850452	92088170	15261370	14	6661											
MYH2	4620	broad.mit.edu	37	17	10432293	10432293	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr17:10432293C>A	ENST00000245503.5	-	27	3842	c.3458G>T	c.(3457-3459)aGc>aTc	p.S1153I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1153I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1153					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						CAGCCTCTCGCTGATCTCCTC	0.617																																						uc010coi.3																			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.(3457-3459)aGc>aTc		Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.							70	81	78					17																	10432293		2202	4298	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432293C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3458G>T	17.37:g.10432293C>A	ENSP00000245503:p.Ser1153Ile		Somatic				AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1153I|MYH2_uc010coj.3_Intron	p.S1153I	NM_001100112	NP_060004	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			26	3586	-			1153					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3458G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442800	0.83993	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83163	-1.69;-1.69	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.46442	U	0.000283	D	0.94345	0.8182	H	0.96777	3.88	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95990	0.8985	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1153	Q9UKX2	MYH2_HUMAN	I	1153	ENSP00000245503:S1153I;ENSP00000380367:S1153I	ENSP00000245503:S1153I	S	-	2	0	MYH2	10373018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	AGC		0.617	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		90	96	0	0	0	1	0	90	96					A	10432293	C	A	10432293	3	1	389	1	0	0	0	0	1	0	0	0	10035	797	28	4	2423	4	MYH2	17	10432293	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		10432293	70762917	15	6662											
PTPRS	5802	broad.mit.edu	37	19	5206842	5206842	+	Missense_Mutation	SNP	C	C	G	rs199713079		TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chr19:5206842C>G	ENST00000587303.1	-	37	5889	c.5790G>C	c.(5788-5790)caG>caC	p.Q1930H	PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q1892H|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q1910H|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q1892H|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q1483H|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q1930H|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q1483H|PTPRS_ENST00000372412.4_Missense_Mutation_p.Q1931H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1930	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGTAACAGAACTGGTACTCAT	0.612																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5788-5790)caG>caC		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							144	122	129					19																	5206842		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5206842C>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5790G>C	19.37:g.5206842C>G	ENSP00000467537:p.Gln1930His		Somatic				PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Missense_Mutation_p.Q1472H|PTPRS_uc002mbw.3_Missense_Mutation_p.Q1892H|PTPRS_uc002mbx.3_Missense_Mutation_p.Q1487H|PTPRS_uc002mby.3_Missense_Mutation_p.Q1483H	p.Q1930H	NM_002850	NP_002841	WXS	Illumina GAIIx	Phase_I	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	37	6024	-			1930			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5790G>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760373	0.31137	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	2.91	2.91	0.33838	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000007	D	0.84051	0.5387	N	0.21448	0.665	0.58432	D	0.999997	D;B;D;B;D	0.89917	1.0;0.302;0.999;0.417;0.999	D;B;D;B;D	0.91635	0.999;0.116;0.998;0.379;0.999	D	0.85336	0.1093	10	0.52906	T	0.07	.	13.9299	0.63989	0.0:1.0:0.0:0.0	.	1512;1483;1487;1892;1930	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332	.;.;.;.;PTPRS_HUMAN	H	1931;1930;1930;1921;1910;1892;1512;1487;1483	ENSP00000361489:Q1931H;ENSP00000349932:Q1930H;ENSP00000262963:Q1910H;ENSP00000269907:Q1892H;ENSP00000327313:Q1483H	ENSP00000262963:Q1910H	Q	-	3	2	PTPRS	5157842	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.105000	0.57797	1.482000	0.48325	0.471000	0.43371	CAG		0.612	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	99	0	0	0	1	0	7	99					G	5206842	C	G	5206842	3	3	389	1	0	0	0	0	1	0	0	0	12811	564	20	4	60	4	PTPRS	19	5206842	Missense_Mutation	SNP	C	TCGA-J8-A3O1-01A-11D-A21A-08		5206842	53922141	16	6663											
PLP1	5354	broad.mit.edu	37	X	103041545	103041545	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3O1-01A-11D-A21A-08	TCGA-J8-A3O1-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1471f233-85c1-4689-853a-01947d5ba299	d48f2242-1f17-4fef-a647-c19839582493	g.chrX:103041545G>A	ENST00000303958.2	+	3	489	c.343G>A	c.(343-345)Gca>Aca	p.A115T	PLP1_ENST00000361621.2_Missense_Mutation_p.A115T|PLP1_ENST00000418604.1_Missense_Mutation_p.A115T	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	115					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GGGCCTGAGCGCAACGGTAAC	0.582																																						uc010nov.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(343-345)Gca>Aca		Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.							118	104	109					X																	103041545		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041545G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.343G>A	X.37:g.103041545G>A	ENSP00000305152:p.Ala115Thr		Somatic				RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.A115T|PLP1_uc004elj.3_Missense_Mutation_p.A115T|PLP1_uc011msf.2_Missense_Mutation_p.A60T|PLP1_uc010now.1_Missense_Mutation_p.A119T|PLP1_uc010nox.3_Missense_Mutation_p.A69T	p.A115T	NM_001128834	NP_001122306	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			3	623	+			115					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.343G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478890	0.63849	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000418604;ENST00000303958;ENST00000361621	D;D;D;D;D;D;D	0.99445	-5.56;-5.56;-5.56;-5.56;-5.91;-5.91;-5.56	5.78	5.78	0.91487	.	0.390705	0.30869	N	0.008707	D	0.98614	0.9536	L	0.39397	1.21	0.33890	D	0.637175	D;P;P;P;B	0.63046	0.992;0.944;0.94;0.944;0.006	P;B;P;B;B	0.52856	0.711;0.403;0.525;0.403;0.009	D	0.99961	1.1724	10	0.56958	D	0.05	-18.7842	11.2825	0.49203	0.0:0.0:0.8182:0.1818	.	60;115;115;115;115	B4DI30;A8K9L3;B1B1G6;P60201;P60201-2	.;.;.;MYPR_HUMAN;.	T	115	ENSP00000403335:A115T;ENSP00000399913:A115T;ENSP00000409802:A115T;ENSP00000413931:A115T;ENSP00000405750:A115T;ENSP00000305152:A115T;ENSP00000354860:A115T	ENSP00000305152:A115T	A	+	1	0	PLP1	102928201	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	4.285000	0.58989	2.417000	0.82017	0.600000	0.82982	GCA		0.582	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			4	171	0	0	0	1	0	4	171					A	103041545	G	A	103041545	3	1	389	1	0	0	0	0	1	0	0	0	12104	1087	38	1	353	1	PLP1	23	103041545	Missense_Mutation	SNP	G	TCGA-J8-A3O1-01A-11D-A21A-08		103041545	52229015	17	6664											
CASZ1	54897	broad.mit.edu	37	1	10714637	10714637	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr1:10714637G>T	ENST00000377022.3	-	10	1994	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.N559K	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	559					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGTACACCTTGTTACAGCCCA	0.607																																						uc001aro.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1675-1677)aaC>aaA		Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.							199	183	189					1																	10714637		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714637G>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1677C>A	1.37:g.10714637G>T	ENSP00000366221:p.Asn559Lys		Somatic				CASZ1_uc001arp.1_Missense_Mutation_p.N559K|CASZ1_uc009vmx.2_Missense_Mutation_p.N583K	p.N559K	NM_001079843	NP_001073312	WXS	Illumina GAIIx	Phase_I	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1997	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	559					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1677C>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963700	0.92791	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.085777	0.85682	D	0.000000	T	0.53222	0.1783	N	0.12182	0.205	0.50467	D	0.999872	D;D;D	0.69078	0.967;0.962;0.997	P;P;D	0.81914	0.74;0.63;0.995	T	0.58233	-0.7672	9	0.54805	T	0.06	-45.6206	12.0439	0.53469	0.0793:0.0:0.9207:0.0	.	583;559;559	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	K	559	.	ENSP00000339445:N559K	N	-	3	2	CASZ1	10637224	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.449000	0.66619	2.478000	0.83669	0.561000	0.74099	AAC		0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		12	190	0	0	0	1	0	12	190					T	10714637	G	T	10714637	3	4	390	1	0	0	0	0	1	0	0	0	2685	1368	48	4	3654	4	CASZ1	1	10714637	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08		10714637	238535984	1	6665											
SPTA1	6708	broad.mit.edu	37	1	158646045	158646045	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr1:158646045G>A	ENST00000368147.4	-	8	1178	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	333					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)					TGAAGGATGGGAAAGTGTCAG	0.478																																						uc001fst.1																			0		p.L332R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(997-999)tCc>tTc		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							217	204	208					1																	158646045		1924	4142	6066	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.chr1:158646045G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.998C>T	1.37:g.158646045G>A	ENSP00000357129:p.Ser333Phe		Somatic					p.S333F	NM_003126	NP_003117	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			7	1197	-	all_hematologic(112;0.0378)		333					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.998C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141830	0.57044	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53857	0.6;0.6	5.24	4.33	0.51752	.	0.000000	0.31554	N	0.007457	T	0.49064	0.1535	M	0.81802	2.56	0.41251	D	0.986717	P	0.36660	0.564	B	0.42361	0.385	T	0.58891	-0.7556	10	0.62326	D	0.03	.	12.7525	0.57316	0.0792:0.0:0.9208:0.0	.	333	P02549	SPTA1_HUMAN	F	333	ENSP00000357130:S333F;ENSP00000357129:S333F	ENSP00000357129:S333F	S	-	2	0	SPTA1	156912669	1.000000	0.71417	0.162000	0.22713	0.780000	0.44128	6.567000	0.73983	1.435000	0.47434	0.655000	0.94253	TCC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		108	161	0	0	0	1	0	108	161					A	158646045	G	A	158646045	3	1	390	1	0	0	0	0	1	0	0	0	15115	1174	41	2	6441	2	SPTA1	1	158646045	Missense_Mutation	SNP	G	TCGA-J8-A3YE-01A-12D-A23M-08	147931408	158646045	90604576	2	6666											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	51	0	0	0	1	0	36	51					T	140453136	A	T	140453136	3	4	390	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-J8-A3YE-01A-12D-A23M-08		140453136	18685527	3	6667											
EFR3A	23167	broad.mit.edu	37	8	132999878	132999878	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr8:132999878T>C	ENST00000254624.5	+	18	2219	c.1994T>C	c.(1993-1995)aTt>aCt	p.I665T	EFR3A_ENST00000334503.4_Missense_Mutation_p.I665T|EFR3A_ENST00000519656.1_Missense_Mutation_p.I629T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	665						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ACCAACAAGATTGCAGAGTCG	0.368																																						uc003yte.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(1993-1995)aTt>aCt		Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.							97	80	86					8																	132999878		2201	4299	6500	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132999878T>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1994T>C	8.37:g.132999878T>C	ENSP00000254624:p.Ile665Thr		Somatic					p.I665T	NM_015137	NP_055952	WXS	Illumina GAIIx	Phase_I	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		17	2198	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		665					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.1994T>C	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475141	0.63737	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39787	1.06;1.06;1.06	6.07	6.07	0.98685	.	0.127823	0.64402	D	0.000001	T	0.61135	0.2323	M	0.67397	2.05	0.58432	D	0.999997	D	0.58620	0.983	P	0.61800	0.894	T	0.64118	-0.6482	10	0.87932	D	0	-27.8165	15.8218	0.78654	0.0:0.0:0.0:1.0	.	665	Q14156	EFR3A_HUMAN	T	665;44;621;665;629	ENSP00000254624:I665T;ENSP00000334769:I665T;ENSP00000428086:I629T	ENSP00000254624:I665T	I	+	2	0	EFR3A	133069060	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.407000	0.80029	2.326000	0.78906	0.533000	0.62120	ATT		0.368	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		5	5	0	0	0	1	0	5	5					C	132999878	T	C	132999878	3	2	390	1	0	0	0	0	1	0	0	0	4958	1493	52	3	2064	3	EFR3A	8	132999878	Missense_Mutation	SNP	T	TCGA-J8-A3YE-01A-12D-A23M-08		132999878	13364144	4	6668											
KIAA1432	57589	broad.mit.edu	37	9	5720735	5720735	+	Silent	SNP	T	T	C			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr9:5720735T>C	ENST00000414202.2	+	6	896	c.705T>C	c.(703-705)agT>agC	p.S235S	RP11-207C16.4_ENST00000426764.1_RNA|KIAA1432_ENST00000381532.2_Silent_p.S156S|KIAA1432_ENST00000449720.2_Silent_p.S156S|KIAA1432_ENST00000418622.3_Silent_p.S156S|KIAA1432_ENST00000251879.6_Silent_p.S235S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CAGTGTCAAGTAGATTTACTG	0.328																																						uc003zjl.4																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(703-705)agT>agC		Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.							203	202	202					9																	5720735		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5720735T>C																												ENST00000414202.2:c.705T>C	9.37:g.5720735T>C			Somatic				KIAA1432_uc003zjh.3_Silent_p.S156S|KIAA1432_uc003zji.3_Silent_p.S156S|KIAA1432_uc003zjj.1_5'UTR	p.S235S	NM_001206557	NP_001193486	WXS	Illumina GAIIx	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	5	896	+		Acute lymphoblastic leukemia(23;0.154)	235						Silent	SNP	ENST00000414202.2	37	c.705T>C	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	T	9.616	1.132527	0.21041	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0105	15.5305	0.75956	0.0:0.0:0.0:1.0	.	.	.	.	Q	164	.	.	X	+	1	0	KIAA1432	5710735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.613000	0.36900	2.117000	0.64856	0.460000	0.39030	TAG		0.328	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			73	98	0	0	0	1	0	73	98					C	5720735	T	C	5720735	2	2	390	1	0	0	0	0	0	0	0	1	8233	1635	57	3		3	KIAA1432	9	5720735	Silent	SNP	T	TCGA-J8-A3YE-01A-12D-A23M-08		5720735	135492696	5	6669											
ATM	472	broad.mit.edu	37	11	108196147	108196147	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr11:108196147C>T	ENST00000452508.2	+	47	6872	c.6683C>T	c.(6682-6684)aCa>aTa	p.T2228I	ATM_ENST00000278616.4_Missense_Mutation_p.T2228I|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2228	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCTCTACGCACAGTCATTTTG	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(6682-6684)aCa>aTa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							142	139	140					11																	108196147		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108196147C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6683C>T	11.37:g.108196147C>T	ENSP00000388058:p.Thr2228Ile	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Missense_Mutation_p.T2228I|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.T880I|ATM_uc001pkg.1_Missense_Mutation_p.T585I	p.T2228I	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	45	7068	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2228			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6683C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446678	0.63178	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69806	-0.43;-0.43	5.03	5.03	0.67393	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.099426	0.64402	D	0.000001	T	0.74703	0.3751	L	0.54323	1.7	0.80722	D	1	P	0.50369	0.934	P	0.55923	0.787	T	0.71862	-0.4464	10	0.31617	T	0.26	.	18.7331	0.91742	0.0:1.0:0.0:0.0	.	2228	Q13315	ATM_HUMAN	I	2228	ENSP00000278616:T2228I;ENSP00000388058:T2228I	ENSP00000278616:T2228I	T	+	2	0	ATM	107701357	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.122000	0.77169	2.505000	0.84491	0.655000	0.94253	ACA		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		53	81	0	0	0	1	0	53	81					T	108196147	C	T	108196147	3	4	390	1	0	0	0	0	1	0	0	0	1109	478	17	2	6861	2	ATM	11	108196147	Missense_Mutation	SNP	C	TCGA-J8-A3YE-01A-12D-A23M-08		108196147	26810369	6	6670											
ADSSL1	122622	broad.mit.edu	37	14	105211154	105211154	+	Frame_Shift_Del	DEL	C	C	-	rs369513600		TCGA-J8-A3YE-01A-12D-A23M-08	TCGA-J8-A3YE-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e53c7649-f665-435b-84b1-c5c7c7ebdabd	e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3	g.chr14:105211154delC	ENST00000330877.2	+	11	1164	c.1079delC	c.(1078-1080)gccfs	p.A360fs	ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000556623.1_5'Flank|ADSSL1_ENST00000555674.1_5'Flank|ADSSL1_ENST00000332972.5_Frame_Shift_Del_p.A403fs	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CACAGGCTGGCCCTGACGAAG	0.532																																						uc001ype.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1207-1209)gccfs		Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 1, mRNA.	L-Aspartic Acid(DB00128)						77	74	75					14																	105211154		2203	4300	6503	SO:0001589	frameshift_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding	g.chr14:105211154delC	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.1079delC	14.37:g.105211154delC	ENSP00000331260:p.Ala360fs		Somatic				ADSSL1_uc001ypd.3_Frame_Shift_Del_p.A360fs|ADSSL1_uc001ypf.3_Non-coding_Transcript	p.A403fs	NM_199165	NP_954634	WXS	Illumina GAIIx	Phase_I	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	10	1210	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	360						Frame_Shift_Del	DEL	ENST00000330877.2	37	c.1208delC	CCDS9990.1																																																																																				0.532	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			27	46						27	46	---	---	---	---	-	105211154	C	-	105211154	7	5	390	1	0	1	0	1	0	0	0	0	348	739	26	0	1446	0	ADSSL1	14	105211154	Frame_Shift_Del	DEL	C	TCGA-J8-A3YE-01A-12D-A23M-08		105211154	2138386	7	6671											
LYST	1130	broad.mit.edu	37	1	235952076	235952076	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr1:235952076T>C	ENST00000389794.3	-	13	4787	c.4613A>G	c.(4612-4614)cAt>cGt	p.H1538R	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H1538R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1538					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)			TGAAATTATATGAATACATCC	0.413																																						uc001hxj.2																			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.(4612-4614)cAt>cGt		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							98	87	91					1																	235952076		2203	4300	6503	SO:0001583	missense	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.chr1:235952076T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4613A>G	1.37:g.235952076T>C	ENSP00000374444:p.His1538Arg		Somatic				LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	p.H1538R	NM_000081	NP_000072	WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4788	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1538					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4613A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229723	0.79688	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.78481	-1.18;-1.18	5.4	5.4	0.78164	.	4.311150	0.00465	N	0.000114	D	0.82582	0.5068	M	0.71581	2.175	0.80722	D	1	P	0.52577	0.954	B	0.43575	0.424	T	0.72023	-0.4415	10	0.87932	D	0	.	13.9927	0.64376	0.0:0.0:0.0:1.0	.	1538	Q99698	LYST_HUMAN	R	1538	ENSP00000374444:H1538R;ENSP00000374443:H1538R	ENSP00000374443:H1538R	H	-	2	0	LYST	234018699	1.000000	0.71417	0.857000	0.33713	0.996000	0.88848	7.105000	0.77031	2.045000	0.60652	0.460000	0.39030	CAT		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			3	25	0	0	0	1	0	3	25					C	235952076	T	C	235952076	3	2	391	1	0	0	0	0	1	0	0	0	9128	1464	51	3	6956	3	LYST	1	235952076	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08		235952076	13298545	1	6672											
STAT4	6775	broad.mit.edu	37	2	191926496	191926496	+	Silent	SNP	C	C	T	rs559315611		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:191926496C>T	ENST00000392320.2	-	10	1307	c.993G>A	c.(991-993)ccG>ccA	p.P331P	STAT4_ENST00000358470.4_Silent_p.P331P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	331					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TAAGTACCAACGGCCTCTGAG	0.393													C|||	1	0.000199681	0	0	5008	,	,		20647	0		0.001	False		,,,				2504	0					uc002usm.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(991-993)ccG>ccA		Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.							237	248	245					2																	191926496		2203	4300	6503	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191926496C>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.993G>A	2.37:g.191926496C>T			Somatic				STAT4_uc002usn.2_Silent_p.P331P|STAT4_uc010zgk.1_Silent_p.P176P|STAT4_uc002uso.2_Silent_p.P331P	p.P331P	NM_003151	NP_003142	WXS	Illumina GAIIx	Phase_I	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		9	1308	-			331					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.993G>A	CCDS2310.1																																																																																				0.393	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		13	154	0	0	0	1	0	13	154					T	191926496	C	T	191926496	2	4	391	1	0	0	0	0	0	0	0	1	15266	523	19	1		1	STAT4	2	191926496	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		191926496	51272877	2	6673											
ANKMY1	51281	broad.mit.edu	37	2	241468502	241468502	+	Missense_Mutation	SNP	T	T	A	rs199953888	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:241468502T>A	ENST00000272972.3	-	4	852	c.638A>T	c.(637-639)aAt>aTt	p.N213I	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.N213I|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	213							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGGTCTCATTGATTATGAA	0.512																																						uc010fzd.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(904-906)aAt>aTt		Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.							157	158	158					2																	241468502		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468502T>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.638A>T	2.37:g.241468502T>A	ENSP00000272972:p.Asn213Ile		Somatic				ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N213I|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	p.N302I	NM_016552	NP_057636	WXS	Illumina GAIIx	Phase_I	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	1030	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	213					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.905A>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.70|13.70	2.314542|2.314542	0.40996|0.40996	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708|ENST00000443318	T;T;T;T|.	0.59906|.	0.28;0.28;0.23;1.22|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.384459|.	0.25526|.	N|.	0.030075|.	T|T	0.72692|0.72692	0.3492|0.3492	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	P;P|.	0.45428|.	0.858;0.858|.	B;B|.	0.37550|.	0.253;0.253|.	T|T	0.73959|0.73959	-0.3818|-0.3818	10|5	0.87932|.	D|.	0|.	-16.7088|-16.7088	12.5648|12.5648	0.56304|0.56304	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	213;213|.	Q4ZFV3;Q9P2S6|.	.;ANKY1_HUMAN|.	I|H	213;213;302;213;213|157	ENSP00000272972:N213I;ENSP00000375847:N213I;ENSP00000385887:N302I;ENSP00000407015:N213I|.	ENSP00000272972:N213I|.	N|Q	-|-	2|3	0|2	ANKMY1|ANKMY1	241117175|241117175	1.000000|1.000000	0.71417|0.71417	0.085000|0.085000	0.20634|0.20634	0.074000|0.074000	0.17049|0.17049	5.342000|5.342000	0.65970|0.65970	1.923000|1.923000	0.55706|0.55706	0.533000|0.533000	0.62120|0.62120	AAT|CAA		0.512	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		29	47	0	0	0	1	0	29	47					A	241468502	T	A	241468502	3	1	391	1	0	0	0	0	1	0	0	0	634	1493	52	5	2243	5	ANKMY1	2	241468502	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08	49542006	241468502	1730871	3	6674											
ODZ2	57451	broad.mit.edu	37	5	167645509	167645509	+	Missense_Mutation	SNP	C	C	T	rs370446142		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr5:167645509C>T	ENST00000518659.1	+	23	4652	c.4613C>T	c.(4612-4614)gCg>gTg	p.A1538V	TENM2_ENST00000519204.1_Missense_Mutation_p.A1417V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1538					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)										GATGCCTACGCGACTGATGCC	0.502																																						uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(4585-4587)gCg>gTg		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.		C	VAL/ALA	0,4102		0,0,2051	189	186	187		4586	5.9	0.8	5		187	1,8409		0,1,4204	no	missense	ODZ2	NM_001122679.1	64	0,1,6255	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1529/2766	167645509	1,12511	2051	4205	6256	SO:0001583	missense	57451							g.chr5:167645509C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4613C>T	5.37:g.167645509C>T	ENSP00000429430:p.Ala1538Val		Somatic				ODZ2_uc003lzr.4_Missense_Mutation_p.A1299V|ODZ2_uc003lzt.4_Missense_Mutation_p.A902V|ODZ2_uc010jje.3_Missense_Mutation_p.A793V	p.A1529V	NM_001122679	NP_001116151	WXS	Illumina GAIIx	Phase_I			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	22	4586	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4586C>T		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808693	0.90707	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92805	-2.65;-2.64;-2.76;-3.08;-3.11	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	D	0.97948	1.0330	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1537;1538;1299	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1538;1537;1417;1299;1362	ENSP00000429430:A1538V;ENSP00000438635:A1537V;ENSP00000428964:A1417V;ENSP00000427874:A1299V;ENSP00000384905:A1362V	ENSP00000384905:A1362V	A	+	2	0	ODZ2	167578087	1.000000	0.71417	0.784000	0.31847	0.952000	0.60782	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GCG		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		55	101	0	0	0	1	0	55	101					T	167645509	C	T	167645509	3	4	391	1	0	0	0	0	1	0	0	0	10835	768	27	1	4676	1	ODZ2	5	167645509	Missense_Mutation	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		167645509	13269751	4	6675											
HIST1H1C	3006	broad.mit.edu	37	6	26056142	26056142	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr6:26056142T>C	ENST00000343677.2	-	1	557	c.515A>G	c.(514-516)aAg>aGg	p.K172R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	172					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTTTGGGCTCTTAGCCACTTT	0.562																																						uc003nfw.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(514-516)aAg>aGg		Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.							98	110	106					6																	26056142		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056142T>C	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.515A>G	6.37:g.26056142T>C	ENSP00000339566:p.Lys172Arg		Somatic					p.K172R	NM_005319	NP_005310	WXS	Illumina GAIIx	Phase_I	P16403	H12_HUMAN			0	558	-			172					A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.515A>G	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.481133	0.26598	.	.	ENSG00000187837	ENST00000343677	T	0.20738	2.05	5.3	5.3	0.74995	.	0.182554	0.46145	D	0.000303	T	0.16171	0.0389	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.16364	-1.0405	10	0.18710	T	0.47	-6.1029	14.6987	0.69142	0.0:0.0:0.0:1.0	.	172	P16403	H12_HUMAN	R	172	ENSP00000339566:K172R	ENSP00000339566:K172R	K	-	2	0	HIST1H1C	26164121	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	5.860000	0.69546	2.133000	0.65898	0.528000	0.53228	AAG		0.562	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		5	83	0	0	0	1	0	5	83					C	26056142	T	C	26056142	3	2	391	1	0	0	0	0	1	0	0	0	7124	1609	56	3	130	3	HIST1H1C	6	26056142	Missense_Mutation	SNP	T	TCGA-J8-A4HW-01A-11D-A257-08		26056142	145058925	5	6676	6	2									
HIST1H1C	3006	broad.mit.edu	37	6	26056144	26056144	+	Silent	SNP	A	A	G	rs574717130		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr6:26056144A>G	ENST00000343677.2	-	1	555	c.513T>C	c.(511-513)gcT>gcC	p.A171A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	171					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTGGGCTCTTAGCCACTTTCT	0.567													A|||	1	0.000199681	0	0	5008	,	,		15226	0		0	False		,,,				2504	0.001					uc003nfw.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(511-513)gcT>gcC		Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.							97	110	105					6																	26056144		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056144A>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.513T>C	6.37:g.26056144A>G			Somatic					p.A171A	NM_005319	NP_005310	WXS	Illumina GAIIx	Phase_I	P16403	H12_HUMAN			0	556	-			171					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.513T>C	CCDS4577.1																																																																																				0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		5	87	0	0	0	1	0	5	87					G	26056144	A	G	26056144	2	3	391	1	0	0	0	0	0	0	0	1	7124	407	15	3		3	HIST1H1C	6	26056144	Silent	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08	2	26056144	145058923	6	6677	6	2									
ABCA2	20	broad.mit.edu	37	9	139904529	139904529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr9:139904529delG	ENST00000371605.3	-	41	6545	c.6398delC	c.(6397-6399)ccgfs	p.P2133fs	ABCA2_ENST00000341511.6_Frame_Shift_Del_p.P2134fs|ABCA2_ENST00000265662.5_Frame_Shift_Del_p.P2134fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2133	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCACACTGCGGGCAGTAGCC	0.706																																						uc004ckm.1																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6487-6489)ccgfs		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.							10	13	12					9																	139904529		2119	4200	6319	SO:0001589	frameshift_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904529delG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6398delC	9.37:g.139904529delG	ENSP00000360666:p.Pro2133fs		Somatic				ABCA2_uc022bpy.1_Frame_Shift_Del_p.P2064fs|ABCA2_uc022bpz.1_Frame_Shift_Del_p.P2134fs|ABCA2_uc011mem.1_Frame_Shift_Del_p.P2133fs|ABCA2_uc004ckl.1_Frame_Shift_Del_p.P2064fs|ABCA2_uc022bqa.1_5'Flank	p.P2163fs	NM_212533	NP_997698	WXS	Illumina GAIIx	Phase_I	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	41	6538	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2133			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Frame_Shift_Del	DEL	ENST00000371605.3	37	c.6488delC																																																																																					0.706	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		2	4						2	4	---	---	---	---	-	139904529	G	-	139904529	7	5	391	1	0	1	0	1	0	0	0	0	32	1116	39	0	941	0	ABCA2	9	139904529	Frame_Shift_Del	DEL	G	TCGA-J8-A4HW-01A-11D-A257-08		139904529	1308902	7	6678											
NUDT5	11164	broad.mit.edu	37	10	12228270	12228270	+	Silent	SNP	C	C	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr10:12228270C>T	ENST00000491614.1	-	2	416	c.21G>A	c.(19-21)acG>acA	p.T7T	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378940.3_Silent_p.T7T|NUDT5_ENST00000378937.3_Silent_p.T7T|NUDT5_ENST00000378927.3_Silent_p.T7T|NUDT5_ENST00000537776.1_Silent_p.T7T			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	7					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GAGAAGATTCCGTTGGTTCTT	0.398																																						uc001ilj.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(19-21)acG>acA		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA.							176	166	169					10																	12228270		2203	4300	6503	SO:0001819	synonymous_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12228270C>T	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.21G>A	10.37:g.12228270C>T			Somatic					p.T7T	NM_014142	NP_054861	WXS	Illumina GAIIx	Phase_I	Q9UKK9	NUDT5_HUMAN			1	437	-		Renal(717;0.228)	7					A8K516|Q6IAG0|Q9UH49	Silent	SNP	ENST00000491614.1	37	c.21G>A	CCDS7089.1																																																																																				0.398	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			8	45	0	0	0	1	0	8	45					T	12228270	C	T	12228270	2	4	391	1	0	0	0	0	0	0	0	1	10742	639	23	1		1	NUDT5	10	12228270	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		12228270	123306477	8	6679											
OR5L1	219437	broad.mit.edu	37	11	55579307	55579307	+	Missense_Mutation	SNP	G	G	A	rs112907233	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr11:55579307G>A	ENST00000333973.2	+	1	454	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	122						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(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTATGACCGCTTTGTGGCC	0.522																																						uc001nhw.1																			0		p.R122G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.		G	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	209	173	185		365	2.3	0.4	11	dbSNP_132	185	0,8592		0,0,4296	yes	missense	OR5L1	NM_001004738.1	29	0,2,6494	AA,AG,GG		0.0,0.0455,0.0154	benign	122/312	55579307	2,12990	2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579307G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.365G>A	11.37:g.55579307G>A	ENSP00000335529:p.Arg122His		Somatic					p.R122H	NM_001004738	NP_001004738	WXS	Illumina GAIIx	Phase_I	Q8NGL2	OR5L1_HUMAN			0	365	+		all_epithelial(135;0.208)	122					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.365G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009204	0.54361	4.55E-4	0.0	ENSG00000186117	ENST00000333973	T	0.77489	-1.1	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.129928	0.35772	N	0.002992	T	0.77096	0.4080	M	0.85630	2.765	0.27008	N	0.96474	B	0.13145	0.007	B	0.15484	0.013	T	0.70328	-0.4902	10	0.66056	D	0.02	-18.8028	8.8218	0.35030	0.1891:0.0:0.8109:0.0	.	122	Q8NGL2	OR5L1_HUMAN	H	122	ENSP00000335529:R122H	ENSP00000335529:R122H	R	+	2	0	OR5L1	55335883	1.000000	0.71417	0.404000	0.26397	0.975000	0.68041	5.283000	0.65621	0.254000	0.21573	0.435000	0.28638	CGC		0.522	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		40	88	0	0	0	1	0	40	88					A	55579307	G	A	55579307	3	1	391	1	0	0	0	0	1	0	0	0	11170	1087	38	1	367	1	OR5L1	11	55579307	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08		55579307	79427209	9	6680											
OAS2	4939	broad.mit.edu	37	12	113425106	113425106	+	Silent	SNP	C	C	T	rs369863340	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:113425106C>T	ENST00000342315.4	+	2	655	c.441C>T	c.(439-441)aaC>aaT	p.N147N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Silent_p.N147N|OAS2_ENST00000392583.2_Silent_p.N147N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	147	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGCCTTCAACGCTCTGAGTA	0.493													C|||	2	0.000399361	0	0.0014	5008	,	,		19067	0		0	False		,,,				2504	0.001				Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(439-441)aaC>aaT		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.		C	,,	0,4406		0,0,2203	48	51	50		441,441,441	-6.3	0.1	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	147/173,147/688,147/720	113425106	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	g.chr12:113425106C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.441C>T	12.37:g.113425106C>T			Somatic				OAS2_uc001tuh.3_Silent_p.N147N|OAS2_uc001tui.1_Silent_p.N147N	p.N147N	NM_016817	NP_058197	WXS	Illumina GAIIx	Phase_I	P29728	OAS2_HUMAN			1	581	+			147			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.441C>T	CCDS31906.1																																																																																				0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			21	19	0	0	0	1	0	21	19					T	113425106	C	T	113425106	2	4	391	1	0	0	0	0	0	0	0	1	10800	535	19	1		1	OAS2	12	113425106	Silent	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		113425106	20426789	10	6681											
DNAH10	196385	broad.mit.edu	37	12	124332605	124332605	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:124332605G>T	ENST00000409039.3	+	32	5583	c.5558G>T	c.(5557-5559)tGt>tTt	p.C1853F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1853	AAA 1. {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)		GGCTTGCTCTGTGTTGTCACC	0.587																																						uc001uft.4																			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.(5557-5559)tGt>tTt		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							128	130	129					12																	124332605		2038	4210	6248	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332605G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5558G>T	12.37:g.124332605G>T	ENSP00000386770:p.Cys1853Phe		Somatic					p.C1853F	NM_207437	NP_997320	WXS	Illumina GAIIx	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	31	5583	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1853			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5558G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820985	0.90873	.	.	ENSG00000197653	ENST00000409039	T	0.34072	1.38	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);	0.064266	0.64402	U	0.000004	T	0.67942	0.2947	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72956	-0.4134	10	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1853	Q8IVF4	DYH10_HUMAN	F	1853	ENSP00000386770:C1853F	ENSP00000386770:C1853F	C	+	2	0	DNAH10	122898558	1.000000	0.71417	0.949000	0.38748	0.867000	0.49689	9.853000	0.99521	2.678000	0.91216	0.555000	0.69702	TGT		0.587	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			33	51	0	0	0	1	0	33	51					T	124332605	G	T	124332605	3	4	391	1	0	0	0	0	1	0	0	0	4598	1377	48	4	5684	4	DNAH10	12	124332605	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08	10907499	124332605	9519290	11	6682											
CYP19A1	1588	broad.mit.edu	37	15	51520089	51520089	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr15:51520089C>A	ENST00000396402.1	-	4	491	c.338G>T	c.(337-339)aGc>aTc	p.S113I	CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	113					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|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)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GAATCGAGAGCTGTAATGATT	0.443																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.4																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(337-339)aGc>aTc		Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						133	112	119					15																	51520089		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51520089C>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.338G>T	15.37:g.51520089C>A	ENSP00000379683:p.Ser113Ile		Somatic				CYP19A1_uc001zza.4_Missense_Mutation_p.S113I|CYP19A1_uc001zzb.2_Missense_Mutation_p.S113I|CYP19A1_uc001zzd.3_Missense_Mutation_p.S113I|CYP19A1_uc010bey.1_Missense_Mutation_p.S113I	p.S113I	NM_031226	NP_112503	WXS	Illumina GAIIx	Phase_I	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	4	589	-			113					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.338G>T	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159110	0.09236	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.81	-9.54	0.00572	.	0.681915	0.16246	N	0.222910	T	0.24275	0.0588	N	0.00707	-1.245	0.09310	N	1	B;B	0.25521	0.128;0.023	B;B	0.31869	0.137;0.073	T	0.41270	-0.9518	10	0.31617	T	0.26	-0.0022	5.4555	0.16588	0.2518:0.4947:0.1664:0.0871	.	113;113	Q8IYJ7;P11511	.;CP19A_HUMAN	I	113	ENSP00000379683:S113I;ENSP00000260433:S113I;ENSP00000379685:S113I;ENSP00000390614:S113I;ENSP00000383930:S113I;ENSP00000391139:S113I;ENSP00000384389:S113I	ENSP00000260433:S113I	S	-	2	0	CYP19A1	49307381	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.057000	0.14279	-1.675000	0.01459	-1.014000	0.02459	AGC		0.443	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			14	27	0	0	0	1	0	14	27					A	51520089	C	A	51520089	3	1	391	1	0	0	0	0	1	0	0	0	4148	797	28	4	1201	4	CYP19A1	15	51520089	Missense_Mutation	SNP	C	TCGA-J8-A4HW-01A-11D-A257-08		51520089	51011303	12	6683											
DNAH17	8632	broad.mit.edu	37	17	76565292	76565292	+	Missense_Mutation	SNP	A	A	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr17:76565292A>T	ENST00000585328.1	-	9	1364	c.1240T>A	c.(1240-1242)Ttt>Att	p.F414I	DNAH17_ENST00000389840.5_Missense_Mutation_p.F414I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	414	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)			ATCCTGGAAAAGGCAAGAGAA	0.478																																						uc010dhp.2																			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.(1240-1242)Ttt>Att		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							65	65	65					17																	76565292		2203	4299	6502	SO:0001583	missense	8632							g.chr17:76565292A>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1240T>A	17.37:g.76565292A>T	ENSP00000465516:p.Phe414Ile		Somatic				DNAH17_uc002jvv.2_Missense_Mutation_p.F116I	p.F414I	NM_173628	NP_775899	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	1365	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1240T>A		.	.	.	.	.	.	.	.	.	.	A	15.96	2.987577	0.53934	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.60040	0.22	4.99	4.99	0.66335	.	0.713712	0.11933	N	0.515546	T	0.80581	0.4650	M	0.90198	3.095	0.36912	D	0.89094	D	0.89917	1.0	D	0.87578	0.998	D	0.83809	0.0240	10	0.87932	D	0	.	12.9129	0.58190	1.0:0.0:0.0:0.0	.	116	Q9UFH2-4	.	I	414	ENSP00000374490:F414I	ENSP00000300671:F414I	F	-	1	0	DNAH17	74076887	0.998000	0.40836	0.755000	0.31263	0.068000	0.16541	4.815000	0.62634	1.878000	0.54408	0.459000	0.35465	TTT		0.478	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	11	0	0	0	1	0	4	11					T	76565292	A	T	76565292	3	4	391	1	0	0	0	0	1	0	0	0	4601	72	3	5	12440	5	DNAH17	17	76565292	Missense_Mutation	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08		76565292	4629918	13	6684											
C21orf2	755	broad.mit.edu	37	21	45753014	45753014	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr21:45753014A>G	ENST00000339818.4	-	4	482	c.275T>C	c.(274-276)cTg>cCg	p.L92P	AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.L92P|C21orf2_ENST00000397956.3_Missense_Mutation_p.L92P|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	92					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GGCCAGCCACAGCACCCGCAG	0.687																																						uc002zeq.2																			0				endometrium(2)	2						c.(274-276)cTg>cCg		Homo sapiens chromosome 21 open reading frame 2 (C21orf2), mRNA.							15	17	17					21																	45753014		2190	4265	6455	SO:0001583	missense	755							g.chr21:45753014A>G	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.275T>C	21.37:g.45753014A>G	ENSP00000344566:p.Leu92Pro		Somatic				C21orf2_uc002zeo.1_Missense_Mutation_p.L51P|C21orf2_uc002zep.2_Missense_Mutation_p.L92P|C21orf2_uc002zer.2_Missense_Mutation_p.L92P	p.L92P	NM_004928	NP_004919	WXS	Illumina GAIIx	Phase_I	O43822	CU002_HUMAN		Colorectal(79;0.0806)	3	483	-			92					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	c.275T>C	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681739	0.88542	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.57273	0.41;0.41;0.41	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.76912	0.4054	M	0.90922	3.16	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;0.997;0.999;0.999	T	0.82317	-0.0517	10	0.87932	D	0	-25.9191	12.5218	0.56065	1.0:0.0:0.0:0.0	.	92;92;92;51	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	P	92;128;92;92	ENSP00000344566:L92P;ENSP00000381047:L92P;ENSP00000317302:L92P	ENSP00000317302:L92P	L	-	2	0	C21orf2	44577442	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.732000	0.74790	2.009000	0.58944	0.533000	0.62120	CTG		0.687	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		3	11	0	0	0	1	0	3	11					G	45753014	A	G	45753014	3	3	391	1	0	0	0	0	1	0	0	0	2123	188	7	3	511	3	C21orf2	21	45753014	Missense_Mutation	SNP	A	TCGA-J8-A4HW-01A-11D-A257-08		45753014	2376881	14	6685											
MED15	51586	broad.mit.edu	37	22	20891439	20891439	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr22:20891439G>T	ENST00000263205.7	+	2	173	c.104G>T	c.(103-105)aGt>aTt	p.S35I	MED15_ENST00000425759.2_5'UTR|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S35I|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000406969.1_Missense_Mutation_p.S9I|MED15_ENST00000382974.2_Missense_Mutation_p.S35I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	35	Interaction with SREBF1.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGGCACACAGTAAATCCAGC	0.552																																						uc002zsp.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(103-105)aGt>aTt		Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.							180	153	162					22																	20891439		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20891439G>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.104G>T	22.37:g.20891439G>T	ENSP00000263205:p.Ser35Ile		Somatic				MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Missense_Mutation_p.S35I|MED15_uc002zsq.3_Missense_Mutation_p.S35I|MED15_uc010gso.3_Missense_Mutation_p.S35I|MED15_uc002zsr.3_Missense_Mutation_p.S9I|MED15_uc011ahs.2_Missense_Mutation_p.S9I|MED15_uc011aht.1_Missense_Mutation_p.S9I	p.S35I	NM_001003891	NP_001003891	WXS	Illumina GAIIx	Phase_I	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		1	184	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	35			Interaction with SREBF1.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.104G>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313692	0.40996	.	.	ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000432052;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000438962;ENST00000445189;ENST00000542312;ENST00000451058	.	.	.	5.7	3.63	0.41609	Mediator complex, subunit Med15, metazoa (1);	0.205257	0.49916	D	0.000133	T	0.50377	0.1612	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.50369	0.934;0.919;0.919;0.934;0.899	P;P;P;P;P	0.49637	0.617;0.483;0.483;0.617;0.466	T	0.53507	-0.8429	9	0.87932	D	0	.	5.315	0.15850	0.1748:0.1689:0.6563:0.0	.	54;9;35;35;35	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;MED15_HUMAN;.	I	9;9;9;35;35;9;35;9;109;9;9;9	.	ENSP00000263205:S35I	S	+	2	0	MED15	19221439	0.998000	0.40836	1.000000	0.80357	0.640000	0.38277	0.383000	0.20651	1.426000	0.47256	0.655000	0.94253	AGT		0.552	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		14	27	0	0	0	1	0	14	27					T	20891439	G	T	20891439	3	4	391	1	0	0	0	0	1	0	0	0	9433	1029	36	4	110	4	MED15	22	20891439	Missense_Mutation	SNP	G	TCGA-J8-A4HW-01A-11D-A257-08		20891439	30413127	15	6686											
ZFP36L2	678	broad.mit.edu	37	2	43452123	43452123	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:43452123G>A	ENST00000282388.3	-	2	1113	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	274					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCGACTCGAGGCCGCCCGGG	0.731																																						uc002rsv.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(820-822)Ctc>Ttc		Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.							13	23	20					2																	43452123		2167	4224	6391	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452123G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.820C>T	2.37:g.43452123G>A	ENSP00000282388:p.Leu274Phe		Somatic				LOC100129726_uc010ynx.1_5'Flank	p.L274F	NM_006887	NP_008818	WXS	Illumina GAIIx	Phase_I	P47974	TISD_HUMAN			1	1111	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	274					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.820C>T	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921535	0.33908	.	.	ENSG00000152518	ENST00000282388	T	0.53423	0.62	3.91	2.04	0.26737	.	0.121256	0.32819	N	0.005613	T	0.42154	0.1190	L	0.27053	0.805	0.80722	D	1	D	0.54207	0.965	P	0.54100	0.742	T	0.18209	-1.0344	10	0.46703	T	0.11	-13.2704	7.2838	0.26326	0.094:0.0:0.7383:0.1677	.	274	P47974	TISD_HUMAN	F	274	ENSP00000282388:L274F	ENSP00000282388:L274F	L	-	1	0	ZFP36L2	43305627	1.000000	0.71417	0.986000	0.45419	0.036000	0.12997	4.707000	0.61852	0.231000	0.21079	-0.258000	0.10820	CTC		0.731	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		26	17	0	0	0	1	0	26	17					A	43452123	G	A	43452123	3	1	392	1	0	0	0	0	1	0	0	0	17644	1000	35	2	668	2	ZFP36L2	2	43452123	Missense_Mutation	SNP	G	TCGA-KS-A41J-01A-11D-A23M-08		43452123	199747250	1	6687											
ATP6V1B1	525	broad.mit.edu	37	2	71187160	71187160	+	Silent	SNP	C	C	T	rs545034098		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:71187160C>T	ENST00000234396.4	+	6	610	c.537C>T	c.(535-537)cgC>cgT	p.R179R	ATP6V1B1_ENST00000412314.1_Silent_p.R179R|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	179					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.R179R(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCATTGCCCGCGGCCAGAAGA	0.627																																						uc002shj.3																			1	Substitution - coding silent(1)	p.R179R(2)	endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(535-537)cgC>cgT		Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.							67	64	65					2																	71187160		2203	4300	6503	SO:0001819	synonymous_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71187160C>T	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.537C>T	2.37:g.71187160C>T			Somatic				ATP6V1B1_uc002shi.1_Silent_p.R179R|ATP6V1B1_uc010fdx.3_Silent_p.R137R	p.R179R	NM_001692	NP_001683	WXS	Illumina GAIIx	Phase_I	P15313	VATB1_HUMAN			5	624	+			179					Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	c.537C>T	CCDS1912.1																																																																																				0.627	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		27	55	0	0	0	1	0	27	55					T	71187160	C	T	71187160	2	4	392	1	0	0	0	0	0	0	0	1	1178	755	27	1		1	ATP6V1B1	2	71187160	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	27735037	71187160	172012213	2	6688											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	42	0	0	0	1	0	35	42					T	140453136	A	T	140453136	3	4	392	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A41J-01A-11D-A23M-08		140453136	18685527	3	6689											
OR5T2	219464	broad.mit.edu	37	11	56000210	56000210	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:56000210C>T	ENST00000313264.4	-	1	527	c.452G>A	c.(451-453)tGc>tAc	p.C151Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAGAGAAAGCATTCTGTGGT	0.418																																						uc010rjc.2																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(451-453)tGc>tAc		Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.							180	154	162					11																	56000210		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000210C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.452G>A	11.37:g.56000210C>T	ENSP00000323688:p.Cys151Tyr		Somatic					p.C151Y	NM_001004746	NP_001004746	WXS	Illumina GAIIx	Phase_I	Q8NGG2	OR5T2_HUMAN			0	452	-	Esophageal squamous(21;0.00448)		151					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.452G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483679	0.44147	.	.	ENSG00000181718	ENST00000313264	T	0.01685	4.69	5.07	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.150362	0.30930	U	0.008599	T	0.09468	0.0233	M	0.82132	2.575	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.02596	-1.1136	10	0.56958	D	0.05	.	11.368	0.49684	0.0:0.8461:0.0:0.1539	.	151	Q8NGG2	OR5T2_HUMAN	Y	151	ENSP00000323688:C151Y	ENSP00000323688:C151Y	C	-	2	0	OR5T2	55756786	0.000000	0.05858	0.963000	0.40424	0.706000	0.40770	0.024000	0.13555	1.267000	0.44247	0.471000	0.43371	TGC		0.418	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		59	85	0	0	0	1	0	59	85					T	56000210	C	T	56000210	3	4	392	1	0	0	0	0	1	0	0	0	11182	710	25	2	626	2	OR5T2	11	56000210	Missense_Mutation	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		56000210	79006306	4	6690											
ARHGAP8	23779	broad.mit.edu	37	22	45244819	45244819	+	Silent	SNP	C	C	T	rs202116130	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:45244819C>T	ENST00000389774.2	+	11	990	c.849C>T	c.(847-849)ccC>ccT	p.P283P	ARHGAP8_ENST00000389773.5_Silent_p.P374P|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.P462P|ARHGAP8_ENST00000517296.3_Silent_p.P462P|ARHGAP8_ENST00000356099.6_Silent_p.P252P|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.P383P|ARHGAP8_ENST00000336963.4_Silent_p.P252P	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	283	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGGGAAGCCCGTGAACTTTG	0.617													C|||	2	0.000399361	0	0.0029	5008	,	,		18545	0		0	False		,,,				2504	0					uc003bfd.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1384-1386)ccC>ccT		Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.							186	141	156					22																	45244819		2203	4300	6503	SO:0001819	synonymous_variant	553158							g.chr22:45244819C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.849C>T	22.37:g.45244819C>T			Somatic				PRR5-ARHGAP8_uc011aqi.2_Silent_p.P374P|PRR5-ARHGAP8_uc011aqj.2_Silent_p.P288P|PRR5-ARHGAP8_uc003bfi.3_Silent_p.P252P|PRR5-ARHGAP8_uc010gzv.3_Silent_p.P252P|PRR5-ARHGAP8_uc003bfj.3_Silent_p.P283P|PRR5-ARHGAP8_uc003bfk.3_Silent_p.P252P|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	p.P462P	NM_181335	NP_851852	WXS	Illumina GAIIx	Phase_I					14	1663	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.1386C>T	CCDS33664.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.751	0.139675	0.09083	.	.	ENSG00000248405	ENST00000515632	T	0.18174	2.23	3.84	-4.52	0.03472	.	0.000000	0.34879	U	0.003618	T	0.19967	0.0480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07083	-1.0791	7	0.62326	D	0.03	.	6.2884	0.21047	0.0:0.3099:0.1395:0.5506	.	.	.	.	L	306	ENSP00000425026:P306L	ENSP00000425026:P306L	P	+	2	0	PRR5-ARHGAP8	43623483	0.000000	0.05858	0.984000	0.44739	0.498000	0.33706	-3.101000	0.00604	-0.690000	0.05142	-1.520000	0.00934	CCG		0.617	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		66	97	0	0	0	1	0	66	97					T	45244819	C	T	45244819	2	4	392	1	0	0	0	0	0	0	0	1	888	639	23	1		1	ARHGAP8	22	45244819	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08		45244819	6059747	5	6691											
HDAC10	83933	broad.mit.edu	37	22	50686833	50686833	+	Silent	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:50686833C>T	ENST00000216271.5	-	11	1327	c.975G>A	c.(973-975)ccG>ccA	p.P325P	HDAC10_ENST00000448072.1_Silent_p.P275P|HDAC10_ENST00000349505.4_Silent_p.P305P|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	325					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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 deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGTGGGGCCGGGTCACCCA	0.657																																						uc003bkg.3																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(973-975)ccG>ccA		Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.							38	40	39					22																	50686833		2201	4300	6501	SO:0001819	synonymous_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding	g.chr22:50686833C>T	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.975G>A	22.37:g.50686833C>T			Somatic				HDAC10_uc010hav.3_Silent_p.P305P|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'UTR	p.P325P	NM_032019	NP_114408	WXS	Illumina GAIIx	Phase_I	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	1348	-		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)	325					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Silent	SNP	ENST00000216271.5	37	c.975G>A	CCDS14088.1																																																																																				0.657	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		8	52	0	0	0	1	0	8	52					T	50686833	C	T	50686833	2	4	392	1	0	0	0	0	0	0	0	1	7005	639	23	1		1	HDAC10	22	50686833	Silent	SNP	C	TCGA-KS-A41J-01A-11D-A23M-08	5442014	50686833	617733	6	6692											
SPTA1	6708	broad.mit.edu	37	1	158583518	158583518	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr1:158583518G>T	ENST00000368147.4	-	50	7162	c.6982C>A	c.(6982-6984)Cca>Aca	p.P2328T	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2328	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					TACCTCCCTGGATCCACAGCA	0.493																																						uc001fst.1																			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.(6982-6984)Cca>Aca		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							69	68	69					1																	158583518		1945	4133	6078	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.chr1:158583518G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6982C>A	1.37:g.158583518G>T	ENSP00000357129:p.Pro2328Thr		Somatic					p.P2328T	NM_003126	NP_003117	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			49	7181	-	all_hematologic(112;0.0378)		2328			EF-hand 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6982C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901793	0.72754	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.20463	2.07;2.07	5.1	5.1	0.69264	EF-hand-like domain (1);	0.000000	0.31989	N	0.006760	T	0.40719	0.1128	M	0.76170	2.325	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.30387	-0.9980	10	0.72032	D	0.01	.	17.2641	0.87081	0.0:0.0:1.0:0.0	.	2328	P02549	SPTA1_HUMAN	T	2328;2325	ENSP00000357130:P2328T;ENSP00000357129:P2325T	ENSP00000357129:P2325T	P	-	1	0	SPTA1	156850142	1.000000	0.71417	0.639000	0.29394	0.608000	0.37181	8.730000	0.91510	2.661000	0.90470	0.650000	0.86243	CCA		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		14	34	0	0	0	1	0	14	34					T	158583518	G	T	158583518	3	4	393	1	0	0	0	0	1	0	0	0	15115	1174	41	4	289	4	SPTA1	1	158583518	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		158583518	90667103	1	6693											
FAM124B	79843	broad.mit.edu	37	2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A	rs181816086		TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr2:225266211G>A	ENST00000409685.3	-	1	540	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000389874.3_Missense_Mutation_p.S92L	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	92										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		18416	0		0	False		,,,				2504	0					uc002vnx.3																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(274-276)tCg>tTg		Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.							60	56	57					2																	225266211		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266211G>A	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.275C>T	2.37:g.225266211G>A	ENSP00000386895:p.Ser92Leu		Somatic				FAM124B_uc002vnw.3_Missense_Mutation_p.S92L	p.S92L	NM_001122779	NP_001116251	WXS	Illumina GAIIx	Phase_I	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	0	501	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	92					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.275C>T	CCDS46527.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.33	2.502052	0.44455	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44881	0.91;0.91;0.91	5.69	4.81	0.61882	.	0.273838	0.41938	D	0.000784	T	0.27798	0.0684	N	0.22421	0.69	0.25126	N	0.990606	P;P	0.47106	0.89;0.89	B;B	0.34418	0.182;0.088	T	0.15780	-1.0425	10	0.72032	D	0.01	-1.9118	15.3105	0.74028	0.0:0.1794:0.8206:0.0	.	92;92	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	L	92	ENSP00000374524:S92L;ENSP00000386895:S92L;ENSP00000243806:S92L	ENSP00000243806:S92L	S	-	2	0	FAM124B	224974455	1.000000	0.71417	0.152000	0.22495	0.155000	0.21991	7.377000	0.79668	1.399000	0.46721	0.655000	0.94253	TCG		0.582	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		13	36	0	0	0	1	0	13	36					A	225266211	G	A	225266211	3	1	393	1	0	0	0	0	1	0	0	0	5426	1059	37	1	1191	1	FAM124B	2	225266211	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		225266211	17933162	2	6694											
BDH1	622	broad.mit.edu	37	3	197239158	197239158	+	Missense_Mutation	SNP	C	C	A			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr3:197239158C>A	ENST00000392378.2	-	7	950	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	BDH1_ENST00000441275.1_Missense_Mutation_p.G127W|BDH1_ENST00000392379.1_Missense_Mutation_p.G214W|BDH1_ENST00000358186.2_Missense_Mutation_p.G214W	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	214					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GCCTCTACCCCGAACTTGGTG	0.632																																						uc003fxr.3																			0		p.F213L(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(640-642)Ggg>Tgg		Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	NADH(DB00157)						43	44	43					3																	197239158		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197239158C>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.640G>T	3.37:g.197239158C>A	ENSP00000376183:p.Gly214Trp		Somatic				BDH1_uc003fxs.3_Missense_Mutation_p.G214W|BDH1_uc003fxu.3_Missense_Mutation_p.G214W	p.G214W	NM_203314	NP_976060	WXS	Illumina GAIIx	Phase_I	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	1042	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	214					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.640G>T	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115886	0.77323	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.3	5.3	0.74995	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96694	0.8921	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97089	0.9789	10	0.87932	D	0	.	16.8338	0.85951	0.0:1.0:0.0:0.0	.	214	Q02338	BDH_HUMAN	W	214;214;214;127;127	ENSP00000376183:G214W;ENSP00000350914:G214W;ENSP00000376184:G214W;ENSP00000411014:G127W;ENSP00000387648:G127W	ENSP00000350914:G214W	G	-	1	0	BDH1	198723555	1.000000	0.71417	0.957000	0.39632	0.414000	0.31173	7.711000	0.84669	2.634000	0.89283	0.655000	0.94253	GGG		0.632	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		20	36	0	0	0	1	0	20	36					A	197239158	C	A	197239158	3	1	393	1	0	0	0	0	1	0	0	0	1390	652	23	4	395	4	BDH1	3	197239158	Missense_Mutation	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08		197239158	783272	3	6695											
PCDHGA3	56112	broad.mit.edu	37	5	140725487	140725487	+	Silent	SNP	G	G	A			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr5:140725487G>A	ENST00000253812.6	+	1	1887	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	629	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)	p.A629A(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.701																																						uc003ljm.2																			1	Substitution - coding silent(1)	p.A629A(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1885-1887)gcG>gcA		Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.							9	14	13					5																	140725487		1964	3983	5947	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725487G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1887G>A	5.37:g.140725487G>A			Somatic				PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.A629A	p.A629A	NM_018916	NP_061739	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1887	+			631			Cadherin 6.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1887G>A	CCDS47290.1																																																																																				0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		33	67	0	0	0	1	0	33	67					A	140725487	G	A	140725487	2	1	393	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDHGA3	5	140725487	Silent	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		140725487	40189773	4	6696											
RREB1	6239	broad.mit.edu	37	6	7231362	7231362	+	Silent	SNP	C	C	T			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr6:7231362C>T	ENST00000349384.6	+	10	3344	c.3030C>T	c.(3028-3030)ggC>ggT	p.G1010G	RREB1_ENST00000379938.2_Silent_p.G1010G|RREB1_ENST00000379933.3_Silent_p.G1010G|RREB1_ENST00000334984.6_Silent_p.G1010G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1010	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTGCAGGGCCCTGTTCAGC	0.667																																						uc003mxb.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3028-3030)ggC>ggT		Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.							18	22	20					6																	7231362		2190	4266	6456	SO:0001819	synonymous_variant	6239				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231362C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3030C>T	6.37:g.7231362C>T			Somatic				RREB1_uc021yky.1_Silent_p.G1010G|RREB1_uc003mxc.3_Silent_p.G1010G|RREB1_uc010jnx.3_Silent_p.G1010G|RREB1_uc021ykz.1_Silent_p.G1010G|RREB1_uc021yla.1_Intron	p.G1010G	NM_001003699	NP_001003699	WXS	Illumina GAIIx	Phase_I	Q92766	RREB1_HUMAN			9	3522	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1010			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3030C>T	CCDS34336.1																																																																																				0.667	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	40	0	0	0	1	0	5	40					T	7231362	C	T	7231362	2	4	393	1	0	0	0	0	0	0	0	1	13679	726	26	2		2	RREB1	6	7231362	Silent	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08		7231362	163883705	5	6697											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	40	0	0	0	1	0	21	40					T	140453136	A	T	140453136	3	4	393	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I5-01A-11D-A257-08		140453136	18685527	6	6698											
DLC1	10395	broad.mit.edu	37	8	13251080	13251080	+	Silent	SNP	T	T	G			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr8:13251080T>G	ENST00000276297.4	-	4	1705	c.1296A>C	c.(1294-1296)ggA>ggC	p.G432G	DLC1_ENST00000316609.5_Silent_p.G432G|DLC1_ENST00000511869.1_Silent_p.G432G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	432					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGGTTTGGTTCCAGAATTGG	0.413																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1294-1296)ggA>ggC		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							134	133	133					8																	13251080		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251080T>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1296A>C	8.37:g.13251080T>G			Somatic				DLC1_uc003wwn.3_Silent_p.G432G|DLC1_uc011kxy.2_Silent_p.G432G	p.G432G	NM_182643	NP_872584	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			3	1740	-			432					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1296A>C	CCDS5989.1																																																																																				0.413	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		47	49	0	0	0	1	0	47	49					G	13251080	T	G	13251080	2	3	393	1	0	0	0	0	0	0	0	1	4550	1770	62	5		5	DLC1	8	13251080	Silent	SNP	T	TCGA-KS-A4I5-01A-11D-A257-08		13251080	133112942	7	6699											
COL22A1	169044	broad.mit.edu	37	8	139668161	139668161	+	Silent	SNP	C	C	T			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr8:139668161C>T	ENST00000303045.6	-	45	3758	c.3312G>A	c.(3310-3312)ggG>ggA	p.G1104G	COL22A1_ENST00000435777.1_Silent_p.G1084G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1104	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)			GATTTATGTCCCCTGGAGACA	0.388										HNSCC(7;0.00092)																												uc003yvd.3																			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.(3310-3312)ggG>ggA		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							203	206	205					8																	139668161		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139668161C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3312G>A	8.37:g.139668161C>T		HNSCC(7;0.00092)	Somatic				COL22A1_uc011ljo.2_Silent_p.G384G	p.G1104G	NM_152888	NP_690848	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		44	3759	-	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)		1104			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3312G>A	CCDS6376.1																																																																																				0.388	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	131	0	0	0	1	0	7	131					T	139668161	C	T	139668161	2	4	393	1	0	0	0	0	0	0	0	1	3681	610	22	2		2	COL22A1	8	139668161	Silent	SNP	C	TCGA-KS-A4I5-01A-11D-A257-08	126417081	139668161	6695861	8	6700											
MUC6	4588	broad.mit.edu	37	11	1030583	1030583	+	Frame_Shift_Del	DEL	G	G	-	rs369364495	byFrequency	TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:1030583delG	ENST00000421673.2	-	7	932	c.882delC	c.(880-882)cccfs	p.P294fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	294					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCACAGGCCGGGGCTCCGCC	0.706																																						uc001lsw.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(880-882)cccfs		Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.							3	4	4					11																	1030583		1614	3675	5289	SO:0001589	frameshift_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1030583delG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.882delC	11.37:g.1030583delG	ENSP00000406861:p.Pro294fs		Somatic					p.P294fs	NM_005961	NP_005952	WXS	Illumina GAIIx	Phase_I	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	933	-		all_cancers(49;3.3e-08)|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;0.229)	294					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	ENST00000421673.2	37	c.882delC	CCDS44513.1																																																																																				0.706	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		2	4						2	4	---	---	---	---	-	1030583	G	-	1030583	7	5	393	1	0	1	0	1	0	0	0	0	9980	1103	39	0	6545	0	MUC6	11	1030583	Frame_Shift_Del	DEL	G	TCGA-KS-A4I5-01A-11D-A257-08		1030583	133975933	9	6701											
FAT3	120114	broad.mit.edu	37	11	92568204	92568204	+	Missense_Mutation	SNP	G	G	C			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:92568204G>C	ENST00000298047.6	+	14	10057	c.10040G>C	c.(10039-10041)aGt>aCt	p.S3347T	FAT3_ENST00000525166.1_Missense_Mutation_p.S3197T|FAT3_ENST00000409404.2_Missense_Mutation_p.S3347T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3347	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACGTCTACAGTGCGGTTATC	0.517										TCGA Ovarian(4;0.039)																												uc001pdj.4																			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.(10039-10041)aGt>aCt		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							53	54	54					11																	92568204		1952	4155	6107	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568204G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10040G>C	11.37:g.92568204G>C	ENSP00000298047:p.Ser3347Thr	TCGA Ovarian(4;0.039)	Somatic					p.S3347T	NM_001008781	NP_001008781	WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			13	10057	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3347			Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10040G>C		.	.	.	.	.	.	.	.	.	.	G	7.110	0.575858	0.13623	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02525	4.26;4.26;4.26	5.46	5.46	0.80206	.	.	.	.	.	T	0.02888	0.0086	N	0.20328	0.56	0.80722	D	1	B	0.22800	0.075	B	0.22386	0.039	T	0.54576	-0.8273	9	0.10636	T	0.68	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3347	Q8TDW7-3	.	T	3347;3347;3197	ENSP00000298047:S3347T;ENSP00000387040:S3347T;ENSP00000432586:S3197T	ENSP00000298047:S3347T	S	+	2	0	FAT3	92207852	1.000000	0.71417	0.953000	0.39169	0.291000	0.27294	5.258000	0.65479	2.539000	0.85634	0.655000	0.94253	AGT		0.517	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	10	0	0	0	1	0	7	10					C	92568204	G	C	92568204	3	2	393	1	0	0	0	0	1	0	0	0	5691	1029	36	4	10094	4	FAT3	11	92568204	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	91537621	92568204	42438312	10	6702											
HTR3B	9177	broad.mit.edu	37	11	113815463	113815463	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr11:113815463G>A	ENST00000260191.2	+	8	1333	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	HTR3B_ENST00000537778.1_Missense_Mutation_p.R348H	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	359					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	AGGGCCCAACGTGCTGTGGTA	0.532																																						uc001pok.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(1075-1077)cGt>cAt		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.							156	129	138					11																	113815463		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113815463G>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1076G>A	11.37:g.113815463G>A	ENSP00000260191:p.Arg359His		Somatic				HTR3B_uc001pol.3_Missense_Mutation_p.R348H	p.R359H	NM_006028	NP_006019	WXS	Illumina GAIIx	Phase_I	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	1214	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	359					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.1076G>A	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638656	0.29157	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.22539	1.95;1.95	5.11	-5.21	0.02815	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.885990	0.01948	N	0.042405	T	0.08846	0.0219	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.16837	-1.0389	10	0.36615	T	0.2	4.6974	1.3729	0.02214	0.3098:0.358:0.148:0.1841	.	348;359	O95264-2;O95264	.;5HT3B_HUMAN	H	359;348	ENSP00000260191:R359H;ENSP00000443118:R348H	ENSP00000260191:R359H	R	+	2	0	HTR3B	113320673	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.468000	0.02350	-0.815000	0.04346	-0.345000	0.07892	CGT		0.532	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		29	44	0	0	0	1	0	29	44					A	113815463	G	A	113815463	3	1	393	1	0	0	0	0	1	0	0	0	7445	1145	40	1	1106	1	HTR3B	11	113815463	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08	21247259	113815463	21191053	11	6703											
PSMA4	5685	broad.mit.edu	37	15	78837982	78837982	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr15:78837982G>A	ENST00000044462.7	+	7	533	c.383G>A	c.(382-384)cGt>cAt	p.R128H	PSMA4_ENST00000559082.1_Missense_Mutation_p.R128H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000560217.1_Missense_Mutation_p.R97H|PSMA4_ENST00000558281.1_Missense_Mutation_p.R128H|PSMA4_ENST00000413382.2_Missense_Mutation_p.R57H|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558094.1_Missense_Mutation_p.R40H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AAAGGAAAACGTCCCTTTGGT	0.408																																						uc002bdu.4																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(382-384)cGt>cAt		Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.							200	198	199					15																	78837982		2196	4293	6489	SO:0001583	missense	5685				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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78837982G>A	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.383G>A	15.37:g.78837982G>A	ENSP00000044462:p.Arg128His		Somatic				PSMA4_uc010blf.3_Missense_Mutation_p.R128H|PSMA4_uc002bdv.4_Missense_Mutation_p.R57H|PSMA4_uc002bdw.4_Missense_Mutation_p.R104H|PSMA4_uc002bdx.4_Missense_Mutation_p.R57H	p.R128H	NM_002789	NP_001096138	WXS	Illumina GAIIx	Phase_I	P25789	PSA4_HUMAN			6	541	+			128					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	c.383G>A	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182317	0.94885	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.29655	1.56;1.56	6.08	5.17	0.71159	.	0.044138	0.85682	D	0.000000	T	0.72645	0.3486	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85025	0.0914	10	0.87932	D	0	-10.1268	15.4166	0.74974	0.0663:0.0:0.9337:0.0	.	128	P25789	PSA4_HUMAN	H	57;128	ENSP00000402118:R57H;ENSP00000044462:R128H	ENSP00000044462:R128H	R	+	2	0	PSMA4	76625037	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.575000	0.98187	1.586000	0.49944	0.591000	0.81541	CGT		0.408	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		46	62	0	0	0	1	0	46	62					A	78837982	G	A	78837982	3	1	393	1	0	0	0	0	1	0	0	0	12669	1145	40	1	405	1	PSMA4	15	78837982	Missense_Mutation	SNP	G	TCGA-KS-A4I5-01A-11D-A257-08		78837982	23693410	12	6704											
C17orf59	54785	broad.mit.edu	37	17	8093098	8093098	+	Missense_Mutation	SNP	A	A	C			TCGA-KS-A4I5-01A-11D-A257-08	TCGA-KS-A4I5-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af67f563-1ff5-4bde-98d3-2a8423cf3dc3	e2e7d21f-54cf-4016-9a52-93ece18ee0d6	g.chr17:8093098A>C	ENST00000389017.4	-	1	466	c.361T>G	c.(361-363)Tcc>Gcc	p.S121A	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	121										large_intestine(2)|lung(3)|urinary_tract(1)	6						CTCCCGGAGGAGGGCTTGCCC	0.731																																						uc010vut.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(361-363)Tcc>Gcc		Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.							8	9	9					17																	8093098		1795	3741	5536	SO:0001583	missense	54785							g.chr17:8093098A>C	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.361T>G	17.37:g.8093098A>C	ENSP00000373669:p.Ser121Ala		Somatic					p.S121A	NM_017622	NP_060092	WXS	Illumina GAIIx	Phase_I	Q96GS4	CQ059_HUMAN			0	467	-			121					Q53HS4|Q9NXW8	Missense_Mutation	SNP	ENST00000389017.4	37	c.361T>G	CCDS11133.2	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.936579	0.00484	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.41	2.08	0.27032	.	0.784045	0.10974	N	0.613490	T	0.12860	0.0312	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	9	0.02654	T	1	0.816	6.24	0.20785	0.4977:0.4141:0.0:0.0882	.	121	Q96GS4	CQ059_HUMAN	A	121	.	ENSP00000373669:S121A	S	-	1	0	C17orf59	8033823	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.279000	0.18771	0.247000	0.21414	-0.217000	0.12591	TCC		0.731	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		6	12	0	0	0	1	0	6	12					C	8093098	A	C	8093098	3	2	393	1	0	0	0	0	1	0	0	0	1867	304	11	5	716	5	C17orf59	17	8093098	Missense_Mutation	SNP	A	TCGA-KS-A4I5-01A-11D-A257-08		8093098	73102112	13	6705											
SLCO4C1	353189	broad.mit.edu	37	5	101599455	101599455	+	Missense_Mutation	SNP	G	G	C			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr5:101599455G>C	ENST00000310954.6	-	4	1118	c.832C>G	c.(832-834)Cct>Gct	p.P278A		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAATAGCAGGGCCTAAGATT	0.373																																						uc003knm.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(832-834)Cct>Gct		Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.							147	141	143					5																	101599455		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101599455G>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.832C>G	5.37:g.101599455G>C	ENSP00000309741:p.Pro278Ala		Somatic					p.P278A	NM_180991	NP_851322	WXS	Illumina GAIIx	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	3	1119	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	278						Missense_Mutation	SNP	ENST00000310954.6	37	c.832C>G	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134953	0.77662	.	.	ENSG00000173930	ENST00000310954	T	0.80653	-1.4	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	D	0.90933	0.7150	M	0.87682	2.9	0.44175	D	0.99698	D	0.61080	0.989	D	0.67382	0.951	D	0.92138	0.5718	10	0.72032	D	0.01	.	19.1822	0.93628	0.0:0.0:1.0:0.0	.	278	Q6ZQN7	SO4C1_HUMAN	A	278	ENSP00000309741:P278A	ENSP00000309741:P278A	P	-	1	0	SLCO4C1	101627354	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	6.781000	0.75068	2.598000	0.87819	0.650000	0.86243	CCT		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		21	41	0	0	0	1	0	21	41					C	101599455	G	C	101599455	3	2	394	1	0	0	0	0	1	0	0	0	14730	1232	43	4	1382	4	SLCO4C1	5	101599455	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		101599455	79315805	1	6706											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	50	0	0	0	1	0	12	50					T	140453136	A	T	140453136	3	4	394	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4I9-01A-11D-A257-08		140453136	18685527	2	6707											
STAR	6770	broad.mit.edu	37	8	38005761	38005761	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr8:38005761C>T	ENST00000276449.4	-	3	709	c.263G>A	c.(262-264)gGc>gAc	p.G88D	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	88	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCTAAGGATGCCCAAGGCCTT	0.582																																						uc003xkv.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(262-264)gGc>gAc		Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.							102	70	81					8																	38005761		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005761C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"StAR-related lipid transfer (START) domain containing"	11359	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 1"	600617	"steroidogenic acute regulator"			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.263G>A	8.37:g.38005761C>T	ENSP00000276449:p.Gly88Asp		Somatic					p.G88D	NM_000349	NP_000340	WXS	Illumina GAIIx	Phase_I	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	527	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	88			START.		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.263G>A	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.292698|1.292698	0.23564|0.23564	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000522050|ENST00000276449;ENST00000522753;ENST00000521236	.|T;T	.|0.77877	.|-1.13;-1.13	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Lipid-binding START (3);START-like domain (1);	.|0.176191	.|0.64402	.|D	.|0.000015	T|T	0.66665|0.66665	0.2812|0.2812	L|L	0.39898|0.39898	1.24|1.24	0.33119|0.33119	D|D	0.541502|0.541502	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.003;0.003	T|T	0.65384|0.65384	-0.6181|-0.6181	5|10	.|0.19590	.|T	.|0.45	-28.2361|-28.2361	10.145|10.145	0.42758|0.42758	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|50;88	.|E7ETA9;P49675	.|.;STAR_HUMAN	T|D	67|88;50;6	.|ENSP00000276449:G88D;ENSP00000430030:G6D	.|ENSP00000276449:G88D	A|G	-|-	1|2	0|0	STAR|STAR	38124918|38124918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	2.862000|2.862000	0.48388|0.48388	2.709000|2.709000	0.92574|0.92574	0.491000|0.491000	0.48974|0.48974	GCA|GGC		0.582	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		13	25	0	0	0	1	0	13	25					T	38005761	C	T	38005761	3	4	394	1	0	0	0	0	1	0	0	0	15253	739	26	2	614	2	STAR	8	38005761	Missense_Mutation	SNP	C	TCGA-KS-A4I9-01A-11D-A257-08		38005761	108358261	3	6708											
ZFP41	286128	broad.mit.edu	37	8	144332178	144332178	+	Missense_Mutation	SNP	A	A	C			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr8:144332178A>C	ENST00000330701.4	+	2	534	c.165A>C	c.(163-165)gaA>gaC	p.E55D	ZFP41_ENST00000520584.1_Missense_Mutation_p.E55D|ZFP41_ENST00000522452.1_Missense_Mutation_p.E55D	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	55					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGAGTCCTGAAGACGAAGAGC	0.547																																						uc003yxw.3																			0		p.P54P(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(163-165)gaA>gaC		Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.							58	64	62					8																	144332178		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332178A>C		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.165A>C	8.37:g.144332178A>C	ENSP00000327427:p.Glu55Asp		Somatic				ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.E55D	p.E55D	NM_173832	NP_776193	WXS	Illumina GAIIx	Phase_I	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		1	523	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		55					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.165A>C	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932471	0.73442	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.06849	3.25;3.25;3.25	2.82	-5.65	0.02459	.	.	.	.	.	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	P	0.43477	0.808	B	0.30179	0.112	T	0.11131	-1.0600	9	0.72032	D	0.01	-12.9248	14.9625	0.71166	0.1997:0.0:0.8003:0.0	.	55	Q8N8Y5	ZFP41_HUMAN	D	55	ENSP00000430465:E55D;ENSP00000327427:E55D;ENSP00000428966:E55D	ENSP00000327427:E55D	E	+	3	2	ZFP41	144403553	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-2.790000	0.00767	-1.743000	0.01340	-0.516000	0.04426	GAA		0.547	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		18	27	0	0	0	1	0	18	27					C	144332178	A	C	144332178	3	2	394	1	0	0	0	0	1	0	0	0	17646	69	3	5	167	5	ZFP41	8	144332178	Missense_Mutation	SNP	A	TCGA-KS-A4I9-01A-11D-A257-08	106326417	144332178	2031844	4	6709											
STARD3	10948	broad.mit.edu	37	17	37809863	37809863	+	Missense_Mutation	SNP	T	T	G			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr17:37809863T>G	ENST00000336308.5	+	2	297	c.79T>G	c.(79-81)Tcc>Gcc	p.S27A	STARD3_ENST00000394250.4_Missense_Mutation_p.S27A|STARD3_ENST00000580611.1_Missense_Mutation_p.S27A|STARD3_ENST00000578232.1_Intron|STARD3_ENST00000544210.2_Missense_Mutation_p.S27A	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	27					cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTCCTCACTGTCCCACAGCCA	0.662											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010wei.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(79-81)Tcc>Gcc		Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 2, mRNA.							78	66	70					17																	37809863		2203	4300	6503	SO:0001583	missense	10948				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37809863T>G		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.79T>G	17.37:g.37809863T>G	ENSP00000337446:p.Ser27Ala		Somatic	OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	873	STARD3_uc010weg.2_Missense_Mutation_p.S27A|STARD3_uc002hsd.3_Missense_Mutation_p.S27A|STARD3_uc002hse.3_Missense_Mutation_p.S27A|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_5'UTR	p.S27A	NM_001165937	NP_001159409	WXS	Illumina GAIIx	Phase_I	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	282	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		27					A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.79T>G	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	T	8.806	0.934008	0.18206	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	D;D;D;T	0.85629	-1.91;-2.01;-1.95;0.81	4.33	3.22	0.36961	.	0.188893	0.47852	D	0.000208	T	0.75591	0.3870	L	0.32530	0.975	0.42783	D	0.993877	P;P;B;B	0.43788	0.787;0.817;0.104;0.104	B;B;B;B	0.42343	0.384;0.369;0.079;0.079	T	0.74087	-0.3778	10	0.44086	T	0.13	.	5.741	0.18094	0.1505:0.0851:0.0:0.7644	.	27;27;27;27	F5H0G2;B4DWG5;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	A	27	ENSP00000337446:S27A;ENSP00000439869:S27A;ENSP00000377794:S27A;ENSP00000411710:S27A	ENSP00000337446:S27A	S	+	1	0	STARD3	35063389	1.000000	0.71417	0.999000	0.59377	0.123000	0.20343	1.841000	0.39240	1.742000	0.51746	0.260000	0.18958	TCC		0.662	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			17	23	0	0	0	1	0	17	23					G	37809863	T	G	37809863	3	3	394	1	0	0	0	0	1	0	0	0	15256	1667	58	5	81	5	STARD3	17	37809863	Missense_Mutation	SNP	T	TCGA-KS-A4I9-01A-11D-A257-08		37809863	43385347	5	6710											
SMURF2	64750	broad.mit.edu	37	17	62542046	62542046	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr17:62542046G>A	ENST00000262435.9	-	19	2354	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	723	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCATAGGGTGGAATGTCTATT	0.368																																						uc002jep.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(2167-2169)Cca>Tca		Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.							143	138	140					17																	62542046		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity	g.chr17:62542046G>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2167C>T	17.37:g.62542046G>A	ENSP00000262435:p.Pro723Ser		Somatic				SMURF2_uc002jeq.1_Missense_Mutation_p.P482S|SMURF2_uc002jer.1_Missense_Mutation_p.P482S	p.P723S	NM_022739	NP_073576	WXS	Illumina GAIIx	Phase_I	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		18	2555	-	Breast(5;1.32e-14)		723			HECT.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.2167C>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430305	0.62844	.	.	ENSG00000108854	ENST00000262435	T	0.70869	-0.52	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92170	0.5743	10	0.72032	D	0.01	.	14.4438	0.67336	0.0727:0.0:0.9273:0.0	.	723	Q9HAU4	SMUF2_HUMAN	S	723	ENSP00000262435:P723S	ENSP00000262435:P723S	P	-	1	0	SMURF2	59972508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.600000	0.82769	2.538000	0.85594	0.561000	0.74099	CCA		0.368	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		19	26	0	0	0	1	0	19	26					A	62542046	G	A	62542046	3	1	394	1	0	0	0	0	1	0	0	0	14820	1174	41	2	83	2	SMURF2	17	62542046	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08	24732183	62542046	18653164	6	6711											
FBLN1	2192	broad.mit.edu	37	22	45970525	45970525	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A4I9-01A-11D-A257-08	TCGA-KS-A4I9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793cb62b-2e51-4307-9d52-3335cc63054d	7e5e2a63-f999-4600-b2ef-341036a6259e	g.chr22:45970525G>A	ENST00000327858.6	+	15	1927	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	FBLN1_ENST00000348697.2_Missense_Mutation_p.R611H	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	611					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGTTCACCCGCCCTGAAGGT	0.627																																						uc003bgj.1																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1831-1833)cGc>cAc		Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.							104	63	77					22																	45970525		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45970525G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1832G>A	22.37:g.45970525G>A	ENSP00000331544:p.Arg611His		Somatic					p.R611H	NM_006486	NP_006477	WXS	Illumina GAIIx	Phase_I	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	14	1979	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	611					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1832G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149207	0.37923	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.83591	-1.65;-1.74	5.12	1.8	0.24995	.	0.581068	0.18082	N	0.152275	T	0.69115	0.3075	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.57069	-0.7874	10	0.45353	T	0.12	.	7.8422	0.29406	0.2768:0.0:0.7232:0.0	.	611	P23142	FBLN1_HUMAN	H	611	ENSP00000262723:R611H;ENSP00000331544:R611H	ENSP00000331544:R611H	R	+	2	0	FBLN1	44349189	0.916000	0.31088	0.916000	0.36221	0.894000	0.52154	0.873000	0.28052	0.143000	0.18926	0.563000	0.77884	CGC		0.627	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		5	15	0	0	0	1	0	5	15					A	45970525	G	A	45970525	3	1	394	1	0	0	0	0	1	0	0	0	5698	1087	38	1	2370	1	FBLN1	22	45970525	Missense_Mutation	SNP	G	TCGA-KS-A4I9-01A-11D-A257-08		45970525	5334041	7	6712											
PLEKHN1	84069	broad.mit.edu	37	1	902110	902113	+	Frame_Shift_Del	DEL	GCCT	GCCT	-			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:902110_902113delGCCT	ENST00000379409.2	+	2	140_143	c.110_113delGCCT	c.(109-114)ggcctgfs	p.GL37fs	PLEKHN1_ENST00000379407.3_Frame_Shift_Del_p.GL37fs|PLEKHN1_ENST00000379410.3_Frame_Shift_Del_p.GL37fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	37										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ATGTCGGCCGGCCTGCCGGGCCCC	0.74																																						uc001ace.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(109-114)ggcctgfs		Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	84069							g.chr1:902110_902113delGCCT	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.110_113delGCCT	1.37:g.902110_902113delGCCT	ENSP00000368719:p.Gly37fs		Somatic				PLEKHN1_uc001acd.3_Frame_Shift_Del_p.G37fs|PLEKHN1_uc001acf.3_Frame_Shift_Del_p.G37fs	p.G37fs	NM_032129	NP_115505	WXS	Illumina GAIIx	Phase_I	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	1	145_148	+	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)	37					Q494U2|Q5SV98|Q9H0M7	Frame_Shift_Del	DEL	ENST00000379409.2	37	c.110_113delGCCT																																																																																					0.74	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	1						5	1	---	---	---	---	-	902113	GCCT	-	902110	7	5	395	1	0	1	0	1	0	0	0	0	12083	1203	42	0	116	0	PLEKHN1	1	902110	Frame_Shift_Del	DEL	GCCT	TCGA-KS-A4IB-01A-11D-A257-08		902110	248348511	1	6713											
PDE4B	5142	broad.mit.edu	37	1	66379023	66379023	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:66379023C>T	ENST00000329654.4	+	2	213	c.26C>T	c.(25-27)aCg>aTg	p.T9M	PDE4B_ENST00000371049.3_Missense_Mutation_p.T9M	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	9					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGTGTGATGACGGTGATGGCT	0.403																																						uc001dcn.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(25-27)aCg>aTg		Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						146	134	138					1																	66379023		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66379023C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.26C>T	1.37:g.66379023C>T	ENSP00000332116:p.Thr9Met		Somatic				PDE4B_uc009war.3_5'UTR|PDE4B_uc001dco.3_Missense_Mutation_p.T9M	p.T9M	NM_001037341	NP_002591	WXS	Illumina GAIIx	Phase_I	Q07343	PDE4B_HUMAN			1	217	+			9					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.26C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442197	0.43326	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.70282	-0.47;-0.47;-0.47	4.52	4.52	0.55395	.	0.198762	0.29653	N	0.011554	T	0.67363	0.2885	N	0.22421	0.69	0.29335	N	0.866422	D	0.76494	0.999	D	0.75020	0.985	T	0.66563	-0.5892	10	0.72032	D	0.01	.	16.3203	0.82949	0.0:1.0:0.0:0.0	.	9	Q07343	PDE4B_HUMAN	M	9	ENSP00000332116:T9M;ENSP00000342637:T9M;ENSP00000360088:T9M	ENSP00000332116:T9M	T	+	2	0	PDE4B	66151611	0.959000	0.32827	0.985000	0.45067	0.856000	0.48823	3.858000	0.55979	2.514000	0.84764	0.557000	0.71058	ACG		0.403	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		14	24	0	0	0	1	0	14	24					T	66379023	C	T	66379023	3	4	395	1	0	0	0	0	1	0	0	0	11640	536	19	1	28	1	PDE4B	1	66379023	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08	65476913	66379023	182871598	2	6714											
FCRL2	79368	broad.mit.edu	37	1	157718364	157718364	+	Missense_Mutation	SNP	T	T	C			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:157718364T>C	ENST00000361516.3	-	10	1486	c.1438A>G	c.(1438-1440)Atg>Gtg	p.M480V	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	480					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCTGCTGCATGCTCCAGACC	0.458																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1438-1440)Atg>Gtg		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							125	120	122					1																	157718364		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity	g.chr1:157718364T>C	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1438A>G	1.37:g.157718364T>C	ENSP00000355157:p.Met480Val		Somatic				FCRL2_uc001frd.2_Missense_Mutation_p.M227V|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Intron	p.M480V	NM_030764	NP_110391	WXS	Illumina GAIIx	Phase_I	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		9	1497	-	all_hematologic(112;0.0378)		480					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1438A>G	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.297830	0.01364	.	.	ENSG00000132704	ENST00000361516	T	0.18016	2.24	3.67	1.17	0.20885	.	11.288600	0.00166	U	0.000006	T	0.02156	0.0067	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.34030	-0.9845	10	0.27082	T	0.32	.	4.3318	0.11067	0.2008:0.0:0.2087:0.5905	.	480;227	Q96LA5;Q96LA5-2	FCRL2_HUMAN;.	V	480	ENSP00000355157:M480V	ENSP00000355157:M480V	M	-	1	0	FCRL2	155984988	0.020000	0.18652	0.009000	0.14445	0.009000	0.06853	2.380000	0.44327	0.102000	0.17638	-0.336000	0.08194	ATG		0.458	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		47	31	0	0	0	1	0	47	31					C	157718364	T	C	157718364	3	2	395	1	0	0	0	0	1	0	0	0	5795	1464	51	3	100	3	FCRL2	1	157718364	Missense_Mutation	SNP	T	TCGA-KS-A4IB-01A-11D-A257-08	91339341	157718364	91532257	3	6715											
BSN	8927	broad.mit.edu	37	3	49691756	49691756	+	Silent	SNP	C	C	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr3:49691756C>G	ENST00000296452.4	+	5	4881	c.4767C>G	c.(4765-4767)ccC>ccG	p.P1589P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1589					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAACCCAGCCCACCACCCATG	0.627																																						uc003cxe.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4765-4767)ccC>ccG		Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.							72	66	68					3																	49691756		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691756C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4767C>G	3.37:g.49691756C>G			Somatic					p.P1589P	NM_003458	NP_003449	WXS	Illumina GAIIx	Phase_I	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	4881	+			1589					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.4767C>G	CCDS2800.1																																																																																				0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		26	50	0	0	0	1	0	26	50					G	49691756	C	G	49691756	2	3	395	1	0	0	0	0	0	0	0	1	1530	581	21	4		4	BSN	3	49691756	Silent	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		49691756	148330674	4	6716											
TFR2	7036	broad.mit.edu	37	7	100230955	100230955	+	Missense_Mutation	SNP	G	G	C			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:100230955G>C	ENST00000462107.1	-	6	910	c.623C>G	c.(622-624)cCc>cGc	p.P208R	TFR2_ENST00000223051.3_Missense_Mutation_p.P208R|TFR2_ENST00000544242.1_5'Flank|TFR2_ENST00000431692.1_Missense_Mutation_p.P208R			Q9UP52	TFR2_HUMAN	transferrin receptor 2	208					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CAGGGTGTTGGGGTGAGCCCT	0.731																																						uc003uvv.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(622-624)cCc>cGc		Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.							22	27	25					7																	100230955		2202	4299	6501	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100230955G>C	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.623C>G	7.37:g.100230955G>C	ENSP00000420525:p.Pro208Arg		Somatic				TFR2_uc010lhc.1_5'Flank|TFR2_uc003uvu.1_Missense_Mutation_p.P37R	p.P208R	NM_003227	NP_003218	WXS	Illumina GAIIx	Phase_I	Q9UP52	TFR2_HUMAN			4	692	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		208					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.623C>G	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191529	0.78902	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.45276	0.9;0.9;0.9	5.79	5.79	0.91817	.	0.266511	0.35067	N	0.003461	T	0.27663	0.0680	N	0.08118	0	0.37959	D	0.932905	B	0.13145	0.007	B	0.12156	0.007	T	0.10894	-1.0610	10	0.41790	T	0.15	-20.5372	17.515	0.87770	0.0:0.0:1.0:0.0	.	208	Q9UP52	TFR2_HUMAN	R	208	ENSP00000223051:P208R;ENSP00000413905:P208R;ENSP00000420525:P208R	ENSP00000223051:P208R	P	-	2	0	TFR2	100068891	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.857000	0.55972	2.735000	0.93741	0.561000	0.74099	CCC		0.731	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		13	15	0	0	0	1	0	13	15					C	100230955	G	C	100230955	3	2	395	1	0	0	0	0	1	0	0	0	15808	1232	43	4	1838	4	TFR2	7	100230955	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		100230955	58907708	5	6717											
CUX1	1523	broad.mit.edu	37	7	101877481	101877481	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:101877481G>T	ENST00000292535.7	+	22	3621	c.3583G>T	c.(3583-3585)Gtg>Ttg	p.V1195L	CUX1_ENST00000360264.3_Missense_Mutation_p.V1206L|CUX1_ENST00000549414.2_Missense_Mutation_p.V1173L|CUX1_ENST00000550008.2_Missense_Mutation_p.V1139L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.V1093L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.V1037L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1195					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCCAACAATGTGGAGAAGCT	0.577																																						uc003uys.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3616-3618)Gtg>Ttg		Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.							70	62	64					7																	101877481		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101877481G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3583G>T	7.37:g.101877481G>T	ENSP00000292535:p.Val1195Leu		Somatic				CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.V1195L	p.V1206L	NM_001202543	NP_001189472	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			21	3743	+			1195					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3616G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349823	0.95830	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.64438	-0.06;-0.05;-0.1;-0.1;-0.07;-0.09	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.43152	1.355	0.80722	D	1	D;D	0.67145	0.967;0.996	D;D	0.77557	0.97;0.99	T	0.76561	-0.2914	10	0.72032	D	0.01	-23.15	19.0082	0.92861	0.0:0.0:1.0:0.0	.	1195;1206	P39880;P39880-3	CUX1_HUMAN;.	L	1206;1195;1173;1139;1093;1037	ENSP00000353401:V1206L;ENSP00000292535:V1195L;ENSP00000446630:V1173L;ENSP00000447373:V1139L;ENSP00000450125:V1093L;ENSP00000451558:V1037L	ENSP00000292535:V1195L	V	+	1	0	CUX1	101664201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.486000	0.83907	0.655000	0.94253	GTG		0.577	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		30	42	0	0	0	1	0	30	42					T	101877481	G	T	101877481	3	4	395	1	0	0	0	0	1	0	0	0	4064	1377	48	4	3736	4	CUX1	7	101877481	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08	1646526	101877481	57261182	6	6718											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	37	0	0	0	1	0	16	37					T	140453136	A	T	140453136	3	4	395	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	38575655	140453136	18685527	7	6719											
TTPA	7274	broad.mit.edu	37	8	63985561	63985561	+	Missense_Mutation	SNP	C	C	A	rs368391591		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr8:63985561C>A	ENST00000260116.4	-	2	322	c.291G>T	c.(289-291)aaG>aaT	p.K97N	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	97	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GGTAGCCAGCCTTTAGGAGGC	0.383																																						uc003xux.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(289-291)aaG>aaT		Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	Vitamin E(DB00163)	C	ASN/LYS	0,4406		0,0,2203	107	112	110		291	-2.0	1.0	8		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTPA	NM_000370.3	94	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	97/279	63985561	1,13005	2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63985561C>A	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.291G>T	8.37:g.63985561C>A	ENSP00000260116:p.Lys97Asn		Somatic					p.K97N	NM_000370	NP_000361	WXS	Illumina GAIIx	Phase_I	P49638	TTPA_HUMAN			1	323	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	97			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.291G>T	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	C	8.714	0.912761	0.17907	0.0	1.16E-4	ENSG00000137561	ENST00000260116	D	0.84298	-1.83	5.8	-2.02	0.07388	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.447368	0.28140	N	0.016452	T	0.59878	0.2226	N	0.08118	0	0.24078	N	0.995952	B	0.06786	0.001	B	0.10450	0.005	T	0.45977	-0.9224	10	0.18710	T	0.47	.	1.5766	0.02626	0.295:0.3029:0.0788:0.3232	.	97	P49638	TTPA_HUMAN	N	97	ENSP00000260116:K97N	ENSP00000260116:K97N	K	-	3	2	TTPA	64148115	0.242000	0.23868	0.990000	0.47175	0.983000	0.72400	-0.341000	0.07811	-0.112000	0.11979	0.643000	0.83706	AAG		0.383	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		27	35	0	0	0	1	0	27	35					A	63985561	C	A	63985561	3	1	395	1	0	0	0	0	1	0	0	0	16733	680	24	4	561	4	TTPA	8	63985561	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		63985561	82378461	8	6720											
NSUN6	221078	broad.mit.edu	37	10	18840835	18840835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:18840835C>A	ENST00000377304.4	-	9	1406	c.988G>T	c.(988-990)Gga>Tga	p.G330*	NSUN6_ENST00000493816.1_5'Flank	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	330							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTCTCTGTCCCATTCCACTA	0.428																																						uc010qcp.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(988-990)Gga>Tga		Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.							160	130	140					10																	18840835		2203	4300	6503	SO:0001587	stop_gained	221078						RNA binding|methyltransferase activity	g.chr10:18840835C>A	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.988G>T	10.37:g.18840835C>A	ENSP00000366519:p.Gly330*		Somatic					p.G330*	NM_182543	NP_872349	WXS	Illumina GAIIx	Phase_I	Q8TEA1	NSUN6_HUMAN			8	1406	-			330					B0YJ54	Nonsense_Mutation	SNP	ENST00000377304.4	37	c.988G>T	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	C	43	10.394431	0.99397	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	.	.	.	X	330	.	ENSP00000366519:G330X	G	-	1	0	NSUN6	18880841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.276000	0.78559	2.758000	0.94735	0.561000	0.74099	GGA		0.428	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		24	56	0	0	0	1	0	24	56					A	18840835	C	A	18840835	4	1	395	1	0	0	0	0	0	1	0	0	10682	632	22	4	433	4	NSUN6	10	18840835	Nonsense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		18840835	116693912	9	6721											
RET	5979	broad.mit.edu	37	10	43601916	43601916	+	Silent	SNP	C	C	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:43601916C>T	ENST00000355710.3	+	5	1192	c.960C>T	c.(958-960)ccC>ccT	p.P320P	RET_ENST00000340058.5_Silent_p.P320P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	320					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)	CGCTGCTCCCCGGGGACACCT	0.657		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)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	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.(958-960)ccC>ccT		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)						52	43	46					10																	43601916		2203	4299	6502	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	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.chr10:43601916C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.960C>T	10.37:g.43601916C>T			Somatic				RET_uc001jak.1_Silent_p.P320P|RET_uc010qez.1_Silent_p.P66P	p.P320P	NM_020975	NP_066124	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			4	1150	+		Ovarian(717;0.0423)	320					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.960C>T	CCDS7200.1																																																																																				0.657	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		13	16	0	0	0	1	0	13	16					T	43601916	C	T	43601916	2	4	395	1	0	0	0	0	0	0	0	1	13235	639	23	1		1	RET	10	43601916	Silent	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08	24761081	43601916	91932831	10	6722											
NYNRIN	57523	broad.mit.edu	37	14	24880401	24880401	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:24880401G>A	ENST00000382554.3	+	5	2852	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	845					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGAAGAACCGGAGGGTGAGA	0.597											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wpf.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2533-2535)cGg>cAg		Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.							103	116	112					14																	24880401		2072	4202	6274	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880401G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2534G>A	14.37:g.24880401G>A	ENSP00000371994:p.Arg845Gln		Somatic	OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.R845Q	NM_025081	NP_079357	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			4	2852	+			845					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2534G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402356	0.83230	.	.	ENSG00000205978	ENST00000382554	T	0.40756	1.02	5.02	4.13	0.48395	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.37625	0.1010	N	0.04508	-0.205	0.25126	N	0.990609	D	0.71674	0.998	P	0.60473	0.875	T	0.27938	-1.0059	9	0.87932	D	0	.	10.8765	0.46915	0.0904:0.0:0.9096:0.0	.	845	Q9P2P1	NYNRI_HUMAN	Q	845	ENSP00000371994:R845Q	ENSP00000371994:R845Q	R	+	2	0	NYNRIN	23950241	0.896000	0.30565	1.000000	0.80357	0.988000	0.76386	2.251000	0.43187	1.341000	0.45600	0.467000	0.42956	CGG		0.597	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	141	0	0	0	1	0	7	141					A	24880401	G	A	24880401	3	1	395	1	0	0	0	0	1	0	0	0	10796	1116	39	1	2548	1	NYNRIN	14	24880401	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		24880401	82469139	11	6723											
HIF1A	3091	broad.mit.edu	37	14	62203750	62203750	+	Missense_Mutation	SNP	A	A	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:62203750A>G	ENST00000337138.4	+	9	1437	c.1172A>G	c.(1171-1173)aAg>aGg	p.K391R	HIF1A_ENST00000323441.6_Missense_Mutation_p.K391R|HIF1A_ENST00000539097.1_Missense_Mutation_p.K415R|HIF1A_ENST00000557538.1_Missense_Mutation_p.K332R|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.K392R|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	391	Interaction with TSGA10. {ECO:0000250}.|N-terminal VHL recognition site.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GACAAACTTAAGAAGGAACCT	0.393																																						uc021rua.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(1243-1245)aAg>aGg		Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 3, mRNA.							99	95	97					14																	62203750		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62203750A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1172A>G	14.37:g.62203750A>G	ENSP00000338018:p.Lys391Arg		Somatic				HIF1A_uc001xfq.2_Missense_Mutation_p.K391R|HIF1A_uc001xfr.2_Missense_Mutation_p.K391R|HIF1A_uc001xfs.2_Missense_Mutation_p.K392R	p.K415R	NM_001243084	NP_001230013	WXS	Illumina GAIIx	Phase_I	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	8	1473	+			391			N-terminal VHL recognition site.|ODD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.1244A>G	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	30	5.051455	0.93793	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.61392	0.23;0.23;0.11;0.2;0.22	5.99	5.99	0.97316	.	0.042952	0.85682	D	0.000000	T	0.79919	0.4529	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83482	0.0065	10	0.87932	D	0	.	16.4947	0.84236	1.0:0.0:0.0:0.0	.	392;391;391	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	R	142;332;391;392;391;332;415	ENSP00000338018:K391R;ENSP00000378446:K392R;ENSP00000323326:K391R;ENSP00000451696:K332R;ENSP00000437955:K415R	ENSP00000323326:K391R	K	+	2	0	HIF1A	61273503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.331000	0.96430	2.300000	0.77407	0.519000	0.50382	AAG		0.393	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		19	25	0	0	0	1	0	19	25					G	62203750	A	G	62203750	3	3	395	1	0	0	0	0	1	0	0	0	7103	72	3	3	1206	3	HIF1A	14	62203750	Missense_Mutation	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	37323349	62203750	45145790	12	6724											
NIPA1	123606	broad.mit.edu	37	15	23048861	23048861	+	Missense_Mutation	SNP	C	C	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:23048861C>G	ENST00000337435.4	-	5	982	c.958G>C	c.(958-960)Gag>Cag	p.E320Q	NIPA1_ENST00000561183.1_Missense_Mutation_p.E245Q|NIPA1_ENST00000538684.1_Missense_Mutation_p.E150Q|NIPA1_ENST00000437912.2_Missense_Mutation_p.E245Q	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	320					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGTTCATCTCCCCAAGGTTG	0.478																																						uc001yvc.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(958-960)Gag>Cag		Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.							85	82	83					15																	23048861		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23048861C>G	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.958G>C	15.37:g.23048861C>G	ENSP00000337452:p.Glu320Gln		Somatic				NIPA1_uc001yvd.3_Missense_Mutation_p.E150Q|NIPA1_uc001yve.3_Missense_Mutation_p.E245Q	p.E320Q	NM_144599	NP_001135747	WXS	Illumina GAIIx	Phase_I	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	4	983	-		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)	320					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.958G>C	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306024	0.40795	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;T	0.90444	-2.67;-2.42;-1.1	5.74	5.74	0.90152	.	0.254797	0.44688	D	0.000437	D	0.84088	0.5395	N	0.08118	0	0.54753	D	0.999986	B	0.27791	0.189	B	0.34991	0.193	T	0.79453	-0.1797	10	0.22109	T	0.4	-21.4344	19.9111	0.97025	0.0:1.0:0.0:0.0	.	320	Q7RTP0	NIPA1_HUMAN	Q	320;245;150	ENSP00000337452:E320Q;ENSP00000393962:E245Q;ENSP00000440957:E150Q	ENSP00000337452:E320Q	E	-	1	0	NIPA1	20600302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.933000	0.56545	2.722000	0.93159	0.591000	0.81541	GAG		0.478	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		12	31	0	0	0	1	0	12	31					G	23048861	C	G	23048861	3	3	395	1	0	0	0	0	1	0	0	0	10422	864	30	4	35	4	NIPA1	15	23048861	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		23048861	79482531	13	6725											
LRRC49	54839	broad.mit.edu	37	15	71300716	71300716	+	Splice_Site	SNP	A	A	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:71300716A>G	ENST00000260382.5	+	12	1429		c.e12-1		LRRC49_ENST00000560158.2_Splice_Site|LRRC49_ENST00000560691.1_Splice_Site|LRRC49_ENST00000560369.1_Splice_Site|LRRC49_ENST00000443425.2_Splice_Site|LRRC49_ENST00000436542.2_Splice_Site|LRRC49_ENST00000544974.2_Splice_Site	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							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						TGGGTTTTCCAGGCCTCTAGA	0.363																																						uc010ukf.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.e12-2		Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.							69	72	71					15																	71300716		2199	4296	6495	SO:0001630	splice_region_variant	54839					cytoplasm|microtubule		g.chr15:71300716A>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1170-1A>G	15.37:g.71300716A>G			Somatic				LRRC49_uc002asu.3_Splice_Site_p.G380_splice|LRRC49_uc002asx.3_Splice_Site_p.G346_splice|LRRC49_uc002asw.3_Splice_Site_p.G390_splice|LRRC49_uc002asy.3_Splice_Site_p.G96_splice|LRRC49_uc002asz.3_Splice_Site_p.G362_splice	p.G395_splice	NM_001199017	NP_001185946	WXS	Illumina GAIIx	Phase_I	Q8IUZ0	LRC49_HUMAN			12	1491	+			390					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Splice_Site	SNP	ENST00000260382.5	37	c.1185_splice	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010691	0.54361	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2509	0.60052	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC49	69087770	1.000000	0.71417	0.970000	0.41538	0.618000	0.37518	7.842000	0.86851	2.005000	0.58758	0.528000	0.53228	.		0.363	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Intron	4	37	0	0	0	1	0	4	37					G	71300716	A	G	71300716	5	3	395	1	0	0	0	0	0	0	1	0	9006	202	7	3	1214	3	LRRC49	15	71300716	Splice_Site	SNP	A	TCGA-KS-A4IB-01A-11D-A257-08	48251855	71300716	31230676	14	6726											
DNAH9	1770	broad.mit.edu	37	17	11687720	11687720	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr17:11687720C>T	ENST00000262442.4	+	41	7993	c.7925C>T	c.(7924-7926)gCg>gTg	p.A2642V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A2642V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCCGGCGTCCCTGCAG	0.547																																						uc002gne.3																			1	Substitution - Missense(1)	p.A2642V(2)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7924-7926)gCg>gTg		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							176	168	171					17																	11687720		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687720C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7925C>T	17.37:g.11687720C>T	ENSP00000262442:p.Ala2642Val		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.A1936V	p.A2642V	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	40	7993	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2642			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7925C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.356190	0.01245	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.36699	1.24;1.24	5.56	1.35	0.21983	.	0.509864	0.20467	N	0.091774	T	0.17109	0.0411	N	0.20530	0.585	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.13415	-1.0510	10	0.28530	T	0.3	.	1.0538	0.01586	0.2081:0.3493:0.2334:0.2092	.	2642	Q9NYC9	DYH9_HUMAN	V	2642;2642;1224	ENSP00000262442:A2642V;ENSP00000414874:A2642V	ENSP00000262442:A2642V	A	+	2	0	DNAH9	11628445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.101000	0.10973	0.050000	0.15949	-0.163000	0.13421	GCG		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		76	99	0	0	0	1	0	76	99					T	11687720	C	T	11687720	3	4	395	1	0	0	0	0	1	0	0	0	4608	768	27	1	8087	1	DNAH9	17	11687720	Missense_Mutation	SNP	C	TCGA-KS-A4IB-01A-11D-A257-08		11687720	69507490	15	6727											
CHEK2	11200	broad.mit.edu	37	22	29121246	29121246	+	Missense_Mutation	SNP	G	G	C			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr22:29121246G>C	ENST00000405598.1	-	4	620	c.429C>G	c.(427-429)caC>caG	p.H143Q	CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.H143Q|CHEK2_ENST00000348295.3_Missense_Mutation_p.H143Q|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000382566.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000402731.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.H186Q			O96017	CHK2_HUMAN	checkpoint kinase 2	143	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAATCCGAAAGTGTTTCTTGC	0.373			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adt.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(556-558)caC>caG	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA.							185	173	177					22																	29121246		2203	4300	6503	SO:0001583	missense	11200				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121246G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.429C>G	22.37:g.29121246G>C	ENSP00000386087:p.His143Gln		Somatic				CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.H143Q|CHEK2_uc003adu.1_Missense_Mutation_p.H143Q|CHEK2_uc003adv.1_Missense_Mutation_p.H143Q|CHEK2_uc003adx.1_5'UTR	p.H186Q	NM_001005735	NP_001005735	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			3	630	-			143					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.558C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313103	0.60414	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;D;D;D;D;D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53	5.87	3.76	0.43208	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	M	0.91818	3.245	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.997	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.987;0.966	D	0.99521	1.0958	10	0.87932	D	0	-12.4286	9.4132	0.38505	0.2164:0.0:0.7836:0.0	.	143;143;143;143;186	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	Q	143;143;143;143;143;186;143;143;174;153	ENSP00000329012:H143Q;ENSP00000372007:H143Q;ENSP00000329178:H143Q;ENSP00000385747:H143Q;ENSP00000386087:H143Q;ENSP00000372023:H186Q;ENSP00000384835:H143Q;ENSP00000397478:H143Q;ENSP00000408065:H174Q;ENSP00000381099:H153Q	ENSP00000329178:H143Q	H	-	3	2	CHEK2	27451246	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.113000	0.41902	0.808000	0.34231	0.585000	0.79938	CAC		0.373	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		39	5	0	0	0	1	0	39	5					C	29121246	G	C	29121246	3	2	395	1	0	0	0	0	1	0	0	0	3335	1020	36	4	1254	4	CHEK2	22	29121246	Missense_Mutation	SNP	G	TCGA-KS-A4IB-01A-11D-A257-08		29121246	22183320	16	6728											
ANKRD53	79998	broad.mit.edu	37	2	71206350	71206350	+	Silent	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:71206350G>A	ENST00000360589.3	+	2	328	c.294G>A	c.(292-294)caG>caA	p.Q98Q	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_Silent_p.Q98Q|ANKRD53_ENST00000457410.1_Silent_p.Q64Q|ANKRD53_ENST00000441349.1_Silent_p.Q64Q	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	98										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AGTCCGACCAGACGGCAATCG	0.682																																						uc002shl.4																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(292-294)caG>caA		Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.							59	60	59					2																	71206350		2202	4298	6500	SO:0001819	synonymous_variant	79998							g.chr2:71206350G>A	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.294G>A	2.37:g.71206350G>A			Somatic				ANKRD53_uc002shk.4_Silent_p.Q98Q	p.Q98Q	NM_001115116	NP_001108588	WXS	Illumina GAIIx	Phase_I	Q8N9V6	ANR53_HUMAN			1	495	+			98					Q8IYP8	Silent	SNP	ENST00000360589.3	37	c.294G>A	CCDS46321.1																																																																																				0.682	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		9	66	0	0	0	1	0	9	66					A	71206350	G	A	71206350	2	1	396	1	0	0	0	0	0	0	0	1	679	933	33	2		2	ANKRD53	2	71206350	Silent	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		71206350	171993023	1	6729											
SF3B1	23451	broad.mit.edu	37	2	198265531	198265531	+	Missense_Mutation	SNP	T	T	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:198265531T>A	ENST00000335508.6	-	18	2717	c.2626A>T	c.(2626-2628)Atg>Ttg	p.M876L	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	876					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)			AAATTACCCATAATTTTCTCA	0.368			Mis		myelodysplastic syndrome																																	uc002uue.3				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		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.(2626-2628)Atg>Ttg		Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.							154	151	152					2																	198265531		2202	4299	6501	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	g.chr2:198265531T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2626A>T	2.37:g.198265531T>A	ENSP00000335321:p.Met876Leu		Somatic				SNORD2_uc021vul.1_5'Flank	p.M876L	NM_012433	NP_036565	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		17	2674	-			876					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2626A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114269	0.56505	.	.	ENSG00000115524	ENST00000335508	T	0.61627	0.09	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19484	-1.0304	10	0.44086	T	0.13	.	16.0963	0.81127	0.0:0.0:0.0:1.0	.	876	O75533	SF3B1_HUMAN	L	876	ENSP00000335321:M876L	ENSP00000335321:M876L	M	-	1	0	SF3B1	197973776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.261000	0.74972	0.533000	0.62120	ATG		0.368	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			17	32	0	0	0	1	0	17	32					A	198265531	T	A	198265531	3	1	396	1	0	0	0	0	1	0	0	0	14149	1406	49	5	1320	5	SF3B1	2	198265531	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08	127059181	198265531	44933842	2	6730											
NDUFS1	4719	broad.mit.edu	37	2	207011657	207011657	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:207011657T>C	ENST00000233190.6	-	8	973	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	NDUFS1_ENST00000440274.1_Missense_Mutation_p.Y200C|NDUFS1_ENST00000455934.2_Missense_Mutation_p.Y250C|NDUFS1_ENST00000457011.1_Missense_Mutation_p.Y120C|NDUFS1_ENST00000432169.1_Missense_Mutation_p.Y125C|NDUFS1_ENST00000423725.1_Missense_Mutation_p.Y179C|NDUFS1_ENST00000449699.1_Missense_Mutation_p.Y236C	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	236					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAAAGGCATAGGGCTTAGA	0.363																																						uc010ziq.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(748-750)tAt>tGt		Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	NADH(DB00157)						122	107	112					2																	207011657		2203	4300	6503	SO:0001583	missense	4719				ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding	g.chr2:207011657T>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.707A>G	2.37:g.207011657T>C	ENSP00000233190:p.Tyr236Cys		Somatic				NDUFS1_uc002vbe.3_Missense_Mutation_p.Y236C|NDUFS1_uc010zir.2_Missense_Mutation_p.Y200C|NDUFS1_uc010zis.2_Missense_Mutation_p.Y179C|NDUFS1_uc010zit.2_Missense_Mutation_p.Y125C|NDUFS1_uc010ziu.2_Missense_Mutation_p.Y120C	p.Y250C	NM_001199984	NP_001186913	WXS	Illumina GAIIx	Phase_I	P28331	NDUS1_HUMAN			7	810	-			236					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.749A>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469212	0.84533	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.968;0.968	D	0.96939	0.9686	10	0.87932	D	0	-23.7092	16.1063	0.81225	0.0:0.0:0.0:1.0	.	125;200;250;236	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	C	236;179;120;200;250;236;125	ENSP00000233190:Y236C;ENSP00000397760:Y179C;ENSP00000400976:Y120C;ENSP00000409766:Y200C;ENSP00000392709:Y250C;ENSP00000399912:Y236C;ENSP00000409689:Y125C	ENSP00000233190:Y236C	Y	-	2	0	NDUFS1	206719902	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.197000	0.70478	0.533000	0.62120	TAT		0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		8	63	0	0	0	1	0	8	63					C	207011657	T	C	207011657	3	2	396	1	0	0	0	0	1	0	0	0	10291	1406	49	3	1524	3	NDUFS1	2	207011657	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08	8746126	207011657	36187716	3	6731											
NKIRAS1	28512	broad.mit.edu	37	3	23942418	23942418	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr3:23942418T>C	ENST00000443659.2	-	3	994	c.217A>G	c.(217-219)Aag>Gag	p.K73E	NKIRAS1_ENST00000416026.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.K73E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.K73E			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	73	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						AAATAATGCTTTGGCAGCTCC	0.408																																						uc003cck.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(217-219)Aag>Gag		Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.							158	153	155					3																	23942418		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942418T>C	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"NFKB inhibitor interacting Ras-like protein 1"			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.217A>G	3.37:g.23942418T>C	ENSP00000393785:p.Lys73Glu		Somatic				NKIRAS1_uc003ccj.3_Missense_Mutation_p.K73E	p.K73E	NM_020345	NP_065078	WXS	Illumina GAIIx	Phase_I	Q9NYS0	KBRS1_HUMAN			3	596	-			73			Interactions with NFKBIA and NFKBIB.		Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.217A>G	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728543	0.69074	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.095673	0.64402	D	0.000001	T	0.69242	0.3089	L	0.37630	1.12	0.54753	D	0.99998	P;B	0.39903	0.694;0.368	B;B	0.37387	0.248;0.201	T	0.68481	-0.5397	10	0.28530	T	0.3	-19.7204	15.3773	0.74621	0.0:0.0:0.0:1.0	.	73;73	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	E	73	ENSP00000373411:K73E;ENSP00000393785:K73E;ENSP00000392307:K73E;ENSP00000400385:K73E;ENSP00000406543:K73E;ENSP00000396063:K73E;ENSP00000415225:K73E;ENSP00000394214:K73E	ENSP00000373411:K73E	K	-	1	0	NKIRAS1	23917422	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.946000	0.63576	2.116000	0.64780	0.402000	0.26972	AAG		0.408	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		6	76	0	0	0	1	0	6	76					C	23942418	T	C	23942418	3	2	396	1	0	0	0	0	1	0	0	0	10444	1850	64	3	369	3	NKIRAS1	3	23942418	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08		23942418	174080012	4	6732											
ATG12	9140	broad.mit.edu	37	5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'UTR			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607																																						uc003krh.3																			1	Substitution - Missense(1)	p.P52L(1)	prostate(1)	endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(13-15)cCg>cTg		Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.							76	85	82					5																	115177236		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177236G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"APG12 autophagy 12-like"	609608	"Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)"	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.14C>T	5.37:g.115177236G>A	ENSP00000425107:p.Pro5Leu		Somatic				AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Missense_Mutation_p.P52L	p.P5L	NM_004707	NP_004698	WXS	Illumina GAIIx	Phase_I	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	0	313	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	5					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.14C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109715	0.56398	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	2.96	0.34315	.	0.956568	0.08681	N	0.909454	T	0.33644	0.0870	L	0.51422	1.61	0.23661	N	0.99718	D;P	0.58268	0.982;0.553	B;B	0.41723	0.365;0.054	T	0.22138	-1.0225	9	0.87932	D	0	-2.7118	8.8274	0.35063	0.0:0.1546:0.6621:0.1832	.	5;52	O94817;C1IDX9	ATG12_HUMAN;.	L	52;5;5	.	ENSP00000274459:P52L	P	-	2	0	ATG12	115205135	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.361000	0.20267	1.006000	0.39211	-0.274000	0.10170	CCG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		9	101	0	0	0	1	0	9	101					A	115177236	G	A	115177236	3	1	396	1	0	0	0	0	1	0	0	0	1090	1116	39	1	424	1	ATG12	5	115177236	Missense_Mutation	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		115177236	65738024	5	6733											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	29	0	0	0	1	0	20	29					T	140453136	A	T	140453136	3	4	396	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4EP-01A-11D-A257-08		140453136	18685527	6	6734											
OR2AT4	341152	broad.mit.edu	37	11	74800178	74800178	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr11:74800178C>T	ENST00000305159.3	-	1	621	c.581G>A	c.(580-582)tGc>tAc	p.C194Y		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTGTCAGAGCAGGAGGCCTG	0.567																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(580-582)tGc>tAc		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							60	53	56					11																	74800178		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800178C>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"GPCR / Class A : Olfactory receptors"	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.581G>A	11.37:g.74800178C>T	ENSP00000304846:p.Cys194Tyr		Somatic					p.C194Y	NM_001005285	NP_001005285	WXS	Illumina GAIIx	Phase_I	A6NND4	O2AT4_HUMAN			0	581	-			194					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.581G>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629862	0.67015	.	.	ENSG00000171561	ENST00000305159	T	0.46451	0.87	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003651	T	0.71719	0.3373	M	0.91090	3.175	0.48830	D	0.999712	D	0.76494	0.999	D	0.75020	0.985	T	0.78760	-0.2078	10	0.87932	D	0	.	16.7481	0.85478	0.0:1.0:0.0:0.0	.	194	A6NND4	O2AT4_HUMAN	Y	194	ENSP00000304846:C194Y	ENSP00000304846:C194Y	C	-	2	0	OR2AT4	74477826	0.995000	0.38212	1.000000	0.80357	0.965000	0.64279	3.301000	0.51842	2.617000	0.88574	0.650000	0.86243	TGC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		8	52	0	0	0	1	0	8	52					T	74800178	C	T	74800178	3	4	396	1	0	0	0	0	1	0	0	0	10987	710	25	2	384	2	OR2AT4	11	74800178	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		74800178	60206338	7	6735											
KIAA0748	9840	broad.mit.edu	37	12	55356225	55356225	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr12:55356225T>C	ENST00000449076.1	-	9	1589	c.1457A>G	c.(1456-1458)gAc>gGc	p.D486G	TESPA1_ENST00000316577.8_Missense_Mutation_p.D486G|TESPA1_ENST00000531122.1_Missense_Mutation_p.D348G|TESPA1_ENST00000532804.1_Missense_Mutation_p.D348G|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.D348G	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	486					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTCCTCCAAGTCAAAAGTGTC	0.512																																						uc001sgn.3																			0											c.(1456-1458)gAc>gGc		Homo sapiens KIAA0748 (KIAA0748), mRNA.							159	160	160					12																	55356225		1931	4145	6076	SO:0001583	missense	9840							g.chr12:55356225T>C	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1457A>G	12.37:g.55356225T>C	ENSP00000400892:p.Asp486Gly		Somatic				TESPA1_uc001sgl.3_Missense_Mutation_p.D348G|TESPA1_uc001sgm.3_Missense_Mutation_p.D233G|TESPA1_uc010spb.1_Missense_Mutation_p.D233G|TESPA1_uc010spc.1_Missense_Mutation_p.D348G|TESPA1_uc010spd.1_Missense_Mutation_p.D486G	p.D486G	NM_001098815	NP_001092285	WXS	Illumina GAIIx	Phase_I	A2RU30	K0748_HUMAN			8	1567	-			486					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1457A>G	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	T	6.533	0.466637	0.12402	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.59083	0.29;0.29;0.36;0.36;0.29	4.7	4.7	0.59300	.	0.141093	0.32785	N	0.005643	T	0.48840	0.1522	L	0.27053	0.805	0.09310	N	1	P	0.36048	0.534	B	0.42343	0.384	T	0.50355	-0.8838	10	0.59425	D	0.04	-10.3778	10.8387	0.46702	0.0:0.0:0.0:1.0	.	486	A2RU30	K0748_HUMAN	G	348;86;348;486;486;348	ENSP00000435622:D348G;ENSP00000432030:D348G;ENSP00000400892:D486G;ENSP00000312679:D486G;ENSP00000433098:D348G	ENSP00000312679:D486G	D	-	2	0	KIAA0748	53642492	0.021000	0.18746	0.024000	0.17045	0.037000	0.13140	0.902000	0.28459	2.330000	0.79161	0.533000	0.62120	GAC		0.512	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		7	97	0	0	0	1	0	7	97					C	55356225	T	C	55356225	3	2	396	1	0	0	0	0	1	0	0	0	8190	1667	58	3	116	3	KIAA0748	12	55356225	Missense_Mutation	SNP	T	TCGA-L6-A4EP-01A-11D-A257-08		55356225	78495670	8	6736											
YLPM1	56252	broad.mit.edu	37	14	75265980	75265980	+	Missense_Mutation	SNP	A	A	G			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr14:75265980A>G	ENST00000325680.7	+	5	4104	c.3980A>G	c.(3979-3981)gAt>gGt	p.D1327G	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1132G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1132					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGTGAACGGGATATTCCATCT	0.448																																						uc001xqj.4																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3979-3981)gAt>gGt		Homo sapiens YLP motif containing 1 (YLPM1), mRNA.							141	141	141					14																	75265980		1919	4126	6045	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265980A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3980A>G	14.37:g.75265980A>G	ENSP00000324463:p.Asp1327Gly		Somatic				YLPM1_uc001xql.4_Non-coding_Transcript	p.D1327G	NM_019589	NP_062535	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	4104	+			1132					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.3980A>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281637	0.59758	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.97	0.96955	.	0.080378	0.53938	D	0.000058	T	0.63943	0.2554	L	0.44542	1.39	0.47123	D	0.99932	D	0.59767	0.986	P	0.53912	0.737	T	0.66540	-0.5898	9	0.66056	D	0.02	-10.6323	16.5103	0.84282	1.0:0.0:0.0:0.0	.	1327	P49750-4	.	G	1327;1132;1040	.	ENSP00000238571:D1132G	D	+	2	0	YLPM1	74335733	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.774000	0.75012	2.303000	0.77524	0.439000	0.28862	GAT		0.448	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		5	70	0	0	0	1	0	5	70					G	75265980	A	G	75265980	3	3	396	1	0	0	0	0	1	0	0	0	17483	333	12	3	3998	3	YLPM1	14	75265980	Missense_Mutation	SNP	A	TCGA-L6-A4EP-01A-11D-A257-08		75265980	32083560	9	6737											
OSGIN1	29948	broad.mit.edu	37	16	83998897	83998897	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr16:83998897G>A	ENST00000343939.2	+	7	1351	c.968G>A	c.(967-969)cGc>cAc	p.R323H	OSGIN1_ENST00000393306.1_Missense_Mutation_p.R240H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R240H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	323					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						CTGTGGGCCCGCAACGTGGTC	0.697																																						uc002fha.3																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(967-969)cGc>cAc		Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.							30	35	33					16																	83998897		2197	4299	6496	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998897G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.968G>A	16.37:g.83998897G>A	ENSP00000343376:p.Arg323His		Somatic				OSGIN1_uc002fhb.3_Missense_Mutation_p.R240H|OSGIN1_uc002fhc.3_Missense_Mutation_p.R240H	p.R323H	NM_182981	NP_892026	WXS	Illumina GAIIx	Phase_I	Q9UJX0	OSGI1_HUMAN			6	968	+			323					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.968G>A		.	.	.	.	.	.	.	.	.	.	G	12.63	1.995384	0.35226	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.46819	0.86;0.86;0.86	4.8	-1.12	0.09808	.	0.490267	0.22366	N	0.061010	T	0.30479	0.0766	L	0.31476	0.935	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.04635	-1.0937	10	0.40728	T	0.16	-6.2507	9.3331	0.38034	0.6673:0.0:0.3327:0.0	.	323	Q9UJX0	OSGI1_HUMAN	H	323;240;240	ENSP00000343376:R323H;ENSP00000355374:R240H;ENSP00000376983:R240H	ENSP00000343376:R323H	R	+	2	0	OSGIN1	82556398	0.102000	0.21896	0.990000	0.47175	0.967000	0.64934	0.858000	0.27845	-0.213000	0.10094	0.467000	0.42956	CGC		0.697	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		4	55	0	0	0	1	0	4	55					A	83998897	G	A	83998897	3	1	396	1	0	0	0	0	1	0	0	0	11289	1087	38	1	994	1	OSGIN1	16	83998897	Missense_Mutation	SNP	G	TCGA-L6-A4EP-01A-11D-A257-08		83998897	6355856	10	6738											
GFAP	2670	broad.mit.edu	37	17	42987560	42987560	+	Intron	SNP	C	C	G			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr17:42987560C>G	ENST00000253408.5	-	7	1237				GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.V414L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATTGGTATAACTCGTATTGTG	0.493																																						uc002ihr.3																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1240-1242)Gtt>Ctt		Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 2, mRNA.							325	276	291					17																	42987560		1568	3582	5150	SO:0001627	intron_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987560C>G	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1171+422G>C	17.37:g.42987560C>G			Somatic				GFAP_uc002ihq.3_Intron|GFAP_uc021tyh.1_3'UTR|GFAP_uc021tyg.1_5'Flank	p.V414L	NM_001131019	NP_001124491	WXS	Illumina GAIIx	Phase_I	P14136	GFAP_HUMAN			7	1306	-		Prostate(33;0.0959)	412			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1240G>C	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973818	0.53720	.	.	ENSG00000131095	ENST00000435360	D	0.83992	-1.79	4.78	3.81	0.43845	.	.	.	.	.	T	0.69278	0.3093	N	0.14661	0.345	0.80722	D	1	B	0.21452	0.056	B	0.22152	0.038	T	0.68176	-0.5478	9	0.87932	D	0	.	9.0041	0.36100	0.0:0.902:0.0:0.098	.	414	E9PAX3	.	L	414	ENSP00000403962:V414L	ENSP00000403962:V414L	V	-	1	0	GFAP	40343086	0.999000	0.42202	0.999000	0.59377	0.990000	0.78478	1.683000	0.37638	1.612000	0.50221	0.650000	0.86243	GTT		0.493	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		36	55	0	0	0	1	0	36	55					G	42987560	C	G	42987560	1	3	396	0	1	0	0	0	0	0	0	0	6337	565	20	4		4	GFAP	17	42987560	Intron	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		42987560	38207650	11	6739											
PRPF6	57473	broad.mit.edu	37	20	62631011	62631011	+	Intron	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr20:62631011C>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.H308Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAACCCTCATCACCCGCCAGC	0.567																																						uc002yho.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(922-924)Cac>Tac		Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.							95	81	86					20																	62631011		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631011C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31703G>A	20.37:g.62631011C>T			Somatic				PRPF6_uc002yhp.3_Missense_Mutation_p.H308Y	p.H308Y	NM_012469	NP_036601	WXS	Illumina GAIIx	Phase_I	O94906	PRP6_HUMAN			7	1090	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		308					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.922C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834857	0.91036	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33654	1.4;1.4	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.043393	0.85682	D	0.000000	T	0.65460	0.2693	M	0.93638	3.44	0.80722	D	1	P;P	0.47545	0.526;0.897	B;P	0.53185	0.248;0.72	T	0.73672	-0.3909	10	0.52906	T	0.07	.	19.5492	0.95311	0.0:1.0:0.0:0.0	.	308;308	O94906-2;O94906	.;PRP6_HUMAN	Y	308	ENSP00000266079:H308Y;ENSP00000446216:H308Y	ENSP00000266079:H308Y	H	+	1	0	PRPF6	62101455	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.258000	0.78371	2.621000	0.88768	0.650000	0.86243	CAC		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		7	75	0	0	0	1	0	7	75					T	62631011	C	T	62631011	1	4	396	0	1	0	0	0	0	0	0	0	12574	826	29	2		2	PRPF6	20	62631011	Intron	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		62631011	394509	12	6740											
HUWE1	10075	broad.mit.edu	37	X	53654447	53654447	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chrX:53654447C>T	ENST00000342160.3	-	16	1860	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.R468Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.R468Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	468					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						ACATTCTTTTCGGCACAAATC	0.308																																						uc004dsp.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.(1402-1404)cGa>cAa		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							171	144	153					X																	53654447		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:53654447C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1403G>A	X.37:g.53654447C>T	ENSP00000340648:p.Arg468Gln		Somatic					p.R468Q	NM_031407	NP_113584	WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			16	1805	-			468					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1403G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.956474	0.92726	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323	T;T;T	0.73363	0.97;0.97;-0.74	4.89	4.89	0.63831	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.389433	0.22273	N	0.062240	D	0.85270	0.5658	M	0.74881	2.28	0.49687	D	0.999812	D	0.76494	0.999	D	0.68192	0.956	D	0.87234	0.2262	10	0.72032	D	0.01	.	15.999	0.80275	0.0:1.0:0.0:0.0	.	468	Q7Z6Z7	HUWE1_HUMAN	Q	468;468;468;94	ENSP00000340648:R468Q;ENSP00000262854:R468Q;ENSP00000218328:R468Q	ENSP00000218328:R468Q	R	-	2	0	HUWE1	53671172	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.096000	0.76960	2.025000	0.59659	0.534000	0.68092	CGA		0.308	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		27	47	0	0	0	1	0	27	47					T	53654447	C	T	53654447	3	4	396	1	0	0	0	0	1	0	0	0	7461	884	31	1	11993	1	HUWE1	23	53654447	Missense_Mutation	SNP	C	TCGA-L6-A4EP-01A-11D-A257-08		53654447	101616113	13	6741											
KYNU	8942	broad.mit.edu	37	2	143790821	143790821	+	Silent	SNP	T	T	G			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr2:143790821T>G	ENST00000264170.4	+	12	1230	c.972T>G	c.(970-972)ccT>ccG	p.P324P	KYNU_ENST00000409512.1_Silent_p.P324P	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGTTAATCCCTGGGGTCTGTG	0.378																																						uc010fnm.3																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(970-972)ccT>ccG		Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						268	264	265					2																	143790821		2203	4300	6503	SO:0001819	synonymous_variant	8942				NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790821T>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.972T>G	2.37:g.143790821T>G			Somatic				KYNU_uc002tvl.3_Silent_p.P324P	p.P324P	NM_001199241	NP_001186170	WXS	Illumina GAIIx	Phase_I	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1188	+			324						Silent	SNP	ENST00000264170.4	37	c.972T>G	CCDS2183.1																																																																																				0.378	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		54	97	0	0	0	1	0	54	97					G	143790821	T	G	143790821	2	3	397	1	0	0	0	0	0	0	0	1	8587	1567	55	5		5	KYNU	2	143790821	Silent	SNP	T	TCGA-L6-A4ET-01A-11D-A257-08		143790821	99408552	1	6742											
ZFYVE20	64145	broad.mit.edu	37	3	15124046	15124046	+	Missense_Mutation	SNP	A	A	T			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr3:15124046A>T	ENST00000253699.3	-	9	1281	c.668T>A	c.(667-669)gTc>gAc	p.V223D	ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V223D|ZFYVE20_ENST00000435849.3_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	223	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGAGCCATGGACACTGTTGGG	0.592																																						uc003bzm.1																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(667-669)gTc>gAc		Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.							124	90	101					3																	15124046		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15124046A>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.668T>A	3.37:g.15124046A>T	ENSP00000253699:p.Val223Asp		Somatic				ZFYVE20_uc010hek.1_Missense_Mutation_p.V223D|ZFYVE20_uc011avn.1_Intron	p.V223D	NM_022340	NP_071735	WXS	Illumina GAIIx	Phase_I	Q9H1K0	RBNS5_HUMAN			8	1282	-			223			Necessary for the correct targeting to endosomes.|Ser-rich.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.668T>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514854	0.64634	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.55930	0.49;0.49	5.79	5.79	0.91817	Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.314434	0.34046	N	0.004308	T	0.32164	0.0820	N	0.03608	-0.345	0.80722	D	1	P	0.47484	0.896	P	0.45377	0.478	T	0.21211	-1.0252	10	0.27785	T	0.31	-16.7052	10.4658	0.44607	0.9277:0.0:0.0723:0.0	.	223	Q9H1K0	RBNS5_HUMAN	D	223	ENSP00000253699:V223D;ENSP00000422551:V223D	ENSP00000253699:V223D	V	-	2	0	ZFYVE20	15099050	0.998000	0.40836	0.986000	0.45419	0.982000	0.71751	3.343000	0.52167	2.205000	0.71048	0.477000	0.44152	GTC		0.592	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		5	57	0	0	0	1	0	5	57					T	15124046	A	T	15124046	3	4	397	1	0	0	0	0	1	0	0	0	17663	275	10	5	1710	5	ZFYVE20	3	15124046	Missense_Mutation	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		15124046	182898384	2	6743											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		26	32	0	0	0	1	0	26	32					T	140453136	A	T	140453136	3	4	397	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		140453136	18685527	3	6744											
PDSS1	23590	broad.mit.edu	37	10	27035361	27035361	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr10:27035361C>A	ENST00000376215.5	+	12	1260	c.1207C>A	c.(1207-1209)Ctc>Atc	p.L403I	PDSS1_ENST00000470978.1_3'UTR|PDSS1_ENST00000376203.5_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	403					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAGAGATGCCCTCATTCAGCT	0.433																																						uc001isv.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(1207-1209)Ctc>Atc		Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.							116	99	105					10																	27035361		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27035361C>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.1207C>A	10.37:g.27035361C>A	ENSP00000365388:p.Leu403Ile		Somatic				PDSS1_uc001isw.3_3'UTR|PDSS1_uc010qdf.2_Missense_Mutation_p.L141I	p.L403I	NM_014317	NP_055132	WXS	Illumina GAIIx	Phase_I	Q5T2R2	DPS1_HUMAN			11	1253	+			403					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.1207C>A	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187057	0.94923	.	.	ENSG00000148459	ENST00000376215;ENST00000396343	T	0.80566	-1.39	5.54	5.54	0.83059	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	H	0.95539	3.685	0.80722	D	1	D;D	0.61697	0.987;0.99	D;P	0.66979	0.948;0.831	D	0.94325	0.7557	10	0.62326	D	0.03	-24.5046	19.4716	0.94965	0.0:1.0:0.0:0.0	.	141;403	B4DJY1;Q5T2R2	.;DPS1_HUMAN	I	403;364	ENSP00000365388:L403I	ENSP00000365388:L403I	L	+	1	0	PDSS1	27075367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.585000	0.87301	0.655000	0.94253	CTC		0.433	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			20	40	0	0	0	1	0	20	40					A	27035361	C	A	27035361	3	1	397	1	0	0	0	0	1	0	0	0	11693	681	24	4	1253	4	PDSS1	10	27035361	Missense_Mutation	SNP	C	TCGA-L6-A4ET-01A-11D-A257-08		27035361	108499386	4	6745											
UBE4A	9354	broad.mit.edu	37	11	118240215	118240215	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr11:118240215G>C	ENST00000431736.2	+	4	445	c.373G>C	c.(373-375)Gat>Cat	p.D125H	UBE4A_ENST00000252108.3_Missense_Mutation_p.D125H					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	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;3.28e-05)		AGAGCTAGAAGATCAAGACTG	0.428																																						uc001psv.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(373-375)Gat>Cat		Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 1, mRNA.							155	143	147					11																	118240215		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118240215G>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.373G>C	11.37:g.118240215G>C	ENSP00000387362:p.Asp125His		Somatic				UBE4A_uc001psw.3_Missense_Mutation_p.D125H	p.D125H	NM_004788	NP_004779	WXS	Illumina GAIIx	Phase_I	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	508	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	125						Missense_Mutation	SNP	ENST00000431736.2	37	c.373G>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056451	0.76074	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	.	0.098369	0.64402	D	0.000002	T	0.43831	0.1265	L	0.27053	0.805	0.80722	D	1	B;P	0.36315	0.412;0.547	B;B	0.44224	0.172;0.444	T	0.31641	-0.9936	10	0.54805	T	0.06	-12.6995	20.3931	0.98965	0.0:0.0:1.0:0.0	.	125;125	Q14139;Q14139-2	UBE4A_HUMAN;.	H	125	ENSP00000252108:D125H;ENSP00000387362:D125H	ENSP00000252108:D125H	D	+	1	0	UBE4A	117745425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.144000	0.94629	2.824000	0.97209	0.655000	0.94253	GAT		0.428	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		5	42	0	0	0	1	0	5	42					C	118240215	G	C	118240215	3	2	397	1	0	0	0	0	1	0	0	0	16879	942	33	4	383	4	UBE4A	11	118240215	Missense_Mutation	SNP	G	TCGA-L6-A4ET-01A-11D-A257-08		118240215	16766301	5	6746											
PAQR4	124222	broad.mit.edu	37	16	3019765	3019765	+	Silent	SNP	G	G	A			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr16:3019765G>A	ENST00000318782.8	+	1	520	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000293978.8_Silent_p.R30R|PAQR4_ENST00000572687.1_Silent_p.R30R|PAQR4_ENST00000574988.1_5'Flank|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	30						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCGGGTACCGGCCCGCCAGCA	0.692																																						uc002csj.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(88-90)cgG>cgA		Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.							11	13	13					16																	3019765		2046	4072	6118	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3019765G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.90G>A	16.37:g.3019765G>A			Somatic				PAQR4_uc002csk.4_Silent_p.R30R|PAQR4_uc002csl.4_Silent_p.R30R|PAQR4_uc010uwm.2_5'Flank	p.R30R	NM_152341	NP_689554	WXS	Illumina GAIIx	Phase_I	Q8N4S7	PAQR4_HUMAN			0	424	+			30					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.90G>A	CCDS10485.1																																																																																				0.692	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		10	22	0	0	0	1	0	10	22					A	3019765	G	A	3019765	2	1	397	1	0	0	0	0	0	0	0	1	11437	1190	42	2		2	PAQR4	16	3019765	Silent	SNP	G	TCGA-L6-A4ET-01A-11D-A257-08		3019765	87334988	6	6747											
SMCHD1	23347	broad.mit.edu	37	18	2728543	2728543	+	Silent	SNP	A	A	G			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr18:2728543A>G	ENST00000320876.6	+	23	3200	c.2862A>G	c.(2860-2862)ttA>ttG	p.L954L	SMCHD1_ENST00000261598.8_Silent_p.L954L|SMCHD1_ENST00000609587.1_3'UTR|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	954					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGGAAGTTTTAGATGAATCAG	0.358																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2860-2862)ttA>ttG		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							104	98	100					18																	2728543		1847	4093	5940	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2728543A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2862A>G	18.37:g.2728543A>G			Somatic				SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	p.L954L	NM_015295	NP_056110	WXS	Illumina GAIIx	Phase_I	A6NHR9	SMHD1_HUMAN			22	3051	+			954					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.2862A>G	CCDS45822.1																																																																																				0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			21	27	0	0	0	1	0	21	27					G	2728543	A	G	2728543	2	3	397	1	0	0	0	0	0	0	0	1	14788	417	15	3		3	SMCHD1	18	2728543	Silent	SNP	A	TCGA-L6-A4ET-01A-11D-A257-08		2728543	75348705	7	6748											
DNALI1	79753	broad.mit.edu	37	1	38022591	38022591	+	5'Flank	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:38022591C>T	ENST00000296215.6	-	0	0				SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000296218.7_Missense_Mutation_p.S21F|DNALI1_ENST00000541606.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ACTCTCGCCTCCGCCATGATT	0.637																																						uc001cbj.3																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(61-63)tCc>tTc		Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.							67	61	63					1																	38022591		2203	4300	6503	SO:0001631	upstream_gene_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38022591C>T		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022591C>T	Exception_encountered		Somatic				SNIP1_uc010oid.2_5'Flank|SNIP1_uc001cbi.3_5'Flank|DNALI1_uc010oie.2_Non-coding_Transcript	p.S21F	NM_003462	NP_003453	WXS	Illumina GAIIx	Phase_I	O14645	IDLC_HUMAN			0	72	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.62C>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812216	0.32053	.	.	ENSG00000163879	ENST00000296218	T	0.45276	0.9	5.07	-0.509	0.11977	.	0.985526	0.08258	N	0.973513	T	0.42154	0.1190	.	.	.	0.34660	D	0.722627	.	.	.	.	.	.	T	0.54463	-0.8290	7	0.59425	D	0.04	-0.4939	5.1608	0.15060	0.0:0.4733:0.2797:0.2469	.	.	.	.	F	21	ENSP00000296218:S21F	ENSP00000296218:S21F	S	+	2	0	DNALI1	37795178	0.401000	0.25303	0.096000	0.21009	0.039000	0.13416	0.195000	0.17155	0.012000	0.14892	0.491000	0.48974	TCC		0.637	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		6	58	0	0	0	1	0	6	58					T	38022591	C	T	38022591	1	4	398	0	1	0	0	0	0	0	0	0	4659	855	30	2		2	DNALI1	1	38022591	5'Flank	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		38022591	211228030	1	6749											
MACF1	23499	broad.mit.edu	37	1	39799522	39799522	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:39799522C>T	ENST00000372915.3	+	36	7364	c.7277C>T	c.(7276-7278)tCa>tTa	p.S2426L	MACF1_ENST00000564288.1_Missense_Mutation_p.S2421L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S861L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2458L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2426					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)			AAAAAAGTTTCAGTAACTTTG	0.433																																						uc021olw.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.(2581-2583)tCa>tTa		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							61	62	62					1																	39799522		2203	4300	6503	SO:0001583	missense	23499				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	g.chr1:39799522C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	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"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7277C>T	1.37:g.39799522C>T	ENSP00000362006:p.Ser2426Leu		Somatic				MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	p.S861L	NM_012090	NP_036222	WXS	Illumina GAIIx	Phase_I	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)		0	2582	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2426					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2582C>T		.	.	.	.	.	.	.	.	.	.	C	17.21	3.332729	0.60853	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.80480	-1.38;-1.38	5.47	5.47	0.80525	.	0.138084	0.33591	N	0.004759	D	0.90954	0.7156	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.91930	0.5554	10	0.72032	D	0.01	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	2426	Q9UPN3	MACF1_HUMAN	L	2426;861	ENSP00000362006:S2426L;ENSP00000289893:S861L	ENSP00000289893:S861L	S	+	2	0	MACF1	39572109	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.601000	0.82783	2.560000	0.86352	0.561000	0.74099	TCA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	87	0	0	0	1	0	5	87					T	39799522	C	T	39799522	3	4	398	1	0	0	0	0	1	0	0	0	9144	838	29	2	7353	2	MACF1	1	39799522	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	1776931	39799522	209451099	2	6750											
CACNA1E	777	broad.mit.edu	37	1	181767468	181767468	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:181767468C>G	ENST00000367573.2	+	48	6440	c.6440C>G	c.(6439-6441)tCt>tGt	p.S2147C	CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2104C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2098C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2128C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2036C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S2085C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1711C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2147					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCTCTGTCTCTGACACCAGC	0.592																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6439-6441)tCt>tGt		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							124	134	131					1																	181767468		2024	4177	6201	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767468C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6440C>G	1.37:g.181767468C>G	ENSP00000356545:p.Ser2147Cys		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.S2104C|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2085C	p.S2147C	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			47	6635	+			2147					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6440C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643482	0.87859	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99369	-5.6;-5.58;-4.93;-5.57;-5.78;-4.93;-4.93	5.59	5.59	0.84812	.	0.057749	0.64402	D	0.000001	D	0.99299	0.9755	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.935	D	0.99821	1.1047	10	0.87932	D	0	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	2085;2104	Q15878-2;Q15878-3	.;.	C	2104;2085;2098;2036;1711;2128;2147	ENSP00000356542:S2104C;ENSP00000434814:S2085C;ENSP00000350183:S2098C;ENSP00000351101:S2036C;ENSP00000356539:S1711C;ENSP00000353222:S2128C;ENSP00000356545:S2147C	ENSP00000350183:S2098C	S	+	2	0	CACNA1E	180034091	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.148000	0.77389	2.622000	0.88805	0.563000	0.77884	TCT		0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	182	0	0	0	1	0	13	182					G	181767468	C	G	181767468	3	3	398	1	0	0	0	0	1	0	0	0	2542	913	32	4	6497	4	CACNA1E	1	181767468	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	141967946	181767468	67483153	3	6751											
DPYSL5	56896	broad.mit.edu	37	2	27165613	27165613	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:27165613G>C	ENST00000288699.6	+	11	1593	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E479Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	479					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCAGAGAGAGAAGGTGAG	0.562											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rhu.4																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1435-1437)Gag>Cag		Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.							42	41	42					2																	27165613		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27165613G>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1435G>C	2.37:g.27165613G>C	ENSP00000288699:p.Glu479Gln		Somatic	OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_uc002rhv.4_Missense_Mutation_p.E479Q|DPYSL5_uc021vev.1_Missense_Mutation_p.E479Q	p.E479Q	NM_020134	NP_064519	WXS	Illumina GAIIx	Phase_I	Q9BPU6	DPYL5_HUMAN			10	1593	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		479					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1435G>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189773	0.78789	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.86164	-2.08;-2.08	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.148703	0.64402	D	0.000015	D	0.87613	0.6221	L	0.59436	1.845	0.53688	D	0.999979	P	0.43885	0.82	B	0.43867	0.434	D	0.85746	0.1340	10	0.34782	T	0.22	-35.3913	19.4349	0.94788	0.0:0.0:1.0:0.0	.	479	Q9BPU6	DPYL5_HUMAN	Q	479	ENSP00000288699:E479Q;ENSP00000385549:E479Q	ENSP00000288699:E479Q	E	+	1	0	DPYSL5	27019117	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.894000	0.99253	0.655000	0.94253	GAG		0.562	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		22	48	0	0	0	1	0	22	48					C	27165613	G	C	27165613	3	2	398	1	0	0	0	0	1	0	0	0	4750	943	33	4	1473	4	DPYSL5	2	27165613	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		27165613	216033760	4	6752											
LRPPRC	10128	broad.mit.edu	37	2	44174896	44174896	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:44174896C>G	ENST00000260665.7	-	19	1996	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	647					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCTTACTCTCAACCAACAAG	0.294																																						uc002rtr.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1939-1941)Gag>Cag		Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.							63	64	64					2																	44174896		2203	4288	6491	SO:0001583	missense	10128				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding	g.chr2:44174896C>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1939G>C	2.37:g.44174896C>G	ENSP00000260665:p.Glu647Gln		Somatic				LRPPRC_uc010yob.1_Missense_Mutation_p.E547Q	p.E647Q	NM_133259	NP_573566	WXS	Illumina GAIIx	Phase_I	P42704	LPPRC_HUMAN			18	1997	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	647					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1939G>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	5.951	0.359495	0.11239	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56103	0.48	5.38	4.51	0.55191	.	1.061880	0.07303	N	0.874429	T	0.41811	0.1175	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.27559	0.045;0.181	B;B	0.28638	0.007;0.092	T	0.19679	-1.0298	10	0.19147	T	0.46	-8.638	6.0762	0.19917	0.0:0.6771:0.1564:0.1665	.	547;647	F5H4J6;P42704	.;LPPRC_HUMAN	Q	547;647	ENSP00000260665:E647Q	ENSP00000260665:E647Q	E	-	1	0	LRPPRC	44028400	0.103000	0.21917	0.895000	0.35142	0.008000	0.06430	0.342000	0.19926	1.415000	0.47037	0.655000	0.94253	GAG		0.294	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		4	19	0	0	0	1	0	4	19					G	44174896	C	G	44174896	3	3	398	1	0	0	0	0	1	0	0	0	8965	835	29	4	2325	4	LRPPRC	2	44174896	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	17009283	44174896	199024477	5	6753											
C2orf73	129852	broad.mit.edu	37	2	54562140	54562141	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:54562140_54562141insA	ENST00000398634.2	+	2	255_256	c.213_214insA	c.(214-216)aaafs	p.K72fs	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	72										breast(2)	2						ACATAGATCCCAAAAAAGGGCC	0.332																																						uc002rxt.1																			0				breast(2)	2						c.(211-216)cccaaafs		Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA.																																				SO:0001589	frameshift_variant	129852							g.chr2:54562140_54562141insA	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.219dupA	2.37:g.54562146_54562146dupA	ENSP00000381631:p.Lys72fs		Somatic				C2orf73_uc010yor.1_Intron|C2orf73_uc002rxs.1_Intron|C2orf73_uc010yos.1_Intron	p.P71fs	NM_001100396	NP_001093866	WXS	Illumina GAIIx	Phase_I	Q8N5S3	CB073_HUMAN			1	255_256	+			71					A0AV79|A0AV81|Q8N7V4	Frame_Shift_Ins	INS	ENST00000398634.2	37	c.213_214insA	CCDS46285.1																																																																																				0.332	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		2	4						2	4	---	---	---	---	A	54562141	-	A	54562140	7	5	398	1	0	1	1	0	0	0	0	0	2192	581	21	0	219	0	C2orf73	2	54562140	Frame_Shift_Ins	INS	-	TCGA-L6-A4EU-01A-11D-A257-08	10387244	54562140	188637233	6	6754											
FSIP2	401024	broad.mit.edu	37	2	186672259	186672259	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:186672259G>C	ENST00000424728.1	+	17	18226	c.18226G>C	c.(18226-18228)Gat>Cat	p.D6076H	FSIP2_ENST00000343098.5_Missense_Mutation_p.D6165H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6076										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTACAATCTGATGATGATGA	0.328																																						uc002upl.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18493-18495)Gat>Cat		Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.							109	107	108					2																	186672259		1823	4073	5896	SO:0001583	missense	401024							g.chr2:186672259G>C	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18226G>C	2.37:g.186672259G>C	ENSP00000401306:p.Asp6076His		Somatic				FSIP2_uc002upm.3_Intron	p.D6165H	NM_173651	NP_775922	WXS	Illumina GAIIx	Phase_I					16	18493	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18493G>C		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649539	0.29336	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.45668	0.89;0.9	5.26	2.78	0.32641	.	0.543777	0.17945	N	0.156717	T	0.20210	0.0486	N	0.08118	0	0.24227	N	0.995417	.	.	.	.	.	.	T	0.10870	-1.0611	8	0.30078	T	0.28	.	4.9682	0.14102	0.7159:0.185:0.0991:0.0	.	.	.	.	H	6165;6076	ENSP00000344403:D6165H;ENSP00000401306:D6076H	ENSP00000344403:D6165H	D	+	1	0	FSIP2	186380504	0.254000	0.23992	0.993000	0.49108	0.362000	0.29581	1.496000	0.35638	1.026000	0.39733	-0.469000	0.05056	GAT		0.328	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		7	101	0	0	0	1	0	7	101					C	186672259	G	C	186672259	3	2	398	1	0	0	0	0	1	0	0	0	6075	1290	45	4	18559	4	FSIP2	2	186672259	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	132110119	186672259	56527114	7	6755											
UBP1	7342	broad.mit.edu	37	3	33450189	33450189	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:33450189C>T	ENST00000283629.3	-	8	1449	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.R307Q|UBP1_ENST00000447368.2_Intron	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	307					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TACACTGCCTCGCTTTGCCAG	0.448																																						uc003cfq.4																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(919-921)cGa>cAa		Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.							104	99	100					3																	33450189		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450189C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.920G>A	3.37:g.33450189C>T	ENSP00000283629:p.Arg307Gln		Somatic				UBP1_uc003cfr.4_Intron|UBP1_uc010hga.3_Missense_Mutation_p.R307Q	p.R307Q	NM_014517	NP_055332	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			7	1450	-			307					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.920G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202641	0.79127	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.17528	2.27;2.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	L	0.47716	1.5	0.58432	D	0.999991	D	0.69078	0.997	D	0.70227	0.968	T	0.00492	-1.1707	10	0.26408	T	0.33	-8.6651	18.3756	0.90435	0.0:1.0:0.0:0.0	.	307	Q9NZI7	UBIP1_HUMAN	Q	307	ENSP00000283629:R307Q;ENSP00000283628:R307Q	ENSP00000283628:R307Q	R	-	2	0	UBP1	33425193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.985000	0.76193	2.780000	0.95670	0.585000	0.79938	CGA		0.448	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		5	63	0	0	0	1	0	5	63					T	33450189	C	T	33450189	3	4	398	1	0	0	0	0	1	0	0	0	16892	884	31	1	738	1	UBP1	3	33450189	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		33450189	164572241	8	6756											
KLHDC8B	200942	broad.mit.edu	37	3	49210251	49210251	+	Missense_Mutation	SNP	A	A	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49210251A>G	ENST00000332780.2	+	2	258	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	17						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTCCCCCCCATGCCCACTTG	0.632																																						uc003cwh.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(49-51)Atg>Gtg		Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.							56	53	54					3																	49210251		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49210251A>G		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.49A>G	3.37:g.49210251A>G	ENSP00000327468:p.Met17Val		Somatic				KLHDC8B_uc003cwi.1_5'Flank	p.M17V	NM_173546	NP_775817	WXS	Illumina GAIIx	Phase_I	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	284	+			17						Missense_Mutation	SNP	ENST00000332780.2	37	c.49A>G	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770484	0.69992	.	.	ENSG00000185909	ENST00000332780	T	0.66995	-0.24	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.84683	2.71	0.80722	D	1	B	0.33266	0.404	B	0.32533	0.147	T	0.75491	-0.3299	10	0.87932	D	0	-24.1474	14.4471	0.67359	1.0:0.0:0.0:0.0	.	17	Q8IXV7	KLD8B_HUMAN	V	17	ENSP00000327468:M17V	ENSP00000327468:M17V	M	+	1	0	KLHDC8B	49185255	0.990000	0.36364	1.000000	0.80357	0.939000	0.58152	2.992000	0.49417	2.019000	0.59389	0.459000	0.35465	ATG		0.632	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		22	57	0	0	0	1	0	22	57					G	49210251	A	G	49210251	3	3	398	1	0	0	0	0	1	0	0	0	8363	217	8	3	51	3	KLHDC8B	3	49210251	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	15760062	49210251	148812179	9	6757											
MST1R	4486	broad.mit.edu	37	3	49933541	49933541	+	Splice_Site	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49933541C>T	ENST00000296474.3	-	11	2677		c.e11-1		MST1R_ENST00000344206.4_Intron	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)						cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCAATATACTGCAGAGAGG	0.577																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.e11-1		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							94	105	101					3																	49933541		2203	4300	6503	SO:0001630	splice_region_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49933541C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2650-1G>A	3.37:g.49933541C>T			Somatic				MST1R_uc011bdc.2_Intron	p.Y884_splice	NM_002447	NP_002438	WXS	Illumina GAIIx	Phase_I	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	11	2914	-			884					B5A944|B5A945|B5A946|B5A947	Splice_Site	SNP	ENST00000296474.3	37	c.2650_splice	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998827	0.35226	.	.	ENSG00000164078	ENST00000296474	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8376	0.78811	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MST1R	49908545	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	4.363000	0.59473	2.521000	0.84997	0.313000	0.20887	.		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		Intron	55	127	0	0	0	1	0	55	127					T	49933541	C	T	49933541	5	4	398	1	0	0	0	0	0	0	1	0	9891	579	20	2	1593	2	MST1R	3	49933541	Splice_Site	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	723290	49933541	148088889	10	6758											
ZNF721	170960	broad.mit.edu	37	4	436799	436801	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr4:436799_436801delGAG	ENST00000338977.5	-	2	1467_1469	c.1419_1421delCTC	c.(1417-1422)tcctca>tca	p.473_474SS>S	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_In_Frame_Del_p.485_486SS>S|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	473					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGCAAAGCTTGAGGATGAGGTAA	0.369																																						uc003gaf.4																			0											c.(1549-1554)tcctca>tca		Homo sapiens zinc finger protein 721 (ZNF721), mRNA.				2,3976		1,0,1988						0.4	0.1			78	1,8109		0,1,4054	no	coding	ZNF721	NM_133474.2		1,1,6042	A1A1,A1R,RR		0.0123,0.0503,0.0248				3,12085				SO:0001651	inframe_deletion	79963							g.chr4:436799_436801delGAG	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1419_1421delCTC	4.37:g.436799_436801delGAG	ENSP00000340524:p.Ser475del		Somatic				ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_In_Frame_Del_p.485_486SS>S|ABCA11P_uc010ibe.3_In_Frame_Del_p.473_474SS>S	p.517_518SS>S	NM_133474	NP_597731	WXS	Illumina GAIIx	Phase_I					2	1777_1779	-								Q69YG7	In_Frame_Del	DEL	ENST00000338977.5	37	c.1551_1553delCTC																																																																																					0.369	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		19	30						19	30	---	---	---	---	-	436801	GAG	-	436799	7	5	398	1	0	1	0	1	0	0	0	0	18119	1294	45	0	1318	0	ZNF721	4	436799	In_Frame_Del	DEL	GAG	TCGA-L6-A4EU-01A-11D-A257-08		436799	190717477	11	6759											
CARD6	84674	broad.mit.edu	37	5	40854171	40854171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854171C>T	ENST00000254691.5	+	3	2936	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	913					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACCTGCTTCTCAGCAAGGAGT	0.478																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2737-2739)Cag>Tag		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							97	104	102					5																	40854171		2203	4300	6503	SO:0001587	stop_gained	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854171C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2737C>T	5.37:g.40854171C>T	ENSP00000254691:p.Gln913*		Somatic					p.Q913*	NM_032587	NP_115976	WXS	Illumina GAIIx	Phase_I	Q9BX69	CARD6_HUMAN			2	2812	+			913					Q52LR2	Nonsense_Mutation	SNP	ENST00000254691.5	37	c.2737C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	40	8.311953	0.98754	.	.	ENSG00000132357	ENST00000254691	.	.	.	4.38	2.25	0.28309	.	1.143330	0.06705	N	0.772027	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	1.1857	4.5723	0.12216	0.0:0.6335:0.2097:0.1568	.	.	.	.	X	913	.	ENSP00000254691:Q913X	Q	+	1	0	CARD6	40889928	0.006000	0.16342	0.001000	0.08648	0.864000	0.49448	0.849000	0.27723	0.405000	0.25532	0.313000	0.20887	CAG		0.478	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			11	190	0	0	0	1	0	11	190					T	40854171	C	T	40854171	4	4	398	1	0	0	0	0	0	1	0	0	2650	827	29	2	2747	2	CARD6	5	40854171	Nonsense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		40854171	140061089	12	6760											
CARD6	84674	broad.mit.edu	37	5	40854298	40854298	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854298C>G	ENST00000254691.5	+	3	3063	c.2864C>G	c.(2863-2865)tCc>tGc	p.S955C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	955					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTCAAACACTCCCAGCCTAAA	0.502																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2863-2865)tCc>tGc		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							216	239	231					5																	40854298		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854298C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2864C>G	5.37:g.40854298C>G	ENSP00000254691:p.Ser955Cys		Somatic					p.S955C	NM_032587	NP_115976	WXS	Illumina GAIIx	Phase_I	Q9BX69	CARD6_HUMAN			2	2939	+			955					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2864C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553888	0.27739	.	.	ENSG00000132357	ENST00000254691	D	0.96200	-3.94	4.38	2.28	0.28536	.	0.936169	0.08889	N	0.878858	D	0.89121	0.6625	N	0.19112	0.55	0.09310	N	0.999995	P	0.40000	0.698	B	0.36418	0.224	T	0.81803	-0.0765	10	0.56958	D	0.05	-0.1986	4.9788	0.14155	0.0:0.5962:0.0:0.4038	.	955	Q9BX69	CARD6_HUMAN	C	955	ENSP00000254691:S955C	ENSP00000254691:S955C	S	+	2	0	CARD6	40890055	0.000000	0.05858	0.001000	0.08648	0.151000	0.21798	0.332000	0.19751	0.368000	0.24481	0.313000	0.20887	TCC		0.502	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			24	282	0	0	0	1	0	24	282					G	40854298	C	G	40854298	3	3	398	1	0	0	0	0	1	0	0	0	2650	855	30	4	2874	4	CARD6	5	40854298	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	127	40854298	140060962	13	6761											
PELO	53918	broad.mit.edu	37	5	52097426	52097426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:52097426G>T	ENST00000274311.2	+	3	1895	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	304					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GAAGGCCAATGAAGCCATGGC	0.502																																						uc003jos.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(910-912)Gaa>Taa		Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.							97	84	88					5																	52097426		2203	4300	6503	SO:0001587	stop_gained	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52097426G>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.910G>T	5.37:g.52097426G>T	ENSP00000274311:p.Glu304*		Somatic				ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	p.E304*	NM_015946	NP_057030	WXS	Illumina GAIIx	Phase_I	Q9BRX2	PELO_HUMAN			2	1895	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	304					Q9GZS6|Q9Y306	Nonsense_Mutation	SNP	ENST00000274311.2	37	c.910G>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	46	12.150867	0.99640	.	.	ENSG00000152684	ENST00000274311	.	.	.	5.91	5.91	0.95273	.	0.063718	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.5117	19.9	0.96981	0.0:0.0:1.0:0.0	.	.	.	.	X	304	.	ENSP00000274311:E304X	E	+	1	0	PELO	52133183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.609000	0.90898	2.794000	0.96219	0.655000	0.94253	GAA		0.502	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		20	48	0	0	0	1	0	20	48					T	52097426	G	T	52097426	4	4	398	1	0	0	0	0	0	1	0	0	11724	1291	45	4	916	4	PELO	5	52097426	Nonsense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	11243128	52097426	128817834	14	6762											
LOX	4015	broad.mit.edu	37	5	121413255	121413255	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:121413255C>T	ENST00000231004.4	-	1	725	c.426G>A	c.(424-426)gcG>gcA	p.A142A	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	142					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCTGGTTCTCCGCGCGCGAGG	0.682																																						uc003ksu.3																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(424-426)gcG>gcA		Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.							23	28	27					5																	121413255		2179	4294	6473	SO:0001819	synonymous_variant	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121413255C>T		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.426G>A	5.37:g.121413255C>T			Somatic				LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_5'Flank|LOX_uc011cwk.2_5'Flank	p.A142A	NM_002317	NP_002308	WXS	Illumina GAIIx	Phase_I	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	0	801	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	142					B2R5Q3|Q5FWF0	Silent	SNP	ENST00000231004.4	37	c.426G>A	CCDS4129.1																																																																																				0.682	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			28	38	0	0	0	1	0	28	38					T	121413255	C	T	121413255	2	4	398	1	0	0	0	0	0	0	0	1	8898	639	23	1		1	LOX	5	121413255	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	69315829	121413255	59502005	15	6763											
DST	667	broad.mit.edu	37	6	56496024	56496024	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:56496024G>A	ENST00000361203.3	-	26	3501	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	DST_ENST00000518935.1_Missense_Mutation_p.S839F|DST_ENST00000370754.5_Missense_Mutation_p.S1343F|DST_ENST00000370765.6_Missense_Mutation_p.S839F|DST_ENST00000370788.2_Missense_Mutation_p.S1165F|DST_ENST00000244364.6_Missense_Mutation_p.S839F|DST_ENST00000421834.2_Missense_Mutation_p.S1165F|DST_ENST00000312431.6_Missense_Mutation_p.S1165F|DST_ENST00000446842.2_Missense_Mutation_p.S839F|DST_ENST00000370769.4_Missense_Mutation_p.S1165F			Q03001	DYST_HUMAN	dystonin	1165					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTAAGTGGAAGACATAGA	0.318																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2515-2517)tCc>tTc		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							112	105	107					6																	56496024		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	g.chr6:56496024G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3494C>T	6.37:g.56496024G>A	ENSP00000354508:p.Ser1165Phe		Somatic				DST_uc021zay.1_Missense_Mutation_p.S1205F|DST_uc021zax.1_Missense_Mutation_p.S839F|DST_uc003pdc.4_Missense_Mutation_p.S839F|DST_uc003pdd.4_Missense_Mutation_p.S839F	p.S839F	NM_015548	NP_056363	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		15	2624	-	Lung NSC(77;0.103)		1165					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2516C>T		.	.	.	.	.	.	.	.	.	.	G	26.0	4.698399	0.88830	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;1.3;1.3;1.3;1.3;-1.09;1.3;-0.25;-1.09;-1.09;-1.09;-1.09	5.57	5.57	0.84162	.	0.135982	0.33712	N	0.004636	D	0.85957	0.5818	M	0.69823	2.125	0.34927	D	0.749013	P;D;P;P;P;D;P;P	0.69078	0.771;0.989;0.771;0.865;0.831;0.997;0.771;0.534	P;P;P;P;P;D;P;B	0.71656	0.48;0.768;0.48;0.713;0.622;0.974;0.48;0.196	D	0.86433	0.1762	9	0.66056	D	0.02	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1165;1165;1343;839;839;839;1165;839	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	F	839;1343;1165;1165;839;1165;1165;1165;839;1205;839;839	ENSP00000244364:S839F;ENSP00000359790:S1343F;ENSP00000359805:S1165F;ENSP00000400883:S1165F;ENSP00000393645:S839F;ENSP00000307959:S1165F;ENSP00000359824:S1165F;ENSP00000354508:S1165F;ENSP00000404924:S839F;ENSP00000431030:S1205F;ENSP00000359801:S839F;ENSP00000431003:S839F	ENSP00000244364:S839F	S	-	2	0	DST	56603983	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	5.544000	0.67231	2.636000	0.89361	0.557000	0.71058	TCC		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	23	0	0	0	1	0	7	23					A	56496024	G	A	56496024	3	1	398	1	0	0	0	0	1	0	0	0	4783	1174	41	2	17915	2	DST	6	56496024	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		56496024	114619043	16	6764											
CPA1	1357	broad.mit.edu	37	7	130027837	130027837	+	Silent	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:130027837G>C	ENST00000011292.3	+	10	1395	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	CPA1_ENST00000484324.1_Silent_p.L327L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	415					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCACACCCTGAATCACCCCT	0.567																																						uc003vpx.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1243-1245)ctG>ctC		Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.							210	192	198					7																	130027837		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027837G>C		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1245G>C	7.37:g.130027837G>C			Somatic					p.L415L	NM_001868	NP_001859	WXS	Illumina GAIIx	Phase_I	P15085	CBPA1_HUMAN			9	1317	+	Melanoma(18;0.0435)		415					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.1245G>C	CCDS5820.1																																																																																				0.567	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		14	278	0	0	0	1	0	14	278					C	130027837	G	C	130027837	2	2	398	1	0	0	0	0	0	0	0	1	3789	1277	45	4		4	CPA1	7	130027837	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		130027837	29110826	17	6765											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	26	0	0	0	1	0	24	26					T	140453136	A	T	140453136	3	4	398	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	10425299	140453136	18685527	18	6766											
KEL	3792	broad.mit.edu	37	7	142650897	142650897	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:142650897C>G	ENST00000355265.2	-	9	1545	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	357					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGGCGAACCTCTGCTTTAGCA	0.547																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1069-1071)caG>caC		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							278	284	282					7																	142650897		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650897C>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1071G>C	7.37:g.142650897C>G	ENSP00000347409:p.Gln357His		Somatic					p.Q357H	NM_000420	NP_000411	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			8	1281	-	Melanoma(164;0.059)		357					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1071G>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262896	0.01445	.	.	ENSG00000197993	ENST00000355265	T	0.73681	-0.77	5.73	1.51	0.23008	Peptidase M13 (1);	1.256980	0.05394	N	0.539505	T	0.39759	0.1090	N	0.00197	-1.87	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	10	0.25106	T	0.35	-3.2661	9.8383	0.40982	0.0:0.4413:0.4121:0.1466	.	357	P23276	KELL_HUMAN	H	357	ENSP00000347409:Q357H	ENSP00000347409:Q357H	Q	-	3	2	KEL	142361019	1.000000	0.71417	0.769000	0.31535	0.029000	0.11900	2.336000	0.43938	0.322000	0.23283	-0.290000	0.09829	CAG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		22	345	0	0	0	1	0	22	345					G	142650897	C	G	142650897	3	3	398	1	0	0	0	0	1	0	0	0	8142	912	32	4	1171	4	KEL	7	142650897	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	2197761	142650897	16487766	19	6767											
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T	rs369624500		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1021						integral component of membrane (GO:0016021)		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547																																						uc003yqw.3																			1	Substitution - coding silent(1)	p.C1021C(2)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3061-3063)tgC>tgT		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							144	126	132					8																	125072866		2203	4300	6503	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125072866C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3063C>T	8.37:g.125072866C>T			Somatic				AK057332_uc003yqy.1_Non-coding_Transcript	p.C1021C	NM_001039112	NP_001034201	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3269	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1021						Silent	SNP	ENST00000522917.1	37	c.3063C>T	CCDS43767.1																																																																																				0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		26	56	0	0	0	1	0	26	56					T	125072866	C	T	125072866	2	4	398	1	0	0	0	0	0	0	0	1	5815	776	27	1		1	FER1L6	8	125072866	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		125072866	21291156	20	6768											
DDX58	23586	broad.mit.edu	37	9	32457322	32457322	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:32457322C>T	ENST00000379883.2	-	18	2733	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	DDX58_ENST00000379882.1_Missense_Mutation_p.R814K|DDX58_ENST00000542096.1_Missense_Mutation_p.R788K|DDX58_ENST00000379868.1_Missense_Mutation_p.R656K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	859	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TATCTTTGCTCTTTTTTCAAA	0.398																																						uc003zra.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2575-2577)aGa>aAa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.							107	100	103					9																	32457322		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457322C>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2576G>A	9.37:g.32457322C>T	ENSP00000369213:p.Arg859Lys		Somatic				DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mji.3_Missense_Mutation_p.R788K	p.R859K	NM_014314	NP_055129	WXS	Illumina GAIIx	Phase_I	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2734	-			859			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2576G>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	1.598	-0.527269	0.04141	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.83	-9.58	0.00559	C-terminal domain of RIG-I (1);	0.768164	0.12221	N	0.488323	T	0.09158	0.0226	N	0.02315	-0.6	0.53005	D	0.999965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	10	0.02654	T	1	-3.0156	4.2485	0.10682	0.2809:0.4701:0.0905:0.1585	.	788;859	B3KWW1;O95786	.;DDX58_HUMAN	K	814;859;656;788	ENSP00000369212:R814K;ENSP00000369213:R859K;ENSP00000369197:R656K;ENSP00000442160:R788K	ENSP00000369197:R656K	R	-	2	0	DDX58	32447322	0.000000	0.05858	0.945000	0.38365	0.247000	0.25773	-2.632000	0.00870	-0.797000	0.04450	0.650000	0.86243	AGA		0.398	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		10	54	0	0	0	1	0	10	54					T	32457322	C	T	32457322	3	4	398	1	0	0	0	0	1	0	0	0	4375	913	32	2	205	2	DDX58	9	32457322	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		32457322	108756109	21	6769											
TMEM2	23670	broad.mit.edu	37	9	74360334	74360334	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:74360334C>T	ENST00000377044.4	-	4	1173	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E212K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	212	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				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)		GGCATACTTTCACCTTCATCT	0.483																																						uc011lsa.1																			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.(634-636)Gaa>Aaa		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							141	128	132					9																	74360334		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360334C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.634G>A	9.37:g.74360334C>T	ENSP00000366243:p.Glu212Lys		Somatic				TMEM2_uc010mos.2_Missense_Mutation_p.E212K|TMEM2_uc011lsb.1_Non-coding_Transcript	p.E212K	NM_013390	NP_037522	WXS	Illumina GAIIx	Phase_I	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	3	1174	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	212			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.634G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229506	0.39399	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.89617	-2.54;-2.54	6.03	5.12	0.69794	G8 domain (2);	0.288679	0.42682	D	0.000674	T	0.81394	0.4813	N	0.17474	0.49	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14023	0.01;0.004	T	0.74976	-0.3480	10	0.20046	T	0.44	.	17.4358	0.87552	0.0:0.8756:0.1244:0.0	.	212;212	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	212	ENSP00000366243:E212K;ENSP00000366266:E212K	ENSP00000366243:E212K	E	-	1	0	TMEM2	73550154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.719000	0.47244	1.542000	0.49330	0.655000	0.94253	GAA		0.483	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		31	72	0	0	0	1	0	31	72					T	74360334	C	T	74360334	3	4	398	1	0	0	0	0	1	0	0	0	16118	835	29	2	3601	2	TMEM2	9	74360334	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	41903012	74360334	66853097	22	6770											
C9orf152	401546	broad.mit.edu	37	9	112963659	112963662	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:112963659_112963662delCAGA	ENST00000400613.4	-	2	895_898	c.286_289delTCTG	c.(286-291)tctgagfs	p.SE96fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	96								p.E76Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCTCCACCTCAGAATCTGCCTCT	0.554																																						uc011lwk.2																			1	Substitution - Missense(1)	p.E76Q(1)	NS(1)	NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(286-291)tctgagfs		Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.																																				SO:0001589	frameshift_variant	401546							g.chr9:112963659_112963662delCAGA	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.286_289delTCTG	9.37:g.112963659_112963662delCAGA	ENSP00000383456:p.Ser96fs		Somatic				C9orf152_uc022blq.1_5'Flank	p.S96fs	NM_001012993	NP_001013011	WXS	Illumina GAIIx	Phase_I	Q5JTZ5	CI152_HUMAN			1	840_843	-			96					A8MWT6	Frame_Shift_Del	DEL	ENST00000400613.4	37	c.286_289delTCTG	CCDS35102.2																																																																																				0.554	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		29	54						29	54	---	---	---	---	-	112963662	CAGA	-	112963659	7	5	398	1	0	1	0	1	0	0	0	0	2463	835	29	0	434	0	C9orf152	9	112963659	Frame_Shift_Del	DEL	CAGA	TCGA-L6-A4EU-01A-11D-A257-08	38603325	112963659	28249772	23	6771											
BEND7	222389	broad.mit.edu	37	10	13541899	13541899	+	Silent	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13541899G>C	ENST00000396900.2	-	3	326	c.327C>G	c.(325-327)ctC>ctG	p.L109L	BEND7_ENST00000378605.3_Silent_p.L57L|BEND7_ENST00000341083.3_Silent_p.L57L|BEND7_ENST00000396898.2_Silent_p.L109L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	109						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AAGACGGGTGGAGGCTTTGCG	0.562																																						uc001imm.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(169-171)ctC>ctG		Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.							78	80	79					10																	13541899		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13541899G>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.327C>G	10.37:g.13541899G>C			Somatic				BEND7_uc001imo.4_Silent_p.L57L	p.L57L	NM_152751	NP_689964	WXS	Illumina GAIIx	Phase_I	Q8N7W2	BEND7_HUMAN			2	468	-			109					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.171C>G																																																																																					0.562	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		8	115	0	0	0	1	0	8	115					C	13541899	G	C	13541899	2	2	398	1	0	0	0	0	0	0	0	1	1403	1161	41	4		4	BEND7	10	13541899	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		13541899	121992848	24	6772											
FRMD4A	55691	broad.mit.edu	37	10	13708199	13708199	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13708199G>A	ENST00000357447.2	-	18	1869	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	FRMD4A_ENST00000378503.1_Silent_p.L501L|FRMD4A_ENST00000358621.4_Silent_p.L486L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	501					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGTGCATTCAGATACGAGGTT	0.493																																						uc001ims.3																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1501-1503)Ctg>Ttg		Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.							129	128	128					10																	13708199		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708199G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1501C>T	10.37:g.13708199G>A			Somatic				FRMD4A_uc009xjf.1_Silent_p.L501L|FRMD4A_uc001imt.1_Silent_p.L534L	p.L501L	NM_018027	NP_060497	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			17	1853	-			501					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1501C>T	CCDS7101.1																																																																																				0.493	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		27	87	0	0	0	1	0	27	87					A	13708199	G	A	13708199	2	1	398	1	0	0	0	0	0	0	0	1	6051	933	33	2		2	FRMD4A	10	13708199	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	166300	13708199	121826548	25	6773											
OPN4	94233	broad.mit.edu	37	10	88419672	88419672	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:88419672C>A	ENST00000241891.5	+	6	988	c.821C>A	c.(820-822)gCc>gAc	p.A274D	OPN4_ENST00000372071.2_Missense_Mutation_p.A285D	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	274					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ACCTTCGGGGCCTGCAAGGGC	0.637																																						uc010qmk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(853-855)gCc>gAc		Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.							100	75	84					10																	88419672		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419672C>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.821C>A	10.37:g.88419672C>A	ENSP00000241891:p.Ala274Asp		Somatic				OPN4_uc001kdp.3_Missense_Mutation_p.A285D|OPN4_uc001kdq.3_Missense_Mutation_p.A274D|OPN4_uc009xsx.1_5'Flank	p.A285D	NM_001030015	NP_001025186	WXS	Illumina GAIIx	Phase_I	Q9UHM6	OPN4_HUMAN			6	1081	+			274					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.854C>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193691	0.38707	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.71934	-0.61;-0.61;-0.61	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	1.783920	0.02624	N	0.103535	T	0.78947	0.4364	M	0.84511	2.7	0.09310	N	0.999996	B;P;P	0.39862	0.27;0.475;0.692	B;B;B	0.39840	0.216;0.158;0.311	T	0.66626	-0.5876	10	0.48119	T	0.1	.	13.0628	0.59015	0.0:0.8243:0.1757:0.0	.	285;274;285	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	D	285;274;285	ENSP00000361141:A285D;ENSP00000241891:A274D;ENSP00000393132:A285D	ENSP00000241891:A274D	A	+	2	0	OPN4	88409652	0.946000	0.32159	0.999000	0.59377	0.692000	0.40212	1.363000	0.34159	2.378000	0.81104	0.650000	0.86243	GCC		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		5	61	0	0	0	1	0	5	61					A	88419672	C	A	88419672	3	1	398	1	0	0	0	0	1	0	0	0	10882	739	26	4	880	4	OPN4	10	88419672	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	74711473	88419672	47115075	26	6774											
C10orf62	414157	broad.mit.edu	37	10	99349675	99349675	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:99349675G>C	ENST00000370640.3	+	1	226	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	7										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TTCAGAGAAAGAGGAGAAGAA	0.498																																						uc001koa.3																			0				endometrium(2)|kidney(1)|lung(1)	4						c.(19-21)aaG>aaC		Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.							101	102	102					10																	99349675		2203	4300	6503	SO:0001583	missense	414157						protein binding	g.chr10:99349675G>C		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.21G>C	10.37:g.99349675G>C	ENSP00000359674:p.Lys7Asn		Somatic				PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	p.K7N	NM_001009997	NP_001009997	WXS	Illumina GAIIx	Phase_I	Q5T681	CJ062_HUMAN		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)	0	226	+		Colorectal(252;0.162)	7					Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	37	c.21G>C	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238002	0.39598	.	.	ENSG00000203942	ENST00000370640	T	0.55234	0.53	4.01	2.09	0.27110	.	0.155263	0.29760	U	0.011279	T	0.54159	0.1841	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.52449	-0.8574	10	0.72032	D	0.01	-22.5031	6.9497	0.24538	0.2272:0.0:0.7728:0.0	.	7	Q5T681	CJ062_HUMAN	N	7	ENSP00000359674:K7N	ENSP00000359674:K7N	K	+	3	2	C10orf62	99339665	0.984000	0.35163	0.504000	0.27639	0.580000	0.36256	0.514000	0.22786	0.264000	0.21851	0.453000	0.30009	AAG		0.498	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		5	88	0	0	0	1	0	5	88					C	99349675	G	C	99349675	3	2	398	1	0	0	0	0	1	0	0	0	1611	933	33	4	23	4	C10orf62	10	99349675	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	10930003	99349675	36185072	27	6775											
FAM53B	9679	broad.mit.edu	37	10	126312016	126312016	+	Missense_Mutation	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:126312016A>C	ENST00000337318.3	-	5	1275	c.1064T>G	c.(1063-1065)gTc>gGc	p.V355G	FAM53B_ENST00000392754.3_Missense_Mutation_p.V355G|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	355										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGCTCAGGGACCGGGGTCCC	0.706																																						uc001lhv.1																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1063-1065)gTc>gGc		Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.							13	13	13					10																	126312016		2188	4278	6466	SO:0001583	missense	9679							g.chr10:126312016A>C	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1064T>G	10.37:g.126312016A>C	ENSP00000338532:p.Val355Gly		Somatic				FAM53B_uc001lhu.1_Intron	p.V355G	NM_014661	NP_055476	WXS	Illumina GAIIx	Phase_I	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	1587	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	355					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1064T>G	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	A	1.879	-0.458415	0.04508	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	1.56	0.23342	.	0.751657	0.12430	N	0.469651	T	0.28200	0.0696	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	9	0.40728	T	0.16	-6.6267	5.5059	0.16854	0.6684:0.1604:0.1713:0.0	.	355	Q14153	FA53B_HUMAN	G	355	.	ENSP00000338532:V355G	V	-	2	0	FAM53B	126302006	0.972000	0.33761	0.001000	0.08648	0.349000	0.29174	1.981000	0.40628	0.461000	0.27071	0.533000	0.62120	GTC		0.706	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		13	11	0	0	0	1	0	13	11					C	126312016	A	C	126312016	3	2	398	1	0	0	0	0	1	0	0	0	5580	275	10	5	208	5	FAM53B	10	126312016	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	26962341	126312016	9222731	28	6776											
SPRYD5	84767	broad.mit.edu	37	11	55658652	55658652	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr11:55658652C>G	ENST00000449290.2	+	7	995	c.903C>G	c.(901-903)ttC>ttG	p.F301L	TRIM51_ENST00000244891.3_Missense_Mutation_p.F158L	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTCATATCTTCCTGTGTGGAG	0.353																																						uc010rip.2																			0											c.(901-903)ttC>ttG		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							77	84	81					11																	55658652		2053	3911	5964	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658652C>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.903C>G	11.37:g.55658652C>G	ENSP00000395086:p.Phe301Leu		Somatic				TRIM51_uc010riq.2_Missense_Mutation_p.F158L	p.F301L	NM_032681	NP_116070	WXS	Illumina GAIIx	Phase_I	Q9BSJ1	SPRY5_HUMAN			6	995	+			301			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.903C>G		.	.	.	.	.	.	.	.	.	.	.	3.998	-0.003135	0.07773	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04502	3.61;3.61	0.892	-1.78	0.07957	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	L	0.46819	1.47	0.23649	N	0.997208	B	0.09022	0.002	B	0.08055	0.003	T	0.48958	-0.8988	9	0.07644	T	0.81	.	3.6826	0.08316	0.0:0.5087:0.4913:0.0	.	301	Q9BSJ1	SPRY5_HUMAN	L	301;158	ENSP00000395086:F301L;ENSP00000244891:F158L	ENSP00000244891:F158L	F	+	3	2	SPRYD5	55415228	0.713000	0.27926	0.343000	0.25615	0.417000	0.31264	0.022000	0.13511	0.159000	0.19401	0.162000	0.16502	TTC		0.353	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		16	102	0	0	0	1	0	16	102					G	55658652	C	G	55658652	3	3	398	1	0	0	0	0	1	0	0	0	15110	854	30	4	925	4	SPRYD5	11	55658652	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		55658652	79347864	29	6777											
CBX5	23468	broad.mit.edu	37	12	54651351	54651351	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:54651351C>A	ENST00000439541.2	-	2	209	c.84G>T	c.(82-84)agG>agT	p.R28S	CBX5_ENST00000209875.4_Missense_Mutation_p.R28S|RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000550411.1_Missense_Mutation_p.R28S	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	28	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						TAACCACGCGCCTGTCTAGCA	0.488																																					Colon(153;588 2459 18334 48613)	uc001sfk.4																			0		p.R28M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(82-84)agG>agT		Homo sapiens chromobox homolog 5 (CBX5), transcript variant 3, mRNA.							178	154	162					12																	54651351		2203	4300	6503	SO:0001583	missense	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.chr12:54651351C>A	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.84G>T	12.37:g.54651351C>A	ENSP00000401009:p.Arg28Ser		Somatic				CBX5_uc001sfh.4_Missense_Mutation_p.R28S|CBX5_uc001sfj.4_Missense_Mutation_p.R28S	p.R28S	NM_012117	NP_036249	WXS	Illumina GAIIx	Phase_I	P45973	CBX5_HUMAN			1	250	-			28			Chromo 1.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.84G>T	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420968	0.42918	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.65	1.58	0.23477	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.35854	1.095	0.58432	D	0.999999	P;B	0.51449	0.945;0.447	D;B	0.66351	0.943;0.411	T	0.66392	-0.5935	10	0.52906	T	0.07	-13.7831	3.2693	0.06876	0.1772:0.4823:0.0:0.3405	.	28;28	G3V1X9;P45973	.;CBX5_HUMAN	S	28	ENSP00000209875:R28S;ENSP00000401009:R28S;ENSP00000449207:R28S;ENSP00000450190:R28S	ENSP00000209875:R28S	R	-	3	2	CBX5	52937618	0.788000	0.28762	1.000000	0.80357	0.619000	0.37552	-0.089000	0.11180	0.478000	0.27488	-0.137000	0.14449	AGG		0.488	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		41	63	0	0	0	1	0	41	63					A	54651351	C	A	54651351	3	1	398	1	0	0	0	0	1	0	0	0	2721	738	26	4	507	4	CBX5	12	54651351	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		54651351	79200544	30	6778											
ZFC3H1	196441	broad.mit.edu	37	12	72057031	72057031	+	Silent	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:72057031A>C	ENST00000378743.3	-	1	718	c.360T>G	c.(358-360)ccT>ccG	p.P120P	ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Silent_p.P120P|ZFC3H1_ENST00000548100.1_Silent_p.P120P|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	120	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						GTGAGCTCGAAGGCATCCGTA	0.657																																						uc001swo.2																			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.(358-360)ccT>ccG		Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.							66	73	71					12																	72057031		1965	4141	6106	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057031A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.360T>G	12.37:g.72057031A>C			Somatic				ZFC3H1_uc010sts.2_Silent_p.P120P|ZFC3H1_uc001swp.3_Silent_p.P120P|THAP2_uc001swq.3_5'Flank	p.P120P	NM_144982	NP_659419	WXS	Illumina GAIIx	Phase_I	O60293	ZC3H1_HUMAN			0	719	-			120			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.360T>G	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		57	95	0	0	0	1	0	57	95					C	72057031	A	C	72057031	2	2	398	1	0	0	0	0	0	0	0	1	17630	59	3	5		5	ZFC3H1	12	72057031	Silent	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	17405680	72057031	61794864	31	6779											
GOLGA2B	55592	broad.mit.edu	37	12	100551837	100551837	+	RNA	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:100551837C>T	ENST00000397112.4	-	0	1618				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						ACCTCCTCCTCCTCCTCACTG	0.632																																						uc001tgs.3																			0											c.(16-18)Gag>Aag		Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.							86	62	70					12																	100551837		2203	4300	6503			55592							g.chr12:100551837C>T																													12.37:g.100551837C>T			Somatic				GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript	p.E6K			WXS	Illumina GAIIx	Phase_I					2	460	-								Q9NSV2	Missense_Mutation	SNP	ENST00000397112.4	37	c.16G>A																																																																																					0.632	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			3	14	0	0	0	1	0	3	14					T	100551837	C	T	100551837	1	4	398	0	1	0	0	0	0	0	0	0	6553	864	30	2		2	GOLGA2B	12	100551837	RNA	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	28494806	100551837	33300058	32	6780											
MTERFD3	80298	broad.mit.edu	37	12	107372093	107372093	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:107372093C>T	ENST00000552029.1	-	2	2468	c.400G>A	c.(400-402)Gag>Aag	p.E134K	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.E134K|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E134K			Q49AM1	MTEF2_HUMAN		134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAACTGCTCTATTAACTTG	0.403																																						uc001tme.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(400-402)Gag>Aag		Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.							88	94	92					12																	107372093		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372093C>T																												ENST00000552029.1:c.400G>A	12.37:g.107372093C>T	ENSP00000447651:p.Glu134Lys		Somatic				MTERFD3_uc001tmf.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E134K|MTERFD3_uc021rdh.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E134K	p.E134K	NM_025198	NP_079474	WXS	Illumina GAIIx	Phase_I	Q49AM1	MTER3_HUMAN			1	2219	-			134					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.400G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860384	0.51482	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.95	4.12	0.48240	.	0.047014	0.85682	D	0.000000	T	0.09730	0.0239	M	0.71581	2.175	0.58432	D	0.999997	B	0.23442	0.085	B	0.23275	0.045	T	0.08086	-1.0739	10	0.09590	T	0.72	-0.9639	9.1621	0.37030	0.0:0.7465:0.122:0.1315	.	134	Q49AM1	MTER3_HUMAN	K	134	ENSP00000376575:E134K;ENSP00000240050:E134K;ENSP00000447651:E134K;ENSP00000448343:E134K	ENSP00000240050:E134K	E	-	1	0	MTERFD3	105896223	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.829000	0.55760	0.844000	0.35094	0.563000	0.77884	GAG		0.403	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			45	85	0	0	0	1	0	45	85					T	107372093	C	T	107372093	3	4	398	1	0	0	0	0	1	0	0	0	9921	922	32	2	761	2	MTERFD3	12	107372093	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	6820256	107372093	26479802	33	6781											
EPSTI1	94240	broad.mit.edu	37	13	43462494	43462494	+	IGR	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr13:43462494G>A	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313640.7_Silent_p.V375V|EPSTI1_ENST00000313624.7_3'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)									p.V375V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AGTCACTCCTGACTGCACGGT	0.418																																						uc001uyw.1																			1	Substitution - coding silent(1)	p.V375V(2)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(1123-1125)gtC>gtT		Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.							77	73	75					13																	43462494		2203	4300	6503	SO:0001628	intergenic_variant	94240							g.chr13:43462494G>A	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462494G>A			Somatic				EPSTI1_uc001uyx.1_3'UTR	p.V375V	NM_001002264	NP_001002264	WXS	Illumina GAIIx	Phase_I	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	12	1201	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	0					Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	c.1125C>T	CCDS9387.1																																																																																				0.418	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		30	54	0	0	0	1	0	30	54					A	43462494	G	A	43462494	1	1	398	0	1	0	0	0	0	0	0	0	5198	1277	45	2		2	EPSTI1	13	43462494	IGR	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		43462494	71707384	34	6782											
HMOX2	3163	broad.mit.edu	37	16	4557905	4557905	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:4557905G>A	ENST00000570646.1	+	4	1001	c.396G>A	c.(394-396)caG>caA	p.Q132Q	HMOX2_ENST00000398595.3_Silent_p.Q132Q|HMOX2_ENST00000406590.2_Silent_p.Q132Q|HMOX2_ENST00000575120.1_Silent_p.Q103Q|HMOX2_ENST00000458134.3_Silent_p.Q132Q|HMOX2_ENST00000414777.1_Silent_p.Q132Q|HMOX2_ENST00000219700.6_Silent_p.Q132Q	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	132					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCTGCCCAGAAGTACGTGG	0.607																																						uc010bts.3																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(394-396)caG>caA		Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA.	NADH(DB00157)						51	50	50					16																	4557905		2197	4300	6497	SO:0001819	synonymous_variant	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4557905G>A		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.396G>A	16.37:g.4557905G>A			Somatic				HMOX2_uc002cwr.4_Silent_p.Q132Q|HMOX2_uc002cwq.4_Silent_p.Q132Q|HMOX2_uc010btt.3_Silent_p.Q132Q|HMOX2_uc002cwt.3_Silent_p.Q132Q	p.Q132Q	NM_001127206	NP_002125	WXS	Illumina GAIIx	Phase_I	P30519	HMOX2_HUMAN			3	567	+			132					A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	c.396G>A	CCDS10517.1																																																																																				0.607	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			6	69	0	0	0	1	0	6	69					A	4557905	G	A	4557905	2	1	398	1	0	0	0	0	0	0	0	1	7244	933	33	2		2	HMOX2	16	4557905	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08		4557905	85796848	35	6783											
C16orf62	57020	broad.mit.edu	37	16	19711771	19711771	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:19711771C>T	ENST00000251143.5	+	31	2877	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	C16orf62_ENST00000448695.1_Silent_p.L805L|C16orf62_ENST00000438132.3_Silent_p.L1044L|C16orf62_ENST00000543152.1_Silent_p.L704L|C16orf62_ENST00000417362.2_Silent_p.L862L|C16orf62_ENST00000542263.1_Silent_p.L951L			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	955						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						AGCTGGCCCTCAGACTCCCTC	0.522																																						uc002dgn.2																			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.(2863-2865)ctC>ctT		Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.							88	88	88					16																	19711771		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19711771C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2865C>T	16.37:g.19711771C>T			Somatic				C16orf62_uc002dgo.2_Silent_p.L951L|C16orf62_uc002dgp.2_Silent_p.L704L	p.L955L	NM_020314	NP_064710	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			30	3180	+			955					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.2865C>T																																																																																					0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		20	35	0	0	0	1	0	20	35					T	19711771	C	T	19711771	2	4	398	1	0	0	0	0	0	0	0	1	1825	813	29	2		2	C16orf62	16	19711771	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	15153866	19711771	70642982	36	6784											
NUP93	9688	broad.mit.edu	37	16	56782199	56782199	+	Missense_Mutation	SNP	G	G	A	rs528073782		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:56782199G>A	ENST00000308159.5	+	2	161	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	NUP93_ENST00000569842.1_Missense_Mutation_p.E14K	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	14					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)|nuclear pore complex assembly (GO:0051292)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E14K(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCAGCAAGCTGAACAGCTTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	uc002eka.3																			3	Substitution - Missense(3)	p.E14K(6)|p.A13A(1)	breast(2)|upper_aerodigestive_tract(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(40-42)Gaa>Aaa		Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.							67	65	66					16																	56782199		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782199G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.40G>A	16.37:g.56782199G>A	ENSP00000310668:p.Glu14Lys		Somatic					p.E14K	NM_014669	NP_001229725	WXS	Illumina GAIIx	Phase_I	Q8N1F7	NUP93_HUMAN			1	161	+			14					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.40G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428130	0.83667	.	.	ENSG00000102900	ENST00000308159	T	0.44083	0.93	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.39898	1.24	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.22208	-1.0223	10	0.12103	T	0.63	-21.6196	20.8598	0.99761	0.0:0.0:1.0:0.0	.	14	Q8N1F7	NUP93_HUMAN	K	14	ENSP00000310668:E14K	ENSP00000310668:E14K	E	+	1	0	NUP93	55339700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.685000	0.98661	2.937000	0.99478	0.650000	0.86243	GAA		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		6	74	0	0	0	1	0	6	74					A	56782199	G	A	56782199	3	1	398	1	0	0	0	0	1	0	0	0	10772	1291	45	2	42	2	NUP93	16	56782199	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	37070428	56782199	33572554	37	6785											
ELMO3	1874	broad.mit.edu	37	16	67233140	67233140	+	IGR	DEL	C	C	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:67233140delC	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Frame_Shift_Del_p.P24fs|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000360833.1_Frame_Shift_Del_p.P24fs	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGAGGACCTCCTCGTCCCCA	0.701																																						uc002esa.3																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(70-72)cctfs		Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.							21	29	27					16																	67233140		2073	4194	6267	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233140delC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233140delC			Somatic				ELMO3_uc002esb.3_Frame_Shift_Del_p.P24fs|ELMO3_uc002esc.3_5'Flank	p.P24fs	NM_024712	NP_078988	WXS	Illumina GAIIx	Phase_I	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	0	113	+		Ovarian(137;0.0563)	0					A6NGR8|B5BU56|Q12991|Q15328	Frame_Shift_Del	DEL	ENST00000379378.3	37	c.70delC	CCDS32464.1																																																																																				0.701	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		14	17						14	17	---	---	---	---	-	67233140	C	-	67233140	6	5	398	0	1	1	0	1	0	0	0	0	5067	855	30	0		0	ELMO3	16	67233140	IGR	DEL	C	TCGA-L6-A4EU-01A-11D-A257-08	10450941	67233140	23121613	38	6786											
ZFHX3	463	broad.mit.edu	37	16	72821420	72821420	+	Silent	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:72821420A>C	ENST00000268489.5	-	10	11427	c.10755T>G	c.(10753-10755)tcT>tcG	p.S3585S	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2671S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3585					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)				ACTGCGAGGTAGATGCGGTGC	0.617																																						uc002fck.3																			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.(10753-10755)tcT>tcG		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							273	211	232					16																	72821420		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.chr16:72821420A>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10755T>G	16.37:g.72821420A>C			Somatic				AK021563_uc002fcj.1_Intron|ZFHX3_uc002fcl.3_Silent_p.S2671S	p.S3585S	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	11428	-		Ovarian(137;0.13)	3585					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10755T>G	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		48	80	0	0	0	1	0	48	80					C	72821420	A	C	72821420	2	2	398	1	0	0	0	0	0	0	0	1	17631	407	15	5		5	ZFHX3	16	72821420	Silent	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08	5588280	72821420	17533333	39	6787											
CLEC3A	10143	broad.mit.edu	37	16	78064504	78064504	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:78064504G>C	ENST00000575655.1	+	3	441	c.360G>C	c.(358-360)agG>agC	p.R120S	CLEC3A_ENST00000299642.4_Missense_Mutation_p.R129S|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	120	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ATGGTAAAAGGAGCCTGCCAG	0.488																																						uc002ffh.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(358-360)agG>agC		Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.							88	76	80					16																	78064504		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064504G>C	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.360G>C	16.37:g.78064504G>C	ENSP00000460682:p.Arg120Ser		Somatic				CLEC3A_uc021tlr.1_Missense_Mutation_p.R68S	p.R120S	NM_005752	NP_005743	WXS	Illumina GAIIx	Phase_I	O75596	CLC3A_HUMAN			2	441	+			120			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.360G>C		.	.	.	.	.	.	.	.	.	.	G	15.04	2.716292	0.48622	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	-1.09	0.09904	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.339762	0.36482	N	0.002561	T	0.28101	0.0693	N	0.17278	0.47	0.35676	D	0.813703	B	0.06786	0.001	B	0.06405	0.002	T	0.03095	-1.1073	9	0.72032	D	0.01	-5.4882	3.1475	0.06477	0.1839:0.3039:0.398:0.1142	.	120	O75596	CLC3A_HUMAN	S	120	.	ENSP00000299642:R120S	R	+	3	2	CLEC3A	76622005	1.000000	0.71417	0.714000	0.30535	0.959000	0.62525	1.339000	0.33885	-0.305000	0.08831	-0.284000	0.09977	AGG		0.488	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		36	167	0	0	0	1	0	36	167					C	78064504	G	C	78064504	3	2	398	1	0	0	0	0	1	0	0	0	3510	1165	41	4	370	4	CLEC3A	16	78064504	Missense_Mutation	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	5243084	78064504	12290249	40	6788											
TMEM38A	79041	broad.mit.edu	37	19	16799102	16799102	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:16799102C>G	ENST00000187762.2	+	6	911	c.820C>G	c.(820-822)Cag>Gag	p.Q274E		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	274						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCAGGAGCTCAGCATTCGGC	0.647																																						uc002nes.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(820-822)Cag>Gag		Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.							65	67	66					19																	16799102		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799102C>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.820C>G	19.37:g.16799102C>G	ENSP00000187762:p.Gln274Glu		Somatic					p.Q274E	NM_024074	NP_076979	WXS	Illumina GAIIx	Phase_I	Q9H6F2	TM38A_HUMAN			5	911	+			274					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.820C>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	1.386	-0.582102	0.03827	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.17	1.97	0.26223	.	0.786063	0.11766	N	0.531636	T	0.22437	0.0541	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.31052	-0.9957	9	0.02654	T	1	-0.05	6.8022	0.23758	0.0:0.7234:0.1769:0.0997	.	274	Q9H6F2	TM38A_HUMAN	E	274	.	ENSP00000187762:Q274E	Q	+	1	0	TMEM38A	16660102	0.001000	0.12720	0.001000	0.08648	0.176000	0.22953	0.833000	0.27504	0.243000	0.21327	0.561000	0.74099	CAG		0.647	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		8	170	0	0	0	1	0	8	170					G	16799102	C	G	16799102	3	3	398	1	0	0	0	0	1	0	0	0	16156	827	29	4	842	4	TMEM38A	19	16799102	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		16799102	42329881	41	6789											
SERTAD3	29946	broad.mit.edu	37	19	40947970	40947970	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:40947970C>T	ENST00000322354.3	-	2	514	c.18G>A	c.(16-18)aaG>aaA	p.K6K	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Silent_p.K6K	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	6					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGTTTCCTCTTCAAGCCTC	0.562																																						uc002onu.4																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(16-18)aaG>aaA		Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.							22	20	20					19																	40947970		2203	4300	6503	SO:0001819	synonymous_variant	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947970C>T	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"RPA-binding trans-activator"	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.18G>A	19.37:g.40947970C>T			Somatic				SERTAD3_uc002onv.4_Silent_p.K6K|SERTAD3_uc021uut.1_Silent_p.K6K	p.K6K	NM_013368	NP_976219	WXS	Illumina GAIIx	Phase_I	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		1	296	-			6					B3KQB3|Q96CQ2	Silent	SNP	ENST00000322354.3	37	c.18G>A	CCDS12558.1																																																																																				0.562	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		15	19	0	0	0	1	0	15	19					T	40947970	C	T	40947970	2	4	398	1	0	0	0	0	0	0	0	1	14122	912	32	2		2	SERTAD3	19	40947970	Silent	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08	24148868	40947970	18181013	42	6790											
RALGAPB	57148	broad.mit.edu	37	20	37153437	37153437	+	Missense_Mutation	SNP	A	A	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr20:37153437A>T	ENST00000262879.6	+	11	1920	c.1636A>T	c.(1636-1638)Att>Ttt	p.I546F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.I324F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.I546F|RALGAPB_ENST00000537204.1_Nonstop_Mutation_p.*478Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I546F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	546					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATGCTTTTAATTCAAGGTTT	0.328																																						uc010zvz.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1432-1434)taA>taT		Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.							161	149	153					20																	37153437		2202	4300	6502	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	g.chr20:37153437A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1636A>T	20.37:g.37153437A>T	ENSP00000262879:p.Ile546Phe		Somatic				RALGAPB_uc002xiw.3_Missense_Mutation_p.I546F|RALGAPB_uc002xix.3_Missense_Mutation_p.I546F|RALGAPB_uc002xiy.1_Missense_Mutation_p.I546F|RALGAPB_uc002xiz.3_Missense_Mutation_p.I324F|RALGAPB_uc002xja.1_Missense_Mutation_p.I273F	p.*478Y			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			9	1691	+			0					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonstop_Mutation	SNP	ENST00000262879.6	37	c.1434A>T	CCDS13305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.700221|3.700221	0.68501|0.68501	.|.	.|.	ENSG00000170471|ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490|ENST00000537204	T;T|.	0.65732|.	-0.17;-0.17|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.150888|.	0.64402|.	D|.	0.000019|.	T|.	0.44891|.	0.1315|.	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999996|0.999996	P;P;P;P|.	0.41131|.	0.739;0.571;0.571;0.571|.	B;B;B;B|.	0.43728|.	0.429;0.395;0.395;0.395|.	T|.	0.37009|.	-0.9724|.	10|.	0.33940|.	T|.	0.23|.	.|.	9.8766|9.8766	0.41207|0.41207	0.9234:0.0:0.0766:0.0|0.9234:0.0:0.0766:0.0	.|.	374;546;546;546|.	A2A2F0;Q86X10-4;A2A2E9;Q86X10|.	.;.;.;RLGPB_HUMAN|.	F|Y	546;546;546;324;546;374|478	ENSP00000262879:I546F;ENSP00000380233:I546F|.	ENSP00000262879:I546F|.	I|X	+|+	1|3	0|2	RALGAPB|RALGAPB	36586851|36586851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.529000|7.529000	0.81952|0.81952	2.035000|2.035000	0.60131|0.60131	0.459000|0.459000	0.35465|0.35465	ATT|TAA		0.328	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		42	53	0	0	0	1	0	42	53					T	37153437	A	T	37153437	3	4	398	1	0	0	0	0	1	0	0	0	13015	101	4	5	1674	5	RALGAPB	20	37153437	Missense_Mutation	SNP	A	TCGA-L6-A4EU-01A-11D-A257-08		37153437	25872083	43	6791											
LARGE	9215	broad.mit.edu	37	22	34046477	34046477	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:34046477C>T	ENST00000354992.2	-	4	855	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LARGE_ENST00000337431.2_Missense_Mutation_p.R95Q|LARGE_ENST00000402320.1_Missense_Mutation_p.R95Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R95Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R95Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	95					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGGTTGCCTCGGCGATGGGA	0.682																																					Colon(70;397 1175 4573 19089 45288)	uc003and.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(283-285)cGa>cAa		Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.							59	55	56					22																	34046477		2203	4300	6503	SO:0001583	missense	9215				N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046477C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.284G>A	22.37:g.34046477C>T	ENSP00000347088:p.Arg95Gln		Somatic				LARGE_uc003ane.4_Missense_Mutation_p.R95Q|LARGE_uc010gwp.3_Missense_Mutation_p.R95Q|LARGE_uc011ame.2_Missense_Mutation_p.R27Q|LARGE_uc011amf.2_Missense_Mutation_p.R95Q	p.R95Q	NM_004737	NP_598397	WXS	Illumina GAIIx	Phase_I	O95461	LARGE_HUMAN			3	863	-		Lung NSC(1;0.219)	95					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.284G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092381	0.55968	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071	T;T;T;T;T;T;T;T	0.51325	1.2;1.19;1.2;1.19;0.71;1.53;1.53;1.52	5.45	4.44	0.53790	.	0.188426	0.46145	D	0.000313	T	0.24967	0.0606	N	0.08118	0	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.013	B;B;B	0.12156	0.004;0.007;0.004	T	0.06534	-1.0821	10	0.15499	T	0.54	-4.4186	10.1789	0.42955	0.0:0.8488:0.0:0.1512	.	95;95;95	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	Q	95	ENSP00000347088:R95Q;ENSP00000336636:R95Q;ENSP00000380549:R95Q;ENSP00000385223:R95Q;ENSP00000388544:R95Q;ENSP00000396277:R95Q;ENSP00000415546:R95Q;ENSP00000389605:R95Q	ENSP00000336636:R95Q	R	-	2	0	LARGE	32376477	0.468000	0.25839	0.837000	0.33122	0.937000	0.57800	0.856000	0.27818	1.296000	0.44742	0.563000	0.77884	CGA		0.682	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		8	120	0	0	0	1	0	8	120					T	34046477	C	T	34046477	3	4	398	1	0	0	0	0	1	0	0	0	8627	884	31	1	2038	1	LARGE	22	34046477	Missense_Mutation	SNP	C	TCGA-L6-A4EU-01A-11D-A257-08		34046477	17258089	44	6792											
COL4A5	1287	broad.mit.edu	37	X	107834385	107834385	+	Silent	SNP	T	T	G	rs104886109		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:107834385T>G	ENST00000361603.2	+	20	1507	c.1263T>G	c.(1261-1263)ccT>ccG	p.P421P	COL4A5_ENST00000328300.6_Silent_p.P421P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	421	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCCTGGACCTCCTGGACTTG	0.557									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1261-1263)ccT>ccG		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							75	78	77					X																	107834385		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834385T>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1263T>G	X.37:g.107834385T>G			Somatic				COL4A5_uc004enz.1_Silent_p.P421P|COL4A5_uc004eob.1_Silent_p.P29P	p.P421P	NM_033380	NP_203699	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			19	1465	+			421			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.1263T>G	CCDS14543.1																																																																																				0.557	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			26	65	0	0	0	1	0	26	65					G	107834385	T	G	107834385	2	3	398	1	0	0	0	0	0	0	0	1	3694	1538	54	5		5	COL4A5	23	107834385	Silent	SNP	T	TCGA-L6-A4EU-01A-11D-A257-08		107834385	47436175	45	6793											
UBE2A	7319	broad.mit.edu	37	X	118708873	118708873	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:118708873G>A	ENST00000371558.2	+	2	228	c.54G>A	c.(52-54)gaG>gaA	p.E18E	UBE2A_ENST00000346330.3_Silent_p.E18E|UBE2A_ENST00000469205.1_3'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	18					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GGTTGCAGGAGGATCCTCCAG	0.692								Rad6 pathway																														uc004erl.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						c.(52-54)gaG>gaA	Rad6 pathway	Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA.							149	119	129					X																	118708873		2203	4300	6503	SO:0001819	synonymous_variant	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118708873G>A	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"Ubiquitin-conjugating enzymes E2"	12472	protein-coding gene	gene with protein product		312180	"ubiquitin-conjugating enzyme E2A (RAD6 homolog)"			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.54G>A	X.37:g.118708873G>A			Somatic				UBE2A_uc004erm.3_Silent_p.E18E	p.E18E	NM_003336	NP_861442	WXS	Illumina GAIIx	Phase_I	P49459	UBE2A_HUMAN			1	230	+			18					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Silent	SNP	ENST00000371558.2	37	c.54G>A	CCDS14580.1																																																																																				0.692	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		29	46	0	0	0	1	0	29	46					A	118708873	G	A	118708873	2	1	398	1	0	0	0	0	0	0	0	1	16841	991	35	2		2	UBE2A	23	118708873	Silent	SNP	G	TCGA-L6-A4EU-01A-11D-A257-08	10874488	118708873	36561687	46	6794											
SEL1L3	23231	broad.mit.edu	37	4	25769225	25769225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr4:25769225delC	ENST00000399878.3	-	19	2889	c.2767delG	c.(2767-2769)gccfs	p.A923fs	RP11-302F12.10_ENST00000510905.1_RNA|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.A888fs|SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.A770fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	923						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TATCTCCTGGCCAGGTCCTAA	0.388																																						uc003gru.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2767-2769)gccfs		Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.							77	69	72					4																	25769225		1852	4097	5949	SO:0001589	frameshift_variant	23231					integral to membrane	binding	g.chr4:25769225delC	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2767delG	4.37:g.25769225delC	ENSP00000382767:p.Ala923fs		Somatic				SEL1L3_uc003grv.3_Frame_Shift_Del_p.A330fs	p.A923fs	NM_015187	NP_056002	WXS	Illumina GAIIx	Phase_I	Q68CR1	SE1L3_HUMAN			18	2919	-			923					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Del	DEL	ENST00000399878.3	37	c.2767delG	CCDS47037.1																																																																																				0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		2	4						2	4	---	---	---	---	-	25769225	C	-	25769225	7	5	399	1	0	1	0	1	0	0	0	0	14012	739	26	0	655	0	SEL1L3	4	25769225	Frame_Shift_Del	DEL	C	TCGA-MK-A4N6-01A-11D-A257-08		25769225	165385051	1	6795											
SLCO6A1	133482	broad.mit.edu	37	5	101794169	101794169	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:101794169G>A	ENST00000506729.1	-	6	1219	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294																																						uc003knn.3																			0		p.R350H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1048-1050)Cgt>Tgt		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							133	131	132					5																	101794169		2201	4300	6501	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794169G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1048C>T	5.37:g.101794169G>A	ENSP00000421339:p.Arg350Cys		Somatic				SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.R350C|SLCO6A1_uc003knq.3_Missense_Mutation_p.R288C	p.R350C	NM_173488	NP_775759	WXS	Illumina GAIIx	Phase_I	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	5	1220	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	350					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1048C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	7.806	0.714760	0.15306	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.81247	-1.47;-1.47;-1.47	4.3	-0.997	0.10215	Major facilitator superfamily domain, general substrate transporter (1);	2.743770	0.00789	N	0.001322	T	0.75191	0.3816	M	0.74258	2.255	0.09310	N	1	P;P	0.44044	0.825;0.735	B;B	0.35607	0.206;0.189	T	0.60969	-0.7157	10	0.54805	T	0.06	.	0.8993	0.01270	0.1862:0.1516:0.3518:0.3104	.	288;350	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	C	350;350;288	ENSP00000421339:R350C;ENSP00000369135:R350C;ENSP00000373671:R288C	ENSP00000369135:R350C	R	-	1	0	SLCO6A1	101822068	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.281000	0.08456	-0.205000	0.10219	-0.123000	0.14984	CGT		0.294	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		19	25	0	0	0	1	0	19	25					A	101794169	G	A	101794169	3	1	399	1	0	0	0	0	1	0	0	0	14732	1145	40	1	1143	1	SLCO6A1	5	101794169	Missense_Mutation	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08		101794169	79121091	2	6796											
KIF4B	285643	broad.mit.edu	37	5	154395925	154395925	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr5:154395925G>A	ENST00000435029.4	+	1	2666	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	836	Interaction with PRC1. {ECO:0000250}.				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)			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)			TCAGATTGCTGACCTACAGCA	0.443																																						uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2506-2508)Gac>Aac		Homo sapiens kinesin family member 4B (KIF4B), mRNA.							68	68	68					5																	154395925		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.chr5:154395925G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2506G>A	5.37:g.154395925G>A	ENSP00000387875:p.Asp836Asn		Somatic					p.D836N	NM_001099293	NP_001092763	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	2666	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	836			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2506G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	18.66	3.671050	0.67814	.	.	ENSG00000226650	ENST00000435029	T	0.71934	-0.61	1.8	1.8	0.24995	.	.	.	.	.	T	0.82010	0.4944	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.82163	-0.0593	9	0.52906	T	0.07	.	9.5697	0.39420	0.0:0.0:1.0:0.0	.	836	Q2VIQ3	KIF4B_HUMAN	N	836	ENSP00000387875:D836N	ENSP00000387875:D836N	D	+	1	0	KIF4B	154376118	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.525000	0.60559	1.330000	0.45394	0.563000	0.77884	GAC		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			13	29	0	0	0	1	0	13	29					A	154395925	G	A	154395925	3	1	399	1	0	0	0	0	1	0	0	0	8304	1290	45	2	2508	2	KIF4B	5	154395925	Missense_Mutation	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08	52601756	154395925	26519335	3	6797											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	44	0	0	0	1	0	27	44					T	140453136	A	T	140453136	3	4	399	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		140453136	18685527	4	6798											
BMP1	649	broad.mit.edu	37	8	22054270	22054270	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr8:22054270A>T	ENST00000306385.5	+	14	2513	c.1843A>T	c.(1843-1845)Aag>Tag	p.K615*	BMP1_ENST00000306349.8_Nonsense_Mutation_p.K615*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.K615*|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	615	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCCCCCCAACAAGAACTGCAT	0.607																																						uc003xbg.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1843-1845)Aag>Tag		Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.							64	56	59					8																	22054270		2203	4300	6503	SO:0001587	stop_gained	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054270A>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1843A>T	8.37:g.22054270A>T	ENSP00000305714:p.Lys615*		Somatic				BMP1_uc003xbf.3_Nonsense_Mutation_p.K364*|BMP1_uc003xbb.3_Nonsense_Mutation_p.K615*|BMP1_uc003xbc.3_Nonsense_Mutation_p.K364*|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Nonsense_Mutation_p.K364*|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	p.K615*	NM_006129	NP_006120	WXS	Illumina GAIIx	Phase_I	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	13	2109	+			615			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Nonsense_Mutation	SNP	ENST00000306385.5	37	c.1843A>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	A	37	6.586188	0.97684	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	.	.	.	5.65	4.46	0.54185	.	0.176952	0.26623	U	0.023346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8257	0.52265	0.853:0.147:0.0:0.0	.	.	.	.	X	615	.	ENSP00000306121:K615X	K	+	1	0	BMP1	22110215	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.332000	0.96446	0.940000	0.37473	0.379000	0.24179	AAG		0.607	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		13	23	0	0	0	1	0	13	23					T	22054270	A	T	22054270	4	4	399	1	0	0	0	0	0	1	0	0	1456	131	5	5	1897	5	BMP1	8	22054270	Nonsense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		22054270	124309752	5	6799											
CREBZF	58487	broad.mit.edu	37	11	85375047	85375047	+	Silent	SNP	C	C	T			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:85375047C>T	ENST00000527447.1	-	1	1099	c.873G>A	c.(871-873)ctG>ctA	p.L291L	CREBZF_ENST00000398294.2_Silent_p.L209L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	291					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCGAGGTGGTCAGCCGCAGTC	0.652											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(871-873)ctG>ctA		Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.							40	46	44					11																	85375047		2057	4174	6231	SO:0001819	synonymous_variant	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375047C>T	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.873G>A	11.37:g.85375047C>T			Somatic	OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	p.L291L	NM_001039618	NP_001034707	WXS	Illumina GAIIx	Phase_I	Q9NS37	ZHANG_HUMAN			0	1136	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	291					B2R8Q9|Q0P5U9|Q52LT3	Silent	SNP	ENST00000527447.1	37	c.873G>A	CCDS41697.1																																																																																				0.652	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		8	112	0	0	0	1	0	8	112					T	85375047	C	T	85375047	2	4	399	1	0	0	0	0	0	0	0	1	3863	813	29	2		2	CREBZF	11	85375047	Silent	SNP	C	TCGA-MK-A4N6-01A-11D-A257-08		85375047	49631469	6	6800											
MLL	4297	broad.mit.edu	37	11	118374951	118374951	+	Missense_Mutation	SNP	A	A	G			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr11:118374951A>G	ENST00000389506.5	+	27	8335	c.8335A>G	c.(8335-8337)Aag>Gag	p.K2779E	KMT2A_ENST00000354520.4_Missense_Mutation_p.K2741E|KMT2A_ENST00000534358.1_Missense_Mutation_p.K2782E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2779					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAATGAGCCAAAGATGGATAA	0.433																																						uc001ptb.3										"T, O"					"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"		"AML, ALL"		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(8344-8346)Aag>Gag		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							92	91	91					11																	118374951		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374951A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8335A>G	11.37:g.118374951A>G	ENSP00000374157:p.Lys2779Glu		Somatic				MLL_uc001pta.3_Missense_Mutation_p.K2779E	p.K2782E	NM_001197104	NP_001184033	WXS	Illumina GAIIx	Phase_I	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	8367	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2779					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8344A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.245271	0.39697	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83075	-1.68;-1.68;-1.65	6.17	6.17	0.99709	.	0.049917	0.85682	D	0.000000	T	0.78104	0.4231	L	0.40543	1.245	0.50171	D	0.999855	B;B	0.33212	0.402;0.402	B;B	0.29267	0.1;0.1	T	0.78440	-0.2203	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2782;2779	E9PQG7;Q03164	.;MLL1_HUMAN	E	2782;2779;2741;1689	ENSP00000436786:K2782E;ENSP00000374157:K2779E;ENSP00000346516:K2741E	ENSP00000346516:K2741E	K	+	1	0	MLL	117880161	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.236000	0.58675	2.371000	0.80710	0.533000	0.62120	AAG		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		23	78	0	0	0	1	0	23	78					G	118374951	A	G	118374951	3	3	399	1	0	0	0	0	1	0	0	0	9620	15	1	3	8441	3	MLL	11	118374951	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08	32999904	118374951	16631565	7	6801											
KLHL26	55295	broad.mit.edu	37	19	18779952	18779952	+	Missense_Mutation	SNP	A	A	T			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr19:18779952A>T	ENST00000300976.4	+	3	1835	c.1745A>T	c.(1744-1746)aAc>aTc	p.N582I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	582										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGGTGTACAACACGGACACC	0.657																																						uc002njz.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1744-1746)aAc>aTc		Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.							29	33	32					19																	18779952		2202	4297	6499	SO:0001583	missense	55295							g.chr19:18779952A>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1745A>T	19.37:g.18779952A>T	ENSP00000300976:p.Asn582Ile		Somatic					p.N582I	NM_018316	NP_060786	WXS	Illumina GAIIx	Phase_I	Q53HC5	KLH26_HUMAN			2	1772	+			582					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.1745A>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733238	0.69189	.	.	ENSG00000167487	ENST00000300976	T	0.80033	-1.33	4.34	4.34	0.51931	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	M	0.85462	2.755	0.80722	D	1	P	0.51240	0.943	P	0.48488	0.579	D	0.86569	0.1846	9	.	.	.	.	12.704	0.57049	1.0:0.0:0.0:0.0	.	582	Q53HC5	KLH26_HUMAN	I	582	ENSP00000300976:N582I	.	N	+	2	0	KLHL26	18640952	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.058000	0.93896	1.611000	0.50210	0.379000	0.24179	AAC		0.657	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		17	36	0	0	0	1	0	17	36					T	18779952	A	T	18779952	3	4	399	1	0	0	0	0	1	0	0	0	8381	43	2	5	1755	5	KLHL26	19	18779952	Missense_Mutation	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		18779952	40349031	8	6802											
ARHGAP8	23779	broad.mit.edu	37	22	45210582	45210582	+	Silent	SNP	G	G	A			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chr22:45210582G>A	ENST00000389774.2	+	6	564	c.423G>A	c.(421-423)gtG>gtA	p.V141V	PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V241V|ARHGAP8_ENST00000517296.3_Silent_p.V320V|ARHGAP8_ENST00000336963.4_Silent_p.V110V|ARHGAP8_ENST00000356099.6_Silent_p.V110V|ARHGAP8_ENST00000389773.5_Silent_p.V232V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V320V	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	141	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CCCTCTACGTGGTGCACCCCA	0.577																																						uc003bfd.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(958-960)gtG>gtA		Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.							139	112	121					22																	45210582		2203	4300	6503	SO:0001819	synonymous_variant	553158							g.chr22:45210582G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.423G>A	22.37:g.45210582G>A			Somatic				PRR5-ARHGAP8_uc011aqi.2_Silent_p.V232V|PRR5-ARHGAP8_uc011aqj.2_Silent_p.V146V|PRR5-ARHGAP8_uc003bfi.3_Silent_p.V110V|PRR5-ARHGAP8_uc010gzv.3_Silent_p.V110V|PRR5-ARHGAP8_uc003bfj.3_Silent_p.V141V|PRR5-ARHGAP8_uc003bfk.3_Silent_p.V110V|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	p.V320V	NM_181335	NP_851852	WXS	Illumina GAIIx	Phase_I					9	1237	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.960G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591634	0.28357	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.43	-8.3	0.01005	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0319	0.09713	0.0795:0.2529:0.1506:0.5169	.	.	.	.	X	164	.	.	W	+	2	0	PRR5-ARHGAP8	43589246	0.001000	0.12720	0.075000	0.20258	0.817000	0.46193	-1.531000	0.02219	-0.828000	0.04273	0.650000	0.86243	TGG		0.577	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		7	68	0	0	0	1	0	7	68					A	45210582	G	A	45210582	2	1	399	1	0	0	0	0	0	0	0	1	888	1335	47	2		2	ARHGAP8	22	45210582	Silent	SNP	G	TCGA-MK-A4N6-01A-11D-A257-08		45210582	6093984	9	6803											
GLOD5	392465	broad.mit.edu	37	X	48631755	48631755	+	Silent	SNP	A	A	G			TCGA-MK-A4N6-01A-11D-A257-08	TCGA-MK-A4N6-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c33c94b9-d7ae-44b7-9ce9-0fa286a340fd	f7d47101-8886-4c3c-a71f-4ab80053107c	g.chrX:48631755A>G	ENST00000303227.6	+	4	428	c.387A>G	c.(385-387)ccA>ccG	p.P129P	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	129										endometrium(1)|lung(2)	3						AGGAGGGGCCAGTCCCCAGAA	0.473																																						uc011mmh.2																			0				endometrium(1)|lung(2)	3						c.(385-387)ccA>ccG		Homo sapiens glyoxalase domain containing 5 (GLOD5), mRNA.							94	86	89					X																	48631755		1890	4097	5987	SO:0001819	synonymous_variant	392465							g.chrX:48631755A>G		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.387A>G	X.37:g.48631755A>G			Somatic					p.P129P	NM_001080489	NP_001073958	WXS	Illumina GAIIx	Phase_I					3	428	+									Silent	SNP	ENST00000303227.6	37	c.387A>G	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	a	9.930	1.214459	0.22289	.	.	ENSG00000171433	ENST00000445229	.	.	.	5.05	2.34	0.29019	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30937	-0.9961	4	.	.	.	.	3.1419	0.06458	0.5132:0.0:0.1047:0.3821	.	.	.	.	R	96	.	.	Q	+	2	0	GLOD5	48516699	0.502000	0.26107	0.979000	0.43373	0.897000	0.52465	-0.287000	0.08388	0.632000	0.30432	0.483000	0.47432	CAG		0.473	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		16	11	0	0	0	1	0	16	11					G	48631755	A	G	48631755	2	3	399	1	0	0	0	0	0	0	0	1	6451	175	7	3		3	GLOD5	23	48631755	Silent	SNP	A	TCGA-MK-A4N6-01A-11D-A257-08		48631755	106638805	10	6804											
ACOT7	11332	broad.mit.edu	37	1	6341211	6341211	+	Missense_Mutation	SNP	T	T	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr1:6341211T>A	ENST00000377855.2	-	8	1141	c.995A>T	c.(994-996)tAc>tTc	p.Y332F	ACOT7_ENST00000545482.1_Missense_Mutation_p.Y217F|ACOT7_ENST00000377842.3_Missense_Mutation_p.Y281F|ACOT7_ENST00000608083.1_Missense_Mutation_p.Y290F|ACOT7_ENST00000361521.4_Missense_Mutation_p.Y322F|ACOT7_ENST00000377845.3_Missense_Mutation_p.Y302F	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	332					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CAGCGACACGTAGGTGAAGAA	0.642											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(74;673 1226 4974 11850 13190)	uc001ams.3																			0				kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16						c.(994-996)tAc>tTc		Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA.							62	54	57					1																	6341211		2203	4300	6503	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6341211T>A	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.995A>T	1.37:g.6341211T>A	ENSP00000367086:p.Tyr332Phe		Somatic	OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	ACOT7_uc001amt.3_Missense_Mutation_p.Y322F|ACOT7_uc001amu.3_Non-coding_Transcript|ACOT7_uc001amq.3_Missense_Mutation_p.Y281F|ACOT7_uc001amr.3_Missense_Mutation_p.Y302F	p.Y332F	NM_181864	NP_863654	WXS	Illumina GAIIx	Phase_I	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	7	1152	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	332					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.995A>T	CCDS65.1	.	.	.	.	.	.	.	.	.	.	T	7.326	0.618013	0.14129	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.69	4.69	0.59074	.	0.070963	0.64402	D	0.000016	T	0.17831	0.0428	N	0.08118	0	0.80722	D	1	B;B;B;B	0.20052	0.006;0.005;0.041;0.001	B;B;B;B	0.22152	0.007;0.005;0.038;0.007	T	0.06972	-1.0797	10	0.06099	T	0.92	.	13.3346	0.60509	0.0:0.0:0.0:1.0	.	322;332;302;281	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	F	332;302;281;322;217	ENSP00000367086:Y332F;ENSP00000367076:Y302F;ENSP00000367073:Y281F;ENSP00000354615:Y322F;ENSP00000439218:Y217F	ENSP00000354615:Y322F	Y	-	2	0	ACOT7	6263798	1.000000	0.71417	0.994000	0.49952	0.742000	0.42306	3.805000	0.55575	1.744000	0.51775	0.459000	0.35465	TAC		0.642	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		19	34	0	0	0	1	0	19	34					A	6341211	T	A	6341211	3	1	400	1	0	0	0	0	1	0	0	0	155	1638	57	5	155	5	ACOT7	1	6341211	Missense_Mutation	SNP	T	TCGA-MK-A4N7-01A-11D-A257-08		6341211	242909410	1	6805											
SIKE1	80143	broad.mit.edu	37	1	115321764	115321764	+	Splice_Site	SNP	G	G	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr1:115321764G>A	ENST00000060969.5	-	3	476	c.407C>T	c.(406-408)gCa>gTa	p.A136V	SIKE1_ENST00000506320.1_5'UTR|SIKE1_ENST00000369528.5_Splice_Site_p.A140V			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	136					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GTTTCTTACTGCAGAGTGAGA	0.378																																						uc001efp.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.e3+1		Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 1, mRNA.							141	145	144					1																	115321764		2203	4300	6503	SO:0001630	splice_region_variant	80143					cytosol	protein binding	g.chr1:115321764G>A	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"suppressor of IKK epsilon"	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.408+1C>T	1.37:g.115321764G>A			Somatic				SIKE1_uc001efo.4_Splice_Site_p.A136_splice	p.A140_splice	NM_001102396	NP_001095866	WXS	Illumina GAIIx	Phase_I	Q9BRV8	SIKE1_HUMAN			3	500	-			136					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Splice_Site	SNP	ENST00000060969.5	37	c.420_splice	CCDS878.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646768	0.47258	.	.	ENSG00000052723	ENST00000369528;ENST00000060969	T;T	0.68903	-0.36;-0.36	6.17	5.09	0.68999	.	0.303964	0.40554	N	0.001061	T	0.22044	0.0531	N	0.02011	-0.69	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.08055	0.003;0.003	T	0.15665	-1.0429	10	0.45353	T	0.12	-7.7221	7.6281	0.28224	0.0751:0.1222:0.6771:0.1256	.	140;136	Q9BRV8-2;Q9BRV8	.;SIKE1_HUMAN	V	140;136	ENSP00000358541:A140V;ENSP00000060969:A136V	ENSP00000060969:A136V	A	-	2	0	SIKE1	115123287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.913000	0.28611	2.941000	0.99782	0.655000	0.94253	GCA		0.378	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073	Missense_Mutation	18	32	0	0	0	1	0	18	32					A	115321764	G	A	115321764	5	1	400	1	0	0	0	0	0	0	1	0	14320	1333	46	2	228	2	SIKE1	1	115321764	Splice_Site	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	108980553	115321764	133928857	2	6806											
MYT1L	23040	broad.mit.edu	37	2	1915828	1915828	+	Missense_Mutation	SNP	C	C	T			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr2:1915828C>T	ENST00000399161.2	-	12	2420	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	MYT1L_ENST00000428368.2_Missense_Mutation_p.R556H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	558					cell differentiation (GO:0030154)|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)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATGCCCGCGCCCCGTGCA	0.597																																						uc002qxe.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1672-1674)cGc>cAc		Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.							45	48	47					2																	1915828		2055	4221	6276	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1915828C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1673G>A	2.37:g.1915828C>T	ENSP00000382114:p.Arg558His		Somatic				MYT1L_uc002qxd.3_Missense_Mutation_p.R556H|MYT1L_uc010ewl.2_Non-coding_Transcript	p.R558H	NM_015025	NP_055840	WXS	Illumina GAIIx	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	11	2500	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	558					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1673G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.109976	0.94292	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.57107	0.43;0.42	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.966	T	0.74463	-0.3657	10	0.72032	D	0.01	-14.8821	19.1783	0.93612	0.0:1.0:0.0:0.0	.	558;556	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	H	558;504;556	ENSP00000382114:R558H;ENSP00000396103:R556H	ENSP00000295067:R504H	R	-	2	0	MYT1L	1894835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.677000	0.84024	2.595000	0.87683	0.561000	0.74099	CGC		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		10	9	0	0	0	1	0	10	9					T	1915828	C	T	1915828	3	4	400	1	0	0	0	0	1	0	0	0	10107	768	27	1	1943	1	MYT1L	2	1915828	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		1915828	241283545	3	6807											
MAP2	4133	broad.mit.edu	37	2	210559316	210559316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr2:210559316G>T	ENST00000360351.4	+	7	2928	c.2422G>T	c.(2422-2424)Gaa>Taa	p.E808*	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E804*|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	808					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)	TGACCTTCCTGAAATGCTAGA	0.463																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			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.(2422-2424)Gaa>Taa		Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	Estramustine(DB01196)						126	126	126					2																	210559316		2203	4300	6503	SO:0001587	stop_gained	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.chr2:210559316G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2422G>T	2.37:g.210559316G>T	ENSP00000353508:p.Glu808*		Somatic				MAP2_uc002vdc.1_Nonsense_Mutation_p.E808*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.E804*	p.E808*	NM_002374	NP_002365	WXS	Illumina GAIIx	Phase_I	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)	6	2670	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	808					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.2422G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	37	6.075465	0.97262	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9119	20.0413	0.97592	0.0:0.0:1.0:0.0	.	.	.	.	X	808;804	.	ENSP00000353508:E808X	E	+	1	0	MAP2	210267561	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.403000	0.79983	2.751000	0.94390	0.650000	0.86243	GAA		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		11	100	0	0	0	1	0	11	100					T	210559316	G	T	210559316	4	4	400	1	0	0	0	0	0	1	0	0	9235	1291	45	4	2436	4	MAP2	2	210559316	Nonsense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	208643488	210559316	32640057	4	6808											
FBXL5	26234	broad.mit.edu	37	4	15629584	15629584	+	Missense_Mutation	SNP	T	T	C			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr4:15629584T>C	ENST00000341285.3	-	7	1089	c.965A>G	c.(964-966)cAt>cGt	p.H322R	FBXL5_ENST00000412094.2_Missense_Mutation_p.H305R|FBXL5_ENST00000382358.4_Missense_Mutation_p.H196R	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	322					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TAGAACGTTATGAATTAAGCC	0.348																																						uc003goc.2																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(964-966)cAt>cGt		Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.							117	109	112					4																	15629584		2202	4300	6502	SO:0001583	missense	26234				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15629584T>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.965A>G	4.37:g.15629584T>C	ENSP00000344866:p.His322Arg		Somatic				FBXL5_uc010idw.2_Missense_Mutation_p.H235R|FBXL5_uc003gob.2_Missense_Mutation_p.H184R|FBXL5_uc010idx.2_Missense_Mutation_p.H321R|FBXL5_uc003god.2_Missense_Mutation_p.H305R|FBXL5_uc010idy.2_Missense_Mutation_p.H322R	p.H322R	NM_012161	NP_036293	WXS	Illumina GAIIx	Phase_I	Q9UKA1	FBXL5_HUMAN			6	1090	-			322					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.965A>G	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317350	0.40996	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.29397	1.58;1.59;1.57	5.63	5.63	0.86233	.	0.144117	0.64402	D	0.000005	T	0.26484	0.0647	L	0.34521	1.04	0.58432	D	0.999999	B;B	0.26845	0.161;0.1	B;B	0.32864	0.154;0.073	T	0.06826	-1.0805	10	0.17832	T	0.49	-19.615	14.4046	0.67073	0.0:0.0:0.0:1.0	.	305;322	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	R	322;305;196	ENSP00000344866:H322R;ENSP00000408679:H305R;ENSP00000371795:H196R	ENSP00000344866:H322R	H	-	2	0	FBXL5	15238682	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.175000	0.77632	2.138000	0.66242	0.377000	0.23210	CAT		0.348	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			9	10	0	0	0	1	0	9	10					C	15629584	T	C	15629584	3	2	400	1	0	0	0	0	1	0	0	0	5722	1464	51	3	1130	3	FBXL5	4	15629584	Missense_Mutation	SNP	T	TCGA-MK-A4N7-01A-11D-A257-08		15629584	175524692	5	6809											
AKAP12	9590	broad.mit.edu	37	6	151671522	151671522	+	Missense_Mutation	SNP	C	C	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr6:151671522C>A	ENST00000253332.1	+	3	2185	c.1996C>A	c.(1996-1998)Ccg>Acg	p.P666T	AKAP12_ENST00000359755.5_Missense_Mutation_p.P561T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P568T|AKAP12_ENST00000402676.2_Missense_Mutation_p.P666T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	666					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGCCAAAGCCGGAAGAACC	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1996-1998)Ccg>Acg		Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.							84	81	82					6																	151671522		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671522C>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1996C>A	6.37:g.151671522C>A	ENSP00000253332:p.Pro666Thr		Somatic				AKAP12_uc003qoe.3_Missense_Mutation_p.P666T|AKAP12_uc003qof.3_Missense_Mutation_p.P568T|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.P561T	p.P666T	NM_005100	NP_005091	WXS	Illumina GAIIx	Phase_I	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	3	2236	+		Ovarian(120;0.125)	666					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1996C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	6.497	0.459964	0.12342	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.05649	3.41;3.41;3.42;3.42	5.31	2.1	0.27182	.	0.195349	0.25651	N	0.029205	T	0.01061	0.0035	N	0.25890	0.77	0.24255	N	0.995306	B;B;B	0.33940	0.394;0.433;0.307	B;B;B	0.27887	0.068;0.084;0.038	T	0.48822	-0.9001	10	0.21014	T	0.42	.	4.9784	0.14153	0.1448:0.6038:0.1034:0.148	.	561;568;666	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	666;666;568;561	ENSP00000384537:P666T;ENSP00000253332:P666T;ENSP00000346702:P568T;ENSP00000352794:P561T	ENSP00000253332:P666T	P	+	1	0	AKAP12	151713215	0.786000	0.28738	0.039000	0.18376	0.137000	0.21094	0.007000	0.13174	0.565000	0.29255	0.650000	0.86243	CCG		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			17	40	0	0	0	1	0	17	40					A	151671522	C	A	151671522	3	1	400	1	0	0	0	0	1	0	0	0	448	739	26	4	2035	4	AKAP12	6	151671522	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		151671522	19443545	6	6810											
RELN	5649	broad.mit.edu	37	7	103202062	103202062	+	Missense_Mutation	SNP	G	G	T			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr7:103202062G>T	ENST00000428762.1	-	36	5605	c.5446C>A	c.(5446-5448)Ctt>Att	p.L1816I	RELN_ENST00000424685.2_Missense_Mutation_p.L1816I|RELN_ENST00000343529.5_Missense_Mutation_p.L1816I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1816					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCAGGCCAAAGGTCAGGATGT	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				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.(5446-5448)Ctt>Att		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							111	109	110					7																	103202062		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.chr7:103202062G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5446C>A	7.37:g.103202062G>T	ENSP00000392423:p.Leu1816Ile		Somatic				RELN_uc022ajq.1_Missense_Mutation_p.L1816I|RELN_uc010liz.3_Missense_Mutation_p.L1816I	p.L1816I	NM_005045	NP_005036	WXS	Illumina GAIIx	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5606	-			1816					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5446C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234325	0.58886	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.86	4.98	0.66077	Neuraminidase (1);	0.200755	0.44902	N	0.000402	T	0.45458	0.1343	L	0.50333	1.59	0.36883	D	0.889511	P;D	0.59767	0.868;0.986	P;D	0.70227	0.57;0.968	T	0.52518	-0.8565	10	0.48119	T	0.1	.	16.4028	0.83647	0.0:0.0:0.8671:0.1329	.	1816;1816	P78509-2;P78509	.;RELN_HUMAN	I	1816	ENSP00000392423:L1816I;ENSP00000345694:L1816I;ENSP00000388446:L1816I	ENSP00000345694:L1816I	L	-	1	0	RELN	102989298	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.602000	0.67612	1.475000	0.48197	0.563000	0.77884	CTT		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	32	0	0	0	1	0	12	32					T	103202062	G	T	103202062	3	4	400	1	0	0	0	0	1	0	0	0	13220	1000	35	4	5056	4	RELN	7	103202062	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		103202062	55936601	7	6811											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	20	0	0	0	1	0	12	20					T	140453136	A	T	140453136	3	4	400	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N7-01A-11D-A257-08	37251074	140453136	18685527	8	6812											
LOXL2	4017	broad.mit.edu	37	8	23167321	23167321	+	Silent	SNP	G	G	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr8:23167321G>A	ENST00000389131.3	-	10	2109	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	580	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTGAGGCCGAGAGGCAGTTCT	0.652																																						uc003xdh.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1738-1740)ctC>ctT		Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.							46	42	44					8																	23167321		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167321G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1740C>T	8.37:g.23167321G>A			Somatic				LOXL2_uc010lty.1_Silent_p.L119L	p.L580L	NM_002318	NP_002309	WXS	Illumina GAIIx	Phase_I	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	9	2079	-		Prostate(55;0.0453)|Breast(100;0.143)	580			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.1740C>T	CCDS34864.1																																																																																				0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			4	41	0	0	0	1	0	4	41					A	23167321	G	A	23167321	2	1	400	1	0	0	0	0	0	0	0	1	8900	929	33	2		2	LOXL2	8	23167321	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		23167321	123196701	9	6813											
PPAPDC2	403313	broad.mit.edu	37	9	4662753	4662753	+	Silent	SNP	G	G	C			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr9:4662753G>C	ENST00000381883.2	+	1	456	c.378G>C	c.(376-378)tcG>tcC	p.S126S	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	126						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		AGAGCTCGTCGTGGGGCAGCG	0.657											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)	uc003zin.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(376-378)tcG>tcC		Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.							49	48	48					9																	4662753		2203	4300	6503	SO:0001819	synonymous_variant	403313					integral to membrane	hydrolase activity	g.chr9:4662753G>C	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.378G>C	9.37:g.4662753G>C			Somatic	OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	p.S126S	NM_203453	NP_982278	WXS	Illumina GAIIx	Phase_I	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	0	456	+	all_hematologic(13;0.137)	Breast(48;0.238)	126					B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	ENST00000381883.2	37	c.378G>C	CCDS34981.1																																																																																				0.657	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		3	37	0	0	0	1	0	3	37					C	4662753	G	C	4662753	2	2	400	1	0	0	0	0	0	0	0	1	12295	1132	40	4		4	PPAPDC2	9	4662753	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		4662753	136550678	10	6814											
SVEP1	79987	broad.mit.edu	37	9	113234582	113234582	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr9:113234582G>A	ENST00000401783.2	-	15	2957	c.2621C>T	c.(2620-2622)gCt>gTt	p.A874V	SVEP1_ENST00000374469.1_Missense_Mutation_p.A851V|SVEP1_ENST00000302728.8_Missense_Mutation_p.A874V|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	874					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						CAGCCTATTAGCTGCACCCCA	0.493																																						uc010mtz.3																			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.(2620-2622)gCt>gTt		Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.							72	75	74					9																	113234582		2025	4188	6213	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113234582G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2621C>T	9.37:g.113234582G>A	ENSP00000384917:p.Ala874Val		Somatic				SVEP1_uc010mua.1_Missense_Mutation_p.A874V	p.A874V	NM_153366	NP_699197	WXS	Illumina GAIIx	Phase_I	Q4LDE5	SVEP1_HUMAN			14	2958	-			874					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.2621C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046855	0.75846	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.78924	-1.04;-1.04;-1.22	5.25	4.33	0.51752	.	0.345027	0.30742	N	0.008964	T	0.77572	0.4150	M	0.63428	1.95	0.26491	N	0.974944	P;P	0.46912	0.886;0.813	P;B	0.45377	0.478;0.259	T	0.69826	-0.5040	10	0.27785	T	0.31	.	15.4136	0.74945	0.0:0.1445:0.8555:0.0	.	874;874	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	874;851;874	ENSP00000384917:A874V;ENSP00000363593:A851V;ENSP00000304118:A874V	ENSP00000304118:A874V	A	-	2	0	SVEP1	112274403	0.987000	0.35691	0.709000	0.30452	0.894000	0.52154	1.741000	0.38238	1.187000	0.43000	0.650000	0.86243	GCT		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	59	0	0	0	1	0	7	59					A	113234582	G	A	113234582	3	1	400	1	0	0	0	0	1	0	0	0	15417	971	34	2	8230	2	SVEP1	9	113234582	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	108571829	113234582	27978849	11	6815											
FGFR2	2263	broad.mit.edu	37	10	123279544	123279544	+	Missense_Mutation	SNP	C	C	G			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr10:123279544C>G	ENST00000358487.5	-	7	1160	c.888G>C	c.(886-888)aaG>aaC	p.K296N	FGFR2_ENST00000351936.6_Missense_Mutation_p.K296N|FGFR2_ENST00000369056.1_Missense_Mutation_p.K296N|FGFR2_ENST00000478859.1_Missense_Mutation_p.K68N|FGFR2_ENST00000357555.5_Missense_Mutation_p.K207N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.K296N|FGFR2_ENST00000360144.3_Missense_Mutation_p.K207N|FGFR2_ENST00000457416.2_Missense_Mutation_p.K296N|FGFR2_ENST00000346997.2_Missense_Mutation_p.K296N|FGFR2_ENST00000356226.4_Missense_Mutation_p.K181N|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.K181N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	296	Ig-like C2-type 3.				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)	TACTGCCGTTCTTTTCCACGT	0.537		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													uc021pzy.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		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.(886-888)aaG>aaC		Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 2, mRNA.	Palifermin(DB00039)						128	121	123					10																	123279544		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	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 ERK1 and ERK2 cascade|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 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.chr10:123279544C>G	AK026508	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		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.888G>C	10.37:g.123279544C>G	ENSP00000351276:p.Lys296Asn		Somatic				FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.K181N|FGFR2_uc021pzx.1_Missense_Mutation_p.K207N|FGFR2_uc021pzz.1_Missense_Mutation_p.K296N|FGFR2_uc010qtl.2_Missense_Mutation_p.K296N|FGFR2_uc010qtm.2_Missense_Mutation_p.K181N|FGFR2_uc021qaa.1_Missense_Mutation_p.K296N|FGFR2_uc021qab.1_Missense_Mutation_p.K207N|FGFR2_uc021qac.1_Missense_Mutation_p.K226N|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.K315N|FGFR2_uc010qto.2_Missense_Mutation_p.K200N|FGFR2_uc001lfo.1_Missense_Mutation_p.K315N|FGFR2_uc010qtp.2_Missense_Mutation_p.K315N|FGFR2_uc001lfg.4_5'Flank	p.K296N	NM_022970	NP_075259	WXS	Illumina GAIIx	Phase_I	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	1535	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	296			Ig-like C2-type 3.		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	Missense_Mutation	SNP	ENST00000358487.5	37	c.888G>C	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396087	0.42512	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;D;T;T;T;T;T;T;T;T	0.95853	-0.34;-0.34;-0.34;-3.83;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.79	5.79	0.91817	.	0.188800	0.56097	D	0.000034	D	0.91865	0.7425	N	0.16368	0.405	0.58432	D	0.999998	B;B;P;B;B;B;B;B;B;B	0.43287	0.076;0.003;0.802;0.002;0.003;0.015;0.12;0.247;0.001;0.303	B;B;B;B;B;B;B;B;B;B	0.41619	0.082;0.027;0.361;0.016;0.006;0.076;0.139;0.205;0.007;0.241	D	0.91388	0.5133	10	0.37606	T	0.19	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	315;181;296;315;296;207;181;315;207;296	D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;.;.	N	207;296;296;181;296;181;296;296;296;207;296;296;207	ENSP00000350166:K207N;ENSP00000351276:K296N;ENSP00000348559:K181N;ENSP00000358056:K296N;ENSP00000358055:K181N;ENSP00000263451:K296N;ENSP00000410294:K296N;ENSP00000309878:K296N;ENSP00000353262:K207N;ENSP00000358052:K296N;ENSP00000358054:K296N;ENSP00000337665:K207N	ENSP00000337665:K207N	K	-	3	2	FGFR2	123269534	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.112000	0.41892	2.735000	0.93741	0.563000	0.77884	AAG		0.537	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		8	72	0	0	0	1	0	8	72					G	123279544	C	G	123279544	3	3	400	1	0	0	0	0	1	0	0	0	5866	912	32	4	1881	4	FGFR2	10	123279544	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		123279544	12255203	12	6816											
VPS11	55823	broad.mit.edu	37	11	118951865	118951865	+	Silent	SNP	C	C	G			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr11:118951865C>G	ENST00000300793.6	+	16	2541	c.2499C>G	c.(2497-2499)gtC>gtG	p.V833V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	834					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGCCCTCAGTCCACTTCCTGT	0.507																																						uc010ryx.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(2494-2496)gtC>gtG		Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.							252	254	253					11																	118951865		2063	4200	6263	SO:0001819	synonymous_variant	55823				protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118951865C>G	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2499C>G	11.37:g.118951865C>G			Somatic				VPS11_uc010ryy.2_Silent_p.V680V	p.V832V	NM_021729	NP_068375	WXS	Illumina GAIIx	Phase_I	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2538	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	834					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.2496C>G																																																																																					0.507	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		12	174	0	0	0	1	0	12	174					G	118951865	C	G	118951865	2	3	400	1	0	0	0	0	0	0	0	1	17185	842	30	4		4	VPS11	11	118951865	Silent	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		118951865	16054651	13	6817											
DNAJC7	7266	broad.mit.edu	37	17	40135606	40135606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr17:40135606delT	ENST00000457167.4	-	10	1295	c.1059delA	c.(1057-1059)aaafs	p.K353fs	DNAJC7_ENST00000426588.3_Frame_Shift_Del_p.K297fs|DNAJC7_ENST00000316603.7_Frame_Shift_Del_p.K297fs	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	353					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TCTGGTATACTTTTTCATAGT	0.368																																					Colon(63;618 1117 8600 10857 19751)	uc002hyo.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1057-1059)aaafs		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.							201	165	177					17																	40135606		1874	4103	5977	SO:0001589	frameshift_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40135606delT	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1059delA	17.37:g.40135606delT	ENSP00000406463:p.Lys353fs		Somatic				DNAJC7_uc010wgb.2_Frame_Shift_Del_p.K297fs|DNAJC7_uc002hyp.3_Frame_Shift_Del_p.K297fs|DNAJC7_uc010wgc.2_Frame_Shift_Del_p.K211fs	p.K353fs	NM_003315	NP_001138238	WXS	Illumina GAIIx	Phase_I	Q99615	DNJC7_HUMAN			9	1340	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	353					Q7Z784	Frame_Shift_Del	DEL	ENST00000457167.4	37	c.1059delA	CCDS45677.1																																																																																				0.368	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			2	4						2	4	---	---	---	---	-	40135606	T	-	40135606	7	5	400	1	0	1	0	1	0	0	0	0	4654	1606	56	0	445	0	DNAJC7	17	40135606	Frame_Shift_Del	DEL	T	TCGA-MK-A4N7-01A-11D-A257-08		40135606	41059604	14	6818											
ZFR2	23217	broad.mit.edu	37	19	3821446	3821446	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr19:3821446G>A	ENST00000262961.4	-	10	1533	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	508							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCTGGGCTCCGTGGCAATGGG	0.642																																						uc002lyw.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(1522-1524)aCg>aTg		Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.							24	27	26					19																	3821446		1967	4150	6117	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3821446G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1523C>T	19.37:g.3821446G>A	ENSP00000262961:p.Thr508Met		Somatic				ZFR2_uc010xhx.1_Non-coding_Transcript	p.T508M	NM_015174	NP_055989	WXS	Illumina GAIIx	Phase_I	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	9	1535	-			508						Missense_Mutation	SNP	ENST00000262961.4	37	c.1523C>T	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	6.760	0.509066	0.12883	.	.	ENSG00000105278	ENST00000262961	T	0.06142	3.34	3.03	-3.72	0.04411	.	0.882556	0.09211	N	0.833307	T	0.02455	0.0075	N	0.04636	-0.2	0.09310	N	0.999999	B	0.23377	0.084	B	0.15052	0.012	T	0.43909	-0.9362	10	0.40728	T	0.16	0.0418	4.8783	0.13667	0.6234:0.0:0.2023:0.1743	.	508	Q9UPR6	ZFR2_HUMAN	M	508	ENSP00000262961:T508M	ENSP00000262961:T508M	T	-	2	0	ZFR2	3772446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.809000	0.27168	-0.615000	0.05679	-1.174000	0.01732	ACG		0.642	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		18	25	0	0	0	1	0	18	25					A	3821446	G	A	3821446	3	1	400	1	0	0	0	0	1	0	0	0	17657	1145	40	1	1336	1	ZFR2	19	3821446	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		3821446	55307537	15	6819											
MCM8	84515	broad.mit.edu	37	20	5965510	5965510	+	Missense_Mutation	SNP	C	C	G			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr20:5965510C>G	ENST00000378896.3	+	15	2194	c.1817C>G	c.(1816-1818)tCt>tGt	p.S606C	MCM8_ENST00000378883.1_Missense_Mutation_p.S559C|MCM8_ENST00000265187.4_Missense_Mutation_p.S590C|MCM8_ENST00000378886.2_Missense_Mutation_p.S646C	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	606	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CACTTACTCTCTGAACATGTG	0.393																																						uc002wmk.3																			0		p.P646L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1936-1938)tCt>tGt		Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.							153	144	147					20																	5965510		2203	4300	6503	SO:0001583	missense	84515				DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965510C>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1817C>G	20.37:g.5965510C>G	ENSP00000368174:p.Ser606Cys		Somatic				MCM8_uc002wmi.3_Missense_Mutation_p.S606C|MCM8_uc002wmj.3_Missense_Mutation_p.S590C|MCM8_uc002wml.3_Missense_Mutation_p.S606C|MCM8_uc010gbp.3_Missense_Mutation_p.S559C|MCM8_uc002wmm.3_Missense_Mutation_p.S144C	p.S646C	NM_032485	NP_115874	WXS	Illumina GAIIx	Phase_I	Q9UJA3	MCM8_HUMAN			14	2314	+			606					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1937C>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010876	0.93346	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	M	0.83603	2.65	0.80722	D	1	D;D;P;D	0.59357	0.982;0.961;0.903;0.985	P;P;P;P	0.62740	0.848;0.81;0.775;0.906	T	0.02417	-1.1162	10	0.87932	D	0	-19.4626	20.3754	0.98918	0.0:1.0:0.0:0.0	.	559;646;590;606	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	C	606;559;646;590	ENSP00000368174:S606C;ENSP00000368161:S559C;ENSP00000368164:S646C;ENSP00000265187:S590C	ENSP00000265187:S590C	S	+	2	0	MCM8	5913510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.171000	0.77595	2.894000	0.99253	0.591000	0.81541	TCT		0.393	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	29	0	0	0	1	0	4	29					G	5965510	C	G	5965510	3	3	400	1	0	0	0	0	1	0	0	0	9393	913	32	4	1871	4	MCM8	20	5965510	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		5965510	57060010	16	6820											
ZNRF3	84133	broad.mit.edu	37	22	29446145	29446145	+	Missense_Mutation	SNP	C	C	G	rs563982294		TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chr22:29446145C>G	ENST00000544604.2	+	8	2151	c.1976C>G	c.(1975-1977)tCc>tGc	p.S659C	ZNRF3_ENST00000406323.3_Missense_Mutation_p.S559C|ZNRF3_ENST00000402174.1_Missense_Mutation_p.S559C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S559C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	659					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GATCAGGTGTCCACCTGCAGC	0.682													C|||	1	0.000199681	0	0	5008	,	,		16514	0.001		0	False		,,,				2504	0					uc003aeg.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1975-1977)tCc>tGc		Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.							43	49	47					22																	29446145		2014	4160	6174	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446145C>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1976C>G	22.37:g.29446145C>G	ENSP00000443824:p.Ser659Cys		Somatic				ZNRF3_uc021wnq.1_Missense_Mutation_p.S559C	p.S659C	NM_001206998	NP_001193927	WXS	Illumina GAIIx	Phase_I	Q9ULT6	ZNRF3_HUMAN			7	1976	+			659					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1976C>G	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195094	0.78902	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.65498	2.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89829	0.3994	10	0.87932	D	0	-37.608	18.4931	0.90854	0.0:1.0:0.0:0.0	.	659	Q9ULT6	ZNRF3_HUMAN	C	659;559;366;559;559	ENSP00000443824:S659C;ENSP00000328614:S559C;ENSP00000384456:S559C;ENSP00000384553:S559C	ENSP00000328614:S559C	S	+	2	0	ZNRF3	27776145	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.098000	0.76974	2.603000	0.88011	0.650000	0.86243	TCC		0.682	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		9	91	0	0	0	1	0	9	91					G	29446145	C	G	29446145	3	3	400	1	0	0	0	0	1	0	0	0	18210	855	30	4	1702	4	ZNRF3	22	29446145	Missense_Mutation	SNP	C	TCGA-MK-A4N7-01A-11D-A257-08		29446145	21858421	17	6821											
HUWE1	10075	broad.mit.edu	37	X	53575049	53575049	+	Silent	SNP	G	G	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:53575049G>A	ENST00000342160.3	-	67	10678	c.10221C>T	c.(10219-10221)tcC>tcT	p.S3407S	HUWE1_ENST00000262854.6_Silent_p.S3407S|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3407					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						CTGACTTCACGGAGTTCTTGC	0.547													G|||	2	0.000529801	0	0	3775	,	,		13797	0		0	False		,,,				2504	0.002					uc004dsp.3																			0		p.A3406S(1)		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.(10219-10221)tcC>tcT		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							65	51	55					X																	53575049		2203	4299	6502	SO:0001819	synonymous_variant	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:53575049G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10221C>T	X.37:g.53575049G>A			Somatic				HUWE1_uc004dsn.3_Silent_p.S2215S	p.S3407S	NM_031407	NP_113584	WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			67	10623	-			3407					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.10221C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	5.374	0.254215	0.10185	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.53	-2.38	0.06622	.	.	.	.	.	T	0.62925	0.2468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59789	-0.7388	4	.	.	.	.	12.8913	0.58073	0.6071:0.0:0.3929:0.0	.	.	.	.	C	2441;245	.	.	R	-	1	0	HUWE1	53591774	0.001000	0.12720	0.969000	0.41365	0.963000	0.63663	-2.099000	0.01346	-0.582000	0.05929	-0.306000	0.09157	CGT		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		16	37	0	0	0	1	0	16	37					A	53575049	G	A	53575049	2	1	400	1	0	0	0	0	0	0	0	1	7461	1103	39	1		1	HUWE1	23	53575049	Silent	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08		53575049	101695511	18	6822											
ANKRD58	347454	broad.mit.edu	37	X	118893168	118893168	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:118893168G>A	ENST00000343905.3	+	1	593	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	180																	GAGGCTCGACGTGAGCGCCCC	0.692																																						uc010nql.3																			0											c.(538-540)Gtg>Atg		Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA.							4	5	5					X																	118893168		1739	3739	5478	SO:0001583	missense	347454							g.chrX:118893168G>A		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.538G>A	X.37:g.118893168G>A	ENSP00000340975:p.Val180Met		Somatic					p.V180M	NM_001105576	NP_001099046	WXS	Illumina GAIIx	Phase_I	A6NJG2	ANR58_HUMAN			0	593	+			180						Missense_Mutation	SNP	ENST00000343905.3	37	c.538G>A	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377635	0.42105	.	.	ENSG00000187808	ENST00000343905	T	0.73897	-0.79	4.11	2.33	0.28932	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.73171	0.3553	M	0.74389	2.26	0.34797	D	0.736275	D	0.58268	0.982	P	0.46917	0.531	T	0.75519	-0.3289	9	0.49607	T	0.09	-15.4514	5.9364	0.19169	0.4401:0.0:0.5599:0.0	.	180	A6NJG2	ANR58_HUMAN	M	180	ENSP00000340975:V180M	ENSP00000340975:V180M	V	+	1	0	ANKRD58	118777196	1.000000	0.71417	0.965000	0.40720	0.261000	0.26267	2.073000	0.41519	0.262000	0.21774	0.190000	0.17370	GTG		0.692	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		6	4	0	0	0	1	0	6	4					A	118893168	G	A	118893168	3	1	400	1	0	0	0	0	1	0	0	0	684	1145	40	1	540	1	ANKRD58	23	118893168	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	65318119	118893168	36377392	19	6823											
GABRQ	55879	broad.mit.edu	37	X	151806720	151806720	+	Missense_Mutation	SNP	G	G	A			TCGA-MK-A4N7-01A-11D-A257-08	TCGA-MK-A4N7-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1565fa2-c035-429d-859e-9b4746a7322e	0fc0bdda-7d6c-43d0-8ff0-ba8450a96c27	g.chrX:151806720G>A	ENST00000370306.2	+	1	84	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	22					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGCTCGCGGAGGGCAACTA	0.647																																						uc004ffp.1																			0		p.A21V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(64-66)Gag>Aag		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.							69	57	61					X																	151806720		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	g.chrX:151806720G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.64G>A	X.37:g.151806720G>A	ENSP00000359329:p.Glu22Lys		Somatic					p.E22K	NM_018558	NP_061028	WXS	Illumina GAIIx	Phase_I	Q9UN88	GBRT_HUMAN			0	84	+	Acute lymphoblastic leukemia(192;6.56e-05)		22					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.64G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861051	0.71949	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	T	0.81163	-1.46	4.14	4.14	0.48551	.	0.265062	0.27159	N	0.020660	T	0.69878	0.3160	L	0.29908	0.895	0.26658	N	0.97197	P	0.46784	0.884	B	0.40825	0.341	T	0.68424	-0.5412	10	0.87932	D	0	.	10.8095	0.46538	0.0:0.0:1.0:0.0	.	22	Q9UN88	GBRT_HUMAN	K	22;17	ENSP00000359329:E22K	ENSP00000331410:E17K	E	+	1	0	GABRQ	151557376	1.000000	0.71417	0.571000	0.28486	0.981000	0.71138	3.565000	0.53798	2.314000	0.78098	0.529000	0.55759	GAG		0.647	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		7	85	0	0	0	1	0	7	85					A	151806720	G	A	151806720	3	1	400	1	0	0	0	0	1	0	0	0	6175	1175	41	2	66	2	GABRQ	23	151806720	Missense_Mutation	SNP	G	TCGA-MK-A4N7-01A-11D-A257-08	32913552	151806720	3463840	20	6824											
TGFBI	7045	broad.mit.edu	37	5	135389735	135389735	+	Silent	SNP	G	G	A			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr5:135389735G>A	ENST00000442011.2	+	9	1391	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	TGFBI_ENST00000305126.8_Silent_p.L410L	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	410	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGAGCGGTTGACCCTCCTGG	0.532																																						uc003lbf.4																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1228-1230)ttG>ttA		Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.							128	127	127					5																	135389735		1957	4155	6112	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135389735G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1230G>A	5.37:g.135389735G>A			Somatic				TGFBI_uc003lbg.4_Silent_p.L143L|TGFBI_uc003lbh.4_Silent_p.L236L|TGFBI_uc011cyb.2_Silent_p.L236L	p.L410L	NM_000358	NP_000349	WXS	Illumina GAIIx	Phase_I	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	1391	+			410			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.1230G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285912	0.23478	.	.	ENSG00000120708	ENST00000508767;ENST00000514554	.	.	.	6.08	3.18	0.36537	.	.	.	.	.	T	0.62660	0.2446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60347	-0.7281	4	.	.	.	-12.8199	12.3406	0.55091	0.0:0.2398:0.6356:0.1245	.	.	.	.	N	149;128	.	.	D	+	1	0	TGFBI	135417634	1.000000	0.71417	0.979000	0.43373	0.941000	0.58515	2.656000	0.46716	0.891000	0.36235	0.655000	0.94253	GAC		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			15	90	0	0	0	1	0	15	90					A	135389735	G	A	135389735	2	1	401	1	0	0	0	0	0	0	0	1	15817	1281	45	2		2	TGFBI	5	135389735	Silent	SNP	G	TCGA-MK-A4N9-01A-11D-A257-08		135389735	45525525	1	6825											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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 stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	17	0	0	0	1	0	10	17					T	140453136	A	T	140453136	3	4	401	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-MK-A4N9-01A-11D-A257-08		140453136	18685527	2	6826											
CSMD1	64478	broad.mit.edu	37	8	4494931	4494931	+	Missense_Mutation	SNP	G	G	C			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr8:4494931G>C	ENST00000520002.1	-	2	790	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	CSMD1_ENST00000539096.1_Missense_Mutation_p.L79V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L79V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L79V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L79V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L79V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L79V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	79	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		TCTTCTTCAAGAGCAAAGGTA	0.423																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(235-237)Ctt>Gtt		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							130	129	130					8																	4494931		1914	4149	6063	SO:0001583	missense	64478					integral to membrane		g.chr8:4494931G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.235C>G	8.37:g.4494931G>C	ENSP00000430733:p.Leu79Val		Somatic					p.L79V	NM_033225	NP_150094	WXS	Illumina GAIIx	Phase_I	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)	1	625	-		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)	79			CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.235C>G		.	.	.	.	.	.	.	.	.	.	G	14.05	2.420579	0.42918	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.12	5.12	0.69794	.	.	.	.	.	T	0.40272	0.1110	L	0.42487	1.325	0.28338	N	0.921467	D	0.69078	0.997	D	0.85130	0.997	T	0.16988	-1.0384	9	0.51188	T	0.08	.	16.0542	0.80782	0.0:0.0:1.0:0.0	.	79	E5RIG2	.	V	79	ENSP00000383047:L79V;ENSP00000430733:L79V;ENSP00000441462:L79V;ENSP00000446243:L79V;ENSP00000441675:L79V	ENSP00000383047:L79V	L	-	1	0	CSMD1	4482339	1.000000	0.71417	0.186000	0.23195	0.990000	0.78478	5.719000	0.68462	2.401000	0.81631	0.585000	0.79938	CTT		0.423	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	84	0	0	0	1	0	4	84					C	4494931	G	C	4494931	3	2	401	1	0	0	0	0	1	0	0	0	3944	942	33	4	10548	4	CSMD1	8	4494931	Missense_Mutation	SNP	G	TCGA-MK-A4N9-01A-11D-A257-08		4494931	141869091	3	6827											
PEX5	5830	broad.mit.edu	37	12	7343014	7343014	+	Missense_Mutation	SNP	C	C	G			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:7343014C>G	ENST00000455147.2	+	3	621	c.41C>G	c.(40-42)gCc>gGc	p.A14G	PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266564.3_Missense_Mutation_p.A14G|PEX5_ENST00000266563.5_Missense_Mutation_p.A14G|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000434354.2_Missense_Mutation_p.A14G|PEX5_ENST00000412720.2_Missense_Mutation_p.A35G|PEX5_ENST00000420616.2_Missense_Mutation_p.A14G|RP11-273B20.3_ENST00000545794.1_RNA	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	14					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGCGGGGGTGCCAACCCGCTC	0.667																																						uc010sgd.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(103-105)gCc>gGc		Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.							59	65	63					12																	7343014		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7343014C>G	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.41C>G	12.37:g.7343014C>G	ENSP00000400647:p.Ala14Gly		Somatic				PEX5_uc009zfu.2_Missense_Mutation_p.A14G|PEX5_uc001qsw.3_Missense_Mutation_p.A14G|PEX5_uc010sgc.2_Missense_Mutation_p.A14G|PEX5_uc001qsu.3_Missense_Mutation_p.A14G|PEX5_uc001qsv.3_Missense_Mutation_p.A14G	p.A35G	NM_001131026	NP_001124498	WXS	Illumina GAIIx	Phase_I	P50542	PEX5_HUMAN			1	193	+			14					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.104C>G	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814335	0.70912	.	.	ENSG00000139197	ENST00000542539;ENST00000455147;ENST00000540398;ENST00000266563;ENST00000434354;ENST00000544456;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000536841;ENST00000537873;ENST00000266564	D;D;D;D;D;D;D	0.89343	-2.44;-2.5;-2.39;-2.44;-2.46;-2.27;-2.43	4.83	4.83	0.62350	.	0.058458	0.64402	D	0.000002	D	0.85699	0.5757	L	0.38175	1.15	0.42406	D	0.992587	P;B;P;P;P	0.40398	0.595;0.262;0.594;0.716;0.716	B;B;B;B;B	0.40066	0.192;0.146;0.219;0.318;0.234	D	0.87550	0.2464	10	0.56958	D	0.05	.	17.5413	0.87849	0.0:1.0:0.0:0.0	.	35;14;14;14;14	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	G	14;14;14;14;14;14;14;14;35;14;14;14;14	ENSP00000400647:A14G;ENSP00000266563:A14G;ENSP00000407401:A14G;ENSP00000410159:A14G;ENSP00000391601:A35G;ENSP00000379877:A14G;ENSP00000266564:A14G	ENSP00000266563:A14G	A	+	2	0	PEX5	7234281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.670000	0.74467	2.245000	0.73994	0.561000	0.74099	GCC		0.667	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		5	141	0	0	0	1	0	5	141					G	7343014	C	G	7343014	3	3	401	1	0	0	0	0	1	0	0	0	11748	739	26	4	43	4	PEX5	12	7343014	Missense_Mutation	SNP	C	TCGA-MK-A4N9-01A-11D-A257-08		7343014	126508881	4	6828											
NTN4	59277	broad.mit.edu	37	12	96180969	96180969	+	Missense_Mutation	SNP	A	A	C	rs368445088		TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr12:96180969A>C	ENST00000343702.4	-	2	781	c.333T>G	c.(331-333)gaT>gaG	p.D111E	NTN4_ENST00000553059.1_Missense_Mutation_p.D111E|NTN4_ENST00000344911.4_Missense_Mutation_p.D74E|NTN4_ENST00000538383.1_Missense_Mutation_p.D74E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	111	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTCTGTGCACATCCTCCGCAG	0.542																																						uc001tei.3																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(331-333)gaT>gaG		Homo sapiens netrin 4 (NTN4), mRNA.							115	102	106					12																	96180969		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180969A>C	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.333T>G	12.37:g.96180969A>C	ENSP00000340998:p.Asp111Glu		Somatic				NTN4_uc009ztf.3_Missense_Mutation_p.D111E|NTN4_uc009ztg.3_Missense_Mutation_p.D74E	p.D111E	NM_021229	NP_067052	WXS	Illumina GAIIx	Phase_I	Q9HB63	NET4_HUMAN			1	782	-			111			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.333T>G	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.847859	0.32606	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.54	1.83	0.25207	Laminin, N-terminal (3);	0.175681	0.50627	D	0.000108	T	0.61476	0.2350	L	0.53249	1.67	0.26849	N	0.968215	B;B	0.32526	0.374;0.07	B;B	0.32928	0.108;0.155	T	0.46020	-0.9221	10	0.13108	T	0.6	.	5.7374	0.18073	0.5578:0.2459:0.1963:0.0	.	111;111	Q9HB63-2;Q9HB63	.;NET4_HUMAN	E	111;74;74;111;74	ENSP00000340998:D111E;ENSP00000339436:D74E;ENSP00000444432:D74E;ENSP00000447292:D111E;ENSP00000447594:D74E	ENSP00000340998:D111E	D	-	3	2	NTN4	94705100	0.021000	0.18746	1.000000	0.80357	0.788000	0.44548	0.009000	0.13219	0.351000	0.24027	-0.566000	0.04163	GAT		0.542	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		4	70	0	0	0	1	0	4	70					C	96180969	A	C	96180969	3	2	401	1	0	0	0	0	1	0	0	0	10702	214	8	5	1589	5	NTN4	12	96180969	Missense_Mutation	SNP	A	TCGA-MK-A4N9-01A-11D-A257-08	88837955	96180969	37670926	5	6829											
RSPH6A	81492	broad.mit.edu	37	19	46308064	46308064	+	Missense_Mutation	SNP	C	C	T			TCGA-MK-A4N9-01A-11D-A257-08	TCGA-MK-A4N9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0046319-9ff3-4b37-9669-8efc39b4e1c7	a7a96497-5517-42bf-b9a7-b3a6ccfe0d46	g.chr19:46308064C>T	ENST00000221538.3	-	3	1241	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E103K|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E367K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	367	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tctgcctcctcctcgccctcc	0.652																																						uc002pdm.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1099-1101)Gag>Aag		Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.							80	66	71					19																	46308064		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46308064C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1099G>A	19.37:g.46308064C>T	ENSP00000221538:p.Glu367Lys		Somatic				RSPH6A_uc002pdl.3_Missense_Mutation_p.E103K	p.E367K	NM_030785	NP_110412	WXS	Illumina GAIIx	Phase_I	Q9H0K4	RSH6A_HUMAN			2	1270	-			367			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1099G>A	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241610	0.79912	.	.	ENSG00000104941	ENST00000221538	T	0.17370	2.28	3.91	3.91	0.45181	.	0.320123	0.32533	N	0.005973	T	0.27629	0.0679	L	0.52905	1.665	0.45150	D	0.998166	P	0.51449	0.945	P	0.57468	0.821	T	0.02190	-1.1198	10	0.10636	T	0.68	-5.0786	14.2466	0.65993	0.0:1.0:0.0:0.0	.	367	Q9H0K4	RSH6A_HUMAN	K	367	ENSP00000221538:E367K	ENSP00000221538:E367K	E	-	1	0	RSPH6A	50999904	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.226000	0.78060	2.461000	0.83175	0.456000	0.33151	GAG		0.652	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			12	56	0	0	0	1	0	12	56					T	46308064	C	T	46308064	3	4	401	1	0	0	0	0	1	0	0	0	13707	864	30	2	1070	2	RSPH6A	19	46308064	Missense_Mutation	SNP	C	TCGA-MK-A4N9-01A-11D-A257-08		46308064	12820919	6	6830											
